HP_MULTICYSTIC_KIDNEY_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTICYSTIC_KIDNEY_DYSPLASIA	BRD4	PIGN	BBS2	CSPP1	RAD21	GNA11	BBIP1	MKKS	KAT6B	SH2B1	BUB3	TFAP2A	CEP57	SIX5	RPGRIP1	TRIM32	LAMB3	TXNDC15	PEX11B	B9D1	B9D2	TCTN2	BBS10	BBS12	B4GAT1	FRAS1	CEP19	TCTN3	CHRM3	TMEM107	MYLK	PEX12	INPP5E	IFT74	SALL1	ACTG2	OFD1	HDAC8	ARL3	DHCR7	TMEM67	NPHP1	LZTFL1	BBS5	PEX3	SMC3	PEX5	LMOD1	PEX10	GPC3	ZEB2	BUB1B	HDAC4	SF3B2	WNT3	MBTPS2	SPOP	ARL6	SMC1A	MKS1	TCTN1	PIEZO2	FREM2	PEX2	HNF1B	NPHP3	TMEM231	ARL6IP6	PEX6	WDPCP	LHX1	GPC4	GRIP1	PEX19	IFT27	CFAP418	PEX14	EYA1	TRIP13	RPGRIP1L	IFT172	LAMC2	FLI1	CEP290	BBS1	PEX16	PAX2	NIPBL	B3GLCT	BBS7	TTC8	MCTP2	BBS9	PEX1	TMEM237	GREB1L	SIX1	SDCCAG8	TMEM216	NXN	CD96	PEX13	PORCN	SCAPER	BBS4	LAMA3	MYH11	PEX26	CC2D2A	HOXD13	AMER1	SNRPB	FIBP	BUB1	ROR2	LIG1	RSPO2
HP_RECURRENT_URINARY_TRACT_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_URINARY_TRACT_INFECTIONS	IGKC	PNP	PIK3CG	DNAJC30	KAT5	CLDN19	ALMS1	FANCB	VPS37D	CDC42BPB	UBE2T	BCR	PKD2	LAMB3	ZNF699	HPSE2	CLDN16	PRKCD	NBN	LTBP1	CHRM3	CFI	RFXANK	FBLN5	METTL27	GANAB	MRAP	ELN	CR2	DZIP1L	SATB1	SAMD9	BRCA1	ARL3	FARSB	CREBBP	MNX1	BTK	CLEC7A	TNXB	FOCAD	IL2RB	SLC7A9	RFX5	SLC35C1	GTF2IRD1	MINPP1	G6PC3	FANCF	CISD2	FOXC2	EXT1	KAT6A	SMARCA2	BUD23	APRT	STAR	LRIG2	BLM	PALB2	POLR3GL	ALG5	BAZ1B	POLR3A	TRAIP	BCL7B	DNAJB11	MLXIPL	BRCA2	SLC46A1	MYL9	WFS1	WASF1	TRPS1	NCF1	HOXA13	FANCM	LAMC2	HSPA9	CRKL	SLX4	KANSL1	HLA-B	EFEMP2	TRAF3IP2	EIF4H	SHANK3	ISL1	KCTD1	GRHPR	IL17RA	GTF2IRD2	LIMK1	SLC3A1	KNSTRN	ERCC4	FANCL	TXNRD2	ATRX	EN1	PIK3CD	FKBP6	DYRK1A	RFXAP	SLC5A2	RAD51C	RFC2	IGHG2	FANCD2	CIITA	RNU7-1	TBL2	AGXT	TP63	TMEM270	BICC1	MAD2L2	GTF2I	MC2R	MED12	LAMA3	FANCA	FANCI	FANCE	IL17F	FANCG	LMNB1	IFT140	THOC6	CLIP2	PEPD	BRIP1	NNT	PKD1	PKHD1	MSN	IL17RC	MAPK1	ADNP	BNC2	RAD51	RFWD3	ALG9	XRCC2	FLVCR1	FANCC	CHRNA3	STX1A	ATP7A	MAN2B1	EP300
HP_NEUROGENIC_BLADDER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEUROGENIC_BLADDER	RASA1	ELOVL1	COG5	WFS1	PLP1	MNX1	FUZ	MTFMT	NOTCH3	GBE1	GJA1	ATXN3	VPS11	ATP13A2	CISD2	GNB1	SNCA	CEP85L	VANGL1	MACF1	TRAPPC12	ERCC8	CLCN6	ACER3	FBXO7	TBCD	EPHB4	FARS2	PEX3	LIG3	EN1	MARS2	PPOX	ERCC6	COG7	TBCK	CHRNA3	ARNT2	CHCHD10	MAP3K7
HP_URINARY_URGENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URINARY_URGENCY	ATXN8OS	ATL1	MAPT	SNCA	KPNA3	ALMS1	FAR1	HSPD1	PI4KA	CPT1C	HPDL	ALDH18A1	UBAP1	TBP	ADH1C	WASHC5	KIF5A	PINK1	GNB2	FA2H	REEP1	SPG11	RTN2	NIPA1	MT-TT	ABCD1	TRPV4	MED27	GBA1	ZFYVE26	KCNC3	SPG7	NR4A2	COQ2	ATXN2	CACNA1G	PNPT1	MARS2	SACS	EIF2AK1	B4GALNT1	ATXN10	LMNB1	GLUD2	SPAST	LRIG2	ATP1A3	PLP1	SNCAIP	ATP13A2
HP_HYPOPLASIA_OF_THE_UTERUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_UTERUS	GNRH1	HS6ST1	FOXL2	ERAL1	DHH	FIGLA	NR5A1	CYP11B1	NDUFB11	ESR1	NUP107	C14orf39	PROK2	CHD7	SPIDR	KISS1R	CLPP	DUSP6	COX7B	B3GLCT	KISS1	KIF14	PPP2R3C	FGF8	WDR11	DCAF17	SOX11	FGFR1	SOHLH1	SPRY4	WNT4	TACR3	FGF17	CYP17A1	ADH5	TAC3	BMP15	NSMF	MSH5	IRF6	GNRHR	HNF1B	PROKR2	STRA6	LARS2	POR	CYB5A	BMPR1B	NIN	MRPS22	HCCS
HP_ABNORMALITY_OF_THE_BLADDER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_BLADDER	PIGN	RASA1	DEPDC5	MYLK	SMARCE1	SEMA3E	SLC20A2	VPS37D	VCP	HSPD1	STIL	HS6ST2	MTMR14	PI4KA	HAAO	SASS6	FUZ	HNRNPU	SNCA	LTBP4	ALS2	PHC1	MYOCD	STAT6	SPG11	PPP3CA	NEFL	RTN2	CHRM3	SETD2	ALDH18A1	AVPR2	NIPA1	BNC2	MORC2	FMR1	ATL1	SYNE1	ATXN8OS	ASXL1	SPOP	ACTG2	SIX1	RRM2B	MNX1	PBX1	GP1BB	KIF14	SMARCA2	VANGL1	SMO	DBH	EIF2AK1	LMOD1	ITGA6	ZEB2	EXT1	GJA1	RREB1	STAMBP	SMC1A	LRRK2	POLG	TRAPPC14	DSE	ANKLE2	POLR3A	MLXIPL	KPNA3	KMT2C	CHMP2B	CPT1C	TRPS1	HLA-DQB1	ATP13A2	VPS11	WNT4	TP63	HSPA9	GABRB3	FGFR3	WASHC5	PSMD12	PLA2G6	UPB1	SPTLC1	ISL1	PDGFB	BAP1	CABP4	TRAPPC12	ERCC8	FGF10	TBX1	FARS2	MKS1	EHMT1	FKBP6	IKZF1	GREB1L	NCAPG2	HNRNPA2B1	HNRNPK	DPH5	APC2	RAC2	NF2	FANCF	CENPJ	DDHD2	EBF3	PIGO	GNB1	AQP2	MACF1	LMNB1	CLIP2	DCDC2	EPHB4	LIG3	KANSL1	NCAPD3	TRRAP	PLP1	FGFR2	MID1	CIT	EYA1	DNMT1	GBA2	IGHMBP2	TAF13	RAD21	VPS35	PRKAR1B	SLC25A4	GBE1	KRAS	PAX6	RERE	KCNJ10	DLG3	FOXF1	ADH1C	PAK2	SLC12A3	MYH11	SCN9A	ARSA	CACNA1H	EXT2	CHD7	CARMIL2	GNB2	FA2H	CDC45	GALNT2	SMARCB1	COL3A1	CDKN1C	DNAJC13	SALL1	ATP7A	FBLN5	MYO1H	NR4A2	COG5	ABCD1	AP5Z1	CLCNKB	PSAP	NSD1	FLNA	HTRA1	CACNA1G	MARS2	CDK6	HEXB	SACS	KCNJ18	KCNT1	STUB1	CISD2	GIGYF2	FANCI	CCL2	PAH	APRT	PANK2	SPAST	GJC2	SP110	ATXN10	ATRX	PEX11B	ATXN1	UNC45A	PPOX	MCPH1	CDK5RAP2	EIF4G1	GATA3	COG7	COMT	POR	BAZ1B	RSRC1	BPTF	REEP2	AFF4	ELN	DARS2	RARB	DVL3	FAM20A	PAX2	KIFBP	MAPT	CCND1	SLC35A2	NPHP3	ZMIZ1	NOTCH3	SEC24C	HMBS	BICC1	HLA-DRB1	ASPM	IFT57	UBAP1	TIMM50	SDHAF1	TRAF7	SMAD3	EIF4H	SHANK3	SLC2A1	MFSD2A	CRH	PEX3	SALL4	KIF5A	AUH	C19orf12	FREM2	CEP135	RNF125	WWOX	AGXT	CAPN1	PDGFRB	SDHD	DNM2	ATXN3	SPART	NFIA	GFAP	GBA1	FOXP1	SIGMAR1	PDCD1	GPR101	CEP63	VANGL2	COL5A1	CCNQ	PMP22	KCNQ1OT1	TRIO	FLVCR1	DACT1	STRA6	PLEC	ARNT2	HPRT1	BRD4	GRIP1	SH2B1	FXN	KAT5	HPDL	POLRMT	KIF1A	TBXT	STAT1	TNXB	SLC44A1	RNF170	CHRNA4	MAP3K7	TRAPPC10	MCM7	LTBP1	PYCR2	ERCC6	MT-TT	SLC5A2	METTL27	DPH1	KCNC3	HDAC8	COQ2	WFS1	TGFB1	MYRF	AIP	COL1A2	GTF2IRD1	H4C9	G6PC3	GABRG2	DKK1	GLUD2	CLCN6	NRIP1	TWNK	FBXO7	CHD4	LRIG2	ATP1A3	JAG1	SNCAIP	RETREG1	RPL11	MYCN	PIGQ	KY	PLOD1	CHRNB2	ELOVL1	BCL7B	MPZ	MTFMT	CREBBP	NOTCH2NLC	MAPKAPK5	HLA-B	NCF1	HOXA13	COL7A1	KNL1	SBF1	EFEMP2	PINK1	ZC4H2	TBCD	TBP	AKT1	FITM2	EN1	FUS	ATXN2	MBTPS2	TRPV4	RFC2	CC2D2A	MED27	RBCK1	PRNP	CHCHD10	ZFYVE26	DDX6	TBL2	HACE1	CLN3	SLC25A13	IGF2	CDH11	COPB2	GTF2I	MED12	CCBE1	RALGAPA1	CHRNA2	COL1A1	ZMYM2	WDR62	SPG7	BIN1	KCNQ1	SLC9A6	STX1A	ITGB4	DNAJC30	FKBP14	ALMS1	EIF2AK2	GAA	COL5A2	SIX5	NIPBL	SETX	LAMB3	MKKS	ERLIN2	CEP85L	COL18A1	PIK3CA	TERT	PRMT7	HPSE2	ACER3	HIRA	REEP1	RYR1	GABRA1	DYSF	RECQL4	SDHB	PIK3R5	SLC1A4	RBM8A	PNPT1	CFAP43	DNMT3A	ARVCF	KCND3	PUF60	CACNA1S	SMC3	HOGA1	B4GALNT1	NBN	SF3B2	FRMD5	HNRNPA1	BUD23	ROBO2	NEXMIF	KMT2B	JRK	SOX17	GALC	MYL9	FAR1	CAMK2B	UBE2A	MMP1	LAMC2	DMPK	MYF6	RNF168	SUFU	NAB2	SQSTM1	SDHA	PLXNA1	NKX2-1	PIGA	GTF2IRD2	LIMK1	CEP152	TTR	ARX	TOM1	TMEM270	COPB1	DSTYK	METTL5	LAMA3	JMJD1C	POLG2	OTUD5	STK11	TYROBP	CHST14	ALG9	PRDM8	ADNP	CYP7B1	TBCK	UFD1	CHRNA3	GABRA3	EP300
HP_BLADDER_DIVERTICULUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLADDER_DIVERTICULUM	TMEM270	DNAJC30	BCL7B	MLXIPL	FKBP14	ELN	VPS37D	GTF2I	NCF1	COL1A2	SMARCA2	COL5A2	COL3A1	GTF2IRD1	LTBP4	FBLN5	EFEMP2	ATP7A	EIF4H	COL1A1	BUD23	ALDH18A1	CLIP2	GTF2IRD2	LIMK1	COL5A1	LTBP1	SALL4	FKBP6	METTL27	RFC2	STX1A	BAZ1B	TP63	TBL2	PLOD1
HP_URINARY_RETENTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URINARY_RETENTION	ALDH18A1	TGFB1	ALMS1	HMBS	CAMK2B	LAMA3	KCNJ18	RASA1	CACNA1S	LAMC2	LAMB3	NAB2	EXT2	VANGL1	STAT6	LMNB1	ERCC8	APRT	SP110	BNC2	ERCC6	ACTG2	ABCD1	EXT1	PRNP	ASXL1	GABRA3
HP_NOCTURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NOCTURIA	RRM2B	POLG	POLG2	SLC12A3	TWNK	DBH	CLCNKB	SLC25A4	PLA2G6
HP_URINARY_INCONTINENCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URINARY_INCONTINENCE	DNMT1	GBA2	DEPDC5	IGHMBP2	SMARCE1	ALMS1	SLC20A2	VCP	ARSA	GBE1	HSPD1	HS6ST2	MTMR14	EIF2AK2	FA2H	GAA	HMBS	SACS	FUZ	SCN9A	TBXT	COG5	SLC44A1	CACNA1H	MORC2	PIK3CA	TERT	RNF170	CHRNA4	SPG11	GALNT2	SMARCB1	RYR1	NEFL	ATP13A2	GABRA1	RTN2	ALDH18A1	NIPA1	BNC2	FMR1	SLC1A4	ABCD1	PSAP	SYNE1	ATXN8OS	MYO1H	KCNC3	COQ2	AP5Z1	MNX1	CLCNKB	CACNA1G	CFAP43	BAP1	HTRA1	KCND3	HEXB	VANGL1	KCNT1	SMO	STUB1	ZEB2	GABRG2	CCL2	FRMD5	DKK1	PANK2	SPAST	GJC2	ATXN10	NOTCH3	PEX11B	NEXMIF	ALS2	PDGFB	KMT2B	JRK	RETREG1	KY	RSRC1	ATL1	CHRNB2	GALC	FAR1	NOTCH2NLC	HLA-DRB1	CHMP2B	CPT1C	IFT57	UBAP1	HLA-DQB1	TIMM50	GABRB3	WASHC5	MYF6	TRAF7	SUFU	SBF1	SQSTM1	SPTLC1	SLC2A1	CABP4	ZC4H2	TBCD	TBP	AKT1	CRH	FARS2	FITM2	FUS	KIF5A	ATXN2	AUH	C19orf12	TTR	TRPV4	LRIG2	ARX	DPH5	ZFYVE26	CAPN1	HACE1	PDGFRB	COPB1	NF2	DNM2	DDHD2	SIGMAR1	TYROBP	CHRNA2	PDCD1	ZMYM2	VANGL2	PRDM8	SPG7	ADNP	CYP7B1	BIN1	TRIO	FLVCR1	SLC9A6	HPSE2	SLC12A3
HP_MEGACYSTIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEGACYSTIS	NKX2-1	MYL9	ACTG2	LRIG2	AVPR2	MYH11	MYLK	LMOD1	TP63	AQP2
HP_ABNORMAL_MALE_INTERNAL_GENITALIA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MALE_INTERNAL_GENITALIA_MORPHOLOGY	CREBBP	IGKC	BTK	GSTM3	EP300	DHH	RNASEL	CLDN2	TP53	PRTN3	ZFHX3	PTEN	SERPINA1	CHEK2	SRCAP	PSMB8	NAB2	RAD51	EPHB2	STAT6	GCLC	HLA-DPB1	NR5A1	RAD50	COL14A1	SLC9A3	BRCA1	KCNN4	AR	HGD	DCTN4	IGHG2	CFTR	KLF6	CCND1	RNF43	ADGRG2	HFE	TGFB1	CLCA4	RAD51D	EDNRA	RAD51C	HLA-DPA1	PALB2	BMPR1A	SLC11A1	SRY	BARD1	AAGAB	MDM2	CDH1	SLC26A9	UNG	MRE11	BRIP1	VHL	HNF1B	SOX9	CEACAM3	APC	PTPN22	CEACAM6	STX1A	FOXE1	MXI1	CDKN2A	SLC6A14	BRCA2	GREM1	MIF	CTLA4	MAD1L1	HMOX1	NBN	DHX37	NTHL1	PHF6
HP_INGUINAL_HERNIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INGUINAL_HERNIA	PHGDH	CBS	CHRNG	ARSB	ODC1	VPS37D	IFT122	ABCD4	RPL10	CTCF	HES7	FOXE3	COL3A1	GPC4	IDS	C1R	LTBP4	NSD1	GNE	CTNND2	HMGA2	NOTCH1	IPO8	ALDH18A1	FGD1	AMH	XRCC4	LTBP1	SETD2	TNRC6B	TGFB2	ATAD1	GATA4	FBLN5	GNPTAB	PLOD1	METTL27	INPP5E	DVL3	FZD2	ELN	ELOVL4	DPH1	TBX1	ATP6V1A	ACTA2	SHPK	SLC26A2	ARID1B	FBXW11	C1S	GLI3	ATP6V0A2	WNT5A	GP1BB	MAT2A	TBX3	COL1A2	GTF2IRD1	MBTPS2	G6PC3	FBN1	GNS	MED12	RREB1	SHOC2	SKI	PIK3R1	ATP1A2	DGCR6	GZF1	KDM5B	UBA1	H19	GRIN2B	HSPG2	DSE	PIGQ	CDC42	CREBBP	FANCB	BCL7B	MEIS2	SEC31A	SLC2A10	MLXIPL	SMAD3	TMEM70	DVL1	NOTCH3	KMT2C	SMCHD1	PRDM5	LOX	NCF1	MYH3	SUZ12	CRKL	FGFR1	EFEMP2	BRF1	ISL1	TGFBR1	COL1A1	IDUA	SH3PXD2B	NALCN	NEU1	EHMT1	FKBP6	NPHP3	AGA	KIF7	DYRK1A	TXNL4A	DLK1	NAT8L	ARPC4	RFC2	DDX6	TBL2	APC2	SMAD4	TMCO1	RTL1	TP63	HEY2	PORCN	AMHR2	TGFB3	ARID1A	ADAMTS2	SMAD2	GTF2I	GLRA1	MDFIC	BRAT1	TUBB	BMPER	SGSH	ATP7A	MEG3	CLIP2	AEBP1	SLC37A4	MAPK1	CC2D2A	TRRAP	STRA6	MESP2	TMEM67	TMEM107	MID1	MAF	ROR2	TGFBR2	STX1A	SATB2	AUTS2	WDR19	DNAJC30	SLC10A7	FKBP14	RNF13	ESS2	DGCR2	GATA6	ARX	DLL3	CUL4B	COL5A2	EZH2	BCR	AP1S2	ATP6V1E1	NIPBL	RIPK4	PTDSS1	MYLK	YWHAE	SKIC3	GNB2	COL2A1	HIRA	PPP2CA	PLAG1	GLB1	SETBP1	PLD1	POGZ	PPP2R1A	FARSB	PACS1	SKIC2	TASP1	WASHC5	ARVCF	ADAMTSL2	DGCR8	CLCN4	FOCAD	PYCR1	PUF60	CHST3	TOR1A	P3H1	GDF11	TGDS	AR	GPC3	PIGY	PAFAH1B1	PIEZO2	BUD23	EED	FLNA	COMT	IRX5	BAZ1B	NOTCH2	CCDC22	RAB3GAP2	PLOD2	CDKN1C	IGF2	SEMA5A	SEC24C	CWC27	RPGRIP1L	RIC1	MAN2B1	FLI1	FLNB	EIF4H	POLR2A	TTC26	B3GLCT	NAA10	ZEB1	GTF2IRD2	LIMK1	MAPRE2	MFAP5	SET	SERPINH1	NXN	WDR35	LFNG	MYH11	TMEM270	OCRL	GDF1	SMARCA2	SRCAP	PRKG1	LDHD	NFIA	GPHN	SIN3A	JMJD1C	RIPPLY2	GALNS	KCNQ1OT1	B3GAT3	MED25	SMARCB1	OFD1	PIGS	DIS3L2	CHST14	COL5A1	KDM3B	ADNP	RPS6KA3	CLDN19	FIBP	UFD1	SLC5A6	GUSB	NDUFA8
HP_PROSTATITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROSTATITIS	HLA-DPA1	PRTN3	BTK	HGD	CTLA4	HLA-DPB1	PTPN22
HP_FUNCTIONAL_ABNORMALITY_OF_MALE_INTERNAL_GENITALIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FUNCTIONAL_ABNORMALITY_OF_MALE_INTERNAL_GENITALIA	CFAP43	M1AP	NANOS1	NR3C1	DNAJB13	FANCB	BLM	VPS37D	PNLDC1	CLDN2	SHOC1	CFAP47	CFAP58	UBE2T	KLHL10	KIT	PKD2	TAF4B	CFAP91	DAZ1	CHD7	DHH	CDC14A	NR5A1	ZMYND15	KISS1R	DNAAF4	SYCP3	RSPH3	SOX3	SUN5	ZFPM2	IFT74	MSH4	STK36	GCNA	ODAD4	DNAH17	METTL27	CFAP300	BRCC3	CTNS	USP9Y	TDRD9	STEAP3	SYCE1	HSFY1	CCDC65	SRY	CFAP45	CNBP	GTF2IRD1	MECP2	BPY2	WWOX	ERCC4	AIP	HFE	ERCC8	RBMY1A1	POC1A	KISS1	FOXJ1	ADGRG2	NME8	DCAF17	ZSWIM7	FANCM	PALB2	ODAD2	TEX11	TEX14	PMFBP1	DNAH1	DNAH5	FBXO43	HS6ST1	SLC26A8	BCL7B	SPAG1	MLXIPL	BRCA2	CDH23	TEX15	NCF1	CFAP410	NR0B1	SCP2	ABCD1	DNAH11	DUSP6	WFS1	CFAP221	RSPH4A	NEK10	RSPH9	WT1	SPINK2	TXNRD2	HYDIN	FKBP6	SPEF2	CFAP298	MSH5	CATSPER2	ZMYND10	CDY1	RSPH1	RAD51C	WDR11	RFC2	FANCD2	TBL2	TERB1	MCIDAS	TACR3	TERB2	LHCGR	RNF212	ANOS1	MAD2L2	XRCC2	TAC3	MCM8	GTF2I	GAS2L2	DNAAF2	PDHA2	FSIP2	FANCA	FANCI	MOV10L1	EIF2S3	DNAAF5	CEP19	CFTR	CLIP2	GNRHR	SOX9	BRIP1	NNT	DNHD1	PKD1	DDX3Y	AR	ERCC6	STAG3	CYP17A1	RFWD3	CDY2A	TTC29	STX1A	GBA1	STRC	GBA2	DNAJC30	SYCP2	DMRT3	ALMS1	DZIP1	FSHB	LRRC56	DAZ3	DAZ2	GAS8	OFD1	SLC29A3	DNAL1	IFT172	CCDC40	GANAB	FGFR3	MRAP	MEIOB	VAMP7	SPRY4	DHX37	DNAH8	BRCA1	RPS4Y2	POR	ANAPC1	GATA4	BCL10	DNAAF3	DNAH2	CCDC39	NSMF	C14orf39	FANCF	CISD2	SOHLH1	SPAG17	VCY	DNAAF1	ODAD3	BUD23	STAR	KDM5D	DNAH10	HSD3B2	ALG5	BAZ1B	HJV	DNAI2	PRY2	MAP3K1	ELN	BMP2	DNAH9	GNRH1	CCDC34	DNAJB11	CATIP	TTC12	MEN1	DNAAF11	ATM	RPGR	PROK2	WDR19	SLX4	DNAI1	EIF4H	CFAP70	TSPY1	GTF2IRD2	LIMK1	FANCL	CEP112	STK11	SEPTIN12	ERCC1	ANK1	BRDT	FGF8	RPL10L	TTC21A	AIRE	FGFR1	CCDC103	TMEM270	OCRL	CATSPER1	CCNO	FGF17	BICC1	LHB	MC2R	PDE11A	DNAAF6	CFAP65	SEMA3A	FANCE	FANCG	PRKAR1A	ARMC2	IFT140	POLA1	HNF1B	PROKR2	PRY	DRC1	RAD51	ALG9	ANTXR1	DAZ4	ODAD1	FANCC	CFAP69
HP_MALE_HYPOGONADISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALE_HYPOGONADISM	GNRH1	HS6ST1	CDH23	TACR3	WFS1	ANAPC1	FGF17	LHB	MEN1	TAC3	NR5A1	NSMF	MECP2	NR0B1	EIF2S3	PROK2	CHD7	DHH	CISD2	ERCC4	ABCD1	DUSP6	AIP	ERCC8	POLA1	SOX3	GNRHR	KISS1	SOX9	PROKR2	ERCC6	IFT172	ERCC1	CYP17A1	FGF8	WDR11	SRY	AIRE	FSHB	FGFR1	KISS1R	SPRY4	CTNS
HP_AZOOSPERMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AZOOSPERMIA	M1AP	NANOS1	SRY	DMRT3	FANCB	BLM	PNLDC1	CLDN2	SHOC1	FSHB	UBE2T	KLHL10	KIT	DAZ3	DAZ2	TAF4B	DAZ1	CHD7	NR5A1	ZMYND15	KISS1R	SYCP3	SLC29A3	ZFPM2	NR0B1	MSH4	CATSPER2	GCNA	FGFR3	MRAP	MEIOB	BRCC3	VAMP7	SPRY4	DHX37	USP9Y	TDRD9	ADGRG2	BRCA1	STEAP3	RPS4Y2	SYCE1	HSFY1	GATA4	BCL10	NSMF	C14orf39	FANCF	SOHLH1	BPY2	WWOX	VCY	HFE	RBMY1A1	STAR	KISS1	KDM5D	STRC	ZSWIM7	FANCM	HSD3B2	PALB2	TEX11	TEX14	HJV	PRY2	MAP3K1	BMP2	GNRH1	HS6ST1	CCDC34	BRCA2	TEX15	PROK2	SLX4	SCP2	DUSP6	TSPY1	WT1	SPINK2	ERCC4	FANCL	TXNRD2	STK11	MSH5	AR	ANK1	CDY1	RAD51C	FGF8	WDR11	DNAH9	XRCC2	FANCD2	DDX3Y	FGFR1	CFTR	FKBP6	TERB1	OCRL	TACR3	TERB2	FGF17	RNF212	ANOS1	LHB	MAD2L2	TAC3	MCM8	MC2R	PDHA2	FANCA	FANCI	MOV10L1	SEMA3A	FANCE	FANCG	CEP19	GNRHR	BRIP1	NNT	PROKR2	PRY	SOX9	STAG3	RAD51	RFWD3	DAZ4	CDY2A	FANCC	GBA1
HP_CRYPTORCHIDISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRYPTORCHIDISM	PROKR2	CHRM3	MKKS	SEMA3E	ODC1	VPS37D	MTMR14	CTCF	CUL4B	HS2ST1	RARB	CPLANE1	ZBTB20	RPGRIP1	GPC4	GRIA2	ZNF699	KISS1R	AR	B9D2	AMH	BMP4	SMARCB1	RNU4ATAC	FRAS1	PTPN11	SETD2	EHMT1	CAMK2A	PRKAR1A	FKRP	FZD2	CDT1	DPYSL5	MEGF8	NSD2	ACTG2	TSR2	STS	GP1BB	CYP17A1	SRY	SMARCA2	ATP6V1E1	MBTPS2	ZEB2	ANKRD11	XYLT2	CCDC141	GPR161	SKI	PTPRF	FANCC	HNRNPR	DAG1	UBA1	H19	ARID1B	PALB2	DSE	TUBA1A	CREBBP	POLR3A	CDC6	STAG1	LZTR1	TOPORS	BRCA2	POMT1	JAG1	DVL1	SMCHD1	DUSP6	PSMD12	GLE1	FGFR3	KAT6B	FGF10	GDF1	RIN2	WT1	MKS1	NKX2-5	LONP1	FKBP6	KIF7	ATAD3A	FGFR1	LARGE1	SOX3	KDM5C	IGBP1	ARID1A	GLI2	MAD2L2	ATN1	NDNF	CHD7	EBF3	COL4A1	SPRY4	ATP6V1A	IRF6	GJA5	RECQL4	ARX	CLP1	POMGNT2	GNRHR	MINPP1	BRIP1	AEBP1	NNT	EBP	DDX3Y	CDH2	COLEC11	TRRAP	SCYL2	NDN	EXT2	DHODH	MAP2K2	PPP1CB	FTO	STAC3	GATA6	RAD21	SOX10	LETM1	DLL3	HSPG2	SNORD115-1	EZH2	KDM6A	DAZ2	GABRD	STXBP1	PTDSS1	LAS1L	LHX4	UBR7	POLR1D	NR0B1	HNRNPK	TCTN3	DDB2	GSC	TCOF1	COL3A1	KMT2D	HESX1	SALL1	ERCC2	SAMD9	TCF4	PAX6	THOC2	CBL	NOTCH3	GATA4	MADD	GRB10	GK	WNT5A	CDH11	GMPPB	TTC5	TGDS	GPC3	FLT4	CCDC32	WNT3	SRCAP	TBCE	WDR37	VAC14	ERCC8	BAZ1B	DVL3	PAX2	DOK7	ZMIZ1	SEC24C	PHF6	FBLN1	FLI1	FEZF1	PEX16	EIF4H	CKAP2L	FKTN	TTC8	MCTP2	MAPRE2	ERCC6	DYRK1A	FGF8	KDR	NXN	SOX11	MAGEL2	POLR3K	HYMAI	IGF2	SCAPER	MC2R	FBXW7	CEP290	HNRNPH1	SLC35D1	SYNE1	GALT	FDFT1	SIM1	RAF1	ERCC5	WDR11	STRA6	ARNT2	PHIP	RPGRIP1L	PRKACB	FXR1	VPS35L	BRD4	HBA1	KAT5	SNRPN	SHOC2	LSS	MKRN3	NAA10	NSD1	NR5A1	HMGA2	GLI3	POLR1C	MYMK	KMT5B	TCTN2	MEG3	XRCC4	FGFR2	CRPPA	SEMA3A	DCC	OCRL	CTBP1	RRAS2	METTL27	TBX1	ORC6	POLD1	FGFRL1	NDUFB7	WDR62	G6PC3	MRAS	IFT80	RBMY1A1	CHD4	CPLX1	PEX1	DGCR6	KRAS	GTF2H5	GRIA3	OTUD6B	GRIN2B	WNT7A	TBC1D20	LMBR1	FLNA	PAICS	RAB23	PEX6	VANGL1	BCL7B	PEX19	CFAP418	NCF1	HNF1B	TRIP4	MYH3	SUZ12	BBS1	NUP88	RPL10	PTCH2	RAB3GAP2	NF1	BCOR	RERE	DLX4	SIN3A	TBX22	SDCCAG8	TMEM216	SMAD4	ARCN1	KDM1A	PEX13	HRAS	OPHN1	MUSK	HDAC8	SOS1	PAX7	TPM2	OGT	GPC6	FANCI	DKC1	TUBB	PIGG	FLRT3	B9D1	TOE1	HERC2	SMARCC2	SOX9	GMNN	PHGDH	BICRA	ROBO1	XRCC2	OCA2	ROR2	STT3B	ERCC3	NSUN2	DGCR2	ATRX	PLAGL1	SGPL1	STT3A	TRIM32	RYR1	DNAJC19	PEX11B	DTYMK	PRMT7	HIRA	GATA1	PRKCZ	BRAF	PEX12	SETD5	TAF6	POMT2	SOX4	VAMP7	EVC2	B3GALNT2	DHX37	DLK1	RAD51C	POR	SOX2	CEP152	EMG1	ARVCF	CLCN4	ORC1	FGD1	COG1	FANCF	GLI1	CARS1	BUD23	NFIX	SETBP1	CCDC174	SLC25A24	PEX2	NOTCH2	MAP2K1	CDKN1C	RAB3GAP1	PPP1R12A	RNF113A	AKR1C2	CWC27	TBL1XR1	OTX2	SIX6	CHST14	UBE2A	FANCM	UBE4B	ALG8	ANK1	DPF2	DPAGT1	PPP1R15B	JAM3	MAMLD1	TACR3	BBS4	JMJD1C	RIPPLY2	FANCE	FANCG	RAPSN	EFNB1	FAM149B1	ANAPC1	PEX26	CC2D2A	FGF17	SMS	NONO	PORCN	DAZ4	TBCK	HPSE2	RSPO2	MAP3K7	PIGN	BBIP1	CYP11A1	CHRNG	MECP2	PNPLA6	FANCB	ABCD4	HES7	AXL	UBE2T	RIT1	RTL1	CASZ1	KIAA0753	ZFPM2	DYNC2I1	CEP19	WDR35	DHCR7	PBX1	ATP6V0A2	NPHP1	TWIST2	BBS5	SMARCA4	SOS2	PHF8	LIG4	LMOD1	WWOX	ERCC4	MED12	RREB1	SRD5A2	KAT6A	POMK	NKAP	RRAS	SMC1A	KDM5B	PIEZO2	HS6ST1	CD96	TINF2	DIS3L2	TCTN1	ORC4	PRDM13	FREM2	CYP19A1	ALG12	GFM2	CDCA7	DYNC2H1	MLXIPL	NDP	TBX3	YY1	DHDDS	POU3F3	PTCH1	PRDM16	FARS2	PACS1	TXNRD2	C2CD3	HDAC4	FLNB	ASXL3	XPC	GTF2E2	APC2	PDPN	CDC42	FANCA	ANOS1	ATR	NALCN	MED13L	MTM1	PDE4D	CLIP2	FIG4	GATA5	KANSL1	CEP120	MESP2	RFWD3	FLG	KLHL15	SMARCD1	MID1	H1-4	VPS50	RXYLT1	PDE6D	BBS2	PROK2	DMRT3	ALKBH8	SLC16A2	FBN1	KMT2E	AP1S2	PWRN1	NRAS	RTTN	GNB2	CDC45	BDNF	PWAR1	MYLK	COLEC10	MRAP	SPRED2	BRCA1	TASP1	TMEM67	RAC1	GNRH1	DGCR8	DNMT3A	TSPYL1	PEX5	NSMF	DYNC2I2	UQCC2	STAR	ADARB1	B3GLCT	NFIB	CCDC22	MMP23B	COMT	ELN	CDK8	FUZ	EP300	LHX1	B4GAT1	IFT27	ACTB	CDON	USP7	TSPY1	ALX4	IL17RD	HUWE1	ZSWIM6	ERCC1	HBA2	SMARCE1	LFNG	RLIM	PLVAP	MBD5	DNM2	BRF1	MYH11	INSL3	POLA1	CILK1	KDM3B	KCNQ1OT1	DACT1	POLE	ANKLE2	SMARCAL1	FMR1	EIF5A	ADAT3	LMNB2	BLM	CLCN3	EIF2S3	COG5	TXNDC15	MYOD1	DDX59	FANCD2	BBS10	BBS12	TNRC6B	TMEM107	SPEN	RAB18	USP9Y	ALDH18A1	MTOR	NKX2-6	MYRF	LZTFL1	PSMC1	RORA	PHACTR1	PEX3	GTF2IRD1	H4C9	AFF4	TMEM94	KISS1	PRPS1	MYL11	MAPK1	ACTA2	TIAM1	CITED2	CPE	TMEM70	MRPS28	WDPCP	VPS13B	OFD1	SPECC1L	MASP1	TWIST1	MPLKIP	SLX4	LUZP1	UBR1	HYLS1	TMEM237	SLC19A2	EED	RFC2	ABL1	DDX6	TBL2	AMHR2	PPFIBP1	PACS2	POMGNT1	TAC3	GTF2I	KCNAB2	CCBE1	SIAH1	ZMYM2	HSD17B3	ALDH1A2	TFAP2A	RNF135	BIN1	NELFA	KDM6B	RBM10	KCNQ1	EVC	CYB5A	MAF	STX1A	SEC23A	AUTS2	CSPP1	DNAJC30	NPAP1	ESCO2	ESS2	INPPL1	CDC42BPB	DAZ3	NIPBL	IER3IP1	RIPK4	AKR1C4	PLAG1	IFT172	SNORD116-1	LMX1B	IFT74	RAC3	XPA	B4GALT7	TOGARAM1	TARS1	SRA1	PYCR1	SMC3	PEX10	PRIM1	SUFU	SLC26A2	DAZ1	ASH1L	POLR1B	ARL6	BRWD3	DNAJC21	RASA2	HSD3B2	IRX5	TP63	TMEM231	MAP3K1	SMOC1	ARID2	SATB2	MCM5	GRIP1	PEX14	MYF6	BBS7	TCF12	GTF2IRD2	LIMK1	FANCL	BBS9	LRIG2	SLC18A3	FAT4	HIBCH	NEDD4L	TMEM270	OTUD5	DYNC2LI1	PIK3C2A	PIGS	HOXD13	ADNP	RAD51	UFD1	BUB1B	PRKACA
HP_TESTICULAR_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TESTICULAR_ATROPHY	NHP2	HFE	WFS1	FGD1	POLG	AR	BMP6	ANOS1	SMS	TP53	TEX11	HPRT1	FSHB	DMPK	BMP2
HP_EPIDIDYMITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIDIDYMITIS	IGKC	UNG	BTK	IGHG2	PSMB8
HP_AMBIGUOUS_GENITALIA_MALE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMBIGUOUS_GENITALIA_MALE	SRD5A2	CYP11A1	MKS1	CYP17A1	HSD3B2	TSPYL1	CYB5A	WT1	SC5D	DHCR24	SRY	TBX15
HP_HYDROCELE_TESTIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYDROCELE_TESTIS	PIK3CA	SOX18	SPECC1L	GJC2	CREBBP	EZH2	MECOM	NSD1	SETD1A	ATAD3A	FOCAD	SLC25A10	MDFIC	MOGS	PIGN	PIEZO1	ANGPT2	ADAMTS3	ZEB2	DPH2	NAA10	PTEN	ZMYM2	FLT4	TBX1	PEX11B	SETD2	VEGFC	EP300	APC2	AKT1	EDEM3
HP_ABNORMAL_TESTIS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TESTIS_MORPHOLOGY	PROKR2	CHRM3	MKKS	SEMA3E	ODC1	VPS37D	MECOM	RGR	MTMR14	CTCF	CUL4B	IDH3A	HS2ST1	RARB	PRPF4	CPLANE1	KLHL10	ZBTB20	RPGRIP1	GPC4	GRIA2	ZMYND15	ZNF699	KISS1R	AR	B9D2	KCNJ6	AMH	BMP4	SMARCB1	RNU4ATAC	TERT	NDUFB11	FRAS1	PTPN11	SETD2	EHMT1	HFE	CAMK2A	PRKAR1A	FKRP	FZD2	CDT1	SLC7A14	BRCC3	DPYSL5	MEGF8	PCARE	NSD2	EDEM3	ACTG2	RNF113A	TSR2	STS	TCTN3	GP1BB	GNAS	CYP17A1	SRY	SMARCA2	ATP6V1E1	MECP2	MBTPS2	ZEB2	ANKRD11	XYLT2	CCDC141	GPR161	SLC39A4	SKI	PTPRF	FANCC	HNRNPR	DAG1	UBA1	H19	ARID1B	FANCM	PALB2	DSE	TUBA1A	ARX	DHX37	CREBBP	POLR3A	CDC6	STAG1	LZTR1	TOPORS	BRCA2	POMT1	JAG1	ARL3	DVL1	SMCHD1	CYP11B1	DUSP6	PIGN	PIEZO1	PSMD12	GLE1	FGFR3	RP2	KAT6B	LEPR	FGF10	GDF1	RIN2	WT1	MKS1	NKX2-5	LONP1	FKBP6	KIF7	CRB1	ATAD3A	FGFR1	LARGE1	HSPG2	SOX3	KDM5C	IGBP1	ARID1A	GLI2	TEX11	MAD2L2	XRCC2	ATN1	CDC73	NDNF	CHD7	EBF3	PQBP1	COL4A1	SPRY4	ATP6V1A	IRF6	GJA5	RECQL4	CLP1	POMGNT2	GNRHR	MINPP1	FMR1	SOX9	BRIP1	AEBP1	NNT	EBP	DDX3Y	CDH2	COLEC11	TRRAP	SCYL2	FLT4	NDN	IL12A-AS1	EXT2	NR2E3	PTEN	DHODH	MAP2K2	PPP1CB	FTO	IL1RAPL1	STAC3	GATA6	RAD21	SOX10	LETM1	DLL3	SNORD115-1	TULP1	EZH2	SNRNP200	KDM6A	DAZ2	GABRD	STXBP1	PIK3CA	PTDSS1	LAS1L	GJB3	LHX4	UBR7	POLR1D	NR0B1	HNRNPK	DDB2	GSC	TCOF1	COL3A1	SEMA4A	KMT2D	HESX1	SOX18	SALL1	PDE6A	ERCC2	SAMD9	TCF4	PAX6	THOC2	CBL	NOTCH3	DHH	GATA4	MADD	GRB10	NRL	GK	WNT5A	CDH11	GMPPB	TTC5	DICER1	TGDS	GPC3	USH2A	CCDC32	WNT3	SRCAP	TBCE	WDR37	TBX1	CDKN2A	VAC14	ERCC8	BAZ1B	BMP2	CCDC28B	DVL3	PAX2	MAP3K1	BEST1	DOK7	ZMIZ1	SEC24C	OTX2	SYCE1	PHF6	MOGS	IMPDH1	FBLN1	FLI1	C14orf39	PRPF8	FEZF1	PEX16	EIF4H	NR5A1	CKAP2L	FKTN	TTC8	MCTP2	MAPRE2	ERCC6	DYRK1A	FGF8	KDR	NXN	RPL10L	KLRC4	SOX11	AHI1	MAGEL2	KIZ	POLR3K	HYMAI	IGF2	SCAPER	NSMF	MC2R	FBXW7	CEP290	HNRNPH1	PDE6B	SLC35D1	IFT140	SYNE1	GALT	FDFT1	MAK	SIM1	RAF1	ERCC5	WDR11	POMGNT1	STRA6	ARNT2	PHIP	RPGRIP1L	PRKACB	FXR1	VPS35L	BRD4	CERKL	HBA1	KAT5	SNRPN	FAM161A	SHOC2	TSHB	IL10	LSS	GUCA1B	MKRN3	NAA10	NSD1	HMGA2	GLI3	POLR1C	RAB18	MYMK	KMT5B	MAP3K7	TCTN2	MEG3	XRCC4	FGFR2	CRPPA	SEMA3A	DCC	OCRL	CTBP1	RRAS2	METTL27	STAT4	ORC6	POLD1	FGFRL1	NDUFB7	HCCS	WDR62	G6PC3	MRAS	IFT80	RBMY1A1	CHD4	CPLX1	PEX1	PRPF3	RBP3	DGCR6	KRAS	PMM2	PDE6G	GTF2H5	GRIA3	TP53	OTUD6B	GRIN2B	WNT7A	TBC1D20	ERAP1	LMBR1	FLNA	PAICS	RAB23	PEX6	VANGL1	BCL7B	IFT172	ABCA4	PEX19	CFAP418	NCF1	CLIC2	HNF1B	TRIP4	MYH3	SUZ12	BBS1	NUP88	RPL10	PTCH2	RAB3GAP2	NF1	BCOR	RP9	IFNGR1	RERE	DLX4	SIN3A	TBX22	OFD1	SDCCAG8	TMEM216	SMAD4	ARCN1	USB1	KDM1A	PEX13	HRAS	OPHN1	SATB2	PROM1	MUSK	HDAC8	SOS1	PAX7	MCM8	TPM2	OGT	GPC6	FANCI	DKC1	TUBB	PIGG	FLRT3	B9D1	TOE1	HERC2	SMARCC2	GMNN	PHGDH	BICRA	ROBO1	OCA2	CBX2	ROR2	STT3B	ERCC3	NSUN2	POLG	DGCR2	ATRX	PLAGL1	FSHB	CNGA1	SGPL1	STT3A	TRIM32	RYR1	DNAJC19	DMPK	PEX11B	DTYMK	PRMT7	HIRA	SLC29A3	GATA1	PRKCZ	BRAF	C4A	PEX12	PROP1	SETD5	TAF6	POMT2	SOX4	VAMP7	EVC2	B3GALNT2	PRCD	DLK1	RAD51C	IL23R	POR	SOX2	CEP152	EMG1	ARVCF	CLCN4	FOCAD	MEFV	ORC1	FGD1	COG1	FANCF	SOHLH1	GLI1	CARS1	BUD23	NFIX	SETBP1	ARL2BP	CCDC174	SLC25A24	PEX2	TYMS	NOTCH2	MAP2K1	CDKN1C	SAG	RAB3GAP1	PPP1R12A	AKR1C2	CWC27	TBL1XR1	SIX6	CHST14	UBE2A	UBE4B	ALG8	HGSNAT	ANK1	DPF2	DPAGT1	MEIOB	PPP1R15B	JAM3	MAMLD1	TACR3	LHB	LARP7	BBS4	JMJD1C	PDE11A	RIPPLY2	TNFRSF1A	FANCE	FANCG	RAPSN	EFNB1	FAM149B1	ANAPC1	POU1F1	PEX26	CC2D2A	RPGR	FGF17	SMS	NONO	PORCN	AHR	DAZ4	TBCK	HPSE2	RSPO2	AKT1	BBIP1	CYP11A1	FSCN2	CHRNG	PNPLA6	FANCB	PNLDC1	ABCD4	CUL7	HES7	AXL	UBE2T	RBMX	TAF4B	RIT1	FBN1	RTL1	CASZ1	KIAA0753	ZFPM2	TLR4	DYNC2I1	B4GAT1	CEP19	PRPF31	WDR35	SPECC1L	DHCR7	FAM111A	EYS	PBX1	ATP6V0A2	NPHP1	TWIST2	BBS5	SMARCA4	SOS2	PHF8	LIG4	LMOD1	LHCGR	WWOX	ERCC4	MED12	RREB1	SRD5A2	PARN	KAT6A	POMK	NKAP	RRAS	BBS2	REEP6	SMC1A	KDM5B	PIEZO2	HS6ST1	DCAF17	CD96	TINF2	DIS3L2	TCTN1	GDF6	ORC4	PRDM13	FREM2	CYP19A1	ALG12	GFM2	CDCA7	ZDHHC9	DYNC2H1	MLXIPL	NDP	IMPG1	GJA1	TBX3	YY1	DHDDS	POU3F3	CLRN1	PTCH1	PRDM16	FARS2	PACS1	TXNRD2	C2CD3	AGA	AGBL5	HDAC4	FLNB	ASXL3	XPC	CTC1	GTF2E2	APC2	PRPH2	GJC2	RPE65	PDPN	CDC42	WRN	NPM1	MDFIC	FANCA	ANOS1	ATR	NALCN	MED13L	MTM1	PDE4D	CLIP2	FIG4	GATA5	KANSL1	CTDP1	LEP	CEP120	MESP2	RFWD3	FLG	KLHL15	SMARCD1	MID1	H1-4	VPS50	RXYLT1	PDE6D	GBA2	PROK2	DMRT3	BMP6	SPATA7	ALKBH8	SLC16A2	KMT2E	AP1S2	ADAMTS3	PWRN1	NRAS	RTTN	GNB2	HLA-B	CDC45	BDNF	ARHGEF18	WRAP53	PDE8B	PWAR1	MYLK	COLEC10	MRAP	SPRED2	BRCA1	TASP1	TMEM67	RAC1	GNRH1	DGCR8	DNMT3A	TSPYL1	PEX5	ROM1	DYNC2I2	UQCC2	STAR	ADARB1	B3GLCT	NFIB	CA4	CCDC22	MMP23B	ZNF513	RP1L1	RLBP1	COMT	ELN	CDK8	CCDC34	FUZ	EP300	LHX1	NANOS1	IFT27	KLHL7	ACTB	CDON	USP7	TSPY1	ALX4	IL17RD	HUWE1	ZSWIM6	ERCC1	HBA2	SMARCE1	LFNG	RLIM	PLVAP	MBD5	MERTK	DNM2	BRF1	MYH11	ZPR1	CRX	INSL3	POLA1	CILK1	FOXA2	KDM3B	KCNQ1OT1	LMNA	DACT1	POLE	ANKLE2	SMARCAL1	TERC	EIF5A	ADAT3	RP1	LMNB2	BLM	CLCN3	EIF2S3	COG5	TXNDC15	MYOD1	DDX59	FANCD2	PRPF6	BBS10	BBS12	TNRC6B	TMEM107	SPEN	TUB	HPRT1	RDH12	USP9Y	TDRD9	ALDH18A1	IMPG2	RSPO1	WFS1	MTOR	NKX2-6	MYRF	COX7B	LZTFL1	PSMC1	RORA	NHP2	PHACTR1	ANGPT2	PEX3	GTF2IRD1	H4C9	AFF4	NOP10	TMEM94	KISS1	PRPS1	VEGFC	MYL11	ZSWIM7	RTEL1	MAPK1	ACTA2	SLC34A2	TEX14	TIAM1	CITED2	CPE	TMEM70	MRPS28	KIAA1549	WDPCP	TEX15	SETD1A	VPS13B	SLC25A10	MASP1	DMRT1	NEK2	TWIST1	MPLKIP	SLX4	TBCD	LUZP1	UBR1	HYLS1	TMEM237	CDKN1B	SLC19A2	EED	RFC2	ABL1	DDX6	TBL2	AMHR2	PPFIBP1	PACS2	TAC3	GTF2I	CDHR1	KCNAB2	CCBE1	SIAH1	ZMYM2	HSD17B3	ALDH1A2	TFAP2A	RNF135	DMXL2	BIN1	NELFA	KDM6B	ARL6	RBM10	KCNQ1	EVC	CYB5A	MAF	STX1A	SEC23A	AUTS2	ATM	CSPP1	LRAT	DNAJC30	NPAP1	ESCO2	IFT88	ALMS1	ESS2	INPPL1	CDC42BPB	DAZ3	NIPBL	IER3IP1	RIPK4	CNGB1	AKR1C4	PLAG1	H4C5	SNORD116-1	SYCP3	LMX1B	IFT74	UPF3B	RAC3	IL12A	XPA	B4GALT7	TOGARAM1	GJB4	TARS1	SRA1	PYCR1	SMC3	PEX10	PRIM1	SUFU	SLC26A2	DAZ1	MDM2	ASH1L	POLR1B	BRWD3	DNAJC21	RASA2	ZNF408	HSD3B2	IRX5	TP63	TMEM231	SMOC1	ARID2	MCM5	GRIP1	PEX14	PRKACA	CCR1	MYF6	CHEK2	DPH2	BBS7	KDSR	TCF12	GTF2IRD2	LIMK1	FANCL	BBS9	RHO	LRIG2	SLC18A3	FAT4	HIBCH	IDH3B	NEDD4L	DHX38	TMEM270	OTUD5	DYNC2LI1	UBAC2	STK11	PIK3C2A	PIGS	KEAP1	CFTR	HOXD13	ADNP	EWSR1	RAD51	UFD1	BUB1B	FAS
HP_ABNORMAL_PENIS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PENIS_MORPHOLOGY	PROKR2	MKKS	SEMA3E	VPS37D	RGR	CTCF	CUL4B	IDH3A	SDHD	PRPF4	GPC4	OTX2	ZNF699	KISS1R	HYLS1	CEP41	RNASEH2C	PITX2	SMARCB1	TERT	NDUFB11	FRAS1	PTPN11	SETD2	EHMT1	LMOD3	CAMK2A	FKRP	FZD2	CDT1	SLC7A14	DPYSL5	MEGF8	PCARE	SEC23B	NSD2	RNF113A	GP1BB	CYP17A1	ADA2	DISP1	DYNC2H1	SRY	TAPT1	RPS28	TTC8	ZEB2	CCDC141	GPR161	CCDC8	OBSL1	NR5A1	PTPRF	HNRNPR	DAG1	UBA1	ARID1B	PALB2	HNF1B	RNASEH2B	DHX37	TWIST2	RPS29	CREBBP	POLR3A	CDC6	BRCA2	POMT1	ARL3	DVL1	SMCHD1	RPL35A	CYP11B1	DUSP6	PSMD12	WNT4	RP2	TBX22	PIGQ	SCUBE3	WT1	FKBP6	KIF7	CRB1	FGFR1	LARGE1	RNU7-1	SOX3	KDM5C	CSPP1	ARID1A	GLI2	POFUT1	MAD2L2	PIK3CA	BBS5	NDNF	CHD7	EBF3	COL4A1	SPRY4	ATP6V1A	EIF2S3	ARX	POMGNT2	GNRHR	MINPP1	BRIP1	CDH2	COLEC11	TRRAP	SIK1	NR2E3	DHODH	SPRED1	RAD21	GNA11	LETM1	DLL3	SNORD115-1	TULP1	FOXF1	ERMARD	EZH2	SNRNP200	KDM6A	GABRD	STXBP1	PTDSS1	RPL26	LHX4	HSD3B2	HID1	UBR7	GRM7	POLR1D	NR0B1	TCOF1	SEMA4A	INTU	KMT2D	HESX1	SALL1	PDE6A	SAMD9	TCF4	KLHL41	PAX6	THOC2	GATA4	MADD	GRB10	NRL	WNT5A	RSPO2	KIAA0586	INSR	CDH11	GMPPB	GPC3	CDKL5	USH2A	SIX3	TBCE	LSM11	WDR35	CTU2	VAC14	BAZ1B	RPS15A	CCDC28B	CCDC22	DVL3	BEST1	ZMIZ1	SEC24C	NOTCH2	ATAD3A	PHF6	IMPDH1	PRPF8	FEZF1	PEX16	EIF4H	PTEN	H4C11	MCTP2	MAPRE2	AR	LZTFL1	DYRK1A	FGF8	NXN	KLF1	PSPH	INPP5E	SOX11	AHI1	CARS1	KIZ	IGF2	KCNH1	SCAPER	SRCAP	NSMF	CEP290	MAGEL2	TOPORS	HNRNPH1	PDE6B	MED25	IFT140	FDFT1	MAK	SIM1	WDR11	FANCC	POMGNT1	NDUFA8	PRKACB	BRD4	CERKL	HBA1	KAT5	FAM161A	CENPT	COL3A1	LSS	GUCA1B	MKRN3	NAA10	NSD1	HMGA2	SUFU	KIFBP	GLI3	POLR1C	RAB18	XRCC4	CRPPA	SEMA3A	DCC	CTBP1	SSR4	GATA1	METTL27	MBD5	TBX1	ORC6	NDUFS4	PHF21A	FGFRL1	NDUFB7	KATNIP	TONSL	HCCS	SLC25A22	IFT80	TP63	GNAO1	CHD4	CPLX1	PEX1	PRPF3	RBP3	FANCL	PDE6G	GRIA3	WNT7A	TBC1D20	FAT4	FLNA	PAICS	PEX6	BCL7B	IFT172	ABCA4	ERCC2	PEX19	CFAP418	NCF1	HOXA13	SUZ12	BBS1	RPL10	RAB3GAP2	BCOR	RP9	RERE	SIN3A	OFD1	FAM111A	DCX	SDCCAG8	ARCN1	RAC1	USB1	KDM1A	UBE2A	PEX13	PRRX1	OPHN1	PROM1	HDAC8	SHH	OGT	PSENEN	FANCI	DKC1	TUBB	PIGG	SMG8	ERCC6	MLXIPL	FLRT3	KRT5	PTCH1	TOE1	HERC2	SMARCC2	SOX9	GMNN	BICRA	ROBO1	RPL18	PQBP1	XRCC2	RPL31	ROR2	STT3B	NSUN2	SCN1B	ATRX	CNGA1	SGPL1	STT3A	TRIM32	RNASEH2A	RYR1	DNAJC19	PEX11B	DTYMK	HIRA	SLC29A3	MAP3K1	PRKCZ	SETBP1	CLMP	PEX12	PNPLA6	SOX4	VAMP7	EVC2	B3GALNT2	FOXC1	PRCD	POR	SOX2	CEP152	WASHC5	ARVCF	FOCAD	ORC1	COG1	FANCF	SETD5	PAFAH1B1	GLI1	DCHS1	BUD23	NEK1	SMO	ARL2BP	SLC25A24	PEX2	TMEM63A	TYMS	MAP2K1	RPS20	CDKN1C	SAG	RAB3GAP1	PPP1R12A	SIX6	FANCM	TDGF1	UBE4B	FERMT1	DACT1	HGSNAT	PIGA	RPS17	ANK1	DPF2	AKT1	SAMHD1	ADAR	MAMLD1	TACR3	LHB	SOX10	NEUROD2	JMJD1C	RIPPLY2	FANCE	RNU4ATAC	FANCG	ALX4	EFNB1	PEX26	RPGR	FGF17	AHR	CHRNA3	PIGN	BBIP1	CYP11A1	FSCN2	CHRNG	MECP2	KAT6B	FANCB	FBXL4	CUL7	HES7	AXL	KIAA0753	UBE2T	CASZ1	ZFPM2	DYNC2I1	B4GAT1	CEP19	PRPF31	RPS24	TRIM8	DHCR7	HSPG2	RPS27	EYS	NPHP1	SMARCA4	TBL1XR1	LIG4	ZMPSTE24	WWOX	MED12	RREB1	SRD5A2	PARN	POMK	SCN2A	BBS2	REEP6	SMC1A	POMT2	KDM5B	HS6ST1	DCAF17	LAMA5	ORC4	PRDM13	FREM2	MED12L	ALG12	CDCA7	USP9X	STAR	IMPG1	B9D2	TBX3	DHDDS	CLRN1	ISL1	PRDM16	C2CD3	AGBL5	ARNT2	DMXL2	RAD51C	CTC1	PCNT	SKIC3	APC2	PRPH2	RPE65	PDPN	CDC42	RAF1	NPM1	FANCA	ANOS1	ATR	MTM1	GATAD2B	PDE4D	CLIP2	FIG4	PRKDC	LEP	MESP2	RFWD3	KLHL15	SMARCD1	MID1	RXYLT1	SC5D	SYNGAP1	PROK2	DMRT3	SPATA7	SPTBN1	EXT2	ALKBH8	SDHB	PWRN1	POGLUT1	RTTN	GNB2	CDC45	BDNF	ARHGEF18	WRAP53	ERCC8	PWAR1	COLEC10	ZIC2	CYB5A	BRCA1	GNRH1	SMS	TSPYL1	PEX5	ROM1	RPS19	B3GLCT	CA4	MMP23B	ZNF513	RP1L1	RLBP1	COMT	AFF4	ELN	FKTN	KRAS	EP300	PBX1	IFT27	KLHL7	ACTB	CDON	CASK	USP7	FOXH1	COX7B	IL17RD	HUWE1	ERCC4	HBA2	BRAF	SMARCE1	LFNG	RLIM	PIGP	MERTK	NDUFA6	BBS4	ZPR1	CRX	PUF60	MYH3	THOC6	GPR101	CILK1	KDM3B	RPS7	POLE	SDHC	TERC	ADAT3	RP1	LMNB2	TGIF1	GLYCTK	MYMX	COG5	LMNA	RPS26	FANCD2	PRPF6	BBS10	BBS12	RNU12	SPEN	ATP6AP2	ECE1	TUB	KLHL40	RDH12	SKI	IMPG2	RSPO1	MTOR	MYRF	AIP	PSMC1	NHP2	PEX3	GTF2IRD1	H4C9	NOP10	MBTPS2	NODAL	SMARCA2	TMEM94	KISS1	TINF2	RPL15	PRPS1	RPL11	RTEL1	CPE	TMEM70	MAB21L2	KIAA1549	WDPCP	RPL27	MYMK	SLC25A10	NEK2	PRKAR1A	LUZP1	UBR1	NEB	MKS1	RFC2	ABL1	RPS10	DDX6	TBL2	SMAD4	LHCGR	BLTP1	TAC3	GTF2I	DYNC2I2	GHR	CDHR1	KCNAB2	SIAH1	ZMYM2	TREX1	TFAP2A	NELFA	DLL1	ARL6	EPG5	EVC	STX1A	RPL5	KCNA1	LRAT	DNAJC30	NPAP1	ESCO2	IFT88	ALMS1	CDC42BPB	NIPBL	RIPK4	CNGB1	USF3	YWHAE	KARS1	ACTA1	PLAG1	SNORD116-1	LMX1B	IFT74	SUCLG1	MNX1	TOGARAM1	TSR2	SRA1	SMC3	PEX10	FGFR2	HERC1	POLR1B	EED	PIEZO2	ZNF408	ARL6IP6	ARID2	SATB2	GRIP1	PEX14	SLX4	KANSL1	ANKRD11	NKX2-1	BBS7	TCF12	GTF2IRD2	LIMK1	IFIH1	RBBP8	BBS9	RHO	GRIN1	IDH3B	DHX38	TMEM270	RPL35	OTUD5	GAS1	DYNC2LI1	DIS3L2	KLLN	HOXD13	RAD51	UFD1	BUB1B	PRKACA	PNKP	CYP21A2
HP_MALE_PSEUDOHERMAPHRODITISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALE_PSEUDOHERMAPHRODITISM	MAP3K1	CSPP1	CYP11A1	AKR1C2	WT1	DMRT1	RPGRIP1	CEP290	TXNDC15	AKR1C4	B9D2	SRY	TCTN2	HSD3B2	AMH	NDUFB11	ATRX	TCTN3	CYP17A1	TMEM107	TMEM237	HHAT	NR0B1	TMEM216	NR5A1	CYB5A	MNX1	AMHR2	TMEM67	DHX37	DHH	COX7B	HCCS	SOX9	HSD17B3	B9D1	CC2D2A	MKS1	AR	TCTN1	CBX2	TMEM231	RPGRIP1L
HP_EPISPADIAS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISPADIAS	TP63	CDC6	ORC6	DVL1	COX7B	WNT5A	HCCS	DYNC2LI1	ANKRD11	ISL1	GLI1	PTDSS1	CDC45	EVC2	ORC1	NDUFB11	GMNN	C2CD3	ORC4	PIEZO2	EVC	DVL3	FZD2	CDT1	PRKACA	KRAS	SRY	SMAD4	PRKACB
HP_LONG_PENIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_PENIS	AKT1	FGFR1	ESCO2	CYP11B1	GPR101	KCNH1	POLR3A	LHCGR	INSR	AIP	PTEN
HP_CHORDEE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHORDEE	HOXA13	CARS1	KDM1A	ZMYM2	PPP1R12A	CDC42BPB	MAP3K1	NDUFB11	DYRK1A	POR	ZEB2	FGFR1	ZNF699	PTDSS1	SRY	COX7B	HCCS
HP_HYPOGONADOTROPIC_HYPOGONADISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOGONADOTROPIC_HYPOGONADISM	PROKR2	MT-ND4	SMARCE1	PNPLA6	CCDC141	FGF17	SEMA3E	VPS37D	POU1F1	SNRPN	AXL	FGF8	MKRN3	CHD7	DUSP6	KISS1R	SOX3	GNRHR	POLG	CBL	RBM28	SEMA3A	HFE	DCC	RRAS2	METTL27	MAGEL2	MT-TH	MT-TL1	AIP	PTPN11	SMO	GTF2IRD1	NTN1	RRAS	MRAS	RNF216	KISS1	CHD4	RIT1	TAC3	PMM2	PDGFB	PRDM13	CPE	POLR3A	CTDP1	HS6ST1	BCL7B	MLXIPL	CDH23	SMCHD1	NCF1	DMRT1	POLR3B	PTCH2	BAP1	PTCH1	SPRY4	CTNNB1	LHX4	GLI2	AKT1	BRAF	FKBP6	WDR11	NR0B1	RFC2	RAD51	TBL2	MT-ND6	KRAS	NF2	LHX3	TACR3	DHX37	ANOS1	GTF2I	NDNF	GNRH1	RNU4ATAC	FLRT3	PROP1	MT-TS2	HERC2	CLIP2	HSD17B3	RAB3GAP2	HDAC8	DMXL2	NDN	MT-TQ	SOX9	STX1A	OCA2	CBX2	TFR2	DNAJC30	NPAP1	GJB2	PROK2	MT-ND5	BMP6	FGFR1	SNORD115-1	FEZF1	PWRN1	NRAS	PIK3CA	LAS1L	TERT	RAB3GAP1	SMARCB1	TYMP	SNORD116-1	MT-CO1	PWAR1	WT1	SOS2	RRM2B	HESX1	DHH	SOX2	SRA1	LIG3	REV3L	SPRED2	NSMF	SUFU	BUD23	PLXND1	RASA2	RAF1	BAZ1B	TP63	HJV	FSHB	ELN	BMP2	MAP3K1	POLA1	LZTR1	OTX2	MEN1	SIX6	TRAF7	MT-CO2	EIF4H	TCF12	IL17RD	GTF2IRD2	LIMK1	ANK1	MT-TF	DCAF17	NR5A1	TMEM270	POLR3K	LHB	SOX10	PCSK1	DNAL4	GPR101	FOXA2	MT-CO3	SOS1	MT-TW	SIM1	SRY	MT-ND1
HP_ABNORMALITY_OF_THE_SCROTUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_SCROTUM	NPAP1	GRIP1	STT3B	DMRT3	CHRNG	KAT6B	SEMA3E	SETBP1	ATRX	SNORD115-1	SNRPN	SPTBN1	PTRH2	STXBP1	STT3A	MKRN3	SRCAP	IER3IP1	RYR1	PWRN1	NR5A1	POGLUT1	HMGA2	MED12	CHD7	KIFBP	POLR1C	RAB18	HSD3B2	FGD1	BMP4	ZFPM2	PLAG1	POLR1D	FRAS1	NR0B1	SNORD116-1	TCOF1	FGFR2	PWAR1	COLEC10	LMX1B	PNPLA6	SALL1	VAMP7	MEGF8	DHX37	MAGEL2	CYB5A	SAMD9	MNX1	SPECC1L	FARSB	TBC1D20	MYRF	FLI1	GATA4	GLI3	TBX3	EFNB1	SRY	SMARCA2	ORC1	CDH11	METTL23	ZEB2	WWOX	SRD5A2	HOXA13	POLR1B	MAMLD1	LAMA5	WNT7A	SLC25A24	FREM2	POR	OCA2	MAP3K1	ACTB	ALG12	CREBBP	CDKN1C	MAPRE2	EP300	LHX1	ERCC2	PHF6	HNF1B	PSMD12	UPB1	DHCR7	WT1	NDN	AR	DYRK1A	ARCN1	FAT4	FZD2	TMCO1	IGF2	OPHN1	NECTIN1	ANOS1	POFUT1	BLTP1	ALX4	PSENEN	MAB21L1	TUBB	MTM1	IRF6	ORC6	NEXMIF	MYH3	KRT5	TOE1	HERC2	MINPP1	CILK1	SOX9	TSPYL1	TWIST2	TBX4	HOXD13	TRRAP	SIM1	CYP17A1	MID1	DACT1	PTEN	BUB1B	RAB3GAP2	AKT1
HP_SMALL_SCROTUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_SCROTUM	ALG12	NPAP1	GRIP1	MAGEL2	STT3B	MAPRE2	CHRNG	SNRPN	KAT6B	ERCC2	SETBP1	SNORD115-1	PHF6	STXBP1	STT3A	MKRN3	IER3IP1	OCA2	RYR1	DHCR7	PWRN1	MED12	POLR1C	RAB18	BMP4	NDN	POLR1D	FRAS1	NR5A1	SNORD116-1	TCOF1	PWAR1	ARCN1	LMX1B	PNPLA6	FARSB	TBC1D20	OPHN1	NECTIN1	ANOS1	GLI3	BLTP1	ALX4	TBX3	SMARCA2	TUBB	SRY	IRF6	ORC6	MYH3	SRD5A2	POLR1B	HERC2	CILK1	SOX9	TSPYL1	ATRX	TRRAP	SIM1	WNT7A	SLC25A24	FREM2	POR	RAB3GAP2
HP_BIFID_SCROTUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIFID_SCROTUM	CYB5A	MNX1	CDKN1C	IGF2	ZEB2	MAMLD1	SEMA3E	MYRF	SPTBN1	CDH11	AR	SRY	MTM1	IRF6	UPB1	DHCR7	SRD5A2	HMGA2	HOXA13	CHD7	KIFBP	HSD3B2	SALL1	SOX9	PLAG1	NR5A1	HOXD13	FGFR2	CYP17A1	COLEC10	FAT4	MID1	DACT1	POR	FZD2	BUB1B
HP_SHAWL_SCROTUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHAWL_SCROTUM	SAMD9	CREBBP	SPECC1L	EP300	LHX1	ATRX	TBX3	PTRH2	EFNB1	HNF1B	PSMD12	ORC1	FGD1	METTL23	NEXMIF	MED12	TWIST2	TBX4	LAMA5	DYRK1A	MID1	MEGF8	TMCO1
HP_MACROORCHIDISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACROORCHIDISM	AKT1	ZDHHC9	LHCGR	GNAS	CLIC2	PTEN	PDE11A	TSHB	RBMX	AGA	MECP2	PRKAR1A	NF1	MED12	FMR1	H4C5	CYP19A1	UPF3B	ARX	IL1RAPL1
HP_MICROPENIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROPENIS	LIG4	PROKR2	ADAT3	CCDC141	FGF17	KAT6B	LMNB2	SEMA3E	GLYCTK	EIF2S3	CUL4B	AXL	KIAA0753	CENPT	LSS	FGF8	COG5	MKRN3	CHD7	NR5A1	KISS1R	RAB18	CEP41	RNASEH2C	FANCD2	ZFPM2	B4GAT1	RNU7-1	GNRHR	XRCC4	EHMT1	SEMA3A	DCC	LMOD3	KDM6A	CAMK2A	ECE1	KLHL40	MBD5	ELN	DPYSL5	MEGF8	MAGEL2	RNF113A	THOC2	PHF21A	MYRF	TCF4	GLI3	PSMC1	KATNIP	CYP17A1	TBX3	DYNC2H1	SRY	TBL1XR1	TAPT1	SLC25A22	H4C9	ZEB2	WWOX	SRD5A2	ARX	SCN2A	TP63	KISS1	GNAO1	CHD4	MAMLD1	FANCL	INPP5E	HNRNPR	POMT2	UBA1	HS6ST1	DCAF17	GRIA3	LAMA5	GLI2	PRDM13	RNASEH2B	TWIST2	CPE	ALG12	FEZF1	POMT1	DVL1	SMCHD1	TRIM8	ERCC2	NDUFB11	LARGE1	DUSP6	B9D2	PSMD12	DHDDS	DHCR7	PIGQ	WT1	PTPN11	UBR1	NEB	C2CD3	FAM111A	DCX	DMXL2	DYRK1A	ARCN1	WDR11	FGFR1	DVL3	DDX6	KDM5C	UBE2A	OPHN1	TACR3	ANOS1	FKRP	CDH11	BLTP1	HDAC8	TAC3	BBS5	NDNF	EBF3	GNRH1	SPRY4	ATP6V1A	AR	ERCC6	MLXIPL	MTM1	FLRT3	TOE1	HERC2	MINPP1	TREX1	FIG4	PRKDC	CDH2	SOX9	LEP	KLHL15	SIK1	CYB5A	DHODH	ROR2	RAB3GAP2	HCCS	KCNA1	NPAP1	STT3B	PROK2	DMRT3	ALMS1	SCN1B	SETBP1	ATRX	CDC42BPB	SNORD115-1	SPTBN1	EXT2	FZD2	ALKBH8	KIF7	FANCB	SGPL1	STXBP1	STT3A	RNASEH2A	RIPK4	POLE	RYR1	PWRN1	MED12	DTYMK	OTX2	GNB2	CDC45	HSD3B2	HID1	SLC29A3	UBR7	GRM7	ACTA1	IFT172	NR0B1	ERCC8	SNORD116-1	PWAR1	INTU	COLEC10	KMT2D	LMX1B	PNPLA6	VAMP7	DHX37	KLHL41	TOGARAM1	HESX1	MADD	ARL6	POR	TBC1D20	GATA4	SOX2	SRA1	WNT5A	RSPO2	KIAA0586	ORC1	GMPPB	NSMF	CDKL5	HOXA13	HERC1	NEK1	TBCE	LSM11	SMO	USP7	CTU2	MID1	SLC25A24	CDC6	VAC14	MAP3K1	CCDC28B	PHF6	FRAS1	SATB2	PPP1R12A	PBX1	ATAD3A	SIX6	ACTB	CASK	COX7B	TCF12	PIGA	IL17RD	HUWE1	IFIH1	MCTP2	LZTFL1	FAT4	SAMHD1	ADAR	GRIN1	KLF1	RLIM	CDKN1C	PIGP	LHB	SOX10	NEUROD2	ZPR1	OTUD5	RNU4ATAC	ORC6	PIEZO2	ALX4	OFD1	THOC6	BBS1	SIM1	BUB1B	PNKP
HP_ABNORMALITY_OF_FEMALE_EXTERNAL_GENITALIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FEMALE_EXTERNAL_GENITALIA	BRD4	NR3C1	CYP11A1	CHRNG	KAT6B	SEMA3E	CTCF	SNRPN	MKRN3	DHH	FOS	NR5A1	TNXB	CASZ1	RAB18	ZFPM2	ORC1	NDUFB11	FRAS1	FGFR2	SPEN	DVL3	FZD2	CDT1	SKI	MAGEL2	HDAC8	DHCR7	ORC6	HSPG2	RSPO1	ARID1B	COX7B	WNT5A	TWIST2	SRY	HCCS	PEX3	LIG4	WWOX	SMARCA2	POC1A	PEX1	SMC1A	HNRNPR	FDXR	PMM2	CD96	ORC4	FREM2	CYP19A1	ECEL1	TBC1D20	CDC6	TRAIP	PEX6	ESR2	DVL1	SMCHD1	CYP11B1	SPECC1L	PEX19	RAB3GAP2	ISL1	PPARG	PRDM16	LUZP1	WT1	TALDO1	UBR1	MKS1	TP63	PEX13	PDPN	CHD7	ATR	IRF6	KCNAB2	TOE1	HERC2	MINPP1	GMNN	MOGS	SOX9	CAVIN1	PEX2	NDN	LMNA	ROR2	OCA2	UBE3B	NPAP1	RAD21	ESCO2	DMRT3	NSUN2	SETBP1	SNORD115-1	PLAGL1	PCNT	RERE	NIPBL	GABRD	RIPK4	FIG4	PWRN1	PEX11B	CDC45	BSCL2	INSR	NR0B1	SNORD116-1	MAP3K1	PWAR1	PRKCZ	PEX12	RAC3	ATIC	VAMP7	DHX37	POR	CEP152	GATA4	SMC3	PEX5	AR	PEX10	TBX15	B3GLCT	MMP23B	SLC25A24	HSD3B2	VAC14	ACTB	RAB3GAP1	PPP1R12A	AGPAT2	GRIP1	PEX14	PRKAR1A	LIPE	PEX16	UBE4B	PDE4D	PPP2R3C	NXN	HYMAI	GAD1	MYH3	DHCR24	PEX26	CXCR4	CCNQ	CAV1	PORCN	SIM1
HP_ABNORMALITY_OF_THE_CLITORIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CLITORIS	SRY	NPAP1	CYP11A1	ESCO2	DMRT3	DVL1	KAT6B	SNORD115-1	SNRPN	MKRN3	FOS	FIG4	PWRN1	NR5A1	FGFR2	PEX11B	CDC45	BSCL2	ZFPM2	ORC1	NDUFB11	INSR	NR0B1	SNORD116-1	MAP3K1	PWAR1	PEX12	RAB18	DVL3	FZD2	CDT1	ATIC	VAMP7	DHX37	MAGEL2	DHCR7	ORC6	UBE3B	RSPO1	ARID1B	POR	CEP152	COX7B	GATA4	WNT5A	HCCS	PEX3	PEX5	PEX10	WWOX	POC1A	PEX1	B3GLCT	FDXR	CD96	ORC4	PEX2	HSD3B2	VAC14	TBC1D20	OCA2	CDC6	TRAIP	PEX6	FRAS1	RAB3GAP1	PPP1R12A	AGPAT2	CYP11B1	PEX19	PEX14	PEX16	RAB3GAP2	ISL1	PPARG	WT1	NDN	TALDO1	UBR1	AR	PPP2R3C	TP63	PEX13	ATR	GAD1	TOE1	HERC2	MINPP1	PEX26	GMNN	CCNQ	SOX9	CAVIN1	CAV1	PORCN	SIM1	ROR2
HP_ABNORMAL_LABIA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LABIA_MORPHOLOGY	BRD4	NPAP1	RAD21	ESCO2	DMRT3	CHRNG	DVL1	KAT6B	SEMA3E	SETBP1	CTCF	SNORD115-1	SNRPN	PLAGL1	NIPBL	MKRN3	RIPK4	FIG4	PWRN1	NR5A1	CHD7	RAB18	BSCL2	ZFPM2	ORC1	NR0B1	SNORD116-1	PWAR1	FGFR2	GMNN	DVL3	FZD2	CDT1	ATIC	VAMP7	DHX37	MAGEL2	HDAC8	ORC6	UBE3B	POR	GATA4	WNT5A	TWIST2	SRY	INSR	SMC3	AR	WWOX	SMARCA2	B3GLCT	SMC1A	HNRNPR	PMM2	ORC4	SLC25A24	HSD3B2	VAC14	ECEL1	TBC1D20	OCA2	MAP3K1	ACTB	CDC6	ESR2	RAB3GAP1	SMCHD1	AGPAT2	LIPE	RAB3GAP2	WT1	NDN	CDC45	PPP2R3C	TP63	HYMAI	IRF6	GAD1	MYH3	HERC2	CCNQ	SOX9	PORCN	SIM1	LMNA	ROR2
HP_HYPOPLASTIC_LABIA_MAJORA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_LABIA_MAJORA	BRD4	CDC6	HDAC8	RAD21	ORC6	UBE3B	ESR2	DVL1	SMCHD1	WNT5A	SETBP1	CTCF	TWIST2	ORC4	ORC1	SMC3	NIPBL	RIPK4	IRF6	GAD1	FIG4	CDC45	B3GLCT	FGFR2	SMC1A	GMNN	PPP2R3C	SLC25A24	POR	VAC14	DVL3	ECEL1	FZD2	CDT1	ROR2	RAB3GAP2	TP63
HP_CLITORAL_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLITORAL_HYPOPLASIA	DVL3	CDC6	NPAP1	MAGEL2	RAB3GAP1	SNRPN	DVL1	SNORD115-1	MKRN3	OCA2	PWRN1	RAB3GAP2	B3GLCT	NDN	CDC45	ORC1	SNORD116-1	PWAR1	PPP2R3C	RAB18	FZD2	CDT1	ORC6	WNT5A	HERC2	POC1A	GMNN	PORCN	SIM1	ORC4	TBC1D20	ROR2
HP_AMBIGUOUS_GENITALIA_FEMALE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMBIGUOUS_GENITALIA_FEMALE	CYP11B1	HSD3B2	CYP19A1	MKS1	WT1	TNXB	DHCR24	SRY	TBX15
HP_AMBIGUOUS_GENITALIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMBIGUOUS_GENITALIA	CSPP1	SRY	NR3C1	TBC1D24	CYP11A1	DMRT3	TWIST2	BUB3	TGIF1	CEP57	RPGRIP1	RIPK4	NR5A1	TNXB	TXNDC15	ZNF699	AKR1C4	B9D1	B9D2	SUFU	GLI3	CEP41	SOX3	TCTN2	BDNF	HSD3B2	ZFPM2	DYNC2I1	NDUFB11	FRAS1	NR0B1	TCTN3	CYP17A1	TMEM107	GATA4	IGF2	FGFR1	WDR35	VAMP7	ZIC2	DHX37	CYB5A	GLI2	DHCR7	RSPO1	POR	TMEM67	MYRF	COX7B	DISP1	DYNC2H1	HCCS	TSPYL1	BUB1B	WWOX	SRD5A2	SIX3	TBX15	NODAL	ARX	IFT80	CKAP2L	NEK1	TOE1	CHD4	MKS1	FDXR	CTU2	TCTN1	FREM2	WT1	CYP19A1	TMEM231	MAP3K1	TRAIP	VANGL1	FUZ	IFT81	AKR1C2	PBX1	CYP11B1	GRIP1	TRIP13	TDGF1	WNT4	CEP290	FOXH1	ATRX	AR	TMEM237	TMEM216	CDON	FZD2	NR2F2	SHH	DYNC2I2	PAX6	GAS1	IRF6	SOX9	DHCR24	PTCH1	ATP6V1B2	MINPP1	CILK1	HSD17B3	CC2D2A	HOXD13	CEP120	DLL1	FGF8	BUB1	SC5D	RPGRIP1L
HP_HYPOPLASTIC_LABIA_MINORA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_LABIA_MINORA	MAGEL2	CDC6	NPAP1	ORC6	RAB3GAP1	SNRPN	DVL1	WNT5A	SETBP1	SNORD115-1	TWIST2	ORC1	MKRN3	OCA2	GAD1	PWRN1	RAB3GAP2	NDN	RAB18	HERC2	CDC45	GMNN	SNORD116-1	PWAR1	SIM1	ORC4	DVL3	FZD2	CDT1	TBC1D20	ACTB
HP_LABIAL_HYPERTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LABIAL_HYPERTROPHY	HYMAI	ESCO2	INSR	BSCL2	LMNA	KAT6B	AGPAT2	PLAGL1
HP_URETHRAL_ATRESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETHRAL_ATRESIA	CSPP1	TCTN2	TMEM67	CC2D2A	MKS1	FRAS1	TCTN3	GRIP1	TMEM107	FANCB	TMEM237	TCTN1	TMEM216	FREM2	RPGRIP1	TP63	CEP290	ZIC3	TXNDC15	TMEM231	B9D1	RPGRIP1L	B9D2	WNT3
HP_ABNORMALITY_OF_THE_URETER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_URETER	PIGN	BCOR	CHRM3	MYLK	SEMA3E	FANCB	VPS37D	STIL	HAAO	HS2ST1	SASS6	HES7	UBE2T	DEAF1	HNRNPU	RPGRIP1	FLNA	PHC1	B9D2	PPP3CA	RNU4ATAC	SETD2	AVPR2	BNC2	PIGL	IGF2	IFT140	SPOP	ACTG2	SIX1	COL18A1	DHCR7	MNX1	PBX1	GP1BB	LONP1	KIF14	SOS2	LMOD1	ITGA6	MBTPS2	ZEB2	EXT1	ZMPSTE24	RREB1	SCN2A	STAMBP	SMC1A	TCTN1	HSPG2	PALB2	TRAPPC14	ANKLE2	POLR3A	MLXIPL	BRCA2	NADSYN1	KMT2C	TRPS1	PRTN3	PSMD12	TP63	HSPA9	FGFR3	CEP290	YY1	ISL1	ERCC8	FGF10	GRHPR	TBX1	PIGQ	MKS1	HLA-DPB1	GATA6	EHMT1	FKBP6	DMXL2	GREB1L	FLII	RAD51C	NCAPG2	HNRNPK	APC2	FANCF	MAD2L2	CENPJ	EBF3	FANCA	RAI1	PIGO	GNB1	CLIP2	DCDC2	BRIP1	KANSL1	NCAPD3	TRRAP	MESP2	FGFR2	RFWD3	MID1	SIK1	CIT	EYA1	TAF13	RAD21	DLL3	PAX6	RERE	FOXF1	PAK2	KDM6A	CHD7	CDC45	NAA10	GRM7	TCTN3	KMT2D	CDKN1C	SALL1	ATP7A	BRCA1	EPG5	TMEM67	ACTB	NSD1	CDK6	DDB1	GPC3	CDKL5	FANCI	B3GLCT	UMPS	ATRX	PIGT	SLC6A17	UNC45A	MCPH1	CDK5RAP2	GATA3	COMT	ASXL1	BAZ1B	BPTF	AFF4	ELN	KRAS	RARB	DVL3	PAX2	KIFBP	RIPK4	SLC35A2	FUZ	LHX1	ZMIZ1	SEC24C	GPC4	BICC1	ASPM	SDHAF1	CASK	EIF4H	SHANK3	MFSD2A	ERCC4	MAP3K7	SALL4	TBX18	CEP135	LFNG	APRT	SDHD	PIGP	NFIA	HLA-DPA1	MYH11	SLC22A12	CEP63	HNF1B	CCNQ	NDUFAF3	KCNQ1OT1	DACT1	FANCC	STRA6	PLEC	ARNT2	RPGRIP1L	PRKACB	BRD4	SH2B1	KAT5	EDNRA	TNXB	TXNDC15	LMNA	TCTN2	TRAPPC10	MCM7	LTBP1	PYCR2	TMEM107	FBLN5	ERCC6	METTL27	HDAC8	WFS1	ARID1B	AQP2	STK11	GTF2IRD1	SLC25A22	MYOD1	H4C9	CPT2	NRIP1	GNAO1	CHD4	LRIG2	PRPS1	JAG1	ACTG1	CTLA4	RPL11	MYCN	VANGL1	BCL7B	MAPRE2	CREBBP	TRIM8	MAPKAPK5	NCF1	HOXA13	SPINT2	FAM20C	KNL1	EFEMP2	IQSEC2	BRF1	ARX	TMEM237	TMEM216	RFC2	FANCD2	RBCK1	NPHP3	DDX6	PEX6	TBL2	NECTIN1	CDH11	SOS1	COPB2	GTF2I	MED12	B9D1	CCBE1	RALGAPA1	ZMYM2	WDR62	CEP55	KCNQ1	XRCC2	STX1A	ITGB4	KCNA1	CSPP1	DNAJC30	FIBP	SCN1B	SETBP1	SIX5	NIPBL	LAMB3	MKKS	PRMT7	HPSE2	HIRA	RAB23	GLI3	RECQL4	SDHB	PLD1	EVC2	RBM8A	POR	DNMT3A	ARVCF	PUF60	SMC3	AXIN1	SF3B2	GLI1	BUD23	ROBO2	SLC26A1	PIEZO2	SOX17	TMEM231	UBE2A	FANCM	LAMC2	SLX4	SDHA	PLXNA1	KCTD1	NKX2-1	PIGA	GTF2IRD2	LIMK1	FANCL	CEP152	GRIN1	TMEM270	DSTYK	METTL5	NEUROD2	LAMA3	JMJD1C	RIPPLY2	OTUD5	FANCE	DYNC2LI1	FANCG	ALG9	CC2D2A	PTPN22	PORCN	RAD51	NODAL	UFD1	CHRNA3	EVC	PRKACA	PNKP	EP300
HP_URETEROCELE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETEROCELE	KCNA1	ITGB4	MAPRE2	PIGP	LHX1	TRIM8	SCN1B	NEUROD2	LAMA3	HNF1B	LAMC2	SLC25A22	ITGA6	LAMB3	CASK	CDKL5	SCN2A	GNAO1	PIGQ	GRM7	ARX	DMXL2	SIK1	TP63	GRIN1	PLEC	PNKP	PEX6
HP_URETERAL_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETERAL_STENOSIS	DHCR7	SLC35A2	DSTYK	NSD1	CDH11	SETBP1	EYA1	HLA-DPA1	PRTN3	HOXA13	SIX5	KDM6A	KMT2D	MYOD1	YY1	GNB1	SF3B2	BRF1	ZMYM2	HNF1B	HLA-DPB1	PIGT	PTPN22	SETD2	TBX18	FLNA	SLC26A1	SIX1	PIGL	NODAL	CTLA4	APC2
HP_HYDROURETER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYDROURETER	BCOR	CHRM3	RIPK4	MYLK	BRCA2	FANCB	GPC4	SETBP1	HS2ST1	FOXF1	UBE2T	FANCM	LAMC2	FAM20C	SMC3	EDNRA	LAMB3	NAA10	SLX4	MKKS	PIGT	HPSE2	ERCC8	RNU4ATAC	RAB23	ERCC4	FANCL	ACTG2	GLI3	TBX18	AVPR2	ERCC6	RAD51C	PLD1	FANCD2	EVC2	BRCA1	WFS1	ARID1B	ACTB	AQP2	MAD2L2	LONP1	MED12	SOS2	LAMA3	MYH11	FANCA	FANCI	LMOD1	DDB1	GPC3	MBTPS2	FANCE	DYNC2LI1	FANCF	FANCG	GLI1	BRIP1	PIGN	NDUFAF3	RAD51	RFWD3	XRCC2	PIEZO2	ACTG1	PALB2	FLNA	FANCC	SOX17	TP63	EVC	PRKACA	PRKACB
HP_URETERAL_DUPLICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETERAL_DUPLICATION	CSPP1	FIBP	VANGL1	FUZ	GATA6	GPC4	PBX1	PIGN	SPINT2	PAK2	PSMD12	RPGRIP1	CEP290	TXNDC15	LMNA	B9D2	COL18A1	B3GLCT	KCTD1	TCTN2	TCTN3	SETD2	TMEM107	TMEM237	TMEM216	IFT140	APC2	RBM8A	TMEM67	NSD1	SOS1	AXIN1	GPC3	CPT2	ZMPSTE24	B9D1	CC2D2A	MKS1	SLC6A17	PORCN	TCTN1	NODAL	TMEM231	RPGRIP1L
HP_URETEROPELVIC_JUNCTION_OBSTRUCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETEROPELVIC_JUNCTION_OBSTRUCTION	DHCR7	SLC35A2	DSTYK	NSD1	EYA1	HOXA13	SIX5	KDM6A	KMT2D	MYOD1	YY1	GNB1	SF3B2	BRF1	ZMYM2	HNF1B	SETD2	TBX18	SLC26A1	SIX1	PIGL	APC2
HP_RENAL_DUPLICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_DUPLICATION	COL18A1	TMEM270	DNAJC30	KANSL1	BCL7B	ITGB4	MLXIPL	RPS26	VPS37D	DVL1	GP1BB	GTF2I	NCF1	WNT5A	GPC4	GTF2IRD1	ITGA6	ZEB2	FOXC2	EIF4H	GP1BA	B3GLCT	KCTD1	BUD23	CLIP2	FANCD2	GTF2IRD2	LIMK1	GP9	SLC6A17	FKBP6	METTL27	RFC2	STX1A	BAZ1B	GPC3	PLEC	ROR2	ELN	TBL2
HP_ABNORMALITY_OF_REPRODUCTIVE_SYSTEM_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_REPRODUCTIVE_SYSTEM_PHYSIOLOGY	PROKR2	MT-ND4	CIDEC	F13A1	ITGA2B	SEMA3E	VPS37D	POU1F1	YARS1	RGR	CUL4B	SHOC1	IDH3A	PRPF4	KLHL10	KIT	ZBTB20	DAZ1	DUSP6	ZMYND15	KISS1R	AR	BTG4	SYCP3	TERT	RSPH3	BMP4	NUP107	PTPN11	MSH4	RTN2	SETD2	HFE	FMR1	PRKAR1A	DNAH17	CDKN1B	SLC7A14	BRCC3	ATXN8OS	PCARE	GP1BA	H6PD	STEAP3	RASGRP1	GNAS	CYP17A1	PSMC3IP	SRY	LMNA	DCC	CNBP	DBH	TTC8	EIF2B5	MECP2	TRAF3IP1	CCDC141	GPR161	CCDC8	AIP	DHH	SLC39A4	OBSL1	CAMKMT	PADI6	FANCC	GP9	TSGA10	LARS2	TWNK	FANCM	COQ2	PALB2	NIN	RCBTB1	DNAH1	DHX37	POLR3A	SLC26A8	SLC3A1	ALMS1	BRCA2	VPS4A	ERCC5	ARL3	SMCHD1	WT1	TP63	CFAP410	VWF	TTR	USP8	RP2	MEN1	GGN	DNAI1	AMACR	CFAP221	LEPR	BBS7	RIN2	IGF1	FKBP6	MSH5	ZMYND10	CRB1	MGME1	NOBOX	FLI1	MEI1	DPY19L2	EIF2B4	FGF17	MCIDAS	LHX3	TEX11	MAD2L2	XRCC2	BBS5	GAS2L2	NDNF	SLC37A4	CHD7	FSIP2	CFAP300	HBB	SPRY4	EIF2S3	RECQL4	GNRHR	CEP164	SOX9	BRIP1	GALT	RSPH4A	NNT	PKD1	DDX3Y	MRE11	PNPLA6	USP48	DIAPH1	CAVIN1	PEX6	NDN	CFAP298	NR2E3	AK7	TFR2	RAD21	CFAP52	MT-ND5	ERAL1	PPP2R3C	DZIP1	SNORD115-1	PPM1B	TULP1	SPATA16	SNRNP200	DAZ2	GABRD	GCM2	F5	LAS1L	TUBB8	OFD1	GHR	LHX4	SMARCB1	NBN	NR0B1	DDB2	CCDC62	SEMA4A	HESX1	NBEAL2	PDE6A	ERCC2	SAMD9	SLC40A1	ABCD1	RRM2B	RPS4Y2	CFTR	WDR19	GATA4	NRL	STAT3	POLG	C14orf39	CISD2	USH2A	DNAAF1	PLXND1	HEXB	ERCC8	BAZ1B	PRY2	BMP2	CCDC28B	MAP3K1	F2	BEST1	DNAJB11	CATIP	ZP1	LZTR1	FIGLA	OTX2	SYCE1	PHF6	UBAP1	IMPDH1	PRKCD	RPGR	CATSPER2	PRPF8	FEZF1	WRN	EIF4H	NR5A1	ZSWIM7	DNM1L	TTI2	SNCA	IL17RA	HAMP	LZTFL1	MT-TF	FGF8	RPL10L	AIRE	AHI1	SNRPN	CCDC103	MAGEL2	TTC12	KIZ	POLR3K	PHKG2	IGF2	FOXL2	CCNO	SCAPER	CEP290	C2CD6	ZP3	NSMF	CCDC34	MC2R	PARK7	CFAP65	ITGB3	TOPORS	PDE6B	NUMA1	WEE2	STUB1	PTDSS1	MCM3AP	IFT140	CAV1	MAK	SIM1	USP9Y	CCDC39	FAS	WDR11	POMGNT1	PLAU	CFAP43	BRD4	NR3C1	PODXL	CERKL	DNAJB13	CLDN2	FAM161A	SACS	ZNRF3	GUCA1B	BBS10	MKRN3	CFAP91	CDC14A	HMGA2	F11	TGFB1	SUN5	F13B	MRPS22	PROP1	RBM28	GCNA	SEMA3A	RRAS2	METTL27	F7	AMH	WNT4	HSFY1	MT-TH	CLEC7A	POLD1	BLOC1S5	TP53	BPY2	MRAS	IRF4	RBMY1A1	CHD4	FOXJ1	PRPF3	RBP3	NME8	PMM2	PDE6G	LHCGR	PDGFB	VPS13C	ODAD2	TRIM32	ASTL	FBXO43	PLIN1	BCL7B	IFT172	ABCA4	HLA-B	CFAP418	NCF1	PLCZ1	TKT	BBS1	POLR3B	PTCH2	DNAH11	WFS1	RP9	NEK10	CYP11B1	GLI2	BRAF	HYDIN	SPEF2	PPARG	EIF2B1	SDCCAG8	FASLG	TERB1	LMAN1	KRAS	BMP15	POLR3H	NECTIN1	BBS2	PROM1	HDAC8	MCM8	DNAAF2	FANCI	MOV10L1	RARA	RNU4ATAC	FLRT3	ERCC4	IL17F	MNS1	HERC2	DIAPH2	RAB3GAP2	DNAAF5	DNHD1	MSTO1	MRPS7	THOC6	ROBO1	CDH23	CDKN2C	STAG3	BMPR1B	GBA1	OCA2	CBX2	GJB2	FGFR1	ZPBP	FGB	GP1BB	FSHB	CNGA1	SGPL1	NABP1	DMPK	RAB3GAP1	SLC29A3	TAF4B	MT-CO1	PRKCZ	FGFR3	VAMP7	DNAH8	MKKS	PRCD	POR	NPM1	CYP19A1	FANCF	AGGF1	SOHLH1	TLE6	BUD23	PEX10	KDM5D	ARL2BP	SOST	RSPH1	ITGA8	DNAH10	STRC	HPS5	RAF1	GATA3	MAP2K1	DNAH9	GALC	CDKN1C	SAG	GUCY1A1	AGPAT2	DNAAF11	SIX6	PIGA	ESR1	TDRD9	POLR1C	LIPE	DNAI2	UBE4B	HGSNAT	ERCC1	ANK1	BRDT	MEIOB	C11orf80	CATSPER1	TACR3	DNAAF3	LHB	SOX10	PEX1	BBS4	PDE11A	PCSK1	FANCE	TEX14	PGR	FANCG	ANAPC1	MT-CO3	PRY	DNAJC6	IL17RC	TBL1XR1	FSHR	AHR	DAZ4	ODAD1	MT-ND1	BBIP1	CYP11A1	FSCN2	IRF2BP2	WIPF1	SMARCE1	CHRNG	FANCB	PNLDC1	CFAP47	AXL	CFAP58	UBE2T	FIP1L1	HTT	CASZ1	SLFN14	ZFPM2	CEP19	PRPF31	IFT74	CHRM3	F8	STK36	PRKN	CTNS	STAT5B	HSPG2	EYS	NPHP1	MT-TL1	NPHP3	CCDC65	EIF2B3	SMO	SPIDR	REC114	WWOX	RRAS	REEP6	RNF216	ADGRG2	SMC1A	MYH9	RIT1	TAC3	HS6ST1	DCAF17	SYNJ1	PRDM13	FCGR2A	DNAH5	ARSL	HLA-DQB1	SPAG1	MLXIPL	LMNB1	NDP	IMPG1	PSMD12	TBX3	CLPP	CLRN1	TRAF3IP2	BAP1	PTCH1	CTNNB1	RSPH9	PRDM16	SPINK2	TXNRD2	IKZF1	AGBL5	RAD51C	MCM9	SERPINE1	UCHL1	XPC	WAS	APC2	ZFHX4	PRPH2	MT-ND6	NF2	BBS9	TERB2	RPE65	PDPN	BLOC1S3	IFT27	FANCA	INPP5K	ANOS1	HSD17B3	SRD5A2	MT-TS2	CLIP2	BCOR	CTDP1	LEP	ERCC6	DHDDS	RFWD3	CDY2A	MT-TQ	PML	GBA2	PROK2	DMRT3	BMP6	SPATA7	ACTL9	CCN2	PWRN1	GAS8	NRAS	IL17RD	ARHGEF18	PDE8B	TYMP	PWAR1	HTRA2	MRAP	PATL2	DNAAF6	EIF2B2	BRCA1	NSD1	GNRH1	MPLKIP	LIG3	FGG	REV3L	DNAH2	ROM1	SPAG17	VCY	IRF5	ODAD3	STAR	ATRX	CA4	MMP23B	F10	ZNF513	RP1L1	RLBP1	BLM	HJV	BPTF	ELN	HLA-DQA1	AKT2	POLA1	LSS	NANOS1	BBS12	GGPS1	ATM	HFM1	KLHL7	CDON	TRAF7	SIL1	TSPY1	HLA-DRB1	POF1B	DAZ3	STK11	BSCL2	TTC21A	ATP7B	CDKN1A	PRLR	OCRL	MERTK	ARMC5	ALX4	LRRK2	CRX	B4GALNT1	MYH3	GPR101	HNF1B	FOXA2	SOS1	ANTXR1	POLE	COL25A1	PMFBP1	HSD17B4	FGA	LIG4	M1AP	PHGDH	RP1	PKD2	FOS	ZP2	DNAAF4	PHKA2	SOX3	FANCD2	PRPF6	CBL	SPEN	ODAD4	TUB	DMXL2	RDH12	SKI	HSF2BP	PREPL	IMPG2	CFAP45	HPS4	GTF2IRD1	PAPSS2	NTN1	POC1A	KISS1	PINK1	CDKN2B	SLC34A2	ERCC3	CPE	KIAA1549	ESR2	WDPCP	TEX15	GDF9	DMRT1	NEK2	PSMB8	SCP2	LUZP1	AKT1	STS	CDY1	MKS1	PRKACG	RFC2	RAD51	QRICH2	TBL2	SMAD4	POLG2	TBL1X	SLC25A13	RNF212	PANX1	GALK1	GTF2I	PDHA2	AHSG	CDHR1	KCNAB2	ARL6	HARS2	PRORP	CYB5A	TTC29	STX1A	LRAT	DNAJC30	NPAP1	SYCP2	IFT88	MDM2	RERE	LRRC56	CUL7	IER3IP1	CNGB1	ZBTB16	PIK3CA	BNC1	WNT7A	DNAL1	PLAG1	SNORD116-1	ANAPC7	CCDC40	BCS1L	GANAB	AURKC	XPA	NPHP4	SOS2	ITGB6	CACNA1G	SOX2	CCR6	SRA1	BCL10	SMC3	SPRED2	SUFU	MCFD2	ZMPSTE24	GP6	TRIP13	PDE4D	USP7	RASA2	ZNF408	HSD3B2	ALG5	SNAP29	PRKACA	SLX4	MT-CO2	SQSTM1	CFAP70	NIPBL	CASP10	AMHR2	TCF12	ALG1	GTF2IRD2	LIMK1	FANCL	CEP112	CFAP251	SEPTIN12	RHO	SLC2A3	OPA1	CDKN2A	CHP1	IDH3B	DHX38	TMEM270	AARS2	TRMT10A	CFAP44	BICC1	INVS	PHKB	ARMC2	DNAL4	DRC1	MT-TW	ALG9	IQCB1	CFAP69
HP_DUPLICATED_COLLECTING_SYSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUPLICATED_COLLECTING_SYSTEM	COL18A1	IARS1	FANCE	TNXB	PSMC1	FANCA	LAMA3	LAMC2	KDM6A	OTUD5	KMT2D	LAMB3	DHCR7	SHOC2	FANCD2	PIGA	POGZ	TELO2	FANCC	JAG1	MAPK1	PIGL	TP63
HP_RENAL_INSUFFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_INSUFFICIENCY	CEP290	HPRT1	CFI	FANCB	NPHP4	LMX1B	VPS37D	IFT122	UBE2T	KYNU	ZNF699	MYOCD	CPT2	CFH	TMEM67	GATM	SLC41A1	TLR4	CHRM3	SETD2	MT-TK	AVPR2	ALG1	THBD	APOL1	IFT140	GLIS2	DZIP1L	CLCNKA	CTNS	SHPK	CFB	ZNF592	RASGRP1	PBX1	NPHP3	BBIP1	AVIL	PUS3	TRAF3IP1	ALOX12B	ERCC4	TTC21B	WT1	XPNPEP3	SMC1A	PALB2	HNF1B	PKD1	CLCN5	RPGRIP1L	DYNC2I2	MLXIPL	ALMS1	BRCA2	MYO1E	DYNC2I1	PGK1	PRTN3	LAMA5	SPRY2	CLDN10	MAGI2	DHDDS	COL4A3	GLA	MAFB	GCM2	ERCC8	GRHPR	MEFV	NUP205	RMND1	SLC3A1	HPS1	HLA-DPB1	B2M	EHMT1	FKBP6	IKZF1	NPHS1	CC2D2A	KIAA0586	RAD51C	HRAS	IFT43	SULT2B1	RNU7-1	LAGE3	APC2	DNAJB11	CSPP1	PAX2	BBS9	PYGM	FN1	MAD2L2	IFT27	SMARCAL1	CDC73	SLC37A4	TGM1	FANCA	ACTN4	TRPC6	COQ6	COL4A1	SLC30A9	ANKS6	SAA1	COL4A5	MMUT	CLIP2	CEP164	TPRKB	BRIP1	NPHP1	ERCC6	DGKE	RFWD3	IL12A-AS1	SDR9C7	LIPN	CLCNKB	DYNC2H1	PHYH	RAD21	AMMECR1	CLDN19	SLC2A9	DCDC2	SCNN1B	STAT4	CFHR3	FAH	NOS1AP	CCN2	DYNC2LI1	TMEM216	CFHR1	HLA-B	KCTD1	MAPKBP1	PRPS1	CAV1	MT-TL1	CRB2	PNPLA6	SALL1	PGAM2	CLPB	NUP93	OFD1	PAX6	BRCA1	WDR19	NDUFAF6	NSD1	ZNF423	COQ8B	UMOD	ABCA12	LPIN1	CD2AP	TCF4	IRF5	PTPN22	APRT	INF2	TBX1	PPOX	GATA3	ALDH4A1	BAZ1B	HBB	ELN	PKHD1	FAM20A	OCRL	CCND1	ALDOB	FUZ	LHX1	HMBS	BICC1	IRAK1	PRKCD	TMEM237	NPHS2	SLC5A1	BSND	EIF4H	NTRK1	HLA-DRB1	NUP107	TBX18	LZTFL1	TBC1D8B	KLRC4	LAMB2	SLC34A1	AGXT	SLC7A7	AHI1	MUC1	CEP83	MYD88	HLA-DPA1	SLC22A12	PRDX1	RYR1	KCNE5	ELP1	SCNN1G	FAN1	ACSL4	P4HA2	IFT80	WDR73	C3	NLRP3	BNC2	CCNQ	ASPRV1	FAS	GSN	DACT1	EIF2AK3	ALG5	FANCC	TMEM260	DNASE1L3	BRD4	SH2B1	TP53RK	CYP4F22	TCN2	ITGA3	ACP5	MMACHC	MOCOS	GCDH	POLRMT	ANLN	IL10	PKD2	BBS10	PEX7	CLDN16	ZMPSTE24	SIX5	MT-CO3	METTL27	INPP5E	MYH9	HDAC8	NUP85	AQP2	GTF2IRD1	OCLN	ARHGDIA	TMEM231	PTPRO	SDCCAG8	NUP133	CHD4	IFNG	LRIG2	CD46	JAG1	SCARB2	CTLA4	NEK8	MYCN	ERAP1	NUP37	SOX18	IFT172	VANGL1	BCL7B	GPR35	HSD11B2	GON7	EMP2	NCF1	EYA1	COL7A1	GAPVD1	ANKFY1	IFNGR1	MME	SARS2	STS	RFC2	REN	SPP1	NOTCH2	FANCD2	FASLG	MT-TT	TBL2	CD81	GTF2I	MED12	FANCI	YRDC	CFHR5	CEP120	XRCC2	STX1A	NUP160	STAT2	NOD2	DNAJC30	MDM2	MT-TE	IQCB1	SGPL1	OSGEP	SRCAP	KARS1	MEN1	C4A	GANAB	FLT1	IL12A	ALDOA	IL23R	PLCE1	RRM2B	CD151	CCR6	SLC7A9	HELLPAR	SMC3	COG1	FANCF	COL4A6	HOXA13	BUD23	SEC61A1	NFS1	TSC1	ALOXE3	AP2S1	SLC26A1	NIPAL4	PKDCC	LCAT	LDHA	COL4A4	SCNN1A	CORIN	MST1	TMEM138	PIGA	MMP1	FANCM	CCR1	CACNA1S	SLX4	TTC26	NIPBL	CASP10	TSC2	GTF2IRD2	LIMK1	FANCL	FXYD2	SIX1	LEMD3	ZNFX1	WDR35	STOX1	TMEM270	SEMA4D	DSTYK	EHHADH	INVS	FANCE	UBAC2	FANCG	APOE	TMEM126B	BTNL2	RAD51	ALG9	ARHGAP24	CHRNA3	HPSE2	MT-CO1	DAAM2
HP_HORSESHOE_KIDNEY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HORSESHOE_KIDNEY	UBA2	ESCO2	KAT5	SEMA3E	TRIP13	FANCA	HNRNPU	AFF3	DSTYK	DDX59	CHD7	RPS26	CAPN15	MAP3K7	RPL26	FANCD2	SMARCB1	CCBE1	ADAMTS3	HMGA2	SALL4	EXTL3	FAT4	RPS24	COLEC10	GATA1	STAG1	SOX4	CWC27	RBM8A	MNX1	RPS27	TSR2	FANCE	ADA2	GRB10	SMARCA4	DDB1	ZIC3	RPS28	AFF4	TCTN3	FANCI	RBM10	RPS19	FANCC	RPL15	ARID1B	RPL11	WT1	HNF1B	POR	DSE	CFAP418	MYCN	RPS15A	SMOC1	RARB	RPS29	RPS20	ARID2	WNT4	DYNC2LI1	RPL27	PBX1	SON	RPL35A	KDM6A	SLX4	LEMD3	NRAS	RPS17	GREB1L	DPF2	CD96	CC2D2A	RPS10	SMARCE1	SOX11	UBE2A	SSR4	PORCN	ARID1A	CHUK	MRPS34	KRAS	RPL35	DKC1	BMPER	PUF60	HNRNPH1	THOC6	CHST14	SMARCC2	SNRPB	HRAS	COLEC11	BICRA	RPS7	RPL18	STRA6	FGFR2	CCNQ	SMARCD1	RPL31	SC5D	RPL5	SRY	PAX2
HP_ECTOPIC_KIDNEY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTOPIC_KIDNEY	DNAJC30	VANGL1	BCL7B	USP9X	FUZ	MLXIPL	WNT4	VPS37D	LRP4	PBX1	XRCC2	CDC42BPB	SPECC1L	NCF1	CHN1	FANCA	NIPBL	KDM6A	KMT2D	RIPK4	DACT1	EIF4H	RTTN	SLX4	GNB2	LEMD3	KNSTRN	FANCD2	GTF2IRD2	LIMK1	CCBE1	ADAMTS3	HMGA2	SALL4	XRCC4	RBBP8	GLI3	FKBP6	FAT4	DYRK1A	METTL27	RFC2	ELN	DDX6	TBL2	TMEM270	ARID1B	JAM3	DDX59	RPS26	FANCF	FANCE	GTF2I	PUF60	SMS	GTF2IRD1	WAC	ZEB2	SF3B2	DNA2	BUD23	CLIP2	NRIP1	SNRPB	APC	ZMYM2	SALL1	FANCC	CCNQ	FGFR1	HOXD13	CTU2	STRA6	SPINK5	PIK3CD	MAFB	WT1	STX1A	BAZ1B
HP_RENAL_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_HYPOPLASIA	DNAJC30	VPS37D	LRP4	NSD2	HAAO	MDM2	DCDC2	AFF3	NIPBL	KYNU	ZNF699	SKIC3	KCNJ5	PRMT7	HIRA	TMEM67	KCTD1	BMP4	RPS19	NAA10	DYNC2I1	H4C5	HMGA2	ARL6	FRAS1	XRCC4	GLI3	ERCC6	METTL27	ATPAF2	WDR35	SALL1	ELN	TBX1	ARID1B	SKIC2	FBXW11	PBX1	GP1BB	ARVCF	PUF60	CENPF	H4C3	GTF2IRD1	MYOD1	KIF14	PRIM1	FANCI	PAX2	RREB1	FGFR2	DCHS1	BUD23	IFT80	PDE6D	B3GLCT	ROBO2	ATRX	FANCL	RFWD3	JAG1	FREM2	COMT	BAZ1B	DLL4	FAT4	RARB	BCL7B	DYNC2H1	MLXIPL	COX14	SEC24C	MCM5	GRIP1	NCF1	KCNJ2	HSPA9	FGFR3	TBX3	WDR19	DHCR7	INTU	EIF4H	BCOR	PLXNA1	ERCC8	FGF10	LEMD3	GTF2IRD2	RMND1	LIMK1	SALL4	TBX18	FKBP6	PIK3CA	MBTPS2	TXNL4A	NCAPG2	RFC2	REN	NOTCH2	TBL2	GEMIN4	PPP1R15B	TMEM270	RAD21	MUC1	FANCF	ATN1	NFIA	GTF2I	CHD7	ZPR1	JMJD1C	DYNC2I2	RNU4ATAC	PIEZO2	SLC30A9	CLIP2	HNF1B	CEP55	PQBP1	TRRAP	CEP120	STRA6	HRAS	DACT1	NODAL	UFD1	STX1A
HP_NEPHRONOPHTHISIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEPHRONOPHTHISIS	CEP290	DYNC2H1	DYNC2I2	IFT172	NPHP3	TMEM67	NPHP4	WDR19	DYNC2I1	DCDC2	TRIP11	SDCCAG8	IQCB1	DYNC2LI1	CEP41	MAPKBP1	IFT140	CEP164	GLIS2	IFT43	ZNF423	NPHP1	AHI1	CEP83	TMEM216	INVS	RPGRIP1L	TRAF3IP1	TTC21B	ANKS6	FAN1	XPNPEP3	IFT80	TMEM138	CEP120	NEK8
HP_ABNORMAL_RENAL_TUBULE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_TUBULE_MORPHOLOGY	FOXP3	DNAJC30	NPHS1	NPHP4	VPS37D	IFT122	MT-ND2	ITGA3	SLC2A9	DCDC2	LAMB3	CPT2	MT-ND1	TMEM67	SLC41A1	REN	MRPS22	METTL27	MT-ND5	GLIS2	DPH1	NPHP1	SHPK	CLCNKB	NDUFS2	GLA	NDUFAF6	AGT	UMOD	CTNS	NDUFB8	GTF2IRD1	BSND	PUS3	SURF1	TRAF3IP1	HLA-DRB1	FOXC2	NUP133	NDUFAF3	BUD23	SLC22A12	NUP107	XPNPEP3	ANTXR1	MT-TV	BCS1L	MT-TK	PMM2	SLC7A7	VPS33A	MRPL3	BAZ1B	CLCN5	ELN	PKHD1	BCL7B	MLXIPL	ALMS1	NPHP3	NCF1	MYO1E	LAMC2	COQ2	GBE1	EIF4H	MT-TW	GTF2IRD2	LIMK1	PTPRO	FKBP6	MT-TL1	VPS33B	PDSS2	MT-ND6	RFC2	MT-ND3	TBL2	MT-ATP6	TMEM270	OCRL	MUC1	CEP83	MT-ND4	GTF2I	SLC37A4	LAMA3	RPGRIP1L	ACP5	ACE	SLC30A9	SCO2	FAN1	CLIP2	MMUT	BTNL2	AGTR1	STX1A	INVS	WDR19	TULP3	SLC12A3
HP_RENAL_TUBULAR_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_TUBULAR_ATROPHY	NUP133	NUP107	XPNPEP3	NPHP3	NPHS1	NPHP4	MUC1	CEP83	ITGA3	TMEM67	CLCN5	UMOD	RPGRIP1L	VPS33A	VPS33B	MYO1E	GLIS2	REN	NPHP1
HP_GLOMERULAR_SCLEROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLOMERULAR_SCLEROSIS	MT-ND4	SDHB	ITGB4	WDR4	TP53RK	MT-ND5	NPHS1	LMX1B	ANLN	ITGA3	TREX1	FAH	VHL	NOS1AP	SGPL1	OSGEP	TMEM127	COQ2	MDH2	DNMT3A	MT-CO1	NARS2	COL4A3	TBC1D8B	APOL1	RET	SLC37A4	NUP93	TRIM8	NUP85	PLCE1	CLCNKB	MT-TH	MT-TL1	FH	COQ8B	SDHC	NPHS2	SLC25A11	EPAS1	BSND	ARHGDIA	ACTN4	CD2AP	PAX2	PTPRO	NUP133	KIF1B	WT1	NUP107	SEC61A1	CRB2	MAX	NUP205	INF2	KIRREL1	JAG1	VPS33A	SCARB2	CLCN5	DAAM2	NUP37	MTX2	MYO1E	GON7	EMP2	LAMA5	GAPVD1	MAGI2	WDR19	MT-CO2	ANKFY1	NAA10	G6PC1	MT-TF	REN	RNU7-1	LAGE3	TRPC6	MT-ND6	NF1	MUC1	SDHD	WDR73	SMARCAL1	NUP160	COQ6	MT-TS2	ELP1	TPRKB	MT-CO3	SDHA	MT-TW	MT-TQ	ARHGAP24	PLEC	DLST	SDHAF2	MT-ND1	SLC12A3
HP_FOCAL_SEGMENTAL_GLOMERULOSCLEROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_SEGMENTAL_GLOMERULOSCLEROSIS	MT-ND4	WDR4	TP53RK	MT-ND5	LMX1B	ANLN	ITGA3	SGPL1	COQ2	MT-CO1	NARS2	COL4A3	TBC1D8B	APOL1	SLC37A4	NUP93	NUP85	PLCE1	CLCNKB	MT-TH	MT-TL1	COQ8B	NPHS2	ARHGDIA	ACTN4	CD2AP	PAX2	PTPRO	NUP133	WT1	NUP107	SEC61A1	CRB2	NUP205	INF2	KIRREL1	JAG1	VPS33A	SCARB2	DAAM2	NUP37	MTX2	MYO1E	GON7	EMP2	LAMA5	GAPVD1	MAGI2	MT-CO2	ANKFY1	NPHS1	G6PC1	MT-TF	REN	TRPC6	MT-ND6	WDR73	SMARCAL1	NUP160	COQ6	MT-TS2	TPRKB	MT-CO3	CLCN5	MT-TW	MT-TQ	ARHGAP24	MT-ND1	SLC12A3
HP_TALL_STATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TALL_STATURE	CBS	FAM20A	COL2A1	NSDHL	FOXE3	NF1	GPC4	C1R	FOS	NSD1	FBN1	AIP	AR	MEG3	ASXL3	RTL1	SETD2	TGFB2	TGFBR1	PLOD1	TRIM32	CAMK2A	CDKN1B	SMAD2	DNA2	ACTA2	NSD2	TGFB1	MAT2A	IPO8	GRIA3	NEB	ATP6V1E1	TGFBR2	FBLN5	NKAP	MED12	POLG	CPLX1	DICER1	LARS2	FBN2	CDKN2B	ZDHHC9	CYP19A1	DSE	COL6A2	KBTBD13	POLR3A	NPR3	SMAD3	H3-3B	KMT2C	LOX	NPR2	SLC6A8	FKBP14	LETM1	SUZ12	FBXO11	MEN1	PPARG	RERE	ACTA1	TXNRD2	TCF20	DLK1	KIF7	EED	HRAS	TUBB4A	HNRNPK	EFEMP2	APC2	HEY2	TGFB3	IGF2	LHCGR	CHD8	KRAS	WRN	MC2R	PIK3R2	PIGG	ATP6V1A	MYPN	NNT	CAVIN1	RNF135	PTEN	CDKN2C	NELFA	KCNQ1	GLI3	MAN2B1	KLHL41	COL6A3	SRY	FIBP	HSPG2	CIC	EZH2	PIK3CA	ZNF469	STRADA	MYLK	YWHAE	BSCL2	TPM2	CDKN1C	UPF3B	MRAP	FGF3	FARSB	POR	DNMT3A	SMS	MFAP5	GPC3	AGGF1	PAFAH1B1	HERC1	NFIX	STAR	SOST	SUFU	PYROXD1	SMAD4	PDGFRB	MTM1	AKT1	ABAT	CCND1	AGPAT2	ESR1	TIMM50	GPR101	KANSL1	TYMP	TPM3	PIGA	SARS1	NRAS	MC4R	PIGL	DLG4	FGFR3	HPGD	CDKN1A	MYH11	THSD4	PRKG1	RET	PTCH1	PDE11A	LRP4	NONO	COL1A2	PRKAR1A	DIS3L2	CHST14	EHMT1	KCNQ1OT1	CAV1	ELN	CTBP1	SHANK3	COL6A1	CNOT1
HP_GLOMERULONEPHRITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLOMERULONEPHRITIS	FOXP3	FCGR2B	SOX18	ALMS1	LMX1B	MYO1E	EMP2	C4A	ANLN	COL7A1	GAPVD1	SOCS1	MMP1	PRKCD	NUP85	C1QA	TREX1	FAS	MAGI2	PGM3	INF2	LMNB2	APOL1	CASP10	ANKFY1	NUP205	MME	NUP107	FCGR2A	CFI	NPHS1	DNASE1	ZNFX1	COL4A3	TBC1D8B	DNASE2	PTPN22	FASLG	LAGE3	CD2AP	NUP93	TRIM8	PAX2	PLCE1	RASGRP1	CTLA4	JAK1	CD81	SMARCAL1	COQ8B	DNASE1L3	NPHS2	ACTN4	COPA	ARHGDIA	NUP160	TRPC6	KANK2	PTPRO	ZAP70	WT1	NUP133	CFHR5	SLC37A4	KIRREL1	C1QB	DGKE	SLC7A7	ARHGAP24	CRB2	C1QC	WDR19	NUP37	DAAM2
HP_NEPHROTIC_SYNDROME	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEPHROTIC_SYNDROME	FOXP3	BBS2	NLRP3	COL4A5	BBIP1	WDR4	CASP10	DMRT3	TP53RK	NPHS1	ANLN	ITGA3	B2M	NUP133	STAT4	NOS1AP	LAGE3	SGPL1	C1QBP	OSGEP	TRIM32	NR5A1	LMNB2	ADA	COQ2	PRKCD	ZFPM2	CYBC1	VPS33A	BBS10	BBS12	IL7R	CEP19	NR0B1	RMRP	SLC35A2	ALG1	IFT74	IFIH1	VAMP7	FGA	DHX37	MKKS	TRIM8	NUP85	ZNF592	GLA	GATA4	NPHP1	LZTFL1	NUP93	MARS1	RAG2	AVIL	BBS5	PDSS2	SRY	LIG4	EMP2	PUS3	KANK2	WWOX	FN1	PAX2	PMM2	RAG1	CHD7	APOA1	ARL6	ARHGDIA	NUP107	LAMB2	CRB2	NUP205	NEXMIF	KIRREL1	IL2RG	SCARB2	GATA3	ZAP70	SNAP29	PLCE1	DAAM2	MAP3K1	CCND1	COL4A4	WDPCP	TPRKB	WDR73	WT1	IFT27	CFAP418	CHST14	IRAK1	LYZ	LAMA5	IFT172	MYO1E	NPHS2	DCLRE1C	C3	BBS1	COL4A3	LMX1B	BBS7	MEFV	MME	TTC8	COQ8B	PTPRO	BBS9	SDCCAG8	ZNFX1	MKS1	TBC1D8B	SPP1	TRPC6	SCAPER	JAK1	BBS4	MAGI2	RASA1	CEP290	COQ6	SAA1	SOX9	SERPINA1	DGKE	GSN	SMARCAL1	NUP160	SLC17A5
HP_POLYURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYURIA	PLVAP	NPHP3	FAM20A	NPHP4	SON	KCNJ10	AVPR2	SLC12A3	CASR	BSND	CLCNKB	CLDN10	SLC34A1	AQP2	PTPN22	ITPR3	KCNJ1	CLDN16	IL6	SLC41A1	CAV1	NPHP1	TMEM67	CLCNKA	SARS2	CYP24A1	KCNJ5	LZTFL1	SLC12A1	SLC5A2	ATP1A1	MAGED2	HNF1A	CTNS
HP_RENAL_AGENESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_AGENESIS	PROKR2	SH2B1	CCDC141	FGF17	TGIF1	LRP4	STIL	HS2ST1	SASS6	FANCA	CPLANE1	FGF8	KYNU	TNXB	PHC1	KIAA0753	SUFU	RPS26	ALDH18A1	FANCD2	IDH1	TRAPPC10	MCM7	XRCC4	SETD2	PYCR2	SEMA3A	ERCC6	DCC	RPS24	PRKAR1A	GATA1	WNT3	TCTN3	SIX1	WNT4	RPS27	NDUFS2	GREB1L	FANCE	GLI3	ADA2	DISP1	KIF14	NDUFB8	ZIC3	RPS28	H4C9	SDCCAG8	MBTPS2	NODAL	GDF6	FANCC	RPL15	FANCL	RPL11	FGF20	HNF1B	TRAPPC14	ANKLE2	GFRA1	CDC42	RPS29	FANCB	VANGL1	TOPORS	ASXL2	NADSYN1	RPL27	OFD1	RPL35A	DUSP6	KNL1	DHCR7	RPL26	ERCC8	KNSTRN	PTPN11	MKS1	PIK3CD	STS	DYRK1A	TXNL4A	RPS10	APC2	TMCO1	PPFIBP1	KIF7	ANOS1	CENPJ	COPB2	ATN1	SHH	NDNF	CHD7	TACR3	SPRY4	FLRT3	PTCH1	SCO2	ZMYM2	PHGDH	THOC6	WDR62	NCAPD3	TFAP2A	RPL18	DHCR24	DLL1	CIT	EYA1	RPL31	FREM1	RPL5	PDE6D	TAF13	PROK2	ELN	ATRX	ALKBH8	RET	SRCAP	RTTN	GNB2	KCTD1	FGFR1	PPP2R1A	LMBRD1	FBLN5	ZIC2	GLI2	HESX1	POR	NSD1	TSR2	HS6ST1	PUF60	SF3B4	CDK6	SURF1	FGFR2	SF3B2	SIX3	COG6	NDUFAF3	RPS19	WNT9B	TBX1	ITGA8	CTU2	MCPH1	CDK5RAP2	GATA3	PIEZO2	TP63	RPS15A	RPS20	FUZ	TMEM67	PBX1	SON	ASPM	TDGF1	FEZF1	FOXH1	TBC1D24	MFSD2A	IL17RD	ANKRD17	RPS17	SALL4	CEP152	PPP2R3C	TMEM216	FREM2	CEP135	CDON	WLS	METTL5	SOX10	RPL35	NSDHL	GAS1	INSL3	PIK3C2A	FAM149B1	CEP63	RPS7	HOXD13	CCNQ	WDR11	WBP11
HP_ENLARGED_KIDNEY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_KIDNEY	DNAJB11	FAH	FANCB	GPC4	PKD2	PIK3CA	NEK8	NAA10	SLC29A3	VPS33A	WT1	GNPTAB	DZIP1L	G6PC1	CDKN1C	GANAB	GPC3	ZIC3	SLC37A4	NPHP3	IGF2	MYRF	BICC1	CD81	VPS45	DYNC2H1	INSR	BMPER	CPT2	TCTN2	ANKS6	SAA1	IFT140	ALG9	CILK1	PKD1	PKHD1	KCNQ1OT1	PRKAG2	KCNQ1	FIBP	ALG5	INVS	TULP3
HP_RENAL_CYST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_CYST	PIGN	CEP290	BBIP1	MKKS	KAT6B	NPHP4	VPS37D	IFT43	RPGRIP1	GPC4	CASZ1	CPT2	B9D2	ETFA	TMEM67	DYNC2I1	B4GAT1	FRAS1	CEP19	CHRM3	IFT140	APPL1	TSC2	WDR35	FLCN	DZIP1L	TMEM231	ACTG2	SIX1	ARL3	DHCR7	HSPG2	PBX1	NPHP1	GP1BB	BBS5	DYNC2H1	LMOD1	ZEB2	RREB1	SPOP	XPNPEP3	SMC1A	TMEM138	CD96	RPGRIP1L	TCTN1	FREM2	PEX6	HNF1B	PKD1	BLK	MLXIPL	HSD17B4	TXNDC15	TRIP13	NEK8	TBX1	PRDM16	RMND1	MKS1	FKBP6	NPHP3	GREB1L	KIAA0586	SKIC3	CCND1	CSPP1	PDPN	ETFB	CDC73	COL4A1	MPI	ANKS6	PEX1	CLIP2	ABCC8	CC2D2A	TRRAP	CEP120	EYA1	ROR2	ZNF148	MT-CYB	BBS2	RAD21	GNA11	DHX16	BUB3	GCK	TFAP2A	GABRD	B9D1	MAPKBP1	TCTN3	MYLK	CDKN1C	CRB2	PKHD1	SALL1	CWC27	NEUROD1	CLPB	OFD1	INPP5E	PEX5	GPC3	WNT3	PIGT	MMP23B	FLNB	GATA3	COMT	BAZ1B	PAX1	VHL	ELN	PAX2	AKT1	GANAB	DNAJB11	LHX1	SEC24C	BICC1	NOTCH2	IFT27	FLI1	ETFDH	COQ2	PEX16	PEX10	EIF4H	NAA10	TTC8	MCTP2	LZTFL1	DYRK1A	NXN	PDSS2	OCRL	SCAPER	MUC1	BBS4	MYH11	ALG8	SNRPB	KCNQ1OT1	MPDU1	AMER1	SHANK3	DACT1	BUB1	ALG5	LIG1	TMEM260	BRD4	HNF4A	TSC1	TRIP11	PKD2	BBS10	TCTN2	BBS12	TMEM107	SPEN	METTL27	SKI	HDAC8	STK11	PEX3	INS	GTF2IRD1	BUB1B	PMM2	SDCCAG8	MBTPS2	IFT80	NRIP1	GLIS3	IFNG	PAX4	JAG1	PDX1	PIGQ	BCL7B	WDPCP	PEX19	CFAP418	NCF1	TKT	BBS1	CEL	RERE	LUZP1	TMEM237	TMEM216	RFC2	ZNF423	TBL2	PEX13	PORCN	IGF2	GTF2I	DYNC2I2	BMPER	KCNAB2	CEP55	PEX2	KCNQ1	PRKCSH	STX1A	TULP3	DNAJC30	FIBP	ESCO2	KCNJ11	SH2B1	CEP57	DCDC2	SIX5	NIPBL	TRIM32	LAMB3	SRCAP	PEX11B	HIRA	GLI3	MSH3	PRKCZ	SETBP1	PEX12	IFT74	RAD51C	KLF11	SKIC2	LRP5	ARVCF	PTEN	ALG9	SMC3	HDAC4	SF3B2	ARL6	BUD23	SEC61A1	NEK1	AP2S1	PIEZO2	ARL6IP6	GRIP1	PEX14	IFT172	LAMC2	PUF60	UBE4B	B3GLCT	TBC1D24	BBS7	GTF2IRD2	LIMK1	BBS9	TMEM270	JAM3	HNF1A	SEC63	LAMA3	JMJD1C	AKR1D1	TMEM218	RNU4ATAC	PEX26	HOXD13	UFD1	RSPO2	INVS
HP_RENAL_CORTICOMEDULLARY_CYSTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_CORTICOMEDULLARY_CYSTS	DCDC2	TMEM67	XPNPEP3	CRB2	NPHP3	NPHP4	MUC1	NPHP1
HP_RENAL_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_DYSPLASIA	CPLANE1	KCNA1	FIBP	ITGB4	TRIM8	BICC1	SCN1B	ARX	PBX1	PIGN	FKRP	CASK	SON	ZNF699	PAX2	SHANK3	PIGT	RMND1	FKTN	PIGQ	SIX5	GRM7	USP9X	GLI3	TBX18	DMXL2	GREB1L	AMMECR1	KIAA0586	MBTPS2	IFT140	POMT2	GRIN1	SALL1	NPHP3	SIX1	CSPP1	COQ7	PLVAP	POMT1	PIGP	NDUFS2	GRB10	NEUROD2	DYNC2H1	NDUFB8	TTC8	SLC25A22	ITGA6	SURF1	CPT2	CDKL5	SCO2	SDCCAG8	NDUFAF3	LARGE1	SCN2A	GNAO1	SMO	INTS1	TBX1	CEP55	ITGA8	BNC2	GATA3	JAG1	PIEZO2	SIK1	EYA1	TP63	MYCN	PLEC	ZNF148	PNKP
HP_NEPHROPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEPHROPATHY	NOD2	HNF4A	NLRP3	DYNC2H1	MT-ND4	KCNJ11	WIPF1	MT-ND5	GCK	WDR19	ADA2	B2M	NUP133	MMACHC	SCNN1B	TREX1	LAGE3	DYNC2LI1	COL4A1	TMEM216	WAS	SLC26A4	MT-CO1	PAFAH1B1	MAFB	INPP5E	APPL1	OSGEP	FGA	MYH9	NEUROD1	PAX6	HIC1	KLF11	GLA	MT-TH	PRODH	MT-TL1	ZNF423	UMOD	WT1	INS	CISD2	COL4A6	APOA1	TTC21B	SLC2A2	SEC61A1	PAX4	SCARB2	PDX1	FOXI1	NPHP1	CEP290	FAM20A	KCNJ10	DYNC2I2	IFT172	CCND1	SCNN1A	BLK	TPRKB	WFS1	DYNC2I1	WDR73	TP53RK	TMEM138	RPGRIP1L	LYZ	TTR	VIPAS39	TMEM237	MT-CO2	CEL	CPOX	IFT140	CC2D2A	VPS33B	SLC5A2	MT-TF	WDR4	MT-ND6	YWHAE	HNF1A	SMARCAL1	PRDX1	MEFV	SCNN1G	SAA1	MT-TS2	COL4A5	ABCC8	IFT80	MT-CO3	CEP120	MT-TW	TMEM67	TMEM231	CLDN19	MT-TQ	NUP107	HPRT1	MT-ND1
HP_POLYCYSTIC_KIDNEY_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYCYSTIC_KIDNEY_DYSPLASIA	GANAB	ESCO2	SEC24C	TXNDC15	IFT43	TRIP11	ETFDH	SRCAP	MKKS	CPT2	SKIC3	PEX5	ETFA	HIRA	NAA10	TMEM231	TBX1	TSC2	MKS1	OFD1	DZIP1L	ALG9	PKHD1	NPHP3	ZNF423	SIX1	SKIC2	PEX12	ETFB	GP1BB	ARVCF	TMEM107	DYNC2H1	JMJD1C	TMEM218	RNU4ATAC	RREB1	TCTN2	ANKS6	NEK1	GLIS3	CDC73	IFNG	TSC1	WDR35	GATA3	SHANK3	COMT	EYA1	UFD1	PKD1	PKD2
HP_PROXIMAL_TUBULOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_TUBULOPATHY	MT-ND4	OCRL	NDUFB10	NDUFS4	MT-ND5	NDUFAF2	NDUFS3	POLRMT	NDUFS7	NDUFS2	ETFDH	NDUFAF8	NDUFAF5	MT-CO2	NDUFV1	CLCN5	ETFA	CTNS	NDUFA11	NDUFA6	MT-CO1	MT-ND1	NDUFA1	MT-ND3	MT-TF	TIMMDC1	LRP2	SLC34A1	ALDOB	MT-ND6	FOXRED1	TMEM126B	NDUFS6	NDUFAF3	MT-TH	ETFB	MT-TL1	NDUFV2	HBB	NDUFS8	NDUFB9	MPI	NDUFB11	PMM2	COG6	MT-TS2	NDUFAF4	MT-CO3	RRM2B	NUBPL	NDUFAF1	MT-TW	MT-TQ	NDUFS1	MT-ND2	NDUFB3
HP_RENAL_PHOSPHATE_WASTING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_PHOSPHATE_WASTING	CLCN5	CTNS	INPPL1	ENPP1	GATM	SLC34A1	NDUFAF6	PHEX	DMP1	GNAS	SLC9A3R1	EHHADH	SLC34A3	FGF23
HP_NEPHROCALCINOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEPHROCALCINOSIS	SLC4A1	DNAJC30	ADAT3	TBC1D24	CLDN19	ABCC6	FAM20A	VPS37D	TRNT1	PTH1R	FAH	POLRMT	SRCAP	SLC34A1	ENPP1	STRADA	CLCN5	CLDN16	MEN1	GRHPR	AMMECR1	CDKN1C	METTL27	ELN	HPRT1	MAGED2	CLCNKA	CTNS	CLPB	SBDS	CASR	INSR	HNF4A	TOR1A	GTF2IRD1	HOGA1	HLA-DRB1	DNAJC21	STX3	PTH	SLC2A2	KCNJ1	DYNC2I2	BUD23	ATP6V0A4	PIGT	CYP24A1	AGXT	GATA3	BAZ1B	ZNF687	ALPL	OCRL	CDC73	BCL7B	MLXIPL	HSD11B2	FUT8	NCF1	VIPAS39	BSND	EIF4H	TTC26	GCM2	GTF2IRD2	LIMK1	PEX3	FKBP6	SLC12A1	VPS33B	GALNT3	RFC2	AIRE	CLCNKB	TBL2	GEMIN4	TMEM270	IGF2	ATP1A1	GTF2I	SLC37A4	FGF23	COL4A3	MEFV	PIK3C2A	ATP6V1B2	CLIP2	SLC34A3	MYO5B	KCNQ1OT1	SLC1A2	BTNL2	KCNQ1	STX1A	GNA11	SRP54	ROR2
HP_UNILATERAL_RENAL_AGENESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNILATERAL_RENAL_AGENESIS	CDC42	PROKR2	TAF13	WNT4	ASXL2	TMEM67	ELN	NADSYN1	PBX1	STIL	SON	HS2ST1	ASPM	SASS6	FREM1	ALKBH8	KYNU	KNL1	DHCR7	TNXB	PHC1	RTTN	GNB2	ERCC8	ALDH18A1	MFSD2A	IDH1	TRAPPC10	KNSTRN	PTPN11	MCM7	ANKRD17	XRCC4	PIK3CD	STS	PYCR2	CEP152	ERCC6	PPP2R3C	DYRK1A	PRKAR1A	TXNL4A	CEP135	PPP2R1A	LMBRD1	FBLN5	TMCO1	SIX1	PPFIBP1	POR	METTL5	ANOS1	GLI3	CENPJ	COPB2	ATN1	PUF60	SF3B4	KIF14	CDK6	NSDHL	H4C9	COG6	MBTPS2	THOC6	CEP63	HNF1B	GDF6	FANCL	WDR62	TBX1	NCAPD3	CTU2	MCPH1	CDK5RAP2	GATA3	CIT	TRAPPC14	EYA1	WBP11	ANKLE2
HP_NEPHRITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEPHRITIS	FOXP3	FCGR2B	COL4A5	CASP10	ALMS1	HMOX1	ELN	LMX1B	STAT4	C4A	ANLN	C1QA	MYH11	PKD2	FAS	LMNB2	ALDH18A1	KCTD1	PRKCD	LTBP1	FCGR2A	CFI	FBLN5	PLG	DNASE1	COL4A3	TBC1D8B	GANAB	MYH9	NUP93	TRIM8	PLCE1	RASGRP1	CD151	COQ8B	DNASE1L3	UMOD	NPHS2	EMP2	ARHGDIA	KANK2	PTPRO	HOXA13	WT1	NUP107	KIRREL1	SLC7A7	VPS33A	ALG5	CRB2	MYCN	C1QC	NUP37	SOX18	COL4A4	DNAJB11	MYO1E	IRAK1	COL7A1	GAPVD1	SOCS1	MMP1	NUP85	TREX1	MAGI2	EFEMP2	PGM3	INF2	SHANK3	APOL1	ANKFY1	NUP205	MME	NPHS1	ZNFX1	DNASE2	SPP1	PTPN22	FASLG	LAGE3	CD2AP	PAX2	CTLA4	BICC1	JAK1	CD81	SMARCAL1	MED12	ACTN4	COPA	NUP160	TRPC6	IFT140	ZAP70	NUP133	CFHR5	PKD1	SLC37A4	XDH	BNC2	C1QB	DGKE	ALG9	ARHGAP24	WDR19	DAAM2
HP_RENAL_TUBULAR_DYSFUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_TUBULAR_DYSFUNCTION	SLC4A1	CEP290	MT-ND4	NDUFB10	NDUFS4	MT-ND5	FAM20A	NDUFAF2	KCNJ11	FBXL4	PC	FAH	POLRMT	NDUFS2	STAT3	ATP6V1B1	CLCNKB	NDUFAF8	NDUFAF5	KCNJ5	NDUFV1	CLCN5	ETFA	CLDN16	PHKA2	GATM	SLC2A2	MT-CO1	ABCC8	MT-ND1	PDX1	OCRL	MT-ND3	TIMMDC1	TRMT5	CLCNKA	CTNS	FOXRED1	EPG5	TMEM126B	HNF1B	MT-TH	RRM2B	GNAS	MT-TL1	NDUFB8	BSND	SURF1	ATP7B	PMM2	COG6	PEX19	NDUFAF3	UQCC2	ATP6V0A4	SLC34A1	NUBPL	NDUFAF1	CAD	CPT1A	JAG1	GCK	NDUFS1	GATA3	MT-ND2	PHEX	NDUFAF6	NDUFS3	SLC4A4	PIGA	NDUFS7	KCNJ2	KYNU	VIPAS39	ETFDH	COQ2	MT-CO2	MT-TN	RMND1	NDUFA11	NDUFA6	HNF4A	NDUFA1	VPS33B	SLC5A2	MT-TF	GALNT3	PDSS2	NOTCH2	NADK2	LRP2	ALDOB	MT-ND6	INS	PHKG2	NDUFS6	CA2	ETFB	COA8	EHHADH	NDUFV2	HBB	PHKB	NDUFS8	SLC34A3	TAOK1	NDUFB9	MPI	NDUFB11	SCO2	MT-TS2	MMUT	NDUFAF4	NPHP1	MT-CO3	MT-TW	MT-TQ	NDUFB3	BCS1L	SLC12A3
HP_PELVIC_KIDNEY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PELVIC_KIDNEY	TMEM270	DNAJC30	BCL7B	MLXIPL	VPS37D	FANCF	GTF2I	PUF60	NCF1	GTF2IRD1	WAC	ZEB2	EIF4H	RTTN	SLX4	GNB2	BUD23	CLIP2	FANCD2	ZMYM2	GTF2IRD2	LIMK1	CCNQ	FGFR1	FKBP6	STRA6	DYRK1A	METTL27	RFC2	STX1A	BAZ1B	ELN	DDX6	TBL2
HP_RENAL_SALT_WASTING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_SALT_WASTING	CYP11A1	MUC1	STAR	KCNJ10	CYP11B2	MC2R	NNT	BSND	CLCNKB	SCNN1A	KCNJ16	KCNJ1	CYP11B1	TXNRD2	CLCNKA	SARS2	SLC12A1	HSD3B2	NR0B1	MRAP	CYP21A2
HP_RENAL_POTASSIUM_WASTING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_POTASSIUM_WASTING	SLC12A1	KCNJ1	SLC12A3	CLCNKB	ATP1A1	KCNJ10
HP_ABNORMALITY_OF_THE_UTERUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_UTERUS	BRD4	PIGN	LRP2	CYP11A1	FANCB	WNT7A	RARB	SDHD	UBE2T	COL3A1	APC	CHD7	DHH	TNXB	KISS1R	HYLS1	AR	STAT6	PSMC3IP	NUP107	DYNC2I1	MRPS22	FRAS1	CHRM3	TGFBR1	CTBP1	WDR35	TBX1	PLG	SEC23B	SPECC1L	HDAC8	WNT4	ARID1B	MNX1	POLD1	MYRF	MSH2	MSH6	GLI3	GP1BB	FGFRL1	CYP17A1	ADH5	TBX3	IPO8	STK11	WT1	SPIDR	TP53	TGFBR2	RREB1	IFT80	KISS1	SMC1A	FANCL	PIK3CA	DCAF17	LARS2	EPCAM	FREM2	MLH3	PALB2	HNF1B	NIN	NTHL1	HS6ST1	DYNC2H1	SMAD3	BRCA2	CYP11B1	NDUFB11	AKT1	TP63	TXNDC15	HOXA13	NDP	C14orf39	FGFR3	DHCR7	CLPP	DUSP6	SRC	FGF10	PTPRJ	MKS1	GREB1L	DLC1	RAD51C	CDKN1B	WDR11	FANCD2	FOXL2	PDGFRL	BMP15	POLR3H	TACR3	NR5A1	MAD2L2	MLH1	TAC3	CDC73	FANCA	DYNC2I2	FANCI	GNRH1	MSH5	TOE1	COL4A5	COL1A1	GNRHR	MINPP1	BRIP1	SOX9	PHGDH	THOC6	ESR1	PTEN	STRA6	PMS2	RFWD3	XRCC2	MID1	CYB5A	BMPR1B	EP300	AXIN2	SRY	HCCS	ELN	RAD21	ESCO2	BRAF	LETM1	ERAL1	CPLX1	FH	SETBP1	POLE	FOXF1	SDHB	COL5A2	RIPK4	USF3	BNC1	GNB2	HIRA	RAD54B	NRAS	MSH3	INTU	NSD2	SOX11	PPP2R1A	SALL1	SPRY4	RBM8A	PAX6	BRCA1	FLI1	ARVCF	PTPN12	MCC	BMPR1A	SMC3	NSMF	AXIN1	FANCF	FGFR2	COL4A6	FSHR	B3GLCT	RPS20	SLC6A17	SF3B4	ITGA8	GATA3	DHX37	COMT	POR	ZSWIM7	PPP1R12A	SEC24C	FIGLA	CDH1	GRIP1	AURKA	BUB1	DCC	FANCM	PROK2	SLX4	NAB2	DACT1	COX7B	FLCN	NIPBL	TLR2	KIF14	CCND1	ERCC4	BUB1B	SEMA4A	PPP2R3C	FGF8	ALG9	FGFR1	SOHLH1	CTNNB1	FGF17	JMJD1C	CXCR4	CHEK2	FANCE	IRF6	FANCG	KLLN	COL5A1	PROKR2	CCNQ	PLA2G2A	RPS6KA3	GREM1	RAD51	UFD1	FANCC	SDHC	BAX
HP_MENORRHAGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MENORRHAGIA	ITGB3	F13A1	F2	ITGA2B	SERPINE1	GP1BB	VWF	GP9	F5	F11	GP1BA	SLFN14	F13B	F8	NBEAL2	FLI1	PRKACG	F7	MCFD2	PRLR	MYH9	LMAN1	BLOC1S3	SLC37A4	BLOC1S5	HPS4	F10	GP6	DIAPH1	HPS5	PLAU
HP_GONADAL_DYSGENESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GONADAL_DYSGENESIS	ZSWIM7	ERCC3	DMRT3	ERCC2	RXYLT1	PPP1R12A	RNF113A	DHH	NR5A1	WT1	MPLKIP	SRY	BNC1	PSMC3IP	NUP107	ZFPM2	MRPS22	NR0B1	MAP3K1	PPP2R3C	VAMP7	GTF2E2	DHX37	TARS1	BMP15	POLR3H	GATA4	SPIDR	WWOX	FSHR	TOE1	CARS1	MINPP1	SOX9	GTF2H5	TWNK	HSD17B4
HP_FEMALE_HYPOGONADISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEMALE_HYPOGONADISM	GNRH1	HS6ST1	CDH23	TACR3	FGF17	MEN1	TAC3	ATM	NSMF	PROK2	CHD7	DUSP6	AIP	ZMPSTE24	GNRHR	KISS1	BMP4	PROKR2	FGF8	WDR11	LMNA	AIRE	FSHB	FGFR1	KISS1R	SPRY4	PRLR
HP_HYPOGONADISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOGONADISM	PROKR2	MT-ND4	BBIP1	FSCN2	SMARCE1	CHRNG	PNPLA6	FGF17	SEMA3E	FANCB	VPS37D	POU1F1	RGR	CUL4B	IDH3A	AXL	PRPF4	UBE2T	ZBTB20	POLR3A	DUSP6	KISS1R	CASZ1	BMP4	ZFPM2	CEP19	PRPF31	PTPN11	HFE	PRKAR1A	SLC7A14	BRCC3	PCARE	CTNS	MAGEL2	HSPG2	STEAP3	EYS	NPHP1	MT-TL1	CYP17A1	BBS5	SRY	LMNA	DCC	CNBP	SMO	TTC8	MECP2	TRAF3IP1	CCDC141	WWOX	ERCC4	AIP	DHH	SLC39A4	RRAS	BBS2	CAMKMT	REEP6	RNF216	FANCC	RIT1	TAC3	DCAF17	GLI2	PRDM13	TWNK	CYP19A1	PALB2	ARSL	HS6ST1	SLC3A1	MLXIPL	FEZF1	ALMS1	BRCA2	VPS4A	CDH23	ERCC5	ARL3	SMCHD1	IMPG1	RP2	CLPP	CLRN1	AMACR	BAP1	LEPR	PTCH1	BBS7	CTNNB1	RIN2	PRDM16	WT1	GNAS	IGF1	FKBP6	AGBL5	CRB1	MGME1	RAD51C	WDR11	XPC	PRPH2	MT-ND6	NF2	LHX3	DHX37	RPE65	PDPN	MAD2L2	IFT27	NR5A1	WRN	NDNF	CHD7	FANCA	HBB	INPP5K	ANOS1	SPRY4	EIF2S3	RECQL4	MT-TS2	CLIP2	GNRHR	SOX9	BRIP1	HDAC8	GALT	MRE11	CTDP1	LEP	ERCC6	DHDDS	RFWD3	PEX6	NDN	MT-TQ	NR2E3	TFR2	PROK2	DMRT3	MT-ND5	BMP6	SPATA7	SNORD115-1	PPM1B	TULP1	SNRNP200	GABRD	PWRN1	NRAS	LAS1L	COQ2	IL17RD	SMARCB1	ARHGEF18	TYMP	NR0B1	ERCC8	DDB2	PWAR1	SEMA4A	PDE6A	ERCC2	SAMD9	BRCA1	ABCD1	RRM2B	GATA4	PROP1	GNRH1	NRL	LIG3	REV3L	BMP15	NSMF	CISD2	USH2A	ROM1	ATRX	CA4	MMP23B	PLXND1	ZNF513	RP1L1	RLBP1	BAZ1B	HJV	FSHB	OCA2	ELN	BMP2	CCDC28B	MAP3K1	RBM28	BEST1	POLA1	SNRPN	LSS	LZTR1	OTX2	BBS12	PHF6	ATM	IMPDH1	KLHL7	TRAF7	PRPF8	EIF4H	SIL1	DNM1L	ERCC1	HAMP	LZTFL1	MT-TF	FGF8	AIRE	SLC29A3	AHI1	KIZ	POLR3K	SCAPER	BRAF	MERTK	ALX4	BBS4	SOX10	CRX	CEP290	SEMA3A	TOPORS	MYH3	PDE6B	STUB1	PTDSS1	GPR101	IFT140	FOXA2	SOS1	MAK	SIM1	ANTXR1	POLE	POMGNT1	FMR1	PHGDH	CERKL	RP1	FAM161A	GUCA1B	BBS10	MKRN3	SOX3	FANCD2	PRPF6	POLG	CBL	SPEN	TUB	RRAS2	METTL27	DMXL2	RDH12	SKI	PREPL	IMPG2	TGFB1	MT-TH	FANCE	POLD1	GTF2IRD1	PMM2	NTN1	SDCCAG8	MRAS	KISS1	CHD4	PRPF3	RBP3	PDE6G	TP53	LHCGR	PDGFB	ERCC3	TRIM32	CPE	IFT74	KIAA1549	BCL7B	WDPCP	IFT172	ABCA4	CFAP418	NCF1	DMRT1	NEK2	BBS1	POLR3B	PTCH2	SCP2	WFS1	RP9	LHX4	LUZP1	AKT1	STS	OFD1	MKS1	RFC2	RAD51	PRLR	TBL2	SMAD4	KRAS	TACR3	NECTIN1	PROM1	GALK1	GTF2I	FANCI	AHSG	CDHR1	RNU4ATAC	KCNAB2	FLRT3	HERC2	HSD17B3	RAB3GAP2	MRPS7	AR	ARL6	XRCC2	PRORP	CYB5A	BMPR1B	STX1A	CBX2	LRAT	DNAJC30	CDKN1C	NPAP1	GJB2	IFT88	FGFR1	MDM2	RERE	CNGA1	SGPL1	IER3IP1	CNGB1	DMPK	PIK3CA	TERT	RAB3GAP1	SNORD116-1	MT-CO1	PRKCZ	BCS1L	VAMP7	XPA	MKKS	SOS2	PRCD	ITGB6	HESX1	ANAPC1	SOX2	SRA1	SPRED2	FANCF	SUFU	ZMPSTE24	BUD23	PDE4D	ARL2BP	USP7	RASA2	ZNF408	RAF1	TP63	SNAP29	MAP2K1	SAG	FOXL2	MEN1	SIX6	FANCM	POLR1C	SLX4	MT-CO2	UBE4B	SQSTM1	HGSNAT	TCF12	ALG1	GTF2IRD2	LIMK1	FANCL	BBS9	RHO	OPA1	ANK1	IDH3B	DHX38	TMEM270	LHB	PEX1	PCSK1	FANCG	DNAL4	MT-CO3	RPGR	MT-TW	AHR	MT-ND1
HP_ABNORMALITY_OF_THE_OVARY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_OVARY	PMS1	ZFTA	BBIP1	MBD4	VPS37D	TP53	SDHD	BRCA1	LMNA	FGFR2	CHD7	DHH	FOS	NR5A1	PSMC3IP	PHKA2	SOX3	NUP107	ZFPM2	BBS10	BBS12	MRPS22	CEP19	METTL27	PTEN	PLG	SEC23B	WNT4	SETD2	CDH1	MSH2	BRCA2	NPHP1	LZTFL1	GNAS	CYP17A1	BBS5	STK11	SRY	FAN1	WT1	SPIDR	GTF2IRD1	WWOX	AKT1	KISS1	KRAS	PMM2	FOXE1	DCAF17	LARS2	CYP19A1	OPCML	HS6ST1	BCL7B	HNF1A	MLXIPL	WDPCP	CFAP418	TP63	NCF1	MLH1	DMRT1	C14orf39	NR0B1	BBS1	RAD51	DUSP6	CDKN2A	LEPR	PPARG	CYP11B1	PTPN11	FKBP6	SDCCAG8	CTNNB1	WDR11	NOBOX	MKS1	RFC2	PIK3CA	PRLR	TBL2	PTCH1	RABL3	ERBB2	BMP15	POLR3H	TACR3	DHX37	PLIN1	TAC3	MCM8	WRN	GTF2I	RAD51D	SLC37A4	GNRH1	MMP14	SUFU	CLIP2	GNRHR	SOX9	MSH6	CAVIN1	IDH1	ESR1	PMS2	HARS2	MID1	CYB5A	STX1A	CBX2	MT-CYB	NBN	ATM	SPRED1	BBS2	FSHR	DNAJC30	PTCH2	DMRT3	ALMS1	ERAL1	PALB2	SDHB	TRIM32	ANTXR2	USF3	LMNB2	BNC1	BSCL2	INSR	MAP3K1	OFD1	MSH3	SETBP1	RAD51C	IFT74	FLT1	F7	VAMP7	SPRY4	MKKS	PAX6	ARL6	POR	MYC	FLI1	GATA4	CIDEC	PALLD	DICER1	NSMF	MDM2	MRE11	BUD23	BRIP1	NTHL1	EPCAM	TBX1	MMP2	NDNF	STAG3	BAZ1B	ELN	CCDC28B	ZSWIM7	AKT2	CORIN	PPP1R12A	FOXL2	TGFBR2	FIGLA	AGPAT2	IFT27	SMAD4	IFT172	WNT10A	LIPE	CHEK2	PROK2	EIF4H	PDE11A	BBS7	GTF2IRD2	LIMK1	TTC8	RAD50	BBS9	AR	FGF8	RELA	MLH3	FGFR1	STOX1	KISS1R	TMEM270	RNF43	PHKG2	SCAPER	FGF17	LHB	BBS4	ZPR1	CEP290	PRKN	PHKB	MSX1	BARD1	PRKAR1A	LEP	ALG9	KEAP1	KLLN	PROKR2	CAV1	EWSR1	IDH2	SDHC
HP_OVARIAN_CYST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVARIAN_CYST	FSHR	PIK3CA	DNAJC30	ALMS1	VPS37D	SDHD	SDHB	LMNA	ANTXR2	FOS	USF3	LMNB2	PHKA2	SOX3	BSCL2	INSR	OFD1	MSH3	NR0B1	METTL27	SRY	FLT1	F7	WT1	SEC23B	SETD2	POR	DHH	GNAS	CYP17A1	PTEN	STK11	CIDEC	GTF2IRD1	CYP19A1	BUD23	NTHL1	TBX1	MMP2	BAZ1B	ELN	MAP3K1	AKT1	AKT2	BCL7B	CORIN	HNF1A	MLXIPL	FOXL2	AGPAT2	NCF1	ESR1	DMRT1	LIPE	EIF4H	PDE11A	PPARG	CYP11B1	GTF2IRD2	LIMK1	NR5A1	FKBP6	RFC2	STOX1	PRLR	TBL2	TMEM270	PHKG2	DHX37	LHB	PLIN1	GTF2I	SLC37A4	MMP14	PHKB	MSX1	PRKAR1A	CLIP2	SOX9	KLLN	CAVIN1	CAV1	CYB5A	SDHC	STX1A	CBX2	MT-CYB	ATM
HP_UTERINE_PROLAPSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UTERINE_PROLAPSE	ELN	RPS6KA3	COL1A1	COL5A2	COL3A1	SMAD3	COL5A1
HP_ABNORMALITY_OF_THE_MENSTRUAL_CYCLE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MENSTRUAL_CYCLE	PROKR2	CIDEC	F13A1	IRF2BP2	ITGA2B	WIPF1	SMARCE1	FGF17	YARS1	AXL	FIP1L1	KISS1R	AIP	AR	SLFN14	NUP107	ZFPM2	CYP17A1	F8	HFE	PRKAR1A	FMR1	CDKN1B	MAGEL2	GP1BA	H6PD	STAT5B	SETD2	GNAS	PSMC3IP	SRY	EIF2B3	SMO	SPIDR	EIF2B5	CCDC141	GPR161	WWOX	GP1BB	DHH	RNF216	SMC1A	MYH9	GP9	TAC3	HS6ST1	LARS2	TWNK	CYP19A1	NIN	RCBTB1	FEZF1	ALMS1	CDH23	SMCHD1	WT1	TP63	VWF	DUSP6	C14orf39	USP8	PSMD12	MEN1	CLPP	BAP1	LEPR	MCM9	WDR11	NOBOX	FLI1	SERPINE1	WAS	FOXL2	EIF2B4	NF2	BBS9	BLOC1S3	WRN	NDNF	SLC37A4	ANOS1	SPRY4	MSH5	GNRHR	USP48	BCOR	CTDP1	DIAPH1	CAVIN1	LEP	ESR1	PEX6	NDN	LMNA	TFR2	PML	RAD21	PROK2	DMRT3	ERAL1	BMP6	SNORD115-1	F5	PWRN1	GHR	LHX4	SMARCB1	PDE8B	NR0B1	ERCC8	PWAR1	HESX1	NBEAL2	F7	EIF2B2	GATA4	PROP1	GNRH1	FGG	STAT3	BMP15	NSMF	POLG	FSHR	F10	DHX37	POR	HJV	BPTF	FSHB	OCA2	BMP2	AKT2	F2	SNRPN	FIGLA	OTX2	ATRX	HFM1	CDON	TRAF7	ZSWIM7	IL17RD	POF1B	BSCL2	FGF8	ATP7B	CDKN1A	SOHLH1	PRLR	PHKG2	IGF2	ARMC5	SEMA3A	ITGB3	NUMA1	STUB1	GPR101	FOXA2	GALT	CAV1	SIM1	ANTXR1	PLAU	HSD17B4	FGA	BRD4	LIG4	NR3C1	MKRN3	CHD7	FOS	NR5A1	HMGA2	F11	PHKA2	F13B	MRPS22	SOX3	DCC	MSTO1	FANCM	HSF2BP	TP53	HDAC8	WNT4	BLOC1S5	HPS4	PAPSS2	DNM1L	KISS1	PDGFB	CDKN2B	CPE	PLIN1	ESR2	GDF9	TKT	PSMB8	PPARG	CYP11B1	GLI2	AKT1	PTPN11	SYCE1	EIF2B1	PRKACG	POLG2	LMAN1	TBL1X	SLC25A13	POLR3H	TACR3	MCM8	RARA	FLRT3	HERC2	DIAPH2	SOX9	ROBO1	CDKN2C	HARS2	PRORP	CYB5A	BMPR1B	SEMA3E	NPAP1	FGFR1	HAMP	FGB	CISD2	NABP1	ZBTB16	PIK3CA	BNC1	TERT	WNT7A	SLC29A3	PLAG1	SNORD116-1	VAMP7	PDE11A	SRA1	BRAF	MSH4	NPM1	SMC3	AGGF1	MCFD2	ZMPSTE24	GP6	PEX10	SOST	ITGA8	HPS5	STAG3	GATA3	MAP3K1	CDKN1C	PRKACA	LIPE	SUFU	PDE4D	ERCC6	NIPBL	TRMT10A	LHB	SOX10	PEX1	PCSK1	PHKB	POU1F1	TBL1XR1	AGPAT2
HP_AMENORRHEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMENORRHEA	BRD4	LIG4	PROKR2	SMARCE1	CCDC141	FGF17	YARS1	SNRPN	AXL	LMNA	FGF8	MKRN3	CHD7	DHH	FOS	NR5A1	KISS1R	AIP	AR	PSMC3IP	WDR11	NUP107	ZFPM2	MRPS22	SOX3	GNRHR	CYP17A1	SEMA3A	HFE	DCC	MSTO1	CDKN1B	MAGEL2	HSF2BP	TP53	HDAC8	WNT4	SRY	EIF2B3	SMO	SPIDR	EIF2B5	PAPSS2	GPR161	WWOX	KISS1	SMC1A	TAC3	HS6ST1	PDGFB	LARS2	CDKN2B	TWNK	CYP19A1	NIN	RCBTB1	CPE	FEZF1	ESR2	CDH23	SMCHD1	WT1	GDF9	TP63	DUSP6	TKT	C14orf39	USP8	PSMD12	MEN1	CLPP	BAP1	LEPR	PPARG	LHX4	GLI2	AKT1	SYCE1	EIF2B1	MCM9	NOBOX	PRLR	POLG2	FOXL2	EIF2B4	TBL1X	NF2	BMP15	POLR3H	TACR3	MCM8	WRN	NDNF	GNRH1	ANOS1	SPRY4	MSH5	FLRT3	HERC2	DIAPH2	USP48	SOX9	CTDP1	CAVIN1	ROBO1	LEP	ESR1	CDKN2C	PEX6	NDN	HARS2	PRORP	CYB5A	BMPR1B	OCA2	SEMA3E	TFR2	NPAP1	RAD21	PROK2	DMRT3	POLG	ERAL1	BMP6	FGFR1	SNORD115-1	HAMP	FSHB	CISD2	PWRN1	PIK3CA	BNC1	TERT	WNT7A	SMARCB1	SLC29A3	NR0B1	SNORD116-1	PWAR1	PROP1	HESX1	VAMP7	DHX37	EIF2B2	POR	GATA4	SRA1	BRAF	MSH4	SMC3	NSMF	NR3C1	FSHR	ITGA8	STAG3	GATA3	HJV	BPTF	MAP3K1	BMP2	ZSWIM7	FIGLA	OTX2	ATRX	HFM1	CDON	TRAF7	SUFU	CAV1	ERCC6	NIPBL	IL17RD	POF1B	BSCL2	CDKN1A	SOHLH1	TRMT10A	LHB	SOX10	PEX1	PRKAR1A	PCSK1	POU1F1	FOXA2	GALT	SIM1	ANTXR1	AGPAT2	HSD17B4
HP_ABNORMAL_VAGINA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VAGINA_MORPHOLOGY	CYP11A1	DMRT3	MKKS	BUB3	FREM1	CEP57	KIF7	COL3A1	DHH	NR5A1	HYLS1	AR	FH	STAT6	POLR1C	CAPN15	PAX3	ZFPM2	DYNC2I1	POLR1D	FRAS1	NR0B1	RNU12	CHRM3	TCOF1	SALL4	INTU	PPP2R1A	WDR35	SALL1	VAMP7	DHX37	WNT3	COL7A1	PAX6	WNT4	MNX1	ARL6	TCTN3	GATA4	CLEC7A	GLI3	CYP17A1	TBX3	SRY	DDB1	WT1	KIF14	ZEB2	BUB1B	WWOX	COL4A6	HOXA13	POLR1B	IFT80	TP63	PI4KA	B3GLCT	ITGA8	GATA3	FREM2	POR	MAP3K1	CCDC28B	RIPK4	SLC35A2	DYNC2H1	PPP1R12A	DYNC2LI1	CYP11B1	GRIP1	TRIP13	SPINT2	UBR1	SMAD3	DHCR7	RELA	NAB2	BCOR	DACT1	TRAF3IP2	IL17RA	ARHGAP31	LONP1	RECQL4	IL10RB	NR2F2	FGFR2	MAMLD1	DYNC2I2	MTM1	IRF6	IL17F	SRD5A2	COL4A5	ZMYM2	BBS1	SOX9	CCNQ	IL17RC	CYB5A	BUB1	RSPO2	JAK3
HP_RECTOVAGINAL_FISTULA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECTOVAGINAL_FISTULA	IL10RB	MNX1	TCTN3	FREM1	SPINT2	KIF7	SALL4	DDB1	MKKS	DACT1	POLR1B	POLR1C	PI4KA	SALL1	UBR1	POLR1D	CCNQ	RNU12	TCOF1	LONP1	RECQL4	JAK3
HP_DECREASED_FERTILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_FERTILITY	CYP11A1	FGF17	FANCB	SHOC1	CFAP47	AXL	CFAP58	UBE2T	DAZ1	AR	BTG4	SYCP3	RSPH3	NUP107	ZFPM2	PTPN11	IFT74	MSH4	CHRM3	SETD2	STK36	HFE	DNAH17	CFAP300	CTNS	MAGEL2	H6PD	SYCE1	FBXO43	GNAS	CYP17A1	PSMC3IP	CCDC65	SRY	SPIDR	REC114	CCDC141	WWOX	CCDC8	AIP	OBSL1	RNF216	PADI6	ADGRG2	TSGA10	CYP19A1	PALB2	FCGR2A	DNAH1	DNAH5	DHX37	HLA-DQB1	SLC26A8	PNLDC1	SPAG1	BRCA2	CDH23	DUSP6	TBX3	GGN	DNAI1	CFAP221	WT1	MSH5	ZMYND10	RAD51C	MEI1	DPY19L2	APC2	FOXL2	MCIDAS	TERB2	MAD2L2	XRCC2	RAF1	WRN	GAS2L2	NDNF	FSIP2	FANCA	ANOS1	SPRY4	DNAAF5	HSD17B3	SRD5A2	CEP19	BRIP1	DDX3Y	RFWD3	NDN	CDY2A	CFAP298	AK7	STRC	GBA2	CFAP52	DMRT3	BMP6	PPP2R3C	DZIP1	SNORD115-1	SPATA16	ACTL9	DAZ2	GCM2	PWRN1	GAS8	TUBB8	OFD1	NR0B1	PWAR1	CCDC62	MEIOB	PATL2	DNAAF6	BRCA1	RPS4Y2	CFTR	GATA4	NSD1	PROP1	GNRH1	MPLKIP	DNAH2	C14orf39	SOHLH1	SPAG17	VCY	FSHR	DNAAF1	ODAD3	KLHL10	BLM	HJV	DNAI2	PRY2	OCA2	HLA-DQA1	CATIP	SNRPN	ZP1	TTC12	FIGLA	OTX2	GGPS1	RPGR	CATSPER2	FEZF1	TSPY1	IL17RD	POF1B	ERCC4	DAZ3	NR5A1	DNAH9	RPL10L	TTC21A	BRAF	CCDC103	PRLR	CCNO	C2CD6	ZP3	CCDC34	CFAP65	PRKAR1A	WEE2	STUB1	PROKR2	FOXA2	GALT	SIM1	LMNA	USP9Y	CCDC39	WDR11	FANCC	PMFBP1	CFAP43	M1AP	NR3C1	DNAJB13	CLDN2	PNPLA6	FGF8	MKRN3	DHH	CDC14A	ZP2	TGFB1	DNAAF4	SUN5	MRPS22	SOX3	GNRHR	GCNA	SEMA3A	DCC	ODAD4	HSF2BP	AMH	HSFY1	ZMYND15	BPY2	RBMY1A1	FOXJ1	NME8	ZSWIM7	SLC34A2	ODAD2	TEX11	ASTL	PLCZ1	DNAH11	RSPH4A	NEK10	LHX4	GLI2	HYDIN	SPEF2	CDY1	RSPH1	FANCD2	QRICH2	TERB1	RSPH9	BMP15	POLR3H	LHCGR	RNF212	PANX1	PLIN1	DNAAF2	PDHA2	TACR3	FANCI	MOV10L1	FLRT3	MNS1	HERC2	SOX9	DNHD1	STAG3	CYB5A	TTC29	SEMA3E	NPAP1	SYCP2	PROK2	ALMS1	ZPBP	FSHB	CHD7	LRRC56	CUL7	BNC1	BSCL2	DNAL1	SNORD116-1	CCDC40	DNAAF11	VAMP7	AURKC	DNAH8	HESX1	POR	HS6ST1	SRA1	DNAAF3	FANCF	TLE6	TRIP13	KDM5D	DNAH10	HSD3B2	MAP3K1	MAP2K1	MEN1	AGPAT2	FANCM	WDR19	SLX4	CFAP70	FGFR1	AMHR2	FANCL	CEP112	CFAP251	SEPTIN12	BRDT	C11orf80	FKBP6	CATSPER1	CFAP44	SOX10	PDE11A	FANCE	TEX14	PGR	FANCG	ARMC2	POU1F1	PRY	DRC1	RAD51	DAZ4	ODAD1	NANOS1
HP_VAGINAL_ATRESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VAGINAL_ATRESIA	FRAS1	FGFR2	KIF14	ARL6	BBS1	DYNC2LI1	GRIP1	ITGA8	GATA3	FREM2	MKKS	POR	WT1	RSPO2	CCDC28B	WNT3
HP_OVARIAN_GONADOBLASTOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVARIAN_GONADOBLASTOMA	DMRT3	WT1	ZFPM2	GATA4	NR0B1	SOX9	SRY	VAMP7	NR5A1	WWOX	MAP3K1	DHX37
HP_GONADOBLASTOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GONADOBLASTOMA	PAX6	DMRT3	IGF2	DHH	GATA4	WT1	SRY	NR5A1	WWOX	ZFPM2	NR0B1	SOX9	MAP3K1	KCNQ1OT1	CDKN1C	KCNQ1	VAMP7	DHX37
HP_APLASIA_OF_THE_UTERUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_UTERUS	RBM8A	CYP11A1	ARID1B	WNT4	LETM1	CPLX1	MYRF	WNT7A	FGFRL1	TP63	TXNDC15	AR	TOE1	MINPP1	FANCL	CTBP1	GATA3	DHX37	CYP17A1	NSD2	PPP2R1A
HP_WIDE_MOUTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDE_MOUTH	PIGN	UBE3A	ADAT3	PPM1D	WDR4	MGAT2	KAT5	VPS37D	TMCO1	CUL4B	KCNK4	HS2ST1	ACTL6B	HECW2	AFF3	QRICH1	GPC4	SNRPN	HDAC6	ZNF699	POLR1C	MAP3K7	SMARCB1	SMARCE1	GNPTAB	SSR4	CAMK2A	METTL27	PIGL	IFT140	ATPAF2	MBD5	PGAP1	STAG1	DPYSL5	AP4B1	SLC12A2	RNF113A	DHCR7	ARID1B	MTOR	TCF4	ADSL	MED13	THUMPD1	TWIST2	SMARCA4	H4C3	LIG4	GTF2IRD1	GNS	MED12	KAT6A	PIK3CA	SMARCA2	LARP7	PMM2	CD96	PRPS1	SCN1A	MAPK1	ACTG1	AP2M1	EXOSC5	CDC42	TMEM70	BCL7B	MLXIPL	NEXMIF	SEC23A	RPS6KA3	TRIP12	NCF1	FAM20C	TCOF1	SH3PXD2B	PACS1	MKS1	FKBP6	ASXL3	KATNB1	NMNAT1	RFC2	TBL2	SKIC3	UBE2A	ARID1A	PACS2	ZNF526	WDR73	BRPF1	SOS1	GTF2I	ATP10A	KCNH1	NALCN	SMARCD1	AGA	WAC	MED13L	SETD1A	GATAD2B	RALGAPA1	DDX11	SMARCC2	CLIP2	SPEN	TRRAP	KDM6B	KLHL15	DPF2	ROR2	ADAMTSL2	STX1A	ZNF148	SLC2A1	UBE3B	DNAJC30	SYNGAP1	NSUN2	TMEM147	CDC42BPB	PIGB	KIF7	CHD2	SOX4	SRCAP	SNIP1	STRADA	NR2F1	DPYD	ADNP	GNB2	AP4E1	ABCC9	H4C5	POLR1D	INSR	GLB1	ZMYND11	SETBP1	ATP6V1B2	ATIC	SPRED2	AP4M1	H3-3A	TASP1	ACTB	SF3B4	ALG9	CENPF	DDB1	AP1S2	AP4S1	KCNJ8	GPC3	KIF15	SF3B2	POLR1B	MYT1L	BUD23	ATRX	IDUA	ZSWIM6	KMT2B	HNRNPH2	IRX5	BAZ1B	ELN	ANKRD11	ARID2	POLA1	ZMIZ1	TMEM67	DVL1	ERLIN2	RAI1	EIF4H	H4C11	B3GLCT	OCA2	GTF2IRD2	HUWE1	KCNMA1	NRXN1	LIMK1	SET	NXN	RNF125	PSPH	SOX11	PIGU	TMEM270	WLS	RNF2	MAP2K1	GALNS	AUTS2	NONO	KCNN3	OFD1	TRIO	FLCN	PTDSS1	CDK19	SALL1	KDM3B	SLC6A1	RAF1	DACT1	TALDO1
HP_ORAL_ULCER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORAL_ULCER	ELANE	CD27	STAT4	IRAK1	TLR7	IL10	CCR1	CLPB	RELA	MVK	SYK	HLA-B	ELF4	DNAJC21	IFNGR1	TLR4	CYBC1	TNFAIP3	CAT	IL10RA	C4A	EFL1	SRP54	ADA2	IL7R	KLRC4	SPP1	SLC37A4	IL12A	SBDS	RIPK1	DCLRE1C	CD40LG	SLC46A1	IL23R	GFI1	MEFV	NOD2	G6PC3	UBAC2	TCIRG1	IL12A-AS1	FAS	ERAP1
HP_ABNORMALITY_OF_THE_TONGUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_TONGUE	MDM4	AMPD2	CHCHD10	SMARCE1	FKRP	CHRNG	ARSB	VPS37D	POU1F1	NKX2-1	CUL4B	GJB2	HS2ST1	SDHD	CPLANE1	RPGRIP1	GPC4	ZFP57	OTX2	IDS	TSHR	GNE	ZNF699	B9D2	KIAA0753	IPO8	BMP4	NEFL	DYNC2I1	FBXO28	FRAS1	LMNB2	EHMT1	GNPTAB	SGCG	IFT140	FZD2	WDR35	UBA1	SEC23B	DHCR7	GLB1	SPTLC1	TRAF3IP2	RASGRP1	TCTN3	GLI3	SH3TC2	LGI3	DYNC2H1	TGDS	LIMS2	SMO	SLC39A4	PEX16	RBM10	DNMT3B	HYMAI	POMT2	NFIX	SLC25A21	TCTN1	VPS33A	FREM2	TPO	TOPORS	MLXIPL	POMT1	LMNB1	EXOSC9	DVL1	LARGE1	IYD	CEP290	FDX2	FRG1	BAP1	RMND1	MKS1	IL6ST	B2M	GMPPB	PTH1R	C2CD3	FKBP6	AGA	SLC26A4	TUBB4A	HRAS	PQBP1	DUOXA2	POU4F1	HNRNPK	POMGNT1	RETREG1	KDM5C	RTL1	KIF7	PRX	NF2	LHX3	ARID1A	DOK7	PIK3CA	SOX5	RUNX2	MED13L	NEK9	PRRX1	GNAI3	AIFM1	CLIP2	SLC37A4	NOP56	CAVIN1	NEU1	CEP120	VWA1	TMEM107	MID1	MT-TE	ROR2	LMNA	PTEN	MAN2B1	CRPPA	FTO	SLC6A19	PDE6D	IDUA	EXOSC3	SMN1	SYNGAP1	SREBF1	PAX8	SPTBN1	PIGB	SLC52A3	SRPX2	SDHB	DHX30	COL11A2	AGTPBP1	PRUNE1	PTDSS1	MORC2	ATP1A2	SMARCB1	POLR1D	TG	TCOF1	FUCA1	INTU	PANK2	CDKN1C	ATP6V1B2	FOXG1	KRT5	OFD1	CDCA7	ALS2	TMEM67	INPP5E	WNT5A	RSPO2	ZBTB24	ALX3	REV3L	TSPYL1	PEX5	OPTN	GPC3	SMN2	COL2A1	TBX15	PTPN22	EDN1	TOE1	HELLS	ATRX	CCDC22	PLXND1	HEXB	COG7	VAC14	BAZ1B	AFF4	ELN	DVL3	XPNPEP2	RIPK4	SLC52A2	PRKCD	TRAF7	ERLIN2	EIF4H	PKP1	NTRK1	OCA2	MCTP2	BSCL2	NFASC	SET	NXN	RNF125	EXOSC8	PRR12	GUSB	THRA	TRIP11	KCNN3	DUOX2	MYH3	HLA-B	PRKAR1A	SNRPB	GPR101	P4HA2	FOXE1	ALG8	SNRPN	KCNQ1OT1	CAV1	KRT14	FAS	SDHC	TRMU	RPGRIP1L	FXR1	UBE3A	NEK1	MGAT2	CPSF3	NKX2-5	ABCC8	TSHB	AFF3	MYMX	VRK1	EDNRA	FOS	TXNDC15	MEGF10	DDX59	POLR1C	MYMK	POP1	TCTN2	MEG3	ATP13A2	EGR2	METTL27	ECM1	MBD5	PLAGL1	NDUFS4	COL7A1	AIP	SLC25A46	CCDC47	PEX3	HLA-DRB1	GTF2IRD1	GNS	SMARCA4	TMEM231	IL36RN	PI4KA	MTPAP	IFT80	PEX1	ASAH1	SNX14	PDGFB	PRKAG2	CLTRN	ECEL1	VPS13A	KY	SLC5A5	SBF2	PEX6	MMACHC	BCL7B	LMBRD1	SLC46A1	WDPCP	VPS13B	PEX19	NCF1	FAM20C	LAMA2	CRKL	PSMB8	TBCD	PPARG	RERE	SERPING1	AKT1	FAM111A	TMEM237	TMEM216	ACTB	DLK1	RFC2	FASLG	KAT6B	TBL2	GATA1	PIGW	PEX13	TRIM37	PRRT2	TRPV3	IGF2	ALG3	GTF2I	DYNC2I2	PROP1	B9D1	SOX9	RALGAPA1	RAB3GAP2	CACNA1A	KIF1A	GAA	MAPK1	GSN	ALG6	KCNQ1	ENG	STX1A	LIFR	CSPP1	DNAJC30	FIBP	PERP	ADGRG1	SETBP1	CDC42BPB	PLCB4	BCR	NOTCH2NLC	LHX4	FIG4	SNIP1	PEX11B	USF3	TERT	VCP	BTK	TELO2	H4C5	MPZ	PEX12	KCNH1	ACVRL1	COL11A1	INSR	MAN2C1	GIPC1	SLC35C1	PEX10	ZMPSTE24	POLR1B	BUD23	SLC25A24	PEX2	CUBN	GJB6	MEF2C	RAB3GAP1	FLNA	WNK1	KRT6A	GRIK2	POMK	GRIP1	HESX1	PEX14	MMP1	WRAP53	SUFU	RMRP	CASP10	KCNJ11	GTF2IRD2	KCNMA1	NRXN1	LIMK1	MBTPS2	RBBP8	ATP11A	SYT2	TBCK	AMN	SCNM1	TBX22	WNT10A	TMEM270	KCNK9	CLIC2	SCN9A	TAF1	PDE11A	PMP22	MED25	PIK3C2A	PIGS	FAM149B1	ADPRS	ELP1	PEX26	KLLN	CC2D2A	CSNK2B	AGPAT2	SCN1A
HP_MACROGLOSSIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACROGLOSSIA	AMPD2	SLC26A4	FKRP	ARSB	VPS37D	CPSF3	POU1F1	NKX2-5	NKX2-1	CUL4B	HS2ST1	ABCC8	SDHD	TSHB	GPC4	ZFP57	IDS	TSHR	FOS	GNE	IPO8	POP1	MEG3	EHMT1	GNPTAB	SGCG	METTL27	IFT140	PTEN	MBD5	PLAGL1	SEC23B	TRAF3IP2	AIP	LIMS2	CCDC47	PAX8	GTF2IRD1	GNS	SMARCA4	POMT1	PEX1	DNMT3B	HYMAI	POMT2	SNX14	PRKAG2	VPS33A	SLC5A5	CRPPA	BCL7B	TPO	MLXIPL	DVL1	NCF1	IYD	LAMA2	FDX2	PSMB8	PPARG	IL6ST	GMPPB	GLB1	FKBP6	AGA	ACTB	DLK1	HRAS	RFC2	PQBP1	DUOXA2	HNRNPK	POMGNT1	TBL2	GATA1	RTL1	PIGW	UBE3A	LHX3	ARID1A	IGF2	ALG3	PIK3CA	GTF2I	MED13L	NEK9	PROP1	CLIP2	GAA	CAVIN1	ALG6	KCNQ1	MT-TE	STX1A	ROR2	MAN2B1	IDUA	DNAJC30	FIBP	SETBP1	ATRX	SDHB	LHX4	SNIP1	USF3	TG	FUCA1	CDKN1C	ATP6V1B2	FOXG1	KCNH1	CDCA7	INPP5E	INSR	MAN2C1	WNT5A	ZBTB24	GPC3	BUD23	HELLS	HEXB	BAZ1B	AFF4	ELN	POMK	HESX1	ERLIN2	DUOX2	RMRP	EIF4H	KCNJ11	GTF2IRD2	KCNMA1	LIMK1	BSCL2	TBCK	AKT1	RNF125	TMEM270	GUSB	THRA	KCNN3	PIK3C2A	SMARCB1	PIGS	GPR101	FOXE1	KLLN	ALG8	SNRPN	KCNQ1OT1	CAV1	AGPAT2	SDHC	TRMU
HP_ABNORMAL_LIP_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LIP_MORPHOLOGY	VPS37D	TMCO1	BMP1	HS6ST2	CTCF	HS2ST1	IFT43	PLCH1	TGM1	GNE	ZNF699	KCNJ6	SMARCB1	RNU4ATAC	FAR1	AP3D1	FZD2	CDT1	BRCC3	DPYSL5	MEGF8	SIX3	CTNND1	SPOP	CYP26C1	GP1BB	MED13	DYNC2H1	KCNN3	TAPT1	TAF8	CHSY1	ANKRD11	WAC	RPS6KA3	CCDC8	DLL1	PQBP1	LARP7	ARID1B	ZNF407	FGF20	ANKLE2	NRCAM	POLR3A	CDC6	SATB2	H3-3B	ERCC5	JAG1	LMNB1	DHODH	DVL1	HSD17B4	LBR	TRPS1	CHN1	PIGN	WARS2	GDF1	TCF20	APC	NKX2-5	PTH1R	EDARADD	C12orf57	FKBP6	FLII	NCAPG2	KATNB1	TUBGCP2	KMT2A	ABHD5	HSPG2	KDM5C	COG1	BAP1	KLHL41	BRPF1	CHD8	ATN1	CHD7	FGF8	RAI1	NEK9	IRF6	GNB1	GJA5	POU4F1	LTBP3	GLI2	CLP1	MPC1	GNA14	MOCS1	CDH2	TRRAP	SCYL2	MAFB	SETD1B	LIPN	EXT2	PPP1CB	SLC1A3	FGFR1	GATA6	PCGF2	MYCN	MSX1	CAMTA1	ABCC9	CUL4B	KRT17	ERMARD	EZH2	COL2A1	KDM6A	GABRD	STXBP1	ZIC2	EDA2R	LAS1L	GALNT2	NBN	IGF1R	MEIS2	CHAMP1	TCOF1	FUCA1	PAFAH1B1	ALG11	FOXG1	FRMD4A	SYT1	TCF4	UBE3B	HIC1	CBL	EFTUD2	ACTB	MYOF	ABCA12	WNT5A	RSPO2	INSR	CDH1	TTC5	B3GALT6	TGDS	GPC3	FLT4	PAH	SRCAP	TNPO2	PURA	WDR37	TBX1	IDUA	PLXND1	POLR3GL	ASXL1	DVL3	LZTR1	OTX2	NOTCH2	SUMO1	EP300	PIEZO2	KCNJ11	FLI1	PIGG	PGAP3	EIF4H	STAG2	CKAP2L	TTI2	MCTP2	TMEM53	KDR	NXN	PIGO	METTL5	DCPS	SOX11	UNC80	BRAF	KCNH1	AP4E1	MASP1	MAGEL2	AFF2	TRIO	WASHC4	PITX2	MED25	SYNE1	DISP1	TRAPPC9	ATIC	ASPRV1	NRAS	PHIP	CNOT3	ESCO2	P4HTM	PRKACB	VPS35L	PPM1D	NEK1	KAT5	STIL	WDR4	MMACHC	SHOC2	TRIP11	NF1	MKRN3	WNT10B	SUFU	MAP3K7	TRAPPC10	MEG3	AVP	CTBP1	AMMECR1	RRAS2	METTL27	SATB1	AP4B1	FGF3	INPPL1	GLA	GREB1L	CLEC7A	SMOC1	GJB2	H4C3	EDA	MYOD1	SHMT2	ARX	GLIS3	CPLX1	FOXC2	CAST	DDX3X	MSX2	PMM2	LEMD2	SNX14	GRIA3	OTUD6B	PIDD1	TBC1D20	SNAI2	CHMP1A	SLC6A17	GRHL3	SOX18	STEEP1	IFT81	NCF1	MYH3	SUZ12	FBXO31	RAB3GAP2	PPP1R15B	RERE	PIGV	KIDINS220	SMAD4	WDR19	KDM1A	COG6	HRAS	SMARCC2	KRAS	NECTIN1	MUSK	HDAC8	OGT	MED12	KIF7	NAGA	IFIH1	GPC6	SMG8	MLXIPL	TAOK1	IL17F	PTCH1	TOE1	BPTF	MARS2	HERC2	UGP2	TSPEAR	PHGDH	MOCS2	MAPK1	AGL	TP63	ENG	ROR2	SLC26A2	HNRNPK	FIBP	ADSL	GATA4	ATRX	PTRH2	NOVA2	ADAM17	SNRPN	STRADA	FAM20C	GPC4	PRMT7	HIRA	PPP2CA	RPS19	EDAR	CACNA1C	ABCD1	SETD5	TAF6	BRCA1	CYB5A	ARVCF	AP1S2	KCNJ8	GLI1	NFIX	NUP107	CRLF1	SMO	CERT1	NEXMIF	DPM1	BANF1	PARS2	TGIF1	SH3PXD2B	RAB3GAP1	PPP1R12A	TDGF1	LIFR	UBE2A	ZBTB18	DMPK	UBE4B	FERMT1	ALG8	MESD	PIGW	KCNMA1	HPDL	ANKRD17	CASK	ATP6V0A2	EPB41L1	NAA10	DPF2	POR	SLC25A24	COL3A1	PIGU	ALX3	USP9X	HESX1	RNF2	DDX59	EMC1	B3GAT3	GAD1	AP4S1	EFNB1	CHST14	POU1F1	RIPK4	GFRA1	SC5D	GTF2H5	MEF2C	MECP2	NSD2	SASS6	HES7	DEAF1	UGDH	RBMX	IDS	CASZ1	ADGRG6	IDH1	ORC1	DYNC2I1	CANT1	EXTL3	IFT140	SPECC1L	TRIM8	FBN1	TBL1XR1	TET3	ALOX12B	EXT1	PERP	GJA1	RREB1	BMP2	TAF1	RIT1	EXOC7	DIS3L2	SCN1A	MED12L	ALG12	FOXH1	ASXL2	MTX2	NARS2	CHRNG	NDP	NSUN2	FLNA	AP1G1	YY1	RALA	TRAF3IP2	AGO2	PRDM16	KNSTRN	MAN1B1	TBCE	KAT6A	SKIC3	RTL1	CENPJ	FOXP1	MED13L	PDE4D	SLC2A10	PRKDC	XRCC4	NCAPD3	ZC4H2	PTEN	MESP2	TGFA	ZNHIT3	MID1	NUAK2	CIT	LMNA	ZNF148	POMT2	TAF13	SOX9	SYNGAP1	CDKL5	SLC9A7	KDM4B	SPTBN1	FREM1	COL11A2	JUP	PWRN1	RTTN	CYFIP2	PWAR1	GMNN	ARHGEF2	ATP7A	SPRED2	OFD1	MEOX1	CNOT2	EXOC2	DNMT3A	CDK6	ERCC6	ADARB1	NFIB	CLCN3	PIGT	CDK13	CCDC22	MMP23B	BLM	ATP1A2	CYB5R3	AFF4	ELN	ERCC1	FTSJ1	CLCF1	RAB5IF	IFT57	NEB	RIC1	ERLIN2	PKP1	TPM3	ALX4	TENM3	EXOSC1	LFNG	TLK2	OCRL	MBD5	SMARCA2	AUTS2	PLPBP	PUF60	CNTNAP1	LARGE1	GPR101	CILK1	FOXA2	MPDU1	CCNQ	ANTXR1	RSPRY1	EIF5A	ADAT3	AFF3	MYMX	HIVEP2	PAX3	CCBE1	MCM7	TNRC6B	FAT4	SPEN	RAB18	DSC3	SMG9	SKI	WNT3	MTOR	NKX2-6	THUMPD1	ATP1A3	SUMF1	OCLN	H4C9	WDR35	NODAL	YAP1	CDC42	TMEM70	MRPS28	EEF1A2	MAB21L2	ANGPT1	SEC31A	SHH	BCL11A	NOTCH3	VPS13B	GRIA1	LETM1	DHCR7	FBXO11	PSMB8	MGP	RAB11B	LHX4	LUZP1	PIK3CD	ARHGAP31	ATG7	GLB1	TXNL4A	PYCR2	PACS2	POMT1	DOCK7	GTF2I	TAB2	PLAA	ZMYM2	RNF135	XYLT1	CDH11	CSNK2A1	SEC23A	SLC2A1	PTCH2	ZNF292	CDC42BPB	BCR	ATP6V1E1	IER3IP1	ERCC2	KAT8	CACNA1I	KARS1	LIG4	CDON	RIN2	LMX1B	UPF3B	RAC3	AP4M1	ACVRL1	MADD	IFT52	CHST3	HDAC4	PDGFRB	ASH1L	LRP4	TRAF6	ATP6V1B2	KRT16	EGFR	HNRNPH2	IRX5	GJB6	CPLANE1	PKDCC	ARID2	KRT6A	STT3A	DYNC2LI1	MCM5	SON	GRIP1	OBSL1	B3GLCT	GTF2IRD2	LIMK1	MSL3	DHX37	PIGL	TMEM270	YWHAE	KANSL1	KCNK9	WLS	CLIC2	SLC35A1	AIMP2	SIN3A	TBR1	GAS1	PSMC3	GNAI1	SLC6A1	GBA1	EVC	PRKACA	WT1	AMPD2	PROKR2	PAX9	SEMA3E	HECW2	PDHA1	ZBTB20	LTBP4	HYLS1	PIGY	ASXL3	ADAMTS3	FRAS1	SALL4	EHMT1	GNPTAB	SPATA5L1	EDEM3	VPS51	PLG	COX7B	TCTN3	ALOXE3	WDR26	MYH8	SLC25A46	PTPN11	MBTPS2	ZEB2	DYRK1A	PTPRF	RPGRIP1L	VPS33A	HOXB1	KCNJ2	TRAPPC14	DSE	AP2M1	HK1	TWIST2	CREBBP	TNNI2	DDRGK1	KAT6B	KIF11	SCUBE3	PPP2R5D	MKS1	CLTC	AXIN2	SULT2B1	ARID1A	ZNF526	EBF3	KIF1A	MCOLN1	EIF2S3	BCAS3	MINPP1	SUPT16H	COLEC11	MAP1B	USB1	SDR9C7	CERS3	FTO	IL1RAPL1	DPM2	RAD21	EXOSC2	DLL3	SNORD115-1	PIGB	MAF	IREB2	DHX30	CHD2	RET	ADNP	NBAS	UBR7	POLR1D	CTNNB1	GRB10	ADAMTSL1	CYP24A1	PREPL	MAPK8IP3	MCPH1	TRMT10A	COG7	VAC14	BAZ1B	SLC35A2	IFT122	ZMIZ1	SEC24C	RPS23	MICU1	H4C11	RBL2	MFSD2A	IL17RA	FKTN	SMC1A	PIK3CA	MAPRE2	PUS1	GJA8	PAM16	ZNF462	TCF3	LRRC32	NFIA	PRDX1	RUNX2	FLCN	PTDSS1	ACSL4	CEP63	WNT10A	SIM1	RAF1	SIX1	BRD4	MGAT2	KCNK4	SLC39A4	QRICH1	EDNRA	NSD1	KCNJ5	POLR1C	NANS	CSF1R	BCOR	SREBF1	ADAM22	ORC6	WNT4	PHF21A	FGFRL1	PAK3	OSTM1	MRAS	BCL11B	IFT80	SMPD4	XYLT2	AP3B1	MAP2K2	EXOSC5	HS3ST6	BCL7B	LMBRD1	SLC46A1	PPP1R21	MAPKAPK5	CRKL	RPL10	DLX4	SLC45A1	COL11A1	CC2D2A	MED27	ERF	TGFB3	OPHN1	SOS1	COPB2	TUBB	ABCC8	CRTAP	CHD5	HGSNAT	ARSK	OCA2	KRT6B	TBC1D24	AARS1	B4GALT1	KMT2D	POMGNT1	RYR1	PDCD6IP	NLRP1	ODC1	ACER3	SLC29A3	KIT	GLI3	TFAP2B	PRKCZ	SETBP1	ANO1	PROP1	CAMK2G	ALDH6A1	SOX4	EVC2	MYO18B	NOG	NSRP1	FOXC1	DLK1	H3-3A	PPP2R1A	SF3B4	ALG9	FGD1	SLC35C1	DCHS1	BUD23	ACTA1	PGAP2	NIPAL4	CUBN	KDF1	CACNA1A	TTC26	PYCR1	LEMD3	DHPS	PPP2R3C	TBCK	AMN	SSR4	MDH1	ORC4	JMJD1C	RIPPLY2	MAP2K1	ZSWIM6	FGFR2	IL17RC	SMS	NONO	PORCN	CSNK2B	PCLO	IARS2	AASS	FBXL4	KNG1	CUL7	KIAA0753	HNRNPU	MYL2	PHC1	FBXO28	SMARCE1	DPYD	PIGK	ATP6V1A	PEX26	SMARCA4	TRAPPC4	KIF14	PHF8	NALCN	NKAP	RRAS	TSPAN7	KDM5B	FREM2	YARS2	CHUK	ZDHHC9	KMT2C	PSMD12	GMPPA	PACS1	AGA	RPL5	NEU1	ADAMTS2	PDPN	SETD1A	GATAD2B	CLIP2	VAX1	FIG4	GATA5	ACTG1	SMARCD1	PRKAR1B	CCNK	TMEM147	CSGALNACT1	TFAP2A	NAA20	CNOT1	GNB2	BDNF	COLEC10	POGZ	CWC27	TASP1	RAPSN	CDK10	ZFPM2	SCARF2	REV3L	DDB1	LTBP1	WNT9B	CDK5RAP2	COMT	XPNPEP2	KIFBP	FLNB	RPS7	PBX1	ASPM	HUWE1	SET	CEP135	ZPR1	KCNE5	THOC6	SNRPB	CDK19	KDM3B	AMER1	SHANK3	PPP3CA	FMR1	ITCH	CYP4F22	HDAC6	EXOC6B	RHOBTB2	ECM1	AIP	GTF2IRD1	GNS	KREMEN1	TCTN2	CLCN6	POC1A	TMEM94	SRD5A3	MYL11	PIGQ	CITED2	GLUL	TRIP12	MYMK	KNL1	IQSEC2	LRP6	BRF1	CD96	RFC2	BRAT1	DDX6	TBL2	PUS7	FHL1	DYNC2I2	KCNAB2	TFE3	WDR62	MID2	NELFA	KDM6B	EPG5	PRORP	ADAMTSL2	STX1A	DNAJC30	NPAP1	NIPBL	FKRP	DENND5A	PCDHGC4	H4C5	HMGA2	SNORD116-1	ALG13	SOS2	TOR1A	METTL23	GDF11	SMC3	PRIM1	SF3B2	ZMPSTE24	KIF15	POLR1B	IL6ST	EED	INTS1	RASA2	TWIST1	FOXL2	TMEM237	INTU	ALG1	CDC45	CEP152	ITGA8	NSDHL	EYA1	MAB21L1	PAX6	STK11	PIGS	NDN	HOXD13	CA2	UFD1	BUB1B	TALDO1
HP_NARROW_MOUTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_MOUTH	SH2B1	TNNI2	GABRA3	IARS2	SEMA3E	HSPG2	RPL10	ITGA3	CLCN3	CTCF	CENPT	ZBTB20	COL3A1	OTX2	HIVEP2	RTL1	LMNA	CASZ1	COL11A1	POLR1C	ZMPSTE24	FAT4	MEG3	RYR1	CCBE1	ORC1	ADAMTS3	CANT1	TTN	EXTL3	FGFR2	SPEN	TRIP4	AMMECR1	CDT1	COL11A2	SKI	TBX1	FBN1	ALDH18A1	ORC6	GLB1	RTTN	COL7A1	GP1BB	POLD1	LGI3	PHACTR1	B4GALT7	CAMTA1	RREB1	KAT6A	SEPTIN9	MMP1	TPM2	CEP57	LEMD2	NALCN	MYL11	ORC4	BCL11B	ECEL1	DSE	MED12L	FLNA	BIN1	MYH3	CREBBP	POLR3A	CDC6	TNNT3	GJA1	SP7	MAPRE2	MTX2	CHRNG	FAM20C	CRKL	FBXO11	PPP1R15B	TCOF1	BBS7	PRDM16	SPEG	LUZP1	SIN3A	PIGF	APC	BPNT2	SMAD4	TXNL4A	MYBPC1	RECQL4	SKIC3	PRRX1	COG1	PQBP1	PDPN	SATB2	MUSK	BRPF1	NFIX	DLK1	KCNAB2	POU4F1	GNAI3	BPTF	SUPT16H	PIGN	PIK3R2	GMNN	TUBB	MAPK1	DHCR24	SCYL2	MAF	PTEN	HEATR3	AUTS2	LTBP3	PIK3CA	SOX9	SYNGAP1	PCGF2	PLCB4	MDM2	RERE	KIF7	BCR	GABRD	STXBP1	OSGEP	BMPR1A	MED12	YWHAE	CHD7	GNB2	HIRA	CDC45	RIPK4	KARS1	IGF1R	CAV1	POLR1D	GSC	EIF4A3	PAX3	PRKCZ	CACNA1C	TRMT5	LMX1B	TAF6	POGZ	UBE3B	H3-3A	CHSY1	POR	TBC1D20	MADD	ARVCF	GRB10	DONSON	SMS	CHST3	SCARF2	WNT3	PAFAH1B1	AKT3	POLR1B	SETBP1	CRLF1	CDK13	MECP2	MMP23B	MAPK8IP3	TRMT10A	SLC25A24	PIEZO2	COG7	COMT	ASXL1	TWIST1	CLCF1	EP300	ZMIZ1	SEC24C	MCM5	SON	NOTCH2	ATAD3A	CHST14	NEB	DCHS1	UBE4B	BMP2	CCND2	EDN1	PIGA	HUWE1	SCN1A	SOX6	FREM2	SCNM1	DCPS	RLIM	TP63	TLK2	RNF2	NFIA	RAB3GAP1	JMJD1C	PTCH1	COL2A1	ATP6V0A2	B3GAT3	TBX4	NONO	CA2	GBA1	UFD1	RSPO2	AKT1
HP_MEDIAN_CLEFT_LIP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEDIAN_CLEFT_LIP	PIGN	DISP1	NEK1	DVL1	FGFR1	ZIC2	STIL	PLCH1	TGIF1	PTCH1	DLL1	HYLS1	FAM20C	DDX59	STAG2	RIPK4	SHH	GAS1	NODAL	GLI2	CDON	OFD1	PROP1	DVL3	FZD2	TDGF1	SIX3	FGF8	TCTN3	WNT5A	H4C3	FOXH1	SMO	ZSWIM6	DYNC2LI1	OTX2	GJA1	INTU	LHX4	SMC1A	ALX3	WLS	HESX1	SLC2A10	POU1F1	CILK1	FOXA2	EPG5	NUAK2
HP_GLOSSOPTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLOSSOPTOSIS	FLNA	COL11A1	COL2A1	MYMK	PLCB4	RSPO2	TGDS	COL11A2	RUNX2	MYMX	EDNRA	FIG4	SOX9	GNAI3	EDN1	PEX16	POLR1B	POLR1C	NFIX	SNRPB	BTK	RBM10	POLR1D	TCOF1	NFASC	VAC14	AFF4
HP_ABNORMALITY_OF_THE_DENTITION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_DENTITION	KRT14	ADGRV1	PAX9	ARSB	ZIC2	SEMA3E	VPS37D	CYP27B1	LRP4	IL11RA	CTCF	GJB2	HS2ST1	EEF1A2	PLCH1	ARHGAP29	LMNA	GPC4	C1R	TGIF1	DUSP6	EDAR	GABRA5	CNNM4	EP300	FAT4	PITX2	SMARCB1	ASXL3	NODAL	TERT	ADAMTS3	NDUFB11	ABCA5	FRAS1	PTPN11	SETD2	EHMT1	PRKAR1A	PGAP1	FZD2	TCIRG1	MEGF8	SIX3	CTNND1	TCF12	NSD2	VPS51	COL7A1	SIX1	RNF113A	SFRP4	ZMPSTE24	SEC24D	C1S	GP1BB	MYO7A	GNAS	DISP1	WDR26	GJB6	SMARCA2	ATP6V1E1	NOP10	NTRK2	CHSY1	NPHS1	ITGA6	MBTPS2	ZEB2	ANKRD11	RPS6KA3	TNFRSF11A	CCDC141	CCDC8	PDGFRA	DLL1	AXIN2	OBSL1	PCNT	SKI	LARP7	PTPRF	FLNA	H19	ARID1B	KCNJ2	TP63	CFAP418	HK1	PTH1R	CREBBP	POLR3A	STAG1	SP7	SATB2	ALMS1	CACNA1A	DVL1	SMCHD1	TRPS1	RUSC2	DPH1	FGFR3	YWHAG	KAT6B	TINF2	ERCC8	FGF10	RIN2	SCUBE3	DSPP	MKS1	APC	MYL2	MSX1	IL6ST	LONP1	EDARADD	IGF1	FKBP6	FLII	KATNB1	NMNAT1	TUBGCP2	LBR	RUNX2	CHRNE	DPH5	IFT43	SULT2B1	CTSC	NECTIN1	KDM5C	ARID1A	GLI2	BAP1	COL2A1	TRIO	ZNF526	SMARCAL1	NDNF	SLC37A4	FGF8	LRP6	SOX5	MAP3K7	MCOLN1	SPRY4	RAI1	EIF2S3	BCAS3	CDON	POU4F1	RECQL4	GNRHR	USH1G	PIK3R1	USB1	TBCE	SPEN	GABRA2	PEX6	P4HB	SDR9C7	EYA1	LIPN	DHODH	FBN1	MAN2B1	PPP1CB	IL1RAPL1	DPM2	RAD21	PCGF2	LETM1	FGFR1	CLDN19	IKBKG	TNFSF11	SNORD115-1	MAF	ABCC9	CUL4B	KRT17	LAGE3	KDM6A	CLPB	PTDSS1	EDA2R	ADNP	COL1A2	SLC25A24	KCTD1	SCN3A	POLR1D	HNRNPK	AMTN	ITGB4	DDB2	TCOF1	COL3A1	INTU	KMT2D	SRP54	ATP6V1B2	SOX18	IRF6	RNF13	MARS1	ERCC2	TCF4	PLEC	UBE3B	NOTCH3	GRB10	ABCA12	WNT5A	CDH11	SGMS2	ADAMTSL1	LRP5	ANTXR1	SELENON	COL5A1	WDR35	PLXND1	VPS13B	MAPK8IP3	CTSK	TRMT10A	HCN1	VAC14	POLR3GL	BAZ1B	PRKACA	CCDC28B	ZNF341	DVL3	AMBN	RIPK4	SLC35A2	IFT122	FGFR2	NDST1	SEC24C	RPS23	NOTCH2	PCDH15	SUMO1	WDR73	FEZF1	ELMO2	FOXH1	EIF4H	SHANK3	EDN1	TTI2	IL17RA	EVC2	SHH	MCTP2	ATP6V1A	PAK2	C12orf57	SLC13A5	SIN3B	EFL1	RHOA	NXN	ITGA7	GJA8	AIRE	SOX11	AGXT	POLR3K	KCNH1	SRCAP	PRR12	ARV1	COL17A1	SPART	THRA	SIN3A	MASP1	LAMB3	MMP13	HNRNPH1	FLCN	ACSL4	FZR1	SYNJ1	PEPD	WNT10A	HBB	SNRPN	COL1A1	SLC1A2	NGF	DPP6	SP6	ERCC5	ASPRV1	ACVR1	AMER1	WDR11	SMOC2	PRKACB	BRD4	UBE3A	CBS	ERCC6	NEK1	MGAT2	STIL	TSC1	ACP5	SCN8A	SHOC2	PRDM5	TRIP11	NF1	MKRN3	EDNRA	CHD7	WNT10B	NAA10	SUFU	NECAP1	KCNJ5	CDH3	POLR1C	IFT52	XRCC4	BCOR	RBM28	SEMA3A	PLG	ENAM	DCC	FGF13	OCRL	CTBP1	SSR4	AMMECR1	METTL27	ATP1A3	MBD5	ITGB2	SYNGAP1	CDK5RAP2	SATB1	TBX1	FGF3	TGFB1	CLEC7A	POLD1	FGFRL1	PLEKHM1	DHDDS	TONSL	HCCS	CCDC47	EDA	MYOD1	TMEM231	HMGB3	NARS1	BCL11B	UROS	FGF12	CPLX1	ALPL	LEMD2	SNX14	GTF2H5	GRIA3	AP3B1	EXOSC5	GRHL3	BCL7B	SMAD3	TPRKB	TRAIP	SEC23A	IDS	CDH23	NCF1	DOCK3	FAM20C	MYH3	MYSM1	AMELX	RPL10	POLR3B	PTCH2	PPP1R15B	ITGB6	DLX4	SMC1A	CDH1	PPP3CA	KIDINS220	AHCY	WDR19	COL11A1	MED27	KDM1A	PPIB	COG6	TMCO1	PORCN	HRAS	HDAC8	SOS1	KRAS	GABRB2	IFIH1	DKC1	PIGG	SMG8	MLXIPL	ATP1A2	FLRT3	ERCC4	IL17F	PTCH1	HERC2	SMARCC2	RAB3GAP2	TSPEAR	TTC7A	THOC6	PQBP1	ARSK	CENPE	ROR2	KRT6B	TBC1D24	RELT	CSTB	ERCC3	SLC10A7	NSUN2	LTBP3	ATRX	KCNA2	NUP133	ANTXR2	FGF23	ZNF469	GNAI3	HIRA	EIF4A3	GLB1	GLI3	OFD1	TFAP2B	AEBP1	SETBP1	WDR72	TAF6	SOX4	SBDS	FOXC1	NUP85	BRCA1	CEP152	INSR	ARVCF	PUF60	PTEN	RDH11	ORC1	FGD1	SLC35C1	ATR	SETD5	TDGF1	GLI1	DCHS1	CARS1	BUD23	NFIX	CKAP2L	WWOX	SOST	CERT1	PYROXD1	ALOXE3	CIB2	NIPAL4	TYMS	DSP	KCNB1	CLTC	BANF1	PTHLH	MAP2K1	MIA3	SLC24A4	CHD3	SH3PXD2B	KDF1	GJA5	TBL1XR1	LIFR	TPM3	LAMC2	LMBRD2	MMP1	NSD1	KIF1C	GPR101	PAPPA2	STAT3	FERMT1	GAS1	MESD	PLK4	LEMD3	PIGA	KCNMA1	LAMA3	NRAS	MMP20	ATP6V0A2	SH3BP2	SMARCD2	PPP2R3C	SERPINH1	MSX2	DPF2	GPC3	NECTIN4	KISS1R	KRT83	ALX3	USP9X	RNF2	DDX59	SOX10	CYFIP2	PEX1	CEP85L	BBS4	JMJD1C	GALNS	CXCR4	TECPR2	B3GAT3	EFNB1	ANAPC1	BBS1	ZSWIM6	LMX1B	PDZD7	IL17RC	SMS	NONO	ROGDI	WDR4	FGF17	NSDHL	KIAA0753	DEAF1	DNM1	NHP2	CACNA2D1	CDK19	CNOT1	FBXO28	DPYD	PIGK	HOXD13	PIGL	IFT140	EVC	MECP2	SPECC1L	ACD	DHCR7	TBC1D2B	FAM111A	DSG4	TWIST2	SMARCA4	ESPN	LIG4	MMP2	EXT1	ALOX12B	CAMTA1	MED12	GJA1	RREB1	CREB3L1	PARN	KAT6A	SUOX	CLCN7	COX4I2	BMP2	ACTL6B	TSPAN7	KRT5	DCAF17	SLC29A3	HSPG2	FREM2	ADAMTS10	MTX2	HS6ST1	HLA-DQB1	GFPT1	DDR2	ZDHHC9	KMT2C	PCYT1A	CHRNG	HSPA9	PSMD12	TBX3	YY1	ORAI1	TRAF3IP2	AGO2	GREM2	FARS2	PACS1	PIGF	C2CD3	AGA	HDAC4	TPM2	XPC	CTC1	GTF2E2	APC2	ANKH	CA2	ADAMTS2	BMP4	CDC42	DLX3	TGM1	NPM1	ANOS1	SETD1A	GATAD2B	PDE4D	GDF5	TNFRSF11B	CLIP2	HACD1	FIG4	KANSL1	CTDP1	CEP120	TGFA	SMARCD1	MID1	TMEM165	NUP107	IDUA	SOX9	ODAPH	IGF2	TFAP2A	FREM1	ALKBH8	KIF7	CCN2	UROD	NAA20	PWRN1	LYST	ENPP1	GNB2	IL17RD	WRAP53	CAV1	PWAR1	DSE	KRT86	OSGEP	CNOT2	DMP1	CDK10	DNMT3A	MPLKIP	SCARF2	REV3L	NSMF	CHST3	IRF5	KLK4	B3GLCT	PIGT	CDK13	AARS1	TRAK1	COMT	PHEX	BPTF	PAX1	MTM1	ELN	HLA-DQA1	FAM20A	GNRH1	AKT1	KIFBP	FLNB	WHRN	IFT57	RIC1	ATRIP	ALDH3A2	PROK2	SNX10	MAGEL2	PKP1	NTRK1	B3GALT6	OCA2	XYLT1	ALX4	CLDN1	HLA-DRB1	HUWE1	POF1B	ERCC1	CAT	SET	ST14	SMARCE1	RBBP8	RLIM	BRAF	GUSB	BRF1	ACTA1	CELF2	KCNN3	KCNE5	SMAD2	PROKR2	FKBP10	SNRPB	CILK1	COL9A2	TBX4	VARS1	RSPRY1	VDR	DLG1	TERC	ADAT3	MAP3K20	CYP4F22	BLM	AFF3	HIVEP2	POP1	CACNA1B	GPR68	CCBE1	AP3B2	STX16	SLC12A2	RSPO1	CNKSR2	FAM83H	GFI1	COX7B	AIP	SLC39A13	GTF2IRD1	TENT5A	NHS	KREMEN1	POC1A	KISS1	CACNA1C	RTEL1	MAPK1	PLOD1	MEIS2	NFKBIA	MAPRE2	SLC38A3	USH1C	TWIST1	IQSEC2	TBCD	PURA	UBR1	SZT2	DYRK1A	NALCN	GALNT3	RFC2	ABL1	TBL2	GRHL2	MYMX	TRIM37	TRPV3	PUS7	NEPRO	TACR3	ACOX1	TAC3	GTF2I	TAB2	EMC10	GHR	PARS2	PIK3C2A	PRKD1	ZMYM2	NELFA	KDM6B	CENPJ	STX1A	ELANE	DNAJC30	NPAP1	JUP	PERP	CDC42BPB	PLCB4	COL5A2	ASPH	NIPBL	CUL7	STAG2	CACNA1I	RAB23	H4C5	HMGA2	DOCK7	SNORD116-1	KRT6A	UPF3B	DALRD3	XPA	B4GALT7	HESX1	MADD	ARL6	TARS1	CCR6	SMC3	FN1	ZBTB7A	PRIM1	PDGFRB	GATA1	KIF15	POLR1B	TRAF6	KRT16	LOX	DNAJC21	LMNB1	GABRG2	IRX5	SNAP29	SMOC1	LGI4	RAB3GAP1	ARID2	DYNC2LI1	SON	TP53RK	GRIP1	CAMK2B	CYP27A1	TANC2	GORAB	DPH2	RMRP	GRIN2D	POLR2A	PLXNA1	NKX2-1	GTF2IRD2	LIMK1	DHX37	MED13L	SCNM1	STIM1	USH2A	CRLF1	TMEM270	KCNK9	GABBR2	AIMP2	OTUD5	KCNQ1OT1	UBA5	CYP2R1	NUS1	KRT81	PIGS	ACP4	SOBP	HEPHL1	UFD1	KMT2A	FUCA1
HP_ABNORMALITY_OF_THE_GINGIVA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_GINGIVA	F13A1	IRF2BP2	ITGA2B	WIPF1	MGAT2	FAM20A	VPS37D	TSC1	KCNK4	FIP1L1	COL3A1	AFF3	REST	GPC4	TET2	IDS	C1R	PDGFRB	HIVEP2	RACGAP1	KCNJ6	F13B	CCBE1	TERT	ADAMTS3	ABCA5	FBXO28	EXTL3	FAT4	GNPTAB	PLG	METTL27	ECM1	CDKN1B	DVL3	ITGB2	FZD2	ELOVL4	FGF3	GP1BA	TRIM8	DHCR7	STAT5B	GLB1	GFI1	IRF9	TCTN3	C1S	WNT5A	NCF1	TWIST2	NHP2	GJB2	FCGR2C	BLOC1S5	KCNN3	MMP2	GTF2IRD1	ZEB2	PLEKHM1	GP1BB	NOP10	PARN	OSTM1	CYBA	TCIRG1	TINF2	TERC	GP9	FGG	CYBB	NFIX	AP3B1	CLTRN	CDKN2B	RTEL1	PRKAR1A	FERMT1	DDR2	BCL7B	MLXIPL	ALMS1	LMNB1	DVL1	VPS13B	ELMO2	ANTXR2	FAM20C	MYSM1	CYBC1	RIN2	HPS1	SH3PXD2B	NEU1	LYST	ATG7	FKBP6	AGA	HYLS1	CTSC	KIF23	ASXL3	FGA	CD96	RFC2	USB1	LBR	CTC1	WAS	TBL2	SMAD4	TMCO1	LMAN1	TRPV3	F5	ADAMTS2	BLOC1S3	GTF2I	SLC37A4	NPM1	KIF7	KCNH1	KIF1A	RARA	FGB	RALGAPA1	SCARB2	ATP6V1B2	CLIP2	PIGN	BCOR	MAP1B	CDKN2C	ZNHIT3	ROR2	STX1A	SATB2	SLC17A5	SC5D	SLC6A19	PML	ITGB3	ELANE	IDUA	DNAJC30	TBC1D24	PERP	PLAGL1	HPS3	IER3IP1	CLPB	FIG4	NABP1	FGFR2	ZBTB16	IFNG	PRMT7	SLC29A3	WRAP53	INSR	AEBP1	SETBP1	MMP14	F7	B4GALT7	DKC1	SERPINF2	PIGA	NCF2	STAT3	SLC35C1	MPL	SOS1	GBA1	MCFD2	BUD23	F10	SRP54	PRF1	JAK2	VAC14	TYMS	BAZ1B	RMRP	GJB6	ELN	MIA3	F2	KRT6A	IL18BP	NOTCH3	NOTCH2	EMC1	GORAB	MAN2B1	DSP	NTRK1	EIF4H	WDR26	ABCC9	SBDS	GTF2IRD2	KCNMA1	LIMK1	USP9X	MBTPS2	CAT	TBC1D2B	TBCK	NXN	GPC3	CDKN1A	TMEM270	OCRL	HYMAI	CD40LG	GNAQ	MEN1	GUSB	MYD88	AIMP2	CXCR4	CNTNAP1	DHCR24	NUMA1	PIGS	SAMD9	F8	NGF	TBL1XR1	NCF4	TSC2
HP_GINGIVAL_FIBROMATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GINGIVAL_FIBROMATOSIS	KCNH1	MEN1	FAM20A	NOTCH3	TSC1	ANTXR2	IFNG	REST	ABCA5	SOS1	PDGFRB	KCNN3	ELMO2	FAM20C	DHCR24	CDKN2C	CDKN2B	ATP6V1B2	CDKN1B	CDKN1A	TSC2
HP_MICROGLOSSIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROGLOSSIA	GNAI3	EDN1	TRIM37	DHCR7	PRRX1	MYMK	NEK1	BMP4	SMO	GLI3	LMNB2	RBBP8	PLCB4	ECM1	OTX2	PTDSS1	TBX15
HP_ABNORMAL_UVULA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_UVULA_MORPHOLOGY	HYAL1	ZIC2	FANCB	STIL	COL2A1	HAAO	PLCH1	UBE2T	BGN	FGFR2	TP63	TGIF1	RTL1	FLNA	DDX59	IPO8	PIGY	BMP4	RNU4ATAC	NODAL	ORC1	TTN	CRPPA	PTCH1	TGFBR1	AMMECR1	PIGV	IFT140	FKRP	PGAP1	CDT1	TDGF1	SIX3	SIX1	ORC6	TCTN3	GLI3	SLC39A13	KCNN3	ZEB2	TGFBR2	SHMT2	IRF6	B4GALT7	TMEM231	POMK	DLL1	ALG3	COL11A2	SMPD4	FOXH1	CHD4	DDX3X	DAG1	GAS1	FGF8	MYL11	ORC4	PALB2	SHH	BIN1	CDC6	POMT1	SATB2	SMAD3	BRCA2	KMT2C	B9D2	PIEZO2	FGFR3	DHCR7	FBXO11	POMT2	FGF10	COL11A1	SERPING1	TGFB2	HYLS1	RAD51C	TXNL4A	LARGE1	FANCD2	HNRNPK	RECQL4	KAT6B	SKIC3	SMAD4	RPL5	IGBP1	TGFB3	POMGNT1	CDH11	MAD2L2	DISP1	DLK1	FANCA	KIF7	COL4A1	FANCI	SMARCD1	CDON	GLI2	POMGNT2	SIAH1	BRIP1	SUPT16H	GMNN	PI4KA	DHCR24	RFWD3	XRCC2	EYA1	SEC23A	ROR2	RXYLT1	PPP1CB	FTO	STAC3	FGFR1	SPTBN1	UBB	DLG3	ASPH	SNRPN	GNAI3	STAG2	EIF4A3	AEBP1	GRHL3	ATP6V1B2	SETD5	MEG3	KCNH1	B3GALNT2	BRCA1	KCNK9	METTL23	KIF14	FANCF	SPEG	EDN1	TBCE	TBX1	PGAP2	SELENOI	WDR35	SMCHD1	FKTN	POLA1	RPS23	SON	GJA5	B4GAT1	FANCM	SLX4	BCOR	RYR1	XYLT1	PIGW	CDC45	ERCC4	FANCL	MAP3K7	PGAP3	SMC1A	PLCB4	TBX22	GJA8	PIGO	USP9X	PRR12	PGM1	FANCE	FANCG	PTDSS1	CUL3	ALG9	POGZ	RPS28	NXN	AMER1	SMS	RAD51	FANCC	PIGL
HP_ABNORMAL_PALATE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PALATE_MORPHOLOGY	GABRA3	MECOM	APC2	TMCO1	IL11RA	CTCF	HS2ST1	PLCH1	FOXE3	CPLANE1	ARHGAP29	RPGRIP1	GNE	ZNF699	CPT2	CHRNA1	KCNJ6	RNU4ATAC	TPM2	PTPN11	KLHL7	FKRP	PGAP1	FZD2	CDT1	DPYSL5	MEGF8	SIX3	CTNND1	SEC23B	SIX1	CYP26C1	PEX10	SEC24D	GP1BB	MAT2A	ADA2	DYNC2H1	KCNN3	TAPT1	DBH	CHSY1	MECP2	ANKRD11	TGFBR2	COL6A1	DLL1	STAMBP	FGF20	COL6A2	RPS29	NRCAM	POLR3A	CDC6	LZTR1	TOPORS	SP7	SATB2	BRCA2	REEP1	DHODH	DVL1	SMCHD1	HSD17B4	RPL35A	TRPS1	CHN1	NIPA1	PIGN	RUSC2	WNT4	WARS2	RPL26	PGM3	APC	MYL2	BPNT2	C12orf57	FLII	KMT2A	CHRNE	HSPG2	KDM5C	IGBP1	MKS1	PEX3	CHKA	COG1	BAP1	KLHL41	PIK3CA	ATN1	DDHD2	CHD7	FGF8	SOX5	RAI1	NEK9	IRF6	GNB1	RECQL4	GLI2	CLP1	POMGNT2	GNRHR	AEBP1	EBP	CDH2	FGF9	EFL1	TRRAP	MAFB	FBN1	PPP1CB	FGFR1	PCGF2	FLNB	MYCN	MSX1	CAMTA1	DLG3	CUL4B	ERMARD	COL2A1	KDM6A	ZIC2	NBN	IGF1R	MEIS2	CHAMP1	TCTN3	GSC	TCOF1	KMT2D	FARSB	UBE3B	EFTUD2	SLC25A1	WNT5A	RSPO2	ALX3	KIAA0586	CDH1	TTC5	B3GALT6	TGDS	RYR1	GPC3	RAPSN	RB1	CDKL5	KIF15	CCDC32	PAH	SPEG	PURA	SELENON	TBX1	COL11A1	CTU2	PLXND1	POLR1B	ASXL1	BIN1	CCDC22	DVL3	DOK7	OTX2	NOTCH2	SHOX	MOGS	PIEZO2	TMEM237	FLI1	MYH2	PGAP3	PTEN	MCTP2	SOX6	NXN	ITGA7	FGFR3	AGRN	PIGO	HYMAI	IGF2	KCNH1	AP4E1	MASP1	PEX1	SMARCB1	TRIO	MCM3AP	MED25	DISP1	WDR11	PHIP	CBS	NEK1	HBA1	KAT5	CPSF3	STIL	FGFR2	POLRMT	SHOC2	NF1	MEGF10	HMGA2	SUFU	GLI3	MYMK	ZMPSTE24	CTBP1	AMMECR1	RRAS2	FOXE1	TUBB6	AP4B1	GREB1L	LRP5	SMOC1	CCDC47	SLC25A22	MYOD1	BUB1B	SHMT2	TMEM231	PAX1	ARX	GNAO1	CPLX1	FOXC2	GDF6	SLC5A7	DDX3X	MSX2	PMM2	SNX14	GRIA3	OTUD6B	SIX2	TBC1D20	GMPPB	FLNA	GRHL3	SMAD3	MYH3	FBN2	NUP88	RAB3GAP2	DUSP6	COX6A2	RERE	PIGV	TMEM216	SMAD4	ARCN1	PIGH	KAT6B	PEX13	HRAS	KRAS	NECTIN1	MUSK	HDAC8	MED12	KIF7	FANCI	TAOK1	B9D1	PTCH1	TOE1	PEX11B	PHGDH	GDF3	THOC6	MAPK1	PQBP1	TP63	ENG	TIMM50	SKI	ROR2	PEPD	HNRNPK	ERCC3	SH2B1	GATA4	SCN1B	NEB	PLAGL1	TBX6	ALG2	SNRPN	FAM20C	COLQ	SLC18A3	KPTN	HIRA	PPP2CA	CHRND	RPS19	EIF4A3	SETD5	TAF6	LMBRD1	CHRNB1	BRCA1	TWIST1	CEP152	ARVCF	MRPL12	ALX1	FANCF	PAFAH1B1	CARS1	RRM2B	NFIX	NUP107	PITX1	CRLF1	SMO	PEX2	KMT2B	DPAGT1	TNNI2	DPM1	OGDHL	MAP2K1	TGIF1	CDKN1C	CHD3	SH3PXD2B	SEMA5A	RAB3GAP1	RNF113A	CLCF1	TDGF1	LAMB2	TPM3	FANCM	NSD1	EYA1	MESD	PEX26	PIGW	SCN4A	PIGA	HPDL	ANKRD17	RPS17	DEF6	CASK	ATP6V0A2	SH3BP2	ANK1	NAA10	KISS1R	PIGU	USP9X	HESX1	MAMLD1	DDX59	PDE11A	RNASEH1	B3GAT3	FANCE	IGLL1	GAD1	AP4S1	EFNB1	FAM149B1	CHST14	AP1S2	POU1F1	DLX4	BBS1	SLC25A19	GFRA1	SC5D	WDR4	CTSK	FANCB	HES7	DEAF1	GPT2	ACTA1	KIAA0753	IPO8	ORC1	WASHC5	PLOD1	RPS24	MTM1	IFT140	PEX5	COL11A2	UBA1	PDHX	RPS27	TBL1XR1	TET3	EXT1	GJA1	RREB1	ALG3	BMP2	TAF1	RIT1	EXOC7	HS6ST1	ADAMTS10	MED12L	KBTBD13	GFPT1	DDR2	FOXH1	MTX2	MYH7	CHRNG	DST	B9D2	NEFL	LOXL3	HSPA9	CEP290	YY1	EARS2	NALCN	TGFB2	STAT3	C2CD3	ARNT2	RAD51C	POLR1A	KAT6A	SKIC3	FOXL2	FANCA	ANOS1	ATR	SMARCD1	MYPN	FRMPD4	SLC2A10	ZC4H2	CEP120	MESP2	ZNHIT3	MID1	NUAK2	MT-TE	PEX16	LMNA	MT-CYB	NSDHL	POMT2	HCCS	COL6A3	SOX9	SYNGAP1	SHH	MYL1	SPTBN1	UBB	COL13A1	SPTBN4	CDC45	HERC2	ABCC6	GMNN	ARHGEF2	SOX11	ATP7A	UPF3B	SPRED2	OFD1	MEOX1	EPG5	DGCR8	CHAT	PIGY	NIPA2	ERLIN2	EDN1	ADARB1	PIGT	COL9A2	AFF4	FKTN	POLA1	PSAT1	EP300	PTPN14	B4GAT1	RIC1	PHF8	PROK2	ERCC4	MAP3K7	NFASC	MFAP5	HBA2	LFNG	TLK2	OCRL	SMARCA2	CNTNAP1	COL1A2	PRKAR1A	SMAD2	PROKR2	LARGE1	CILK1	FOXA2	RPS7	ANTXR1	DLG1	EIF5A	ADAT3	CLCN3	MYMX	COG5	HIVEP2	TTN	CBL	RNU12	TMEM107	TRIP4	AHI1	RAB18	SLC26A2	SMG9	WNT3	OCLN	MBTPS2	NODAL	RPL15	PRPS1	RPL11	ECEL1	DSP	YAP1	EEF1A2	RARS2	SEC31A	NOTCH3	VPS13B	NDUFB11	LETM1	DHCR7	FBXO11	MPLKIP	LHX4	SERPING1	SCO2	ARHGAP31	ATG7	TXNL4A	ABL1	RPS10	EFEMP2	POMT1	TACR3	TUBB3	CNTN1	TAB2	SLC25A12	CCBE1	PEX12	PLAA	ZMYM2	PI4KA	MYO9A	XYLT1	CDH11	CSNK2A1	SEC23A	PTCH2	ZNF292	INPPL1	PLCB4	COL12A1	GNPAT	BCR	NOTCH2NLC	ATP6V1E1	IER3IP1	MYLK	RAB23	TELO2	PLAG1	CDON	ANAPC7	RIN2	AP4M1	ACVRL1	MADD	TARS1	MAN2C1	CHST3	GIPC1	FN1	ASH1L	LRP4	ACTB	LOX	LRRC8A	HNRNPH2	IRX5	TGFB3	PYCR2	SON	GRIP1	PEX14	SURF1	OBSL1	B3GLCT	LMOD3	PIGL	MED13L	SCNM1	TBX22	FAT4	GRIN1	TECR	KCNK9	WLS	LTBP2	SIN3A	TBR1	GAS1	ALG14	RTL1	SEPTIN9	ELN	RBM8A	CD79A	ACBD5	NLRP3	MN1	MKKS	SEMA3E	YARS1	SDHD	HECW2	ZBTB20	LRP12	GPC4	HYLS1	BMP4	ASXL3	FRAS1	SALL4	SPATA5L1	NSD2	EDEM3	VPS51	TSR2	SLC25A46	RPS28	ZEB2	B4GALT7	CCDC141	PDGFRA	SPOP	CFL2	RBM10	DAG1	RPGRIP1L	HOXB1	LARS2	TWNK	KCNJ2	PALB2	DSE	TUBA1A	CREBBP	RPS6KA3	TRIP13	GLE1	AP1G1	PIK3R1	TGFBR1	FGF10	SUMO1	STAG2	PIGQ	SCUBE3	PPP2R5D	CLTC	NDUFAF6	LBR	RUNX2	DPH5	SOX3	HEY2	MAD2L2	NDNF	COL4A1	KIF1A	SPRY4	EIF2S3	MINPP1	BRIP1	SUPT16H	COLEC11	MAP1B	DHCR24	SPEN	SIK1	FTO	SRY	STAC3	DPM2	RAD21	DLL3	PIGB	FOXF1	DHX30	RET	ZBTB24	POLR1C	RIPK4	GRM7	POLR1D	INTU	ATP6V1B2	MARS1	IBA57	GRB10	MEG3	IL6ST	ERCC5	TBCE	PRMT7	COL5A1	SLC6A17	WDR35	MAPK8IP3	GATA3	VAC14	RPS15A	CCDC28B	ZNF341	SLC35A2	SEC24C	RPS23	PEX6	FEZF1	ELMO2	SPECC1L	GBA1	SMC1A	MAPRE2	PUS1	GJA8	LRRC32	THSD4	PRR12	NSMF	HNRNPH1	SYT2	FLCN	PTDSS1	SLC35D1	TRPV4	BUB1	AMER1	FANCC	NDUFA8	BRD4	HYAL1	PRDM5	COL3A1	BGN	QRICH1	EDNRA	KCNJ5	KIFBP	TCTN2	BCOR	CRPPA	SEMA3A	ATAD1	DCC	GATA1	HYOU1	STAG1	DPH1	ADAM22	ACTA2	ORC6	THOC2	FGFRL1	KATNIP	G6PC3	SPRED1	PAK3	COL9A1	MRAS	SMPD4	CHD4	DGCR6	FANCL	GTF2H5	WNT7A	MAP2K2	FH	PPP1R21	MAPKAPK5	PEX19	DOCK3	PEX7	CRKL	ALX4	MYBPC1	CC2D2A	INPP5E	WDR73	PAX7	TUBB	BMPER	PIGG	FLRT3	DDX11	MSTO1	BICRA	RPL18	XRCC2	RPL31	GJB2	TBC1D24	SLC10A7	NSUN2	TBX2	DGCR2	SIX5	OSGEP	BMPR1A	GNAI3	RILPL1	ODC1	ACTN2	DLX5	SETBP1	BRAF	ANO1	PROP1	ALDH6A1	MYO18B	B3GALNT2	NSRP1	POR	SOX2	INSR	SF3B4	FGD1	SLC35C1	KIF14	DCHS1	CD79B	SNAP25	PGAP2	SELENOI	PYROXD1	SLC25A24	NUP188	RAF1	NPHP1	RPS20	COX14	GJA5	MT-TN	PYCR1	ACTG2	DHPS	AKT1	SOX10	TMEM67	NEUROD2	JMJD1C	RIPPLY2	FOXP2	PUM1	FANCG	SMS	NONO	PORCN	SNRPB	TBCK	WBP11	PCLO	PDZD8	FGF17	AASS	IFT122	HAAO	UBE2T	HNRNPU	DLK1	TCF3	LEMD3	PPP3CA	CNOT1	TUBG1	FBXO28	DPYD	FBXL3	ENPP1	ATP6V1A	TCF4	TWIST2	LIG4	POMK	RRAS	SCN2A	NCDN	CD96	TCTN1	ORC4	FREM2	YARS2	CHUK	ZDHHC9	IGHM	KMT2C	FIG4	DMXL2	TBX4	PAX3	GTF2E2	LAGE3	RPL5	ARID1A	CEP41	AR	PRRX1	GATAD2B	HACD1	VAX1	KANSL1	RFWD3	RXYLT1	PDE6D	ERF	PRKAR1B	BUB3	TFAP2A	SDHB	BLNK	NRAS	GNB2	COLEC10	POGZ	TASP1	CDK10	TNNT3	DONSON	SCARF2	CENPF	REV3L	LTBP1	TBX15	WNT9B	ATRX	COMT	RMRP	GNRH1	FUT8	COX7B	WDR26	IL17RD	HUWE1	ZSWIM6	SET	RLIM	PIGP	PRKG1	ZPR1	CDK19	SOS1	SHANK3	SDHC	TRMU	MAP3K20	H19	TXNDC15	CTNND2	EXOC6B	RPS26	ECM1	HOXA2	ARID1B	SIK3	SLC39A13	KDM1A	KISS1	AK9	FAM50A	MYL11	RPL27	TRIM8	TRIP12	VAMP1	AIFM1	IQSEC2	LMX1B	DYRK1A	FANCD2	BRAT1	DDX6	GEMIN4	COL9A3	PUS7	POMGNT1	ZNF469	BLTP1	TAC3	TFE3	SIAH1	NELFA	MAF	EXOSC9	SLC17A5	KCNA1	CSPP1	ESCO2	JUP	FKBP14	ESS2	SLC12A6	CEP57	ASPH	NIPBL	USF3	NR2F1	YWHAE	PCDHGC4	H4C5	PRUNE1	SOS2	TOGARAM1	ARL6	METTL23	GDF11	SMC3	EIF2AK3	SF3B2	HERC1	INTS1	RASA2	LGI4	ERCC2	SLX4	POLR2A	HPGD	NEDD4L	MYH11	COPB1	ITGA8	RPL35	PGM1	DIS3L2	CUL3	ALG9	KLLN	HOXD13	RAD51	CA2	UFD1	CTNNB1	ARID2	PNKP
HP_ABNORMAL_UPPER_LIP_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_UPPER_LIP_MORPHOLOGY	AMPD2	PROKR2	ZIC2	SEMA3E	VPS37D	TMCO1	BMP1	CTCF	HS2ST1	IFT43	PLCH1	PDHA1	GPC4	TGIF1	LTBP4	GNE	ZNF699	HYLS1	PURA	PIGY	KCNJ6	SMARCB1	NODAL	ADAMTS3	FRAS1	EHMT1	GNPTAB	FAR1	AP3D1	FZD2	BRCC3	DPYSL5	SPATA5L1	MEGF8	SIX3	CTNND1	SPOP	NSD2	EDEM3	VPS51	CYP26C1	COX7B	TCTN3	GP1BB	MED13	DISP1	WDR26	MYH8	DYNC2H1	ATP6V1E1	SLC25A46	TAPT1	TAF8	CHSY1	ZEB2	ANKRD11	WAC	CCDC8	DYRK1A	DLL1	OBSL1	PQBP1	UNC80	LARP7	PTPRF	TAF1	RPGRIP1L	ARID1B	HOXB1	ZNF407	FGF20	KCNJ2	TRAPPC14	ZBTB18	DSE	TP63	AP2M1	ANKLE2	HK1	PTH1R	TWIST2	CREBBP	NRCAM	POLR3A	TNNI2	SATB2	H3-3B	LMNB1	DHODH	DVL1	HSD17B4	TRPS1	PIGN	WARS2	KAT6B	SUMO1	RIN2	KIF11	STAG2	MSX1	PPP2R5D	MKS1	TCF20	APC	CLTC	FKBP6	FLII	NCAPG2	KATNB1	FGFR1	TUBGCP2	KMT2A	HSPG2	KDM5C	ARID1A	GLI2	COG1	BAP1	TRIO	ZNF526	KLHL41	BRPF1	CHD8	ATN1	CHD7	EBF3	FGF8	KIF1A	RAI1	NEK9	EIF2S3	IRF6	GNB1	BCAS3	CDON	POU4F1	LTBP3	CLP1	MPC1	MINPP1	MOCS1	SUPT16H	CDH2	COLEC11	MAP1B	USB1	SPEN	TRRAP	EXT2	PPP1CB	IL1RAPL1	SLC1A3	DPM2	RAD21	PCGF2	LETM1	EXOSC2	DLL3	SNORD115-1	PIGB	CAMTA1	MAF	ABCC9	CUL4B	ERMARD	EZH2	COL2A1	IREB2	DHX30	GABRD	CHD2	RET	STXBP1	EDA2R	LAS1L	ADNP	NBAS	GALNT2	RIPK4	NBN	IGF1R	UBR7	MEIS2	CHAMP1	POLR1D	TCOF1	PAFAH1B1	ALG11	CTNNB1	FOXG1	SYT1	TCF4	UBE3B	HIC1	CBL	EFTUD2	NOTCH3	ACTB	MADD	WNT5A	RSPO2	CDH1	MEG3	CDH11	TTC5	B3GALT6	TGDS	GPC3	ADAMTSL1	PAH	SRCAP	TBCE	PRMT7	TNPO2	WDR37	TBX1	SLC6A17	PREPL	VPS13B	MAPK8IP3	MCPH1	TRMT10A	COG7	VAC14	POLR3GL	ASXL1	BAZ1B	PRKACA	DVL3	SLC35A2	ZMIZ1	SEC24C	OTX2	NOTCH2	EP300	MICU1	STRADA	PIEZO2	KCNJ11	CASK	FLI1	PIGG	SON	FOXH1	PGAP3	SPECC1L	EIF4H	H4C11	CKAP2L	MFSD2A	FKTN	SMC1A	SHH	MCTP2	MAPRE2	C12orf57	TMEM53	PUS1	NXN	GJA8	PIGO	PAM16	METTL5	DCPS	SOX11	ZNF462	TCF3	LRRC32	KCNH1	AP4E1	NFIA	PRDX1	MASP1	RUNX2	MAGEL2	AFF2	HRAS	WASHC4	FLCN	MED25	CEP63	SYNE1	CCNQ	SYNGAP1	SIM1	TRAPPC9	ATIC	NRAS	PHIP	ATP7A	CNOT3	ESCO2	VPS35L	BRD4	PPM1D	ERCC6	NEK1	KAT5	STIL	WDR4	KCNK4	MMACHC	SNRPN	SHOC2	TRIP11	QRICH1	NF1	MKRN3	NSD1	SUFU	KCNJ5	POLR1C	MAP3K7	TRAPPC10	CSF1R	AVP	BCOR	CTBP1	AMMECR1	METTL27	MBD5	SATB1	FBN1	AP4B1	FGF3	WNT4	INPPL1	PHF21A	GREB1L	FGFRL1	SMOC1	H4C3	EDA	MYOD1	PAK3	SHMT2	OSTM1	BCL11B	ARX	IFT80	SMPD4	GLIS3	XYLT2	CPLX1	FOXC2	DDX3X	MSX2	PMM2	LEMD2	SNX14	GRIA3	AP3B1	OTUD6B	MAP2K2	TBC1D20	SNAI2	CHMP1A	GRHL3	BCL7B	LMBRD1	STEEP1	IFT81	SEC23A	PPP1R21	NCF1	MYH3	SUZ12	CRKL	RPL10	RAB3GAP2	PPP1R15B	RERE	DLX4	SLC45A1	PIGV	SIN3A	KIDINS220	SMAD4	COL11A1	CC2D2A	MED27	KDM1A	TGFB3	SMARCC2	OPHN1	NECTIN1	MUSK	HDAC8	COPB2	OGT	MED12	KIF7	IFIH1	GPC6	TUBB	SMG8	MLXIPL	RNU4ATAC	TAOK1	ABCC8	PTCH1	TOE1	BPTF	DEAF1	MARS2	HERC2	UGP2	CRTAP	PHGDH	MOCS2	MAPK1	CHD5	AGL	ARSK	OCA2	WDR19	ROR2	SLC26A2	HNRNPK	TBC1D24	ADSL	ATRX	AARS1	PLAA	PTRH2	B4GALT1	NOVA2	RYR1	PDCD6IP	FAM20C	NLRP1	ODC1	ACER3	HIRA	PPP2CA	RPS19	SLC29A3	KIT	GLI3	OFD1	TFAP2B	EDAR	PRKCZ	SETBP1	CACNA1C	BRAF	ANO1	PROP1	CAMK2G	SETD5	TAF6	ALDH6A1	POMT2	SOX4	MYO18B	NOG	NSRP1	BRCA1	DLK1	H3-3A	PPP2R1A	DNMT3A	ARVCF	PUF60	SF3B4	ALG9	FGD1	SLC35C1	KCNJ8	TDGF1	DCHS1	BUD23	NFIX	NUP107	CRLF1	SMO	ACTA1	PGAP2	CERT1	NEXMIF	SLC25A24	CDC6	DPM1	MEF2C	PARS2	SH3PXD2B	RAB3GAP1	PPP1R12A	KDF1	GJA5	TBL1XR1	CHST14	UBE2A	DMPK	CACNA1A	UBE4B	GAS1	ALG8	MESD	PIGW	PYCR1	KCNMA1	HPDL	ANKRD17	ATP6V0A2	DHPS	PPP2R3C	EPB41L1	NAA10	TBCK	DPF2	POR	WDR35	COL3A1	PIGU	SSR4	ALX3	USP9X	HESX1	RNF2	DDX59	EMC1	ORC4	JMJD1C	RIPPLY2	B3GAT3	GAD1	MAP2K1	AP4S1	ALX4	EFNB1	AP1S2	POU1F1	FGFR2	SMS	NONO	PORCN	GFRA1	CSNK2B	SC5D	PCLO	CHRNG	MECP2	IARS2	AASS	CUL7	SASS6	HES7	KIAA0753	HNRNPU	UGDH	MYL2	RTL1	CASZ1	PHC1	ADGRG6	IDH1	DYNC2I1	CANT1	FBXO28	KRAS	SMARCE1	EXTL3	DPYD	PIGK	PIGL	IFT140	ATP6V1A	TRIM8	DHCR7	PEX26	RSPRY1	SMARCA4	TRAPPC4	KIF14	PHF8	TET3	EXT1	GJA1	RREB1	NALCN	KAT6A	NKAP	BMP2	EXOC7	TSPAN7	KDM5B	DIS3L2	SCN1A	FREM2	YARS2	MED12L	CHUK	ALG12	ZDHHC9	YAP1	ASXL2	MTX2	NARS2	NSUN2	PSMD12	AP1G1	YY1	RALA	AGO2	PRDM16	GMPPA	PACS1	MAN1B1	ASXL3	PAX3	SKIC3	RPL5	PDPN	CENPJ	CDC42	SETD1A	GATAD2B	PDE4D	SLC2A10	ATP6V1B2	CLIP2	VAX1	EVC2	FIG4	PRKDC	KANSL1	NCAPD3	ZC4H2	PTEN	MESP2	ACTG1	ZNHIT3	SMARCD1	MID1	NUAK2	CIT	ZNF148	TAF13	SOX9	PRKAR1B	CCNK	CDKL5	SLC9A7	KDM4B	TMEM147	CSGALNACT1	SPTBN1	TFAP2A	FREM1	COL11A2	JUP	NAA20	CNOT1	PWRN1	RTTN	GNB2	CYFIP2	PWAR1	COLEC10	ARHGEF2	POGZ	SPRED2	MEOX1	CNOT2	TASP1	EXOC2	RAPSN	KCNK9	CDK10	CDK6	DDB1	LTBP1	CHST3	ADARB1	B3GLCT	NFIB	WNT9B	CLCN3	PIGT	CDK13	CCDC22	MMP23B	CDK5RAP2	FLNA	PRKACB	COMT	PDGFRB	ATP1A2	AFF4	ELN	ERCC1	KIFBP	FLNB	CLCF1	RPS7	PBX1	RAB5IF	ASPM	IFT57	NEB	RIC1	ERLIN2	TPM3	XYLT1	HUWE1	ZSWIM6	TENM3	CEP135	EXOSC1	LFNG	TLK2	OCRL	SMARCA2	ZPR1	AUTS2	PLPBP	THOC6	LARGE1	SNRPB	CDK19	CILK1	FOXA2	KDM3B	AMER1	ANTXR1	SHANK3	PPP3CA	EIF5A	ITCH	AFF3	MYMX	HIVEP2	HDAC6	EXOC6B	CCBE1	MCM7	PYCR2	TNRC6B	RHOBTB2	FAT4	RAB18	SKI	WNT3	MTOR	THUMPD1	ATP1A3	SUMF1	GTF2IRD1	OCLN	H4C9	TCTN2	CLCN6	POC1A	TMEM94	PIGQ	TMEM70	MRPS28	EEF1A2	MAB21L2	BCL11A	TRIP12	MYMK	KNL1	FBXO11	IQSEC2	BRF1	MGP	LMX1B	RAB11B	LHX4	LUZP1	ARHGAP31	ATG7	GLB1	TXNL4A	CD96	RFC2	BRAT1	DDX6	TBL2	PACS2	POMT1	PUS7	DOCK7	GTF2I	TAB2	DYNC2I2	KCNAB2	WDR62	RNF135	MID2	NELFA	EPG5	EVC	ADAMTSL2	STX1A	CSNK2A1	SLC2A1	DNAJC30	NPAP1	PTCH2	ZNF292	CDC42BPB	PITX2	BCR	NIPBL	IER3IP1	EDARADD	FKRP	DENND5A	PCDHGC4	KARS1	H4C5	SNORD116-1	ALG13	UPF3B	RAC3	AP4M1	TOR1A	METTL23	GDF11	SMC3	PRIM1	SF3B2	ASH1L	LRP4	KIF15	POLR1B	IL6ST	EED	INTS1	HNRNPH2	IRX5	TWIST1	CPLANE1	PKDCC	ARID2	FOXL2	STT3A	DYNC2LI1	PIK3CA	GRIP1	TMEM237	INTU	GTF2IRD2	LIMK1	MSL3	DHX37	CEP152	TMEM270	YWHAE	WLS	ITGA8	CLIC2	SLC35A1	NSDHL	TBR1	MAB21L1	PIGS	NDN	PSMC3	GNAI1	HOXD13	SLC6A1	GBA1	UFD1	BUB1B	TALDO1
HP_ABNORMAL_LOWER_LIP_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LOWER_LIP_MORPHOLOGY	MECP2	MGAT2	KAT5	CYP4F22	VPS37D	IFT122	FBXL4	CUL4B	CUL7	HS2ST1	SHOC2	HECW2	ZBTB20	UGDH	TGM1	RBMX	AFF3	QRICH1	CDKL5	EDNRA	NANS	FGD1	PITX2	SMARCB1	ASXL3	CBL	SMARCE1	SALL4	EHMT1	FLNA	RRAS2	METTL27	ECM1	PIGL	MBD5	ELN	SMG9	FBN1	ABCA12	ARID1B	GLA	AIP	CDT1	SMARCA4	KCNN3	PTPN11	TBL1XR1	GTF2IRD1	EDA	ALOX12B	ZEB2	GNS	YY1	RPS6KA3	IRF6	CAMTA1	MED12	CCDC8	DYRK1A	WDR35	RRAS	MRAS	OBSL1	BMP2	EDARADD	RIT1	SRD5A3	SCN1A	HSPG2	AP2M1	MED12L	PTH1R	PPP1CB	EEF1A2	BCL7B	MLXIPL	NEXMIF	BCL11A	ERCC5	KMT2C	SPECC1L	IDS	NCF1	CHN1	FBXO11	PSMB8	NAGA	KIF11	KNSTRN	SIN3A	PIK3CD	C12orf57	FKBP6	HDAC4	HRAS	WDR19	COL11A1	RFC2	IFT43	SULT2B1	TBL2	ARID1A	NEU1	SMARCC2	KRAS	PUS7	ADAMTS2	GTF2I	EBF3	FHL1	KCNH1	MCOLN1	AGA	MED13L	BCAS3	TFE3	POU4F1	DEAF1	ATP6V1B2	CLIP2	RAB3GAP2	PIGN	PHGDH	KANSL1	TFAP2A	RNF135	HGSNAT	MAFB	SMARCD1	DPF2	SDR9C7	SETD1B	LIPN	ALOXE3	CDH11	STX1A	SLC2A1	LTBP3	DNAJC30	TBC1D24	MYCN	ATRX	TMEM147	DHX30	SNRPN	CHD2	POMGNT1	ERCC2	STRADA	EDA2R	NRAS	ADNP	ACER3	BDNF	PCDHGC4	CHAMP1	INSR	DOCK7	TFAP2B	EDAR	FUCA1	FOXG1	SOX11	FRMD4A	SOX4	MYO18B	FOXC1	SOS2	H3-3A	TASP1	SMARCA2	IFT52	SMS	RPL10	SCARF2	RAF1	REV3L	SPRED2	LTBP1	ERCC6	KIF15	BUD23	SRCAP	ANTXR1	TNPO2	CYP24A1	IDUA	PLXND1	RASA2	SLC25A24	NIPAL4	IRX5	BAZ1B	ABHD5	FTSJ1	RAB3GAP1	ARID2	KIFBP	LZTR1	RPS23	GRHL3	GJA5	KDM6A	EIF4H	TTC26	ABCC9	GTF2IRD2	HUWE1	KCNMA1	LIMK1	ERCC1	TMEM53	GJA8	TMEM270	OCRL	MDH1	RET	CLIC2	PAX6	MSX1	MED25	THOC6	GNAI1	GPR101	ZSWIM6	SYNGAP1	SOS1	AMER1	IGF1R	NFIX	SLC6A1	ASPRV1	CA2	GBA1	WT1
HP_THICK_LOWER_LIP_VERMILION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICK_LOWER_LIP_VERMILION	DNAJC30	TBC1D24	KAT5	VPS37D	ATRX	TMEM147	CUL4B	CUL7	CAMTA1	SHOC2	HECW2	ZBTB20	UGDH	RBMX	AFF3	CDKL5	CHD2	STRADA	NRAS	ADNP	ACER3	NANS	SMARCB1	INSR	CBL	SMARCE1	FUCA1	FLNA	RRAS2	METTL27	ECM1	PIGL	SOX4	ELN	SMG9	FBN1	SOS2	ARID1B	TASP1	GLA	AIP	CDT1	SMARCA4	SMS	KCNN3	RAF1	PTPN11	CDH11	SPRED2	GTF2IRD1	ZEB2	LTBP1	GNS	YY1	MED12	DYRK1A	KIF15	RRAS	MRAS	BUD23	RPS6KA3	ANTXR1	RIT1	CYP24A1	SRD5A3	RASA2	SCN1A	BAZ1B	AP2M1	PTH1R	FTSJ1	PPP1CB	ARID2	BCL7B	MLXIPL	NEXMIF	LZTR1	KMT2C	RPS23	GJA5	IDS	NCF1	PSMB8	EIF4H	NAGA	ABCC9	KIF11	FRMD4A	GTF2IRD2	HUWE1	LIMK1	SIN3A	C12orf57	TMEM53	FKBP6	HDAC4	DPF2	GJA8	HRAS	COL11A1	RFC2	SOX11	TBL2	TMEM270	ARID1A	NEU1	SMARCC2	KRAS	SMARCA2	PUS7	RET	GTF2I	EBF3	AGA	POU4F1	DEAF1	ATP6V1B2	GNAI1	CLIP2	GPR101	EHMT1	PHGDH	SYNGAP1	RNF135	SOS1	AMER1	SLC6A1	SMARCD1	CA2	SETD1B	STX1A	SLC2A1	LTBP3
HP_LOBULATED_TONGUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOBULATED_TONGUE	OFD1	CPLANE1	FAM149B1	KIF7	TOPORS	MKS1	C2CD3	CEP120	TMEM216	SCNM1	TCTN3	TMEM231	MEF2C	DDX59	KIAA0753	PDE6D
HP_MOVEMENT_ABNORMALITY_OF_THE_TONGUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOVEMENT_ABNORMALITY_OF_THE_TONGUE	GNAI3	EDN1	SBF2	MTPAP	FRAS1	ALS2	ATP13A2	GAA	SH3TC2	TUBB4A	GIPC1	PLCB4	NOTCH2NLC
HP_DIFFICULTY_IN_TONGUE_MOVEMENTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFICULTY_IN_TONGUE_MOVEMENTS	GNAI3	EDN1	SBF2	ALS2	GIPC1	PLCB4	NOTCH2NLC	FRAS1	ATP13A2	GAA	SH3TC2
HP_CLEFT_SOFT_PALATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLEFT_SOFT_PALATE	HYAL1	NEK1	ZIC2	STIL	COL2A1	HAAO	PLCH1	BGN	FGFR2	TP63	GRHL3	TGIF1	RTL1	FLNA	DDX59	IPO8	RPS26	PIGY	BMP4	RNU4ATAC	NODAL	ORC1	TTN	CRPPA	PTCH1	TGFBR1	RPS24	AMMECR1	PIGV	GATA1	IFT140	FKRP	PGAP1	CDT1	TDGF1	SIX3	SIX1	ORC6	RPS27	TCTN3	GLI3	ADA2	SLC39A13	KCNN3	RPS28	ZEB2	TGFBR2	SHMT2	IRF6	B4GALT7	TMEM231	POMK	DLL1	ALG3	COL11A2	SMPD4	FOXH1	CHD4	RPL15	DDX3X	DAG1	GAS1	FGF8	MYL11	RPL11	ORC4	SHH	BIN1	RPS29	POLR3A	CDC6	POMT1	SATB2	SMAD3	RPL27	RPL35A	KMT2C	B9D2	PIEZO2	FGFR3	DHCR7	FBXO11	POMT2	TCOF1	FGF10	COL11A1	TGFB2	HYLS1	DYRK1A	TXNL4A	LARGE1	RPS10	HNRNPK	RECQL4	KAT6B	SKIC3	SMAD4	RPL5	IGBP1	TGFB3	POMGNT1	CDH11	DISP1	DLK1	MED12	KIF7	COL4A1	SMARCD1	CDON	GLI2	POMGNT2	SIAH1	SUPT16H	GMNN	RPL18	DHCR24	EYA1	RPL31	SEC23A	RXYLT1	PPP1CB	FTO	STAC3	FKBP14	FGFR1	UBB	DLG3	ASPH	SNRPN	GNAI3	GNB2	RPL26	H4C5	STAG2	EIF4A3	ATP6V1B2	SETD5	MEG3	KCNH1	B3GALNT2	KCNK9	TSR2	METTL23	KIF14	SPEG	EDN1	RPS19	TBCE	TBX1	PGAP2	SELENOI	SMCHD1	RPS15A	FKTN	RPS20	POLA1	RPS23	SON	GJA5	B4GAT1	DVL1	BCOR	RYR1	XYLT1	PIGW	CDC45	MAP3K7	RPS17	PGAP3	SMC1A	MSX2	PLCB4	SCNM1	TBX22	GJA8	PIGO	USP9X	RPL35	ZPR1	PGM1	PTDSS1	SNRPB	CUL3	ALG9	POGZ	RPS7	SLC25A19	AMER1	SMS	NONO	PIGL
HP_BROAD_ALVEOLAR_RIDGES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_ALVEOLAR_RIDGES	OFD1	DIS3L2	ATP6V1B2	TBC1D24	RERE	SH3PXD2B	FIG4	GJA1	ZC4H2	SETBP1	VAC14	ASXL1	GNS	DHCR7	ARX
HP_SHORT_UPPER_LIP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_UPPER_LIP	AMPD2	EMC1	LETM1	CPLX1	FIG4	ATRX	FGFRL1	GRIA3	CTBP1	NSD2	VAC14	TWIST2
HP_NARROW_PALATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_PALATE	PCLO	IFT122	APC2	WNT7A	IL11RA	FGFR2	FOXE3	HECW2	COL3A1	GPC4	FBN1	CPT2	EP300	RAB18	IPO8	ASXL3	ORC1	PTPN11	TGFB2	FLNA	RECQL4	PLOD1	DVL3	FZD2	CDT1	DPYSL5	SMG9	MEGF8	ACTA2	ORC6	TCTN3	WNT5A	MAT2A	SLC25A46	AFF4	SPRED1	MED12	SKI	PEX1	TAF1	FGFR3	GTF2H5	GRIA3	DPM1	ORC4	ADAMTS10	MED12L	CREBBP	CDC6	RARS2	DVL1	VPS13B	LOX	RPS6KA3	COL12A1	CRKL	TWIST1	MPLKIP	TGFBR1	BCOR	COL11A1	KCNJ6	NDUFAF6	RUNX2	HNRNPK	GTF2E2	MYMX	TRPS1	HEY2	HRAS	KLHL41	MUSK	SMAD2	ATN1	CNTN1	SOX5	MAP3K7	NEK9	TAOK1	SLC25A12	CCBE1	ATP6V1B2	GMNN	KANSL1	MAPK1	SPEN	PTEN	TGFBR2	UBE3B	FGFR1	TBC1D24	ERF	ERCC3	TBX2	SPTBN1	ERMARD	BCR	NOTCH2NLC	NIPBL	FIG4	BMPR1A	MYLK	PCDHGC4	NAA10	HERC2	H4C5	ABCC6	AEBP1	SPRED2	MARS1	PRUNE1	BRCA1	ARL6	POR	TARS1	NOTCH3	SMARCA2	CDK10	MADD	WASHC5	GRB10	GIPC1	SCARF2	SLC35C1	GPC3	LRP4	CARS1	SETBP1	ANTXR1	ACTA1	TBX1	SLC6A17	CTSK	SLC25A24	SMAD4	VAC14	ASXL1	CCDC28B	MAP2K1	CCDC22	TGFB3	CHD3	GNE	ERCC2	PEX5	RNF113A	NSD1	ELMO2	INTU	TPM3	MESD	PIGT	CDC45	MFAP5	SH3BP2	SCNM1	MYH11	OCRL	COPB1	TECR	KCNK9	DDX59	PRKG1	BRAF	RET	SIN3A	NONO	FOXP2	PIEZO2	MED25	DIS3L2	PTDSS1	MCM3AP	APC	BBS1	NEB	SMS	ELN	TBCK	AMER1	ARID2	ATP7A	SMAD3
HP_ABNORMAL_ORAL_FRENULUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ORAL_FRENULUM_MORPHOLOGY	CPLANE1	TBC1D24	NEK1	RIPK4	TOPORS	DYNC2LI1	DVL1	OFD1	CDC42BPB	SPTBN1	IFT57	KIAA0753	COL7A1	FREM1	MMP1	KIF7	COL3A1	BCR	AFF3	CRKL	DDX59	EVC2	TELO2	H4C5	FAM111A	EFTUD2	TMEM216	SCNM1	TBX22	NXN	CD96	SETD5	TCTN3	IFT140	EVC	POU4F1	C2CD3	FLNA	SMARCA2	PRR12	GLI3	WNT5A	RSPO2	TBR1	GLI1	ZMPSTE24	FAM149B1	ATP6V1B2	SETBP1	B3GLCT	SLC37A4	CDK13	MAPK1	WDR35	PRKACB	MID1	ROR2	LMNA	PRKACA	CHUK	PDE6D
HP_ACCESSORY_ORAL_FRENULUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACCESSORY_ORAL_FRENULUM	OFD1	CPLANE1	DDX59	DYNC2LI1	GLI3	FLNA	EFTUD2	CD96	IFT57	SCNM1	PRKACB	TCTN3	IFT140	C2CD3	CHUK	PRKACA
HP_BIFID_UVULA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIFID_UVULA	HYAL1	ZIC2	STIL	COL2A1	HAAO	PLCH1	BGN	FGFR2	TP63	TGIF1	RTL1	FLNA	DDX59	IPO8	PIGY	BMP4	RNU4ATAC	NODAL	ORC1	TTN	CRPPA	PTCH1	TGFBR1	AMMECR1	PIGV	IFT140	FKRP	PGAP1	CDT1	TDGF1	SIX3	SIX1	ORC6	TCTN3	GLI3	SLC39A13	KCNN3	ZEB2	TGFBR2	SHMT2	IRF6	B4GALT7	TMEM231	POMK	DLL1	ALG3	COL11A2	SMPD4	FOXH1	CHD4	DDX3X	DAG1	GAS1	FGF8	MYL11	ORC4	SHH	BIN1	CDC6	POMT1	SATB2	SMAD3	KMT2C	B9D2	PIEZO2	FGFR3	DHCR7	FBXO11	POMT2	FGF10	COL11A1	TGFB2	HYLS1	TXNL4A	LARGE1	HNRNPK	RECQL4	KAT6B	SKIC3	SMAD4	RPL5	IGBP1	TGFB3	POMGNT1	CDH11	DISP1	DLK1	KIF7	COL4A1	SMARCD1	CDON	GLI2	POMGNT2	SIAH1	SUPT16H	GMNN	DHCR24	EYA1	SEC23A	RXYLT1	PPP1CB	FTO	STAC3	FGFR1	UBB	DLG3	ASPH	SNRPN	GNAI3	STAG2	EIF4A3	GRHL3	ATP6V1B2	SETD5	MEG3	KCNH1	B3GALNT2	KCNK9	METTL23	KIF14	SPEG	EDN1	TBCE	TBX1	PGAP2	SELENOI	SMCHD1	FKTN	POLA1	RPS23	SON	GJA5	B4GAT1	BCOR	RYR1	XYLT1	PIGW	CDC45	MAP3K7	PGAP3	SMC1A	PLCB4	TBX22	GJA8	PIGO	USP9X	PGM1	PTDSS1	CUL3	ALG9	POGZ	RPS28	AMER1	SMS	PIGL
HP_OPEN_MOUTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPEN_MOUTH	HNRNPK	TBC1D24	PDZD8	MEF2C	MGAT2	ESS2	DGCR2	NGLY1	POLRMT	DEAF1	KIF7	DHX30	SNRPN	SOX5	STRADA	DENND5A	KCNJ6	CACNA1I	ASXL3	CHAMP1	H4C5	EXTL3	DPYD	SOX11	MBD5	POGZ	PPP2R1A	ELN	ADAM22	TCF4	H3-3A	MTOR	RAC1	INPP5E	DGCR8	REV3L	TET3	SLC6A8	ZEB2	PAK3	ASH1L	NKAP	SETBP1	AKT1	DGCR6	ATRX	PURA	PIGT	POMT2	NFIX	PLXND1	VPS13B	GRIA3	NEXMIF	DIS3L2	HOXB1	CCDC174	ECEL1	MED12L	PARS2	GFM2	SLC35A2	RPS23	RPS6KA3	DST	PIGN	PRKAR1A	TMEM237	LAMA2	KANSL1	PDE4D	IQSEC2	AGO2	TBX1	TCF20	PIGF	CLTC	MED13L	FLII	TUBB4A	DLK1	MED12	PPP2R5D	UNC80	RTL1	OCRL	AHI1	FAM149B1	KCNK9	PUS7	CHD8	ATN1	OGT	FOXP1	SIN3A	KCNH1	BRAF	KIF1A	NONO	AP1S2	RAI1	MAGEL2	MLXIPL	CCDC88A	EIF2S3	BCAS3	TFE3	HRAS	ZNHIT3	ATP6V1B2	MEG3	ZSWIM6	SLC9A6	CSNK2B	GBA1	NRAS	ANKLE2	IL1RAPL1
HP_ABNORMAL_PAROTID_GLAND_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PAROTID_GLAND_MORPHOLOGY	BTNL2	TCOF1	CXCR4	TP63	ATP2A2	FGFR2	HLA-DRB1	PSMB8
HP_TONGUE_NODULES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TONGUE_NODULES	OFD1	CPLANE1	PRKAR1A	FAM149B1	KIF7	NEK1	TOPORS	RBM10	TMEM216	PDE11A	SCNM1	ECM1	TCTN3	PDE6D	KIAA0753
HP_SHORT_LINGUAL_FRENULUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_LINGUAL_FRENULUM	ZMPSTE24	ATP6V1B2	TBC1D24	SMARCA2	B3GLCT	DVL1	CDK13	WDR35	WNT5A	KIAA0753	FREM1	LMNA
HP_PIERRE_ROBIN_SEQUENCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PIERRE_ROBIN_SEQUENCE	FLNA	COG1	SLC10A7	SATB2	ESS2	COL2A1	DGCR2	KCNK4	MYMK	DGCR8	COL11A1	GRB10	COL11A2	PGM1	MYMX	YY1	KIF15	TBX1	PIGA	BMP2	SCUBE3	DGCR6	ANKRD17	EIF4A3	AMER1	RBM10	MAP3K7
HP_ORAL_CLEFT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORAL_CLEFT	CEP290	PROKR2	MKKS	PAX9	GABRA3	ZIC2	SEMA3E	MECOM	TMCO1	CTCF	HS2ST1	PLCH1	CPLANE1	ALX1	ARHGAP29	RPGRIP1	GPC4	TGIF1	HYLS1	B9D2	MEOX1	PIGY	BMP4	RNU4ATAC	NODAL	FRAS1	PTPN11	SALL4	FKRP	PGAP1	FZD2	CDT1	SIX3	CTNND1	NSD2	EDEM3	SIX1	CYP26C1	TSR2	TCTN3	GP1BB	ADA2	DISP1	SLC26A2	DYNC2H1	SMARCA2	KCNN3	TAPT1	RPS28	CHSY1	ZEB2	ANKRD11	TGFBR2	B4GALT7	CCDC141	PDGFRA	SEPTIN9	TMEM237	DLL1	SPOP	RBM10	STAMBP	CSPP1	DAG1	RPGRIP1L	LARS2	FGF20	KCNJ2	PALB2	DSE	TP63	TUBA1A	RPS29	CREBBP	POLR3A	CDC6	TOPORS	SATB2	BRCA2	DHODH	DVL1	SMCHD1	RPL35A	TRIP13	CHN1	DUSP6	PIGN	WNT4	FGFR3	RPL26	TMEM218	TBX22	FGF10	SUMO1	SHH	STAG2	MSX1	PIGQ	SCUBE3	PPP2R5D	BPNT2	FLII	AXIN2	FGFR1	LBR	RUNX2	LARGE1	SOX3	IGBP1	GLI2	MKS1	PQBP1	MAD2L2	ATN1	NDNF	CHD7	FGF8	COL4A1	SPRY4	RAI1	COL11A2	EIF2S3	IRF6	GNB1	CDON	SUFU	POMGNT2	GNRHR	BRIP1	SUPT16H	COLEC11	FGF9	DHCR24	TRRAP	MAFB	SIK1	EYA1	PPP1CB	FTO	STAC3	RAD21	GNA11	LETM1	DLL3	DLG3	FOXF1	COL2A1	KDM6A	RET	POLR1C	RIPK4	NBN	GRM7	MEIS2	POLR1D	HNRNPK	TCOF1	GRHL3	INTU	KMT2D	ATP6V1B2	EFTUD2	WNT5A	RSPO2	ALX3	KIAA0586	CDH1	CDH11	B3GALT6	TGDS	GPC3	ERCC5	RB1	CDKL5	KIF15	CCDC32	WNT3	SPEG	TBCE	TBX1	COL11A1	WDR35	PLXND1	GATA3	POLR1B	ASXL1	RPS15A	CCDC22	DVL3	DOK7	SEC24C	RPS23	OTX2	NOTCH2	PHF6	FEZF1	SON	FOXH1	PGAP3	SPECC1L	EDN1	FKTN	TCTN2	MCTP2	SOX6	MAPRE2	FLNA	NXN	GJA8	PIGO	LRRC32	CARS1	IGF2	PRR12	NSMF	MASP1	SOX9	SMARCB1	PTDSS1	MED25	SLC35D1	WNT10A	TRPV4	BUB1	AMER1	WDR11	FANCC	ESCO2	IKBKG	BRD4	HYAL1	NEK1	KATNIP	KAT5	STIL	FGFR2	PRDM5	BGN	EDNRA	WNT10B	NAA10	MEGF10	HMGA2	KIFBP	GLI3	MYMK	BCOR	CRPPA	SEMA3A	DCC	CTBP1	AMMECR1	GATA1	INPP5E	STAG1	FOXE1	DPH1	ARMC9	ORC6	GREB1L	FGFRL1	IPO8	SMOC1	H4C3	SLC25A22	MYOD1	G6PC3	BUB1B	SHMT2	TMEM231	COL9A1	IFT80	SMPD4	GNAO1	CHD4	CPLX1	FOXC2	GDF6	DGCR6	FANCL	DDX3X	MSX2	MAP2K2	VANGL1	SMAD3	FAM20C	PEX7	NUP88	CRKL	RERE	DLX4	SMC1A	PIGV	ARX	ALX4	TMEM216	SMAD4	ACTB	ARCN1	CC2D2A	RECQL4	KAT6B	TGFB3	NECTIN1	MUSK	HDAC8	IFT172	MED12	KIF7	FANCI	TUBB	BMPER	PIGG	FLRT3	B9D1	PTCH1	GMNN	PHGDH	GDF3	BICRA	MAPK1	RPL18	TMEM67	XRCC2	RPL31	KLHL41	MYH3	GJB2	TBC1D24	SLC10A7	NSUN2	TBX2	SH2B1	DGCR2	SCN1B	TBX6	SIX5	SNRPN	GNAI3	PERCC1	HIRA	RPS19	SLC29A3	DLX5	EIF4A3	OFD1	BRAF	PROP1	TOGARAM1	SETD5	POMT2	MEG3	KCNH1	LMBRD1	B3GALNT2	TWIST1	SOX2	CEP152	WASHC5	EMG1	ARVCF	PUF60	SF3B4	ORC1	FGD1	COG1	KIF14	FANCF	TDGF1	NUP107	PITX1	SMO	PGAP2	SELENOI	CEP104	GMPPB	NUP188	NPHP1	MAP2K1	RPS20	AHI1	CDKN1C	GJA5	CHST14	FANCM	GAS1	PIGW	ANKRD17	RPS17	DEF6	ACTG2	KISS1R	USP9X	HESX1	DDX59	SOX10	NEUROD2	JMJD1C	RIPPLY2	B3GAT3	FANCE	FOXP2	GAD1	FANCG	RAPSN	EFNB1	FAM149B1	POU1F1	SLC25A19	SMS	NONO	PORCN	SNRPB	GFRA1	WBP11	MAP3K7	PDZD8	CHRNG	FGF17	FANCB	HSPG2	HAAO	HES7	UBE2T	DEAF1	RTL1	KIAA0753	LEMD3	PPP3CA	DYNC2I1	KRAS	RPS24	PIGL	IFT140	DHCR7	RPS27	CBY1	PHF8	LIG4	ZMPSTE24	GJA1	RREB1	KAT6A	POMK	ALG3	SCN2A	EPCAM	PIEZO2	HS6ST1	TCTN1	ORC4	FREM2	CHUK	BIN1	VANGL2	POMT1	YAP1	KMT2C	LOXL3	EARS2	TGFB2	C2CD3	ARNT2	DMXL2	RAD51C	TBX4	PAX3	SKIC3	RPL5	ARID1A	CEP41	FANCA	ANOS1	ATR	AR	SMARCD1	PRRX1	SLC2A10	VAX1	EVC2	KANSL1	CEP120	MESP2	TGFA	RFWD3	ACTG1	MID1	NUAK2	ROR2	MT-CYB	RXYLT1	HCCS	PDE6D	PRKAR1B	BUB3	UBB	TFAP2A	JUP	GNB2	CDC45	COLEC10	BRCA1	KCNK9	DGCR8	DONSON	SCARF2	CENPF	REV3L	TBX15	B3GLCT	WNT9B	FLNB	POLR1A	COMT	COL9A2	GNRH1	POLA1	FUZ	PSAT1	EP300	B4GAT1	RAB5IF	IFT57	NEB	RIC1	STAT3	PROK2	CASK	COX7B	WDR26	XYLT1	IL17RD	ERCC4	ZSWIM6	NFASC	SET	LFNG	EDA	PIGP	EDARADD	ZPR1	TRAPPC9	CILK1	POGZ	FOXA2	RPS7	DLG1	TGFBR1	EIF5A	WNT7A	MYMX	TXNDC15	LMNA	EXOC6B	RPS26	TTN	RNU12	TMEM107	SMG9	PIBF1	HOXA2	ARID1B	SLC39A13	OCLN	MBTPS2	KISS1	MAMLD1	RPL15	FAM50A	MYL11	RPL11	ECEL1	DSP	CHRND	MTHFR	RPL27	NOTCH3	TRIM8	NDUFB11	FBXO11	IQSEC2	LRP6	LMX1B	ZC4H2	LHX4	ARHGAP31	DYRK1A	TXNL4A	CD96	FANCD2	RPS10	COL9A3	ARL13B	TACR3	POMGNT1	ZNF469	NFIX	TAC3	DLK1	DYNC2I2	TFE3	SIAH1	PEX2	NELFA	EPG5	EVC	MAF	SEC23A	KCNA1	PTCH2	FKBP14	ESS2	INPPL1	PLCB4	CEP57	ASPH	BCR	NIPBL	TELO2	PLAG1	H4C5	SUCLG1	RBM8A	CHST3	METTL23	GDF11	SMC3	SF3B2	INTS1	ARL6IP6	ARL3	DYNC2LI1	GRIP1	SLX4	RYR1	POLR2A	PEX5	SLC18A3	SCNM1	GRIN1	NEDD4L	WLS	CHRNA1	ITGA8	RPL35	NSDHL	TBR1	PGM1	EBP	CUL3	ALG9	HOXD13	RAD51	UFD1	ARID2	PNKP	ACBD5
HP_CLEFT_UPPER_LIP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLEFT_UPPER_LIP	PIGN	PROKR2	NEK1	ZIC2	KAT5	SEMA3E	TMCO1	STIL	PLCH1	DEAF1	GPC4	TGIF1	HYLS1	DDX59	POLR1C	FGD1	NODAL	DYNC2I1	FRAS1	PTCH1	CTBP1	CDH1	DVL3	FZD2	WDR35	TDGF1	SIX3	CTNND1	NSD2	WNT3	CYP26C1	TCTN3	GREB1L	WNT5A	FGFRL1	SMOC1	DYNC2H1	PHF8	H4C3	TAPT1	IRF6	MED12	GJA1	TCTN2	DLL1	SPOP	IFT80	SMPD4	TP63	FOXH1	CPLX1	FOXC2	DDX3X	MSX2	GAS1	RPGRIP1L	FGF8	GLI2	FGF20	FREM2	SHH	CHUK	YAP1	GRHL3	DHODH	LETM1	IQSEC2	BCOR	NECTIN1	LMX1B	SUMO1	DLX4	LHX4	MSX1	PIGV	ARHGAP31	FLII	TXNL4A	FGFR1	CC2D2A	PAX3	SMAD4	RPL5	POMT1	DISP1	CHD7	KIF7	DYNC2I2	SUFU	PIGG	RAI1	CDON	SLC2A10	VAX1	EVC2	PHGDH	COLEC11	KANSL1	TFAP2A	NELFA	EPG5	EVC	NUAK2	POMT2	PTCH2	ESCO2	DVL1	NIPBL	JUP	RET	RIPK4	FKRP	FAM20C	STAG2	NBN	RPS19	SLC29A3	NAA10	MEIS2	POLR1D	TCOF1	GLI3	OFD1	COLEC10	PROP1	MEOX1	SF3B4	RSPO2	GDF11	TGDS	GPC3	SF3B2	ACTB	POLR1B	B3GLCT	WNT9B	SMO	MID1	B3GALT6	ZSWIM6	ASXL1	CPLANE1	FLNB	DYNC2LI1	OTX2	RAB5IF	GRIP1	INTU	SPECC1L	FKTN	SMC1A	ALX3	WLS	HESX1	ITGA8	MASP1	NSDHL	TRAPPC9	EFNB1	LARGE1	POU1F1	CILK1	FOXA2	HOXD13	AMER1	PORCN	GFRA1
HP_PURSED_LIPS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PURSED_LIPS	LIFR	MYL11	HSPG2	MYH3	NALCN
HP_GLOSSITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLOSSITIS	PTPN22	MMACHC	LMBRD1	P4HA2	SLC46A1	SLC39A4	AMN	CLTRN	HLA-DRB1	SLC6A19	CUBN	HLA-B
HP_TRIANGULAR_MOUTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRIANGULAR_MOUTH	DVL3	TFAP2B	PIGA	BAP1	DVL1	INPP5E	KIF7	NXN	CHRNG	LAMB2	WNT5A	GTPBP2	NCAPG2	SNRPN	ERCC2	BUB1B	ROR2	PPP1CB	COLQ
HP_TRISMUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRISMUS	COL2A1	MYMK	MYH8	PNKD	SF3B4	TPM2	HSPG2	PRRT2	CLPB	EDNRA	GBA1	LIFR	KCNC2	CRLF1
HP_GINGIVAL_OVERGROWTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GINGIVAL_OVERGROWTH	PML	IDUA	DNAJC30	TBC1D24	IRF2BP2	MGAT2	DVL1	FAM20A	VPS37D	KCNK4	PLAGL1	FIP1L1	KIF7	COL3A1	AFF3	GPC4	IDS	ANTXR2	HIVEP2	IER3IP1	NABP1	FGFR2	FAM20C	ZBTB16	PRMT7	KCNJ6	SLC29A3	CCBE1	ADAMTS3	ABCA5	FBXO28	INSR	EXTL3	FAT4	GNPTAB	PLG	RIN2	C1R	METTL27	DVL3	FZD2	MMP14	FGF3	TRIM8	DHCR7	STAT5B	GLB1	WNT5A	TWIST2	PIGA	NPM1	KCNN3	MMP2	STAT3	SLC35C1	GTF2IRD1	ZEB2	OSTM1	BUD23	NFIX	ATP6V1B2	SOS1	PRKAR1A	BAZ1B	REST	RMRP	ELN	DDR2	BCL7B	SH3PXD2B	MLXIPL	LMNB1	VPS13B	EMC1	NCF1	MAN2B1	MYSM1	EIF4H	ABCC9	GTF2IRD2	KCNMA1	LIMK1	USP9X	NEU1	ATG7	FKBP6	TBC1D2B	AGA	TBCK	ASXL3	NXN	CD96	RFC2	LBR	GPC3	TBL2	TMCO1	TMEM270	HYMAI	KCNH1	GNAQ	ADAMTS2	GUSB	GTF2I	AIMP2	KIF1A	RARA	CNTNAP1	RALGAPA1	NUMA1	PIGS	CLIP2	PIGN	BCOR	MAP1B	TBL1XR1	ZNHIT3	ROR2	STX1A	SC5D	SATB2	C1S	SLC17A5
HP_THICK_UPPER_LIP_VERMILION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICK_UPPER_LIP_VERMILION	VPS51	BRCA1	RPS7	KDM4B	WDR26	COL11A1	EBF3	NSUN2	NAA20	PAK3	STRADA	GPC4	DENND5A	TOE1	THOC6	ABCC9	NAA10	MINPP1	CILK1	TWIST2	APC	CDK13	TMEM53	SC5D	SPATA5L1	NOG
HP_XEROSTOMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_XEROSTOMIA	NOD2	CHRM3	ELOVL1	SCN9A	MATR3	OPTN	NEK1	CCNF	ERBB4	CCN2	DCTN1	TP63	FGFR3	CLDN10	VAPB	PFN1	PON2	CFAP410	ANG	TBK1	UNC13A	SOD1	FGF10	ATXN2	FUS	HLA-DRB1	FIG4	CHCHD10	CAV1	PPARGC1A	PRPH	DAO	MAGEL2	SLC12A2	TARDBP	VCP	CCR6	ANXA11	GLT8D1	UBQLN2	FGFR2	LBR	TREM2	IRF5	PON3	NEFH	C9orf72	EDARADD	SQSTM1	TAF15	GLE1	HNRNPA1	SIM1	GSN	EPHA4	PON1	CHMP2B
HP_HIGH_PALATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_PALATE	MN1	MKKS	GABRA3	ZIC2	YARS1	CHRND	IL11RA	SDHD	PLCH1	FOXE3	CPLANE1	HECW2	ZBTB20	LRP12	LMNA	TGIF1	GNE	ZNF699	CPT2	EP300	CHRNA1	PURA	PIGY	KCNJ6	BMP4	ASXL3	NODAL	TPM2	FRAS1	PTPN11	TGFB2	KLHL7	FZD2	CDT1	DPYSL5	SPATA5L1	MEGF8	SIX3	SMAD2	SEC23B	EDEM3	VPS51	SIX1	SEC24D	TCTN3	MAT2A	ADA2	KCNN3	ATP6V1E1	LETM1	DBH	RPS28	MECP2	TGFBR2	DLL1	SPOP	CFL2	SKI	RBM10	TAF1	HOXB1	TWNK	KCNJ2	PALB2	DSE	COL6A2	MUSK	RPS29	CREBBP	NRCAM	CDC6	LZTR1	TOPORS	TNNI2	SP7	SATB2	BRCA2	REEP1	DVL1	SMCHD1	HSD17B4	RPL35A	RPS6KA3	PIGN	GLE1	RUSC2	WARS2	ABCC6	AP1G1	PIK3R1	TGFBR1	RIN2	SPEG	PGM3	PPP2R5D	APC	MYL2	CLTC	NDUFAF6	RYR1	RUNX2	KMT2A	CHRNE	DPH5	HSPG2	KDM5C	IGBP1	HEY2	PEX3	CHKA	COG1	COL12A1	BAP1	COL2A1	TRIO	KLHL41	MAD2L2	PIK3CA	ATN1	DDHD2	FGF8	MAP3K7	NEK9	GNB1	CDON	RECQL4	GLI2	CLP1	MINPP1	BRIP1	AEBP1	EBP	CDH2	MAP1B	CTBP1	SPEN	EFL1	EYA1	PTEN	FBN1	PPP1CB	SRY	STAC3	FGFR1	DPM2	RAD21	PCGF2	FLNB	MYCN	PIGB	CAMTA1	DLG3	CUL4B	ERMARD	DHX30	KDM6A	ZBTB24	RPL26	IGF1R	CHAMP1	POLR1D	HNRNPK	GSC	TCOF1	KMT2D	ATP6V1B2	MARS1	SELENON	FARSB	UBE3B	NOTCH3	MADD	IBA57	SLC25A1	GRB10	WNT5A	MEG3	CDH11	TTC5	IL6ST	TGDS	GPC3	RAPSN	PAH	ANTXR1	PRMT7	TBX1	COL5A1	SLC6A17	WDR35	CTU2	PLXND1	VPS13B	MAPK8IP3	VAC14	BIN1	RPS15A	CCDC28B	ZNF341	CCDC22	SLC35A2	PEX5	RPS23	GPC4	SHOX	MOGS	PIEZO2	MYH2	PEX16	FOXH1	GBA1	SMC1A	SHH	SOX6	LRRC8A	PUS1	ITGA7	FGFR3	GJA8	AGRN	PIGO	THSD4	HYMAI	KCNH1	AP4E1	HNRNPH1	SYT2	SMARCB1	FLCN	PTDSS1	MCM3AP	B3GALT6	DISP1	AMER1	FANCC	PHIP	ATP7A	NDUFA8	COL6A1	BRD4	CBS	NEK1	HBA1	CPSF3	STIL	POLRMT	COL3A1	QRICH1	NF1	MEGF10	KCNJ5	POLR1C	MYMK	ZMPSTE24	ATAD1	GATA1	RRAS2	DVL3	HYOU1	STAG1	ADAM22	ACTA2	AP4B1	ORC6	THOC2	IPO8	SMOC1	NEB	CCDC47	MYOD1	G6PC3	SPRED1	PAK3	SHOC2	MRAS	PAX1	ARX	PEX1	SLC5A7	KRAS	PMM2	SNX14	GTF2H5	FGFR2	OTUD6B	WNT7A	MAP2K2	TBC1D20	FH	GMPPB	PEX6	LMBRD1	SMAD3	MYH7	SEC23A	PPP1R21	MAPKAPK5	PEX19	TRIP4	DOCK3	FAM20C	MYH3	FBN2	CRKL	RAB3GAP2	BCOR	COX6A2	COL11A1	RERE	MYBPC1	ARCN1	PIGH	TMCO1	PEX13	TGFB3	WDR73	ALG3	HDAC8	PAX7	FANCI	TAOK1	TOE1	DDX11	DEAF1	MSTO1	GMNN	BICRA	MAPK1	RPL18	PQBP1	XRCC2	RPL31	TIMM50	PEPD	TBC1D24	ERCC3	SLC10A7	NSUN2	GATA4	PLAA	PLAGL1	ALG2	SNRPN	OSGEP	BMPR1A	PEX11B	COLQ	SLC18A3	RILPL1	ODC1	ACTN2	KPTN	PPP2CA	RPS19	EIF4A3	OFD1	SETBP1	BRAF	ANO1	PEX12	TAF6	ALDH6A1	MYO18B	CHRNB1	NSRP1	POR	CEP152	WASHC5	INSR	MRPL12	ORC1	FANCF	PAFAH1B1	TDGF1	DCHS1	CARS1	RRM2B	NFIX	NUP107	CD79B	CRLF1	SNAP25	ACTA1	PGAP2	PYROXD1	SLC25A24	NUP188	PEX2	KMT2B	RAF1	DPAGT1	NOTCH2	DPM1	OGDHL	MAP2K1	RPS20	CHD3	SH3PXD2B	SEMA5A	RAB3GAP1	COX14	RNF113A	CLCF1	GJA5	LAMB2	CHST14	TPM3	FANCM	NSD1	GAS1	MESD	PIGW	MT-TN	PYCR1	SCN4A	PIGA	HPDL	RPS17	CASK	ATP6V0A2	DHPS	ANK1	TMEM216	NAA10	AKT1	PIGU	DDR2	MAMLD1	DDX59	RNASEH1	FANCE	FOXP2	IGLL1	PUM1	PTCH1	FANCG	AP4S1	FAM149B1	AP1S2	PEX26	BBS1	SMS	NONO	TBCK	SC5D	PCLO	PDZD8	WDR4	CHRNG	CTSK	FANCB	AASS	IFT122	NSDHL	UBE2T	HNRNPU	DLK1	GPT2	LRP4	RTL1	KIAA0753	TCF3	CNOT1	FBXO28	DPYD	PLOD1	RPS24	MTM1	FBXL3	IFT140	ENPP1	UBA1	ATP6V1A	PDHX	RPS27	TWIST2	TET3	LIG4	GJA1	MED12	RRAS	NCDN	BMP2	RIT1	EXOC7	CD96	ORC4	FREM2	YARS2	MED12L	MTX2	KBTBD13	GFPT1	ZDHHC9	IGHM	LOX	DST	NEFL	HSPA9	YY1	NALCN	NUP88	STAT3	RAD51C	HRAS	TBX4	GTF2E2	LAGE3	FOXL2	KIF7	ARID1A	FANCA	ATR	SMARCD1	MYPN	FRMPD4	GATAD2B	HACD1	FIG4	TUBB	KANSL1	ZC4H2	RFWD3	MID1	MT-TE	PDE6D	COL6A3	SOX9	SYNGAP1	MYL1	IGF2	SPTBN1	TFAP2A	SDHB	COL13A1	BLNK	SPTBN4	NRAS	GNB2	CDC45	ARHGEF2	SOX11	POGZ	UPF3B	SPRED2	BRCA1	EPG5	TASP1	KCNK9	CDK10	TNNT3	CHAT	SCARF2	REV3L	LTBP1	CHST3	ERLIN2	ADARB1	ATRX	PIGT	FLNA	AFF4	ANKRD11	PSAT1	FUT8	PTPN14	HUWE1	ERCC4	MFAP5	SET	HBA2	TLK2	SMARCA2	PRKG1	CNTNAP1	COL1A2	SNRPB	CDK19	RPS7	SOS1	SHANK3	SDHC	TRMU	ADAT3	MAP3K20	H19	CLCN3	MYMX	COG5	HIVEP2	CTNND2	EXOC6B	RPS26	TTN	CBL	PIGV	ECM1	RAB18	SLC26A2	SMG9	ARID1B	SIK3	SLC39A13	EFNB1	OCLN	TRPS1	RPL15	AK9	PRPS1	MYL11	RPL11	EEF1A2	DMXL2	SEC31A	SLC2A10	RPL27	TRIP12	VAMP1	AIFM1	MPLKIP	SCO2	ATG7	ABL1	FANCD2	RPS10	EFEMP2	BRAT1	DDX6	GEMIN4	PUS7	ANOS1	BLTP1	TUBB3	CNTN1	TAB2	DOK7	SLC25A12	SIAH1	ZMYM2	MYO9A	CSNK2A1	RPL5	EXOSC9	SLC17A5	ESCO2	SLC12A6	ZNF292	GNPAT	ASPH	BCR	NOTCH2NLC	NIPBL	IER3IP1	MYLK	USF3	NR2F1	YWHAE	PCDHGC4	RAB23	H4C5	STAG2	ANAPC7	SOS2	AP4M1	TOGARAM1	ARL6	TARS1	TSR2	MAN2C1	GIPC1	SMC3	FN1	PEX10	EIF2AK3	ASH1L	HERC1	POLR1B	RASA2	SMAD4	HNRNPH2	IRX5	TWIST1	LGI4	PYCR2	ERCC2	SON	GRIP1	PEX14	SURF1	OBSL1	SLX4	INTU	POLR2A	FANCL	USP9X	PGAP3	LMOD3	MED13L	SCNM1	FAT4	HPGD	MYH11	COPB1	WLS	RET	LTBP2	RPL35	SIN3A	ALG14	MED25	DIS3L2	KLLN	RAD51	ELN	CA2	CTNNB1	ARID2	PIGL	CD79A
HP_THIN_UPPER_LIP_VERMILION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIN_UPPER_LIP_VERMILION	VPS35L	EIF5A	PPM1D	MAN1B1	RPL10	STIL	CTCF	KCNK4	SNRPN	HS2ST1	SASS6	IFT43	AFF3	QRICH1	MKRN3	HIVEP2	GNE	PHC1	DDX59	KCNJ5	ADGRG6	FOXG1	TRAPPC10	SMARCB1	MCM7	SMARCE1	PYCR2	TNRC6B	PIGK	RHOBTB2	AMMECR1	WAC	FAR1	MBD5	EDEM3	VPS51	MAGEL2	SPECC1L	DPM2	ARID1B	ADSL	MED13	THUMPD1	SMARCA4	KIF14	AP2M1	ANKRD11	PAK3	EXT1	SHMT2	NALCN	PMM2	KAT6A	DYRK1A	KDM1A	CLCN6	SMARCA2	TRPS1	ARX	SMPD4	TMEM94	GLIS3	BMP2	UNC80	SLC26A2	TAF1	CACNA1C	AP3B1	OTUD6B	ZNF407	SCN1A	KCNJ2	TRAPPC14	BCL11B	ZBTB18	DSE	PIGQ	MED12L	ANKLE2	HK1	CDC42	ALG12	CREBBP	POLR3A	LMBRD1	STEEP1	SATB2	MAPRE2	ASXL2	NEXMIF	BCL11A	DVL1	TRIP12	WARS2	PSMD12	CRKL	RALA	KNL1	PPP1R15B	AGO2	KIF11	STAG2	SMC1A	PIGV	PURA	PPP2R5D	PACS1	MKS1	TCF20	CLTC	SMAD4	CPLX1	ASXL3	KATNB1	TUBGCP2	KMT2A	MED12	KDM5C	MYMX	ARID1A	SMARCC2	PACS2	COG1	TRIO	OPHN1	ZNF526	CENPJ	COPB2	ATN1	OGT	EBF3	IFIH1	RNU4ATAC	IRF6	GATAD2B	PDE4D	BPTF	ATP6V1B2	HERC2	CLP1	MPC1	HDAC8	PIGN	FIG4	PRKDC	CDH2	WDR62	NCAPD3	RNF135	MAPK1	SPEN	PQBP1	TRRAP	AGL	ACTG1	SMARCD1	DPF2	CIT	MAF	CDH11	OCA2	CSNK2A1	SEC23A	WDR19	ROR2	SLC2A1	PPP1CB	NPAP1	TAF13	TBC1D24	PRKAR1B	PCGF2	SLC9A7	EXOSC2	ZNF292	TMEM147	CDC42BPB	PITX2	SNORD115-1	AARS1	SPTBN1	PTRH2	ABCC9	B4GALT1	BCR	NIPBL	CHD2	PWRN1	LAS1L	ADNP	ODC1	GNB2	IGF1R	MEIS2	CHAMP1	H4C5	SNORD116-1	PWAR1	CTNNB1	SETD5	ARHGEF2	TAF6	POGZ	SOX4	ATIC	SYT1	MYO18B	NOG	CNOT2	UBE3B	TASP1	EXOC2	CDK10	PUF60	WNT5A	CDK6	DDB1	TTC5	RAI1	KIF15	SETBP1	SRCAP	ADARB1	B3GLCT	RAD21	TBCE	ATRX	CLCN3	CDK13	MAPK8IP3	MCPH1	CDK5RAP2	TRMT10A	MID1	SLC25A24	IRX5	PDGFRB	AFF4	MEF2C	ARID2	SH3PXD2B	EP300	STT3A	PBX1	GJA5	TBL1XR1	ASPM	CHST14	ACTB	PIEZO2	PIGG	SMC3	PGAP3	NAA10	MFSD2A	HUWE1	KCNMA1	USP9X	ANKRD17	MCTP2	CEP152	DHPS	CEP135	GJA8	METTL5	DCPS	SOX11	PIGU	TLK2	OCRL	MTOR	NFIA	SIN3A	PLPBP	NONO	GAD1	OFD1	NDN	WASHC4	GNAI1	ALG9	CEP63	FBN1	CCNQ	SYNGAP1	KDM3B	SIM1	TRAPPC9	SLC6A1	KAT6B
HP_VELOPHARYNGEAL_INSUFFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VELOPHARYNGEAL_INSUFFICIENCY	MYMX	NEK1	ESS2	BMP4	DGCR2	TP63	MSX1	DGCR8	TWIST2	UBB	ARHGAP29	GRHL3	NECTIN1	PDGFRA	THOC6	TBX1	SIAH1	IRF6	DLX4	RAI1	RAD21	DGCR6	BICRA	SF3B4	CDH1	TWIST1	DLG1	RLIM	TUBB6
HP_FURROWED_TONGUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FURROWED_TONGUE	KDM5C	RAB3GAP1	CSPP1	HNRNPK	PIK3CA	KRT6A	TMEM67	SREBF1	INSR	GJB2	SLC39A4	SDHD	SOX5	SDHB	RPGRIP1	GPC4	CEP290	TXNDC15	IL36RN	B9D1	MED25	USF3	B9D2	PTEN	RERE	TCTN2	RAB3GAP2	KLLN	CC2D2A	MKS1	TCTN3	TMEM107	TMEM237	TCTN1	TMEM216	AKT1	ECEL1	SDHC	GPC3	TMEM231	RPGRIP1L	SEC23B
HP_ABNORMALITY_OF_TASTE_SENSATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_TASTE_SENSATION	SCN9A	SLC39A4	ELP1	WNK1	KIF1A	RETREG1
HP_GINGIVAL_BLEEDING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GINGIVAL_BLEEDING	PML	ITGB3	F13A1	F2	IRF2BP2	ITGA2B	WIPF1	IL18BP	ELMO2	FGB	GP1BB	HPS3	FIP1L1	TET2	FGG	C1R	GP9	NABP1	ZBTB16	GP1BA	IFNG	RACGAP1	SBDS	WAS	F13B	HPS1	LYST	CAT	KIF23	FGA	F7	LMAN1	STAT5B	F5	ADAMTS2	BLOC1S3	C1S	MYD88	TERT	SERPINF2	FCGR2C	BLOC1S5	NPM1	STAT3	MPL	GBA1	RARA	F10	MCFD2	NUMA1	SCARB2	TERC	F8	BCOR	TBL1XR1	PRF1	JAK2	PRKAR1A
HP_GINGIVITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GINGIVITIS	B4GALT7	ELANE	OCRL	FERMT1	CD40LG	ALMS1	KRT6A	GFI1	IRF9	NCF1	SLC37A4	GJB2	COL3A1	STAT3	NCF2	PLEKHM1	CLPB	LYST	CYBC1	CYBA	TCIRG1	SAMD9	CYBB	CAT	PLG	SRP54	CLTRN	ITGB2	NCF4	ELOVL4	GJB6	CTSC	SLC6A19
HP_EVERTED_LOWER_LIP_VERMILION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EVERTED_LOWER_LIP_VERMILION	DNAJC30	CDKL5	MECP2	MGAT2	MYCN	CYP4F22	VPS37D	IFT122	FBXL4	TMEM147	TFAP2A	DHX30	TGM1	QRICH1	SNRPN	POMGNT1	EDNRA	CUL7	EDARADD	ERCC2	EDA2R	ADNP	BDNF	PCDHGC4	PITX2	ASXL3	CHAMP1	DOCK7	SALL4	TFAP2B	EHMT1	EDAR	METTL27	FOXG1	SOX11	FRMD4A	MBD5	SMG9	MYO18B	ABCA12	FOXC1	H3-3A	SMARCA2	IFT52	SMS	RPL10	SCARF2	FGD1	REV3L	TBL1XR1	GTF2IRD1	EDA	ALOX12B	RPS6KA3	CCDC8	ERCC6	WDR35	OBSL1	BUD23	SRCAP	BMP2	TNPO2	IDUA	PLXND1	ALOXE3	SLC25A24	HSPG2	NIPAL4	IRX5	BAZ1B	ABHD5	MED12L	ELN	RAB3GAP1	EEF1A2	KIFBP	BCL7B	MLXIPL	BCL11A	ERCC5	SPECC1L	NCF1	CHN1	KMT2C	FBXO11	KANSL1	EIF4H	TTC26	TBC1D24	IFT43	GTF2IRD2	KCNMA1	LIMK1	ATRX	ERCC1	FKBP6	WDR19	RFC2	SULT2B1	TBL2	TMEM270	OCRL	MDH1	PUS7	ADAMTS2	CLIC2	GTF2I	FHL1	KCNH1	MCOLN1	PAX6	MED13L	BCAS3	MSX1	TFE3	HRAS	MED25	CLIP2	RAB3GAP2	ZSWIM6	IGF1R	NFIX	HGSNAT	MAFB	ANTXR1	ASPRV1	SDR9C7	GBA1	LIPN	NRAS	CDH11	STX1A	WT1
HP_THIN_VERMILION_BORDER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIN_VERMILION_BORDER	IARS2	NSD2	BMP1	STIL	HS6ST2	CTCF	HS2ST1	SASS6	IFT43	HNRNPU	GNE	PHC1	ADGRG6	IDH1	SMARCB1	SMARCE1	PIGK	FAR1	EDEM3	VPS51	MAGEL2	SPECC1L	DPM2	MED13	TWIST2	SMARCA4	KIF14	TBL1XR1	ANKRD11	EXT1	NALCN	KAT6A	DYRK1A	SPOP	BMP2	UNC80	SMC1A	SLC26A2	TAF1	KDM5B	PHIP	ARID1B	ZNF407	SCN1A	KCNJ2	TRAPPC14	ZBTB18	DSE	AP2M1	MED12L	ANKLE2	HK1	ALG12	CREBBP	POLR3A	GJA1	SATB2	ASXL2	JAG1	DDRGK1	DVL1	TRPS1	NDP	PIGN	WARS2	PSMD12	RALA	AGO2	GDF1	KIF11	STAG2	KNSTRN	PPP2R5D	PACS1	MKS1	TCF20	CLTC	NKX2-5	MAN1B1	ASXL3	KATNB1	TBCE	TUBGCP2	KMT2A	KDM5C	ARID1A	COG1	TRIO	ZNF526	CENPJ	CDC42	ATN1	EBF3	WAC	IRF6	GJA5	GATAD2B	PDE4D	ATP6V1B2	CLP1	MPC1	HDAC8	FIG4	PRKDC	GATA5	CDH2	XRCC4	NCAPD3	SPEN	TRRAP	SCYL2	ACTG1	SMARCD1	DPF2	CIT	LMNA	PPP1CB	FTO	GATA6	TAF13	RAD21	PRKAR1B	SYNGAP1	PCGF2	SLC9A7	AMMECR1	EXOSC2	TMEM147	SNORD115-1	SPTBN1	CAMTA1	MAF	ABCC9	KIF7	CHD2	STXBP1	PWRN1	MED12	LAS1L	NF1	ADNP	GNB2	NBAS	IGF1R	MEIS2	CHAMP1	COL3A1	PWAR1	CTNNB1	ARHGEF2	POGZ	SYT1	CNOT2	UBE3B	TASP1	EXOC2	ACTB	CDK10	ZFPM2	GRB10	WNT5A	CDK6	CDH11	DDB1	TTC5	FLT4	PTRH2	SRCAP	ADARB1	B3GLCT	ATRX	PRMT7	CLCN3	CDK13	MAPK8IP3	MCPH1	CDK5RAP2	TRMT10A	MID1	VAC14	PDGFRB	BPTF	AFF4	EP300	RPS23	PBX1	NOTCH2	ASPM	PIEZO2	PIGG	SON	PGAP3	NAA10	CKAP2L	TTI2	MFSD2A	HUWE1	MCTP2	CEP135	KDR	GJA8	METTL5	DCPS	SOX11	TLK2	OCRL	SMARCA2	NFIA	RAB3GAP1	GATA4	PLPBP	NONO	RUNX2	PUF60	KCNE5	THOC6	WASHC4	ACSL4	CEP63	FBN1	CCNQ	KDM3B	MPDU1	SIM1	TRAPPC9	PIK3CD	ATIC	FMR1	PRKACB	VPS35L	BRD4	EIF5A	PPM1D	TBX1	ERCC6	MGAT2	RPL10	KCNK4	SNRPN	SHOC2	AFF3	QRICH1	MYMX	MKRN3	HIVEP2	DDX59	KCNJ5	FOXG1	TRAPPC10	MCM7	PYCR2	TNRC6B	RHOBTB2	MBD5	NKX2-6	ADSL	THUMPD1	PAK3	SHMT2	PMM2	KDM1A	CLCN6	ARX	SMPD4	TMEM94	GLIS3	XYLT2	CACNA1C	AP3B1	OTUD6B	MYL11	BCL11B	PIGQ	CITED2	GLUL	LMBRD1	STEEP1	MAPRE2	NEXMIF	BCL11A	SEC23A	MAPKAPK5	TRIP12	MYMK	CRKL	KNL1	PPP1R15B	SLC45A1	PIGV	PURA	SMAD4	TXNL4A	CPLX1	CD96	BRAT1	UBE2A	SMARCC2	PACS2	OPHN1	COPB2	OGT	IFIH1	RNU4ATAC	HERC2	WDR62	RNF135	MAPK1	PQBP1	AGL	PRORP	OCA2	CSNK2A1	WDR19	ROR2	SLC2A1	NPAP1	TBC1D24	ZNF292	CDC42BPB	PITX2	AARS1	B4GALT1	BCR	NIPBL	ODC1	LIG4	H4C5	HMGA2	SNORD116-1	SETD5	LMX1B	TAF6	SOX4	EVC2	MYO18B	NOG	DNMT3A	PYCR1	METTL23	SMC3	HDAC4	RAI1	GLI1	ZMPSTE24	KIF15	SETBP1	SLC25A24	IRX5	MEF2C	BANF1	SMOC1	ARID2	SH3PXD2B	STT3A	CHST14	LIFR	LEMD3	ALG1	KCNMA1	USP9X	ANKRD17	CEP152	DHPS	PPP2R3C	PIGU	MTOR	SIN3A	DYNC2LI1	GAD1	OFD1	NDN	GNAI1	ALG9	SLC6A1	KAT6B	EVC	SC5D	PRKACA	TALDO1
HP_ABNORMALITY_OF_THE_FONTANELLES_OR_CRANIAL_SUTURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_FONTANELLES_OR_CRANIAL_SUTURES	LRP2	COX5A	CTSK	AASS	CYP27B1	IFT122	POU1F1	BMP1	NKX2-1	IL11RA	CTCF	NDE1	HNRNPU	LMNA	FGFR2	GPC4	TSHR	LTBP4	ZNF699	FLNA	CASZ1	COL11A1	ZIC1	ETFA	PURA	MEGF8	BMP4	PPP3CA	ORC1	ADAMTS3	SETD2	EXTL3	PDX1	GNPTAB	LMOD3	MVK	IGF2	IFT140	PEX5	NSMCE3	CDT1	TCIRG1	DPYSL5	COL11A2	PEX14	ASXL1	ATP6V1A	TCF12	SHPK	SPECC1L	HSPG2	PEX26	ZMPSTE24	PEX10	FAM111A	SEC24D	ATP6V0A2	RSPRY1	GP1BB	SLC39A8	GLI3	TAPT1	LIG4	MMP2	ZEB2	ANKRD11	TGFBR2	B4GALT7	MED12	RREB1	CREB3L1	KAT6A	PCNT	SKI	RBM10	KDM5B	NFIX	ORC4	DSE	COL1A2	CHUK	MTX2	CREBBP	POLR3A	CDC6	TPO	GJA1	SP7	H3-3B	ERCC5	DVL1	HSD17B4	CYP26B1	NARS2	IYD	DPH1	WNK1	YY1	SMO	AGO2	TBX1	PRDM16	SCUBE3	STAT3	PPP2R5D	COLEC11	BPNT2	IL6ST	NPHP3	SLC26A4	KIF7	HDAC4	ASXL3	FGFR1	HRAS	DUOXA2	RUNX2	HNRNPK	GTF2E2	IFT43	APC2	ZFHX4	LHX3	ADAMTS2	PDPN	ETFB	MMP14	ATR	PIGO	SMARCD1	SETD1A	KCNJ11	SLC2A10	ATP6V1B2	FIG4	KANSL1	MAP1B	TBCE	CEP120	P4HB	DPF2	MID1	PEX16	WT1	MAN2B1	PPP1CB	CYP2R1	SC5D	SOX9	ERF	MYCN	KDM4B	PAX8	TNFSF11	SPTBN1	MAF	ATP7A	ALX4	ERMARD	FBN1	GABRD	STXBP1	PTDSS1	RTTN	FGFR3	GPX4	SLC25A24	CDC45	TG	REN	INTU	CDKN1C	FOXG1	KRT5	FBLN5	CWC27	KLHL41	SLC12A6	DMP1	NOTCH3	ACTB	NSD1	GRB10	DONSON	WNT5A	SCARF2	P3H1	DDB1	LTBP1	ERCC6	ADAMTSL1	CLCN7	RETREG1	NFIA	ADARB1	ANTXR1	B3GLCT	PIGT	MMP23B	VAC14	COMT	POR	AFF4	ERCC1	CCDC22	AKT1	CDK8	EP300	LHX1	SEC24C	PEX6	NOTCH2	ATRIP	ETFDH	DCHS1	SMAD3	SON	USP7	SNX10	B3GALT6	NAA10	HUWE1	MAP3K7	NFASC	RNF125	GJA8	KLF1	PAM16	RBBP8	ZNF462	TLK2	HYMAI	IFITM5	SRCAP	MSX2	KIF1A	ALDH18A1	THRA	MASP1	PEX1	ACE	DUOX2	POLA1	POGZ	FOXE1	CCNQ	NDUFAF3	COL1A1	KCNQ1OT1	MPDU1	AMER1	KRT14	VARS1	VDR	COL25A1	TGFBR1	ROR2	CEP152	VPS35L	ASPA	TWIST1	H19	CLCN3	NKX2-5	TSHB	PEX3	MEG3	HPGD	CCBE1	SCN9A	RNU12	FAT4	SPEN	KLHL40	SMG9	ORC6	INPPL1	ENPP1	ADSL	AGT	IPO8	EFNB1	H4C9	TENT5A	FREM1	PEX19	WDR35	AHDC1	BCL11B	CEP57	ARX	GLIS3	CHD4	KRAS	LEMD2	SMAD6	GTF2H5	SIX2	MAPK1	ACTG1	PIGQ	ALPL	PSAT1	RAB23	TRAIP	SEC23A	PPP1R21	HNF1B	FAM20C	AIFM1	MPLKIP	KDELR2	LUZP1	UBR1	FKBP10	NEB	WDR19	PPIB	RECQL4	DDX6	TMCO1	PEX13	PPFIBP1	NEPRO	CDH11	FLNB	GPC6	BMPER	KCNAB2	PROP1	ABCC8	PEX12	CRTAP	PEX11B	GMNN	BICRA	CHD5	PEX2	GH1	KCNQ1	AGTR1	CENPE	CENPJ	MYH3	KPTN	TBC1D24	ESCO2	ERCC3	NSUN2	CTSD	ELN	SH2B1	ZNF292	SETBP1	LRP5	PLAGL1	RERE	GNPAT	ATP6V1E1	LHX4	ERCC2	HIRA	PCDHGC4	RPS19	CAV1	COLEC10	ACTA1	SLC35A2	PRKCZ	COG4	LMX1B	PPP2R1A	RAC3	NSRP1	CCDC134	NUP85	TOGARAM1	DLK1	TARS1	WASHC5	DNMT3A	IFT52	ARVCF	PYCR1	TMEM216	PTEN	CHST3	PRIM1	PDGFRB	HERC1	CARS1	SLC5A5	NUP188	GCK	ZSWIM6	IRX5	BANF1	PLOD2	SH3PXD2B	RNF113A	GJA5	HESX1	CHST14	TANC2	SMC3	UBE4B	ALG8	MESD	PLK4	PIGA	ALG1	PHEX	ATRX	RTL1	LEMD3	ALG9	GPC3	EXOC8	NLRP3	INS	MTOR	JMJD1C	PTCH1	OTUD5	SLC34A3	B3GAT3	RNU4ATAC	PIEZO2	EBP	HOXD13	RPS6KA3	TBCK	PRKG2	UFD1	ARID2	TALDO1
HP_ABNORMALITY_OF_THE_ANTERIOR_FONTANELLE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ANTERIOR_FONTANELLE	VPS35L	LRP2	ASPA	SOX9	COX5A	NSUN2	H19	MYCN	CTSK	IGF2	PLAGL1	KIF7	ATP6V1E1	PEX3	PEX11B	COL11A1	ZIC1	ETFA	CDC45	MEG3	GNPTAB	TSHB	INTU	SETBP1	PEX12	DSE	COG4	IFT140	PEX5	NSMCE3	ATP7A	DPYSL5	SMG9	COL11A2	PEX14	ATP6V1A	DLK1	PEX26	PEX10	POR	FGFR3	COL1A1	ATP6V0A2	GRB10	WNT5A	PEX19	ORC1	P3H1	LIG4	MMP2	MPDU1	ANKRD11	MED12	DCHS1	ARX	SKI	GLIS3	PEX1	PEX2	ANTXR1	B3GLCT	MID1	SLC25A24	SIX2	TWIST1	PIGQ	FLNA	CHUK	BANF1	CREBBP	PEX6	SH3PXD2B	EP300	DVL1	PEX13	COL1A2	TBCE	SMC3	ETFDH	PEX16	NAA10	PPP2R5D	UBR1	NFASC	RTL1	HDAC4	ALG9	FAT4	HRAS	RUNX2	KLF1	FAM111A	NLRP3	HYMAI	POLR3A	NEPRO	ADAMTS2	ETFB	MTOR	MASP1	ATR	RNU4ATAC	PIEZO2	ZMPSTE24	EBP	CRTAP	FGFR2	NDUFAF3	AMER1	GH1	RPS6KA3	VARS1	CDH11	GLI3	SEC23A	WT1	ROR2	TALDO1
HP_SMALL_ANTERIOR_FONTANELLE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_ANTERIOR_FONTANELLE	VARS1	HYMAI	ORC1	ATR	MYCN	RNU4ATAC	PLAGL1	NFASC
HP_HYDROCEPHALUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYDROCEPHALUS	RASA1	EOGT	SMARCE1	ARSB	ZIC2	IARS2	FANCB	HSPG2	TRNT1	IFT43	PLCH1	UBE2T	FUZ	HNRNPU	RPGRIP1	FGFR2	GPC4	MFN2	TGIF1	HYLS1	CPT2	RNASEH2A	FKTN	B9D2	RSPH3	B3GALNT2	NODAL	WASHC5	NDUFB11	B4GAT1	KRAS	STK36	PRKAR1A	FKRP	TSC2	TCIRG1	CFAP300	FLVCR2	SIX3	PLG	CYP26C1	SEC24D	GP1BB	CBY1	CCDC65	GLI3	VANGL1	ZIC3	SMO	LIG4	CCND2	DOCK6	GALC	MED12	RREB1	POMK	TMEM237	DLL1	FGFR3	SKI	RAD51	CSPP1	DAG1	GAS1	TCTN1	PALB2	STIL	SHH	DNAH1	DNAH5	CEP290	NRCAM	POLR3A	POMT1	SPAG1	FOXH1	BRCA2	FGF8	NOTCH1	GFAP	DNAI1	TMEM67	BAP1	TMEM218	CFAP221	PTCH1	POMT2	CTNNB1	TBX1	MKS1	GMPPB	CC2D2A	RAD51C	HRAS	LARGE1	POMGNT1	NF2	GLI2	MCIDAS	MAD2L2	CEP41	GPSM2	GAS2L2	FANCA	COL4A1	KIF1A	CDON	DNAAF5	SUFU	WDR81	POMGNT2	EPHB4	BRIP1	EBP	NEU1	DHCR24	ERCC3	RFWD3	ZNHIT3	P4HB	MT-CYB	RXYLT1	MAN2B1	CRPPA	FTO	HCCS	IDUA	NRAS	L1CAM	SOX9	ERF	LETM1	FGFR1	CPLX1	KDM4B	ZBTB20	TNFSF11	SPTBN1	PAK2	FBN1	KDM6A	GAS8	TMEM216	OFD1	SMARCB1	ERCC8	TCTN3	KMT2D	NSD2	CRB2	SALL1	SAMD9	CDCA7	BRCA1	ZNF423	RBPJ	ZBTB24	ARHGAP31	KIAA0586	CENPF	CEP120	WNT3	CCL2	TBX15	AKT3	DNAAF1	CLCN7	MYT1L	ODAD3	TOE1	B3GLCT	HELLS	UNC45A	TNFRSF11A	VAC14	COMT	HBA2	DNAI2	DCC	MTM1	CCDC22	LAMB1	SEC24C	TTC12	NOTCH2	RPGRIP1L	RPGR	CCDC88C	TRAF7	SNX10	COX7B	MTRR	B3GALT6	GBA1	ERCC4	TCTN2	SMC1A	RNF125	CCDC103	CCNO	GNAQ	GUSB	CEP83	ZPR1	PRDX1	DNAAF6	TGFBR2	PTDSS1	OGDH	CILK1	VANGL2	AMER1	DISP1	TRPV4	CCDC39	FANCC	TGFBR1	TRIM71	KATNIP	DNAJB13	TREM2	TYROBP	CLCN3	MMACHC	GCDH	SHOC2	NF1	TBXT	MPDZ	HDAC6	TXNDC15	DNAAF4	FANCD2	CSF1R	MC1R	TMEM107	CTBP1	ODAD4	AHI1	INPP5E	PTEN	DLL4	TDGF1	DPH1	PIBF1	ARMC9	SIK3	FGFRL1	SUMF1	H4C9	PAK3	OSTM1	PIK3CA	PEX19	IRF4	IFNG	FOXJ1	EML1	NME8	FANCL	PDGFB	PRKAG2	MAP2K2	ODAD2	LMBR1	FLNA	PPP1CB	ERCC5	NOTCH3	IDS	CLIC2	KIF7	FAM20C	DHCR7	PTCH2	DNAH11	RSPH4A	NEK10	PIGV	AKT1	BRAF	HYDIN	FAM111A	SPEF2	CFAP298	MBTPS2	RSPH1	RECQL4	CPLANE1	ARL13B	RSPH9	BLTP1	MUSK	TUBB3	IFT172	DNAAF2	PIK3R2	FANCI	ALG13	ERCC6	TAOK1	B9D1	NKX3-2	BICRA	TMEM231	XRCC2	MAF	SLC17A5	ZMYND10	TAF2	ESCO2	NSUN2	CDC42BPB	LRRC56	B4GALT1	FIG4	COL18A1	DENND5A	TERT	HIRA	SLC29A3	VPS33A	DNAL1	STAG2	TSC1	TOGARAM1	TMEM222	PPP2R1A	RAC3	POR	CFAP43	ARVCF	CHST3	DNAAF3	AP1S2	DNMT3B	FANCF	CDC40	SF3B2	COG6	HERC1	TRMT1	NFIX	CCDC40	SF3B4	USP7	CEP104	SLC25A24	PIEZO2	ALDH7A1	SMOC1	NPHP1	DNAH9	ARL3	FRAS1	DNAAF11	TMEM138	FANCM	TP53	SLX4	KANSL1	HBA1	TTC26	PYCR1	GPC3	PPP2R5D	PIGU	SLC13A5	ERCC2	SLC2A1	JMJD1C	B3GAT3	FANCE	RNU4ATAC	MAP2K1	FANCG	SOX2	VSX1	DRC1	PORCN	ODAD1	UFD1	BUB1B	RSPO2	MTHFR	ROGDI
HP_LARGE_FONTANELLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_FONTANELLES	VPS35L	LRP2	SLC26A4	COX5A	POU1F1	CLCN3	NKX2-5	NKX2-1	TSHB	FGFR2	TSHR	PEX3	LTBP4	LMNA	COL11A1	ETFA	MEG3	HPGD	RNU12	LMOD3	MVK	KLHL40	IFT140	PEX5	NSMCE3	SMG9	COL11A2	PEX14	SHPK	ALDH18A1	PEX26	INPPL1	ZMPSTE24	PEX10	ATP6V0A2	AGT	PAX8	LIG4	MPDU1	MED12	PEX19	ARX	SKI	GLIS3	RBM10	PEX1	SIX2	ACTG1	DSE	PIGQ	COL1A2	CHUK	MTX2	FAT4	FLNA	ALPL	CREBBP	POLR3A	PEX6	TPO	GJA1	DVL1	SEC23A	HSD17B4	IYD	HNF1B	FAM20C	PPP2R5D	NEB	NPHP3	KIF7	ASXL3	HRAS	DUOXA2	RUNX2	PEX13	LHX3	IGF2	NEPRO	ADAMTS2	ETFB	CYP27B1	BMPER	PROP1	PEX12	CRTAP	PEX11B	FIG4	PEX2	KCNQ1	AGTR1	MID1	MAF	PEX16	CDH11	GLI3	WT1	ROR2	CYP2R1	SOX9	NSUN2	SETBP1	SPTBN1	GNPAT	LHX4	PTDSS1	GPX4	CDC45	CAV1	ACTA1	TG	REN	RECQL4	INTU	COG4	CDKN1C	KLHL41	DLK1	POR	FGFR3	ACTB	COL1A1	PYCR1	WNT5A	P3H1	DCHS1	ANTXR1	B3GLCT	SLC5A5	SLC25A24	ZSWIM6	TWIST1	SH3PXD2B	EP300	LHX1	MSX2	HESX1	CHST14	ETFDH	USP7	ALG8	NAA10	PIGA	ALG1	RTL1	ALG9	KLF1	PAM16	MTOR	MASP1	SLC34A3	ACE	DUOX2	PIEZO2	EBP	FOXE1	NDUFAF3	HOXD13	KCNQ1OT1	AMER1	VDR	ATP7A	TALDO1
HP_PARIETAL_BOSSING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARIETAL_BOSSING	PTCH2	SUFU	POLR3A	MPDU1	FGFR3	RUNX2	PTPN11	FIG4	KRAS	PTCH1
HP_TRIGONOCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRIGONOCEPHALY	ZIC2	FGFR1	DPM2	LMNB2	LMNB1	IL11RA	ACTB	DPH1	GPC4	MYSM1	FLI1	USP7	SLC6A9	HUWE1	PPP3CA	C2CD3	EFTUD2	GNPTAB	PLOD1	MSX2	ASXL3	CD96	IFT140	GPC3	MEGF8	ASXL1	FREM1	PDHX	GLI3	PTCH1	ARHGEF9	RB1	FRMPD4	FGFR2	FLCN	CHD4	ADNP	ACTG1	NUP188	DPF2	DPM1	GTF2H5
HP_BRACHYTURRICEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRACHYTURRICEPHALY	SKI	FGFR2	SP7	PEX1	RECQL4	FHL1	FGFR1	MSX2	FAM20C	SYT1
HP_ABNORMAL_PARANASAL_SINUS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PARANASAL_SINUS_MORPHOLOGY	MDM4	PNP	MGP	WIPF1	DNAJB13	DNAH5	NFKB1	TNFRSF13C	NF1	COL5A2	SERPINA1	RPGR	CCDC103	IRF8	DOCK8	TGFB1	DNAAF4	TCF3	RSPH3	RFXAP	PIK3CD	STK36	SLC9A3	ODAD4	DRC1	CFAP300	C4B	SFRP4	BTK	CLCA4	NCF1	CCDC65	TAP2	CFAP45	RAC2	TNFRSF13B	CYBA	IL17RA	PSMB9	IL2RG	FOXJ1	RFXANK	DNMT3B	NME8	ODAD3	UNC119	CEACAM6	CYBB	NME5	SIX2	KCNJ2	FCGR2A	ODAD2	ODAD1	CTLA4	FLNA	DNAH1	SH3KBP1	MAGT1	IGHM	SPAG1	SMCHD1	LRBA	PRTN3	PSMB8	CYBC1	DNAH11	DNAI1	NFKB2	PRKAR1A	PIK3R1	CFAP221	RSPH4A	GCLC	NEK10	RSPH9	HYDIN	HLA-DPB1	SPEF2	CFAP298	ZMYND10	RSPH1	DCTN4	COL11A1	RUNX2	WAS	TMCO1	TRIM37	MCIDAS	CD19	HFE	GAS2L2	EDNRA	DNAAF2	ICOS	ACP5	SLC11A1	AGA	CR2	DNAAF5	FCGR3A	CD79B	USB1	SPI1	MIF	MAN2B1	IGKC	CFAP52	ALMS1	NCF4	ATRX	DNAL1	LRRC56	BLNK	STXBP2	IL21R	ADA	RFX5	GAS8	OFD1	PRKCD	NBN	CCDC40	CFI	FUCA1	KCNN4	SRP54	TAPBP	DNAAF11	DNAAF6	SBDS	IVNS1ABP	CFTR	DNAAF3	ALX3	ALX1	NCF2	CCDC39	SLC26A9	ELANE	DNAAF1	PDE4D	TBX1	SLC6A14	CTSK	LRRC8A	DNAI2	HMOX1	NOTCH2	ZNF341	IGSF3	IKBKB	DNAH9	GSTM3	TTC12	TAP1	ATM	RNF168	PGM3	SASH3	DNAJC21	PSMB4	EFL1	ADA2	IGHG2	CCNO	HLA-DPA1	PDE11A	CXCR4	IGLL1	IRF2BP2	CEACAM3	PTPN22	STX1A	MPDU1	AMER1	FMR1	COL5A1	CIITA	CD79A
HP_BRACHYCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRACHYCEPHALY	BRD4	PCLO	MN1	MGAT2	TMCO1	CLCN3	IL11RA	FGFR2	PNPLA6	DEAF1	ALX1	ZBTB20	FGFR1	CASZ1	ZIC1	IRF2BP2	POLR1C	RAB18	IPO8	NANS	PIGY	BMP4	WASHC5	RNU12	EHMT1	SPEN	CAMK2A	PIGV	WAC	PRKAR1A	PIGL	MBD5	DPYSL5	MEGF8	DPH1	SKI	SPOP	SATB1	TCF12	HDAC8	ALDH18A1	HSPG2	ARID1B	PHF21A	ATP2B1	ADSL	HCFC1	GRIA3	EFNB1	CCDC47	TBL1XR1	TAPT1	TET3	MMP2	TTC8	TAF8	MED12	RMRP	NFKB1	PEX1	RAI1	SMC1A	DDX3X	HNRNPR	FGFR3	OTUD6B	FBN2	ADAMTS10	PAICS	TECPR2	ZDHHC9	GJA1	SP7	H3-3B	MTX2	KMT2C	CYP26B1	TRIP12	SPECC1L	FAM20C	HSPA9	TWIST1	PTCH2	IQSEC2	ICOS	ZC4H2	PTCH1	PRDM16	LUZP1	TCF20	SRD5A3	KIDINS220	FLII	COL11A1	KDM1A	RECQL4	GATA1	TGFB3	UBE3A	BAP1	POLR3A	PDPN	SATB2	CDH11	RNF216	RAF1	LRPPRC	FHL1	PQBP1	MMP14	NALCN	AGA	RUNX2	MED13L	KCNAB2	PDE4D	RALGAPA1	ATP6V1B2	PRKD1	RAB3GAP2	CR2	TUBB	XRCC4	CD19	TNFRSF13B	TDP2	MAF	GBA1	FBN1	MAN2B1	UBE3B	RAD21	TBC1D24	ERF	ESCO2	PCGF2	TBX2	SLC12A6	LRP5	PTH1R	NGLY1	PTRH2	EXT2	FOXF1	ATP7A	FREM1	RERE	COL2A1	NOVA2	NIPBL	GABRD	STXBP1	SMG9	GNB2	NBAS	SLC25A24	GALNT2	LIG4	RAB23	HDAC4	H4C5	POLR1D	TCOF1	PRKCZ	INTU	ZMYND11	DSE	SETD5	LMX1B	UPF3B	POGZ	RAC3	ATIC	RBM8A	POR	TBC1D20	STAC3	CDK10	PIGA	SMS	CHST3	ALG9	SMC3	TTC5	SUFU	SYT1	ADAMTSL1	POLR1B	SETBP1	NEK1	ADARB1	PIGT	PGAP2	USP7	MECP2	MMP23B	CTU2	ZSWIM6	IRX5	RAB3GAP1	SH3PXD2B	NFKB2	GJA5	CHST14	UBE4B	ANKRD11	TNFRSF13C	POLR2A	MESD	B3GLCT	PIGW	ALX4	HUWE1	USP9X	ANKRD17	PGAP3	MSX2	GJA8	MS4A1	PIGO	BRAF	CD81	UNC80	TNFSF12	AUTS2	B3GAT3	FKBP10	ACOX1	SNRPN	ADNP	FKTN	PTPN11	PRKCD	TRAPPC9	CA2	AMER1	BUB1B	CNOT3	FUCA1
HP_PROGRESSIVE_MICROCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_MICROCEPHALY	PNKP	EXOSC3	EXTL3	TSEN2	DPM2	PCLO	SEPSECS	GLYCTK	PTRH2	CDKL5	ATP6V1E1	GRIA2	AGTPBP1	VRK1	VPS53	RNASEH2A	TSEN54	CDC45	FOXG1	TSEN15	ERCC6	ALG1	ALG12	ATP6V1A	RNF113A	DOLK	CC2D1A	MFSD2A	ACO2	PCDH12	GOT2	EFTUD2	MED17	ARFGEF2	ATP6V0A2	SLC25A46	LGI3	PPT1	COG1	PUS3	TSEN34	SMPD4	TOE1	STAMBP	MGAT2	SNAP29	CNP	COG7	EXOSC8	SCN8A	PYCR2	RARS2	EXOSC9	NDUFS1	EMC1	SLC25A19	SLC2A1	ERCC8	IQSEC2	SLC39A14	SPTAN1	QARS1	NAPB	CASK	TREX1	TRAPPC6B	MECP2	TUBGCP2	LAMB2	SLC1A4	MDH1	CDC42	RNASEH2C	BRAT1	WWOX	CCDC88A	ZNHIT3	PLAA	CLP1	MPC1	ALG9	ASNS	ZSWIM6	POMK	SLC25A22	PNPO	VARS1	COG8	PAFAH1B1	FAR1	ACBD5
HP_WIDE_ANTERIOR_FONTANEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDE_ANTERIOR_FONTANEL	VPS35L	LRP2	SOX9	COX5A	NSUN2	KIF7	PEX3	PEX11B	COL11A1	ETFA	CDC45	MEG3	TSHB	INTU	SETBP1	PEX12	COG4	IFT140	PEX5	NSMCE3	SMG9	COL11A2	DLK1	PEX26	PEX10	POR	FGFR3	COL1A1	ATP6V0A2	WNT5A	PEX19	P3H1	LIG4	MPDU1	MED12	DCHS1	ARX	SKI	GLIS3	PEX1	PEX2	ANTXR1	B3GLCT	MID1	SLC25A24	SIX2	TWIST1	PIGQ	CHUK	FLNA	CREBBP	PEX6	SH3PXD2B	EP300	DVL1	PEX13	PEX14	COL1A2	ETFDH	PEX16	NAA10	PPP2R5D	RTL1	ALG9	FAT4	HRAS	KLF1	NEPRO	ADAMTS2	ETFB	MTOR	MASP1	PIEZO2	ZMPSTE24	EBP	CRTAP	FGFR2	NDUFAF3	CDH11	GLI3	SEC23A	WT1	ROR2	TALDO1
HP_TURRICEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TURRICEPHALY	RAB23	TWIST1	ERF	SP7	MN1	FGFR2	SEC24C	KDM4B	GJA5	IL11RA	P4HB	FAM20C	AP1G1	FERMT1	PEX5	MEGF8	HIRA	GPX4	TBX1	SOX6	SEC24D	RECQL4	MSX2	GJA8	POR	SLC12A6	GP1BB	ARVCF	FHL1	JMJD1C	ACP5	ALG14	TRIP11	ZIC1	SYT1	RREB1	SKI	PEX1	FGFR3	FGFR1	SLC25A24	COMT	UFD1
HP_OXYCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OXYCEPHALY	RAB23	MEGF8	TWIST1	IL11RA	SOX6	FGFR2
HP_ABNORMAL_MASTOID_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MASTOID_MORPHOLOGY	RAG1	DLX3	RAG2	SLC39A14	NBN	CTSK	CDH11	PAX1	TPP2
HP_MASTOIDITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MASTOIDITIS	RAG1	RAG2	SLC39A14	NBN	PAX1	TPP2
HP_CRANIAL_ASYMMETRY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRANIAL_ASYMMETRY	PEX19	POLR3A	LETM1	HRAS	CPLX1	NRAS	MTOR	FGFRL1	RNF135	KRAS	MAF	CTBP1	PIK3CA	NSD2	AKT3
HP_DOLICHOCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DOLICHOCEPHALY	TBX1	TWIST1	MAN1B1	MN1	CHRNG	ITCH	ARSB	FANCB	BLM	IFT122	RAB39B	APC2	RPL10	IL11RA	CUL7	IFT43	UBE2T	MKRN3	PEX3	FBN1	LTBP4	KCNJ5	ALX4	IPO8	RNU4ATAC	RYR1	IFT52	ASXL3	SETD2	FGFR2	MTM1	MVK	IFT140	PEX5	DPH1	PEX14	NSD2	ERF	PEX10	NKX2-6	GLI3	ATP6V0A2	PSMC1	TBC1D7	ADH5	THUMPD1	YY1	CCDC8	PEX19	WDR35	OBSL1	EXOC6B	CEP57	SKI	CPLX1	KRAS	KDM5B	FBN2	SLC3A1	PALB2	CITED2	PTH1R	TRAIP	DMXL2	BRCA2	H3-3B	JAG1	IFT81	NOTCH3	HSD17B4	TRIP12	IDS	RUSC2	LETM1	AGO2	ERGIC1	SLC6A9	GDF1	TGFB2	PPP2R5D	SCO2	PRPS1	NKX2-5	IL6ST	C12orf57	DYM	RAD51C	ARCN1	WDR19	FANCD2	KMT2A	TGFB3	TRIM37	MAD2L2	DLX3	CNTN1	TAB2	EBF3	FANCA	FANCI	PIGG	GJA5	PEX12	HERC2	BRIP1	SUPT16H	PEX11B	FIG4	GATA5	BICRA	TFAP2A	PI4KA	FGF9	PTEN	NELFA	HGSNAT	ATP6V1B2	KDM6B	RFWD3	XRCC2	PEX16	ALPL	VDR	KPTN	NPAP1	GATA6	INPPL1	CDC42BPB	SNORD115-1	SPTBN1	ERMARD	KMT2E	NAA20	PWRN1	GNB2	PCDHGC4	BRAF	HNRNPK	SNORD116-1	OFD1	PWAR1	BRCA1	MADD	NSD1	ZFPM2	TMEM216	SCARF2	RAF1	ALG14	FLT4	PRIM1	FANCF	ASH1L	KIF15	NFIX	AKT1	PEX2	ATRX	INTS1	COL5A1	MGAT2	VAC14	RELN	ZNF142	SNAP29	OGDHL	PEX6	KATNB1	NOTCH2	PEX13	KCNJ2	FANCM	SMAD3	SLX4	MAGEL2	SHANK3	PREPL	SCYL2	NDE1	PEX26	ERCC4	FANCL	MSL3	SOX6	TMEM53	COL25A1	SCNM1	KDR	KCNK9	KCNH1	ORC4	IDUA	GATA4	PEX1	FANCE	CNTNAP1	MYH3	FANCG	DIS3L2	SLC35D1	CILK1	FKTN	RAD51	CTBP1	NPR2	FANCC	CNOT3
HP_PROMINENT_OCCIPUT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_OCCIPUT	CCDC22	TWIST1	TBC1D24	IFT122	ITCH	NRAS	MYCN	IFT81	KATNB1	DLL3	GJA5	NOTCH2	HES7	PLAGL1	TBX6	MOGS	KIF7	NDE1	ALX4	IFT43	PIGA	CNOT1	RNU4ATAC	WASHC5	HRAS	SOX6	TFAP2B	CDKN1C	GJA8	WDR19	SMG9	KAT6B	LFNG	ERF	HYMAI	IGF2	IFT52	TOR1A	RIPPLY2	GDF11	MED12	ATP7A	WDR35	ATP6V1B2	FLNB	NFIX	PIGN	CDK13	KCNQ1OT1	MESP2	CTSK	KCNQ1	B3GALT6	RELN	GLI3	FLNA	CHUK	CNOT3	KRAS
HP_DELAYED_CRANIAL_SUTURE_CLOSURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_CRANIAL_SUTURE_CLOSURE	ASPA	NSUN2	H19	CTSK	ELN	POU1F1	IGF2	FGFR2	MAF	RERE	TSHB	LMNA	ATP6V1E1	GABRD	LHX4	PTDSS1	FAM20C	CASZ1	ZIC1	ZMPSTE24	ALDH18A1	RPS19	TG	RNU12	PRKCZ	SPEN	DSE	ATP7A	FBLN5	PEX14	SKI	ATP6V1A	HSPG2	TWIST1	FAM111A	ACTB	ATP6V0A2	FLNA	GRB10	LIG4	MMP2	ANKRD11	PRIM1	PDGFRB	MED12	PEX19	ANTXR1	GLI3	FGFR3	SLC5A5	MMP23B	ACTG1	BANF1	CREBBP	TPO	SH3PXD2B	EP300	MTX2	HSD17B4	PPP1R21	HESX1	CHST14	IYD	TBCE	SMC3	USP7	UBE4B	NAA10	PRDM16	LUZP1	HDAC4	RNF125	DUOXA2	RUNX2	NLRP3	DDX6	LHX3	POLR3A	ADAMTS2	PDPN	KCNAB2	DUOX2	PROP1	ALG9	CRTAP	BICRA	AMER1	GH1	RPS6KA3	SEC23A	ROR2
HP_MALAR_FLATTENING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALAR_FLATTENING	PDZD8	HBA1	MAN1B1	COL1A1	BLM	LRP4	COL2A1	CUL7	FGFR2	NSDHL	ZBTB20	BGN	B3GALT6	LTBP4	ACAN	COL11A1	POLR1C	RNU4ATAC	CANT1	RNU12	EHMT1	TGFBR1	ELN	TBX1	ATP6V1A	SLC26A2	FBN1	SETD2	RSPRY1	GP1BB	IPO8	TAT	TGDS	COL11A2	TBL1XR1	SLC6A8	TGFBR2	YY1	COL9A1	RREB1	EBP	FGFR3	PIK3R1	PEX1	LARP7	RAI1	DNMT3B	FAM50A	GRIA3	KCNJ2	TWIST1	FLNA	PAX3	POLR3A	LRPPRC	NPR3	SLC2A10	SP7	SMAD3	DHODH	DVL1	NOTCH3	TP63	NDP	LOXL3	FAM20C	MYH3	PEX7	AIFM1	CRKL	FGFR1	PRKAR1A	NECTIN1	TCOF1	MGP	BBS7	PIGV	TBX22	PTH1R	EFTUD2	SMAD4	ASXL3	RUNX2	LRP2	PYCR2	SLC35D1	HSPG2	GATA1	UBE2A	GLI2	COL9A3	PQBP1	PEX12	RPS26	FLNB	CHD7	POLR1D	KCNH1	KIF1A	MLXIPL	MED12	PDE4D	TFE3	POU1F1	CCBE1	RAB3GAP2	TFAP2A	MAPK1	AGL	GPC6	ZNHIT3	TMEM165	SEC23A	SATB2	ROR2	ESCO2	PCGF2	SHH	AMMECR1	LMNA	INPPL1	SETBP1	ATRX	DLG3	MAF	ERF	ASPH	BCR	ATP6V1E1	POMGNT1	NF1	HIRA	RAB23	HDAC4	GSC	TFAP2B	POGZ	POLE	RBM8A	FOXC1	ARVCF	WNT5A	RDH11	SCARF2	CDH11	PYCR1	SF3B2	HERC1	DCHS1	POLR1B	PRMT7	SOST	COL5A1	SF3B4	MECP2	KIF22	COMT	POR	COL9A2	SIX3	RAB3GAP1	SEC24C	GJA5	LIFR	OBSL1	GORAB	MAN2B1	TMEM237	NTRK1	BMP2	SHANK3	PIGT	STAG2	PIGA	PLOD3	KIF7	ATP6V0A2	SERPINH1	COG4	ADAMTSL4	HBA2	RHOA	FAT4	GJA8	FZD2	RLIM	PIGU	DDR2	MBD5	ARID1B	JMJD1C	NONO	FOXP1	KCNE5	TONSL	HNRNPH1	PSMC3	SNRPB	ACSL4	APC	TBX4	NGF	UFD1	BUB1B	CNOT3
HP_FACIAL_GRIMACING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_GRIMACING	CREBBP	ALDH7A1	PANK2	EP300	GLI3	PNKD	LRIG2	CP	GATAD2B	ATXN8OS	PDE2A	PLPBP
HP_SMALL_FACE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_FACE	KLHL41	DNAJC30	SOX9	NSUN2	PAX9	SEMA3E	BLM	VPS37D	FBXL4	TBX1	NEB	UBB	NGLY1	NSDHL	SLC16A2	CENPT	DHX30	TRIP11	SCN3A	GRHL3	ACTA1	WNT10B	RYR1	MYH3	CHD7	POLR1C	GHR	AP4E1	POLR1D	INSR	BCOR	ATR	TCOF1	SETD2	TPM2	PAX3	RECQL4	METTL27	HYOU1	UPF3B	FGFR1	ATP7A	MAP2K2	NOG	SIX1	COL18A1	NUP85	UBE3B	NOTCH3	SLC9A6	NSD1	TNNT3	SMS	CHST3	LIG4	GTF2IRD1	NHS	B4GALT7	POLR1B	MED12	BUD23	PQBP1	CFL2	PCNT	TSPAN7	TRMT10A	DSTYK	BAZ1B	TNNI2	MTM1	ELN	KBTBD13	TRAIP	ZDHHC9	BCL7B	MLXIPL	STEEP1	SATB2	CHRNB1	TPM3	PBX1	ANTXR2	SUMO1	SLC6A8	NCF1	MICU1	STRADA	ATRIP	MSX1	PPP1R15B	NALCN	EIF4H	LRP6	PLK4	GTF2IRD2	LIMK1	FGFR3	FKBP6	LMOD3	FLNA	AXIN2	IRF6	RFC2	TUBB4A	RBBP8	TBL2	RLIM	APC2	EDA	TMEM270	FBN1	MYH7	WRN	GTF2I	EDARADD	SIN3A	TBR1	RUNX2	MYPN	B3GAT3	ERCC4	DDX11	CLIP2	WNT10A	SLC37A4	EYA1	NFIX	FMR1	LMNA	TGFA	CENPE	CENPJ	STX1A	SELENON	CEP152
HP_NARROW_FACE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_FACE	KLHL41	DNAJC30	NSUN2	SEMA3E	BLM	VPS37D	FBXL4	TBX1	NEB	NGLY1	NSDHL	SLC16A2	CENPT	TRIP11	ACTA1	RYR1	MYH3	CHD7	AP4E1	BCOR	ATR	SETD2	TPM2	PAX3	RECQL4	METTL27	HYOU1	UPF3B	ATP7A	MAP2K2	NOG	SIX1	COL18A1	NUP85	UBE3B	NOTCH3	SLC9A6	NSD1	TNNT3	SMS	LIG4	GTF2IRD1	NHS	MED12	BUD23	PQBP1	CFL2	PCNT	TSPAN7	TRMT10A	DSTYK	BAZ1B	TNNI2	MTM1	ELN	KBTBD13	TRAIP	ZDHHC9	BCL7B	MLXIPL	STEEP1	SATB2	CHRNB1	TPM3	PBX1	ANTXR2	SLC6A8	NCF1	MICU1	STRADA	ATRIP	PPP1R15B	NALCN	EIF4H	PLK4	GTF2IRD2	LIMK1	FKBP6	LMOD3	RFC2	TUBB4A	RBBP8	TBL2	RLIM	APC2	TMEM270	FBN1	MYH7	WRN	GTF2I	SIN3A	MYPN	ERCC4	CLIP2	SLC37A4	EYA1	NFIX	FMR1	LMNA	CENPE	CENPJ	STX1A	SELENON	CEP152
HP_RETROGNATHIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETROGNATHIA	UBA2	HBA1	MGAT2	GABRA3	ODC1	YARS1	RPL10	SPATA5	HS2ST1	RARB	NSDHL	FOXE3	LBR	COG5	LTBP4	NSD1	ZNF699	CTNND2	EP300	POLR1C	IPO8	MYMK	IDH1	BMP4	MEG3	RNU4ATAC	CCBE1	ORC1	ADAMTS3	NDUFB11	CANT1	TTN	DPYD	TGFB2	FAT4	COL13A1	IGF2	TRIP4	FBXL3	AP3D1	DVL3	ATPAF2	MBD5	FZD2	CDT1	BRCC3	MEGF8	ASXL1	ACTA2	EDEM3	ORC6	ARID1B	FBXW11	SEC24D	TCTN3	COX7B	GLI3	ATP6V0A2	WNT5A	MAT2A	SMOC1	COL1A2	HCCS	H4C3	OCLN	FBN1	CREB3L1	KAT6A	NARS1	TRIP11	SLC5A7	DGCR6	TAF1	IGBP1	EXOC7	PMM2	NFIX	GTF2H5	OTUD6B	MYL11	ORC4	SLC3A1	ACTG1	DSE	EXOSC5	CEP135	BIN1	CREBBP	POLR3A	TMEM70	CDC6	SLC35A3	FANCB	SMAD3	ASXL2	BCL11A	RBBP8	DVL1	MYH7	HSD17B4	LOX	MAPKAPK5	EYA1	TXNDC15	VAMP1	PSMD12	GLE1	SUZ12	FBXO31	DHCR7	MPLKIP	TGFBR1	COL1A1	TBX1	SLC6A9	ZC4H2	SMC1A	NUP88	SPEG	FARS2	ATG7	C2CD3	HYLS1	DYRK1A	ARCN1	ASXL3	EED	DLK1	PCNT	GTF2E2	KAT6B	RPL5	RTL1	HEY2	TGFB3	PUS7	TRIO	NEPRO	HDAC8	SMAD2	TPM2	FOXP1	POLR1D	FHL1	KIF7	ATP6V1A	ALG13	CCDC88A	MTM1	FRMPD4	PRDM13	PIK3C2A	PIGN	EBP	GMNN	MOGS	CTBP1	USB1	CEP55	DHCR24	SPEN	ACTA1	CEP120	MYO9A	TMEM107	PRORP	TGFBR2	LMNA	SKI	AUTS2	ROR2	CRPPA	FTO	UBE3B	KPTN	ERCC3	SLC10A7	ESS2	DGCR2	CSGALNACT1	AARS1	CENPJ	PLAGL1	FOXF1	EZH2	COL2A1	NUDT2	ERF	ASPH	SIX5	SNRPN	ZBTB24	FAM20C	MYLK	NR2F1	SLC18A3	RTTN	PRMT7	IGF1R	ADAMTS2	RPS19	TELO2	TUBA1A	H4C5	TCOF1	EIF4A3	OFD1	SETBP1	ALG11	MRPS22	FOXE1	SELENON	TASP1	TARS1	KCNK9	CEP152	ACTB	MADD	IBA57	SLC25A1	ADAMTSL2	DGCR8	PUF60	CHAT	NSMCE2	CHST3	RSPO2	DDB1	NBN	KIF15	COG6	ZMPSTE24	POLR1B	CARS1	EDN1	SRCAP	SNAP25	TNPO2	INTS1	SF3B4	ITGA8	CTU2	POLR1A	SLC25A24	NUP188	PIEZO2	COG7	SMAD4	BLM	KMT2B	DSTYK	RELN	RSRC1	PAX1	BANF1	LGI4	MIA3	ABAT	POLA1	ERCC2	SEMA5A	FUT8	RNF113A	KATNB1	EMC1	CHST14	AGRN	RYR1	INTU	PREPL	MESD	NDE1	NAA10	CDC45	HPDL	MSL3	MFAP5	CRIPT	SIM1	SIX1	HBA2	SCNM1	ALG9	WDR35	EXOSC1	SLC29A3	MYH11	CRLF1	COL3A1	HYMAI	MAMLD1	PRKG1	PRR12	SIN3A	MAGEL2	OTUD5	B3GAT3	GAD1	GLDN	MED25	HNRNPH1	ZNHIT3	SYT2	DIS3L2	THOC6	FDFT1	BNC2	ELN	CA2	GBA1	AMER1	WBP11	ARID2	ARNT2
HP_COARSE_FACIAL_FEATURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COARSE_FACIAL_FEATURES	PIGN	EXTL3	SLC26A4	ARSB	KAT6B	VPS37D	LAMTOR2	NKX2-5	NKX2-1	CUL4B	HS2ST1	THPO	RBMX	NF1	GPC4	IDS	TSHR	GNE	ZNF699	AIP	FLNA	NANS	COL2A1	PIGY	SMARCB1	ABCA5	KRAS	SMARCE1	SETD2	IDUA	EHMT1	SLCO2A1	GNPTAB	PIGV	WAC	METTL27	FAR1	AP4B1	GLB1	NAGLU	ARID1B	GLA	HPGD	TCF4	TBC1D7	WDR26	SUMF1	SMARCA4	ALG14	KCNN3	CCDC47	MMP2	GTF2IRD1	PUS3	AFF4	GNS	WDR81	CHD4	CLCN4	CNP	SNX14	GTF2H5	DYM	AP3B1	VPS33A	MAP2K2	MAPK1	ACTG1	PIGQ	NRCAM	BCL7B	MLXIPL	PPP1R21	ANTXR2	RPS6KA3	GJA1	NCF1	MYSM1	AIFM1	FBXO31	MEN1	EXT2	MPLKIP	NAGA	RIN2	STAT3	SH3PXD2B	PIGF	NEU1	C12orf57	FKBP6	AGA	AIMP1	NMNAT1	HRAS	RFC2	HNRNPK	GTF2E2	TBL2	PTCH1	APC2	ARID1A	PACS2	IGF2	BAP1	GTF2I	FHL1	KCNH1	MCOLN1	SUFU	ALG13	CTSA	TMEM251	PDE4D	TFE3	SGSH	CNTNAP2	PLAA	PIK3C2A	ATP6V1B2	SMARCC2	CLIP2	FMR1	MPL	SPEN	CEP120	HGSNAT	ARSK	KCNQ1	KLHL15	SMARCD1	DPF2	STX1A	ZNF148	MAN2B1	SLC17A5	FTO	DNAJC30	SVBP	TBC1D24	PTCH2	ERCC3	ARX	SETBP1	PAX8	TMEM147	SPTBN1	PIGB	MED12	DENND5A	ADNP	ACER3	GNPTG	AP4E1	HDAC4	ABCC9	H4C5	FUCA1	BRAF	CDKN1C	MMP14	SOX4	SPRED2	AP4M1	BRCA1	TARS1	ACTB	NSD1	INSR	DNMT3A	PIGA	SLC35C1	AP1S2	AP4S1	KCNJ8	GPC3	SOST	LTBP1	KIF15	CARS1	BUD23	ATRX	TNPO2	PGAP2	HEXB	BAZ1B	NOTCH2	ELN	PHF6	ARID2	SLC35A2	ERCC2	RNF113A	GPR101	EIF4H	L1CAM	XYLT1	PIGW	NAA10	GTF2IRD2	LIMK1	MAP3K7	PGAP3	MCTP2	TMEM53	TBC1D2B	TBCK	BSCL2	PIGO	SOX11	TMEM270	COQ4	MBD5	MRPS34	GUSB	CLIC2	GALNS	MAGEL2	OTUD5	MAP2K1	OFD1	PIGS	FOXE1	ZSWIM6	BCORL1	KCNQ1OT1	PIGL	PPP3CA	P4HTM
HP_FACIAL_EDEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_EDEMA	DNAJC30	KPTN	VPS37D	DUX4	POU1F1	KNG1	SPTBN1	CAMTA1	ANLN	COL5A2	TSHB	DHX30	F12	ADAMTS3	EPHB4	LHX4	LTBP4	KCTD1	SLC29A3	TGFBI	TG	GNPTAB	HAVCR2	SMCHD1	RIN2	POMP	COL4A3	TBC1D8B	METTL27	FOXG1	FRMD4A	SOX18	NUP93	SERPING1	PLG	PLCE1	ACTB	MYOF	AIP	COQ8B	NPHS2	SLC35C1	GTF2IRD1	ARHGDIA	TNFRSF1A	RECQL4	PTPRO	KAT6A	PSMB9	WT1	BUD23	SUMF1	SLC5A5	SNX14	ACTG1	CTLA4	CRB2	BAZ1B	MED12L	HS3ST6	ELN	NUP37	IGSF3	XPNPEP2	BCL7B	TPO	ANGPT1	MLXIPL	MYO1E	HESX1	EMP2	NCF1	PRTN3	GAPVD1	PIEZO1	IYD	NUP85	MAGI2	INF2	EIF4H	SHANK3	APOL1	PEX5	PSMB4	ANKFY1	NUP205	GTF2IRD2	LIMK1	KNSTRN	NUP107	DNMT3B	HLA-DPB1	PIK3CD	FKBP6	NPHS1	RFC2	DUOXA2	PSPH	TBL2	CD2AP	TMEM270	PAX2	LHX3	ADAMTS2	CDH11	MYD88	GTF2I	HLA-DPA1	ACTN4	KIF1A	NUP160	TRPC6	DUOX2	PROP1	POU4F1	CCBE1	COL1A1	ANAPC1	CLIP2	NUP133	GPR101	NEU1	COL5A1	PTPN22	PEX2	FRG1	GSN	ANTXR1	ZNHIT3	ALB	ARHGAP24	STX1A	DAAM2
HP_BROAD_FACE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_FACE	UBE2A	TGFB3	PTCH2	RAI1	ZNF711	HDAC4	NFIA	SNX14	SUFU	TBL1XR1	IDUA	AGA	PTCH1	PDE4D	BRAT1	FLNB	FLNA
HP_EPICANTHUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPICANTHUS	WDR4	CHRNG	MECP2	SEMA3E	FANCB	VPS37D	IFT122	YARS1	TMCO1	NSD2	FBXL4	CTCF	HS2ST1	IFT43	NSDHL	CPLANE1	UBE2T	HECW2	HNRNPU	ZBTB20	UGDH	GPC4	RIT1	GPT2	GNE	CASZ1	EP300	KIAA0753	TCF3	PIGY	FAT4	DYNC2I1	ADAMTS3	PTPN11	KRAS	GNPTAB	RPS24	CAMK2A	PRKAR1A	PIGL	IFT140	FZD2	WDR35	MEGF8	SPOP	EDEM3	VPS51	PDHX	COL18A1	DHCR7	HSPG2	RPS27	ATP6V0A2	RSPRY1	GP1BB	LONP1	ADA2	LIG4	RPS28	ZEB2	MED12	GJA1	RREB1	KAT6A	ALG3	NCDN	DNMT3B	FANCC	SLC26A2	TAF1	PHIP	CD96	VPS33A	HOXB1	ZNF407	FGF20	PRDM13	SLC3A1	PEX6	PALB2	ZBTB18	HK1	RPS29	CREBBP	CDCA7	DDR2	LZTR1	IGHM	DYNC2H1	TOPORS	MLXIPL	BRCA2	ASXL2	DVL1	HSD17B4	RPL35A	RPS6KA3	TRIP13	PIGN	B9D2	PIEZO1	PIEZO2	DPH1	AP1G1	RALA	POU3F3	AGO2	PIK3R1	COL1A1	PTCH1	RIN2	KIF11	TBX1	PRDM16	MACF1	NF1	QARS1	MKS1	TCF20	COLEC11	FKBP6	MAN1B1	KIAA0586	RAD51C	ASXL3	FGFR1	HRAS	PQBP1	KMT2A	DPH5	GTF2E2	FOXL2	ZFHX4	RTL1	CSPP1	GJC2	KIF7	PEX3	TRIO	ADAMTS2	PDPN	MAD2L2	SCN4A	ATN1	EBF3	FANCA	KIF1A	WAC	SETD1A	BCAS3	GATAD2B	ALG2	RECQL4	ATP6V1B2	PEX1	CLIP2	MPC1	MINPP1	TPRKB	BRIP1	SUPT16H	FIG4	TUBB	KANSL1	XRCC4	MAP1B	DHCR24	SPEN	TRRAP	GPC6	RFWD3	ZNHIT3	FLT4	DPF2	ROR2	ZNF148	WT1	PPP1CB	SC5D	SRY	PDE6D	SVBP	SOX9	PRKAR1B	LETM1	MYCN	CPLX1	DHX16	BUB3	TMEM147	RERE	EXT2	CUL4B	DHX30	PAK2	BLNK	NAA20	GABRD	CNOT1	RET	SOX4	ZBTB24	CHD7	NBAS	KCTD1	RPL26	CHAMP1	ABCC9	PAFAH1B1	COLEC10	FOXG1	PNPLA6	SPRED2	SYT1	ALG12	MAP2K2	MARS1	OFD1	BRCA1	UBE3B	HIC1	TASP1	CBL	EFTUD2	NOTCH3	ACTB	INPP5E	CDK10	MADD	WNT5A	MPLKIP	ALX3	RAF1	REV3L	DDB1	PEX5	RB1	GPC3	PAH	UQCC2	SRCAP	TOE1	RPS19	HELLS	WNT9B	ATRX	PRMT7	WDR37	CDK13	MMP23B	PLXND1	TRMT10A	COMT	ASXL1	BAZ1B	RPS15A	RMRP	ELN	DVL3	SLC35A2	ZMIZ1	NDST1	SEC24C	TRAF7	RPS23	PBX1	KDM6A	MICU1	RIC1	MAN2B1	FLI1	DCHS1	PEX16	SON	CHRNA7	EIF4H	SHANK3	PREPL	STAG2	XYLT1	NAA10	HUWE1	ERCC4	SALL4	MAPRE2	LRRC8A	TMEM53	HBA2	NXN	TCTN3	GJA8	PIGO	UNC80	ZNF462	TLK2	AHI1	COQ4	EZH2	BRAF	SPART	MASP1	AUTS2	NONO	AFF2	CNTNAP1	MYH3	THOC6	SNRPB	PTEN	MED25	COL5A1	TBX4	RPS7	AMER1	FDFT1	TRAPPC9	BUB1	VDR	COL25A1	EIF5A	ADAT3	HBA1	C12orf4	RPL10	CLCN3	POLRMT	SHOC2	COL3A1	COL5A2	SOX5	MYMX	CTNND2	RPS26	MYMK	KMT5B	NANS	MAP3K7	MEG3	CSF1R	RYR1	CCBE1	RHOBTB2	CTBP1	MTSS2	PIGV	GATA1	METTL27	CLCN7	SKI	PHF21A	GREB1L	FGFRL1	THUMPD1	TONSL	COL1A2	GATA2	GTF2IRD1	ABCA5	SPRED1	BUB1B	PEX19	SMARCA2	CEP57	IFT80	SMPD4	GLIS3	CHD4	UBE3A	RPL15	FGFR3	PMM2	GTF2H5	PRPS1	AP3B1	RPL11	WNT7A	SIX2	MAPK1	HIBCH	ACTG1	BCL11B	CHRND	PLOD1	EEF1A2	MAB21L2	SOX18	BCL7B	DMXL2	LMBRD1	BCL11A	RPL27	PPP1R21	TRIP12	NCF1	DOCK3	TWIST1	PTCH2	PPP1R15B	DLX4	LUZP1	PURA	SIN3A	TBX22	EED	DLK1	WDR19	RFC2	COG8	FANCD2	RPS10	BRAT1	DDX6	TBL2	PEX13	PUS7	WDR73	TUBB3	SOS1	ACOX1	NFIX	GTF2I	SNX14	KCNH1	DYNC2I2	FANCI	BMPER	PIGG	CCDC88A	KCNAB2	TFE3	DDX11	BPTF	DEAF1	PIK3C2A	UGP2	SIAH1	ZMYM2	BICRA	CHD5	PEX2	RPL18	NELFA	KDM6B	EPG5	XRCC2	PRORP	RPL31	STX1A	CSNK2A1	RPL5	EXOSC9	SLC17A5	DNAJC30	FIBP	TBC1D24	ERCC3	NSUN2	FKBP14	TBX2	ZNF292	GATA4	CDC42BPB	OSGEP	VPS53	ZNF469	PEX11B	NR2F1	TWIST2	KAT8	HIRA	PPP2CA	PCDHGC4	RAB23	H4C5	FGFR2	PRKCZ	PEX12	DNMT3A	ALDH6A1	B4GALT7	FLNA	H3-3A	TARS1	ALDOA	TSR2	IFT52	NRAS	ARVCF	MRPL12	ADAMTSL2	FOCAD	PUF60	FGD1	ALX1	GDF11	KCNJ8	PEX10	FANCF	SUFU	COG6	CARS1	BUD23	CD79B	DNAJC21	INTS1	PGAP2	CERT1	SHROOM4	NUP188	KMT2B	HNRNPH2	NOTCH2	MAP2K1	RPS20	RAB3GAP2	CHD3	ERCC2	SEMA5A	PPP1R12A	DYNC2LI1	RNF113A	GJA5	PIK3CA	PEX14	FANCM	TMEM237	SLX4	UBE4B	PDE4D	BMP2	PIGW	GTF2IRD2	LIMK1	FANCL	MSL3	RPS17	PGAP3	CASK	MED13L	PPP2R3C	ANK1	TMEM216	TBCK	SCNM1	ALG9	SLC25A24	PIGU	TMEM270	YWHAE	CHRNA1	ARID1B	ITGA8	COA3	COL11A1	RPL35	JMJD1C	FANCE	IGLL1	FANCG	ALX4	DIS3L2	FAM149B1	SEPTIN9	PEX26	GFRA1	RAD51	KAT6B	UFD1	ARID2	CD79A
HP_ABNORMALITY_OF_THE_PHILTRUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PHILTRUM	VPS37D	TMCO1	BMP1	CTCF	HS2ST1	PDHA1	LTBP4	GNE	ZNF699	PURA	PIGY	KCNJ6	SMARCB1	ADAMTS3	GNPTAB	FAR1	AP3D1	FZD2	BRCC3	DPYSL5	MEGF8	SPOP	NSD2	EDEM3	VPS51	COX7B	TCTN3	GP1BB	MED13	DISP1	MYH8	ATP6V1E1	TAF8	CHSY1	ZEB2	ANKRD11	CCDC8	DYRK1A	OBSL1	PQBP1	UNC80	LARP7	PTPRF	TAF1	ARID1B	HOXB1	ZBTB18	DSE	AP2M1	PTH1R	CREBBP	NRCAM	POLR3A	TNNI2	SATB2	H3-3B	LMNB1	DVL1	HSD17B4	TRPS1	PIGN	KAT6B	RIN2	KIF11	STAG2	PPP2R5D	MKS1	APC	CLTC	FKBP6	FLII	TUBGCP2	KMT2A	HSPG2	KDM5C	ARID1A	GLI2	COG1	BAP1	TRIO	KLHL41	BRPF1	CHD8	ATN1	EBF3	RAI1	NEK9	EIF2S3	GNB1	BCAS3	POU4F1	LTBP3	MPC1	MOCS1	CDH2	COLEC11	MAP1B	USB1	SPEN	TRRAP	EXT2	PPP1CB	FGFR1	DPM2	RAD21	LETM1	EXOSC2	DLL3	PIGB	CAMTA1	MAF	CUL4B	ERMARD	EZH2	COL2A1	IREB2	DHX30	GABRD	CHD2	STXBP1	ADNP	NBAS	GALNT2	IGF1R	UBR7	CHAMP1	ABCC9	ALG11	CTNNB1	FOXG1	SYT1	TCF4	UBE3B	CBL	EFTUD2	NOTCH3	ACTB	MADD	WNT5A	MEG3	CDH11	TTC5	SIX3	ADAMTSL1	PAH	SRCAP	TBCE	PRMT7	TNPO2	WDR37	TBX1	SLC6A17	VPS13B	MAPK8IP3	TRMT10A	COG7	VAC14	POLR3GL	BAZ1B	PRKACA	DVL3	SLC35A2	ZMIZ1	SEC24C	NOTCH2	EP300	KCNJ11	CASK	FLI1	SON	EIF4H	H4C11	CKAP2L	SMC1A	MCTP2	MAPRE2	C12orf57	TMEM53	PUS1	NXN	GJA8	PIGO	PAM16	METTL5	SOX11	ZNF462	TCF3	LRRC32	KCNH1	AP4E1	PRDX1	RUNX2	MAGEL2	HRAS	FLCN	MED25	SYNE1	SYNGAP1	NRAS	PHIP	ATP7A	CNOT3	BRD4	ERCC6	WARS2	WDR4	KCNK4	MMACHC	SHOC2	TRIP11	B3GALT6	QRICH1	NF1	NSD1	SUFU	MAP3K7	AVP	BCOR	CTBP1	METTL27	SATB1	FBN1	AP4B1	FGF3	WNT4	INPPL1	PHF21A	FGFRL1	SMOC1	MYOD1	SHMT2	OSTM1	BCL11B	ARX	IFT80	SMPD4	GLIS3	XYLT2	CPLX1	PMM2	LEMD2	SNX14	GRIA3	AP3B1	OTUD6B	MAP2K2	TBC1D20	SNAI2	BCL7B	STEEP1	IFT81	SEC23A	PPP1R21	NCF1	MYH3	SUZ12	CRKL	RAB3GAP2	PPP1R15B	RERE	SLC45A1	PIGV	SIN3A	KIDINS220	SMAD4	COL11A1	TGFB3	OPHN1	MUSK	HDAC8	SHH	IFIH1	GPC6	TUBB	PIGG	SMG8	MLXIPL	RNU4ATAC	TAOK1	ABCC8	PTCH1	MARS2	UGP2	SMARCC2	CRTAP	MOCS2	MAPK1	CHD5	ARSK	FGF8	ROR2	SLC26A2	TBC1D24	ADSL	AARS1	PLAA	B4GALT1	NOVA2	PDCD6IP	NLRP1	TWIST2	ACER3	HIRA	PPP2CA	KIT	TFAP2B	PRKCZ	SETBP1	BRAF	ANO1	CAMK2G	SETD5	TAF6	ALDH6A1	SOX4	MYO18B	NOG	NSRP1	DLK1	H3-3A	DNMT3A	ARVCF	PUF60	ALG9	RPL10	FGD1	SLC35C1	KCNJ8	BUD23	NFIX	NUP107	CRLF1	ACTA1	PGAP2	CERT1	NEXMIF	SLC25A24	CDC6	DPM1	MEF2C	PARS2	RAB3GAP1	PPP1R12A	KDF1	GJA5	TBL1XR1	CHST14	UBE2A	TDGF1	UBE4B	ALG8	PIGW	PYCR1	HPDL	ANKRD17	ATP6V0A2	DHPS	PPP2R3C	EPB41L1	DPF2	POR	WDR35	COL3A1	PIGU	USP9X	RNF2	DDX59	EMC1	ORC4	JMJD1C	RIPPLY2	B3GAT3	GAD1	MAP2K1	AP4S1	ALX4	AP1S2	FGFR2	SMS	NONO	CSNK2B	TBCK	SC5D	PCLO	CHRNG	IARS2	AASS	CUL7	HES7	KIAA0753	DEAF1	HNRNPU	UGDH	RTL1	CASZ1	IDH1	DYNC2I1	CANT1	KRAS	SMARCE1	EXTL3	DPYD	PIGL	IFT140	ATP6V1A	SPECC1L	TRIM8	DHCR7	PEX26	SMARCA4	TRAPPC4	TET3	EXT1	MED12	RREB1	NALCN	KAT6A	NKAP	BMP2	EXOC7	TSPAN7	KDM5B	SCN1A	YARS2	MED12L	ALG12	ZDHHC9	GJA1	DYNC2H1	MTX2	NARS2	NSUN2	PSMD12	AP1G1	RALA	NECTIN1	PRDM16	GMPPA	SH3PXD2B	PACS1	MAN1B1	SKIC3	PDPN	CDC42	GATAD2B	PDE4D	ATP6V1B2	CLIP2	FIG4	PRKDC	ZC4H2	PTEN	MESP2	ACTG1	SMARCD1	MID1	ZNF148	ZIC2	SOX9	CCNK	CDKL5	SLC9A7	KDM4B	TMEM147	CSGALNACT1	SPTBN1	TFAP2A	FREM1	KIF7	COL11A2	NAA20	CNOT1	RTTN	GNB2	ARHGEF2	POGZ	SPRED2	TASP1	EXOC2	KCNK9	CDK10	LTBP1	CHST3	TOE1	B3GLCT	NFIB	ATRX	PIGT	CDK13	CCDC22	MMP23B	FLNA	PRKACB	COMT	BPTF	AFF4	ELN	ERCC1	KIFBP	CLCF1	PBX1	IFT57	NEB	RIC1	ERLIN2	FOXH1	TPM3	XYLT1	NAA10	HUWE1	TENM3	EXOSC1	LFNG	OCRL	SMARCA2	ZPR1	AUTS2	PLPBP	TRAPPC9	THOC6	SNRPB	ANTXR1	SHANK3	PPP3CA	ITCH	TGIF1	CLCN3	AFF3	MYMX	HIVEP2	HDAC6	PAX3	CCBE1	RHOBTB2	FAT4	RAB18	SKI	MTOR	THUMPD1	SUMF1	GTF2IRD1	OCLN	H4C9	NODAL	CLCN6	POC1A	TMEM94	PIGQ	TMEM70	MRPS28	MAB21L2	MEIS2	SLC2A10	TRIP12	MYMK	FBXO11	IQSEC2	BRF1	MGP	LUZP1	ATG7	GLB1	TXNL4A	CD96	RFC2	PYCR2	BRAT1	DDX6	TBL2	PUS7	DOCK7	GTF2I	TAB2	DYNC2I2	KCNAB2	RNF135	MID2	NELFA	DLL1	EPG5	ADAMTSL2	STX1A	SLC2A1	DNAJC30	ZNF292	CDC42BPB	PITX2	BCR	NIPBL	DENND5A	PCDHGC4	KARS1	H4C5	OFD1	ALG13	WDR19	LMX1B	UPF3B	RAC3	AP4M1	TOR1A	METTL23	SMC3	PRIM1	NBN	ASH1L	LRP4	KIF15	IL6ST	EED	INTS1	HNRNPH2	IRX5	TWIST1	PKDCC	ARID2	FOXL2	PIK3CA	TMEM237	GTF2IRD2	LIMK1	MSL3	DHX37	PGAP3	CDON	TMEM270	WLS	CLIC2	SLC35A1	TBR1	MAB21L1	GAS1	PIEZO2	RYR1	PIGS	DIS3L2	PSMC3	SLC6A1	UFD1	BUB1B	TALDO1
HP_BROAD_PHILTRUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_PHILTRUM	ARID2	ARID1A	H3-3A	KCNK9	SMARCA2	NEXMIF	TMCO1	ALX4	TBL1XR1	SPTBN1	SNX14	SMARCA4	MAF	ERMARD	CDH11	CHD2	PIGW	SMARCC2	PIGY	FGD1	SMARCB1	COLEC11	SYNGAP1	PGAP2	PGAP3	SLC6A1	ARID1B	ANO1	SCN1A	PIGV	DPF2	SMARCD1	PIGO	WDR35	AP2M1	SOX4	RAC3	PIGL	SMARCE1	SOX11	SLC2A1	ZNF462
HP_ABNORMALITY_OF_THE_FOREHEAD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_FOREHEAD	MGP	ODC1	VPS37D	LRP4	TBX1	BMP1	HS6ST2	IL11RA	CTCF	HS2ST1	CPLANE1	RPGRIP1	LBR	KYNU	GNE	ZNF699	GABRA5	KCNJ6	SMARCB1	RNU4ATAC	PTPN11	PGAP1	FZD2	MEGF8	PEX14	SPOP	TCF12	TRPV4	RNF113A	ERF	PEX10	SETD2	SEC24D	ADA2	CHD1	KCNN3	TAPT1	WAC	RPS6KA3	IARS2	CCDC8	CAMKMT	STAMBP	LARP7	NFIX	DICER1	ARID1B	SLC3A1	STIM1	ANKLE2	KRAS	RPS29	NRCAM	POLR3A	TOPORS	SP7	BRCA2	H3-3B	ERCC5	JAG1	LMNB1	DVL1	HSD17B4	RPL35A	NIPA1	PIGN	FGFR3	YWHAG	TWIST1	GDF1	INTS8	TCF20	APC	NKX2-5	BPNT2	EDARADD	FKBP6	KIF7	FLII	VPS33B	NCAPG2	ATAD3A	KATNB1	TUBGCP2	KMT2A	IFT43	KDM5C	IGBP1	PEX3	BAP1	BRPF1	ATN1	SOX5	ACP5	RAI1	GJA5	FLNA	POU4F1	KCNJ11	RECQL4	ARX	LARS1	PIK3R1	ASNS	MOCS1	CDH2	ZNF335	CAVIN1	TRRAP	SCYL2	GABRA2	P4HB	EXT2	FBN1	PPP1CB	SLC1A3	FGFR1	GATA6	PCGF2	CAMTA1	NGLY1	ERMARD	EZH2	COL2A1	GABRD	STXBP1	PTDSS1	EDA2R	SLC25A24	GALNT2	RPL26	SCN3A	NBN	MEIS2	TCTN3	TCOF1	FUCA1	PAFAH1B1	ALG11	FOXG1	FRMD4A	SYT1	TCF4	FARSB	HIC1	KIDINS220	TSEN2	CBL	ACTB	SLC25A1	WNT5A	ALX3	TTC5	B3GALT6	FLT4	CDKL5	PAH	SRCAP	TNPO2	PURA	WDR37	SUFU	CTU2	HCN1	ASXL1	CCDC22	DVL3	FGFR2	LZTR1	NOTCH2	EP300	MAN2B1	FLI1	ETFDH	EIF4H	CKAP2L	TTI2	CPOX	SNX10	SOX6	C12orf57	TMEM53	DYRK1A	KDR	NXN	HOXD13	FAM111A	SOX11	UNC80	BRAF	IGF2	KCNH1	AP4E1	ARV1	PEX1	MAGEL2	TRIO	WASHC4	PITX2	FZR1	SYNJ1	PEPD	BCORL1	TRAPPC9	ATIC	NRAS	PHIP	CNOT3	P4HTM	VPS35L	PPM1D	SH2B1	HBA1	CASK	WDR4	MMACHC	SCN8A	TRIP11	NF1	MKRN3	HMGA2	NECAP1	KMT5B	TRAPPC10	MEG3	RYR1	GPKOW	CTBP1	MTSS2	AMMECR1	RRAS2	METTL27	ATP1A3	SYNGAP1	CDK5RAP2	SATB1	AP4B1	INPPL1	TONSL	SMOC1	GJB2	CCDC47	WDR62	H19	EDA	SLC25A22	MYOD1	BUB1B	NARS1	FGF12	GNAO1	CPLX1	ADK	SLC5A7	PMM2	LEMD2	SNX14	SIX2	STEEP1	SMAD3	IFT81	GON7	NCF1	MYH3	SUZ12	FBXO31	PTCH2	PPP1R15B	RERE	TMEM216	ARCN1	WDR19	KDM1A	KAT6B	TMCO1	PEX13	HDAC8	PIK3R2	IFIH1	GPC6	FANCI	AP1S2	SMG8	ATP6AP2	MLXIPL	TAOK1	TUBGCP6	B9D1	HERC2	UGP2	PEX11B	PHGDH	THOC6	MOCS2	TIMM50	SKI	ROR2	RAB3GAP2	SLC26A2	HNRNPK	ADSL	GATA4	SCN1B	KCNA2	LRP5	NOVA2	SNRPN	VPS53	STRADA	SLC18A3	GPC4	PRMT7	KPTN	PPP2CA	SALL4	EDAR	CACNA1C	HDAC6	SETD5	TAF6	PPP2R1A	ADAT3	BRCA1	SKIC2	COL11A1	CEP152	ALX1	KCNJ8	FANCF	TAFAZZIN	NUP107	WWOX	SOST	NEXMIF	CDC6	PEX2	KMT2B	KCNB1	DPM1	PARS2	MAP2K1	GNPTAB	CDKN1C	CHD3	SH3PXD2B	MKS1	LIFR	UBE2A	FANCM	NSD1	ZBTB18	UBE4B	PEX26	PIGA	ANKRD17	RPS17	EPB41L1	NPR2	NAA10	MSX2	DPF2	POR	GPC3	PPP2R5D	NLRP3	PIGU	USP9X	DDX59	EMC1	CYFIP2	ATP6V0A2	SLC34A3	B3GAT3	FANCE	AP4S1	EFNB1	CDK6	FAM149B1	SLC25A19	SPTB	SEPSECS	SC5D	COX5A	MEF2C	CTSK	FANCB	NSD2	SASS6	HES7	DEAF1	DNM1	GPT2	AIP	CASZ1	CACNA2D1	KIAA0753	IPO8	IDH1	DYNC2I1	WASHC5	EXTL3	RPS24	IFT140	PEX5	CTNS	COL18A1	SPECC1L	RPS27	PLAG1	TBC1D7	RAB39B	GLI3	TBL1XR1	TET3	MMP2	PLK4	BMP2	ACTL6B	TAF1	RIT1	SCN1A	HSPG2	MED12L	ASPM	GJA1	DYNC2H1	ASXL2	MTX2	NARS2	SLC6A8	B9D2	CEP290	AP1G1	YY1	RALA	AGO2	SRC	PRDM16	CTNND1	KNSTRN	STAT3	MAN1B1	RAD51C	TBCE	PCNT	KAT6A	PTCH1	SKIC3	RTL1	ETFB	CENPJ	CYP27B1	DLX3	FOXP1	FANCA	ATR	SMARCD1	MED13L	FRMPD4	PDE4D	PRKDC	XRCC4	NCAPD3	ZC4H2	NEU1	PTEN	MESP2	MID1	CIT	PEX16	ZNF148	ZIC2	TAF13	SOX9	SLC9A7	KDM4B	SPTBN1	NUDT2	KMT2E	PWRN1	RTTN	ACAN	PWAR1	GMNN	ATP7A	UPF3B	SPRED2	POLE	OFD1	EXOC2	MBTPS1	CHAT	COG4	SLC35C1	PIGY	NIPA2	ERCC6	CENPE	NFIA	ADARB1	NFIB	PIGT	AARS1	MMP23B	TRAK1	ATP1A2	AFF4	MTM1	ELN	ANKRD11	HBB	CDK8	ATP6AP1	PSAT1	IFT57	PHF8	RSPO2	CHRNA7	FLNB	ALX4	AP1S1	ERCC4	BSCL2	HBA2	RNF125	EXOSC1	LFNG	OCRL	GYPC	CLCN7	MBD5	SMARCA2	ALDH18A1	RRP7A	CELF2	ATP6V1B2	SMAD2	LARGE1	GPR101	ACOX1	COL9A2	RPS7	KCNQ1OT1	ANTXR1	RSPRY1	COL25A1	EIF5A	TP53RK	CLCN3	COG5	HIVEP2	FOS	CCBE1	MCM7	PLCH1	RNU12	TMEM107	FAT4	SPEN	SMG9	AP3B2	PREPL	CNKSR2	MTOR	NKX2-6	THUMPD1	NDE1	OCLN	H4C9	FREM1	WDR35	CEP57	EBP	TRPS1	RPL15	PRPS1	RPL11	FBN2	CDC42	LRPPRC	MAB21L2	TECPR2	RARS2	RBBP8	VPS13B	SLC38A3	GTPBP2	LETM1	DHCR7	FBXO11	DLK1	LUZP1	PIK3CD	GLB1	EED	ABL1	RPS10	PYCR2	EFEMP2	TRIM37	POMT1	SPTA1	DOCK7	GTF2I	TAB2	PLA2G6	GHR	GPAA1	PROP1	SLC25A12	RALGAPA1	PEX12	PIK3C2A	PRKD1	RNF135	MYO9A	KCNQ1	SEC23A	SLC2A1	CTSD	ZNF292	CDC42BPB	GNPAT	IER3IP1	ERCC2	ZIC1	LIG4	TSEN15	LMX1B	DALRD3	AP4M1	MADD	SOX2	IFT52	MAN2C1	CHST3	ITCH	ZBTB7A	HDAC4	ASH1L	TRAF6	GABRG2	IRX5	GJB6	PKDCC	ARID2	STT3A	SON	OBSL1	COL1A2	DPH2	NAB2	GRIN2D	B3GLCT	GTF2IRD2	PHEX	LIMK1	CRIPT	SIM1	SCNM1	GRIN1	TMEM270	YWHAE	KCNK9	WLS	METTL5	GABBR2	SIN3A	TSEN54	UBA5	SLC6A1	AGPAT2	RBM8A	AMPD2	LRP2	MN1	POU1F1	CUL4B	EEF1A2	HECW2	PDHA1	ZBTB20	LTBP4	STAT6	ETFA	BMP4	ASXL3	ADAMTS3	TCIRG1	SPATA5L1	COX7B	SLC25A46	RPS28	NTRK2	MBTPS2	ZEB2	B4GALT7	VPS33A	HOXB1	KCNJ2	PALB2	TRAPPC14	AP2M1	HK1	PTH1R	CREBBP	CACNA1A	TRIP13	GLE1	DPH1	VIPAS39	MEN1	RIN2	KIF11	STAG2	PIGQ	SCUBE3	IGF1	NPHP3	RUNX2	DPH5	CSPP1	ARID1A	LHX3	ZNF526	MAD2L2	EBF3	PRDM13	COL11A2	FMR1	BRIP1	SUPT16H	COLEC11	MAP1B	USB1	DHCR24	PEX6	SIK1	SATB2	PTHLH	CRPPA	DPM2	RAD21	EXOSC2	DLL3	SNORD115-1	PIGB	PPM1B	MAF	DHX30	SPRTN	CHD2	ADNP	NBAS	UBR7	GRM7	ABCC9	POLR1D	INTU	RNF13	NOTCH3	GRB10	GK	CDH11	ADAMTSL1	FKRP	MCPH1	TRMT10A	COG7	VAC14	BAZ1B	RPS15A	IFT122	KNL1	RBL2	MFSD2A	KIF14	FKTN	SMC1A	ATP6V1A	SLC13A5	GJA8	KLF1	PSPH	PAM16	ZNF462	CARS1	PRDX1	ZFPM2	HRAS	HNRNPH1	SYT2	FLCN	CEP63	CCNQ	CAV1	RAF1	BUB1	AMER1	FANCC	ARNT2	RPGRIP1L	BRD4	KCNK4	BGN	KCNJ5	RNPC3	KIFBP	POLR1C	RAB18	NANS	TCTN2	COL27A1	FGF13	GATA1	HYOU1	ADAM22	WNT4	TGFB1	THOC2	CDK5	FGFRL1	DHDDS	KATNIP	CPT2	PAK3	SHOC2	PIK3CA	MRAS	IFT80	SMPD4	MAP2K2	EXOSC5	FH	CEP135	BCL7B	ZNF711	PPP1R21	MAPKAPK5	PEX19	PEX7	DLX4	PPP3CA	MED27	OPHN1	WDR73	SOS1	COPB2	GABRB2	PIGG	CCDC88A	ABCC8	DOCK6	DDX11	SMARCC2	TTC7A	BICRA	CHD5	RPL18	XRCC2	RPL31	HEATR3	ALPL	TBC1D24	NSUN2	IKBKG	TBX2	OSGEP	PDCD6IP	BMPR1A	EPB41	DTYMK	ACER3	PRKCZ	SETBP1	DNMT3A	CAMK2G	ALDH6A1	POMT2	SOX4	MYO18B	NSRP1	FOXC1	H3-3A	INSR	EMG1	FOCAD	PUF60	ALG9	RPL10	ORC1	FGD1	DCHS1	BUD23	SNAP25	NUP188	GCK	RELN	CLTC	RPS20	STIL	CWC27	HESX1	SIX6	CHST14	LMBRD2	CCND2	TTC26	PYCR1	ORAI1	LEMD3	DYNC1I2	ERCC1	ACTG2	PPP2R3C	DLX5	SERPINH1	TBCK	TBX15	MDH1	DDR2	IL2RA	NTNG2	NEUROD2	IDUA	RIPPLY2	PUM1	FANCG	ZSWIM6	CC2D2A	NONO	D2HGDH	WBP11	MAP3K7	UBA2	SZT2	CUL7	UBE2T	HNRNPU	PHC1	CDK19	CNOT1	TUBG1	SMARCE1	DPYD	PDX1	PIGK	PIGL	SHPK	TWIST2	SMARCA4	TRAPPC4	MED12	NALCN	KCNJ1	RRAS	SCN2A	SUOX	KDM5B	TCTN1	ZDHHC9	NCAPH	PAK1	SMO	GMPPA	QARS1	PACS1	DMXL2	KIAA0586	LAGE3	APC2	ZFHX4	PDPN	SETD1A	GATAD2B	CLIP2	COASY	GATA5	KANSL1	RFWD3	H1-4	CYP2R1	PDE6D	SVBP	PRKAR1B	CCNK	BUB3	TMEM147	CSGALNACT1	NAA20	GNB2	TUBGCP4	DSE	FBLN5	TASP1	TMEM67	TBC1D20	INPP5E	DDB1	AKT3	TSEN34	TOE1	RPS19	ATRX	UNC45A	PRKACB	PDGFRB	RMRP	FUT8	LRP1	SLC16A2	HUWE1	RLIM	PIGP	RAB3GAP1	ZPR1	ZNHIT3	POGZ	NHEJ1	TBX4	VARS1	VDR	ITGA3	EIF2S3	MPDZ	TXNDC15	RPS26	CACNA1B	COL13A1	CDH1	SLC12A2	SIK3	SLC39A13	GTF2IRD1	TENT5A	GNS	KREMEN1	NUP133	POC1A	SUMF1	FAM50A	MAPK1	ACTG1	CITED2	NFKBIA	MAPRE2	RPL27	TRIM8	TRIP12	VAMP1	AIFM1	IQSEC2	TBCD	PPARG	TMEM237	RFC2	FANCD2	DDX6	TBL2	PPFIBP1	PUS7	NEPRO	EMC10	DYNC2I2	KCNAB2	TFAP2A	GH1	NELFA	KDM6B	RBM10	EPG5	STX1A	RPL5	KCNA1	DNAJC30	NPAP1	FKBP14	SLC12A6	DYNC1H1	LHX4	FIG4	DENND5A	MITF	PCDHGC4	H4C5	SNORD116-1	C2CD3	PRUNE1	SOS2	TOGARAM1	TSR2	COL1A1	GDF11	SMC3	NCAPD2	PRIM1	HERC1	POLR1B	IL6ST	BRWD3	INTS1	RASA2	KDF1	TMEM231	LGI4	TFAP2B	FRAS1	CAMK2B	SLX4	AGRN	STAT5B	POLR2A	NIPBL	FANCL	TP63	INS	RPL35	MAB21L1	OTUD5	COX4I1	NUS1	MED25	PIGS	DIS3L2	SLC1A2	RAD51	CA2	PNKP
HP_ABNORMALITY_OF_FACIAL_ADIPOSE_TISSUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FACIAL_ADIPOSE_TISSUE	PPARG	POLR3A	LMNA	ZMPSTE24	KCNJ6	ERCC6	PSMB8	ERCC8	LMNB2
HP_FULL_CHEEKS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FULL_CHEEKS	IDUA	CSPP1	EXTL3	PCLO	GNAS	IARS1	GATA4	SH3BP2	IFT122	YARS1	CLCN3	EIF2S3	CDC42BPB	SPTBN1	PIGB	PCNT	KMT2E	RPGRIP1	LMNA	IDS	STXBP1	IER3IP1	TXNDC15	RTL1	FLNA	B9D2	DTYMK	GNAI3	DPYD	GNB2	MAP3K7	TCTN2	SLC29A3	AGL	IFT52	VPS33A	KRAS	TCTN3	TMEM107	WDR19	BRAF	WAC	KLHL7	IFT140	LMX1B	SOX11	ELN	MEG3	ASXL1	NEK9	STX16	TCF4	FGF3	TMEM67	ACTB	CDK5	AIP	WDR26	PUF60	TGDS	DDB1	TBL1XR1	SLC26A2	TAFAZZIN	PIK3CA	PAX1	EDN1	CRLF1	MKS1	INTS1	SNX14	MAPK8IP3	TCTN1	TRMT10A	HSPG2	MAP2K2	ACTG1	KMT2B	PIGQ	NOTCH2	AFF4	TMEM231	DPM1	CPE	CREBBP	EEF1A2	CLCF1	SLC35A2	SH3PXD2B	SON	LIFR	EP300	CEP290	ELMO2	PPP1R15B	EYA1	BMP2	SHANK3	STAG2	PURA	NALCN	KIDINS220	TMEM237	SIM1	KIF11	TMEM216	PLCB4	HRAS	WDR35	PSPH	OCRL	KCNH1	DLK1	SLC37A4	ZPR1	KIF1A	TECPR2	MLXIPL	CCDC88A	SETD1A	TFE3	MAP2K1	B9D1	ATP7A	ZNHIT3	LARS1	GPR101	MOCS1	FBN1	PIGN	CC2D2A	BICRA	MOCS2	TBCE	KDM6B	SETD1B	NRAS	HEATR3	H1-4	RPGRIP1L	SC5D
HP_LOW_ANTERIOR_HAIRLINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_ANTERIOR_HAIRLINE	BRD4	SVBP	DPM2	RAD21	TBC1D24	SH2B1	NSUN2	TBX2	SLC12A6	CLCN3	CDC42BPB	FGFR2	ERMARD	NUDT2	FOS	ZNF699	ZIC1	FGFR3	POLR1C	RAB18	RPS26	NANS	SLC25A24	RPL26	LIG4	SMARCB1	ABCC9	H4C5	POLR1D	DOCK7	SMARCE1	TCOF1	RPS24	GATA1	SETD5	FRMD4A	TAF6	PGAP1	SOX4	SPATA5L1	MEGF8	SPOP	TCF12	HDAC8	BRCA1	PACS1	H3-3A	TWIST1	TBC1D20	RPS27	TSR2	CDK5	INSR	ADA2	TWIST2	SMARCA4	KCNN3	SMC3	TTC5	RPS28	SLC35C1	KCNJ8	KREMEN1	NBN	ASH1L	FKRP	POLR1B	SMARCA2	SMPD4	RPS19	SMC1A	RPL15	ARID1B	VPS33A	RPL11	TRMT10A	HSPG2	COG7	ASXL1	RPS15A	RPS29	CREBBP	LRPPRC	RPS20	ARID2	RAB3GAP2	TECPR2	MAPRE2	EP300	RPL27	VPS13B	RPL35A	NOTCH2	EMC1	MAN2B1	AIFM1	PPP1R15B	ANKRD11	NIPBL	PPARG	RBL2	STAG2	RPS17	BSCL2	IGF1	MED13L	DPF2	RPS10	SOX11	TMCO1	ARID1A	KCNH1	TRIO	ALG11	RPL35	MAB21L1	ARX	DOCK6	PRDM13	RALGAPA1	PIK3C2A	ATP6V1B2	SMARCC2	PEPD	XRCC4	BICRA	CAVIN1	RPS7	RPL18	SPEN	CAV1	SMARCD1	AGPAT2	RPL31	MAP3K7	RPL5
HP_FACIAL_HYPOTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_HYPOTONIA	AMPD2	SLC1A3	PCGF2	ZMIZ1	KDM4B	KCNK4	NGLY1	STRADA	GPC4	MYOT	DMPK	DYNC1H1	YY1	CACNA1A	POU3F3	STAG2	RAB11B	AP4B1	AP4E1	PURA	CHAMP1	SET	DSE	CAMK2G	POGZ	GPC3	PPP2R1A	PPP2R5D	ASXL1	UNC80	KDM5C	AP4M1	PAX7	ATP1A3	TET3	AP4S1	MECP2	SLC30A9	HERC1	XYLT2	GAA	VPS13B	GRIA3	ATP1A2	SATB2	MAN2B1	ZBTB11
HP_MASK_LIKE_FACIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MASK_LIKE_FACIES	ATXN8OS	MAPT	ITPR1	SLC20A2	DUX4	EIF2AK2	FA2H	TBP	ADH1C	MYH3	KDM6A	KMT2D	RIPK4	FKRP	PANK2	PDGFB	KCNJ6	FKTN	PAX6	DNMT3B	DCTN1	SMCHD1	TRIM32	MT-TT	FMR1	GBA1	POMT2	HSPG2	PABPN1	PDGFRB	NR4A2	POMT1	ATXN2	UBA5	REV3L	ATP6V1A	SLC6A8	ATP13A2	TK2	ATP7A	ATP6AP2	GLUD2	LARGE1	UBE3A	TH	POLG	MRE11	ACTA1	PLXND1	FRG1	SNCAIP	PIEZO2	PRNP
HP_OVAL_FACE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVAL_FACE	SOX18	SH2B1	TP63	EXOC2	ADARB1	TSPEAR	CASK	SPTBN1	SPEN	PUF60	CNTN1	EBF3	NFIX	B3GALT6	HYOU1	SLC25A12
HP_ABNORMALITY_OF_FACIAL_MUSCULATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FACIAL_MUSCULATURE	AMPD2	SMARCE1	FKRP	SEMA3E	VCP	YARS1	ADCY5	CHRND	TREX1	MTMR14	POMT1	LRP12	GPC4	MYL2	ACTA1	LRP4	SIX1	SNCA	GAN	FKTN	TK2	NEFL	PNPT1	TPM2	RYR1	LMOD3	MTM1	NARS2	LRP5	TCIRG1	ASXL1	UBA1	DNA2	RRM2B	CC2D1A	PLA2G6	SH3TC2	PEX3	LGI3	CNBP	SMO	TET3	DBH	PEX1	MECP2	CFL2	LRRK2	POMT2	SLC25A21	POLG	HOXB1	CLCN7	COL6A2	UBA2	HK1	JAG2	BIN1	MUSK	KBTBD13	PLEC	GFPT1	MYH7	TP63	CHRNG	GJA1	LARGE1	PEX5	ATP13A2	GLE1	GIPC1	YY1	POU3F3	FRG1	BAP1	SPEG	ATP6AP2	CLTC	MGME1	CHRNE	PEX6	POLG2	PABPN1	NF2	NECTIN1	KDM5C	ZFHX4	DNMT3B	ANKH	COL12A1	FBXO7	ABCA1	CAPN3	DOK7	KLHL41	DDHD2	CHD7	EBF3	ANO5	MPZ	MYPN	SLC30A9	HACD1	SUPT16H	ZC4H2	EYA1	SATB2	MAN2B1	ZBTB11	SLC1A3	COL6A3	VPS35	PCGF2	MYL1	SLC25A4	KDM4B	SLC52A3	NGLY1	SRPX2	ADSS1	DLL4	COL13A1	DNAJC6	SQSTM1	DES	SPTBN4	ATP1A2	TOR1A	SMARCB1	AP4B1	CHAMP1	DSE	DNAJC13	POGZ	ATP1A3	CHRNA1	SELENON	CRYAB	SOST	CHCHD10	ALS2	SLC25A1	ITGB4	CHAT	REV3L	GMPPB	AP4S1	LPIN1	GIGYF2	PTRH2	FLNC	MTMR2	COL4A1	PLXND1	VPS13B	EIF4G1	MT-TE	SGCD	SLC6A3	SLC18A2	ZMIZ1	JAM2	BTNL2	CHRNB1	SLC52A2	TPM3	XRCC2	SLC30A10	PEX10	NEB	STRADA	MYOT	TRAF7	SLC19A3	STAG2	DNM1L	PEX11B	SALL4	SNX10	ADA2	SET	PEX14	IRF6	ITGA7	AGRN	NFU1	UNC80	TWNK	AP4E1	GBA1	TUBB3	SLC5A7	PUF60	CNTNAP1	SYT2	PTDSS1	PEX12	SLC25A42	SYNE1	SYNJ1	PEX26	FTL	AMER1	COL25A1	COL6A1	KLHL40	MAP3K20	KCNK4	GJC2	MYMX	MEGF10	PRDX3	MYMK	PEX13	TTN	MT-CO3	PPP2R2B	TUBB6	SLC18A3	TGFB1	BAG3	SPR	PODXL	SMCHD1	SCN4A	HLA-DRB1	SHMT2	PI4KA	OSTM1	PRKCG	XYLT2	ASAH1	BMS1	AK9	GRIA3	PDGFB	DNM2	KY	SBF2	YME1L1	TECPR2	CRPPA	VAMP1	LAMA2	ABCD1	GDAP1	RAB11B	COX6A2	ATXN1	SLC39A14	AKT1	PURA	DCTN1	PEX16	TXNL4A	PRRT2	TRPV4	CHKB	DNAJB6	PAX7	NOTCH2NLC	PLAA	MSTO1	CACNA1A	GAA	BICRA	TFAP2A	GSN	MYO9A	NOD2	SLC12A6	PEX19	ADGRG1	SCO2	SIX5	ALG2	DYNC1H1	DMPK	PEX2	COLQ	PIK3CA	TRIM32	RILPL1	TERT	ACTN2	ADCY6	CAMK2G	PPP2R1A	AP4M1	IRF2BPL	SF3B2	HERC1	MSX1	GNE	SNAP25	DPAGT1	MTRFR	OGDHL	CLCF1	LAMB2	SURF1	CACNA1S	SUFU	CADM3	MT-TN	SPTBN2	OPA1	ANXA11	RAPSN	GPC3	PPP2R5D	CRLF1	KCNK9	NUTM2B-AS1	RNASEH1	ALG14	TNFSF11	SUCLA2	KIF1B	LRIF1	ACADS	MT-CO1	SCN1A
HP_MANDIBULAR_PROGNATHIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MANDIBULAR_PROGNATHIA	UBE3A	KAT5	IARS2	APC2	RPL10	CLCN3	HS6ST2	IL11RA	CUL4B	CUL7	DEAF1	AFF3	FGFR2	GPC4	MYH8	SNRPN	FOS	ACAN	AIP	PIGY	PAX3	MEG3	EHMT1	SOST	PIGV	PRKAR1A	MSTO1	MBD5	LRP5	SLC12A2	RNF113A	SFRP4	TBC1D2B	FBN1	SETD2	FBXW11	TBC1D7	THUMPD1	TONSL	TWIST2	ALG14	WDR62	IDUA	MYOD1	ZEB2	ERCC4	KAT6A	GNPTAB	ERCC8	PQBP1	SMPD4	POC1A	RAI1	CLCN4	PMM2	GRIA3	DYM	FGFR1	HNF1B	EXOSC5	SLC6A17	GFPT1	SOX18	TNNI2	STEEP1	H3-3B	MYH7	SLC6A8	GJA1	TTN	LRP4	DOCK3	RUSC2	FAM20C	MYH3	PTCH2	MEN1	IQSEC2	PTCH1	PPARG	KIF11	SH3PXD2B	PTPN11	APC	AGA	FLII	SMAD4	TXNL4A	ATAD3A	CHRNE	NHS	KDM5C	ANKH	OPHN1	CDH11	FOXP1	ATP10A	PRKG2	SUFU	RUNX2	ERCC6	PDE4D	RECQL4	FMR1	TPRKB	CAVIN1	SUZ12	KDM6B	SLC9A6	MAN2B1	IL1RAPL1	KPTN	PCGF2	SLC10A7	LTBP3	ATRX	CDC42BPB	MAF	KIF7	DHX30	COLQ	GNB2	BSCL2	KCTD1	PCDHGC4	HERC2	H4C5	GLB1	CACNA1G	FOXG1	UPF3B	NSRP1	SELENON	DLK1	ATP6V0A1	H3-3A	INSR	DNMT3A	SMS	RAF1	SLC35C1	AP1S2	GPC3	PYCR1	TAFAZZIN	ADAMTSL1	HERC1	IL6ST	SRCAP	PGAP2	NEXMIF	SLC25A24	PRKACB	SVIL	SLC35A2	STT3A	NDST1	GJA5	AGPAT2	LAMB2	GORAB	NSD1	PTEN	RMRP	MESD	STAG2	OCA2	PIGW	PGAP3	ERCC1	MED13L	RTL1	ADAMTSL4	RNF125	GJA8	PIGO	AP4M1	OCRL	KCNH1	EZH2	CLIC2	AIMP2	GALNS	MAGEL2	PUF60	MED25	TGFB1	HNRNPH1	FLCN	PTDSS1	TNFSF11	GPR101	POGZ	CAV1	NFIX	RPS6KA3	ANTXR1	CSNK2B	TBCK	PIGL	CNOT3	P4HTM
HP_ABNORMALITY_OF_THE_CHIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CHIN	CHRNG	IARS2	SEMA3E	VPS37D	APC2	NSD2	HS6ST2	IL11RA	CUL4B	CUL7	HS2ST1	DEAF1	UGDH	FGFR2	GPC4	MYH8	ACAN	AIP	CASZ1	PIGY	KCNJ6	SETD2	EHMT1	RECQL4	PRKAR1A	LRP5	SPOP	CYP26C1	RNF113A	SFRP4	HSPG2	TBC1D2B	FBXW11	COX7B	TBC1D7	CHD1	TWIST2	SLC26A2	ATP6V1E1	IDUA	ZEB2	CAMTA1	ERCC4	CCDC8	KAT6A	GNPTAB	OBSL1	PQBP1	TAF1	DYM	HNF1B	MED12L	NRCAM	POLR3A	GFPT1	DDR2	MLXIPL	TNNI2	H3-3B	LMNB1	MYH7	SLC6A8	GJA1	DST	LRP4	RUSC2	NSUN2	YY1	RALA	MEN1	ERCC8	PTCH1	KIF11	PRDM16	SCUBE3	KNSTRN	SH3PXD2B	NALCN	APC	FKBP6	AGA	FLII	MAN1B1	UBE3A	ATAD3A	ASXL3	HRAS	PAX3	CHRNE	KDM5C	ANKH	COL2A1	TRIO	ZNF526	PDPN	CHD8	FOXP1	EBF3	PRKG2	RAI1	ATP6V1A	RUNX2	WAC	EIF2S3	PDE4D	POU4F1	CLIP2	FMR1	TPRKB	PIK3R1	SLC37A4	PRKDC	CDH2	KANSL1	CAVIN1	SPEN	ERCC6	ACTG1	LMNA	ZNF148	MAN2B1	IL1RAPL1	PCGF2	RNF13	IGF2	SPTBN1	PIGB	NGLY1	MAF	KIF7	DHX30	GABRD	STXBP1	ZBTB24	COA6	CHD7	GNB2	KCTD1	HERC2	CHAMP1	TUBGCP4	FOXG1	SOX11	POGZ	UPF3B	SPRED2	SELENON	ATP6V0A1	SOST	ACTB	SLC9A6	CDK10	NSD1	DNMT3A	GRB10	SMS	RAF1	INSR	CDH11	TTC5	GPC3	PYCR1	ADAMTSL1	PIEZO2	SRCAP	SLC6A17	MMP23B	CTU2	PRKACB	VAC14	PDGFRB	FLNA	BAZ1B	ELN	ANKRD11	SVIL	SLC35A2	NDST1	LRP1	EIF4H	SHANK3	MYH3	STAG2	OCA2	NAA10	ERCC1	BSCL2	SET	ADAMTSL4	RNF125	GJA8	PIGO	BRAF	TLK2	OCRL	KCNH1	EZH2	NFIA	MAGEL2	PUF60	HNRNPH1	THOC6	FLCN	PTDSS1	GPR101	PTF1A	SNRPN	KDM3B	CAV1	NFIX	ANTXR1	CNOT3	P4HTM	ITCH	H19	KAT5	RPL10	CLCN3	AFF3	FOS	KIFBP	MEG3	XRCC4	PIGV	MSTO1	METTL27	MBD5	SKI	SLC12A2	ARID1B	MTOR	FBN1	NDUFS4	THUMPD1	TONSL	ALG14	WDR62	GTF2IRD1	EDA	MYOD1	SMARCA2	SMPD4	POC1A	TMEM94	CLCN4	PMM2	SNX14	GRIA3	FGFR1	MAPK1	EXOSC5	SOX18	BCL7B	MEIS2	STEEP1	PPP1R21	TRIP12	SPECC1L	TTN	NCF1	DOCK3	FAM20C	CRKL	FBXO31	PTCH2	IQSEC2	PPARG	LUZP1	PTPN11	TBX22	PIK3CD	DYRK1A	SMAD4	TXNL4A	EED	RFC2	ABL1	NOTCH2	NHS	TBL2	TRPS1	PORCN	PUS7	OPHN1	PLK4	GTF2I	ATP10A	SUFU	AP1S2	KCNAB2	MED12	TUBGCP6	ALDH1A2	BICRA	TFAP2A	SUZ12	KDM6B	STX1A	MRAS	DNAJC30	KPTN	SLC10A7	LTBP3	ZNF292	ATRX	CDC42BPB	RERE	BCR	FIG4	PDCD6IP	BMPR1A	NR2F1	COLQ	PCDHGC4	AP4E1	H4C5	GLB1	ALG13	PRKCZ	CACNA1G	LMX1B	FGF3	NSRP1	DLK1	H3-3A	MADD	TWIST1	SLC35C1	FN1	DNM1L	TAFAZZIN	ZMPSTE24	HERC1	BUD23	IL6ST	PTEN	SETBP1	PGAP2	NEXMIF	SLC25A24	MEF2C	PARS2	STT3A	GJA5	AGPAT2	CAMK2B	LAMB2	GORAB	PAPPA2	RMRP	UBE4B	MESD	PIGW	PLOD3	GTF2IRD2	LIMK1	DHX37	PGAP3	MED13L	RTL1	SCNM1	AP4M1	PIGU	TMEM270	CLIC2	AIMP2	SIN3A	GALNS	OTUD5	RNU4ATAC	MED25	TGFB1	PIGS	TNFSF11	RPS6KA3	CSNK2B	TBCK	PIGL	MAP3K7
HP_POINTED_CHIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POINTED_CHIN	DNAJC30	MAN1B1	CHRNG	VPS37D	ZNF292	CUL7	HS2ST1	SPTBN1	PIGB	CAMTA1	NGLY1	RERE	UGDH	BCR	GABRD	PDCD6IP	CASZ1	NR2F1	KIFBP	AP4E1	CHAMP1	PRKCZ	SPEN	TUBGCP4	METTL27	POGZ	SPRED2	FGF3	SKI	SPOP	HSPG2	MADD	SETD2	ACTB	CDK10	TBC1D7	CHD1	CLCN4	ATP6V1E1	INSR	CDH11	TTC5	GTF2IRD1	FN1	DNM1L	ZEB2	YY1	CCDC8	TAFAZZIN	KAT6A	OBSL1	BUD23	SETBP1	POC1A	TMEM94	TAF1	MMP23B	SNX14	MAPK1	ACTG1	PDGFRB	FLNA	BAZ1B	MED12L	ELN	ANKRD11	POLR3A	BCL7B	MEIS2	MLXIPL	LMNB1	GJA5	TRIP12	NCF1	NSD1	DOCK3	CRKL	RALA	RMRP	UBE4B	EIF4H	SHANK3	MESD	PRDM16	PLOD3	GTF2IRD2	SCUBE3	LUZP1	LIMK1	DHX37	FKBP6	SET	KIF11	GJA8	HRAS	RFC2	ABL1	NOTCH2	TBL2	PIGU	TLK2	TMEM270	PORCN	PUS7	COL2A1	ZNF526	PDPN	CHD8	PLK4	GTF2I	SIN3A	PRKG2	OTUD5	ATP6V1A	KCNAB2	MYH3	TUBGCP6	POU4F1	THOC6	CLIP2	SLC37A4	CDH2	KDM3B	BICRA	NFIX	STX1A	ZNF148	MRAS	MAP3K7
HP_MICRORETROGNATHIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICRORETROGNATHIA	KPTN	SLC35A3	SLC10A7	SEMA5A	TMEM70	MYH7	YARS1	RPL10	KATNB1	CSGALNACT1	TTN	CHST14	TXNDC15	VAMP1	KIF7	COL2A1	DHCR7	AGRN	CTNND2	SLC18A3	NDE1	RTTN	IPO8	ZC4H2	NAA10	TELO2	TUBA1A	CANT1	EIF4A3	OFD1	C2CD3	COL13A1	TRIP4	CRIPT	FBXL3	GMNN	KAT6A	SELENON	TASP1	SEC24D	KCNK9	GLI3	ATP6V0A2	SLC25A1	PUF60	CHAT	NSMCE2	POLR1D	CHST3	SIN3A	RSPO2	OCLN	ALG13	B3GAT3	LMNA	GAD1	ORC6	CREB3L1	PRDM13	SYT2	NFIX	ALG9	PIGN	SLC5A7	EBP	TAF1	SNAP25	INTS1	CEP55	CEP120	MYO9A	PRORP	RELN	DSE	PAX1	NSDHL	BANF1	SF3B4
HP_ABNORMAL_MIDFACE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MIDFACE_MORPHOLOGY	AMPD2	MGP	MN1	SEMA3E	ODC1	VPS37D	POU1F1	LRP4	YARS1	TBX1	TMCO1	IL11RA	CTCF	HECW2	ZBTB20	RPGRIP1	LMNA	GPC4	LBR	LTBP4	B9D2	BMP4	PITX2	RNU4ATAC	NDUFB11	SALL4	EHMT1	PRKAR1A	KLHL7	FZD2	MEGF8	SIX1	TCF12	SLC26A2	CYP26C1	TSR2	SETD2	SEC24D	GP1BB	CHD1	WDR26	PTPN11	TGFBR2	WAC	B4GALT7	CCDC8	OBSL1	LARP7	HOXB1	ZNF407	KCNJ2	HK1	PTH1R	TWIST2	POLR3A	IGF2	LZTR1	NPR3	SP7	H3-3B	JAG1	DHODH	DVL1	SMCHD1	TP63	CHN1	TWIST1	BBS7	GDF1	STAG2	PPP2R5D	TCF20	GNAS	NKX2-5	FKBP6	FLII	TUBGCP2	RUNX2	DPH5	HSPG2	GLI2	LHX3	COL2A1	PQBP1	TRIO	SLC37A4	CHD7	ACP5	KIF1A	RAI1	COL11A2	GJA5	GRIN1	LARS1	PIK3R1	MOCS1	EBP	USB1	TBCE	GATA4	MAFB	P4HB	SETD1B	EYA1	B3GALT6	SATB2	PPP1CB	FGFR1	GATA6	PCGF2	LETM1	PIGB	NGLY1	DLG3	MAF	IREB2	PAK2	KDM6A	GABRD	STXBP1	POLR1C	LAS1L	NBAS	NBN	HDAC4	POLR1D	TCTN3	GSC	TCOF1	KMT2D	SALL1	RNF13	TCF4	UBE3B	EFTUD2	FGFR3	NOTCH3	ACTB	FLNA	WNT5A	ALX3	CDH11	FLT4	XRCC4	PYCR1	KIF22	PRMT7	COL5A1	MAPK8IP3	RFWD3	TRMT10A	POLR1B	BAZ1B	PRKACA	CCDC22	DVL3	ACAN	SLC35A2	ZMIZ1	SEC24C	WASF1	NOTCH2	EP300	MAN2B1	ELMO2	SON	EIF4H	SHANK3	EDN1	ADAMTSL4	RHOA	KDR	NXN	GJA8	PSPH	ZNF462	LRRC32	KCNH1	PRR12	ZFPM2	HRAS	FGFR2	HNRNPH1	ACSL4	SLC35D1	PEPD	HBB	NGF	NRAS	CNOT3	RPGRIP1L	TMEM260	HBA1	COL1A1	COL9A3	BGN	EDNRA	NAA10	COL11A1	MAP3K7	TCTN2	IFT52	SIX5	CTBP1	AMMECR1	RRAS2	METTL27	MBD5	SATB1	FGF3	FBN1	CDK5	FGFRL1	TONSL	IPO8	HCCS	CCDC47	H4C3	H19	COL9A1	PIK3CA	GHR	MRAS	PAX1	XYLT2	PEX1	CLCN4	LEMD2	SNX14	GRIA3	MAP2K2	BICD2	PAX3	YME1L1	BCL7B	SMAD3	IFT81	NCF1	FAM20C	MYH3	PEX7	MYSM1	CRKL	EFEMP2	PPP1R15B	DLX4	SMC1A	PIGV	TBX22	KIDINS220	TMEM216	SMAD4	CPLX1	KAT6B	UBE2A	TGFB3	KRAS	NECTIN1	WDR73	MED12	MLXIPL	CCDC88A	B9D1	ATP7A	RAB3GAP2	PIGN	BICRA	MOCS2	MAPK1	AGL	HEATR3	WDR19	ROR2	HNRNPK	FIBP	SH2B1	ATRX	PTRH2	PCNT	SNRPN	POMGNT1	OSGEP	STRADA	DTYMK	GNAI3	HIRA	SLC29A3	VPS33A	TFAP2B	AEBP1	PRKCZ	SETBP1	BRAF	MEG3	FOXC1	H3-3A	POR	STAC3	WASHC5	ARVCF	PUF60	SF3B4	NSMCE2	RDH11	ALX1	COG1	TAFAZZIN	DCHS1	BUD23	NFIX	CRLF1	MKS1	SOST	SLC25A24	KMT2B	RAF1	SIX3	DPM1	BANF1	CHD3	SH3PXD2B	SEMA5A	TBL1XR1	HESX1	LIFR	UBE4B	MESD	PIGA	ANKRD17	ATP6V0A2	EPB41L1	ANK1	IDS	SERPINH1	GPC3	WDR35	NF1	PIGU	DDR2	AIFM1	IDUA	JMJD1C	TECPR2	B3GAT3	MAP2K1	CC2D2A	NONO	WBP11	BCOR	EXTL3	PCLO	PDZD8	IARS2	CTSK	SH3BP2	IFT122	CUL7	NSDHL	DEAF1	HNRNPU	RTL1	CASZ1	CNOT1	CANT1	IFT140	NSMCE3	ASXL1	ATP6V1A	COL18A1	SPECC1L	RSPRY1	TGDS	RREB1	KAT6A	NKAP	RRAS	BMP2	DNMT3B	RIT1	TCTN1	ALG12	CREBBP	KMT2C	SLC6A8	NDP	LOXL3	HSPA9	PSMD12	CEP290	YY1	PRDM16	NALCN	MAN1B1	TUBB4A	KIF11	ASXL3	PEX12	PDPN	CDC42	SETD1A	PDE4D	SLC2A10	CLIP2	HDAC8	GATA5	CTDP1	CEP120	GPC6	ZNHIT3	MID1	TMEM165	H1-4	SC5D	SVBP	SOX9	ERF	SHH	SLC9A7	CSGALNACT1	SPTBN1	TFAP2A	KIF7	KMT2E	GNB2	MIR140	DSE	GMNN	CDKN1C	NSD2	SOX11	POGZ	POLE	OFD1	TASP1	TMEM67	SCARF2	DDB1	LTBP1	B3GLCT	FLNB	MECP2	MMP23B	POLR1A	BLM	COMT	COL9A2	BPTF	AFF4	ELN	ANKRD11	CLCF1	LRP1	PIGT	COG4	HBA2	RLIM	TLK2	OCRL	SMARCA2	BRF1	ZPR1	FOXP1	KCNE5	SMAD2	SNRPB	CDK19	PTEN	GPR101	CILK1	TBX4	KCNQ1OT1	SOS1	ANTXR1	DACT1	TGFBR1	PLP1	SPART	ITCH	IARS1	CLCN3	EIF2S3	TXNDC15	CTNND2	POP1	FOXG1	CBL	RNU12	TMEM107	FBLN5	SPEN	SKI	STX16	ARID1B	NKX2-6	COX7B	AIP	PSMC1	TAT	GTF2IRD1	H4C9	FAM50A	ACTG1	PIGQ	CITED2	CPE	LRPPRC	EEF1A2	BCL11A	VPS13B	IQSEC2	EXT2	SYK	LUZP1	PURA	TMEM237	TXNL4A	RFC2	LRP2	PYCR2	NPHP3	TBL2	GATA1	NEPRO	RPS26	DLK1	GTF2I	KCNAB2	PROP1	TFE3	CCBE1	KDM6B	KCNQ1	STX1A	SEC23A	AUTS2	CSPP1	DNAJC30	ESCO2	INPPL1	CDC42BPB	RERE	ASPH	BCR	ATP6V1E1	IER3IP1	LHX4	PTCH1	DPYD	MITF	ZIC1	RAB23	CAV1	H4C5	LMX1B	RAC3	NEK9	RBM8A	SOS2	CHST3	GDF11	SPRED2	FN1	EIF2AK3	PDGFRB	SF3B2	HERC1	KIF15	INTS1	RASA2	HNRNPH2	IRX5	TMEM231	LINS1	RAB3GAP1	CAMK2B	GORAB	NTRK1	PLOD3	GTF2IRD2	LIMK1	MSL3	DHX37	MED13L	SIM1	PLCB4	FAT4	TMEM270	WLS	MTOR	TSEN54	OTUD5	LRP5	RYR1	PIGS	PSMC3	APC	RPS28	MRPS14	CA2	UFD1	BUB1B	PKD2
HP_ROUND_FACE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ROUND_FACE	COL6A3	FIBP	PRKAR1B	GNAS	SLC10A7	KAT5	ALMS1	IARS1	KDM4B	ITGA3	EIF2S3	CSGALNACT1	PLCB4	EZH2	LMNA	STXBP1	ZBTB24	NSD1	CTNND2	PIGY	FGD1	HDAC4	CANT1	CACNA1C	PIGV	HOXD13	LMX1B	COL11A2	FBN1	STX16	COL11A1	CHSY1	DNMT3A	MRPL12	PTEN	TOR1A	P3H1	AFF4	ANKRD11	TAFAZZIN	SEPTIN9	KIF15	CENPE	EED	ADARB1	PEX1	B3GLCT	PDE4D	PGAP2	NEXMIF	MAPK8IP3	TRMT10A	ECEL1	ZBTB18	COL6A2	CPE	MRPS28	AKT1	TECPR2	SEMA5A	ARMC5	TMEM67	COL2A1	GJA5	SPECC1L	SUZ12	FBXO31	PPP1R15B	PRKAR1A	TTC26	PDE11A	XYLT1	PIGW	RBL2	SMC1A	PGAP3	ACTG2	SH3BP2	MED13L	GJA8	PIGO	KMT2A	PAM16	EXOC8	BRPF1	SLC37A4	RNU4ATAC	HRAS	LTBP3	GNAI3	DIS3L2	CRTAP	PEX2	TRAPPC9	KDM6B	PEX6	NRAS	ADAMTSL2	PHIP	PIGL	COL6A1
HP_HYPERTELORISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTELORISM	LRP2	MN1	SEMA3E	ODC1	LRP4	TMCO1	IL11RA	CTCF	HS2ST1	IFT43	FOXE3	CPLANE1	ALX1	RPGRIP1	GPC4	LBR	LTBP4	GNE	ZNF699	B9D2	PIGY	FAT4	PITX2	ASXL3	ADAMTS3	FRAS1	PTPN11	EHMT1	TGFB2	GNPTAB	PRKAR1A	FAR1	FZD2	BRCC3	DPYSL5	MEGF8	CTNND1	NSD2	EDEM3	VPS51	TCF12	SEC24D	COX7B	TCTN3	GP1BB	MAT2A	ADA2	MED13	ATP6V1E1	ZIC3	TAPT1	RPS28	CHSY1	ZEB2	ANKRD11	TGFBR2	RPS6KA3	B4GALT7	SPOP	SKI	RBM10	STAMBP	NFIX	DICER1	FGF20	KCNJ2	PALB2	ZBTB18	DSE	TUBA1A	PTH1R	TWIST2	RPS29	CREBBP	NRCAM	POLR3A	LZTR1	TOPORS	BRCA2	LMNB1	DVL1	SMCHD1	HSD17B4	RPL35A	PIGN	PSMD12	RUSC2	DPH1	WARS2	AP1G1	KAT6B	TWIST1	PIK3R1	TGFBR1	ERGIC1	COL1A1	BBS7	INTS8	MACF1	MKS1	APC	FREM1	C12orf57	KIF7	FLII	GATA6	FGFR1	RUNX2	KMT2A	HSPG2	HEY2	CSPP1	PEX3	COG1	TRIO	ZNF526	KLHL41	MAD2L2	BRPF1	CHD8	CHD7	EBF3	RAI1	ATP6V1A	WAC	BCAS3	PRDM13	RECQL4	GNRHR	TPRKB	BRIP1	MOCS1	SUPT16H	CDH2	COLEC11	USB1	TBCE	SPEN	TRRAP	EXT2	MAP2K2	MAN2B1	PPP1CB	IL1RAPL1	LETM1	PIGB	CAMTA1	NGLY1	MAF	FOXF1	ERMARD	EZH2	LAGE3	RET	ZBTB24	KLF13	PTDSS1	NBAS	SLC25A24	GALNT2	RPL26	HID1	UBR7	POLR1D	TCOF1	FUCA1	INTU	ATP6V1B2	UBE3B	CBL	NOTCH3	ACTB	FLNA	GK	WNT5A	RSPO2	ALX3	INSR	CDH11	RB1	GPC3	CCDC32	ANTXR1	UMPS	WDR37	SUFU	TBX1	CTU2	MAPK8IP3	TCIRG1	VAC14	ASXL1	RPS15A	CCDC22	DVL3	RIPK4	DOK7	FGFR2	ZMIZ1	SEC24C	ALX4	NOTCH2	WDR73	KNL1	MICU1	NKX2-5	CASK	FLI1	PIGG	PGAP3	H4C11	NDE1	GLB1	RBL2	SCN1A	MCTP2	SOX6	LRRC8A	TMEM53	FGF8	NXN	ANKH	GJA8	PIGO	BRAF	TCF3	THSD4	COL2A1	SPART	THRA	MASP1	SOX9	HRAS	FLCN	MED25	PEPD	BCORL1	TRAPPC9	RAF1	PIK3CD	NRAS	FANCC	PHIP	CNOT3	ESCO2	RPGRIP1L	VPS35L	HBA1	SHOC2	COL3A1	BGN	QRICH1	NF1	NSD1	KCNJ5	KIFBP	POLR1C	MAP3K7	TCTN2	RYR1	AVP	COL27A1	CTBP1	SOST	GATA1	RRAS2	MBD5	ACTA2	INPPL1	THOC2	GREB1L	FGFRL1	KATNIP	IPO8	COL1A2	NEB	CCDC47	H4C3	SPRED1	ZIC1	TMEM231	TNFRSF11A	AHDC1	NARS1	MRAS	BCL11B	XYLT2	CHD4	CPLX1	PEX1	ADK	FANCL	DDX3X	KRAS	PMM2	GTF2H5	FGFR3	JAG1	SIX2	PAX3	LMBR1	FH	PAICS	SMAD3	SEC23A	PPP1R21	GON7	FAM20C	SUZ12	NUP88	FBXO31	PTCH2	DUSP6	RERE	DLX4	SLC45A1	PIGV	CDH1	SIN3A	TMEM216	ACY1	SMAD4	COL11A1	MED27	ERF	UBE2A	HACE1	TGFB3	MUSK	HDAC8	SMAD2	SOS1	OGT	FANCI	BMPER	ALG13	RNU4ATAC	TAOK1	B9D1	DOCK6	BPTF	MARS2	TTC7A	PHGDH	BICRA	MOCS2	RPL18	ALG6	CIT	XRCC2	RPL31	GLI3	HEATR3	ROR2	GJA1	FIBP	TBC1D24	ERCC3	NSUN2	TBX2	SH2B1	ATRX	NUP133	LRP5	PTRH2	B4GALT1	SNRPN	OSGEP	STRADA	BMPR1A	PRMT7	KPTN	HIRA	PPP2CA	RPS19	OFD1	TFAP2B	TPM2	SETBP1	SLC1A4	ALDH6A1	PPP2R1A	KCNH1	SPRY4	NSRP1	FOXC1	BRCA1	H3-3A	SKIC2	WASHC5	DNMT3A	ARVCF	PTEN	ALG9	FGD1	SLC35C1	FANCF	PAFAH1B1	DCHS1	CARS1	CD79B	PITX1	ACTA1	PGAP2	SMO	SNAP29	ITGA8	RELN	DPM1	MEF2C	PARS2	MAP2K1	RPS20	CHD3	SH3PXD2B	SEMA5A	PPP1R12A	RNF113A	KATNB1	GJA5	TBL1XR1	CHST14	FANCM	CCND2	ALG8	TTC26	SCYL2	PIGW	PYCR1	LEMD3	PIGA	KCNMA1	HPDL	RPS17	DEF6	ATP6V0A2	EPB41L1	ANK1	WDR35	KISS1R	PPP2R5D	TBX15	DDR2	RNF2	DDX59	EMC1	JMJD1C	B3GAT3	FANCE	IGLL1	GAD1	FANCG	RAPSN	NKX2-6	EFNB1	FAM149B1	CC2D2A	SMS	GFRA1	EXTL3	PDZD8	CHRNG	FANCB	ABCD4	UBE2T	DEAF1	HNRNPU	RIT1	KIAA0753	ADGRG6	DPYD	RPS24	PIGL	IFT140	NSMCE3	COL11A2	PDHX	SPECC1L	DHCR7	FAM111A	RPS27	RSPRY1	SOS2	TGDS	LIG4	MMP2	FBN1	ZMPSTE24	MED12	RREB1	RRAS	NCDN	DNMT3B	SLC26A2	TMEM138	TAF1	TCTN1	SLC29A3	FREM2	PEX6	MED12L	KBTBD13	HS6ST1	CDCA7	IGHM	ASXL2	LOX	PLCB3	TXNDC15	CEP290	PTCH1	KNSTRN	STAT3	PACS1	SRD5A3	AGA	MAN1B1	KIAA0586	HDAC4	RAD51C	WDR11	POLR1A	GTF2E2	SKIC3	RPL5	CDC42	FOXP1	FANCA	SMARCD1	MYPN	MED13L	SETD1A	GLE1	GATAD2B	PDE4D	SLC2A10	SLC37A4	FIG4	TUBB	CEP120	RFWD3	ACTG1	DPF2	MID1	NUP107	PDE6D	ZIC2	IDUA	CCNK	EBP	TMEM147	SPTBN1	BLNK	ZMYND11	COLEC10	POGZ	SPRED2	EPG5	TASP1	EXOC2	TMEM67	CDK10	CENPF	AP4S1	NSMF	CHST3	AKT3	B3GLCT	HELLS	WNT9B	FLNB	CDK13	MGAT2	PRKACB	B3GALT6	COMT	POR	RSRC1	GNRH1	AKT1	RPS7	PSAT1	EP300	PROK2	TPM3	MYH3	NAA10	HUWE1	ERCC4	ZSWIM6	SALL4	NFASC	TENM3	MFAP5	COL25A1	SET	HBA2	RLIM	TLK2	PRKG1	FGF17	AUTS2	NONO	KCNN3	CDK19	ACOX1	TBX4	AMER1	BNC2	SHANK3	PPP3CA	EIF5A	ADAT3	PLP1	TP53RK	ITCH	ITGA3	CLCN3	ACTL6B	AFF3	HIVEP2	CTNND2	MYOD1	LMNA	RPS26	FANCD2	CCBE1	TMEM107	TRIP4	SMG9	CLCN7	ALDH18A1	ARID1B	MTOR	SIK3	THUMPD1	SLC39A13	PHACTR1	H4C9	AFF4	GNS	KREMEN1	KDM1A	CLCN6	SMARCA2	POC1A	TMEM94	KISS1	RPL15	RPL11	CHRNA7	MAPK1	CHRND	LRPPRC	MAPRE2	RPL27	TRIP12	CNTNAP2	SPINT2	AIFM1	FBXO11	IQSEC2	MPLKIP	TBCD	PRPS1	TMEM237	NALCN	TXNL4A	EED	RPS10	EFEMP2	WDR4	DDX6	TRIM37	PACS2	TACR3	BLTP1	TAC3	CNTN1	GPAA1	TFE3	SLC25A12	CENPJ	SIAH1	ZMYM2	NKX3-2	PIK3R2	TFAP2A	PEX2	NELFA	PRORP	CSNK2A1	EXOSC9	SLC12A6	ZNF292	CDC42BPB	MYLK	YWHAE	TELO2	HMGA2	ANAPC7	CACNA1G	RAC3	FGF3	TOGARAM1	TARS1	TSR2	MAN2C1	EIF2AK3	ASH1L	HERC1	KIF15	POLR1B	IL6ST	RAD21	DNAJC21	INTS1	RASA2	HNRNPH2	IRX5	PYCR2	ERCC2	PIK3CA	GRIP1	RMRP	SLX4	BMP2	POLR2A	PEX5	ALG1	DHX37	SLC18A3	SCNM1	MYH11	CHRNA1	RPL35	TBR1	OTUD5	TONSL	PIEZO2	WDPCP	PROKR2	VSX1	RAD51	ELN	MRPS14	GBA1	UFD1	BUB1B	CD79A
HP_FACIAL_MYOKYMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_MYOKYMIA	PRKCG	ATP13A2	ADCY5	SPTBN2	PPP2R2B	PNPT1	LGI3	ABCD1
HP_SMOOTH_PHILTRUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMOOTH_PHILTRUM	ADSL	MAN1B1	AASS	ZNF292	RPL10	TMEM147	CDC42BPB	TBX1	MMACHC	SPTBN1	PLAA	PIGB	MAF	KIF7	HNRNPU	DHX30	UGDH	BCR	AFF3	QRICH1	ATP6V1E1	GNE	ZNF699	MED12	RTTN	ADNP	ACER3	PAX3	IGF1R	H4C5	CANT1	RHOBTB2	WDR19	CTNNB1	AP3D1	SETD5	IFT140	FOXG1	SYT1	SPOP	SATB1	ATP6V1A	TRIM8	UBE3B	PACS1	H3-3A	TASP1	EXOC2	NOTCH3	SMARCA2	CDK10	ATP6V0A2	MED13	THUMPD1	SUMF1	PUF60	SMS	TBL1XR1	COG1	MYOD1	PRIM1	NALCN	RAI1	ASH1L	DYRK1A	KIF15	TRPS1	SMPD4	NUP107	TMEM94	UNC80	PTPRF	RAD21	WDR37	CDK13	CERT1	KDM5B	LEMD2	AP3B1	DPM1	FLNA	HOXB1	MID1	SLC25A24	COG7	IRX5	POLR3GL	ZBTB18	PIGQ	ANKRD11	CDC42	CREBBP	PKDCC	PYCR2	MEIS2	STEEP1	SATB2	EP300	ZMIZ1	SEC23A	GJA5	TRIP12	PIK3CA	NSUN2	FLI1	SMC3	CRKL	SON	RERE	STAG2	SLC45A1	SMC1A	MSL3	MKS1	ANKRD17	SIN3A	CASK	ATG7	DHPS	PPP2R3C	ALG9	CD96	GJA8	TUBGCP2	WDR35	EXOSC1	DDX6	COL3A1	KDM5C	PIGU	TGFB3	PUS7	USP9X	POLR3A	MTOR	CLIC2	EBF3	ORC4	IFIH1	ZPR1	PRDX1	MAB21L1	SMG8	GAD1	TRAPPC9	CCBE1	DIS3L2	THOC6	FLCN	FBN1	PIGN	CDH2	ZC4H2	MAPK1	TRRAP	CSNK2B	ADAMTSL2	ZNF148	FAR1	PPP1CB
HP_BIRD_LIKE_FACIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIRD_LIKE_FACIES	WNT10A	CARS1	ZMPSTE24	ERCC3	ERCC2	LIG4	TARS1	NHEJ1	RNF113A	XRCC4	GTF2H5	RAD50	LMNA	GTF2E2	WRN	MPLKIP
HP_SQUARE_FACE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SQUARE_FACE	CHD7	CREBBP	LIFR	EP300	IFT57	SETD1B	WAC	KDM5B	OSTM1	PUF60	ADAMTSL1
HP_SHORT_PHILTRUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_PHILTRUM	MEF2C	MAN1B1	ITCH	TGIF1	NSD2	CLCN3	WDR4	CTCF	KCNK4	DEAF1	DLK1	AFF3	HIVEP2	HDAC6	RTL1	SUFU	PIGY	KCNJ6	MEG3	CCBE1	ADAMTS3	SMARCE1	FAT4	CTBP1	PIGV	RAB18	PIGL	DVL3	FZD2	DPYSL5	TBX1	EDEM3	VPS51	AP4B1	WNT4	ARID1B	PHF21A	TCTN3	TCF4	WNT5A	GP1BB	FGFRL1	DISP1	H4C9	ZEB2	SHMT2	RREB1	NALCN	KAT6A	NKAP	NODAL	MED12	BCL11B	SMARCA2	PQBP1	SMPD4	TMEM94	CPLX1	UNC80	LARP7	TSPAN7	GRIA3	HOXB1	ZBTB18	TBC1D20	MED12L	PTH1R	CDC42	ALG12	CREBBP	POLR3A	TMEM70	ZDHHC9	MEIS2	MTX2	VPS13B	TRIP12	NSUN2	LETM1	PSMD12	RALA	RAB3GAP2	PPP1R15B	IQSEC2	STAG2	SMC1A	GMPPA	SH3PXD2B	KIDINS220	FLII	SMAD4	TXNL4A	GLI2	PUS7	ARID1A	TRIO	OPHN1	DOCK7	CDH11	BRPF1	NFIX	SHH	TAB2	PIGG	RAI1	TAOK1	GNB1	BCAS3	GATAD2B	PDE4D	PTCH1	FIG4	CDH2	MID2	CHD5	SPEN	TRRAP	NELFA	DLL1	FGF8	DPF2	ROR2	AUTS2	UBE3B	DVL1	ZNF292	KDM4B	CDC42BPB	PITX2	SPTBN1	EXT2	FREM1	CUL4B	KIF7	IREB2	SRCAP	TWIST2	DENND5A	HIRA	GALNT2	PPP2CA	PCDHGC4	AP4E1	CHAMP1	H4C5	TFAP2B	SETBP1	FGFR1	SOX11	UPF3B	ALDH6A1	POGZ	ZIC2	NOG	NSRP1	AP4M1	KCNK9	MADD	ARVCF	SMS	TTC5	AP4S1	SIX3	ASH1L	ADAMTSL1	LRP4	CKAP2L	TNPO2	PGAP2	CDK13	CCDC22	NEXMIF	MAPK8IP3	TRMT10A	PRKACB	VAC14	HNRNPH2	COMT	TWIST1	BPTF	PRKACA	ERCC1	PARS2	RAB3GAP1	KIFBP	SLC35A2	SATB2	FOXL2	SEC24C	KDF1	SON	EMC1	IFT57	TDGF1	TMEM237	ERLIN2	FOXH1	H4C11	PIGW	NAA10	HUWE1	ANKRD17	DHX37	PGAP3	MCTP2	EPB41L1	NXN	CDON	PIGO	TCF3	COL3A1	LRRC32	KCNH1	WLS	RNF2	SLC35A1	SIN3A	JMJD1C	TBR1	NONO	RUNX2	GAS1	RNU4ATAC	TRAPPC9	MED25	ALX4	PSMC3	AP1S2	APC	UFD1	ARID2	PHIP	CNOT3	MAP3K7	PPP3CA	TALDO1
HP_FACIAL_ASYMMETRY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_ASYMMETRY	ADAT3	CHRNG	LETM1	MYCN	SEMA3E	FANCB	CPLX1	SLC12A6	KDM4B	KRAS	EBP	FGFR2	MAF	UBE2T	ELOVL4	ASPH	BCR	NF1	SOX5	EDNRA	SIX1	COL1A1	DDX59	CEP85L	ZIC1	KCNJ5	GNAI3	CHD7	MEOX1	NBAS	BMP4	SIX5	SALL4	OFD1	CTBP1	NSD2	PPP2R1A	BRCA1	TWIST1	CEP152	FGFRL1	GNAS	MAN2C1	FLNA	PUF60	MYH8	PTEN	SMS	EFNB1	CDH11	H19	FN1	FANCF	YY1	SF3B2	KAT6A	PIK3CA	PAX1	GDF6	CDK13	SMO	FGFR3	PIEZO2	NTRK2	POLR1B	KCNJ2	PALB2	AKT1	IGF2	FRAS1	SP7	SATB2	BRCA2	NRAS	SON	FGF9	ELMO2	CHST14	CHN1	FANCM	LRP4	PSMD12	FLI1	SMC3	CRKL	SLX4	NOG	EYA1	EDN1	SMC1A	CTNND1	ERCC4	FANCL	PURA	PPP2R5D	USP9X	SIN3A	DHX37	HRAS	C12orf57	SET	RAD51C	PLCB4	RHOA	FANCD2	KMT2A	PORCN	COL2A1	TRIO	ANOS1	MAD2L2	FANCA	FANCI	ATR	KCNQ1OT1	FANCE	MYH3	FANCG	MACF1	SEPTIN9	BRIP1	CLTCL1	SALL1	PIGN	SLC37A4	GDF3	GDF5	MAPK1	NFIX	RAD51	RFWD3	MAFB	XRCC2	DACT1	FANCC	PKD2
HP_TRIANGULAR_FACE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRIANGULAR_FACE	H19	BMP1	HS6ST2	CUL7	ZNF699	HMGA2	KCNJ5	ADGRG6	ALDH18A1	PTPN11	CBL	XRCC4	TNRC6B	IGF2	ARX	MVK	RRAS2	PEX14	CLCNKA	SEC24D	PLAG1	ATP6V1E1	MYOD1	SPRED1	ANKRD11	BUB1B	NALCN	CCDC8	KAT6A	PEX19	KCNJ1	SPOP	RRAS	MRAS	OBSL1	CEP57	PIK3R1	POC1A	TMEM94	UNC80	LARP7	TRPS1	FANCC	RIT1	LEMD2	DCAF17	PRPS1	JAG1	KCNJ2	MED12L	POLR3A	SEC31A	TNNI2	MTX2	TRIP13	PSMD12	PTF1A	MAFB	NECTIN1	RERE	STAG2	SLC45A1	SMC1A	GMPPA	SCUBE3	PPP2R5D	FKBP10	PIEZO2	PQBP1	NOTCH2	PYCR2	CLCNKB	TRIM37	KRAS	PUS7	PAX7	RAF1	EBF3	EMC10	PRKG2	AP1S2	ATP6V1A	ERCC6	MED13L	TAOK1	ZMYM2	EPG5	ZNF148	SYNGAP1	MYCN	ELN	TBX2	BUB3	TNNT3	SPRTN	SRCAP	MED12	NRAS	BSCL2	IGF1R	CAV1	H4C5	TRMT5	SPRED2	FBLN5	SOS2	SMARCA2	CDK10	COL1A1	FOCAD	PYCR1	GRB10	FANCI	RAI1	HERC1	NFIX	RASA2	SLC25A24	CDC6	BPTF	FBN1	MAP2K1	CDKN1C	LZTR1	GJA5	AGPAT2	COL1A2	NSD1	PAPPA2	BSND	LEMD3	HUWE1	ANKRD17	MCTP2	SOX6	SERPINH1	GJA8	MYH3	BRAF	PEX13	IFITM5	SIN3A	NONO	ORC6	FLCN	PLOD2	SOS1	GBA1	BUB1	SMARCAL1	TALDO1
HP_ABNORMALITY_OF_THE_MAXILLA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MAXILLA	PIK3CA	KDM5C	ERF	TWIST2	CTSK	SLC12A6	LTBP3	IL11RA	PITX2	ARSL	FGFR2	UBB	ZBTB20	ARHGAP29	FBN1	GRHL3	LBR	EDNRA	SRCAP	RIPK4	PTCH1	KCNJ5	POLR1C	SLC25A24	FGD1	WRAP53	MEG3	RAB23	ORC1	TERT	POLR1D	TCOF1	PAX3	PRKAR1A	UPF3B	CDT1	FOXC1	FGF3	ORC6	DLK1	TBC1D2B	TWIST1	CHSY1	DKC1	GPC4	WDR26	COL2A1	SF3B4	NHP2	ALX3	AP2M1	SCARF2	EDA	ALX1	CDH11	MMP2	PDGFRB	NOP10	SF3B2	PDGFRA	PARN	PEX19	DCHS1	POLR1B	MED12	TRMT1	NFIX	PQBP1	TP63	SKI	IRF6	TINF2	STAMBP	B3GLCT	FGFR3	VPS13B	POLR1A	FGFR1	ORC4	RTEL1	CDC6	KCNJ2	TYMS	ADAMTS10	SIX3	PRKACA	SMOC1	FAT4	HBB	CREBBP	RAB3GAP2	KIFBP	PYCR2	ZDHHC9	GJA1	EP300	SEC23A	BGN	SON	RPS6KA3	GORAB	NECTIN1	PDE4D	BMP2	MAFB	CDC45	CDH1	EFTUD2	RTL1	SMAD4	COL11A1	TUBGCP2	ABL1	USB1	CTC1	EFEMP2	TMCO1	GLI2	UBE3A	BMP4	NPM1	SIN3A	SOX5	IFIH1	RUNX2	HRAS	FLNB	MSX1	DLX4	GMNN	SNRPN	COLEC11	SOBP	COL5A1	NRAS	PTEN	DLG1	ZBTB11	TERC	AKT1
HP_FACIAL_HEMANGIOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_HEMANGIOMA	CCDC22	OFD1	RASA1	RBM8A	DHCR7	GNAQ	ESCO2	GNA14	MGAT2	POR	EPHB4	SLC26A2	WASHC5	GLI3	SETBP1	CD96	ASXL1	RECQL4	PPP1CB	STAC3
HP_SHORT_CHIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_CHIN	NRCAM	DDR2	ITCH	H19	RNF13	ZNF292	IGF2	NSD2	PPP1R21	CAMK2B	DST	NSUN2	ZBTB24	FBXO31	PAPPA2	FIG4	BMPR1A	PTF1A	COA6	ERCC8	SCUBE3	ERCC6	XRCC4	ERCC1	ALG13	RECQL4	SET	MAN1B1	ASXL3	SOX11	MBD5	ABL1	CYP26C1	ARID1B	MTOR	NDUFS4	TRIO	COX7B	CDK10	NFIA	SLC26A2	GRB10	EBF3	AP1S2	EDA	MYOD1	RNU4ATAC	MED12	ERCC4	ZMPSTE24	PIGS	PTEN	ALDH1A2	PRKDC	SHANK3	VAC14	FLNA	LMNA	MAP3K7	MEF2C	PARS2
HP_PROMINENT_SUPRAORBITAL_RIDGES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_SUPRAORBITAL_RIDGES	FLNA	SP7	SEC23A	PITX2	PTH1R	PHF6	ABCC9	LMBRD2	RBMX	PHF8	LBR	IDS	FBXO31	AP1G1	FOS	LAS1L	PPARG	MAP3K7	FGFR1	BSCL2	MAP2K2	FREM1	UBE2A	POLR3A	OPHN1	PRR12	CHD8	GRIA3	FHL1	COL11A2	EDA	KCNJ8	PAK3	ERCC4	ARX	PSMC3	PIK3R1	TOE1	HDAC8	ZSWIM6	TAF1	SOST	CAVIN1	CAV1	SUZ12	RPS6KA3	SHANK3	AGPAT2	PDGFRB
HP_BROAD_FOREHEAD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_FOREHEAD	PIGN	LRP2	PPM1D	TBX1	HBA1	MEF2C	ODC1	VPS37D	BMP1	HES7	ACTL6B	DEAF1	ZBTB20	FGFR2	CDKL5	GPC4	NSD1	KCNJ5	NKX2-5	ALDH18A1	IDH1	CCBE1	ADAMTS3	WASHC5	TUBG1	PTPN11	FAT4	AMMECR1	WAC	METTL27	MBD5	TCF12	THOC2	NKX2-6	AIP	TBC1D7	TET3	GTF2IRD1	TENT5A	YY1	B4GALT7	TCTN2	CCDC8	SHOC2	NARS1	OBSL1	BMP2	JAG1	HOXB1	KCNJ2	CITED2	POLR3A	BCL7B	MLXIPL	STEEP1	SLC6A8	NCF1	NIPA1	PAK1	SUZ12	IQSEC2	TWIST1	GDF1	SH3PXD2B	MKS1	FKBP6	FLII	EED	DLK1	RFC2	ABL1	NOTCH2	DPH5	TBL2	CHST3	SKIC3	IGBP1	RTL1	PEX3	BRPF1	GTF2I	TAB2	EBF3	EMC10	IFIH1	RAI1	RUNX2	GJA5	GATAD2B	GATA6	MEG3	CLIP2	GATA5	CDH2	COLEC11	KANSL1	RNF135	GATA4	MESP2	STX1A	SATB2	MAN2B1	KRAS	ZIC2	DNAJC30	PCGF2	ELN	SH2B1	DLL3	CDC42BPB	LRP5	SPTBN1	CAMTA1	KIF7	EZH2	CUL7	PTDSS1	ZIC1	PPP2CA	RECQL4	SETBP1	DNMT3A	POLE	FBLN5	SKIC2	MADD	ZFPM2	NRAS	RPL10	FGD1	CDH11	TTC5	FLT4	PRIM1	NIPA2	TAFAZZIN	BUD23	NFIX	CKAP2L	CCDC22	SLC25A24	PRKACB	BAZ1B	FBN1	MAP2K1	TFAP2B	FLNA	FUT8	PIK3CA	CHST14	CASK	EIF4H	NAA10	PYCR1	GTF2IRD2	LIMK1	ACTG2	MED13L	SIM1	HBA2	SCNM1	KDR	NF1	GPC3	PSPH	LFNG	RLIM	UNC80	PIGU	TMEM270	KCNH1	BRAF	NFIA	SIN3A	RIPPLY2	B3GAT3	HRAS	FGFR3	SMAD2	THOC6	FLCN	PTEN	GPR101	POGZ	CCNQ	ANTXR1	TBCK	RBM8A	WBP11
HP_HYPOMIMIC_FACE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOMIMIC_FACE	SLC6A3	TECPR2	VPS35	SLC18A2	JAM2	SLC25A4	SLC30A10	DNAJC6	SNCA	PLA2G6	PRDX3	ATP1A3	SLC39A14	ATP13A2	ATP6AP2	CLTC	TXNL4A	DNAJC13	MYMX	RRM2B	CC2D1A	KCNK9	FBXO7	DDHD2	GBA1	SPR	POLG2	PODXL	GIGYF2	PLAA	TWNK	FTL	SYNJ1	LRRK2	EIF4G1	POLG	OGDHL
HP_SLOPING_FOREHEAD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLOPING_FOREHEAD	ADAT3	TSEN2	ERCC6	MGP	FANCB	STIL	EIF2S3	IL11RA	SASS6	UBE2T	RPGRIP1	LTBP4	TXNDC15	PHC1	B9D2	KIFBP	TCTN2	TRAPPC10	CNOT1	RNU4ATAC	MCM7	GPKOW	XRCC4	PYCR2	TMEM107	CDK5RAP2	KIF14	NDE1	WDR62	LIG4	OCLN	SLC25A22	CPT2	PAK3	BUB1B	PLK4	SMPD4	SCN2A	GNAO1	STAMBP	TCTN1	PALB2	TRAPPC14	EXOSC5	ANKLE2	CEP135	ASPM	PSAT1	BRCA2	RBBP8	TRIM8	TRIP12	TRIP13	NCAPH	VIPAS39	CEP290	KNL1	TSEN54	KIF11	STAG2	PIGQ	QARS1	MKS1	ARX	DMXL2	TMEM237	KIF7	VPS33B	TMEM216	RAD51C	ASXL3	KATNB1	TUBGCP2	FANCD2	PCNT	KAT6B	POMT1	ZNF526	WDR73	MAD2L2	NUP107	CENPJ	COPB2	NFIX	FANCA	FANCI	ATR	RUNX2	CCDC88A	TUBGCP6	B9D1	DDX11	UGP2	COASY	ASNS	BRIP1	PHGDH	ZNF335	NCAPD3	RELN	CIT	RFWD3	RBM10	XRCC2	SIK1	GLI3	SC5D	ZIC2	KCNA1	CSPP1	TAF13	NSUN2	FKBP14	CTSD	BUB3	SCN1B	SETBP1	CEP57	OSGEP	FKRP	RTTN	ACER3	PCDHGC4	NBN	GRM7	TTI2	TCTN3	TUBGCP4	TSEN15	POMT2	C2CD3	PRUNE1	BRCA1	EXOC2	TMEM67	CEP152	EMG1	CDK6	COG4	NCAPD2	FANCF	CDKL5	TSEN34	CENPE	PAH	MCPH1	TMEM231	PARS2	CAMK2B	FANCM	PHF8	CASK	SLX4	MFSD2A	DYNC1I2	FKTN	ERCC4	FANCL	TBCK	GRIN1	WLS	PIGP	METTL5	NEUROD2	RRP7A	FANCE	FANCG	LARGE1	CEP63	NHEJ1	CC2D2A	SLC25A19	VARS1	RAD51	BUB1	FANCC	SEPSECS	PNKP	RPGRIP1L
HP_NARROW_FOREHEAD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_FOREHEAD	AMPD2	LIG4	ZIC2	NPAP1	PRKAR1B	MN1	CDKL5	RNF13	SLC12A6	GPAA1	KDM4B	CTCF	KCNK4	SNORD115-1	HS2ST1	SPTBN1	PIGB	NF1	SNRPN	NAA20	GPT2	OSGEP	MKRN3	IER3IP1	VPS53	PWRN1	DTYMK	GNB2	PURA	NBAS	AP4B1	BRAF	AP4E1	RYR1	MEIS2	DOCK7	SNORD116-1	PWAR1	GNPTAB	SETBP1	MTSS2	CAMK2G	IFT140	FRMD4A	ELN	SMG9	SPATA5L1	SPRED2	MAP2K2	SPOP	ADAM22	MYO18B	TCF4	COL18A1	SLC12A2	AP4M1	H3-3A	KCNK9	MADD	PUF60	TRAPPC4	SLC25A46	CCDC47	LETM1	CDH11	MYOD1	H4C9	PIGY	SHOC2	KAT6A	DYRK1A	NUP133	DCHS1	SMPD4	SUOX	NUP107	BMP2	ATRX	TNPO2	PIGT	LZTR1	CTU2	NEXMIF	TRMT10A	NUP188	COG7	MAPK1	RELN	ASXL1	AFF4	LGI4	CDC42	NRCAM	ASPM	PYCR2	RARS2	LMNB1	FUT8	PPP1R21	KATNB1	SON	GON7	MAPKAPK5	CAMK2B	SLC16A2	GTPBP2	PIGN	DHCR7	MAGEL2	PPP1R15B	NDE1	TBCD	TBC1D24	SMC1A	QARS1	USP9X	SOX6	RBBP8	MED13L	PPP2R3C	SIM1	SERPINH1	NAA10	TBCK	FAT4	DLK1	TUBGCP2	WDR35	PSPH	DPH5	PPP2R5D	LAGE3	DDX6	TMCO1	PIGU	RTL1	CARS1	ATN1	RAB3GAP1	ATP6AP2	SMARCD1	MLXIPL	CCDC88A	PUM1	AP4S1	ZNHIT3	HERC2	UGP2	MEG3	BICRA	AMER1	SPEN	TRAPPC9	EPG5	SC5D	ZNF148	PPP1CB
HP_LONG_PHILTRUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_PHILTRUM	PIGN	PCLO	CHRNG	IARS2	VPS37D	NSD2	BMP1	CTCF	CUL7	HES7	KIAA0753	PDHA1	LTBP4	GNE	ZNF699	CASZ1	COL11A1	IDH1	DYNC2I1	CANT1	KRAS	EXTL3	GNPTAB	FAR1	FZD2	WDR35	BRCC3	MEGF8	ATP6V1A	SPECC1L	TRIM8	DHCR7	HSPG2	PEX26	COX7B	ATP6V0A2	GP1BB	TRAPPC4	ATP6V1E1	FBN1	TET3	TAF8	ANKRD11	EXT1	CAMTA1	MED12	RREB1	CCDC8	OBSL1	BMP2	SMC1A	SLC26A2	TAF1	EXOC7	PHIP	SCN1A	YARS2	DSE	AP2M1	CREBBP	GJA1	DYNC2H1	MLXIPL	TNNI2	SATB2	H3-3B	MTX2	LMNB1	DVL1	HSD17B4	NARS2	TRPS1	AP1G1	KAT6B	RIN2	KIF11	TBX1	PRDM16	STAG2	PPP2R5D	NALCN	APC	CLTC	PTH1R	FKBP6	TBCE	KMT2A	SKIC3	COG1	ARID1A	BAP1	POLR3A	TRIO	PDPN	KLHL41	BRPF1	CHD8	CDC42	ATN1	NEK9	EIF2S3	PDE4D	POU4F1	LTBP3	ATP6V1B2	CLIP2	MPC1	MOCS1	PRKDC	CDH2	ZC4H2	USB1	SPEN	PTEN	GPC6	MESP2	ACTG1	MID1	ROR2	EXT2	PPP1CB	SC5D	FGFR1	SOX9	RAD21	CCNK	SLC9A7	EXOSC2	KDM4B	DLL3	TMEM147	CSGALNACT1	PIGB	MAF	KIF7	EZH2	COL2A1	COL11A2	GABRD	CHD2	CNOT1	ADNP	NBAS	IGF1R	UBR7	ABCC9	ALG11	CTNNB1	ARHGEF2	ATP7A	SPRED2	TASP1	EXOC2	CBL	TBC1D20	ACTB	CDK10	MADD	WNT5A	CDH11	TTC5	LTBP1	CHST3	PAH	SRCAP	B3GLCT	NFIB	PRMT7	TNPO2	PIGT	SLC6A17	MMP23B	MAPK8IP3	TRMT10A	COMT	BAZ1B	AFF4	ELN	DVL3	CLCF1	ZMIZ1	SEC24C	NOTCH2	NEB	RIC1	KCNJ11	CASK	FLI1	EIF4H	TPM3	MYH3	B3GALT6	XYLT1	NAA10	HUWE1	MAPRE2	C12orf57	TMEM53	TENM3	PUS1	NXN	GJA8	EXOSC1	METTL5	LFNG	OCRL	SMARCA2	KCNH1	PLPBP	PUF60	HRAS	SMARCB1	SNRPB	SYNE1	SYNGAP1	ANTXR1	SHANK3	NRAS	BRD4	ERCC6	WARS2	RPL10	CLCN3	TRIP11	NF1	MYMX	NSD1	MAP3K7	MEG3	AVP	BCOR	FLNA	METTL27	SKI	HDAC8	FGF3	ARID1B	INPPL1	MTOR	ADSL	GTF2IRD1	OCLN	MYOD1	SHMT2	OSTM1	CLCN6	ARX	IFT80	POC1A	TMEM94	GLIS3	XYLT2	PMM2	SNX14	AP3B1	OTUD6B	MAP2K2	MAPK1	BCL11B	PIGQ	SNAI2	MRPS28	MAB21L2	BCL7B	MEIS2	SLC2A10	NEXMIF	TMEM70	IFT81	NOTCH3	SEC23A	PPP1R21	TRIP12	MYMK	NCF1	SUZ12	FBXO11	PPP1R15B	BRF1	LUZP1	SIN3A	GLB1	CPLX1	CD96	RFC2	PYCR2	BRAT1	TBL2	MUSK	GTF2I	DYNC2I2	TUBB	SMG8	RNU4ATAC	KCNAB2	ABCC8	PLAA	MARS2	UGP2	CRTAP	MOCS2	RNF135	ARSK	EPG5	ADAMTSL2	STX1A	SLC2A1	DNAJC30	TBC1D24	AARS1	RERE	B4GALT1	NIPBL	NLRP1	HIRA	PCDHGC4	KARS1	KIT	ALG13	PRKCZ	BRAF	CAMK2G	SETD5	TAF6	ALDH6A1	RAC3	MYO18B	NSRP1	DLK1	H3-3A	ARVCF	ALG9	TOR1A	FGD1	METTL23	SMC3	KCNJ8	RAI1	BUD23	SETBP1	EED	CRLF1	INTS1	ACTA1	SLC25A24	CDC6	IRX5	SMOC1	PKDCC	RAB3GAP2	PPP1R12A	GJA5	CHST14	UBE4B	ALG8	PYCR1	GTF2IRD2	LIMK1	HPDL	USP9X	PPP2R3C	RTL1	POR	TMEM270	JMJD1C	PTCH1	RIPPLY2	MAB21L1	B3GAT3	GAD1	PIEZO2	MAP2K1	FGFR2	SLC6A1	TBCK	UFD1	BUB1B
HP_HIGH_FOREHEAD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_FOREHEAD	UBA2	ADAT3	HBA1	MEF2C	SZT2	VPS37D	IFT122	NSD2	WDR4	IL11RA	CTCF	CUL4B	TBX1	MMACHC	SCN8A	FGFR2	EEF1A2	DNM1	HNRNPU	LBR	FGFR1	HIVEP2	PEX3	GABRA5	CACNA2D1	ZIC1	NECAP1	CDK19	ETFA	KMT5B	CACNA1B	BMP4	IFT52	WASHC5	KRAS	CBL	XRCC4	GNPTAB	FGF13	CTBP1	RRAS2	METTL27	CDH1	ATP1A3	IFT140	PEX5	SYNGAP1	PEX14	SATB1	TRPV4	AP3B2	SHPK	RNF113A	PEX26	CNKSR2	INPPL1	PEX10	SETD2	THOC2	COX7B	FGFRL1	DHDDS	GLI3	PTPN11	TBL1XR1	TET3	GTF2IRD1	NTRK2	MYOD1	CPT2	BUB1B	PIK3CA	MED12	RRAS	MRAS	ARX	POC1A	FGF12	CPLX1	PEX1	ACTL6B	RIT1	IGBP1	FGFR3	PHIP	MAP2K2	SIX2	MAPK1	STIM1	MED12L	PEX6	ZDHHC9	BCL7B	MLXIPL	SMAD3	H3-3B	CACNA1A	MTX2	HSD17B4	PPP1R21	SLC38A3	PEX19	NCF1	TRIP13	LETM1	YWHAG	FBXO11	TWIST1	ZC4H2	RIN2	CTNND1	SCUBE3	KNSTRN	SH3PXD2B	PURA	TCF20	APC	BPNT2	PIK3CD	PPP3CA	FKBP6	NPHP3	ACTB	ATAD3A	TBCE	RFC2	KMT2A	DPH5	DVL3	TBL2	PEX13	TRIO	SATB2	ETFB	CDH11	ATN1	GTF2I	EBF3	GABRB2	GHR	AP1S2	PIGG	SETD1A	ATP1A2	TAOK1	FRMPD4	PARS2	PEX12	CLIP2	SUPT16H	PEX11B	PIK3R2	THOC6	KANSL1	NEU1	PEX2	GH1	NELFA	KCNA2	ATP6V1B2	GABRA2	MAF	EXT2	PEX16	STX1A	SKI	PPP1CB	SLC1A3	ZIC2	DNAJC30	SOX9	ERF	CDKL5	EXOSC2	GATA4	BUB3	SETBP1	CDC42BPB	LRP5	SPTBN1	CENPJ	CEP57	DHX30	GNPAT	FBN1	FIG4	PDCD6IP	YWHAE	NRAS	ODC1	GNB2	GALNT2	SCN3A	PAFAH1B1	ALG11	BRAF	GMNN	CAMK2G	UPF3B	DALRD3	ALDH6A1	ATP7A	SYT1	NSRP1	SOS2	HIC1	H3-3A	MADD	MAN2C1	FOCAD	SPRED2	SETD5	TAFAZZIN	AKT3	BUD23	NFIX	NFIB	WWOX	WDR37	PIGT	AARS1	RASA2	TRAK1	GABRG2	HCN1	VAC14	RAF1	BAZ1B	KCNB1	MTM1	ELN	CLTC	ANKRD11	ATP6AP1	LZTR1	GJA1	UBE2A	STRADA	NSD1	DVL1	TMEM237	FLI1	ETFDH	GRIN2D	CCND2	EIF4H	POLR2A	NAA10	ORAI1	AP1S1	GTF2IRD2	HUWE1	LIMK1	SCN1A	SOX6	ATP6V1A	SLC13A5	EPB41L1	CRIPT	SERPINH1	HBA2	SCNM1	WDR35	EXOSC1	TP63	UNC80	PIGU	CARS1	TMEM270	MDH1	KCNH1	WLS	GABBR2	MTOR	ARV1	CYFIP2	SIN3A	PRDX1	CELF2	UBA5	MAP2K1	NUS1	MED25	HNRNPH1	DIS3L2	SLC1A2	FZR1	SYNJ1	LMX1B	BCORL1	NXN	SOS1	ANTXR1	BUB1	RBM8A	ARID2
HP_WIDOW_S_PEAK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDOW_S_PEAK	ALX3	EFNB1	LRP2	SPECC1L	DEAF1	ATP6V1B2	RERE	FGD1	DHX30	MID1	ALX1	GDF11	SLC35C1	TWIST1	HEATR3	SYT1	SATB1	FLNA
HP_SMALL_FOREHEAD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_FOREHEAD	KDM5C	SNX14	NGLY1	NDE1	IFT57	DMXL2	NAA20	RELN	PIGN	CDK5	KATNB1	TFAP2A
HP_ABNORMALITY_OF_THE_OUTER_EAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_OUTER_EAR	GABRA3	ODC1	VPS37D	TMCO1	BMP1	HS6ST2	CTCF	HS2ST1	CPLANE1	HOXA2	RPGRIP1	LBR	OTX2	KYNU	GNE	UBA1	ZNF699	RNASEH2C	FAT4	RNU4ATAC	NDUFB11	PTPN11	LMOD3	FAR1	AP3D1	FKRP	PGAP1	FZD2	CDT1	BRCC3	DPYSL5	MEGF8	SPOP	CLCNKA	SIX1	PEX10	FBXW11	GP1BB	ADA2	SLC39A8	ZIC3	TAPT1	MECP2	ANKRD11	WAC	CCDC8	PQBP1	CAMKMT	STAMBP	LARP7	ZNF407	FGF20	NIN	COL6A2	RNASEH2B	RPS29	NRCAM	POLR3A	CDC6	SLC3A1	LZTR1	TOPORS	BRCA2	DHODH	DVL1	SMCHD1	HSD17B4	RPL35A	TRPS1	CHN1	NIPA1	PIGN	PSMD12	RUSC2	WNT4	WARS2	RPL26	ERCC8	TCF20	PTH1R	C12orf57	FKBP6	VPS33B	KATNB1	TUBGCP2	KMT2A	ABHD5	HSPG2	KDM5C	IGBP1	MKS1	COG1	BAP1	KLHL41	BRPF1	CHD8	ATN1	CHD7	ACP5	ATP6V1A	NEK9	GNB1	FLNA	POU4F1	RECQL4	GRIA4	POMGNT2	TPRKB	PIK3R1	ASNS	AEBP1	EBP	CDH2	EFL1	TRRAP	SCYL2	MAFB	LIPN	EXT2	FBN1	PPP1CB	PCGF2	MYCN	CAMTA1	NGLY1	CUL4B	ERMARD	EZH2	KDM6A	GABRD	STXBP1	KLF13	PTDSS1	LAS1L	GJB3	GALNT2	KCTD1	NBN	IGF1R	MEIS2	CHAMP1	TCTN3	GSC	TCOF1	KMT2D	FOXG1	FRMD4A	TCF4	UBE3B	CBL	EFTUD2	SLC9A6	SLC25A1	ZNF423	ABCA12	WNT5A	RSPO2	ALX3	KIAA0586	INSR	TTC5	TGDS	GPC3	KIF15	CCDC32	PAH	SPEG	SRCAP	TNPO2	WDR37	TBX1	CTU2	ASXL1	CCDC22	DVL3	DOK7	FGFR2	NDST1	TRAF7	NOTCH2	EP300	PHF6	RPGRIP1L	KCNJ11	MAN2B1	TMEM237	FLI1	ETFDH	BSND	PGAP3	EIF4H	SHANK3	TTI2	CPOX	PEX3	TTC8	TCTN2	MCTP2	SOX6	DYRK1A	NXN	PIGO	METTL5	DCPS	UNC80	BRAF	HYMAI	IGF2	KCNH1	MRPS2	SPART	CEP290	PEX1	MAGEL2	TRIP11	WASHC4	SYNE1	PTF1A	FDFT1	TRAPPC9	ATIC	ASPRV1	PHIP	CNOT3	PPM1D	NEK1	HBA1	KATNIP	KAT5	WDR4	MMACHC	SHOC2	NF1	FGFR1	HMGA2	MAP3K7	MEG3	GPKOW	CTBP1	AMMECR1	RRAS2	METTL27	INPP5E	SATB1	ARMC9	TSHZ1	INPPL1	GREB1L	SMOC1	CCDC47	H4C3	MYOD1	BUB1B	TMEM231	NARS1	PAX1	ARX	GLIS3	CPLX1	SLC5A7	PMM2	GRIA3	OTUD6B	SIX2	BICD2	TBC1D20	CHMP1A	PAICS	SLC6A17	YME1L1	STEEP1	TRAIP	IFT81	GON7	NCF1	SUZ12	FBN2	NUP88	RAB3GAP2	PPP1R15B	WFS1	SLC6A9	RERE	PIGV	VPS37A	SDCCAG8	TMEM216	SMAD4	RAC1	KAT6B	PEX13	HRAS	KRAS	NECTIN1	MUSK	OGT	KIF7	GPC6	FANCI	AP1S2	SMG8	ERCC6	MLXIPL	TAOK1	TUBGCP6	B9D1	TOE1	MARS2	UGP2	PEX11B	PHGDH	MAPK1	CEP55	ALG6	CENPE	SKI	ROR2	MYH3	HNRNPK	FIBP	ADSL	ERCC3	GATA4	ATRX	NUP133	PLAGL1	ADAM17	TRIM32	RNASEH2A	VPS53	FAM20C	SLC18A3	GPC4	HIRA	CAPN15	EIF4A3	CACNA1C	SLC1A4	TOGARAM1	HDAC6	SETD5	AFF2	NUP85	TWIST1	CEP152	ARVCF	MRPL12	ALG2	ALX1	FANCF	TAFAZZIN	PAFAH1B1	CARS1	TRMT1	NFIX	PITX1	CEP104	ITGA8	NEXMIF	PEX2	KMT2B	TNNI2	MAP2K1	CDKN1C	CHD3	SH3PXD2B	SEMA5A	RAB3GAP1	PPP1R12A	RNF113A	CLCF1	MSX2	LIFR	UBE2A	FANCM	NSD1	ZBTB18	RAI1	UBE4B	EYA1	DACT1	ALG8	MESD	PEX26	PIGW	PIGA	RPS17	CASK	ATP6V0A2	ANK1	NAA10	POR	SLC25A24	SAMHD1	PIGU	USP9X	RNF2	B3GAT3	FANCE	IGLL1	GAD1	FAM149B1	CHST14	FGF3	GFRA1	COL5A1	GTF2H5	FANCB	NSD2	HES7	UGDH	RBMX	GPT2	CASZ1	KIAA0753	ADGRG6	IPO8	IDH1	ORC1	WASHC5	PLOD1	RPS24	IFT140	PEX5	COL11A2	ARL3	RPS27	NPHP1	LONP1	CBY1	BBS5	TBL1XR1	TET3	EXT1	ALOX12B	GJA1	RREB1	ALG3	BMP2	HMX1	TAF1	RIT1	EXOC7	DIS3L2	ALG12	CDCA7	DDR2	ASXL2	NARS2	CHRNG	SLC6A8	DST	NDP	B9D2	TP63	HSPA9	YY1	RALA	NALCN	POU3F3	AGO2	HYLS1	PRDM16	KNSTRN	COLEC11	C2CD3	MAN1B1	RAD51C	PIEZO2	TBCE	PCNT	KAT6A	SKIC3	FOXL2	ETFB	CEP41	RAF1	FOXP1	PRKG2	FANCA	ATR	SMARCD1	MED13L	EVC	FRMPD4	PDE4D	SLC2A10	HDAC8	SLC37A4	PRKDC	ZC4H2	NEU1	CC2D2A	PTEN	CEP120	MESP2	ZNHIT3	MID1	NUP107	PEX16	LMNA	ENPP1	ZNF148	NSDHL	ZIC2	BBS2	COL6A3	SOX9	SYNGAP1	KDM4B	SPTBN1	FREM1	COL13A1	PRUNE1	RTTN	GPX4	CDC45	ITGA6	EVC2	ZMYND11	GMNN	SOX11	PNPLA6	OSGEP	SPRED2	MEOX1	CNOT2	EXOC2	CSGALNACT1	MBTPS1	CHAT	MPLKIP	PIGY	NIPA2	EDN1	PIGT	CDK13	MMP23B	FLNB	POLR1A	TCTN1	AFF4	ELN	ERCC1	FKTN	SF3B4	RARB	FTSJ1	AKT1	POLA1	PSAT1	B4GAT1	RAB5IF	NEB	RIC1	ERLIN2	CHRNA7	TPM3	B3GALT6	ALX4	ERCC4	ERBB3	TENM3	HBA2	COL2A1	RBBP8	LFNG	TLK2	OCRL	PLVAP	SMARCA2	BRF1	ALDH18A1	AUTS2	KCNN3	CNTNAP1	SMAD2	LARGE1	GPR101	CILK1	ACOX1	RPS7	KCNQ1OT1	CCNQ	ANTXR1	RSPRY1	POLE	ERCC2	EIF5A	ADAT3	TP53RK	BLM	CLCN3	AFF3	SOX5	COG5	HIVEP2	CCBE1	BBS10	PLCH1	TTN	TMEM107	SPEN	ECE1	AHI1	KLHL40	RAB18	SLC26A2	SMG9	WNT3	PREPL	COX7B	LZTFL1	THUMPD1	PHACTR1	NDE1	OCLN	H4C9	MINPP1	NHS	CEP57	RPL15	FGFR3	PRPS1	RPL11	DSP	CDC42	TMEM70	MRPS28	EEF1A2	BCL11A	NOTCH3	VPS13B	SPECC1L	GTPBP2	LETM1	CANT1	DHCR7	FBXO11	PSMB8	POMT2	MGP	RAB11B	TBCD	DLK1	LUZP1	PIK3CD	GLB1	MBTPS2	TXNL4A	EED	RPS10	PYCR2	EFEMP2	CLCNKB	GATA1	MYMX	POMT1	ARL13B	DOCK7	TUBB3	PLK4	GTF2I	TAB2	AHSG	SLC25A12	RALGAPA1	PEX12	PLAA	CENPJ	ZMYM2	MYO9A	KCNQ1	CSNK2A1	ITGB4	CTSD	ALMS1	ZNF292	CDC42BPB	PLCB4	BCR	ATP6V1E1	PTCH1	KAT8	RAB23	CAV1	COLEC10	PLAG1	ANAPC7	WDR19	CACNA1G	LMX1B	IFT74	UPF3B	ITGB6	TARS1	MAN2C1	CHST3	ITCH	FN1	ASH1L	LRP4	EGFR	LRRC8A	IRX5	STT3A	DYNC2LI1	MCM5	SON	GRIP1	PEX14	OBSL1	DPH2	VANGL2	RYR1	B3GLCT	PLXNA1	DNAJC21	GTF2IRD2	LIMK1	MSL3	IFIH1	DHX37	PIGL	SIM1	HHAT	RTL1	SCNM1	DCAF17	CRLF1	TMEM270	KANSL1	KCNK9	WLS	CHRNA1	CLIC2	SIN3A	TBR1	ZMPSTE24	PSMC3	SEPTIN9	VSX1	GBA1	RBM8A	CD79A	ACBD5	AMPD2	LRP2	MN1	SEMA3E	BHLHA9	HECW2	ZBTB20	ETFA	PURA	BMP4	ADAMTS3	EIF3F	FRAS1	SALL4	EHMT1	EDEM3	VPS51	COL7A1	TSR2	RPS28	ZEB2	XYLT2	B4GALT7	RBM10	PTPRF	CSPP1	DAG1	HOXB1	KCNJ2	PALB2	DSE	TUBA1A	TWIST2	CREBBP	ANTXR2	RPS6KA3	TRIP13	PIEZO1	GLE1	DPH1	VIPAS39	AP1G1	TMEM218	TBX22	FGF10	KIF11	STAG2	MACF1	PPP2R5D	CLTC	SULT2B1	GLI2	TRIO	ZNF526	MAD2L2	EBF3	COL4A1	KIF1A	EIF2S3	SUFU	FMR1	BRIP1	SUPT16H	MAP1B	DHCR24	SDR9C7	SATB2	MAP2K2	CRPPA	IL1RAPL1	SRY	RAD21	EXOSC2	DHX16	DLL3	PIGB	PPM1B	MAF	FOXF1	IREB2	DHX30	LAGE3	RET	PIK3CA	ZBTB24	POLR1C	ADNP	UBR7	POLR1D	COL3A1	INTU	SRP54	ATP6V1B2	SALL1	MADD	GRB10	GK	CDH11	RB1	ERCC5	MTHFR	ADAMTSL1	LSM11	UMPS	MAPK8IP3	TRMT10A	COG7	VAC14	BAZ1B	RPS15A	SETBP1	ACAN	ZMIZ1	SEC24C	RPS23	PEX6	WDR73	MAPRE2	GJA8	PAM16	ZNF462	TCF3	SCAPER	PRR12	NFIA	PRDX1	HNRNPH1	SYT2	PKHD1	TRPV4	DPP6	BUB1	AMER1	FANCC	STRA6	PLEC	COL6A1	TMEM260	BRD4	MGAT2	KCNK4	QRICH1	EDNRA	KCNJ5	KIFBP	NANS	IFT52	SSR4	MBD5	STAG1	XYLT1	ORC6	THOC2	FGFRL1	HCCS	CPT2	SPRED1	PAK3	HMGB3	AHDC1	MRAS	BCL11B	SMPD4	CHD4	FANCL	JAG1	AP3B1	WNT7A	BCL7B	LMBRD1	ZNF711	PPP1R21	PEX19	CFAP418	HOXA13	BBS1	CRKL	RPL10	BCOR	DLX4	SMC1A	MED27	PORCN	TGFB3	PRRX1	OPHN1	SOS1	PAX7	TPM2	TUBB	BMPER	PIGG	ALG13	ABCC8	DOCK6	DDX11	BICRA	CHD5	RPL18	TMEM67	CIT	XRCC2	RPL31	HEATR3	TBC1D24	NSUN2	TBX2	AARS1	MYSM1	B4GALT1	SIX5	BMPR1A	GNAI3	ACER3	AP4E1	DLX5	GLI3	OFD1	PRKCZ	ANO1	MRPS22	CAMK2G	MYO18B	B3GALNT2	SBDS	NSRP1	MKKS	H3-3A	CHSY1	STAC3	PUF60	ALG9	RDH11	FGD1	SLC35C1	KIF14	DCHS1	BUD23	CD79B	SNAP25	ACTA1	PGAP2	ALOXE3	NUP188	NIPAL4	RELN	MEF2C	RPS20	CWC27	GJA5	AGPAT2	TMEM138	LMBRD2	TTC26	PYCR1	ACTG2	DHPS	SMARCD2	PPP2R3C	ADAR	WDR35	TBX15	SLC2A1	NTNG2	COL11A1	ORC4	JMJD1C	RIPPLY2	FOXP2	PUM1	FANCG	RAPSN	SMS	SNRPB	WBP11	UBA2	PCLO	BBIP1	PDZD8	AASS	IFT122	FBXL4	UBE2T	CNOT1	TUBG1	CEP19	DPYD	PIGK	MVK	DZIP1L	ATP2B1	LIG4	TBC1D23	MED12	POMK	NKAP	KCNJ1	RRAS	SUOX	DNMT3B	KDM5B	CD96	PHOX2B	FREM2	CHUK	BIN1	ZDHHC9	IGHM	KMT2C	TXNDC15	PAK1	QARS1	PACS1	SRD5A3	AGA	HDAC4	ASXL3	GTF2E2	ARID1A	PDPN	TGM1	SETD1A	CLIP2	FIG4	RFWD3	ACTG1	DPF2	TMEM165	RXYLT1	PDE6D	PRKAR1B	CCNK	BUB3	TMEM147	TFAP2A	ALKBH8	BLNK	NAA20	SOX4	ADAMTS18	NRAS	GNB2	TUBGCP4	POGZ	FBLN5	BRCA1	TASP1	CDK10	TNNT3	DONSON	SCARF2	CENPF	DDB1	SOST	RPS19	MRTFA	HELLS	WNT9B	COMT	BPTF	RMRP	LSS	PBX1	IFT27	SLC16A2	ACTB	ATRIP	USP7	IQSEC2	HUWE1	SET	BBS4	UQCRH	KDM3B	TBX4	VARS1	H19	ABCC6	CYP4F22	ITGA3	MPDZ	CTNND2	DDX59	RPS26	FANCD2	BBS12	RNU7-1	RHOBTB2	ATP6AP2	PIBF1	SLC12A2	ARID1B	AIP	GTF2IRD1	GNS	POC1A	TMEM94	SOD1	PIGQ	CHRND	CPE	GLUL	WDPCP	RPL27	TRIP12	MASP1	VAMP1	SPINT2	AIFM1	CTH	MRPS16	RFC2	DDX6	TBL2	PUS7	POMGNT1	BLTP1	FHL1	KCNAB2	TFE3	SIAH1	TREX1	ALDH1A2	MID2	NELFA	KDM6B	EPG5	ADAMTSL2	STX1A	RPL5	EXOSC9	DNAJC30	ESCO2	JUP	SLC12A6	NIPBL	CUL7	RIPK4	NR2F1	YWHAE	DENND5A	MITF	BSCL2	PCDHGC4	H4C5	SOS2	GJB4	TOR1A	GDF11	SMC3	PRIM1	SF3B2	HERC1	POLR1B	ARL6	IL6ST	BRWD3	LMNB1	INTS1	RASA2	SNAP29	LGI4	TFAP2B	EMC1	IFT172	SLX4	AGRN	BBS7	KDSR	PLOD3	BBS9	RPL35	MAB21L1	OTUD5	MED25	PIGS	APC	HOXD13	RAD51	MRPS14	CA2	UFD1	ARID2	TALDO1
HP_ABNORMAL_LOCATION_OF_EARS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LOCATION_OF_EARS	LRP2	MN1	GABRA3	SEMA3E	VPS37D	TMCO1	HS6ST2	CTCF	HS2ST1	CPLANE1	ALX1	ZBTB20	RPGRIP1	LBR	OTX2	KYNU	GNE	ZNF699	HYLS1	B9D2	EP300	PURA	RNASEH2C	BMP4	RNU4ATAC	ADAMTS3	EIF3F	FRAS1	PTPN11	LMOD3	AP3D1	FKRP	FZD2	CDT1	BRCC3	MEGF8	NSD2	EDEM3	PEX10	COX7B	TCTN3	GP1BB	ADA2	SLC39A8	ATP6V1E1	LETM1	ZIC3	TAPT1	RPS28	ZEB2	XYLT2	WAC	B4GALT7	TMEM237	SPOP	CAMKMT	SKI	RBM10	STAMBP	UNC80	LARP7	CSPP1	TAF1	DAG1	HOXB1	FGF20	KCNJ2	ZBTB18	DSE	TUBA1A	RNASEH2B	TWIST2	RPS29	CREBBP	NRCAM	POLR3A	CDC6	SLC3A1	LZTR1	TOPORS	DHODH	DVL1	HSD17B4	KIAA0753	ANTXR2	RPL35A	TRPS1	TRIP13	PIGN	PSMD12	GLE1	RUSC2	WNT4	DPH1	FGFR3	VIPAS39	WARS2	AP1G1	KAT6B	TMEM218	FGF10	STAG2	MACF1	PPP2R5D	MKS1	TCF20	PTH1R	C12orf57	FKBP6	CC2D2A	VPS33B	FGFR1	LARGE1	KMT2A	HSPG2	IGBP1	COG1	BAP1	COL2A1	KLHL41	CHD8	ATN1	CHD7	EBF3	COL4A1	ACP5	ATP6V1A	NEK9	GNB1	SUFU	POMGNT2	SUPT16H	EBP	CDH2	MAP1B	DHCR24	SPEN	EFL1	TRRAP	SCYL2	TMEM107	SATB2	MAP2K2	PPP1CB	CRPPA	SRY	RAD21	PCGF2	MYCN	EXOSC2	DHX16	DLL3	PIGB	CAMTA1	PPM1B	NGLY1	MAF	FOXF1	ERMARD	EZH2	IREB2	DHX30	GABRD	RET	STXBP1	ZBTB24	ADNP	GALNT2	KCTD1	RPL26	IGF1R	UBR7	MEIS2	CHAMP1	INTU	KMT2D	FRMD4A	UBE3B	CBL	EFTUD2	NOTCH3	MADD	SLC25A1	ZNF423	GK	WNT5A	RSPO2	ALX3	KIAA0586	INSR	CDH11	TTC5	TGDS	RB1	GPC3	ERCC5	MTHFR	TBCE	LSM11	UMPS	WDR37	TBX1	GPT2	CTU2	MAPK8IP3	COG7	VAC14	ASXL1	BAZ1B	RPS15A	SETBP1	CCDC22	DVL3	ACAN	PEX5	DOK7	ZMIZ1	SEC24C	TRAF7	RPS23	GPC4	PEX6	NOTCH2	RPGRIP1L	FLI1	SON	EIF4H	EDN1	NDE1	FKTN	PEX3	GBA1	TTC8	TCTN2	MCTP2	SOX6	MAPRE2	LRRC8A	NXN	GJA8	PAM16	METTL5	DCPS	BRAF	ZNF462	IGF2	KCNH1	SCAPER	SRCAP	PRR12	MRPS2	SPART	NFIA	PRDX1	CEP290	PEX1	MAGEL2	TRIP11	SOX9	FGFR2	HNRNPH1	SYT2	WASHC4	PTF1A	PKHD1	CCNQ	FDFT1	TRPV4	RAF1	ATIC	BUB1	AMER1	STRA6	CNOT3	TMEM260	BRD4	PPM1D	HBA1	KATNIP	MGAT2	KAT5	KCNK4	MMACHC	SHOC2	QRICH1	EDNRA	NAA10	NSD1	ERCC4	HMGA2	KCNJ5	MAP3K7	MEG3	IFT52	GPKOW	GATA1	RRAS2	METTL27	INPP5E	MBD5	STAG1	XYLT1	SATB1	ARMC9	ORC6	INPPL1	GREB1L	SMOC1	H4C3	MYOD1	CPT2	SPRED1	BUB1B	TMEM231	RTL1	HMGB3	AHDC1	NARS1	MRAS	BCL11B	ARX	SMPD4	GLIS3	CHD4	CPLX1	SLC5A7	FANCL	KRAS	JAG1	AP3B1	OTUD6B	WNT7A	SIX2	TBC1D20	CHMP1A	FLNA	PAICS	BCL7B	LMBRD1	IFT81	PPP1R21	GON7	CFAP418	NCF1	FAM20C	SUZ12	BBS1	NUP88	RAB3GAP2	NF1	BCOR	SLC6A9	RERE	DLX4	SMC1A	PIGV	SDCCAG8	TMEM216	SMAD4	RAC1	MED27	RECQL4	PORCN	HRAS	PRRX1	WDR73	MUSK	SOS1	PAX7	TPM2	OGT	KIF7	GPC6	TUBB	BMPER	PIGG	SMG8	ALG13	TAOK1	B9D1	DOCK6	MARS2	UGP2	PEX11B	GMNN	PHGDH	BICRA	CHD5	CEP55	RPL18	TMEM67	ALG6	RPL31	HEATR3	ROR2	MYH3	TBC1D24	ADSL	NSUN2	ELN	TBX2	GATA4	ATRX	PLAA	PCNT	MYSM1	B4GALT1	OSGEP	TRIM32	RNASEH2A	BMPR1A	SLC18A3	GNAI3	ACER3	HIRA	EIF4A3	GLI3	OFD1	PRKCZ	CACNA1C	ANO1	MRPS22	SLC1A4	TOGARAM1	HDAC6	CAMK2G	SETD5	POMT2	MYO18B	B3GALNT2	NSRP1	MKKS	DLK1	H3-3A	TWIST1	CHSY1	POR	STAC3	CEP152	WASHC5	ARVCF	MRPL12	PUF60	SF3B4	PTEN	ALG9	RPL10	RDH11	ALG2	ORC1	FGD1	KIF14	PAFAH1B1	BUD23	NFIX	PITX1	SNAP25	ACTA1	CEP104	ITGA8	SLC25A24	NUP188	KMT2B	RELN	MEF2C	NPHP1	MAP2K1	RPS20	AHI1	CDKN1C	CHD3	SH3PXD2B	SEMA5A	RAB3GAP1	PPP1R12A	CWC27	KATNB1	GJA5	TBL1XR1	CHST14	TMEM138	LIFR	RAI1	UBE4B	ALG8	TTC26	MESD	PEX26	RPS17	ACTG2	ATP6V0A2	DHPS	SMARCD2	PPP2R3C	SAMHD1	ADAR	WDR35	TBX15	PIGU	USP9X	NTNG2	COL11A1	JMJD1C	RIPPLY2	B3GAT3	GAD1	PUM1	RAPSN	FAM149B1	FGF3	GFRA1	CTBP1	WBP11	GTF2H5	UBA2	PCLO	BBIP1	PDZD8	CHRNG	IFT122	HES7	NSDHL	RIT1	FBN1	CASZ1	ADGRG6	IPO8	CNOT1	CEP19	RPS24	MVK	IFT140	COL11A2	DZIP1L	ARL3	DHCR7	RPS27	ATP2B1	RSPRY1	CBY1	BBS5	LIG4	EXT1	ZMPSTE24	RREB1	NALCN	KAT6A	POMK	MED12	RRAS	BMP2	HMX1	DNMT3B	SLC26A2	EXOC7	CD96	DIS3L2	TCTN1	PHOX2B	ORC4	FREM2	CHUK	POMT1	CDCA7	DDR2	ZDHHC9	GJA1	MLXIPL	ASXL2	TXNDC15	DST	YY1	RALA	PRDM16	QARS1	PACS1	SRD5A3	COLEC11	C2CD3	MAN1B1	ASXL3	SKIC3	PDPN	CEP41	CDC42	PRKG2	ATR	MED13L	SETD1A	PDE4D	ATP6V1B2	CLIP2	SLC37A4	FIG4	PRKDC	KANSL1	ZC4H2	NEU1	MESP2	DPF2	MID1	TMEM165	PEX16	ZNF148	RXYLT1	PDE6D	BBS2	PRKAR1B	SYNGAP1	CCNK	BUB3	KDM4B	TMEM147	CENPJ	TFAP2A	FREM1	COL13A1	FANCB	NAA20	SOX4	PRUNE1	ADAMTS18	NRAS	RTTN	GNB2	GPX4	CDC45	SOX11	POGZ	PNPLA6	SPRED2	FBLN5	CNOT2	TASP1	EXOC2	CSGALNACT1	CDK10	MBTPS1	CHAT	DONSON	SMS	SCARF2	CENPF	DDB1	CEP120	EYA1	TOE1	RPS19	B3GLCT	HELLS	WNT9B	FLNB	PIGT	CDK13	MECP2	MMP23B	B3GALT6	COMT	PAX1	RMRP	AFF4	ERCC1	RARB	AKT1	KIFBP	PSAT1	PBX1	B4GAT1	RAB5IF	KDM6A	IFT27	NEB	ACTB	USP7	TPM3	ALX4	HUWE1	PEX14	TENM3	SET	HBA2	LFNG	TLK2	OCRL	PLVAP	SMARCA2	BRF1	ALDH18A1	BBS4	AUTS2	CNTNAP1	SMAD2	SNRPB	CILK1	ACOX1	RPS7	VARS1	ANTXR1	POLE	EIF5A	ADAT3	ITCH	CLCN3	AFF3	SOX5	COG5	MPDZ	CTNND2	LMNA	DDX59	RPS26	FANCD2	CCBE1	BBS10	BBS12	RNU7-1	PLCH1	FAT4	ATP6AP2	ECE1	KLHL40	RAB18	SMG9	PIBF1	WNT3	SLC12A2	HDAC8	PREPL	ARID1B	LZTFL1	THUMPD1	PHACTR1	GTF2IRD1	OCLN	H4C9	MINPP1	GNS	CEP57	POC1A	TMEM94	RPL15	PRPS1	RPL11	MAPK1	SOD1	CHRND	TMEM70	MRPS28	EEF1A2	GLUL	WDPCP	BCL11A	RPL27	TRIP12	SPECC1L	MASP1	VAMP1	GTPBP2	SPINT2	AIFM1	CANT1	FBXO11	LUZP1	GLB1	MBTPS2	EED	MRPS16	RFC2	RPS10	PYCR2	EFEMP2	DDX6	TBL2	MYMX	PUS7	ARL13B	POMGNT1	BLTP1	TUBB3	GTF2I	TAB2	FHL1	KCNAB2	TFE3	RALGAPA1	PEX12	SIAH1	ZMYM2	TREX1	ALDH1A2	PEX2	NELFA	MYO9A	EPG5	STX1A	CSNK2A1	RPL5	EXOSC9	DNAJC30	ESCO2	CTSD	ZNF292	CDC42BPB	PLCB4	NIPBL	RIPK4	YWHAE	KAT8	MITF	PCDHGC4	RAB23	CAV1	COLEC10	TTI2	PLAG1	H4C5	CACNA1G	LMX1B	IFT74	UPF3B	SOS2	TSR2	PYCR1	CHST3	PEX19	SMC3	FN1	PRIM1	ASH1L	HERC1	KIF15	ARL6	IL6ST	INTS1	RASA2	PIEZO2	IRX5	TFAP2B	FOXL2	DYNC2LI1	MCM5	PEX13	GRIP1	IFT172	DPH2	AGRN	VANGL2	ANKRD11	BBS7	PLOD3	GTF2IRD2	LIMK1	MSL3	IFIH1	BBS9	SIM1	SCNM1	CRLF1	TMEM270	CHRNA1	RPL35	PTCH1	TBR1	MAB21L1	OTUD5	MED25	RYR1	PIGS	SEPTIN9	HOXD13	MRPS14	RBM8A	UFD1	ARID2	TALDO1
HP_POSTERIORLY_ROTATED_EARS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIORLY_ROTATED_EARS	PIGN	BCOR	LRP2	BBIP1	MN1	SEMA3E	VPS37D	HSPG2	TMCO1	CTCF	HS2ST1	HES7	NSDHL	KIAA0753	CPLANE1	ALX1	RPGRIP1	OTX2	GPT2	ACAN	ZNF699	CASZ1	B9D2	EP300	IPO8	BMP4	RNU4ATAC	ORC1	EIF3F	FRAS1	CEP19	KRAS	FGFR2	MVK	IFT140	FKRP	PEX5	FZD2	CDT1	MEGF8	ASXL1	NSD2	DHCR7	PEX26	PEX10	COX7B	TCTN3	GLI3	NPHP1	BBS5	TGDS	PTPN11	TBL1XR1	TAPT1	LIG4	ZEB2	XYLT2	WAC	EXT1	NALCN	KAT6A	POMK	SPOP	RRAS	CAMKMT	SKI	BMP2	RBM10	UNC80	SMC1A	RIT1	DAG1	CD96	TCTN1	PHOX2B	HOXB1	ORC4	MUSK	FREM2	DSE	TUBA1A	CEP290	NRCAM	POLR3A	CDC6	POMT1	SLC3A1	DDR2	LZTR1	TOPORS	MLXIPL	ASXL2	DHODH	DVL1	TRPS1	TRIP13	RUSC2	YY1	AP1G1	RALA	PRDM16	NUP88	NF1	QARS1	TCF20	C2CD3	FKBP6	CC2D2A	KIAA0586	ASXL3	FGFR1	TBCE	HRAS	LARGE1	CSPP1	KIF7	MKS1	COG1	COL2A1	PDPN	CHD8	CDC42	ATN1	CEP41	RAF1	EBF3	COL4A1	GLE1	GNB1	PDE4D	GNAI3	POMGNT2	CLIP2	SUPT16H	CDH2	TUBB	MAP1B	DHCR24	TRRAP	MESP2	DPF2	MID1	TMEM165	ROR2	PEX16	ZNF148	SATB2	MAP2K2	RXYLT1	PPP1CB	SRY	PDE6D	BBS2	RAD21	PRKAR1B	CCNK	MYCN	EXOSC2	DHX16	BUB3	KDM4B	DLL3	RERE	PIGB	CAMTA1	TFAP2A	PPM1B	MAF	FREM1	ERMARD	EZH2	DHX30	FBN1	NAA20	GABRD	SOX4	TMEM216	ADAMTS18	MED12	NRAS	RTTN	CHD7	ADNP	GPX4	GALNT2	BRAF	KMT2D	GMNN	SOX11	FRMD4A	POGZ	PNPLA6	SPRED2	CSGALNACT1	CBL	TMEM67	NOTCH3	CDK10	ZNF423	MBTPS1	WNT5A	ALX3	SCARF2	CDH11	CEP120	GPC3	B3GLCT	UMPS	ATRX	CDK13	MGAT2	MMP23B	B3GALT6	BAZ1B	RMRP	AFF4	ELN	ERCC1	FKTN	DOK7	GPC4	PEX6	B4GAT1	IFT27	TMEM237	FLI1	EIF4H	EDN1	HUWE1	PEX14	PEX3	GBA1	TTC8	MAPRE2	SET	HBA2	NXN	METTL5	LFNG	TLK2	OCRL	SMARCA2	KCNH1	SCAPER	SRCAP	BBS4	PEX1	SMAD2	SNRPB	SOS1	AMER1	FDFT1	TRPV4	BUB1	RPGRIP1L	BRD4	PPM1D	HBA1	ITCH	CLCN3	SHOC2	SOX5	COG5	MPDZ	NAA10	NSD1	TXNDC15	CTNND2	MYOD1	MAP3K7	TCTN2	MEG3	BBS10	BBS12	TMEM107	CRPPA	SPEN	KDM6A	ECE1	RRAS2	AHI1	METTL27	RAB18	DVL3	XYLT1	SMG9	SATB1	HDAC8	PREPL	ORC6	ARID1B	INPPL1	LZTFL1	SMOC1	GTF2IRD1	H4C9	CPT2	SPRED1	BUB1B	RTL1	MRAS	BCL11B	COL11A2	SMPD4	POC1A	TMEM94	CPLX1	AP3B1	SIX2	MAPK1	SOD1	TBC1D20	CHMP1A	FLNA	MRPS28	BCL7B	WDPCP	OFD1	CFAP418	NCF1	FAM20C	LETM1	SUZ12	CANT1	BBS1	FBXO11	RAB3GAP2	POMT2	ZC4H2	DLK1	PIGV	LUZP1	HYLS1	SDCCAG8	RFC2	RECQL4	KAT6B	TBL2	MYMX	PRRX1	INPP5E	RPS26	POMGNT1	BLTP1	NFIX	PAX7	GTF2I	FHL1	GPC6	PIGG	SMG8	KCNAB2	TFE3	B9D1	PEX12	PLAA	SIAH1	ZMYM2	PEX11B	BICRA	CHD5	NELFA	TMEM231	STX1A	MYH3	DNAJC30	ESCO2	NSUN2	PLCB4	CEP57	TRIM32	POLE	MITF	PRKCZ	MRPS22	IFT74	B3GALNT2	NSRP1	MKKS	SOS2	TOGARAM1	H3-3A	PYCR1	PUF60	SF3B4	PEX19	FGD1	SMC3	FN1	SLC26A2	HERC1	ARL6	BUD23	IL6ST	EED	PEX2	RASA2	SLC25A24	PIEZO2	KMT2B	RAB3GAP1	SEMA5A	PEX13	GRIP1	CHST14	TMEM138	IFT172	RAI1	UBE4B	ANKRD11	MESD	NIPBL	BBS7	GTF2IRD2	LIMK1	CDC45	USP9X	BBS9	ACTG2	SMARCD2	PPP2R3C	SLC18A3	ALG9	PIGU	TMEM270	RIPPLY2	TBR1	MAB21L1	OTUD5	MAP2K1	RAPSN	PIGS	DIS3L2	FAM149B1	RPS28	HOXD13	CTBP1	MRPS14	RBM8A	ARID2
HP_ABNORMALITY_OF_THE_INNER_EAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_INNER_EAR	SPRED1	ADGRV1	ERF	SOX10	SEMA3E	MT-TS2	HAAO	GJB6	SLC26A4	SIX5	FGFR2	OTX2	SIX1	SRCAP	GREB1L	NRAS	CHD7	POLR1C	MAP3K7	KCNJ10	POLR1D	CBL	TCOF1	TIMM8A	HARS1	SALL4	SETBP1	PEX6	RRAS2	FGF3	SOS2	ARSG	GJB2	MYO7A	CLRN1	PTEN	ESPN	HRAS	PTPN11	ORC1	SPRED2	COL4A6	POLR1B	RRAS	MRAS	EYA1	POU3F4	FOXI1	RIT1	FGFR3	RASA2	CIB2	RAF1	VHL	AKT1	LZTR1	WHRN	PCDH15	CDH23	CHN1	NDP	TP63	USH1C	TWIST1	CEP78	COCH	NF2	USH2A	CCND1	PRRX1	KRAS	ESRP1	DDX11	USH1G	PDZD7	SOS1	KARS1	MAFB
HP_TINNITUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TINNITUS	CYP11B1	SDHB	SMARCE1	CACNA1D	CACNA1A	TMC1	VHL	SLC39A14	TET2	TRAF7	SUFU	ATP1A2	PIK3CA	BAP1	TERT	TMEM127	SMARCB1	P2RX2	AKT1	MDH2	CAV1	DNMT3A	SDHAF2	COCH	RET	AIFM1	NF2	MFN2	CYP11B2	SDHD	DSPP	NF1	PRRT2	DIABLO	CLCNKB	SDHC	KCNQ4	FH	MIR96	KCNJ5	NAGA	SLC25A11	EPAS1	SMO	CCND1	MPL	PMP22	ATP2B2	DKK1	KIF1B	SLC44A4	MAX	SDHA	PDGFB	GRM1	JAK2	OSBPL2	DLST	CLCN2	SCN1A	SLC12A3
HP_OTOSCLEROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OTOSCLEROSIS	IDS	COL1A2	GDF6	PSMD12	COL1A1	BPTF
HP_ABNORMAL_EARLOBE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EARLOBE_MORPHOLOGY	ESCO2	HBA1	SEMA3E	NSD2	WDR4	EIF2S3	CDC42BPB	TBX1	HS2ST1	PIGB	PLAGL1	PCNT	CUL4B	UGDH	COL3A1	BCR	GPC4	HIVEP2	VPS53	NR2F1	CHD7	HIRA	KCTD1	FGD1	BMP4	NDUFB11	DOCK7	ATR	FGFR2	DPYD	SETBP1	SLC26A2	ELN	SMG9	NUP85	POR	RAC1	COX7B	GP1BB	MAN2C1	ARVCF	SMS	RDH11	SCARF2	HCCS	SLC35C1	FN1	ZEB2	PIGY	B4GALT7	RREB1	KAT6A	AHDC1	TMEM94	HMX1	PTPRF	MGAT2	GRIA3	ZNF407	CDC6	KMT2B	COMT	TWIST1	PIGQ	NOTCH2	SMOC1	CREBBP	POLR3A	GJA1	MAPRE2	TRAIP	SEC24C	KMT2C	VPS13B	TBL1XR1	TRIP12	PIK3CA	EP300	PHF6	ATRIP	FLI1	CRKL	PGAP3	PLXNA1	PLK4	EFTUD2	HBA2	GPC3	ABHD5	RBBP8	BRAF	HRAS	HYMAI	COL2A1	PRR12	CDH11	EBF3	SIN3A	JMJD1C	OTUD5	SMARCD1	MLXIPL	HNRNPH1	ZMYM2	TPRKB	EHMT1	FIG4	BICRA	MAPK1	DHCR24	SPEN	RBM10	CENPE	CENPJ	UFD1	IL1RAPL1	CEP152
HP_LOW_SET_POSTERIORLY_ROTATED_EARS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_SET_POSTERIORLY_ROTATED_EARS	BRD4	PIGN	BCOR	BBIP1	HBA1	SEMA3E	VPS37D	TMCO1	CTCF	HES7	SHOC2	CPLANE1	ALX1	RPGRIP1	OTX2	PEX3	NAA10	NSD1	ACAN	TXNDC15	CTNND2	CASZ1	B9D2	KIAA0753	TCTN2	BBS10	BBS12	FRAS1	CEP19	KRAS	CBL	TMEM107	FGFR2	SPEN	MVK	RRAS2	AHI1	METTL27	RAB18	PEX5	XYLT1	ASXL1	SKI	NSD2	TCTN3	HDAC8	PREPL	DHCR7	HSPG2	PEX10	GLI3	NPHP1	LZTFL1	BBS5	TGDS	PTPN11	LIG4	GTF2IRD1	SPRED1	BUB1B	EXT1	RTL1	NALCN	RRAS	MRAS	CAMKMT	CPLX1	UNC80	SMC1A	RIT1	TCTN1	MAP2K2	FREM2	MAPK1	SOD1	DSE	TBC1D20	CDC42	CEP290	PPP1CB	MRPS28	SLC3A1	BCL7B	TOPORS	MLXIPL	WDPCP	DHODH	OFD1	CFAP418	TRPS1	NCF1	TRIP13	LETM1	SUZ12	CANT1	BBS1	RAB3GAP2	NF1	ZC4H2	PRDM16	DLK1	LUZP1	FKBP6	HYLS1	CC2D2A	TMEM237	SDCCAG8	KIAA0586	TMEM216	CD96	MKS1	TBCE	RFC2	RECQL4	KAT6A	TBL2	CSPP1	HRAS	KIF7	PRRX1	COG1	INPP5E	PDPN	CEP41	RAF1	GTF2I	TUBB	PIGG	GLE1	KCNAB2	B9D1	PEX12	CLIP2	PEX11B	DHCR24	NELFA	MESP2	RBM10	TMEM231	ROR2	PEX16	STX1A	SRY	PDE6D	BBS2	MYH3	DNAJC30	RAD21	MEG3	NSUN2	BUB3	DLL3	RERE	PLAA	TFAP2A	PPM1B	CEP57	ERMARD	EZH2	GABRD	TRIM32	NRAS	GNAI3	RTTN	CHD7	ADNP	GALNT2	PRKCZ	BRAF	IFT74	PNPLA6	C2CD3	SPRED2	MKKS	SOS2	CSGALNACT1	TMEM67	ZNF423	SF3B4	PEX19	ALX3	ITCH	FGD1	CEP120	SMC3	GPC3	SLC26A2	HERC1	ARL6	BUD23	EED	PEX2	UMPS	MGAT2	MMP23B	RASA2	B3GALT6	BAZ1B	RMRP	AFF4	ELN	SMOC1	ERCC1	RAB3GAP1	SEMA5A	LZTR1	GPC4	PEX6	PEX13	GRIP1	IFT27	TMEM138	IFT172	FGFR1	FLI1	RAI1	RPGRIP1L	UBE4B	EIF4H	EDN1	NIPBL	B3GLCT	PEX26	BBS7	FRMD4A	GTF2IRD2	PEX14	LIMK1	GBA1	TTC8	USP9X	BBS9	MAPRE2	ACTG2	PLCB4	HBA2	NXN	SLC25A24	METTL5	LFNG	TMEM270	OCRL	SCAPER	ARID1B	BBS4	RIPPLY2	TBR1	PEX1	MAP2K1	FAM149B1	CHST14	ALG9	HOXD13	SOS1	FDFT1	TRPV4	CTBP1	BUB1	RBM8A	ARID2
HP_ABNORMALITY_OF_THE_MIDDLE_EAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MIDDLE_EAR	SDHB	MGP	VPS37D	RGR	IL11RA	IDH3A	PRPF4	CPLANE1	ARHGAP29	VHL	ELMOD3	ZNF699	RSPH3	ADAMTS3	FRAS1	DNMT3A	SETD2	GNPTAB	SLC7A14	CTNND1	PCARE	NSD2	SIX1	GAS8	TSR2	TCTN3	GP1BB	WDR26	SMARCA2	RAC2	ZEB2	ANKRD11	PDGFRA	SKI	MAX	NFKB1	RFXANK	UNC119	TAF1	NFIX	TMEM67	TP63	DNAH1	MAGT1	POLR3A	TOPORS	ALMS1	DHODH	ARL3	SMCHD1	LRBA	FGF9	TRPS1	PRTN3	FGFR3	RP2	DNAI1	NFKB2	PIK3R1	CFAP221	ERCC8	FGF10	PGM3	IL6ST	LONP1	FKBP6	ZMYND10	CRB1	FLII	LBR	AIFM1	SULT2B1	POU3F4	IGBP1	MCIDAS	BAP1	ATN1	GAS2L2	CHD7	TP73	CFAP300	MAP3K7	ACP5	RAI1	GDF5	USB1	SPEN	CD19	SDHA	SDR9C7	EYA1	LIPN	CFAP298	NR2E3	MAN2B1	JAK3	SRY	STAC3	IGKC	RAD21	CFAP52	PCGF2	LETM1	TNFSF11	MSX1	TULP1	SNRNP200	KDM6A	GABRD	RFX5	POLR1C	OFD1	COL1A2	SLC25A24	GALNT2	NBN	POLR1D	GSC	TCOF1	SEMA4A	KMT2D	TAPBP	PDE6A	EFTUD2	NOTCH3	NRL	ABCA12	ALX3	SLC25A11	MEG3	EPAS1	USH2A	FANCI	SGMS2	DNAAF1	KIF1B	TBX1	TLR8	IGHM	POLR1B	BAZ1B	ZNF341	BTK	BEST1	NCKAP1L	FGFR2	SEC24C	RPS23	IMPDH1	DVL1	RPGR	PRPF8	ELMO2	EIF4H	JAGN1	FLNA	EYA4	NXN	ANKH	AIRE	AHI1	CCDC103	KIZ	CCNO	SRCAP	MASP1	FBXW7	ADA	PDE6B	PEPD	IFT140	NKX2-1	TNFRSF11A	COL1A1	PLCG2	MAK	PRKCD	CCDC39	ASPRV1	ACVR1	AMER1	CIITA	POMGNT1	NCF4	CNOT3	BRD4	HYAL1	CERKL	NEK1	DNAJB13	COL2A1	GATA2	FAM161A	PRDM5	GRHL3	GUCA1B	EDNRA	KMT5B	ERCC6	OTOF	CTBP1	AMMECR1	METTL27	CDK5RAP2	TSHZ1	FGF3	DCLRE1C	CD79A	FGFRL1	LRP5	CD3E	COL11A2	CCDC47	H4C3	TNFRSF13B	G6PC3	IL17RA	PAX1	CPLX1	IL2RG	FOXJ1	GDF6	PRPF3	RBP3	NME8	TPP2	PDE6G	NME5	AP3B1	DNAH11	ODAD2	FAT4	BCL7B	IFT172	CREBBP	ABCA4	IDS	NCF1	FAM20C	ICOS	BCOR	RSPH4A	RP9	NEK10	CDH1	TBX22	HYDIN	SPEF2	RAC1	RECQL4	TMCO1	PORCN	PROM1	DNAAF2	PIGG	NECTIN1	MLXIPL	RNU4ATAC	TAOK1	MNS1	RAG1	SDHD	DNAAF5	GLRA2	CR2	CD3D	GJA1	HNRNPK	SH2B1	DNAL1	NOG	SIX5	CNGA1	BLNK	HIRA	WAS	PRKCZ	SETBP1	ADAT3	PRCD	POR	ARVCF	FOCAD	SDHC	ALX1	NCF2	SLC35C1	BBS1	DCHS1	BUD23	CD79B	ARL2BP	RSPH1	ALOXE3	NIPAL4	DOCK8	NOTCH2	DNAH9	SAG	TAP1	DNAAF11	NSD1	RNF168	DNAI2	UBE4B	HGSNAT	SMARCD2	TMEM216	ADA2	CD81	FMR1	RNF2	DNAAF3	COL11A1	JMJD1C	TCIRG1	CXCR4	CD3G	IGLL1	FAM149B1	DLX4	TNFSF12	SNRPB	AHR	ODAD1	SC5D	FSCN2	WIPF1	CHRNG	CTSK	ARSL	DEAF1	DLK1	RTL1	HAX1	CASZ1	KIAA0753	TCF3	DOCK2	PRPF31	STK36	DRC1	PIGL	IL7R	LRRC56	C4B	PLG	HSPG2	EYS	FH	CCDC65	CD4	TGDS	EXT1	ALOX12B	RREB1	CREB3L1	KAT6A	RAG2	BBS2	REEP6	CD247	BMP2	SMC1A	ODAD3	CYBB	PHIP	FREM2	DNAH5	SH3KBP1	CDCA7	DDR2	SPAG1	PCYT1A	IMPG1	PSMD12	CYBC1	CLRN1	RSPH9	PRDM16	HLA-DPB1	AGA	AGBL5	APC2	PRPH2	KIF7	BMP4	FANCF	RPE65	PDPN	FOXP1	TGM1	RUNX2	PRRX1	TTC8	CLIP2	SLC37A4	FCGR3A	DHDDS	DPF2	ROR2	LMNA	ENPP1	RET	IL6R	PDE6D	IDUA	SOX9	ERF	PRKAR1B	ZBTB20	SPATA7	SPTBN1	UBB	TFAP2A	GJB6	FBN1	CNOT1	IL21R	TMEM127	CARMIL2	GNB2	ARHGEF18	MDH2	NAA10	DIAPH3	CFI	GMNN	DNAAF6	MEOX1	GJB2	DDB1	SOST	ROM1	CLCN7	PTPN22	EDN1	CA4	MMP23B	ZNF513	RP1L1	RLBP1	BLM	COMT	BPTF	AFF4	ELN	FLNB	TTC12	KLHL7	STAT3	SNX10	B3GALT6	TLK2	OCRL	MERTK	GUSB	HLA-DPA1	CRX	MYH3	HLA-B	PTEN	P4HA2	TBX4	MPDU1	VARS1	LIG1	DLG1	DLST	PNP	EIF5A	RP1	ABCC6	CYP4F22	RELB	DNAAF4	IRF2BP2	RFXAP	PRPF6	CCBE1	TNRC6B	SCAPER	ODAD4	TUB	RDH12	HOXA2	HDAC8	IMPG2	SLITRK6	TAP2	CFAP45	HLA-DRB1	GTF2IRD1	GNS	CYBA	SDCCAG8	IRF6	MAPK1	CTLA4	RPL11	MYCN	KIAA1549	NEK2	DHCR7	PSMB8	TWIST1	IQSEC2	SYK	LUZP1	TNFRSF13C	TXNL4A	RFC2	TBL2	GATA1	NF1	RPS26	ZNF469	CDH11	GTF2I	NOTCH2NLC	CDHR1	KCNAB2	TFE3	SLC25A12	PIK3C2A	NELFA	ARL6	PRORP	STX1A	PIK3CG	LRAT	DNAJC30	IFT88	FKBP14	CDC42BPB	RERE	A2ML1	NIPBL	CNGB1	SMG9	RAB23	TELO2	H4C5	SALL4	CCDC40	AK2	CFAP418	ANAPC1	IL2RB	SMC3	HDAC4	SF3B2	ELANE	ZMPSTE24	KIF15	SF3B4	ZNF408	LRRC8A	OSTM1	IKBKB	GRIP1	KANSL1	B3GLCT	GTF2IRD2	LIMK1	RHO	MS4A1	IGHG2	IDH3B	DHX38	TMEM270	SIN3A	PGM1	RPS28	HEPHL1	CA2	UFD1	ARID2	SDHAF2	EP300
HP_ACUTE_OTITIS_MEDIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_OTITIS_MEDIA	RFXAP	RFXANK	CIITA	RFX5	JAK3
HP_ABNORMALITY_OF_THE_AUDITORY_CANAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_AUDITORY_CANAL	BRD4	RAD21	TBC1D24	TWIST2	LETM1	CPLX1	ADAM17	HOXA2	SIX5	EDNRA	SIX1	FKRP	MED12	IPO8	ORC1	FRAS1	ANAPC7	GSC	SALL4	GLI3	CTBP1	GMNN	NSD2	POMT2	CDT1	COL7A1	SLC12A2	TSHZ1	HDAC8	TSR2	ORC6	POR	EFTUD2	NOTCH3	FGFRL1	SF3B4	SMC3	SOST	KIF15	SF3B2	DCHS1	PAX1	TP63	EDN1	MRTFA	HMX1	B3GLCT	SMC1A	EGFR	ORC4	FREM2	RPL11	CDC6	DDR2	FGFR2	SMCHD1	GRIP1	CHRNG	EYA1	CHN1	RPL26	NIPBL	TCOF1	FKTN	CDC45	ERBB3	VPS37A	FAT4	TBX15	POMT1	RPS26	COL2A1	GNAI3	ATP6V1B2	LARGE1	RPS28	PORCN	SNRPB	MAFB	MAF
HP_ABNORMAL_COCHLEA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_COCHLEA_MORPHOLOGY	SIX1	KCNJ10	ARSG	MT-TS2	PCDH15	CLRN1	HAAO	CDH23	EYA1	ESPN	NDP	ORC1	SIX5	USH1C	SLC26A4	SRCAP	GREB1L	COL4A6	DDX11	USH1G	POU3F4	FOXI1	TIMM8A	HARS1	SETBP1	CEP78	PEX6	MYO7A	CIB2	COCH
HP_CUPPED_EAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUPPED_EAR	EIF5A	FRAS1	ZEB2	ASXL2	BCL11A	TBX2	DHODH	ZNF292	CTCF	KDM6A	SPTBN1	PIGN	PIEZO1	QRICH1	FGFR3	EDNRA	RIPK4	BCOR	DACT1	POU3F3	ODC1	PLXNA1	IPO8	PIGW	FGF10	KCTD1	PIGY	HUWE1	PGAP3	PIGV	ECE1	SCNM1	MBD5	PQBP1	PIGO	ZNF462	FOXL2	SIX1	IGBP1	TCF4	WLS	FBXW11	PRR12	CHD7	SMS	SIN3A	FGFR2	MED12	DHCR24	GNAI3	DDX11	EYA1	CHD4	BRWD3	SUPT16H	DNAJC21	FIG4	PGAP2	CHD5	TWIST1	PAX1	AFF4	PIGL
HP_STAPES_ANKYLOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STAPES_ANKYLOSIS	GJB6	ABCC6	ENPP1	POU3F4	RAD21	GJB2	IL11RA	NOG
HP_ABNORMAL_PERIAURICULAR_REGION_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PERIAURICULAR_REGION_MORPHOLOGY	BCOR	HNRNPK	FGFR1	SVBP	GATA6	TBX1	LETM1	SEMA3E	ODC1	CPLX1	TFAP2A	KIF7	HNRNPU	SIX5	GPC4	KDM6A	SNRPN	KMT2D	EDNRA	SIX1	NAA10	CTNND2	GNAI3	CHD7	PRMT7	POLR1C	MITF	NKX2-5	RAB23	H4C5	POLR1D	GSC	TCOF1	SALL4	FGFR2	CTBP1	NSD2	SALL1	SPECC1L	UBE3B	ARID1B	TASP1	EFTUD2	NKX2-6	WASHC5	ZFPM2	FGFRL1	FLNA	ALX3	ALX1	H4C3	FN1	H4C9	EIF2AK3	FLT4	SF3B2	POLR1B	PAX1	EYA1	XYLT2	B3GLCT	SF3B4	JAG1	KCNJ2	IRX5	HK1	CITED2	ANKRD11	CCDC22	SEMA5A	VPS13B	LRP1	CHN1	UBE2A	FLNB	EXT2	SYK	EDN1	GDF1	STAG2	MSL3	MED13L	ANK1	TXNL4A	PLCB4	KDR	GPC3	NPHP3	KAT6A	ZNF462	SMARCA2	WLS	COL2A1	BRF1	MED12	GATA4	LRP5	GJA5	PIGS	GATA5	MAFB	MID1	DACT1	WBP11	AUTS2	PPP1CB	TMEM260
HP_PREAURICULAR_SKIN_TAG	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREAURICULAR_SKIN_TAG	CCDC22	BCOR	FGFR1	SVBP	SEMA5A	LETM1	SEMA3E	ODC1	CPLX1	VPS13B	EYA1	CHN1	KIF7	HNRNPU	SIX5	GPC4	KDM6A	SNRPN	KMT2D	EDNRA	SIX1	NAA10	CTNND2	FLNB	EXT2	GNAI3	EDN1	CHD7	PRMT7	B3GLCT	TCOF1	POLR1C	STAG2	MSL3	H4C5	POLR1D	SALL4	EFTUD2	MED13L	CTBP1	TXNL4A	PLCB4	NSD2	GPC3	SALL1	ALX3	UBE3B	ARID1B	TASP1	SMARCA2	WLS	COL2A1	WASHC5	BRF1	FGFRL1	ALX1	H4C3	FN1	H4C9	LRP5	SF3B2	PIGS	POLR1B	SF3B4	MAFB	IRX5	DACT1	WBP11	ANKRD11	TMEM260
HP_SMALL_EARLOBE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_EARLOBE	COL2A1	POLR3A	SEC24C	GP1BB	ARVCF	EBF3	SMS	JMJD1C	SCARF2	SLC35C1	FN1	RREB1	HNRNPH1	KAT6A	AHDC1	KCTD1	HIRA	TBX1	ZMYM2	PTPRF	FIG4	RBM10	CDC6	COMT	UFD1	ABHD5
HP_ABSENT_EARLOBE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_EARLOBE	CREBBP	POLR3A	NUP85	ESCO2	PCNT	PLK4	HMX1	TRAIP	ATR	COL3A1	EP300	ZNF407	CENPE	KMT2B	CENPJ	ATRIP	B4GALT7	RBBP8	CEP152
HP_OTITIS_MEDIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OTITIS_MEDIA	MGP	WIPF1	VPS37D	IL11RA	DEAF1	ARHGAP29	DLK1	RTL1	DOCK8	TCF3	RSPH3	DOCK2	SETD2	STK36	GNPTAB	DRC1	IL7R	LRRC56	CFAP300	C4B	NSD2	GAS8	BTK	GP1BB	WDR26	CCDC65	CD4	SMARCA2	TGDS	RAC2	ZEB2	ALOX12B	RREB1	PDGFRA	KAT6A	RAG2	FGFR3	CD247	NFKB1	RFXANK	TAF1	ODAD3	UNC119	CYBB	PHIP	TP63	DNAH1	DNAH5	SH3KBP1	MAGT1	POLR3A	IGHM	SPAG1	MLXIPL	ALMS1	PCYT1A	LRBA	PRTN3	PSMD12	CYBC1	DNAI1	NFKB2	PIK3R1	CFAP221	RSPH9	TBX1	HLA-DPB1	IL6ST	FKBP6	CDH1	AGA	ZMYND10	FLII	LBR	WAS	SULT2B1	APC2	MCIDAS	BAP1	CD19	BMP4	ATN1	GAS2L2	FOXP1	TP73	ICOS	TGM1	ACP5	RAI1	RUNX2	DNAAF5	CLIP2	SLC37A4	FCGR3A	CD3D	USB1	NEK10	DPF2	SDR9C7	LIPN	ROR2	CFAP298	MAN2B1	IL6R	JAK3	SRY	IDUA	IGKC	CFAP52	PRKAR1B	TNFSF11	MSX1	SPTBN1	UBB	BLNK	IL21R	RFX5	CARMIL2	GNB2	OFD1	NBN	NAA10	CFI	KMT2D	TAPBP	DNAAF6	RAC1	NSD1	ABCA12	MEG3	DDB1	SLC35C1	DNAAF1	CLCN7	TLR8	BLM	COMT	BAZ1B	DNAI2	BPTF	ELN	ZNF341	ANKRD11	NCKAP1L	SEC24C	TTC12	KDM6A	STAT3	RPGR	SNX10	PGM3	DCLRE1C	EIF4H	JAGN1	FLNA	COL2A1	NXN	CCDC103	TLK2	OCRL	CCNO	SRCAP	GUSB	HLA-DPA1	ADA	PTEN	TBX4	PLCG2	PRKCD	CCDC39	ASPRV1	LIG1	CIITA	NCF4	DLG1	PNP	ADAT3	HYAL1	DNAJB13	CYP4F22	GATA2	GRHL3	RELB	DNAAF4	IRF2BP2	RFXAP	KMT5B	MAP3K7	TNRC6B	ODAD4	METTL27	FGF3	CD79A	NCF1	CD3E	TAP2	CFAP45	CCDC47	H4C3	GTF2IRD1	TNFRSF13B	G6PC3	GNS	CYBA	SDCCAG8	IL17RA	IRF6	CPLX1	IL2RG	FOXJ1	NME8	TPP2	NME5	AP3B1	DNAH11	MAPK1	ODAD2	ODAD1	CTLA4	RPL11	BCL7B	CREBBP	IDS	LETM1	DHCR7	PSMB8	IQSEC2	SYK	BCOR	RSPH4A	HYDIN	SPEF2	TNFRSF13C	RSPH1	RFC2	TBL2	TMCO1	FGFR2	GTF2I	DNAAF2	PIGG	NECTIN1	RNU4ATAC	CR2	TAOK1	TFE3	SLC25A12	MNS1	RAG1	GLRA2	CD79B	NELFA	STX1A	PIK3CG	DNAJC30	DNAL1	CDC42BPB	A2ML1	NIPBL	SMG9	HIRA	H4C5	CCDC40	AK2	DNAAF11	ANAPC1	ARVCF	FOCAD	IL2RB	DNAAF3	NCF2	ELANE	KIF15	BUD23	ALOXE3	LRRC8A	NIPAL4	IKBKB	DNAH9	TAP1	RNF168	KANSL1	GTF2IRD2	LIMK1	SMARCD2	ADA2	MS4A1	IGHG2	CD81	TMEM270	FMR1	RNF2	TNFSF12	COL11A1	JMJD1C	TCIRG1	CXCR4	PGM1	CD3G	IGLL1	DLX4	PTPN22	HEPHL1	CTBP1	UFD1	EP300
HP_CHRONIC_OTITIS_MEDIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_OTITIS_MEDIA	ZMYND10	DNAJC30	WIPF1	DNAJB13	CYP4F22	VPS37D	DNAL1	IL11RA	MSX1	GATA2	DEAF1	LRRC56	BLNK	GAS8	DNAAF4	TCF3	CARMIL2	GNB2	IRF2BP2	OFD1	RSPH3	HIRA	BTK	IRF6	SETD2	AK2	STK36	ODAD4	METTL27	TAPBP	CFAP300	TBX1	DNAAF6	NSD2	NSD1	GP1BB	ARVCF	CCDC65	ABCA12	DNAAF3	TAP2	CFAP45	TGDS	GTF2IRD1	ALOX12B	RREB1	KAT6A	DNAAF1	ODAD3	BUD23	CPLX1	NFKB1	CD79B	FOXJ1	CCDC40	NME8	TAF1	ALOXE3	LRRC8A	NIPAL4	COMT	ODAD2	CTLA4	TP63	BAZ1B	DNAI2	DOCK8	DNAH1	DNAH5	ELN	ANKRD11	DNAH9	DNAAF2	BCL7B	IGHM	SPAG1	MLXIPL	SEC24C	TTC12	NFKB2	TAP1	DNAAF11	NCF1	PRTN3	STAT3	RPGR	LETM1	DNAI1	PGM3	IQSEC2	DNAH11	EIF4H	ICOS	TNFRSF13C	PIK3R1	CFAP221	RSPH4A	NEK10	RSPH9	GTF2IRD2	LIMK1	HYDIN	HLA-DPB1	FKBP6	SPEF2	CFAP298	AGA	FLII	RSPH1	NXN	RFC2	MS4A1	WAS	SULT2B1	CD81	TBL2	APC2	CCDC103	TMEM270	OCRL	FGFR2	MCIDAS	CCNO	TNFSF12	GTF2I	GAS2L2	TP73	HLA-DPA1	TGM1	JMJD1C	PIGG	RAI1	RUNX2	NECTIN1	IGLL1	DNAAF5	SLC25A12	CLIP2	CR2	PTPN22	TBX4	CD19	PRKCD	DRC1	FMR1	NELFA	TNFRSF13B	CTBP1	CCDC39	ASPRV1	SDR9C7	ODAD1	LIPN	UFD1	ROR2	STX1A	CD79A
HP_THICKENED_HELICES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICKENED_HELICES	LZTR1	PBX1	BMP2	NRAS	PIGW	PIGY	H4C5	KRAS	CBL	PGAP3	FGFR2	TCF4	BRAF	PIGV	RRAS2	PIGO	SPOP	EDEM3	SOS2	SOS1	SMS	SIN3A	PTPN11	GDF11	SPRED2	RB1	AFF4	MAP2K1	DYRK1A	PIGS	DIS3L2	RRAS	MRAS	XYLT2	SUPT16H	TAF1	CDH2	RIT1	PGAP2	RASA2	RAF1	MAP2K2	ADAMTSL2	FBN1	PIGL	PPP1CB
HP_LOP_EAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOP_EAR	CHD7	IGBP1	CCNQ	COL5A1	SALL1	C12orf57
HP_PROMINENT_ANTIHELIX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_ANTIHELIX	RECQL4	GLI2	RBM10	AP4E1	FIG4	EVC2	BICRA	MGAT2	SLC16A2	TOR1A	PGAP1	WAC	EVC	NR2F1	KAT6A
HP_PRELINGUAL_SENSORINEURAL_HEARING_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRELINGUAL_SENSORINEURAL_HEARING_IMPAIRMENT	RIPOR2	HGF	ADCY1	ATP2B2	MARVELD2	ESPN	GIPC3	TIMM8A	IGF1	CDH23	GJB2	IARS2	GJB6
HP_MACROTIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACROTIA	BRD4	ADAT3	PCLO	MAN1B1	MGAT2	ODC1	VPS37D	ITGA3	CLCN3	MMACHC	SHOC2	HECW2	ZBTB20	RBMX	QRICH1	NSD1	ZNF699	KIFBP	RAB18	IPO8	IDH1	BMP4	PLCH1	KRAS	FGFR2	RHOBTB2	ERCC6	KDM6A	SSR4	METTL27	FAR1	AP3D1	PGAP1	DPYSL5	HDAC8	ALDH18A1	THOC2	AIP	NDE1	TBL1XR1	TAPT1	GTF2IRD1	TBC1D23	MECP2	NHS	MBTPS2	ANKRD11	PAK3	ERCC4	PMM2	DYRK1A	NARS1	KCNJ1	ALG3	PAX1	ERCC8	PQBP1	SUOX	SMC1A	TRPS1	TAF1	PHIP	GRIA3	JAG1	OTUD6B	MAP2K2	DSE	TBC1D20	SLC6A17	CPE	PPP1CB	YME1L1	BCL7B	SLC2A10	MLXIPL	STEEP1	TPRKB	ZNF711	GON7	NCF1	MASP1	CLIC2	NDP	PIGN	SUZ12	PSMB8	RAB3GAP2	PPP1R15B	TBX22	MGP	TBCD	PACS1	COLEC11	GLB1	FKBP6	HDAC4	EED	KATNB1	RFC2	WDR4	TBL2	KDM5C	GLI2	TRIO	OPHN1	NECTIN1	ZNF526	WDR73	GTF2I	KCNH1	AHSG	KIF1A	SMG8	NALCN	ATP6V1A	MED13L	EIF2S3	TOE1	GRIA4	CLIP2	MINPP1	FMR1	PIK3R1	ASNS	AEBP1	PHGDH	KANSL1	MID2	PTEN	CEP120	CIT	KDM6B	ZNHIT3	SLC9A6	DPF2	NUP107	STX1A	ZIC2	DNAJC30	RAD21	FIBP	SYNGAP1	SLC12A6	KDM4B	NUP133	ALKBH8	EZH2	DHX30	LAGE3	KMT2D	PTCH1	PTDSS1	DENND5A	GNB2	RAB3GAP1	BSCL2	NBN	COLEC10	TTI2	INSR	BRAF	ATP6V1B2	SALL1	OSGEP	CWC27	PRUNE1	CHRNA1	ITGB6	CBL	MBTPS1	MPLKIP	RPL10	RDH11	TOR1A	DDB1	SMC3	TAFAZZIN	ADAMTSL1	PIEZO2	HERC1	CENPE	BUD23	BRWD3	TNPO2	CTU2	NEXMIF	POLR1A	TRMT10A	BAZ1B	SNAP29	RMRP	ELN	PHF6	FTSJ1	AKT1	PYCR2	LSS	AGPAT2	TP53RK	SLC16A2	UBE2A	LMBRD2	MAN2B1	CASK	CHRNA7	EYA1	EIF4H	SHANK3	NIPBL	NAA10	IQSEC2	GTF2IRD2	LIMK1	SOX6	ERCC1	TENM3	FLNA	SET	HHAT	ALG9	METTL5	TMEM270	SMARCA2	SLC2A1	SIN3A	PRDX1	KCNN3	MAP2K1	CHST14	AP1S2	GPR101	SYNE1	FDFT1	TRAPPC9	CA2	ERCC2
HP_STENOSIS_OF_THE_EXTERNAL_AUDITORY_CANAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STENOSIS_OF_THE_EXTERNAL_AUDITORY_CANAL	COL7A1	SIX1	SLC12A2	HOXA2	POR	LETM1	CPLX1	FGFRL1	TWIST2	EYA1	CHN1	COL2A1	SIX5	EDNRA	SOST	MED12	RPL26	GNAI3	EDN1	HMX1	B3GLCT	FGFR2	RPS28	SALL4	ANAPC7	PORCN	CTBP1	GMNN	MAFB	NSD2	MAF	TP63	TBX15
HP_RECURRENT_OTITIS_MEDIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_OTITIS_MEDIA	ADAT3	HYAL1	MGP	DNAJB13	DNAH5	ARHGAP29	DLK1	GRHL3	RTL1	RELB	DOCK8	DNAAF4	RSPH3	KMT5B	MAP3K7	DOCK2	STK36	TNRC6B	GNPTAB	KDM6A	ODAD4	DRC1	IL7R	LRRC56	CFAP300	ELN	C4B	GAS8	CD79A	SETD2	BTK	WDR26	CCDC65	CD4	SMARCA2	CD3E	RAC2	H4C3	TNFRSF13B	ZEB2	GNS	PDGFRA	KAT6A	SDCCAG8	IL17RA	FGFR3	IRF6	FOXJ1	NME8	ODAD3	UNC119	TPP2	PHIP	NME5	AP3B1	DNAH11	MAPK1	ODAD2	ODAD1	RPL11	DNAH1	SH3KBP1	MAGT1	POLR3A	SPAG1	PCYT1A	LRBA	TP63	IDS	PSMD12	DHCR7	PSMB8	NFKB2	SYK	BCOR	CFAP221	RSPH4A	NEK10	HYDIN	IL6ST	TCF3	SPEF2	CFAP298	CDH1	ZMYND10	TNFRSF13C	RSPH1	RAC1	LBR	TMCO1	MCIDAS	BAP1	RSPH9	CD19	BMP4	ATN1	GAS2L2	FOXP1	DNAAF2	ICOS	ACP5	MLXIPL	RNU4ATAC	CR2	TAOK1	DNAAF5	TFE3	MNS1	MSX1	SLC37A4	GLRA2	FCGR3A	CD79B	USB1	DPF2	CD3D	IL6R	SRY	IDUA	IGKC	PIK3CG	CFAP52	PRKAR1B	CDC42BPB	UBB	A2ML1	BLNK	IL21R	SMG9	GNB2	OFD1	PRKCD	WAS	NAA10	DNAL1	H4C5	CCDC40	CFI	KMT2D	DNAAF11	JAK3	MEG3	ANAPC1	FOCAD	IL2RB	DNAAF3	DDB1	SLC35C1	DNAAF1	KIF15	TBX1	TLR8	IGHM	DNAI2	BPTF	ZNF341	IKBKB	DNAH9	NCKAP1L	TTC12	RPGR	NECTIN1	DNAI1	KANSL1	JAGN1	SMARCD2	FLNA	COL2A1	ADA2	IGHG2	CCDC103	FMR1	CCNO	SRCAP	RNF2	GUSB	COL11A1	DNAAF6	PGM1	CD3G	ADA	IGLL1	PTEN	DLX4	PLCG2	HEPHL1	CCDC39	LIG1	DLG1
HP_MIXED_HEARING_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MIXED_HEARING_IMPAIRMENT	SIX1	IGBP1	HOXA2	ANKH	FKBP14	ABCC6	GJB2	CDH11	ARSL	GJA1	CHD7	GJB6	COL11A2	DVL1	FBXW7	FAM20C	FGFR3	FGFR2	ELMOD3	MAN2B1	FLNB	FLNA	SGMS2	B3GALT6	FGF10	EYA1	GDF6	MAP3K7	RPS28	PORCN	AMMECR1	ENPP1	PAX1	AFF4	CDK5RAP2	POU3F4
HP_PROTRUDING_EAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROTRUDING_EAR	UBA2	NEK1	TP53RK	GABRA3	H19	BLM	VPS37D	IFT122	RPL10	NSD2	WNT7A	BMP1	FBXL4	COL3A1	NF1	EDNRA	ALDH18A1	FOXG1	BMP4	TTN	CRPPA	KDM6A	METTL27	FKRP	MBD5	MEGF8	CLCNKA	EDEM3	WNT4	TET3	LIG4	GTF2IRD1	EXT1	CCDC8	POMK	NKAP	AHDC1	MED12	SPOP	OBSL1	PAX1	TRPS1	SMPD4	TAF1	DAG1	DCAF17	GTF2H5	ZNF407	ZDHHC9	DSE	COL6A2	BIN1	CREBBP	POMT1	TRAIP	BCL7B	MLXIPL	RPS6KA3	TP63	NCF1	GTPBP2	NDP	FAM20C	GJA1	NALCN	POMT2	POU3F3	MPLKIP	TBX22	DLX4	KIF11	KNSTRN	SH3PXD2B	PTPN11	CLTC	PIK3CD	FKBP6	DYRK1A	MBTPS2	TXNL4A	PIEZO2	RFC2	TUBGCP2	PQBP1	LARGE1	HNRNPK	GTF2E2	CLCNKB	NHS	TBL2	KDM5C	MYMX	PUS7	COL2A1	NECTIN1	POMGNT1	PLK4	GTF2I	COL4A1	AP1S2	ATP6V1A	FLNA	TUBGCP6	DOCK6	POMGNT2	CLIP2	FIG4	BICRA	STX1A	HEATR3	SKI	RXYLT1	COL6A3	DNAJC30	ERCC3	NSUN2	ELN	IGF2	ARX	AARS1	SPTBN1	CAMTA1	FBN1	KMT2D	CUL7	NR2F1	MYH3	GJB3	KCTD1	EIF4A3	WDR19	TUBGCP4	SLC1A4	CAMK2G	FRMD4A	UPF3B	FBLN5	B3GALNT2	PRUNE1	NSRP1	PACS1	TASP1	GJB4	TARS1	TNNT3	SCARF2	INSR	FN1	RB1	CCDC32	LRP4	CARS1	TRMT1	BUD23	SPEG	SRCAP	ANTXR1	B3GLCT	FGFR1	LMNB1	INTS1	MAPK8IP3	BAZ1B	TNNI2	LGI4	FKTN	ANKRD11	TFAP2B	PYCR2	POLA1	ERCC2	PPP1R12A	NDST1	RNF113A	CLCF1	SON	GJA5	B4GAT1	CHST14	TPM2	KANSL1	CHRNA7	BSND	RYR1	EYA1	EIF4H	TTC26	NAA10	PYCR1	KDSR	OTUD6B	GTF2IRD2	HUWE1	LIMK1	DHX37	GJA8	ZNF462	TMEM270	OCRL	KCNK9	SIN3A	MAB21L1	APC	TBX4	ADNP	FMR1	DPP6	FIBP	SHANK3	COL6A1
HP_ATRESIA_OF_THE_EXTERNAL_AUDITORY_CANAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATRESIA_OF_THE_EXTERNAL_AUDITORY_CANAL	BRD4	CDC6	RAD21	TBC1D24	DDR2	FRAS1	TWIST2	FGFR2	SMCHD1	GRIP1	EYA1	HOXA2	SIX5	SIX1	FKRP	RPL26	NIPBL	TCOF1	FKTN	CDC45	ORC1	ERBB3	GSC	GLI3	EFTUD2	FAT4	POMT2	CDT1	TSHZ1	HDAC8	TSR2	ORC6	POMT1	RPS26	NOTCH3	SF3B4	SMC3	KIF15	SF3B2	DCHS1	ATP6V1B2	LARGE1	PAX1	TP63	SMC1A	GMNN	SNRPB	ORC4	FREM2	RPL11
HP_BULBOUS_NOSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BULBOUS_NOSE	EIF5A	MAN1B1	KAT5	ODC1	CLCN3	CUL4B	ACTL6B	HECW2	RBMX	AFF3	QRICH1	SOX5	MPDZ	KCNJ5	MAP3K7	FOXG1	PIGY	RNU4ATAC	CSF1R	ASXL3	EXTL3	FBXL3	PIGV	WAC	ECE1	MBD5	SPOP	TBX1	KMT2B	FBN1	EDEM3	AP4B1	COL18A1	GP1BB	TWIST2	SLC25A46	COL11A2	CCDC47	WDR62	MMP2	TBC1D23	ABCA5	CPT2	EXT1	TMEM231	CAMTA1	RREB1	CCDC8	DYRK1A	OBSL1	ALG3	CEP57	PQBP1	SMPD4	TRPS1	DGCR6	TAF1	SRD5A3	DDX3X	KDM5B	JAG1	KCNJ2	ECEL1	MED12L	HK1	CDC42	MTX2	RUSC2	FBXO31	YY1	EXT2	SLX4	RERE	DLX4	STAG2	PACS1	TCF20	CPLX1	KATNB1	TUBGCP2	PYCR2	EFEMP2	KAT6B	TRIO	ATN1	SNX14	SMG8	ATP6V1A	SMARCD1	MED13L	POU4F1	DOCK6	LTBP3	ATP6V1B2	ZMYM2	ALDH1A2	KANSL1	BICRA	CEP55	SPEN	TRRAP	SCYL2	CIT	SATB2	MRAS	SC5D	TBC1D24	ESS2	ZNF292	DGCR2	KDM4B	SPTBN1	FREM1	SPRTN	STXBP1	CUL7	SNIP1	MED12	HIRA	AP4E1	H4C5	DOCK7	LMX1B	CLPB	ALDH6A1	C2CD3	KCNH1	MYO18B	AP4M1	POR	ARVCF	DGCR8	SMS	CDH11	AP4S1	SLC35C1	SETD5	KIF15	INTS1	PGAP2	CDK13	COMT	KIFBP	SEC24C	GJA5	SMC3	SHANK3	MESD	PIGW	PYCR1	DYNC1I2	HUWE1	PGAP3	SIM1	TBCK	GJA8	PIGO	UNC80	SMARCA2	USP9X	SRCAP	CLIC2	JMJD1C	BRAF	KCNN3	TONSL	COL1A2	CDK19	NHEJ1	TBX4	CCNQ	UFD1	SMARCAL1	PIGL	FMR1
HP_ABNORMALITY_OF_THE_CHOANAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CHOANAE	BRD4	RAD21	ERF	ITCH	SEMA3E	FANCB	TGIF1	FGFR1	ADGRG1	SETBP1	RERE	PTH1R	SRPX2	UBE2T	BCR	FGFR2	NIPBL	PTDSS1	LMNA	SUFU	CHD7	PERCC1	POLR1C	HIRA	CDC45	NBN	POLR1D	TCOF1	GLI3	SHH	TXNL4A	SOST	CDH1	FOXE1	SALL1	ZIC2	TBX1	WNT3	OFD1	SLC12A2	HDAC8	GLI2	BRCA1	DHCR7	ARID1B	POR	EFTUD2	TCTN3	GP1BB	ARVCF	DISP1	SCARF2	SMC3	MBTPS2	FANCF	WAC	ZMPSTE24	PI4KA	MED12	RREB1	SIX3	NODAL	POLR1B	NFIX	TP63	FGFR3	GLIS3	SMC1A	EPCAM	IGBP1	POLR1A	GRIN2B	PALB2	COMT	RPL11	TWIST1	FAT4	PAICS	FRAS1	BRCA2	SEC24C	SMCHD1	PTPN14	SPINT2	FANCM	TDGF1	FAM20C	CRKL	DCHS1	SLX4	FOXH1	FGF10	ERCC4	FANCL	MSL3	USP9X	SALL4	RAD51C	ASXL3	CDON	FANCD2	RECQL4	RPS26	MAD2L2	FANCA	JMJD1C	FANCI	GAS1	FANCE	IRF6	FANCG	PTCH1	BRIP1	SLC37A4	ZNF335	MAPK1	CEP55	DLL1	RAD51	RFWD3	FGF8	ANTXR1	XRCC2	UFD1	FANCC	WBP11	DHODH
HP_NARROW_NASAL_RIDGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_NASAL_RIDGE	ZMPSTE24	ADAT3	ALDH18A1	SMARCA2	PYCR1	POLR3A	MTX2	CAV1	WDR73	CLCN3	COL3A1	CEP55	FOCAD	LMNA	NRAS	HRAS	FBN1	HNRNPH1
HP_ABNORMAL_NASAL_SEPTUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NASAL_SEPTUM_MORPHOLOGY	NECTIN1	MYMX	CREBBP	ARSL	NF1	TGIF1	PAH	MSX1	ATP6V1B2	EP300	FLNB	TFAP2A	TP63	NONO	RPS6KA3	STING1	IRF6	SIX3	EXOSC5	PTCH1	UBA1	NOG
HP_EPISTAXIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISTAXIS	PML	ITGB3	RASA1	F13A1	CYP11B1	IRF2BP2	ITGA2B	WIPF1	HMOX1	CDC42BPB	FGB	GP1BB	FYB1	HPS3	FIP1L1	TET2	FGG	STXBP1	GP9	F5	NABP1	LYST	F11	ZBTB16	GP1BA	IFNG	SLFN14	GATA1	WAS	F13B	F8	NBEAL2	LMX1B	F7	MYH9	CYP11B2	VWF	HPS6	ACVRL1	STAT5B	CEBPE	SMAD4	KCNJ5	FCGR2C	BLOC1S5	NPM1	GDF2	HPS4	STAT3	HLA-DRB1	MPL	MCFD2	GP6	PTPN22	TERC	FGA	F10	PRF1	HPS5	JAK2	STIM1	PRKAR1A	CTLA4	GBA1	P2RY12	GIMAP5	F2	CACNA1D	PRTN3	RASGRP2	GGCX	SRC	ACTN1	SBDS	HPS1	ATP8B1	HLA-DPB1	SERPINE1	FERMT3	PRKACG	GFI1B	RUNX1	LMAN1	BLOC1S3	MYD88	TERT	SLC37A4	HLA-DPA1	ENG	RARA	HLA-B	TBXA2R	ETV6	EPOR	NUMA1	P4HA2	DTNBP1	EPHB4	BCOR	TBL1XR1	CLCN2	PLAU
HP_ABNORMAL_NASAL_BRIDGE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NASAL_BRIDGE_MORPHOLOGY	LRP2	MGP	MN1	ARSB	SEMA3E	VPS37D	POU1F1	YARS1	APC2	RGR	IL11RA	CUL4B	SPATA5	IDH3A	HS2ST1	RARB	PRPF4	CPLANE1	HECW2	PDHA1	ALX1	GPC4	LBR	KYNU	LTBP4	GNE	ZNF699	ETFA	PURA	PIGY	KCNJ6	FAT4	PITX2	SMARCB1	ASXL3	ADAMTS3	NDUFB11	FRAS1	SALL4	GNPTAB	PRKAR1A	KLHL7	PGAP1	FZD2	SLC7A14	DPYSL5	SPATA5L1	MEGF8	PEX14	SPOP	PCARE	TRPV4	NSD2	EDEM3	MITF	PEX10	GP1BB	ADA2	MED13	DISP1	WDR26	LMNA	KCNN3	GDF5	TAPT1	RPS28	ZEB2	ANKRD11	WAC	B4GALT7	TMEM237	CAMKMT	RBM10	UNC80	CSPP1	HNRNPR	TAF1	DICER1	ARID1B	VPS33A	HOXB1	ZBTB18	TUBA1A	AP2M1	RPS29	CREBBP	NRCAM	STAG1	SLC3A1	TPO	TOPORS	TNNI2	SP7	ERCC5	LMNB1	ARL3	DVL1	HSD17B4	RPL35A	RPS6KA3	TRPS1	CHN1	PIGN	DPH1	FGFR3	WARS2	RP2	KAT6B	TMEM218	COL1A1	BBS7	RIN2	KIF11	STAG2	PIGQ	SCUBE3	MACF1	TCF20	GNAS	BPNT2	LONP1	PTH1R	FKBP6	CC2D2A	CRB1	FLII	NMNAT1	KIF7	RUNX2	KMT2A	DPH5	KDM5C	IGBP1	ARID1A	GLI2	MKS1	COG1	LHX3	PQBP1	TRIO	ZNF526	BRPF1	CHD8	SMARCAL1	EBF3	RAI1	COL11A2	ATP6V1A	BCAS3	SUFU	LTBP3	RECQL4	CLP1	GNRHR	MINPP1	PIK3R1	SUPT16H	EBP	CDH2	COLEC11	ZNF335	USB1	DHCR24	SPEN	TRRAP	SCYL2	TMEM107	MAFB	SIK1	NR2E3	FBN1	SATB2	MAN2B1	FGFR1	RAD21	LETM1	MYCN	DLL3	HSPG2	SNORD115-1	PIGB	PPM1B	TULP1	MAF	DHX30	PAK2	SNRNP200	SPRTN	GABRD	CHD2	ZBTB24	ADNP	GALNT2	KCTD1	RPL26	IGF1R	GRM7	HDAC4	ABCC9	POLR1D	TCOF1	SEMA4A	INTU	KMT2D	FOXG1	PDE6A	FREM1	RNF13	TCF4	UBE3B	CBL	ACTB	ZNF423	NRL	WNT5A	KIAA0586	CDH11	RB1	GPC3	CDKL5	USH2A	SIX3	MTHFR	ADAMTSL1	PAH	SRCAP	ANTXR1	TBCE	UMPS	PRMT7	TNPO2	WDR37	CTU2	VPS13B	MAPK8IP3	ASXL1	BAZ1B	RPS15A	CCDC22	DVL3	ACAN	RIPK4	BEST1	SLC35A2	PEX5	DOK7	ZMIZ1	SEC24C	RPS23	ALX4	PEX6	NOTCH2	ATAD3A	EP300	RPGRIP1L	IMPDH1	PIEZO2	CASK	FLI1	PIGG	ETFDH	PRPF8	PEX16	SON	PGAP3	EIF4H	SHANK3	H4C11	NDE1	CKAP2L	RBL2	GBA1	TTC8	SMC1A	TCTN2	SOX6	TMEM53	DYRK1A	FGF8	RHOA	NXN	ANKH	GJA8	PIGO	PAM16	SOX11	AHI1	BRAF	TCF3	KIZ	KCNH1	SCAPER	IFT74	CEP290	PEX1	AFF2	TRIP11	SOX9	DUOX2	DYNC2I1	PDE6B	ACSL4	PEPD	SOX10	IFT140	SYNE1	HBB	SYNGAP1	FDFT1	MAK	SIM1	TRAPPC9	RAF1	PIK3CD	AMER1	POMGNT1	P4HTM	BRD4	HYAL1	CERKL	SH2B1	ERCC6	NEK1	HBA1	KATNIP	MGAT2	KAT5	WDR4	COL2A1	FAM161A	POLRMT	GPRASP2	COL9A3	TSHB	COL3A1	GUCA1B	MKRN3	EDNRA	CHD7	KCNJ5	KIFBP	POLR1C	MYMK	KMT5B	MAP3K7	MEG3	RYR1	IFT52	XRCC4	BCOR	COL27A1	FGFR2	CTBP1	SOST	AMMECR1	GATA1	METTL27	INPP5E	HYOU1	ATPAF2	XYLT1	TBX1	ARMC9	TCTN3	AP4B1	INPPL1	PHF21A	FGFRL1	TONSL	SMOC1	COL1A2	HCCS	EDA	SLC25A22	G6PC3	PAK3	PIK3CA	AHDC1	PAX1	ARX	IFT80	SMPD4	TP63	GLIS3	GNAO1	CPLX1	PRPF3	RBP3	FANCL	DDX3X	KRAS	PMM2	PDE6G	SNX14	JAG1	AP3B1	OTUD6B	WNT7A	MAP2K2	SIX2	EXOSC5	TBC1D20	SNAI2	FH	FLNA	PAICS	SOX18	BCL7B	IFT172	IFT81	SEC23A	ABCA4	PPP1R21	PEX19	CFAP418	NCF1	FAM20C	MYH3	PEX7	BBS1	NUP88	CRKL	FBXO31	PTCH2	RAB3GAP2	DUSP6	NAGA	RP9	SLC6A9	COL11A1	SLC45A1	PIGV	SIN3A	OFD1	SDCCAG8	ACY1	SMAD4	RAC1	MED27	KDM1A	TMCO1	ERF	UBE2A	PEX13	PORCN	HRAS	TGFB3	NECTIN1	PROM1	HDAC8	SOS1	SHH	TPM2	GPC6	BMPER	MLXIPL	RNU4ATAC	TAOK1	TUBGCP6	DOCK6	PTCH1	TOE1	BPTF	MARS2	HERC2	UGP2	SMARCC2	PEX11B	BICRA	MAPK1	CHD5	RPL18	AGL	STRA6	ARSK	TMEM67	TMEM231	RPL31	WDR19	ROR2	FAR1	GJA1	HNRNPK	TBC1D24	NSUN2	TBX2	GATA4	SCN1B	ATRX	TBX6	PCNT	B4GALT1	CNGA1	SNRPN	TRIM32	STRADA	BMPR1A	TWIST2	HIRA	AP4E1	KIT	GLI3	TFAP2B	EDAR	PRKCZ	CACNA1C	PEX12	SLC1A4	TOGARAM1	SETD5	TAF6	ALDH6A1	SLC26A2	SOX4	ADAT3	SPRY4	B9D2	NOG	NSRP1	MKKS	FOXC1	BRCA1	PRCD	DLK1	H3-3A	SKIC2	POR	CEP152	WASHC5	INSR	ARVCF	FOCAD	PUF60	PTEN	ALG9	ALG2	FGD1	SLC35C1	KIF14	KCNJ8	DCHS1	TRMT1	BUD23	NFIX	PITX1	SMO	ARL2BP	PGAP2	CEP104	SNAP29	NEXMIF	SLC25A24	NUP188	PEX2	RELN	SHOX	DPM1	MEF2C	NPHP1	PARS2	RPS20	MIA3	TGIF1	CHD3	SAG	SH3PXD2B	SEMA5A	RAB3GAP1	FLNB	KATNB1	GJA5	HESX1	TMEM138	NSD1	TDGF1	UBE4B	EYA1	CCND2	TTC26	PEX26	PIGW	HGSNAT	LEMD3	PIGA	KCNMA1	RPS17	ERCC1	ACTG2	DHPS	ANK1	IDS	TMEM216	TBCK	DPF2	NF1	WDR35	KISS1R	PIGU	ALX3	MDH1	DDR2	USP9X	RNF2	AIFM1	LARP7	NEUROD2	IDUA	JMJD1C	RIPPLY2	B3GAT3	GAD1	ORC6	PUM1	MAP2K1	RAPSN	EFNB1	FAM149B1	TRIM37	ZSWIM6	RPGR	SMS	NONO	AHR	NPR2	SC5D	EXTL3	PCLO	BBIP1	FSCN2	IARS2	IFT122	CUL7	HES7	NSDHL	KIAA0753	DEAF1	RTL1	CASZ1	ADGRG6	IPO8	CANT1	FBXO28	CEP19	PRPF31	SMARCE1	DPYD	RPS24	FBXL3	PIGL	NSMCE3	COL18A1	MAGEL2	SPECC1L	DHCR7	RPS27	EYS	ATP6V0A2	RSPRY1	CBY1	BBS5	SMARCA4	LIG4	MMP2	EXT1	RREB1	NALCN	KAT6A	MED12	ALG3	SCN2A	BBS2	REEP6	DNMT3B	EDARADD	KDM5B	CD96	LAMA5	DIS3L2	SCN1A	MUSK	FREM2	ADAMTS10	MED12L	ARSL	HS6ST1	CDCA7	ZDHHC9	DYNC2H1	MTX2	PLCB3	NDP	IMPG1	IYD	PSMD12	RALA	EDN3	CLRN1	AGO2	HYLS1	PRDM16	KNSTRN	SRD5A3	AGA	AGBL5	DMXL2	MAN1B1	WDR11	DUOXA2	PAX3	POLR1A	FOXL2	PRPH2	NEU1	POLR3A	RPE65	PDPN	ETFB	CEP41	CDC42	PRKG2	SMARCD1	MED13L	FRMPD4	GATAD2B	PDE4D	ATP6V1B2	CLIP2	PRKDC	TUBB	KANSL1	MESP2	DHDDS	MID1	PDE6D	ZIC2	SVBP	PRKAR1B	CCNK	KDM4B	SPATA7	TMEM147	CSGALNACT1	SPTBN1	TFAP2A	EXT2	NUDT2	CNOT1	PWRN1	SKIC3	RTTN	GNB2	GPX4	ARHGEF18	ADAMTS2	TG	PWAR1	TUBGCP4	GMNN	POGZ	UPF3B	SPRED2	ALG12	TASP1	EXOC2	CDK10	TNNT3	SCARF2	CENPF	DDB1	CEP120	AP4S1	NSMF	LTBP1	ROM1	AKT3	MYT1L	UQCC2	RPS19	HELLS	NFIB	CA4	PIGT	CDK13	MECP2	MMP23B	ZNF513	RP1L1	RLBP1	TCTN1	COMT	PDGFRB	RSRC1	RMRP	ELN	SF3B4	FTSJ1	GNRH1	AKT1	POLA1	RPS7	FUT8	PBX1	IFT27	IFT57	STAT3	PROK2	FOXH1	B3GALT6	NAA10	HUWE1	NFASC	SET	COG4	HBA2	EXOSC1	LFNG	RLIM	TLK2	SMARCA2	EZH2	PIGP	MERTK	FGF17	BBS4	CRX	AUTS2	KCNE5	CILK1	ACOX1	TBX4	PTPN11	VARS1	CCNQ	VDR	POLE	RP1	RPL10	SOX5	COG5	HIVEP2	PEX3	CTNND2	MYOD1	RPS26	PRPF6	CCBE1	BBS10	BBS12	RHOBTB2	KDM6A	ECE1	TUB	RAB18	SMG9	PIBF1	RDH12	SKI	STX16	PREPL	IMPG2	MTOR	MYRF	COX7B	LZTFL1	PSMC1	SUMF1	SLC39A13	GTF2IRD1	H4C9	TENT5A	NHS	GNS	KREMEN1	NODAL	CEP57	TMEM94	KISS1	RPL15	PRPS1	RPL11	ACTG1	PLOD1	LRPPRC	EEF1A2	KIAA1549	PSAT1	GLUL	RARS2	MEIS2	MAPRE2	WDPCP	TMEM70	RPL27	NOTCH3	TRIM8	TRIP12	GTPBP2	NEK2	TWIST1	IQSEC2	BRF1	LUZP1	SCO2	GLB1	TXNL4A	EED	RFC2	COG8	RPS10	EFEMP2	TBL2	PACS2	PUS7	ARL13B	NEPRO	TACR3	BLTP1	PLK4	TAC3	GTF2I	DYNC2I2	GHR	CDHR1	KCNAB2	PROP1	TFE3	RALGAPA1	PIK3C2A	PRKD1	ZMYM2	PIK3R2	NELFA	DLL1	KDM6B	ARL6	EPG5	STX1A	CSNK2A1	MRAS	RPL5	SLC2A1	KCNA1	LRAT	DNAJC30	CDKN1C	KPTN	NPAP1	ESCO2	IFT88	CTSD	SLC12A6	ZNF292	SETBP1	CDC42BPB	MDM2	RERE	GNPAT	ASPH	BCR	NIPBL	CNGB1	LHX4	ERCC2	NR2F1	KAT8	BMPR1B	PCDHGC4	RAB23	H4C5	HMGA2	DOCK7	SNORD116-1	EDNRB	RAC3	ATIC	FGF3	MADD	TSR2	NRAS	ADAMTSL2	CHST3	TOR1A	METTL23	SMC3	EIF2AK3	PRIM1	NBN	ASH1L	HERC1	POLR1B	IL6ST	INTS1	SLC5A5	SHROOM4	ZNF408	IRX5	LINS1	PKDCC	ARID2	STT3A	DYNC2LI1	GRIP1	OBSL1	KCNJ2	VANGL2	BMP2	B3GLCT	PLXNA1	OPHN1	GTF2IRD2	LIMK1	BBS9	RHO	CRIPT	SLC18A3	SCNM1	CDON	DCAF17	GRIN1	IDH3B	DHX38	CRLF1	TMEM270	KCNK9	WLS	CLIC2	RPL35	GAS1	COX4I1	ZMPSTE24	SEPTIN9	PROKR2	SLC6A1	MRPS14	B9D1	UFD1	BUB1B	PNKP	TALDO1
HP_PROMINENT_NASAL_BRIDGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_NASAL_BRIDGE	BBIP1	SH2B1	ERCC6	KATNIP	MGAT2	KAT6B	NSDHL	CPLANE1	HIVEP2	ZNF699	KIAA0753	IPO8	PIGY	MITF	ASXL3	BBS10	BBS12	CEP19	XRCC4	BCOR	PIGV	ECE1	AHI1	INPP5E	ATPAF2	STAG1	PIBF1	SPOP	TBX1	ARMC9	TCTN3	PHF21A	TCF4	NPHP1	LZTFL1	GP1BB	GPC4	CBY1	MED13	BBS5	NDE1	H4C9	NHS	ANKRD11	PAK3	RREB1	NALCN	KAT6A	TMEM237	MED12	ARX	UNC80	CSPP1	IGBP1	FGFR3	KDM5B	PMM2	OTUD6B	HSPG2	EXOSC5	MED12L	CEP290	SOX18	RARS2	ZDHHC9	MEIS2	TOPORS	WDPCP	LMNB1	SEC23A	VPS13B	OFD1	SPECC1L	CFAP418	NSUN2	BBS1	CRKL	TWIST1	EDN3	TMEM67	HYLS1	TMEM218	SCUBE3	SIN3A	CC2D2A	DYRK1A	SDCCAG8	SMAD4	TXNL4A	RAC1	MKS1	PCNT	POLR1A	RECQL4	KDM5C	TGFB3	KIF7	ARL13B	ZNF526	SATB2	CEP41	HDAC8	EBF3	SUFU	PRKD1	EBP	COLEC11	ZNF335	KANSL1	BICRA	MAPK1	CHD5	RELN	SPEN	TRRAP	TMEM231	RAB3GAP2	PDE6D	PAX3	BBS2	GATA4	CDC42BPB	EXT2	ASPH	BCR	SPRTN	TRIM32	TMEM216	NR2F1	KAT8	RTTN	HIRA	GALNT2	PCDHGC4	HMGA2	DOCK7	FGFR2	TOGARAM1	EDNRB	IFT74	UPF3B	TAF6	AFF2	ATIC	SPRED2	ALG12	B9D2	MKKS	BRCA1	TBC1D20	CEP152	INSR	ZNF423	ARVCF	SMS	CENPF	CEP120	RB1	NBN	PDGFRB	ASH1L	HERC1	ARL6	TNPO2	WDR37	PGAP2	CDK13	SF3B4	MECP2	CEP104	NEXMIF	MAPK8IP3	TCTN1	COMT	SNAP29	ERCC1	FBN1	KIFBP	MIA3	ARL3	ZMIZ1	SEC24C	GJA5	IFT27	TMEM138	IFT57	RPGRIP1L	IFT172	SMC3	PIGW	CKAP2L	BBS7	LEMD3	TTC8	SMC1A	PGAP3	TCTN2	CASK	BBS9	ACTG2	NFASC	DHPS	TBCK	GJA8	DCAF17	PIGO	TP63	RLIM	TLK2	SCAPER	SRCAP	BBS4	CLIC2	JMJD1C	NONO	COX4I1	SOX10	ORC6	ALX4	TRIO	FAM149B1	KIAA0586	B9D1	UFD1	PIGL
HP_ABNORMAL_MORPHOLOGY_OF_THE_NASAL_ALAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_THE_NASAL_ALAE	MGP	MN1	RGR	CTCF	SPATA5	IDH3A	PRPF4	HECW2	PDHA1	ALX1	ZBTB20	GPC4	ZNF699	PURA	KCNJ6	SMARCB1	ASXL3	FRAS1	SALL4	EHMT1	GNPTAB	PRKAR1A	FZD2	SLC7A14	BRCC3	MEGF8	PCARE	EDEM3	VPS51	MITF	PEX10	DISP1	WDR26	SLC25A46	TAPT1	ANKRD11	CCDC8	TMEM237	SPOP	OBSL1	SKI	RBM10	UNC80	PTPRF	CSPP1	TAF1	NFIX	ARID1B	HOXB1	AP2M1	HK1	POLR3A	ARL3	DVL1	RPS6KA3	TRPS1	CHN1	PIGN	RP2	TMEM218	KIF11	PIGQ	LONP1	PTH1R	CC2D2A	CRB1	FLII	KATNB1	ARID1A	MKS1	BAP1	EBF3	KIF1A	RAI1	COL11A2	POU4F1	SUFU	LTBP3	CLP1	PIK3R1	USB1	SPEN	TRRAP	MAFB	SIK1	NR2E3	SATB2	PPP1CB	FTO	RAD21	MYCN	EXOSC2	GPAA1	DLL3	CAMTA1	NGLY1	TULP1	SNRNP200	CHD2	ZBTB24	ADNP	KCTD1	RIPK4	GRM7	ABCC9	HNRNPK	DDB2	PAFAH1B1	SEMA4A	CTNNB1	FRMD4A	PDE6A	ERCC2	TCF4	UBE3B	HIC1	EFTUD2	FGFR3	ZNF423	NRL	WNT5A	CDH11	GPC3	CDKL5	USH2A	SIX3	PAH	PRMT7	MAPK8IP3	TRMT10A	VAC14	ASXL1	DVL3	BEST1	IFT122	PEX5	PEX6	NOTCH2	ATAD3A	RPGRIP1L	IMPDH1	MICU1	KCNJ11	FLI1	PRPF8	CKAP2L	GBA1	SMC1A	TCTN2	TMEM53	RHOA	NXN	GJA8	PAM16	SOX11	AHI1	ZNF462	KIZ	FAM149B1	SRCAP	NFIA	PEX1	TRIP11	TOPORS	HRAS	PDE6B	TRIO	ACSL4	SOX10	IFT140	SYNGAP1	MAK	ERCC5	NRAS	POMGNT1	PHIP	PLEC	CNOT3	VPS35L	BRD4	PPM1D	CERKL	KATNIP	CPSF3	COL2A1	FAM161A	POLRMT	SHOC2	GUCA1B	MYMK	MAP3K7	MEG3	FGFR2	INPP5E	XYLT1	ARMC9	FBN1	FGF3	INPPL1	PHF21A	TONSL	SMOC1	EDA	SLC25A22	ABCA5	PAK3	PAX1	GNAO1	PRPF3	RBP3	DGCR6	DDX3X	KRAS	PMM2	PDE6G	MAP2K2	TBC1D20	LMBR1	FH	CHMP1A	PAICS	IFT172	ABCA4	PPP1R21	DOCK3	MYH3	CRKL	FBXO31	RAB3GAP2	PPP1R15B	RP9	SLC6A9	COL11A1	RERE	ARX	OFD1	RAC1	WDR19	MED27	KDM1A	RECQL4	CPLANE1	TMCO1	ERF	SMARCC2	PROM1	HDAC8	SHH	SNX14	GPC6	ALG13	MLXIPL	RNU4ATAC	TUBGCP6	ABCC8	PTCH1	MARS2	PEX11B	BICRA	MAPK1	CEP55	TMEM67	FGF8	TMEM231	ROR2	SLC26A2	TBC1D24	ADSL	DGCR2	SCN1B	ATRX	NOG	TBX6	PCNT	NOVA2	CNGA1	SNRPN	FAM20C	GLI3	BRAF	TOGARAM1	SETD5	TAF6	ALDH6A1	PPP2R1A	SOX4	MYO18B	B9D2	NSRP1	BRCA1	PRCD	DLK1	H3-3A	DNMT3A	INSR	PUF60	PTEN	RDH11	FGD1	COG1	KIF14	KCNJ8	BBS1	CRLF1	ARL2BP	CERT1	CEP104	NEXMIF	MEF2C	NPHP1	PARS2	SAG	SH3PXD2B	RAB3GAP1	CWC27	FLNB	GJA5	TMEM138	LIFR	UBE2A	LMBRD2	NSD1	TDGF1	EYA1	TTC26	PEX26	HGSNAT	IFT43	PIGA	DYNC1I2	HPDL	ANKRD17	ACTG2	ATP6V0A2	PPP2R3C	NAA10	TBCK	DPF2	ALG9	COL3A1	PEX13	RNF2	AIFM1	NEUROD2	ORC4	IDUA	RIPPLY2	AMMECR1	GAD1	MAP2K1	DHCR24	ALX4	RPGR	SMS	PORCN	AHR	SC5D	WDR4	FSCN2	IARS2	CUL7	ARSL	HES7	DEAF1	RTL1	ADGRG6	PRPF31	SMARCE1	EXTL3	DPYD	ATP6V1A	SPECC1L	DHCR7	EYS	CBY1	TWIST2	SMARCA4	EXT1	GJA1	NALCN	SCN2A	BBS2	REEP6	BMP2	DNMT3B	CD96	SCN1A	FREM2	MED12L	CEP290	CREBBP	DDR2	MTX2	NARS2	PLCB3	TXNDC15	IMPG1	NSUN2	RALA	EDN3	CLRN1	HYLS1	TBX1	KNSTRN	PIGF	AGBL5	DMXL2	PAX3	XPC	SKIC3	PRPH2	RPE65	CEP41	CDC42	SETD1A	TTC8	POU1F1	ATP6V1B2	SLC37A4	FIG4	ZC4H2	MESP2	DHDDS	ZNHIT3	KLHL15	SMARCD1	MID1	PEX16	ZIC2	CCNK	KDM4B	SPATA7	CSGALNACT1	SPTBN1	CENPJ	EXT2	ADAMTS3	TMEM216	KIAA0753	NF1	ARHGEF18	TUBGCP4	GMNN	FGFR1	CNOT2	DGCR8	MPLKIP	SCARF2	DDB1	CEP120	PIGY	ROM1	NFIB	CA4	PIGT	MECP2	ZNF513	RP1L1	RLBP1	TCTN1	RMRP	AFF4	AKT1	CLCF1	PBX1	KLHL7	RIC1	ACTB	CASK	FOXH1	B3GALT6	PEX14	RNF125	MED12	EXOSC1	SLC29A3	LFNG	SMARCA2	PIGP	MERTK	CRX	AUTS2	KCNE5	KIAA0586	ANTXR1	EIF5A	RP1	TGIF1	MYMX	HIVEP2	PEX3	PRPF6	PLCH1	SCAPER	TUB	RAB18	ELN	SMG9	PIBF1	RDH12	IMPG2	SUMF1	OCLN	GNS	WDR35	NODAL	TMEM94	ECEL1	ERCC3	LRPPRC	KIAA1549	GLUL	TMEM70	TRIM8	TRIP12	NEK2	CANT1	IQSEC2	BRF1	UBR1	PRPS1	PIK3CD	DYRK1A	TXNL4A	PYCR2	PUS7	ARL13B	DOCK7	BLTP1	PLK4	KCNH1	CDHR1	AGA	RALGAPA1	PEX12	PIK3C2A	PRKD1	ZMYM2	DLL1	ARL6	ADAMTSL2	CSNK2A1	SEC23A	SLC2A1	SLC17A5	KCNA1	LRAT	ESCO2	IFT88	ESS2	ZNF292	SETBP1	CDC42BPB	GNPAT	BCR	ATP6V1E1	NIPBL	IER3IP1	CNGB1	NR2F1	H4C5	EDNRB	RAC3	ATIC	XPA	RBM8A	GLI2	MADD	CFAP418	IFT52	PYCR1	PEX19	TOR1A	METTL23	GDF11	SMC3	HDAC4	ASH1L	KIF15	IL6ST	PEX2	PDE4D	ZNF408	ZSWIM6	HNRNPH2	IRX5	TWIST1	ARID2	ERCC4	GRIP1	MVK	KANSL1	B3GLCT	PLOD3	MSL3	USP9X	DHX37	RHO	CRIPT	SIM1	SCNM1	CDON	GRIN1	IDH3B	TP63	DHX38	YWHAE	WLS	AIMP2	SIN3A	MAB21L1	GAS1	PIEZO2	MED25	DIS3L2	GNAI1	SLC6A1	B9D1	BUB1B	PNKP
HP_WIDE_NASAL_BRIDGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDE_NASAL_BRIDGE	PIGN	FSCN2	VPS37D	IFT122	HSPG2	YARS1	APC2	NSD2	RGR	IDH3A	HS2ST1	RARB	KIAA0753	PRPF4	PDHA1	DEAF1	ALX1	GPC4	IDS	FBN1	LTBP4	GNE	FLNA	CASZ1	PIGY	PITX2	ADAMTS3	NDUFB11	FRAS1	PRPF31	SALL4	RPS24	FBXL3	PIGL	IFT140	PEX5	FZD2	SLC7A14	DPYSL5	MEGF8	ASXL1	PCARE	EDEM3	SPECC1L	DHCR7	MITF	PEX10	RPS27	EYS	ATP6V0A2	GP1BB	ADA2	MED13	GLI3	SKIC2	LMNA	KCNN3	TAPT1	RPS28	ZEB2	EXT1	B4GALT7	RREB1	NALCN	ALG3	BBS2	REEP6	RBM10	UNC80	HNRNPR	CD96	DIS3L2	VPS33A	SCN1A	FREM2	AP2M1	RPS29	CREBBP	MLXIPL	TNNI2	ERCC5	LMNB1	ARL3	DVL1	RPL35A	GJA1	TRPS1	CHN1	IMPG1	NSUN2	WARS2	PSMD12	RP2	RALA	EDN3	CLRN1	AGO2	PTCH1	RIN2	TBX1	PRDM16	STAG2	KNSTRN	SH3PXD2B	BPNT2	FKBP6	AGA	AGBL5	CRB1	FLII	MAN1B1	KIF11	ASXL3	KIF7	PAX3	RUNX2	KMT2A	HNRNPK	DPH5	POLR1A	FOXL2	PRPH2	NEU1	COG1	PQBP1	TRIO	RPE65	PDPN	BRPF1	CHD8	CDC42	RAF1	PRKG2	RAI1	PIGO	ATP6V1A	WAC	CLP1	BCAS3	TTC8	FRMPD4	ALG2	LTBP3	ATP6V1B2	PEX1	CLIP2	MINPP1	PIK3R1	SUPT16H	PRKDC	COLEC11	XRCC4	SPEN	TRRAP	GPC6	DHDDS	MAFB	MID1	ROR2	PEX16	NR2E3	IDUA	FGFR1	SVBP	CCNK	LETM1	MYCN	CPLX1	KDM4B	KRAS	SPATA7	SPTBN1	PIGB	TFAP2A	TULP1	MAF	NUDT2	SNRNP200	GABRD	CHD2	MED12	SKIC3	RTTN	ADNP	RPL26	ARHGEF18	IGF1R	ABCC9	POLR1D	TCOF1	SEMA4A	TUBGCP4	KMT2D	PDE6A	FREM1	OFD1	TCF4	TASP1	EXOC2	RAPSN	ACTB	CDK10	TNNT3	NRL	WNT5A	CENPF	CDH11	AP4S1	RB1	GPC3	SOST	LTBP1	USH2A	ROM1	ERCC6	ADAMTSL1	MYT1L	PAH	SRCAP	TOE1	RPS19	UMPS	ATRX	PRMT7	TNPO2	PURA	CA4	CDK13	MECP2	MMP23B	ZNF513	RP1L1	RLBP1	COMT	PDGFRB	BAZ1B	RPS15A	RSRC1	BPTF	NDE1	PAX1	RMRP	ELN	CCDC22	DVL3	KIFBP	BEST1	RPS7	SLC35A2	EP300	ZMIZ1	FUT8	SEC24C	PEX6	PBX1	NOTCH2	GATAD2B	ATAD3A	TPM2	IFT57	IMPDH1	PRKAR1A	KLHL7	STAT3	PIEZO2	CASK	FLI1	PRPF8	DCHS1	SON	PGAP3	EIF4H	SHANK3	PIGT	MYH3	NAA10	CKAP2L	RBL2	ALX4	PEX14	MAP3K7	ZSWIM6	SOX6	TMEM53	NFASC	SET	HBA2	RHOA	NXN	ANKH	BRAF	AHI1	RLIM	KIZ	KCNH1	MERTK	RAB3GAP1	CRX	AUTS2	SOX10	TOPORS	PUF60	TRAPPC9	PDE6B	CILK1	ACOX1	SYNGAP1	AMER1	MAK	PTPN11	CCNQ	PIK3CD	VDR	SMARCAL1	POMGNT1	CERKL	NEK1	HBA1	RP1	RPL10	FAM161A	GPRASP2	GUCA1B	SOX5	COG5	HIVEP2	EDNRA	PEX3	CTNND2	KCNJ5	POLR1C	RPS26	KMT5B	FGD1	MEG3	RYR1	IFT52	PRPF6	CCBE1	COL27A1	FAT4	SCAPER	CTBP1	KDM6A	PIGV	TUB	GATA1	METTL27	RAB18	HYOU1	SMG9	RDH12	SKI	AP4B1	IMPG2	MYRF	COX7B	FGFRL1	EFNB1	HCCS	GTF2IRD1	TENT5A	G6PC3	KREMEN1	PEX19	KDM1A	SMARCA2	ARX	TP63	TMEM94	PRPF3	RBP3	RPL15	FANCL	SRD5A3	DDX3X	PDE6G	SNX14	AP3B1	RPL11	WNT7A	MAPK1	ACTG1	TBC1D20	SNAI2	LRPPRC	KIAA1549	SOX18	GLUL	BCL7B	MAPRE2	IFT172	NEXMIF	TMEM70	RPL27	ABCA4	PPP1R21	NCF1	NEK2	FBXO31	PTCH2	RAB3GAP2	IQSEC2	BRF1	RP9	LUZP1	ACY1	EED	COL11A1	RFC2	RPS10	TBL2	TMCO1	PIGW	PEX13	TRIM37	PACS2	PUS7	NECTIN1	PROM1	PLK4	GTF2I	SUFU	PIGG	CDHR1	KCNAB2	TUBGCP6	PEX12	PIK3C2A	MARS2	ZMYM2	PEX11B	PGAP2	RPL18	STRA6	NELFA	ARSK	KDM6B	ARL6	RPL31	STX1A	CSNK2A1	SEC23A	WDR19	RPL5	SLC2A1	LRAT	DNAJC30	KPTN	TBC1D24	ESCO2	IFT88	CTSD	SLC12A6	GATA4	TBX6	PCNT	RERE	GNPAT	B4GALT1	CNGA1	CNGB1	ERCC2	STRADA	TWIST2	HIRA	LIG4	AP4E1	H4C5	KIT	PRKCZ	TXNL4A	SLC1A4	SETD5	EDNRB	RAC3	FGF3	NOG	FOXC1	TOGARAM1	PRCD	DLK1	CFAP418	TSR2	WASHC5	NRAS	ARVCF	TOR1A	SLC35C1	KIF14	KCNJ8	BBS1	POLR1B	TRMT1	BUD23	PEX2	RAD21	ARL2BP	INTS1	SNAP29	NUP188	ZNF408	IRX5	RELN	SHOX	TWIST1	PARS2	RPS20	PKDCC	CHD3	SAG	MKS1	SEMA5A	STT3A	FLNB	KATNB1	GRIP1	KCNJ2	KANSL1	UBE4B	PDE4D	BMP2	OPHN1	PEX26	HGSNAT	OTUD6B	GTF2IRD2	KCNMA1	LIMK1	USP9X	RPS17	ERCC1	RHO	MED13L	RTL1	SCNM1	WDR35	IDH3B	DHX38	ALX3	TMEM270	WLS	ARID1B	LARP7	RPL35	SIN3A	JMJD1C	GAD1	PUM1	RPGR	SLC6A1	AHR	TBCK	UFD1	SC5D
HP_ABNORMAL_NASAL_MUCOSA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NASAL_MUCOSA_MORPHOLOGY	DNAH9	ZMYND10	GSTM3	SPAG1	DNAJB13	MCIDAS	TTC12	TAP1	DNAAF11	LRRC56	RPGR	SERPINA1	DNAI1	GAS8	DNAH11	TGFB1	CFAP221	DNAAF4	OFD1	RSPH4A	GCLC	RSPH3	NEK10	DNAL1	HYDIN	CCDC40	STK36	SPEF2	CFAP298	SLC9A3	KCNN4	ODAD4	RSPH1	ECM1	TAPBP	DCTN4	CFAP300	CCDC103	ACVRL1	CCNO	CFTR	RSPH9	HFE	DNAAF3	PTGER2	CLCA4	GAS2L2	EDNRA	DNAAF2	CCDC65	STK11	TAP2	DNAAF6	SLC11A1	HLA-DRB1	DNAAF5	SLC26A9	DNAAF1	ODAD3	FOXJ1	CEACAM3	NME8	UNC119	CEACAM6	STX1A	DRC1	BTNL2	TBX21	SLC6A14	CCDC39	ENG	MIF	ODAD1	FCGR2A	ODAD2	DNAI2	HMOX1	DNAH1	DNAH5
HP_ABNORMAL_NASAL_TIP_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NASAL_TIP_MORPHOLOGY	EXTL3	NACC1	ODC1	CTCF	CUL4B	HS2ST1	ARSL	RARB	CPLANE1	HECW2	ZBTB20	RBMX	KIAA0753	PIGY	KCNJ6	SMARCB1	RNU4ATAC	ASXL3	FBXO28	DPYD	FBXL3	PRKAR1A	SPOP	ATP6V1A	EDEM3	COL18A1	TCF4	GP1BB	TWIST2	SMARCA4	KCNN3	ATP6V1E1	SLC25A46	PHF8	FBN1	TBL1XR1	MMP2	TBC1D23	ZEB2	WAC	EXT1	CAMTA1	RREB1	CCDC8	KAT6A	DYRK1A	OBSL1	ALG3	PQBP1	PTPRF	TAF1	KDM5B	PHIP	ARID1B	KCNJ2	MED12L	HK1	TOPORS	ASXL2	MTX2	TRPS1	FREM1	RUSC2	HSPA9	YY1	TBX1	ATP6V0A2	KIF11	STAG2	KNSTRN	PACS1	TCF20	APC	KATNB1	TUBGCP2	HNRNPK	ARID1A	KIF7	TRIO	CDC42	ATN1	SMARCAL1	FOXP1	EBF3	PIGO	SMARCD1	MED13L	EIF2S3	FRMPD4	GATAD2B	PDE4D	POU4F1	LTBP3	ATP6V1B2	HDAC8	SUPT16H	COLEC11	KANSL1	SPEN	TRRAP	SCYL2	EXT2	LMNA	SATB2	SC5D	PDE6D	IDUA	PRKAR1B	PCGF2	CCNK	MYCN	EXOSC2	KDM4B	CSGALNACT1	SPTBN1	TFAP2A	FZD2	ABCC9	SPRTN	STXBP1	ADAMTS18	MED12	LAS1L	ADNP	AP4B1	HDAC4	KMT2D	CTNNB1	FOXG1	CLPB	POGZ	SYT1	EPG5	EXOC2	ACTB	CDK10	MADD	DGCR8	SMS	CDH11	AP4S1	SLC35C1	LTBP1	KIF15	TOE1	ATRX	PRMT7	CDK13	PRKACB	COMT	PRKACA	KIFBP	SEC24C	KDM6A	CHRNA7	FLNB	PGAP3	SHANK3	WDR26	NAA10	ALX4	HUWE1	ZSWIM6	MCTP2	SET	COG4	GJA8	METTL5	SMARCE1	SOX11	UNC80	TLK2	SMARCA2	KCNH1	SRCAP	AP4E1	AUTS2	HRAS	COL1A2	WASHC4	FLCN	CDK19	CILK1	NHEJ1	CCNQ	NXN	KDM3B	TBX4	NRAS	PPP3CA	FMR1	EIF5A	MAN1B1	KAT5	CLCN3	ACTL6B	AFF3	QRICH1	SOX5	MPDZ	KCNJ5	MYMK	MAP3K7	CSF1R	XRCC4	BCOR	PIGV	ECE1	MBD5	ELN	KMT2B	TCTN3	PHF21A	COL11A2	CCDC47	WDR62	H4C3	ABCA5	CPT2	TMEM231	KDM1A	CEP57	SMPD4	POC1A	RPS6KA3	DGCR6	FANCL	SRD5A3	DDX3X	JAG1	SIX2	ACTG1	ECEL1	PIGQ	OFD1	MAPKAPK5	AIFM1	FBXO31	SLX4	RERE	DLX4	PURA	PIK3CD	GLB1	CPLX1	COG6	LRP2	PYCR2	EFEMP2	KAT6B	TGFB3	DOCK7	MUSK	SNX14	SMG8	MLXIPL	GPAA1	DOCK6	BPTF	CENPJ	SMARCC2	ZMYM2	ALDH1A2	PGAP2	BICRA	RNF135	CHD5	CEP55	AGL	CIT	MRAS	TBC1D24	ESS2	TBX2	ZNF292	DGCR2	CDC42BPB	SNRPN	CUL7	SMG9	PTCH1	SNIP1	RAB3GAP1	KPTN	HIRA	PPP2CA	H4C5	SETBP1	LMX1B	ALDH6A1	SOX4	C2CD3	MYO18B	AP4M1	FLNA	POR	ARVCF	PUF60	PRIM1	SETD5	ZMPSTE24	INTS1	TWIST1	TP63	TFAP2B	ARID2	RAB3GAP2	TGIF1	SH3PXD2B	GJA5	NSD1	SMC3	MESD	PIGW	PYCR1	DYNC1I2	CASK	SIM1	TMEM216	TBCK	DPF2	SCNM1	ALX3	KCNK9	USP9X	CLIC2	SIN3A	JMJD1C	BRAF	TONSL	MED25	RYR1	EFNB1	FAM149B1	IGF1R	PORCN	UFD1	KMT2A	PIGL
HP_DEPRESSED_NASAL_TIP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEPRESSED_NASAL_TIP	TGIF1	FLNA	EPG5	EXOC2	MYCN	PHF21A	TBX2	ACTB	MUSK	KDM6A	SPTBN1	EXT2	ZEB2	EIF2S3	PRIM1	PTCH1	ALX4	NAA10	CILK1	POGZ	FANCL	TAF1	COLEC11	KMT2D	ACTG1	TP63	KMT2A
HP_CONVEX_NASAL_RIDGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONVEX_NASAL_RIDGE	ELN	GRIP1	ERF	ITCH	LETM1	CTSK	CPLX1	IL11RA	CSGALNACT1	FGFR2	TRIP13	CENPT	ASPH	LMNA	RNASEH2A	EP300	RNASEH2C	LIG4	RNU7-1	XRCC4	ATR	CTBP1	COG4	NSD2	ATP7A	NUP85	CREBBP	TWIST1	ZMPSTE24	CEP152	POLD1	FGFRL1	DONSON	SCARF2	ZEB2	LTBP1	NBN	ASH1L	LRP4	PCNT	TBCE	LSM11	MGAT2	FGFR3	LEMD2	VPS13B	PRPS1	SLC25A24	NUP188	COL1A2	RNASEH2B	RMRP	BANF1	POLR3A	TRAIP	MEIS2	SLC2A10	SATB2	ERCC2	ATRIP	WRN	PLK4	UBR1	IFIH1	C12orf57	PPP2R3C	MBTPS2	ALG9	SAMHD1	ADAR	EFEMP2	RBBP8	RLIM	COL1A1	COL3A1	ZPR1	RUNX2	NEK9	ERCC4	DNA2	PEX1	APC	TREX1	NHEJ1	PTF1A	CENPE	DPF2	CENPJ
HP_WIDE_NOSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDE_NOSE	GRIP1	MGP	MAN1B1	DVL1	KAT6B	BUB3	TMCO1	IL11RA	TBX1	KCNH1	CEP57	ASPH	DLK1	QRICH1	IDS	STXBP1	SMG9	VPS53	RTL1	ADAMTS18	YWHAE	GPC4	NANS	MEG3	DYNC2I1	HDAC4	NDUFB11	HMGA2	AVP	SMARCE1	FUCA1	ATP6V1B2	DVL3	LMX1B	FZD2	WDR35	BRCC3	ALG12	TOGARAM1	ACTB	TCTN3	COX7B	WNT5A	INSR	AIP	TONSL	TWIST2	DONSON	HCCS	CDH11	TBL1XR1	IDUA	BUB1B	SMARCA4	RPS6KA3	CAMTA1	RAI1	PAFAH1B1	SMARCA2	IFT80	SETBP1	STAMBP	LARP7	CRLF1	VPS33A	OTUD6B	TRMT10A	COG7	ACTG1	POR	RELN	NOTCH2	ZNF341	CLCF1	FRAS1	DYNC2H1	SATB2	SEC23A	KATNB1	TRIP13	MOGS	LMBRD2	PIGG	PPP1R15B	NDE1	CKAP2L	LEMD3	STAT3	KIF11	FGFR1	RNF125	PAM16	SKIC3	TRIM37	ARID1A	WLS	RNF2	ESCO2	GDF5	CHD8	SIN3A	FHL1	DYNC2I2	ACY1	SETD1A	KCNN3	PRRX1	POU4F1	SMARCB1	OFD1	GPR101	SLC37A4	PHGDH	PTEN	EPG5	DPF2	BUB1	WBP11	KMT2A	PPP1CB
HP_NARROW_NASAL_BRIDGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_NASAL_BRIDGE	CREBBP	NPAP1	RNF13	TGIF1	PPP1R21	GJA1	SNORD115-1	MDM2	EP300	NDP	COL3A1	TDGF1	SNRPN	MKRN3	SRCAP	PWRN1	MAGEL2	FOXH1	SUFU	BMPR1B	KCNJ6	SNORD116-1	PWAR1	RECQL4	COG4	PAX3	CDON	FGFR1	MED12	ZIC2	PORCN	GLI2	KCNK9	SMARCA2	DISP1	SHH	GDF5	NONO	MMP2	GAS1	RNU4ATAC	SIX3	PTCH1	NODAL	HERC2	NFIB	HNRNPR	SIM1	DLL1	FGF8
HP_PROMINENT_NOSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_NOSE	LIG4	EXTL3	ADAT3	RNU4ATAC	ERCC6	MAN1B1	KAT6B	CTSK	BLM	APC2	ITGA3	AARS1	PLAGL1	PCNT	CUL4B	CENPT	ASPH	QRICH1	SNRPN	COG5	ZNF699	MED12	EP300	GPC4	DENND5A	GNB2	ACER3	TTI2	H4C5	ERCC8	EIF4A3	FBXL3	MBD5	TAF6	FGF3	CDK5RAP2	ACTB	EMG1	TTC5	AP1S2	AP4S1	MINPP1	NHS	TAB2	NBN	ASH1L	PLK4	PEX19	SPOP	CENPE	POC1A	TMEM94	PMM2	DCAF17	ACTG1	STIM1	BCL11B	NIN	EXOSC5	LMBR1	CREBBP	STIL	CHD3	RBBP8	ERCC2	GJA5	PSMD12	RUSC2	NSUN2	PSMB8	INTU	OPHN1	STAG2	GMPPA	DYNC1I2	USP9X	SOX6	GJA8	METTL5	RLIM	UNC80	HYMAI	PEX3	SRCAP	WDR73	NFIX	SPART	FHL1	NONO	ATR	SMG8	PDE4D	BPTF	CDK19	CLTCL1	CEP120
HP_CHOANAL_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOANAL_STENOSIS	FRAS1	FGFR2	POR	SETBP1	PTH1R	POLR1D	SCARF2	FAM20C	DCHS1	PTDSS1	MBTPS2	NFIX	FGFR3	MSL3	SALL4	CEP55	SOST	FGFR1	TXNL4A	POLR1B	ASXL3	RECQL4	FAT4	PAICS
HP_FLARED_NOSTRILS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLARED_NOSTRILS	CDC42	SMOC1	CAMTA1	TCF4	SIN3A	PDHA1	NAA10	USP9X	ANKRD17	BRCC3
HP_BROAD_NASAL_TIP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_NASAL_TIP	IDUA	HNRNPK	EXTL3	TBC1D24	PRKAR1B	CCNK	NACC1	EXOSC2	TBX2	CTCF	CDC42BPB	HS2ST1	ARSL	RARB	TFAP2A	EXT2	ABCC9	CPLANE1	ZBTB20	QRICH1	ATP6V1E1	SNRPN	SRCAP	SMG9	ADAMTS18	KIAA0753	LAS1L	DPYD	ADNP	RAB3GAP1	KPTN	MYMK	PPP2CA	SMARCB1	HDAC4	H4C5	FBXO28	DOCK7	XRCC4	SETBP1	CTNNB1	PRKAR1A	POGZ	SOX4	ELN	ATP6V1A	TCTN3	ARID1B	PHF21A	CDK10	PUF60	SMARCA4	KCNN3	PHF8	H4C3	TBL1XR1	LTBP1	YY1	KAT6A	POC1A	RPS6KA3	TOE1	PTPRF	TAF1	PRMT7	PHIP	SIX2	ZSWIM6	TWIST1	PIGQ	TFAP2B	ARID2	RAB3GAP2	TOPORS	SH3PXD2B	ASXL2	OFD1	GATAD2B	KDM6A	NSD1	AIFM1	FLNB	BCOR	PGAP3	ATP6V0A2	KIF11	HUWE1	PIGV	KNSTRN	PURA	APC	PIK3CD	MCTP2	CASK	GLB1	DYRK1A	SET	TMEM216	DPF2	ASXL3	COG6	LRP2	METTL5	SMARCE1	SOX11	TLK2	ALX3	ARID1A	KIF7	KCNK9	KCNH1	CDH11	HDAC8	SMARCAL1	FOXP1	EBF3	PIGO	WAC	MLXIPL	EIF2S3	GPAA1	HRAS	ALX4	RYR1	BPTF	FAM149B1	ATP6V1B2	WASHC4	SMARCC2	ZMYM2	SUPT16H	PGAP2	CCNQ	NXN	KDM3B	RNF135	IGF1R	PORCN	AGL	SMARCD1	NRAS	SATB2	MAP3K7	PDE6D
HP_BIFID_NASAL_TIP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIFID_NASAL_TIP	ALX3	EFNB1	CENPJ	NAA10	ATP6V1B2	ALX4	ZSWIM6	BCOR	FZD2	FREM1	SCNM1	CDH11	H4C3	HSPA9	FRMPD4	KAT6A
HP_DEPRESSED_NASAL_RIDGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEPRESSED_NASAL_RIDGE	DISP1	CSPP1	SOX9	MN1	FGFR1	ZIC2	AASS	BUB3	STIL	TBX1	ARSL	PLCH1	CEP57	RERE	RPGRIP1	LBR	GABRD	RET	TGIF1	HDAC6	TXNDC15	DLL1	FAM20C	CASZ1	B9D2	EDA2R	TWIST2	PRMT7	TCTN2	RPS19	SHH	GAS1	NODAL	SOX3	GLI2	CDON	TCTN3	STAG2	TMEM107	TFAP2B	PTCH1	PAX3	PRKCZ	SPEN	PROP1	GMNN	MBD5	TDGF1	SIX3	DZIP1L	SKI	HSPG2	FGF8	TMEM67	GREB1L	GLI3	EFNB1	SLC35C1	BUB1B	TRAF6	FOXH1	WNT9B	MKS1	MMP23B	KDF1	TCTN1	FGF20	SNAP29	CHRND	RMRP	TMEM231	LMBR1	CREBBP	PSAT1	OTX2	EDAR	TRIP13	PRKAR1A	MAN2B1	HSPA9	CEP290	UBE4B	PDE4D	MYH3	GLB1	LHX4	ALX4	PRDM16	LUZP1	PTPN11	ATRX	EDARADD	PIGL	SMC1A	TMEM237	NALCN	TMEM216	SKIC3	HESX1	PEX12	CHRNA1	PDPN	ABCA12	ITGA8	CHRNG	PAX7	EDA	GHR	BMPER	KCNAB2	B9D1	POU1F1	PEPD	CC2D2A	FOXA2	PKHD1	PHGDH	GH1	GFRA1	BUB1	CNOT3	RPGRIP1L
HP_ANOSMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANOSMIA	ARSL	PROKR2	PHYH	SOX10	PROK2	FEZF1	CCDC141	FGF17	SEMA3E	SMCHD1	FGFR1	OTX2	CHD7	DUSP6	SLC39A14	FGF8	SCN9A	FGFR3	PEX7	KISS1R	DNAI1	FGF10	TCF12	IL17RD	WDR11	SEMA3A	SHH	ARNT2	DCC	ANK1	LZTFL1	MFN2	SOX3	HESX1	SOX2	ANOS1	NSMF	HS6ST1	NDNF	ADCY3	TACR3	GNRH1	SPRY4	ATP13A2	FLRT3	FGFR2	TAC3
HP_NARROW_NOSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_NOSE	CARS1	DDR2	GJA1	TWIST1	POLR3A	FGFR2	SCARF2	ACP5	POLE	PDGFRB	ERCC8	SMC1A	CCNQ	COL5A1	EYA1	ERCC6	TRRAP	RNU4ATAC	HYOU1	ABL1	MED12	SATB2	TP63	FBN1
HP_ABNORMALITY_OF_THE_NECK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_NECK	GABRA3	ODC1	VPS37D	POU1F1	TMCO1	HS2ST1	IFT43	THAP1	LMNA	LBR	GNE	ZNF699	HYLS1	C9orf72	MEOX1	MINPP1	PIGY	RNU4ATAC	SPG11	PTPN11	SALL4	PGAP1	FZD2	MEGF8	VCP	NSD2	EDEM3	VPS51	SIX1	NKX6-2	SCN9A	ROBO3	FBXW11	GP1BB	ADA2	FHL1	TPM2	TAPT1	RPS28	MECP2	MESP2	ANKRD11	XYLT2	COL6A1	CCDC8	OBSL1	CFL2	UNC80	HNRNPR	SYNGAP1	VPS33A	TUBA1A	COL6A2	HK1	RPS29	CREBBP	TRPV4	STAG1	LZTR1	TNNI2	ERCC5	DDRGK1	DVL1	RPL35A	TRIP13	CHN1	PIEZO1	GLE1	FGFR3	ABCC6	KCTD17	PPP2R5D	MKS1	GNAS	APC	IGF1	FKBP6	KMT2A	HSPG2	IGBP1	CSPP1	COG1	LHX3	BAP1	COL2A1	DYM	POFUT1	ATN1	SMARCAL1	CHD7	WAC	NEK9	HPCA	SUPT16H	AEBP1	MPL	CDH2	COLEC11	RPS10	CAVIN1	USB1	SCYL2	MAFB	EYA1	SCN1B	MAP2K2	MAN2B1	PPP1CB	FTO	SRY	COL6A3	RAD21	SOX10	PCGF2	LETM1	DLL3	MYH7	FOXF1	CUL4B	ERMARD	GABRD	STXBP1	ATP1A2	TOR1A	NBAS	RPL26	IGF1R	COX20	ABCC9	POLR1D	HNRNPK	TCOF1	TGM6	INTU	ATP6V1B2	ATP1A3	SELENON	TCF4	TBK1	CBL	ITGA7	NOTCH3	ACTB	FLI1	MADD	WNT5A	KIAA0586	TGDS	RB1	GPC3	FANCI	MAPT	PRMT7	NR4A2	WDR37	WDR35	ALS2	PSEN1	TRMT10A	COG7	VAC14	BAZ1B	RPS15A	CCDC22	DVL3	ACAN	DOK7	SEC24C	TRAF7	GPC4	NOTCH2	SHOX	MICU1	PRRT2	PEX16	EIF4H	GLB1	TTC8	SMC1A	MCTP2	FLNA	NXN	GJA8	PIGO	PAM16	BRAF	SCAPER	SRCAP	CEP290	TRIP11	SOX9	SLC35D1	PNKD	CAV1	RAF1	PIK3CD	ACVR1	BUB1	IRF3	CNOT3	CHMP2B	TMEM260	BRD4	HBA1	MGAT2	GDAP2	CP	SHOC2	B3GALT6	NF1	GRN	NAA10	PRDX3	POLR1C	NANS	ZMPSTE24	HABP2	MEG3	GPKOW	EMD	CTBP1	AMMECR1	GATA1	RRAS2	METTL27	MBD5	XYLT1	TBX1	KMT2B	WNT4	INPPL1	CDK5	FGFRL1	MYOD1	SPRED1	BUB1B	WDR81	MRAS	SMPD4	CPLX1	PEX1	FOXC2	GDF6	FANCL	KRAS	CNP	OTUD6B	WNT7A	PAICS	TICAM1	PEX6	BCL7B	PEX19	IDS	CFAP418	NCF1	FAM20C	MYH3	BBS1	NUP88	CRKL	RPL10	PTCH2	PPP1R15B	BCOR	FUS	DCC	SDCCAG8	SMAD4	UBE2A	PEX13	HRAS	MUSK	HDAC8	SOS1	PSENEN	GPC6	BMPER	PIGG	SQSTM1	KRT5	RAB3GAP2	PIGN	CACNA1A	PHGDH	GDF3	MAPK1	CEP55	RPL18	RPL31	TIMM50	ROR2	PEPD	CIZ1	SLC26A2	TBC1D24	ELN	TBX2	GATA4	NOG	NEB	TBX6	NAXE	B4GALT1	SIX5	SNRPN	TRIM32	ANTXR2	PEX11B	NLRP1	HIRA	RPS19	PRKCZ	SETBP1	PEX12	MRPS22	KCNH1	MYO18B	MKKS	DLK1	H3-3A	WASHC5	ARVCF	MRPL12	PUF60	PTEN	ALG9	RDH11	FGD1	KCNJ8	SCN1A	PAFAH1B1	ANO3	BUD23	PGAP2	KLHL41	SLC25A24	NUP188	PEX2	MAP2K1	RPS20	SCN2A	SH3PXD2B	SEMA5A	CLDN11	GJA5	TBL1XR1	HESX1	LIFR	KIF1C	GCH1	LIPE	UBE4B	MEFV	ALG8	PIGW	PIGA	HPDL	RPS17	ERCC1	SGCE	ATP6V0A2	DHPS	KCNN2	PIK3CA	TBX15	DDR2	SLC2A1	CEP85L	IDUA	JMJD1C	RIPPLY2	GALNS	TECPR2	B3GAT3	TREM2	RAPSN	EFNB1	PEX26	SMS	SNRPB	TBCK	WBP11	MAP3K7	GUSB	BBIP1	CHRNG	CUL7	HES7	NDE1	TBP	RIT1	FOXE1	CASZ1	COL11A1	IDH1	ACTA1	CANT1	CEP19	DPYD	FGFR2	RPS24	PIGL	IFT140	ENPP1	COL11A2	ATP6V1A	DHCR7	RPS27	NPHP1	RSPRY1	BBS5	SOS2	PHF8	ATP13A2	MED12	RREB1	NALCN	RRAS	TAF1	LAMA5	MLXIPL	TXNDC15	PIEZO2	HSPA9	PSMD12	SPTLC1	PTCH1	PRDM16	TGFB2	KNSTRN	MAN1B1	TUBB4A	RTL1	POLR3A	PDPN	CDC42	SMARCD1	MED13L	IMPDH2	CLIP2	FIG4	TUBB	ZC4H2	ACTG1	BBS2	PRKAR1B	BUB3	KDM4B	CSGALNACT1	SPTBN1	FANCB	NDUFS3	POGLUT1	NRAS	GPX4	ARHGEF2	POGZ	ATP7A	SPRED2	FBLN5	ALG12	DOHH	TASP1	CDK10	TNNT3	DONSON	PEX5	CHST3	ERCC6	TRAF3	ADARB1	B3GLCT	ATRX	FLNB	CDK13	MMP23B	COMT	ZNF142	BPTF	RMRP	SVIL	AKT1	KIFBP	PSAT1	EP300	LRP1	RAB5IF	IFT27	ERLIN2	CCN6	HUWE1	BSCL2	NDUFB10	HBA2	LFNG	SMARCA2	BRF1	BBS4	KCNN3	SIGMAR1	TRAPPC9	RPS7	AMER1	UNC93B1	NFIX	GABRA1	ADAT3	THPO	AFF3	COG5	FOS	CTNND2	RPS26	RNF170	ALDH18A1	POP1	BBS10	BBS12	SPEN	PIGV	SKI	KCNC3	STX16	LZTFL1	SLC39A13	GATA2	PEX3	GTF2IRD1	PRKRA	GNS	TCTN2	DKK1	EXOC6B	EBP	TMEM94	RPL15	MYL11	RPL11	FBN2	ECEL1	CHRND	MRPS28	MAPRE2	WDPCP	RPL27	TTN	COL12A1	AIFM1	FGFR1	SCP2	PCDH19	PPARG	LUZP1	VPS16	DDC	CD96	MRPS16	RFC2	TBL2	GNAL	CDH11	BLTP1	TUBB3	GTF2I	TRAPPC2	KCNAB2	PROP1	ZMYM2	ALDH1A2	NKX3-2	TFAP2A	NELFA	STX1A	RPL5	EXOSC9	DNAJC30	ESCO2	CDC42BPB	CEP57	RERE	BCR	ATP6V1E1	NIPBL	RIPK4	LHX4	POLE	ERCC2	YWHAE	TLR3	GNPTG	RAB23	H4C5	SLC35A2	LMX1B	IFT74	C2CD3	TOGARAM1	ALDOA	TSR2	RAB33B	TMEM106B	TMEM216	SMC3	FN1	RFT1	PEX10	SUFU	HDAC4	NBN	SF3B2	HERC1	POLR1B	ARL6	GABRG2	IL6ST	INTS1	RASA2	IRX5	TWIST1	RAB3GAP1	PKDCC	MYF5	SATB2	PEX14	PALB2	CYP27A1	IFT172	DRD2	PLXNA1	NKX2-1	BBS7	GTF2IRD2	LIMK1	MSL3	KIF7	DHX37	PGAP3	BBS9	LMOD3	SLC18A3	SCNM1	CRLF1	TMEM270	CHRNA1	SLC35A1	RPL35	SIN3A	TBR1	OTUD5	PIK3C2A	RYR1	OFD1	PIGS	AGPAT2	UFD1	VPS11	TALDO1
HP_WEBBED_NECK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WEBBED_NECK	BCOR	CHRNG	LETM1	CPLX1	TBX2	SHOC2	RIT1	STXBP1	NAA10	LMNA	NRAS	MYH3	MEOX1	RPS26	RPL26	BRAF	IGF1R	RPS19	PTPN11	KRAS	CBL	SALL4	AEBP1	RPS24	CTBP1	GATA1	RRAS2	NSD2	PIGL	LMX1B	C2CD3	SPRED2	MEGF8	MYO18B	SOS2	TASP1	FBXW11	RPS27	ACTB	TSR2	FGFRL1	TNNT3	ADA2	SMS	CHST3	SLC39A13	RAF1	GATA2	TAPT1	RPS28	RB1	GPC3	ANKRD11	XYLT2	FOXC2	ZMPSTE24	RRAS	MRAS	TMEM94	GDF6	B3GLCT	RPL15	FANCL	LZTR1	RASA2	LAMA5	RPL11	MAP2K2	MAPK1	ACTG1	RPS15A	TNNI2	CDC42	RPS29	MAP2K1	PPP1CB	DVL3	RPS20	RPL27	GPC4	RPL35A	TPM2	CHN1	PIEZO1	FLI1	NALCN	NF1	NKX2-1	MKS1	RPS17	PIK3CA	HRAS	KMT2A	RPS10	BLTP1	SOS1	SLC35A1	RPL35	CHD7	BMPER	B3GAT3	GLE1	RYR1	SNRPB	ALDH1A2	GDF3	RPS7	RPL18	AMER1	MAFB	RPL31	WBP11	MAP3K7	RPL5	SRY	TMEM260
HP_LIMITED_NECK_RANGE_OF_MOTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_NECK_RANGE_OF_MOTION	PCDH19	MEOX1	GABRA1	SCN2A	MYL11	SCN9A	GABRG2	SCN1B	GDF6	SCN1A	NOG
HP_NECK_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NECK_MUSCLE_WEAKNESS	ACTA1	KLHL41	SLC25A1	POLG	MYL1	ADCY5	CHRND	CFL2	NEB	SLC52A3	FA2H	DES	LRP4	MORC2	TRIP4	COLQ	SLC18A3	TRIM32	GFPT1	SPG11	DYSF	TGM6	TPM2	MT-CO3	COL13A1	TTN	LMNA	SGCG	CAV3	KBTBD13	AGRN	CHRNB1	CHRNA1	CRYAB	CHCHD10	SYNE1	CHAT	CNBP	GYG1	LPIN1	SCN4A	PNPLA2	SELENON	PSAP	RRM2B	GMPPB	COL6A3	SLC5A7	SNAP25	PYROXD1	AK9	COL12A1	MTM1	PRPS1	JAG2	MYH7	MUSK	TOP3A	SLC52A2	LAMB2	VAMP1	MYH2	CHRNE	SPTLC1	ALS2	GALC	SLC22A5	MYOT	TPM3	FUS	COL6A2	LMOD3	RAPSN	PABPN1	NOTCH2NLC	RNASEH1	DOK7	MYPN	SIGMAR1	SYT2	ORAI1	LRIF1	TMEM43	COL6A1	MYO9A	LAMA2	MT-CO1
HP_LONG_NECK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_NECK	HERC1	FLNA	EBP	POLR3A	GABRA3	ATP7A	EYA1
HP_THICKENED_NUCHAL_SKIN_FOLD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICKENED_NUCHAL_SKIN_FOLD	PIGN	SLC26A2	PSAT1	PEX6	TBC1D24	LZTR1	TRAF7	GRN	PEX19	PEX14	FOXF1	CHMP2B	ABCC6	PEX16	PEX11B	NRAS	C9orf72	RNU4ATAC	CBL	HNRNPK	PEX1	SLC35A2	PEX12	RRAS2	ALG9	ENPP1	MAPT	VCP	GATA1	PEX13	SOS2	HRAS	KRAS	TMEM106B	EFNB1	TREM2	TRIP11	PEX3	PTPN11	PEX5	SPRED2	SQSTM1	PEX10	OFD1	EBP	ATP6V1B2	RRAS	MRAS	PEX26	RIT1	SOS1	RASA2	LAMA5	PSEN1	PEX2	RAF1
HP_BROAD_NECK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_NECK	UBE2A	IGBP1	TECPR2	TOGARAM1	COG1	MAPRE2	RAPSN	RPS26	SLC2A1	NF1	PSMD12	POLE	MED12	HYLS1	NUP88	ZMYM2	B3GLCT	PHGDH	DHX37	RPS28	CCDC22	WNT7A	TWIST1	BPTF	MEGF8	PPP1CB	SVIL
HP_CYSTIC_HYGROMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CYSTIC_HYGROMA	MAP2K1	SLC26A2	HNRNPK	ESCO2	DOK7	LZTR1	TRAF7	CDC42BPB	IFT43	FOXF1	COL2A1	LBR	NUP88	MYOD1	NRAS	PTPN11	CBL	MCTP2	SLC18A3	RRAS2	MESP2	WDR35	DLL3	SOS2	KRAS	BRAF	CHRNA1	BLTP1	CHRNG	DONSON	TMEM216	TRIP11	SPRED2	TGDS	RAPSN	PIGS	RRAS	MRAS	FOXC2	RIT1	CEP55	SOS1	RASA2	LAMA5	MUSK	RAF1	TUBA1A	CHRND
HP_ABNORMAL_RETINAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RETINAL_MORPHOLOGY	GUCY2D	MT-ND4	SDHB	NDUFA9	COL2A1	VPS37D	TRNT1	SDHD	PRPF4	RPGRIP1	HGSNAT	CNGA1	GABRA5	CNNM4	PRCD	ATF6	CEP41	NDUFB11	MT-CO3	FOXC1	FZD4	KLHL7	FKRP	PGAP1	SLC7A14	OCA2	PCARE	RNF113A	PEX10	GP1BB	MORC2	LRAT	GRK1	PPT1	TMEM67	TRAF3IP1	WAC	LTBP2	TNFRSF11A	ARV1	HADHA	NDUFA2	ABCA4	MAX	HBG2	CACNA1F	MFSD8	IMPG1	TIMP3	PRPH2	CFHR1	DNAH1	RPGRIP1L	CRB1	NRCAM	POLR3A	MFRP	ZNF408	VPS4A	POMT1	ERCC5	ARL3	PGK1	PRTN3	CHN1	CFAP410	MECR	WARS2	YWHAG	PRPS1	ERCC8	BBS7	MAK	ELOVL4	C12orf57	FKBP6	FLII	CLRN1	NCAPG2	NMNAT1	MT-ND6	APC	GUCA1B	POMGNT1	CCND1	MT-ATP6	MKS1	COG1	MCIDAS	KIF1B	GAS2L2	CHD7	RAI1	WT1	HBB	PEX2	POMGNT2	GABRA2	MAFB	IL12A-AS1	SLC6A6	NR2E3	BEST1	EXOSC3	TUBB	MT-ND5	CLDN19	PAX6	IKBKG	ARL2	USH1C	TULP1	VHL	SNRNP200	SIX6	GGCX	TTPA	PDE6G	GNAT2	SCAPER	SCN3A	CDKN2A	TCTN3	RHO	SEMA4A	LRIT3	PDE6A	CAPN5	MIR204	ACTB	ZNF423	LRP5	KIAA0586	TREX1	TYR	SURF1	XRCC4	RB1	SALL2	USH2A	DNAAF1	TTLL5	MT-ND1	NDUFS8	COL11A1	HEXB	SPATA7	HCN1	PNPLA6	MAPKAPK3	CCDC22	MT-CYB	RAB28	IMPG2	IMPDH1	MAN2B1	PROM1	RPE65	WRN	EIF4H	TTC8	PEX11B	GPR143	IFT140	LZTFL1	DYRK1A	MT-TF	WDR19	AIRE	FAM111A	INPP5E	AHI1	LAMA1	FAS	LIPH	LOXL3	RAX2	CEP290	PEX1	APOE	PDE6B	STUB1	PEX12	FZR1	SYNJ1	PEPD	SOX10	ROM1	TRAPPC9	CNGA3	ETHE1	CCDC39	GPIHBP1	GRHL2	VPS35L	CERKL	SH2B1	NEK1	COL9A2	MMACHC	SCN8A	BAP1	SACS	IL10	CLCNKB	NYX	NECAP1	STN1	CC2D2A	MEG3	ARL6	TRIM44	MTSS2	METTL27	ATP1A3	SYNGAP1	GNAT1	ANO10	FGF3	ARHGEF18	CTNS	MKKS	TMEM231	RBP3	ERCC4	HADH	FGF12	CPLX1	PRPF3	RPGR	NME8	PMM2	PDX1	CP	TBC1D20	TRIM32	ACVRL1	IFT172	NDP	RS1	GPR179	NCF1	AIPL1	RAB3GAP2	DNAH11	CEL	CHRDL1	CYP4V2	RP9	FOXRED1	IFNGR1	HYDIN	KLF1	SDCCAG8	TMEM216	CFAP418	RD3	KRIT1	TMCO1	PEX13	HACE1	CLN3	BBS2	FBN1	GM2A	PISD	DNAAF2	MED12	LPAR6	ERCC6	MLXIPL	RNU4ATAC	TUBGCP6	B9D1	GNB5	UGP2	CNGB3	POMK	CEP120	ALG6	POC1B	ASAH1	GNB3	PIK3CA	NDUFS2	ERCC3	KCNJ11	PEX19	KCNA2	IQCB1	MYO5A	HIRA	ZFYVE26	MT-CO1	CHM	DNAJC30	TSC1	C4A	RDH5	HSD17B10	SAG	IL23R	CTNNA1	BCL11A	RRM2B	ARVCF	NSMCE2	IFNG	ARL2BP	HLA-B	BBS1	CARS1	DCT	ASPA	CTC1	WWOX	CYSLTR2	SIX3	KCNB1	DPM1	DNAH9	NEK2	RAB3GAP1	KATNB1	DNAAF11	PTEN	ADGRV1	MT-TW	PEX26	CASK	ATP6V0A2	SH3BP2	ANK1	CTNNB1	SLC45A2	CABP4	CRX	CYFIP2	EYS	RNASEH1	TMEM218	TK2	POT1	NF2	CHST14	CTBP1	ODAD1	FSCN2	ALDH1A3	LCA5	HSPD1	RLBP1	DEAF1	DNM1	MT-ND2	IDS	ATOH7	FKTN	CACNA2D1	IPO8	SPG11	VPS41	PLOD1	GDF6	PEX5	CFAP300	SLC25A15	COL18A1	MAGEL2	MYOC	NPHP1	MT-TL1	BBIP1	BBS5	PDE6C	CCDC65	RREB1	PLK4	TTC21B	RNF216	HMX1	ACTL6B	PANK2	POMT2	CFH	NDUFA12	ALG12	DYNC2I2	DDR2	BLK	DYNC2I1	LARGE1	DST	DHDDS	TBX1	C2CD3	AGBL5	OVOL2	PIEZO2	BBS9	BLOC1S3	COA8	DNAAF5	MT-TS2	NLRP3	NDUFS3	NEU1	TSPAN12	MT-TQ	PEX16	ENPP1	RET	NDUFA4	HCCS	DYNC2H1	PHYH	OPN1MW	SPTBN1	PRUNE1	LYST	RTTN	COQ2	ABCC6	GUCA1A	NDUFV1	GSS	EPG5	CSPP1	DGCR8	KIZ	RGR	NDUFAF3	MT-TV	CLCN3	AARS1	TMEM98	TRAK1	FLNB	RP1L1	BLM	GRM6	DNAI2	ELN	TNFRSF11B	CLN6	RIMS1	AKT1	AMACR	CDHR1	PCNA	TTC12	B4GAT1	MC1R	ALDH3A2	DNAI1	RDH11	GDF3	MDH2	TENM3	PEX14	G6PC1	COX8A	OCRL	ITM2B	CELF2	PUF60	ACOX1	LMNA	CCNQ	NDUFV2	PEX3	FBLN5	BBS10	TMEM107	ODAD4	PCDH15	TUB	RAB18	GRN	MERTK	CLEC3B	AP3B2	CNKSR2	ACO2	COX7B	RP2	SUMF1	OFD1	RBP4	OPN1LW	DRAM2	TERC	PAX4	XYLT2	YAP1	KIAA1549	CACNA2D4	CRYAB	VPS13B	SLC38A3	NGLY1	LETM1	HLA-A	LOXL1	MPLKIP	SYCE1	ATG7	GLB1	CFAP298	RSPH1	PEX6	NHS	FLVCR1	TRIM37	NF1	RSPH9	GTF2I	PCYT1A	PROS1	COL4A1	NDUFAF1	UBE3B	ZMYND10	IFT88	CTSD	ALMS1	STAT3	ATP6V1E1	CNGB1	ERCC2	OTX2	CAV1	TELO2	SALL4	TACO1	IFT74	DALRD3	ARSG	IVNS1ABP	TARS1	MAN2C1	ADAMTSL4	PRSS56	HBG1	ATXN7	GABRG2	VSX1	ARL6IP6	CYP27A1	GRIN2D	PEX7	GTF2IRD2	LIMK1	ADAM9	PIGL	HHAT	RTL1	TMEM127	PDE6H	TMEM270	LPL	SMPD1	DHX38	HNF1A	GABBR2	INVS	ENG	ZNF513	PTCH1	REEP6	UBA5	UBAC2	ESPN	MT-ND4L	PTPN22	DRC1	FIBP	ACBD5	LRP2	IDH3A	SEMA3E	DPP6	YARS1	OPA1	EEF1A2	TEAD1	B9D2	RSPH3	B3GALNT2	BMP4	DNMT3A	MT-TK	NDUFS7	KRT71	APPL1	VCAN	PITPNM3	NSD2	HPS6	NDUFA13	P3H2	COX15	NTRK2	SMCHD1	ZEB2	GNPTAB	CDH23	DAG1	VPS33A	DSE	RCBTB1	HK1	MITF	RXYLT1	CACNA1A	RPS6KA3	GALC	CFAP221	KIF11	SHH	USH1G	GMPPB	SLC24A1	RNU7-1	KCNV2	MCOLN1	ABHD12	ABCC8	CEP164	LIG3	SDHA	C1QTNF5	FOXE3	CRPPA	GNA11	TEK	DLAT	EXOSC2	DHX16	GCK	PAK2	PRPF8	AHR	HID1	IL12B	CCM2	MLX	SF3B1	CLCC1	SALL1	CFI	NEUROD1	KRT74	NRL	SLC19A3	PDHA1	CEP78	SLC25A11	CTSA	EPAS1	C9	ADAMTSL1	GATA3	EFEMP1	OPN1SW	BAZ1B	PDZD7	CCDC28B	SLC35A2	SEC24C	SDHAF1	FBLN1	ELMO2	NDE1	ATP6V1A	MAPRE2	SLC13A5	KLRC4	CCDC103	LRRC32	TWNK	CCNO	PRR12	MYD88	PRDX1	TMEM237	TOPORS	CST3	SIM1	TSC2	DNAJB13	FAM161A	GCDH	PRDM5	KIF5A	NAA10	CDH3	TCTN2	IFT52	BCOR	CHST6	FGF13	XYLT1	TERT	STAT4	MT-TH	BLOC1S5	INS	COL9A1	FOXJ1	DGCR6	GTF2H5	JAG1	DPAGT1	ODAD2	ERAP1	IDH3B	BCL7B	HSD11B2	CREBBP	AP5Z1	RSPH4A	NEK10	TBX22	PPP3CA	ATXN2	SPEF2	PORCN	GABRB2	TRPM1	F12	PIGG	CHEK2	ATP1A2	MSTO1	TUBB4B	USP45	HLA-DRB1	TAF2	DUX4	DGCR2	TRIP13	LIPT1	ALDH6A1	DLK1	KLF11	TLCD3B	WASHC5	INSR	MEFV	SDHC	RPL10	SLC38A8	BUD23	WHRN	MT-ATP8	POU3F4	CLN5	SELENOI	HPS5	RELN	NOD2	CLTC	MIA3	CWC27	MICOS13	TMEM138	HMCN1	SBDS	MT-TN	MAF	CDK4	ERCC1	APOB	PPP2R3C	CFHR3	MT-ND3	BBS4	IDUA	JMJD1C	MYO7A	CYP1B1	AP3D1	IFT122	ZEB1	SAR1B	FBN2	CDK19	TLR4	CEP19	PRPF31	STK36	DPYD	KRAS	OAT	ASXL1	ADAR	NPHP3	FH	NDUFB8	TERF2IP	TINF2	TCTN1	RDH12	DNAH5	NDUFAF2	SPAG1	TUBGCP4	EDN3	FRG1	HLA-DPB1	GTF2E2	NDUFA10	IFT27	RIMS2	SCO2	MTTP	CLIP2	SRD5A3	TP53	RERE	DYNC2LI1	KCNJ13	FGFR2	GAS8	ADAMTS18	SLC24A5	PDCD10	RP1	POGZ	IGFBP7	SLC37A4	SLC12A6	FGFR1	CENPF	HKDC1	ODAD3	PSAP	B3GLCT	CA4	PRF1	COMT	GBA1	RMRP	PET100	BBS12	KIF3B	GNAQ	PAX2	FLCN	NPHP4	CBS	LAMB2	RAX	COL8A2	POLG	CEP83	HLA-DPA1	ZPR1	DNAAF6	NDUFS4	IFT80	NDUFAF5	ALG8	DACT1	DLST	TXN2	HNF4A	MPDZ	TXNDC15	TPP1	DNAAF4	CACNA1B	PRPF6	SOX2	DNM2	WFS1	GDF2	HPS4	GTF2IRD1	APOC2	PDE6D	SMAD4	SLC19A2	BCS1L	ARL13B	GZF1	ACTG1	ACTA2	CTLA4	ACD	ALPK1	MTFMT	WDPCP	CDKN2B	KRT25	IQSEC2	MYO6	DNMT3B	SZT2	GALNT3	RFC2	TBL2	COL9A3	ZNF469	NOTCH2NLC	ARMC9	PARS2	ISCA1	TFAP2A	NELFA	STX1A	DARS1	ESS2	MT-TE	NDUFS1	LRRC56	CIB2	MVK	DNAL1	UNC119	EDNRB	IL12A	MGMT	CLCN2	DNAAF3	CCDC40	DNAJC21	INTS1	AGXT	SERPINC1	NDUFAF6	CCR1	MT-CO2	FDXR	HADHB	MAB21L1	ECHS1	NUS1	SLC1A2	CA2	UFD1	SDHAF2
HP_RETINAL_COLOBOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_COLOBOMA	CEP290	FGF3	LRAT	MMACHC	MKS1	INPP5E	LCA5	RAB3GAP1	CLDN19	DHX38	RPE65	MAN2C1	CEP41	PUF60	CHD7	KIAA0586	CEP120	ALDH1A3	ZEB2	SALL2	RAB3GAP2	PAX2	HMX1	CRB1	B3GLCT	PRPS1	SALL4	INTS1	CASK	TFAP2A	C2CD3	PIGL	FIBP	SPATA7	AHI1	RAB18	NMNAT1	TBC1D20
HP_ABNORMAL_CORNEA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CORNEA_MORPHOLOGY	ARSB	VPS37D	RGR	CTCF	GJB2	IDH3A	HS2ST1	PRPF4	RPGRIP1	TEAD1	B9D2	BMP4	PITX2	TGFBI	NDUFB11	SETD2	SALL4	GNPTAB	FKRP	SLC7A14	PCARE	NSD2	AGBL5	EDEM3	COL7A1	ARSG	OSMR	GP1BB	DCN	FOXC1	SLC39A8	CRYAA	COL17A1	MBTPS2	ZEB2	WAC	ATP7B	DAG1	PALB2	DSE	HK1	CRB1	POLR3A	BRCA2	BEST1	ARL3	PRDM5	TRIP13	CHN1	GPR143	FGFR3	RP2	COL4A3	DNAI1	MAFB	ERCC8	FGF10	KIF11	SCUBE3	PPP2R5D	GNAS	IL6ST	GMPPB	FKBP6	FLII	NCAPG2	ATAD3A	LARGE1	HSPG2	POMGNT1	NMNAT1	BAP1	MAD2L2	NTRK1	SMARCAL1	KCNV2	EBF3	VSX1	COL4A1	MCOLN1	RAI1	WT1	RECQL4	COL4A5	POMGNT2	PIK3R1	BRIP1	POMT1	TGM1	IL12A-AS1	B3GALT6	NR2E3	FBN1	MAN2B1	FOXE3	LCA5	RAD21	HLCS	CLDN19	EXOSC2	IKBKG	ARL2	CAMTA1	NGLY1	TULP1	GUCY2D	SNRNP200	KDM6A	STXBP1	GJB3	SLC25A24	GALNT2	RIPK4	AGK	TCTN3	DDB2	COL3A1	SEMA4A	TACSTD2	PDE6A	MYO1H	ERCC2	TCF4	PNPLA1	UBE3B	ACTB	NRL	PIKFYVE	CDH11	CTSA	COL9A1	USH2A	FANCI	PYCR1	WNT3	AIRE	ANTXR1	PRMT7	TNPO2	TBX1	IDUA	COL11A1	PLXND1	MAPK8IP3	SPATA7	VAC14	POLR3GL	BAZ1B	CCDC28B	PAX2	GTF2E2	LRAT	FGFR2	ZMIZ1	SEC24C	XPR1	IMPDH1	FLI1	PRPF8	PEX16	CRX	EIF4H	APOA1	ZEB1	FKTN	GBA1	MAPRE2	ERCC6	ROBO3	DYRK1A	ABCA12	PAX6	RHOA	KLRC4	AHI1	ALOXE3	KIZ	PRR12	FBXW7	XPC	TOPORS	ELP1	PDE6B	CYP1B1	MED25	IFT140	COL5A1	APOA2	MAK	ERCC5	BUB1	FANCC	GRHL2	ANKRD55	P4HTM	RPGRIP1L	RNU4ATAC	BRD4	CERKL	PCYT1A	MT-TS2	SLC39A4	FAM161A	COL9A3	ATOH7	IL10	GUCA1B	OVOL2	TUB	NAA10	CC2D2A	RAB18	TCTN2	BCOR	CHST6	CRPPA	METTL27	SREBF1	MBD5	KMT2B	MAG	STAT4	FGF3	GLA	IL2RB	CTNS	HCCS	PRDM12	BUB1B	HMGB3	SHOC2	POLH	PRDX3	UROS	CHD4	CPLX1	PEX1	SLC4A11	FOXC2	PRPF3	RBP3	DGCR6	LZTR1	PDE6G	GTF2H5	JAG1	DPAGT1	EXOSC5	TBC1D20	ERAP1	CHMP1A	RAB23	PEX6	BCL7B	IFT172	NDP	ABCA4	CRYGC	MAPKAPK5	PEX19	HLA-B	NCF1	RAB3GAP2	CHRDL1	CYP4V2	COL8A2	RP9	IFNGR1	TBX22	KIDINS220	OFD1	TMEM216	ARCN1	NOTCH2	CRYGD	PEX13	PORCN	HRAS	CD247	WDR73	PROM1	EPHX2	KRAS	NAGA	TUBB	PIGG	SMG8	ERCC4	B9D1	GLB1	COL1A1	FGFR1	USP45	GSN	XRCC2	ASAH1	STS	CEP290	ERCC3	ELN	DGCR2	CNGA1	KMT2D	C1QBP	VSX2	LAMB3	ZNF469	JAM2	PEX11B	NLRP1	PERCC1	HIRA	PPP2CA	SLC29A3	AEBP1	C4A	PEX12	POMT2	ABCA1	B3GALNT2	NOG	PRCD	CREBBP	IL23R	ARVCF	MEFV	SLC38A8	NIPAL4	FGD1	SLC35C1	GNB5	FANCF	SETD5	BBS1	COL4A6	CARS1	BUD23	SETBP1	MKS1	ARL2BP	PEX2	NOD2	COL4A4	CHD3	GDF6	SAG	SH3PXD2B	RAB3GAP1	PPP1R12A	CLDN11	RNF113A	POMK	TBL1XR1	SIX6	CHST14	LIFR	LMBRD2	MMP1	FANCM	PTEN	FERMT1	OPN1MW	HGSNAT	KCNMA1	MAF	NRAS	CRYBB1	ANK1	IDS	CACNA1F	USP9X	RNF2	EMC1	CRYBB2	LAMA3	JMJD1C	GALNS	FANCE	FANCG	PEX26	SALL1	RPGR	AIPL1	BTNL2	AHR	CTBP1	TBCK	SC5D	RSPO2	GUSB	PIGN	PDZD8	FSCN2	WIPF1	AP3D1	IARS2	FANCB	POLA1	UBE2T	DEAF1	TKFC	FLNA	ALOX12B	MEGF8	TLR4	B4GAT1	PRPF31	DPYD	PLOD1	PITX3	IQCB1	COL18A1	DHCR7	TBC1D2B	EYS	PBX1	TBC1D7	CLRN1	SOS2	MMP2	AGBL1	GJA1	RREB1	KAT6A	PLK4	BBS2	REEP6	HMX1	SMC1A	EPCAM	KDM5B	TCTN1	MIR184	RDH12	CHUK	DDR2	YAP1	MLXIPL	PLCB3	GHR	DST	IMPG1	LOXL3	TP63	YY1	TGFB2	IKZF1	TEK	HDAC4	RAD51C	PIEZO2	TBCE	WAS	APC2	FOXL2	ZFHX4	PRPH2	NEU1	BBS9	RPE65	BLOC1S3	FANCA	AP1B1	TAT	TTC8	GATAD2B	APOB	SLC2A10	MTTP	CLIP2	NLRP3	FIG4	CTDP1	CRYBA4	DHDDS	RFWD3	FLG	LMNA	H1-4	MT-CYB	RXYLT1	PRKAR1B	LCAT	TWIST2	BUB3	EBP	RERE	TFAP2A	UROD	GLRB	KCNJ13	ADAMTS18	ARHGEF18	SLC20A2	MARK3	COLEC10	ARHGEF2	POGZ	KRT5	FBLN5	BRCA1	TMEM67	NSD1	LTBP2	DGCR8	MPLKIP	SCARF2	CENPF	REV3L	PEX5	LBR	ROM1	TBX15	KERA	LIPC	CA4	ZNF513	RP1L1	RLBP1	COMT	COL9A2	ANKRD11	KIFBP	FLNB	SCN9A	TYR	SLC4A4	UBIAD1	KLHL7	ALDH3A2	COX7B	PIGT	MAP3K7	TENM3	CEP78	ST14	MPV17	RNF125	PTPN22	CERS3	OCRL	GNAQ	MERTK	KRT12	ALDH18A1	PDGFRB	PRSS56	COL1A2	PCSK9	KRT14	VARS1	ABCG8	CNGA3	DACT1	COL25A1	RP1	TXNDC15	SLC16A12	MYORG	CLDN16	PRPF6	TMEM107	SCAPER	HDAC8	IMPG2	ARID1B	SUMF1	PEX3	RBP4	GTF2IRD1	OCLN	NHS	HLA-DRB1	IL2RA	PDGFB	ACTG1	TRPV3	PIGQ	KRT3	MAB21L2	KIAA1549	GRIA1	FKBP14	SPINT2	NEK2	LETM1	PLCG2	PSMB8	IQSEC2	LMX1B	SERPING1	GJA8	TMEM237	RD3	ARPC4	RFC2	FZD4	FANCD2	TBL2	NEUROD2	PTPN2	TRIM37	PACS2	GTF2I	TUBB4B	SLC25A4	CDHR1	TFE3	NELFA	ARL6	STX1A	CSPP1	DNAJC30	ESCO2	IFT88	ESS2	CEP57	COL5A2	NIPBL	CNGB1	OTX2	GNPTG	PLEC	HARS1	IL12A	RAX	XPA	RBM8A	GJB4	TARS1	CFAP418	SOX2	APOE	SMC3	PEX10	ZBTB7A	SF3B2	ASH1L	GATA1	ZMPSTE24	AKT1	DNAJC21	INTS1	ZNF408	TMEM231	GJB6	PPP1R17	FRAS1	CAMK2B	PEX14	OPN1LW	NR2F1	LAMC2	CCR1	SLX4	B3GLCT	KDSR	GTF2IRD2	LIMK1	FANCL	RHO	PIGL	LDLR	IDH3B	DHX38	TINF2	CRLF1	TMEM270	MAB21L1	OTUD5	LRP5	UBAC2	GORAB	CLTCL1	ADNP	NFIX	TRAPPC2	RAD51	PXDN	FIBP	UFD1	FAS	FUCA1	EP300
HP_MICROCORNEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROCORNEA	BRD4	BCOR	CSPP1	RAD21	ERCC3	KRAS	ARL2	EBP	CTCF	PITX2	TFAP2A	DEAF1	ATOH7	RPGRIP1	NIPBL	KDM6A	KMT2D	NAA10	TXNDC15	SLC16A12	ADAMTS18	B9D2	OTX2	RAB18	TCTN2	BMP4	RAB23	TCTN3	SALL4	TMEM107	DPYD	CRPPA	ERCC6	PLOD1	FKRP	PITX3	B3GALNT2	CRYBB1	HDAC8	FGF3	UBE3B	TARS1	TMEM67	TBC1D20	ACTB	MPLKIP	CRYAA	CENPF	TBL1XR1	SMC3	RBP4	NHS	ZEB2	PYCR1	GJA1	HMGB3	WNT3	TBX15	PLK4	POMK	CARS1	HMX1	SMC1A	MKS1	DAG1	COL4A1	GTF2H5	JAG1	TCTN1	HSPG2	MAF	MIR184	ACTG1	TMEM231	FKTN	CTDP1	MAB21L2	POMT1	PAX6	FANCB	GTF2E2	ERCC2	MAPRE2	RAB3GAP1	BEST1	NDP	RNF113A	CRYGC	B4GAT1	CHST14	CHN1	FKBP14	FLI1	CEP290	GJA8	RAB3GAP2	IQSEC2	POMT2	B3GLCT	B3GALT6	LMX1B	ERCC8	KIF11	TBX22	TENM3	TMEM237	ANK1	FLII	TMEM216	FZD4	CRYGD	LARGE1	FOXE3	FOXL2	PRR12	POMGNT1	CRYBB2	TUBB	RAI1	PRSS56	B9D1	MED25	RECQL4	POMGNT2	GORAB	CC2D2A	CRYBA4	PXDN	MAFB	RSPO2	RXYLT1	RPGRIP1L	SC5D
HP_ASTIGMATISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASTIGMATISM	PDZD8	AP3D1	FANCB	MT-TS2	ZEB1	COL9A3	UBE2T	CHST6	TEAD1	TUB	FLNA	CC2D2A	COL11A1	CLDN16	SETD2	DPYD	WAC	MBD5	KMT2B	AGBL5	EDEM3	MAG	ARSG	ARID1B	TBC1D2B	TCF4	PBX1	TBC1D7	CLRN1	SLC39A8	COL17A1	MBTPS2	ZEB2	COL9A1	SHOC2	KAT6A	GNPTAB	CHD4	KDM5B	GTF2H5	MIR184	PALB2	DPAGT1	DSE	PIGQ	EXOSC5	HK1	CHMP1A	SLC2A10	BRCA2	GRIA1	GPR143	LOXL3	YY1	MPLKIP	CHRDL1	KIF11	SCUBE3	PPP2R5D	SLC4A11	KIDINS220	OVOL2	DYRK1A	HDAC4	RAD51C	ARCN1	PIEZO2	TBCE	ARPC4	FANCD2	GTF2E2	APC2	ZFHX4	NEUROD2	TRIM37	PACS2	BBS9	BAP1	BLOC1S3	MAD2L2	FBN1	KCNV2	EBF3	VSX1	FANCA	FANCI	SMG8	GATAD2B	TFE3	BRIP1	TGFBI	RFWD3	XRCC2	H1-4	MAN2B1	PRKAR1B	ERCC3	CLDN19	KRAS	RERE	CAMTA1	NIPBL	GLRB	C1QBP	STXBP1	SLC25A24	GALNT2	CACNA1F	IFT172	HARS1	AEBP1	LMX1B	ARHGEF2	POGZ	MYO1H	NOG	BRCA1	UBE3B	ERCC4	ARL6	TARS1	NSD1	ZBTB7A	FANCF	SETD5	ASH1L	CARS1	SETBP1	DNAJC21	PRMT7	TNPO2	INTS1	COL4A1	MAPK8IP3	COL9A2	POLR3GL	CCDC28B	ANKRD11	PAX2	CHD3	ERCC2	PPP1R12A	TYR	ZMIZ1	CLDN11	RNF113A	PITX2	EMC1	CAMK2B	CHST14	LMBRD2	FANCM	SLX4	PIGT	FANCL	MAP3K7	USP9X	ROBO3	CEP78	RHOA	ALDH3A2	COL8A2	RNF2	FBXW7	OTUD5	FANCE	COL1A2	FANCG	BBS1	ADNP	NFIX	VARS1	RAD51	CNGA3	FIBP	COL25A1	FANCC	SMARCAL1	GRHL2	P4HTM	RNU4ATAC
HP_HYPEROPIC_ASTIGMATISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPEROPIC_ASTIGMATISM	ROBO3	GNPTAB	GPR143	CHST6	TBC1D2B	GATAD2B
HP_MEGALOCORNEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEGALOCORNEA	KIFBP	DNAJC30	BCL7B	SH3PXD2B	MLXIPL	VPS37D	POMK	PITX2	NCF1	LETM1	POMGNT1	FBN1	FKRP	FGFR2	COL11A1	EIF4H	CHRDL1	PPP2CA	GTF2IRD2	KCNMA1	FKTN	LIMK1	GMPPB	FKBP6	TEK	GNPTAB	METTL27	RFC2	POMT2	TBL2	TINF2	NSD2	TMEM270	POMT1	LTBP2	GTF2I	FGD1	CDH11	PIGG	GTF2IRD1	LARGE1	BUD23	CLIP2	PIK3R1	CPLX1	NELFA	CTBP1	MAF	STX1A	BAZ1B	MT-CYB	ELN
HP_RETINOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINOPATHY	NOD2	HNF4A	PHYH	KCNJ11	GCK	MT-TE	MT-ATP6	STAT3	IL10	IDS	SAR1B	PEX7	MYO5A	PRUNE1	HLA-B	CEP41	TLR4	IL12B	CDKN2A	TULP1	MLX	MT-TK	ABCC8	PDX1	KRAS	C4A	PANK2	MT-TL1	APPL1	ENPP1	IL12A	TERT	MTTP	TMEM231	NEUROD1	NSD2	CTNS	STAT4	MGMT	KLF11	AP5Z1	IL23R	NDUFS2	BCL11A	INSR	CSPP1	TMEM107	MEFV	FGFR1	NDUFB8	TERF2IP	INS	SURF1	PLK4	GNPTAB	HADHA	NDUFAF3	ERCC4	HBG1	CPLX1	PAX4	HBG2	COL11A1	AGXT	MFSD8	DPM1	BLM	CTLA4	ACD	ERAP1	MITF	HBB	TRIM32	MC1R	MIA3	BLK	CDKN2B	ERCC5	CREBBP	PRTN3	CDH3	CCR1	LETM1	ALDH3A2	ABCC6	CEL	IFNGR1	CDK4	HLA-DPB1	MAPRE2	ATG7	KLF1	KIF11	KLRC4	BAP1	NEU1	HNF1A	ERCC2	HLA-DPA1	IDUA	PTCH1	MCOLN1	TUBB	PIGG	UBAC2	POT1	TNFRSF11B	SCO2	APOE	PROS1	ALG8	PTPN22	ERCC3	NELFA	CTBP1	C1QTNF5	IL12A-AS1	TXN2	NDUFAF1	FAS
HP_DEEPLY_SET_EYE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEEPLY_SET_EYE	EIF5A	COX5A	ERCC6	MEF2C	PLP1	IARS2	ODC1	YARS1	GLYCTK	HS6ST2	CTCF	KCNK4	HECW2	DEAF1	ZBTB20	UGDH	COL3A1	CDKL5	FBN1	CASZ1	IPO8	MEG3	GPKOW	XRCC4	EXTL3	NDP	SALL4	SPEN	SSR4	WAC	PGAP1	STAG1	BRCC3	DPYSL5	SKI	SPOP	EDEM3	TRIM8	HSPG2	TCF4	GRIA3	TBL1XR1	ZEB2	PAK3	GNS	CAMTA1	ERCC4	KAT6A	PIK3CA	DYRK1A	AHDC1	CEP57	ERCC8	SUOX	PIK3R1	POC1A	TMEM94	LARP7	RAI1	TAF1	JAG1	TMEM67	STIM1	MED12L	CREBBP	POLR3A	EEF1A2	RARS2	MEIS2	SATB2	ERCC2	CHN1	PAK1	MYH3	PSMD12	CRKL	FBXO31	FBXO11	IQSEC2	AGO2	SRC	ZC4H2	TBCD	BBS7	RERE	PRDM16	SMC1A	LUZP1	KNSTRN	SH3PXD2B	PRPS1	GRIN1	TCF20	PIK3CD	KIDINS220	HYLS1	FLII	NALCN	SMAD4	PIEZO2	ATAD3A	ASXL3	TBCE	ABL1	DPH5	KDM5C	UBE2A	HACE1	UBE3A	PUS7	BAP1	OPHN1	PDPN	HDAC8	ATN1	EBF3	FARSA	KIF7	SETD1A	KCNAB2	GATAD2B	POU1F1	POU4F1	RALGAPA1	TPRKB	PRKDC	CDH2	THOC6	BICRA	CTBP1	MAPK1	TRRAP	AGL	MAFB	RAB3GAP2	CRPPA	FIBP	SYNGAP1	SLC9A7	ALMS1	EXOSC2	GATA4	SPTBN1	TRIP13	FOXF1	ALKBH8	BCR	KMT2E	NOVA2	SNRPN	GABRD	OSGEP	SRCAP	PDCD6IP	LAS1L	DPYD	PRMT7	GNB2	IGF1R	HDAC4	TTI2	H4C5	HMGA2	GSC	PRKCZ	CACNA1G	TOGARAM1	DLK1	FARSB	H3-3A	TBC1D20	SLC9A6	PYCR1	PUF60	CENPF	AP1S2	DNM1L	PIGY	ASH1L	TAFAZZIN	SETBP1	COL5A1	MMP23B	MAPK8IP3	KMT2B	BPTF	ERCC1	PHF6	EP300	SON	GJA5	WASF1	GJA1	EMC1	CAMK2B	LIFR	GORAB	STAT3	TMEM237	NTRK1	UBE4B	SHANK3	TTC26	NAA10	ORAI1	LEMD3	HUWE1	CRB1	MSL3	ANKRD17	DHPS	EPB41L1	HHAT	RTL1	TBCK	GJA8	NF1	DCPS	PPP2R5D	COX8A	TBX15	PIGU	CARS1	OCRL	RNF2	PRR12	RAB3GAP1	COA3	SLC35A1	SIN3A	ZPR1	DIS3L2	SEPTIN9	CILK1	NGF	NFIX	ARNT2	PLEC	CNOT3	FMR1
HP_KERATITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KERATITIS	NOD2	ERCC3	WIPF1	HLCS	IARS2	SREBF1	IKBKG	PAX6	GJB2	IL10	UROD	ERCC2	PERCC1	HLA-B	ALOX12B	TLR4	DDB2	PLEC	AEBP1	ERCC6	C4A	IL12A	XPA	STAT4	PNPLA1	IL23R	TARS1	MEFV	MPLKIP	NIPAL4	SLC35C1	NLRP1	COL17A1	MBTPS2	HLA-DRB1	LBR	POLH	FGFR2	COL4A6	GATA1	CARS1	UROS	EPCAM	GTF2H5	ERAP1	GJB6	FBN1	SCN9A	ERCC4	RNF113A	TP63	CCR1	FGFR3	ERCC8	FGF10	IFNGR1	IL6ST	ABCA12	RNF125	KLRC4	XPC	AIRE	WAS	GTF2E2	ALOXE3	CERS3	CRLF1	NTRK1	MAB21L1	UBAC2	MTTP	COL4A5	CLTCL1	NLRP3	ZEB1	BTNL2	GSN	TGM1	IL12A-AS1	ERCC5	FAS
HP_ABNORMAL_EYELID_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EYELID_MORPHOLOGY	GABRA3	ODC1	VPS37D	LRP4	TMCO1	BMP1	HS6ST2	IL11RA	CTCF	GJB2	HS2ST1	IFT43	CPLANE1	TGM1	GNE	ZNF699	GABRA5	RNASEH2C	FAT4	SMARCB1	RNU4ATAC	NDUFB11	PTPN11	PRKAR1A	PGAP1	FZD2	DPYSL5	OCA2	MEGF8	CTNND1	SPOP	SETD2	SEC24D	GP1BB	ADH5	ADA2	MED13	CHD1	KCNN3	NOP10	TAPT1	ITGA6	ANKRD11	WAC	RPS6KA3	CAMKMT	LARP7	HNRNPR	ARID1B	ZNF407	FGF20	SLC3A1	RNASEH2B	ANKLE2	KRAS	RPS29	NRCAM	POLR3A	MITF	LZTR1	TOPORS	BRCA2	LMNB1	DHODH	DVL1	HSD17B4	RPL35A	CHN1	PIGN	LIPH	RUSC2	YWHAG	RPL26	TCF20	APC	PTH1R	C12orf57	FKBP6	FLII	NCAPG2	ATAD3A	KATNB1	TUBGCP2	KMT2A	ABHD5	HSPG2	KDM5C	IGBP1	MSMO1	PEX3	COG1	BAP1	BRPF1	CHD8	ATN1	DDHD2	CHD7	RAI1	ATP6V1A	NEK9	IRF6	POU4F1	RECQL4	PLCD1	CLP1	MPC1	TPRKB	PIK3R1	CDH2	TRRAP	GABRA2	MAFB	FLT4	SETD1B	SNAI2	LIPN	WT1	PPP1CB	FGFR1	SOX10	PCGF2	MYCN	CAMTA1	DLG3	CUL4B	ERMARD	EZH2	KDM6A	GABRD	VAMP1	STXBP1	KLF13	SLC25A24	GALNT2	KCTD1	SCN3A	NBN	IGF1R	HDAC4	MEIS2	CHAMP1	DDB2	GSC	TCOF1	PAFAH1B1	KMT2D	FOXG1	FRMD4A	SYT1	ERCC2	TCF4	UBE3B	HIC1	CBL	APCDD1	EFTUD2	ACTB	ABCA12	WNT5A	ALX3	GPC3	KIF15	CCDC32	PAH	SRCAP	PURA	WDR37	TBX1	CTU2	PLXND1	POLR1B	HCN1	POLR3GL	ASXL1	CCDC22	DVL3	NDST1	TRAF7	WASF1	NOTCH2	EP300	PHF6	MOGS	MAN2B1	FLI1	ETFDH	PGAP3	EIF4H	SHANK3	STAG2	CKAP2L	CD28	TTC8	MCTP2	SOX6	TMEM53	NXN	PIGO	SOX11	UNC80	BRAF	FAS	COQ4	MRPS2	IFT74	ARV1	SPART	MASP1	CEP290	MAGEL2	XPC	AFF2	APOE	TRIO	PITX2	MED25	FZR1	SYNJ1	BCORL1	FDFT1	TRAPPC9	ASPRV1	PHIP	CNOT3	VPS35L	GRIP1	NEK1	HBA1	KAT5	SCN8A	POLRMT	COL9A3	SHOC2	NF1	DOK7	MKRN3	NECAP1	MYMK	KMT5B	MAP3K7	TRAPPC10	MEG3	RYR1	GPKOW	FGFR2	CTBP1	MTSS2	AMMECR1	RRAS2	METTL27	ATP1A3	SYNGAP1	SATB1	TCTN3	INPPL1	NDUFS4	HR	GREB1L	TONSL	SMOC1	COL1A2	H4C3	EDA	MYOD1	BUB1B	NARS1	UROS	FGF12	GLIS3	CPLX1	PEX1	FOXC2	CLCN4	PMM2	SNX14	GRIA3	OTUD6B	SIX2	HIBCH	CHMP1A	FLNA	SLC6A17	SOX18	STEEP1	TRAIP	RPL21	GON7	HLA-B	NCF1	SLC19A3	MYH3	SUZ12	FBXO31	PTCH2	EFEMP2	PPP1R15B	SLC6A9	RERE	PIGV	SDCCAG8	EDNRB	SMAD4	ARCN1	RAC1	WDR19	KDM1A	LSS	KAT6B	PEX13	HRAS	SMARCC2	NECTIN1	MUSK	EPHX2	HDAC8	FBN1	PIK3R2	FANCI	MLXIPL	TUBGCP6	TOE1	BPTF	HERC2	UGP2	TSPEAR	PHGDH	THOC6	MAPK1	CEP55	PQBP1	TP63	MYO5A	CENPE	TIMM50	SKI	ROR2	ITGB4	HNRNPK	FIBP	ERCC3	GATA4	ATRX	KCNA2	TBX6	NOVA2	ADAM17	SNRPN	TRIM32	RNASEH2A	VPS53	PEX11B	KPTN	HIRA	PPP2CA	RPS19	EDAR	SETD5	TAF6	PPP2R1A	ADAT3	KCNH1	NUP85	EGFR	BRCA1	CEP152	ARVCF	MRPL12	ALG2	NIPAL4	ALX1	KCNJ8	FANCF	CARS1	TRMT1	TYRP1	PITX1	GJB6	WWOX	CERT1	NEXMIF	PEX2	KMT2B	TYMS	KCNB1	DPM1	BANF1	PARS2	OGDHL	MAP2K1	GNPTAB	CHD3	SH3PXD2B	SEMA5A	PPP1R12A	RNF113A	LIFR	P4HB	UBE2A	FANCM	NSD1	KIF21A	PTEN	ZBTB18	UBE4B	FERMT1	PIGW	PIGA	KCNMA1	HPDL	ANKRD17	RPS17	CASK	ATP6V0A2	SH3BP2	ANK1	NAA10	DPF2	SAMHD1	ARPC1B	NECTIN4	PPP2R5D	KRT83	COL3A1	PIGU	LPAR6	USP9X	RNF2	CYFIP2	PDE11A	B3GAT3	FANCE	IGLL1	GAD1	EFNB1	FAM149B1	CHST14	RIPK4	GFRA1	COL5A1	SC5D	GTF2H5	COX5A	WDR4	WIPF1	MEF2C	MECP2	FANCB	NSD2	SASS6	DEAF1	DNM1	NHP2	UGDH	RBMX	GPT2	CASZ1	CACNA2D1	KIAA0753	ALOX12B	IPO8	IDH1	DYNC2I1	WASHC5	RPS24	IFT140	COL11A2	PDHX	COL18A1	SPECC1L	ARL3	TBC1D2B	RPS27	DSG4	NPHP1	LONP1	BBS5	GLI3	TBL1XR1	GJA1	RREB1	PARN	ALG3	BMP2	ACTL6B	EDARADD	TAF1	RIT1	MED12L	CDCA7	DDR2	DYNC2H1	ASXL2	CHRNG	B9D2	SNRPE	NSUN2	AP1G1	YY1	RALA	POU3F3	AGO2	PRDM16	LAMA3	TGFB2	KNSTRN	COLEC11	C2CD3	IKZF1	MAN1B1	RAD51C	PIEZO2	PCNT	POLR1A	WAS	KAT6A	SKIC3	FOXL2	RTL1	GJC2	ETFB	CENPJ	FOXP1	NPM1	FANCA	ATR	MED13L	PDE4D	EPS8L3	APOB	SLC2A10	XRCC4	NCAPD3	ZC4H2	ZNHIT3	MID1	NUAK2	CIT	LMNA	ZNF148	NSDHL	PAX3	ZIC2	BBS2	TAF13	SOX9	SLC9A7	KDM4B	SPTBN1	EXT2	KIF7	KMT2E	PWRN1	RTTN	WRAP53	PWAR1	ZMYND11	GMNN	ARHGEF2	PNPLA6	SPRED2	OFD1	CNOT2	EXOC2	CSGALNACT1	DGCR8	KRT85	DNMT3A	MPLKIP	CDK6	PEX5	UQCC2	ADARB1	NFIB	CDK13	AARS1	MMP23B	TRAK1	FLNB	BLM	AFF4	ELN	ERCC1	FTSJ1	HBB	AKT1	POLA1	PSAT1	LPL	IFT57	MC1R	RIC1	PHF8	HRURF	CHRNA7	PIGT	RDH11	ALX4	CLDN1	AP1S1	ERCC4	EDN3	TENM3	FREM2	G6PC1	HBA2	RNF125	EXOSC1	RBBP8	TLK2	OCRL	SMARCA2	AUTS2	PLPBP	CELF2	KANK2	PUF60	CNTNAP1	PCSK9	GPR101	CILK1	RPS7	NFIX	ABCG8	CCNQ	ANTXR1	RSPRY1	COL25A1	EIF5A	C12orf4	CLCN3	CTLA4	AFF3	COL5A2	SOX5	MYMX	MBTPS2	HIVEP2	CCBE1	BBS10	MCM7	RNU12	TNRC6B	FBLN5	SPEN	TNFRSF1B	DSC3	AP3B2	PREPL	CNKSR2	MTOR	COX7B	LZTFL1	THUMPD1	GATA2	H4C9	WDR35	CEP57	EBP	TINF2	UBE3A	TRPS1	RPL15	FGFR3	PRPS1	RPL11	RTEL1	ECEL1	DSP	KITLG	PLOD1	CDC42	CTDP1	EEF1A2	MAB21L2	SEC31A	BCL11A	NOTCH3	VPS13B	SLC38A3	GRIA1	GTPBP2	NGLY1	LETM1	CANT1	DHCR7	FBXO11	RAB11B	TBCD	LUZP1	PIK3CD	TXNL4A	EED	MKS1	COG8	RPS10	PYCR2	GATA1	PACS2	KRT10	DOCK7	TUBB3	PLK4	GTF2I	HELLS	DOLK	PIK3C2A	ZMYM2	WNT10A	RNF135	HHAT	CDH11	CSNK2A1	ZNF292	CDC42BPB	BCR	ATP6V1E1	PTCH1	KAT8	LIG4	RAB23	TELO2	COLEC10	SALL4	RIN2	CACNA1G	LMX1B	DALRD3	RAC3	FGF3	XPA	B4GALT7	MADD	TARS1	ALDOA	IFT52	CHST3	ALG14	SUFU	ATP6V1B2	TYR	SHROOM4	GABRG2	LRRC8A	HNRNPH2	IRX5	PKDCC	ARID2	ABAT	PPP1R17	STT3A	DYNC2LI1	SON	PEX14	PALB2	CYP27A1	GRIN2D	B3GLCT	GTF2IRD2	LIMK1	MSL3	KRT71	IFIH1	PIGL	CRIPT	SIM1	SCNM1	TMEM270	YWHAE	KANSL1	CHRNA1	METTL5	GABBR2	SIN3A	TBR1	UBA5	KRT81	ZMPSTE24	SEPTIN9	CD79A	AMPD2	LRP2	FGF5	MN1	SEMA3E	YARS1	HECW2	ZBTB20	GPC4	ZIC1	ETFA	PIGY	ASXL3	TGFBI	TERT	ADAMTS3	FRAS1	EHMT1	CAMK2A	SPATA5L1	EDEM3	CCDC115	VPS51	TSR2	ALOXE3	RPS28	NTRK2	SMCHD1	ZEB2	AXIN2	RBM10	FANCC	VPS33A	HOXB1	KCNJ2	TRAPPC14	DSE	HK1	TWIST2	CREBBP	TNNI2	CACNA1A	TRIP13	PIEZO1	GLE1	DPH1	COL1A1	KIF11	MACF1	CLTC	FREM1	DPH5	SULT2B1	TTPA	CSPP1	ARID1A	ZNF526	MAD2L2	SLC37A4	SLC39A13	EBF3	KIF1A	BCAS3	SLC30A9	PRDM13	MINPP1	BRIP1	SUPT16H	MAP1B	USB1	DHCR24	TMEM107	PEX6	NDN	SDR9C7	CERS3	SATB2	MAP2K2	IL1RAPL1	SRY	STAC3	SPRED1	RAD21	EXOSC2	DHX16	SNORD115-1	PIGB	PPM1B	MAF	DHX30	PAK2	RET	ZBTB24	POLR1C	ADNP	NBAS	HID1	UBR7	ABCC9	POLR1D	MARS1	PLEC	PNPLA1	ALDH1A3	RB1	LSM11	UMPS	PRMT7	MAPK8IP3	MCPH1	TRMT10A	COG7	VAC14	BAZ1B	RPS15A	SLC35A2	IFT122	ZMIZ1	NRAS	SEC24C	RPS23	MICU1	PEX16	PGM3	H4C11	APOA1	MFSD2A	GBA1	SMC1A	MAPRE2	SLC13A5	ERCC6	PUS1	RHOA	ANKH	GJA8	PSPH	ZNF462	SCAPER	PRR12	LDHD	HNRNPH1	FLCN	ACSL4	CEP63	APOA2	RAF1	ERCC5	BUB1	AMER1	ATP7A	BRD4	MGAT2	KCNK4	SLC39A4	GPRASP2	CENPT	BGN	QRICH1	EDNRA	KCNJ5	CDH3	RAB18	NANS	CSF1R	FGF13	SREBF1	MBD5	STAG1	XYLT1	PHF21A	FGFRL1	DHDDS	HCCS	ABCA5	PAK3	AHDC1	MRAS	BCL11B	IFT80	SMPD4	CHD4	DGCR6	FANCL	JAG1	AP3B1	WNT7A	BCL7B	LMBRD1	PPP1R21	MAPKAPK5	PEX19	CFAP418	DOCK3	FAM20C	PEX7	BBS1	CRKL	DLX4	SLC45A1	CDH1	TBX22	PPP3CA	COL11A1	MED27	TGFB3	WDR73	SOS1	COPB2	GABRB2	DKC1	TUBB	BMPER	PIGG	DONSON	CCDC88A	ATP1A2	DOCK6	DDX11	BICRA	CHD5	RPL18	STRA6	GSN	XRCC2	RPL31	HEATR3	TBC1D24	TBX2	DUX4	DGCR2	OSGEP	ZNF469	BMPR1A	SLC29A3	AP4E1	PTPN22	KIT	TFAP2B	PRKCZ	PEX12	CAMK2G	ALDH6A1	ABCA1	SOX4	NOG	NSRP1	MKKS	FOXC1	DLK1	H3-3A	KRT74	FOCAD	SF3B4	RPL10	ORC1	FGD1	SLC35C1	DCHS1	BUD23	SETBP1	CD79B	KRT25	PGAP2	SNAP29	CST6	NUP188	RPS20	CWC27	GJA5	LMBRD2	BCOR	CCND2	TTC26	PYCR1	DYNC1I2	PPP2R3C	TMEM216	TBCK	ALG9	ADAR	ARX	EXOC8	TBX15	COA3	JMJD1C	ORC6	FANCG	ANAPC1	PEX26	SALL1	NONO	PCLO	BBIP1	SZT2	STIL	FBXL4	UBE2T	HNRNPU	PHC1	CDK19	TCF3	FBXO28	CEP19	SMARCE1	DPYD	MVK	TRAF3IP2	SMARCA4	KIF14	SOS2	MED12	NALCN	RRAS	NCDN	DNMT3B	SLC26A2	KDM5B	CD96	PHOX2B	YARS2	CHUK	MTX2	IGHM	KMT2C	GHR	MLPH	PSMD12	SMO	QARS1	PACS1	KIAA0586	CTC1	GTF2E2	APC2	ZFHX4	ADAMTS2	PDPN	SCN4A	SETD1A	PRRX1	GATAD2B	CLIP2	FIG4	FRG1	GPC6	RFWD3	ACTG1	SMARCD1	H1-4	PDE6D	SVBP	PRKAR1B	CCNK	BUB3	TMEM147	TFAP2A	BLNK	UROD	NAA20	CNOT1	ADAMTS18	GNB2	TUBGCP4	KRT86	ALG12	TASP1	RAPSN	KCNK9	INPP5E	CDK10	SMS	SCARF2	REV3L	DDB1	LTBP1	AKT3	WNT9B	CDK5RAP2	SPINK5	COMT	PDGFRB	RMRP	XPNPEP2	KIFBP	PBX1	ASPM	IFT27	ATRIP	HUWE1	ZSWIM6	SET	ST14	CEP135	RLIM	AHI1	BBS4	ZPR1	KCNE5	SNRPB	POGZ	TBX4	VARS1	DACT1	VDR	TERC	CYP4F22	ITGA3	MPDZ	CTNND2	DDX59	RPS26	CACNA1B	FANCD2	BBS12	RNU7-1	RHOBTB2	HOXC13	CLCN7	AIP	GTF2IRD1	TENT5A	KREMEN1	MYL11	TWIST1	POLH	PIGQ	CHRND	RBPJ	DMXL2	WDPCP	RPL27	TRIP12	CNTNAP2	LRP1	KNL1	IQSEC2	BRF1	SLX4	DYRK1A	RFC2	BRAT1	DDX6	TBL2	PKP1	PUS7	BLTP1	ACOX1	FHL1	DYNC2I2	KCNAB2	TFE3	SIAH1	TREX1	ALDH1A2	WDR62	NELFA	KDM6B	EPG5	PRORP	ADAMTSL2	STX1A	RPL5	EXOSC9	SLC17A5	LTBP3	DNAJC30	NPAP1	ESCO2	JUP	FKBP14	ESS2	ASPH	NIPBL	DYNC1H1	NR2F1	DENND5A	PCDHGC4	H4C5	SNORD116-1	RAX	TOR1A	GDF11	SMC3	PEX10	EIF2AK3	PRIM1	SF3B2	COG6	HERC1	ARL6	IL6ST	DNAJC21	INTS1	RASA2	RAB3GAP2	PIK3CA	IFT172	TMEM237	BBS7	BBS9	LDLR	COPB1	ITGA8	RPL35	CARD14	MAB21L1	OTUD5	NUS1	DIS3L2	SLC1A2	CLTCL1	RAD51	UFD1
HP_ABNORMAL_FOVEAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FOVEAL_MORPHOLOGY	PDE6C	PAX6	TYR	AP3D1	PRPH2	IKBKG	IMPG1	PROM1	HMCN1	MC1R	OCA2	IDS	PDE6G	ABCA4	APOE	GNAT2	GDF3	MFRP	CACNA1F	GPR143	ELOVL4	MTSS2	SLC24A5	GDF6	CFHR3	OAT	RPE65	RAB28	PDE6H	HPS6	LRP5	ATF6	CTNNA1	PRR12	BLOC1S3	TLCD3B	BLOC1S5	SLC38A8	OFD1	HPS4	RHO	RBP4	WT1	RLBP1	RDH5	UGP2	DCT	CNGB3	RPGR	FZD4	NEU1	CNGA3	HPS5	CFAP418	CFHR1	SLC45A2
HP_DOWNSLANTED_PALPEBRAL_FISSURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DOWNSLANTED_PALPEBRAL_FISSURES	AMPD2	LRP2	BBIP1	MN1	CHRNG	SZT2	KAT6B	ODC1	LRP4	TMCO1	FBXL4	HS6ST2	IL11RA	EEF1A2	DNM1	ZBTB20	FGFR2	GPC4	RIT1	FBN1	GABRA5	FLNA	CACNA2D1	EP300	ZIC1	CDK19	PURA	IDH1	RNU4ATAC	ASXL3	WASHC5	CEP19	PTPN11	KRAS	SETD2	DPYD	CAMK2A	MVK	FZD2	DPYSL5	SPATA5L1	COL11A2	SPOP	ATP6V1A	NSD2	EDEM3	CCDC115	SPECC1L	TSR2	DHCR7	SEC24D	GLI3	ATP6V0A2	NPHP1	GP1BB	CHD1	BBS5	SOS2	NTRK2	WAC	RPS6KA3	ZMPSTE24	MED12	RREB1	NALCN	RRAS	PCNT	SKI	BMP2	UNC80	ACTL6B	TAF1	IGBP1	KDM5B	PHOX2B	DPM1	DSE	MED12L	CREBBP	LZTR1	GJA1	ZEB2	TNNI2	CACNA1A	DHODH	DVL1	TRIP13	GLE1	DPH1	YWHAG	PSMD12	YY1	RIN2	KIF11	TBX1	TGFB2	SH3PXD2B	PPP2R5D	PACS1	APC	COLEC11	MAN1B1	HRAS	SKIC3	APC2	PEX3	COG1	BAP1	POLR3A	TRIO	ADAMTS2	BRPF1	CHD8	CDC42	CHD7	FOXP1	SLC39A13	EBF3	ATR	NEK9	SETD1A	PRRX1	ALG2	SUPT16H	CDH2	DHCR24	SPEN	GABRA2	DPF2	MID1	SETD1B	ROR2	ZNF148	SATB2	MAP2K2	PPP1CB	SC5D	STAC3	BBS2	SLC9A7	AMMECR1	BUB3	EBP	TMEM147	CSGALNACT1	CAMTA1	MAF	CUL4B	KIF7	EZH2	DHX30	KMT2E	NAA20	POLR1C	NRAS	ADNP	FGFR3	GALNT2	SCN3A	BRAF	UBR7	POLR1D	HNRNPK	GSC	TCOF1	PAX3	GMNN	ATP6V1B2	FOXG1	ARHGEF2	SPRED2	CWC27	OFD1	TASP1	RAPSN	CBL	EFTUD2	NOTCH3	ACTB	CDK10	NSD1	WNT5A	RAF1	CDH11	GPC3	LTBP1	KIF15	NFIB	UMPS	COL5A1	AARS1	MGAT2	VPS13B	TRAK1	POLR1A	TRMT10A	POLR1B	HCN1	COMT	PDGFRB	BPTF	AFF4	CCDC22	AKT1	KIFBP	ZMIZ1	SEC24C	NOTCH2	IFT27	ATRIP	FLI1	SON	CHRNA7	MYH3	NAA10	CKAP2L	HUWE1	MAP3K7	TTC8	SMC1A	ZSWIM6	C12orf57	SLC13A5	SET	HBA2	NXN	SLC29A3	RBBP8	RLIM	ZNF462	SMARCA2	SCAPER	PRR12	LDHD	ARV1	BBS4	SPART	AUTS2	NONO	CEP290	CELF2	KCNN3	KCNE5	HNRNPH1	FLCN	ACSL4	MED25	POGZ	FZR1	SYNJ1	BCORL1	SOS1	NFIX	BUB1	ATP7A	CEP152	VPS35L	EIF5A	HBA1	KAT5	CLCN3	SCN8A	COL9A3	CENPT	BGN	DOK7	SOX5	MYMX	MPDZ	CTNND2	LMNA	DDX59	NECAP1	MYMK	CACNA1B	FGD1	BBS10	BBS12	TNRC6B	FGF13	RRAS2	ATP1A3	DVL3	SYNGAP1	SATB1	AP3B2	CNKSR2	ARID1B	MTOR	COL11A1	LZTFL1	DHDDS	THUMPD1	SMOC1	EFNB1	MYOD1	H4C9	ABCA5	SPRED1	BUB1B	SHOC2	AHDC1	KDM1A	MRAS	CEP57	SMPD4	FGF12	CPLX1	UBE3A	CLCN4	PRPS1	OTUD6B	FGFR1	MAPK1	ACTG1	TWIST1	PLOD1	DMXL2	SLC2A10	MAPRE2	WDPCP	BCL11A	TRAIP	CNTNAP2	SLC38A3	CFAP418	MASP1	DOCK3	SLC19A3	FAM20C	LETM1	SUZ12	BBS1	FBXO31	FBXO11	PPP1R15B	NF1	RERE	SLC45A1	SIN3A	PPP3CA	SDCCAG8	ARCN1	EED	MKS1	PYCR2	EFEMP2	RECQL4	TGFB3	PACS2	PUS7	NECTIN1	TUBB3	GABRB2	FHL1	PIGG	ATP1A2	TFE3	PARS2	SIAH1	ZMYM2	ALDH1A2	TSPEAR	BICRA	RNF135	NELFA	KCNA2	CENPE	CENPJ	HEATR3	KPTN	FIBP	ESCO2	GATA4	CDC42BPB	ASPH	NOVA2	ATP6V1E1	OSGEP	DYNC1H1	TRIM32	BMPR1A	YWHAE	TWIST2	HIRA	RPS19	AP4E1	COLEC10	H4C5	TFAP2B	SETD5	IFT74	DALRD3	ALDH6A1	FGF3	KCNH1	NSRP1	MKKS	NUP85	H3-3A	PPP2R1A	ARVCF	SF3B4	PTEN	CHST3	RDH11	RAI1	PAFAH1B1	HERC1	ARL6	IL6ST	SETBP1	PITX1	DNAJC21	WWOX	SNAP29	RASA2	NEXMIF	SLC25A24	GABRG2	KCNB1	CLTC	OGDHL	MAP2K1	PKDCC	RAB3GAP2	ABAT	SEMA5A	DYNC2LI1	PIK3CA	CHST14	P4HB	IFT172	TMEM237	GRIN2D	ANKRD11	BBS7	PYCR1	PLK4	KCNMA1	MSL3	USP9X	CASK	BBS9	SCNM1	GABBR2	CYFIP2	JMJD1C	PTCH1	TBR1	OTUD5	B3GAT3	UBA5	GAD1	ORC6	NUS1	RYR1	SLC1A2	RPS28	CTBP1	UFD1	ARID2	KMT2A
HP_RECURRENT_CORNEAL_EROSIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_CORNEAL_EROSIONS	MBTPS2	FGF10	ELP1	FOXC2	TGFBI	NTRK1	GJB2	CHST6	MPV17	FGFR3	COL17A1	FGFR2	KRT3	CTNS
HP_BLEPHARITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLEPHARITIS	BRD4	RAD21	WIPF1	ERCC4	ADAM17	TP63	SLC39A4	UROD	MBTPS2	NIPBL	WRAP53	TERT	DDB2	ST14	SREBF1	USB1	ARPC1B	XPC	CTC1	WAS	XPA	ERCC2	HDAC8	MSMO1	TRAF3IP2	DKC1	NPM1	NHP2	GJB2	GJB6	REV3L	SMC3	NOP10	PARN	APOE	GATA1	PLCD1	UROS	TINF2	PIGN	SMC1A	EGFR	TBX4	PLXND1	CST6	ERCC5	RTEL1	ERCC3	TYMS	TERC
HP_ABNORMAL_EYELASH_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EYELASH_MORPHOLOGY	BRD4	FGF5	COX5A	MGAT2	PNPLA6	ODC1	ITGA3	BMP1	EDNRB	CTCF	KCNK4	GJB2	ALX1	NHP2	COL3A1	EDNRA	EDAR	ZNF699	LMNA	EP300	CDH3	POLR1C	PAX3	MITF	SMARCB1	RNU4ATAC	CSF1R	TERT	NDUFB11	KRAS	RNU12	SMARCE1	DPYD	KDM6A	CDH1	HOXC13	DVL3	MBD5	FZD2	STAG1	DSC3	XYLT1	OCA2	CTNND1	SPOP	FBN1	VPS51	HDAC8	PREPL	TSR2	DHCR7	ARID1B	HR	DSG4	COX7B	WNT5A	TWIST2	SMARCA4	GJB6	KCNN3	HCCS	NOP10	EDA	TENT5A	SMCHD1	MBTPS2	AFF4	RECQL4	KREMEN1	ZMPSTE24	PARN	SHOC2	AXIN2	SMARCA2	EBP	TP63	RMRP	UROS	CAMKMT	TINF2	FOXC2	SMC1A	TRPS1	EDARADD	TAF1	TYMS	VPS33A	OTUD6B	HSPG2	MAP2K2	RTEL1	YARS2	DSP	SNAI2	MTX2	CHMP1A	CREBBP	NRCAM	CTDP1	MAB21L2	SOX18	SLC3A1	GJA1	SEC31A	ASXL2	LMNB1	RPL21	DVL1	VPS13B	LRP1	GTPBP2	LIPH	SNRPE	MLPH	RUSC2	DPH1	CANT1	FBXO11	EDN3	NECTIN1	TCOF1	SLC6A9	DLX4	EPS8L3	STAG2	PACS1	DNMT3B	MAN1B1	KIF11	ASXL3	COL11A1	MED27	USB1	KMT2A	CTC1	LSS	DPH5	TMCO1	ZFHX4	ARID1A	PKP1	SMARCC2	APCDD1	POLR3A	PLK4	NPM1	KCNH1	DKC1	CLP1	DOLK	TUBGCP6	SLC30A9	PLCD1	WNT10A	FIG4	PHGDH	MOGS	BICRA	SPEN	FRG1	MYO5A	SMARCD1	MAF	ROR2	LPAR6	TIMM50	SATB2	LTBP3	RAD21	SOX10	JUP	PUS1	DUX4	CDC42BPB	CAMTA1	PPM1B	NIPBL	UROD	KMT2D	RIPK4	DENND5A	NF1	GNB2	HID1	WRAP53	ABCC9	H4C5	POLR1D	PTPN22	KIT	DOCK7	TUBGCP4	BRAF	ATP6V1B2	KRT86	ARHGEF2	SOX11	FRMD4A	TAF6	SOX4	RAC3	CWC27	B4GALT7	CNOT2	EGFR	BRCA1	AP3B2	MADD	CSGALNACT1	KCNK9	KRT74	ANAPC1	KRT85	FGFR1	PUF60	SF3B4	MPLKIP	ORC1	DDB1	SMC3	SLC35C1	KCNJ8	LTBP1	GATA1	POLR1B	TYRP1	KRT25	ANTXR1	CST6	SPINK5	BLM	VAC14	IRX5	NOTCH2	BANF1	ARID2	FRAS1	RPS23	GJA5	CLDN1	MC1R	HRURF	SHANK3	NAA10	ALX4	HPDL	KRT71	ST14	DPF2	NXN	SLC25A24	GJA8	WDR35	NECTIN4	EXOC8	KRT83	FAS	SRCAP	RNF2	PRR12	MAB21L1	KANK2	MAP2K1	KRT81	TBX4	VARS1	COL25A1	TERC
HP_GLAUCOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLAUCOMA	NLRP3	BCOR	FSCN2	ALDH1A3	ARSB	VPS37D	RGR	ZEB1	IDH3A	TREX1	PRPF4	CYP1B1	TKFC	ATOH7	RNASEH2C	PITX2	RNU4ATAC	ADAMTS3	NDUFB11	RIGI	CANT1	PRPF31	PLOD1	FOXC1	RPS24	ASB10	FKRP	VCAN	SLC7A14	PCARE	COL18A1	DHCR7	RPS27	EYS	MYOC	GP1BB	AGK	ADA2	DCN	CRYAA	RPS28	IDUA	LTBP2	GJA1	RREB1	POMK	BBS2	PCNT	REEP6	SMC1A	DAG1	TIMP3	YARS2	DSE	ADAMTS10	RNASEH2B	RPS29	CREBBP	POMT1	MFRP	YAP1	MLXIPL	BEST1	ARL3	RPL35A	TRIP13	NDP	IMPG1	FGFR3	RP2	CLRN1	PTCH1	FGF10	POMT2	TBX1	FKBP6	TEK	AGBL5	OVOL2	CRB1	KIF11	NCAPG2	LARGE1	PRPH2	RPE65	COL4A1	ADAMTS17	WT1	TTC8	RECQL4	POMGNT2	CLIP2	PIK3R1	DHDDS	NR2E3	FBN1	RXYLT1	CRPPA	SRY	RAD21	EXOSC2	BUB3	SPATA7	TULP1	SNRNP200	SIX6	SKIC3	GJB3	BDNF	RPL26	ARHGEF18	ATR	SEMA4A	PDE6A	CSGALNACT1	WDR36	TBC1D20	CRYBA2	NRL	CDH11	PEX5	OTX2	CISD2	USH2A	ROM1	WFS1	ADAMTSL1	RPS19	ANTXR1	B3GLCT	LSM11	CA4	ZNF513	TMEM98	RP1L1	RLBP1	COMT	BAZ1B	RPS15A	ELN	CCDC28B	FKTN	CCDC22	AKT1	GMPPB	EP300	ZMIZ1	FUT8	SEC24C	SLC4A4	B4GAT1	IMPDH1	KLHL7	ATRIP	CLN3	PRPF8	PEX16	EIF4H	B3GALT6	ZSWIM6	PUS1	PAX6	RHOA	RRM2B	CBS	RAX	PTPN22	RBBP8	AHI1	COL8A2	OCRL	KIZ	FAS	GNAQ	PRR12	MERTK	FOXE3	MASP1	CRX	TOPORS	PDE6B	STUB1	IFT140	RPS7	MAK	POMGNT1	BUB1	ANKLE2	GRHL2	ANKRD55	CEP152	BRD4	CERKL	RP1	COL2A1	FGFR2	FAM161A	PRDM5	COL3A1	ACVR1	GUCA1B	NAA10	RPS26	MYMK	PRPF6	CCBE1	RNU7-1	SOX2	TRIM44	FAT4	SCAPER	TUB	GATA1	METTL27	XYLT1	RDH12	HDAC8	IMPG2	TGFB1	COX7B	IL2RB	HCCS	PEX3	GTF2IRD1	NHS	BUB1B	HLA-DRB1	IL2RA	EBP	GLIS3	PEX1	PRPF3	RBP3	RPL15	GZF1	PDE6G	FAM50A	PRPS1	RPL11	FLNA	SBF2	KIAA1549	PEX6	BCL7B	IFT172	TRAIP	RPL27	ABCA4	PEX19	NCF1	NEK2	RS1	PTCH2	LOXL1	CHRDL1	RP9	LMX1B	COL11A1	OFD1	RFC2	FZD4	RPS10	CRYBB3	TBL2	POLG2	PEX13	PTPN2	B3GALNT2	CD247	ZNF469	PROM1	GTF2I	OPTN	IFIH1	SLC25A4	SUFU	CDHR1	PIK3C2A	RPL18	GSN	ARL6	CENPE	CENPJ	RPL31	MAF	STX1A	RPL5	NOD2	LRAT	DNAJC30	IFT88	MAFA	CEP57	CNGA1	RNASEH2A	CNGB1	PEX11B	HIRA	STAT4	PEX12	NUP85	MAG	PRCD	SKIC2	TWIST1	GJB4	CFAP418	TSR2	WASHC5	ARVCF	PYCR1	PTEN	CHST3	SMC3	PEX10	BBS1	BUD23	NFIX	PRSS56	ARL2BP	ESCO2	ZNF408	PEX2	VSX1	RPS20	SAG	SH3PXD2B	FREM2	PEX14	CHST14	NF1	LMBRD2	NIPBL	EFEMP1	HGSNAT	KDSR	PLK4	GTF2IRD2	LIMK1	RPS17	RHO	NTF4	SAMHD1	ADAR	IDH3B	DHX38	TMEM270	RPL35	JMJD1C	MAB21L1	B3GAT3	LRP5	PEX26	RPGR	BTNL2	AHR	PXDN	HRAS	UFD1
HP_ABNORMAL_CONJUNCTIVA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CONJUNCTIVA_MORPHOLOGY	DNASE1L3	NLRP3	WIPF1	IARS2	HMOX1	TFRC	GJB2	SLC39A4	SDHD	IL10	TCF3	TLR4	ERCC6	PLG	SREBF1	SEC23B	STAT4	STX16	ANO10	GLA	BTK	GJB6	GDF2	TNFRSF13B	COL17A1	KRT1	TNFRSF1A	MBTPS2	HLA-DRB1	SHMT2	ERCC4	SLCO1B1	KAT6A	MMP1	PSMB9	RAG2	ERCC8	TP63	UROS	SMAD4	FOXC2	GTF2H5	ERCC3	POLH	ERAP1	ACVRL1	STX11	IGHM	SLCO1B3	FGFR2	SETX	LRBA	HLA-B	TKT	FGFR3	AP1G1	PSMB8	MPLKIP	PIK3R1	FGF10	IFNGR1	LAMA3	GNAS	IKZF1	TNFRSF13C	GALNT3	XPC	WAS	GTF2E2	CD19	PIK3CA	ICOS	DKC1	AP1B1	CTSA	CR2	RAG1	MTTP	CD79B	FGFR1	USB1	GSN	IL12A-AS1	ENG	ASAH1	ERF	HLCS	KRAS	SDHB	BLNK	ASPH	UROD	ERCC2	USF3	VPS33A	DDB2	FUCA1	AEBP1	MAPT	C4A	PEX6	PKHD1	IL12A	XPA	MANBA	IL23R	TARS1	KRT14	MEFV	NOD2	NLRP1	SF3B2	LBR	GATA1	KRT10	CARS1	AKT1	PCNA	LRRC8A	PAX1	IGSF3	FBN1	SCN9A	RNF113A	PITX2	PIGA	ATM	CCR1	PTEN	RNF168	FERMT1	PSMB4	ERCC1	COL7A1	BTD	RNF125	KLRC4	AIRE	GNAQ	PIEZO1	MASP1	MAB21L1	IGLL1	UBAC2	SAMD9	SALL1	KLLN	BTNL2	ERCC5	DACT1	LIG1	SDHC	FAS	CD79A
HP_VISUAL_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VISUAL_IMPAIRMENT	GUCY2D	MT-ND4	PRIMPOL	CACNA1E	VPS37D	GJB2	SPATA5	PLCH1	PRPF4	HGSNAT	PHOX2A	CNGA1	ITGA2	CNNM4	FRMD7	ATF6	TYR	SMARCB1	NDUFB11	MT-CO3	MT-TC	FOXC1	FZD4	THPO	PGAP1	SLC7A14	OCA2	SIX3	PCARE	ARSG	PEX10	MSH2	SH3TC2	GNAS	LRAT	GRK1	PPT1	TMEM67	EIF2B5	WAC	LTBP2	AIP	HADHA	DLL1	ABCA4	TMEM126A	FDXR	CACNA1F	MFSD8	ARID1B	IMPG1	TIMP3	PRPH2	CFHR1	PRPS1	CRB1	ZNF408	BRCA2	VPS4A	ERCC5	LMNB1	EXOSC9	ARL3	CARS2	HSD17B4	PGK1	PRTN3	CHN1	GPR143	PIGN	PSMD12	MECR	USP8	WARS2	FDX2	POMT2	MAK	GLRX5	HPS1	ELOVL4	FKBP6	NDUFA1	AIMP1	PIK3CA	TGFBR3	CLRN1	NCAPG2	NMNAT1	FOXP1	TUBGCP2	APC	GUCA1B	POMGNT1	CCND1	NAGA	IGBP1	MKS1	CHKA	ATN1	FGF8	MT-TS2	MT-TW	GNB1	GLI2	PEX2	USH1G	ASNS	USP48	TRRAP	MAFB	IL12A-AS1	SLC6A6	NR2E3	COPB2	FBN1	BEST1	MT-ND5	FGFR1	PAX6	SLC25A4	ARL2	TNFSF11	USH1C	OPA3	TULP1	HPS3	SNRNP200	GABRD	TTPA	ZIC2	PDE6G	GNAT2	SCAPER	RHO	TCOF1	SEMA4A	ARSA	TACSTD2	PDE6A	SYT1	CAPN5	MFN2	MIR204	TSEN2	THOC2	ZNF423	LRP5	TREX1	SURF1	XRCC4	SALL2	USH2A	TTLL5	MT-ND1	TBX1	PLXND1	HEXB	TNFRSF11A	SPATA7	NDUFS1	POLR3GL	MAPKAPK3	MT-CYB	RAB28	GMPPB	FGFR2	TRAF7	TGFBI	IMPG2	WASF1	RPGRIP1L	IMPDH1	PROM1	RPE65	CRX	EIF4H	MTRR	PEX11B	TMEM53	LZTFL1	DYRK1A	ADAMTSL4	MT-TF	WDR19	PDSS2	AIRE	INPP5E	SOX11	AHI1	LAMA1	FAS	NDUFAF3	SDHD	AP4E1	KIF5A	PEX1	PDE6B	PEX12	PEPD	IFT140	ROM1	FDFT1	DISP1	CNGA3	TRIO	LYRM7	ATIC	WDR11	GRHL2	P4HTM	IKBKG	CERKL	CBS	CPSF3	TUBB2B	STIL	COL2A1	MMACHC	BAP1	GATA2	IL10	CC2D2A	KCTD7	C19orf12	ARL6	TRIM44	OCRL	METTL27	GNAT1	NDUFS4	ITGA2B	ARHGEF18	CCDC47	H4C3	KARS1	RBP3	UROS	SLC4A11	PRPF3	RPGR	KRAS	CLCN4	ATP1A3	FGFR3	PDGFB	GRIN2D	TBC1D20	ACVRL1	CHMP1A	YME1L1	PCYT2	IFT172	NDP	RS1	SFXN4	GPR179	HLA-B	NCF1	AIPL1	CFAP410	MLH1	SCN1A	RAB3GAP2	ABCD1	CHRDL1	CYP4V2	COL8A2	RP9	GTPBP3	IFNGR1	FKTN	HARS1	KIDINS220	EIF2B1	ACTB	CFAP418	RD3	PEX13	CLN3	DLD	CD247	OGT	PIK3R2	FANCI	BRAT1	MLXIPL	TAOK1	NDUFB9	ERCC4	TUBGCP6	CNGB3	POMK	COL17A1	CDH23	RTN4IP1	PQBP1	POC1B	CRYGC	NDUFB3	GNB3	CEP290	PEX19	NDUFS2	SNRPN	PRNP	NDUFAF5	CEP85L	SCN8A	PPP2CA	MT-CO1	CHM	DNAJC30	C4A	MT-ND3	SETD5	HSD17B10	PPP2R1A	SAG	MAG	IL23R	PNPT1	RRM2B	ITPR1	ARL2BP	ALG2	FANCF	BBS1	RPGRIP1	BIRC3	CKAP2L	FARS2	DCT	EPCAM	CTC1	SOST	CERT1	CYSLTR2	CIB2	KMT2B	DPM1	PARS2	OGDHL	GALC	CHD3	RAB3GAP1	PPP1R12A	GRIK2	TDGF1	MEN1	GDF6	OTX2	VPS11	MMP1	FANCM	UBE4B	PEX26	PIGA	PANK4	HPDL	SH3BP2	SDCCAG8	TTR	KCNN2	MYO7A	MSX2	DPF2	SLC45A2	NLRP3	CABP4	PIGU	MFF	AIFM1	EMC1	EYS	B3GAT3	FANCE	TK2	PTCH1	AP4S1	MT-ATP6	SEPSECS	FSCN2	NDUFB10	LCA5	FANCB	RLBP1	MTHFS	MT-ND6	MT-ND2	TCF4	IDS	ATOH7	FLNA	CASZ1	SPG11	ASB10	PEX5	IQCB1	CTNS	CACNA1B	COL18A1	COQ7	TBC1D2B	MYOC	MT-TL1	PDE6C	ESPN	EIF2B3	SMO	RAX2	ISCA2	PLK4	ALG3	BBS2	CLCN7	HMX1	NUBPL	THSD1	CFH	GRIN1	HSPG2	ADAMTS10	DDR2	FOXH1	NDUFS7	LOXL3	AP1G1	DHDDS	EARS2	VAMP2	AGO2	TRAPPC12	CTNNB1	PRDM16	FA2H	IKZF1	AGBL5	OVOL2	ARNT2	RAD51C	ANGPTL6	MPL	MT-TK	KAT6A	CA2	BLOC1S3	FANCA	ANOS1	TTC8	PDE4D	PRKDC	NEU1	ERCC6	ZNHIT3	TSPAN12	MT-TQ	PEX16	FOXRED1	PHYH	OPN1MW	SPTBN1	SLC38A3	SPTBN4	PRUNE1	LYST	ZEB1	NDUFV1	COQ2	AP4B1	WDR45B	ABCC6	GUCA1A	ARHGEF2	DOHH	TMEM126B	RAC1	PSAP	KIZ	RGR	FXN	PIGY	PIEZO2	MTRFR	MSH6	PTPN22	ADARB1	PIGT	NDUFAF1	MMP23B	MMP19	RP1L1	COL9A2	AFF4	ELN	ANKRD11	CLN6	RIMS1	CDK8	AMACR	CDHR1	PITX2	WHRN	LRIT3	ATRX	MC1R	RIC1	SNX10	MAP3K7	NAPB	BMPR1A	TENM3	CEP78	PEX14	EXOSC8	NSMCE2	NDUFS6	PDXK	BTD	ITM2B	PUF60	CNTNAP1	RDH5	PROKR2	LARGE1	NDUFAF4	P4HA2	TSEN34	ANTXR1	PLA2G6	COL25A1	HIKESHI	TP53RK	CLN8	ADA2	CHST6	AFF3	COG5	VRK1	PEX3	PANK2	SPEN	TUB	RAB18	GRN	SMG9	SKI	MERTK	CLEC3B	TP53	KLHL7	COX7B	RP2	SUMF1	FAN1	OFD1	GRM6	HLA-DRB1	RBP4	H4C9	NHS	OPN1LW	DRAM2	XYLT2	PLOD1	CDC42	KIAA1549	CACNA2D4	ELOVL1	SHH	ELMO2	GTPBP2	NEK2	HLA-A	IBA57	RAB11B	LUZP1	NDUFA6	GLB1	ARPC4	RFT1	NADK2	GABRB1	ZFYVE26	PEX6	POLG2	NEUROD2	FLVCR1	PTPN2	POMT1	MTR	DOCK7	TUBB3	NFIX	GTF2I	GABRB2	GPAA1	PCYT1A	RALGAPA1	AP3D1	NTRK2	GP1BA	IFT88	CTSD	ALMS1	CDC42BPB	RERE	SLC39A14	DNM1L	CNGB1	ERCC2	TSFM	CACNA1I	TELO2	CDON	SALL4	STAT4	TSEN15	LAMC3	DDX3X	EXOSC3	HESX1	MTFMT	TMEM98	AP4M1	DOLK	HS6ST1	TMEM216	CHST3	PDHA1	FN1	GATA1	SARDH	ATXN7	VSX1	GJB6	ARID2	PYCR2	SON	GJA1	GRIP1	CYP27A1	CACNA1D	B3GLCT	GTF2IRD2	LIMK1	LAMP2	DHX37	ADAM9	LCAT	LEMD3	PDE6H	TMEM270	KANSL1	DHX38	BCL10	INVS	ENG	ZNF513	REEP6	LRPAP1	UBAC2	MT-ND4L	NPHP1	PXDN	WT1	TBC1D24	AMPD2	PMS1	LRP2	ADGRV1	IDH3A	KCNJ13	DPP6	YARS1	HECW2	TGIF1	B3GALNT2	BMP4	OPA1	RGS9BP	NODAL	FRAS1	LIM2	LSS	VCAN	NUS1	TCIRG1	SPATA5L1	PITPNM3	AFG3L2	VPS51	HPS6	PCDH12	AAAS	P3H2	DCN	WDR26	SMARCA2	SLC25A46	CRYAA	LETM1	PUS3	ZEB2	CCDC141	SLC25A1	POLG	PALB2	RCBTB1	GP1BB	HK1	DUSP6	TSEN54	KIF11	MACF1	CLTC	SOX3	EIF2B4	CSPP1	ARID1A	HLA-DQB1	MAD2L2	BBS5	NDNF	KCNV2	NDUFV2	KIF1A	SPRY4	TRAF3IP1	CEP164	BRIP1	PNPLA6	C1QTNF5	SRY	TEK	DLAT	PIGB	PAK2	AGTPBP1	FGF12	PRPF8	AHR	ATP1A2	ADNP	NBAS	POLR1D	SF3B1	CLCC1	CFI	RNF13	GNA11	FCSK	EPM2A	NRL	WFS1	MTOR	COL4A1	VPS13B	MAPK8IP3	SMCHD1	EFEMP1	OPN1SW	ERCC8	BAZ1B	VHL	CCDC28B	ZMIZ1	SLC52A2	PCDH15	YIF1B	MICU1	SDHAF1	CASK	FEZF1	KIF14	RHOA	ANKH	KLRC4	FOXE3	PRR12	PRDX1	TMEM237	FBXW7	TOPORS	GRM7	FANCC	ACO2	ANKRD55	RNU4ATAC	ASPA	SLC39A4	FAM161A	PRDM5	SLC24A1	PEX7	NAA10	COL11A1	POLR1C	CSF1R	MALT1	TIMM8A	SEMA3A	PLG	DCC	MBD5	XYLT1	PITX3	UFM1	MT-TH	IL2RB	PLEKHM1	BLOC1S5	HCCS	MICOS13	COL9A1	OSTM1	AHDC1	GM2A	ARHGDIA	GABRA2	SCN3A	AP3B1	CLN5	ERAP1	FH	IDH3B	BCL7B	PMPCB	COL7A1	MT-TV	BCOR	JAK2	BRAF	TRPM1	NHLRC1	STX3	NDUFS8	FLRT3	SMARCC2	CACNA1A	TUBB4B	USP45	GSN	TMEM231	XRCC2	SYNJ1	ST3GAL5	C1QBP	OSGEP	NDUFAF8	ZNF469	DTYMK	TERT	FKRP	TRAPPC2L	PRKCZ	SETBP1	SDHB	CDH3	ABCA1	SOX4	NOG	PRCD	H3-3A	SOX2	TLCD3B	MEFV	RDH11	SLC38A8	NR3C1	BUD23	POU3F4	RPS20	SELENOI	CD109	HPS5	LONP1	TRAPPC11	RGS9	ITGB3	NDUFS3	SLC1A3	CWC27	PMS2	TMEM138	HMCN1	LMBRD2	KIF1C	GPR101	MT-CO2	GAS1	SDHA	ERCC1	CRYBB1	TBCK	CFHR3	MLH3	NF1	SOX10	ARX	FANCG	PDZD7	PORCN	BTNL2	CYP1B1	D2HGDH	COL3A1	PDZD8	SMARCE1	PROS1	FGF17	POLA1	NDE1	UBE2T	SAR1B	FBN2	TLR4	B4GAT1	PRPF31	NARS2	DIAPH1	OAT	ENPP1	COX6B1	TRNT1	NPHP3	TUBB4A	SMARCA4	NDUFB8	AGBL1	SUOX	FREM2	MIR184	RDH12	CREBBP	YAP1	TUBGCP4	FIG4	GDF3	NDUFA11	HLA-DPB1	SRD5A3	KIAA0586	HDAC4	NF2	ZFHX4	PDPN	RIMS2	CEP41	CLP1	SETD1A	SCO2	MTTP	CLIP2	RFWD3	SMARCD1	H1-4	ERF	TWIST2	NDUFAF2	SREBF1	GLYCTK	UROD	MCOLN1	SLC24A5	BDNF	EPRS1	MARK3	RP1	POGZ	EIF2B2	BRCA1	TASP1	REV3L	CEP120	HKDC1	KERA	PI4KA	CA4	RMRP	PHF6	KIF3B	GNAQ	PAX2	IL17RD	NPHP4	SMC1A	ATP6V0A1	LAMB2	GUSB	KRT12	CEP250	HLA-DPA1	PET100	SHANK3	PPP3CA	SUCLA2	PHGDH	ELP4	CDKL5	TPP1	PRPF6	UCHL1	IQSEC1	TUBA3D	TAT	RORA	GDF2	HPS4	GTF2IRD1	GNS	IL2RA	AKT3	CLCN6	TWNK	SMAD4	SLC19A2	CTLA4	PIGQ	ALPK1	IFT74	TWIST1	AKT1	RFC2	FANCD2	TBL2	PRRT2	COL9A3	RRAS2	ARMC9	TACR3	AARS1	KCNAB2	TFE3	DTNBP1	PRORP	MAF	STX1A	NOD2	PROK2	TANGO2	MT-TE	CHD7	ASPH	NR2F1	APOE	MFRP	STAG2	SLC35A2	UNC119	TIMMDC1	IL12A	BOLA3	CLCN2	SF3B2	POLR1B	NHLRC2	NOTCH3	FOXL2	TGFBR2	CAMK2B	CCR1	SUFU	SLX4	POLR2A	FANCL	CHP1	ALDH3A2	NYX	PIGP	MAB21L1	MED25	TFG	PIGS	GMPPA	SOBP	RAD51
HP_TELECANTHUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TELECANTHUS	ADAT3	NEK1	CHRNG	IFT122	NSD2	GPRASP2	HECW2	HNRNPU	COL3A1	LMNA	ETFA	PURA	MAP3K7	IDH1	PAX3	MITF	PITX2	IFT52	SOX10	SPATA5L1	SPOP	TBX1	COL18A1	ARL3	TBC1D2B	GP1BB	ADH5	TWIST2	GLI3	TBL1XR1	TAPT1	LIG4	MYOD1	ZEB2	ANKRD11	YY1	ZMPSTE24	RREB1	SKI	PIK3R1	SLC26A2	HNRNPR	SNX14	VPS33A	ACTG1	ZBTB18	PIGQ	KITLG	KRAS	CREBBP	GJA1	NOTCH3	PPP1R21	GRIA1	MASP1	MYH3	NSUN2	EDN3	PTCH2	PTCH1	COLEC11	PTH1R	C12orf57	C2CD3	EFTUD2	EDNRB	KMT2A	IFT43	DVL3	FOXL2	ZFHX4	DOCK7	ETFB	CDH11	MUSK	HDAC8	NFIX	DDHD2	ZMYM2	PIK3R2	CDH2	XRCC4	TFAP2A	PQBP1	KDM6B	MID1	SNAI2	ZNF148	H1-4	UBE3B	FBN1	STXBP1	ADAMTS18	KAT8	GNB2	HIRA	UBR7	RAB23	COLEC10	OFD1	MAFB	DSE	ATP6V1B2	LMX1B	KCNH1	MAP2K2	B4GALT7	FOXC1	FLNA	STAC3	ACTB	CDK10	ARVCF	DDB1	FGFR2	SUFU	AKT3	TYR	CDK13	FLNB	ZSWIM6	COMT	IRX5	NOTCH2	KIFBP	NRAS	SEC24C	CHST14	FGFR1	ETFDH	CCND2	KCTD1	ALX4	MSL3	USP9X	ATRX	HRAS	CRIPT	HHAT	ALG9	ANKH	RNF125	WDR35	EXOSC1	PIGU	TLK2	JMJD1C	OTUD5	KCNN3	EFNB1	EBP	CCNQ	RPS6KA3	UFD1	COL25A1	ANKLE2
HP_PTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PTOSIS	CEP290	NDUFA9	SEMA3E	ODC1	CHRND	MTMR14	EEF1A2	HECW2	PDHA1	ZBTB20	LRP12	PHOX2A	MYH8	ZNF699	GABRA5	ZIC1	CHRNA1	PURA	RNASEH2C	SMARCB1	PTPN11	SALL4	NDUFS7	FAR1	DGUOK	FZD2	BRCC3	TCF12	NSD2	EDEM3	CCDC115	ERBB2	PEX10	NDUFA13	GP1BB	ADA2	FHL1	LMNA	SMARCA2	TPM2	COX15	DBH	RPS28	NTRK2	TAF8	ZEB2	CCDC141	AIP	TMEM237	CFL2	NDUFA2	SKI	STAMBP	CSPP1	UBA1	ARID1B	POLG	HOXB1	TMEM67	ZNF407	SLC3A1	PALB2	RNASEH2B	RPGRIP1L	JAG2	MUSK	RPS29	CREBBP	TOP3A	LZTR1	BRCA2	CACNA1A	RPL35A	CHN1	DUSP6	GLE1	FGFR3	YWHAG	GIPC1	FDX2	TMEM218	FGF10	MKS1	CLTC	LONP1	IGF1	CC2D2A	C9orf72	NDUFA1	MGME1	RYR1	ACKR3	KMT2A	ABHD5	CHRNE	HSPG2	ARID1A	BAP1	TRIO	MAD2L2	BRPF1	CHD8	NDNF	CHD7	NDUFV2	SPRY4	BCAS3	WT1	MITF	KCNJ11	SLC30A9	SUFU	BRIP1	AEBP1	NOP56	COLEC11	GABRA2	TMEM107	MAFB	SNAI2	MAP2K2	PPP1CB	STAC3	RAD21	LETM1	NDUFS4	SLC25A4	SLC52A3	NGLY1	MAF	IREB2	KDM6A	VAMP1	ADNP	RPL26	SCN3A	UBR7	HNRNPK	OPA1	KMT2D	COX10	UBE3B	RRM2B	CBL	NOTCH3	ACTB	SLC25A1	ZNF423	SLC19A3	ALX3	RB1	SURF1	RAPSN	COLQ	PAH	TWNK	LSM11	NDUFS8	PREPL	PLXND1	TUBA1A	HCN1	NDUFS1	BIN1	RPS15A	DARS2	ZMIZ1	SEC24C	TRAF7	PEX6	PHF6	MICU1	FLI1	MYH2	FEZF1	SHANK3	EDN1	DNM1L	SMC1A	TCTN2	ATP6V1A	SLC13A5	PTS	NXN	AGRN	SOX11	UNC80	ZNF462	FAM149B1	NDUFAF3	PRR12	ARV1	KIF5A	MASP1	TUBB3	PEX1	SYT2	MED25	CHCHD10	FZR1	SYNJ1	LYRM7	RAF1	WDR11	FANCC	ESCO2	BRD4	KATNIP	SCN8A	FGFR2	POLRMT	GPRASP2	TMEM43	COL9A3	COL3A1	QRICH1	FGF8	PEX7	PRDX3	NECAP1	KIFBP	MYMK	MAP3K7	BCOR	EMD	SEMA3A	DCC	FGF13	CTBP1	MTSS2	GATA1	RRAS2	ATP1A3	INPP5E	DVL3	PAX6	SYNGAP1	TBX1	ARMC9	TUBB6	ANO10	COQ2	SLC18A3	WNT5A	GPC4	FGFRL1	DHDDS	ZFHX4	NEB	CCDC47	H4C3	MYOD1	SLC18A2	SPRED1	HMGB3	SHOC2	MRAS	DNA2	FGF12	CHD4	CPLX1	FOXC2	SLC5A7	DLAT	KRAS	CNP	GRIA3	SIX2	GMPPB	ALG14	IDS	MYH3	NF1	TCOF1	FOXRED1	SLC6A9	PPP3CA	EDNRB	KDM1A	CPLANE1	TMCO1	TGFB3	SMARCC2	WDR73	TTN	HDAC8	SOS1	PAX7	GABRB2	PIK3R2	IFIH1	FANCI	PIGG	ATP1A2	FLRT3	NDUFB9	ABCC8	PEX11B	CDH23	RPL18	GSN	TMEM231	XRCC2	RPL31	HEATR3	GBA1	NDUFB3	PEPD	KLHL41	TBC1D24	NDUFS2	NSUN2	DVL1	ELN	KCNA2	SCO2	NOVA2	SGPL1	ALG2	C1QBP	LIPT1	RNASEH2A	NDUFAF8	NDUFAF5	LRP4	GNAI3	RILPL1	HIRA	CAPN15	TFAP2B	BRAF	MT-ND3	TOGARAM1	SETD5	TARDBP	SOX4	MYO18B	CHRNB1	B9D2	NOG	SQSTM1	TWIST1	MT-TL2	ARVCF	SF3B4	PTEN	FGD1	ALX1	SECISBP2	FANCF	DCHS1	SETBP1	SNAP25	WWOX	GFER	CERT1	CEP104	PYROXD1	GCK	KMT2B	GATA3	DPAGT1	MT-ND2	KCNB1	NPHP1	OGDHL	MAP2K1	RPS20	AHI1	TGIF1	PPP1R12A	NDUFS3	MEN1	LAMB2	TMEM138	FANCM	KIF21A	TBK1	TYMP	PEX26	MT-TN	SCN4A	RPS17	KCNN2	DPF2	SAMHD1	ADAR	WDR35	EXOC8	PPP2R5D	SOX10	CYFIP2	TSPOAP1	JMJD1C	RNASEH1	FANCE	TK2	PUM1	FANCG	SUCLA2	ADPRS	AFG3L2	SMS	KIF1B	SC5D	SELENON	PDZD8	CHRNG	MECP2	NDUFB10	SZT2	FGF17	IARS2	FANCB	UBE2T	DNM1	UGDH	RIT1	MYL2	ACTA1	CACNA2D1	CDK19	PSAP	IPO8	SMARCE1	MT-ND1	PDX1	RPS24	NARS2	FBXL3	PEX5	SYNE1	SPECC1L	ARL3	DHCR7	TBC1D2B	RPS27	GLI3	RSPRY1	CBY1	ZC4H2	SMARCA4	SOS2	NDUFB8	TET3	LIG4	RREB1	GRM1	KAT6A	RRAS	ACTL6B	NUBPL	KDM5B	PHIP	TYMS	VCP	NDUFA12	MED12L	KBTBD13	GFPT1	NDUFAF2	YAP1	ASXL2	SLC6A8	NEFL	PIEZO2	FLNA	PSMD12	YY1	RALA	EARS2	HYLS1	CHAT	GMPPA	TGFB2	FARS2	NDUFA11	PACS1	KIF11	RAD51C	HRAS	PAX3	POLG2	PABPN1	FOXL2	NDUFA10	DOK7	CEP41	CDC42	COA8	FOXP1	FANCA	PHYH	ANOS1	MYPN	PDE4D	MTTP	ATP6V1B2	KANSL1	RFWD3	ACTG1	SMARCD1	MID1	ROR2	PEX16	NDUFA4	IDUA	ERF	RERE	MYO9A	TFAP2A	COL13A1	FBN1	TMEM216	MED12	NRAS	NDUFV1	ISCU	GNB2	BDNF	NAA10	ZMYND11	MARK3	COLEC10	ARHGEF2	FBLN5	BRCA1	TMEM126B	TBC1D20	LIG3	REV3L	CEP120	PTPN22	RPS19	B3GLCT	ATRX	MT-TL1	CDK13	AARS1	NDUFAF1	TRAK1	TCTN1	COMT	PDGFRB	BPTF	AFF4	PET100	AKT1	CDK8	EP300	COL2A1	TPM3	IL17RD	HUWE1	PEX14	ERCC4	ERBB3	ZSWIM6	TENM3	TLK2	PLEC	NDUFS6	SDHA	YARS2	DNM2	RAB3GAP1	MYH7	AUTS2	ATXN3	CELF2	PUF60	CNTNAP1	HLA-B	COL1A2	PROKR2	NDUFAF4	P4HA2	TH	KIAA0586	RPS7	COL25A1	ANKLE2	CYC1	TUBB2B	ITCH	CLCN3	FUS	MYMX	PEX3	DDX59	RPS26	ALDH18A1	CACNA1B	RNU7-1	RNU12	SLCO2A1	SYNE2	PIBF1	VARS2	AP3B2	WFS1	CNKSR2	HPGD	THUMPD1	SPR	HLA-DRB1	MINPP1	MBTPS2	RPL15	BCS1L	ARL13B	AK9	PRPS1	RPL11	MAPK1	ECEL1	PIGQ	MTFMT	KITLG	PLOD1	SBF2	MRPS28	MAPRE2	RPL27	SLC38A3	LMX1B	NDUFA6	ATG7	NALCN	DDC	EED	FANCD2	RPS10	RBCK1	SMAD4	TAB2	NOTCH2NLC	KCNH1	TACR3	TFE3	PARS2	PEX12	SIAH1	TREX1	MID2	NELFA	EPG5	CDH11	CSNK2A1	RPL5	SLC17A5	PROK2	SLC12A6	CDC42BPB	STAT3	NIPBL	IER3IP1	ANAPC7	TACO1	TIMMDC1	DALRD3	SUCLG1	RBM8A	HESX1	ALDOA	TSR2	HS6ST1	PEX19	TOR1A	SMC3	SPRED2	SF3B2	PEX2	TYR	RASA2	GABRG2	MTRFR	LGI4	ARID2	MYF5	PEX13	NDUFAF6	FGFR1	MYF6	SLX4	GRIN2D	ANKRD11	PLXNA1	FANCL	DHX37	LMOD3	PIGL	MED13L	ANXA11	PLCB4	FAT4	SOST	TP63	INS	MRPS34	GABBR2	NUTM2B-AS1	RPL35	ECHS1	UBA5	NUS1	NDUFB11	DIS3L2	SLC1A2	APC	SEPTIN9	RAD51	B9D1	UFD1	AHDC1	ACBD5
HP_ROD_CONE_DYSTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ROD_CONE_DYSTROPHY	CEP290	FSCN2	SH2B1	NDUFA9	WARS2	DNAJB13	TRNT1	RPL10	HSPD1	TULP1	MT-ATP6	HGSNAT	RPGR	CNGA1	BBS10	KIF5A	PRCD	PANK2	DNAAF4	RSPH3	MT-ND1	PEX13	ARL6	STK36	IMPDH1	ODAD4	PCDH15	KLHL7	IFT140	MT-ND5	CFAP300	MERTK	AGBL5	ARL3	SEMA4A	BEST1	PEX3	RP2	BBIP1	PDE6A	CCDC65	OFD1	LRAT	MKKS	PEX1	TTC8	TRAF3IP1	USH2A	PMM2	SDCCAG8	RBP3	IFT172	HMX1	FOXJ1	CDH23	NME8	BCS1L	CFAP418	TMEM67	DPAGT1	ODAD2	HK1	DNAH1	DNAH5	IDH3B	IFT74	SPAG1	ZNF408	AIPL1	PEX5	CFAP410	DHDDS	PRPS1	DNAH11	AMACR	CFAP221	RSPH4A	BBS7	NEK10	MYO6	MAK	NR2E3	USH1G	HYDIN	ATXN2	SPEF2	CFAP298	PEX16	RSPH1	CLRN1	MT-ND6	GUCA1B	PEX6	FLVCR1	CC2D2A	MCIDAS	BBS9	PEX12	RSPH9	BBS2	IFT27	MT-ND4	BBS5	GAS2L2	CNGB1	DNAAF2	PHYH	TOPORS	ABHD12	DNAAF5	PRPF3	RLBP1	MTTP	PEX2	SAG	PCARE	SRD5A3	ALG6	CDHR1	C1QTNF5	MKS1	PRPF4	ZMYND10	PRPF6	CTSD	CLDN19	EXOSC2	MT-ND2	PEX19	ARL2	USH1C	TRIP13	LRRC56	IQCB1	CIB2	GGCX	CRX	PRPF8	MVK	GAS8	AHR	ROM1	PDE6G	COQ2	GNAT1	MFRP	HSD17B10	TELO2	DNAL1	WDR19	RP1	POGZ	CWC27	PDE6B	AP3B2	RRM2B	PEX7	RDH11	DNAAF3	ARL2BP	KIZ	RGR	ABCA4	DNAAF1	SLC7A14	DYNC2I2	ODAD3	FAM161A	WHRN	ASPA	MT-TV	CCDC40	MT-TK	GATA3	DNAI2	PDZD7	MAPKAPK3	CCDC28B	DNAH9	NEK2	SLC35A2	TTC12	IMPG2	BBS12	DNAAF11	GRK1	KIF3B	PEX10	PRPF31	PRPH2	CLN3	DNAI1	RPE65	NRL	ADGRV1	MT-TW	MDH2	PEX11B	NPHP4	FDXR	PPP2R3C	LZTFL1	MT-TL1	PEX14	CRB1	PROM1	MT-ND3	SNRNP200	CCDC103	CCNO	DHX38	EYS	BBS4	ZNF513	DNAAF6	RHO	REEP6	MYO7A	ACOX1	BBS1	PEX26	DRC1	CERKL	CCDC39	ODAD1	RP9	ACBD5
HP_VERTICAL_SUPRANUCLEAR_GAZE_PALSY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERTICAL_SUPRANUCLEAR_GAZE_PALSY	POLG	DLAT	AGTPBP1	CCDC88C	MTFMT	AASS	EIF2AK2	NAXE	MAPT	PLA2G6	POLR3B	SQSTM1	POLR3A	NPC1	PIGT	NOP56	ATXN1	FTL	TWNK	ATP13A2	SPG7	DCTN1	PLP1	ALDH4A1	VPS13A	NPC2	ACOX2	KCNC3	NEK9
HP_ABNORMAL_ELECTRORETINOGRAM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ELECTRORETINOGRAM	ADGRV1	BBIP1	CERKL	PCYT1A	FSCN2	RP1	LCA5	MT-TS2	RGR	IDH3A	FAM161A	TULP1	PRPF4	PNPLA6	RPGRIP1	TKFC	GUCA1B	IDS	AIPL1	SLC24A1	SPATA7	ZNF699	PRCD	TPP1	PRPF6	BBS10	BBS12	TTLL5	CEP19	PRPF31	SCAPER	CABP4	IMPDH1	TUB	IFT140	SLC7A14	RDH12	PCARE	IQCB1	GNAT1	IMPG2	RPE65	ARSG	EYS	NPHP1	LZTFL1	MYO7A	BEST1	CLRN1	CACNA2D4	PDE6A	BBS5	PDE6C	ESPN	GRM6	GRK1	PPT1	RHO	LRAT	ADAR	HADHA	ALG3	BBS2	REEP6	NUP62	PDE6D	PEX1	PRPF3	RBP3	RPGR	TRPM1	PDE6G	TIMP3	CFAP418	SSBP1	IDH3B	GUCA1A	CRB1	KIAA1549	WDPCP	IFT172	ARL3	RS1	HSD17B4	ABCA4	CDH23	IMPG1	CNGB3	NEK2	USH1C	BBS1	RP2	CYP4V2	RP9	NR2E3	OFD1	AGBL5	GNAT2	SDCCAG8	PIEZO2	RD3	MKS1	NMNAT1	PRPH2	CLN3	CC2D2A	PEX12	CRX	PROM1	RNF216	ACOX1	CEP104	CNGB1	TUBB4B	SLC25A4	MCOLN1	WWOX	TOPORS	CDHR1	PDE6H	TTC8	RLBP1	GNB5	USH2A	USH1G	SAG	USP45	CACNA1F	DHDDS	ARL6	CNGA3	GNB3	CEP290	IFT88	GUCY2D	SNRNP200	CNGA1	POMGNT1	TRIM32	KCNJ13	ROM1	ARHGEF18	MFRP	AGK	GPR179	CHM	HARS1	SEMA4A	CLCC1	IFT74	CAPN5	PDE6B	MKKS	ATF6	TLCD3B	NRL	KIZ	CA4	ARL2BP	NOTCH3	ZNF513	RP1L1	CIB2	ZNF408	GDF6	CWC27	WHRN	PCDH15	LRIT3	IFT27	KIF3B	OPN1LW	KLHL7	PRPF8	OPN1MW	BBS7	HGSNAT	TIMM8A	BBS9	CEP78	OPN1SW	AHI1	DHX38	NYX	MT-ATP6	EMC1	MERTK	BBS4	RDH5	CLN8	POGZ	LARGE1	PDZD7	VSX1	MAK	AHR	FLVCR1	SUCLA2
HP_SLOW_SACCADIC_EYE_MOVEMENTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLOW_SACCADIC_EYE_MOVEMENTS	ATXN7	AGTPBP1	ELOVL5	FBXO7	DHX16	PIK3R5	AFG3L2	MECR	MAPT	ATP2B3	VAMP1	ATP13A2	COQ5	TMEM240	SHMT2	SNCA	PDYN	SLC44A1	ATXN2	NOP56	PEX2	ATXN1	GJC2	GBA1	MRE11	TGM6	SYT2	CHP1	TNR	VPS13A	PLD3	PRNP	ALS2	DARS2	ATXN8OS
HP_ABNORMAL_LENS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LENS_MORPHOLOGY	FGF5	ADGRV1	KCNJ13	COL2A1	VPS37D	RGR	SDHD	IDH3A	HS2ST1	PRPF4	RPGRIP1	ZBTB20	B9D2	ETFA	B3GALNT2	PAX6	TERT	LIM2	SETD2	MT-TK	ALDH18A1	MT-TC	FOXC1	LSS	FZD4	FAR1	KRT71	FKRP	DGUOK	VCAN	SLC7A14	BRCC3	PCARE	SEC23B	ARSG	SPTLC1	PEX10	FBXW11	P3H2	GP1BB	MYO7A	ITM2B	AGK	PEX3	ADA2	PDE6A	GJB6	CNBP	CRYAA	LETM1	RHO	RPS28	MECP2	ZEB2	XYLT2	FTL	IARS2	DOCK6	HSF4	PEX16	DAG1	FDXR	POLG	PALB2	CRB1	RPS29	CREBBP	NRCAM	POLR3A	ZNF408	ALMS1	BRCA2	VPS4A	BEST1	LRP5	ERCC5	ARL3	SMCHD1	SLC25A13	NOTCH1	RPL35A	RPS6KA3	TRIP13	PEX5	RP2	COL4A3	AMACR	PRG4	ERCC8	POMT2	KIF11	GNAS	APC	GMPPB	LONP1	PTH1R	FKBP6	PEX13	ATAD3A	NMNAT1	UBA5	HNRNPA2B1	LARGE1	PEX6	ABHD5	HSPG2	POMGNT1	MSMO1	ZNF526	MAD2L2	PIK3CA	TMTC3	KIF1B	CHD7	CYP7B1	MT-TS2	COL4A1	ADAMTS17	MT-TW	ATP6V1A	ABHD12	WT1	RECQL4	COL4A5	TRAF3IP1	POMGNT2	USH1G	CEP164	PIK3R1	BRIP1	MOCS1	GALT	EBP	LIG3	ZNF335	POMT1	IL12A-AS1	NR2E3	PTEN	FBN1	MAN2B1	FOXE3	CRPPA	LCA5	SPRED1	CPAMD8	DNMT1	RAD21	SLC25A4	IKBKG	ARL2	OPA3	TULP1	GUCY2D	MAF	PAK2	LEMD2	SNRNP200	SIX6	SPRTN	GABRD	LMNA	PRPF8	GJB3	SCAPER	KCTD1	RPL26	POLR1D	TCTN3	DDB2	TCOF1	SF3B1	SEMA4A	ATP6V1B2	TAPBP	MT-TL1	PNPT1	INPP5K	RNF13	TDRD7	CLPB	ERCC2	MIR204	KRT74	SLC40A1	SLC33A1	WDR19	GNA11	NRL	RBPJ	ALX3	CDH11	RB1	SALL2	USH2A	WNT3	AIRE	BFSP2	TWNK	COL11A1	SPATA7	VAC14	POLR3GL	BAZ1B	RPS15A	CCDC28B	ATP8A2	ALDOB	LRAT	SEC24C	VCP	IMPG2	NOTCH2	PCDH15	PHF6	IMPDH1	CASK	FLI1	ETFDH	WRN	CRX	EIF4H	DNM1L	FKTN	PEX11B	C12orf57	COL7A1	RAB3GAP2	ADAMTSL4	RHOA	CHMP4B	GJA8	KLRC4	FAM111A	INPP5E	PITX2	AHI1	KIZ	FAS	LIPH	KCNH1	CEP290	PRR12	LOXL3	TGM3	PEX1	TOPORS	TRAPPC11	PDE6B	CYP1B1	PEX12	MED25	IFT140	GJA3	MAK	GSR	TRPV4	FLVCR1	BUB1	AMER1	FANCC	ANKRD55	RPGRIP1L	BRD4	CERKL	CBS	ERCC6	PCYT1A	PAH	ITPA	BAP1	FAM161A	ATOH7	IL10	B3GALT6	GUCA1B	PEX7	NAA10	VSX2	CC2D2A	POLR1C	RAB18	MYMK	TCTN2	XRCC4	BCOR	TRIM44	OCRL	AMMECR1	GATA1	METTL27	TKFC	SREBF1	PITX3	TBX1	STAT4	ANO10	FGF3	BMP4	GLA	IL2RB	TONSL	CPT2	BUB1B	COL9A1	RBP3	ABCA2	IFT80	PRPF3	PMM2	PDE6G	GTF2H5	JAG1	PRKAG2	DPAGT1	TBC1D20	ERAP1	IDH3B	FLNA	BCL7B	IFT172	NDP	SEC23A	ABCA4	CRYGC	MAPKAPK5	PEX19	CDH23	NCF1	CFAP410	TKT	MYSM1	FBN2	MT-TV	PTCH2	CHRDL1	RP9	IFNGR1	OFD1	TMEM216	SMAD4	ACTB	ARCN1	CRYGD	MED27	USB1	CRYAB	PORCN	CLN3	CD247	WDR73	ALG3	PROM1	FANCI	DKC1	SUFU	LPAR6	SMG8	TAOK1	B9D1	NEU1	POMK	PHGDH	MOCS2	USP45	RTN4IP1	RPL18	PQBP1	GSN	XRCC2	RPL31	CFAP418	BBS2	TBC1D24	ERCC3	NSUN2	ELN	CNGA1	DMPK	PEX2	PERCC1	RAB3GAP1	HIRA	PTPN22	TGFBI	PRKCZ	C4A	ANO1	ALDH6A1	PRCD	IL23R	CHSY1	RRM2B	ARVCF	MEFV	RDH11	ARL2BP	ALG2	MT-TF	ALX1	B4GALNT1	FANCF	BBS1	COL4A6	CARS1	HNRNPA1	BUD23	TUBG1	MKS1	GFER	CYSLTR2	CIB2	NUP188	TYMS	NOD2	RPS20	GALK1	COL4A4	GDF6	SAG	RNF113A	GJA5	TAP1	UBE2A	LMBRD2	FANCM	TUBB2B	MT-CO2	UBE4B	GALM	PEX26	HGSNAT	HYCC1	PANK4	RPS17	ERCC1	CRYBB1	ATP11A	SDCCAG8	AKT1	KRT83	USP9X	JAM3	SLC2A1	CRYBB2	EYS	JMJD1C	FANCE	FANCG	NF2	ANAPC1	SALL1	KCNA4	RPGR	PDZD7	BTNL2	AHR	COL5A1	TUBGCP6	SC5D	RSPO2	EOGT	FSCN2	NACC1	FANCB	VLDLR	FBXL4	ARSL	MT-ND6	UBE2T	CASZ1	IDH1	TLR4	DYNC2I1	PRPF31	RPS24	MAX	MVK	OAT	WDR35	IQCB1	COL18A1	DHCR7	RET	RPS27	DSG4	FAM111B	CLRN1	NPHP3	BBIP1	ESPN	LIG4	ERCC4	GJA1	RREB1	PARN	PLK4	SUOX	REEP6	HMX1	SMC1A	EPCAM	TCTN1	CTNNB1	MIR184	RDH12	MIP	BFSP1	ADAMTS10	MT-CO1	MTX2	YAP1	DYNC2H1	MLXIPL	KMT2C	SIPA1L3	IMPG1	PTCH1	MT-ND5	PRDM16	SRD5A3	AGBL5	RAD51C	CYP27A1	XPC	CTC1	GTF2E2	APC2	PRPH2	WFS1	BBS9	RPE65	PDPN	ETFB	HNRNPDL	NPM1	FANCA	PHYH	CRYBA4	TTC8	CLIP2	FIG4	KANSL1	CTDP1	DHDDS	RFWD3	MT-CYB	RXYLT1	HCCS	VHL	GCNT2	GBA2	BUB3	SPTBN1	TFAP2A	SDHB	CRYGB	PRUNE1	MORC2	ADAMTS18	FH	HLA-B	BDNF	ARHGEF18	WRAP53	KRT86	PNPLA6	FBLN5	MAP2K2	BRCA1	EPG5	TMEM67	CRYBA2	NSD1	LTBP2	TSPAN12	WDR81	ARHGAP31	CENPF	PIGY	ROM1	RPS19	B3GLCT	CA4	MMP23B	ZNF513	RP1L1	RLBP1	COMT	COL9A2	AFF4	PSAT1	EP300	WHRN	SLC4A4	B4GAT1	KLHL7	RIC1	GNAQ	SMAD3	FLNB	SIL1	COX7B	AP1S1	PEX14	SALL4	CEP78	COG4	LAMB2	CNGB3	MERTK	FYCO1	ABCA12	BRF1	KCNN3	RDH5	EHMT1	ALG8	RPS7	ENTPD1	DACT1	SDHC	APOA1	TERC	RP1	ELP4	VIM	AIPL1	TXNDC15	SLC16A12	RPS26	PRPF6	TMEM107	SPEN	TUB	MIPEP	DLL4	SKI	MYH9	STX16	HDAC8	MT-CO3	SUMF1	NHP2	TAP2	GTF2IRD1	OCLN	MINPP1	NHS	HLA-DRB1	IL2RA	NOP10	PTH	MMP1	TINF2	RPL15	BCS1L	FAM50A	RPL11	RTEL1	SBF2	MRPS28	MAB21L2	KIAA1549	LAMB1	SEC31A	TMEM70	RPL27	KRT25	NDUFB11	GTPBP2	NEK2	USH1C	PLCG2	HLA-A	RS1	LOXL1	MPLKIP	LMX1B	LUZP1	TMEM237	DYRK1A	RD3	EED	ARPC4	RFC2	FANCD2	RPS10	LRP2	CRYBB3	TBL2	GEMIN4	PTPN2	COL9A3	BLTP1	GTF2I	TUBB4B	DYNC2I2	CDHR1	AGA	KCNAB2	UNC45B	RALGAPA1	PIK3C2A	NAGA	ARL6	STX1A	RPL5	PAX2	CSPP1	DNAJC30	ESCO2	IFT88	MAFA	MT-TE	CEP57	RERE	GNPAT	ASPH	AASS	HTRA2	CNGB1	USF3	OTX2	MFRP	CAV1	TELO2	HARS1	IL12A	XPA	NEK9	RBM8A	NPHP4	GJB4	TARS1	TSR2	SOX2	PYCR1	SMC3	PRIM1	FOXC2	LRP4	MTAP	POLR1B	INTS1	SHROOM4	TMEM231	MT-TQ	CCR1	SLX4	CA8	CRYGS	NIPBL	KDSR	PLOD3	GTF2IRD2	LIMK1	FANCL	OPA1	MT-ND1	TMEM127	DHX38	TMEM270	COPB1	RPL35	INVS	SIN3A	POLG2	TBR1	UBAC2	KRT81	PSMC3	KLLN	CRYBA1	ADNP	NPHP1	RAD51	PXDN	FIBP	NAXD	UFD1	ACADS	EPHA2
HP_DEVELOPMENTAL_CATARACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVELOPMENTAL_CATARACT	VHL	GCNT2	COL4A5	PHGDH	ERCC3	MAFA	ELN	HSPG2	SDHD	MAF	MT-CYB	MT-ND6	CRYGB	ATOH7	RAB3GAP1	ETFA	RAB18	RPS26	ALDH18A1	KCTD1	RPL26	IDH1	GFER	CAV1	TELO2	ERCC6	MT-TC	RPS24	OCRL	MAX	LSS	GATA1	FBLN5	MT-TL1	PITX3	COL18A1	MIR204	PNPT1	SLC33A1	RET	FAM111A	TARS1	TBC1D20	MT-CO3	RPS27	CRYBA2	TSR2	AGK	ADA2	PEX5	MT-TF	CRYAA	RPS28	NHS	RECQL4	PIGY	IARS2	CARS1	BFSP2	ABCA2	POMT1	RPS19	HMX1	RPL15	PEX11B	COL4A1	GTF2H5	RPL11	NUP188	MIP	ERCC8	DPAGT1	RPS15A	MT-CO1	SDHB	RPS29	RPS20	RAB3GAP2	MT-TQ	CRYAB	SEC31A	ERCC2	VPS4A	BEST1	NDP	RNF113A	RPL27	KMT2C	FAR1	RPL35A	ATAD3A	SIPA1L3	UBE2A	RIC1	PEX7	ETFDH	MT-TV	MT-CO2	KANSL1	BCOR	MPLKIP	MT-ND5	HYCC1	RPS17	LONP1	ERCC1	CRYBB1	MT-ND1	PAX6	ARPC4	FZD4	SIL1	TMEM127	RPS10	MT-TK	GTF2E2	CRYBB3	MSMO1	ETFB	CRYGD	KIF1B	RPL35	MT-TS2	MT-TW	CRYBB2	MED25	DOCK6	PIK3C2A	PSMC3	ANAPC1	EHMT1	KCNA4	CRYBA1	TKT	CTDP1	RPS7	NEU1	ENTPD1	RPL18	LMNA	EPG5	RPL31	CRYGC	EPHA2	RPL5
HP_PROPTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROPTOSIS	LRP2	TBX1	PCLO	SMARCE1	ITCH	CTSK	FANCB	SH3BP2	HSPG2	WDR4	IL11RA	FGFR2	UBE2T	COL3A1	BGN	B3GALT6	LMNA	FGFR1	ZNF699	COL1A1	EXOC6B	COL11A1	IPO8	NKX2-5	ZMPSTE24	KCNJ6	RNU4ATAC	CANT1	CBL	EXTL3	CTBP1	RRAS2	DVL3	FZD2	XYLT1	DPYSL5	COL11A2	ASXL1	CDK5RAP2	NSD2	TCF12	SHPK	ABCA12	DHCR7	INPPL1	TGFB1	SEC24D	NKX2-6	TCTN3	WNT5A	POLD1	FGFRL1	COL2A1	NDE1	PTPN11	SMO	MMP2	MYOD1	AFF4	B4GALT7	OSTM1	KAT6A	PLK4	RRAS	MRAS	IRF4	SKI	CPLX1	TAF1	RIT1	LEMD2	NFIX	FGFR3	PDGFB	JAG1	PALB2	CTLA4	ADAMTS10	TWIST1	MTX2	CITED2	CREBBP	ASPM	BRCA2	ASXL2	IFT81	DVL1	TSHR	ELMO2	PLCB3	SPECC1L	PRTN3	FAM20C	LETM1	PSMB8	BAP1	MAFB	GDF1	STAG2	AKT1	HLA-DPB1	BPNT2	PTH1R	ATXN3	RAD51C	FANCD2	HNRNPK	EFEMP2	SKIC3	ERF	TGFB3	KRAS	NF2	IGF2	POLR3A	CDH11	MAD2L2	MUSK	SLC39A13	FANCA	FANCI	PIGG	CLP1	GJA5	GATA6	BRIP1	CRTAP	FIG4	GATA5	PHGDH	FGF9	GATA4	NELFA	RFWD3	KCNQ1	XRCC2	P4HB	MAF	ROR2	FBN1	ALPL	AUTS2	MAN2B1	PEPD	ESCO2	SHH	SETBP1	SPTBN1	PIGB	PLAGL1	SLC39A14	NIPBL	SNRPN	NRAS	PIK3CA	TBC1D24	TERT	RTTN	MITF	ZIC1	NBAS	CDC45	PPP2CA	SMARCB1	SLC29A3	INSR	RECQL4	CACNA1C	COG4	CDKN1C	RAC3	PRUNE1	SOS2	BRCA1	AP3B2	CSGALNACT1	NOTCH3	FLI1	ZFPM2	FOXC1	FLNA	FOCAD	PTEN	CDON	SMS	CHST3	P3H1	SPRED2	FN1	FLT4	LTBP1	FANCF	PDGFRB	MTHFR	LRP4	HERC1	CKAP2L	FLNB	SOST	RASA2	TNFRSF11A	SLC25A24	VAC14	RAF1	POR	POLR3GL	SIX3	BANF1	PARS2	PKDCC	GNPTAB	POLA1	SH3PXD2B	PSAT1	EP300	LZTR1	WASF1	CYP27A1	FANCM	TRAF7	SUFU	SMAD3	SLX4	VANGL2	NAA10	PLOD3	DYNC1I2	ERCC4	FANCL	TMEM53	CRIPT	SERPINH1	ALG9	KDR	NXN	NF1	THRB	NLRP3	DDR2	HYMAI	MYD88	HLA-DPA1	SIN3A	BRAF	B3GAT3	FANCE	SOX9	FANCG	TGFBR2	APC	PTPN22	KCNQ1OT1	SOS1	RAD51	RSPRY1	FANCC	TGFBR1
HP_ALACRIMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALACRIMA	TRAPPC11	SLC12A2	SOX10	MADD	ELP1	GMPPA	NGLY1	DST	SETBP1	AAAS	CLDN10	PIGQ	FGFR2	PAX1
HP_SUBCAPSULAR_CATARACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBCAPSULAR_CATARACT	LRAT	ZNF408	LRP5	FOXC1	ALMS1	LCA5	RPE65	IMPG2	FOXE3	PDE6A	EYS	OPA3	TULP1	ARL2BP	CNBP	OFD1	SPRTN	REEP6	ABHD12	GJA8	XYLT2	TONSL	WT1	PRPF8	OAT	ADAMTS18	UNC45B	NF2	RBP3	PAX6	SCAPER	CYP1B1	ARL3	FZD4	IMPDH1	SPATA7	CHMP4B	POLR3GL	ABHD5	IDH3B	PITX2
HP_ABNORMALITY_IRIS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_IRIS_MORPHOLOGY	STIM1	BCOR	LRP2	ADGRV1	SDHB	PNPLA6	AP3D1	SEMA3E	FANCB	VPS37D	PRPH2	ZEB1	HS2ST1	FOXE3	UBE2T	OCA2	CYP1B1	RPGRIP1	VHL	ATOH7	FBN1	CASZ1	B9D2	PITX2	SOX10	RAB27A	SALL4	TGFB2	KRAS	FOXC1	PRKAR1A	KRT71	FKRP	NSD2	MAGEL2	COL18A1	HPS6	CRYBB1	DHCR7	HSPG2	ARSG	MITF	AAAS	SH3TC2	MYO7A	CBY1	MAT2A	CLRN1	DISP1	FH	ESPN	CRYAA	ZEB2	POMK	TMEM237	ALG3	MAX	HMX1	CSPP1	IGBP1	DAG1	TCTN1	MIR184	PALB2	MED12L	BLOC1S6	CEP290	POMT1	PAX6	GJA1	YAP1	MLXIPL	BRCA2	LOX	CHN1	NDP	SMO	TMEM67	TGFBR1	HYLS1	TMEM218	PTCH1	SHH	PRDM16	GMPPA	HPS1	MYOC	MKS1	GMPPB	LYST	C12orf57	FKBP6	OVOL2	CC2D2A	RAD51C	UBE3A	PAX3	LARGE1	POMGNT1	HEY2	PDPN	BLOC1S3	MAD2L2	CEP41	CHD7	FANCA	TRIM28	COL4A1	MMP14	ADAMTS17	PMP22	TRIP13	WT1	ALG2	SUFU	POMGNT2	CLIP2	USH1G	PIK3R1	BRIP1	KANSL1	SDHA	CRYBA4	DLX5	RFWD3	MAFB	NDN	SNAI2	TGFBR2	WNT10B	RXYLT1	DLX6	POMT2	HCCS	CPAMD8	GNA11	ITPR1	ERF	LETM1	CPLX1	SNORD115-1	RERE	SPTBN1	TFAP2A	SIX6	GABRD	MYO5A	PWRN1	TMEM216	SLC24A5	TMEM127	KCTD1	BDNF	IGF1R	FBXW4	MDH2	NAA10	HERC2	POLR1D	TCTN3	TCOF1	SF3B1	MYH11	PWAR1	FGFR1	POGZ	ZIC2	MLPH	MIR204	KRT74	BRCA1	TYR	NOTCH3	ACTB	ZNF423	C1QTNF5	ALX3	SLC25A11	CENPF	CEP120	PEX5	RB1	SALL2	SIX3	WNT3	ADAMTSL1	KIF1B	B3GLCT	MMP23B	SMCHD1	BAZ1B	ELN	FKTN	CCDC22	AKT1	SNRPN	NRAS	WHRN	NOTCH2	PCDH15	B4GAT1	RPGRIP1L	MC1R	GNAQ	FLI1	PEX16	FOXH1	ATP6V1A	EIF4H	COX7B	GDF3	ERCC4	GPR143	TCTN2	HRAS	EDN3	TENM3	MFAP5	CEP78	ADAMTSL4	RHOA	LAMB2	RLIM	COL8A2	OCRL	LIPH	PRKG1	PRR12	LDHD	PUF60	GRHL2	ELP1	TP63	KIAA0586	DACT1	FANCC	DLST	KATNIP	ELP4	MT-TS2	TGIF1	BAP1	COL3A1	NF1	MPDZ	MKRN3	TXNDC15	VSX2	KIFBP	POLR1C	TMEM107	TRIM44	CRPPA	SPEN	CTBP1	MTSS2	ACTA2	AHI1	METTL27	INPP5E	RET	PIBF1	ROR1	SKI	ARMC9	FGF3	COQ2	H19	BMP4	FGFRL1	TONSL	KIT	BLOC1S5	SEM1	PEX3	HPS4	RBP4	GTF2IRD1	IMPG1	NODAL	XYLT2	PEX1	GZF1	SRD5A3	EDNRB	AP3B1	MAPK1	ACTG1	KITLG	MAB21L2	PEX6	BCL7B	GFAP	FGFR2	VPS13B	CRYGC	KRT25	NDUFB11	PEX19	CDH23	NCF1	BTRC	USH1C	PTCH2	LOXL1	CHRDL1	DIS3L2	LMX1B	LUZP1	TBX22	FAM111A	GJA8	DYRK1A	MBTPS2	RFC2	FZD4	CRYGD	FANCD2	POU6F2	DDX6	TBL2	GATA1	CPLANE1	PEX13	IMPG2	PORCN	TRIM37	ARL13B	WDR73	SMAD2	SOS1	GTF2I	ATP10A	FANCI	LPAR6	PIGG	ERCC6	KCNAB2	PCYT1A	B9D1	SDHD	DTNBP1	PHOX2B	PEX2	NELFA	DLL1	EPG5	FGF8	TMEM231	XRCC2	HHAT	REST	STX1A	SLC45A2	DNAJC30	NPAP1	TBX2	MPZ	ASPH	EPS15L1	MYLK	PEX11B	SNORD116-1	HARS1	PRKCZ	PEX12	TOGARAM1	B3GALNT2	GLI2	FLNA	WASHC5	SDHC	PTEN	GPC3	PEX10	FANCF	POLR1B	BUD23	TYRP1	LRP5	DCT	PDE4D	MMP2	CEP104	CYSLTR2	CIB2	HPS5	MAF	SMAD4	VSX1	NOD2	ARL6IP6	NPHP1	TRAPPC11	TGFB3	ARL3	PEX14	TMEM138	FANCM	TDGF1	SLX4	UBE4B	BEST1	EFEMP1	GTF2IRD2	LIMK1	FANCL	ANK1	CDON	USH2A	TINF2	TMEM270	LTBP2	CRYBB2	SIN3A	TBR1	MSH6	GAS1	FANCE	FANCG	SOX2	PEX26	SALL1	PDZD7	ADNP	RAD51	RSPO2	SDHAF2	SMAD3
HP_ANIRIDIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANIRIDIA	PAX6	ITPR1	SDHB	ELP4	PITX2	CHN1	BTRC	VHL	EPS15L1	WT1	DIS3L2	TMEM127	FBXW4	MDH2	SALL4	TRIM44	FAM111A	FOXC1	RET	POU6F2	FOXE3	NF1	H19	LDHD	FH	SDHC	GPC3	SEM1	TRIM28	SLC25A11	TRIP13	TP63	KIF1B	BRCA2	SDHD	MAX	SDHA	PORCN	DLX5	MAFB	REST	WNT10B	DLST	SDHAF2	DLX6
HP_LONG_EYELASHES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_EYELASHES	BRD4	FGF5	RAD21	COX5A	MGAT2	PNPLA6	CTCF	DVL1	BMP1	CDC42BPB	KCNK4	CAMTA1	PPM1B	NIPBL	KDM6A	KMT2D	ZNF699	EP300	DENND5A	GNB2	HID1	CSF1R	VPS33A	ABCC9	H4C5	DOCK7	SMARCE1	DPYD	ATP6V1B2	DVL3	ARHGEF2	SOX11	FRMD4A	MBD5	TAF6	FZD2	STAG1	RAC3	KCNH1	SPOP	FBN1	VPS51	CNOT2	HDAC8	PREPL	EGFR	BRCA1	ARID1B	PACS1	AP3B2	MADD	KCNK9	SMARCA2	WNT5A	PUF60	KCNN3	ORC1	DDB1	SMC3	SLC35C1	TENT5A	KCNJ8	AFF4	LTBP1	SMARCA4	SHOC2	CAMKMT	SMC1A	TAF1	OTUD6B	HSPG2	NOTCH2	CHMP1A	CREBBP	NRCAM	CTDP1	MAB21L2	SLC3A1	SEC31A	ASXL2	RPS23	VPS13B	GJA5	MOGS	RUSC2	FBXO11	SHANK3	SLC6A9	NAA10	HPDL	MAN1B1	ASXL3	NXN	SLC25A24	GJA8	MED27	KMT2A	EXOC8	TMCO1	ZFHX4	SMARCC2	ARID1A	SRCAP	RNF2	PRR12	MAB21L1	CLP1	SLC30A9	SMARCB1	BICRA	TBX4	SPEN	VARS1	MAF	ROR2	COL25A1	TIMM50	SATB2	LTBP3
HP_ANOPHTHALMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANOPHTHALMIA	MAB21L2	CSPP1	POMT1	FANCB	FRAS1	SEMA3E	B4GAT1	GRIP1	RARB	SIX6	FREM1	RPGRIP1	CEP290	TXNDC15	BCOR	POMT2	B9D2	OTX2	CHD7	TCTN2	SHH	BMP4	NAA10	NDUFB11	ERCC6	DOCK7	TCTN3	ERCC1	TMEM107	CRPPA	HYLS1	TMEM237	KIF11	TMEM216	FKRP	LARGE1	RAX	B3GALNT2	GLI2	TMEM67	POMGNT1	COX7B	SOX2	SMOC1	KIF7	COL4A1	HCCS	RBP4	ALDH1A3	ERCC4	B9D1	SF3B2	POMK	ERCC8	POMGNT2	CC2D2A	MKS1	TFAP2A	DAG1	PORCN	SMCHD1	STRA6	TCTN1	FREM2	NUAK2	TMEM231	RXYLT1	RPGRIP1L	FKTN
HP_PROGRESSIVE_VISUAL_LOSS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_VISUAL_LOSS	LRP2	PHYH	CFH	SMARCE1	CLN8	IFT140	SH3BP2	MT-ND5	OPA1	PAK2	MT-ND2	DNM1L	AGTPBP1	VRK1	PEX7	COL18A1	PIK3CA	TPP1	MT-ND6	TERT	APOE	C19orf12	SMARCB1	TGFBI	EPRS1	CHM	DNAJC30	SOST	CYP4V2	GUCA1A	UCHL1	EXOSC3	CFI	MERTK	MFN2	NPHP4	ARL3	MT-ND4	WDR19	BAP1	SLC25A46	DCN	NPHP3	RDH11	NDUFS2	TREX1	SMO	PPT1	RHO	RAX2	COL17A1	KARS1	AIP	MT-CO1	MT-ND1	CLN5	ATP1A3	PDGFB	TNFRSF11A	RP1L1	GUCY2D	PRPH2	EXOSC8	RLBP1	CFHR1	CLN6	ATXN7	CDH23	EXOSC9	RS1	CARS2	PCYT1A	MEN1	HMCN1	TRAF7	CLN3	SUFU	PRPS1	SON	OAT	CTNNB1	MT-CYB	AKT1	FA2H	BRAF	SDCCAG8	ZNF408	KIAA1549	CFHR3	NF1	MT-CO3	MT-ATP6	NEU1	NF2	CEP290	INVS	TRIM44	RDH5	MTTP	SEMA4A	TRAF3IP1	CEP164	MT-ND4L	PNPLA6	NPHP1	CDHR1	IQCB1	CFAP418
HP_ABNORMAL_CHORIORETINAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CHORIORETINAL_MORPHOLOGY	VPS35L	BCOR	FSCN2	LCA5	SEMA3E	DPP6	ZEB1	NDE1	RPGRIP1	TEAD1	NAA10	TXNDC15	B9D2	TCTN2	ZNF408	NDUFB11	MT-TK	TMEM107	SALL4	CRPPA	FZD4	INPP5E	OAT	FKRP	VCAN	PAX6	GUCY2D	SLC25A15	COL18A1	MAGEL2	BMP4	COX7B	EFEMP1	RP2	HCCS	PEX3	TMEM67	WAC	POMK	HADHA	RNF216	HMX1	IFNG	GZF1	DAG1	CFH	JAG1	TCTN1	VPS33A	CTNNB1	CC2D2A	TIMP3	PRPH2	YAP1	CEP290	POMT1	PEX6	ZEB2	BEST1	VPS13B	PEX19	CHN1	NDP	TUBGCP4	HLA-A	POMT2	CYP4V2	KIF11	SHH	TBX22	PEX1	C12orf57	OVOL2	TMEM237	TMEM216	LARGE1	RNU7-1	PEX13	PORCN	POMGNT1	CRX	COL4A1	WT1	B9D1	POMGNT2	SAG	PNPLA6	TMEM231	MAFB	HLA-DRB1	RXYLT1	PAX2	UBE3B	CSPP1	DHX16	RERE	SPTBN1	MT-TE	SIX6	PEX11B	ADAMTS18	ROM1	CHD7	TCTN3	PEX12	GUCA1A	MT-TL1	CHM	SALL1	B3GALNT2	ACVRL1	WASHC5	TSPAN12	ZNF423	PTEN	LRP5	C1QTNF5	CLCN2	RBP4	PEX5	PEX10	DCT	TSC1	POU3F4	MKS1	SPATA7	PEX2	VSX1	SIX3	FKTN	CCDC22	AKT1	RPE65	B4GAT1	MICOS13	PEX14	TMEM138	RPGRIP1L	ACTB	CASK	PEX16	NRL	GDF3	TSC2	CRB1	HHAT	COL8A2	OCRL	LRAT	EYS	CFI	PEX26	IKBKG	SIM1	CLDN19	DACT1	TUBGCP6	GRHL2
HP_CHORIORETINAL_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHORIORETINAL_ATROPHY	GUCY2D	FSCN2	LCA5	RPE65	NDE1	PRPH2	TEAD1	NRL	SLC25A15	OAT	ROM1	CYP4V2	CRB1	ZNF408	FZD4	GUCA1A	VCAN	PNPLA6	CHM	RNU7-1	TIMP3	COL18A1	LRAT	ACVRL1	EFEMP1	CRX	TSPAN12	EYS	LRP5	C1QTNF5	CLCN2	CFI	HADHA	HMX1	SAG	CFH	JAG1	SPATA7	CTNNB1	NDP	PAX2
HP_ABNORMAL_EYEBROW_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EYEBROW_MORPHOLOGY	MN1	GABRA3	SEMA3E	ODC1	TMCO1	CTCF	GJB2	SPATA5	CPLANE1	HECW2	ALX1	ZBTB20	OTX2	EDAR	GNE	ZNF699	EP300	PURA	PIGY	SMARCB1	RNU4ATAC	ASXL3	TERT	ABCA5	RMRP	EHMT1	GNPTAB	FAR1	KRT71	PGAP1	OCA2	MEGF8	SPOP	NSD2	RNF113A	NAGLU	MITF	COX7B	MED13	CHD1	WDR26	GJB6	KCNN3	CHSY1	MBTPS2	ZEB2	ANKRD11	WAC	IARS2	CCDC8	TMEM237	AXIN2	OBSL1	LARP7	PTPRF	CSPP1	TAF1	ARID1B	VPS33A	ZNF407	ZBTB18	TWIST2	CREBBP	NRCAM	POLR3A	STAG1	LZTR1	TOPORS	SMCHD1	TP63	TRPS1	LIPH	RUSC2	DPH1	TMEM218	RIN2	CC2D2A	FLII	KATNB1	NMNAT1	TUBGCP2	KMT2A	DPH5	SULT2B1	KDM5C	ARID1A	MKS1	TRIO	EBF3	RAI1	BCAS3	SGSH	SUFU	RECQL4	CLP1	AEBP1	CDH2	COLEC11	MAP1B	USB1	SPEN	TRRAP	PEX6	SDR9C7	SETD1B	LIPN	MAN2B1	PPP1CB	IL1RAPL1	SLC1A3	FGFR1	RAD21	SOX10	LETM1	MAF	CUL4B	KRT17	ERMARD	DHX30	KDM6A	GABRD	STXBP1	LMNA	KLF13	EDA2R	LAS1L	NBAS	RIPK4	IGF1R	HID1	UBR7	HDAC4	MEIS2	ABCC9	HNRNPK	FUCA1	KMT2D	ATP6V1B2	FRMD4A	SOX18	FREM1	MARS1	TCF4	KRT74	UBE3B	APCDD1	ACTB	SLC9A6	ZNF423	ABCA12	CDH11	TTC5	RAG1	ANTXR1	SLC6A17	WDR35	CTU2	VPS13B	MAPK8IP3	TRMT10A	VAC14	SLC35A2	NDST1	RPS23	NOTCH2	ATAD3A	KNL1	PHF6	RPGRIP1L	STRADA	SPINK5	FLI1	SON	SHANK3	H4C11	STAG2	RBL2	TTI2	TTC8	TBL1XR1	SMC1A	TCTN2	SOX6	C12orf57	GJA8	PIGO	SOX11	ZNF462	FAS	FAM149B1	KCNH1	SCAPER	PRR12	MASP1	CEP290	MAGEL2	HNRNPH1	WASHC4	TRAPPC9	RAF1	ASPRV1	PHIP	ESCO2	VPS35L	BRD4	HBA1	KATNIP	MGAT2	KAT5	KCNK4	SLC39A4	GPRASP2	SHOC2	COL3A1	KIFBP	CDH3	KMT5B	NANS	BCOR	CTBP1	AMMECR1	INPP5E	MBD5	SATB1	ARMC9	TCTN3	WNT4	HR	FGFRL1	CCDC47	EDA	SHMT2	SMPD4	XYLT2	CPLX1	OTUD6B	MAP2K2	BCL11B	SNAI2	CHMP1A	ZNF711	RPL21	PPP1R21	MAPKAPK5	CFAP418	FAM20C	BBS1	CRKL	FBXO31	PPP1R15B	RERE	DLX4	SLC45A1	PIGV	SIN3A	SDCCAG8	SMAD4	RAC1	COL11A1	MED27	KDM1A	COG6	UBE2A	PRRX1	SMARCC2	NECTIN1	CWF19L1	HDAC8	SOS1	OGT	LPAR6	PIGG	MLXIPL	BPTF	DEAF1	UGP2	PIGN	BICRA	MAPK1	CHD5	PQBP1	HGSNAT	TMEM67	TMEM231	MYO5A	HEATR3	NSUN2	TTC7A	AARS1	PCNT	ADAM17	TRIM32	PDCD6IP	ACER3	SLC29A3	PTPN22	KIT	PRKCZ	BRAF	SLC1A4	TOGARAM1	CAMK2G	SETD5	TAF6	SOX4	B9D2	MKKS	H3-3A	DNMT3A	RAG2	PUF60	SF3B4	SLC35C1	ATR	KCNJ8	TRMT1	NFIX	TYRP1	SETBP1	PGAP2	CERT1	CEP104	ALOXE3	SLC25A24	NUP188	NIPAL4	TYMS	BANF1	NPHP1	AHI1	CWC27	GJA5	TMEM138	LMBRD2	NSD1	CACNA1A	UBE4B	MESD	PIGW	LEMD3	KCNMA1	PPP2R3C	TMEM216	NAA10	TBCK	DPF2	SNRPE	KRT83	RNF2	PEX1	IDUA	B3GAT3	FOXP2	GAD1	MAP2K1	ARX	ANAPC1	ZSWIM6	SMS	RPS6KA3	MAP3K7	COX5A	BBIP1	MEF2C	PNPLA6	SZT2	AASS	POLA1	FBXL4	CUL7	HNRNPU	UGDH	CASZ1	KIAA0753	FBXO28	CEP19	KRAS	SMARCE1	PIGK	ASXL1	COL18A1	SPECC1L	TRIM8	ARL3	HSPG2	DSG4	CBY1	BBS5	SMARCA4	SOS2	TGDS	PHF8	FBN1	LIG4	EXT1	ALOX12B	ZMPSTE24	PARN	KAT6A	BMP2	EDARADD	DCAF17	MED12L	MTX2	ASPM	ASXL2	KMT2C	HSPA9	PSMD12	YY1	DSP	RALA	EDN3	HYLS1	PRDM16	PACS1	MAN1B1	PAX3	CTC1	FOXL2	GJA1	KIF7	PDPN	CEP41	CDC42	WNT10B	TGM1	NPM1	PRKG2	EPS8L3	FIG4	ACTG1	SMARCD1	PDE6D	ZIC2	BBS2	CCNK	CDKL5	KDM4B	EBP	TMEM147	SPTBN1	NUDT2	MED12	ADA	CHD7	NF1	GNB2	CDC45	WRAP53	CYFIP2	ZMYND11	COLEC10	KRT86	SPRED2	CNOT2	TASP1	KCNK9	CDK10	KRT85	SCARF2	DDB1	CEP120	LTBP1	CHST3	UQCC2	TOE1	NFIB	CDK13	MMP23B	TCTN1	ATP1A2	AFF4	LSS	IFT27	MC1R	ERLIN2	HRURF	XYLT1	ALX4	ST14	HBA2	RNF125	SMARCA2	GUSB	BRF1	BBS4	AUTS2	KANK2	UROS	COL1A2	CDK19	GPR101	KIAA0586	TBX4	TERC	EIF5A	ADAT3	CYP4F22	ITGA3	CLCN3	EDNRB	AFF3	HIVEP2	BBS10	BBS12	IL7R	RNU12	DSC3	ELN	PIBF1	SKI	PI4KA	LZTFL1	AIP	PSMC1	TBX3	THUMPD1	ATP1A3	SUMF1	NHP2	H4C9	GNS	KREMEN1	NOP10	CLCN6	TMEM94	TINF2	IL2RG	CHRNA7	RTEL1	ECEL1	TRAPPC10	LRPPRC	MAPRE2	WDPCP	KRT25	OFD1	LRP1	GTPBP2	AIFM1	IQSEC2	TBCD	LUZP1	DDX6	PKP1	PACS2	PUS7	ARL13B	NEPRO	DOCK7	EMC10	FHL1	AHSG	DOLK	KCNAB2	TFE3	RALGAPA1	PRKD1	SIAH1	WNT10A	NELFA	RBM10	CSNK2A1	LTBP3	JUP	ZNF292	CDC42BPB	BCR	NIPBL	PCDHGC4	H4C5	HMGA2	LMX1B	IFT74	FGF3	B4GALT7	ITGB6	MADD	DKC1	NRAS	MAN2C1	CDON	SMC3	SYT1	ASH1L	HERC1	ARL6	DNAJC21	EGFR	INTS1	IRX5	SMOC1	TFAP2B	ARID2	PYCR2	FRAS1	IFT172	CLDN1	DCLRE1C	PLXNA1	BBS7	PGAP3	BBS9	MED13L	CRIPT	SIM1	WLS	RET	MAB21L1	APTX	MED25	KRT81	PIGS	PSMC3	RPS28	HEPHL1	B9D1	PIGL	TALDO1
HP_EPICANTHUS_INVERSUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPICANTHUS_INVERSUS	FOXL2	ZFHX4	HUWE1	PPP1R12A	COLEC10	MKS1	COLEC11	CDC42BPB	EBF3	MASP1	SIX2	PEX6	DDB1	KAT6B	COL25A1
HP_ABNORMALITY_OF_REFRACTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_REFRACTION	LRP2	ADGRV1	PRIMPOL	COL2A1	VPS37D	HS6ST2	CTCF	SDHD	RPGRIP1	OCA2	TEAD1	CNNM4	B3GALNT2	PIGY	BMP4	SMARCB1	PTPN11	SETD2	NDP	VCAN	SEC23B	AGBL5	EDEM3	ARSG	FBXW11	COX7B	P3H2	MYO7A	AGK	SLC39A8	GRK1	COL17A1	MBTPS2	ZEB2	WAC	B4GALT7	GNPTAB	HADHA	SKI	HNRNPR	ARID1B	NSD1	PALB2	DSE	CFAP418	HK1	POLR3A	MFRP	ZNF408	NPR3	BRCA2	POMT1	KIAA0753	PRDM5	GPR143	GLE1	CSTA	ABCC6	COL4A3	ERCC8	POMT2	RIN2	KIF11	SCUBE3	PPP2R5D	TCF20	GMPPB	IGF1	FKBP6	FLII	ATAD3A	NMNAT1	DPH5	HSPG2	POMGNT1	KDM5C	CSPP1	ARID1A	BAP1	MAD2L2	PIK3CA	KCNV2	EBF3	VSX1	SOX5	TCTN2	RAI1	ADAMTS17	RPGR	EIF2S3	RLBP1	COL4A5	USH1G	PIK3R1	BRIP1	LARGE1	EFL1	ERBB3	SLC6A6	PTEN	FBN1	BEST1	MAN2B1	RAD21	SOX10	CLDN19	EXOSC2	GPAA1	SNORD115-1	CAMTA1	ERMARD	PAK2	GABRD	STXBP1	ADNP	GNAT2	NBAS	SLC25A24	GALNT2	CHAMP1	SF3B1	LRIT3	CTNNB1	MYO1H	TCF4	UBE3B	KIDINS220	GNA11	MADD	COL9A1	FANCI	ADAMTSL1	FKRP	BFSP2	SRCAP	PRMT7	TNPO2	COL11A1	COL4A1	VPS13B	MAPK8IP3	SPATA7	POLR3GL	ASXL1	BAZ1B	CCDC28B	PAX2	IFT122	ZMIZ1	NOTCH2	PCDH15	CASK	PIGG	SON	ATP6V1A	EIF4H	SHANK3	FKTN	C12orf57	ROBO3	DYRK1A	RHOA	GJA8	PIGO	FAM111A	SOX11	LRRC32	LAMA1	KCNH1	PRR12	LOXL3	FBXW7	MAGEL2	ELP1	TRAPPC11	FLCN	ACSL4	SYNE1	SNRPN	FANCC	GRHL2	PHIP	CNOT3	P4HTM	RNU4ATAC	BRD4	PPM1D	CBS	COL9A2	KAT5	MT-TS2	COL9A3	CENPT	B3GALT6	SLC24A1	MKRN3	TUB	NYX	CC2D2A	IFT52	ERCC6	METTL27	MBD5	SATB1	GNAT1	KMT2B	MAG	CCDC47	H4C3	SHOC2	AHDC1	XYLT2	CHD4	DAG1	PMM2	GTF2H5	JAG1	MAP2K2	BCL11B	DPAGT1	EXOSC5	ZNF644	CHMP1A	YME1L1	BCL7B	CREBBP	RS1	PPP1R21	CRYGC	CDH23	GPR179	NCF1	POLR3B	CHRDL1	SLC4A11	GNB3	SMAD4	ARCN1	WDR19	CRYGD	RECQL4	HACE1	TRPV4	POLR1C	HDAC8	OGT	OPTN	TRPM1	IFIH1	SMG8	MLXIPL	TAOK1	HERC2	SMARCC2	GLRA2	TGFBI	THOC6	TUBB4B	BICRA	PQBP1	XRCC2	POC1B	CNGA3	HNRNPK	TBC1D24	ERCC3	NSUN2	NOG	CPSF1	B4GALT1	C1QBP	ZNF469	MYO5A	TULP1	CHM	TFAP2B	AEBP1	PRKCZ	BRAF	CYP4V2	CAMK2G	SETD5	SAG	SOX4	CRB1	RHO	ATF6	RPL10	FANCF	COL4A6	CARS1	BUD23	NFIX	LAMB2	SETBP1	NEK1	PGAP2	CYSLTR2	CIB2	TMEM63A	MAP2K1	COL4A4	CHD3	PPP1R12A	CLDN11	RNF113A	GJA5	POMK	CHST14	LMBRD2	FANCM	UBE4B	PIGW	IFT43	MAF	TIMM8A	ATP6V0A2	MSX2	DPF2	AKT1	WDR35	COL3A1	CABP4	PIGU	CACNA1F	USP9X	RNF2	EMC1	CRYBB2	IQSEC2	B3GAT3	FANCE	AMMECR1	NT5C2	FANCG	BBS1	PDZD7	MC1R	SMS	NONO	COL5A1	CNGB3	PDZD8	ALDH1A3	LCA5	AP3D1	IARS2	CTSK	FANCB	HTT	ZEB1	UBE2T	DEAF1	CYP1B1	TKFC	FLNA	CASZ1	IPO8	TTLL5	CANT1	KRAS	DPYD	PLOD1	OAT	ENPP1	ELOVL4	COL18A1	TRNT1	CRYBB1	TBC1D2B	PBX1	TBC1D7	CLRN1	SMARCA4	PDE6C	ESPN	LIG4	TBC1D23	KAT6A	SMC1A	TAF1	TSPAN7	KDM5B	MIR184	ADAMTS10	MED12L	PAX6	GJA1	KMT2C	SLC6A8	ADGRL1	PSMD12	AP1G1	YY1	PRDM16	MYOC	PACS1	OVOL2	MAN1B1	KIAA0586	HDAC4	RAD51C	PIEZO2	ASXL3	TBCE	PCNT	GTF2E2	APC2	FOXL2	ZFHX4	BBS9	ADAMTS2	PDPN	BLOC1S3	FOXP1	FANCA	AP1B1	PDE6H	GATAD2B	PDE4D	SLC2A10	SCO2	ATP6V1B2	CLIP2	KANSL1	CRYBA4	RFWD3	SMARCD1	MID1	ZNF148	H1-4	VPS50	HCCS	SOX9	PRKAR1B	TWIST2	CSGALNACT1	RERE	SDHB	GLRB	PWRN1	MED12	GNB2	CDC45	EPRS1	PWAR1	MARK3	RP1	ARHGEF2	POGZ	KRT5	DOHH	BRCA1	ERCC4	TASP1	SLC12A6	CRYBA2	OTX2	KERA	B3GLCT	PIGT	FGFR3	MMP23B	TMEM98	GRM6	BPTF	RMRP	AFF4	ELN	ANKRD11	KIFBP	CDK8	ATP6AP1	TYR	PITX2	WHRN	GNAQ	ALDH3A2	WDR26	HUWE1	MAP3K7	ZSWIM6	CEP78	RAX	SMARCE1	COL8A2	TLK2	LRAT	TTC8	PDE6B	PUF60	KCNE5	PRSS56	COL1A2	EHMT1	KRT14	VARS1	CCNQ	ANTXR1	COL25A1	SDHC	SMARCAL1	CLCN3	GJC2	CHST6	HIVEP2	LTBP2	CLDN16	FGD1	SOX2	SPEN	RAD50	PIGV	UCHL1	THG1L	ALDH18A1	SLITRK6	RP2	RORA	OFD1	GTF2IRD1	COL11A2	TMEM94	OPN1LW	GZF1	PRPS1	FBN2	PIGQ	GRIA1	NDUFB11	FKBP14	COL12A1	GTPBP2	USH1C	FBXO11	MPLKIP	RAB11B	ZC4H2	LUZP1	PURA	EED	ARPC4	RFC2	FANCD2	DDX6	TBL2	NEUROD2	TRIM37	PACS2	UBE3A	FGFR2	OPN1MW	RRAS2	BLTP1	ACOX1	GTF2I	SLC25A4	KCNAB2	TFE3	PCYT1A	SIX6	ZMYM2	TFAP2A	RBM10	XYLT1	STX1A	TGM5	DNAJC30	NPAP1	P4HA2	ASPH	ATP6V1E1	NIPBL	USF3	KAT8	GNPTG	H4C5	IFT172	SNORD116-1	SLC35A2	HARS1	CACNA1G	LMX1B	FGF3	ARL6	TARS1	NRAS	CHST3	SMC3	FN1	ARR3	ZBTB7A	PDGFRB	SYT1	ASH1L	HERC1	ADAMTSL4	LOX	DNAJC21	INTS1	USP7	IRX5	ARID2	ERCC2	SATB2	RPE65	CAMK2B	NR2F1	SLX4	SLC39A5	EFEMP1	PLOD3	GTF2IRD2	LIMK1	FANCL	ATRX	PGAP3	MED13L	CRIPT	USH2A	RAB28	CACNA2D4	TMEM270	TRIT1	SIN3A	OTUD5	LRPAP1	MED25	KLLN	SOBP	RAD51	FIBP	CRYAA	PIGL	EPHA2	EP300
HP_HYPERMETROPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERMETROPIA	PPM1D	ALDH1A3	KAT5	IARS2	VPS37D	MT-TS2	RPL10	CLCN3	CTCF	RPGRIP1	CENPT	SLC24A1	MKRN3	HIVEP2	CASZ1	CNNM4	FKTN	CLDN16	PIGY	FGD1	IFT52	SOX2	SETD2	ERCC6	PLOD1	SPEN	RAD50	PIGV	METTL27	MBD5	SKI	SATB1	GNAT1	MAG	HSPG2	ARSG	SYNE1	FAM111A	PBX1	CLRN1	SLC39A8	PDE6C	RORA	ESPN	CCDC47	GRM6	GRK1	GTF2IRD1	TBC1D23	WAC	B4GALT7	SHOC2	WDR35	COL11A2	RPGR	HNRNPR	PHIP	PRPS1	BCL11B	MED12L	CHMP1A	CREBBP	POLR3A	YME1L1	MFRP	BCL7B	MLXIPL	RS1	KMT2C	KIAA0753	SLC6A8	CDH23	NCF1	USH1C	CSTA	ADGRL1	YY1	FBXO11	RAB11B	ERCC8	ZC4H2	KIF11	PRDM16	LUZP1	KIDINS220	GNB3	FKBP6	DYRK1A	MAN1B1	SMAD4	PIEZO2	ASXL3	NMNAT1	WDR19	RFC2	HNRNPK	PCNT	DDX6	TBL2	APC2	KDM5C	FOXL2	ZFHX4	PACS2	TRPV4	RRAS2	PDPN	BLOC1S3	BLTP1	NFIX	GTF2I	OGT	TRPM1	TCTN2	TAOK1	KCNAB2	PDE4D	SIX6	HERC2	CLIP2	USH1G	ZMYM2	TUBB4B	KANSL1	BICRA	PQBP1	CACNA1F	SLC6A6	DPF2	CNGA3	STX1A	ZNF148	BEST1	TGM5	MAN2B1	POMT2	LCA5	DNAJC30	NPAP1	SNORD115-1	NOG	CSGALNACT1	RERE	ERMARD	SNRPN	GABRD	SRCAP	PWRN1	MED12	KAT8	ADNP	GNB2	GNAT2	NBAS	CHAMP1	H4C5	GPR179	EPRS1	IFT172	TULP1	SNORD116-1	HARS1	PWAR1	PRKCZ	MARK3	CACNA1G	CTNNB1	SETD5	POGZ	KRT5	FGF3	CRB1	TMEM98	TASP1	RHO	ATF6	MADD	NSD1	CHST3	OTX2	LAMA1	PDGFRB	SYT1	ASH1L	KERA	BUD23	PRSS56	SETBP1	NEK1	DNAJC21	TNPO2	PIGT	PGAP2	MMP23B	COL4A1	CIB2	SLC25A24	KMT2B	BAZ1B	RMRP	ELN	PAX2	KIFBP	CHD3	ATP6AP1	IFT122	SATB2	PPP1R12A	CLDN11	SON	GJA5	GJA1	PCDH15	GATAD2B	LRIT3	LMBRD2	NR2F1	PIGG	RAI1	MAGEL2	UBE4B	ATP6V1A	EIF4H	SHANK3	WDR26	PIGW	IFT43	GTF2IRD2	HUWE1	LIMK1	USP9X	SAG	PGAP3	MED13L	CEP78	MYO7A	MSX2	GJA8	PIGO	RAX	PDE6H	COL3A1	CABP4	NYX	CACNA2D4	PIGU	TMEM270	EMC1	PRR12	PDE6B	LTBP2	SIN3A	IQSEC2	OTUD5	B3GAT3	PUF60	MED25	FLCN	EHMT1	SOBP	KRT14	CNGB3	COL25A1	PIGL	CNOT3	P4HTM	EP300
HP_RETINAL_DETACHMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_DETACHMENT	LRP2	GNA11	TEK	COL9A2	LCA5	IKBKG	PRPH2	COL2A1	BAP1	PRDM5	DEAF1	ATOH7	PAK2	SIX6	TUB	FKRP	FKTN	COL18A1	COL11A1	IPO8	B3GALNT2	NDP	ZNF408	PAX6	PTPN22	BCOR	SF3B1	CRPPA	PLOD1	FZD4	VCAN	IGFBP7	POMT2	ALG12	CAPN5	MYOC	P3H2	EFEMP1	TSPAN12	BEST1	NSMCE2	PTEN	LRP5	ALDH1A3	XYLT2	LTBP2	XRCC4	COL9A1	ADAMTSL1	POMK	IMPG1	ADAMTSL4	FBN1	HMX1	RAI1	GZF1	DAG1	CFH	CYSLTR2	SPATA7	CTNNB1	DSE	ARL6IP6	VHL	NRCAM	POMT1	AKT1	YAP1	RS1	RPE65	B4GAT1	CHST14	LOXL3	GNAQ	HLA-A	IQSEC2	FRG1	CHRDL1	KIF11	MAF	GMPPB	TENM3	DYRK1A	FLII	CBS	LARGE1	LAMB2	POMGNT1	NHS	CCND1	IMPG2	LRAT	FAS	CACNA1F	COL9A3	ZNF469	COL4A1	CFI	POMGNT2	KCNJ13	CYP1B1	TUBGCP6	RXYLT1	PAX2
HP_OPTIC_DISC_PALLOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPTIC_DISC_PALLOR	BBS2	HK1	NDUFB10	LCA5	NDUFS4	ALMS1	KCNJ13	NDUFAF2	PIGB	TULP1	OPA1	NDUFS2	RDH12	CYP1B1	FGF12	TUB	NDUFAF8	NDUFAF5	NDUFS3	MVK	NR2F1	CNNM4	PRCD	PANK2	PDE6G	NDUFV1	RTTN	RAX2	ACER3	SCAPER	GNAT1	VPS41	MT-ND1	KLC2	ERCC6	IMPDH1	MT-ND3	RP1	POMGNT1	TIMMDC1	CLCC1	ARHGEF2	MERTK	KCNC3	MFN2	MAG	AFG3L2	SPG7	COL18A1	TRNT1	UBE3B	KLHL7	FOXRED1	AP3B2	TASP1	GRID2	TMEM126B	COX7B	INPP5E	ARHGEF18	RRM2B	BEST1	TPI1	PDE6A	C1QTNF5	TOR1A	ARL2BP	MFSD8	DNM1L	LRAT	ABCA4	OSTM1	WFS1	PLK4	RBP3	MFF	FAM161A	IFT172	PEX1	TMEM126A	ARL13B	NUBPL	NDUFAF1	ATXN1	MMP19	COL4A1	SPATA7	CLCN7	NDUFS1	DPAGT1	MT-ND2	SDHD	RP1L1	IDH3B	PARS2	GFM2	FLRT1	ELOVL1	ZNF408	NDUFC2	MKS1	CLDN11	TMEM67	PMPCB	RPE65	IMPG2	MAPKAPK5	CYP27A1	NDUFS7	MECR	NGLY1	PRPF31	AIFM1	HLA-A	B3GALT6	ERCC8	EFEMP1	MAK	NDUFA11	PRPS1	NDUFA6	MYOC	HARS1	CASK	NDUFA1	DYRK1A	CRB1	PROM1	KIAA1549	NMNAT1	USP45	EXOC8	SNRNP200	TMEM106B	CACNA1F	NDUFS6	NDUFAF3	JAM3	BLOC1S3	OPA3	RIMS2	PISD	EYS	NDUFV2	ZNF513	ITM2B	SMG8	STX3	NDUFS8	MT-ATP6	NDUFB9	MAN2B1	NDUFB11	CLN8	HNRNPH1	NDUFAF4	MSTO1	ESPN	TUBB4B	RTN4IP1	VSX1	AIPL1	CERKL	NFIX	LYRM7	CNGA3	POC1B	PRORP	NDUFB3	TUBGCP6	CNGA1	PRPF4	ACO2	DARS1	CFAP418
HP_EXTERNAL_OPHTHALMOPLEGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXTERNAL_OPHTHALMOPLEGIA	STIM1	MT-ND4	MT-TL1	OPA1	POLG	MT-ND5	SLC25A4	MTMR14	MT-TE	SLC52A3	POLRMT	LRP12	NOTCH2NLC	PHOX2A	C1QBP	RYR1	RILPL1	TK2	FA2H	TYMP	MT-CO1	SALL4	MT-TK	SDHB	DGUOK	NDUFAF2	ATXN3	DNA2	VARS2	TWNK	RRM2B	MT-TH	MT-TL2	STUB1	LIG3	GIPC1	MFF	MT-ATP8	MT-TN	DNM2	MTRFR	MTM1	TOP3A	MYF5	APTX	KIF21A	SDHAF1	MYF6	MT-CO2	SLC19A3	FRG1	SDHA	SCN4A	HPDL	ATG7	MGME1	MT-TF	NSUN3	POLG2	MT-TT	MT-ND6	SDHD	NUTM2B-AS1	RNASEH1	TUBB3	MT-TS2	MT-CO3	BIN1	MT-TW	LYRM7	MT-TQ	ACADS	MT-ND1
HP_MYOPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOPIA	LRP2	ADGRV1	PRIMPOL	PDZD8	LCA5	AP3D1	COL2A1	VPS37D	IFT122	HTT	HS6ST2	SDHD	DEAF1	OCA2	CYP1B1	TKFC	TEAD1	FBN1	FKTN	IPO8	B3GALNT2	BMP4	SMARCB1	TTLL5	CANT1	PTPN11	KRAS	SETD2	NDP	DPYD	PLOD1	OAT	VCAN	ENPP1	ELOVL4	ASXL1	ATP6V1A	SEC23B	AGBL5	COL18A1	TRNT1	MAGEL2	CRYBB1	FBXW11	COX7B	TCF4	P3H2	MYO7A	AGK	TBC1D7	SMARCA4	PDE6C	GRK1	LIG4	MBTPS2	ZEB2	WAC	KAT6A	HADHA	SKI	SMC1A	TAF1	POMT2	TSPAN7	KDM5B	ARID1B	HSPG2	NSD1	DSE	ADAMTS10	CFAP418	MED12L	POLR3A	GJA1	ZNF408	NPR3	MLXIPL	POMT1	PRDM5	LARGE1	NT5C2	LOXL3	GLE1	PSMD12	ABCC6	COL4A3	ATP6V0A2	RIN2	KIF11	MYOC	PACS1	TCF20	GMPPB	IGF1	FKBP6	FLII	KIAA0586	ATAD3A	NMNAT1	HNRNPK	DPH5	GTF2E2	POMGNT1	APC2	KDM5C	ZFHX4	CSPP1	ARID1A	BAP1	ADAMTS2	BLOC1S3	PIK3CA	KCNV2	SOX5	RAI1	AP1B1	ADAMTS17	PDE6H	RPGR	EIF2S3	SLC2A10	COL4A5	SCO2	ATP6V1B2	CLIP2	PIK3R1	EFL1	CRYBA4	ERBB3	SMARCD1	DAG1	PTEN	VPS50	MAN2B1	HCCS	SOX9	RAD21	SOX10	AMMECR1	TWIST2	CLDN19	EXOSC2	GPAA1	SNORD115-1	RERE	CAMTA1	SDHB	PAK2	GLRB	PWRN1	GNAT2	NBAS	CDC45	CACNA1F	PWAR1	LRIT3	CTNNB1	RP1	POGZ	MAP2K2	MYO1H	DOHH	UBE3B	SLC12A6	CRYBA2	MADD	SMS	COL9A1	FANCI	ADAMTSL1	FKRP	BFSP2	SRCAP	B3GLCT	TNPO2	COL11A1	FGFR3	COL4A1	VPS13B	SPATA7	COL9A2	GRM6	BAZ1B	BPTF	RMRP	AFF4	ELN	CCDC28B	ANKRD11	AKT1	CDK8	TYR	WHRN	NOTCH2	CASK	ALDH3A2	SON	PAX2	EIF4H	WDR26	PIGT	B3GALT6	HUWE1	GPR143	ZSWIM6	C12orf57	DYRK1A	RHOA	CBS	LAMB2	SMARCE1	SOX11	TGFBI	TLK2	LRRC32	LAMA1	LRAT	TTC8	KCNH1	CNGB3	BRAF	PRR12	PDE6B	NONO	PUF60	KCNE5	ELP1	COL1A2	TRAPPC11	ACSL4	SNRPN	VARS1	CCNQ	ANTXR1	COL25A1	SDHC	SMARCAL1	P4HTM	BRD4	KAT5	RPL10	GJC2	COL9A3	SLC24A1	MKRN3	TUB	NYX	LTBP2	CLDN16	FLNA	METTL27	MBD5	UCHL1	THG1L	GNAT1	HDAC8	ALDH18A1	SLITRK6	RP2	OFD1	H4C3	GTF2IRD1	SHOC2	WDR35	AHDC1	COL11A2	TMEM94	XYLT2	OPN1LW	TRPM1	GZF1	PMM2	GTF2H5	PRPS1	JAG1	FBN2	BCL11B	EXOSC5	ZNF644	CHMP1A	YME1L1	BCL7B	PPP1R21	CRYGC	NDUFB11	GPR179	NCF1	FKBP14	COL12A1	GTPBP2	POLR3B	IQSEC2	MPLKIP	PURA	GNB3	GJA8	ARCN1	EED	WDR19	RFC2	CRYGD	RECQL4	TBL2	HACE1	PACS2	UBE3A	FGFR2	OPN1MW	ZNF469	POLR1C	ACOX1	NFIX	GTF2I	OPTN	IFIH1	SLC25A4	TFE3	HERC2	SMARCC2	GLRA2	THOC6	BICRA	TFAP2A	RBM10	POC1B	XYLT1	CNGA3	STX1A	DNAJC30	NPAP1	TBC1D24	ERCC3	NSUN2	CPSF1	P4HA2	ASPH	B4GALT1	ATP6V1E1	NIPBL	USF3	MYO5A	GNPTG	H4C5	TULP1	SNORD116-1	CHM	TFAP2B	AEBP1	CYP4V2	CAMK2G	SETD5	SAG	SOX4	RHO	ARL6	ATF6	TARS1	IFT52	NRAS	SMC3	FN1	ARR3	COL4A6	HERC1	ADAMTSL4	CARS1	BUD23	SETBP1	LOX	DNAJC21	USP7	MAF	IRX5	TMEM63A	MAP2K1	ARID2	COL4A4	ERCC2	RNF113A	RPE65	POMK	EMC1	CHST14	NR2F1	SLC39A5	EFEMP1	IFT43	PLOD3	GTF2IRD2	LIMK1	TIMM8A	USP9X	ATRX	MED13L	CRIPT	MSX2	DPF2	PPP2R5D	USH2A	RAB28	CABP4	CACNA2D4	TMEM270	TRIT1	CRYBB2	LRPAP1	BBS1	KLLN	PDZD7	MC1R	COL5A1	CRYAA	EPHA2
HP_RETINAL_DEGENERATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_DEGENERATION	HK1	PNPLA6	LCA5	IDH3A	YARS1	PRPH2	SCN8A	OPA1	EEF1A2	CP	DNM1	HGSNAT	TUB	GABRA5	FBN2	CNNM4	PRCD	CACNA2D1	TPP1	NECAP1	CDK19	ABCA4	FBLN5	SPG11	CACNA1B	TMEM67	ERCC6	FGF13	IMPDH1	CEP164	ATP1A3	IFT140	VCAN	XYLT1	SYNGAP1	ASXL1	PITPNM3	MERTK	AP3B2	TRNT1	ANO10	CNKSR2	P3H2	EFEMP1	ATF6	DHDDS	PDE6C	OFD1	PPT1	RHO	RAX2	IDUA	RBP4	NTRK2	TRAF3IP1	PLK4	SDCCAG8	GNPTAB	FGF12	SUMF1	ACTL6B	RPGR	XYLT2	GTF2H5	CFH	CFAP418	CFHR1	BEST1	MMACHC	CACNA1A	RS1	PROM1	SLC38A3	CFAP410	YWHAG	HLA-A	MPLKIP	CYP4V2	ERCC8	NR2E3	ABCC6	PPP3CA	ELOVL4	SZT2	SLC19A2	KIAA1549	NMNAT1	GUCA1B	GTF2E2	ZFYVE26	ZNF423	POMT1	BBS9	BBS2	CRX	IFT172	PISD	CNGB1	KCNV2	GABRB2	PHYH	WWOX	TOPORS	ATP1A2	RLBP1	PCYT1A	TNFRSF11B	PARS2	GNB5	CNGB3	POMK	LIG3	TUBB4B	KCNA2	ALG6	GABRA2	EPG5	CDHR1	C1QTNF5	SLC6A6	ASAH1	CNGA3	PRPF4	PAX2	DLAT	ERCC3	CTSD	ALMS1	DRAM2	PAK2	SIX6	POMGNT1	MCOLN1	FKRP	PRPF8	COL18A1	APOE	GNAT2	SCAPER	SCN3A	MFRP	HSD17B10	TULP1	RPGRIP1	GUCA1A	CLCC1	DALRD3	ARSG	POMT2	SAG	CWC27	CFI	MTTP	MIR204	ARL6	TARS1	TLCD3B	PEX7	RDH11	CEP78	ARL2BP	LAMA1	C9	SLC7A14	CARS1	PANK2	POU3F4	ATXN7	CLN5	AARS1	TRAK1	GUCY2D	SPATA7	GABRG2	HCN1	GBA1	KCNB1	MAPKAPK3	RP1L1	CLTC	CCDC28B	CLN6	RIMS1	ERCC2	COL2A1	RNF113A	RPE65	IMPG2	GRK1	HMCN1	MAN2B1	PRPF31	FBLN1	ALDH3A2	CLN3	NRL	WRN	GRIN2D	FKTN	ATP6V1A	APOB	SLC13A5	SH3BP2	LZTFL1	CTNNB1	CFHR3	WDR19	USP45	INPP5E	SNRNP200	PDE6H	TIMP3	CDH3	LRAT	TTC8	DHX38	GABBR2	ARV1	CYFIP2	BBS4	ZNF513	MAB21L1	CELF2	REEP6	UBA5	NUS1	RDH5	CST3	SEMA4A	SLC1A2	STUB1	LARGE1	FZR1	SYNJ1	BBS1	KCNJ13	AIPL1	LMNA	CA2	RP9
HP_CONE_CONE_ROD_DYSTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONE_CONE_ROD_DYSTROPHY	PDE6C	GUCY2D	RIMS1	SEMA4A	CACNA1F	ALMS1	ABCA4	PCYT1A	CRX	CACNA2D4	GUCA1A	KCNV2	CFAP410	RAX2	NGLY1	PDE6H	CNNM4	PROM1	HMX1	TTLL5	ATXN7	RPGRIP1	AIPL1	LZTFL1	POC1B	SLC19A2	CFAP418	ALPK1	PITPNM3	ADAM9	RAB28
HP_ABNORMAL_CONJUGATE_EYE_MOVEMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CONJUGATE_EYE_MOVEMENT	NDUFA9	VPS37D	TMCO1	CTCF	SPATA5	CPLANE1	PHOX2A	PAX6	SMARCB1	SPG11	ALG1	PRKAR1A	DGUOK	FZD2	DPYSL5	TCF12	ROBO3	PEX10	FBXW11	GP1BB	ADA2	MED13	SLC39A8	ATP2B3	GRK1	ANKRD11	TRAF3IP1	WAC	COL6A1	HADHA	PQBP1	NDUFA2	TMEM126A	LARP7	HNRNPR	ARID1B	ZNF407	ADGRG1	RPS29	NRCAM	MFRP	TOPORS	SATB2	BRCA2	POMT1	DHODH	EXOSC9	HSD17B4	NOTCH1	RPL35A	GBA1	CHN1	PSMD12	MECR	WARS2	ERCC8	POMT2	TCF20	GNAS	FKBP6	NDUFA1	FLII	NCAPG2	ATAD3A	ACKR3	NMNAT1	APC	ABHD5	CHRNE	POMGNT1	NAGA	KDM5C	MKS1	BAP1	BRPF1	DDHD2	SOX5	RAI1	GNB1	WT1	POU4F1	RECQL4	GRIA4	CLP1	GNA14	CDH2	MAFB	SLC1A3	EXOSC3	CLDN19	IKBKG	CAMTA1	NGLY1	DLG3	ABCC9	HPS3	ERMARD	KDM6A	GGCX	GABRD	VAMP1	STXBP1	MAPT	KLF13	GALNT2	RPL26	IGF1R	TMEM63C	CHAMP1	DDB2	TCOF1	LRIT3	ALG11	KMT2D	FRMD4A	INPP5K	SYT1	ERCC2	TCF4	UBE3B	KIDINS220	THOC2	SLC9A6	SLC25A1	ZNF423	ALX3	SALL2	CDKL5	SIX3	PAH	SRCAP	GJC2	TNPO2	PURA	NDUFS8	TBX1	PLXND1	FGF14	SPATA7	ALDH4A1	NDUFS1	ASXL1	DCC	ATP8A2	GMPPB	FGFR2	NDST1	LZTR1	WASF1	EP300	RPGRIP1L	TMEM237	FLI1	EIF4H	SHANK3	TTI2	GPR143	TCTN2	MCTP2	TMEM53	DYRK1A	NXN	PIGO	METTL5	SOX11	UNC80	BRAF	LAMA1	LIPH	LRP5	NDUFAF3	AP4E1	MRPS2	PEX1	MAGEL2	TRAPPC11	WASHC4	MCM3AP	MED25	SYNE1	BCORL1	TRIO	LYRM7	EIF2AK3	GRHL2	PHIP	CNOT3	P4HTM	PRKACB	UBE3A	PPM1D	KATNIP	KAT5	CPSF3	TUBB2B	POLRMT	MKRN3	SUFU	MAP3K7	CTBP1	AMMECR1	RRAS2	METTL27	INPP5E	DVL3	GNAT1	ARMC9	TCTN3	NDUFS4	SLC17A5	H4C3	SLC25A22	MYOD1	SHMT2	TMEM231	ARX	GNAO1	CPLX1	SLC5A7	CLCN4	DDX3X	PMM2	FGFR3	PIDD1	HIBCH	GGT1	CHMP1A	YME1L1	NDP	GPR179	NCF1	TYRP1	MYH3	SBF1	SLC2A1	PTCH2	NOP56	FOXRED1	TUBB3	RERE	FKTN	SAMD9L	PTPN11	ADD3	FUS	TRAPPC6B	SMAD4	ARCN1	AHCY	KDM1A	HACE1	HRAS	KRAS	FBN1	MED12	FANCI	LPAR6	SMG8	ERCC6	MLXIPL	TAOK1	NDUFB9	TUBGCP6	PTCH1	BPTF	HERC2	MEG3	PIGN	PEX11B	ALG6	FGF8	TIMM50	NDUFB3	SKI	GNB3	FIBP	NDUFS2	ERCC3	DVL1	GATA4	SCN1B	PTRH2	NAXE	ATP1A3	SCO2	SGPL1	SNRPN	PRNP	NDUFAF5	VPS53	STRADA	CEP85L	SLC18A3	PRMT7	MYO5A	SCN8A	HIRA	RPS19	DDOST	SALL4	AEBP1	TGFBI	MT-ND3	TOGARAM1	SETD5	TARDBP	SAG	ADAT3	SQSTM1	RHO	GRID2	TWIST1	CYB5A	CEP152	PNPT1	ARVCF	ALG2	NUBPL	FANCF	FRMD5	GLI1	CARS1	RRM2B	LAMB2	GAN	SOST	CEP104	NEXMIF	ALDH7A1	KMT2B	DPM1	CHD3	PPP1R12A	GRIK2	RNF113A	OTX2	UBE2A	FANCM	NSD1	TDGF1	KIF21A	TBK1	OCA2	UBE4B	PEX26	PIGW	KCNMA1	HPDL	ANKRD17	RPS17	CASK	ATP6V0A2	KCNN2	DPF2	SLC25A24	DPAGT1	PPP2R5D	CABP4	PIGU	USP9X	RNF2	EMC1	RNASEH1	B3GAT3	FANCE	AP4S1	EFNB1	FAM149B1	CHST14	ADPRS	BBS1	HOXA1	ACADSB	MEF2C	ALDH1A3	NDUFB10	LCA5	CTSK	FANCB	DEAF1	TKFC	DAB1	ATOH7	CASZ1	KIAA0753	PSAP	NKX6-2	COQ8A	PLOD1	RPS24	PEX5	CACNA1B	TBC1D2B	RPS27	LONP1	CBY1	TBC1D7	ZC4H2	RAB39B	TBL1XR1	TET3	ATP13A2	CEP120	RREB1	ALG3	HMX1	TAF1	RIT1	HSPG2	NDUFA12	MED12L	CEP290	GFPT1	CDCA7	SLC6A8	LARGE1	NDUFS7	NSUN2	AP1G1	YY1	AGO2	HYLS1	PRDM16	FA2H	OVOL2	ARNT2	RAD51C	PIEZO2	XPC	KAT6A	FOXL2	RTL1	BBS9	BLOC1S3	CEP41	FOXP1	FANCA	ATR	MED13L	FRMPD4	PDE4D	SLC2A10	SLC37A4	NDUFS3	NEU1	CC2D2A	PLP1	MID1	ROR2	PEX16	NSDHL	NDUFA4	SLC6A19	SLC9A7	SPTBN1	EXT2	KIF7	GLRB	PWRN1	LYST	NDUFV1	CHD7	CDC45	AP4B1	PWAR1	GMNN	ARHGEF2	FGFR1	PNPLA6	DOHH	TMEM126B	CSPP1	CHAT	WDR81	ARHGAP31	ERLIN2	MTRFR	ADARB1	PIGT	CDK13	NDUFAF1	MMP23B	TMEM98	TCTN1	ATP1A2	CYB5R3	AFF4	RP1L1	ELN	AKT1	CDK8	POLA1	FOXC1	CCDC88C	RIC1	HSPD1	SMAD3	CHRNA7	FOXH1	ALS2	ALX4	MDH2	ERCC4	TENM3	SIL1	EXOSC1	TLK2	OCRL	SPTBN2	LRAT	NDUFS6	YARS2	BRF1	PDE6B	ALDH18A1	AUTS2	PLPBP	PUF60	SIGMAR1	COL1A2	NDUFAF4	ACOX1	RPS7	NFIX	COG8	PLA2G6	RSPRY1	COL25A1	NDUFV2	CLCN3	AFF3	COG5	VRK1	PEX3	SLC44A1	CBL	SPEN	SYNJ1	AHI1	KCNC3	MTOR	ACO2	AGTPBP1	GRM6	H4C9	NODAL	RPL15	PRPS1	RPL11	CLTRN	ABCC8	VPS13A	CDC42	LRPPRC	CTDP1	MAB21L2	BCL11A	VPS13B	SPECC1L	LETM1	DHCR7	FBXO11	MPLKIP	RAB11B	LUZP1	NDUFA6	ATG7	ARPC4	FZD4	RPS10	NHS	NEUROD2	TRIM37	PACS2	ARL13B	KRT10	PLK4	GTF2I	PCYT1A	SIX6	PEX12	NDUFB11	CENPJ	AP3D1	RNF135	MYO9A	SEC23A	ZNF292	CDC42BPB	COL12A1	ATP6V1E1	SNIP1	KAT8	TELO2	ANAPC7	PIK3R5	CACNA1G	TACO1	LMX1B	FGF3	SUCLG1	XPA	NEK9	HESX1	MTFMT	GLI2	AP4M1	DOLK	MADD	TARS1	IRF2BPL	TMEM216	BEST1	CHST3	EIF2AK2	BCAP31	SPRED2	FN1	DNM1L	ASH1L	PRSS56	PEX2	SARDH	USP7	SHROOM4	HNRNPH2	VSX1	ARID2	PYCR2	STT3A	RPE65	SON	GJA1	PEX13	NPC1	PLXNA1	GTF2IRD2	NRXN1	LIMK1	DHX37	PIGL	CRIPT	SIM1	HHAT	LEMD3	SCNM1	DLG4	CDON	GRIN1	CACNA2D4	TMEM270	KANSL1	MRPS34	SIN3A	GAS1	DYNC2LI1	PSMC3	SCN4A	B9D1	EVC	PRKACA	AMPD2	MN1	IDH3A	SEMA3E	KCNJ13	ASCL1	HECW2	ZBTB20	ZIC1	PIGY	ASXL3	EIF3F	SETD2	CAMK2A	RET	KRT71	NPC2	NSD2	EDEM3	VPS51	HPS6	NDUFA13	AGK	DCN	DISP1	WDR26	GJB6	SLC25A46	CRYAA	COX15	RPS28	PUS3	ZEB2	DOCK6	SPOP	FANCC	SYNGAP1	HOXB1	TMEM67	LARS2	PALB2	DSE	HK1	CREBBP	RPS6KA3	COL6A2	TMEM218	CA8	FGF10	PIGQ	SCUBE3	MACF1	DCTN1	C9orf72	UFSP2	LBR	SOX3	ARID1A	COL2A1	HLA-DQB1	MAD2L2	KCNV2	EBF3	MCOLN1	EIF2S3	BCAS3	SLC30A9	BRIP1	SUPT16H	COLEC11	DHCR24	NDN	SIK1	MAN2B1	IL1RAPL1	DPM2	RAD21	DLAT	EXOSC2	SNORD115-1	DNMBP	ELOVL4	DHX30	PAK2	ADNP	NBAS	TSEN15	HID1	GRM7	POLR1D	OPA1	CTNNB1	SALL1	MYO1H	KRT74	FCSK	SLC19A3	GK	RBPJ	PDHA1	CDH11	POLG	TMEM240	KIF22	ANTXR1	TWNK	COL4A1	MAPK8IP3	TUBA1A	BAZ1B	RPS15A	CCDC28B	GTF2E2	ZMIZ1	SEC24C	PEX6	POLR3A	L1CAM	H4C11	RBL2	KIF14	FLNA	RHOA	GJA8	PITX2	LRRC32	PRR12	FBXW7	HNRNPH1	TGFBR2	SYT2	CYP1B1	ACSL4	CHCHD10	CCNQ	DPP6	ERCC5	BRD4	SLC24A1	POLR1C	NANS	SSR4	GATA1	SREBF1	MBD5	STAG1	PHF21A	WNT5A	FGFRL1	BLOC1S5	HMGB3	SHOC2	AHDC1	MRAS	FTL	GTF2H5	JAG1	AP3B1	MAP2K2	EXOSC8	EXOSC5	BCL7B	SETX	PPP1R21	HOXA13	POLR3B	ATXN1	COL11A1	PORCN	OPHN1	WDR73	FKRP	CWF19L1	SHH	TRPM1	DKC1	PIGG	SMARCC2	BICRA	RPL18	XRCC2	RPL31	TAF2	TBC1D24	AARS1	LIPT1	OSGEP	NDUFAF8	PDCD6IP	TWIST2	TFAP2B	PRKCZ	DNMT3A	CAMK2G	TMEM222	SOX4	EVC2	NOG	CRB1	B9D2	SPG7	H3-3A	SOX2	PTEN	ALG9	RPL10	SLC38A8	ORC1	FGD1	SLC35C1	BUD23	SETBP1	POU3F4	SNAP25	PGAP2	PYROXD1	CCDC174	HPS5	RAF1	MT-ND2	NPHP1	RPS20	CLDN11	GJA5	POMK	TMEM138	LMBRD2	CACNA1A	BCOR	NF1	WDR35	EXOC8	TBX15	FMR1	NTNG2	JMJD1C	IQSEC2	MAP2K1	FANCG	SURF1	SUCLA2	ZSWIM6	TKT	MC1R	NONO	TBCK	UBA2	EOGT	CHRNG	IARS2	AASS	VLDLR	ZEB1	PRSS12	UBE2T	HNRNPU	FBXO28	MT-ND1	DPYD	FBXL3	ATP6V1A	SMARCA4	LIG4	TBC1D23	CACNA2D2	GRM1	NALCN	RRAS	SCN2A	NCDN	SMC1A	KDM5B	CD96	PRDM13	VCP	NDUFAF2	YAP1	PAK1	FIG4	SPTLC1	ABCB7	GMPPA	FARS2	NDUFA11	PACS1	DMXL2	KIAA0586	PAX3	LAGE3	APC2	ZFHX4	NDUFA10	PDPN	COL6A3	GATAD2B	ATP6V1B2	CLIP2	RFWD3	SMARCD1	H1-4	VPS50	PDE6D	ERF	PRKAR1B	TFAP2A	AP1S2	NRAS	GNB2	TUBGCP4	POGZ	FBLN5	ALG12	ZIC2	BRCA1	TASP1	SLC12A6	TYR	REV3L	DDB1	PI4KA	ATRX	COMT	RMRP	ACOX2	PET100	PHOX2B	PBX1	SLC16A2	ATM	PAX2	HUWE1	PEX14	CACNA1F	ERCC1	SET	RAX	SMARCE1	COL8A2	GNAQ	EZH2	PIGP	CEP83	FOXE3	KCNE5	TBX4	SOS1	DACT1	TGFBR1	PHGDH	MAN1B1	TGIF1	MPDZ	DDX59	CLDN16	RPS26	FANCD2	COL13A1	PIGV	DLL4	THG1L	PIBF1	HDAC8	SDHA	ADSL	RORA	MPDU1	GTF2IRD1	NUP133	TRIP11	CLCN6	COL11A2	TMEM94	FAM50A	PROKR2	ZDHHC9	GLRX5	COL4A2	MAPRE2	RPL27	TRIM8	KRT25	OFD1	TRIP12	CDH3	TBCD	UBR1	TREX1	DLK1	RFC2	DDX6	TBL2	B3GALNT2	PUS7	BLTP1	SLC25A4	KCNAB2	TFE3	SIAH1	MID2	NELFA	DLL1	KDM6B	STX1A	RPL5	KCNA1	DNAJC30	NPAP1	TANGO2	NIPBL	SMG9	NR2F1	COL18A1	PCDHGC4	H4C5	SNORD116-1	SLC35A2	L2HGDH	TIMMDC1	RBM8A	SOS2	ARL6	TSR2	GDF5	PEX19	TOR1A	SMC3	SF3B2	KIF15	POLR1B	NHLRC2	LMNB1	INTS1	RASA2	LGI4	RAB3GAP2	MYF5	ARL3	CAMK2B	NDUFAF6	SLX4	AGRN	POLR2A	FANCL	PGAP3	ALDH3A2	NEDD4L	NYX	GALC	TRIT1	RPL35	MAB21L1	OTUD5	ECHS1	CLTCL1	SOBP	GRIA1	RAD51	UFD1	KMT2A	PNKP
HP_UNDETECTABLE_ELECTRORETINOGRAM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNDETECTABLE_ELECTRORETINOGRAM	LCA5	CLN3	LRAT	CC2D2A	HSD17B4	RPE65	USH1C	EYS	TULP1	RPGRIP1	KIZ	NR2E3	PPT1	POMGNT1	NRL	CRX	CLN8	MYO7A	PRCD	TPP1	PDE6D	CRB1	PROM1	SPATA7	FLVCR1	CLCC1	NMNAT1	IFT140
HP_COLOR_VISION_DEFECT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COLOR_VISION_DEFECT	GUCY2D	PDE6C	RPGR	PODXL	OPA1	OPN1LW	LCA5	CCDC141	PROK2	FGF17	PRPH2	IMPG1	OPN1MW	RLBP1	OPA3	CHD7	FGF8	DNM1L	SLC24A1	MORC2	CNNM4	ATF6	ABCA4	PROM1	GNAT2	NBAS	AIPL1	CACNA1F	GPR179	TULP1	TIMM8A	SEMA3A	RPGRIP1	DCC	UNC119	CABP4	PRKN	GUCA1A	HTRA2	PITPNM3	GNAT1	MFN2	AFG3L2	HESX1	RHO	TLCD3B	CFAP410	HS6ST1	C1QTNF5	CEP78	OFD1	GRM6	GRK1	POLG	NMNAT1	TTLL5	TMEM126A	DRAM2	FGF14	PINK1	VPS13C	SYNJ1	SPATA7	SEMA4A	OPN1SW	MTRFR	BEST1	RIMS1	CACNA2D4	CDHR1	RAB28	RPE65	LRIT3	DUSP6	CNGB3	FEZF1	CYP4V2	FGFR1	SNCA	IL17RD	CRX	NR2E3	SAG	FA2H	ADAM9	ELOVL4	CFAP418	UCHL1	ALDH3A2	PDE6H	NYX	IMPG2	LRAT	SOX10	PDE6B	NDNF	PARK7	TRPM1	POC1B	LRRK2	TACR3	ANOS1	SPRY4	TK2	FLRT3	MTTP	PROKR2	DNAJC6	RAX2	RTN4IP1	CNGA3	WDR11	ACO2	GNB3
HP_TRITANOMALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRITANOMALY	OPA3	C1QTNF5	POC1B	OPA1	DNM1L	OPN1SW	GUCY2D	NR2E3
HP_ABNORMAL_UVEA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_UVEA_MORPHOLOGY	NLRP3	LRP2	ADGRV1	SDHB	SEMA3E	VPS37D	DPP6	PRPH2	HS2ST1	FOXE3	OCA2	RPGRIP1	VHL	TEAD1	B9D2	PITX2	NDUFB11	MT-TK	SALL4	TGFB2	FOXC1	FZD4	PRKAR1A	AP3D1	KRT71	FKRP	VCAN	NSD2	HPS6	ARSG	MITF	RASGRP1	AAAS	SH3TC2	MYO7A	MAT2A	DISP1	CRYAA	TMEM67	MBTPS2	ZEB2	WAC	TMEM237	HADHA	MAX	CSPP1	DAG1	VPS33A	PALB2	TIMP3	CFHR1	KRAS	BLOC1S6	MFRP	BRCA2	BEST1	LRBA	CHN1	TGFBR1	TMEM218	PTPN2	KIF11	SHH	HPS1	MKS1	ELOVL4	GMPPB	LYST	C12orf57	FKBP6	CC2D2A	UBE3A	FOXP1	LARGE1	RNU7-1	POMGNT1	IGBP1	HEY2	MAD2L2	CHD7	COL4A1	ADAMTS17	PMP22	TRIP13	WT1	RLBP1	SUFU	IL2RA	POMGNT2	USH1G	PIK3R1	BRIP1	PNPLA6	SDHA	DLX5	POMT1	MAFB	NDN	SNAI2	TGFBR2	WNT10B	FBN1	CPAMD8	GNA11	ITPR1	SOX10	LETM1	DHX16	IKBKG	SNORD115-1	SIX6	GABRD	KCTD1	IGF1R	FBXW4	CCM2	POLR1D	TCTN3	TCOF1	SF3B1	MT-TL1	SALL1	CFI	CAPN5	MLPH	MIR204	KRT74	PAX6	NOTCH3	ACTB	ZNF423	LRP5	C1QTNF5	ALX3	SLC25A11	TYR	RB1	SALL2	SIX3	WNT3	ADAMTSL1	KIF1B	TRIM28	VPS13B	SMCHD1	SPATA7	ERCC8	BAZ1B	MAPKAPK3	CCDC22	NRAS	BTNL2	NOTCH2	PCDH15	RPGRIP1L	PRKCD	CASK	FBLN1	FLI1	PEX16	ATP6V1A	EIF4H	GPR143	TCTN2	ADAMTSL4	RHOA	AIRE	SNRPN	MAGEL2	LIPH	PRR12	LDHD	GRHL2	ELP1	STUB1	SIM1	FAS	FANCC	ANKRD55	VPS35L	DNASE1L3	KATNIP	HLA-B	MT-TS2	BAP1	ATOH7	COL3A1	NF1	OVOL2	CLCNKB	MKRN3	NAA10	VSX2	KIFBP	POLR1C	MALT1	BCOR	TRIM44	CRPPA	CTBP1	MTSS2	METTL27	INPP5E	XYLT1	GUCY2D	IL6	ARMC9	ACTA2	FGF3	COQ2	H19	BMP4	EFEMP1	IL2RB	FGFRL1	TONSL	KIT	BLOC1S5	HCCS	IMPG1	IRF4	XYLT2	CPLX1	PEX1	IFNG	JAG1	AP3B1	PEX6	BCL7B	GPR35	GFAP	FGFR2	NDP	CRYGC	PEX19	CDH23	NCF1	TKT	PTCH2	CHRDL1	CYP4V2	DIS3L2	TBX22	ABCC6	FAM111A	TMEM216	EDNRB	CRYGD	FASLG	KRIT1	CPLANE1	PEX13	IMPG2	PORCN	CD247	WDR73	SMAD2	SOS1	FANCI	LPAR6	PIGG	ERCC6	MLXIPL	B9D1	PTCH1	HERC2	SDHD	CNGB3	FGFR1	FGF8	TMEM231	XRCC2	REST	HLA-DRB1	SLC45A2	TBX2	MPZ	EPS15L1	PEX11B	ROM1	KITLG	PRKCZ	PEX12	TOGARAM1	CRB1	B3GALNT2	WASHC5	FLNA	SDHC	PTEN	GPC3	ALG2	HRAS	MYO5A	FANCF	BUD23	GNAQ	TYRP1	BIRC3	DCT	TSC1	POU3F4	SMO	CEP104	CYSLTR2	CIB2	HPS5	PEX2	NOD2	NPHP1	AHI1	TRAPPC11	POMK	MICOS13	CD27	TMEM138	HMCN1	FANCM	TDGF1	UBE4B	MAF	ANK1	IDS	CFHR3	CRYBB2	EYS	TNFRSF1A	FANCE	FANCG	PEX26	LMX1B	PDZD7	MC1R	TUBGCP6	RSPO2	STIM1	FSCN2	ALDH1A3	LCA5	FANCB	ZEB1	NDE1	UBE2T	CYP1B1	FBN2	CASZ1	RAB27A	OAT	SLC25A15	COL18A1	CRYBB1	DHCR7	HSPG2	CBY1	CLRN1	FH	ESPN	ERCC4	GJA1	ALG3	RNF216	HMX1	CFH	TCTN1	CTNNB1	MIR184	MED12L	CEP290	YAP1	LOX	TUBGCP4	HYLS1	PRDM16	GMPPA	MYOC	RAD51C	PAX3	PDPN	BLOC1S3	CRX	CEP41	LACC1	FANCA	MMP14	CLIP2	KANSL1	CRYBA4	RFWD3	ENPP1	RXYLT1	DLX6	POMT2	ERF	RERE	SPTBN1	TFAP2A	PWRN1	ADAMTS18	SLC24A5	TMEM127	BDNF	MDH2	PDCD10	MYH11	PWAR1	GUCA1A	POGZ	CHM	ZIC2	BRCA1	TSPAN12	CENPF	CEP120	PEX5	OTX2	TCF4	B3GLCT	MMP23B	TMEM98	BLM	ELN	FKTN	AKT1	WHRN	B4GAT1	FOXH1	COX7B	GDF3	EDN3	ERCC1	TENM3	MFAP5	CEP78	LAMB2	RAX	PTPN22	RLIM	COL8A2	OCRL	LRAT	PRKG1	PUF60	TP63	KIAA0586	CLDN19	DACT1	DLST	ELP4	TGIF1	MPDZ	TXNDC15	ABCA4	FBLN5	ZNF408	SOX2	TMEM107	SPEN	RET	PIBF1	ROR1	SKI	CLEC3B	RP2	SEM1	PEX3	HPS4	RBP4	GTF2IRD1	NODAL	GZF1	SRD5A3	MAPK1	ACTG1	MAB21L2	KRT25	BTRC	USH1C	HLA-A	LOXL1	LUZP1	GJA8	DYRK1A	RFC2	FANCD2	POU6F2	DDX6	TBL2	GATA1	TRIM37	ARL13B	GTF2I	ATP10A	STAT4	KCNAB2	PCYT1A	DTNBP1	SAG	PHOX2B	NELFA	DLL1	EPG5	HHAT	STX1A	PAX2	UBE3B	DNAJC30	NPAP1	MT-TE	ASPH	MYLK	APOE	TNFAIP3	SNORD116-1	HARS1	GLI2	ACVRL1	CLCN2	NLRP1	PEX10	POLR1B	PRSS56	PDE4D	MMP2	AGXT	SMAD4	VSX1	ARL6IP6	TGFB3	ARL3	RPE65	MST1	PROM1	PEX14	SLX4	NRL	CASP10	TSC2	GTF2IRD2	LIMK1	FANCL	MIF	CDON	USH2A	TINF2	TMEM270	SEMA4D	LTBP2	BCL10	SIN3A	TBR1	MSH6	GAS1	ADNP	RAD51	SDHAF2	EPHA2	SMAD3
HP_UVEITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UVEITIS	DNASE1L3	NOD2	NLRP3	GPR35	HLA-B	BTNL2	IKBKG	LRBA	MST1	CD27	TKT	ATOH7	PRKCD	FAS	ANKRD55	PTPN2	CASP10	MALT1	ERCC6	TNFAIP3	ERCC1	STAT4	HLA-DRB1	PTPN22	MIF	FOXP1	AIRE	FASLG	CAPN5	IL6	SEMA4D	CD247	IL2RB	RASGRP1	BCL10	LACC1	NLRP1	TNFRSF1A	MBTPS2	IL2RA	ERCC4	TCF4	GJA1	STUB1	ERCC8	IRF4	BIRC3	BLM
HP_LEUKOCORIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEUKOCORIA	ATOH7	GNA11	FZD4	NDP	RB1	ARL6IP6	TINF2
HP_RETINAL_DYSTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_DYSTROPHY	CEP290	LRP2	FSCN2	NDUFA9	IFT122	TRNT1	HSPD1	PRPH2	RLBP1	MT-ATP6	HGSNAT	CNGA1	CNNM4	PRCD	RSPH3	CEP41	MT-ND1	BMP4	NDUFB11	TTLL5	MT-TK	STK36	CABP4	KLHL7	IFT140	FKRP	PGAP1	CFAP300	PITPNM3	AGBL5	RNF113A	ARL3	BEST1	PEX3	NPHP3	BBIP1	PDE6A	CCDC65	ARL6	LRAT	GRK1	PEX1	RAX2	TTC8	MFSD8	TRAF3IP1	ARV1	IMPG2	POMK	RNF216	IFT172	HMX1	PANK2	CDH23	TMEM138	DAG1	CFH	TMEM67	IMPG1	TIMP3	CFAP418	RCBTB1	HK1	DNAH1	DNAH5	RPGRIP1L	POMT1	DDR2	SPAG1	ZNF408	ALMS1	VPS4A	PCYT1A	PGK1	PEX5	CFAP410	WARS2	DHDDS	PRPS1	AMACR	CFAP221	ERCC8	BBS7	MAK	NR2E3	USH1G	CC2D2A	KIF11	KIAA0586	CLRN1	MT-ND6	SLC24A1	GUCA1B	LARGE1	PEX6	CSPP1	MKS1	MCIDAS	BBS9	PEX12	CRX	IFT27	BBS5	GAS2L2	KCNV2	PHYH	COL4A1	PDE6H	ABHD12	RPGR	DNAAF5	MTTP	PEX2	USH2A	POMGNT2	CEP164	NPHP1	PCARE	PNPLA6	SRD5A3	PCDH15	C1QTNF5	PRPF4	RXYLT1	PDE6C	EXOSC3	CLDN19	EXOSC2	ARL2	DRAM2	USH1C	SIX6	GGCX	PRPF8	FGFR2	GAS8	TMEM216	AHR	PDE6G	OFD1	COQ2	PROM1	HID1	RHO	RPGRIP1	LRIT3	RP1	MT-TL1	POGZ	CWC27	WDR19	INPP5E	ZNF423	KIZ	RGR	CEP120	DNAAF1	DYNC2I2	ODAD3	MT-TV	VPS13B	GATA3	RP1L1	EFEMP1	GRM6	DNAI2	PDZD7	SAG	MAPKAPK3	CCDC28B	FKTN	RIMS1	ELOVL4	SLC35A2	TTC12	B4GAT1	BBS12	KIF3B	PEX10	PRPF31	CLN3	DNAI1	RPE65	RDH11	MDH2	PEX11B	NPHP4	CACNA1F	LZTFL1	PEX14	SNRNP200	CCDC103	LAMA1	AHI1	CCNO	PDE6B	ZPR1	DNAAF6	TMEM237	ITM2B	CFI	SEMA4A	ACOX1	ROM1	PEX26	TRAPPC9	CCNQ	CCDC39	FLVCR1	SH2B1	DNAJB13	RPL10	CLCN3	TULP1	BBS10	TUB	KIF5A	NYX	DNAAF4	CDH3	PEX13	CHST6	CRPPA	ERCC6	IMPDH1	ODAD4	MT-ND5	GRN	MERTK	GNAT1	ACO2	COX7B	RP2	CACNA2D4	HCCS	MKKS	RBP4	PMM2	SDCCAG8	RBP3	FOXJ1	NME8	TRPM1	SLC19A2	BCS1L	DPAGT1	ODAD2	ALPK1	IDH3B	IFT74	CRYAB	GPR179	AIPL1	NGLY1	DNAH11	POMT2	RSPH4A	NEK10	MYO6	SYCE1	HYDIN	ATXN2	SPEF2	CFAP298	PEX16	RSPH1	HACE1	RSPH9	BBS2	POMGNT1	ABCA4	MT-ND4	CNGB1	DNAAF2	ARMC9	TOPORS	RNU4ATAC	PRPF3	ALG6	TMEM231	CDHR1	POC1B	ADAM9	GNB3	UBE3B	ZMYND10	PRPF6	CTSD	MT-ND2	PEX19	TRIP13	MT-TE	RDH12	LRRC56	IQCB1	CIB2	MVK	OTX2	MYO5A	MFRP	HSD17B10	TELO2	DNAL1	RDH5	B3GALNT2	AP3B2	RRM2B	PEX7	GUCA1A	DNAAF3	ARL2BP	SLC7A14	FAM161A	WHRN	NEK1	ASPA	CCDC40	DNAJC21	ATXN7	DNAH9	GUCY2D	NEK2	DNAAF11	NRL	ADGRV1	MT-TW	FDXR	PPP2R3C	ANK1	CRB1	MT-ND3	RAB28	DHX38	EYS	INVS	BBS4	ZNF513	TMEM218	REEP6	MYO7A	BBS1	DRC1	CERKL	ODAD1	TUBGCP6	RP9	ACBD5
HP_BUPHTHALMOS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BUPHTHALMOS	SBF2	OCRL	AKT1	POMT1	SH3PXD2B	TWIST1	FUT8	NDP	CYP1B1	FGFR2	PTEN	ATOH7	MAB21L1	POMGNT1	FKRP	ADAMTSL1	LARGE1	GNAQ	GLIS3	FKTN	DAG1	PXDN	NCAPG2	FZD4	POMT2
HP_RIEGER_ANOMALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIEGER_ANOMALY	CTBP1	PAX6	NSD2	IGF1R	PIK3R1	LETM1	CPLX1	LAMB2	FGFRL1	PITX2	FOXC1	ADAMTSL1
HP_CORNEAL_SCARRING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORNEAL_SCARRING	TGFBI	NTRK1	MMP1	CREBBP	ZNF469	POLA1	GJB2	COL7A1	DST	PRDM5	NCAPG2	PRDM12	MPV17	NGLY1	COL17A1	UROS	ERCC4	EP300
HP_LACRIMAL_DUCT_ATRESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACRIMAL_DUCT_ATRESIA	TP63	PAX3	NDUFB11	SMCHD1	IGSF3
HP_CHORIORETINAL_COLOBOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHORIORETINAL_COLOBOMA	VPS35L	CEP290	CCDC22	BCOR	AKT1	YAP1	ZEB2	SEMA3E	PAX6	RERE	SPTBN1	TMEM138	CHN1	RPGRIP1L	SIX6	ACTB	CASK	NAA10	TMEM216	CHD7	GDF3	SHH	TBX22	SALL4	C12orf57	CC2D2A	HHAT	INPP5E	SALL1	PORCN	BMP4	WASHC5	ZNF423	PTEN	TMEM237	RBP4	TMEM67	WAC	HMX1	GZF1	TMEM231	CLDN19	MAFB	DACT1	SIX3
HP_ABNORMAL_SACCADIC_EYE_MOVEMENTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SACCADIC_EYE_MOVEMENTS	SLC1A3	VPS41	PNKP	FXN	EEF2	DHX16	GRM1	GDAP2	AFG3L2	TNFSF11	GBA2	MAPT	ATP2B3	VAMP1	COQ5	SNCA	PDYN	SLC44A1	SOX3	PRDX3	ATP13A2	VPS13D	NKX6-2	TGM6	SYNE1	MFN2	SLC6A3	MME	ANO10	AGTPBP1	MYORG	NDUFS2	ELOVL5	CACNA1G	INPP5E	PLA2G6	ATP1A3	TMEM216	TUBB4A	ITPR1	NDUFB8	SURF1	TMEM240	SHMT2	FRMD5	TPP1	CLCN7	NDUFAF3	PEX10	FBXO7	GJC2	ATXN1	TNR	VPS13A	ATP1A2	PRNP	DARS2	DNAJC6	ATXN7	SLC35A2	KIF1A	APTX	MECR	CACNA1A	SNX10	SCP2	NOP56	SCYL1	SPTBN2	GBA1	ATXN2	C19orf12	KCNN2	SYT2	CHP1	MRE11	ALS2	PIK3R5	TUBB3	UBAP1	TCIRG1	ATXN3	SCO2	PEX2	NPHP1	KIF1B	PLD3	XRCC1	ATXN8OS
HP_HYPOMETRIC_SACCADES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOMETRIC_SACCADES	MME	NKX6-2	SPTBN2	MYORG	GBA1	CACNA1G	GRM1	PLA2G6	NPHP1	SLC1A3	TUBB4A	APTX	MAPT	MRE11	COQ5	DNAJC6
HP_VISUAL_LOSS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VISUAL_LOSS	LRP2	MT-ND4	PRPS1	ADGRV1	CFH	SMARCE1	CLN8	SH3BP2	MT-TS2	POLA1	BAP1	GATA2	PRDM5	MT-ND2	TCF4	VRK1	PEX7	TPP1	KCTD7	C19orf12	OPA1	NDUFB11	MT-CO3	TIMM8A	TRIM44	MT-ND6	FOXC1	SOST	LSS	AHI1	IFT140	VCAN	UCHL1	MERTK	COX6B1	ARL3	ARSG	MT-TH	COX7B	MYOC	COL7A1	EFEMP1	MYO7A	IL2RB	GNAS	MT-TL1	SLC25A46	CLRN1	DCN	NPHP3	COL2A1	TAT	LTBP2	GJB2	ESPN	HCCS	SMO	PPT1	RHO	RAX2	HLA-DRB1	COL17A1	NHS	KARS1	IL2RA	AGBL1	AIP	HADHA	CLCN7	XYLT2	MT-CO1	MT-ND1	SLC19A2	ATP1A3	MFSD8	PDGFB	PRPH2	EXOSC8	POLG	ALPK1	CFHR1	ALMS1	CDH23	EXOSC9	RS1	PMPCB	CARS2	HSD17B4	PCYT1A	PGK1	ELMO2	MT-ND5	USH1C	HLA-A	OAT	GALC	TCOF1	COL8A2	CTNNB1	MT-CYB	AKT1	FA2H	BRAF	SRD5A3	NEU1	PEX13	KIF11	KIAA0586	ZNF408	KIAA1549	NF2	CCND1	POLG2	FLVCR1	CSPP1	CLN3	PTPN2	MKS1	CD247	INPP5E	CA2	MT-ND4L	ZNF469	ABCA4	TUBB3	CEP41	PLA2G6	KIF1A	NHLRC1	WAC	RLBP1	MTTP	TRAF3IP1	USH1G	CEP164	TGFBI	PNPLA6	CDHR1	ZNHIT3	C1QTNF5	MT-TQ	CFAP418	LCA5	NOD2	PHYH	TEK	CTSD	SPTBN1	PAK2	ST3GAL5	DNM1L	AGTPBP1	ZEB1	COL18A1	PIK3CA	TERT	APOE	COQ2	NBAS	SMARCB1	HSD17B10	EPRS1	SF3B1	CHM	HARS1	DNAJC30	STAT4	CYP4V2	GUCA1A	LAMC3	EXOSC3	CFI	MFN2	NPHP4	ABCD1	WDR19	GNA11	EPM2A	RDH11	NDUFS2	TREX1	CEP120	SPATA7	PSAP	PTPN22	ATXN7	NOTCH3	CLN5	SMCHD1	TNFRSF11A	CYSLTR2	RP1L1	CIB2	GUCY2D	FBN1	ADAMTS10	VHL	GJB6	CLN6	SLC52A2	MEN1	WHRN	PCDH15	HMCN1	MMP1	GNAQ	TRAF7	SUFU	SON	MT-CO2	BCOR	SDCCAG8	CEP78	MT-TF	BTD	CFHR3	NF1	USH2A	TIMP3	MT-ATP6	PAX6	CEP290	FGFR2	INVS	HLA-B	RDH5	TFG	SEMA4A	SLC4A11	SOX2	P4HA2	PDZD7	NPHP1	MT-TW	CYP1B1	IQCB1	ANKRD55	TBC1D24
HP_RETINAL_HEMORRHAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_HEMORRHAGE	ABCC6	IKBKG	EFEMP1	MYD88	TERT	GCDH	HMCN1	DST	TREX1	ATP6V1E1	CFI	COL4A1	IFNG	APOE	ERCC8	SBDS	TERC	DNM2	ATP6V0A2	XYLT2	ERCC6	CFH	PRF1	CFHR3	ENPP1	LAMB2	XYLT1	CFHR1	ATP6V1A
HP_THICK_EYEBROW	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICK_EYEBROW	BRD4	RAD21	MEF2C	MN1	MGAT2	IARS2	TMCO1	CLCN3	FBXL4	CTCF	KCNK4	CUL7	SPTBN1	GPRASP2	FREM1	HECW2	PDCD6IP	EP300	LAS1L	GNB2	ACER3	NBAS	PAX3	UBR7	SMARCB1	ABCC9	ABCA5	H4C5	HMGA2	DOCK7	SMARCE1	FUCA1	WAC	ATP6V1B2	FRMD4A	MBD5	TAF6	SOX4	KCNH1	SATB1	CNOT2	HDAC8	WNT4	ARID1B	TASP1	SLC9A6	DNMT3A	PSMC1	CHD1	SUMF1	PUF60	SMARCA4	CDON	CHST3	KCNN3	CDH11	DDB1	SMC3	KCNJ8	AFF4	ANKRD11	GNS	EXT1	CCDC8	OBSL1	SMARCA2	NFIX	SMC1A	SLC6A17	CDK13	TAF1	VPS13B	MAPK8IP3	BPTF	NOTCH2	CHMP1A	CREBBP	NRCAM	TFAP2B	ARID2	KIFBP	SLC35A2	FOXL2	RPS23	PPP1R21	KNL1	SPECC1L	TRPS1	PHF6	KMT2C	RUSC2	TP63	MAN2B1	NSUN2	ERLIN2	PSMD12	AIFM1	FBXO31	BCOR	SHANK3	NIPBL	LEMD3	TBL1XR1	SOX6	SIM1	SMAD4	CPLX1	DPF2	ASXL3	RNF125	SLC25A24	TUBGCP2	KMT2A	SOX11	KDM5C	ARID1A	SMARCC2	TRIO	RET	PRR12	GUSB	CWF19L1	EBF3	PRKG2	IDUA	AUTS2	MAGEL2	B3GAT3	BCAS3	COL1A2	RALGAPA1	ZSWIM6	BICRA	SPEN	RPS6KA3	RBM10	SMARCD1	TBCK	SETD1B	PHIP	MAP3K7
HP_SCOTOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCOTOMA	ADGRV1	OPA1	MT-TS2	RLBP1	OPA3	MT-ND5	MT-ND2	CYP1B1	DNM1L	ATP1A2	CNNM4	MT-ND6	ABCA4	PROM1	GNAT2	MT-CO3	TIMM8A	HARS1	DNAJC30	CYP4V2	RP1	ARSG	PITPNM3	MFN2	TRNT1	MT-ND4	MTRFR	ATF6	EFEMP1	MYO7A	RP2	CLRN1	PDE6C	ESPN	NDUFS2	SLC25A46	RHO	MFSD8	HKDC1	IMPG2	RBP3	MT-ND1	TMEM126A	MT-CO1	RPGR	FDXR	CFH	CIB2	MT-CYB	PRPH2	WHRN	PCDH15	CDH23	CFAP410	USH1C	HLA-A	MYOC	ELOVL4	CEP78	BTD	USH2A	RAB28	PDE6H	MT-ATP6	PRRT2	CACNA1F	MT-ND4L	CRX	KCNV2	ITM2B	CFI	PRPF3	RDH5	MTTP	USH1G	CNGB3	CACNA1A	PDZD7	RTN4IP1	C1QTNF5	POC1B	FLVCR1	CNGA3	ACO2	SCN1A
HP_CENTROCECAL_SCOTOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTROCECAL_SCOTOMA	MT-ND6	MT-CYB	MT-ATP6	MT-ND4	OPA1	MT-ND1	MT-CO1	MT-ND4L	MT-CO3	DNAJC30	MT-ND5	NDUFS2	MT-ND2
HP_NASOLACRIMAL_DUCT_OBSTRUCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NASOLACRIMAL_DUCT_OBSTRUCTION	SIX1	CREBBP	EP300	PRR12	CD151	TFAP2A	MED12	FREM1	NHP2	NOP10	TET3	SMC3	YY1	FGFR2	PTDSS1	KAT6A	TCOF1	KNSTRN	HMX1	TAF1	TP63	PIK3CD	SOX6	USB1	EYA1	SPRED2	PAX1	MEGF8	IGSF3	PPP1CB
HP_PIGMENTARY_RETINOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PIGMENTARY_RETINOPATHY	MT-ND4	NDUFV2	FSCN2	BBIP1	HK1	PNPLA6	LCA5	IDH3A	NDUFA9	MMACHC	TULP1	CNNM4	PRCD	PANK2	RAX2	MT-ND1	BBS10	BBS12	ARL6	CEP19	NDUFS7	IMPDH1	MSTO1	MT-ND5	GUCY2D	CTNS	AGBL5	WFS1	NDUFA13	SDHA	MT-TH	NPHP1	LZTFL1	MT-TL1	RP2	PDE6A	MORC2	BBS5	COX15	MKKS	RHO	ERCC4	RBP3	ERCC8	NDUFA2	HADH	PEX1	ARL13B	POMT2	MFSD8	JAG1	NDUFA12	MTFMT	IDH3B	POLR3A	NDUFAF2	ZNF408	ALMS1	POMT1	BEST1	WDPCP	NDUFB11	CFAP418	LARGE1	MECR	NGLY1	BBS1	AMACR	CYP4V2	FOXRED1	MAK	NR2E3	SDCCAG8	CLRN1	NCAPG2	MKS1	KIAA1549	MT-ND6	NMNAT1	FLVCR1	MT-ATP6	CLN3	TRIM37	NDUFA10	BBS9	ABCA4	FKRP	CRX	COA8	PISD	CNGB1	MED12	NOTCH2NLC	ERCC6	HADHA	RPGR	RLBP1	MT-TS2	USH2A	ISCA1	SAG	PCARE	NDUFS3	PEX2	POC1B	MT-TQ	NDUFA4	HCCS	BBS2	NDUFS2	RNU4ATAC	IFT140	MT-ND2	NDUFS1	RDH12	LIPT1	TRIM32	PRPF8	ROM1	PDE6G	ZFYVE26	SCAPER	MFRP	CAV1	ARL3	MT-CO1	SDHB	TACO1	RP1	POMGNT1	CLCC1	IFT74	ARSG	CHM	NDUFV1	GSS	PDE6B	RRM2B	SLC19A3	PDHA1	KIZ	GMPPB	HKDC1	FAM161A	MT-TV	NDUFS8	MT-TK	VPS13B	SPATA7	GRM6	RP1L1	CCDC28B	PET100	ATXN7	RPE65	IMPG2	IFT27	SURF1	NDUFAF6	IFT172	SDHAF1	PRPF31	PRPH2	MT-CO2	COX7B	PEX5	MT-TW	MT-TN	BBS7	CRB1	TTC8	PROM1	MT-TF	AIRE	MT-ND3	COX8A	ERCC3	SNRNP200	HADHB	TIMP3	AHI1	LRAT	SDHD	DHX38	BBS4	EYS	ZNF513	PRDX1	RNASEH1	CEP290	ECHS1	RDH5	NDUFS4	SEMA4A	ACOX1	MT-CO3	NDUFAF5	RP9	CNGA1
HP_BLEPHAROPHIMOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLEPHAROPHIMOSIS	PAX3	DNAJC30	SOX9	ERCC6	NSUN2	MECP2	MYCN	ESS2	ODC1	VPS37D	DGCR2	RERE	CUL4B	UGDH	RBMX	BCR	RIPK4	MED12	RAB18	KCTD1	FANCD2	FAT4	MEG3	HDAC4	COLEC10	GPKOW	SALL4	RECQL4	METTL27	SETD5	FOXG1	ELN	BRCA1	DLK1	UBE3B	TBC1D2B	STAC3	CEP152	SMARCA2	DNMT3A	DGCR8	SMOC1	SCARF2	ORC1	TBL1XR1	ALG14	LIG4	GTF2IRD1	PRIM1	GJA1	SF3B2	TBX15	DCHS1	CEP57	BUD23	NFIB	DGCR6	TBX1	CDK13	MYL11	HSPG2	PIEZO2	KCNJ2	IRX5	BAZ1B	TP63	ERCC1	KRAS	SLC6A17	PHF6	CREBBP	DDR2	BCL7B	SLC2A10	MLXIPL	MAPRE2	FOXL2	GATAD2B	NCF1	CHN1	MASP1	EP300	MYH3	CRKL	KANSL1	BCOR	SMO	EIF4H	SLX4	ALX4	GTF2IRD2	HUWE1	LIMK1	COLEC11	MCTP2	FKBP6	ANK1	HHAT	RTL1	SMAD4	TXNL4A	RHOA	RFC2	WDR35	KAT6B	TBL2	ZFHX4	TLK2	TMEM270	MUSK	BRPF1	GTF2I	FOXP1	ATR	ATP6V1A	MAFB	HNRNPH1	ZMPSTE24	CLIP2	SEPTIN9	SALL1	MOGS	TUBB	MAPK1	STRA6	GPC6	DACT1	COL25A1	STX1A	KMT2A
HP_UPSLANTED_PALPEBRAL_FISSURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPSLANTED_PALPEBRAL_FISSURE	ADAT3	MEF2C	FANCB	NSD2	STIL	HS2ST1	SASS6	NSDHL	UBE2T	DEAF1	HNRNPU	QRICH1	MKRN3	HIVEP2	PHC1	MAP3K7	PIGY	TRAPPC10	ASXL3	MCM7	PYCR2	EHMT1	MTSS2	PIGV	DVL3	IFT140	PGAP1	FZD2	MEGF8	TBX1	SPECC1L	DHCR7	NDUFS4	TCF4	WNT5A	GP1BB	KIF14	PEX3	H4C3	PAK3	RREB1	FGFR2	AHDC1	NARS1	BCL11B	CHD4	PEX1	FANCL	HNRNPR	PMM2	PHIP	CD96	JAG1	AP3B1	PEX6	PALB2	TRAPPC14	ANKLE2	CDC42	CREBBP	NRCAM	POLR3A	STEEP1	MAPRE2	BRCA2	LMNB1	DVL1	HSD17B4	PPP1R21	TRIP12	PEX19	PEX7	FBXO31	KNL1	IQSEC2	AGO2	RAB11B	TBCD	RERE	DLX4	KIF11	SMC1A	PURA	CLTC	C2CD3	EFTUD2	DYRK1A	FLII	RAD51C	ATAD3A	TUBGCP2	PQBP1	FANCD2	PCNT	DPH5	GATA1	TMCO1	KDM5C	UBE2A	PEX13	TRIO	ZNF526	BLTP1	MAD2L2	CENPJ	COPB2	NFIX	EBF3	FANCA	FANCI	RAI1	PIGO	DONSON	MED13L	GATAD2B	SLC30A9	PRDM13	TOE1	BPTF	HERC2	MINPP1	BRIP1	PIGN	FIG4	THOC6	WDR62	TUBB	KANSL1	XRCC4	NCAPD3	ZC4H2	BICRA	TFAP2A	CHD5	SPEN	TRRAP	RFWD3	XRCC2	HHAT	CIT	MAF	ROR2	ADAMTSL2	ZNF148	AUTS2	PPP1CB	IL1RAPL1	UBE3B	ZIC2	FGFR1	NPAP1	TAF13	PRKAR1B	MYCN	EXOSC2	ZNF292	GATA4	KDM4B	CDC42BPB	SNORD115-1	SPTBN1	PIGB	TBX6	DLG3	ADAMTS3	SNRPN	RIPK4	PTCH1	PWRN1	PEX11B	NR2F1	KAT8	DPYD	RTTN	GNB2	HIRA	PCDHGC4	NBN	LIG4	IGF1R	TELO2	MEIS2	CHAMP1	H4C5	SNORD116-1	PWAR1	ZMYND11	PEX12	CACNA1G	SETD5	NOG	CNOT2	BRCA1	H3-3A	EXOC2	ARVCF	PUF60	SMS	CDK6	RDH11	TOR1A	ALG2	DDB1	COG1	PEX5	PEX10	EIF2AK3	FANCF	HDAC4	CCDC32	HERC1	UQCC2	ADARB1	B3GLCT	RAD21	ATRX	PGAP2	CDK13	CCDC22	CERT1	MECP2	CTU2	MAPK8IP3	MCPH1	CDK5RAP2	COG7	PEX2	VAC14	COMT	POLR3GL	ASXL1	PARS2	ANKRD11	HBB	POLA1	PPP1R12A	ZMIZ1	SEC24C	GJA5	WASF1	GJA1	ASPM	PEX14	EP300	IFT57	LMBRD2	FANCM	PHF8	SLX4	PEX16	MAGEL2	PGAP3	H4C11	TTC26	PIGT	PIGW	MFSD2A	ALX4	PIGA	AP1S1	DYNC1I2	HUWE1	ERCC4	USP9X	ANKRD17	MCTP2	CEP152	PIGL	ANK1	SIM1	SCNM1	CEP135	NXN	GJA8	WDR35	COL3A1	TLK2	OCRL	COPB1	MRPS2	METTL5	ARID1B	JMJD1C	PLPBP	NONO	FANCE	GAD1	FANCG	EBP	SEPTIN9	PEX26	CEP63	POGZ	RAD51	TBCK	UFD1	FANCC	BUB1B	CNOT3
HP_BAND_KERATOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BAND_KERATOPATHY	COL18A1	PTPN2	CD247	GNAS	IL2RB	SLC4A4	VSX1	STAT4	JAG1	OVOL2	IL2RA	PTPN22	ANKRD55	NOD2
HP_SHALLOW_ORBITS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHALLOW_ORBITS	SHPK	GNPTAB	HNRNPK	FLNB	HYMAI	ESCO2	INPPL1	POLA1	FGFR2	TWIST1	MTX2	SETBP1	PLAGL1	SIN3A	FGFR1	ZMPSTE24	HERC1	MITF	NFIX	SKI	KCNJ6	PLOD3	ALG9	LEMD2	CACNA1C	SERPINH1	P4HB	MAF	ADAMTS10	LMNA	FBN1
HP_ABNORMALITY_OF_THE_OPTIC_NERVE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_OPTIC_NERVE	AMPD2	NLRP3	MT-ND4	MGP	NDUFA9	SEMA3E	KCNJ13	POU1F1	RGR	IL11RA	IDH3A	EEF1A2	PRPF4	RPGRIP1	MFN2	PDSS1	GABRA5	CNNM4	PRCD	SERAC1	B9D2	ZIC1	B3GALNT2	PAX6	MT-ND1	OPA1	NEFL	MT-CO3	SALL4	NDUFS7	FZD4	PRKAR1A	FKRP	DGUOK	VCAN	SLC7A14	TCIRG1	NDUFAF2	OCA2	SPOP	PCARE	NSD2	AFG3L2	RNF113A	PEX10	NDUFA13	COX7B	AAAS	SH3TC2	GP1BB	PEX3	PDE6A	SLC25A46	COX15	LETM1	KLC2	PPT1	EIF2B5	NTRK2	MFSD8	CHSY1	ZEB2	TNFRSF11A	GPR161	NDUFA2	RBM10	STAMBP	TMEM126A	DAG1	NDUFAF8	FDXR	NFIX	VPS33A	NAGA	HK1	PRPS1	TBCE	CRB1	NRCAM	POLR3A	ZNF408	ERCC5	CACNA1A	EXOSC9	ARL3	RPS6KA3	CHN1	MT-ND5	PEX5	CFAP410	PSMD12	MECR	USP8	YWHAG	RP2	FDX2	GALC	ERCC8	POMT2	KIF11	INTS8	MAK	GLRX5	APC	GMPPB	NDUFA1	PIK3CA	ATAD3A	NMNAT1	MT-ND6	TUBGCP2	LARGE1	PEX6	DNMT1	RNU7-1	POMGNT1	SOX3	CCND1	EIF2B4	IGBP1	MT-ATP6	CSPP1	GLI2	LHX3	MT-ND4L	TMTC3	DDHD2	NDUFV2	SOX5	COL4A1	KIF1A	MT-TQ	ABHD12	WT1	MT-TL1	SLC30A9	GRIA4	MACF1	POMGNT2	MMUT	MINPP1	USP48	ERCC3	TRRAP	SCYL2	GABRA2	POMT1	MAFB	IL12A-AS1	NR2E3	GNA11	MAN2B1	PPP1CB	CRPPA	LCA5	CPAMD8	DPM2	NDUFS4	IKBKG	TANGO2	GPAA1	TNFSF11	PIGB	OPA3	TLR7	TULP1	GUCY2D	SNRNP200	GGCX	AGTPBP1	GABRD	FGF12	ARSA	PLA2G6	PRPF8	PDE6G	NBAS	SCAPER	LHX4	SMARCB1	SCN3A	TCTN3	DDB2	SEMA4A	HESX1	CLCC1	ERCC2	UBE3B	ACTB	FCSK	IBA57	NRL	SLC19A3	LRP5	C1QTNF5	PDHA1	TBC1D24	CDH11	ALDH1A3	TYR	POLG	SURF1	CISD2	SALL2	USH2A	FANCI	WNT3	WFS1	PLP1	ANTXR1	MTOR	NDUFS8	ATXN1	VPS13B	SPATA7	HCN1	NDUFS1	ASXL1	VHL	DARS2	CCDC22	MT-CYB	BEST1	LRAT	MT-TH	FGFR2	SEC24C	TRAF7	SLC52A2	OTX2	IMPG2	RPGRIP1L	MOGS	IMPDH1	MICU1	GP1BA	TIMM50	CASK	PEX16	SON	ATP6V1A	ABCG8	DNM1L	CKAP2L	RBL2	KIF14	FKTN	PEX11B	SNX10	TMEM53	SLC13A5	ERCC6	AUH	DYRK1A	MT-TF	RHOA	KLRC4	FAM111A	AHI1	WDR45	PSAP	KIZ	POLR3K	NDUFAF3	FGFR1	IFT74	ARV1	PEX1	TOPORS	ELP1	HNRNPH1	PDE6B	TWNK	PEX12	FZR1	SYNJ1	IFT140	PTF1A	FDFT1	LYRM7	PIK3CD	FLVCR1	ACO2	CNOT3	P4HTM	ASPA	CERKL	PCYT1A	WARS2	CPSF3	WDR4	KCNK4	SCN8A	GATA2	FA2H	FAM161A	IL10	GUCA1B	TUB	NAA10	NECAP1	KCTD7	C19orf12	RAB18	WDR11	TCTN2	PEX13	CSF1R	TIMM8A	FGF13	MTSS2	SOST	ATP1A3	INPP5E	XYLT1	SYNGAP1	ADAM22	TBX1	MAG	STAT4	TGFB1	GLA	ARHGEF18	PLEKHM1	DHDDS	ADAR	OSTM1	MTPAP	RBP3	ERCC4	CPLX1	MT-CO1	PRPF3	FGFR3	PDGFB	MAP2K2	DPAGT1	EXOSC8	EXOSC5	TBC1D20	SDHD	ERAP1	FH	IDH3B	YME1L1	PCYT2	IFT172	MTFMT	PMPCB	ABCA4	PPP1R21	MAPKAPK5	PEX19	IDS	POLR3B	RAB3GAP2	BCOR	RP9	FOXRED1	SLC6A9	TACO1	IFNGR1	RERE	ABCC6	BRAF	HARS1	PPP3CA	KIDINS220	OFD1	EIF2B1	TMEM216	MT-RNR1	RECQL4	CLN3	WDR73	PROM1	PISD	GABRB2	DKC1	BRAT1	PIGG	SMG8	STX3	ALG13	CCDC88A	ATP1A2	NDUFB9	TUBGCP6	B9D1	DOCK6	TOE1	DDX11	MSTO1	TUBB4B	USP45	ROBO1	RTN4IP1	DPYD	TMEM67	POC1B	NDUFA11	GBA1	NDUFB3	HLA-DRB1	NDP	SLC45A2	CFAP418	NUP62	BBS2	HNRNPK	STT3B	NDUFS2	CEP290	KCNA2	PLAA	CNGA1	ST3GAL5	LIPT1	NDUFAF5	VPS53	DNAJC19	PEX2	CEP85L	TERT	PERCC1	MYO5A	ACER3	HIRA	GNAT1	HSD17B10	DNAJC30	PRKCZ	TSC1	CACNA1C	C4A	MT-ND3	PROP1	LDLR	MTO1	TMEM222	PPP2R1A	SPG7	AP3B2	GRID2	IL23R	SOX2	RRM2B	WASHC5	DNMT3A	ARVCF	MEFV	PUF60	ARL2BP	SLC38A8	NR3C1	BBS1	TYRP1	POU3F4	MKS1	CTC1	WWOX	SELENOI	SMO	MT-TK	SNAP29	GATA3	TMEM63A	MT-ND2	KCNB1	DPM1	CLTC	PARS2	OGDHL	TRAPPC11	GDF6	SAG	RAB3GAP1	CLDN11	NDUFS3	POMK	MICOS13	SIX6	VPS11	UBE4B	MT-TW	PEX26	MT-TN	HGSNAT	ERCC1	SH3BP2	ADA2	RPE65	EXOC8	PIGU	CRX	CACNA1F	MFF	JAM3	AIFM1	EMC1	CYFIP2	EYS	JMJD1C	NOTCH2NLC	SDHA	NT5C2	TK2	MAP2K1	ARX	CLN8	AP1S2	CC2D2A	RPGR	SLC25A19	PORCN	AIPL1	AHR	PCSK9	CTBP1	PRICKLE3	RSPO2	TFG	FSCN2	PCLO	MEF2C	SMARCE1	NDUFB10	ARSL	NDE1	DNM1	HNRNPU	CYP1B1	CASZ1	CACNA2D1	CDK19	VPS41	TLR4	B4GAT1	PRPF31	KRAS	ACADS	NARS2	DIAPH1	ASB10	TSC2	IQCB1	PDHX	COL18A1	TRNT1	DHCR7	ATN1	HSPG2	GLB1	ZNF592	CASR	TBC1D7	TUBB4A	NDUFB8	EIF2B3	TUBA8	ISCA2	RREB1	KAT6A	PLK4	ALG3	CLCN7	REEP6	HMX1	ACTL6B	EPCAM	NUBPL	KCNC3	TCTN1	SLC29A3	CTNNB1	RDH12	NDUFA12	SSBP1	GFM2	FLRT1	YAP1	NDUFC2	GJA1	IMPG1	CLRN1	BAP1	TRAPPC12	GDF3	SCYL1	PRDM16	KNSTRN	SRD5A3	C2CD3	TEK	AGBL5	ARNT2	KIAA0586	CYP27A1	XPC	NF2	PRPH2	TMEM106B	NDUFA10	CA2	PDPN	BLOC1S3	CDC42	RIMS2	COA8	MMP14	INPP5K	NALCN	CLP1	TTC8	FRMPD4	GATAD2B	SCO2	CDH23	MT-TS2	ATP6V1B2	NEU1	PTEN	ZNHIT3	RXYLT1	NDUFA4	ERF	KIF7	FANCB	MCOLN1	PRUNE1	NDUFV1	RTTN	CHD7	HLA-B	EPRS1	TUBGCP4	PANK2	RP1	ARHGEF2	POGZ	EIF2B2	EPG5	TASP1	EXOC2	TMEM126B	TSPAN12	MPLKIP	CENPF	FXN	APOB	ROM1	PIEZO2	MTRFR	PTPN22	PI4KA	MT-TV	ATRX	CA4	AARS1	NDUFAF1	MMP23B	MMP19	ZNF513	TRAK1	RP1L1	RLBP1	COMT	ANKRD11	TNFRSF11B	PET100	LAMB1	ABCG5	MC1R	KLHL7	CDON	PAX2	SIL1	B3GALT6	HUWE1	PEX14	TBC1D2B	CBS	PTCD3	NDUFS6	GNAQ	MERTK	NDUFA6	MT-TP	ZPR1	BTD	ITM2B	CELF2	NDUFAF4	P4HA2	ACOX1	FOXA2	ALG8	MPDU1	CNGA3	PCK1	TXN2	HIKESHI	ELP4	CLCN3	RFC1	GLYCTK	GJC2	PNPLA6	LDLRAP1	MPDZ	VRK1	SLC44A1	TXNDC15	DDX59	RAX2	RNF170	CACNA1B	PRPF6	TMEM107	SPEN	UCHL1	GRN	THG1L	SKI	TP53	CNKSR2	SUMF1	AFF4	AKT3	UQCRFS1	PTPN23	SLC19A2	ARL13B	XYLT2	PROKR2	ACTG1	SBF2	KIAA1549	ELOVL1	MMACHC	SEC31A	SLC38A3	GTPBP2	SPINT2	NEK2	NGLY1	HLA-A	TWIST1	RAB11B	TBCD	LUZP1	AKT1	MYOC	ATG7	SZT2	TMEM237	MBTPS2	RD3	GEMIN4	POLG2	TUBB3	RNF216	CDHR1	KCNAB2	MED12	ALDH1A2	RNF135	MID2	NELFA	ARL6	HHAT	PRORP	SEC23A	DARS1	NOD2	IFT88	ALMS1	CDC42BPB	SLC39A14	NIPBL	IER3IP1	CNGB1	MVK	NR2F1	TSFM	DENND5A	STAG2	MFRP	RAB23	TUBA1A	L2HGDH	TIMMDC1	DALRD3	EXOSC3	ATIC	IL12A	XPA	TMEM98	TPI1	BOLA3	CLCN2	TOR1A	BCAP31	COG6	SARDH	NOTCH3	MMP2	AGXT	GABRG2	TMEM231	SMOC1	ATXN7	NDUFAF6	CCR1	SUFU	KANSL1	MT-CO2	RPIA	GRIN2D	B3GLCT	PLXNA1	EFEMP1	RHO	NEDD4L	DHX38	MRPS34	TRIT1	GABBR2	LRP4	OTUD5	ECHS1	UBA5	UBAC2	NUS1	NDUFB11	SLC1A2	ESPN	GMPPA	VSX1	CYP7B1	UFD1	FAS	MTHFR
HP_OPTIC_DISC_COLOBOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPTIC_DISC_COLOBOMA	IGBP1	BCOR	ACTB	INPP5E	PAX6	TMEM216	RPGRIP1L	SPINT2	NIPBL	NAA10	SALL2	PAX2	DDX59	DDX11	PERCC1	EPCAM	SMO	SALL4	C2CD3	CC2D2A	TRRAP	TMEM67	HHAT	ACTG1
HP_COLOBOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COLOBOMA	VPS35L	CEP290	BCOR	LRP2	KATNIP	LCA5	SEMA3E	ELP4	TGIF1	ATOH7	MPDZ	NAA10	VSX2	DDX59	SUFU	KIFBP	POLR1C	BMP4	PAX6	WASHC5	EIF3F	KIAA0586	SALL4	CRPPA	KRAS	CTBP1	AHI1	GDF6	RAB18	PIGL	INPP5E	FKRP	PIBF1	ROR1	ASXL1	ARMC9	NSD2	CRYBB1	FGF3	DHCR7	FBXW11	AAAS	FGFRL1	CBY1	DISP1	CRYAA	RBP4	TMEM67	TBC1D23	ZEB2	WAC	HMGB3	POMK	TMEM237	NODAL	ALG3	PDE6D	CPLX1	HMX1	EPCAM	CSPP1	TMEM138	GZF1	SRD5A3	IGBP1	DAG1	CC2D2A	ACTG1	TBC1D20	MED12L	YAP1	CREBBP	MAB21L2	POMT1	MMACHC	FGFR2	SMCHD1	VPS13B	CRYGC	NDUFB11	CHN1	SPINT2	LETM1	PTCH2	RAB3GAP2	POMT2	SMO	HYLS1	TMEM218	TBX22	PTCH1	GDF3	RERE	SHH	PRPS1	MKS1	SIN3A	GMPPB	C12orf57	C2CD3	GJA8	DYRK1A	MBTPS2	NMNAT1	CRYGD	LARGE1	HNRNPK	POMGNT1	CPLANE1	PORCN	TRIM37	ARL13B	CEP41	CHD7	COL4A1	MMP14	PIGG	MED13L	PCYT1A	ALG2	DDX11	POMGNT2	TFAP2A	PQBP1	CRYBA4	DPYD	TRRAP	NELFA	DLL1	FGF8	TMEM231	MAFB	HHAT	RXYLT1	PAX2	HCCS	FIBP	ERF	ESCO2	CLDN19	FGFR1	SPTBN1	KIF7	SIX6	NIPBL	KDM6A	KMT2D	TMEM216	OTX2	PRMT7	PERCC1	MITF	CAPN15	KCTD1	POLR1D	TCOF1	TOGARAM1	POGZ	PNPLA6	SALL1	ZIC2	B9D2	B3GALNT2	MIR204	GLI2	FLNA	PACS1	NOTCH3	ACTB	SOX2	MAN2C1	ZNF423	PUF60	PTEN	ALX3	CENPF	CEP120	ALDH1A3	RB1	SALL2	SIX3	WNT3	POLR1B	B3GLCT	WDR37	INTS1	MMP2	CEP104	SPATA7	MAF	TCTN1	NPHP1	FKTN	CCDC22	TRAPPC11	AKT1	ABCB6	ARL3	SATB2	RAB3GAP1	EP300	ZMIZ1	NRAS	RPE65	NOTCH2	B4GAT1	RPGRIP1L	TDGF1	CASK	FLI1	FOXH1	ATP6V1A	SPECC1L	COX7B	CRB1	TCTN2	HRAS	TENM3	ANK1	CDON	FOXE3	LRAT	GNAQ	PRR12	DHX38	CRYBB2	TBR1	GAS1	GMPPA	ADNP	B9D1	DACT1	RSPO2
HP_PROGRESSIVE_EXTERNAL_OPHTHALMOPLEGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_EXTERNAL_OPHTHALMOPLEGIA	TOP3A	MT-ND4	MT-TL1	OPA1	POLG	MT-ND5	POLRMT	APTX	RRM2B	NOTCH2NLC	C1QBP	MT-CO2	TYMP	TK2	DGUOK	MT-TK	MT-CO1	ATXN3	MGME1	MT-TF	POLG2	MT-TT	DNA2	SLC25A4	VARS2	TWNK	MT-ND6	MT-TH	MT-TL2	GIPC1	RNASEH1	MT-TS2	MT-ATP8	MT-CO3	MT-TN	MT-TW	MT-TQ	MT-ND1
HP_ABNORMAL_SCLERA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SCLERA_MORPHOLOGY	DNASE1L3	NLRP3	ESCO2	FKBP14	DVL1	CTSK	KRAS	ARL2	BMP1	POLRMT	PRDM5	COL3A1	B3GALT6	KDM6A	CLCNKB	UROD	KMT2D	IDS	C1R	PRKAR1A	FBN1	ZNF469	EXOC6B	PRMT7	GNB2	COL1A2	IPO8	MAP3K7	GHR	MFRP	TELO2	SEC24D	ABCC6	TGFBR1	PLOD1	DSE	MVK	COG4	TRMT5	IGF2	DVL3	FZD2	ENPP1	XYLT1	OCA2	MEGF8	TMEM38B	CSGALNACT1	CHSY1	CYB5A	PUS3	COL1A1	ATP6V0A2	WNT5A	PYCR1	CHST3	SLC39A13	GDF11	TENT5A	MBTPS2	TGFBR2	B4GALT7	SLC26A2	SF3B2	CREB3L1	GATA1	HADHA	KDM1A	NFIX	UROS	AKT1	COL5A1	MSX2	UNC45A	TRMT10A	DPAGT1	CYB5R3	PAX1	RMRP	ALPL	POLR3A	KIFBP	VPS4A	BEST1	BCL11A	RPS23	PPP1R21	IMPG2	WASF1	CHST14	COL12A1	P4HB	MC1R	PTEN	CANT1	HGD	SON	PSMB8	PPP1R15B	MESD	PIGT	SERPINH1	NXN	MED27	PPIB	EXOSC1	SLC29A3	TGFB3	IFITM5	INPPL1	ADAMTS2	PGM1	B3GAT3	LRP5	PRSS56	FKBP10	CRTAP	SALL1	FGFR1	WNT1	CA2	DACT1	PRKG2	ROR2	PAX2	IKBKG
HP_BLUE_SCLERAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLUE_SCLERAE	ESCO2	FKBP14	DVL1	CTSK	BMP1	POLRMT	PRDM5	COL3A1	B3GALT6	KDM6A	KMT2D	C1R	FBN1	ZNF469	EXOC6B	PRMT7	GNB2	COL1A2	IPO8	MAP3K7	GHR	TELO2	SEC24D	ABCC6	TGFBR1	PLOD1	DSE	MVK	COG4	TRMT5	IGF2	DVL3	FZD2	ENPP1	XYLT1	MEGF8	TMEM38B	CSGALNACT1	CHSY1	CYB5A	PUS3	COL1A1	ATP6V0A2	WNT5A	PYCR1	CHST3	SLC39A13	GDF11	TENT5A	TGFBR2	B4GALT7	SLC26A2	CREB3L1	KDM1A	NFIX	COL5A1	MSX2	UNC45A	TRMT10A	CYB5R3	PAX1	RMRP	MBTPS2	ALPL	POLR3A	KIFBP	BCL11A	RPS23	PPP1R21	WASF1	CHST14	COL12A1	P4HB	CANT1	SON	PPP1R15B	MESD	SERPINH1	NXN	HGD	MED27	PPIB	EXOSC1	TGFB3	IFITM5	INPPL1	ADAMTS2	PGM1	B3GAT3	LRP5	FKBP10	CRTAP	WNT1	CA2	PRKG2	ROR2	IKBKG
HP_ABNORMAL_ANTERIOR_CHAMBER_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ANTERIOR_CHAMBER_MORPHOLOGY	FOXC1	LCA5	NDP	RPE65	ZEB1	CHST14	MASP1	ATOH7	ASPH	CYP1B1	OVOL2	SRCAP	ELMO2	LOXL1	CHRDL1	B3GLCT	LTBP2	RAB18	PAX6	PIGW	EFEMP1	PIGY	PITX2	COLEC10	MYOC	COLEC11	PGAP3	STAT4	PIGV	FZD4	PIGO	PTPN22	FOXE3	COL8A2	MIR204	LRAT	PTPN2	CD247	IL2RB	IL2RA	PIK3R1	LRP5	HMX1	COL18A1	FGFR1	PGAP2	MITF	VSX1	JAG1	PXDN	SPATA7	TSPAN12	ADAMTS10	GRHL2	FBN1	ANKRD55	PIGL
HP_SHALLOW_ANTERIOR_CHAMBER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHALLOW_ANTERIOR_CHAMBER	LTBP2	RAB18	PIGW	PIGY	NDP	PGAP2	PGAP3	ATOH7	PIGV	ASPH	TSPAN12	FZD4	ADAMTS10	PIGO	FBN1	PIGL
HP_OPHTHALMOPARESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPHTHALMOPARESIS	STIM1	MT-ND4	FSCN2	SMARCE1	NDUFA9	CHRND	RGR	MTMR14	IDH3A	PRPF4	MT-ND6	LRP12	PHOX2A	ACTA1	LRP4	CHRNA1	TK2	MT-ND1	PRPF31	MT-TK	SALL4	NDUFS7	MT-TC	LMOD3	DGUOK	SLC7A14	TCIRG1	NDUFAF2	SYNE1	DNA2	PCARE	RRM2B	ATN1	NDUFA13	EYS	MT-TL1	NDUFB8	COX15	SMO	COX16	AIP	ENG	BBS2	NDUFA2	REEP6	THSD1	MT-TN	GRIN1	POLG	TWNK	NDUFA12	MT-CO1	BIN1	MUSK	TOP3A	GFPT1	CDH23	ARL3	GBA1	CHN1	IMPG1	PIEZO2	GIPC1	RP2	EARS2	CLRN1	FRG1	BAP1	CHAT	MT-ND5	SPEG	MYL2	AGBL5	CRB1	MGME1	PIK3CA	TGFBR3	RYR1	TPM2	ANGPTL6	CHRNE	POLG2	ZFHX4	PRPH2	MT-ATP6	NDUFA10	NF2	RPE65	DOK7	KLHL41	SCN4A	MT-TS2	MT-TW	RNASEH1	TTC8	SCO2	MTTP	HACD1	NDUFS3	DHDDS	MAFB	MT-TQ	NR2E3	NDUFA4	OPA1	LAMA2	SLC25A4	SPATA7	MYO9A	SLC52A3	TULP1	SNRNP200	ISCU	FA2H	SMARCB1	ARHGEF18	TYMP	SEMA4A	NDUFV1	PDE6A	SLC9A6	SLC25A1	NRL	SLC19A3	KCNJ18	PDHA1	LIG3	REV3L	SURF1	CISD2	USH2A	ROM1	MTRFR	COLQ	NDUFAF3	PTPN22	TPK1	MT-TV	MTOR	CA4	NDUFS8	SELENON	ATXN1	PLXND1	ZNF513	RP1L1	RLBP1	ALDH4A1	MTM1	PET100	BEST1	CHRNB1	TPM3	IMPDH1	APTX	KLHL7	SDHAF1	TRAF7	MYH2	PRPF8	DNM1L	ROBO3	MT-TF	ITGA7	PMPCA	COL13A1	AHI1	KIZ	PLEC	SDHD	SDHA	MERTK	DNM2	ATXN3	MYH7	CRX	TUBB3	TOPORS	SLC5A7	HLA-B	ATXN2	SYT2	PDE6B	NDUFS4	STUB1	MCM3AP	P4HA2	IFT140	NEB	NDUFAF5	MAK	LYRM7	COL25A1	POMGNT1	KLHL40	NDUFV2	CERKL	MAP3K20	RP1	AFG3L2	ATP5MK	FAM161A	POLRMT	MT-CYB	GUCA1B	MYMK	PRPF6	TTN	SCAPER	TUB	UCHL1	RDH12	AGRN	VARS2	IMPG2	SLC18A3	UGT1A1	MT-CO3	NDUFS2	MT-TH	PABPN1	HLA-DRB1	AKT3	MFF	PRPF3	RBP3	PDE6G	AK9	PDGFB	MTFMT	KIAA1549	IFT172	ABCA4	VAMP1	NEK2	SBF1	RP9	FOXRED1	AKT1	OFD1	ATG7	TRPV4	NSUN3	MAPT	MT-TT	PROM1	KRAS	NOTCH2NLC	CDHR1	PCYT1A	ARL6	LRAT	IFT88	MT-ND2	MT-TE	NDUFS1	CNGA1	C1QBP	LIPT1	CNGB1	RILPL1	TERT	ACTN2	SDHB	TACO1	PRCD	CFAP418	MT-TL2	KCND3	CACNA1S	BBS1	MT-ATP8	ATXN7	SNAP25	ARL2BP	ZNF408	MYF5	MICU1	SAG	WFS1	MEN1	LAMB2	NDUFAF6	KIF21A	MYF6	SUFU	MT-CO2	HGSNAT	HPDL	NRAS	DHX37	RHO	RAPSN	ADA2	IDH3B	MT-ND3	DHX38	NUTM2B-AS1	ECHS1	SUCLA2	ADPRS	HRAS	TSPYL1	RPGR	AHR	NAXD	ACADS	COL3A1	GABRA3
HP_ABNORMALITY_OF_THE_FRONTAL_HAIRLINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_FRONTAL_HAIRLINE	BRD4	LRP2	SH2B1	CLCN3	HS2ST1	FGFR2	COG5	FOS	ZNF699	ZIC1	POLR1C	RAB18	RPS26	NANS	FGD1	SMARCB1	SMARCE1	SETD2	PIGK	RPS24	GATA1	CDH1	HYOU1	PGAP1	SPATA5L1	MEGF8	SPOP	SATB1	TCF12	NSD2	SPECC1L	HDAC8	WNT4	RPS27	CDK5	ADA2	TWIST2	SMARCA4	EFNB1	KCNN3	TBL1XR1	LIG4	RPS28	KREMEN1	KDM1A	SMARCA2	SMPD4	CPLX1	SMC1A	RPL15	FGFR3	ARID1B	VPS33A	RPL11	HSPG2	FLNA	RPS29	CREBBP	LRPPRC	TECPR2	MAPRE2	RPL27	VPS13B	RPL35A	LETM1	AIFM1	TWIST1	PPP1R15B	SMO	PPARG	RERE	DLX4	STAG2	GMPPA	PACS1	SIN3A	IGF1	RPS10	APC2	TMCO1	ARID1A	TRIO	NEPRO	DOCK7	SOS1	IFIH1	KCNH1	PIGG	DOCK6	PRDM13	RALGAPA1	DEAF1	PIK3C2A	ATP6V1B2	UGP2	PRKD1	SMARCC2	THOC6	XRCC4	ZC4H2	BICRA	CAVIN1	RPL18	SPEN	NELFA	PEX6	SMARCD1	MID1	RPL31	HEATR3	H1-4	RAB3GAP2	RPL5	PPP1CB	SVBP	DPM2	RAD21	TBC1D24	CCNK	NSUN2	SLC9A7	TBX2	SLC12A6	CDC42BPB	ERMARD	DHX30	NUDT2	NOVA2	MED12	ADNP	GNB2	SLC25A24	RPL26	MEIS2	ABCC9	H4C5	POLR1D	TCOF1	SETD5	FRMD4A	TAF6	SOX4	CWC27	BRCA1	H3-3A	TBC1D20	NSD1	TSR2	INSR	ALX3	ALX1	GDF11	SMC3	TTC5	SLC35C1	KCNJ8	NBN	SYT1	ASH1L	FKRP	POLR1B	RPS19	ADARB1	TRMT10A	COG7	ASXL1	RPS15A	RPS20	ARID2	FRAS1	EP300	STT3A	NOTCH2	EMC1	MAN2B1	DPH2	ANKRD11	NIPBL	RBL2	CPOX	ANKRD17	RPS17	BSCL2	MED13L	DPF2	SOX11	ALG11	PEX1	RPL35	MAB21L1	ARX	PEPD	LMX1B	RPS7	CAV1	CTBP1	AGPAT2	MAP3K7
HP_ABNORMALITY_OF_THE_PHARYNX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PHARYNX	MDM4	PNP	PRPS1	MGP	DNAH5	ARSB	BLM	TBX1	NFKB1	TNFRSF13C	F12	STAT1	IDS	COL5A2	RPGR	DOCK8	IRF2BP2	PIK3CD	SMARCB1	TERT	GNPTAB	PLG	FCHO1	HYOU1	CR2	C4B	PIK3R1	HPS6	GAS8	NAGLU	DCLRE1C	CD79A	GFI1	GLI3	GP1BB	KATNIP	SMARCA4	NHP2	STK11	CD4	TAP2	RAC2	PABPN1	RAG2	HLA-DRB1	TNFRSF13B	G6PC3	GNS	MED12	NOP10	RREB1	PARN	MBTPS2	IL17RA	SMARCA2	TCIRG1	TINF2	IL2RG	UNC119	PHIP	NME5	ARID1B	HSPG2	RTEL1	ZAP70	ODAD1	SH3KBP1	MAGT1	CREBBP	CCDC65	FOXJ1	LRBA	GJA1	MYSM1	FGFR1	PSMB8	DNAI1	NFKB2	ICOS	RAG1	TCOF1	LEPR	SERPING1	NME8	NLRP12	HYDIN	XIAP	ZMYND10	FOXN1	RFXAP	USB1	CTC1	CIITA	TMCO1	KDM5C	ARID1A	ANKH	IL10RB	CD19	DYM	FOXP1	NPM1	MDFIC	ACP5	STX3	SGSH	SOX9	SMARCC2	DNAAF5	RSPH4A	FCGR3A	CD79B	LEP	SPI1	HGSNAT	MST1R	NEK10	SMARCD1	ASAH1	CFAP298	IL6R	ELANE	IGKC	MCIDAS	ALMS1	NCF4	AICDA	SETBP1	NOTCH2NLC	STXBP2	GAS2L2	IL21R	CLPB	CARMIL2	TP53	IFIH1	DNAAF4	HIRA	PRKCD	NBN	WAS	SLC29A3	WRAP53	GLB1	CFI	RFXANK	SHH	ODAD2	TAPBP	DNAAF11	DNAJB13	JAK3	SOX4	POLE	ALG12	DNAAF6	EGFR	IVNS1ABP	DKC1	ARVCF	COG4	TBC1D24	GIPC1	RFX5	IL6ST	SPAG1	ZBTB7A	STK36	TAFAZZIN	UNG	SCNN1B	PTPN22	NFIX	RSPH1	MGAT2	SRP54	IGHM	MID1	COMT	CTLA4	TYMS	TP63	ZNF341	IKBKB	ARID2	XPNPEP2	DNAAF2	BTK	FGFR2	EP300	SEC24C	TAP1	KRT5	ATM	SCNN1G	RNF168	SCNN1A	RAI1	DNAI2	STAT3	SASH3	USP9X	SALL4	SH2D1A	DPF2	MATR3	ADA2	MS4A1	IGHG2	SMARCE1	SOX11	CD81	TOM1	GUSB	DNAAF1	UQCRH	TNFSF12	JMJD1C	PDE11A	GALNS	CXCR4	ARHGEF1	TNFRSF1A	SLC37A4	HLA-B	ADA	PRKAR1A	OFD1	P4HA2	PLP1	ADNP	HLA-DPB1	RSPRY1	COL5A1	UFD1	IL7R	TERC
HP_HYPOTELORISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOTELORISM	LIG4	DCLRE1B	PROKR2	ZIC2	AASS	IFT122	TGIF1	CLCN3	STIL	NDE1	POLRMT	PLCH1	NF1	GPT2	ZNF699	SUFU	FANCD2	CNOT1	NODAL	XRCC4	PTCH1	CAMK2A	AP3D1	ELN	DPYSL5	TDGF1	SIX3	SHPK	ALDH18A1	DPM2	ARID1B	DISP1	GATA2	DYRK1A	WDR35	DLL1	CEP57	SMPD4	FOXH1	FGFR3	GAS1	GTF2H5	PRPS1	FGF8	GLI2	NIN	SHH	TPRKB	GON7	NDP	NSUN2	TWIST1	PPP1R15B	MPLKIP	SRC	NARS1	RERE	SMC1A	QARS1	MKS1	ARCN1	FGFR1	WDR19	WDR4	GTF2E2	POLR3A	OPHN1	BLTP1	MLXIPL	CDON	EVC	PDE4D	RAB3GAP2	MSTO1	KANSL1	BICRA	TRRAP	EPG5	NUP107	PRKAR1B	ERCC3	FKBP14	NUP133	AARS1	ABCC9	LAGE3	SNRPN	KAT8	RTTN	GNB2	KCTD1	EVC2	FGFR2	STAG2	GSC	RECQL4	OSGEP	FREM1	FARSB	TARS1	IFT52	DDB1	CCDC32	CARS1	PAH	RAD21	TRMT10A	STIM1	HNRNPH2	RAB3GAP1	ATP6AP1	ERCC2	COX14	RNF113A	GJA5	GJA1	WDR73	TP53RK	PYCR1	IFT43	HUWE1	MSX2	GJA8	RLIM	USP9X	NTNG2	SLC35A1	TRAPPC9	CDK19	SEPTIN9	CILK1	CNOT3	ACBD5
HP_CENTRAL_SCOTOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_SCOTOMA	OPA1	PRPH2	PROM1	OPA3	MT-ND5	CFAP410	MT-ND2	CYP1B1	DNM1L	CYP4V2	MT-ND6	ABCA4	EFEMP1	GNAT2	MT-CYB	MYOC	ELOVL4	TIMM8A	DNAJC30	PITPNM3	MT-CO3	MFN2	RAB28	PDE6H	MT-ATP6	CACNA1F	MT-ND4	MTRFR	ATF6	CRX	RP2	PDE6C	NDUFS2	ITM2B	RHO	MFSD8	RLBP1	RDH5	IMPG2	RBP3	CNGB3	TMEM126A	MT-CO1	MT-ND1	RPGR	MT-ND4L	FDXR	RTN4IP1	POC1B	CNGA3
HP_SUPRANUCLEAR_GAZE_PALSY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPRANUCLEAR_GAZE_PALSY	DLAT	CCDC88C	MTFMT	AASS	FUS	TANGO2	NAXE	ATP13A2	TBK1	MAPT	VAMP1	PLA2G6	PRNP	POLR3B	SQSTM1	SPTLC1	POLR3A	ALS2	NPC1	PIGT	NOP56	PSAP	ATXN1	SPG11	ADD3	FA2H	DCTN1	ROBO3	C9orf72	DCC	SYNJ1	TARDBP	NPC2	KCNC3	NEK9	SPG7	POLG	AGTPBP1	HLA-DQB1	ELOVL4	EIF2AK2	GBA1	SIGMAR1	CHCHD10	FTL	TWNK	HOXA1	PLP1	ALDH4A1	VCP	VPS13A	ACOX2
HP_ABNORMALITY_OF_THE_PERIORBITAL_REGION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PERIORBITAL_REGION	TBX1	WDR4	HBA1	IARS2	VPS37D	YARS1	NSD2	HS2ST1	ANLN	RBMX	LBR	IDS	EPHB4	LTBP4	FOS	GNE	FLNA	MAP3K7	TGFBI	KRAS	GNPTAB	POMP	TBC1D8B	METTL27	ELN	MEGF8	SPOP	EDEM3	TCF12	NKX2-6	SIK3	AIP	MED13	GRIA3	NPHS2	COL11A2	PEX3	H4C3	LIG4	GTF2IRD1	EDA	MYOD1	ARHGDIA	SMCHD1	TNFRSF1A	PAK3	YY1	CAMTA1	PTPRO	KAT6A	PEX19	PSMB9	WT1	PIK3R1	RBM10	SUMF1	EDARADD	TAF1	LZTR1	SNX14	MAP2K2	ACTG1	CTLA4	CRB2	MED12L	NUP37	CITED2	NRCAM	MAB21L2	PEX6	SOX18	BCL7B	MLXIPL	SP7	JAG1	SEC23A	MYO1E	PPP1R21	EMP2	NCF1	PRTN3	GAPVD1	PIEZO1	CYP26C1	MAGI2	FBXO31	AP1G1	INF2	APOL1	TWIST1	ANKFY1	PPARG	GDF1	RIN2	NUP205	KNSTRN	DNMT3B	HLA-DPB1	NKX2-5	PIK3CD	NEU1	PEX1	FKBP6	NPHS1	CHD1	KIF11	ASXL3	RFC2	LRP2	TBL2	SKIC3	UBE2A	PEX13	PAX2	PUS7	POLR3A	TRIO	OPHN1	ADAMTS2	DOCK7	CDH11	CHD8	FGFR2	GTF2I	FHL1	ACTN4	GHR	KIF1A	TRPC6	GJA5	GATAD2B	ERCC4	POU4F1	CCBE1	COL1A1	CLIP2	HDAC8	GATA5	TUBB	CAVIN1	PEX2	SPEN	FRG1	SUZ12	GSN	ZNHIT3	STX1A	DNAJC30	KPTN	GATA6	PCGF2	NSUN2	DUX4	PITX2	AARS1	SPTBN1	PTH1R	ABCC9	COL5A2	DHX30	KMT2E	PEX11B	LAS1L	ZIC1	SLC25A24	KCTD1	PPP2CA	SLC29A3	RAB23	VPS33A	FGFR1	H4C5	EDAR	BRAF	PEX12	COL4A3	FOXG1	SOX11	FRMD4A	CLPB	FREM1	NUP93	SERPING1	TASP1	EXOC2	PLCE1	ACTB	ZFPM2	COQ8B	SLC35C1	PEX5	KCNJ8	PEX10	FLT4	KIF15	BUD23	SRCAP	TOE1	TWIST2	PRMT7	SOST	ESCO2	KMT2B	PDGFRB	BAZ1B	IGSF3	PHF6	FTSJ1	XPNPEP2	RPS23	PEX14	LMBRD2	NUP85	PHF8	PEX16	EIF4H	SHANK3	H4C11	PSMB4	NAA10	RBL2	GTF2IRD2	LIMK1	ANKRD17	NUP107	BSCL2	DHPS	HBA2	KDR	ARX	PSPH	CD2AP	TMEM270	MDH1	SMARCA2	PRR12	MYD88	HLA-DPA1	MASP1	GATA4	PLPBP	NUP160	MAP2K1	HRAS	FGFR3	PSMC3	NUP133	GPR101	PEX26	ZSWIM6	COL5A1	PTPN22	CAV1	TRAPPC9	RPS6KA3	ANTXR1	AGPAT2	NRAS	ARHGAP24	DAAM2
HP_PERIORBITAL_WRINKLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIORBITAL_WRINKLES	SMARCA2	EDA	EDARADD	CDH11	EDAR
HP_MACULAR_DEGENERATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_DEGENERATION	ERCC3	HK1	IFT140	YARS1	DRAM2	PRPH2	PAK2	SIX6	FBN2	CNNM4	PRCD	COL18A1	ABCA4	APOE	FBLN5	SCAPER	SPG11	RLBP1	ABCC6	RPGRIP1	GUCA1A	SAG	XYLT1	CFI	PITPNM3	MERTK	ANO10	TARS1	EFEMP1	ATF6	C1QTNF5	CEP78	ARL2BP	PPT1	RHO	RAX2	TRAF3IP1	C9	RPGR	PLK4	CARS1	ATXN7	XYLT2	GTF2H5	CFH	GUCY2D	CP	GBA1	MAPKAPK3	CFHR1	RP1L1	BEST1	RIMS1	ELOVL4	ERCC2	RNF113A	RS1	PROM1	GRK1	HMCN1	PRPF31	FBLN1	ALDH3A2	HLA-A	CLN3	NRL	MPLKIP	NR2E3	SH3BP2	LZTFL1	NMNAT1	CFHR3	WDR19	GUCA1B	GTF2E2	ZFYVE26	CDH3	TTC8	DHX38	CNGB1	KCNV2	ZNF513	PCYT1A	RDH5	TNFRSF11B	CST3	SEMA4A	CNGB3	LIG3	AIPL1	EPG5	SLC6A6	ASAH1	RP9	PRPF4	PAX2	CFAP418
HP_OPTIC_NERVE_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPTIC_NERVE_HYPOPLASIA	HNRNPK	MEF2C	POU1F1	GLYCTK	CDC42BPB	KCNK4	ARSL	NDE1	ERF	LHX4	FKRP	CEP85L	ZIC1	RTTN	OTX2	SCN8A	STAG2	B3GALNT2	WDR11	NEFL	TUBA1A	CACNA1C	PROP1	HESX1	PROKR2	PAX6	POMT2	PPP2R1A	MAP2K2	SPOP	RNF113A	SOX2	DNMT3A	PUF60	CENPF	ALDH1A3	TUBA8	GPR161	FANCI	WNT3	NFIX	PTPN23	ANKRD11	POMK	SIX6	NR2F1	CASK	CDON	SON	PTF1A	KIF14	FKTN	GLI2	KNSTRN	PIK3CD	GMPPB	ARNT2	MBTPS2	ATAD3A	POMGNT1	SOX3	POMT1	LHX3	FGFR1	IFT74	TUBB3	DDHD2	ZPR1	OTUD5	WT1	GATAD2B	MED12	GRIA4	MACF1	LARGE1	POGZ	ALDH1A2	FOXA2	RNF135	ROBO1	FDFT1	RSPO2	PPP1CB	CRPPA
HP_ABNORMAL_CHOROID_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CHOROID_MORPHOLOGY	VPS35L	BCOR	FSCN2	ALDH1A3	LCA5	ABCC6	SEMA3E	DPP6	PRPH2	ZEB1	NDE1	RPGRIP1	CLCNKB	TEAD1	NAA10	TXNDC15	FBN2	B9D2	ABCA4	FBLN5	TCTN2	ZNF408	NDUFB11	SOX2	MT-TK	TMEM107	SALL4	CRPPA	FZD4	INPP5E	OAT	FKRP	VCAN	PAX6	XYLT1	GUCY2D	CLEC3B	SLC25A15	COL18A1	MAGEL2	BMP4	COX7B	EFEMP1	RP2	HCCS	PEX3	TMEM67	WAC	POMK	IMPG1	HADHA	RNF216	HMX1	IFNG	GZF1	DAG1	XYLT2	CFH	JAG1	TCTN1	VPS33A	CTNNB1	CC2D2A	TIMP3	CFHR1	YAP1	BEST1	CEP290	POMT1	PEX6	MFRP	ZEB2	VPS13B	PEX19	CHN1	NDP	TUBGCP4	HLA-A	POMT2	CYP4V2	KIF11	SHH	TBX22	ELOVL4	PEX1	C12orf57	OVOL2	TMEM237	TMEM216	LARGE1	RNU7-1	KRIT1	PEX13	IMPG2	PORCN	POMGNT1	CRX	COL4A1	WT1	RLBP1	B9D1	SIX6	POMGNT2	CNGB3	SAG	PNPLA6	TMEM231	MAFB	ENPP1	HLA-DRB1	RXYLT1	PAX2	UBE3B	NOD2	CSPP1	DHX16	RERE	SPTBN1	MT-TE	PEX11B	ADAMTS18	ROM1	CHD7	APOE	CCM2	TCTN3	PDCD10	PEX12	GUCA1A	MT-TL1	CHM	SALL1	CFI	CRB1	B3GALNT2	ACVRL1	WASHC5	TSPAN12	ZNF423	PTEN	LRP5	C1QTNF5	CLCN2	RBP4	PEX5	PEX10	OTX2	GNAQ	PRSS56	DCT	TSC1	POU3F4	MKS1	TMEM98	AGXT	SPATA7	PEX2	VSX1	SIX3	MAPKAPK3	FKTN	CCDC22	AKT1	RPE65	B4GAT1	MICOS13	PROM1	PEX14	TMEM138	HMCN1	RPGRIP1L	ACTB	CASK	FBLN1	PEX16	NRL	GDF3	TSC2	HHAT	CFHR3	NF1	RAX	COL8A2	OCRL	LRAT	EYS	PEX26	IKBKG	SIM1	CLDN19	DACT1	TUBGCP6	GRHL2	EPHA2
HP_IRIS_COLOBOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRIS_COLOBOMA	BCOR	LRP2	KATNIP	SEMA3E	ELP4	TGIF1	ATOH7	MPDZ	NAA10	VSX2	SUFU	KIFBP	POLR1C	SALL4	CRPPA	KRAS	CTBP1	AHI1	INPP5E	FKRP	PIBF1	ROR1	ARMC9	NSD2	CRYBB1	FGF3	DHCR7	BMP4	AAAS	FGFRL1	CBY1	DISP1	CRYAA	RBP4	ZEB2	POMK	TMEM237	NODAL	ALG3	CPLX1	HMX1	CSPP1	GZF1	SRD5A3	IGBP1	DAG1	ACTG1	MED12L	YAP1	CEP290	POMT1	FGFR2	VPS13B	CRYGC	NDUFB11	CHN1	LETM1	PTCH2	POMT2	SMO	TMEM67	HYLS1	TMEM218	PTCH1	SHH	MKS1	TBX22	C12orf57	GJA8	CC2D2A	DYRK1A	MBTPS2	CRYGD	LARGE1	CPLANE1	PORCN	TRIM37	ARL13B	POMGNT1	CEP41	CHD7	COL4A1	MMP14	PIGG	ALG2	POMGNT2	TFAP2A	CRYBA4	NELFA	DLL1	FGF8	TMEM231	MAFB	RXYLT1	HCCS	ERF	FGFR1	RERE	SPTBN1	SIX6	TMEM216	KCTD1	POLR1D	TCOF1	TOGARAM1	POGZ	PNPLA6	ZIC2	B9D2	B3GALNT2	MIR204	GLI2	FLNA	NOTCH3	ACTB	WASHC5	ZNF423	ALX3	CENPF	CEP120	RB1	SALL2	SIX3	WNT3	POLR1B	B3GLCT	MMP2	CEP104	SMCHD1	MAF	TCTN1	NPHP1	FKTN	CCDC22	TRAPPC11	ARL3	NRAS	NOTCH2	B4GAT1	TMEM138	RPGRIP1L	TDGF1	FLI1	FOXH1	ATP6V1A	COX7B	GDF3	TCTN2	HRAS	TENM3	ANK1	CDON	GNAQ	PRR12	CRYBB2	SIN3A	GAS1	PUF60	SOX2	SALL1	KIAA0586	GMPPA	ADNP	B9D1	DACT1	RSPO2
HP_PHOTOPHOBIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHOTOPHOBIA	GUCY2D	CERKL	FSCN2	HK1	RP1	LCA5	AP3D1	KCNJ13	POLA1	RGR	PRPH2	GJB2	ZEB1	IDH3A	SLC39A4	FAM161A	PRPF4	CHST6	RPGRIP1	IL10	GUCA1B	OVOL2	CNNM4	ATF6	TNF	TYR	TLR4	RGS9BP	PRPF6	TGFBI	PRPF31	TIMM8A	ERCC6	SCAPER	CABP4	TUB	SREBF1	SLC7A14	OCA2	ELOVL4	RDH12	PITPNM3	PCARE	CTNS	AFG3L2	STAT4	HPS6	IMPG2	TLCD3B	EYS	EFEMP1	CACNA2D4	TAT	PDE6C	GJB6	BLOC1S5	EDNRA	OFD1	RHO	RAX2	COL17A1	MBTPS2	LRAT	ERCC4	POLH	HADHA	DKK1	ERCC8	BBS2	REEP6	ABCA4	OPN1LW	FOXC2	PRPF3	RBP3	DRAM2	EPCAM	RPGR	PDE6G	GTF2H5	CFH	CACNA1F	AP3B1	CLTRN	ERCC3	KRT3	ERAP1	GUCA1A	KIAA1549	ELOVL1	ZNF408	ALMS1	IFT172	ARL3	ESR1	HLA-B	CFAP410	IMPG1	CNGB3	SCN1A	TP63	NEK2	HLA-A	RP2	CLRN1	MPLKIP	GALC	RP9	IFNGR1	HPS1	NR2E3	WDR45	HARS1	GNB3	SLC1A3	IKZF1	AGBL5	GNAT2	CRB1	SLC24A5	CFAP418	XPC	GTF2E2	NMNAT1	OPN1MW	RPE65	PROM1	RIMS2	KCNV2	NOTCH2NLC	POC1B	AHSG	MCOLN1	AP1B1	CDHR1	PDE6H	TTC8	RIMS1	PLCD1	WNT10A	NLRP3	COL4A1	PNPLA6	TUBB4B	RTN4IP1	DHDDS	ARL6	IL12A-AS1	CNGA3	CRYGC	HLA-DRB1	SLC45A2	SLC6A19	NOD2	IFT88	GPR143	SPATA7	TULP1	SNRNP200	CNGA1	CNGB1	LYST	ERCC2	PERCC1	ARHGEF18	MFRP	AIPL1	LRMDA	DDB2	SEMA4A	UNC119	MAPT	C4A	CLCC1	TACSTD2	KRT5	IL12A	PDE6A	XPA	PRCD	ITGB6	IL23R	TARS1	LTBP2	MEFV	NRL	C1QTNF5	PIKFYVE	CEP78	NLRP1	USH2A	BBS1	ROM1	AIRE	PSAP	CARS1	TTLL5	DCT	ANTXR1	GAN	ATXN7	CA4	ARL2BP	ZNF513	PCNA	CST6	RP1L1	RLBP1	OPN1SW	VSX1	GJA1	BEST1	RAB28	SAG	RGS9	LSS	RNF113A	IMPDH1	MC1R	KLHL7	CCR1	ALDH3A2	PRPF8	CRX	HGSNAT	ADAM9	ERCC1	ST14	KLRC4	IDH3B	AHI1	DHX38	COL8A2	KIZ	MERTK	GUSB	KRT12	CEP250	ITM2B	CFI	TOPORS	UBAC2	RDH5	PDE6B	IFT140	MAK	KRT14	AHR	ERCC5	POMGNT1	GRHL2	FAS
HP_ABNORMAL_NASOLACRIMAL_SYSTEM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NASOLACRIMAL_SYSTEM_MORPHOLOGY	CREBBP	FRAS1	SATB2	EP300	FOXL2	SMCHD1	GRIP1	FGFR2	TP63	EYA1	TFAP2A	FREM1	NHP2	COL3A1	SIX5	UBR1	FGFR3	SMC3	SIX1	YY1	PTDSS1	PRMT7	TCOF1	FGF10	KNSTRN	LEMD3	NDUFB11	MALT1	PIK3CD	SOX6	PAX3	KRAS	PPP2R3C	KIF11	FOXP1	SPRED2	MEGF8	KAT6A	KAT6B	TWIST1	PRR12	COX7B	CD151	BCL10	FGFR1	PEX1	MED12	GJB2	SOX10	HCCS	NOP10	TET3	MBTPS2	HLA-DRB1	BIRC3	HMX1	TAF1	USB1	TRRAP	BTNL2	PEX6	SLC25A24	FREM2	PAX1	GJB6	IGSF3	PPP1CB
HP_ABNORMAL_PUPIL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PUPIL_MORPHOLOGY	STIM1	CPAMD8	MAB21L2	GNA11	GJA1	ZEB2	LETM1	AP3D1	GFAP	CPLX1	TBX2	NDP	KRT25	MPZ	PITX2	ZEB1	CHN1	ATOH7	COL3A1	PTEN	OVOL2	LOXL1	GMPPA	GPR143	TMEM67	SALL4	CTBP1	ADAMTSL4	RHOA	NSD2	KRT71	FZD4	PAX6	LAMB2	DDX6	TINF2	COL8A2	COL18A1	OCRL	KRT74	LIPH	FBN1	SH3TC2	FOXC1	FGFRL1	TONSL	SIN3A	AAAS	RBP4	HRAS	LPAR6	PMP22	WT1	RB1	GRHL2	ELP1	PCYT1A	PIK3R1	PHOX2B	COL4A1	MAFB	VSX1	ARL6IP6	POMT2
HP_MIOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MIOSIS	CHRDL1	ZFHX4	PHYH	GNB2	ORAI1	RAB18	ERCC6	PEX7	NOTCH2NLC	DNMBP	HHAT	DDC	SIX6	STIM1	COL25A1	KIF1B
HP_ABNORMALITY_OF_OCULAR_SMOOTH_PURSUIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_OCULAR_SMOOTH_PURSUIT	GBA2	DPM2	PMPCA	EEF2	SETX	AARS1	RARS1	STXBP1	MAN2B1	WARS2	KCND3	STT3A	SYT14	FGF14	PLA2G6	POLR3B	CACNA1A	PRDX3	POLR3A	PRKCG	NOP56	RNF170	TBCD	ZFYVE26	SPG11	TSEN54	TBP	SCYL1	SPTBN2	XRCC4	TULP1	ATXN2	TMEM240	KCNN2	PIK3R5	FMR1	TTBK2	ITPR1	PEX10	MRE11	THG1L	SYNE1	ATXN8OS	KCNC3	TMEM106B	ANO10	ATN1	PRNP	RUBCN	RFC1	ALS2	PDHB	CACNA1G	INPP5E	ELOVL4	TPP1	TMEM216	ATP2B3	SACS	ATXN3	GNB1	ATXN10	STUB1	FTL	ATXN1	GJB1	XRCC1	PAFAH1B1	DARS2
HP_BLINDNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLINDNESS	CEP290	ASPA	CERKL	FSCN2	SMARCE1	PROS1	RP1	NDUFB10	RGR	COL2A1	GJB2	IDH3A	NDE1	FAM161A	PRPF4	MT-ATP6	IL10	GUCA1B	ATOH7	NDUFV1	ITGA2	PANK2	B3GALNT2	BMP4	OPA1	TLR4	PRPF6	NDP	ZNF408	NDUFB11	B4GAT1	FRAS1	PRPF31	MT-ND1	PLG	SCAPER	FZD4	CEP164	TUB	OAT	SLC7A14	TCIRG1	RDH12	PITX3	PCARE	CTNS	STAT4	MTRR	IMPG2	SEMA4A	NDUFS4	ITGA2B	UFM1	COX7B	EYS	HCCS	EIF2B3	SMO	PPT1	TMEM67	EIF2B5	LRAT	HLA-DRB1	GALC	AIP	GM2A	BBS2	UROS	REEP6	PRPF3	RBP3	NUBPL	GNAS	FDXR	ATP1A3	PDE6G	MFSD8	PDGFB	CTNNB1	FREM2	TIMP3	ADAMTS10	CFAP418	ERAP1	GP1BB	PRPS1	PLOD1	CREBBP	KIAA1549	ALMS1	BEST1	LRP5	IFT172	CDH23	ARL3	ABCA4	NDUFS7	IMPG1	SCN1A	NEK2	RP2	ABCD1	CLRN1	BAP1	CYP4V2	BCOR	RP9	IFNGR1	AKT1	HPS1	NDUFA11	NDUFA6	GMPPB	OFD1	GLB1	AGBL5	EIF2B1	CC2D2A	CRB1	NDUFA1	KIF11	ACTB	RD3	POMGNT1	NF2	EIF2B4	PRPH2	CLN3	POMT1	MTR	RPE65	CRX	PROM1	NDUFV2	PIK3R2	CDHR1	NDUFS8	TTC8	NDUFB9	ERCC4	MTTP	POLG	PQBP1	DHDDS	ARL6	GP1BA	TMEM231	C1QTNF5	IL12A-AS1	NR2E3	NDUFB3	FBN1	IFT88	IFT140	NDUFAF2	SREBF1	SPATA7	OPA3	TULP1	GUCY2D	NDUFS2	SNRNP200	CNGA1	UROD	CNGB1	NDUFAF8	NDUFAF5	FKRP	TMEM216	PIK3CA	TERT	HLA-B	SMARCB1	ARHGEF18	HSD17B10	NAA10	SDHB	C4A	PEX6	MT-ND3	TIMMDC1	POGZ	CDH3	POMT2	ATIC	IL12A	PDE6A	CAPN5	EIF2B2	PRCD	FOXRED1	IL23R	TMEM126B	TSPAN12	ZNF423	MEFV	NRL	PGK1	PDHA1	XRCC4	USH2A	BBS1	ROM1	GATA1	PSAP	GNAT1	SARDH	ATXN7	CTC1	CA4	ARL2BP	NDUFAF1	ZNF513	HEXB	SMCHD1	RP1L1	RLBP1	CD109	NDUFS1	MT-ND2	LONP1	SAG	ITGB3	NDUFS3	MEN1	POMK	GRIP1	TMEM138	IMPDH1	KLHL7	CCR1	SDHAF1	TRAF7	SUFU	PRPF8	SDHA	TBC1D24	HGSNAT	KIF14	FKTN	ATRX	DHX37	RHO	NF1	KLRC4	LAMB2	IDH3B	NLRP3	AHI1	DHX38	KIZ	NSMCE2	CLCN7	NDUFS6	NDUFAF3	GNAQ	SDHD	MERTK	TMEM237	TOPORS	UBAC2	PDE6B	LARGE1	TNFSF11	NDUFAF4	RPGR	MAK	AIPL1	BTNL2	AHR	PLA2G6	FLVCR1	FAS	ARNT2
HP_DACRYOCYSTITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DACRYOCYSTITIS	PRMT7	BTNL2	SATB2	LEMD3	TP63	FGFR2	HLA-DRB1	IGSF3
HP_ENTROPION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENTROPION	ERCC2	POLR3A	DDB2	ERCC4	HLA-B	ATP6V1E1	XPA	TP63	ATP6V1A	XPC	ALDH1A3	ZMPSTE24	LMNA	IKZF1	ERCC6	GMNN	ERCC5	ERCC3	PPP2R1A	POLH
HP_BLURRED_VISION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLURRED_VISION	MT-ATP6	LRAT	SCN9A	MT-ND4	LCA5	CLCNKB	TGFBI	RPE65	ZEB1	MT-ND5	NDUFS2	MT-ND2	SLC12A3	KCNA1	COL17A1	HLA-A	ABCA1	DBH	MT-ND6	CACNA1A	APOA1	SCN4A	MT-CYB	MAPT	MT-CO1	MT-ND1	NLRP3	SLC4A11	MT-ND4L	NOP56	SOST	DNAJC30	COL4A1	OVOL2	SPATA7	ATP1A2	VSX1	TACSTD2	GRHL2	HLA-DRB1	MT-CO3	COL8A2
HP_SUPRANUCLEAR_OPHTHALMOPLEGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPRANUCLEAR_OPHTHALMOPLEGIA	ATXN7	GBA1	ATXN3	ATXN2	ATXN1
HP_EYELID_COLOBOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EYELID_COLOBOMA	ESCO2	FRAS1	SEMA3E	DHODH	KRAS	CDH11	SF3B4	POLR1D	FREM1	ALX1	FLI1	EDNRA	RNASEH2A	RIPK4	SF3B2	POLR1C	CHD7	ADNP	TCOF1	KCTD1	POLR1B	RNASEH2C	SLC25A24	TREX1	LSM11	RNU7-1	IFIH1	FGFR1	CCNQ	POLR1A	TXNL4A	SAMHD1	TWIST1	ADAR	RNASEH2B
HP_POSTERIOR_EMBRYOTOXON	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_EMBRYOTOXON	PEX6	DNAJC30	BCL7B	YAP1	MLXIPL	ESS2	VPS37D	SEC24C	DGCR2	PITX2	HS2ST1	PEX19	PEX14	NCF1	PEX16	PEX11B	EIF4H	TBX1	HIRA	GTF2IRD2	LIMK1	NDUFB11	PEX1	FKBP6	PEX12	PAX6	METTL27	RFC2	NOTCH2	TBL2	PEX13	TMEM270	FOXC1	COX7B	JAG1	GP1BB	ARVCF	DGCR8	GTF2I	JMJD1C	SLC38A8	HCCS	PEX3	PEX5	GTF2IRD1	PEX10	RREB1	BUD23	CLIP2	PIK3R1	PEX26	HMX1	DGCR6	PEX2	COMT	UFD1	STX1A	BAZ1B	ELN
HP_PERIORBITAL_FULLNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIORBITAL_FULLNESS	NRCAM	MAB21L2	GNE	WDR4	PCGF2	TASP1	TRIO	RPS23	DOCK7	NSD2	MED13	HS2ST1	RBMX	KMT2E	PLPBP	H4C3	MLXIPL	YY1	FGFR2	GATAD2B	HRAS	H4C11	PEX19	RBL2	MAP3K7	SRCAP	PPP2CA	TWIST2	VPS33A	ANKRD17	H4C5	TUBB	SPEN	CHD1	ASXL3	KMT2B	NRAS	CLPB	ARX	ELN	EDEM3	FTSJ1
HP_ABNORMAL_RETINAL_ARTERY_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RETINAL_ARTERY_MORPHOLOGY	MT-CYB	DNAJC30	BCL7B	NEK1	ASAH1	MLXIPL	BEST1	ABCC6	VPS37D	SEC24C	NCF1	MT-ND5	TULP1	CYP1B1	COL4A1	EIF4H	GALC	HIRA	MT-ND4	EFEMP1	GLB1	TBX1	GTF2IRD2	LIMK1	MYOC	NEU1	MT-CO3	FKBP6	MT-ND6	MT-ND2	METTL27	RFC2	IGFBP7	ELN	TBL2	TMEM270	SMPD1	MT-ND4L	GP1BB	ARVCF	GM2A	GTF2I	JMJD1C	F12	CTSA	GTF2IRD1	MT-ATP6	PRPF3	TMEM231	RREB1	LRP5	PSAP	BUD23	CLIP2	MT-ND1	SELENOI	HEXB	NDP	COMT	UFD1	STX1A	BAZ1B	ENPP1	FZD4	DARS1
HP_RETINAL_ARTERIAL_TORTUOSITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_ARTERIAL_TORTUOSITY	MT-ND6	MT-CYB	MT-ND5	MT-ND2	MT-ND4	NEK1	MT-ND1	MT-ND4L	DNAJC30	MT-ATP6	SELENOI	MT-CO3
HP_LACRIMATION_ABNORMALITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACRIMATION_ABNORMALITY	DNAJC30	SOX10	BCL7B	MLXIPL	FOXL2	SEMA3E	VPS37D	NDP	SREBF1	ZEB1	NCF1	NGLY1	LIFR	DST	LRP1	NHP2	UBR1	TP63	SLC39A14	OVOL2	FGFR3	ATOH7	CLDN10	EIF4H	TWIST2	CHD7	FGF10	ALX4	GMPPA	GTF2IRD2	LIMK1	ERCC8	FKBP6	SETBP1	MAPT	METTL27	RFC2	FZD4	PAX3	TBL2	COL8A2	SIX1	TMEM270	OCRL	SLC12A2	SDHD	SCN9A	MADD	KRT12	GTF2I	DKC1	AAAS	NOP10	PRDM12	AP1B1	GTF2IRD1	COL17A1	ERCC6	FGFR2	ELP1	ERCC4	TRAPPC11	SEMA4A	BUD23	CLIP2	PARN	NLRP3	TYMS	TINF2	EYA1	VSX1	STX1A	BAZ1B	PIGQ	KRT3	GRHL2	HLA-DRB1	PAX1	ELN	IGSF3
HP_DECREASED_LACRIMATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_LACRIMATION	SLC12A2	SOX10	MADD	FOXL2	NGLY1	LIFR	DST	AAAS	PRDM12	AP1B1	ERCC6	CLDN10	FGFR2	ELP1	ERCC4	TRAPPC11	ERCC8	ALX4	GMPPA	SETBP1	MAPT	PIGQ	PAX1
HP_IMPAIRED_OCULAR_ABDUCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_OCULAR_ABDUCTION	ROBO3	MYMX	MAFB	SALL4	MYMK
HP_BLUE_IRIDES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLUE_IRIDES	PAX3	DNAJC30	MITF	BCL7B	MLXIPL	TYR	VPS37D	NCF1	MC1R	OCA2	SOX10	EIF4H	PRKAR1A	GTF2IRD2	LIMK1	HERC2	KITLG	EDN3	FKBP6	PDE4D	METTL27	SLC45A2	RFC2	ELN	TBL2	RLIM	TMEM270	UBE3A	PRR12	SOS1	GTF2I	GTF2IRD1	BUD23	TYRP1	CLIP2	SNRPN	EDNRB	MAPK1	STX1A	BAZ1B	TP63
HP_UPPER_EYELID_COLOBOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_EYELID_COLOBOMA	TCOF1	FREM1	ALX1	POLR1A	SLC25A24	FRAS1	CDH11	TWIST1	SF3B2
HP_LONG_PALPEBRAL_FISSURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_PALPEBRAL_FISSURE	EIF5A	HNRNPK	PCLO	CCNK	DVL1	LMNB1	BMP1	KDM6A	SPTBN1	LMBRD2	ACTB	AFF3	ANKRD11	GNB2	IPO8	PIGW	PIGY	OTUD6B	PIGV	PURA	TBL1XR1	H4C5	KRAS	PGAP3	BRAF	HDAC4	KMT2D	RAC1	CAMK2G	NXN	DVL3	FZD2	PIGO	ARX	DPH5	TGFB3	INPPL1	AP3B2	PRR12	WNT5A	PIK3R2	DDB1	WAC	CLP1	RNU4ATAC	GATAD2B	PDE4D	MAP2K1	SPOP	PGAP2	SPEN	ADNP	ACTG1	FIBP	MAP2K2	ROR2	PIGL	FTSJ1
HP_GAZE_EVOKED_NYSTAGMUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GAZE_EVOKED_NYSTAGMUS	CACNB4	SETX	VLDLR	GRM1	SLC1A3	AFG3L2	COQ2	SACS	APTX	GCH1	KCND3	SYT14	FGF14	BEAN1	POLR3B	SOX3	CACNA1A	PRDX3	ATP1A2	POLR3A	PRKCG	SCN8A	ITPR1	RBL2	SPG11	TBP	SAMD9L	SPTBN2	ATXN2	ATXN3	UROC1	PIK3R5	TDP1	UCHL1	MRE11	PMPCA	THG1L	COL18A1	TMEM106B	PRRT2	RFC1	CACNA1G	WWOX	PAX7	UBAP1	SDHA	ATXN10	STUB1	ATXN1	GRID2	SCN1A	EXOSC9
HP_DYSMETRIC_SACCADES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSMETRIC_SACCADES	TPP1	SPTBN2	ANO10	PEX10	SCYL1	EEF2	MRE11	AFG3L2	ATXN1	ATXN2	TGM6	UBAP1	ATXN3	ITPR1	MFN2	ATXN8OS
HP_RED_GREEN_DYSCHROMATOPSIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RED_GREEN_DYSCHROMATOPSIA	OPA3	FGF14	C1QTNF5	OPA1	OPN1MW	OPN1LW	NR2E3	ACO2
HP_AMBLYOPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMBLYOPIA	ERF	PDZD8	WARS2	ELP4	DPP6	CDC42BPB	ZEB1	TANGO2	PHOX2A	C1QBP	ATOH7	FLNA	COL11A1	FGFR3	SCN8A	AP4B1	NDUFB11	LIM2	EPRS1	FGFR2	SALL4	ARHGEF2	ELN	NOG	HPS6	AP4M1	TASP1	FBN1	COX7B	WDR26	RORA	CHST3	SMARCA2	GDF2	HCCS	CRYAA	H4C3	LAMA1	XYLT2	WAC	COL9A1	SF3B2	KAT6A	CLCN6	SMAD4	TBX1	COL4A1	SMCHD1	COL9A2	POLR3GL	VSX1	AFF4	ACVRL1	YME1L1	FOXL2	ZMIZ1	NDP	PITX2	CHN1	GPR143	PIGN	MICU1	LMBRD2	LOXL3	NR2F1	RIC1	AP1G1	TWIST1	SMO	MAP3K7	NPHP4	OVOL2	CRYBB1	DYRK1A	KCNN2	KIF11	HDAC4	ADAMTSL4	CBS	FZD4	NF2	COL8A2	ZFHX4	OCRL	CLN3	COL9A3	RRAS2	PRR12	AP4E1	NFIX	OGT	ENG	TUBB3	B3GAT3	MLXIPL	PUF60	TFE3	MED25	AP4S1	SOBP	PAX6	ADNP	TRIO	MAFB	COL25A1	CRYGC	GRHL2	H1-4	P4HTM
HP_SCLEROCORNEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCLEROCORNEA	MAB21L2	CSPP1	PRDM5	MAPKAPK5	NDUFB11	SIX6	NDP	RPGRIP1	LETM1	CEP290	FIG4	TXNDC15	B9D2	COX7B	SLC25A24	TCTN2	BMP4	TCTN3	TMEM107	TENM3	TMEM237	PAX6	TMEM216	RAX	FOXE3	NSD2	DHCR7	TMEM67	SOX2	SCARF2	HCCS	CENPF	PIGG	B9D1	KERA	CPLX1	HMX1	CC2D2A	MKS1	FGFR1	TBX1	NELFA	TCTN1	PXDN	CTBP1	VAC14	B3GALT6	TMEM231	RPGRIP1L
HP_OPTIC_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPTIC_ATROPHY	AMPD2	NLRP3	MT-ND4	MGP	NDUFA9	SEMA3E	RGR	IDH3A	EEF1A2	PRPF4	RPGRIP1	MFN2	PDSS1	GABRA5	SERAC1	B9D2	PAX6	MT-ND1	OPA1	MT-CO3	NDUFS7	PRKAR1A	FKRP	DGUOK	VCAN	SLC7A14	TCIRG1	NDUFAF2	PCARE	NSD2	AFG3L2	PEX10	NDUFA13	AAAS	SH3TC2	GP1BB	PEX3	SLC25A46	COX15	LETM1	KLC2	PPT1	EIF2B5	NTRK2	CHSY1	ZEB2	TNFRSF11A	NDUFA2	RBM10	STAMBP	TMEM126A	DAG1	NDUFAF8	FDXR	NFIX	MFSD8	VPS33A	NAGA	HK1	PRPS1	TBCE	NRCAM	POLR3A	ERCC5	CACNA1A	EXOSC9	ARL3	RPS6KA3	MT-ND5	PEX5	CFAP410	MECR	YWHAG	RP2	FDX2	GALC	POMT2	KIF11	INTS8	GLRX5	GMPPB	CRB1	PIK3CA	ATAD3A	MT-ND6	TUBGCP2	LARGE1	PEX6	DNMT1	RNU7-1	POMGNT1	NMNAT1	EIF2B4	MT-ATP6	MT-ND4L	TMTC3	SOX5	COL4A1	KIF1A	MT-TQ	ABHD12	MT-TL1	SLC30A9	POMGNT2	MMUT	MINPP1	ERCC3	SCYL2	GABRA2	POMT1	NR2E3	GNA11	DPM2	IKBKG	TANGO2	GPAA1	OPA3	TULP1	SNRNP200	AGTPBP1	GABRD	ARSA	PLA2G6	NBAS	SCN3A	TCTN3	DDB2	SEMA4A	PDE6A	ERCC2	FCSK	IBA57	NRL	SLC19A3	PDHA1	TBC1D24	POLG	SURF1	CISD2	USH2A	WNT3	WFS1	PLP1	ANTXR1	MTOR	NDUFS8	ATXN1	VPS13B	HCN1	DARS2	CCDC22	MT-CYB	BEST1	MT-TH	FGFR2	SEC24C	TRAF7	SLC52A2	MOGS	IMPDH1	MICU1	TIMM50	CASK	PRPF8	PEX16	SON	ATP6V1A	DNM1L	CKAP2L	RBL2	FKTN	PEX11B	SNX10	TMEM53	SLC13A5	ERCC6	AUH	MT-TF	RHOA	AHI1	WDR45	PSAP	KIZ	POLR3K	ARV1	PEX1	TOPORS	ELP1	PDE6B	TWNK	PEX12	FZR1	SYNJ1	IFT140	MAK	PIK3CD	FLVCR1	ACO2	CNOT3	P4HTM	RPGRIP1L	ASPA	CERKL	WARS2	CPSF3	WDR4	SCN8A	FA2H	FAM161A	GUCA1B	NECAP1	KCTD7	C19orf12	RAB18	TCTN2	PEX13	CSF1R	TIMM8A	CRPPA	FGF13	MTSS2	SOST	ATP1A3	SYNGAP1	ADAM22	TBX1	TGFB1	GLA	PLEKHM1	DHDDS	ADAR	OSTM1	MTPAP	ERCC8	ERCC4	FGF12	CPLX1	MT-CO1	PRPF3	RBP3	PDE6G	FGFR3	MAP2K2	DPAGT1	EXOSC8	EXOSC5	TBC1D20	FH	YME1L1	PCYT2	IFT172	MTFMT	ABCA4	PPP1R21	PEX19	POLR3B	RAB3GAP2	RP9	FOXRED1	SLC6A9	TACO1	RERE	BRAF	PPP3CA	OFD1	EIF2B1	TMEM216	MT-RNR1	RECQL4	CLN3	WDR73	PROM1	GABRB2	DKC1	BRAT1	PIGG	ALG13	CCDC88A	ATP1A2	TUBGCP6	B9D1	DOCK6	TOE1	DPYD	NDUFA11	NUP62	STT3B	NDUFS2	KCNA2	LRP5	PLAA	CNGA1	ST3GAL5	LIPT1	VPS53	DNAJC19	PEX2	MYO5A	HIRA	HSD17B10	DNAJC30	PRKCZ	TSC1	MTO1	TMEM222	B3GALNT2	SPG7	MAG	PRCD	RRM2B	WASHC5	ARVCF	BBS1	POU3F4	MKS1	CTC1	WWOX	ARL2BP	SELENOI	MT-TK	TMEM63A	KCNB1	DPM1	CLTC	PARS2	OGDHL	TRAPPC11	SAG	RAB3GAP1	POMK	MICOS13	VPS11	UBE4B	MT-TW	PEX26	MT-TN	HGSNAT	ERCC1	IDS	ADA2	MT-ND3	PIGU	MFF	EMC1	CYFIP2	JMJD1C	NOTCH2NLC	SDHA	NT5C2	TK2	MAP2K1	ARX	CC2D2A	RPGR	SLC25A19	PORCN	AHR	CTBP1	PRICKLE3	RSPO2	TFG	FSCN2	PCLO	SH3BP2	DNM1	MT-ND2	CASZ1	CACNA2D1	CDK19	PRPF31	KRAS	ACADS	NARS2	DIAPH1	TSC2	ASXL1	PDHX	DHCR7	HSPG2	GLB1	ZNF592	CASR	EYS	TBC1D7	TUBB4A	NDUFB8	EIF2B3	ISCA2	RREB1	KAT6A	PLK4	ALG3	BBS2	CLCN7	REEP6	ACTL6B	KCNC3	TCTN1	SLC29A3	NDUFA12	SSBP1	FLRT1	YAP1	CNNM4	GJA1	NDP	IMPG1	CEP290	CLRN1	TRAPPC12	CTNNB1	SCYL1	PRDM16	SRD5A3	AGBL5	XPC	PRPH2	NDUFA10	RPE65	PDPN	CDC42	COA8	INPP5K	NALCN	CLP1	TTC8	FRMPD4	SCO2	MT-TS2	ATP6V1B2	NDUFS3	NEU1	ZNHIT3	RXYLT1	NDUFA4	ERF	SPATA7	KIF7	MCOLN1	PRUNE1	CHD7	ARHGEF18	EPRS1	TUBGCP4	PANK2	POGZ	NDUFV1	EIF2B2	EPG5	TMEM67	MPLKIP	FXN	ROM1	PIEZO2	MTRFR	NDUFAF3	PTPN22	PI4KA	MT-TV	ATRX	CA4	AARS1	MMP23B	ZNF513	TRAK1	RP1L1	RLBP1	COMT	TNFRSF11B	PET100	LAMB1	B4GAT1	KLHL7	SIL1	KNSTRN	HUWE1	PEX14	TBC1D2B	CBS	PTCD3	GNAQ	MERTK	NDUFA6	MT-TP	ZPR1	BTD	CRX	CELF2	HLA-B	NDUFS4	P4HA2	ACOX1	NDUFAF5	ALG8	MPDU1	PCK1	HIKESHI	NDUFV2	RP1	ELP4	CLCN3	RFC1	GJC2	PNPLA6	MPDZ	VRK1	SLC44A1	TXNDC15	RNF170	CACNA1B	PRPF6	TMEM107	SCAPER	SPEN	TUB	UCHL1	GRN	THG1L	RDH12	SKI	AP3B2	IMPG2	CNKSR2	SUMF1	HLA-DRB1	AFF4	AKT3	SLC19A2	SBF2	KIAA1549	MMACHC	SEC31A	SLC38A3	GTPBP2	NEK2	NGLY1	NDUFAF4	TWIST1	RAB11B	TBCD	LUZP1	ATG7	SZT2	TMEM237	GEMIN4	POLG2	RNF216	CDHR1	KCNAB2	MID2	NELFA	ARL6	TXN2	SEC23A	UBE3B	CSPP1	LRAT	IFT88	NDUFS1	SLC39A14	NIPBL	IER3IP1	CNGB1	NR2F1	TSFM	DENND5A	RAB23	L2HGDH	DALRD3	EXOSC3	ATIC	XPA	CFAP418	BOLA3	BCAP31	COG6	SARDH	AGXT	GABRG2	ZNF408	SNAP29	TMEM231	SMOC1	ATXN7	CYP27A1	NDUFAF6	KANSL1	MT-CO2	RPIA	GRIN2D	B3GLCT	RHO	IDH3B	NEDD4L	DHX38	MRPS34	GABBR2	LRP4	ECHS1	UBA5	NUS1	SLC1A2	TNFSF11	GMPPA	CYP7B1	CA2	UFD1	MTHFR
HP_ABNORMALITY_OF_VISUAL_EVOKED_POTENTIALS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_VISUAL_EVOKED_POTENTIALS	OPA1	PSAP	RAB3GAP1	PRPH2	CWC27	TNFSF11	EMC1	PROM1	CYP27A1	MOGS	POMGNT1	LAMA2	COQ2	TTPA	ARSA	SNX10	RAB3GAP2	NDRG1	GALC	ABCA4	SPG11	SCAPER	ATXN1	PRPS1	ERCC8	ELOVL4	TIMM8A	RAB18	ARHGEF2	PDSS2	MFN2	COX6B1	NDUFS4	ACOX1	RDH11	PLA2G6	MECR	TCIRG1	AAAS	FXN	TYR	ERCC6	CLN8	OSTM1	ZNHIT3	CLCN7	MFF	GJC2	CNGB3	POGZ	NOTCH3	SLC25A22	ATP1A3	MPDU1	POLG	CLN5	TBC1D20	SUCLA2
HP_DIPLOPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIPLOPIA	PODXL	VPS35	POLG	CACNA1A	SNCA	LRP4	MYO5A	ATP1A2	SLC18A3	RILPL1	STAT6	TMEM240	COL13A1	PRKN	DNAJC13	HTRA2	SAG	ATXN3	AGRN	CHRNB1	ANO10	CACNA1G	SLC25A1	KCND3	SLC2A1	CHAT	HLA-DRB1	SCN4A	GIGYF2	AIP	TPP1	DKK1	PTPN22	ERCC4	MAPT	SLC5A7	SNAP25	LRRK2	SERPINI1	AK9	PINK1	EIF4G1	VPS13C	SYNJ1	CHRND	DARS2	MUSK	TOP3A	CDH23	ERCC5	SLC1A3	MEN1	GRK1	VAMP1	HLA-DQB1	CHRNA1	CHRNE	NAB2	TYMP	SAMD9L	RAPSN	UCHL1	PRNP	NF2	NFKB2	SPTBN2	PRRT2	ERCC2	PARK7	GBA1	DOK7	KCNA1	SDHA	PUM1	HLA-B	TGFB1	SYT2	PDCD1	ADPRS	P4HA2	DNAJC6	NOP56	ERCC3	MYO9A	SCN1A
HP_LOWER_EYELID_COLOBOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_EYELID_COLOBOMA	SF3B4	POLR1D	TCOF1	POLR1A	TXNL4A	POLR1B	EDNRA	RIPK4	POLR1C
HP_SPARSE_EYELASHES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPARSE_EYELASHES	SOX18	GJA1	ODC1	ITGA3	EBP	GJB2	GTPBP2	CLDN1	ALX1	LIPH	SNRPE	NHP2	DPH1	HRURF	EDNRA	DSP	EDARADD	FIG4	EDAR	DSG4	TWIST2	NF1	NECTIN1	TCOF1	CDH3	DLX4	ALX4	KRT71	RNU12	LSS	ST14	COL11A1	DSC3	WDR35	NECTIN4	DPH5	MAP2K2	CWC27	TP63	B4GALT7	LPAR6	TSR2	APCDD1	POLR3A	KRT74	SF3B4	MPLKIP	GJB6	DKC1	NOP10	EDA	KANK2	RNU4ATAC	DOLK	KREMEN1	EPS8L3	ZMPSTE24	RECQL4	SMARCA2	RMRP	KRT25	ANTXR1	TRPS1	RPL21	TYMS	CST6	SPINK5	BLM	VAC14	IRX5	BANF1	MBTPS2
HP_DECREASED_LIGHT_AND_DARK_ADAPTED_ELECTRORETINOGRAM_AMPLITUDE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_LIGHT_AND_DARK_ADAPTED_ELECTRORETINOGRAM_AMPLITUDE	CYP4V2	ALG3	ACOX1	SAG	LARGE1	RHO	GUCY2D	IDS	RGR	PPT1	POMGNT1	MCOLN1	LRAT	USP45	BEST1	IDH3B
HP_ECTROPION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTROPION	ABCA12	ITGB4	HNRNPK	CD28	ERCC3	CYP4F22	CTLA4	TGM1	KDM6A	UROD	KMT2D	RIPK4	ERCC2	ALOX12B	IPO8	RNU12	DDB2	CDH1	TNFRSF1B	ABCA1	MEGF8	CTNND1	XPA	PLEC	PNPLA1	TARS1	ALOXE3	TWIST2	NIPAL4	ITGA6	FOXC2	LRP4	GATA1	CARS1	UROS	GTF2H5	GRIA3	POLH	ABHD5	MBTPS2	CDC42	FOXL2	ERCC4	DHODH	RNF113A	FLI1	FERMT1	MPLKIP	DLX4	GBA1	ERCC6	XPC	GTF2E2	SULT2B1	CERS3	KRT10	POLR3A	RNF2	CARD14	APC	ERCC5	ASPRV1	SDR9C7	LIPN
HP_OCULOMOTOR_APRAXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCULOMOTOR_APRAXIA	SLC1A3	CEP290	PNKP	EXOSC3	KATNIP	TREM2	TUBB2B	TYROBP	PSEN2	MYO9A	FA2H	BCR	SETX	SOX3	CC2D2A	CEP41	PIGY	PNPT1	PIK3R5	CACNA1G	PIGV	TOGARAM1	AHI1	ABCA7	INPP5E	PIBF1	AFG3L2	APP	TMEM231	B9D2	ARMC9	ARL3	GRID2	CBY1	CSPP1	ZC4H2	TMEM107	ATP1A3	TMEM216	TUBB4A	RORA	ITPR1	MKS1	CEP120	TMEM67	DNM1L	LAMA1	CWF19L1	TMEM237	TPP1	KDM1A	PDE6D	TOE1	TMEM138	ARL13B	SUFU	PGAP2	DLAT	CEP104	TUBA1A	UFC1	TCTN1	ATP1A2	RPGRIP1L	NPHP1	KIAA0753	SORL1	CPLANE1	APTX	NGLY1	CRKL	CACNA1A	SQSTM1	ABCD1	TOMM40	H4C11	HYLS1	TMEM218	PIGW	TUBB3	PGAP3	TCTN2	ATXN2	MAST1	KIAA0586	MAPT	PIGO	MRE11	PMPCA	KCNH1	IFT74	BLTP1	IFT172	BRAF	B9D1	GPAA1	SPR	SLC30A9	STUB1	PEX2	MAPK1	PSEN1	GBA1	XRCC1	PIGL
HP_EYELID_APRAXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EYELID_APRAXIA	SYNJ1	PANK2	MAPT	ATP13A2	PLA2G6
HP_PETERS_ANOMALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PETERS_ANOMALY	POMT1	PAX6	FOXC1	PRR12	FOXE3	RERE	NDUFB11	CENPF	FKRP	COX7B	B3GLCT	LARGE1	CYP1B1	FKTN	MAF	CDH2	WDR37	TRIM44	NCAPG2	POMT2	PITX3	PITX2	CRPPA	HCCS
HP_LIPEMIA_RETINALIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIPEMIA_RETINALIS	APOC2	LPL	G6PC1	GPIHBP1	SLC37A4
HP_NYCTALOPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NYCTALOPIA	GUCY2D	STIM1	ADGRV1	FSCN2	CERKL	HK1	RP1	LCA5	IDH3A	KCNJ13	MT-TS2	YARS1	RGR	RLBP1	FAM161A	TULP1	PRPF4	GUCA1B	HGSNAT	TCF4	MFN2	IDS	SLC24A1	CNGA1	PEX7	NYX	CNNM4	ATF6	ABCA4	PEX13	PRPF6	ARL6	PRPF31	SCAPER	CABP4	IMPDH1	TUB	OAT	SLC7A14	RDH12	MERTK	PCARE	GNAT1	CLEC3B	AGBL5	TRNT1	IMPG2	ARL3	SEMA4A	ARSG	TLCD3B	ARHGEF18	EYS	MYO7A	BEST1	PEX3	RP2	CLRN1	PDE6A	ESPN	LRAT	GRM6	GRK1	RHO	PEX1	GNS	AGBL1	HADHA	RBP3	BBS2	REEP6	IFT172	PRPF3	DRAM2	TRPM1	CFAP418	PDE6G	CACNA1F	PRPH2	DPAGT1	KIAA1549	CACNA2D4	ZNF408	RPGRIP1	CDH23	GPR179	PITPNM3	AIPL1	PEX5	CFAP410	IMPG1	NEK2	USH1C	DHDDS	RPGR	CYP4V2	COL8A2	RP9	MYO6	MAK	NR2E3	ELOVL4	GNB3	OFD1	CRB1	PEX16	OPN1LW	PEX6	NMNAT1	FLVCR1	RPE65	CRX	PROM1	CNGB1	KCNV2	POC1B	PHYH	CDHR1	TTC8	RIMS1	MTTP	USH1G	PDE6B	CNGB3	SAG	RAX2	C1QTNF5	RNU4ATAC	IFT88	IFT140	PEX19	SPATA7	OPN1MW	SNRNP200	GGCX	TTPA	PRPF8	FGFR2	ZEB1	MVK	AHR	PEX2	ROM1	MFRP	CHM	HARS1	UNC119	LRIT3	WDR19	COG4	POMGNT1	GUCA1A	CLCC1	RDH5	CWC27	PRCD	NRL	RDH11	HKDC1	USH2A	BBS1	TTLL5	WHRN	POU3F4	CA4	ARL2BP	MMP19	ZNF513	VPS13B	RP1L1	CIB2	CCDC28B	RAB28	PCDH15	KIF3B	PEX10	KLHL7	HSD3B7	PEX11B	ADAM9	CEP78	PEX14	IDH3B	INPP5E	AHI1	DHX38	TIMP3	KIZ	BBS4	ZPR1	ITM2B	TOPORS	SLC4A11	PEX12	PDZD7	PEX26	TRAPPC9	CNGA3
HP_HORIZONTAL_NYSTAGMUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HORIZONTAL_NYSTAGMUS	TAF2	OPA1	PLP1	IARS2	GRM1	SACS	HPS3	SIX6	DAB1	KCND3	SYT14	KIF1C	COQ5	BEAN1	SPTBN4	SNIP1	SOX3	ATP1A2	FRMD7	PSAP	TBC1D24	IDH1	UROC1	TTBK2	ARHGEF2	THG1L	COL18A1	ANO10	GRID2	CACNA1G	MRPL12	MARS2	PEX5	HPS4	DNM1L	CWF19L1	ADAR	ASH1L	TPP1	GCH1	NUP62	HMX1	TMEM126A	NR4A2	LMNB1	ATG5	AP3B1	HPS5	GRM6	GATA3	EXOSC5	LRP5	GRIK2	FAR1	ALDH18A1	GPR143	ATP13A2	PDGFRB	NSUN2	ERLIN2	RBL2	ALX4	CACNA1A	GMPPA	IQSEC2	SURF1	GBA1	POLR3B	FA2H	HARS1	TRAPPC6B	PEX16	ITPR1	MRE11	NMNAT1	TMEM106B	SPTBN2	PRRT2	MT-ATP6	KCNH1	AIFM1	CNGB3	LYST	BLOC1S3	NFIX	PAX7	KCNV2	MAB21L1	ALG13	STUB1	IMPDH2	LARGE1	PET100	DPP6	XRCC1	SCN1A	EXOSC9
HP_PHTHISIS_BULBI	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHTHISIS_BULBI	BRD4	COL18A1	NIPBL	HDAC8	RAD21	LRP5	HMX1	SMC1A	NDP	TMEM53	MARK3	ATOH7	CDH11	SMC3	FZD4	BCOR
HP_HYPODONTIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPODONTIA	CTSK	VPS37D	IFT122	LRP4	SCN8A	EEF1A2	DNM1	POLR3A	TP63	EDAR	GABRA5	DDX59	CACNA2D1	NECAP1	CDK19	POP1	CACNA1B	FGD1	PITX2	TERT	SETD2	RBM28	FGF13	CTBP1	PRKAR1A	METTL27	CDH1	ATP1A3	DVL3	FZD2	EVC	ELN	SYNGAP1	NSD2	AP3B2	CNKSR2	WNT5A	FGFRL1	DHDDS	TBX3	TWIST2	NHP2	SLC39A13	GTF2IRD1	NTRK2	EDA	IRF6	NOP10	PARN	WDR35	FGF12	TINF2	CPLX1	ACTL6B	EDARADD	LEMD2	RTEL1	BCL11B	CFAP418	GRHL3	BCL7B	NFKBIA	MLXIPL	CACNA1A	MTX2	CREBBP	RPS6KA3	SLC38A3	NCF1	HSPA9	LETM1	FGFR3	YWHAG	POLR3B	NECTIN1	FGF10	SCUBE3	PPP3CA	MSX1	SZT2	FKBP6	WDR19	RFC2	USB1	CTC1	TBL2	APC2	GRHL2	TRIM37	TRPV3	PUS7	ADAMTS2	ACOX1	SMARCAL1	GTF2I	NPM1	GABRB2	PIGG	SMG8	ATP1A2	GDF5	PARS2	CLIP2	PIK3R1	EVC2	TSPEAR	NELFA	KCNA2	GABRA2	MID1	ROR2	LMNA	STX1A	DNAJC30	PERP	DVL1	IKBKG	KDM6A	KMT2D	SCN3A	WRAP53	HMGA2	SLC13A5	ATP6V1B2	DALRD3	FGF3	KCNH1	RNF13	OFD1	FOXC1	WNT10A	CHSY1	ARL6	CEP152	DKC1	NSD1	IFT52	FGFR2	GLI1	ZMPSTE24	BUD23	TRAF6	CKAP2L	DNAJC21	WWOX	AARS1	KDF1	MAPK8IP3	TRAK1	PRKACB	GABRG2	HCN1	IRX5	TYMS	BAZ1B	KCNB1	CLTC	CCDC28B	FLNB	DYNC2LI1	CLDN1	KIF1C	POLR1C	RMRP	GRIN2D	EIF4H	NKX2-1	XYLT1	IFT43	LEMD3	GTF2IRD2	LIMK1	ATP6V1A	MBTPS2	PIGL	PPP2R3C	SCNM1	NXN	PTH1R	TMEM270	LAMB3	POLR3K	GABBR2	ARV1	CYFIP2	CEP85L	OTUD5	CELF2	UBA5	KCNN3	NUS1	SLC1A2	APC	FZR1	SYNJ1	BBS1	PORCN	PRKACA	EP300	TERC
HP_CARIOUS_TEETH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARIOUS_TEETH	KRT14	ADGRV1	ERCC6	ARSB	CTSK	VPS37D	SHOC2	NHP2	COL3A1	MKRN3	CNNM4	EP300	IFT52	TERT	RBM28	METTL27	TCIRG1	COL17A1	MEGF8	CTNND1	SATB1	TBX1	ATP6V1A	COL7A1	FGF3	SFRP4	TGFB1	FAM111A	ATP6V0A2	GP1BB	MYO7A	NOP10	GTF2IRD1	RECQL4	GJA1	RREB1	PARN	COX4I2	TINF2	ALPL	GTF2H5	AP3B1	RTEL1	PPP1CB	FERMT1	BCL7B	MLXIPL	MAPRE2	CREBBP	SEC23A	NCF1	CDH3	TP63	FGFR3	TBCE	PTCH2	MPLKIP	ERCC8	PTCH1	FGF10	CDH1	FKBP6	AGA	RFC2	ABL1	USB1	CTC1	COG6	DPH5	GTF2E2	TBL2	TRPS1	TRPV3	NECTIN1	CDH11	GTF2I	SLC37A4	NPM1	IFIH1	DKC1	RUNX2	HERC2	CLIP2	ZMYM2	THOC6	TERC	STX1A	DNAJC30	NPAP1	SOX9	ERCC3	SLC10A7	PERP	SNORD115-1	CCN2	ATP6V1E1	SNRPN	APC	SRCAP	PWRN1	ENPP1	HIRA	LAMA3	WRAP53	SNORD116-1	PLEC	CAV1	GLB1	OFD1	PWAR1	SRP54	SBDS	UBE3B	TARS1	CCR6	ARVCF	PTEN	ATR	FGFR2	SUFU	SGMS2	IRF5	CARS1	KLK4	BUD23	COMT	TYMS	BAZ1B	PAX1	ELN	AKT1	SLC24A4	ERCC2	RNF113A	SEC24C	WHRN	LIFR	LAMC2	MMP1	MAGEL2	EIF4H	PKP1	B3GALT6	DNAJC21	HLA-DRB1	GTF2IRD2	LIMK1	MBTPS2	EFL1	SCNM1	USH2A	CRLF1	TMEM270	OCRL	LAMB3	CLCN7	COL2A1	JMJD1C	GALNS	MMP13	ANAPC1	TNFSF11	PEPD	ACP4	PDZD7	VDR	UFD1
HP_ANODONTIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANODONTIA	NECTIN1	FLNA	ERCC8	DVL1	IFT122	WNT5A	ERCC6	EDARADD	ERCC1	EDAR	DCAF17	EDA	DVL3	FZD2	RPS6KA3	ERCC4	GRHL3
HP_MACRODONTIA_OF_PERMANENT_MAXILLARY_CENTRAL_INCISOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACRODONTIA_OF_PERMANENT_MAXILLARY_CENTRAL_INCISOR	VPS13B	GRIA3	ATP6V1B2	TBC1D24	GJA1	CACNA1I	KCNMA1	FARS2	BRF1	CTCF	COL11A1
HP_ABNORMALITY_OF_THE_INCISOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_INCISOR	NEK1	PAX9	ZIC2	BLM	TGIF1	STIL	CTCF	PLCH1	ARHGAP29	WNT10B	EP300	SUFU	CNOT1	NODAL	BCOR	PTCH1	STAG1	EVC	TDGF1	SIX3	TBC1D2B	DISP1	CHSY1	NHS	ANKRD11	PDGFRA	KAT6A	DLL1	IRF6	FOXH1	GAS1	GRIA3	FGF8	TP63	SHH	CREBBP	GJA1	MSX1	LRP6	BRF1	DLX4	SMC1A	SCUBE3	FARS2	PURA	CDH1	AXIN2	TUBGCP2	GLI2	BMP4	NECTIN1	CDON	GATAD2B	CCBE1	ATP6V1B2	WNT10A	TGFA	TBC1D24	IKBKG	FGFR1	ATRX	CDC42BPB	ABCC9	DLX3	FREM1	STAG2	CACNA1I	NAA10	EVC2	DOCK7	EIF4A3	ERCC3	DNMT3A	EDA	HRAS	CDH11	ATR	FGFR2	GLI1	CKAP2L	B3GLCT	VPS13B	MID1	RIPK4	SUMO1	DPH2	KCNMA1	ST14	ALX3	KCNK9	RNF2	EDARADD	COL11A1	DYNC2LI1	SMAD2	FGF3	PRKACA	DLG1	PRKACB
HP_OLIGODONTIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OLIGODONTIA	KIFBP	FLNA	PAX9	DVL1	LTBP3	SH3BP2	IKBKG	SUMO1	PITX2	KCNJ2	CLDN1	UBR1	MSX1	SRCAP	EDARADD	WNT10B	POLR3B	PPP1R15B	BCOR	ANKRD11	POLR3A	LRP6	KCNJ5	SLC25A24	HUWE1	SCUBE3	MAP3K7	HNRNPK	EDAR	AXIN2	IRF6	RHOA	DVL3	FGFR1	FZD2	EDA	CHSY1	TRIO	NEPRO	CEP152	SATB2	WNT5A	KREMEN1	RPS6KA3	CCBE1	PIK3C2A	WNT10A	TP63	PORCN	ATP6V1B2	TGFA	TRMT10A	BCL11B	POLR3GL	MAF	SMOC2	PTHLH	PTH1R
HP_DENTAL_CROWDING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DENTAL_CROWDING	CBS	MAP3K20	PCGF2	H19	IGF2	RPL10	IL11RA	PLCB4	NSDHL	LMNA	SOX5	EDNRA	KCNJ5	GNAI3	GNB2	ZMPSTE24	ASXL3	NAA10	FRAS1	PIGK	AMMECR1	DSE	UPF3B	TAF6	SPECC1L	CREBBP	MADD	ARL6	NOTCH3	POLD1	INSR	GRB10	SMS	WNT5A	SCARF2	ATP6V1E1	CCDC47	ZBTB7A	ZEB2	TAB2	SETD5	MED12	KIF15	TRPS1	SETBP1	RPS6KA3	BMP2	LOX	SELENON	COL5A1	MGAT2	SNX14	FGFR1	FREM2	KCNJ2	BANF1	CCDC28B	LGI4	PLOD1	TECPR2	DDR2	ZDHHC9	GJA1	SATB2	FGFR2	EP300	DVL1	GRIP1	CAMK2B	TPM3	MYH3	DHCR7	SHANK3	EDN1	BCOR	XYLT1	SMC1A	SCUBE3	MYL2	KIDINS220	IL6ST	C12orf57	SET	TPM2	ITGA7	ABL1	COL3A1	MYMX	OCRL	TRIM37	PUS7	TRIO	PEX6	FBN1	ACTA1	EMC10	MASP1	NONO	ATR	COL1A2	HNRNPH1	FLCN	HACD1	BBS1	SOBP	AMER1	SPEN	ROR2	IL1RAPL1
HP_DELAYED_ERUPTION_OF_PRIMARY_TEETH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_ERUPTION_OF_PRIMARY_TEETH	ERCC8	CTSK	ERCC6	ERCC1	LEMD2	CAMK2B	FLII	DEAF1	RAI1	RUNX2	EDNRA	FGFR2	ERCC4	IQSEC2
HP_DELAYED_ERUPTION_OF_TEETH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_ERUPTION_OF_TEETH	BRD4	BCOR	ERCC6	PAX9	ARSB	KAT6B	SEMA3E	FAM20A	CTSK	CYP27B1	ACP5	IL11RA	DEAF1	TRIP11	FGFR2	EDNRA	WNT10B	NAA10	SMARCB1	CCBE1	ADAMTS3	ABCA5	SETD2	DPYD	FAT4	AMMECR1	PRKAR1A	SATB1	STX16	HDAC8	FGF3	SFRP4	ARID1B	ENPP1	TGFB1	ATP6V0A2	LONP1	TONSL	TWIST2	SMARCA4	SLC39A13	LIG4	MMP2	NPHS1	ZEB2	RECQL4	ERCC4	TNFRSF11A	CCDC8	OBSL1	ERCC8	SUOX	SMC1A	LEMD2	SLC29A3	KCNJ2	GJA1	SP7	DVL1	SEC23A	RPS6KA3	IDS	MYSM1	MSX1	IQSEC2	LRP6	SH3PXD2B	PIGF	GNAS	IGF1	FLII	HDAC4	AXIN2	RUNX2	CHST3	APC2	TRPS1	ARID1A	POLR3A	SNX14	SLC37A4	KCNH1	GHR	RAI1	GDF5	ATP6V1B2	SMARCC2	PIK3R1	EVC2	TGFA	EVC	SMARCD1	CDH11	LMNA	ROR2	RAD21	TBC1D24	NSUN2	IKBKG	TNFSF11	NIPBL	CUL7	EDA2R	CHD7	GNB2	SEC24D	TFAP2B	SLC13A5	SETBP1	SRP54	SOX11	FGFR1	SOX4	SBDS	DMP1	NSD1	FLNA	PIGA	WNT5A	FGD1	SMC3	PDGFRB	ADAMTSL1	GLI1	ZMPSTE24	CLCN7	TCIRG1	PTHLH	ARID2	MIA3	SUMO1	CAMK2B	P4HB	RIC1	STAT3	UBR1	PAPPA2	ELMO2	SNX10	PDE4D	KCTD1	DNAJC21	POLR3B	ERCC1	EFL1	IRF6	DPF2	SMARCE1	EDA	OCRL	EDARADD	THRA	PTCH1	DYNC2LI1	CYP2R1	ANAPC1	WNT10A	SLC1A2	PORCN	ANTXR1	VDR	AMER1	PRKACA	PRKACB
HP_HYPOPLASIA_OF_TEETH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_TEETH	ITGB4	NEK1	GNAS	CSTB	ERCC3	SLC10A7	PAX9	CTSK	CYP27B1	IFT122	ODAPH	LRP4	COL17A1	KIF7	LMNA	LAMB3	WNT10B	ENPP1	NF1	GNB2	ZMPSTE24	LAMA3	FBXO28	ERCC6	ERCC8	PLEC	OFD1	OCRL	EDAR	FGFR1	PGAP1	KRT5	SATB1	STX16	SLC12A2	WNT10A	TARS1	CEP152	PEX1	FLNA	MPLKIP	SMARCA2	ATR	ITGA6	FGFR2	ERCC4	GJA1	COG6	NUP133	MMP1	CARS1	DNAJC21	GTF2H5	TRMT10A	KCNJ2	IRX5	HLA-DQA1	CREBBP	HLA-DQB1	AMBN	SLC35A2	ERCC2	EP300	RNF113A	SMCHD1	SEC23A	SUMO1	LAMC2	FAM20C	FGFR3	MSX1	AMELX	PPP1R15B	FLNB	LRP6	ITGB6	FGF10	CLDN1	SCUBE3	UBR1	LONP1	ERCC1	PAK2	C12orf57	COL7A1	AXIN2	IRF6	RHOA	GALNT3	RUNX2	AIRE	NECTIN4	PCNT	ALDH3A2	GTF2E2	IFT43	TP63	EDA	GRHL2	TRIM37	DDX59	EDARADD	IFIH1	DLX3	CYP2R1	RECQL4	PIK3C2A	ACP4	LMX1B	TTC7A	PORCN	KRT14	TGFA	SP6	VDR	SMOC2	ROGDI
HP_WIDELY_SPACED_TEETH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDELY_SPACED_TEETH	BRD4	UBE3A	RAD21	TBC1D24	PCGF2	PAX9	LTBP3	IFT122	CDC42BPB	KIAA0753	DLX3	AFF3	NIPBL	KDM6A	KMT2D	NAA20	WNT10B	MED12	ADNP	CDH3	IFT52	H4C5	ERCC6	GLB1	SSR4	PIGL	IFT140	MBD5	FGFR1	FGF3	DPH1	CDK5RAP2	SATB1	TCF4	RNF113A	HDAC8	AIP	TWIST2	WDR26	PIGA	SMARCA2	CCDC47	TBL1XR1	SMC3	CHST3	ERCC4	NARS1	KDM1A	ERCC8	TP63	LARP7	B3GLCT	SMC1A	PTPRF	CERT1	MECP2	MAPK1	HK1	CDC42	ZEB2	NDST1	GJA5	SUMO1	RPS6KA3	IDS	CAMK2B	TANC2	LMBRD2	MAN2B1	GPR101	MSX1	LRP6	RDH11	OCA2	TBCD	ALX4	ERCC1	MED13L	DYRK1A	HDAC4	AXIN2	IRF6	KATNB1	GJA8	MED27	WDR35	NECTIN4	IFT43	WNT10A	RLIM	EDA	BAP1	PRR12	ZNF526	GUSB	EDARADD	AIMP2	GALNS	NONO	SETD1A	EIF2S3	BCAS3	PIGS	ATP6V1B2	PRKD1	CDK19	ZSWIM6	ACP4	SNRPN	KANSL1	TBX4	ARSK	TGFA	SHANK3	ACVR1	PPP1CB
HP_DENTAL_MALOCCLUSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DENTAL_MALOCCLUSION	HNRNPK	DNAJC30	DPM2	RELT	PCGF2	PAX9	CTSK	VPS37D	TCIRG1	ACP5	IL11RA	PLCB4	ABCC9	ASPH	ARHGAP29	GPC4	WNT10B	EP300	GNAI3	FGFR3	GPR68	TTI2	FRAS1	PTPN11	ERCC8	ENAM	PRKAR1A	METTL27	ATP6V1B2	FGFR1	ELN	MEGF8	KCNH1	TCF12	MARS1	BRCA1	CREBBP	FAM83H	GNAS	PLEKHM1	TWIST2	SLC39A13	RDH11	CDH11	GTF2IRD1	MYOD1	PDGFRA	DCHS1	LRP5	KLK4	SMARCA2	BUD23	CLCN7	SKI	IRF6	BMP2	SOST	TSPAN7	PYROXD1	HSPG2	FREM2	IRX5	FLNA	BAZ1B	PAX1	NOTCH2	MTM1	BANF1	GRHL3	CDC42	MAP2K1	DVL3	GFPT1	BCL7B	GJA1	SH3PXD2B	MLXIPL	SMAD3	SATB2	SMCHD1	PCYT1A	SUMO1	TP63	GRIP1	CHRNG	KDM6A	NCF1	OBSL1	DVL1	DOCK3	MSX1	AMELX	NECTIN1	BCOR	EIF4H	LRP6	SHANK3	BRF1	AGO2	EDN1	ITGB6	GTF2IRD2	LIMK1	DSPP	MMP20	FKBP6	CDH1	SH3BP2	AXIN2	RHOA	FAT4	RFC2	GPC3	CHRNE	TBL2	EDA	TRPS1	TMEM270	GLI2	TRIM37	FGFR2	CA2	BRAF	BMP4	SOS1	GTF2I	EDARADD	ATR	ERCC6	KCNN3	THOC6	FLCN	CLIP2	DLX4	PIK3R1	WNT10A	AMER1	PORCN	RPS6KA3	TGFA	STX1A	DLG1
HP_MICRODONTIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICRODONTIA	IDUA	DNAJC30	ADGRV1	WDR4	PCGF2	PAX9	TWIST2	VPS37D	LTBP3	IFT122	CTCF	PITX2	GJB2	HS2ST1	TFAP2A	KIAA0753	PCNT	DLX3	NHP2	COL3A1	KDM6A	SNRPN	KMT2D	SRCAP	EDARADD	WNT10B	EDAR	MED12	EDA2R	CDH3	LAMB3	H4C5	FBXO28	C1R	METTL27	IFT140	MBD5	FGFR1	ELN	EVC2	FGF3	SIX1	FOXC1	ARID1B	CHSY1	ATP6V0A2	MYO7A	IFT52	MSX1	TONSL	GRB10	PIGA	CHST3	SMARCA2	CCDC47	NOP10	ORC1	REV3L	GTF2IRD1	EDA	RECQL4	PRIM1	GJA1	FGFR2	GLI1	WDR35	BUD23	NFIX	CKAP2L	PIK3R1	DNAJC21	CDK13	CACNA1C	PLXND1	SLC25A24	MAPK1	BCL11B	BAZ1B	TP63	BCL7B	MLXIPL	MAPRE2	SATB2	SEC23A	GJA5	WHRN	SUMO1	NCF1	LMBRD2	UBR1	FAM20C	FGFR3	SMC3	RMRP	EIF4H	LRP6	PLXNA1	NECTIN1	B3GALT6	FGF10	IFT43	TCF12	GTF2IRD2	LIMK1	PIGF	RBBP8	FKBP6	PIGL	AXIN2	IRF6	SCNM1	RHOA	GJA8	WDR19	RFC2	USH2A	TBL2	TMCO1	TRPS1	TMEM270	SMARCAL1	GTF2I	GHR	MCOLN1	B3GAT3	DYNC2LI1	ANAPC1	PIK3C2A	PRKD1	CLIP2	WNT10A	PDZD7	HEPHL1	ATP6V1B2	TGFA	P4HB	DPF2	KAT6B	EYA1	CDH11	STX1A	EVC	PRKACA	SMOC2	C1S	UBE3B	PRKACB
HP_TOOTH_MALPOSITION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TOOTH_MALPOSITION	PAX9	CTSK	VPS37D	IFT122	IL11RA	NSDHL	KIAA0753	ARHGAP29	LMNA	GPC4	EP300	ASXL3	FRAS1	PTPN11	PIGK	PRKAR1A	PIGL	IFT140	FZD2	MEGF8	TCF12	SIX1	RNF113A	SPECC1L	TBC1D2B	TCF4	GNAS	TWIST2	WDR26	SMARCA2	ATP6V1E1	TBL1XR1	CHSY1	ZEB2	ANKRD11	ERCC4	MED12	PDGFRA	CLCN7	SKI	BMP2	LARP7	SMC1A	PTPRF	TSPAN7	HSPG2	FREM2	KCNJ2	ADAMTS10	HK1	CREBBP	GFPT1	STAG1	DDR2	ZDHHC9	GJA1	MLXIPL	DVL1	SMCHD1	PCYT1A	TP63	RPS6KA3	CHRNG	PSMD12	AGO2	SCUBE3	PACS1	DSPP	MYL2	IL6ST	FKBP6	CDH1	HDAC4	AXIN2	TPM2	KATNB1	TUBGCP2	CHRNE	HNRNPK	IFT43	KDM5C	GLI2	ANKH	BAP1	TRIO	CA2	ADAMTS2	BMP4	ZNF526	CDC42	DLX3	SOX5	MAP3K7	ATR	RUNX2	SETD1A	EIF2S3	BCAS3	GATAD2B	GNAI3	ATP6V1B2	CLIP2	HACD1	PIK3R1	KANSL1	SPEN	ERCC6	FGFR2	TGFA	EYA1	ROR2	FBN1	SATB2	MAN2B1	PPP1CB	IL1RAPL1	DPM2	RAD21	PCGF2	IGF2	PTH1R	ABCC9	FREM1	ALKBH8	CUL4B	KDM6A	NAA20	ADNP	GNB2	FGFR3	NAA10	POLR1D	ERCC8	TCOF1	DSE	FGFR1	MARS1	OFD1	CNOT2	UBE3B	NOTCH3	FLNA	DNMT3A	GRB10	PIGA	SMS	WNT5A	SCARF2	CDH11	CHST3	LRP5	KLK4	B3GLCT	ATRX	SELENON	COL5A1	MGAT2	MECP2	BAZ1B	BPTF	PAX1	MTM1	PRKACA	ELN	CCDC28B	DVL3	NDST1	NOTCH2	SUMO1	IFT57	RIC1	SMAD3	EIF4H	SHANK3	EDN1	RDH11	OCA2	XYLT1	ALX4	ERCC1	C12orf57	SET	RHOA	NXN	ITGA7	CBS	GJA8	RLIM	EDA	OCRL	BRAF	PRR12	GUSB	PEX6	BRF1	SPART	ACTA1	EDARADD	MASP1	NONO	KCNN3	COL1A2	HNRNPH1	THOC6	FLCN	CDK19	GPR101	WNT10A	SNRPN	TBX4	AMER1	ACVR1	DLG1	BRD4	UBE3A	MAP3K20	H19	RPL10	ACP5	ACTL6B	AFF3	HIVEP2	EDNRA	WNT10B	KCNJ5	CDH3	POLR1C	ZMPSTE24	GPR68	IFT52	XRCC4	BCOR	ENAM	SSR4	AMMECR1	METTL27	MBD5	DPH1	CDK5RAP2	SATB1	HDAC8	FAM83H	POLD1	AIP	PLEKHM1	SLC39A13	CCDC47	GTF2IRD1	MYOD1	NHS	HMGB3	NARS1	KDM1A	TRPS1	IRF6	SNX14	MAPK1	EXOSC5	PLOD1	GRHL3	TECPR2	BCL7B	IDS	NCF1	DOCK3	MYH3	MSX1	AMELX	DHCR7	TWIST1	LRP6	ITGB6	TBCD	KIDINS220	DYRK1A	RFC2	ABL1	MED27	TBL2	MYMX	PORCN	TRIM37	PUS7	SOS1	GTF2I	TAB2	EMC10	PRKD1	RAB3GAP2	ARSK	STX1A	DNAJC30	TBC1D24	RELT	LTBP3	TCIRG1	CDC42BPB	PLCB4	ASPH	NIPBL	KMT2D	TTI2	H4C5	DOCK7	GLB1	AEBP1	UPF3B	TAF6	FGF3	KCNH1	BRCA1	MADD	ARL6	INSR	HRAS	SMC3	ZBTB7A	SETD5	DCHS1	KIF15	POLR1B	BUD23	SETBP1	LOX	SOST	CERT1	PYROXD1	IRX5	BANF1	LGI4	MAP2K1	RAB3GAP1	SH3PXD2B	GJA5	GRIP1	CAMK2B	OBSL1	TPM3	TANC2	LMBRD2	PTEN	NECTIN1	RAI1	PDE4D	POLR2A	GTF2IRD2	KCNMA1	LIMK1	USP9X	MMP20	SH3BP2	SMARCD2	MED13L	FAT4	GPC3	WDR35	NECTIN4	COL3A1	ALX3	TMEM270	RNF2	AIMP2	GALNS	PIGS	DLX4	BBS1	ZSWIM6	ACP4	SOBP
HP_NATAL_TOOTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NATAL_TOOTH	KRT6B	POLR3A	SPECC1L	NEK1	CREBBP	JUP	KMT2C	GLI3	KDF1	KDM6A	KRT17	FAM20C	ZMPSTE24	FGFR2	LMNA	DSP	BCL11B	KRT16	CILK1	POLR3B	EHMT1	EVC2	MKS1	FLNA	PTH1R	C2CD3	AMER1	KRT6A	INTU	CEP120	VARS1	EVC	MID1	GTF2H5	EP300
HP_DELAYED_ERUPTION_OF_PERMANENT_TEETH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_ERUPTION_OF_PERMANENT_TEETH	MIA3	TBC1D24	PAX9	FAM20A	CTSK	NSD1	SUMO1	TONSL	EDARADD	GJA1	SLC37A4	NPHS1	MSX1	WNT10B	LRP6	ADAMTSL1	SMARCB1	ATP6V1B2	WNT10A	PIGF	SETD2	TFAP2B	AXIN2	TGFA	IRF6	KCNJ2	FGFR1	RUNX2	ROR2	APC2	EDA
HP_CONICAL_TOOTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONICAL_TOOTH	NEK1	NFKBIA	IKBKG	PAX9	SUMO1	TP63	ARHGAP29	RUSC2	MSX1	NECTIN1	EDARADD	WNT10B	LRP6	ATP6V0A2	ALX4	CTNND1	EVC2	CDH1	EDAR	SMARCD2	AXIN2	ST14	IRF6	RHOA	FGFR1	EVC	NECTIN4	FGF3	WNT10A	EDA	ARID1B	BMP4	ANAPC1	ATR	FGFR2	DYNC2LI1	ATP6V1B2	CCBE1	PDGFRA	KAT6A	GLI1	DLX4	B3GLCT	TSPEAR	TGFA	PRKACB	DHODH	PRKACA	DLG1	SATB2
HP_DIASTEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIASTEMA	KDM5C	ALX3	STAG1	UBE3B	PACS1	CHSY1	MGAT2	RNF2	ATRX	DNMT3A	IFT57	RDH11	ACTL6B	ABCC9	FREM1	HRAS	NHS	ANKRD11	GATAD2B	HMGB3	TCF12	KCNMA1	ARSK	TUBGCP2	PRKACA
HP_PERIODONTITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIODONTITIS	ELANE	OCRL	MIA3	FGF3	FERMT1	GFI1	LYST	DKC1	C1S	NOTCH2	SLC37A4	NPM1	NHP2	GORAB	COL3A1	CXCR4	SLC35C1	C1R	CLPB	NOP10	PARN	TCIRG1	TINF2	WRAP53	TERT	CAT	AEBP1	PLG	CTSC	SRP54	AP3B1	RTEL1	ITGB2	USB1	TYMS	CTC1	TERC
HP_AMELOGENESIS_IMPERFECTA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMELOGENESIS_IMPERFECTA	FAM20A	AMBN	SLC24A4	RELT	SLC10A7	SLC13A5	FAM83H	CLDN19	LTBP3	ODAPH	PEX6	CNNM4	ENAM	PEX1	AMELX	DLX3	ORAI1	ITGB6	KLK4	LAMB3	LAMA3	GPR68	ACP4	DNAJC21	MMP20	AMTN	SMARCD2	WDR72	SP6	TMEM165	STIM1	ROGDI	SATB1
HP_ERUPTION_FAILURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERUPTION_FAILURE	ZMPSTE24	ANTXR1	TCF4	APC	FGFR1	LEMD2	SH3BP2	SMCHD1	TRIO	IFIH1	MAP3K7	HOXD13	CDH11	PTH1R	LMNA	FLNA	FLNB
HP_PSYCHOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSYCHOSIS	FCGR2B	MT-ND4	DEPDC5	NPAP1	MT-ND5	SLC20A2	SLC12A6	SNORD115-1	SNRPN	STAT4	TREX1	HMBS	MKRN3	PWRN1	CHRNA4	SPG11	PDE8B	NDP	EIF3F	FCGR2A	SNORD116-1	MT-CO1	PWAR1	DNASE1	PANK2	UPF3B	NPC2	PCDH19	VCP	GSS	MAGEL2	TP53	PRKAR1A	ABCD1	PDE11A	MYORG	MT-TH	ITM2B	MT-TL1	TBC1D7	EPM2A	BRAF	KCNT1	H4C3	SLC6A19	PUS3	MECP2	ATP13A2	PAK3	NR3C1	RPS6KA3	MED12	SRCAP	TMEM106B	FTL	ALDH5A1	ATXN7	WARS2	NOTCH3	VPS13A	DCAF17	PSEN1	GRIN2A	PDGFB	PIDD1	ALDH4A1	KCNN2	OCA2	CHRNB2	HFE	MMACHC	ZDHHC9	NAGS	FAR1	GCLC	GRN	ALDH18A1	IRAK1	ATRX	PRKACA	PPOX	USP8	CLN3	FIG4	PARK7	MT-CO2	WFS1	NPC1	CABP4	CACNA1A	CPOX	CRH	NDN	GNAS	FRRS1L	MT-TF	CBS	SNORD118	SPP1	PTPN22	DNMT1	ZFYVE26	SLC7A7	PITRM1	PDGFRB	C9orf72	MT-ND6	PRNP	SLC25A13	MAPT	FUZ	CTLA4	TTC19	ARMC5	SPART	TREM2	NHLRC1	SQSTM1	CHRNA2	CDH23	MT-TS2	TWNK	HERC2	ZMYM2	MT-CO3	PRDM8	USP48	SOBP	MT-TW	TRRAP	SIM1	AIP	MT-TQ	PRORP	ACADS	MTHFR	CHMP2B	MT-ND1
HP_HYPERORALITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERORALITY	C9orf72	TMEM106B	MAPT	CHMP2B	GRN	DCTN1	ATP10A	PSEN1	TREM2	UBE3A	SHANK3	SQSTM1	SNRPN	VCP
HP_RESTLESSNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESTLESSNESS	PODXL	VPS35	MATR3	RNF13	NEK1	KCNJ11	PSEN2	HTT	EIF2S3	SPTBN1	GLDC	NGLY1	CDKL5	NAXE	HPD	ZBTB20	DCDC2	LSS	GLS	CHMP2B	GRN	SNCA	VAPB	SRCAP	PFN1	PLPBP	C9orf72	ANG	TBK1	UNC13A	ALAD	ATXN2	ALDH7A1	TSEN54	FUS	TMEM67	IGF1R	HSD17B10	FIG4	H4C5	PPARGC1A	PRKN	PRPH	WAC	ECE1	DNAJC13	ABCA7	HTRA2	AFF2	MAPT	APP	VCP	SATB1	COX10	TSHR	TARDBP	CLN8	TMEM106B	DNM1L	MECP2	UBQLN2	GABBR2	PAK3	GNS	GIGYF2	TREM2	UCP2	SUOX	SPAST	CLCN3	SQSTM1	LRRK2	GLE1	HNF1A	PINK1	PSEN1	EIF4G1	VPS13C	SYNJ1	PON1	ADCY5	PRNP	NAGS	OPTN	SATB2	NDST1	HMBS	GCSH	CCNF	ERBB4	SORL1	CYP27A1	ABCC8	DCTN1	SLC19A3	NTNG1	TOMM40	PON2	CFAP410	PDE11A	SOD1	CACNA1A	KIF11	CHCHD10	GNAS	SLC2A3	HNF4A	MED13L	PTS	ADA2	ATP6V0A1	UCHL1	BRAT1	DAO	KDM5C	SLC25A13	PRKAR1A	PARK7	DCX	ANXA11	GBA1	GLT8D1	SMC1A	DEAF1	PON3	ACAT1	NEFH	DNAJC6	TAF15	HNRNPA1	EPHA4	AMT	CTNNB1
HP_EMOTIONAL_LABILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMOTIONAL_LABILITY	NDUFV2	MATR3	SMARCE1	SPART	NDUFA9	NEK1	ARSA	CUL4B	SLC39A4	PRNP	TBK1	UNC13A	C19orf12	TNIK	ATXN2	SPG11	FUS	NDUFS7	PPARGC1A	PRPH	CLCNKA	TP53	EPM2A	NDUFA13	SDHA	CASR	MIR17HG	FMO3	ATP1A3	COX15	EIF2B3	SMO	EIF2B5	MECP2	TREM2	MTPAP	NDUFA2	GABRG2	FTL	DGCR6	BCS1L	VPS13A	GLE1	PDGFB	CLTRN	NDUFA12	MTFMT	NDUFAF2	NAGS	PSAP	GRIN2A	CREBBP	PGK1	ERBB4	HLA-DQB1	USP8	PSMD12	BAP1	PON2	CFAP410	LEPR	FOXRED1	TBX1	AKT1	CHCHD10	EIF2B1	DDC	SNORD118	MED12	ZFYVE26	CLCNKB	EIF2B4	NDUFA10	NF2	VCP	NHLRC1	TUBB3	NTRK1	ANXA11	GLT8D1	CDH23	DEAF1	PON3	NEFH	HDAC8	USP48	NDUFS3	TAF15	GNA11	CHMP2B	NDUFA4	SLC6A19	SLC1A3	NDUFS2	ESS2	DGCR2	SPTBN1	NDUFS1	LIPT1	VAPB	PLA2G6	PFN1	PDCD6IP	PIK3CA	LAS1L	TERT	ANG	SMARCB1	PDE8B	FIG4	PANK2	TACO1	NDUFV1	EIF2B2	PRKAR1A	PDE11A	TARDBP	DGCR8	BRAF	SLC19A3	PDHA1	POLG	UBQLN2	B4GALNT1	NR3C1	SRPX2	SARDH	NDUFS8	SQSTM1	SLC6A17	MAPK8IP3	PON1	ATP1A2	BPTF	PET100	OPTN	SATB2	GRIK2	NOTCH3	HLA-DRB1	CCNF	ATRX	NDUFAF6	PRKACA	DCTN1	TRAF7	RNF168	SUFU	CTSF	CACNA1A	BSND	SOD1	GNAS	HTRA1	RNF125	DAO	GALC	TWNK	FUZ	ARMC5	ECHS1	SURF1	NDUFS4	PDCD1	ELP1	C9orf72	NDUFAF5	HNRNPA1	AIP	EPHA4	EP300
HP_AGITATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGITATION	PODXL	VPS35	MATR3	NEK1	KCNJ11	PSEN2	HTT	EIF2S3	SPTBN1	CDKL5	DCDC2	LSS	GLS	SNCA	VAPB	PFN1	ANG	TBK1	UNC13A	ALAD	ATXN2	FUS	TMEM67	IGF1R	FIG4	H4C5	GRN	PPARGC1A	PRKN	PRPH	WAC	ECE1	DNAJC13	ABCA7	HSD17B10	HTRA2	AFF2	APP	SATB1	COX10	TSHR	TARDBP	VCP	UBQLN2	GABBR2	PAK3	GNS	GIGYF2	TREM2	UCP2	SUOX	SPAST	SQSTM1	LRRK2	GLE1	HNF1A	PINK1	EIF4G1	VPS13C	SYNJ1	PON1	ADCY5	NAGS	OPTN	NDST1	CCNF	ERBB4	SORL1	CYP27A1	ABCC8	DCTN1	NTNG1	TOMM40	PON2	CFAP410	PDE11A	SOD1	CACNA1A	KIF11	CHCHD10	GNAS	SLC2A3	HNF4A	MED13L	PTS	ADA2	ATP6V0A1	UCHL1	BRAT1	DAO	MECP2	PRKAR1A	PARK7	DCX	ANXA11	GBA1	GLT8D1	SMC1A	DEAF1	PON3	ACAT1	NEFH	C9orf72	DNAJC6	TAF15	HNRNPA1	PSEN1	EPHA4	CHMP2B
HP_DEPRESSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEPRESSION	PMS1	MT-ND4	DEPDC5	ADGRV1	ZIC2	SLC20A2	VPS37D	VCP	TREX1	PLCH1	HTT	SERPINA1	PRNP	TGIF1	C9orf72	TBK1	ATXN2	FUS	NODAL	PRKN	FMR1	PRPH	CDKN1B	DGUOK	SIX3	MAPT	ATXN8OS	RRM2B	EPM2A	ARSG	MSH2	CASR	PLA2G6	GP1BB	MYO7A	MT-TL1	TBC1D7	FMO3	CLRN1	ESPN	TET3	PPT1	TPH2	FKBP5	RPS6KA3	RREB1	DLL1	WARS2	CEACAM6	LRRK2	GAS1	MT-TN	XPR1	POLG	PDGFB	SYNJ1	KCNJ2	COQ2	SGCE	STIL	SHH	HS6ST1	HLA-DQB1	MLXIPL	FOXH1	GRIN2A	ARMC5	FGF8	ERBB4	LMNB1	GABRB3	USP8	AP1G1	LGI1	KCTD17	AMACR	PON2	CABP4	XK	GCLC	TBX1	FA2H	GNAS	CHCHD10	DCTN1	EHMT1	FKBP6	HTR2A	WDR11	UCHL1	DNMT1	MT-ND6	HFE	EDNRA	AR	SLC11A1	KCNT1	CDON	CDH23	GLI2	MT-TS2	IMPDH2	CLIP2	PON3	GNRHR	USH1G	USP48	TAF15	PLP1	MIF	MT-TQ	GNA11	MAN2B1	VPS35	SNCA	MT-ND5	FGFR1	SLC25A4	PER2	SPTBN1	ADH1C	CACNA1H	PFN1	PSAP	TOR1A	ALAD	NR1H4	PDE8B	FIG4	KCNN4	PANK2	DNAJC13	HTRA2	ATP1A3	NR4A2	PRKAR1A	THOC2	TARDBP	CACNA1G	AOPEP	STUB1	NSMF	GIGYF2	TCF4	SLC26A9	WFS1	MSH6	PTPN22	SPAST	TWNK	ATXN10	SQSTM1	MECP2	FGF14	SLC6A14	EIF4G1	PSEN1	ALDH4A1	PON1	COMT	PDGFRB	BAZ1B	ELN	HLA-DQA1	GNRH1	NOTCH3	SEC24C	HMBS	HLA-DRB1	WHRN	PCDH15	CCNF	ATRX	CTSF	PROK2	PRKACA	EIF4H	SLC2A1	SOD1	ARSA	CRH	BMPR1A	ATP13A2	CLN6	SEMA4A	SMC1A	CEP78	PTS	MT-TF	ATP7B	CDKN1A	DAO	CARS1	OCRL	DNAJC5	SLC6A4	MEN1	TGFB1	FGF17	PARK7	GBA1	HLA-B	PDCD1	GPR101	P4HA2	CEACAM3	RELN	STX1A	GALT	DISP1	EPHA4	PODXL	CBS	MATR3	NEK1	GDAP2	PAH	TSHB	GRN	CHD7	UNC13A	C19orf12	CHRNA4	PPARGC1A	PTCH1	SLC9A3	MT-TT	MSTO1	METTL27	COASY	PPP2R2B	TDGF1	TP53	STX16	TRHR	GLA	MT-TH	CLCA4	COL7A1	AIP	FAN1	CPOX	GTF2IRD1	GABRG2	TREM2	PRKCG	GLUD2	DNA2	IRF4	UQCRC1	KISS1	IFNG	MAMLD1	KRAS	BCS1L	CLCN4	GLE1	PINK1	VPS13C	SNCAIP	CDKN2B	VPS13A	ABCB11	CHRNB2	BCL7B	GPR35	NCF1	MLH1	USH1C	CRKL	DUSP6	CFAP410	TBP	DCTN4	RFC2	PIK3CA	TBL2	POLG2	CLN3	TACR3	TTC19	NHLRC1	TAC3	GTF2I	ANXA11	GLT8D1	CHRNA2	NEFH	MAPK1	CDKN2C	GSN	CHMP2B	DNAJC30	BCR	CISD2	VAPB	ANG	HIRA	CACNA1I	GABRA1	FLT4	STAG2	MT-CO1	HARS1	ABCA7	SPRY4	PDE11A	MT-TL2	SMPD1	ARVCF	TMEM106B	BRAF	UBQLN2	NR3C1	SLC7A6OS	GCH1	BUD23	TSC1	SRPX2	EPCAM	RPS20	AP2S1	CIB2	JRK	HMOX1	GSTM3	OPTN	TGFBR2	MST1	PMS2	CYP27A1	MMP1	JPH3	MT-CO2	KMT2B	DRD2	CSF1R	TSC2	GTF2IRD2	LIMK1	SLC2A3	MLH3	KISS1R	USH2A	TMEM270	SEMA4D	AARS2	CFTR	ABCB4	CEP85L	ATP8B1	IDUA	JMJD1C	SDHA	TK2	AFG3L2	MT-CO3	PROKR2	PDZD7	DNAJC6	HNRNPA1	MT-TW	PER3	UFD1	MT-ND1
HP_AUTISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AUTISM	BRD4	SEMA3E	VPS37D	TSC1	PAH	TBX1	SNRPN	SCN8A	SDHD	EEF1A2	DNM1	ZBTB20	MKRN3	GABRA5	CASZ1	CACNA2D1	NECAP1	CDK19	CACNA1B	NLGN3	TUBG1	EHMT1	SPEN	FGF13	TBR1	METTL27	ATP1A3	SYNGAP1	SKI	SATB1	TCF12	SEC23B	MAGEL2	AP3B2	HDAC8	DHCR7	HSPG2	CNKSR2	GP1BB	DHDDS	ADSL	GRIA3	ALG14	GTF2IRD1	NTRK2	NHS	RREB1	DYRK1A	AHDC1	FGF12	UBE3A	ALDH5A1	IFNG	SMC1A	ACTL6B	CACNA1C	PROKR2	DPAGT1	CREBBP	BCL7B	MEIS2	MLXIPL	CACNA1A	CNTNAP2	SLC38A3	GAMT	NCF1	NDP	NIPA1	HNF1B	YWHAG	YY1	PRKAR1A	PRDM16	LUZP1	PPP3CA	STS	SZT2	FKBP6	ARNT2	MAN1B1	SMAD4	ARCN1	ASXL3	RFC2	MED12	TBL2	SOX3	NAGA	PDPN	SATB2	CHD8	PIK3CA	GTF2I	GABRB2	MED13L	ATP1A2	TAOK1	GNB1	KCNAB2	PARS2	DEAF1	HERC2	CLIP2	FMR1	GLRA2	DPYD	KCNA2	GABRA2	FLG	NDN	EXT2	STX1A	OCA2	MECP2	IL1RAPL1	DNAJC30	NPAP1	KDM5C	RAD21	SH2B1	MAOA	SNORD115-1	SPTBN1	RERE	SDHB	NAA20	GABRD	PWRN1	USF3	NR2F1	PTCHD1	CHD7	BCKDK	HIRA	ALAD	IQSEC2	SCN3A	H4C5	SNORD116-1	ALG13	PWAR1	PRKCZ	TMLHE	DALRD3	HESX1	SOX2	SLC9A6	ARVCF	RPL10	REV3L	SMC3	SLC35C1	NIPA2	HDAC4	BUD23	NFIB	WWOX	PDE4D	CDK13	AARS1	MMP23B	PLXND1	TRAK1	GABRG2	HCN1	COMT	BAZ1B	KCNB1	ELN	CLTC	ANKRD11	FTSJ1	EP300	LHX1	SEC24C	GATM	GJA5	OTX2	FTCD	CYP27A1	RAI1	UBE4B	CHRNA7	GRIN2D	EIF4H	PTEN	NIPBL	TSC2	GTF2IRD2	LIMK1	ATRX	ATP6V1A	PAK2	SLC13A5	PIGL	AKT1	GJA8	TMEM270	NLGN4X	FGFR1	GABBR2	ARV1	CYFIP2	SIN3A	JMJD1C	NONO	CELF2	UBA5	NUS1	SLC1A2	FLCN	FZR1	SYNJ1	KLLN	SHANK3	TBCK	UFD1	SDHC
HP_AGGRESSIVE_BEHAVIOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGGRESSIVE_BEHAVIOR	CEP290	ADAT3	WARS2	MAN1B1	MGAT2	C12orf4	ODC1	NSD2	CUL4B	NSDHL	HTT	ZBTB20	CILK1	HIVEP2	CACNA1A	CACNB4	SYN1	KMT5B	TMEM67	SMARCB1	NDP	SETD2	EHMT1	OCRL	FBXL3	WAC	MBD5	ANK3	DPYSL5	VCP	TMEM231	NAGLU	ARID1B	CEP152	FBXW11	IQSEC1	TCF4	ADSL	FMO3	ATP1A3	SMARCA4	GRIA3	ALG14	WDR62	EEF1A2	PUS3	ATP13A2	PAK3	GNS	SHMT2	CAMTA1	NKAP	DNM1	ABCA2	ALDH5A1	IFNG	DGCR6	CLCN4	VPS13A	NAGS	DDX3X	UROC1	KDM5B	PRODH	GRIN2A	PIDD1	MAPK1	DPAGT1	TRAPPC10	CLN5	MED12L	SLC6A17	NRCAM	UBE4A	USP9X	STEEP1	RBBP8	CREBBP	GCSH	CHMP2B	GRN	TRIP12	CNTNAP2	SLC6A8	GAMT	RUSC2	UBTF	PSMD12	AP1G1	PLA2G6	FIG4	DHCR7	IMPA1	AGO2	BCOR	TBX1	TBP	KIF11	PPP2R5D	PACS1	TCF20	VPS16	LINGO1	MECP2	DYRK1A	ARPC4	LMAN2L	PIGH	KMT2A	MED12	APC2	KDM5C	UBE2A	CLN3	ARID1A	PRNP	SMARCC2	SLC25A13	CHKA	PUS7	EFHC1	TRIO	TTC19	SATB2	HDC	SOX5	ENTPD1	CUX2	AP1S2	SQSTM1	KCNT1	SETD1A	EIF2S3	GNB1	FRMPD4	TFE3	POU4F1	DEAF1	SH2B1	CLCN2	CHD5	SPEN	SMARCD1	TIMM50	PDE2A	SLC1A3	RORB	PRKAR1B	ESS2	MAOA	DGCR2	KDM4B	TMEM147	CDC42BPB	SPTBN1	GLDC	DCDC2	KMT2E	SRCAP	KCNQ3	SLC2A1	PTCHD1	DPYD	NAA10	HERC2	HDAC4	NBEA	TTI2	ZMYND11	CTNNB1	ELP2	HSD17B10	TMEM222	POGZ	AFF2	SOX4	PCDH19	CHD2	SUCLG1	GABRD	MANBA	INPP5E	NSD1	DGCR8	DNMT3A	MAPK10	BCAP31	TTC5	JRK	GABRB3	ECM1	PIGY	TMEM240	ATXN10	MYT1L	SLITRK1	UQCC2	SETBP1	TMEM106B	SASS6	SPAST	PSMB1	TSC1	NFIB	WDR45	USP7	FGF14	NEXMIF	PSEN1	ALDH4A1	HNRNPH2	ATP1A2	BPTF	LINS1	FTSJ1	ARID2	PYCR2	STT3A	ZMIZ1	GRIK2	NDST1	SLC52A2	KNL1	CAMK2B	CYP27A1	SARS1	DYNC1I2	TSC2	SCN1A	SLC2A3	HTRA1	NFASC	MED13L	FRRS1L	DPF2	ATP7B	GABRA1	LEPR	METTL5	SMARCE1	SOX11	RLIM	C9orf72	FMR1	SMARCA2	MAPT	PRRT2	BRF1	CEP85L	SIN3A	TREM2	MAB21L1	NONO	FOXP1	IQSEC2	SPR	MED25	TYROBP	EBP	BCORL1	KDM3B	ADNP	HEPHL1	NAXD	SHANK3	AMT	PHIP	EP300
HP_INAPPROPRIATE_BEHAVIOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INAPPROPRIATE_BEHAVIOR	UBE3A	PSAT1	PHGDH	WDR4	CDKL5	GRIK2	CHMP2B	GRN	GATAD2B	GABBR2	SLC19A3	NOVA2	SNRPN	NTNG1	KANSL1	MAPT	GALC	OCA2	FOXG1	PRKAR1B	IQSEC2	HSD17B10	CSF1R	GRIN1	DCTN1	TBC1D2B	MBD5	ATP7B	PGAP1	PSEN1	VCP	C9orf72	SLC9A6	GLI3	GNAS	ADSL	NTNG2	GM2A	FOCAD	ATP10A	TREM2	SLC18A2	SQSTM1	SMC1A	TYROBP	DYRK1A	PIGS	KIF15	PSAP	TMEM106B	ALG9	ATRX	SLC6A17	PIDD1	MECP2	VPS13A	PDE2A
HP_OBSESSIVE_COMPULSIVE_BEHAVIOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OBSESSIVE_COMPULSIVE_BEHAVIOR	BRD4	SCN1A	DNAJC30	PPM1D	RAD21	PDZD8	SYNGAP1	SEMA3E	VPS37D	KDM4B	CLCN3	TBX1	SNRPN	SPTBN1	HTT	BCR	GRIA2	SRCAP	DMPK	NR2F1	CHD7	ADNP	COASY	SCN1B	EHMT1	FMR1	PANK2	METTL27	STX1B	SETD5	POGZ	AFF2	ELN	VCP	GABRG2	MAGEL2	HDAC8	CREBBP	ARID1B	SCN9A	CEP152	FMO3	CLCN4	SMC3	GTF2IRD1	SLC35C1	HDAC4	ASH1L	GCH1	BUD23	SLITRK1	TMEM106B	NFIA	UBE3A	SMC1A	NR4A2	GABRD	USP7	MAPK8IP3	PSEN1	NLGN1	HNRNPH2	ADCY5	VPS13A	SGCE	BAZ1B	SCN8A	TIAM1	CLN5	OCA2	SCN2A	BCL7B	USP9X	MLXIPL	GRN	GRIA1	NCF1	TKT	UBE2A	PCDH19	AP1G1	CRKL	KCTD17	EIF4H	DRD2	NIPBL	NKX2-1	XK	SLC45A1	GTF2IRD2	LIMK1	TCF20	VPS16	SLC2A3	FKBP6	SIN3B	HTR2A	RFC2	YWHAG	ADGRV1	MED12	TBL2	TLK2	CARS1	TMEM270	OCRL	PITRM1	C9orf72	SLC6A4	MAPT	TRIO	TTC19	GTF2I	HDC	SIN3A	TREM2	TOR1A	FOXP1	HCN1	SQSTM1	GATAD2B	NDN	IMPDH2	CLIP2	MAP1B	MAPK1	CHD5	TRRAP	GABRA1	DPF2	STX1A	AUTS2	EP300	CHMP2B
HP_RESTRICTIVE_BEHAVIOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESTRICTIVE_BEHAVIOR	C9orf72	NLGN4X	TMEM106B	MAPT	NLGN3	GRN	SPTBN1	GABBR2	CDKL5	PSEN1	TREM2	MECP2	SQSTM1	SNRPN	NTNG1	SMC1A	VCP	CHMP2B
HP_PSYCHOTIC_EPISODES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSYCHOTIC_EPISODES	SLC7A7	CDH23	TP53	PITRM1	PRKAR1A	NAGS	PDE11A	PDE8B	GNAS	ARMC5	USP48	BRAF	ATRX	HMBS	PRKACA	USP8	SNORD118	ATP13A2	NR3C1	MTHFR	PARK7
HP_DEMENTIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEMENTIA	MT-ND4	PODXL	TREM2	TYROBP	VCP	PSEN1	MATR3	ADA2	FUS	MMACHC	GCDH	SNCB	PNPLA6	CP	MT-ATP6	MT-CYB	MT-ND6	GRN	HNRNPA2B1	SNCA	C9orf72	C19orf12	SPG11	PRKAR1B	NDP	ATP13A2	POLG	TIMM8A	MT-TC	MT-TT	PRKN	FMR1	DGUOK	GBA1	PPP2R2B	NPC2	MAPT	APP	ATP6V1A	TP53	TWNK	ATN1	HFE	EPM2A	TRPM7	MT-CO3	DNMT1	MT-TH	PLA2G6	ITM2B	MT-TL1	PSEN2	MBTPS2	ATP7B	GLUD2	GM2A	RNF216	FBXO7	FTL	PANK2	ASAH1	VPS13A	LRRK2	SERPINI1	XPR1	PINK1	VPS13C	PDGFB	SNCAIP	SYNJ1	MT-CO1	APOE	GBA2	NOTCH2NLC	TMEM106B	CHMP2B	SPG21	CUBN	PDGFRB	USP8	MT-TV	COL4A1	TOMM40	KCTD7	WFS1	TBP	MT-ND5	SCARB2	DCTN1	ATXN2	TUBB4A	CST3	CYP27A1	UCHL1	MT-TK	PRNP	CCNF	CHCHD10	CLN3	HLA-DQB1	NHLRC1	MT-TS2	MT-TW	SQSTM1	AARS1	CDH23	LMNB1	MPO	USP48	MT-TQ	HTT	ATXN8OS	VPS35	DLAT	GBE1	CYLD	CERS1	ADH1C	CSTB	NOS3	ATP6V1E1	ZFYVE26	TBK1	TYMP	ERCC8	SDHB	PSAP	DNAJC13	ABCA7	TARDBP	HTRA2	NR4A2	ABCD1	RRM2B	ERCC4	CFAP43	HTRA1	BRAF	LIG3	MT-TF	TREX1	NR3C1	CISD2	GIGYF2	HNRNPA1	SPAST	ATXN10	NOTCH3	WDR45	EIF4G1	PRICKLE1	MT-TE	ALDH18A1	TUBA4A	FAR1	SORL1	JPH3	ATRX	APTX	SDHAF1	CTSF	MT-CO2	NPC1	SDHA	CSF1R	DNM1L	ARSA	PLAU	CLN6	OPA1	ATP6V0A2	MT-ND1	AUH	TTR	DNAJC5	AARS2	SLC13A5	SDHD	LYST	PARK7	PRDX1	ATXN3	IRF6	CLN8	RAB39B	PRDM8	DNAJC6	TIA1	UBQLN2	ROGDI	STARD7
HP_FRONTAL_LOBE_DEMENTIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRONTAL_LOBE_DEMENTIA	PODXL	CSF1R	TBP	TREM2	SNCA	FTL	TYROBP	DNAJC6	PARK7	PINK1	PRKN	LRRK2	VPS13C	SYNJ1	HTRA2	UCHL1	PSEN1	CHCHD10	MAPT
HP_AUTISTIC_BEHAVIOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AUTISTIC_BEHAVIOR	UBA2	SCN1A	PDZD8	MEF2C	SEMA3E	VPS37D	NLGN4X	PHF21A	NSD2	CTCF	SPATA5	SDHD	EEF1A2	CDKL5	HECW2	DNM1	ZBTB20	DLK1	GRIA2	GABRA5	CASZ1	CACNA2D1	EP300	ZIC1	CDK19	PIGY	SMARCB1	NLGN3	ASXL3	TUBG1	SETD2	EXTL3	DPYD	EHMT1	PRKN	STX1B	IFT140	DPYSL5	VCP	TCF12	SEC23B	MECP2	MAGEL2	SPECC1L	TRIM8	DHCR7	HSPG2	MFSD2A	SLC35A3	TBC1D2B	SCN9A	FBXW11	ATP2B1	TCF4	SLC12A2	RSPRY1	GP1BB	ADH5	MED13	CHD1	SMARCA4	TET3	NTRK2	SNRPN	WAC	CAMTA1	RREB1	KAT6A	DYRK1A	SCN2A	ALDH5A1	SMC1A	ACTL6B	CELF2	TAF1	WARS2	GABRD	SYNGAP1	GRIN1	ARID1B	NLGN1	SYNJ1	AP2M1	MED12L	JAG2	CEP290	CREBBP	GFM2	STAG1	USP9X	MLXIPL	SATB2	CACNA1A	CARS2	KMT2C	GRN	SLC6A8	GAMT	NDP	NIPA1	PSMD12	YWHAG	ADGRL1	AP1G1	YY1	RALA	POU3F3	VAMP2	AGO2	TBX1	PRDM16	PIGQ	PPP2R5D	TCF20	CLTC	LINGO1	FKBP6	ARNT2	DMXL2	CC2D2A	MAN1B1	UCHL1	SOX3	APC2	NAGA	NPRL2	ARID1A	CHKA	BAP1	TRIO	PDPN	CHD8	PIK3CA	TMTC3	RIMS2	FOXP1	RPGRIP1L	MED13L	SETD1A	GNB1	FRMPD4	GATAD2B	PDE4D	POU4F1	ATP6V1B2	CLIP2	FMR1	SUPT16H	CDH2	MAP1B	SPEN	TRRAP	GABRA2	FLG	NDN	SMARCD1	MID1	SIK1	SETD1B	SCN1B	EXT2	IL1RAPL1	SRY	SVBP	KDM5C	RAD21	PRKAR1B	PCGF2	KDM4B	CIC	SNORD115-1	RERE	SPTBN1	GLYCTK	SDHB	DHX30	NAA20	CHD2	SLC6A1	PWRN1	TMEM216	MED12	CHD7	ADNP	GNB2	ALAD	GALNT2	IQSEC2	SCN3A	NAA10	HERC2	GRM7	MEIS2	PWAR1	ZMYND11	ALG11	SRP54	CTNNB1	HTRA2	POGZ	UPF3B	FBLN5	GABRG2	PACS1	SLC9A6	NSD1	ZNF423	HEXB	MAPK10	MEG3	REV3L	TTC5	SLC35C1	GABRB3	NIPA2	MYT1L	SRCAP	TOE1	NAA15	NFIB	TNPO2	CLCN3	CDK13	AARS1	MMP23B	PLXND1	MAPK8IP3	TRAK1	PSEN1	ALDH4A1	HCN1	SIM1	COMT	BAZ1B	SCN8A	RSRC1	OCA2	ELN	ANKRD11	FTSJ1	TM4SF20	CDK8	POLA1	LHX1	ZMIZ1	JAM2	SEC24C	RPS23	PCDH19	PIGG	NTNG1	GRIN2A	CASK	SON	USP7	CHRNA7	KCNC2	EIF4H	SHANK3	WDR26	PTEN	H4C11	STAG2	SNCA	FGF13	TBL1XR1	MCTP2	SOX6	ATP6V1A	PAK2	SLC13A5	SIN3B	EFL1	ATP6V0A1	GJA8	PIGO	NPRL3	METTL5	SMARCE1	SOX11	RLIM	ZNF462	TLK2	C9orf72	POMT1	GNAQ	PIGP	PRR12	FGFR1	DLL1	ARV1	ALDH18A1	PARK7	SIN3A	TREM2	LRRK2	TMEM237	AUTS2	NONO	PUF60	ZFPM2	FLCN	ACOX1	FZR1	BCORL1	KDM3B	GALT	GABRA1	PLA2G6	SDHC	CNOT3	TSC2	CHMP2B	BRD4	EIF5A	PPM1D	PODXL	SH2B1	C12orf4	IARS1	RAB39B	TSC1	PAH	LSS	AFF3	QRICH1	ACSL4	COG5	MKRN3	HIVEP2	NECAP1	SYN1	KMT5B	CACNA1B	FOXG1	TNRC6B	MTSS2	TBR1	PIGV	METTL27	ATP1A3	MBD5	ANK3	SKI	SATB1	AP3B2	HDAC8	CNKSR2	MTOR	THOC2	DHDDS	ADSL	GRIA3	RORA	ALG14	PHACTR1	GTF2IRD1	SLC25A22	NHS	AHDC1	SMARCA2	FGF12	GNAO1	UBE3A	IFNG	CLCN4	CACNA1C	SNX14	PINK1	PRODH	OTUD6B	VPS13C	PROKR2	BCL11B	DPAGT1	TIAM1	CLN5	CHMP1A	SBF2	UBE4A	BCL7B	STEEP1	NEXMIF	ZNF711	TRIP12	CNTNAP2	SLC38A3	GRIA1	GABBR2	NCF1	HNF1B	UBTF	PRKAR1A	WFS1	BCOR	LUZP1	PPP3CA	ARX	STS	ATG7	SZT2	DEPDC5	SMAD4	ARCN1	RAC1	RFC2	ADGRV1	TBL2	PACS2	CDH15	TUBB3	GTF2I	GABRB2	CUX2	SQSTM1	ATP1A2	TAOK1	KCNAB2	TFE3	PARS2	DEAF1	SMARCC2	ZMYM2	MSTO1	GLRA2	BICRA	RNF135	CHD5	KCNA2	KDM6B	TMEM231	NUS1	PRORP	CDH11	STX1A	SLC2A1	KCNA1	DNAJC30	KPTN	NPAP1	TBC1D24	ALMS1	TBX2	ZNF292	MAOA	CDC42BPB	NOVA2	USF3	NR2F1	PTCHD1	KAT8	BCKDK	HIRA	CAPN15	PPP2CA	NBEA	H4C5	SNORD116-1	ALG13	PRKCZ	TMLHE	SETD5	DDX3X	DALRD3	TMEM222	AFF2	SOX4	SBDS	HESX1	TOGARAM1	DOLK	H3-3A	MADD	SOX2	PUS3	MAN2C1	ARVCF	RPL10	SMC3	NCAPD2	ZBTB7A	HDAC4	SYT1	ASH1L	HERC1	BUD23	SETBP1	TMEM106B	WWOX	INTS1	PGAP2	HNRNPH2	KCNN2	KCNB1	MBOAT7	ARID2	GRIK2	GATM	GJA5	OTX2	CAMK2B	TMEM138	FTCD	CYP27A1	TANC2	DMPK	RAI1	KANSL1	UBE4B	KMT2B	GRIN2D	POLR2A	NIPBL	PLXNA1	OPHN1	DNAJC21	PIGW	GTF2IRD2	LIMK1	ATRX	ANKRD17	PGAP3	PIGL	FRRS1L	ZNFX1	DPF2	DLG4	AKT1	NF1	TMEM270	MAPT	ATP1A1	CYFIP2	NTNG2	NEUROD2	CEP85L	DCX	JMJD1C	OTUD5	UBA5	FOXP2	RTL1	CLN8	PIGS	SLC1A2	PSMC3	GNAI1	AP1S2	CUL3	ZSWIM6	KLLN	DNAJC6	NFIX	TBCK	UFD1	PNKP
HP_INFLEXIBLE_ADHERENCE_TO_ROUTINES_OR_RITUALS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFLEXIBLE_ADHERENCE_TO_ROUTINES_OR_RITUALS	NLGN4X	FOXP1	NLGN3	SNRPN	MECP2	GLRA2
HP_MOTOR_STEREOTYPY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOTOR_STEREOTYPY	UBE3A	DEPDC5	PDZD8	WDR4	MEF2C	MGAT2	KAT5	NACC1	RAB39B	NLGN4X	NSD2	CLCN3	HTT	GLYCTK	TBX1	SPATA5	CDKL5	HECW2	DEAF1	ZBTB20	AFF3	GRIA2	CASZ1	CHRNA4	KMT5B	FOXG1	SIK1	NLGN3	ASXL3	FBXO28	EXTL3	EHMT1	SPEN	OCRL	CTBP1	TBR1	MBD5	PGAP1	NPC2	DPYSL5	VCP	SKI	SATB1	MECP2	TRIM8	HSPG2	FBXW11	THOC2	FGFRL1	CHD1	TMEM67	TBC1D23	SNRPN	ZEB2	SHMT2	GABRG2	KAT6A	DYRK1A	NARS1	SMARCA2	IFNG	LARP7	RAI1	CELF2	HNRNPR	PRODH	GRIN1	DPAGT1	ZBTB18	EEF1A2	CHRNB2	NAGS	LMNB1	CREBBP	CHMP2B	GRN	CNTNAP2	SLC6A8	GABBR2	NDP	TKT	GABRB3	KCNB1	ADGRL1	IQSEC2	EXT2	VAMP2	CABP4	RAB11B	PRDM16	SMC1A	TBCD	LUZP1	PPP2R5D	TCF20	TRAPPC6B	FLII	DDC	KIF5C	RAC1	NAT8L	ARPC4	KMT2A	DDX6	NMNAT1	PUS7	TRIO	OPHN1	ZNF526	PDPN	CHD8	GRIN2A	TUBB3	FOXP1	EBF3	SOX5	SQSTM1	TAOK1	KCNAB2	TFE3	CHRNA2	MACF1	FMR1	ZMYM2	BICRA	NTRK2	DPF2	AUTS2	PDE2A	KPTN	PRKAR1B	SYNGAP1	LETM1	CPLX1	SH2B1	ATRX	CIC	SPTBN1	CAMTA1	GUCY2D	ALKBH8	RERE	DHX30	NOVA2	NAA20	GABRD	CACNA1H	CEP85L	RTTN	ADNP	GNB2	AP4B1	HERC2	CHAMP1	GABRA1	TTI2	H4C5	DOCK7	PRKCZ	SLC1A4	ELP2	TMEM222	POGZ	AFF2	SYT1	TCF4	AP4M1	MADD	SLC9A6	KCNT1	HDAC4	ASH1L	KIF15	TMEM106B	TSC1	NAA15	CERT1	MMP23B	NEXMIF	PSEN1	HNRNPH2	JRK	KCNN2	CUX2	CHD3	POLA1	GRIK2	GJA5	TANC2	NR2F1	KYNU	NTNG1	TARDBP	UBE4B	WDR26	SLC2A1	OCA2	NAA10	RBL2	TSC2	HUWE1	CRB1	CRH	NAPB	SCN1A	DHPS	GJA8	RPE65	C9orf72	MAPT	AP4E1	DLL1	NTNG2	TREM2	BRAF	PUF60	TRAPPC9	AP4S1	FLCN	GNAI1	CDK19	ZSWIM6	BCORL1	VARS1	SHANK3	DNAJC19	ARID2	EP300
HP_DISINHIBITION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISINHIBITION	FGF8	ADAT3	PODXL	TREM2	DLL1	TYROBP	FUS	SCN8A	EEF1A2	DNM1	HTT	HIVEP2	GABRA5	CACNA2D1	NECAP1	CDK19	C19orf12	CACNA1B	FGF13	PRKN	FMR1	ATP1A3	PSEN1	DPYSL5	SYNGAP1	APP	VCP	AP3B2	MAGEL2	CNKSR2	SCN9A	CEP152	FBXW11	DNMT1	DHDDS	WDR62	SIX3	NTRK2	FGF12	IFNG	ACTL6B	VPS13A	LRRK2	PHIP	PINK1	CDON	VPS13C	SYNJ1	CREBBP	VANGL1	CACNA1A	GCSH	CHMP2B	GRN	FOXH1	GRIN2A	SLC38A3	UBTF	YWHAG	PTCH1	LGI1	MAPT	TOMM40	PCDH19	TDGF1	CLTC	PPP3CA	VPS16	DCTN1	SZT2	C9orf72	ARPC4	UCHL1	GABRB2	SQSTM1	ATP1A2	PARS2	CDH2	KANSL1	SPEN	KCNA2	GABRA2	SCN1B	GAS1	SHH	IL1RAPL1	SLC1A3	VPS35	MAOA	PSEN2	SPTBN1	GLDC	NAA20	SNCA	SRCAP	COQ5	PLA2G6	GABRB3	PTCHD1	DEPDC5	GNB2	TBK1	SCN3A	H4C5	PANK2	DNAJC13	ABCA7	TARDBP	DALRD3	HTRA2	AFF2	SCN1A	TMEM240	GIGYF2	GABRG2	TMEM106B	SPAST	TSC1	WWOX	STIL	AARS1	USP7	TRAK1	EIF4G1	TGIF1	HCN1	KCNB1	SCN2A	POLA1	FUZ	EP300	GRIK2	KNL1	SORL1	SUGCT	GRIN2D	NTRK1	TSC2	NODAL	ATP6V1A	SLC2A3	SLC13A5	DISP1	GABBR2	ARV1	CYFIP2	PARK7	GBA1	CELF2	UBA5	NUS1	GLI2	SLC1A2	CHCHD10	FZR1	RELN	BCORL1	DNAJC6	ZIC2	FTL	NONO	HEPHL1	GABRA1	AMT
HP_IMPAIRED_SOCIAL_INTERACTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_SOCIAL_INTERACTIONS	GFM2	PODXL	SYNGAP1	NEXMIF	SH2B1	CREBBP	NLGN4X	SLC6A8	SPTBN1	GABBR2	CDKL5	DLK1	SNRPN	CHD2	NTNG1	OPHN1	FOXG1	SNCA	IQSEC2	NLGN3	CLTC	EXTL3	LINGO1	ZMYND11	ALG11	PRKN	TBR1	NF1	MBD5	HTRA2	UCHL1	MED12	TRIM8	FMR1	PUS3	TUBB3	MAN2C1	PARK7	PLA2G6	LRRK2	MEG3	TET3	RTL1	SMC1A	CNTNAP2	HERC1	POLA1	GRIN1	ACOX1	DNAJC6	WARS2	ADNP	PINK1	SLC6A1	NLGN1	VPS13C	SCN1A	SYNJ1	MECP2	SHANK3	AP2M1	SLC2A1	CHMP1A	EP300
HP_SHORT_ATTENTION_SPAN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_ATTENTION_SPAN	PMS1	FGF8	MT-ND4	DEPDC5	PDZD8	DLL1	ZIC2	SEMA3E	ODC1	VPS37D	AASS	PHF21A	EEF1A2	PLCH1	HOXA2	DEAF1	DNM1	PRNP	TGIF1	GNE	GABRA5	CACNA2D1	CDK19	SPG11	TMEM67	NODAL	TUBG1	SETD2	PRKN	CDKN1B	SIX3	SYNE1	ATP1A2	DHCR7	CC2D1A	SCN9A	MSH2	GP1BB	MT-TL1	LGI3	ADH5	MED13	TET3	LIG4	EIF2AK1	NTRK2	WAC	DNAJC12	MED12	RREB1	NKAP	SMC1A	ACTL6B	TAF1	HNRNPR	GAS1	PHIP	NLGN1	SCN1A	SYNJ1	HSPG2	AP2M1	STIL	SHH	MED12L	SH3KBP1	CREBBP	ASPM	ZDHHC9	MLXIPL	SATB2	FOXH1	GRIN2A	CACNA1A	SLC6A8	NDP	NIPA1	GABRB3	YWHAG	ADGRL1	YY1	AGO2	CABP4	CNKSR2	KIF11	TBX1	STAG2	GLRX5	SRPX2	CLTC	DRD4	IGF1	FKBP6	FLII	UBE3A	UCHL1	KMT2A	APC2	MT-ND6	BAP1	TRIO	FOXP1	HDC	SOX5	RAI1	SETD1A	GNB1	CDON	GLI2	GRIA4	MT-TS2	CLIP2	CDH2	NOP56	MAP1B	SPEN	GABRA2	FLG	MID1	MT-TQ	SCN1B	MAN2B1	SPRED1	RAD21	PRKAR1B	PCGF2	MT-ND5	FGFR1	KDM4B	CIC	SNORD115-1	CSGALNACT1	RERE	SPTBN1	CAMTA1	DLG3	ALKBH8	CHD2	ARSA	PLA2G6	SLC6A1	PWRN1	CACNA1H	CHD7	FGFR3	SCAPER	SCN3A	DRD5	PWAR1	SRP54	HTRA2	ABCD1	ATP6V0A1	NSD1	KCNT1	DDB1	THRB	SLC6A19	NIPA2	MSH6	SLITRK1	NFIA	NAA15	TNPO2	AARS1	TRAK1	TUBA1A	ALDH4A1	HCN1	SIM1	COMT	BAZ1B	RSRC1	ELN	CDK8	POLA1	EP300	ZMIZ1	SEC24C	RIC1	FLI1	MAGEL2	CHRNA7	EIF4H	SLC2A1	NTRK1	OCA2	KIF14	SNCA	CRH	BMPR1A	MCTP2	SOX6	ATP6V1A	SEMA4A	SLC13A5	SIN3B	TRAPPC14	AUH	DYRK1A	EFL1	MT-TF	METTL5	CDKN1A	TLK2	CARS1	OCRL	IGF2	SMARCA2	GNAQ	MEN1	PRR12	ARV1	PARK7	SIN3A	LRRK2	CELF2	PTEN	FZR1	BCORL1	SYNGAP1	KDM3B	GALT	DISP1	GABRA1	TSC2	IKBKG	BRD4	PNKP	PPM1D	PODXL	SH2B1	C12orf4	TUBB2B	KAT5	TSC1	PAH	SCN8A	TSHB	NF1	MKRN3	SNRPN	HMGA2	PANK2	NECAP1	TNIK	CHRNA4	KMT5B	CACNA1B	FANCD2	FGD1	ATP13A2	TIMM8A	TNRC6B	PTCH1	FGF13	METTL27	ATP1A3	MBD5	TDGF1	DPH1	SATB1	AP3B2	HDAC8	IQSEC1	MT-TH	DHDDS	FAN1	GTF2IRD1	PAK3	SHMT2	GABRG2	SHOC2	PRKCG	FGF12	IFNG	FANCL	KRAS	PINK1	VPS13C	PIDD1	CDKN2B	MAPK1	VPS13A	TIAM1	CHRNB2	UBE4A	GNB5	BCL7B	STEEP1	PSAP	NEXMIF	PPP1R21	SLC38A3	GRIA1	NCF1	PDGFRB	TKT	MLH1	CRKL	FBXO11	IQSEC2	PCDH19	TUBB3	PURA	PPP3CA	STS	SZT2	NAT8L	ARPC4	AHCY	RFC2	PIK3CA	TBL2	TMCO1	TBL1X	PUS7	LHCGR	GTF2I	ATP10A	GABRB2	LMAN2L	TAOK1	TFE3	CHRNA2	PARS2	HERC2	PRKD1	ZMYM2	CHD5	CDKN2C	KCNA2	CDH11	STX1A	CSNK2A1	AUTS2	CRBN	DNAJC30	NPAP1	NSUN2	TBX2	ZNF292	GATA4	CDC42BPB	PCNT	DCDC2	BCR	SRCAP	COQ5	PTCHD1	KAT8	HIRA	NBEA	PLAG1	H4C5	SNORD116-1	MT-CO1	CACNA1C	SETD5	UPF3B	DALRD3	SUCLG1	SBDS	SPG7	MADD	SMPD1	ARVCF	FOCAD	SMC3	SECISBP2	HDAC4	NBN	SLC7A6OS	BUD23	SETBP1	PSMB1	EPCAM	RPS20	WWOX	USP7	PIEZO2	KMT2B	HNRNPH2	JRK	KCNN2	KCNB1	TPH2	SCN2A	CDKN1C	PPP1R12A	TGFBR2	GRIK2	PMS2	CYP27A1	TANC2	NR2F1	DHTKD1	DMPK	KANSL1	MT-CO2	GRIN2D	ANKRD11	NIPBL	OPHN1	NKX2-1	DNAJC21	DYNC1I2	GTF2IRD2	LIMK1	ANKRD17	IDS	MLH3	GALC	TMEM270	FMR1	GABBR2	CYFIP2	JMJD1C	UBA5	NUS1	SLC1A2	ANAPC1	MT-CO3	DNAJC6	SOBP	ADNP	GLUD1	MT-TW	UFD1	WBP11	ARID2	MT-ND1
HP_IRRITABILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRRITABILITY	AMPD2	PMS1	PHGDH	TREM2	ZIC2	ABCC6	TYROBP	NACC1	CYP27B1	STIL	SAMHD1	ITPA	TREX1	PLCH1	NSDHL	ANLN	ZNRF3	HTT	IL10	PRKAR1A	TGIF1	PLPBP	PRF1	TERT	AVPR2	RNASEH2C	ALDH7A1	FOXG1	TLR4	NODAL	RNU7-1	SLC25A20	ADAR	DPYD	PTCH1	CPS1	TBC1D8B	ARG1	IFIH1	PSEN1	TDGF1	SIX3	VCP	AIFM1	STAT4	STX16	DNMT1	MSH2	ST3GAL3	CLN8	NPHS2	FAN1	PPT1	TP53	ARHGDIA	SLC2A1	PTPRO	OSTM1	SLC39A4	PTH	DLL1	LSM11	WT1	SLC25A1	FOXH1	PCBD1	EPCAM	KRAS	GAS1	CNP	FGF8	HSPG2	ABCC8	OTC	HIBCH	VPS13A	CRB2	SHH	RNASEH2B	ERAP1	NUP37	ALPL	NRCAM	ASS1	MYO1E	GCSH	GRN	EMP2	SLC25A19	NDP	GAPVD1	MLH1	SLC19A3	MAGI2	NDUFAF4	MAPT	INF2	APOL1	GALC	ANKFY1	IFNGR1	NUP205	GLRX5	FBP1	GNAS	EHMT1	TH	MECP2	NPHS1	DDC	SLC1A4	PIK3CA	PAX2	SLC25A13	SLC46A1	UBA5	HLA-DQB1	DISP1	HLCS	NFIX	MED12	ACTN4	SQSTM1	MT-ATP6	CLP1	TRPC6	AVP	CDON	AQP2	QDPR	GLI2	GRIA4	FIG4	ASL	MOCS2	IL12A-AS1	ENPP1	FOXRED1	DARS1	VPS50	SDHB	ASAH1	RNF13	FGFR1	SEPSECS	SPTBN1	GLDC	NAXE	ST3GAL5	SMARCB1	NAA20	RNASEH2A	PRNP	VPS53	ASPA	PERCC1	HLA-B	SLC39A14	TSEN15	STAG2	C4A	PANK2	COL4A3	TRMT5	IL12A	NUP93	IL23R	PLCE1	IBA57	FOCAD	MEFV	COQ8B	COG4	STUB1	ASH1L	MSH6	PSAP	NHLRC2	TMEM106B	ATP5F1A	RPS20	PTS	CTNNB1	HBB	PYCR2	SLC6A3	TK2	TGFBR2	NDUFS1	CAMK2B	YIF1B	PMS2	SLC16A2	NUP85	JPH3	CCR1	SDHAF1	TMEM237	TCN2	SDHA	NAA10	TTI2	GCH1	BMPR1A	NUP107	SLC2A3	HTRA1	SEMA4A	CDKN2A	CACNA1A	SMC1A	MLH3	KLRC4	EXOC8	CD2AP	CARS1	C9orf72	EXOSC8	FMR1	SMPD1	SDHD	PRRT2	NDUFA6	TSPOAP1	DCX	GYS2	NUP160	CYP2R1	UBAC2	PYGL	MED23	SUCLA2	NUP133	ALG9	ACOX1	POGZ	SLC1A2	TRMU	FDFT1	NAXD	AMT	VDR	FBP2	ARHGAP24	FAS	DAAM2	CHMP2B
HP_HALLUCINATIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HALLUCINATIONS	ATXN8OS	PMS1	MTHFR	PODXL	ADGRV1	VPS35	SNCA	ARSA	MT-TS2	PSEN2	FUS	SNCB	TBP	ADH1C	HTT	PRNP	CTSH	DEPDC5	ALAD	NDP	ATP13A2	HLA-DQB1	DRD3	GRN	HARS1	HLA-DRB1	MT-TT	PRKN	PSAP	DNAJC13	ZNF365	ABCA7	TARDBP	UPF3B	HTRA2	GBA1	APP	SQSTM1	NR4A2	EPM2A	ARSG	MSH2	MYO7A	HTRA1	CLRN1	ESPN	FAN1	CPOX	PPT1	PUS3	ECM1	CISD2	BCKDHB	GIGYF2	RTN4R	MSH6	GLUD2	MED12	FBXO7	ALDH5A1	EPCAM	RPS20	COMT	KRAS	BCS1L	LRRK2	PPOX	DCAF17	PINK1	EIF4G1	VPS13C	SNCAIP	CIB2	SYNJ1	CLTRN	ALDH4A1	HCRT	VCP	CLN5	BPTF	APOL4	DNAJC6	MAPT	MMACHC	ZDHHC9	TGFBR2	WFS1	HMBS	P2RY11	BCKDHA	WHRN	PCDH15	MOG	CDH23	SORL1	APOL2	PMS2	CYP27A1	DAOA	MLH1	JPH3	TBK1	USH1C	PSMD12	FIG4	LGI1	SON	TOMM40	CSF1R	CACNA1A	DNM1L	DBT	BMPR1A	SLC2A3	CLN6	OPA1	SEMA4A	C9orf72	CEP78	MLH3	UCHL1	NPRL3	PIK3CA	DNMT1	USH2A	NPRL2	CLN3	DNAJC5	SLC25A13	CHI3L1	TREM2	ATXN2	TTC19	NHLRC1	SPART	PARK7	CEP85L	HTR2A	MAN2B1	USH1G	CHCHD10	RELN	TNFSF4	PRDM8	PDZD7	CDH2	PSEN1	TRRAP	SYN2	SLC6A19
HP_SELF_MUTILATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SELF_MUTILATION	CREBBP	MGAT2	SATB2	EP300	CNTNAP2	DHCR7	NTRK1	DPYD	BCOR	NAA10	HERC2	H4C5	ATG7	C12orf57	TREX1	AUH	CAMK2G	NAT8L	RNU7-1	TMEM231	TMCO1	MADD	OPHN1	THOC2	INPP5E	ADSL	CHD7	HDC	NDE1	WDR62	SMG8	ALG13	SLC6A8	GATAD2B	SYT1	MYT1L	SLITRK1	GRM7	CLTCL1	LARP7	RAI1	VPS13A	SLC6A17	GRIA3	TRIO	CTNNB1
HP_LOW_FRUSTRATION_TOLERANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_FRUSTRATION_TOLERANCE	KDM5C	GNB2	SMARCA2	VPS35	OPHN1	MAOA	PPP2R5D	LRRK2	CNTNAP2	PUF60	EIF4G1	GBA1	DNAJC13	SNCA	KMT2A	MED12	GATAD2B	GIGYF2
HP_DIMINISHED_MOTIVATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIMINISHED_MOTIVATION	DISP1	PODXL	VPS35	FGFR1	ZIC2	BMP6	PSEN1	STIL	FUS	TREX1	PLCH1	HTT	SMARCB1	SNCA	MAPT	PRNP	TGIF1	SPG21	DLL1	TSFM	ALAD	TBK1	PRKAR1B	SHH	GAS1	NODAL	ATP13A2	GLI2	CDON	STAG2	GRN	EHMT1	HFE	PTCH1	PRKN	PANK2	DNAJC13	TARDBP	HTRA2	TDGF1	SIX3	VCP	SQSTM1	FGF8	DNMT1	HMGCL	TMEM240	ATXN10	GIGYF2	GM2A	TMEM106B	FOXH1	SPAST	FMR1	NOTCH3	LRRK2	PINK1	EIF4G1	VPS13C	PDGFB	SYNJ1	COQ2	VPS13A	CP	CHMP2B	TREM2	GFAP	JPH3	ATXN1	DCTN1	SLC2A3	HTRA1	CACNA1A	SMC1A	C9orf72	UCHL1	HLA-DQB1	PARK7	DCX	GBA1	ACAT1	CHCHD10	DNAJC6	PLP1
HP_DELUSIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELUSIONS	MTHFR	PSAP	ESS2	ARSA	DGCR2	HMBS	APOL2	SNCB	ATRX	DAOA	HTT	JPH3	USP8	PRNP	IMPA1	CSF1R	TBX1	TBP	GBA1	DRD3	SLC2A3	TIMM8A	EIF2B1	SNCA	C9orf72	CYP27A1	PPP2R2B	EIF2B4	TP53	EIF2B2	SLC25A13	CHI3L1	HLA-DQB1	PLA2G6	HTRA1	FMO3	DGCR8	BRAF	PRDM8	HTR2A	CPOX	EIF2B3	EIF2B5	ECM1	NR3C1	RTN4R	MAN2B1	CDH23	DGCR6	COMT	USP48	PPOX	SYN2	VPS13A	APOL4
HP_INAPPROPRIATE_LAUGHTER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INAPPROPRIATE_LAUGHTER	UBE3A	KANSL1	WDR4	MBD5	CDKL5	MAPT	GRIK2	SLC9A6	GLI3	ADSL	GATAD2B	NTNG2	GABBR2	ATP10A	NOVA2	SNRPN	NTNG1	SMC1A	DYRK1A	PIGS	OCA2	HSD17B10	CSF1R	GRIN1	ATRX	SLC6A17	TBC1D2B	MECP2	PGAP1	PSEN1	PDE2A
HP_PAROXYSMAL_BURSTS_OF_LAUGHTER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAROXYSMAL_BURSTS_OF_LAUGHTER	WDR4	MBD5	UBE3A	HSD17B10	GRIK2	ATRX	GLI3	SNRPN	NTNG2
HP_PERSONALITY_CHANGES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERSONALITY_CHANGES	ATXN8OS	MT-ND4	MAPT	MMACHC	TREM2	MT-ND5	TYROBP	CHMP2B	GRN	LMNB1	JPH3	PNPLA6	TBP	ADH1C	PLA2G6	PRNP	MT-CO2	C9orf72	TBK1	MT-CO1	TIMM8A	EIF2B1	MT-TT	MT-TF	GBA1	DCTN1	PSEN1	VCP	EIF2B4	EIF2B2	NR4A2	MT-ND6	ATXN2	HLA-DQB1	MT-TH	RNF216	MT-TL1	TMEM106B	EIF2B3	EIF2B5	SQSTM1	AARS1	ATP7B	APOE	MT-TS2	GLUD2	MT-CO3	HTT	NOTCH3	VPS13A	MT-TW	TIA1	SNCAIP	MT-TQ	MT-ND1
HP_HYPERACTIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERACTIVITY	PMS1	DEPDC5	PDZD8	ZIC2	SEMA3E	ODC1	VPS37D	AASS	DPP6	PHF21A	APC2	NSD2	CUL4B	EEF1A2	PLCH1	NSDHL	HOXA2	DEAF1	DNM1	PRNP	TGIF1	GNE	GABRA5	CACNA2D1	EP300	CDK19	TMEM67	SMARCB1	NODAL	TUBG1	SETD2	SIX3	ATP1A2	DHCR7	NAGLU	CC2D1A	TBC1D2B	MSH2	GP1BB	LGI3	ADH5	MED13	SMARCA4	TET3	LIG4	EIF2AK1	NTRK2	WAC	DNAJC12	MED12	RREB1	DYRK1A	NKAP	DLL1	SCN2A	ALDH5A1	SMC1A	ACTL6B	TAF1	HNRNPR	GAS1	PHIP	ARID1B	NLGN1	SCN1A	HSPG2	AP2M1	STIL	SHH	MED12L	SH3KBP1	CREBBP	ASPM	ZDHHC9	MLXIPL	SATB2	FOXH1	GRIN2A	CACNA1A	FGF8	SLC6A8	GAMT	NDP	NIPA1	PSMD12	RUSC2	GABRB3	YWHAG	ADGRL1	AP1G1	YY1	AGO2	CABP4	CNKSR2	KIF11	TBX1	STAG2	PIGQ	TCF20	CLTC	DRD4	IGF1	FKBP6	DMXL2	FLII	UBE3A	KMT2A	KDM5C	ARID1A	CHKA	BAP1	TRIO	DYM	NTRK1	FOXP1	HDC	SOX5	RAI1	ATR	GNB1	CDON	FRMPD4	GATAD2B	SGSH	GLI2	GRIA4	CLIP2	FMR1	EBP	CDH2	NOP56	KANSL1	MAP1B	SPEN	PNP	GABRA2	FLG	SMARCD1	DPF2	SIK1	HTT	IL1RAPL1	SPRED1	RAD21	PRKAR1B	PCGF2	FGFR1	KDM4B	KRAS	TMEM147	CIC	SNORD115-1	CSGALNACT1	RERE	SPTBN1	CAMTA1	DLG3	ALKBH8	CHD2	PLA2G6	SLC6A1	PWRN1	CACNA1H	CHD7	ADNP	FGFR3	SCAPER	SCN3A	NBN	DRD5	HERC2	GRM7	HDAC4	PWAR1	POGZ	ABCD1	ATP6V0A1	TSHR	INPP5E	NSD1	MAPK10	KCNT1	DDB1	THRB	SLC6A19	NIPA2	CDKL5	MSH6	PAH	SLITRK1	UQCC2	PANK2	NFIA	NAA15	ATRX	TNPO2	AARS1	TRAK1	TUBA1A	HCN1	SIM1	COMT	BAZ1B	RSRC1	ELN	SETBP1	HAL	CDK8	POLA1	ZMIZ1	SEC24C	MICU1	RIC1	PCDH19	FLI1	CASK	MAGEL2	CHRNA7	KCNC2	EIF4H	SHANK3	SLC2A1	CORO1A	OCA2	TTI2	KIF14	HUWE1	CRH	BMPR1A	MCTP2	SOX6	ATP6V1A	SEMA4A	SLC13A5	TRAPPC14	BSCL2	METTL5	SMARCE1	SOX11	TLK2	CARS1	OCRL	MBD5	IGF2	SMARCA2	GNAQ	PIGP	PRR12	ARV1	AUTS2	CELF2	AFF2	TRAPPC9	FLCN	FZR1	SYNJ1	BCORL1	SNRPN	SYNGAP1	KDM3B	GALT	DISP1	AMT	TSC2	IKBKG	BRD4	ADAT3	PPM1D	SH2B1	C12orf4	TUBB2B	KAT5	RAB39B	CLCN3	TSC1	SCN8A	TSHB	NF1	MKRN3	HIVEP2	HMGA2	NECAP1	TNIK	CHRNA4	KMT5B	CACNA1B	FANCD2	FGD1	TIMM8A	TNRC6B	PTCH1	FGF13	METTL27	ATP1A3	ARG1	ANK3	TDGF1	DPH1	AP3B2	HDAC8	MTOR	IQSEC1	DHDDS	ADSL	ALG14	FAN1	WDR62	GTF2IRD1	SLC25A22	PAK3	GNS	SHMT2	GABRG2	SHOC2	PRKCG	FGF12	GNAO1	IFNG	FANCL	DDX3X	PRODH	PIDD1	MAPK1	VPS13A	TIAM1	CLN5	YME1L1	CHRNB2	UBE4A	GNB5	BCL7B	STEEP1	NEXMIF	TRIM8	PPP1R21	GCSH	TRIP12	CNTNAP2	SLC38A3	GRIA1	NCF1	PDGFRB	TKT	MLH1	UBTF	CRKL	FBXO11	IQSEC2	PRKAR1A	TUBB3	PPP3CA	ARX	STS	SZT2	MECP2	ACY1	RAC1	ARPC4	RFC2	SLC1A4	PIK3CA	TBL2	TMCO1	TBL1X	SMARCC2	SLC25A13	PUS7	OPHN1	LHCGR	NFIX	GTF2I	ATP10A	GABRB2	CUX2	LMAN2L	TAOK1	CCBE1	CHRNA2	PARS2	PRKD1	ZMYM2	GLRA2	MID2	CHD5	DPYD	KCNA2	HGSNAT	KDM6B	CDH11	STX1A	CSNK2A1	PNKP	CRBN	KCNA1	DNAJC30	NPAP1	NSUN2	TBX2	ZNF292	GATA4	SCN1B	CDC42BPB	GLDC	PCNT	DCDC2	BCR	SRCAP	PDCD6IP	PTCHD1	KAT8	HIRA	NBEA	GABRA1	PLAG1	H4C5	SNORD116-1	CACNA1C	SETD5	UPF3B	TAF6	DALRD3	TMEM222	PPP2R1A	SOX4	SPG7	MANBA	H3-3A	MADD	SMPD1	ARVCF	CLCN4	PUF60	BCAP31	SMC3	ASH1L	SLC7A6OS	KIF15	BUD23	PSMB1	SRPX2	EPCAM	DNAJC21	RPS20	WWOX	PDE4D	USP7	SHROOM4	PIEZO2	KMT2B	HNRNPH2	JRK	KCNN2	KCNB1	TPH2	ARID2	CDKN1C	LNPK	PPP1R12A	TGFBR2	GRIK2	PMS2	CYP27A1	TANC2	NR2F1	DHTKD1	DMPK	GRIN2D	ANKRD11	NIPBL	NKX2-1	DYNC1I2	GTF2IRD2	LIMK1	ANKRD17	MED13L	MLH3	GRIN1	GALC	TMEM270	KCNK9	GABBR2	CYFIP2	NTNG2	NEUROD2	SIN3A	JMJD1C	UBA5	NUS1	SPR	SLC1A2	ANAPC1	CUL3	ZSWIM6	GLUD1	UFD1	ATP1A1	WBP11
HP_LACK_OF_INSIGHT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACK_OF_INSIGHT	PSEN1	TREM2	C9orf72	TBP	TMEM106B	MAPT	SQSTM1	CHMP2B	VCP	GRN	TYROBP
HP_ABNORMAL_NONVERBAL_COMMUNICATIVE_BEHAVIOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NONVERBAL_COMMUNICATIVE_BEHAVIOR	CDKL5	NDUFB10	NDUFS4	NDUFAF2	NLGN4X	SPATA5	SPTBN1	RARS1	NDUFS2	IREB2	GLS	KCNT1	DLK1	NDUFAF8	NDUFAF5	NDUFV1	KMT5B	GALNT2	FOXG1	NLGN3	DOCK7	ALG13	MT-ND1	MT-ND3	TIMMDC1	MBD5	ADAM22	ATP1A2	COX10	TRIM8	DOLK	FOXRED1	AP3B2	AGTPBP1	TMEM126B	ARFGEF2	ST3GAL3	ADSL	PUF60	ALG2	NDE1	MEG3	GNB5	TBC1D23	CACNA2D2	SNRPN	SYT1	SLC25A1	NHLRC2	MFF	NUBPL	NDUFAF1	GABRA2	MECP2	NTRK2	GRIA3	NEXMIF	NDUFS1	ADCY5	GUF1	MT-ND2	ARX	MEF2C	GFM2	CUX2	POLA1	NDUFC2	NDUFS3	GPHN	CNTNAP2	MICOS13	CAMK2B	GABBR2	NDUFS7	NTNG1	NDUFAF4	GRIN2B	NDUFA13	OPHN1	RAB11B	SMC1A	MDH2	NDUFA11	NDUFA6	NDUFA1	GFM1	NEUROD2	FMR1	NDUFS6	NDUFAF3	UBA5	PIGP	CHD8	NDUFV2	NALCN	NDUFS8	RTL1	DEAF1	NDUFB9	FRMPD4	NDUFB11	SLC25A12	TWNK	FLCN	UGP2	CLP1	GRIN1	SPEN	TARS2	SHANK3	NDUFB3
HP_ABNORMAL_PERIPHERAL_NERVOUS_SYSTEM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PERIPHERAL_NERVOUS_SYSTEM_MORPHOLOGY	AMPD2	CHCHD10	MT-ND4	TFG	SDHB	FKRP	SEMA3E	SPG7	VCP	NEMF	CHRND	MTMR14	SDHD	HSPB1	ASCL1	POMT1	SIGMAR1	LRP12	NEFH	VHL	MFN2	OTX2	GBF1	CHRNA1	C9orf72	MEOX1	SPG11	MT-ND1	CYP2U1	OPA1	NEFL	TPM2	DNMT3A	LMOD3	RET	CDKN1B	DGUOK	TCIRG1	TRPV4	ERBB2	SIX1	OSMR	SPTLC1	DNMT1	AAAS	SH3TC2	PEX3	ASAH1	MORC2	SORD	SLC25A46	KLC2	LZTR1	BSCL2	ATP7B	DHH	CFL2	PMP22	MAX	UBA1	SLC25A21	POLG	HOXB1	BDNF	TWNK	COL6A2	HK1	PRPS1	TBCE	MUSK	REEP1	EXOSC9	HSD17B4	PEX5	LRP4	GLE1	USP8	GALC	ERCC8	SPEG	B2M	SOD1	WARS1	RYR1	ATAD3A	TRIM2	GDAP1	HNRNPA2B1	MT-ND6	PEX6	CHRNE	AIFM1	CCND1	MT-ATP6	PRX	COL12A1	PIK3R5	KLHL41	NTRK1	ANXA11	KIF1B	CHD7	CEP126	TDP1	ABHD12	SMARCB1	MOCS1	SUPT16H	EXT2	USP48	SDHA	ATRX	EYA1	COA7	SPRED1	IGHMBP2	SOX10	SMN1	MT-ND5	DHX16	SLC25A4	TNFSF11	PIGB	SLC52A3	NGLY1	MYH7	SRPX2	AGTPBP1	ARSA	ATP1A2	TOR1A	COASY	TBK1	COX20	CCM2	PNPT1	RRM2B	SOST	ALS2	SLC25A1	SLC25A11	EPAS1	GMPPB	MYO1H	PLP1	COLQ	ATXN10	MTMR2	IDUA	HSPB8	ATXN1	COL4A1	PLXND1	FGF14	SDHC	TNFRSF11A	MT-TE	CCT5	SQSTM1	ASXL1	BIN1	DARS2	ALDH18A1	TK2	BTNL2	SLC52A2	MPZ	PEX10	MICU1	PIEZO2	SLC19A3	DAXX	SLC25A19	SURF1	PEX11B	SNX10	ADA2	TMEM53	ERCC6	MT-TF	ANKH	MAT1A	RFC1	PRICKLE1	TUBB3	HINT1	SYT2	PTDSS1	MCM3AP	PEX12	ASCC1	SYNE1	GARS1	NGF	FLVCR1	AMER1	GBE1	COL6A1	MBD4	MED25	MATR3	FA2H	NF1	GRN	KIF5A	MEGF10	C19orf12	MYMK	PEX13	CPLANE1	XRCC4	EGR2	GNAQ	SETX	SLC12A6	CNTNAP1	AGRN	TUBB6	PSAP	SLC18A3	TGFB1	UBTF	MT-TH	PLEKHM1	NEB	FBXO38	KARS1	SHMT2	PI4KA	RAB7A	OSTM1	UQCRC1	IFNG	GCDH	SLC5A7	SPTLC2	ATP1A3	BMS1	PDGFB	RETREG1	EXOSC8	YME1L1	CRPPA	NOTCH2NLC	SBF1	ABCD1	DNM2	NAGA	WFS1	SAMD9L	KRIT1	HACE1	PRRX1	LITAF	PDK3	CHKB	TTC19	ELOVL4	DNAJB6	TTN	CACNA1A	KIF1A	GDF3	BICRA	MOCS2	CDKN2C	GSN	GJA1	KCNJ11	PEX19	LRP5	SCO2	SIX5	CHMP2B	ALG2	DMPK	PEX2	NDRG1	TERT	ZFYVE26	VPS13D	LMNA	MT-CO1	ABCC8	ADCY6	VRK1	GNB4	PNKP	TARDBP	ABCA1	CHRNB1	DCTN1	YARS1	BRAF	NR3C1	RAI1	HNRNPA1	IFRD1	TSC1	GNE	GAN	SNAP25	ACTA1	MT-TK	GCK	DPAGT1	DCAF8	NOD2	FIG4	TRAPPC11	GJB1	LAMB2	KIF1C	MT-TW	PRPH	HYCC1	PRNP	HPDL	ATP11A	TTR	PEX16	MT-ND3	PDE11A	TREM2	TYROBP	NF2	SUCLA2	ADPRS	ELP1	LARGE1	GNAS	MT-CO3	MGME1	UBQLN2	ATL1	SELENON	SMARCE1	PNPLA6	MYL2	FKTN	VPS41	PDX1	PLOD1	NARS2	MAPT	DNA2	COQ7	PLEKHG5	MT-TL1	FH	FBN1	TBL1XR1	SMO	PEX1	MEN1	FLNC	ERCC4	GCGR	CLCN7	POMT2	PHOX2B	SLC29A3	UBA2	KBTBD13	GFM2	PLEC	FLRT1	GFPT1	EDN3	LMNB1	ATP13A2	GDF6	FGD4	FRG1	BAP1	XK	ACOX1	HRAS	POLG2	PABPN1	ZFHX4	DEGS1	JPH1	NEU1	CA2	CAPN3	ANO5	NALCN	MYPN	CDH23	MT-TS2	LRSAM1	ZC4H2	CTDP1	VWA1	GDNF	MT-TQ	LAMA2	KRAS	MYH14	COL6A3	GBA2	ATL3	KCNJ10	SPTBN1	ADSS1	DLL4	COL13A1	SPTBN4	MPV17	LYST	TMEM127	GNB2	AARS1	MDH2	TYMP	KLHL9	PDCD10	ALG12	SERPING1	CRYAB	TBC1D20	ITGB4	CHAT	SACS	LIG3	REV3L	FXN	SMN2	MTRFR	PTRH2	MT-TV	INF2	KIT	PLEKHG4	PSEN1	ARHGEF10	SGCD	MTM1	HMBS	APC	TPM3	LRP1	XRCC2	APTX	TRAF7	MARS1	SALL4	NFASC	HARS1	PEX14	NFU1	EXT1	CDKN1A	CAPN1	RNF43	ARMC5	ELOVL5	PUF60	ZNHIT3	PRKAR1A	COX6A1	PEX26	COG8	PLA2G6	COL25A1	PLD3	DLST	TXN2	KLHL40	FUS	GJC2	TPI1	MYMX	RNF170	FBLN5	TRIP4	PMP2	SDHAF2	MME	TP53	ATP7A	MLH1	TRPM7	SUMF1	BAG3	SMCHD1	HLA-DRB1	DKK1	MFF	AK9	CDKN2B	HEXB	VPS13A	KY	LRPPRC	SBF2	MMACHC	SPG21	VAMP1	IBA57	TBCD	AKT1	DES	COCH	YY1	PRRT2	DOK7	TFAP2A	MYO9A	LTBP3	MAFA	CTSD	DNAJC3	MT-ND2	ADGRG1	STAT3	SLC39A14	DYNC1H1	PIK3CA	TRIM32	RNF220	EXOSC3	FGF3	ATXN3	MTTP	TMEM106B	SCN4A	DDHD1	AFG3L2	SNAP29	WNK1	CYP27A1	MYF6	SUFU	CADM3	MT-CO2	SLC25A15	PLXNA1	TSC2	WDR48	RAPSN	ERCC3	CRLF1	INS	KCNK9	EMILIN1	SCN9A	ALG14	SEPTIN9	GMPPA	SCN1A
HP_SENSORY_NEUROPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SENSORY_NEUROPATHY	DNASE1L3	DNMT1	MT-ND4	FXN	POLG	CTSD	MT-ND5	IARS2	SLC12A6	DHX16	GJC2	MT-ATP6	OPA1	MFN2	TTPA	DHH	ERLIN2	ALS2	CACNA1A	MORC2	ALAD	SPG11	COX20	IBA57	PNPT1	LMNA	XRCC4	MT-CO1	TIMM8A	PEX6	ATL3	DGUOK	SYNE1	AIFM1	TWNK	NEFH	SPTLC1	TGFB1	MT-TH	MT-TL1	KLC2	SHMT2	RAB7A	RAI1	DKK1	HNRNPA1	CLCN6	GAN	SPTLC2	VPS13A	PLEKHG4	FGF14	CCT5	HEXB	CTLA4	COMP	TOP3A	CTDP1	RNF170	AMACR	TNXB	GJB1	VCP	PRTN3	DST	ATP13A2	PIEZO2	CRAT	HINT1	MT-CO2	NAGA	SAMD9L	HLA-DPB1	ACOX1	TRPV4	MT-TF	ARL6IP1	HNRNPA2B1	TFG	RNU7-1	NF2	HADHB	CAPN1	MT-ND6	PRICKLE1	LYST	HK1	ATL1	PEX1	HLA-DPA1	HADHA	TDP1	TK2	PLP1	MT-TS2	AR	MT-CO3	PRPS1	PTPN22	MT-TW	GSN	MT-TQ	PLD3	ATXN8OS	MT-ND1
HP_PERIPHERAL_AXONAL_DEGENERATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_AXONAL_DEGENERATION	AMPD2	IGHMBP2	SPG11	MT-ND4	FXN	PNPLA6	SPG7	NEMF	MTMR14	HSPB1	GJC2	KIF1A	MFN2	VRK1	KIF5A	SPTLC2	GBF1	C19orf12	RNF170	FBLN5	CYP2U1	VPS41	OPA1	POLG	XRCC4	MT-ATP6	PDX1	ERCC6	PLOD1	SETX	SLC12A6	TRIP4	COASY	DGUOK	PEX10	SYNE1	TRPV4	AIFM1	ERBB2	MME	TWNK	RRM2B	MPZ	NEFH	AGTPBP1	SPTLC1	UBTF	AAAS	MT-TH	MT-TL1	SLC25A46	MORC2	BAG3	KLC2	KARS1	SHMT2	RAB7A	ATP1A3	SLC25A21	PRPS1	HEXB	RETREG1	VPS13A	EXOSC8	TBCE	CTDP1	FLRT1	HK1	REEP1	EXOSC9	ATP13A2	GLE1	NGLY1	ABCD1	DNM2	IBA57	GDAP1	NAGA	WFS1	SH3TC2	XK	NEFL	ERCC8	SAMD9L	TBCD	PSAP	ACOX1	WARS1	ATAD3A	TRIM2	HNRNPA2B1	TFG	ZFYVE26	POLG2	FLVCR1	JPH1	MT-ND6	ABCA1	VCP	PIK3R5	TTC19	ELOVL4	ATL1	TDP1	MT-TS2	MOCS1	LRSAM1	MOCS2	BIN1	GJB1	VWA1	TXN2	MT-TQ	LAMA2	COA7	KRAS	GBA2	CTSD	MT-ND5	ATL3	DHX16	SLC25A4	KCNJ11	KCNJ10	PIGB	STAT3	DYNC1H1	SPTBN4	MPV17	NDRG1	GNB2	AARS1	COX20	RYR1	TYMP	RNF220	LMNA	KLHL9	MT-CO1	ABCC8	GNB4	EXOSC3	ATXN3	SERPING1	MTRFR	VPS13D	YARS1	LIG3	DDHD1	HNRNPA1	IFRD1	GAN	INF2	HSPB8	PLEKHG4	FGF14	MT-TE	GCK	AFG3L2	CCT5	DCAF8	DARS2	FIG4	TRAPPC11	ALDH18A1	MICU1	HMBS	CYP27A1	APTX	PIEZO2	MYF6	HINT1	MARS1	MT-CO2	SLC25A19	PLXNA1	SURF1	WDR48	ATP11A	HARS1	TTR	MT-TF	CAPN1	INS	KCNK9	RFC1	PRICKLE1	ELOVL5	BRAF	TUBB3	TK2	TYROBP	MCM3AP	SEPTIN9	ASCC1	ADPRS	KIF1B	MT-CO3	GMPPA	MT-TW	COG8	UBQLN2	PLA2G6	PLD3	GBE1	MT-ND1
HP_ABNORMAL_THORAX_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_THORAX_MORPHOLOGY	PROKR2	FGF8	CHRM3	GABRA3	ARSB	SEMA3E	ODC1	COL2A1	VPS37D	VCP	CYP27B1	LRP4	BAP1	TMCO1	BMP1	MTMR14	HS2ST1	SDHD	IFT43	FOXE3	ZBTB20	LMNA	GPC4	LBR	KYNU	FBN1	GNE	MEOX1	PIGY	NEFL	RNU4ATAC	RTL1	ADAMTS3	TPM2	PTPN11	SETD2	TGFB2	GNPTAB	LMOD3	SGCG	FZD2	CDT1	MEGF8	TRPV4	SEC23B	NSD2	SLC26A2	SFRP4	NAGLU	ZMPSTE24	SEC24D	GP1BB	MAT2A	ADA2	FHL1	IL1RN	DYNC2H1	TAPT1	LONP1	RPS28	MESP2	ZEB2	ANKRD11	TGFBR2	XYLT2	RPS6KA3	B4GALT7	TNFRSF11A	IARS2	CCDC8	SEPTIN9	DYRK1A	COL10A1	OBSL1	CFL2	SKI	RBM10	HNRNPR	H19	VPS33A	KCNJ2	GYG1	DSE	FGFR3	COL1A2	SGCD	JAG2	PTH1R	MUSK	RPS29	CREBBP	CDC6	LZTR1	NPR3	SP7	DDRGK1	NADSYN1	DVL1	HSD17B4	RPL35A	CFAP410	PIEZO1	ABCC6	AP1G1	TGFBR1	PTPN2	RIN2	SCUBE3	MYL2	GATA6	FKBP6	KIF7	DYM	ATAD3A	RUNX2	KMT2A	HSPG2	KDM5C	IGBP1	HEY2	CSPP1	COG1	COL12A1	TRIO	KLHL41	PIK3CA	CHD7	SOX5	ACP5	NEK9	IRF6	GNB1	SGSH	COL11A2	IL2RA	FMR1	AEBP1	EXT2	CDH2	BICD2	TBCE	EFL1	ARF1	PTEN	DHODH	MAP2K2	MAN2B1	PPP1CB	CRPPA	SRY	SPRED1	RAD21	PCGF2	FLNB	LETM1	IKBKG	DLL3	TNFSF11	DLG3	MAF	MYH7	FOXF1	SRPX2	CUL4B	ERMARD	SPRTN	GABRD	ADA	PTDSS1	KCTD1	RPL26	IGF1R	ABCC9	HNRNPK	GSC	COL3A1	FUCA1	INTU	SRP54	FARSB	UBE3B	SOST	CBL	NOTCH3	FLI1	SLC9A6	SLC25A1	FLNA	WNT5A	KIAA0586	CDH11	B3GALT6	TGDS	GPC3	TTC21B	PYCR1	WNT3	LRP5	SPEG	KIF22	ANTXR1	SELENON	COL5A1	WDR35	VPS13B	CTSK	TRMT10A	VAC14	DSTYK	BAZ1B	BIN1	MEG3	RPS15A	PRKACA	MBTPS2	CCDC22	ACAN	IFT122	ZMIZ1	SEC24C	NOTCH2	MOGS	MYH2	SON	EIF4H	DNM1L	GLB1	CHRND	IFT140	TMEM53	NXN	TCTN3	ITGA7	GJA8	AGRN	PIGO	PAM16	BRAF	TWNK	THSD4	FAM149B1	SRCAP	PRR12	IFT80	CASR	TRIP11	SOX9	FGFR2	HNRNPH1	DYNC2I1	SYT2	GLI2	SLC35D1	PTF1A	BCORL1	COL6A1	FKTN	RAF1	AMER1	ATP7A	PRKACB	BRD4	CBS	HBA1	MGAT2	TMEM43	SHOC2	BGN	NF1	NAA10	MEGF10	C19orf12	MAP3K7	CSF1R	IFT52	GPKOW	EMD	CTBP1	GATA1	RRAS2	METTL27	DVL3	HYOU1	MBD5	XYLT1	SGCA	TBX1	DYNLT2B	ACTA2	ORC6	WNT4	INPPL1	FGFRL1	IPO8	PEX5	NEB	CCDC47	SIX3	MYOD1	G6PC3	PLEKHM1	TMEM231	PI4KA	FBLN5	WDR81	NARS1	MRAS	PAX1	CHD4	CPLX1	PEX1	GDF6	SLC5A7	KRAS	LEMD2	SNX14	GTF2H5	JAG1	WNT7A	LHX3	VPS37A	GMPPB	ZFPM2	PAICS	TELO2	VANGL1	BCL7B	SMAD3	IFT81	MATN3	SEC23A	PPP1R21	FOXH1	NCF1	TRIP4	FAM20C	MYH3	MYSM1	PPP1R15B	BCOR	KDELR2	TRPV6	DLK1	FAM111A	ALX4	SMAD4	ACTB	MYBPC1	WDR19	PPIB	RECQL4	ERF	TRPS1	PORCN	TGFB3	POMT2	SMAD2	SOS1	IFT172	SLC34A1	TNPO3	PAX7	PIK3R2	SUFU	BMPER	PIGG	DONSON	MLXIPL	COL1A1	MARS2	CRTAP	PIGN	MSTO1	GMNN	GDF3	BICRA	AR	RPL18	CEP120	PQBP1	HGSNAT	ARSK	ASAH1	RPL31	GLI3	GBA1	ALPL	ROR2	SHH	TBC1D24	ERCC3	SLC10A7	NSUN2	TBX2	SH2B1	GATA4	PLAA	TBX6	ALG2	BMPR1A	COLQ	SLC18A3	HIRA	RPS19	RYR1	FKBP10	DYSF	SALL4	PRKCZ	SETBP1	VRK1	HDAC6	DNMT3A	PPP2R1A	EVC2	CHRNB1	SBDS	NOG	COL11A1	POR	DACT1	CEP152	WASHC5	ARVCF	SGCB	PUF60	ORC1	FGD1	KCNJ8	GLI1	DCHS1	CARS1	BUD23	NFIX	NUP107	NEK1	SNAP25	SMO	ACTA1	PGAP2	PYROXD1	MET	DPAGT1	PRNP	BANF1	MAP2K1	RPS20	SH3PXD2B	RNF113A	MSX2	GJA5	SIX6	KRT5	LAMB2	CHST14	LIFR	TPM3	P4HB	LMBRD2	HINT1	UBE4B	SOX10	EYA1	FERMT1	MESD	TTN	PIGW	OTUD6B	PIGA	NODAL	RPS17	ACTG2	ANK1	IDS	SERPINH1	NPR2	DISP1	AKT1	TBX15	PIGU	CHRNE	DDR2	MAMLD1	SLC2A1	IDUA	JMJD1C	RIPPLY2	TCIRG1	GALNS	SLC34A3	B3GAT3	GAD1	TK2	EFNB1	SALL1	LRIF1	LMX1B	USP18	SMS	SNRPB	WNT1	TBCK	WBP11	RSPO2	GUSB	EXTL3	CHRNG	MECP2	DLL1	ABCD4	GLE1	CUL7	ARSL	HES7	KIAA0753	REST	RIT1	TMTC3	CASZ1	IDH1	LEMD3	PPP3CA	B4GAT1	CANT1	FBXO28	PLOD1	RPS24	FBXL3	HOXD13	ENPP1	ASXL1	UBA1	CTNS	PDHX	ARL3	DHCR7	RPS27	ATP2B1	ATP6V0A2	LGI3	ARFGEF2	LIG4	DMD	MED12	RREB1	CREB3L1	KAT6A	GPX4	NKAP	RRAS	BMP2	SMC1A	TAF1	PIEZO2	CD96	LAMA5	ORC4	ADAMTS10	MED12L	MTX2	ALG12	KBTBD13	DYNC2I2	ZDHHC9	PCYT1A	LOX	PLCB3	ERLIN1	GJA1	TBX3	FRG1	PRDM16	NALCN	COL6A2	C2CD3	AGA	MAN1B1	HDAC4	HRAS	PAX3	PCNT	GTF2E2	PTCH1	APC2	NEU1	POLR3A	CAPN3	PDPN	CDC42	WRN	PRKG2	MME	MMP14	INPP5K	ATR	ANO5	MYPN	CHST11	MTM1	TNFRSF11B	ATP6V1B2	CLIP2	HACD1	SLC37A4	FIG4	TUBB	KANSL1	ZC4H2	VWA1	DPF2	GAS1	CYP2R1	SC5D	TBX5	EBP	CSGALNACT1	CENPJ	SDHB	COL13A1	SLC16A2	DYNC2LI1	SQSTM1	DES	TNNT1	NRAS	GNB2	UPF3B	SPRED2	PACS1	NSD1	MBTPS1	CHAT	SCARF2	P3H1	MAP1B	LTBP1	CHST3	CLCN7	TOE1	B3GLCT	FGFR1	STIL	PIGT	MMP23B	SYNE1	TGIF1	COMT	RMRP	ELN	SF3B4	COMP	FUZ	IGF2	EP300	RAB5IF	IFT57	PHF8	POGLUT1	SNX10	IHH	SIL1	CCN6	HUWE1	LRRK1	NFASC	MFAP5	FREM2	HBA2	EXT1	LFNG	OCRL	POLG	EZH2	PRKG1	DNM2	CILK1	ZIC2	RPS7	CHRNA1	RSPRY1	VDR	SDHC	SMARCAL1	GDAP1	CD247	MAP3K20	ITCH	ITGA3	AFF3	PDGFRB	FN1	EXOC6B	RPS26	POP1	CCBE1	RNU12	FAT4	SPEN	SYNE2	PIGV	KLHL40	UCHL1	SLC12A2	HDAC8	ALDH18A1	ARID1B	MTOR	RTTN	SIK3	SMCHD1	GTF2IRD1	TENT5A	GNS	TCTN2	TMEM94	COL6A3	RPL15	GZF1	SRD5A3	AK9	CDON	MYL11	RPL11	FBN2	MAPK1	PIGQ	KY	SLC2A10	MAPRE2	RBBP8	RPL27	ELMO2	SPECC1L	VAMP1	GTPBP2	UBTF	NGLY1	ANKRD55	AIFM1	LAMA2	PSMB8	MPLKIP	ABCA3	MGP	TDGF1	TBCD	LUZP1	ATG7	RFC2	ABL1	RPS10	LRP2	EFEMP2	TBL2	IL2RB	NEPRO	TUBB3	GTF2I	DOK7	TRAPPC2	STAT4	KCNAB2	TMEM251	TFE3	PIK3C2A	ALDH1A2	NKX3-2	RNF135	NELFA	MYO9A	KDM6B	HHAT	EVC	IL6ST	ADAMTSL2	STX1A	RPL5	SLC17A5	DNAJC30	PTCH2	ALMS1	ADGRG1	CDC42BPB	NEDD4L	GFPT1	RERE	COL5A2	ASPH	NIPBL	RIPK4	MYLK	USF3	GNPTG	ANAPC7	PTPN22	COG4	RBM8A	SOS2	TARS1	TSR2	SOX2	RAB33B	TOR1A	GDF11	SMC3	SCN4A	EIF2AK3	PRIM1	DNAJC21	SF3B2	SMPX	ASH1L	HERC1	NHLRC2	INTS1	MMP2	RASA2	HNRNPH2	IRX5	TWIST1	MTRFR	LGI4	CPLANE1	RAB3GAP2	PLOD2	PYCR2	MYF5	FRAS1	ERCC2	CYP27A1	MYF6	POLR2A	GTF2IRD2	PHEX	LIMK1	CDC45	PGAP3	OPA1	PIGL	SIM1	ANXA11	RAPSN	MMP13	HPGD	ALDH3A2	MYH11	TMEM270	EMILIN1	RET	ESCO2	LTBP2	RPL35	NSDHL	KCNQ1OT1	ALG14	TONSL	MED25	OFD1	PIGS	GORAB	APC	SFTPB	KLLN	SFTPC	CA2	UFD1	BUB1B	ARID2	CYP21A2
HP_ABNORMAL_STERNUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_STERNUM_MORPHOLOGY	PROKR2	EXTL3	CHRM3	CHRNG	MECP2	ARSB	VPS37D	CYP27B1	IFT122	LRP4	MATN3	BMP1	CUL7	HS2ST1	SDHD	FOXE3	ZBTB20	REST	GPC4	LBR	RIT1	FBN1	IPO8	PIGY	ACTA1	TPM2	PTPN11	KRAS	SETD2	TGFB2	GNPTAB	PLOD1	FZD2	MEGF8	ASXL1	SEC23B	CTNS	PDHX	ARL3	SEC24D	ATP2B1	ATP6V0A2	LGI3	MAT2A	FHL1	TGDS	LONP1	LIG4	ZEB2	TGFBR2	XYLT2	RPS6KA3	B4GALT7	TNFRSF11A	MED12	KAT6A	DYRK1A	NKAP	TTC21B	RRAS	CFL2	SKI	BMP2	RBM10	SMC1A	TAF1	IGBP1	PIEZO2	DYM	CD96	LAMA5	VPS33A	HSPG2	DSE	FLNA	CREBBP	TRPV4	DYNC2I2	ZDHHC9	LZTR1	NPR3	MLXIPL	SP7	MTX2	DVL1	HSD17B4	DYNC2I1	LOX	PIEZO1	TBX3	AP1G1	TGFBR1	LMNA	RIN2	NF1	MYL2	FKBP6	AGA	MAN1B1	HDAC4	ATAD3A	HRAS	KIF7	KMT2A	PTCH1	APC2	KDM5C	RTL1	HEY2	NEU1	COL2A1	TRIO	CDC42	PIK3CA	RAF1	PRKG2	SOX5	MME	INPP5K	NALCN	CHST11	GNB1	CLIP2	HACD1	FMR1	EVC2	SLC37A4	FIG4	TUBB	KANSL1	BICD2	PTEN	DPF2	ROR2	DHODH	MAN2B1	PPP1CB	CYP2R1	SRY	SPRED1	DYNC2H1	SOX9	RAD21	TBX5	PCGF2	LETM1	CPLX1	CSGALNACT1	MAF	SRPX2	SDHB	COL13A1	SLC16A2	COL11A2	SPRTN	DYNC2LI1	TNNT1	TRIP4	NRAS	IGF1R	NAA10	HNRNPK	COL3A1	ABCC6	NSD2	ATP7A	UPF3B	SPRED2	MAP2K2	FARSB	PACS1	CBL	NOTCH3	SLC9A6	NSD1	SLC25A1	MBTPS1	CHAT	SMS	WNT5A	SCARF2	CDH11	B3GALT6	GPC3	LTBP1	PYCR1	TOE1	B3GLCT	PIGT	SELENON	COL5A1	MGAT2	SYNE1	TRMT10A	VAC14	BAZ1B	RMRP	ELN	MBTPS2	TNFRSF11B	FLNB	EP300	ZMIZ1	NOTCH2	RAB5IF	SMAD3	IHH	EIF4H	SIL1	XYLT1	HUWE1	IFT140	MFAP5	HBA2	NXN	TCTN3	ITGA7	FGFR3	CBS	GJA8	PIGO	BRAF	THSD4	COL1A2	FAM149B1	PRKG1	PRR12	GUSB	PUF60	MYH3	HNRNPH1	SYT2	TPM3	IFT80	PTF1A	BCORL1	SOS1	AMER1	FKTN	NFIX	RSPRY1	VDR	SDHC	EMD	BRD4	MAP3K20	HBA1	ITCH	WDR19	ACP5	TMEM43	SHOC2	TRIP11	BGN	MEGF10	FN1	EXOC6B	FGD1	MEG3	CSF1R	MYPN	CTBP1	SYNE2	PIGV	MSTO1	RRAS2	METTL27	DVL3	HYOU1	UCHL1	ACTA2	SLC12A2	HDAC8	ALDH18A1	ARID1B	SIK3	FGFRL1	EFNB1	CCDC47	GTF2IRD1	MYOD1	G6PC3	PLEKHM1	TMEM231	PI4KA	FBLN5	WDR35	NARS1	MRAS	TMEM94	SLC5A7	TRPS1	GZF1	SNX14	WNT7A	FBN2	VPS37A	PIGQ	ZFPM2	TELO2	ALPL	IFT172	BCL7B	SLC2A10	MAPRE2	VPS13B	PPP1R21	ELMO2	SPECC1L	NCF1	VAMP1	COL12A1	GTPBP2	FAM20C	UBTF	AIFM1	PPP1R15B	BCOR	KDELR2	LMX1B	TBCD	ATG7	GLB1	DLK1	RFC2	ABL1	PPIB	LRP2	EFEMP2	TBL2	TMCO1	ERF	TGFB3	FGFR2	INPPL1	NEPRO	SMAD2	SLC34A1	GTF2I	SUFU	CCBE1	PLAA	MARS2	CRTAP	NKX3-2	BICRA	RNF135	CEP120	PQBP1	MYO9A	KDM6B	EVC	ASAH1	ADAMTSL2	STX1A	GBA1	DNAJC30	PTCH2	NSUN2	ADGRG1	SETBP1	CDC42BPB	NEB	ASPH	NIPBL	MYLK	USF3	SLC18A3	GNPTG	FKBP10	ANAPC7	AEBP1	COG4	PPP2R1A	NOG	SOS2	DACT1	IFT52	RAB33B	CHST3	ORC1	GDF11	SMC3	ASH1L	BUD23	NHLRC2	IL6ST	NUP107	NEK1	SNAP25	INTS1	PGAP2	KLHL41	PYROXD1	RASA2	GATA6	SMAD4	HNRNPH2	IRX5	MET	ACTB	MAP2K1	RAB3GAP2	PLOD2	PYCR2	MYF5	FRAS1	SH3PXD2B	GJA5	KRT5	CHST14	OBSL1	LMBRD2	AGRN	SOX10	POLR2A	PIGW	IFT43	GTF2IRD2	PHEX	LIMK1	PGAP3	LMOD3	AKT1	HPGD	MYH11	PIGU	TMEM270	DDR2	RET	LTBP2	GALNS	SLC34A3	B3GAT3	ORC6	MED25	PIK3C2A	PIGS	GORAB	KLLN	TBX6	CA2	TBCK	WBP11	BUB1B	ARID2	PIGL	MAP3K7
HP_PECTUS_EXCAVATUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PECTUS_EXCAVATUM	PROKR2	EXTL3	CHRM3	CHRNG	MECP2	VPS37D	IFT122	LRP4	MATN3	CUL7	HS2ST1	SDHD	ZBTB20	GPC4	IPO8	PIGY	ACTA1	TPM2	PTPN11	KRAS	SETD2	GNPTAB	PLOD1	FZD2	MEGF8	ASXL1	SEC23B	PDHX	SEC24D	ATP2B1	ATP6V0A2	FHL1	TGDS	LIG4	ZEB2	TGFBR2	RPS6KA3	KAT6A	DYRK1A	NKAP	MED12	RRAS	CFL2	SKI	BMP2	RBM10	SMC1A	TAF1	RIT1	IGBP1	PIEZO2	VPS33A	HSPG2	FLNA	CREBBP	ZDHHC9	LZTR1	NPR3	MLXIPL	MTX2	DVL1	HSD17B4	PIEZO1	AP1G1	LMNA	RIN2	MYL2	FKBP6	KIF7	KMT2A	APC2	KDM5C	RTL1	TRIO	PIK3CA	RAF1	CHST11	GNB1	CLIP2	HACD1	FMR1	SLC37A4	TUBB	KANSL1	BICD2	PTEN	DPF2	ROR2	DHODH	MAN2B1	PPP1CB	SRY	RAD21	TBX5	PCGF2	CSGALNACT1	MAF	SRPX2	SDHB	SLC16A2	FBN1	COL11A2	SPRTN	TRIP4	NRAS	IGF1R	NAA10	HNRNPK	COL3A1	ATP7A	UPF3B	SPRED2	MAP2K2	FARSB	PACS1	CBL	NOTCH3	SLC9A6	NSD1	SMS	WNT5A	SCARF2	CDH11	B3GALT6	GPC3	LTBP1	COL2A1	B3GLCT	PIGT	SELENON	COL5A1	MGAT2	SYNE1	TRMT10A	BAZ1B	ELN	MBTPS2	FLNB	EP300	ZMIZ1	RAB5IF	IHH	EIF4H	XYLT1	HUWE1	NXN	TCTN3	ITGA7	FGFR3	CBS	GJA8	PIGO	BRAF	THSD4	COL1A2	PRR12	PUF60	MYH3	TPM3	BCORL1	SOS1	AMER1	FKTN	NFIX	SDHC	EMD	BRD4	MAP3K20	ITCH	TMEM43	SHOC2	NF1	MEGF10	FGD1	MEG3	MYPN	TGFBR1	SYNE2	PIGV	MSTO1	RRAS2	METTL27	DVL3	HDAC8	ALDH18A1	SIK3	EFNB1	CCDC47	GTF2IRD1	MYOD1	TMEM231	PI4KA	FBLN5	WDR35	NARS1	MRAS	TMEM94	PIGQ	TELO2	BCL7B	SLC2A10	MAPRE2	SMAD3	VPS13B	SPECC1L	NCF1	COL12A1	FAM20C	PPP1R15B	BCOR	KDELR2	LMX1B	TBCD	ATG7	CD96	DLK1	WDR19	RFC2	ABL1	PPIB	EFEMP2	TBL2	TMCO1	ERF	TGFB3	INPPL1	NEPRO	GTF2I	CCBE1	CRTAP	BICRA	PQBP1	KDM6B	ADAMTSL2	STX1A	GBA1	DNAJC30	NSUN2	ADGRG1	CDC42BPB	NEB	ASPH	USF3	ANAPC7	AEBP1	COG4	PPP2R1A	NOG	SOS2	IFT52	GDF11	SMC3	MFAP5	BUD23	NHLRC2	NUP107	LOX	INTS1	PGAP2	KLHL41	PYROXD1	RASA2	IRX5	MET	ACTB	MAP2K1	RAB3GAP2	MYF5	SH3PXD2B	GJA5	CHST14	LMBRD2	SOX10	POLR2A	NIPBL	PIGW	PYCR1	IFT43	GTF2IRD2	LIMK1	PGAP3	LMOD3	AKT1	HPGD	PIGU	TMEM270	DDR2	RET	LTBP2	PTCH1	KLLN	CA2	TBCK	WBP11	ARID2	PIGL	MAP3K7
HP_PECTUS_CARINATUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PECTUS_CARINATUM	CHRM3	CBS	HBA1	ARSB	BMP1	ACP5	TRIP11	GPC4	SOX5	FBN1	FN1	EXOC6B	IPO8	COL2A1	CSF1R	PTPN11	CBL	COL13A1	TGFBR1	RRAS2	DVL3	HYOU1	UCHL1	FZD2	MEGF8	MME	SLC12A2	ARL3	ATP2B1	WNT5A	LGI3	G6PC3	ZEB2	PLEKHM1	TGFBR2	XYLT2	RPS6KA3	B4GALT7	TNFRSF11A	NKAP	RRAS	MRAS	SKI	SLC5A7	TRPS1	GZF1	RIT1	KRAS	LZTR1	SNX14	DYM	VPS33A	IHH	WNT7A	FBN2	HSPG2	ZDHHC9	VPS37A	TRPV4	SLC2A10	SP7	SMAD3	PPP1R21	BGN	VAMP1	GTPBP2	UBTF	TBX3	AP1G1	TBCD	NF1	GLB1	AGA	MAN1B1	HDAC4	ATAD3A	HRAS	PPIB	TGFB3	NEU1	FGFR2	RAF1	INPP5K	NALCN	PLAA	MARS2	NKX3-2	EVC2	SLC37A4	RNF135	MYO9A	EVC	ROR2	MAN2B1	PPP1CB	MYH3	SOX9	PCGF2	DVL1	COL11A2	TNNT1	SLC18A3	NRAS	GNPTG	TELO2	FKBP10	COG4	ATP7A	UPF3B	SPRED2	SOS2	SLC25A1	MBTPS1	RAB33B	CHAT	SMS	CHST3	ORC1	TGDS	MFAP5	PYCR1	ASH1L	IL6ST	NEK1	TOE1	RAD21	SNAP25	RASA2	PIEZO2	HNRNPH2	RMRP	MBTPS2	ACTB	TNFRSF11B	MAP2K1	RAB3GAP2	PLOD2	PYCR2	FLNB	NOTCH2	KRT5	OBSL1	AGRN	KANSL1	BMP2	SIL1	B3GALT6	XYLT1	KIF7	HBA2	NXN	GPC3	BRAF	FAM149B1	GUSB	GALNS	B3GAT3	MED25	HNRNPH1	SYT2	PIGS	GORAB	TBX6	PTF1A	SOS1
HP_ABNORMALITY_OF_THE_BREAST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_BREAST	UBA2	PIGN	ZFTA	CYP11A1	FGF17	ABCD4	NSD2	TP53	CUL4B	HS2ST1	SDHD	BRCA1	ZBTB20	TP63	GPC4	GNE	KISS1R	AIP	PIGY	IDH1	APC	NUP107	ZFPM2	ORC1	FRAS1	PTPN11	CYP17A1	COQ8A	HFE	GNPTAB	CDKN1B	PIGL	CDT1	MEGF8	SEC23B	DHCR7	COX7B	RASGRP1	TCF4	MSH2	MSH6	BRCA2	GNAS	TWIST2	SRY	SLC25A46	TERF2IP	TBL1XR1	SPIDR	MECP2	CCDC141	WWOX	KAT6A	AXIN2	RRAS	AKT1	SMC1A	PTPRF	EDARADD	RIT1	KDM5B	LAMA5	ORC4	FREM2	MTX2	MITF	NTHL1	OPCML	ALG12	POLR3A	HS6ST1	CDC6	STAG1	LZTR1	ZEB2	ALMS1	CDH23	DHODH	CHRNG	DUSP6	PTEN	TBX3	NQO2	CDH1	YY1	RAD51	MEN1	LEPR	WT1	KNSTRN	SH3PXD2B	PPP2R5D	PACS1	TCF20	SRD5A3	COLEC11	MAN1B1	KIAA0586	CTNNB1	WDR11	ASXL3	KATNB1	PPM1D	HNRNPK	GTF2E2	CSPP1	BAP1	ERBB2	HMMR	PIK3CA	ATN1	WRN	NDNF	EBF3	CHEK2	ANOS1	SPRY4	WAC	HSD17B3	KRAS	GNRHR	HDAC8	FIG4	CDH2	TUBB	KANSL1	LEP	ESR1	TRRAP	ZNF148	PPP1CB	RAD21	DMRT3	IKBKG	BMP6	SPTBN1	SDHB	ERMARD	CASP8	LMNA	NRAS	LAS1L	GNB2	CDC45	KCTD1	BRAF	IGF1R	PDE8B	CHAMP1	CDKN2A	NR0B1	INTU	ZMYND11	ALG11	ARHGEF2	RB1CC1	PRKAR1A	EXOC2	CBL	GATA4	MADD	PROP1	IBA57	SMS	RSPO2	PALB2	INSR	REV3L	CDH11	TTC5	NSMF	SLC22A18	AR	GPC3	CHST3	AAGAB	WNT3	FSHR	MRE11	ANTXR1	B3GLCT	WDR37	PIGT	SLC6A17	CDK13	MGAT2	PLXND1	SMCHD1	COG7	BLM	VAC14	ASXL1	FSHB	AFF4	PHF6	CCDC22	GNRH1	KIFBP	MLH1	RBM28	PSAT1	TRAF7	OTX2	WASF1	KDM6A	AKT2	PRKCD	PROK2	FEZF1	CKAP2L	IL17RD	MDH2	PEX3	SOX6	TMEM53	SET	FGF8	PIGO	SLC29A3	CDKN1A	LBR	PRLR	RNF43	EZH2	MASP1	NONO	PRKN	BARD1	PHB1	PROKR2	GPR101	CILK1	ACOX1	FOXA2	ALG8	SOS1	AMER1	IDH2	FAS	SDHC	FMR1	BRD4	ERCC6	MBD4	ITGA3	FGFR2	PNPLA6	CHD7	NR5A1	PSMC3IP	RAB18	MEG3	MRPS22	SOX3	TNRC6B	SLCO2A1	SEMA3A	DCC	AMMECR1	PIGV	RRAS2	TERT	ORC6	RSPO1	HPGD	STK11	EFNB1	CCDC47	EDA	H4C9	CPT2	KDM1A	MRAS	IRF4	SMPD4	POC1A	TMEM94	KISS1	CPLX1	PMM2	GTF2H5	WNT7A	CDKN2B	DPAGT1	ACD	CPE	MAPRE2	LETM1	PSMB8	MPLKIP	ZC4H2	RERE	CYP11B1	LHX4	GLI2	UBR1	RAD54L	PIK3CD	ARHGAP31	DYRK1A	ARCN1	EED	RFT1	FASLG	DDX6	TMCO1	UBE2A	RABL3	KRT10	BMP15	POLR3H	TACR3	NECTIN1	ALG3	RNF216	NFIX	TAC3	RAD51D	PIGG	FLRT3	GMNN	SOX9	BICRA	TFAP2A	CDKN2C	NELFA	KDM6B	CYB5A	MAF	TIMM50	WDR19	NBN	NIN	ERCC3	KLLN	FGFR1	SETBP1	POLE	B4GALT1	NIPBL	RIPK4	USF3	XRCC3	BNC1	COLEC10	C18orf32	SLC35A2	TFAP2B	CACNA1C	RAD51C	CYP19A1	VAMP7	DHX37	MGMT	SOS2	TOGARAM1	DLK1	H3-3A	PDE11A	HESX1	TWIST1	TARS1	SMARCA2	WASHC5	ALG9	ALG2	PALLD	GDF11	SMC3	ALG14	COG1	SPRED2	ATR	HDAC4	MDM2	ASH1L	KIF15	CARS1	BRIP1	PGAP2	CERT1	RASA2	SLC25A24	NUP188	HSD3B2	KMT2B	RAF1	MAP3K1	DPM1	MC1R	ACTB	MAP2K1	RAB3GAP2	ZSWIM7	ERCC2	STT3A	RNF113A	GRIP1	SMAD4	PRKACA	MEFV	CASP10	PIGW	USP9X	CDK4	DEF6	RAD50	PGAP3	COL14A1	RTL1	RELA	NF1	WLS	LHB	SOX10	POLD1	MAB21L1	ATM	POT1	OFD1	POU1F1	ADNP	PORCN	CTBP1	CYP21A2
HP_GYNECOMASTIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GYNECOMASTIA	PIK3CA	SRY	CYP11A1	DMRT3	CCDC141	PROK2	FGF17	ALMS1	BMP6	FGFR1	ITGA3	ZBTB20	CUL4B	SPTBN1	SDHD	CHD7	PNPLA6	SDHB	ERMARD	FGF8	NR5A1	KISS1R	USF3	LAS1L	SLC29A3	ZFPM2	NR0B1	CYP17A1	COQ8A	SLCO2A1	RBM28	SEMA3A	HFE	DCC	AR	CYP19A1	VAMP7	SPRY4	SEC23B	DHX37	RSPO1	HESX1	GATA4	HPGD	HS6ST1	NSMF	MECP2	WWOX	AIP	KISS1	SMCHD1	HSD3B2	AFF4	MAP3K1	PHF6	CPE	POLR3A	GNRH1	CDH23	MEN1	AKT2	DUSP6	FEZF1	PSMB8	PTEN	LEPR	CYP11B1	IL17RD	WT1	SH3PXD2B	TCF20	TMEM53	WDR11	AKT1	TACR3	ANOS1	LHB	SOX10	RNF216	TAC3	NDNF	PDE11A	FLRT3	HSD17B3	STK11	PRKAR1A	LEP	PROKR2	GNRHR	HDAC8	KLLN	SOX9	CYB5A	SDHC	FMR1	CYP21A2
HP_ABNORMAL_RIB_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RIB_MORPHOLOGY	FGF8	CHRNG	DLL1	ARSB	SEMA3E	ODC1	CYP27B1	IFT122	ABCD4	HSPG2	MATN3	TMCO1	MTMR14	CUL7	ARSL	HES7	IFT43	GPC4	LBR	IDS	KYNU	CASZ1	COL11A1	MEOX1	PPP3CA	ORC1	DYNC2I1	RTL1	WASHC5	B4GAT1	CHRM3	LMOD3	IFT140	CDT1	WDR35	LRP5	COL11A2	UBA1	TRPV4	NSD2	CTNS	SLC26A2	DHCR7	NAGLU	SEC24D	GLI3	IL1RN	DYNC2H1	TAPT1	MESP2	ANKRD11	ZMPSTE24	CREB3L1	CCDC8	GPX4	COL10A1	GNPTAB	TTC21B	OBSL1	FGFR3	SKI	BMP2	HNRNPR	DYM	LAMA5	ORC4	ADAMTS10	COL1A2	PTH1R	ALG12	CDC6	DYNC2I2	MTX2	DDRGK1	PCYT1A	PLCB3	CFAP410	GDF6	PRDM16	SCUBE3	NALCN	GATA6	C2CD3	KIAA0586	RUNX2	KMT2A	PTCH1	CSPP1	COG1	POLR3A	PDPN	CHD7	PRKG2	ATR	NEK9	GLE1	MTM1	IRF6	SGSH	ATP6V1B2	EVC2	EXT2	TBCE	EFL1	CEP120	ROR2	FBN1	SRP54	GAS1	MAN2B1	CYP2R1	SOX9	LETM1	CPLX1	IKBKG	EBP	DLL3	TNFSF11	CENPJ	FOXF1	ERMARD	COL2A1	DYNC2LI1	GABRD	ADA	PTDSS1	ABCC9	INTU	ATP7A	KLHL41	SBDS	FLNA	DONSON	SCARF2	P3H1	GPC3	SOST	WNT3	CLCN7	FLNB	STIL	MMP23B	TNFRSF11A	TGIF1	VAC14	MEG3	RMRP	COMP	CCDC22	FUZ	IFT57	FLI1	SON	SNX10	GLB1	TMEM53	NFASC	NXN	EXT1	PAM16	LFNG	OCRL	SRCAP	EZH2	DNM2	TRIP11	PUF60	MYH3	GLI2	SNRPB	SLC35D1	IFT80	ZIC2	AMER1	DACT1	VDR	WDR19	B3GALT6	AFF3	HDAC6	LMNA	MAP3K7	PAX3	RNU12	SPEN	CTBP1	KLHL40	DYNLT2B	ORC6	INPPL1	RTTN	FGFRL1	TBX5	SIX3	TENT5A	GNS	EXOC6B	CDON	JAG1	IHH	WNT7A	CHRND	PLOD1	PAICS	ALPL	IFT172	VANGL1	IFT81	BGN	FOXH1	AIFM1	MGP	LMX1B	TDGF1	LUZP1	PTPN11	TRPV6	NEB	DLK1	FAM111A	SMAD4	PPIB	RECQL4	PORCN	RRAS2	RPS26	MUSK	SLC34A1	SUFU	BMPER	PIGG	KCNAB2	TFE3	ALDH1A2	CRTAP	NKX3-2	GMNN	GDF3	BIN1	NELFA	HGSNAT	ARSK	EVC	XYLT1	MAF	SHH	TBC1D24	PTCH2	SH2B1	SETBP1	TBX6	RERE	NIPBL	FIG4	RPS19	RYR1	ACTA1	PRKCZ	DNMT3A	NOG	RBM8A	POR	CEP152	COL1A1	SOX2	CHST3	TOR1A	GDF11	KCNJ8	PRIM1	DNAJC21	SF3B2	LRP4	NEK1	SMO	SF3B4	BANF1	ACTB	CPLANE1	MYF5	SIX6	LIFR	P4HB	MYF6	UBE4B	FERMT1	PHEX	NODAL	CDC45	ANK1	SERPINH1	DISP1	MMP13	DDR2	MAMLD1	CHRNA1	ESCO2	IDUA	RIPPLY2	TCIRG1	GALNS	NSDHL	SLC34A3	B3GAT3	RNU4ATAC	APC	SALL1	USP18	HOXD13	WNT1	CA2	TBCK	RSPO2
HP_SHORT_RIBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_RIBS	ALPL	ALG12	MYF5	PTCH2	DYNC2H1	PTH1R	DYNC2LI1	DDRGK1	IFT81	IFT122	HSPG2	INPPL1	SETBP1	PLCB3	CUL7	IFT43	COL2A1	GPC4	LBR	FIG4	COL11A1	LMX1B	GPX4	MEG3	DYNC2I1	TRPV6	RNU12	FGFR3	C2CD3	INTU	RTL1	KIAA0586	IFT140	GPC3	RUNX2	WDR35	SLC35D1	COL11A2	PAM16	UBA1	DYNLT2B	PTCH1	TRPV4	CSPP1	PORCN	SLC26A2	DDR2	DLK1	EZH2	IFT172	DYNC2I2	SCARF2	NSDHL	ORC1	SUFU	TAPT1	TRIP11	ORC6	GNPTAB	IFT80	NEK1	NKX3-2	EVC2	SMO	SF3B4	CEP120	LAMA5	IHH	EVC	VAC14	FLNA
HP_ABNORMALITY_OF_THE_DIAPHRAGM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_DIAPHRAGM	BRD4	PIGN	LRP2	ADAT3	PPM1D	IGHMBP2	RAD21	MN1	SH2B1	GATA4	GATA6	DLL3	CDC42BPB	RARB	HES7	GPC4	NIPBL	KDM6A	KMT2D	LTBP4	ZNF699	MEGF10	HYLS1	GNB2	WNT4	ADGRG6	MAP3K7	NDUFB11	ACTA1	ANAPC7	TRIP4	LMOD3	KLHL40	POGZ	MEGF8	NSD2	WNT3	KLHL41	HDAC8	DHCR7	ARID1B	DACT1	MYRF	COX7B	GLI3	CHST3	EFNB1	HCCS	KIAA0586	LONP1	SMC3	MYOD1	GPC3	ZFPM2	HDAC4	FBLN5	NDUFAF5	CPLX1	MAMLD1	SMC1A	GNE	FLNA	SF3B4	DIS3L2	WT1	MTHFR	MTM1	VANGL2	TRAIP	SEC31A	SLC2A10	REEP1	PCNA	PBX1	CHRNG	LETM1	RSPO2	GDAP1	MAFB	STAG2	PLOD3	SIN3A	NEB	MCTP2	KIF7	ALG9	CD96	ABL1	EFEMP2	LFNG	RLIM	PORCN	CHUK	NR2F2	WLS	RPS26	RIPPLY2	PIGG	AR	B3GAT3	SMARCB1	KCNA1	ALDH1A2	ASNS	RPS28	KDM3B	HOXD13	TRRAP	STRA6	NELFA	MESP2	CTBP1	MID1	DNAJC19	MAF	ARID2
HP_CONGENITAL_DIAPHRAGMATIC_HERNIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_DIAPHRAGMATIC_HERNIA	BRD4	PIGN	LRP2	ADAT3	PPM1D	RAD21	MN1	SH2B1	GATA4	GATA6	DLL3	CDC42BPB	RARB	HES7	GPC4	NIPBL	KDM6A	KMT2D	LTBP4	WNT4	MAP3K7	NDUFB11	ANAPC7	POGZ	NSD2	WNT3	HDAC8	DHCR7	ARID1B	DACT1	MYRF	COX7B	GLI3	CHST3	EFNB1	HCCS	KIAA0586	LONP1	SMC3	GPC3	ZFPM2	HDAC4	FBLN5	NDUFAF5	CPLX1	MAMLD1	SMC1A	FLNA	SF3B4	DIS3L2	WT1	MTHFR	VANGL2	TRAIP	SEC31A	SLC2A10	PCNA	PBX1	CHRNG	LETM1	RSPO2	MAFB	STAG2	SIN3A	MCTP2	KIF7	ALG9	CD96	ABL1	EFEMP2	LFNG	RLIM	PORCN	CHUK	NR2F2	WLS	RPS26	RIPPLY2	PIGG	AR	B3GAT3	SMARCB1	KCNA1	ALDH1A2	RPS28	KDM3B	HOXD13	TRRAP	STRA6	NELFA	MESP2	CTBP1	MID1	MAF
HP_ABNORMALITY_OF_THE_THYMUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_THYMUS	RAG2	IL2RG	AKT1	AK2	PLXND1	FRAS1	WIPF1	TBX2	SEC24C	TTC7A	TBX1	ATM	TP63	PTEN	RORC	ANTXR2	ADA	LTBP4	SKIC3	PEX5	POLR1C	HIRA	POLR1D	ERCC8	TCOF1	MCM10	NKX2-6	CDKN1B	NSMCE3	WAS	CDKN1A	PI4KA	DCLRE1C	SKIC2	POLR3A	RAG1	MEN1	GP1BB	ARVCF	CHD7	JMJD1C	ALG14	G6PC3	NEK9	RREB1	POLR1B	TFAP2A	CDKN2C	EPG5	CDKN2B	COMT	UFD1	MTHFR	VANGL2
HP_ABNORMAL_SCAPULA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SCAPULA_MORPHOLOGY	FHL1	VCP	TMCO1	CUL7	TMEM43	COL3A1	LBR	CAPN3	FLNA	COL11A1	C19orf12	MEOX1	RPS26	TK2	PAX3	LEMD3	MEG3	NEFL	MYPN	TTN	EMD	GNPTAB	RPS24	SYNE2	GATA1	SGCG	EXT1	SGCA	COL11A2	RPS27	ATP6V0A2	ADA2	TBX3	EFNB1	NEB	TBX5	SMCHD1	RPS28	CCDC8	GPX4	SEPTIN9	OBSL1	PAX1	COL6A3	GDF6	RPL15	DYM	RPL11	COL12A1	HSPG2	KCNJ2	GYG1	SGCD	BIN1	GMPPB	MYH7	RPS29	KBTBD13	CRPPA	RPL27	RPL35A	ACTA1	FGFR1	PSMB8	FRG1	LMX1B	LMNA	PTPN11	COL6A2	ACTB	MYBPC1	ALG2	RUNX2	RPS10	SLC35D1	PCNT	PTCH1	TRPS1	TGFB3	TRPV4	TRIO	POMT2	TNPO3	RAF1	SUFU	ANO5	TMEM251	FIG4	EXT2	GDF3	CDH2	BICD2	RPL18	VWA1	RYR1	RPL31	RPL5	KLHL41	SOX9	PTCH2	TBX2	INPPL1	CSGALNACT1	GFPT1	SQSTM1	RIPK4	ADA	COLQ	RPL26	DYSF	GSC	TPM2	SPRED2	DLK1	POR	TSR2	SGCB	SCARF2	ORC1	GDF11	SMPX	ASH1L	TBX15	SPEG	RPS19	GNE	POLG	SOST	WDR35	PYROXD1	SYNE1	VAC14	DSTYK	DPAGT1	RPS15A	LGI4	SF3B4	FBN1	RPS20	LAMB2	POGLUT1	MYH2	RSPO2	FLNB	EYA1	TPM3	DNM1L	MAP3K7	RPS17	FGFR3	OPA1	RTL1	ANXA11	COL2A1	BRAF	TWNK	EMILIN1	PRR12	RPL35	NSDHL	ALG14	TRIP11	LRIF1	RPS7	COL6A1	NPR2	WBP11
HP_PRIMARY_AMENORRHEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMARY_AMENORRHEA	BRD4	PROKR2	CCDC141	FGF17	YARS1	SNRPN	AXL	FGF8	MKRN3	CHD7	DHH	NR5A1	KISS1R	AR	PSMC3IP	WDR11	NUP107	ZFPM2	MRPS22	GNRHR	CYP17A1	SEMA3A	DCC	MSTO1	MAGEL2	HDAC8	WNT4	SRY	EIF2B3	SPIDR	EIF2B5	GPR161	WWOX	KISS1	SMC1A	TAC3	HS6ST1	LARS2	TWNK	CYP19A1	NIN	CPE	FEZF1	ESR2	SMCHD1	WT1	GDF9	TP63	DUSP6	CLPP	LEPR	SYCE1	PPARG	EIF2B1	MCM9	NOBOX	EIF2B4	BMP15	POLR3H	TACR3	MCM8	NDNF	GNRH1	ANOS1	SPRY4	FLRT3	HERC2	SOX9	CTDP1	ROBO1	LEP	ESR1	PEX6	NDN	PRORP	CYB5A	BMPR1B	OCA2	SEMA3E	NPAP1	RAD21	PROK2	DMRT3	POLG	ERAL1	FGFR1	SNORD115-1	FSHB	CISD2	PWRN1	BNC1	LHX4	NR0B1	SNORD116-1	PWAR1	HESX1	VAMP7	DHX37	EIF2B2	POR	GATA4	SRA1	SMC3	NSMF	FSHR	ITGA8	STAG3	GATA3	MAP3K1	ZSWIM7	FIGLA	CDON	CAV1	NIPBL	IL17RD	POF1B	SOHLH1	TRMT10A	SOX10	PEX1	PCSK1	GALT	SIM1	HSD17B4
HP_NEPHROLITHIASIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEPHROLITHIASIS	SPRED1	VDR	DNAJC30	CLDN19	VPS37D	CLDN2	SLC2A9	MOCOS	PPM1B	ATP6V1B1	SLC6A19	PKD2	SERPINA1	CLCN5	CLDN16	BSCL2	PDE8B	GRHPR	PRPS1	CASR	PLG	SLC9A3	SETBP1	KCNN4	CDKN1C	METTL27	CDKN1B	GANAB	SLC37A4	HPRT1	ADCY10	SLC36A2	CTNS	PREPL	PRKAR1A	CREBBP	PDE11A	HNF1B	CLCA4	HOGA1	TBC1D7	SLC7A9	GDF2	NOD2	GTF2IRD1	HLA-DRB1	ATP7B	SLC26A9	ADAMTSL1	FBN1	BUD23	SLC22A12	APRT	CAMKMT	CDC73	SMAD4	CYP24A1	CEACAM6	SLC9A3R1	AP2S1	AGXT	SLC26A1	SLC6A14	PIDD1	HSPG2	CDKN2B	SLC3A1	SLC34A2	DSE	ALG5	BAZ1B	HMOX1	ELN	ACVRL1	GSTM3	BCL7B	DNAJB11	MLXIPL	CACNA1D	MYL9	SLC34A1	AGPAT2	SLC4A1	SLC1A1	NCF1	PRKACA	CLDN10	SLC5A1	HGD	EIF4H	GCLC	GTF2IRD2	LIMK1	CTH	SI	FKBP6	MGME1	SERPINH1	G6PC1	DCTN4	RFC2	CDKN1A	TBL2	SLC6A20	TMEM270	OCRL	CHKA	KCNH1	IGF2	CFTR	MEN1	HFE	TGFB1	ARMC5	BICC1	GTF2I	EDNRA	ENG	GCM2	SLC11A1	SLC34A3	COQ6	IFT140	PLCD1	CHST14	CLIP2	MOCS1	CEACAM3	GNAS	PKD1	XDH	MOCS2	STX1A	KCNQ1OT1	OPLAH	CDKN2C	BTNL2	ARSK	AIP	ALG9	KRT17	KCNQ1	ANTXR1	USP8	MIF	CA2	GNA11	ROR2	EP300	PAX2
HP_INFERTILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFERTILITY	CFAP43	M1AP	NR3C1	DNAJB13	CLDN2	SHOC1	SNRPN	CFAP47	FANCA	AXL	CFAP58	MKRN3	DAZ1	DHH	CDC14A	NR5A1	ZP2	AR	BTG4	TGFB1	DNAAF4	SYCP3	RSPH3	SUN5	ZFPM2	SOX3	GNRHR	PTPN11	IFT74	MSH4	STK36	GCNA	HFE	ODAD4	DNAH17	CFAP300	CTNS	MAGEL2	HSF2BP	USP9Y	AMH	H6PD	SYCE1	HSFY1	FBXO43	ZMYND15	PSMC3IP	CCDC65	SRY	REC114	WEE2	BPY2	WWOX	RBMY1A1	RNF216	PADI6	FOXJ1	ADGRG2	NME8	TSGA10	ZSWIM7	CYP19A1	FCGR2A	ODAD2	TEX11	PMFBP1	DNAH1	DNAH5	ASTL	GBA2	HLA-DQB1	SLC26A8	PNLDC1	SPAG1	PLCZ1	GGN	DNAH11	DNAI1	CFAP221	RSPH4A	NEK10	LHX4	GLI2	WT1	HYDIN	SPEF2	CFAP298	MSH5	CATSPER2	ZMYND10	CDY1	RSPH1	MEI1	QRICH2	DPY19L2	PRLR	FOXL2	TERB1	MCIDAS	RSPH9	TERB2	LHCGR	RNF212	PANX1	PLIN1	XRCC2	GAS2L2	DNAAF2	PDHA2	FSIP2	MOV10L1	DNAAF5	HSD17B3	MNS1	CEP19	HERC2	CFTR	DNHD1	DDX3Y	SOX9	CDH23	STAG3	CYP17A1	PATL2	NDN	CDY2A	TTC29	OCA2	SEMA3E	AK7	STRC	NPAP1	CFAP52	SYCP2	DMRT3	BMP6	ZPBP	PPP2R3C	DZIP1	SNORD115-1	FSHB	SPATA16	ACTL9	LRRC56	DAZ3	FEZF1	DAZ2	GCM2	PWRN1	GAS8	TUBB8	OFD1	DNAL1	NR0B1	SNORD116-1	CCDC40	PWAR1	CCDC62	PROP1	SPRY4	DNAAF11	MEIOB	VAMP7	DNAAF6	AURKC	DHX37	DNAH8	RPS4Y2	GATA4	GNRH1	SRA1	DNAAF3	DNAH2	CCDC39	C14orf39	TLE6	SOHLH1	SPAG17	VCY	DNAAF1	TRIP13	ODAD3	KDM5D	KLHL10	DNAH10	BLM	HJV	DNAI2	PRY2	MAP3K1	HLA-DQA1	MAP2K1	DNAH9	CATIP	ZP1	TTC12	FIGLA	OTX2	GGPS1	RPGR	WDR19	CFAP70	AMHR2	TSPY1	POF1B	CEP112	CFAP251	WDR11	SEPTIN12	BRDT	RPL10L	TTC21A	C11orf80	FKBP6	CCDC103	DUSP6	CATSPER1	CCNO	HESX1	BRAF	C2CD6	CFAP44	ZP3	CCDC34	CFAP65	TEX14	PGR	ARMC2	STUB1	POU1F1	FOXA2	PRY	FGF17	GALT	DRC1	SIM1	DAZ4	ODAD1	CCDC141	NANOS1
HP_URIC_ACID_NEPHROLITHIASIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URIC_ACID_NEPHROLITHIASIS	PRPS1	SLC22A12	APRT	SLC2A9	HPRT1
HP_MEMBRANOPROLIFERATIVE_GLOMERULONEPHRITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEMBRANOPROLIFERATIVE_GLOMERULONEPHRITIS	C1QB	SOX18	ZNFX1	C1QA	DNASE2	PGM3	SLC37A4	C1QC	LMNB2
HP_ABNORMALITY_OF_THE_URETHRA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_URETHRA	PIGN	BCOR	CHRM3	CYP11A1	MECP2	MKKS	FANCB	VPS37D	POLA1	FBXL4	CUL4B	CUL7	HES7	KIAA0753	UBE2T	RPGRIP1	GPC4	ZNF699	HYLS1	FLNA	CASZ1	B9D2	PITX2	SMARCB1	ZFPM2	ORC1	DYNC2I1	TERT	WASHC5	NDUFB11	FRAS1	PTPN11	SETD2	EHMT1	GATA4	RPS24	BNC2	LMOD3	IGF2	FZD2	CDT1	WDR35	NSD2	COL7A1	TRIM8	DHCR7	HSPG2	RPS27	GLI3	GP1BB	CYP17A1	ADA2	SMARCA4	SRY	TAPT1	LIG4	RPS28	TTC8	ITGA6	ZEB2	ZMPSTE24	WWOX	MED12	RREB1	SRD5A2	CCDC8	PARN	OBSL1	NR5A1	SMC1A	KDM5B	UBA1	TINF2	ARID1B	TCTN1	ORC4	FREM2	PALB2	HNF1B	MED12L	RPS29	ALG12	CREBBP	POLR3A	CDC6	CDCA7	FERMT1	USP9X	DYNC2H1	HOXA13	MAMLD1	MLXIPL	BRCA2	SMCHD1	STAR	RPL35A	CHRNG	PSMD12	WNT4	TP63	CEP290	ISL1	TBX22	RIN2	TBX1	PRDM16	SCUBE3	WT1	C2CD3	FKBP6	IKZF1	KIF7	KIAA0586	RAD51C	FGFR1	CTC1	PCNT	SKIC3	APC2	CSPP1	ARID1A	PDPN	MAD2L2	CDC42	RAF1	NPM1	FANCA	ATR	AR	MTM1	GATAD2B	PDE4D	CLIP2	BRIP1	EVC2	FIG4	COLEC11	MESP2	RFWD3	SMARCD1	MID1	HCCS	SOX9	RAD21	GNA11	SYNGAP1	DMRT3	LETM1	CPLX1	DLL3	RERE	SPTBN1	FOXF1	ERMARD	KDM6A	GABRD	PTDSS1	RTTN	CDC45	BDNF	RPL26	HSD3B2	WRAP53	NAA10	NR0B1	TCTN3	ITGB4	COLEC10	PNPLA6	SALL1	CYB5A	SAMD9	KLHL41	PLEC	PAX6	BRCA1	TMEM67	RAC1	NSD1	GRB10	SMS	CDH11	PEX5	GPC3	RPS19	B3GLCT	ATRX	MMP23B	DHX37	VAC14	COMT	POR	BAZ1B	RPS15A	AFF4	ELN	KRAS	CCDC22	EP300	ZMIZ1	SEC24C	NOTCH2	DCHS1	PEX16	EIF4H	PKP1	COX7B	H4C11	HUWE1	ERCC4	MAP3K7	MCTP2	MAPRE2	DYRK1A	HBA2	ZIC3	BRAF	KLF1	PSPH	SMARCE1	SOX11	LFNG	RLIM	CARS1	NR2F2	SRCAP	NDUFA6	PUF60	HNRNPH1	THOC6	MED25	CILK1	FLT4	KDM3B	RPS7	FDFT1	DACT1	POLE	FANCC	NDUFA8	RPGRIP1L	TERC	PRKACB	BRD4	ADAT3	HBA1	KAT5	RPL10	COL3A1	LSS	MYMX	TXNDC15	LMNA	HMGA2	KIFBP	RPS26	TCTN2	LTBP1	RNU12	TMEM107	FBLN5	SPEN	ATP6AP2	CTBP1	SSR4	GATA1	KLHL40	METTL27	DVL3	SKI	WNT3	HDAC8	ORC6	RSPO1	MTOR	NDUFS4	MYRF	WNT5A	FGFRL1	NDUFB7	TONSL	NHP2	EFNB1	PEX3	GTF2IRD1	NOP10	MBTPS2	KDM1A	SMARCA2	IFT80	TMEM94	PEX1	RPL15	PRPS1	RPL11	WNT7A	RTEL1	FAT4	PAICS	TMEM70	MAB21L2	PEX6	BCL7B	RPL27	MYMK	PEX19	HLA-B	SLC25A10	NCF1	EFEMP2	PRKAR1A	LUZP1	UBR1	SIN3A	NEB	TMEM237	TMEM216	ARCN1	RFC2	ABL1	USB1	FANCD2	RPS10	TBL2	SMAD4	PEX13	GTF2I	OGT	DYNC2I2	FANCI	DKC1	TUBB	PIGG	SMG8	KCNAB2	B9D1	SIAH1	SMARCC2	ZMYM2	HSD17B3	GMNN	BICRA	TFAP2A	RPL18	PQBP1	NELFA	EPG5	XRCC2	EVC	RPL31	STX1A	RPL5	DNAJC30	CDKN1C	ESCO2	NSUN2	DVL1	ARX	SETBP1	CDC42BPB	NIPBL	KMT2D	LAMB3	DNAJC19	PEX11B	HPSE2	HIRA	KARS1	ACTA1	PLAG1	MAP3K1	PRKCZ	CLMP	PEX12	PLD1	SOX4	VAMP7	SUCLG1	MNX1	FOXC1	CEP152	TSR2	SOX2	ARVCF	FOCAD	SMC3	COG1	PEX10	FGFR2	FANCF	SETD5	GLI1	BUD23	MKS1	PIEZO2	PEX2	TMEM63A	TYMS	TMEM231	ARL6IP6	MAP2K1	RPS20	ARID2	PPP1R12A	GRIP1	SIX6	PEX14	UBE2A	MMP1	FANCM	LAMC2	SLX4	KANSL1	UBE4B	ANKRD11	NKX2-1	TCF12	GTF2IRD2	LIMK1	FANCL	RPS17	RBBP8	LRIG2	DPF2	TMEM270	RPL35	LAMA3	JMJD1C	RIPPLY2	OTUD5	FANCE	DYNC2LI1	FANCG	PEX26	CC2D2A	HOXD13	RAD51	KAT6B	UFD1	CHRNA3	BUB1B	PRKACA	CYP21A2
HP_URETHRAL_OBSTRUCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETHRAL_OBSTRUCTION	ITGB4	DNAJC30	CHRM3	FERMT1	BCL7B	MLXIPL	MKKS	VPS37D	POLA1	TBX1	NCF1	COL7A1	MMP1	LAMC2	LAMB3	SRCAP	FLNA	EIF4H	PKP1	HPSE2	CDC45	RIN2	GTF2IRD2	WRAP53	LIMK1	MAP3K7	TERT	PLEC	SETD2	FKBP6	BNC2	LRIG2	METTL27	IGF2	RFC2	USB1	CTC1	SALL1	ELN	TBL2	APC2	TMEM270	DKC1	NSD1	GTF2I	NPM1	NHP2	LAMA3	GTF2IRD1	ITGA6	NOP10	PARN	HNRNPH1	BUD23	CLIP2	TINF2	ZMYM2	FLT4	MID1	RTEL1	DACT1	TYMS	STX1A	BAZ1B	TP63	TERC
HP_OLIGOSPERMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OLIGOSPERMIA	FBXO43	M1AP	NR3C1	SYCP2	CATIP	ALMS1	DZIP1	CFAP47	DAZ3	TDRD9	DAZ2	CATSPER2	STRC	CFAP91	CFAP70	TSPY1	SUN5	IFT74	MSH4	SEPTIN12	DNAH17	RPL10L	NR0B1	MEIOB	CFTR	FKBP6	USP9Y	CATSPER1	NR5A1	POR	LHCGR	CCDC34	PDHA2	PDE11A	CNBP	CFAP65	DAZ1	PRKAR1A	ARMC2	CEP19	RBMY1A1	POC1A	DNHD1	ADGRG2	DDX3Y	KLHL10	DNAH10	ANTXR1	DAZ4	BLM	FSHB	PMFBP1	TEX15
HP_RENAL_STEATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_STEATOSIS	SIX1	LDLRAP1	PCSK9	LDLR	EYA1	PCK2	APOB	PCK1	APOE	ABCG5	ABCG8
HP_CYSTIC_RENAL_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CYSTIC_RENAL_DYSPLASIA	NEK8	TBC1D24	BMPER	JAM3	BICC1	CPT2
HP_IMPOTENCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPOTENCE	GNRH1	HS6ST1	SMARCE1	CDH23	GUCY1A1	MEN1	LMNB1	PIGA	SACS	TTR	TRAF7	SUFU	PROK2	CHD7	DUSP6	PIK3CA	BAP1	TERT	HJV	SMARCB1	AKT1	HAMP	FMR1	FGF8	WDR11	CDKN1B	FGFR1	CDKN1A	KISS1R	SPRY4	ATXN8OS	SLC40A1	COQ2	ABCD1	NF2	TACR3	CACNA1G	FGF17	AIP	TAC3	SMO	NSMF	HFE	GNRHR	GPR101	KISS1	PROKR2	HEXB	CDKN2C	PDGFB	CDKN2B	BMP2	TFR2
HP_RENAL_CORTICAL_CYSTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_CORTICAL_CYSTS	CEP290	CSPP1	ETFA	IGF2	PEX1	ETFB	KCNQ1OT1	PEX2	MPDU1	CD96	KIAA0586	CDKN1C	KCNQ1	NEK8	PIGQ	ETFDH	INVS	SKIC3
HP_ENURESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENURESIS	FAM20A	PRKAR1B	SLC25A13	CLCNKB	NPHP3	AQP2	KCNJ10	FA2H	POLRMT	DLG3	SLC12A3	FOXP1	DMPK	RNF168	MLXIPL	HPSE2	SMARCA2	ZMYM2	LRIG2	AVPR2	BNC2	SLC5A2	RNF125	ELN	KY	DPH1	AGXT
HP_GLANDULAR_HYPOSPADIAS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLANDULAR_HYPOSPADIAS	HOXA13	SRCAP	MKKS	MAMLD1	MYMX	MTM1	MYMK
HP_PENOSCROTAL_HYPOSPADIAS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PENOSCROTAL_HYPOSPADIAS	NR5A1	MAMLD1	MYRF	CDH11	IGF2	COLEC10	ARCN1	HSD3B2	MTM1	DHCR7	SRY
HP_ABNORMAL_INTERNAL_GENITALIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_INTERNAL_GENITALIA	PMS1	PIGN	LRP2	ZFTA	BBIP1	CYP11A1	MKKS	FGF17	SEMA3E	FANCB	VPS37D	TP53	RARB	HES7	SDHD	UBE2T	BRCA1	FGFR2	SERPINA1	KISS1R	HYLS1	AR	STAT6	NUP107	ZFPM2	DYNC2I1	TERT	NDUFB11	FRAS1	CEP19	CHRM3	TSC2	WDR35	PLG	SEC23B	COL7A1	SPECC1L	MNX1	SETD2	MSH2	BTK	TCTN3	MSH6	BRCA2	GLI3	NPHP1	GP1BB	GNAS	CYP17A1	ADH5	PSMC3IP	BBS5	SRY	LMNA	SPIDR	ZEB2	TGFBR2	CCDC141	WWOX	RREB1	PARN	DHH	AKT1	ADGRG2	SMC1A	PIK3CA	CEACAM6	FOXE1	DCAF17	LARS2	FGF20	TWNK	FREM2	WT1	MLH3	CYP19A1	PALB2	HNF1B	NIN	DHX37	NTHL1	OPCML	CREBBP	HS6ST1	DYNC2H1	HNF1A	MLXIPL	RXYLT1	RNASEL	CYP11B1	TP63	TXNDC15	PRTN3	TRIP13	NDP	DUSP6	PTEN	C14orf39	FGFR3	TBX3	RAD51	CLPP	TRAF3IP2	SRC	LEPR	GCLC	FGF10	TBX1	PTPRJ	MKS1	HLA-DPB1	LONP1	FKBP6	GREB1L	DLC1	CTNNB1	RAD51C	WDR11	NOBOX	CTC1	GTF2E2	PTCH1	KLF6	CCND1	FOXL2	ERBB2	HFE	NR5A1	MAD2L2	WRN	CDC73	NDNF	EDNRA	SLC37A4	NPM1	FANCA	MMP14	ANOS1	SPRY4	SLC11A1	MTM1	MSH5	CDH1	SRD5A2	COL4A5	CLIP2	GNRHR	MINPP1	SOX9	BRIP1	CAVIN1	IDH1	ESR1	MESP2	PMS2	RFWD3	MIF	MID1	EP300	AXIN2	MT-CYB	JAK3	HCCS	SPRED1	BBS2	IGKC	RAD21	BRAF	DMRT3	LETM1	ERAL1	CPLX1	BUB3	DLL3	FOXF1	FREM1	SDHB	KIF7	RET	FH	CHD7	GNB2	RAD54B	NRAS	WRAP53	POLR1D	NR0B1	TCOF1	COL3A1	INTU	KRAS	KCNN4	CDKN1C	NSD2	SOX11	SALL1	F7	PAX6	MYC	FLI1	GATA4	PTPN12	BMPR1A	SALL4	INSR	DDB1	DICER1	BMP15	NSMF	AAGAB	SLC26A9	WNT3	FSHR	MRE11	PI4KA	B3GLCT	WNT9B	SLC6A17	MXI1	CDKN2A	SLC6A14	GATA3	COMT	POR	BAZ1B	VHL	ELN	CCDC28B	SF3B4	PHF6	MAP3K1	GNRH1	MLH1	AKT2	RIPK4	SLC35A2	WNT4	SEC24C	FIGLA	IFT27	DCC	PROK2	SMAD3	FEZF1	RELA	MSH3	EIF4H	COX7B	ZSWIM7	TLR2	CHEK2	KIF14	IL17RD	IL17RA	ERCC4	TTC8	BUB1B	BSCL2	SEMA4A	ERCC6	FGF8	SOHLH1	CFTR	LFNG	RNF43	PHKG2	NR2F2	SCAPER	SRCAP	TGFB1	BBS4	HLA-DPA1	ZPR1	CEP290	PRKN	BARD1	IRF6	PRKAR1A	LEP	PROKR2	THOC6	CXCR4	CEACAM3	COL5A1	APC	CCNQ	STX1A	KCNQ1OT1	CAV1	PLA2G2A	IDH2	DACT1	BUB1	FANCC	SDHC	BAX	STRA6	HSD17B4	TERC	PRKACB	BRD4	MBD4	CLDN2	WNT7A	FOS	TNXB	POLR1C	PHKA2	SOX3	PAX3	BBS10	BBS12	MRPS22	RNU12	SEMA3A	TGFBR1	SLC9A3	CTBP1	METTL27	HDAC8	ARID1B	POLD1	MYRF	CLCA4	CLEC7A	LZTFL1	FGFRL1	IPO8	NHP2	STK11	FAN1	GTF2IRD1	NOP10	IFT80	KISS1	TINF2	FANCL	PMM2	GTF2H5	EPCAM	RTEL1	SLC34A2	CTLA4	TRAIP	BCL7B	WDPCP	CFAP418	NCF1	HOXA13	SPINT2	DMRT1	BBS1	DHCR7	PSMB8	EPHB2	MPLKIP	PPARG	PTPN11	UBR1	ARHGAP31	SDCCAG8	CDKN1B	HGD	DCTN4	RFC2	CC2D2A	USB1	FANCD2	RECQL4	PRLR	TBL2	RABL3	IL10RB	IGF2	PDGFRL	POLR3H	TACR3	PLIN1	TAC3	MCM8	GTF2I	RAD51D	DYNC2I2	FANCI	SUFU	FLRT3	IL17F	TOE1	COL1A1	ZMYM2	PHGDH	KCNQ1	XRCC2	HARS2	CYB5A	BMPR1B	CBX2	NBN	ATM	DNAJC30	PTCH2	ESCO2	ERCC3	ALMS1	SETBP1	TBX6	POLE	CEP57	COL5A2	TRIM32	ANTXR2	USF3	LMNB2	BNC1	HIRA	CAPN15	OFD1	TSC1	IFT74	FLT1	PPP2R1A	VAMP7	EVC2	RBM8A	HESX1	ARL6	TARS1	DKC1	ARVCF	MCC	CIDEC	PALLD	SMC3	AXIN1	FANCF	MDM2	COL4A6	GLI1	UNG	POLR1B	CARS1	BUD23	RPS20	MMP2	ITGA8	STAG3	TYMS	HMOX1	GSTM3	CORIN	ERCC2	PPP1R12A	DYNC2LI1	RNF113A	AGPAT2	GRIP1	AURKA	SMAD4	IFT172	FANCM	ZFHX3	WNT10A	LIPE	SLX4	NAB2	BCOR	FGFR1	FLCN	NIPBL	PDE11A	BBS7	GTF2IRD2	LIMK1	RAD50	BBS9	COL14A1	PPP2R3C	ALG9	IGHG2	STOX1	TMEM270	MAMLD1	LHB	SOX10	JMJD1C	RIPPLY2	PHKB	FANCE	MSX1	FANCG	KEAP1	KLLN	PTPN22	IL17RC	HOXD13	RPS6KA3	EWSR1	GREM1	GFRA1	UFD1	EVC	MAD1L1	PRKACA	RSPO2
HP_BICORNUATE_UTERUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BICORNUATE_UTERUS	PIGN	LRP2	SRY	ESCO2	FRAS1	BRCA2	FANCB	SETBP1	GRIP1	RARB	HOXA13	FOXF1	UBE2T	FANCM	FGFR3	RIPK4	DHCR7	SLX4	TNXB	FGF10	ERCC4	FANCL	WT1	RAD51C	ALG9	FANCD2	SPECC1L	BRCA1	MNX1	MAD2L2	TBX3	FANCA	FANCI	FANCE	FANCF	FANCG	FGFR2	BRIP1	HNF1B	CCNQ	SF3B4	ITGA8	STRA6	RAD51	RFWD3	LARS2	XRCC2	FREM2	MID1	PALB2	FANCC
HP_HYPERGONADOTROPIC_HYPOGONADISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERGONADOTROPIC_HYPOGONADISM	DMRT3	ALMS1	GNAS	POLG	FOXL2	LSS	LMNA	FANCA	ZBTB20	POLR3A	FANCB	POLR1C	WT1	NR5A1	SQSTM1	SCP2	CLPP	AMACR	COQ2	LEPR	RIN2	FANCD2	ZFPM2	TYMP	NR0B1	MGME1	DCAF17	SIL1	BRCC3	VAMP7	SLC29A3	DHX37	SAMD9	ITGB6	RRM2B	GATA4	FANCE	GALK1	CYP17A1	SRY	LIG3	AHSG	BMP15	CYP19A1	WWOX	DHH	PMM2	LEP	TWNK	POLA1	GALT	FANCC	MRPS7	MRE11	SOX9	CTDP1	POLR3B	LHCGR	PRORP	CYB5A	BMPR1B	MAP3K1
HP_ABNORMALITY_OF_KREBS_CYCLE_METABOLISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_KREBS_CYCLE_METABOLISM	MT-ATP6	MT-TW	MMAB	MMAA	MT-ND1	OGDH	MT-TV	MT-ND2	FH	MT-ND4	MT-TK	MMACHC	MT-TL1	PRDX1	MMADHC	MT-ND5	FXN	MT-ND6	MT-ND3
HP_ABNORMALITY_OF_THE_THYROID_GLAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_THYROID_GLAND	MDM4	FOXP3	PMS1	MT-ND4	WDR4	CACNA1S	SMARCE1	ZIC2	VPS37D	POU1F1	NKX2-1	TREX1	SDHD	PLCH1	DEAF1	ZBTB20	ZFP57	TSHR	FOXE1	ECE1	TGIF1	CASZ1	NRAS	IPO8	RNASEH2C	MINPP1	DUOXA2	BMP4	APC	SMARCB1	NODAL	RMRP	SETD2	HFE	FMR1	PRKAR1A	CDKN1B	ENPP1	IFIH1	SIX3	SEC23B	CTNS	MAGEL2	SIX1	RRM2B	POMC	HSPG2	STEAP3	SPIB	RASGRP1	MSH2	GLI3	GP1BB	GNAS	MT-TL1	DISP1	TF	IYD	SMARCA4	SEMA3D	SMO	LHX4	GPR161	RREB1	TPO	AIP	DLL1	SPOP	HYMAI	KISS1R	GAS1	DCAF17	MT-TN	ARID1B	POLG	TMEM67	ATP7A	KCNJ2	HNF1B	NIN	STIL	SHH	RNASEH2B	RCBTB1	FOXI1	POLR3A	KCNJ10	HLA-DQB1	MLXIPL	FOXH1	ALMS1	CDH23	FGF8	LRBA	NKX2-5	TRIP13	PIEZO1	SOCS1	ABCC6	YY1	FDX2	BAP1	LEPR	CTNNB1	TBX1	PRDM16	TXNRD2	GATA6	HABP2	FKBP6	SLC26A4	FLII	FOXP1	IL12RB1	HNRNPK	RNU7-1	APC2	MT-ND6	ARID1A	NF2	LHX3	PDPN	PIK3CA	SMARCAL1	WRN	CDC73	SLC37A4	CHD7	FARSA	MMP14	ACP5	HBB	RAI1	IL12A	GNB1	CDON	MARS1	HSD17B3	GLI2	MTTP	SAA1	MT-TS2	ATP6V1B2	IMPDH2	CLIP2	NNT	SRGAP1	SRD5A3	XRCC4	IDH1	PTEN	NDN	SMARCD1	MID1	MT-TQ	EYA1	SRY	SVBP	GNA11	POU2AF1	MT-ND5	FGFR1	EXOSC2	NPHS1	BUB3	SLC25A4	TANGO2	BMP6	DNAH1	PAX8	EXT2	SDHB	SLC16A2	GABRD	ADA	SKIC3	EDNRB	GNB2	NR1H4	HID1	UBR7	POLR1D	TG	TCOF1	KMT2D	HESX1	EDN3	MRAP	SALL1	CLPB	CLCNKB	MADD	NSD1	PROP1	KCNJ18	BMPR1A	INSR	DDB1	DICER1	THRB	FANCI	TCF4	ADAMTSL1	RAG1	MSH6	PTRH2	STAR	LSM11	NR4A2	SLC6A17	MMP23B	CDKN2A	TRMT10A	COMT	POLR3GL	BAZ1B	AFF4	OCA2	ELN	HLA-DQA1	MPI	RBM28	SASH1	SNRPN	IL18BP	FUT8	SEC24C	OTX2	MOGS	PRKCD	TRAF7	DCLRE1C	EIF4H	SECISBP2	FLCN	DNM1L	FGF13	SEMA4A	SUGCT	SMC1A	MT-TF	AIRE	KLF1	CDKN1A	SOX11	PLVAP	IGF2	MEN1	JAK1	MC2R	THRA	DUOX2	PCSK1	LEP	STUB1	GRM7	TRPV6	FOXA2	PLCG2	SIM1	TRAPPC9	LMNA	IDH2	FAS	DACT1	BUB1	EIF2AK3	SDHC	CTLA4	ARNT2	TSC2	SLC12A3	LIG4	ADAT3	ADCY5	ITCH	RPL10	TSC1	ABCC8	TSHB	STAT1	HMGA2	SUFU	POLR1C	WDR11	SOX3	IL7R	FOXD3	MALT1	PTCH1	SPEN	C1S	KDM6A	MSTO1	METTL27	DMXL2	TDGF1	PLAGL1	SKI	TWNK	PI4KA	WFS1	TRHR	ZFAT	PHF21A	SCN4A	MT-TH	KATNIP	TONSL	FAN1	STAT5B	GTF2IRD1	BUB1B	HLA-DRB1	PMM2	RET	CEP57	IRF4	GLIS3	KRAS	ERBB2	CACNA1C	PDGFB	JAG1	IL2RG	GRIN2B	CDKN2B	HRAS	TIAM1	SLC5A5	ABCB11	CPE	BCL7B	GPR35	NRTN	GRIA1	NCF1	GDNF	MLH1	ABCD1	PPP1R15B	IQSEC2	ERBB3	LUZP1	AKT1	UBR1	BRAF	DYRK1A	RFC2	FASLG	KAT6B	TBL2	GATA1	TBL1X	CASR	MCM8	GTF2I	TNPO3	TP53	KCNAB2	YRDC	CCBE1	PLAA	SEMA3C	SMARCC2	BICRA	ROBO1	TNFSF15	CDKN2C	STX1A	HPD	LIFR	DNAJC30	TBC1D24	TBX2	TTC7A	RERE	B4GALT1	SGPL1	C1QBP	RNASEH2A	USF3	TERT	HIRA	KARS1	PLAG1	DDOST	STAG2	MT-CO1	MSH3	PRKCZ	SETBP1	IRS4	PROKR2	SREBF1	SOX4	SKIC2	ANAPC1	MT-TL2	RAG2	ARVCF	APOE	FOCAD	IFNG	ALG2	NLRP1	PRIM1	MDM2	ASH1L	LRP4	GCH1	POLR1B	BUD23	BIRC3	IL6ST	GNE	POU3F4	EPCAM	RPS20	PDE4D	IRF5	MMP2	NEXMIF	TRH	ARL6IP6	ARID2	CDKN1C	TGFBR2	MST1	PMS2	CYP27A1	MMEL1	DIO1	CHEK2	KANSL1	MT-CO2	UBE4B	KMT2B	STAT3	BCOR	SASH3	ALG8	B3GLCT	CASP10	KCNJ11	GTF2IRD2	LIMK1	USP9X	OPA1	ATP11A	DPF2	ADA2	MLH3	SAMHD1	ADAR	TOM1	TMEM270	SEMA4D	IGSF1	IL2RA	ABCB4	BCL10	ATP8B1	JMJD1C	PDE11A	NSDHL	POLG2	ALX4	PIK3C2A	KEAP1	KLLN	MT-CO3	MT-TW	BTNL2	GREM1	DNAJC19	TBCK	UFD1	GABRA3	FUCA1	MT-ND1
HP_DELAYED_PUBERTY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_PUBERTY	BRD4	NLRP3	EIF5A	CYP11A1	PNPLA6	CCDC141	FGF17	SEMA3E	CUL4B	SNRPN	DEAF1	CENPT	ZBTB20	FGF8	STAT1	MKRN3	CHD7	NR5A1	AR	PSMC3IP	PHKA2	WDR11	FGD1	NUP107	ZFPM2	MRPS22	SOX3	RBM28	SEMA3A	DCC	RAB18	BRCC3	CTNS	MAGEL2	POMC	HDAC8	ZMPSTE24	TGFB1	PHF21A	GLA	BTK	COL7A1	FAM111B	CYP17A1	TBX3	SRY	STAT5B	SPIDR	GPR161	WWOX	AIP	DNM1L	GHR	KISS1	LGR4	SMC1A	DCAF17	PRDM13	YARS2	TBC1D20	CPE	HS6ST1	HLA-DQB1	CDH23	VPS13B	NDP	DUSP6	TRIP4	POLR3B	RAB3GAP2	PPP1R15B	IQSEC2	WFS1	CTNNB1	LHX4	GLI2	WT1	PTPN11	BRAF	FLII	ATAD3A	NR0B1	IGFALS	MSMO1	SLC25A13	BMP15	POLR3H	TACR3	TAC3	NDNF	SLC37A4	ENTPD1	GNRH1	ANOS1	SPRY4	RAI1	EIF2S3	FLRT3	GBA1	SCARB2	HERC2	GNRHR	INSR	SOX9	ROBO1	ESR1	NDN	CYB5A	LMNA	OCA2	LPIN2	ATM	NPAP1	RAD21	DMRT3	PROK2	ALMS1	PUS1	FGFR1	SNORD115-1	SPTBN1	PTRH2	EXT2	SLC12A3	PWRN1	BNC1	SLC29A3	POLR3A	SNORD116-1	PWAR1	PROP1	GMNN	HESX1	SOX11	PROKR2	VAMP7	DHX37	POR	CLCNKB	ALDOA	GATA4	SMPD1	RPL10	SMC3	NSMF	CISD2	FSHR	PEX10	TRMT10A	POLR3GL	FSHB	MAP3K1	PHF6	HLA-DQA1	HBB	ZSWIM7	RAB3GAP1	OTX2	MEN1	NOTCH2	MMP1	CDON	FEZF1	STAT3	NIPBL	TAF13	TCF12	IL17RD	POF1B	USP9X	G6PC1	NF1	LEPR	KISS1R	TOM1	CARS1	OCRL	PHKG2	LHB	SOX10	NONO	PGM1	PYGL	ALX4	GHSR	PCSK1	STUB1	POU1F1	SALL1	FOXA2	GALT	DACT1	MAP3K7
HP_HYPERINSULINEMIC_HYPOGLYCEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERINSULINEMIC_HYPOGLYCEMIA	HNF4A	MPI	KCNJ11	KLF11	BLK	MAFA	HNF1A	TRMT10A	GCK	INSR	FOCAD	ABCC8	INS	MEN1	CEL	GLUD1	UCP2	HADH	PAX4	SLC16A1	CDKN1B	PDX1	YY1	APPL1	NEUROD1
HP_ABNORMALITY_OF_THE_PARATHYROID_GLAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PARATHYROID_GLAND	VDR	GNAS-AS1	COL4A5	MT-ND4	GNAS	NSUN2	MT-ND5	ESS2	TBX2	CYP27B1	DGCR2	CDC73	PTH1R	STX16	GCM2	PRMT7	HIRA	MEN1	SLC26A4	MT-CO1	CASR	CDKN1B	TBX1	RET	FAM111A	CLCNKB	MT-TH	GP1BB	MT-TL1	ARVCF	DGCR8	LIG4	PLEKHM1	ATP7B	RREB1	AIRE	PTH	IFNG	TSC1	TBCE	DGCR6	PDE4D	AP2S1	GATA3	CDKN2B	COMT	IRX5	FOXI1	HBB	KCNJ10	SEC24C	NF1	PTEN	KL	CLDN10	MT-CO2	PRKAR1A	PIGT	NKX2-1	FLCN	TSC2	ACTG2	SLC12A1	MT-TF	YY1	CDKN1A	HADHB	OCRL	MT-ND6	ARMC5	CHD7	JMJD1C	HADHA	CYP2R1	MT-TS2	MT-CO3	IDH1	MT-TW	CDKN2C	IDH2	CA2	MT-TQ	UFD1	GNA11	MT-ND1	SLC12A3
HP_HYPOPARATHYROIDISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPARATHYROIDISM	HBB	COL4A5	MT-ND4	NSUN2	MT-ND5	ESS2	TBX2	SEC24C	DGCR2	PTH1R	TBCE	GCM2	MT-CO2	PIGT	NKX2-1	TBX1	HIRA	MT-CO1	MT-TF	AIRE	FAM111A	HADHB	MT-ND6	MT-TH	GP1BB	MT-TL1	ARVCF	DGCR8	CHD7	JMJD1C	HADHA	LIG4	ATP7B	RREB1	PTH	MT-TS2	MT-CO3	DGCR6	MT-TW	GATA3	COMT	MT-TQ	IRX5	UFD1	MT-ND1
HP_INSULIN_RESISTANT_DIABETES_MELLITUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INSULIN_RESISTANT_DIABETES_MELLITUS	HNF4A	PLIN1	AKT2	KCNJ11	BLK	ALMS1	GCK	AGPAT2	PLAGL1	ABCC8	HYMAI	STAT3	LMNA	ZFP57	LIPE	INSR	PTF1A	CEL	LEPR	ZMPSTE24	BSCL2	CNOT1	GATA6	PDX1	PPARG	APPL1	NEUROD1	INS	NSMCE2	KLF11	HNF1A	CIDEC	EIF2AK3	XRCC4	LEP	PIK3R1	PAX4	DCAF17
HP_PRIMARY_HYPOTHYROIDISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMARY_HYPOTHYROIDISM	TOM1	STAT1	ALMS1	DDOST	CTNS
HP_ABNORMALITY_OF_THE_ADRENAL_GLANDS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ADRENAL_GLANDS	NR3C1	CYP11B1	PLXND1	CYP11A1	SDHB	SMARCE1	IARS2	ABCC6	SEMA3E	GATB	SNRPN	ZNRF3	VHL	PRKAR1A	CLCNKB	LIPA	MKRN3	PEX3	LTBP4	NR5A1	CYP11B2	HYLS1	LMNA	KCNJ5	TERT	POLR1C	WDR11	SCNN1G	BMP4	APC	ZFPM2	WASHC5	DNMT3A	PROP1	CYP17A1	RBM28	CDKN1B	PEX5	RET	CLCNKA	MAGEL2	WNT3	TP53	POMC	QRSL1	STEAP3	PEX10	AAAS	TCTN3	CUL3	GLI3	GNAS	TBC1D7	ADH5	FH	SRY	SMO	BSND	MEN1	HLA-DRB1	LHX4	ZMPSTE24	GPR161	WWOX	POR	NDUFAF5	AIP	KCNJ1	MAX	PEX1	PDGFB	CDKN2B	MTHFR	VANGL2	PEX6	WNK4	HTR1A	CDH23	HSD11B2	ARMC5	HSD17B4	STAR	PEX19	WNT4	USP8	ABCD1	NFKB2	BAP1	CTNNB1	WT1	AKT1	TXNRD2	MKS1	BRAF	SLC12A1	NKX2-6	KLHL3	NR0B1	YY1	CCND1	PEX13	SDHD	NF1	NF2	IGF2	MC2R	HBB	CLCN2	MCM4	PEX12	SAA1	ATP6V1B2	HERC2	NNT	SERPINA6	MRPS7	PEX11B	USP48	SOX9	IDH1	ROBO1	PTEN	SDHA	CDKN2C	KCNQ1	NDN	SLC26A3	PEX16	ENPP1	OCA2	CDKN1C	NPAP1	TBC1D24	DMRT3	CACNA1S	SNORD115-1	WNK1	KCNJ10	NR3C2	SGPL1	CACNA1H	ANTXR2	POLE	PWRN1	SCNN1A	PIK3CA	CHD7	TMEM127	KCNJ11	SMARCB1	HSD3B2	MDH2	PDE8B	POLR1D	SNORD116-1	TCOF1	TBX19	PWAR1	HESX1	PROKR2	MRAP	VAMP7	DHX37	SAMD9	PDE11A	GATA4	SDHC	GK	SLC25A11	INSR	EPAS1	KCNE3	GATC	MDM2	AIRE	KCNJ16	KIF1B	POLR1B	SCNN1B	NFS1	PEX2	CDKN2A	SIX3	MAP3K1	CCDC22	TRAPPC11	MRPS25	SCN4A	TNXB	CACNA1D	PEX14	ATRX	KCNJ2	PRKACA	CDON	TRAF7	CHEK2	SUFU	KANSL1	BCOR	PEX26	CDKN1A	OCRL	NSDHL	PCSK1	CILK1	GMPPA	KCNQ1OT1	BTNL2	IDH2	TBCK	DLST	SDHAF2	CYP21A2	SLC12A3
HP_ADRENAL_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADRENAL_HYPOPLASIA	CCDC22	TBX19	CDKN1C	CYP11A1	TNXB	WASHC5	GLI3	TBC1D7	ADH5	NSDHL	POMC	CDON	LTBP4	POLE	ZMPSTE24	GPR161	LMNA	WDR11	LHX4	CILK1	BMP4	PEX1	MKS1	ROBO1	HESX1	NR0B1	PROKR2	SIX3	MTHFR	VANGL2
HP_HYPERTHYROIDISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTHYROIDISM	FOXP3	POLR3A	PIK3CA	RRM2B	FMR1	TSHR	CACNA1S	CLCNKB	SEC24C	SLC25A4	GP1BB	GNAS	ARVCF	THRB	KCNJ18	JMJD1C	POLG2	HLA-DRB1	RREB1	HIRA	TBX1	TWNK	MSTO1	CDH23	SUGCT	BTNL2	POLG	KCNJ2	COMT	TBCK	UFD1	PTEN	GABRA3	AKT1	SLC12A3
HP_INCREASED_CIRCULATING_GONADOTROPIN_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_GONADOTROPIN_LEVEL	FSHR	NANOS1	SRY	CYP11A1	DMRT3	PNLDC1	SHOC1	FSHB	KLHL10	TAF4B	DHH	NR5A1	ZMYND15	AR	BNC1	PSMC3IP	FGD1	NUP107	ZFPM2	MRPS22	NR0B1	GCNA	SYCP3	FMR1	VAMP7	DHX37	TDRD9	POR	GATA4	CYP17A1	MSH4	NSMCE2	CNBP	SPIDR	SOHLH1	WWOX	CBX2	KISS1R	LHCGR	LARS2	FANCM	STAG3	TEX14	MAP3K1	ZSWIM7	CCDC34	ESR2	FOXL2	TEX15	FIGLA	SYCE1	GDF9	ESR1	HFM1	C14orf39	WT1	ERCC6	PPP2R3C	MCM9	XRCC2	MEIOB	FKBP6	BMP15	POLR3H	TEX11	LHB	MCM8	MSH5	DIAPH2	POLA1	CFTR	SOX9	CDH23	CYB5A	BMPR1B	HSD17B4
HP_PITUITARY_DWARFISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PITUITARY_DWARFISM	LHX3	POU1F1	LHX4	HESX1	GLI2	FOXA2	SOX3	PROP1	OTX2	GH1
HP_HYPERACTIVE_RENIN_ANGIOTENSIN_SYSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERACTIVE_RENIN_ANGIOTENSIN_SYSTEM	SLC12A1	KCNJ1	SLC26A3	CLCNKB	NR3C2	BSND	SCNN1A	CLCNKA
HP_HYPERPARATHYROIDISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPARATHYROIDISM	KCNJ10	VDR	RET	OCRL	CDC73	MEN1	CYP27B1	ARMC5	CASR	GCM2	CLDN10	PLEKHM1	CDKN1B	CYP2R1	GNAS	SLC26A4	ACTG2	AP2S1	CDKN2C	SLC12A1	CDKN2B	CA2	YY1	GNA11	FOXI1	CDKN1A
HP_ELEVATED_CIRCULATING_GROWTH_HORMONE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CIRCULATING_GROWTH_HORMONE_CONCENTRATION	MEN1	CDH23	HPGD	GNAS	AIP	PDE11A	GPR101	PRKAR1A	CDKN1B	KCNJ11	IGF1	PMM2	SLCO2A1	CDKN2C	CDKN2B	CDKN1A
HP_ADRENAL_INSUFFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADRENAL_INSUFFICIENCY	NR3C1	NPAP1	CYP11A1	DMRT3	SMARCE1	IARS2	GATB	SNORD115-1	SNRPN	NR3C2	SGPL1	LIPA	MKRN3	PEX3	PWRN1	NR5A1	CYP11B2	PEX11B	PIK3CA	TERT	SCNN1G	SMARCB1	ZFPM2	NR0B1	SNORD116-1	PROP1	TBX19	GLI3	RBM28	PWAR1	PEX12	ABCD1	PEX5	MRAP	VAMP7	DHX37	MAGEL2	SAMD9	POMC	QRSL1	STEAP3	PEX10	POR	AAAS	TCTN3	GATA4	BAP1	GK	SRY	PEX19	SMO	LHX4	WWOX	GATC	NDUFAF5	AIP	AIRE	STAR	NFS1	PEX2	PDGFB	HSD3B2	HSD11B2	OCA2	MAP3K1	HBB	TRAPPC11	PEX6	MRPS25	CDH23	HSD17B4	MEN1	PEX13	CYP11B1	PEX14	TRAF7	SUFU	PEX16	KANSL1	BCOR	NFKB2	PEX26	CTNNB1	WT1	AKT1	NDN	TXNRD2	BRAF	PEX1	NF2	SCNN1B	MC2R	PCSK1	MCM4	SAA1	HERC2	NNT	SERPINA6	MRPS7	GMPPA	SOX9	CYP17A1	TBCK
HP_ABNORMALITY_OF_RENIN_ANGIOTENSIN_SYSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_RENIN_ANGIOTENSIN_SYSTEM	CYP11B1	CYP11A1	CACNA1D	MEN1	HSD11B2	NR3C2	SCNN1B	KCNJ10	CYP11B2	KCNJ5	INSR	SLC12A3	SCNN1G	CLCNKB	SCNN1A	BSND	KCNJ16	KCNJ1	AVPR2	CDKN2C	SLC12A1	CYP17A1	CASR	CDKN2B	CDKN1B	SLC26A3	HSD3B2	POR	CDKN1A	CLCN2	MAGED2	CLCNKA
HP_INCREASED_CIRCULATING_RENIN_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_RENIN_LEVEL	KCNJ16	KCNJ1	SCNN1B	CYP11A1	NR3C2	KCNJ10	CYP11B2	SLC12A1	CASR	INSR	SLC12A3	SCNN1G	SLC26A3	HSD3B2	CLCNKB	SCNN1A	MAGED2	BSND	CLCNKA
HP_ADRENOCORTICAL_ABNORMALITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADRENOCORTICAL_ABNORMALITY	PRKAR1A	PDE11A	PLXND1	MEN1	PDE8B	GK	CDKN2C	NKX2-6	PRKACA	ABCD1	CDKN2B	CDKN1B	CDKN1A
HP_CONGENITAL_HYPOTHYROIDISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_HYPOTHYROIDISM	TBC1D24	TPO	NKX2-5	MC2R	THRA	IYD	PAX8	NNT	GNB1	TONSL	DUOX2	YRDC	PRKAR1A	ADAMTSL1	PLAA	B3GLCT	NKX2-1	ATP6V1B2	STAR	GLIS3	TXNRD2	PDE4D	TG	GATA6	SLC5A5	TSHB	TRAPPC9	KDM6A	KMT2D	DUOXA2	MRAP	FOXE1	TSHR
HP_PSEUDOHYPOPARATHYROIDISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSEUDOHYPOPARATHYROIDISM	GNAS	STX16	GNAS-AS1	PRMT7	PDE4D	PRKAR1A
HP_GOITER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GOITER	KCNJ10	PIK3CA	TPO	SASH1	CACNA1S	ALMS1	SLC25A4	TSHR	DNAH1	SDHD	SDHB	IYD	TSHB	SLC26A4	DUOX2	FOXE1	USF3	PTEN	NKX2-1	MINPP1	DUOXA2	HABP2	SEC23B	TG	SUGCT	AKT1	CDKN1B	THRB	CDKN1A	SIX1	DICER1	RRM2B	MEN1	RET	GNAS	PDE11A	MMP14	POLG2	PAX8	KCNJ18	PRKAR1A	TWNK	KEAP1	KLLN	FOXI1	MMP2	IDH1	SLC5A5	CDH23	CDKN2C	POLG	CDKN2B	IDH2	EYA1	SDHC	RCBTB1
HP_THYROID_ADENOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THYROID_ADENOMA	PIK3CA	CASP10	MEN1	CDC73	RASGRP1	MSH3	PRKCD	CDKN1B	FAS	PTEN	FASLG	AKT1
HP_INSULIN_RESISTANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INSULIN_RESISTANCE	HNF4A	PAX4	PTPN1	ERCC6	KCNJ11	ALMS1	GCK	PLAGL1	ABCC8	HYMAI	STAT3	LMNA	ZFP57	IL6	FOS	HNF1B	LMNB2	ZMPSTE24	BSCL2	CNOT1	CAV1	HNF1A	XRCC4	PDX1	PPARG	APPL1	LIPE	NEUROD1	KLF11	ARL6	CLCNKB	POLD1	INSR	GRB10	RETN	NSMCE2	PPP1R3A	CIDEC	ADCY3	INS	EIF2AK3	DBH	HSD11B1	IRF4	HMGA1	PIK3R1	IRS1	PMM2	LEMD2	DCAF17	SLC30A8	CYP19A1	BLM	ENPP1	MTX2	CCDC28B	PLIN1	AKT2	BLK	IGF2BP2	AGPAT2	MAPK8IP1	PTF1A	CEL	LEPR	GATA6	IGF1	WFS1	LIPC	TCF7L2	IGFALS	IRS2	MFN2	WRN	GPD2	LEP	CEP19	BBS1	MTNR1B	CAVIN1	SLC2A2	SLC12A3
HP_NEONATAL_INSULIN_DEPENDENT_DIABETES_MELLITUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_INSULIN_DEPENDENT_DIABETES_MELLITUS	HNF4A	INS	HYMAI	KCNJ11	KLF11	BLK	HNF1A	GCK	PLAGL1	ABCC8	STAT3	ZFP57	PTF1A	CEL	CNOT1	PAX4	GATA6	PDX1	APPL1	EIF2AK3	NEUROD1
HP_IRREGULAR_MENSTRUATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRREGULAR_MENSTRUATION	FOXL2	CIDEC	PRKAR1A	CDKN1C	PHKG2	IGF2	PDE11A	BBS9	ALMS1	SETD2	CDH23	ERAL1	ARMC5	MEN1	LMNA	GNAS	AIP	CYP17A1	SLC37A4	PRKACA	C14orf39	PHKB	PSMB8	PDE4D	HMGA2	PHKA2	CYP11B1	GPR101	PDE8B	PLAG1	SOST	ERCC8	PPARG	NR3C1	ANTXR1	FMR1	CYB5A	HSF2BP
HP_HYPERALDOSTERONISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERALDOSTERONISM	OCRL	CYP11B1	CACNA1D	CLCNKB	NR3C2	ARMC5	KCNJ10	KCNJ5	KCNJ2	ZNRF3	INSR	SCNN1G	CLCN2	TP53	PRKAR1A	CACNA1H	BSND	SCNN1A	KCNJ16	TERT	KCNJ1	SCNN1B	CYP11A1	GNAS	CLCNKA	CDKN2A	SLC12A1	CTNNB1	SLC26A3	CYP11B2	SLC12A3
HP_CENTRAL_DIABETES_INSIPIDUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_DIABETES_INSIPIDUS	WFS1	ZIC2	GLI2	FGF8	TDGF1	CTNNB1	SHH	DLL1	NODAL	BRAF	AVP	STIL	FOXH1	CDON	TGIF1	DISP1	SIX3	PTCH1	TP63	GAS1
HP_ABNORMALITY_OF_THE_HYPOTHALAMUS_PITUITARY_AXIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_HYPOTHALAMUS_PITUITARY_AXIS	PMS1	FGF8	CYP11A1	WDR4	SMARCE1	PNPLA6	DLL1	FGF17	ZIC2	IARS2	SEMA3E	CTSK	FANCB	PNLDC1	POU1F1	SHOC1	NDE1	PLCH1	KIAA0753	UBE2T	KLHL10	TAF4B	TGIF1	ZMYND15	GAN	OTX2	AIP	AR	TERT	BMP4	NUP107	PITX2	ZFPM2	NODAL	WASHC5	PRKAR1A	FMR1	CDKN1B	IGF2	BRCC3	SIX3	MAGEL2	RNF113A	POMC	STEAP3	MSH2	AAAS	BTK	GLI3	GNAS	CBY1	CYP17A1	DISP1	PSMC3IP	SRY	CNBP	SMO	DBH	SPIDR	MEN1	CCDC141	GPR161	WWOX	TMEM237	CSPP1	KISS1R	GAS1	HS6ST1	DCAF17	TMEM67	GLI2	LARS2	FANCM	PALB2	STIL	SHH	CEP290	POLR3A	TPO	FOXH1	ALMS1	BRCA2	CDH23	PRTN3	DUSP6	IYD	RRM2B	TP63	C14orf39	USP8	YY1	NFKB2	BAP1	HYLS1	TMEM218	LEPR	CTNNB1	WT1	HLA-DPB1	GATA6	ARNT2	CC2D2A	RAD51C	FLNB	MCM9	FGFR1	DUOXA2	APC	KMT2A	GPR101	SOX3	TSHR	FOXL2	MKS1	NF2	LHX3	FANCF	TEX11	NR5A1	MAD2L2	CEP41	NDNF	CHD7	FARSA	FANCA	ANOS1	SPRY4	EIF2S3	MSH5	CDON	SUFU	BRIP1	PKD1	USP48	SRD5A3	IDH1	RFWD3	NDN	ZNF148	MT-TL1	DMRT3	SNORD115-1	COG2	SRPX2	ERF	PWRN1	TMEM216	EDA2R	ADNP	GNB2	KCNJ11	LHX4	SMARCB1	HID1	PDE8B	NR0B1	TG	PWAR1	GMNN	HESX1	SRP54	MAP2K2	BRCA1	GATA4	MADD	PROP1	ZNF423	GRB10	ALX3	CEP120	FANCI	MTHFR	FSHR	MSH6	TBCE	PREPL	VPS13B	DHX37	SLC7A7	TCTN1	POLR3GL	FSHB	AFF4	OCA2	HBB	CCDC34	RBM28	DNAJB11	SNRPN	NANOS1	FIGLA	SYCE1	SLC16A2	ATRX	RPGRIP1L	HFM1	TRAF7	FEZF1	ZSWIM7	SECISBP2	IGF1	IL17RD	ERCC4	BMPR1A	ZSWIM6	TCTN2	SEMA4A	SMC1A	DYRK1A	EFL1	THRB	SLC29A3	CDKN1A	PRLR	ARMC5	HLA-DPA1	EDA	NONO	DUOX2	PCSK1	LEP	PROKR2	POLA1	GRM7	FOXA2	KIAA0586	NKX2-1	GH1	MPDU1	XRCC2	SIM1	IDH2	WDR11	FANCC	SMARCAL1	ESCO2	HSD17B4	GHSR	ADAT3	KATNIP	ACP5	ZNRF3	TSHB	PKD2	MKRN3	DHH	RNPC3	FGD1	MRPS22	AVP	SLCO2A1	GCNA	SEMA3A	PTCH1	DCC	MSTO1	AHI1	INPP5E	TDGF1	PIBF1	ARMC9	TP53	STX16	TDRD9	TRHR	THOC2	HPGD	TBX3	FAN1	PAX8	PI4KA	CEP57	IFNG	KRAS	PMM2	LHCGR	PDGFB	CDKN2B	CTLA4	TEX14	CPE	ESR2	TEX15	GDF9	MLH1	PSMB8	WFS1	AKT1	SIN3A	BRAF	FANCD2	PIK3CA	CPLANE1	TMCO1	TBL1X	ARL13B	BMP15	POLR3H	RRAS2	RNF216	MCM8	TACR3	FLRT3	MCM4	MED12	MARS2	HERC2	DIAPH2	MRPS7	SOX9	ROBO1	DMXL2	CDKN2C	TMEM231	CYB5A	BMPR1B	NPAP1	PROK2	TBX2	ADGRG1	CDC42BPB	POLE	BNC1	STAG2	SNORD116-1	SLC35A2	IRS4	SYCP3	TOGARAM1	ABCD1	GANAB	VAMP7	B9D2	SBDS	TBX19	FOXC1	PDE11A	POR	SOX2	PUF60	MSH4	NSMCE2	NR3C1	SOHLH1	PDGFRB	CBX2	APOA5	MT-ATP8	TSC1	POU3F4	EPCAM	RPS20	PDE4D	SLC5A5	CEP104	HSD3B2	STAG3	ALG5	TRH	MAP3K1	NPHP1	TRAPPC11	ARL3	TGFBR2	SIX6	PMS2	TMEM138	ESR1	PRKACA	SLX4	VANGL2	KANSL1	STAT5B	ERCC6	TTC26	B3GLCT	DNAJC21	TSC2	FANCL	CDKN2A	PPP2R3C	ANK1	MLH3	MEIOB	FKBP6	CDKN1C	IGSF1	BICC1	LHB	SOX10	FANCE	FANCG	KCNJ18	IFT140	GHRHR	CFTR	GMPPA	PTPN22	VSX1	RAD51	ALG9	B9D1	TBCK
HP_DECREASED_FERTILITY_IN_FEMALES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_FERTILITY_IN_FEMALES	ZMYND10	DMRT3	DNAJB13	BLM	LRRC56	NR5A1	ZP2	GAS8	BTG4	DNAAF4	TUBB8	OFD1	RSPH3	BSCL2	ZFPM2	DNAL1	NR0B1	STK36	ODAD4	CFAP300	VAMP7	PATL2	DHX37	HSF2BP	FBXO43	GATA4	CYP17A1	PSMC3IP	MSH4	CCDC65	SRY	DNAAF3	REC114	WEE2	TLE6	WWOX	AIP	DNAAF1	TRIP13	ODAD3	FOXJ1	CCDC40	NME8	CYP19A1	ODAD2	DNAI2	DNAH1	DNAH5	MAP3K1	ASTL	DNAH9	SPAG1	FOXL2	CDH23	ZP1	TTC12	FIGLA	MEN1	AGPAT2	GGPS1	DNAAF11	RPGR	DNAI1	DNAH11	CFAP221	RSPH4A	NEK10	WT1	POF1B	HYDIN	SPEF2	CFAP298	RSPH1	MEI1	C11orf80	CCDC103	MCIDAS	CCNO	RSPH9	ZP3	PANX1	GAS2L2	DNAAF2	DNAAF6	PGR	MSH5	DNAAF5	SOX9	GALT	DRC1	CCDC39	ODAD1	CYB5A
HP_SECONDARY_AMENORRHEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SECONDARY_AMENORRHEA	GNRH1	HS6ST1	ZSWIM7	POLG	FOXL2	ERAL1	FIGLA	NR5A1	HAMP	ATRX	TKT	LMNA	C14orf39	USP8	PSMD12	PROK2	CHD7	DUSP6	ERCC6	BNC1	PSMC3IP	NUP107	MRPS22	PPARG	EIF2B1	FGF8	WDR11	NOBOX	FGFR1	KISS1R	SPRY4	HSF2BP	EIF2B4	TP53	TBL1X	EIF2B2	BMP15	POLR3H	TACR3	FGF17	LHB	TAC3	WRN	BRAF	MSH4	PRKAR1A	EIF2B3	SPIDR	EIF2B5	NSMF	PAPSS2	NR3C1	CDH23	FSHR	DIAPH2	GNRHR	KISS1	PROKR2	USP48	GALT	LARS2	RCBTB1	BPTF
HP_INCREASED_CIRCULATING_PROLACTIN_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_PROLACTIN_CONCENTRATION	PRLR	POLR3A	MEN1	NF2	SMARCE1	TRHR	BAP1	GNAS	PDE11A	TSHB	SMO	GPR101	TRAF7	SUFU	AIP	PIK3CA	PRKAR1A	TERT	CTNNB1	SMARCB1	AKT1	MSTO1	BRAF	CDH23	PMM2	PDGFB
HP_PANHYPOPITUITARISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANHYPOPITUITARISM	DISP1	FGFR1	ZIC2	POU1F1	TGIF1	STIL	PLCH1	SOX3	LHX4	PTCH1	DLL1	SUFU	SHH	GAS1	NODAL	GLI2	CDON	STAG2	PROP1	GLI3	TDGF1	SIX3	RNF113A	FGF8	MADD	KATNIP	FOXH1	HESX1	SMC1A	LHX3	GRM7
HP_HASHIMOTO_THYROIDITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HASHIMOTO_THYROIDITIS	PI4KA	CLCNKB	ITCH	IL18BP	TBX2	TTC7A	FOXD3	SEC23B	PLCG2	PTEN	C1S	POLG	ADA2	CDKN1B	CTLA4	DCLRE1C	SLC12A3
HP_DIABETES_INSIPIDUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIABETES_INSIPIDUS	ZIC2	DISP1	FGF8	SHH	DLL1	FGFR1	STIL	PLCH1	CNOT1	TGIF1	STRADA	WDR11	LHX4	GAS1	NODAL	AVP	GLI2	CDON	STAG2	AVPR2	PTCH1	HESX1	PROKR2	TDGF1	SIX3	WFS1	ARL6	SOX2	GLA	AQP2	PTEN	ALX3	HLA-DRB1	CISD2	GPR161	PTPN22	FOXH1	CTLA4	TP63	CCDC28B	AKT1	ALMS1	OTX2	PRTN3	VIPAS39	TTC26	CTNNB1	PRPS1	BRAF	HLA-DPB1	TREX1	ARNT2	SMC1A	VPS33B	SOX3	OCRL	HLA-DPA1	HLA-B	P4HA2	BBS1	ROBO1	BTNL2
HP_EPISODIC_HYPERTENSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISODIC_HYPERTENSION	VHL	MAX	LBX1	RET	TMEM127	SDHB	KIF1B	SDHD
HP_OLIGOMENORRHEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OLIGOMENORRHEA	PLIN1	NR3C1	NPAP1	AKT2	GNAS	FOXL2	SNORD115-1	ATRX	USP8	CISD2	LIPE	MKRN3	FOS	PWRN1	MAGEL2	ERCC6	PHKA2	PPARG	SNORD116-1	BSCL2	PWAR1	FANCM	PRLR	TP53	H6PD	PHKG2	LHB	BRAF	CIDEC	PHKB	MSH5	CDH23	STUB1	HERC2	RNF216	USP48	CAVIN1	GALT	CAV1	AIP	LARS2	AGPAT2	FSHB
HP_11_PAIRS_OF_RIBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_11_PAIRS_OF_RIBS	CPLANE1	SOX9	TBC1D24	HSPG2	SRCAP	RRAS2	CEP152	PDPN	CENPJ	CHST3	TOR1A	RERE	B3GALT6	ATR	LBR	GABRD	B3GAT3	KYNU	RNU4ATAC	PRIM1	KCNAB2	UBE4B	CASZ1	ATP6V1B2	SOX2	GPX4	SNRPB	PRDM16	BMP2	RPS19	ALDH1A2	SCUBE3	LUZP1	B4GAT1	NALCN	FLNB	HNRNPR	MMP23B	NFASC	PRKCZ	SPEN	HDAC6	DNMT3A	TBCK	SKI
HP_SHORT_STERNUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_STERNUM	NFIX	ARID1B	PCGF2	RBM10	SETBP1	LAMA5	GPC4	NIPBL	GPC3	BUB1B	LRP2	TMEM231	NOG
HP_THIN_RIBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIN_RIBS	SOX9	MTX2	MTMR14	LIFR	OBSL1	COL1A2	TBCE	MYF6	AIFM1	CUL7	HDAC6	LMNA	COL11A1	PPP3CA	RYR1	ACTA1	TRPV6	DNM2	NEB	FAM111A	LMOD3	SERPINH1	KLHL40	COL2A1	COL1A1	KLHL41	RTTN	POLR3A	MAMLD1	SEC24D	CHRNA1	MUSK	CHRNG	SCARF2	ORC1	P3H1	TENT5A	MTM1	ZMPSTE24	CCDC8	EXOC6B	SKI	USP18	BIN1	LAMA5	WNT1	CHRND	BANF1	PLOD1
HP_PROMINENT_STERNUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_STERNUM	RTL1	DLK1	MEG3	RMRP	BMP2	ARSB	GLB1	DYM	PRKG2	GATA6	WNT7A	GALNS	LONP1	AIFM1	ZFPM2
HP_BROAD_RIBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_RIBS	COMP	COL11A1	ARSB	DYM	SETBP1	IL1RN	KCNJ8	NEK9	TFE3	PTDSS1	GNPTAB	ABCC9	SOST	GLB1	TMEM53	AMER1	ARSK	SERPINH1	SMAD4	WNT7A	XYLT1	ADAMTS10	ATP7A	FBN1	COL11A2	PTH1R
HP_DEFORMED_RIB_CAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEFORMED_RIB_CAGE	DNAJC21	EFL1	SRP54	VDR	SLC34A3	CYP27B1	CYP2R1	SBDS
HP_CUPPED_RIBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUPPED_RIBS	DDR2	DLK1	INPPL1	SBDS	MATN3	PCYT1A	BGN	CFAP410	B3GALT6	AIFM1	ADA	DNAJC21	COL11A1	COL10A1	COL11A2	COL2A1	GPX4	MEG3	EFL1	RTL1	IHH	MMP13	SLC35D1	SRP54	UBA1	TRPV4
HP_HORIZONTAL_RIBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HORIZONTAL_RIBS	DYNC2I2	OBSL1	NEK1	DYNC2LI1	IFT81	EVC2	ABCD4	INTU	DYNC2H1	CEP120	COL2A1	EVC	WDR35	CUL7	DYNLT2B	LBR	CCDC8
HP_ABNORMAL_CLAVICLE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CLAVICLE_MORPHOLOGY	IDUA	DYNC2H1	BCOR	TBX5	CTSK	LMNA	WDR19	INPPL1	SETBP1	CDC42BPB	LBR	DYNC2LI1	SRCAP	NAA10	FIG4	FGFR2	PTDSS1	BMPR1A	COL11A1	ZMPSTE24	MEG3	RNU4ATAC	ORC1	RNU12	SALL4	INTU	FBXL3	HOXD13	MBD5	CDT1	LRP5	ATP7A	DYNLT2B	TRPV4	FKBP10	RBM8A	ORC6	DLK1	SOST	FLNA	TBX3	EFNB1	SCARF2	KIAA0586	B4GALT7	SLC26A2	TNFRSF11A	TBX15	TTC21B	DCHS1	DYNC2I2	PAX1	SKI	PTEN	NEK1	CHD4	FGFR1	FLNB	MMP2	LEMD2	WNT7A	ORC4	VAC14	TWIST1	FGFR3	MTX2	BANF1	TNFRSF11B	CDC6	IFT172	SH3PXD2B	IFT81	MSX2	DYNC2I1	BGN	GJA1	CHRNG	MYSM1	TBCE	RSPO2	EYA1	XYLT1	CDC45	IFT140	LRRK1	PTH1R	PIGL	ALX4	KIF7	RTL1	FAT4	HPGD	RUNX2	SLC35D1	PCNT	CSPP1	PORCN	MMP14	NSDHL	TRIP11	IFT80	GMNN	CEP120	AMER1	ARSK	ANTXR1	HHAT	GLI3
HP_LONG_CLAVICLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_CLAVICLES	CSPP1	DLK1	MEG3	FLNB	SETBP1	CHRNG	RTL1	KIAA0586	LBR	TBCE	HPGD	RNU4ATAC	PCNT	COL11A1	TBX15
HP_CERVICAL_RIBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVICAL_RIBS	RBM8A	GATA6	SON	PUF60	IFT57	AFF3	GPC4	GPC3	RUNX2	ANKRD11	SF3B2
HP_BIFID_RIBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIFID_RIBS	HSPG2	PTCH2	PRDM16	LUZP1	PDPN	TMCO1	MMP23B	PRKCZ	SPEN	RERE	SUFU	GABRD	KCNAB2	UBE4B	SKI	CASZ1	PTCH1
HP_SHORT_CLAVICLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_CLAVICLES	IDUA	PORCN	TBX5	SRCAP	DYNC2LI1	MSX2	LMNA	BGN	CDC42BPB	FLNA	TBX3	SCARF2	NSDHL	RUNX2	TRIP11	B4GALT7	RSPO2	FGFR2	BMPR1A	ZMPSTE24	BCOR	DCHS1	XYLT1	PTEN	CHD4	NAA10	FIG4	RNU12	SALL4	LEMD2	ALX4	FBXL3	HOXD13	FAT4	TWIST1	ATP7A
HP_LATERAL_CLAVICLE_HOOK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LATERAL_CLAVICLE_HOOK	DYNC2I1	RBM8A	DYNC2I2	SKI	NEK1	SLC35D1	IFT81	INPPL1	IFT172	CDT1	INTU	DYNC2H1	SCARF2	ORC1	DYNLT2B
HP_RACHITIC_ROSARY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RACHITIC_ROSARY	ALPL	PHEX	CYP27B1	SLC34A3	CYP2R1	SLC34A1	CTNS
HP_THICKENED_RIBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICKENED_RIBS	IDS	HGSNAT	SOST	NAGLU	GLB1	GNS	MAN2B1	SGSH
HP_RIB_FUSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIB_FUSION	CHRNG	LETM1	ODC1	CPLX1	SH2B1	TMCO1	DLL3	SON	HES7	SIX6	TBX6	FOXF1	RERE	GABRD	UBE4B	ANKRD11	CASZ1	MAP3K7	PRDM16	LUZP1	GLI3	PRKCZ	SPEN	CTBP1	MESP2	NSD2	NXN	RECQL4	SKI	LFNG	HSPG2	COG1	PDPN	SOX2	FGFRL1	RIPPLY2	PIGG	KCNAB2	MYH3	MMP23B	NELFA	ROR2	ACTB
HP_FLARING_OF_RIB_CAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLARING_OF_RIB_CAGE	IL1RN	DYM	GALNS	B3GALT6	RMRP	TRIP11	GLB1	TRPV4
HP_ANTERIOR_RIB_CUPPING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_RIB_CUPPING	COL10A1	COL2A1	DDR2	DLK1	INPPL1	MEG3	SBDS	EFL1	CFAP410	RTL1	AIFM1	SLC35D1	ADA	DNAJC21	SRP54	COL11A1
HP_SPRENGEL_ANOMALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPRENGEL_ANOMALY	RPS29	RPS20	PTCH2	TBX2	RPL27	TMCO1	RPL35A	TMEM43	COL3A1	GDF6	TBX3	FLNA	MEOX1	LMNA	RPS26	RPL26	PAX3	MAP3K7	RPS17	EMD	RPS24	SYNE2	GATA1	RPS10	BRAF	PTCH1	RPS27	TSR2	ADA2	RAF1	FHL1	RPL35	EFNB1	TBX5	SUFU	RPS28	SEPTIN9	RPS19	RPL15	GDF3	CDH2	RPS7	RPL18	PTPN11	SYNE1	RPL11	HSPG2	RPL31	NPR2	WBP11	RPS15A	RPL5	SF3B4
HP_SHIELD_CHEST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHIELD_CHEST	MAP2K1	WNT4	LZTR1	POP1	IDH1	BRAF	PTPN11	KRAS	RAB5IF	TRPV4	FUCA1	DYM	TRAPPC2	SRCAP	XYLT2	CHST3
HP_PECTUS_EXCAVATUM_OF_INFERIOR_STERNUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PECTUS_EXCAVATUM_OF_INFERIOR_STERNUM	MAP2K1	BRAF	NF1	PTPN11	SOS1
HP_BROAD_CLAVICLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_CLAVICLES	ARSK	MMP14	WNT7A	SH3PXD2B	MYSM1	TRIP11	ATP7A	SOST	MMP2	PTDSS1	PTH1R
HP_ABNORMALITY_OF_THE_COSTOCHONDRAL_JUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_COSTOCHONDRAL_JUNCTION	ALPL	DDR2	DLK1	SBDS	CYP27B1	SLC34A1	ARSL	PRKG2	SLC34A3	CYP2R1	DNAJC21	PHEX	MEG3	FGFR3	DYM	RTL1	VDR	SRP54	NOG	CTNS
HP_ENLARGEMENT_OF_THE_COSTOCHONDRAL_JUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGEMENT_OF_THE_COSTOCHONDRAL_JUNCTION	DYM	PRKG2	PHEX	SBDS	SLC34A3	CYP27B1	CYP2R1	DNAJC21	SRP54	NOG
HP_MISSING_RIBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MISSING_RIBS	CPLANE1	CCDC22	SOX9	TBC1D24	MYF5	VANGL1	FUZ	CENPJ	SIX6	TBX6	IFT43	RERE	FBN1	B3GALT6	LBR	GABRD	FLI1	KYNU	SRCAP	UBE4B	CASZ1	HES7	GPX4	PRDM16	RPS19	SCUBE3	LUZP1	PTPN11	WASHC5	B4GAT1	NALCN	NFASC	PRKCZ	SPEN	HDAC6	DNMT3A	SKI	HSPG2	BMPER	RRAS2	CEP152	PDPN	SOX2	CHST3	TOR1A	ATR	B3GAT3	RNU4ATAC	PRIM1	KCNAB2	WNT3	ATP6V1B2	SNRPB	BMP2	ALDH1A2	FLNB	HNRNPR	MMP23B	TBCK	RSPO2	ROR2	PAICS
HP_POSTERIOR_RIB_CUPPING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_RIB_CUPPING	DDR2	INPPL1	MATN3	BGN	COL11A1
HP_BEADED_RIBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BEADED_RIBS	TAPT1	LBR	PHEX	TRIP11	COL1A2	PPIB	CREB3L1	COL1A1
HP_PLATYSPONDYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PLATYSPONDYLY	EXTL3	COL2A1	MATN3	BMP1	ACP5	IFT43	TRIP11	B3GALT6	LBR	HDAC6	ACAN	EXOC6B	COL11A1	NANS	IDH1	CSF1R	CANT1	OCRL	TRPV4	SFRP4	GLB1	INPPL1	SEC24D	RSPRY1	TONSL	SLC39A13	COL11A2	TAPT1	MBTPS2	PAPSS2	XYLT2	COL9A1	TNFRSF11A	CREB3L1	GPX4	COL10A1	FGFR3	RINT1	PMM2	DYM	LAMA5	SLC29A3	HSPG2	COL1A2	LFNG	FLNA	PLOD1	ALPL	MRPS28	SPARC	DDRGK1	COL1A1	PCYT1A	BGN	PLCB3	CFAP410	LOXL3	AIFM1	FGFR1	KDELR2	FKBP10	PTH1R	SMAD4	PPIB	SLC35D1	COL9A3	NEPRO	SMARCAL1	PRKG2	TRAPPC2	AGA	ARSK	MAN2B1	LTBP3	CCN6	ADA	ABCC9	FUCA1	COG4	SLC26A2	ATP7A	RAB33B	CHST3	P3H1	FN1	KCNJ8	EIF2AK3	RPL13	PYCR1	SGMS2	NEK1	LRP5	KIF22	FLNB	SLC25A24	TCIRG1	COL9A2	UFSP2	COMP	MIA3	PLOD2	GORAB	RMRP	XYLT1	PLOD3	DHX37	TMEM53	SERPINH1	MMP13	PAM16	DDR2	IFITM5	GUSB	GALNS	RUNX2	B3GAT3	RNU4ATAC	IDH2	WNT1
HP_ABNORMALITY_OF_SKELETAL_MATURATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SKELETAL_MATURATION	CYP11A1	WDR4	MECP2	FGF17	VPS37D	ABCD4	DPP6	CUL7	GPC4	ZNF699	KISS1R	AIP	NUP107	SMARCB1	RNU4ATAC	ZFPM2	ORC1	SETD2	EXTL3	MVK	PRKAR1A	IGF2	CDT1	TRPV4	NSD2	CTNS	POMC	FAM111A	BTK	RSPRY1	LONP1	GNAS	CYP17A1	SMARCA4	GLI3	SRY	PTPN11	FBN1	TET3	LIG4	SPIDR	MBTPS2	ZEB2	ANKRD11	RECQL4	EXT1	B4GALT7	LHX4	CCDC141	WWOX	CCDC8	GPX4	RRAS	OBSL1	PCNT	COX4I2	BMP2	LGR4	SMC1A	RIT1	NFIX	DCAF17	CD96	ARID1B	TMEM67	ORC4	HSPG2	NSD1	CYP19A1	KCNJ2	NIN	CREBBP	HS6ST1	CDC6	GJA1	MLXIPL	ALMS1	ASXL2	DVL1	HSD17B4	RPS6KA3	CYP11B1	TRPS1	DUSP6	RRM2B	MEN1	LEPR	COL2A1	WT1	DDOST	TCF20	PTH1R	IGF1	FKBP6	AGA	MCM9	WDR11	NMNAT1	TBCE	XPC	KMT2A	IGFALS	GTF2E2	APC2	MSMO1	ARID1A	NEU1	NDNF	PRKG2	ANOS1	SPRY4	ATR	PDE4D	GBA1	GDF5	LTBP3	SCARB2	CLIP2	GNRHR	PIK3R1	INSR	CAVIN1	ESR1	PTEN	PEX6	SMARCD1	H1-4	SRP54	PPP1CB	MT-TL1	RAD21	PCGF2	DMRT3	RNF13	LETM1	CPLX1	CSGALNACT1	EZH2	SPRTN	ENPP1	PTDSS1	NRAS	NBAS	GHR	ACAN	BRAF	IGF1R	ABCC9	NR0B1	DDB2	GMNN	CDKN1C	ERCC2	FARSB	SBDS	TSHR	GATA4	MADD	PROP1	GRB10	WNT5A	NSMF	GPC3	CHST3	FSHR	ANTXR1	ATRX	FGFR1	PIGT	SLC7A7	ALDH18A1	BAZ1B	FSHB	RMRP	ELN	UFSP2	GNRH1	RBM28	EP300	LSS	LZTR1	OTX2	IFT57	ATRIP	MALT1	PROK2	FEZF1	FLNB	IHH	EIF4H	SHANK3	SECISBP2	NAA10	CKAP2L	IL17RD	HUWE1	BSCL2	SIN3B	EFL1	FGF8	PAM16	SOHLH1	SMARCE1	SOX11	RBBP8	SMARCA2	SRCAP	BRF1	THRA	SIN3A	MMP13	PCSK1	LEP	PROKR2	POLA1	SLC35D1	FOXA2	GH1	KCNQ1OT1	SOS1	CAV1	ERCC5	FMR1	CEP152	PRKACB	GHSR	BRD4	ITCH	H19	MKRN3	SHOC2	CENPT	TSHB	QRICH1	STAT1	CHD7	FOS	NR5A1	RNPC3	PSMC3IP	POP1	MAP3K7	MRPS22	SOX3	CBL	SEMA3A	DCC	CTBP1	MSTO1	RRAS2	METTL27	SLC26A2	XYLT1	HDAC8	ORC6	TRHR	FGFRL1	PAX8	STAT5B	GTF2IRD1	HSD11B1	MRAS	PAX1	CEP57	KISS1	PEX1	KRAS	GTF2H5	TP53	NFE2L2	ERCC3	BCL7B	TRAIP	PPP1R21	NCF1	NGLY1	SUZ12	AIFM1	CANT1	MPLKIP	PPARG	GLI2	UBR1	ARCN1	EED	RFC2	DDX6	TBL2	HRAS	BMP15	POLR3H	INPPL1	TACR3	LHCGR	TAC3	GTF2I	TAB2	MC2R	AHSG	PIGG	DONSON	FLRT3	CCBE1	PIK3C2A	SMARCC2	SOX9	RNF135	NELFA	KCNQ1	CENPE	HMGA2	CENPJ	CYB5A	BMPR1B	STX1A	LPIN2	ROR2	DNAJC30	SLC10A7	NSUN2	NIPBL	NPR2	BNC1	KARS1	SLC29A3	SOX4	VAMP7	EVC2	XPA	DHX37	SOS2	NUP85	ITGB6	HESX1	POR	TARS1	ANAPC1	SMPD1	ALG9	SMC3	SPRED2	KCNJ8	DNAJC21	PDGFRB	GLI1	KIF15	CARS1	BUD23	MT-ATP8	POU3F4	RASA2	SLC25A24	RAF1	TRH	MAP3K1	ARID2	ZSWIM7	ERCC4	RNF113A	AGPAT2	NR2F1	GPR101	EYA1	TAF13	PLK4	GTF2IRD2	LIMK1	CDC45	ANKRD17	PPP2R3C	CHP1	DPF2	PPP1R15B	TOM1	TMEM270	SOX10	PTCH1	B3GAT3	COX4I1	DYNC2LI1	TONSL	POU1F1	GHRHR	TBCK	EVC	PRKACA
HP_CHONDROCALCINOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHONDROCALCINOSIS	HYAL1	CDC73	CLCNKB	NOTCH3	MEFV	WRN	SLC12A3	TNFRSF1A	ANKH	PDGFRB	ATP7B	ATP7A	GCM2	KCNJ1	MEN1	ALPL	TNFRSF11B	FXYD2	AP2S1	SLC12A1	LMNA	GNA11
HP_THICKENED_CORTEX_OF_LONG_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICKENED_CORTEX_OF_LONG_BONES	TRIM37	LRP5	TGFB1	FAM111A	ANO5	SOST	SETBP1	TBCE	LIFR	NF1	MAN2B1	COL1A1
HP_OSTEOPENIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOPENIA	MDM4	COL1A1	MGAT2	IARS2	CYP3A4	VPS37D	CTCF	SNRPN	HECW2	AFF3	LMNA	STAT1	SERPINA1	MKRN3	ANO5	CHD7	LTBP4	DUSP6	ZNF699	KISS1R	STN1	PSMC3IP	PSAP	ALDH18A1	NUP107	RNU4ATAC	MRPS22	SOX3	AVP	GNPTAB	PLOD1	SLC9A3	METTL27	IFT140	ELN	MAGEL2	TMEM38B	GFI1	SEC24D	CLCA4	ATP6V0A2	RSPRY1	SLC39A8	IL1RN	SLC39A13	TAPT1	MMP2	SPIDR	GTF2IRD1	RECQL4	PLEKHM1	XYLT2	B4GALT7	ZMPSTE24	CREB3L1	AIP	PMM2	KCNJ1	TRPS1	TCIRG1	UROS	SKI	POC1A	COX4I2	GLIS3	KISS1	BMP2	TAF1	CEACAM6	TREM2	HS6ST1	DCAF17	GTF2H5	LAMA5	SLC10A1	TMEM67	NAGA	FBN2	CYP19A1	RPL11	FAT4	POLR3A	BCL7B	GPR35	MLXIPL	SATB2	LRP5	CDH23	MTX2	HSD17B4	SLC34A1	NPR2	ANTXR2	NCF1	FKBP14	COL7A1	MPLKIP	MAFB	GCM2	GCLC	SPRY4	LHX4	GLI2	KNSTRN	STAT3	DDOST	TRPV6	PIK3CD	FKBP6	SLC12A1	WDR11	EED	DCTN4	RFC2	HNRNPK	GTF2E2	PRLR	TBL2	GEMIN4	FGF17	COG1	BMP15	POLR3H	ADAMTS2	TACR3	HFE	ALG3	TAC3	KRAS	GTF2I	EDNRA	SLC37A4	IFIH1	MMP14	HBB	STX3	SLC11A1	GPAA1	TNFRSF11B	MTTP	SCARB2	HERC2	CLIP2	GNRHR	CRTAP	AEBP1	ESR1	NDN	P4HB	MIF	ADAMTSL2	B3GALT6	STX1A	OCA2	CAVIN1	SEC23A	LIFR	MAN2B1	SLC17A5	ELANE	DNAJC30	NPAP1	DPM2	ERCC3	FGFR1	SNORD115-1	PTH1R	COL5A2	GNPAT	FBN1	UROD	NAA20	IER3IP1	CLPB	POLE	PWRN1	FGFR2	BNC1	IL17RD	MEN1	SNORD116-1	SLC35A2	PWAR1	NR5A1	KCNN4	PROP1	SRP54	FBLN5	SBDS	FARSB	TARS1	SMPD1	PYCR1	CHST3	P3H1	NSMF	GBA1	PIGY	PDGFRB	TCF4	SGMS2	SLC26A9	GATA1	MTAP	FSHR	DCHS1	SLC2A2	CARS1	BUD23	CTC1	PIGT	SLC9A3R1	SLC6A14	SLC7A7	IRX5	TERT	BAZ1B	HMOX1	NOTCH2	MBTPS2	GNRH1	MIA3	ZSWIM7	PLOD2	CDC73	GSTM3	CCND1	ADCY10	SH3PXD2B	ERCC2	FUT8	RNF113A	OTX2	MST1	CYP27A1	GORAB	MMP1	KL	PROK2	PAPPA2	PRKACA	EIF4H	TTC26	PDE11A	DNAJC21	IGF1	TCF12	PLOD3	GTF2IRD2	LIMK1	ATP8B1	USP9X	NRAS	GNAS	SMARCD2	CRIPT	SERPINH1	EFL1	FGF8	RNF125	NF1	HPGD	UNC80	CDKN1C	TOM1	PIGU	TMEM270	SEMA4D	IFITM5	HESX1	CFTR	TGFB1	PRKAR1A	BRAF	B3GAT3	TONSL	PYGL	COPB2	HNRNPH1	ANAPC1	FKBP10	POU1F1	HRAS	CEACAM3	COL5A1	FOXA2	PROKR2	SIM1	FLRT3	SMARCAL1	ATP7A
HP_OSTEOPOROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOPOROSIS	CYP11A1	VPS37D	IFT122	BMP1	NHP2	ZBTB20	SERPINA1	DUSP6	NUP107	FAT4	RNU4ATAC	ZFPM2	TERT	CANT1	HFE	PLOD1	ASXL1	NSD2	MAGEL2	RRM2B	SPIB	CYP17A1	SRY	NOP10	MMP2	SPIDR	TNFRSF11A	ATP7B	WWOX	PARN	AIP	CEACAM6	HS6ST1	TINF2	POLG	LARS2	HSPG2	PCCB	CYP19A1	COL2A1	HLA-DQB1	SPARC	MLXIPL	SP7	ASXL2	CDH23	ARMC5	WNT3A	ANTXR2	USP8	SRC	PRG4	GCM2	GCLC	RIN2	WT1	DKK1	IGF1	FKBP6	WDR11	CYP27A1	IL12RB1	CTC1	RNU7-1	FGF17	PEX12	WRN	CDC73	EDNRA	SLC37A4	NPM1	PCCA	MMP14	HBB	SLC11A1	RUNX2	IL12A	TNFRSF11B	RECQL4	CLIP2	GNRHR	AEBP1	USP48	COL1A1	NDN	MIF	TMEM165	CAVIN1	SATB2	POU2AF1	GNAS	PROK2	DMRT3	SLC25A4	BMP6	SNORD115-1	NGLY1	ATP7A	UROD	PWRN1	IL17RD	ADAMTS2	WRAP53	PDE8B	ABCC9	NR0B1	PWAR1	KCNN4	SRSF2	PRKAR1A	ATP6V0A1	GATA4	PROP1	GK	SMS	LRP5	NSMF	PYCR1	TCF4	SGMS2	SLC26A9	FSHR	PIGT	SLC6A14	SLC7A7	BAZ1B	OCA2	ELN	BMP2	HLA-DQA1	GNRH1	ADCY10	SNRPN	OTX2	NOTCH2	ATRX	MALT1	PRKACA	EIF4H	MTRR	B3GALT6	CCN6	POF1B	COL1A2	HAMP	G6PC1	FGF8	CBS	PHKG2	TGFB1	RAB3GAP1	TGFBR2	CEACAM3	FOXA2	STX1A	WNT1	GALT	SIM1	LMNA	FLRT3	HSD17B4	TERC	ERCC6	RPL10	KIT	PRDM5	TRIP11	STAT1	MKRN3	CHD7	NR5A1	PSMC3IP	HJV	PHKA2	MRPS22	SOX3	SLCO2A1	SLC9A3	METTL27	TP53	HPGD	CLCA4	POLD1	GTF2IRD1	TENT5A	TET2	WDR35	UROS	TWNK	KISS1	XYLT2	CPLX1	PMM2	RTEL1	DPAGT1	RPL11	PDLIM4	CTDP1	BCL7B	GPR35	ESR2	SMAD3	SLC34A1	NCF1	COL7A1	LETM1	KDELR2	LHX4	GLI2	FKBP10	CALCR	DCTN4	WDR19	RFC2	USB1	PRLR	TBL2	BMP15	POLR3H	TACR3	ZNF469	NFIX	TAC3	GTF2I	MED12	IFIH1	DKC1	TNPO3	TRAPPC2	PIGG	GPAA1	HERC2	SOX9	TNFSF15	NELFA	LRP6	ASAH1	CYB5A	NDUFAF1	LIFR	DNAJC30	NPAP1	LAMB3	VPS53	BNC1	MEN1	SNORD116-1	GLB1	VAMP7	SPRY4	DHX37	PDE11A	ANAPC1	SMPD1	IFT52	ADAMTSL2	BRAF	CHST3	KCNJ8	EIF2AK3	NR3C1	GATA1	BUD23	IRF5	SLC9A3R1	TYMS	HMOX1	MAP3K1	BANF1	ZSWIM7	GSTM3	SH3PXD2B	MST1	ESR1	GORAB	MMP1	LAMC2	MMEL1	IFT43	TCF12	HSD3B7	GTF2IRD2	LIMK1	HTRA1	CBL	NF1	FGFR1	KISS1R	TOM1	TMEM270	RUNX1	SEMA4D	HESX1	CFTR	TRMT10A	LAMA3	GALNS	POLG2	PHKB	B3GAT3	PYGL	POU1F1	ALB	PLOD2	LMX1B	PROKR2	SLC25A19	CTBP1	TBCK	SC5D
HP_ABNORMAL_DIAPHYSIS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DIAPHYSIS_MORPHOLOGY	ARSB	IARS2	CYP3A4	COL2A1	VPS37D	CYP27B1	GDF5	HSPG2	MATN3	BHLHA9	HS2ST1	IFT43	KIAA0753	ZBTB20	RPGRIP1	LBR	IDS	ZNF699	GAN	FLNA	B9D2	MEGF8	IPO8	IDH1	ACTA1	CANT1	KRAS	CAMK2A	LRP5	COL11A2	TRPV4	CTNS	SFRP4	TMEM38B	FAM111A	TCTN3	GLI3	RSPRY1	TBC1D7	SLC26A2	TBXAS1	DYNC2H1	TPM2	IDUA	PUS3	ZEB2	RECQL4	EXT1	B4GALT7	TNFRSF11A	CREB3L1	KAT6A	COL10A1	PTPN11	CFL2	FGFR3	SKI	NFIX	HS6ST1	DYM	LAMA5	RPGRIP1L	TCTN1	TMEM67	CYP19A1	COL1A2	POLR3A	MLXIPL	SP7	H3-3B	MTX2	DDRGK1	PCYT1A	RPS6KA3	TRPS1	TXNDC15	LOXL3	CEP290	NEK8	ATP6V0A2	MKS1	BPNT2	LONP1	PTH1R	C12orf57	FKBP6	KIF7	PCNT	CA2	PRKG2	RUNX2	NEK9	TNFRSF11B	CLIP2	EVC2	ANO5	EXT2	RMRP	COL9A1	TBCE	EFL1	TMEM165	B3GALT6	SATB2	MAN2B1	CYP2R1	SOX9	TNFSF11	SNORD115-1	CSGALNACT1	SPTBN1	FBN1	PWRN1	FGFR2	ENPP1	PTDSS1	CLCN5	SHOX	CDC45	MMP13	SEC24D	PWAR1	ATP7A	SOST	NDUFAF6	DMP1	SCARF2	P3H1	LTBP1	CHST3	SGMS2	CLCN7	KIF22	ATRX	FLNB	WDR35	VPS13B	MAPK8IP3	POLR1A	PRKACB	VAC14	POR	COL9A2	BAZ1B	PHEX	PRKACA	ELN	UFSP2	HBB	COMP	IFT122	NOTCH2	IFT57	RSPO2	SNX10	MAGEL2	IHH	EIF4H	CCN6	XYLT1	MAP3K7	MCTP2	TMEM53	CBS	OCRL	GUSB	BRF1	SPART	FGF23	ZPR1	TRIP11	HNRNPH1	DYNC2I1	GPR101	SLC35D1	CILK1	PEPD	PMP22	COL1A1	VDR	P4HTM	BMPR1B	VPS35L	WNT7A	ACP5	POLRMT	CENPT	MMP9	NF1	COG5	MKRN3	FN1	COL11A1	TCTN2	MEG3	CSF1R	BCOR	TMEM107	EHHADH	SLCO2A1	METTL27	STX16	TGFB1	HPGD	AIP	TONSL	SMOC1	WDR62	GTF2IRD1	TENT5A	PAPSS2	GLI1	FBN2	MAP2K2	ALPL	RAB23	BCL7B	MPZ	BGN	NCF1	FAM20C	CRKL	FGFR1	KDELR2	TRPV6	FKBP10	GLB1	TMEM237	TMEM216	ARCN1	WDR19	RFC2	TBL2	COL9A3	NEPRO	TUBB3	IFT172	SLC34A1	GTF2I	IFIH1	TFE3	B9D1	HERC2	UGP2	CRTAP	NKX3-2	ANTXR2	MAPK1	ARSK	EVC	IL6ST	STX1A	HEATR3	ROR2	LIFR	CSPP1	B2M	DNAJC30	NPAP1	FIBP	SLC10A7	INPPL1	SETBP1	NEB	BCR	RIPK4	FIG4	ACAN	GNPTG	HOXA11	SNORD116-1	BRAF	CCDC134	RBM8A	DLK1	IFT52	RAB33B	ORC1	EIF2AK3	RPL13	SF3B2	MTAP	SLC2A2	BUD23	CTC1	KLHL41	ESCO2	TMEM231	CPLANE1	PLOD2	SH3PXD2B	GJA1	P4HB	GORAB	NSD1	KANSL1	PYCR1	GTF2IRD2	LIMK1	LMOD3	RTL1	SERPINH1	NPR2	TMEM270	DDR2	TCIRG1	LRP4	GALNS	SLC34A3	B3GAT3	RNU4ATAC	DYNC2LI1	ORC6	MAP2K1	ANAPC1	CLTCL1	CC2D2A	GNAS
HP_DYSOSTOSIS_MULTIPLEX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSOSTOSIS_MULTIPLEX	IDUA	NEU1	GLB1	NAGLU	GNE	ARSB	GUSB	IDS	FGFR1	GALNS	MAN2B1	AGA	CTSA	GNS	TMEM251	SGSH	GNPTAB	GNPTG	SUMF1	VPS33A	FUCA1	KRAS	HGSNAT
HP_ABNORMAL_METAPHYSIS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_METAPHYSIS_MORPHOLOGY	EXTL3	ARSB	IARS2	CYP3A4	COL2A1	CYP27B1	MATN3	WDR19	ACP5	TRIP11	B3GALT6	MMP9	QRICH1	LBR	UFSP2	PDGFRB	HDAC6	NSD1	ACAN	FN1	FLNA	EXOC6B	COL11A1	NANS	POP1	IDH1	MEG3	RNU4ATAC	CSF1R	DYNC2I1	TERT	IL7R	CANT1	RMRP	GNPTAB	SLC26A2	XYLT1	WDR35	TCIRG1	COL11A2	TRPV4	CTNS	STX16	SFRP4	INPPL1	TGFB1	SIK3	TONSL	TBXAS1	NHP2	PEX5	SLC39A13	DYNC2H1	TAPT1	MMP2	CHEK2	RECQL4	B4GALT7	TNFRSF11A	NOP10	CCDC8	PARN	OSTM1	GPX4	COL10A1	CHD7	MAGEL2	TTC21B	OBSL1	IFT80	FGFR3	SKI	TINF2	DYM	VPS33A	IL2RG	SLC29A3	HSPG2	RTEL1	ALPL	DYNC2I2	IFT172	DDRGK1	PCYT1A	BGN	PLCB3	GJA1	CFAP410	PEX7	SUZ12	AIFM1	LMBR1	LONP1	PTH1R	FAM111A	KIAA0586	ARCN1	EED	USB1	CTC1	SLC35D1	PCNT	SMAD4	CSPP1	PORCN	ANKH	CASR	NEPRO	ALG3	PISD	NPM1	PRKG2	RASA1	GPC6	TRAPPC2	ATP7A	PIK3C2A	NKX3-2	CEP120	EFL1	TMEM165	BMPR1B	CLCN5	SRP54	LIFR	CYP2R1	SLC17A5	IDUA	VDR	CDKN1C	AMMECR1	SETBP1	CCN6	TNFSF11	EZH2	FBN1	DYNC2LI1	CUL7	PTPN11	ADA	POLE	FIG4	PTDSS1	EXT2	MMP13	WRAP53	ABCC9	SEC24D	GLB1	COG4	CWC27	SBDS	DLK1	CSGALNACT1	DKC1	IFT52	RAG2	RAB33B	NSMCE2	CHST3	PITX1	LIG4	KCNJ8	RPL13	DNAJC21	RAG1	MTAP	CLCN7	CENPE	LRP5	KIF22	POLR1A	VAC14	SHOX	TYMS	PHEX	ERCC1	TNFRSF11B	COMP	RAB3GAP2	SH3PXD2B	IFT122	NOTCH3	NOTCH2	P4HB	RB1	DCLRE1C	LPIN2	SNX10	WDR26	IFT43	MAP3K7	IFT140	LRRK1	TMEM53	NDN	RTL1	LEMD3	NPR2	TP53	ALG9	EXT1	PAM16	SNRPN	OCRL	DDR2	GALNS	RUNX2	SLC34A3	B3GAT3	KCNE5	HNRNPH1	ANAPC1	ACSL4	PLEKHM1	TRPV6	AMER1	IDH2	ANTXR1	GNAS	ACVR1	RSPRY1	EIF2AK3	TERC
HP_HYPOPLASTIC_ILIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_ILIA	CREBBP	POLR3A	SOX9	EP300	ARSB	CTSK	IFT81	HSPG2	PCYT1A	INPPL1	FLNB	ACP5	LIFR	PCNT	COL2A1	B3GALT6	RIPK4	HDAC6	RMRP	KAT6B	EXOC6B	POP1	WNT7A	RPS19	MEG3	ERCC8	FGFR3	RTL1	SMAD4	EED	RUNX2	GATA1	TBX15	SLC26A2	DLK1	EZH2	DYM	COL11A1	FN1	ERCC6	RNU4ATAC	TMEM251	CCBE1	COL11A2	SLC35D1	NKX3-2	EVC2	LAMA5	TRAPPC2	IHH	EVC	TMEM67	WDR19	MAN2B1	FLNA
HP_DUMBBELL_SHAPED_LONG_BONE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUMBBELL_SHAPED_LONG_BONE	COL11A2	COL2A1	SLC35D1	COL11A1	SLC26A2	INPPL1	TRPV4
HP_JAUNDICE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JAUNDICE	UNC13D	RHD	EPB42	EPB41	POU1F1	YARS1	NKX2-5	CTCF	SLCO1B3	ABCC2	BRCA1	TSHB	TSHR	USP53	JAK2	SLC44A1	MYO5B	PRF1	ETFA	RNASEH2C	PRKAR1A	GPI	RNU7-1	RAB27A	PRSS2	SETD2	ATP6AP2	ABCB11	GALM	AKR1D1	TP53	HYOU1	NPC2	SPTA1	DZIP1L	PEX14	SPOP	CCDC115	CASR	ADAMTS13	PEX26	LIPA	UGT1A1	TRHR	SPIB	SPTB	GALE	KCNN4	HMGCL	CPOX	SPINK1	PEX3	OCLN	ATP7B	SLCO1B1	PTPN3	PEX16	STXBP2	COX4I2	TFAM	PEX1	ARL13B	RINT1	JAG1	SLC10A1	SLC4A1	ACADVL	HNF1B	FCGR3B	RNASEH2B	STX11	PEX6	CTRC	MMACHC	TPO	GPR35	HSD3B7	ABCB4	CALR	CFTR	LBR	SLC25A13	PEX19	IYD	VIPAS39	CDKN2A	ZFYVE19	PRPS1	TREX1	CPA1	SLC26A4	VPS33B	PKLR	DUOXA2	IL12RB1	RHAG	ATP11C	SKIC3	APC2	PEX13	ATP8B1	RABL3	ALDOB	LHX3	ETFB	CYP7B1	MED12	TNPO3	HBB	IL12A	PROP1	ATP7A	PIEZO1	DCDC2	SLC37A4	PEX2	TNFSF15	GH1	ALG6	TULP3	PEPD	NR1H4	POU2AF1	F5	SPTBN1	PALB2	SLC16A2	KMT2E	HTRA2	RNASEH2A	IER3IP1	LHX4	BRCA2	LYST	PEX11B	SEC23B	G6PD	TG	TBX19	KRAS	PEX12	AMACR	PKHD1	RHCE	KYNU	DHFR	KRT18	ALDOA	FLI1	SLC2A1	NSD1	CDAN1	TPI1	FOCAD	PFKM	IL2RG	PALLD	KIF12	PEX5	PEX10	TCF4	SP110	LSM11	IRF5	UNC45A	SLC5A5	COG7	KIF23	PARS2	GALK1	CASK	ATP6AP1	DGUOK	IL18BP	GCLC	MST1	SLC30A10	GLRX5	HESX1	SMAD4	PIGA	CYP27A1	CLDN1	MMEL1	DUOX2	ABCD3	ETFDH	PRSS1	NPC1	TTC26	NAA10	IFIH1	DEF6	HBG2	MPV17	SAMHD1	ADAR	DPAGT1	LPL	GYPC	SMPD1	ANK1	SEMA4D	UROS	RNU4ATAC	PAX8	HK1	BAAT	TRMU	GALT	SLC51B	SERPINA1	CDIN1	EIF2AK3	NBAS	POLG2	PKD2
HP_HYPERPIGMENTATION_OF_THE_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPIGMENTATION_OF_THE_SKIN	KRT14	CYP11A1	KITLG	SLC40A1	FANCB	POLA1	SDHD	UBE2T	NHP2	OCA2	RIT1	PAX6	TERT	NDUFB11	PTPN11	KRAS	SETD2	SALL4	HFE	MAX	CDKN1B	IGF2	MSH2	COL17A1	SEC23B	STEAP3	ZMPSTE24	RET	SPIB	AAAS	CASR	GNAS	ADH5	GJB6	NOP10	MMP2	RECQL4	ERCC4	PARN	RTEL1	FANCC	TINF2	CYBB	KRT5	PHIP	PALB2	MTX2	CREBBP	FERMT1	LZTR1	BRCA2	CYP11B1	TP63	TRIP13	CHN1	USP8	CSTA	GJA1	CYBC1	PDGFRA	KNSTRN	HPS1	NF1	TXNRD2	IGF1	MAN1B1	RAD51C	HRAS	IL12RB1	APC	XPC	CTC1	PCNT	NF2	SKIC3	APC2	ZFHX4	POFUT1	FANCF	MAD2L2	PIK3CA	KIF1B	RAF1	SMARCAL1	NPM1	FANCA	ACP5	IL12A	KIT	CDH23	SLC27A4	BRIP1	NNT	INSR	USP48	SRD5A3	USB1	PTEN	ERCC6	RFWD3	MAFB	LMNA	ATP2A2	GNA11	MAP2K2	PPP1CB	TFR2	JAK3	SLC6A19	VHL	SPRED1	SVBP	KDM5C	POU2AF1	BUB3	BMP6	SDHA	ABCC9	SDHB	DHX30	UROD	POGLUT1	MED12	GJB3	GNB2	NBN	BRAF	WRAP53	PDE8B	DDB2	KMT2D	ATP6V1B2	MRAP	CPOX	CWC27	ERCC2	BRCA1	PRKAR1A	ABCD1	CBL	NSD1	SMS	REV3L	FANCI	LBR	TMC8	PANK2	STAR	PLXND1	PPOX	SDHC	SPINK5	BLM	DSTYK	ERCC8	HJV	GBA1	SETBP1	BMP2	HBB	AKT1	RBM28	EP300	NRAS	WASF1	ATRX	ATM	ABCB6	ALDH3A2	CD28	MAPRE2	ERCC1	HAMP	SET	GPNMB	SLC29A3	CDKN1A	SMARCA2	MEN1	LYST	MC2R	SMARCAD1	UROS	KCNN3	APOE	ACD	GPR101	SASH1	ERCC5	BUB1	COL25A1	NCF4	TSC2	TERC	IKBKG	DNASE1L3	TP53RK	TSC1	CTLA4	PDGFRB	HMGA2	FANCD2	IL6	GNAQ	KDM6A	TNFRSF1B	CLCN7	TP53	MLH1	MTOR	COX7B	FANCE	COL7A1	NCF1	AIP	STK11	HCCS	BUB1B	HLA-DRB1	SHOC2	POLH	CYBA	CEP57	IRF4	FANCL	PIDD1	CLTRN	CDKN2B	MAPK1	ERCC3	TMC6	SEC23A	TOP3A	PSMB8	SLX4	RERE	UBR1	PIK3CD	HGD	NR0B1	DKC1	COL3A1	PSENEN	TNPO3	TUBB	SMG8	MCM4	PIGN	FGFR1	TNFSF15	CDKN2C	KDM6B	XRCC2	C1S	TGM5	NOD2	ESCO2	RPS27	SGPL1	ST3GAL5	SNRPN	ANTXR2	USF3	TWIST2	MYO5A	PLAG1	H4C5	IL7	C1R	KCNH1	XPA	SKIC2	PDE11A	GJB4	ANAPC1	IFNG	NCF2	NR3C1	CIB1	GATA1	IRF5	HSD3B2	TYMS	ARL6IP6	BANF1	ACTB	MAP2K1	TRAPPC11	CDKN1C	SH3PXD2B	NOTCH3	PRKACA	UBE2A	FANCM	MMEL1	CARD14	KANSL1	SOX10	PMS2	KDSR	LEMD3	RBBP8	CRIPT	TMEM127	ALAS2	FANCG	COPB1	MSH6	TNFRSF1A	FGFR3	KLLN	GMPPA	MC1R	PLEC	PORCN	BTNL2	RAD51	ADAR	WBP11	RPA1
HP_SINGLE_TRANSVERSE_PALMAR_CREASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SINGLE_TRANSVERSE_PALMAR_CREASE	BRD4	EXTL3	TSEN2	ITCH	IFT122	GDF5	RPL10	GLYCTK	CTCF	POLRMT	IFT43	AFF3	PEX3	LTBP4	FLNA	FGD1	BMP4	MEG3	RNU4ATAC	FBXO28	EHMT1	CTBP1	PEX5	STAG1	MEGF8	DPH1	CLCN7	TCF12	VPS51	HDAC8	TRIM8	ARL3	ARID1B	PEX10	THOC2	TCF4	FGFRL1	SMOC1	H4C9	G6PC3	ANKRD11	EXT1	B4GALT7	MED12	CEP57	SMPD4	RBM10	PEX1	SMC1A	PTPRF	BHLHA9	FGFR3	CREBBP	FGF9	NDUFB11	TRPS1	GLE1	PIEZO2	TWIST1	NALCN	BRF1	RAB11B	TSEN54	RIN2	DLX4	UBR1	APC	IGF1	CD96	KATNB1	DLK1	PEX6	KAT6B	GATA1	RTL1	TRIM37	PEX12	TRIO	NECTIN1	TPM2	FOXP1	ATR	WAC	SLC25A12	CCBE1	DOCK6	PLAA	DDX11	GRIN1	ZMYM2	PEX11B	FIG4	MAP1B	TFAP2A	CEP55	PEX2	ROR2	PEX16	HCCS	RAD21	LETM1	CPLX1	ZNF292	KDM4B	SETBP1	TMEM147	CDC42BPB	CSGALNACT1	SPTBN1	NGLY1	DHX30	NIPBL	NAA20	STXBP1	MYH3	BMPR1B	GNB2	NBAS	PPP2CA	UBR7	TELO2	FGFR2	TSEN15	NSD2	LMX1B	TAF6	ALDH6A1	PNPLA6	NOG	UBE3B	PACS1	H3-3A	TASP1	KCNK9	TNNT3	PUF60	PEX19	PDHA1	SMC3	TGDS	CHST3	HDAC4	TSEN34	NUP107	CKAP2L	TOE1	B3GLCT	ESCO2	VPS13B	NEXMIF	NUP188	VAC14	TNNI2	MEF2C	LONP1	PKDCC	EP300	COX14	RPS23	GJA5	PEX13	LIFR	IFT57	DPH2	COX7B	XYLT1	PEX26	PEX14	MAP3K7	MSL3	MCTP2	PPP2R3C	SET	NXN	GJA8	DPAGT1	ZNF462	SMARCA2	NSDHL	SMARCAD1	MED25	SMAD2	OFD1	PIGS	DIS3L2	CDK19	CILK1	PEPD	TBX4	ADNP	SMS	RPS6KA3	SEPSECS	PPP3CA
HP_ACANTHOSIS_NIGRICANS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACANTHOSIS_NIGRICANS	POLR3A	PKDCC	PLIN1	CIDEC	ELOVL1	AKT2	ERF	ALMS1	FGFR2	AGPAT2	LMNA	MC4R	ESR1	CUL4B	CLDN1	GPR101	FGFR3	JUP	LIPE	FOS	CAV1	PSMB8	INSR	PSMB4	PPARG	BSCL2	XRCC4	SMARCD2	HRAS	POMC	COPB1	AIP	PEX1	NSMCE2	TFE3	PCSK1	HSD11B1	PSMB9	CAVIN1	SPINK5	PEX6	CYP19A1	AFF4
HP_CAFE_AU_LAIT_SPOT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAFE_AU_LAIT_SPOT	VHL	SPRED1	KDM5C	GNA11	ESCO2	KITLG	FANCB	BLM	BUB3	TSC1	SDHD	TRIP13	FANCA	ABCC9	PCNT	CEP57	UBE2T	SDHB	DHX30	NF1	HMGA2	USF3	MED12	TWIST2	SKIC3	GNB2	FANCD2	NBN	BRAF	BRCA2	PLAG1	H4C5	PTPN11	KRAS	IL7	MAX	KDM6A	KMT2D	IGF2	MSH2	MAP2K2	CWC27	CLCN7	SEC23B	MLH1	BRCA1	STEAP3	SKIC2	MTOR	CBL	RET	ANAPC1	FANCE	NRAS	PTEN	IFNG	RAF1	REV3L	BUB1B	FANCF	FANCI	CIB1	SHOC2	TMC8	FANCC	FANCL	LZTR1	PLXND1	PHIP	MAPK1	PALB2	ARL6IP6	SETBP1	MAP2K1	CREBBP	AKT1	CDKN1C	MEN1	TMC6	SH3PXD2B	EP300	WASF1	TP63	ATM	TOP3A	FANCM	SLX4	KANSL1	SOX10	PMS2	RERE	ERCC4	ABCB6	UBR1	RBBP8	IGF1	SET	MAN1B1	RAD51C	BRIP1	APC	TMEM127	ZFHX4	FANCG	COPB1	SMARCA2	MAD2L2	PIK3CA	KIF1B	PDE11A	MSH6	PRKAR1A	NF2	KLLN	KDM6B	RAD51	RFWD3	XRCC2	BUB1	COL25A1	SDHC	WBP11	PPP1CB	TSC2
HP_DRY_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DRY_SKIN	CD28	CYP4F22	SAMHD1	SLC39A4	CTLA4	TSHB	PEX7	EDAR	RNASEH2C	IDH1	RNU7-1	IL7R	PTPN11	KRAS	RMRP	TNFRSF1B	TERT	ELOVL4	SATB1	UVSSA	OSMR	TRHR	CASR	TWIST2	TERF2IP	PAX8	FLG	LIG4	MPDU1	EDA	ALOX12B	POLH	CHD7	MBTPS2	ERCC4	EDARADD	TRPM1	KRT1	GTF2H5	TINF2	IL2RG	PROKR2	MAP2K2	MAPK1	ERCC3	ACD	RNASEH2B	SLC5A5	MITF	ELOVL1	CDKN2B	ERCC5	TP63	TRIP4	MYSM1	GJA1	CLDN10	MPLKIP	NAGA	RNF168	SRD5A3	ARNT2	KIF11	GINS1	XPC	GTF2E2	IFT43	SULT2B1	SOX3	UBE2A	BAP1	POLR3A	ABCA1	WNT10B	TGM1	SMG8	ERCC6	DOLK	ATP7A	RALGAPA1	PRKD1	TREX1	WNT10A	KANSL1	SPEN	GSN	RYR1	SDR9C7	LIPN	GNA11	NOD2	PHYH	STS	CSTB	NSUN2	PCNT	RNASEH2A	RIPK4	ADA	SKIC3	GJB3	ODC1	GNB2	BRAF	CAV1	CDKN2A	DDOST	ERCC8	DDB2	FUCA1	ALG11	SPRED2	XPA	ERCC2	OFD1	HESX1	MGMT	SKIC2	EXOC2	GJB4	TARS1	SOX2	INSR	RAG2	ABCA12	RAF1	TTC5	NIPAL4	NLRP1	RAG1	COG6	KIF15	CARS1	LSM11	PEX11B	ALOXE3	CST6	SPINK5	TRH	BANF1	ZNF341	MC1R	MAP2K1	RNF113A	NOTCH2	OTX2	CAMK2B	KYNU	DCLRE1C	ALDH3A2	NTRK1	KDSR	CLDN1	CDK4	IFIH1	PPP2R3C	GPNMB	ADAR	FGFR1	THRA	RNU4ATAC	POT1	PEPD	SMARCAD1	FDFT1	ASPRV1	KRT14
HP_CYANOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CYANOSIS	SCN2A	TBX20	PLXND1	GJA1	ABCC6	NUP214	GATA6	CYB5R3	COL5A2	CITED2	HBA1	SFTPB	LRP4	RNASEH2A	SLC18A3	RNASEH2C	HSD17B10	RNU7-1	SLC25A20	MVK	COL13A1	PAX3	PLD1	AGRN	CHRNB1	ETHE1	CYB5A	ACVRL1	SCN9A	NDUFS4	TCF4	HLA-DRB1	SLC25A1	PSAT1	CHAT	ZIC3	PUS3	SCN4A	SCN1A	KCNQ2	SEPTIN9	KCNQ3	ZMPSTE24	MMP21	GABRG2	SLC5A7	SLC25A3	LSM11	SNAP25	AK9	AGXT	PRKAG2	ABCA3	SLC34A2	SCN8A	RNASEH2B	CHRND	MUSK	ADAMTS19	GRIK2	TLL1	TXNDC15	VAMP1	PRRT2	CHRNA1	MYH6	CHRNE	SLC2A1	PCDH19	IFIH1	NKX2-5	TREX1	NKX2-6	HBG2	RAPSN	ACTC1	SAMHD1	ADAR	FUZ	SFTPC	DOK7	LMNA	ELP1	SYT2	COL1A1	COL5A1	HBB	RPS6KA3	GABRA1	MYO9A	RBM10	EIF2AK4	ENG	SCN1B	GATA4	ENPP1	GTPBP3	PCK1	MT-CYB	FUCA1	TMEM260
HP_HYPERKERATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERKERATOSIS	KRT14	KRT1	ATP2C1	KITLG	TNNC1	POLA1	KRT2	GJB2	ABCC9	SDHD	NHP2	TGM1	GLS	RIT1	EPHB4	DES	DSG1	ALOX12B	FHL2	TERT	RIGI	KRAS	PIGL	DSP	ELOVL4	SEC23B	ACTN2	DSG4	AAAS	STS	ALOXE3	IL1RN	GJB6	NOP10	MBTPS2	RECQL4	PERP	ZMPSTE24	PARN	SLURP1	ANKRD1	KRT5	COL6A2	FERMT1	DDR2	LZTR1	MTX2	SCN5A	TP63	KRT74	GJA1	KRT16	TMPO	TRAF3IP2	NECTIN1	VPS33B	GMPPA	SRD5A3	COL7A1	MYPN	XPC	CTC1	SULT2B1	CTSC	NAGA	TRPM4	GJC2	NEU1	KRT9	HLA-DRA	ADAMTS2	POFUT1	PIK3CA	WRN	NPM1	MDFIC	MCOLN1	AP1B1	ATP2A2	EXPH5	SLC27A4	FIG4	INSR	ZC4H2	USB1	BAG3	FLG	GATAD1	FLT4	SDR9C7	LIPN	TPM1	PTEN	CERS3	ABCA12	COL6A3	RHBDF2	ATL3	SREBF1	IKBKG	KRT17	SDHB	COL17A1	ERMARD	AP1S1	JUP	POGLUT1	TRIP4	FKTN	GJB3	PMVK	TTN	BRAF	WRAP53	TNNI3	SERPINB7	PRDM16	DDB2	KRT86	MAP2K2	BAG5	ERCC2	PNPLA1	TARS1	TNNT2	TYR	TCAP	AAGAB	CRYAB	SDHA	SPTLC1	AKT1	SASH1	LRP1	ALDH3A2	ELMO2	AQP5	HLA-B	PKP1	CD28	PPCS	IL17RA	ST14	GJB4	LORICRIN	LAMA4	COG6	ENPP1	CSRP3	PSENEN	PSEN1	SMARCAD1	KANK2	RBM20	ITGB4	CDSN	PEPD	COL6A1	LMNA	KDSR	ERCC5	ASPRV1	TRPV3	SDHC	TERC	CYP4F22	ACTC1	CAP2	KRT83	CTLA4	HDAC6	SPTLC2	RSPO1	KRT6C	DIP2B	FGFR2	SLCO2A1	CSTA	ECM1	TAF1A	TNFRSF1B	DSC3	GLA	HPGD	CLEC7A	TAT	MPDU1	SHOC2	TINF2	CAST	VEGFC	COL12A1	RTEL1	ERCC3	PLOD1	SOX18	KRT81	ELOVL1	ADAM10	KLHL24	KRT10	PLEC	FKBP14	MYH6	ZNF750	PLN	SERPINB8	DMD	GRHL2	HRAS	MYBPC3	SERPINA12	DOLK	CFTR	IL17F	WNT10A	TXNRD2	KRT13	MYH7	KRT6B	POMP	MVK	USF3	NLRP1	SGCD	DSG2	KRT6A	XPA	DKC1	ANAPC1	LAMB3	NIPAL4	PDGFRB	NEXN	DNAJC21	CARD14	SNAP29	TYMS	TAFAZZIN	TRAPPC11	PSEN2	TMPRSS6	ERCC4	KDF1	VCL	DSC2	KANSL1	LAMA3	COL14A1	LEMD3	NECTIN4	CDH3	HAND2	MAP2K1	NSDHL	RNU4ATAC	LDB3	KLLN	RAF1	IL17RC	LAMC2	GBA1	ATL1	FUCA1
HP_THIN_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIN_SKIN	TWIST2	KRT2	NEDD4L	DHX30	LMNA	COL3A1	C1R	TMTC3	PTDSS1	ADAMTS2	PDE8B	CAV1	DDB2	TGFBR1	IFT140	SOX18	XPA	ERCC2	B4GALT7	TP53	ALDH18A1	PRKAR1A	UBE3B	PDE11A	ZMPSTE24	ADAMTSL2	PYCR1	IPO8	BRAF	COL1A2	ARFGEF2	SLC39A13	ORC1	EDA	MAP1B	TGFBR2	NR3C1	MTAP	TRAF6	CTC1	NFIX	KDF1	FLNA	PDGFRB	ERCC3	MTX2	PLOD1	POLR3A	DDR2	TNXB	SLC2A10	ERCC4	COL1A1	COL7A1	EDAR	LIFR	ATRX	PRKACA	USP8	B3GALT6	GNAS	EDARADD	PPARG	ABL1	ERMARD	XPC	RBCK1	TP63	PORCN	FMR1	CHUK	CDH23	PROS1	PROC	PRKD1	GORAB	PIK3R1	PEPD	WNT10A	USP48	ARF1	AIP	SMARCAD1	ERCC5	SATB2	PPP1CB
HP_ECZEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECZEMA	FOXP3	C5	WIPF1	IL4R	PAH	RIT1	STAT1	DOCK8	IPO8	MCCC2	CYBC1	HPGD	SLCO2A1	IL7R	NSMCE3	IFIH1	FECH	TBX1	HLA-DQB1	TBC1D2B	TRAF3IP2	CASR	SIK3	GP1BB	NCF1	LGI3	FLG	LIG4	STAT5B	EDA	MBTPS2	TNFRSF1B	RREB1	SHOC2	CYBA	IL17RA	SUOX	TAF1	KRT1	CYBB	GTF2H5	PCCB	TMC6	H3-3B	EDAR	TKT	KRT74	MYSM1	HSPA9	NSUN2	CSTA	DHCR7	ZNF750	MPLKIP	STAT3	PGM3	SRD5A3	IL6ST	NCF2	EDARADD	FOXN1	GINS1	RAC1	FLI1	LBR	RBCK1	WAS	GTF2E2	SMARCC2	RRAS2	PCCA	SMG8	RNU4ATAC	CFTR	TP63	KANSL1	GNA11	TOM1	AUTS2	TGM5	IL6R	PEPD	IGKC	PIK3CG	ERCC3	HLCS	CTLA4	NCF4	CARD11	AARS1	ABCC9	PIK3CA	DDX41	POLE	MORC2	RTTN	PRMT7	CARMIL2	GNB2	HIRA	HDAC4	NBEA	CASP8	IL7	SRP54	NEK9	SBDS	RBM8A	SLC30A2	TARS1	SMARCA2	MS4A2	ARVCF	FOCAD	PIGA	ZAP70	CIB1	TMC8	CARS1	SCNN1B	TRAF6	NUP107	DNAJC21	SLC39A7	KDF1	CST6	SPINK5	COMT	NOD2	PLA2G7	ZNF341	HLA-DQA1	ERCC2	RNF113A	SEC24C	CAMK2B	SCNN1G	CARD14	SCNN1A	NAA10	CD28	EFL1	ADA2	BTD	IGHG2	LRRC32	HLA-DRB1	SRCAP	JAK1	IL2RA	SIN3A	JMJD1C	BRAF	CD3G	CDSN	MSN	MPDU1	MTHFD1	TBCK	UFD1	LIG1
HP_CUTIS_MARMORATA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTIS_MARMORATA	BRD4	EOGT	TGFB3	RAD21	GNA11	CBS	NSUN2	GUCY1A1	POLA1	LOX	ADA2	NOTCH1	PIK3CA	FOXE3	ABCC9	STING1	NIPBL	SMC3	RNASEH2A	PTDSS1	MYLK	TGFBR1	RNASEH2C	CAV1	RNU7-1	SMC1A	IFIH1	ARHGAP31	MFAP5	TGFB2	SAMHD1	ABL1	DLL4	STAG1	ADAR	ACTA2	MYH11	HEY2	RNF113A	HDAC8	DHCR7	ARID1B	PRKG1	AKT3	SMAD2	MAT2A	MYD88	NFIA	SOX18	RBPJ	H4C3	LIG4	FBN1	DOCK6	DDX11	TREX1	LARP7	LSM11	PTEN	AGXT	NFIX	RPS6KA3	ELN	SMAD4	TGFBR2	HEATR3	RNASEH2B	ARL6IP6	SMAD3	FTO
HP_HYPOHIDROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOHIDROSIS	KRT14	STS	ADAT3	SOX10	CSTB	POLA1	GJB2	ELOVL4	TP63	SCN9A	EDARADD	EDAR	EDA2R	ALOX12B	TRIP4	CTNS	HESX1	PNPLA1	COQ2	WNT10A	SOX2	GLA	MADD	ALOXE3	FAM111B	NIPAL4	PRDM12	EDA	MBTPS2	ERCC4	COG6	ERCC8	TRAF6	CRLF1	HEXB	KDF1	CST6	PROKR2	GJB6	ZFHX2	CLCF1	RIPK4	NFKBIA	TGM1	OTX2	LMNB1	CLDN10	PKP1	SHANK3	KCTD1	ALX4	GMPPA	CASK	ARNT2	ABCA12	COL11A1	STIM1	SOX3	CERS3	SLC13A5	FGFR1	NECTIN1	GHR	SMARCAD1	ELP1	ARX	TSPEAR	ERCC6	FLG	LIFR	ROGDI
HP_PETECHIAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PETECHIAE	PML	DCLRE1B	UNC13D	GIMAP5	CASP10	IRF2BP2	WIPF1	ITGB3	CALR	GP1BB	FYB1	FIP1L1	NABP1	PRF1	ITGA2	WAS	ZBTB16	GP1BA	GATA1	HOXA11	RAB27A	TREX1	FERMT3	GFI1B	JAK2	ETHE1	SAMD9	STAT5B	ITGA2B	TET2	FCGR2C	NPM1	STAT3	OCLN	RARA	ETV6	APOE	NUMA1	STXBP2	GNA14	STX11	GP9	USP18	BCOR	NEU1	MPL	TBL1XR1	CD109	CLCN7	GBA1	PRKAR1A	LCP2	PEPD
HP_ECTODERMAL_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTODERMAL_DYSPLASIA	PKP1	WNT10A	KANSL1	NFKBIA	IKBKG	NECTIN1	KRT74	IFT122	KRT85	GJB6	SMARCAD1	EDA	ORAI1	EDARADD	EDAR	ATP6V1B2	NLRP1	MBTPS2	CDH3	TP63	EVC2	EVC	HOXC13	WDR35	NECTIN4	IFT43
HP_ANHIDROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANHIDROSIS	ZFHX4	PKP1	COQ2	TRPV3	NFKBIA	PERP	WNK1	ALOXE3	NTRK1	CAMK2B	SCN9A	NGF	NGLY1	BCS1L	EDA	ALOX12B	ERCC6	CLDN10	EDARADD	LMNB1	KIF1A	SPTLC2	ERCC8	MBTPS2	EDAR	FUCA1	RYR1	COL25A1	KRT14	ALPK1	RETREG1
HP_ABNORMAL_SWEAT_GLAND_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SWEAT_GLAND_MORPHOLOGY	NTRK1	NFKBIA	IKBKG	EDA	KRT14	KDF1	ZMPSTE24	LMNA	TBX3	TP63
HP_CUTIS_LAXA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTIS_LAXA	ELN	DNAJC30	MAN1B1	FKBP14	TWIST2	VPS37D	AARS1	FGF20	ATP7A	EZH2	COL3A1	B4GALT1	ATP6V1E1	GGCX	RIT1	C1R	FBN1	LTBP4	FIG4	ZNF469	NDUFB11	NSD1	PTDSS1	GNB2	IPO8	GPX4	NBAS	ALDH18A1	MEG3	PITX2	KRAS	LTBP1	AEBP1	FBLN5	FGFR2	WDR19	ATP6AP2	RIN2	BRAF	MRPS22	METTL27	IFT140	XYLT1	MEGF8	ALG12	ATP6V1A	B4GALT7	FOXC1	DLK1	OSMR	ATP6V0A2	PYCR1	CHST3	B3GALT6	GTF2IRD1	SLC6A8	EXT1	BCL11B	BUD23	EED	PEX1	ANTXR1	WDR37	CDK13	LZTR1	FGFR3	XYLT2	CD96	SLC25A24	MAP2K2	VAC14	ASXL1	DSE	BAZ1B	PLOD1	BCL7B	ATP6AP1	SH3PXD2B	SLC2A10	MLXIPL	RPS6KA3	TRPS1	NCF1	GORAB	SPINT2	SUZ12	FLNA	EFEMP2	EIF4H	NAA10	GTF2IRD2	LIMK1	ABCC6	SRD5A3	NDUFB10	FKBP6	RTL1	KIAA0586	NPR2	MRPS16	HRAS	RFC2	HPGD	WDR35	IFT43	TBL2	GATA1	TBX15	SLC7A7	CSPP1	TMEM270	NEPRO	ADAMTS2	GTF2I	OTUD5	B3GAT3	MAP2K1	CHST14	WDR81	CLIP2	PTEN	ALG8	CEP55	GSN	STX1A	H1-4	MRAS
HP_HYPEREXTENSIBLE_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPEREXTENSIBLE_SKIN	COL1A1	FKBP14	ELN	IARS1	PRDM5	COL5A2	FBN1	B3GALT6	RIT1	C1R	TNXB	EXOC6B	ALDH18A1	IPO8	FBLN5	ADAMTS2	H4C5	KRAS	COL3A1	AEBP1	FLNA	PLOD1	RIN2	BRAF	ENPP1	ATP7A	MAP2K2	B4GALT7	AKT3	ADAMTSL2	COL1A2	CHST3	SLC39A13	INSR	FGD1	FGFR2	SLC26A2	PYCR1	SHOC2	SKI	XYLT2	COL5A1	LZTR1	PDGFRB	DSE	SLC2A10	KMT2C	SON	CHST14	COL12A1	ABCC6	YY1	TGFB2	SMARCD2	SLC7A7	WLS	ZNF469	RAF1	B3GAT3	PUF60	MAP2K1	GORAB	EHMT1	TWIST2	PTPN11	ANTXR1	GBA1	C1S	PAX2
HP_HYPERHIDROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERHIDROSIS	NLRP3	SDHB	H19	SDHD	ZNRF3	VHL	PRKAR1A	AIP	TERT	DSG1	SCN9A	MALT1	DNMT3A	SLCO2A1	MAX	THPO	RET	SUCLG1	RSPO1	HPGD	ATP1A3	FH	TAT	NHP2	SPR	KLC2	TP53	HLA-DRB1	SLC18A2	MEN1	NOP10	PARN	UCP2	SLURP1	CLCN6	TINF2	KRT1	HNF1A	PHOX2B	RTEL1	TRPV3	RETREG1	COL6A2	FLRT1	SCN11A	DST	ABCC8	WNK1	KRT16	JAK2	SERPINB7	DDC	FOXP1	YY1	USB1	MPL	CTC1	HNRNPK	PRNP	CCND1	NF1	FGFR2	KIF1B	NPM1	DKC1	CTSB	CFTR	PLAA	GNA14	WNT10A	KIF1A	CDH23	SDHA	LIFR	SLC1A3	KRT6B	COL6A3	IGHMBP2	PERP	KCNJ11	IGF2	NGLY1	CUL4B	KRT17	JUP	TMEM127	SLC39A14	WRAP53	MDH2	IL12B	MLX	KRT6A	SPRED2	MAP2K2	CLCNKB	GRB10	SDHC	KCNJ18	BOLA3	CACNA1S	SLC25A11	EPAS1	KRT9	HLA-B	KRT14	PTPN22	BIRC3	CRLF1	HEXB	CTNNB1	TYMS	ATP1A2	CDSN	ALDOB	CLCF1	HMBS	GPR101	HINT1	CACNA1A	NTRK1	MBTPS2	CDKN2A	HNF4A	BRAF	LAMB3	MAP2K1	COL17A1	BCL10	KCNA1	ELP1	P4HA2	SHQ1	KRT5	HRAS	DLST	SDHAF2	GABRA3	FUCA1	COL6A1	TERC	IKBKG	SLC12A3
HP_ECZEMATOID_DERMATITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECZEMATOID_DERMATITIS	FOXP3	CYBB	STAT3	HPGD	SLC39A7	NCF2	SLCO2A1	CYBA	FLG	ZAP70	BTD	NCF1
HP_SOFT_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SOFT_SKIN	SPARC	COL1A2	INPPL1	MGP	SLC2A10	COL1A1	FKBP14	ADAMTS2	IARS1	ZNF469	COL12A1	PRDM5	MICU1	COL5A2	B3GALT6	EDA	C1R	MLXIPL	KCNN3	SMAD3	SON	TNXB	TGFBR2	MTAP	MAP3K7	RIN2	COL5A1	KIF22	ATP6V1B2	XYLT1	ABL1	PIGQ	ATP7A	ELN	EFEMP2	TGFBR1	KCNH1	MAN2B1	PLOD1	PAX2
HP_BRUISING_SUSCEPTIBILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRUISING_SUSCEPTIBILITY	UNC13D	F13A1	IRF2BP2	ITGA2B	HBA1	WIPF1	COL1A1	ANKRD26	GATA2	FANCA	FOXE3	PRDM5	FIP1L1	COL3A1	TET2	COL5A2	C1R	TNXB	SLFN14	IPO8	FANCD2	F13B	PTPN11	F8	TGFB2	TGFBR1	PLOD1	SLC51A	ENPP1	MYH9	ACTA2	TP53	HPS6	GP1BA	STAT5B	RASGRP1	SIK3	FANCE	C1S	MAT2A	COL1A2	SLC39A13	FCGR2C	BLOC1S5	HPS4	FBN1	TGFBR2	CREB3L1	STXBP2	FANCC	GP9	KRAS	NFIX	MAPK1	PRKAR1A	DSE	P2RY12	SLC2A10	SMAD3	LOX	PLEC	FKBP14	VWF	USP8	ABCC6	RIN2	HPS1	LYST	FGA	GFI1B	FASLG	WAS	LMAN1	HEY2	TGFB3	GATA1	F5	ADAMTS2	ZNF469	BLOC1S3	SMAD2	SOS1	SLC37A4	RARA	TBXA2R	ETV6	FGB	CDH23	SCARB2	DTNBP1	AEBP1	USP48	BCOR	GSN	PML	ITGB3	ATRX	TNFSF11	GP1BB	HPS3	FAS	FGG	NABP1	PRF1	MYLK	ZBTB16	PDE8B	NBEAL2	ATP7A	F7	SPRED2	PDE11A	SERPINF2	BRAF	NPM1	STAT3	MPL	GBA1	NR3C1	MCFD2	MTAP	CLCN7	GP6	STX11	HPS5	SMAD4	FLNA	JAK2	MAP2K1	F2	CHST14	PRKACA	PRKCD	SNX10	NTRK1	B3GALT6	CASP10	PYCR1	PLOD3	GNAS	MFAP5	HBA2	ATP7B	RUNX1	MYH11	GGCX	EMILIN1	PRKG1	ARMC5	TCIRG1	TNFRSF1A	F10	NUMA1	COL5A1	TBL1XR1	AIP	ELN	PLAU
HP_PURPURA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PURPURA	PML	ITGB3	DCLRE1B	UNC13D	F13A1	GNA11	CASP10	IRF2BP2	ITGA2B	WIPF1	PROS1	GP1BB	CFHR3	FYB1	C4A	FIP1L1	COL5A2	GP9	MPL	NABP1	PRF1	ITGA2	CFH	ZBTB16	GP1BA	IFNG	CFHR1	HIRA	GATA1	WAS	F13B	HOXA11	RAB27A	PROC	MVK	COL3A1	JAK2	TBX1	ETHE1	SAMD9	TP53	HPS6	STAT5B	C2	ARVCF	BRAF	FCGR2C	NPM1	STAT3	OCLN	NR3C1	RREB1	GP6	STXBP2	NFKB1	STX11	TERC	CD109	CLCN7	COMT	SH2B3	PRKAR1A	STIM1	CTLA4	LCP2	ARL6IP6	P2RY12	GIMAP5	F2	CALR	SEC24C	NFKB2	CHST14	PRTN3	ATRX	USP8	ICOS	TNFRSF13C	SBDS	ORAI1	HPS1	HLA-DPB1	TREX1	ADA2	FERMT3	MS4A1	GFI1B	NLRP3	CD81	GGCX	MYD88	TNFSF12	TERT	HLA-DPA1	TET2	JMJD1C	ACP5	RARA	TBXA2R	ETV6	APOE	CDH23	NUMA1	COL1A1	GNA14	COL5A1	CR2	USP18	PTPN22	USP48	BCOR	NEU1	CD19	PRKCD	TBL1XR1	AIP	TNFRSF13B	GBA1	UFD1	TFR2	PEPD
HP_PALLOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALLOR	SLC1A3	SLC4A1	SDHB	OPA1	PRPF6	EPB41	PUS1	IKBKG	KCNJ11	TNFSF11	SF3B1	KIT	GATA2	FANCA	VHL	SMAD4	HGSNAT	POMGNT1	MPL	ZNF699	CACNA1H	TMEM127	RACGAP1	RPS26	RPL26	FANCD2	RPS19	MDH2	GABRA1	G6PD	DNMT3A	KCNQ2	RPS24	HBB	KLF1	SRSF2	MSTO1	GATA1	RET	SPTA1	JAK2	AGBL5	TRNT1	STEAP3	SCN9A	DHFR	ALS2	RPS27	TSR2	FANCE	ADA2	SPTB	ATP1A3	EPB42	FH	SDHC	HMGCL	HBG2	SLC25A11	RAG2	EPAS1	RAX2	RPS28	MMADHC	TET2	SCN1A	LRAT	FANCI	GABRG2	AIP	UCP2	CLCN7	KIF1B	MAX	TMEM126A	FANCC	RPL15	SLC19A2	HNF1A	RPL11	JRK	SH2B3	HBA2	ATP1A2	CUBN	RPS15A	ENG	HBG1	RPS29	RPS20	SCN2A	CASK	SLC46A1	TMPRSS6	CDH23	CALR	RPL27	MEN1	RPL35A	COL12A1	ABCC8	GABRB3	CACNA1A	SNX10	NRL	HBA1	RAG1	PCDH19	SLC2A1	FBP1	RPS17	DEPDC5	HNF4A	IFT43	PTS	AMN	KIF23	WDR19	PKLR	ALAS2	RPS10	NPRL3	CCND1	NPRL2	NF1	ANK1	TTC8	SDHD	TNPO3	MYD88	RPL35	KIF5A	PIEZO1	TCIRG1	ACAT1	RPS7	RPL18	SDHA	CDIN1	BMPR1A	RPL31	SCN1B	ASXL1	DLST	MT-CYB	SDHAF2	RPL5
HP_SKIN_RASH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_RASH	DNASE1L3	NOD2	FCGR2B	IGKC	NLRP3	UNC13D	PSMB10	IL2RG	LACC1	CASP10	CTLA4	BLM	IKBKG	SDHA	ACP5	B2M	CIC	STAT4	TREX1	TLR7	PTPRC	BLNK	NCF1	ADA	RFX5	PRF1	MVK	GJB3	TCF3	ELF4	RFXAP	BTK	LEMD3	TNFAIP3	FCGR2A	AK2	DNASE1	HLA-DRB1	POMP	SRP54	ARHGEF2	ENPP1	IFIH1	SPTA1	LMBRD1	ASXL1	FGA	IL6	SBDS	CYBB	GJB4	CDK10	CLEC7A	SPTB	EPB42	IL1RN	RAG2	TNFRSF1A	TNFRSF1B	LBR	APOA1	IL17RA	TET2	PSMB9	STXBP2	COX4I2	ERCC4	STX11	CD79B	RFXANK	SPINK5	SLC4A1	CLTRN	LRRC8A	ZAP70	LCP2	KIT	SDHB	IGHM	ERCC5	RIPK1	PRTN3	IRAK1	LYZ	STING1	STAT3	IFNG	GJA1	ABCC6	DCLRE1C	TRAF3IP2	RAG1	SYK	PIK3R1	PDGFRA	DNAJC21	PSMB4	KDSR	CD28	NLRC4	HLA-DPB1	OTULIN	NLRP12	NCF2	ZNFX1	EFL1	CBL	MIF	ADA2	BTD	SPP1	PTPN22	IGHG2	ARPC1B	RUNX1	ANK1	LYST	ERCC2	HLCS	HLA-DPA1	SDHC	CYBA	IGLL1	MEFV	IL17F	SRSF2	USB1	IL17RC	ERCC3	BTNL2	SMARCAD1	NAXD	CIITA	LPIN2	CD79A	TEK	JAK3	SLC6A19
HP_PRURITUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRURITUS	DNASE1L3	ASPRV1	NLRP3	CD28	POU2AF1	TRPM4	CTLA4	CYP4F22	KIT	TET2	UROD	USP53	KRT5	MVK	POGLUT1	MYO5B	FH	ADA	ALOX12B	PMVK	NR1H4	IL7R	MC1R	RMRP	ATP8B1	CTNNB1	ABCB11	SRSF2	THPO	SLC17A9	TNFRSF1B	ENPP1	PKHD1	FECH	ASXL1	PNPLA1	OSMR	LIPA	SPIB	FLI1	CLEC7A	FDPS	RAG2	ABCA12	CCDC47	NIPAL4	LIG4	KIF12	MPL	PERP	KRT14	TCF4	LBR	STX3	RAG1	CHD7	GATA1	ABCB4	PTPN3	UROS	COL7A1	IRF5	UNC45A	ALOXE3	CST6	IL2RG	PDGFRA	JAK2	TRPV3	TJP2	ZNF341	SULT2B1	MIA3	LDHA	CDSN	SCN9A	GPR35	SCN11A	MVD	LRP1	MST1	PLEC	ATP2A2	STAT3	MMEL1	KRT74	VIPAS39	NRAS	CARD14	DCLRE1C	ABCC6	DSP	DSG4	AQP5	TRAF3IP2	PKP1	ZFYVE19	HSD3B7	IL17RA	SCN10A	ST14	CBL	GPNMB	ATP7B	IL12RB1	CERS3	IL31RA	RUNX1	SEMA4D	HLA-DRA	KRT10	POFUT1	VPS33B	PSENEN	MED12	TGM1	TNPO3	IL12A	CFTR	IL17F	EPOR	BRCA2	SLC27A4	DCDC2	PEPD	FLG2	IL17RC	PLCG2	TNFSF15	EPAS1	GSN	SDR9C7	BRCA1	LIPN
HP_XANTHOMATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_XANTHOMATOSIS	SPRED1	LPL	PPP1R17	SMPD1	LMF1	EPHX2	LMNA	GHR	APOE	ABCG5	FGFR1	SLC37A4	CYP27A1	LDLRAP1	ABCA1	APOB	LIPC	ABCG8	PCSK9	APOC2	APOA1	APOA5	APOA2	PPARG	KRAS	G6PC1	LDLR	TTPA
HP_CUTANEOUS_PHOTOSENSITIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTANEOUS_PHOTOSENSITIVITY	LIG4	FCGR2B	NPAP1	RORB	SYNGAP1	ERCC3	NSUN2	BLM	SNORD115-1	C4A	UROD	MKRN3	MVK	PWRN1	ERCC2	GJB3	CARMIL2	PMVK	ERCC8	FCGR2A	SNORD116-1	DDB2	PWAR1	ERCC6	DNASE1	SLC17A9	CPOX	FECH	XPA	RNF113A	DHCR7	UVSSA	EPM2A	ERCC4	GJB4	TARS1	CLPX	SAMHD1	FDPS	NCF1	ALAS2	NCF2	SLC6A19	KRT1	ERCC5	NBN	POLH	CYBA	GATA1	KRT10	CARS1	UROS	CYBB	KRT5	PPOX	PCNA	GTF2H5	PRICKLE1	CLTRN	FERMT1	HFE	CSTB	MVD	COL7A1	TREX1	GJA1	MAGEL2	CYBC1	MPLKIP	KDSR	SCARB2	ABCB6	ERCC1	PTPN22	XPC	GTF2E2	DDX6	LYST	CTLA4	NHLRC1	IFIH1	RECQL4	KRT14	HERC2	PEPD	TP63	XRCC4	FDFT1	NCF4
HP_MOLLUSCOID_PSEUDOTUMORS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOLLUSCOID_PSEUDOTUMORS	COL1A1	COL5A2	COL5A1	ZNF469	COL3A1	PLOD1
HP_MELANOCYTIC_NEVUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MELANOCYTIC_NEVUS	NRAS	AKT1	RBM28	ERF	ERCC4	FGFR2	LZTR1	SPTBN1	SDHD	SDHB	THPO	MC1R	COL3A1	PRKAR1A	PIK3CA	PTCH2	CHRNA7	PDE4D	USF3	FGFR3	PTEN	PTCH1	HPS1	CBL	DDB2	HRAS	IGF2	RRAS2	EED	XPC	BRAF	TP63	OCA2	XPA	SEC23B	ERCC2	CDH3	FKBP10	SOS2	KRAS	EZH2	TYR	RAF1	BLOC1S5	PTPN11	SPRED2	SUFU	TNFRSF11A	RRAS	MRAS	NFIX	KLLN	MPL	RIT1	SOS1	RASA2	SUZ12	ERCC5	ERCC3	SDHC	FBN1	TNFRSF11B
HP_FACIAL_CAPILLARY_HEMANGIOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_CAPILLARY_HEMANGIOMA	OFD1	RASA1	RBM8A	DHCR7	ESCO2	MGAT2	POR	EPHB4	GLI3	CD96	RECQL4
HP_HYPERTRICHOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTRICHOSIS	BRD4	MT-ND4	NDUFV2	ADAT3	COX5A	GABRA3	NDUFA9	BLM	TMCO1	CLCN3	CTCF	KCNK4	SPATA5	KIAA0753	DEAF1	ZNRF3	HNRNPU	ZBTB20	UGDH	AFF3	GPC4	PRKAR1A	HIVEP2	FOS	GNE	ZNF699	TERT	RAB18	NANS	PAX3	MITF	SMARCB1	ASXL3	ABCA5	FBXO28	EHMT1	NDUFS7	AMMECR1	WAC	STAG1	NUS1	ASXL1	SPOP	HDAC8	TRIM8	ARL3	WNT4	NAGLU	ARID1B	NDUFA13	SDHA	NDUFS2	MT-TH	MT-TL1	AIP	MED13	TWIST2	SMARCA4	NDUFB8	KCNN3	PHF8	CCDC47	COX15	TP53	CHSY1	AFF4	ANKRD11	CWF19L1	GNS	KDM1A	SMARCA2	SMPD4	NDUFA2	UROS	TMEM94	BMP2	RAI1	SMC1A	TAF1	SNX14	PHIP	VPS33A	ZNF407	CHRNA7	MAPK1	DPAGT1	VPS37A	NDUFA12	TRAPPC10	MTFMT	SNAI2	CHMP1A	CDC42	CREBBP	POLR3A	TRAIP	NDUFAF2	MAPRE2	ASXL2	ZNF711	SMCHD1	IDS	RUSC2	HSPA9	NSUN2	PSMD12	FBXO31	PSMB8	EDN3	PPP1R15B	IQSEC2	FOXRED1	TBCD	PPARG	KNSTRN	PACS1	SRD5A3	PIK3CD	NEU1	FLII	RAC1	KATNB1	NMNAT1	TUBGCP2	MED27	KMT2A	CTSC	HFE	UBE2A	MT-ND6	ARID1A	NDUFA10	PACS2	UROD	KRT10	BAP1	TRIO	NECTIN1	CDH11	OGT	EBF3	EMC10	PRKG2	FHL1	BCAS3	TFE3	SGSH	SCO2	MT-TS2	UGP2	SMARCC2	GNA14	PIGN	CDH2	NDUFS3	BICRA	MAP1B	CAVIN1	CHD5	SPEN	SUZ12	HGSNAT	SMARCD1	MT-TQ	XYLT1	HEATR3	CSNK2A1	IL1RAPL1	NDUFA4	ZIC2	FGFR1	RAD21	CDKL5	MT-ND5	LTBP3	ZNF292	KDM4B	SETBP1	TMEM147	CDC42BPB	SPTBN1	NDUFS1	CUL4B	DHX30	NUDT2	NIPBL	LIPT1	KLF13	GNB2	PCDHGC4	IGF1R	HID1	SLC29A3	UBR7	TTI2	HMGA2	INSR	KIT	DOCK7	MT-CO1	ZMYND11	SLC1A4	TACO1	ATP6V1B2	EDNRB	SOX11	TAF6	SOX4	NDUFV1	FGF3	KCNH1	FREM1	TASP1	CDK10	SLC19A3	CDON	SMS	PDHA1	DDB1	SMC3	SURF1	SETD5	ASH1L	GATA1	NDUFAF3	TRMT1	NFIX	UQCC2	IL6ST	CKAP2L	TOE1	B3GLCT	NDUFS8	CERT1	PPOX	MAPK8IP3	TRMT10A	SLC25A24	COG7	CTNNB1	BPTF	NOTCH2	PET100	ARID2	KIFBP	EP300	NDST1	RPS23	GJA5	KNL1	NDUFAF6	MAN2B1	ERLIN2	MT-CO2	ABCC9	GLB1	LEMD3	KCNMA1	USP9X	BSCL2	CDKN2A	GJB4	MT-TF	DPF2	ALG9	RNF125	GJA8	GPC3	SMARCE1	PIGU	TLK2	MBD5	SRCAP	PRR12	RAB3GAP1	MAB21L1	ECHS1	PUF60	ARX	TRAPPC9	NDUFS4	PSMC3	GPR101	SOX10	MT-CO3	NDUFAF5	CAV1	MT-TW	AGPAT2	TBCK	WBP11	MT-ND1	TALDO1
HP_PYODERMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PYODERMA	IL10RA	LAMA3	BTK	LAMC2	LAMB3
HP_ABNORMALITY_OF_SKIN_PIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SKIN_PIGMENTATION	KRT14	MT-ND4	KITLG	SDHD	OCA2	LMNA	ZNF699	TYR	PAX6	TERT	NDUFB11	PTPN11	SETD2	SALL4	HFE	GNPTAB	PRKAR1A	LAMTOR2	CDKN1B	AP3D1	MSH2	SEC23B	HPS6	POMC	STEAP3	UVSSA	MITF	ZMPSTE24	AAAS	GP1BB	GNAS	ADH5	GJB6	NOP10	TNFRSF11A	FANCC	TINF2	PALB2	KRAS	BLOC1S6	CREBBP	LZTR1	BRCA2	LRBA	CYP11B1	TP63	TRIP13	CHN1	USP8	CSTA	GALC	HPS1	WDR45	LYST	EDARADD	IGF1	UBE3A	IL12RB1	APC	CTSC	FGFR3	POFUT1	MAD2L2	PIK3CA	KIF1B	SMARCAL1	ACP5	CTNNBL1	IL12A	KIT	NLRP1	BRIP1	NNT	MPL	USP48	USB1	ERCC3	MAFB	NDN	SNAI2	ATP2A2	GNA11	MAP2K2	PPP1CB	TFR2	JAK3	SPRED1	KDM5C	SOX10	MT-ND5	IKBKG	SDHA	SNORD115-1	ABCC9	ATP7A	HPS3	DHX30	GJB3	NBN	LRMDA	CDKN2A	DDB2	KMT2D	ATP6V1B2	MLPH	ERCC2	SLC40A1	ABCD1	CBL	FANCI	AIRE	TMC8	PLXND1	SDHC	DSTYK	ERCC8	PARN	SETBP1	BMP2	NRAS	SEC24C	WASF1	PTEN	CD28	SLCO1B1	GPR143	MAPRE2	HAMP	ERCC6	CAV1	MT-TF	DCPS	SNRPN	MAGEL2	FAS	IGF2	IRF5	MC2R	XPC	HRAS	PCSK1	APOE	ACD	HBB	PLCG2	SIM1	TXNRD2	RAF1	ERCC5	BUB1	NCF4	PHIP	TSC2	DNASE1L3	CBS	TSC1	PAH	COL3A1	NF1	MKRN3	HMGA2	IL6	FGFR2	RBM28	GNAQ	RRAS2	TBX1	MT-TH	STK11	BLOC1S5	HCCS	EDA	BUB1B	TNFRSF1B	SHOC2	POLH	MRAS	IRF4	UROS	ERCC4	IFNG	FANCL	GTF2H5	TP53	AP3B1	PIDD1	SOX18	RAB27A	SEC23A	KLHL24	TOP3A	TYRP1	PTCH2	RERE	EDNRB	NR0B1	UBE2A	PORCN	UROD	WDR73	ALG3	SDHB	PSENEN	DKC1	TUBB	SMG8	KRT5	HERC2	PROC	PIGN	FGFR1	CDKN2C	SUZ12	XRCC2	MYO5A	SLC45A2	C1S	NSUN2	RPS27	PCNT	SGPL1	ST3GAL5	ANTXR2	TWIST2	HIRA	SLC29A3	PTPN22	INSR	MT-CO1	EDAR	BRAF	KCNH1	SKIC2	ARVCF	LAMB3	NCF2	NR3C1	FANCF	CARS1	NFIX	DCT	SMO	HPS5	TYMS	BANF1	MC1R	ACTB	MAP2K1	TRAPPC11	CDKN1C	SH3PXD2B	RNF113A	NOTCH3	CWC27	LIFR	FANCM	MMEL1	DUOX2	CARD14	FERMT1	LEMD3	PIGA	LAMA3	CDK4	AKT1	ALAS2	CDH3	IDUA	JMJD1C	PDE11A	CXCR4	TNFRSF1A	FANCE	FANCG	POT1	NF2	ANAPC1	MT-CO3	PLEC	LAMC2	BTNL2	TUBGCP6	WBP11	RPA1	MT-ND1	CYP11A1	FANCB	HLA-DRB1	POLA1	SLCO1B3	UBE2T	NHP2	RIT1	RECQL4	MAX	KIAA0319L	COL17A1	CTNS	RET	SPIB	CASR	TCF4	MT-TL1	TERF2IP	LIG4	MMP2	CCN2	RREB1	KAT6A	RRAS	RTEL1	CYBB	MTX2	DST	GJA1	CYBC1	PDGFRA	PTCH1	KNSTRN	SRD5A3	MAN1B1	RAD51C	PAX3	CTC1	GTF2E2	SKIC3	APC2	ZFHX4	BAP1	MT-ND6	BLOC1S3	NPM1	FANCA	CDH23	MT-TS2	SLC27A4	RFWD3	MT-TQ	SLC6A19	VHL	SVBP	ERF	POU2AF1	BUB3	BMP6	SPTBN1	PWRN1	POGLUT1	MED12	GNB2	CCR6	WRAP53	PDE8B	PWAR1	POGZ	MRAP	CPOX	FKBP10	BRCA1	EPG5	NSD1	SMS	REV3L	LBR	PSAP	PANK2	STAR	TOE1	PPOX	SPINK5	BLM	COMT	HJV	GBA1	TNFRSF11B	EP300	ATRX	ATM	ABCB6	ALDH3A2	CHRNA7	DCLRE1C	RDH11	EDN3	ERCC1	CAT	SET	GPNMB	CDKN1A	OCRL	SMARCA2	EZH2	MEN1	ZPR1	SMARCAD1	KCNN3	ITGB4	GPR101	SASH1	SOS1	ANTXR1	COL25A1	TERC	TP53RK	CTLA4	THPO	PDGFRB	FANCD2	HPGD	FOXD3	KDM6A	CLCN7	MLH1	SEMA4A	MTOR	COX7B	COL7A1	NCF1	AIP	HPS4	CYBA	CEP57	CLTRN	CDKN2B	MAPK1	TMC6	VPS13B	PSMB8	MPLKIP	SLX4	UBR1	PIK3CD	SLC24A5	EED	HGD	ATP10A	TNPO3	MCM4	TFE3	PROS1	DTNBP1	TNFSF15	KDM6B	TGM5	SLC17A5	NOD2	NPAP1	ESCO2	USF3	BTK	MFRP	PLAG1	H4C5	SNORD116-1	IL7	SLC35A2	C1R	DDX3X	LIPE	XPA	B4GALT7	MGMT	SOS2	FLNA	GJB4	TARS1	SPRED2	SUFU	CIB1	GATA1	KIF15	TRAF6	DNAJC21	RASA2	KDF1	CACNA1F	HSD3B2	ARL6IP6	FBN1	EMC1	PRKACA	KANSL1	MT-CO2	PDE4D	PMS2	KDSR	USP9X	RBBP8	CRIPT	TMEM127	COPB1	MSH6	EBP	KLLN	GMPPA	MT-TW	RAD51	UFD1	ADAR
HP_ABNORMALITY_OF_SUBCUTANEOUS_FAT_TISSUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SUBCUTANEOUS_FAT_TISSUE	POLR3A	AKT1	PIK3CA	SOX18	MEN1	ALMS1	TBL1XR1	AGPAT2	ATRX	TOP3A	PRKACA	LMNA	ATP6V1E1	PTEN	USP8	CAV1	PPP1R15B	BMPR1A	GNB2	COL1A1	NAA10	ZMPSTE24	BSCL2	IGF1R	ADAMTS2	PDE8B	H4C5	SLC2A2	ERCC8	ATP6V0A2	RBM28	CDKN1B	SLC25A24	ATP6V1A	TP53	TGFB3	PRKAR1A	PDE11A	TGFB1	KCNK9	TRMT10A	ARMC5	PLIN1	INSR	FBN1	ADAMTSL2	BRAF	COL1A2	ERCC6	NR3C1	PMM2	CDH23	SKI	PPARG	GNAS	PTF1A	PHGDH	ALG8	FGFR1	USP48	LEMD2	FH
HP_MULTIPLE_LENTIGINES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_LENTIGINES	PRKAR1A	KITLG	BRAF	PTPN11	KRAS	NRAS	RAF1	SMARCAL1	STK11	PDE11A	MAP2K2	MAPK1	DSTYK	MAP2K1	SHOC2
HP_LYMPHEDEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LYMPHEDEMA	RASA1	DNMT1	BCL2	IKBKG	KRAS	INPPL1	GATA2	ADAMTS3	EPHB4	ANTXR2	NRAS	SPG11	FAT4	CCBE1	ZNF408	PTPN11	CBL	TSC1	BRAF	FZD4	RRAS2	SOX18	TSC2	SOS2	LBR	BCL6	GLA	CDK5	TSPAN12	PTEN	LRP5	ANGPT2	SPRED2	XYLT2	FOXC2	RRAS	MRAS	RIT1	PMM2	RASA2	VEGFC	CTNNB1	MAP2K2	MAPK1	RAF1	CDC42	MAP2K1	AKT1	LZTR1	PTPN14	PIEZO1	DCHS1	SHANK3	NAGA	ABCC9	NAA10	KIF11	KIF7	PIK3CA	LEMD3	GJC2	TIE1	MDFIC	NLRP3	CELSR1	HLA-DRB1	SLC35D1	FLT4	SOS1	RELN	HRAS	NDP	GUSB
HP_DERMATOLOGICAL_MANIFESTATIONS_OF_SYSTEMIC_DISORDERS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DERMATOLOGICAL_MANIFESTATIONS_OF_SYSTEMIC_DISORDERS	SCN2A	EPB42	POU1F1	YARS1	CTCF	SLCO1B3	ABCC2	BRCA1	CITED2	TSHR	USP53	SFTPB	LRP4	JAK2	PRF1	ETFA	RNASEH2C	GPI	SLC25A20	RAB27A	SETD2	ABCB11	AKR1D1	TP53	NPC2	DZIP1L	PEX14	SPOP	CCDC115	CASR	PEX26	SCN9A	SPIB	TCF4	GALE	PSAT1	HMGCL	ZIC3	PUS3	ATP7B	SLCO1B1	SEPTIN9	KCNQ3	MMP21	PTPN3	PEX16	COX4I2	SPTB	RINT1	SLC10A1	ABCA3	HNF1B	FCGR3B	RNASEH2B	CHRND	MUSK	TPO	ABCB4	CALR	LBR	SLC25A13	TXNDC15	IYD	PRRT2	VIPAS39	USP8	ZFYVE19	UGT1A1	CPA1	SLC26A4	VPS33B	ACTC1	DUOXA2	IL12RB1	RHAG	SKIC3	APC2	ATP8B1	ALDOB	LHX3	KCNN4	ETFB	HBB	IL12A	CDH23	SLC4A1	DCDC2	SLC37A4	USP48	ATRX	EIF2AK4	SCN1B	GATA4	LMNA	ENPP1	MT-CYB	NR1H4	POU2AF1	NUP214	GATA6	F5	SPTBN1	PKLR	SLC16A2	KMT2E	BRCA2	LYST	PDE8B	TG	KRAS	PKHD1	CPOX	CYB5A	RHCE	PRKAR1A	KYNU	DHFR	FLI1	NSD1	SLC25A1	CHAT	PFKM	PEX5	CTRC	SP110	LSM11	UNC45A	COG7	CYB5R3	SCN8A	KIF23	ATP6AP1	DGUOK	IL18BP	SLC30A10	ETFDH	CHRNE	PRSS1	DAXX	NAA10	CLDN1	HBG2	MPV17	COL13A1	GYPC	ANK1	ARMC5	UROS	PAX8	DUOX2	ELP1	VHL	SYT2	COL5A1	HK1	GALT	CHRNA1	GABRA1	ETHE1	EIF2AK3	PCK1	ATP7A	POLG2	TMEM260	UNC13D	TBX20	RHD	PLXND1	GJA1	EPB41	ABCC6	NKX2-5	PROC	TSHB	HBA1	SLC44A1	MYO5B	RNU7-1	PRSS2	MVK	ATP6AP2	GALM	PAX3	HYOU1	SPTA1	AGRN	ADAMTS13	LIPA	NDUFS4	TRHR	SPINK1	PEX3	OCLN	SH2B3	KCNQ2	STXBP2	TFAM	PEX1	SLC5A7	ARL13B	AK9	JAG1	PRKAG2	ACADVL	SLC34A2	STX11	PEX6	MMACHC	GPR35	HSD3B7	ADAMTS19	TLL1	CFTR	PEX19	VAMP1	SLC2A1	PCDH19	CDKN2A	PRPS1	TREX1	NKX2-6	ATP11C	PEX13	RABL3	CYP7B1	MED12	TNPO3	DOK7	PROP1	PIEZO1	COL1A1	PEX2	TNFSF15	GH1	GSN	ALG6	MYO9A	RBM10	ENG	GTPBP3	TULP3	PEPD	PALB2	COL5A2	HTRA2	RNASEH2A	IER3IP1	LHX4	PEX11B	SLC18A3	HSD17B10	SEC23B	G6PD	TBX19	PEX12	AMACR	PLD1	CHRNB1	ACVRL1	PDE11A	KRT18	ALDOA	HLA-DRB1	CDAN1	TPI1	FOCAD	BRAF	IL2RG	PALLD	KIF12	PEX10	SCN4A	SCN1A	NR3C1	ZMPSTE24	GABRG2	SLC25A3	SNAP25	IRF5	SLC5A5	AGXT	PARS2	GALK1	CASK	GRIK2	GCLC	MST1	GLRX5	HESX1	SMAD4	PIGA	CYP27A1	PRKACA	MYH6	MMEL1	ABCD3	NPC1	TTC26	IFIH1	DEF6	RAPSN	SAMHD1	ADAR	DPAGT1	LPL	SMPD1	SEMA4D	FUZ	PROS1	SFTPC	RNU4ATAC	GNAS	BAAT	TRMU	SLC51B	RPS6KA3	SERPINA1	CDIN1	NBAS	FUCA1	PKD2
HP_HIRSUTISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIRSUTISM	BRD4	NR3C1	BBIP1	ERCC6	MGAT2	ARSB	HSPG2	RPL10	LMNA	PRKAR1A	HIVEP2	GNE	CASZ1	EP300	LMNB2	IPO8	NANS	MEG3	SMARCB1	BBS10	BBS12	ABCA5	CEP19	MC1R	NKX6-2	IDUA	SPEN	KDM6A	WAC	RAB18	SKI	TP53	HDAC8	H6PD	WNT4	NAGLU	ARID1B	SETD2	CDK5	NPHP1	LZTFL1	AIP	BBS5	SMARCA4	MMP2	PAPSS2	GNS	WDR81	BCL11B	SMC1A	TAF1	HNRNPR	NFIX	CNP	VPS33A	MAPK1	CYP19A1	TBC1D20	CREBBP	POLR3A	LRPPRC	WDPCP	PPP1R21	CFAP418	USP8	GJA1	BBS1	RAB3GAP2	SMO	CYP11B1	PRDM16	TBCD	LUZP1	GLB1	PPARG	SDCCAG8	ASXL3	MKS1	KMT2A	CTSC	UBE2A	CLN3	ARID1A	TRIO	GATA1	ADAMTS2	PDPN	EMC10	PRKG2	MMP14	TUBB	IRF6	KCNAB2	SLC25A12	SGSH	CCBE1	CDH23	PLAA	SMARCC2	INSR	USP48	MAP1B	HGSNAT	SMARCD1	XYLT1	CAVIN1	PEPD	BBS2	FSHR	RAD21	ALMS1	ARX	RERE	NIPBL	GABRD	TRIM32	FGFR2	GJB3	GNB2	CAPN15	SLC25A24	BSCL2	PDE8B	ABCC9	OFD1	MAP3K1	PRKCZ	RIN2	CACNA1G	KMT2D	FRMD4A	IFT74	TAF6	SOX4	MKKS	CNOT2	DLK1	PDE11A	TASP1	ARL6	GJB4	POR	BRAF	PTEN	SMC3	TTC5	BMP15	KCNJ8	TBX15	ATP6V1B2	CKAP2L	SETBP1	TOE1	GLI3	MMP23B	SHROOM4	HSD3B2	FLNA	ASXL1	TWIST1	TP63	NOTCH2	AFF4	CCDC28B	ARID2	AKT1	RAB3GAP1	FUT8	AGPAT2	IFT27	ATRX	MOGS	PRKACA	IFT172	NRAS	CAV1	ELMO2	UBE4B	BBS7	KDSR	CPOX	TTC8	SOX6	BBS9	MAPRE2	SMARCD2	RTL1	DPF2	SMARCE1	SOX11	MBD5	COPB1	KCNH1	SCAPER	SRCAP	GUSB	ARMC5	BBS4	AIMP2	MAB21L1	CEP290	OTUD5	WASHC4	GPR101	GNAS	TWIST2	ADNP	TBCK	MAP3K7	SUCLA2
HP_TELANGIECTASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TELANGIECTASIA	LIG4	RASA1	IARS2	BLM	HLA-DRB1	TREX1	SDHD	COL3A1	DIAPH1	MT-ND2	CASZ1	STN1	EPHB4	PIGY	ZNF408	TERT	KIT	SPEN	KIAA0319L	PIGV	FZD4	ENPP1	SKI	SEC23B	HSPG2	UVSSA	MT-ND4	GLA	POLD1	NHP2	GDF2	CCN2	NOP10	PARN	POLH	PIK3CA	HFE	TINF2	SMAD4	MT-CO1	MT-ND1	CYLD	DPM1	CTNNB1	RTEL1	ERCC3	ARX	ACVRL1	SOX18	FERMT1	TMC6	GPR35	SLC2A10	SETX	LBR	BMPR2	STING1	ABCC6	FRG1	NAGA	MT-CYB	PRDM16	LUZP1	TALDO1	ARPC4	USB1	CCM2	XPC	CTC1	MT-CO3	PORCN	PDPN	WRN	NPM1	CTSA	KCNAB2	RECQL4	XRCC4	NEU1	PTEN	ATRX	ENG	NDP	ATM	PEPD	GNA11	ACTA2	MT-ND5	RERE	SDHB	GABRD	STXBP1	ANTXR2	VPS53	ERCC2	USF3	MT-ND6	CCR6	SLC29A3	WRAP53	DDB2	CAV1	IL7	DNAJC30	PRKCZ	PEX6	LMX1B	POLE	XPA	DKC1	TSPAN12	LRP5	NDUFS2	ATR	TCF4	CIB1	TMC8	IRF5	PGAP2	MMP23B	PCNA	TYMS	ARL6IP6	BMP2	GNPTAB	ERCC4	MST1	COL7A1	ERCC6	WNT10A	RNF168	RNF213	ELMO2	UBE4B	DAXX	PIGW	PGAP3	AKT1	NF1	PIGO	MT-ATP6	SEMA4D	GNAQ	MASP1	SLC37A4	ANAPC1	KLLN	MT-ND4L	LMNA	ERCC5	LIG1	SDHC	PIGL	TERC	IKBKG
HP_HYPOPIGMENTATION_OF_THE_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPIGMENTATION_OF_THE_SKIN	UBE3A	CBS	KITLG	FANCB	BLM	LAMTOR2	HLA-DRB1	TSC1	EDNRB	PAH	SNRPN	SDHD	UBE2T	OCA2	MKRN3	ZNF699	TYR	PAX3	TERT	NDUFB11	SOX10	RAB27A	MC1R	SETD2	SALL4	GNPTAB	KIAA0319L	AP3D1	CLCN7	TBX1	SEC23B	CTNS	MAGEL2	HPS6	MLH1	POMC	MTOR	SNAI2	MITF	COX7B	TCF4	GP1BB	KIT	NHP2	BLOC1S5	HCCS	HPS4	RECQL4	CCN2	TNFRSF1B	NOP10	RREB1	PARN	POLH	UROS	TINF2	IFNG	KRT5	AP3B1	CLTRN	RTEL1	PALB2	ERCC3	BLOC1S6	FERMT1	TMC6	BRCA2	FGFR2	KLHL24	CHN1	TYRP1	TP63	GALC	HPS1	ABCB6	WDR45	LYST	RAD51C	SLC24A5	KRT14	USB1	FANCD2	XPC	CTC1	PCNT	CTSC	SKIC3	APC2	UBE2A	ZFHX4	POFUT1	WDR73	BLOC1S3	ALG3	MAD2L2	PIK3CA	KRAS	PSENEN	ATP10A	NPM1	FANCA	FANCI	ACP5	TFE3	HERC2	DTNBP1	BRIP1	PIGN	RFWD3	EPG5	MAFB	XRCC2	MYO5A	NDN	SLC45A2	SLC17A5	SLC6A19	NPAP1	ERF	CTLA4	SNORD115-1	SPTBN1	ABCC9	ATP7A	HPS3	SDHB	UROD	PWRN1	POGLUT1	USF3	TWIST2	HIRA	CCR6	BTK	WRAP53	LRMDA	PTPN22	SNORD116-1	DDB2	IL7	SLC35A2	PWAR1	LIPE	MLPH	XPA	ERCC2	BRCA1	SKIC2	DKC1	NSD1	ARVCF	SMS	FANCF	CIB1	AIRE	GATA1	TMC8	PSAP	TOE1	DCT	SMO	PPOX	CACNA1F	HPS5	COMT	TYMS	ERCC4	SEC24C	FANCM	NRAS	SLX4	KANSL1	PTEN	CD28	TSC2	FANCL	EDN3	CAV1	CRIPT	LEMD3	AKT1	DCPS	OCRL	FAS	IRF5	ZPR1	JMJD1C	FANCE	FANCG	PCSK1	APOE	FGFR3	EBP	ANAPC1	HRAS	KLLN	SASH1	PORCN	SIM1	BTNL2	LMNA	RAD51	ANTXR1	ERCC5	UFD1	COL25A1	FANCC	ADAR	SDHC	TERC	IKBKG
HP_MULTIPLE_LIPOMAS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_LIPOMAS	SPRED1	PIK3CA	MEN1	LEMD3	MT-TH	MT-TF	APC	FUZ	PTEN	TBXT	ABCC6	BMPR1A	FLCN	MT-TK	KRAS	CDKN1B	MSTO1	ENPP1	MT-RNR1	CDKN1A	ALX3	MT-TP	MFN2	FGFR1	VANGL1	MT-TQ	ALX1	MT-TL1	CCL2	AKT1	VANGL2	MT-ND5	AP2S1	CDKN2C	CDKN2B	ZSWIM6	GNA11	MT-TS2
HP_ANGIOKERATOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANGIOKERATOMA	FUCA1	NAGA	MANBA	GLB1	AGA	GLA
HP_ANEMIC_PALLOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANEMIC_PALLOR	FANCA	SMAD4	FANCD2	BMPR1A	ALAS2	FANCC	FANCE	ENG
HP_ABNORMAL_PALMAR_DERMATOGLYPHICS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PALMAR_DERMATOGLYPHICS	BRD4	EXTL3	TSEN2	ITCH	IFT122	GDF5	RPL10	GLYCTK	CTCF	POLRMT	IFT43	AFF3	PEX3	LTBP4	MYOD1	FLNA	FGD1	BMP4	MEG3	RNU4ATAC	FBXO28	KRAS	DPYD	EHMT1	CTBP1	PEX5	STAG1	MEGF8	DPH1	CLCN7	TCF12	VPS51	HDAC8	TRIM8	ARL3	ARID1B	PEX10	THOC2	TCF4	ATP6V0A2	FGFRL1	AIP	SMOC1	SMARCA2	TBL1XR1	H4C9	G6PC3	ANKRD11	EXT1	B4GALT7	MED12	SHOC2	CEP57	SMPD4	RBM10	PEX1	SMC1A	PTPRF	BHLHA9	FGFR3	TYMS	MAP2K2	MUSK	DSE	TUBA1A	CREBBP	ASXL2	MTX2	FGF9	NDUFB11	TRPS1	GLE1	PIEZO2	NUP88	YY1	TWIST1	NALCN	BRF1	BCOR	RAB11B	TSEN54	RIN2	DLX4	UBR1	APC	IGF1	ASXL3	CD96	KATNB1	DLK1	HRAS	PEX6	KAT6B	GATA1	RTL1	PORCN	TRIM37	PEX12	TRIO	NECTIN1	TPM2	CHD7	FOXP1	SLC39A13	ATR	WAC	SLC25A12	CCBE1	DOCK6	PLAA	DDX11	GRIN1	ZMYM2	PEX11B	FIG4	MAP1B	TFAP2A	CEP55	PEX2	ROR2	PEX16	AUTS2	HCCS	RAD21	LETM1	CPLX1	ZNF292	KDM4B	SETBP1	TMEM147	CDC42BPB	CSGALNACT1	SPTBN1	NGLY1	DHX30	NIPBL	NAA20	STXBP1	RIPK4	MYH3	BMPR1B	GNB2	NBAS	PPP2CA	UBR7	VPS33A	TELO2	NAA10	FGFR2	HNRNPK	BRAF	ATP6V1B2	TSEN15	NSD2	LMX1B	TAF6	ALDH6A1	PNPLA6	SPRED2	KCNH1	NOG	UBE3B	PACS1	H3-3A	TASP1	KCNK9	CDK10	TNNT3	PUF60	PEX19	PDHA1	SMC3	TGDS	LTBP1	CHST3	HDAC4	ADAMTSL1	TSEN34	NUP107	CKAP2L	TOE1	B3GLCT	WDR37	ESCO2	VPS13B	NEXMIF	SLC25A24	NUP188	VAC14	ASXL1	TNNI2	MEF2C	LONP1	PKDCC	DOK7	EP300	COX14	RPS23	GJA5	PEX13	LIFR	IFT57	DPH2	SPECC1L	COX7B	XYLT1	PEX26	PLOD3	PEX14	MAP3K7	MSL3	MCTP2	PPP2R3C	SET	SLC18A3	NXN	GJA8	DPAGT1	ZNF462	PRR12	MTOR	NSDHL	OTUD5	SMARCAD1	KCNN3	MAP2K1	RAPSN	MED25	SMAD2	OFD1	PIGS	DIS3L2	CHST14	CDK19	GPR101	CILK1	PEPD	TBX4	ADNP	SMS	RPS6KA3	SEPSECS	PPP3CA
HP_ERYTHRODERMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERYTHRODERMA	RAG2	UNC13D	EXTL3	CD247	CD28	CDSN	ERCC3	ERCC2	TGM1	FOXP3	CYP4F22	RNF113A	EBP	ADAM17	CTLA4	SPINK5	LSS	CARD14	DCLRE1C	GJB3	PRF1	MPLKIP	ADA	ALOX12B	KIT	PNPLA1	DIP2B	IL7R	RMRP	ABCA12	TNFRSF1B	RBCK1	GTF2E2	SULT2B1	KRT1	ALOXE3	CERS3	KRT10	RAG1	TARS1	ELOVL4	IL2RA	NIPAL4	LIG4	AP1B1	MPDU1	CHD7	MBTPS2	CARS1	STXBP2	SLC27A4	STX11	CD3D	DSG1	GTF2H5	GJB2	IL2RG	ASPRV1	CD3E	SDR9C7	LIPN	TOM1
HP_ALBINISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALBINISM	HPS6	MITF	TYR	BLOC1S3	EDNRB	BLOC1S5	HPS3	TYRP1	OCA2	HPS4	DTNBP1	HPS1	WDR45	LRMDA	MC1R	AP3B1	EPG5	CACNA1F	HPS5	AP3D1	SLC45A2
HP_URTICARIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URTICARIA	FOXP3	NLRP3	POU2AF1	CASP10	WIPF1	FAS	ERCC5	KIT	ELOVL4	PRKCD	SPINK5	MMEL1	ALDH3A2	ANTXR2	CARMIL2	GNB2	SERPING1	NLRC4	PIGT	MVK	NLRP12	CBL	SRSF2	CBS	IL12RB1	IFIH1	FASLG	WAS	ASXL1	HLA-DQB1	RUNX1	HLA-DRB1	SPIB	RASGRP1	ERCC2	MYD88	ADGRE2	SDHB	TNPO3	IL12A	TET2	MBTPS2	SLC27A4	ERCC4	RAC2	SUPT16H	IRF5	SF3B4	PLCG2	TNFSF15	ERCC3	SDHC	ALPK1
HP_PENETRATING_FOOT_ULCERS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PENETRATING_FOOT_ULCERS	SBF2	F12	ATL3	ATL1	SPTLC2	SPTLC1
HP_SOFT_DOUGHY_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SOFT_DOUGHY_SKIN	COL1A1	B3GALT6	INPPL1	MGP	SLC2A10	ADAMTS2	IARS1	COL5A1	MICU1	COL5A2	XYLT1	SON	COL1A2
HP_POIKILODERMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POIKILODERMA	ERCC2	FERMT1	DDB2	IARS2	CTLA4	MTX2	ERCC4	ERCC5	ANAPC1	FAM111B	COL7A1	XPA	LMNA	XPC	RECQL4	TNFRSF1B	POLH	CD28	USB1	ERCC3	ERCC6	BLM	RNU7-1
HP_FRAGILE_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRAGILE_SKIN	COL7A1	ITGB4	FERMT1	JUP	ITGA3	CHST14	PLEC	MMP1	COL5A2	B3GALT6	LAMC2	UROD	KRT5	C1R	LAMB3	DSP	PRKACA	PKP1	CPOX	COL17A1	COL3A1	PLOD1	HFE	ADAMTS2	C1S	COL1A2	LAMA3	KRT14	EXPH5	GATA1	COL1A1	UROS	COL5A1	PDGFRB
HP_SUBCUTANEOUS_LIPOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBCUTANEOUS_LIPOMA	PIK3CA	CDKN1B	MEN1	PTEN	FGFR1	BMPR1A	AKT1
HP_ABSENT_DISTAL_INTERPHALANGEAL_CREASES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_DISTAL_INTERPHALANGEAL_CREASES	HOXD13	TLK2	LMX1B	RBBP8	IHH	TPM2
HP_PARAKERATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARAKERATOSIS	LORICRIN	ELOVL1	LDHA	CYP4F22	TGM1	TRPM4	RHBDF2	MVK	MVD	CARD14	SPINK5	NSDHL	GLS	KRT74	NIPAL4	MBTPS2	PIK3CA	PERP	DSP	IL36RN	NLRP1	CDSN	CLDN1	PMVK	FLG2	ERCC6	KRT5	TRPV3	KRT13	POMP
HP_FACIAL_ERYTHEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_ERYTHEMA	RHOH	KCNQ2	GNB2	ANAPC1	AIP	USP8	BLM	RECQL4	MBTPS2	GJA1	ADGRE2
HP_VITILIGO	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VITILIGO	MT-ND4	MT-ND6	FAS	KANSL1	KITLG	MT-ND5	MT-TH	LRBA	ACP5	MT-TL1	EMC1	CXCR4	CTNNBL1	DSTYK	MT-CO2	DCLRE1C	NLRP1	SLX4	MT-TS2	NBN	MT-CO3	PTPN22	FOXD3	MT-CO1	PLCG2	CAT	MT-TW	MT-TF	MT-TQ	POGZ	AIRE	MT-ND1
HP_INTERMITTENT_JAUNDICE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERMITTENT_JAUNDICE	ABCB11	PIEZO1	KCNN4	SLC4A1	SLCO1B3	SPTB	SLCO1B1	RHAG	ATP8B1
HP_ATOPIC_DERMATITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATOPIC_DERMATITIS	IGKC	LRRC32	TBC1D2B	SRCAP	RRAS2	JAK1	CARD11	ABCC9	BRAF	SCNN1G	KRT74	HSPA9	IL6ST	SCNN1A	CFTR	PGM3	MORC2	DOCK8	GNB2	IPO8	SCNN1B	CDSN	KRT1	FOXN1	IGHG2	IFIH1	ZNF341	IL6R	NEK9
HP_CAVERNOUS_HEMANGIOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAVERNOUS_HEMANGIOMA	NRAS	ATP2B1	DNM2	MTMR14	PIK3CA	SDHD	ENG	SDHB	GDF2	BRAF	MYF6	MAP2K1	KRIT1	USF3	PTEN	NOTCH1	IDH1	SMAD4	RYR1	KLLN	KRAS	HRAS	HOXD13	GNPTAB	BIN1	MAP2K2	AKT1	CCM2	SDHC	ACVRL1	TEK	PDCD10	SEC23B
HP_PLETHORA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PLETHORA	CDH23	TP53	PRKAR1A	PDE11A	PDE8B	GNAS	ARMC5	JAK2	USP48	BRAF	ATRX	PRKACA	USP8	NR3C1	SH2B3	VHL
HP_SEBORRHEIC_DERMATITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEBORRHEIC_DERMATITIS	C5	RBM8A	TMC6	TRAF3IP2	SEC24C	HPGD	GP1BB	ARVCF	PIGA	JMJD1C	TKT	BTD	PIK3CA	RREB1	ZNF750	CIB1	CARMIL2	TMC8	HIRA	MCCC2	TBX1	SLC39A7	IL7	SLCO2A1	COMT	UFD1
HP_HYPOPIGMENTED_SKIN_PATCHES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPIGMENTED_SKIN_PATCHES	PAX3	ERF	SOX10	KITLG	CTLA4	FANCB	BLM	HLA-DRB1	SDHD	ABCC9	PCNT	UBE2T	SDHB	KRT5	USF3	TWIST2	HIRA	CCR6	BTK	WRAP53	TERT	NDUFB11	PTPN22	KIT	MC1R	DDB2	IL7	SALL4	KIAA0319L	TBX1	XPA	SEC23B	ERCC2	BRCA1	MTOR	DKC1	COX7B	TCF4	GP1BB	ARVCF	NHP2	HCCS	CCN2	FANCF	TNFRSF1B	NOP10	RREB1	PARN	CIB1	AIRE	TMC8	PSAP	KRT14	TINF2	TYR	SMO	EDNRB	CLTRN	RTEL1	PALB2	COMT	ERCC3	TYMS	SNAI2	FERMT1	TMC6	BRCA2	ERCC4	FGFR2	SEC24C	CHN1	FANCM	NRAS	SLX4	PTEN	GALC	CD28	FANCL	ABCB6	EDN3	CAV1	CRIPT	RAD51C	AKT1	USB1	FANCD2	XPC	CTC1	CTSC	UBE2A	FAS	MAD2L2	PIK3CA	IRF5	NPM1	FANCA	JMJD1C	FANCI	ACP5	FANCE	MITF	FANCG	FGFR3	EBP	BRIP1	KLLN	RAD51	RFWD3	MAFB	ANTXR1	XRCC2	ERCC5	UFD1	FANCC	SDHC	TERC	IKBKG	SLC6A19
HP_NUMEROUS_NEVI	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NUMEROUS_NEVI	BRAF	KANSL1	PCGF2	STK11	NRAS	PIK3CA	CDK4	FGFR3	HRAS
HP_ERYSIPELAS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERYSIPELAS	GJC2	MEFV	CCBE1	ADAMTS3	FAM111B	FAT4	KIF11	FLT4	TNFRSF1A
HP_MILIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MILIA	ITGB4	PTCH2	COL7A1	LIFR	LAMC2	COL17A1	MMP1	KRT5	FERMT1	KRT14	LAMA3	PLEC	OFD1	PTCH1	LAMB3	SUFU	SMARCAD1	PPOX	CYLD
HP_APLASIA_CUTIS_CONGENITA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_CUTIS_CONGENITA	UBA2	ITGB4	PLEC	EOGT	LETM1	CPLX1	KRAS	ALX4	NOTCH1	COL7A1	DLL4	COL17A1	MMP1	LAMC2	HSPA9	LAMB3	KCTD1	ITGA6	LAMA3	UBR1	ARHGAP31	MCTP2	CTBP1	KRT14	NSD2	KRT5	COX7B	MSX2	BMS1	FGFRL1	RBPJ	PIGG	DOCK6	DSP	ALG9	TAF1	TFAP2A	NELFA	ATP6V1B2
HP_POOR_WOUND_HEALING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POOR_WOUND_HEALING	TP53	F13A1	DDR2	COL1A1	SCN11A	ATL3	CD46	CFI	NTRK1	CEP104	BRAF	COL12A1	ATRX	COL5A2	HELLPAR	USP8	C1R	NR3C1	SPTLC2	COL1A2	CDH23	AEBP1	F13B	COL5A1	USP48	SPTLC1	F8	NGF	PLOD1	CFH	AIP	DSE	SERPINE1	ITGB2	GBA1	RAC2	ATL1	GJA1
HP_PTERYGIUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PTERYGIUM	ITGB4	MYH3	PLOD2	CHRNG	DOK7	ERCC4	HSPG2	BHLHA9	NHP2	NUP88	RIPK4	MYOD1	ALPK3	LMX1B	FKBP10	DDB2	IGF2	SLC18A3	XPC	XPA	ERCC2	PLEC	CHRNA1	GPC6	MMP14	DKC1	NOP10	ITGA6	IRF6	RAPSN	EFNB1	PITX1	PHGDH	MMP2	MUSK	ERCC5	IRX5	ERCC3	TUBA1A	CHRND	CHUK
HP_AXILLARY_PTERYGIUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AXILLARY_PTERYGIUM	ITGB4	EFNB1	GPC6	PLEC	CHRNG	RIPK4	MYH3	CHUK
HP_ACNE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACNE	NR3C1	XIAP	MEIS2	SH3PXD2B	SEC24C	KDF1	ATRX	ESR1	PRKACA	IL10	CCR1	USP8	LPIN2	ABCC6	POGLUT1	MEFV	AR	HLA-B	HIRA	IFNGR1	CYP11B1	TBX1	TLR4	PDE8B	PSTPIP1	WNT4	SLCO2A1	PSEN1	C4A	ECM1	HYOU1	KLRC4	ENPP1	IL12A	STAT4	TP53	CLN3	PSENEN	H6PD	PRKAR1A	PDE11A	FGFR2	IL23R	LHCGR	HPGD	ARMC5	POFUT1	GP1BB	AIP	ARVCF	BRAF	GJB2	JMJD1C	RBP4	AGA	PAPSS2	UBAC2	RREB1	KRT5	CDH23	GPR101	GNAS	USP48	IL12A-AS1	COMT	XYLT1	UFD1	NCSTN	FAS	ERAP1	GJB6	IKBKB
HP_STRIAE_DISTENSAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STRIAE_DISTENSAE	TP53	PRKAR1A	COPB1	PDE11A	SMAD3	ARMC5	FBN1	CUL4B	IPO8	BRAF	ATRX	PRKACA	COL5A2	ZNRF3	USP8	ABCC6	TGFBR2	NR3C1	CDH23	TERT	COL1A1	TGFB2	PDE8B	COL5A1	GNAS	USP48	SPEN	CDKN2A	TGFBR1	AIP	CTNNB1	DLG4	ENPP1	SMAD2
HP_NEUROFIBROMAS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEUROFIBROMAS	MLH1	NF1	NF2	SMARCE1	LRP1	BAP1	SDHB	SPTBN1	SMO	TRAF7	SPRED1	SUFU	PIK3CA	TERT	SMARCB1	AKT1	KIT	SDHC	PDGFB
HP_EPISODIC_HYPERHIDROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISODIC_HYPERHIDROSIS	NF1	ALDOB	SDHB	WNK1	SDHD	KCNJ11	FH	SCN9A	SDHC	VHL	SLC25A11	ABCC8	EPAS1	UCP2	TMEM127	KIF1B	MAX	ELP1	MDH2	KIF1A	DNMT3A	HNF1A	SDHA	RETREG1	RET	DLST	SDHAF2
HP_MOTTLED_PIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOTTLED_PIGMENTATION	RECQL4	RDH11	KRT14	ZMPSTE24	KRT5	LMNA	DUOX2	HPGD
HP_THICKENED_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICKENED_SKIN	KRT14	KRT1	NLRP3	ATP2C1	CIDEC	KITLG	TNNC1	FGF17	ARSB	POLA1	KRT2	GJB2	ABCC9	SDHD	MC4R	NHP2	TGM1	GLS	LMNA	RIT1	EPHB4	DES	DSG1	ALOX12B	FHL2	LEMD3	TERT	RIGI	KRAS	RMRP	FGFR2	PIGL	DSP	ELOVL4	SEC23B	ACTN2	POMC	RAG1	DSG4	AAAS	STS	ALOXE3	PEX3	FHL1	IL1RN	GJB6	NOP10	MMP2	PEX1	MBTPS2	RECQL4	PERP	ZMPSTE24	CCDC141	PARN	GNPTAB	SLURP1	LARP7	PMVK	ANKRD1	KRT5	VPS33A	CYP19A1	STIM1	ADAMTS10	COL6A2	FGFR3	POLR3A	ARSL	FERMT1	DDR2	LZTR1	ALMS1	MTX2	LBR	ANTXR2	PEX5	DUSP6	SCN5A	TP63	KRT74	VIPAS39	CSTA	GJA1	KRT16	TMPO	TRAF3IP2	NECTIN1	RIN2	VPS33B	GMPPA	SH3PXD2B	SRD5A3	KIF11	GINS1	COL7A1	MYPN	HRAS	PEX6	XPC	CTC1	ABHD5	GTF2E2	SULT2B1	CTSC	NAGA	TRPM4	GJC2	MSMO1	NEU1	KRT9	HLA-DRA	ADAMTS2	POFUT1	PIK3CA	WRN	NDNF	MVK	NPM1	MDFIC	PHYH	MCOLN1	ANOS1	SPRY4	AP1B1	ATP2A2	EXPH5	LTBP3	SLC27A4	EBP	FIG4	INSR	ZC4H2	CAVIN1	USB1	ESR1	BAG3	FLG	GATAD1	FLT4	SDR9C7	LIPN	TPM1	PTEN	CERS3	FBN1	ABCA12	IGKC	COL6A3	ERF	RHBDF2	ATL3	SREBF1	IKBKG	CUL4B	KRT17	SDHB	COL17A1	ERMARD	AP1S1	JUP	UROD	POGLUT1	TRIP4	ADA	FKTN	GJB3	CARMIL2	GNB2	TTN	BRAF	WRAP53	TNNI3	SERPINB7	PRDM16	DDB2	SRP54	KRT86	MAP2K2	BAG5	MARS1	ERCC2	PNPLA1	CLCNKB	TYR	TARS1	ERCC3	TNNT2	PIGA	TCAP	AAGAB	CRYAB	SDHA	SPTLC1	PPOX	SYNE1	SPINK5	AFF4	RAG2	AKT1	AKT2	SASH1	PSAT1	LSS	LRP1	NOTCH2	PEX10	ALDH3A2	FEZF1	ELMO2	AQP5	HLA-B	PKP1	CD28	PPCS	CLDN1	IL17RD	IL17RA	GBA1	PEX11B	MAPRE2	BSCL2	ERCC6	ST14	GJB4	PEX14	EFL1	LORICRIN	LAMA4	COG6	ENPP1	CSRP3	PSENEN	COL1A1	SMARCA2	MVD	PSEN1	SMARCAD1	KANK2	RBM20	UROS	PCSK1	PROKR2	ITGB4	PEX12	GPR101	CDSN	PEPD	FLG2	PEX26	COL6A1	MPDU1	CAV1	KDSR	ERCC5	ASPRV1	TRPV3	WDR11	SDHC	TERC	SLC12A3	PHGDH	CYP4F22	ACTC1	CAP2	KRT83	TMEM43	CTLA4	FGF8	PEX7	HDAC6	FOS	SPTLC2	RSPO1	KRT6C	PEX13	RYR1	DIP2B	IL7R	XRCC4	RNU12	EMD	SLCO2A1	SEMA3A	DCC	SYNE2	ECM1	TAF1A	SLC17A9	TNFRSF1B	DSC3	PI4KA	GLA	HPGD	CLEC7A	POLD1	FDPS	AIP	SUMF1	TAT	LTBP2	PDGFB	IL36RN	SHOC2	CHD7	HSD11B1	PSMB9	TINF2	CAST	GTF2H5	VEGFC	IL2RG	COL12A1	RTEL1	DPAGT1	PLOD1	PLIN1	SOX18	KRT81	ELOVL1	ADAM10	KLHL24	KRT10	PLEC	FKBP14	MYH6	PSMB8	ZNF750	MPLKIP	IDUA	PLN	PPARG	SERPINB8	FITM2	GLB1	PEX16	SMAD4	DMD	HFE	GRHL2	CHKB	MYBPC3	TACR3	AHSG	TUBB	SERPINA12	DOLK	FLRT3	CFTR	TFE3	IL17F	ATP7A	WNT10A	TXNRD2	KRT13	ADAMTSL2	SLC45A2	TGM5	MYH7	NOD2	KRT6B	COL4A5	POMP	PROK2	TTC7A	PEX19	SGPL1	PEX2	USF3	NLRP1	SGCD	SLC29A3	DSG2	KRT6A	LIPE	XPA	SBDS	NEK9	ITGB6	HESX1	DKC1	ANAPC1	HS6ST1	LAMB3	NSMCE2	IL2RB	NIPAL4	LIG4	DCLRE1C	PDGFRB	NEXN	GATA1	CARS1	DNAJC21	CARD14	SNAP29	TYMS	TAFAZZIN	PKDCC	TRAPPC11	LDHA	PSEN2	TMPRSS6	ERCC4	RNF113A	CWC27	KDF1	AGPAT2	VCL	DSC2	KANSL1	FGFR1	PSMB4	ORAI1	LAMA3	NRAS	COL14A1	SMARCD2	KIT	NF1	IGHG2	NECTIN4	CDH3	COPB1	HAND2	SOX10	MAP2K1	NSDHL	RNU4ATAC	LDB3	KLLN	RAF1	IL17RC	LAMC2	ATL1	FUCA1
HP_CIGARETTE_PAPER_SCARS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CIGARETTE_PAPER_SCARS	COL1A1	COL6A3	COL5A1	COL6A2	COL3A1	COL6A1	SLC39A13	COL5A2	COL12A1	CTSC
HP_ATYPICAL_NEVI_IN_NON_SUN_EXPOSED_AREAS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATYPICAL_NEVI_IN_NON_SUN_EXPOSED_AREAS	PRKAR1A	BRAF	PDE11A	CDK4	STK11
HP_ATROPHIC_SCARS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATROPHIC_SCARS	ITGB4	COL1A1	LRP1	CHST14	FKBP14	LAMC2	COL7A1	COL17A1	MMP1	COL5A2	COL3A1	C1R	SMAD3	CARMIL2	B3GALT6	KRT14	LAMA3	COL6A2	ADA2	AEBP1	PLOD1	DSE	KRT5	CTSC	B4GALT7	PLEC	COL1A2	COL12A1	LAMB3	SLC39A13	COL6A3	COL5A1	COL6A1	C1S
HP_BILIARY_TRACT_ABNORMALITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILIARY_TRACT_ABNORMALITY	IGKC	POU2AF1	ESCO2	LETM1	CPLX1	BMP6	GATA6	TTC7A	CYP7B1	DCDC2	ABCC2	IL21R	RFX5	ERCC4	TGFB1	RFXAP	TMEM67	RFXANK	HFE	CTBP1	PSAP	NSD2	INPP5E	IFT140	PKHD1	LMBRD1	DZIP1L	PI4KA	FARSB	KRT18	UGT1A1	ARL6	CFTR	SPIB	LONP1	FGFRL1	FOCAD	STK11	TMEM216	ITCH	ZIC3	KIF12	GBA1	TCTN3	IL36RN	TCF4	GCGR	PTPN3	PEX1	B3GLCT	BCS1L	IRF5	RPGRIP1L	JAG1	NPHP3	FCGR2A	POLG	CCDC28B	GPR35	ABCB4	HSD17B4	LBR	MST1	MICOS13	KIF3B	CEP290	MMEL1	WDR19	TTC26	PEX5	ZFYVE19	ARSA	HSD3B7	CLDN1	USP9X	MKS1	VPS33B	CC2D2A	IL12RB1	IGHG2	WDR35	CIITA	LMNA	RNF43	PHKG2	SEMA4D	CD40LG	REL	RFX6	MED12	TNPO3	AKR1D1	IL12A	BRCA2	SCARB2	BBS1	HNF1B	SUPT16H	SLC37A4	PEX2	TNFSF15	BRCA1
HP_CHOLECYSTITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOLECYSTITIS	IGKC	MECP2	ABCB4	PSAP	ALDOA	CALR	ARSA	F5	TPI1	ATP8B1	ENG	GDF2	PNPLA2	JAK2	TFE3	GPI	NR1H4	SMAD4	HK1	PKLR	IGHG2	ACVRL1	ABCB11
HP_ECTOPIA_LENTIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTOPIA_LENTIS	CPAMD8	CBS	COL2A1	ELP4	TAP1	BAP1	NDP	PAK2	ASPH	B3GALT6	AASS	GNAQ	FBN2	FBN1	LOXL1	CHRDL1	COL18A1	LTBP2	BCOR	SF3B1	C12orf57	ADAMTSL4	TAPBP	COL11A1	PAX6	PORCN	GNA11	P3H2	TAP2	ADAMTS17	WT1	SALL2	PCYT1A	SUOX	MOCS1	MOCS2	CYSLTR2	HSPG2	COL5A1	ADAMTS10	PAX2
HP_PAPILLEDEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAPILLEDEMA	NF2	SMARCE1	FAM111A	TP53	BAP1	IL11RA	IDS	MMP14	NLRP3	SMO	TRAF7	SUFU	PIK3CA	TERT	CTNNB1	UQCRFS1	SMARCB1	AKT1	BRAF	SOST	IFT172	MMP2	PDGFB	APC	GBA1	VHL	CCND1
HP_DEVELOPMENTAL_GLAUCOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVELOPMENTAL_GLAUCOMA	RPS29	RPS20	SBF2	AKT1	FLNA	SH3PXD2B	FOXC1	MAFA	FUT8	NDP	RPL27	RPL35A	FGFR2	ATOH7	CYP1B1	POMGNT1	RNASEH2A	FKRP	PAX6	RPS26	RNASEH2C	RPL26	RPS19	FKTN	RNU7-1	RPS17	IFIH1	CANT1	RPS24	GATA1	NCAPG2	SAMHD1	FZD4	ADAR	POMT2	RPS10	PITX2	OCRL	POMT1	TWIST1	RPS27	TSR2	LTBP2	FOXE3	ADA2	PYCR1	RPL35	PTEN	CHST3	MAB21L1	RPS28	B3GAT3	TEK	ADAMTSL1	LARGE1	GNAQ	GLIS3	TREX1	DAG1	RPL15	LSM11	LMX1B	RPS7	RPL18	RPL11	PXDN	RPL31	RPS15A	RNASEH2B	RPL5	SRY
HP_BRUSHFIELD_SPOTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRUSHFIELD_SPOTS	PEX13	PEX5	PEX6	PEX26	PEX1	PRR12	PEX2	PEX19	PEX14	PEX12	PEX3	PEX10	PEX16	PEX11B	GATA1
HP_IRIS_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRIS_ATROPHY	C1QTNF5	COQ2	ASPH	LRP5	OVOL2	ZEB2
HP_ABNORMALLY_LARGE_GLOBE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALLY_LARGE_GLOBE	SBF2	OCRL	AKT1	POMT1	SH3PXD2B	TWIST1	CHSY1	FUT8	NDP	FBN1	CPSF1	CYP1B1	FGFR2	PTEN	CHST3	PIK3R2	ALKBH8	ATOH7	COL2A1	MAB21L1	ATR	POMGNT1	B3GAT3	LRPAP1	FKRP	ARX	ADAMTSL1	WDR26	KCNJ1	LARGE1	GNAQ	KCNJ6	GLIS3	FKTN	DAG1	PIGV	POMK	CASK	PXDN	NCAPG2	FZD4	POMT2
HP_ABSENT_LACRIMAL_PUNCTUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_LACRIMAL_PUNCTUM	TP63	FGF10	UBR1	FGFR3	FGFR2
HP_OPTIC_NERVE_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPTIC_NERVE_DYSPLASIA	CPAMD8	PEX5	BRAF	B4GAT1	KIDINS220	PAX2	PEX2
HP_IRIDOCYCLITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRIDOCYCLITIS	NOD2	PTPN2	STUB1	PTPN22	IL2RA	STAT4	IL2RB	ANKRD55	AIRE	HLA-DRB1	CD247
HP_KERATOCONJUNCTIVITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KERATOCONJUNCTIVITIS	SCN9A	ERCC3	HLCS	ERCC2	IARS2	RNF113A	SREBF1	GJB2	IL10	CCR1	FGFR3	UROD	MPLKIP	HLA-B	ERCC8	FGF10	IFNGR1	TLR4	AEBP1	ERCC6	C4A	RNF125	KLRC4	AIRE	IL12A	GTF2E2	STAT4	IL23R	TARS1	MEFV	NOD2	MAB21L1	NLRP1	COL17A1	HLA-DRB1	UBAC2	LBR	FGFR2	GATA1	MTTP	CARS1	UROS	GTF2H5	BTNL2	GSN	IL12A-AS1	FAS	ERAP1	GJB6	FBN1
HP_FUNDUS_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FUNDUS_ATROPHY	GUCY2D	C1QTNF5	PCARE	RPE65	RP2
HP_HETEROCHROMIA_IRIDIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HETEROCHROMIA_IRIDIS	PAX3	AKT1	SOX10	SNAI2	MITF	GNAQ	PNPLA6	ACTB	CHN1	PTEN	KIT	MC1R	HRAS	ELP1	LMX1B	KITLG	TYR	EDN3	SALL4	EDNRB	MAFB	ACTG1	OCA2
HP_ANGIOID_STREAKS_OF_THE_FUNDUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANGIOID_STREAKS_OF_THE_FUNDUS	PIK3CA	ABCC6	GGCX	XYLT2	GALNT3	ENPP1	PTEN	XYLT1	TNFRSF11B	AKT1
HP_ABNORMAL_MACULAR_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MACULAR_MORPHOLOGY	HK1	LCA5	IDH3A	AP3D1	ABCC6	YARS1	PRPH2	TREX1	OCA2	IDS	ATOH7	MPDZ	FBN2	CNNM4	PRCD	ABCA4	CDH3	FBLN5	SPG11	MITF	ZNF408	MT-TK	CHST6	TRIM44	DPYD	FOXC1	IMPDH1	MTSS2	FZD4	GDF6	IFT140	OAT	PAX6	XYLT1	PITPNM3	MERTK	CLEC3B	COL18A1	HPS6	TRNT1	ANO10	ADAR	KLHL7	ARHGEF18	EFEMP1	ATF6	RP2	PDE6C	BLOC1S5	OFD1	HPS4	PPT1	RHO	RAX2	RBP4	MFSD8	TRAF3IP1	IMPG2	PLK4	IMPG1	HMX1	OPN1LW	RPGR	XYLT2	GTF2H5	CFH	DPM1	CTNNB1	NDP	TIMP3	CP	CFAP418	CFHR1	BEST1	IFT74	MMACHC	RS1	PCYT1A	PROM1	HLA-A	DHDDS	EDN3	MPLKIP	CYP4V2	GDF3	MAK	NR2E3	PRPS1	SYCE1	ELOVL4	SLC24A5	KIAA1549	NMNAT1	APC	GUCA1B	RD3	GTF2E2	ZFYVE26	NF2	CCND1	TMCO1	CLN3	COG1	OPN1MW	BLOC1S3	CRX	BBS5	CNGB1	KCNV2	WT1	RLBP1	TNFRSF11B	LRP5	UGP2	CNGB3	LIG3	NLRP3	NEU1	EPG5	SLC6A6	ASAH1	CNGA3	ENPP1	PRPF4	SLC45A2	PAX2	ERCC3	CLDN19	IKBKG	DRAM2	MT-TE	PAK2	SIX6	PRPF8	LYST	PDE6G	MYO5A	APOE	GNAT2	SCAPER	MFRP	CACNA1F	ARL3	RPGRIP1	POMGNT1	GUCA1A	MT-TL1	EDNRB	CHM	SAG	CFI	TARS1	CTNNA1	TYR	TLCD3B	TSPAN12	PEX1	C1QTNF5	CLCN2	CEP78	ARL2BP	SLC38A8	C9	CARS1	DCT	ATXN7	VPS13B	AGXT	RP1L1	GUCY2D	SPATA7	HPS5	GBA1	MAPKAPK3	NOD2	VHL	RIMS1	ERCC2	RNF113A	RPE65	GRK1	HMCN1	MC1R	SMPD1	PRPF31	FBLN1	ALDH3A2	NRL	CRB1	MAF	GPR143	SH3BP2	LZTFL1	CFHR3	WDR19	LAMB2	RAB28	PDE6H	LRAT	TTC8	PRR12	DHX38	ZNF513	REEP6	RDH5	CST3	SEMA4A	SOX10	AIPL1	CCNQ	RP9
HP_MACULAR_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_HYPOPLASIA	COL18A1	HPS6	PAX6	HMX1	MAF	NDP	DPYD	EPG5	SLC45A2	FZD4	ATOH7	MPDZ	LAMB2	LYST
HP_RETINAL_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_ATROPHY	RPGR	HK1	LCA5	IDH3A	CTSD	ALMS1	IFT140	YARS1	DRAM2	PRPH2	SIX6	HGSNAT	POMGNT1	TUB	FKRP	CNNM4	ABCA4	APOE	GNAT2	MFRP	ERCC8	ERCC6	IMPDH1	GUCA1A	VCAN	ARSG	POMT2	CFI	ASXL1	MERTK	TRNT1	MIR204	ATF6	TLCD3B	EFEMP1	PDE6C	C1QTNF5	RDH11	CEP78	ARL2BP	OFD1	RHO	RAX2	RBP4	LAMA1	PLK4	SLC7A14	CFH	GUCY2D	SPATA7	CFAP418	GBA1	RLBP1	MAPKAPK3	CFHR1	RIMS1	ELOVL4	RS1	RPE65	IMPG2	PROM1	HMCN1	PRPF31	HLA-A	NRL	CYP4V2	FKTN	SH3BP2	LZTFL1	KIAA1549	NMNAT1	CFHR3	WDR19	ALDH3A2	INPP5E	SNRNP200	PDE6H	TIMP3	LRAT	POMT1	DHX38	CRX	KCNV2	TOPORS	REEP6	PCYT1A	RDH5	TNFRSF11B	STUB1	LARGE1	CNGB3	AIPL1	EPG5	CDHR1	SLC6A6	CA2	CNGA3	RP9	BEST1
HP_OCULAR_ALBINISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCULAR_ALBINISM	HPS6	HSPG2	TYR	AP3D1	GPR143	PDPN	BLOC1S3	BLOC1S5	RERE	HPS4	GABRD	KCNAB2	UBE4B	LYST	SOX10	CASZ1	PRDM16	DTNBP1	LUZP1	HPS1	MMP23B	PRKCZ	SPEN	AP3B1	EPG5	HPS5	SLC45A2	SKI	BLOC1S6
HP_LEBER_OPTIC_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEBER_OPTIC_ATROPHY	MT-ND6	MT-CYB	MT-ND5	MT-ND2	MT-ND4	MT-ND1	PRICKLE3	MT-ND4L	MT-ATP6	MT-CO3
HP_POSTERIOR_POLAR_CATARACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_POLAR_CATARACT	BBS2	CRYAB	ZBTB20	VIM	PITX3	APC	ITM2B	EPHA2
HP_MACULAR_COLOBOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_COLOBOMA	LRAT	MMACHC	CLDN19	SPATA7	NMNAT1	LCA5	CRB1	DHX38	PRPS1	RPE65
HP_SUDDEN_LOSS_OF_VISUAL_ACUITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUDDEN_LOSS_OF_VISUAL_ACUITY	CTNNB1	CDH23	BRAF	MEN1	AIP
HP_JUVENILE_CATARACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JUVENILE_CATARACT	ADNP	CYP27A1	RDH11	ANAPC1	LEMD2	TGM3	NACC1	MECP2	RECQL4	FAR1	SPTBN1
HP_ABNORMALITY_OF_CORNEAL_SIZE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CORNEAL_SIZE	BRD4	BCOR	VPS37D	CTCF	DEAF1	ATOH7	RPGRIP1	FBN1	NAA10	TXNDC15	SLC16A12	COL11A1	B9D2	RAB18	TCTN2	BMP4	TMEM107	SALL4	DPYD	CRPPA	GNPTAB	ERCC6	PLOD1	METTL27	FKRP	PITX3	NSD2	CRYBB1	HDAC8	FGF3	CRYAA	TBL1XR1	RBP4	GTF2IRD1	NHS	ZEB2	GJA1	HMGB3	PLK4	POMK	PIK3R1	CPLX1	HMX1	SMC1A	DAG1	GTF2H5	JAG1	TCTN1	HSPG2	MIR184	ACTG1	TBC1D20	CTDP1	MAB21L2	POMT1	PAX6	FANCB	BCL7B	MLXIPL	MAPRE2	BEST1	NDP	CRYGC	NCF1	CHN1	FKBP14	LETM1	CEP290	RAB3GAP2	IQSEC2	POMT2	MPLKIP	CHRDL1	LMX1B	ERCC8	KIF11	TBX22	GMPPB	FKBP6	TEK	GJA8	TMEM237	FLII	TMEM216	RFC2	FZD4	CRYGD	LARGE1	GTF2E2	POMGNT1	TBL2	FOXL2	GTF2I	COL4A1	TUBB	PIGG	RAI1	B9D1	RECQL4	POMGNT2	CLIP2	CRYBA4	NELFA	MAFB	MAF	STX1A	MT-CYB	RXYLT1	SC5D	UBE3B	CSPP1	DNAJC30	RAD21	ERCC3	KRAS	ARL2	EBP	PITX2	TFAP2A	NIPBL	KDM6A	KMT2D	FGFR2	ADAMTS18	OTX2	PPP2CA	RAB23	TCTN3	B3GALNT2	TARS1	TMEM67	ACTB	CENPF	FGD1	CDH11	SMC3	PYCR1	WNT3	TBX15	CARS1	BUD23	MKS1	BAZ1B	TMEM231	ELN	FKTN	KIFBP	SH3PXD2B	ERCC2	RAB3GAP1	RNF113A	B4GAT1	CHST14	FLI1	EIF4H	B3GLCT	B3GALT6	GTF2IRD2	KCNMA1	LIMK1	TENM3	ANK1	FOXE3	TINF2	TMEM270	PRR12	LTBP2	CRYBB2	PRSS56	MED25	GORAB	CC2D2A	PXDN	CTBP1	RSPO2	RPGRIP1L
HP_VISUAL_FIELD_DEFECT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VISUAL_FIELD_DEFECT	PMS1	ADGRV1	SMARCE1	HK1	LCA5	IDH3A	MT-TS2	YARS1	PRPH2	TUBB2B	ADA2	RLBP1	TREX1	TULP1	MT-CYB	MT-ND6	MT-ND2	CYP1B1	HGSNAT	IDS	CNGA1	CNNM4	ABCA4	RAX2	PEX13	MT-CO3	TIMM8A	MT-TC	IMPDH1	ASB10	IFT140	THPO	VCAN	PITPNM3	MERTK	AGBL5	TP53	TRNT1	ARSG	MT-ND4	MSH2	ARHGEF18	EFEMP1	SH3TC2	MYO7A	ATF6	PEX3	RP2	CLRN1	CACNA2D4	PDE6A	PDE6C	ESPN	FAN1	SLC25A46	OFD1	ARL6	LRAT	SMO	RHO	PEX1	HLA-DRB1	MFSD8	AKT3	AIP	IMPG2	ENG	IMPG1	RBP3	TMEM126A	MT-CO1	MT-ND1	RPGR	KRAS	THSD1	CFAP418	FDXR	CFH	PDGFB	IDH3B	BEST1	ELOVL1	ZNF408	ALMS1	CDH23	PROM1	AIPL1	MT-ND5	PEX5	CFAP410	MLH1	USH1C	USP8	HLA-A	MT-TV	DHDDS	OAT	IBA57	AMACR	BAP1	CYP4V2	JAK2	CTNNB1	MAK	AKT1	FA2H	BRAF	MYOC	ELOVL4	PEX16	PIK3CA	TGFBR3	ANGPTL6	MPL	PEX6	MT-TK	CC2D2A	PRRT2	NF2	MT-ND4L	CRX	CNGB1	KCNV2	MT-TW	TOPORS	MT-ATP6	AARS1	PRPF3	MTTP	USH2A	USH1G	CNGB3	CACNA1A	COL18A1	USP48	RTN4IP1	CDHR1	C1QTNF5	POC1B	SLC6A6	PRORP	CNGA3	PRPF4	BBS2	RNU4ATAC	DLAT	OPA1	PEX19	OPA3	DNM1L	PRPF8	PEX2	ATP1A2	NR2F1	ROM1	PDE6G	TERT	GNAT2	GNAT1	SMARCB1	IFT172	ARL3	HARS1	DNAJC30	RP1	POMGNT1	SETD5	CHM	CWC27	MT-TL1	MFN2	MTRFR	RRM2B	RDH11	CLCN2	NDUFS2	MT-TF	KIZ	RGR	FXN	SPATA7	NR3C1	HKDC1	WFS1	MSH6	SLC7A14	PTPN22	FAM161A	POU3F4	EPCAM	RPS20	MTOR	SOST	MMP19	COL4A1	CIB2	CCDC28B	GUCY2D	MT-TQ	TGFBR2	RPE65	MEN1	WHRN	PCDH15	KIF3B	PMS2	PEX10	ATRX	GPR101	PRPF31	TRAF7	SUFU	MT-CO2	PEX11B	BMPR1A	SEMA4A	SH3BP2	CEP78	PEX14	MSX2	BTD	MLH3	AIRE	RAB28	PDE6H	TIMP3	CACNA1F	GNAQ	EYS	ZNF513	ITM2B	CFI	SDHA	HLA-B	RDH5	PEX12	P4HA2	BBS1	PDZD7	PEX26	CERKL	FLVCR1	RP9	COL3A1	ACO2	SCN1A
HP_CRYPTOPHTHALMOS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRYPTOPHTHALMOS	MAB21L2	FREM1	GRIP1	FREM2	FRAS1	TWIST2
HP_CORNEAL_DYSTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORNEAL_DYSTROPHY	EXOSC2	SLC4A11	TGFBI	CRYGC	OPN1LW	UBIAD1	PRDM5	COL8A2	TKFC	OPN1MW	GLA	CHRDL1	ZEB1	AGK	CHST6	GJA8	AGBL1	CYP4V2	CRYGD	TACSTD2	CRYBB1	TRIM37	OSMR	GNAQ	ZNF469	KRT12	CRYBB2	DCN	PIKFYVE	SLC25A4	COL17A1	CRYBA4	GSN	MAF	CRYAA	MBTPS2
HP_LENS_SUBLUXATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LENS_SUBLUXATION	CHRDL1	COL18A1	CBS	GNA11	ELP4	P3H2	SF3B1	BAP1	CYSLTR2	ASPH	GNAQ	SALL2	LOXL1	PCYT1A	COL2A1
HP_CONSTRICTION_OF_PERIPHERAL_VISUAL_FIELD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONSTRICTION_OF_PERIPHERAL_VISUAL_FIELD	BBS2	RNU4ATAC	DLAT	HK1	LCA5	IDH3A	YARS1	PEX19	TULP1	OPA1	CYP1B1	HGSNAT	CRX	IDS	CNGA1	CLRN1	PRPF8	PEX2	ROM1	PDE6G	RAX2	GNAT1	PEX13	IFT172	ARL3	IMPDH1	CYP4V2	RP1	POMGNT1	IFT140	ARSG	CHM	CWC27	MERTK	AGBL5	ARL6	RRM2B	SH3TC2	PEX3	RP2	CACNA2D4	PDE6A	RDH11	KIZ	OFD1	RGR	LRAT	RHO	PEX1	SPATA7	HKDC1	ABCA4	RBP3	FAM161A	TMEM126A	POU3F4	SOST	CFAP418	RLBP1	IDH3B	CCDC28B	GUCY2D	ELOVL1	ZNF408	ALMS1	RPE65	KIF3B	AIPL1	PEX10	PEX5	PRPF31	PRPH2	DHDDS	OAT	AMACR	EFEMP1	TIMM8A	PEX11B	MYOC	SH3BP2	PEX16	PEX14	PROM1	PEX6	AIRE	CC2D2A	CNGB1	EYS	ZNF513	SDHA	MT-ATP6	RPGR	RDH5	SEMA4A	PEX12	BBS1	PEX26	CERKL	CDHR1	POC1B	SLC6A6	RP9	PRPF4
HP_ANTERIOR_POLAR_CATARACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_POLAR_CATARACT	CRYGB	COL4A3	MIR184	TAOK1	HSF4	HS2ST1
HP_RETINAL_ARTERIOLAR_TORTUOSITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_ARTERIOLAR_TORTUOSITY	TMEM270	DNAJC30	BCL7B	MLXIPL	VPS37D	SEC24C	GP1BB	ARVCF	GTF2I	NCF1	JMJD1C	COL4A1	GTF2IRD1	MT-ATP6	RREB1	EIF4H	LRP5	HIRA	BUD23	CLIP2	TBX1	GTF2IRD2	LIMK1	FKBP6	METTL27	NDP	COMT	UFD1	RFC2	STX1A	BAZ1B	FZD4	ELN	TBL2
HP_ALTERNATING_ESOTROPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALTERNATING_ESOTROPIA	COG8	LMBRD2	SLC38A8	DPP6	CLCN6	APC	PPP2R5D	LMNB1	CDC42BPB
HP_OPTIC_NEUROPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPTIC_NEUROPATHY	MT-CYB	NDUFB10	NDUFS4	NDUFAF2	NDUFS3	ABCG5	MT-ND5	CYP27A1	NDUFS7	NDUFS2	LDLRAP1	GP1BA	CYP1B1	CISD2	NDUFAF8	NDUFAF5	ABCG8	NDUFA13	TSFM	NDUFV1	MT-ND4	EFEMP1	NDUFA11	NDUFA6	MYOC	MT-CO3	MT-ND1	TMEM53	MT-ND6	SH3BP2	NDUFA1	MT-ND3	MT-ND2	TIMMDC1	LDLR	BTD	ATN1	FOXRED1	TMEM126B	NDUFS6	NDUFAF3	MT-ND4L	NDUFV2	CLCN2	NDUFS8	APOB	NDUFB9	NDUFB11	MTRFR	NDUFAF4	MT-ATP6	NOTCH3	NUBPL	NDUFAF1	AGXT	PCSK9	TXN2	NDUFS1	NDUFB3	HLA-DRB1
HP_CHOROIDEREMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOROIDEREMIA	BEST1	IMPG2	IMPG1	POU3F4	CHM	PRPH2	EPHA2	UBE3B
HP_LIMBAL_DERMOID	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMBAL_DERMOID	AKT1	PTEN	DACT1	SALL1	KRAS	FGFR1	SF3B2
HP_SEVERELY_REDUCED_VISUAL_ACUITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERELY_REDUCED_VISUAL_ACUITY	CRB1	CRX	RPE65	GDF6	CEP290	PCYT1A	LRAT	CNGB3	TSPAN12	GUCY2D	IMPDH1	TUBB4B	LRP5	C1QTNF5	ZNF513	CHST6	RPGRIP1	OFD1	STX3	AIPL1	TULP1	SPATA7	KCNJ13	IFT140	NHS	OSTM1	WFS1	CYP4V2	ALG3	HPS1	ZNF408	NMNAT1	NPHP4	USP45	FZD4	PROM1	CTNNB1	CACNA1F	RD3	RDH12	NDP	IQCB1	LCA5	TIMP3
HP_LENTICONUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LENTICONUS	COL4A5	COL4A4	PRPH2	COL4A3	RHO	LAMB2	RLBP1	RDH5	COL4A6
HP_ORBITAL_CYST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORBITAL_CYST	PTCH2	SUFU	BMP4	PAX1	PTCH1	PAX2
HP_RETINAL_EXUDATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_EXUDATE	TINF2	TREX1	LRP5	TSPAN12	CTC1	FZD4	NDP
HP_IMPAIRED_HORIZONTAL_SMOOTH_PURSUIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_HORIZONTAL_SMOOTH_PURSUIT	STXBP1	RFC1	POLR3B	ATXN3	EEF2	ATXN1	ATXN2
HP_SACCADIC_SMOOTH_PURSUIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SACCADIC_SMOOTH_PURSUIT	TMEM106B	ANO10	ATN1	RUBCN	ALS2	PMPCA	CACNA1G	SETX	TPP1	ATP2B3	CACNA1A	KCND3	TMEM240	PRDX3	PRKCG	STUB1	RNF170	ZFYVE26	SPG11	SCYL1	GJB1	PIK3R5	FMR1	XRCC1
HP_SEPTATE_VAGINA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEPTATE_VAGINA	HOXA13	MNX1	UBR1	WT1	INTU	GATA3	TP63	ZEB2	DHCR7	MKKS	BCOR
HP_BRACHYDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRACHYDACTYLY	EOGT	EXTL3	MKKS	KAT6B	IARS2	SEMA3E	CTSK	COL2A1	IFT122	APC2	BHLHA9	CUL4B	SDHD	IFT43	HOXD13	KIAA0753	CPLANE1	DEAF1	LBR	ACAN	CASZ1	NOTCH1	MEGF8	BMP4	PPP3CA	RNU4ATAC	CANT1	FBXO28	PTPN11	SALL4	EHMT1	PIGK	POMP	PRKAR1A	IGF2	FZD2	COL11A2	TCF12	TRPV4	SEC23B	DHCR7	HSPG2	FBXW11	GDF5	GLI3	LONP1	TWIST2	BBIP1	DYNC2H1	FBN1	DBH	LIG4	CHSY1	EXT1	DOCK6	GJA1	KAT6A	TTC21B	MED12	RRAS	SLURP1	FGFR3	STAMBP	SLC26A2	RIT1	HNRNPR	DYM	TMEM67	KCNJ2	ADAMTS10	PTH1R	DYNC2I2	ZDHHC9	TOPORS	HOXA13	JAG1	DVL1	PCYT1A	DYNC2I1	FGF9	PLCB3	RPS6KA3	TRPS1	CHN1	NOG	TWIST1	BMPR1B	PTCH1	GDF1	RIN2	PRDM16	SCUBE3	SH3PXD2B	GNAS	NKX2-5	BPNT2	C12orf57	FLII	KIAA0586	RUNX2	PCNT	LMNA	KDM5C	CSPP1	KIF7	BBS9	ARID1A	BAP1	TRIO	PDPN	PIK3CA	BBS5	MAP3K7	INPP5K	RAI1	ADAMTS17	CHST11	WAC	GJA5	EVC	PDE4D	LTBP3	GATA5	SPEN	MAFB	DPF2	ROR2	PTHLH	FTO	PDE6D	PAX3	GNAS-AS1	GATA6	PRKAR1B	EXOSC2	BMP2	CSGALNACT1	MAF	SDHB	DYNC2LI1	GABRD	KLF13	FGFR2	NRAS	GJB3	CHD7	GNB2	MIR140	GPX4	NBAS	EVC2	PNPLA6	CWC27	MARS1	OFD1	TASP1	PDE3A	ZFPM2	MBTPS1	GRB10	WNT5A	RBPJ	ARHGAP31	ALX3	PITX1	REV3L	CDH11	SLC35C1	RB1	FLT4	LTBP1	CHST3	CCDC32	PAH	B3GLCT	ATRX	FGFR1	PRMT7	FLNB	MGAT2	MMP23B	WDR35	PLXND1	PRKACB	AFF4	CCDC28B	KRAS	COMP	CCDC22	DVL3	ZMIZ1	LSS	LZTR1	NOTCH2	KDM6A	IFT57	PGM3	SIL1	PTEN	HUWE1	SMC1A	IFT140	LZTFL1	RHOA	KDR	NXN	TCTN3	GJA8	DCPS	RLIM	TLK2	SMARCA2	SRCAP	BRAF	GATA4	IFT80	MAGEL2	ATP6V1B2	TGFBR2	PTDSS1	CILK1	POGZ	ALG8	SOS1	RSPRY1	SDHC	ATP7A	PPM1D	TBX1	SPART	WDR19	KCNK4	SHOC2	TRIP11	MYMX	LTBP2	POP1	FGD1	IFT52	ARL6	CBL	RRAS2	DLL4	SKI	DYNLT2B	WNT4	COL11A1	NKX2-6	SIK3	MIR17HG	TONSL	EFNB1	PAPSS2	KDM1A	MRAS	PIK3R1	POC1A	IHH	SNX14	CHRNA7	MYCN	CITED2	PPP1CB	RAB23	IFT172	IFT81	RBBP8	BGN	MACROH2A1	MYMK	SPECC1L	FAM20C	MYSM1	AIFM1	PTCH2	IQSEC2	GDF6	LUZP1	SIN3A	TBX22	FAM111A	SMAD4	MRPS16	SLC35D1	GATA1	ERF	INPPL1	NEPRO	AHSG	GHR	SUFU	DONSON	KCNAB2	PIGN	CEP55	CEP120	ALG6	HHAT	HEATR3	CSNK2A1	NIN	ESCO2	NSUN2	RERE	STX16	TNNT3	SNRPN	ANTXR2	SMG9	USF3	GPC4	ZIC1	TELO2	TFAP2B	PRKCZ	CAMK2G	UPF3B	SOS2	FLNA	ITGB6	GJB4	POR	WASHC5	PUF60	RDH11	HRAS	ALX1	SPRED2	HDAC4	PDGFRB	KIF15	NEK1	RAD21	RASA2	RAF1	SHOX	MAP2K1	LIFR	SMC3	DPH2	RMRP	UBE4B	KDSR	SMARCD2	EPB41L1	CRIPT	TMEM216	MSX2	SCNM1	AKT1	NLRP3	TBX15	SLC2A1	BBS4	PIGS	FAM149B1	BBS1	KLLN	ADNP	PORCN	YY1AP1	NPR2	ARID2
HP_SYNDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNDACTYLY	BCOR	EOGT	BBIP1	MEF2C	CHRNG	MKKS	GABRA3	FANCB	LRP4	LMBR1	PHF21A	IL11RA	CTCF	BHLHA9	HES7	IFT43	HOXD13	CPLANE1	UBE2T	DEAF1	FGFR2	TP63	SHH	GPC4	GNE	ZNF699	EP300	KIAA0753	NOTCH1	MEGF8	BMP4	LEMD3	FAT4	ADAMTS3	WASHC5	FRAS1	CEP19	SETD2	IGF2	FZD2	CTNND1	TMEM231	DHCR7	FBXW11	TCTN3	GLI3	NPHP1	SLC39A8	BBS5	MYH8	LIG4	CHSY1	ZEB2	ANKRD11	DOCK6	MED12	GJA1	KAT6A	TTC21B	RBM10	SMC1A	PIEZO2	PHIP	CD96	SCN1A	FREM2	KCNJ2	PALB2	UBA2	AP2M1	FLNA	CHUK	TWIST2	CREBBP	POLR3A	PLEC	DYNC2I2	TOPORS	BRCA2	DHODH	DYNC2I1	TXNDC15	NOG	PSMD12	NSUN2	FGFR3	AP1G1	RALA	MAP3K20	SMO	NECTIN1	FGF10	BBS7	MKS1	FLII	MAN1B1	RAD51C	FLNB	FGFR1	KIF7	APC2	BBS9	BAP1	TRIO	FANCF	MAD2L2	FANCA	SOX5	RAI1	IRF6	ATP6V1B2	BRIP1	EBP	FIG4	FGF9	TRRAP	DLX5	MESP2	RFWD3	ROR2	WNT10B	SC5D	DLX6	PDE6D	PAX3	BBS2	DYNC2H1	SVBP	RAD21	GNA11	TBX5	MYCN	DLL3	SNORD115-1	CSGALNACT1	CAMTA1	DLL4	CUL4B	EZH2	DYNC2LI1	CHD2	PIK3CA	PWRN1	PTDSS1	RTTN	NBAS	CDC45	KCTD1	IQSEC2	RIPK4	FBXW4	NAA10	MEIS2	ABCC9	PWAR1	PNPLA6	SALL1	OFD1	CNOT2	BRCA1	NSD1	ITGB4	GRB10	RBPJ	ARHGAP31	SCARF2	PITX1	REV3L	CDH11	RB1	GPC3	LTBP1	PIGY	FBLN1	TBX15	MECOM	B3GLCT	CCDC22	MECP2	WDR35	PLXND1	VAC14	POLR3GL	ASXL1	CCDC28B	SF3B4	DVL3	AKT1	IFT122	PSAT1	ZMIZ1	IFT27	FLI1	DCHS1	GDF5	MAGEL2	MTRR	XYLT1	CKAP2L	TTI2	ERCC4	TTC8	ZSWIM6	IFT140	SALL4	MCTP2	TMEM53	RHOA	NXN	LFNG	SCAPER	BBS4	CEP290	SMARCAD1	PUF60	MYH3	TGFBR2	SMAD2	CILK1	IFT80	CCNQ	SYNGAP1	FDFT1	SHANK3	DACT1	FANCC	IKBKG	BRD4	GRIP1	NEK1	BLM	RPL10	WDR19	MKRN3	CTNND2	HMGA2	KCNJ5	KIFBP	CDH3	FGD1	CCBE1	BBS10	BBS12	CDH1	STAG1	SATB1	SLC12A2	HDAC8	MYRF	SIK3	LZTFL1	WNT5A	MIR17HG	SMOC1	EFNB1	SEM1	H4C9	SHMT2	NARS1	FGF16	TMEM94	UBE3A	CACNA1C	BMS1	OTUD6B	DSP	MRPS28	MAB21L2	RAB23	IFT172	MAPRE2	WDPCP	NEXMIF	IFT81	RBBP8	VPS13B	MAPKAPK5	SPECC1L	CFAP418	BTRC	SUZ12	BBS1	CRKL	TWIST1	SBF1	RERE	EN1	TBX22	DYRK1A	SDCCAG8	SMAD4	TXNL4A	ARCN1	FANCD2	DDX6	UBE2A	PORCN	BLTP1	FANCI	YY1AP1	DDX11	HERC2	PRKD1	ALDH1A2	PHGDH	BICRA	MAPK1	CEP55	CEP120	XRCC2	HOXA11	SLC2A1	NPAP1	TBC1D24	ESCO2	JUP	DVL1	SLC12A6	BCR	NIPBL	EPS15L1	TRIM32	WNT7A	TELO2	PLAG1	LMNA	SNORD116-1	TFAP2B	CACNA1G	TRMT5	SETD5	IFT74	NEK9	RBM8A	H3-3A	ARL6	IFT52	CDAN1	PTEN	ORC1	BMP2	SMC3	KCNJ8	HDAC4	SYT1	SETBP1	EED	SOST	CERT1	SLC25A24	KMT2B	IRX5	ARL6IP6	CDKN1C	SEMA5A	PPP1R12A	CLCF1	FANCM	SLX4	FERMT1	TTC26	FANCL	MED13L	PPP2R3C	CRIPT	TMEM216	SCNM1	NECTIN4	NEDD4L	WLS	BMPR1B	SIN3A	RIPPLY2	NSDHL	TBR1	FANCE	FANCG	MED25	FAM149B1	APC	ADNP	HEPHL1	SLC6A1	CDIN1	RAD51	TBCK
HP_HAND_POLYDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAND_POLYDACTYLY	BMPR1B	BBIP1	NEK1	KATNIP	MKKS	BLM	POU1F1	WDR19	BHLHA9	MAP3K20	FGFR2	CPLANE1	DEAF1	RPGRIP1	SHH	GPC4	LBR	TXNDC15	ZNF699	HYLS1	DDX59	B9D2	KIAA0753	MEGF8	TCTN2	FANCD2	DYNC2I1	BBS10	BBS12	CEP19	EXTL3	TMEM107	SALL4	CTBP1	AHI1	INPP5E	IFT140	PTEN	EVC	WDR35	PIBF1	TBX1	DYNLT2B	ARMC9	NSD2	TCTN3	DHCR7	GLI3	NPHP1	LZTFL1	GP1BB	FGFRL1	CBY1	TBX3	BBS5	SMOC1	ZNF141	EFNB1	PHF8	CCND2	TMEM231	RREB1	GDF5	PIK3CA	TMEM237	MBTPS2	TTC21B	IFT80	PDE6D	CPLX1	CSPP1	CD96	RPGRIP1L	TCTN1	CFAP418	LMBR1	FLNA	CEP290	RAB23	DYNC2I2	IFT172	DYNC2H1	TOPORS	HOXA13	WDPCP	OFD1	CHN1	FANCB	KIF7	LETM1	BBS1	IQSEC2	SMO	TMEM67	TMEM218	MKS1	EFTUD2	CC2D2A	FLII	SDCCAG8	TMEM216	TMCO1	PORCN	GLI2	ARL13B	BBS9	LHX3	BBS2	CEP41	ACOX1	CHD7	PIGG	RAI1	PROP1	B9D1	SUFU	EVC2	PIK3R2	TFAP2A	CEP120	NELFA	RBM10	MAFB	HEATR3	SC5D	SH2B1	GLI1	SETBP1	PLAA	DYNC2LI1	TRIM32	LHX4	HIRA	CDC45	WNT7A	KIAA0825	TFAP2B	TOGARAM1	IFT74	PNPLA6	SALL1	C2CD3	TWIST1	CHSY1	ARL6	HOXD13	CIBAR1	WASHC5	AKT3	ZNF423	ARVCF	GPC3	CEP104	PRKACB	COMT	CCDC28B	CCDC22	ARL3	SEC24C	GJA1	HESX1	IFT27	TMEM138	FLI1	BBS7	TTC8	SCNM1	ZIC3	ALX3	FAM149B1	SCAPER	ABCA12	BBS4	JMJD1C	OTUD5	PUF60	EBP	KIAA0586	DACT1	UFD1	PRKACA	TGFBR1
HP_POSTAXIAL_HAND_POLYDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTAXIAL_HAND_POLYDACTYLY	BMPR1B	BBS2	DYNC2H1	CSPP1	BBIP1	NEK1	MKKS	WDR19	SETBP1	BHLHA9	PLAA	KIF7	RPGRIP1	GPC4	LBR	DYNC2LI1	TRIM32	TXNDC15	HYLS1	DDX59	B9D2	MEGF8	TCTN2	WNT7A	RAB23	DYNC2I1	BBS10	BBS12	EVC2	KIAA0825	CEP19	IFT172	TCTN3	TMEM107	GLI3	PIK3R2	INPP5E	IFT140	IFT74	EVC	WDR35	C2CD3	DYNLT2B	OFD1	DHCR7	ARL6	TMEM67	CIBAR1	NPHP1	LZTFL1	AKT3	TBX3	BBS5	TMEM216	SMOC1	ZNF141	CCND2	GPC3	TMEM231	GDF5	MBTPS2	TTC21B	IFT80	PDE6D	MKS1	SMO	CD96	RPGRIP1L	TCTN1	PRKACB	CFAP418	CCDC28B	FLNA	CPLANE1	DYNC2I2	HOXA13	WDPCP	IFT27	CEP290	BBS1	BBS7	TTC8	BBS9	TMEM237	SDCCAG8	SCNM1	CC2D2A	TMCO1	LMBR1	ALX3	GLI2	FGFR2	SCAPER	BBS4	ARMC9	OTUD5	B9D1	CEP120	PORCN	SC5D	TGFBR1
HP_ARACHNODACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARACHNODACTYLY	CBS	SH2B1	BMP1	CIC	COL2A1	FOXE3	PRDM5	ASPH	FBN1	BCR	C1R	OSGEP	MYLK	BNC1	PSMC3IP	IPO8	HIRA	NUP107	ASXL3	MRPS22	SMARCE1	TGFB2	AEBP1	TGFBR1	NR5A1	DSE	UPF3B	SMAD2	TBX1	ACTA2	NSD2	B4GALT7	POR	ATP2B1	GP1BB	ARVCF	MAT2A	SMS	SCARF2	ALG14	SPIDR	MFAP5	ZEB2	TGFBR2	XYLT2	SUFU	FBLN5	RREB1	NALCN	PIEZO2	FSHR	NKAP	HERC1	NARS1	MED12	SKI	CPLX1	UNC80	OTUD6B	FBN2	B3GALT6	SMAD4	ZDHHC9	HNRNPH2	COMT	DPAGT1	FLNA	MTM1	PLOD1	TGFB3	ZSWIM7	PYCR2	NPR3	SLC2A10	SMAD3	H3-3B	SEC24C	CYP26B1	VPS13B	LOX	NPR2	CHRNG	CHST14	PHF8	LETM1	CRKL	PAPPA2	SON	KANSL1	PTCH2	PTCH1	COL11A1	SOX6	ACTG2	DLG4	FGFR3	ABL1	EFEMP2	LAGE3	CTSC	MYH11	HEY2	PQBP1	PRKG1	BMP15	POLR3H	ZNF469	SATB2	CNTN1	FARSA	SIN3A	JMJD1C	PIGG	YRDC	HNRNPH1	STUB1	PEPD	FGFR2	MAPK1	AMER1	NELFA	ELN	CTBP1	UFD1	UBE3B
HP_ABNORMALITY_OF_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FINGER	MGP	GABRA3	ODC1	COL2A1	VPS37D	MECOM	GDF5	TBX1	PHF21A	BMP1	IL11RA	CTCF	HS2ST1	HOXD13	FOXE3	CPLANE1	RPGRIP1	LBR	ZNF699	NUP107	SMARCB1	RNU4ATAC	PTPN11	LMOD3	PRKAR1A	FZD2	CDT1	DPYSL5	MEGF8	SPOP	TRPV4	FBXW11	SHH	GP1BB	ADH5	MAT2A	ADA2	CHD1	KCNN3	TAPT1	CHSY1	ANKRD11	TGFBR2	RPS6KA3	COL6A1	CCDC8	GLI3	STAMBP	HNRNPR	ARID1B	ZNF407	COL6A2	RPGRIP1L	RPS29	TP63	POLR3A	CDC6	NPR3	TOPORS	SP7	SATB2	BRCA2	H3-3B	ERCC5	JAG1	DHODH	DVL1	LRBA	NOTCH1	FGF9	RPL35A	TRPS1	CHN1	PIGN	LRP4	PSMD12	RUSC2	WNK1	RPL26	PRG4	GDF1	TCF20	GNAS	NKX2-5	C12orf57	FKBP6	KIF7	FLII	KATNB1	KMT2A	KDM5C	MKS1	BAP1	ATN1	CHD7	RAI1	WAC	NEK9	GNB1	GJA5	RECQL4	LARS1	PIK3R1	EBP	TRRAP	MAFB	SETD1B	ABCA3	FBN1	GATA6	PCGF2	MYCN	OPA3	CUL4B	EZH2	KDM6A	GABRD	KLF13	PTDSS1	EDA2R	LAS1L	GJB3	SLC25A24	IGF1R	HDAC4	MEIS2	TCTN3	PAFAH1B1	KMT2D	MUC5B	SAMD9	TCF4	UBE3B	HIC1	CFTR	EFTUD2	FGFR3	ACTB	SLC9A6	ZNF423	ATP11A	WNT5A	ALX3	TGDS	GPC3	FLT4	CDKL5	CCDC32	PAH	SPEG	HESX1	EMG1	CTU2	PLXND1	RFWD3	POLR3GL	ASXL1	CCDC22	DVL3	BMPR1B	NCKAP1L	LEMD3	DOK7	LZTR1	WASF1	NOTCH2	PHF6	MOGS	PIEZO2	KCNJ11	TMEM237	FLI1	PIGG	EIF4H	SHANK3	CKAP2L	IGF1	TTC8	IFT140	TCTN2	MCTP2	SOX6	LZTFL1	DYRK1A	KDR	NXN	PIGO	ZIC3	SOX11	UNC80	IGF2	IFITM5	KCNH1	SRCAP	SPART	COMP	MASP1	CEP290	MAGEL2	TRIO	STUB1	PEPD	B3GALT6	SYNE1	PTF1A	BCORL1	PARN	TRAPPC9	PHIP	CNOT3	ESCO2	P4HTM	IKBKG	PRKACB	VPS35L	CBS	SH2B1	NEK1	KATNIP	ACP5	FGFR2	TRIP11	MKRN3	FGFR1	MEGF10	HMGA2	TGFB1	PSMC3IP	MYMK	ZMPSTE24	MEG3	MRPS22	GPKOW	OCRL	CTBP1	AMMECR1	RRAS2	METTL27	INPP5E	CD244	ARMC9	INPPL1	TONSL	SMOC1	ZNF141	H4C3	H19	SLC25A22	MYOD1	BUB1B	SHMT2	TMEM231	RET	NARS1	GNAO1	CPLX1	BHLHA9	ERBB2	PMM2	OTUD6B	BICD2	LMBR1	FLNA	PAICS	SMAD3	TRAIP	NPR2	NCF1	GDNF	MYH3	SUZ12	FBN2	ABCD1	NUP88	PTCH2	PPP1R15B	COL11A1	RERE	PIGV	ARX	SDCCAG8	TMEM216	SMAD4	BRIP1	WDR19	KDM1A	PIGH	KAT6B	TMCO1	HRAS	KRAS	BMP15	BBS2	MUSK	HDAC8	IFT172	OGT	IFIH1	FANCI	SUFU	ERCC6	MLXIPL	SHOX	YRDC	B9D1	BPTF	HERC2	PHGDH	MAPK1	CEP55	CEP120	PQBP1	ALG6	CENPE	ASAH1	SKI	ROR2	GATA4	SCN1B	ATRX	NUP133	PTRH2	CD55	SNRPN	TRIM32	LAMB3	MKKS	GPC4	KPTN	HIRA	RPS19	HOXA11	EIF4A3	SALL4	AEBP1	TOGARAM1	SETD5	AFF2	PPP2R1A	NUP85	BRCA1	RAD51C	TWIST1	CEP152	ARVCF	ALX1	KCNJ8	FANCF	HOXA13	GLI1	NFIX	GJB6	CRLF1	SMO	SOST	CEP104	NEXMIF	KMT2B	DSP	TNNI2	BANF1	COL10A1	MAP2K1	CDKN1C	SH3PXD2B	LIFR	FANCM	NSD1	PAPPA2	NOG	UBE4B	FERMT1	PIGW	IFT43	NRAS	RPS17	EPB41L1	MSX2	DPF2	POR	DPAGT1	COL3A1	USP9X	DDX59	EMC1	TMEM218	B3GAT3	FANCE	EFNB1	FAM149B1	CHST14	BBS1	COL5A1	SC5D	WDR4	CTSK	FANCB	HSPG2	NSD2	ARSL	HES7	DEAF1	IDS	CASZ1	KIAA0753	ADGRG6	IPO8	IDH1	WIPI2	ORC1	DYNC2I1	CANT1	EXTL3	RPS24	COL11A2	RPS27	NPHP1	CBY1	ZC4H2	BBS5	SEMA3D	TBL1XR1	MMP2	SPIDR	ALOX12B	CWF19L1	EXT1	GJA1	RREB1	TTC21B	ALG3	BMP2	RIT1	DYM	ATP7A	FCGR2A	ADAMTS10	MED12L	DYNC2I2	DDR2	DYNC2H1	MTX2	CYP26B1	NARS2	CHRNG	B9D2	AP1G1	YY1	NALCN	AGO2	HYLS1	PRDM16	TGFB2	KNSTRN	MAN1B1	PCNT	PTCH1	BBS9	CEP41	FOXP1	FARSA	PRKG2	FANCA	ATR	EVC	PDE4D	SLC2A10	PRKDC	XRCC4	CC2D2A	PTEN	MESP2	ZNHIT3	EIF2AK4	LMNA	NSDHL	PAX3	COL6A3	SOX9	SLC9A7	KDM4B	CIC	SPTBN1	PTH1R	KMT2E	PWRN1	MORC2	RTTN	EDNRB	GPX4	CDC45	ACAN	MYBPC1	EVC2	ERCC8	PWAR1	ATL3	GMNN	EDN3	ARHGEF2	PNPLA6	OSGEP	OFD1	CNOT2	CSGALNACT1	PDE3A	RAC1	SACS	ARHGAP31	PIGY	MATN3	MECP2	MMP23B	TCTN1	PAX1	MTM1	ELN	ERCC1	SF3B4	FTSJ1	AKT1	CLCF1	POLA1	EP300	TMEM67	IFT57	PHF8	CASK	RSPO2	CHRNA7	FLNB	NAA10	ERCC4	MAP3K7	NFASC	TBC1D2B	MFAP5	RBBP8	LFNG	TLK2	CLCN7	MBD5	SMARCA2	ABCA12	BRF1	ALDH18A1	EDA	AUTS2	SMARCAD1	PUF60	COL1A2	ATP6V1B2	GPR101	CILK1	RPS7	CCNQ	RSPRY1	ANKLE2	ADAT3	TP53RK	BLM	IARS1	CLCN3	SOX5	MYMX	COG5	HIVEP2	HPGD	CCBE1	SCN9A	ATP13A2	BBS10	TTN	CBL	TMEM107	FAT4	SPEN	ECE1	AHI1	KLHL40	SLCO2A1	SLC26A2	IL21	SMG9	NKX2-6	TBX3	SUMF1	TBX5	GATA2	H4C9	NHS	WDR35	MBTPS2	FGF16	EXOC6B	PSMB9	CEP57	UBE3A	RPL15	IHH	RPL11	COL12A1	ECEL1	PLOD1	CDC42	CTDP1	TMEM70	MRPS28	TNNT3	VPS13B	BGN	SPECC1L	NGLY1	LETM1	DHCR7	FBXO11	PSMB8	EXT2	GDAP1	RAB11B	TLL1	ERBB3	LUZP1	NEB	PIK3CD	ATG7	EED	ARPC4	ABL1	COG8	RPS10	PYCR2	EFEMP2	GATA1	PACS2	ARL13B	RNF216	GTF2I	CNTN1	TERT	PROP1	SLC22A4	PCYT1A	SLC25A12	PLAA	PIK3C2A	PRKD1	ZMYM2	NKX3-2	PI4KA	HHAT	XYLT1	CENPJ	CDH11	ALMS1	ZNF292	CDC42BPB	COL5A2	BCR	ERCC2	SNIP1	MYLK	KAT8	BNC1	LIG4	RAB23	TELO2	PLAG1	KIAA0825	NUP37	SFTPA2	IFT74	UPF3B	SREBF1	B4GALT7	IFT52	MAN2C1	CHST3	ALG14	SPRED2	FN1	DNM1L	RFT1	PDGFRB	SLC5A6	HNRNPH2	IRX5	RAB3GAP1	PKDCC	ARID2	TGFB3	DYNC2LI1	PALB2	OBSL1	CYP27A1	LAMC2	DPH2	RYR1	B3GLCT	DNAJC21	COG7	GTF2IRD2	LIMK1	MSL3	PIGL	CRIPT	SIM1	RTL1	SCNM1	DLG4	GRIN1	AP4M1	TMEM270	FANCG	YWHAE	KANSL1	KCNK9	WLS	CHRNA1	L1CAM	CLIC2	SIN3A	TBR1	GNAI1	WDPCP	FKTN	FIBP	RBM8A	PRKACA	NLRP3	PROKR2	SEMA3E	POU1F1	ZBTB20	MYH8	C1R	BMP4	ASXL3	ADAMTS3	LMNB2	SETD2	GNPTAB	SMAD2	STN1	SLC25A46	RPS28	ZEB2	XYLT2	DOCK6	TPM2	FANCC	CSPP1	KCNJ2	DSE	TUBA1A	CFAP418	TWIST2	CREBBP	TRIP13	TOR1AIP1	TGFBR1	FGF10	STAG2	PIGQ	LONP1	RUNX2	DPH5	CTSC	HEY2	ARID1A	GLI2	LHX3	MAD2L2	SLC39A13	EBF3	KIF1A	SUPT16H	RMRP	MAP1B	SFTPA1	PEX6	SIK1	ALOXE3	PTHLH	CRPPA	FTO	SPRED1	IGHMBP2	RAD21	EXOSC2	DLL3	SNORD115-1	PIGB	MAF	DHX30	LAGE3	RIPK4	GRM7	ABCC9	SRP54	SALL1	RNF13	KLHL41	MADD	CIBAR1	GRB10	RBPJ	RB1	ADAMTSL1	KIF22	MAPK8IP3	TRMT10A	VAC14	BAZ1B	RPS15A	CCDC28B	IFT122	ZMIZ1	SEC24C	RPS23	WDR73	SON	NDE1	SMC1A	EFL1	IL10	GJA8	ZNF462	ASPN	SCAPER	PRR12	TUBB3	IFT80	ZFPM2	HNRNPH1	ACSL4	ACVR1	BUB1	BRD4	HYAL1	MGAT2	KCNK4	TERC	PRDM5	QRICH1	RAB18	BCOR	ATAD1	HYOU1	STAG1	DYNLT2B	ACTA2	ORC6	FAM13A	FGFRL1	PEX5	G6PC3	CPT2	PAK3	FBLN5	PIK3CA	MRAS	SMPD4	CHD4	FANCL	PTPN22	WNT7A	RETREG1	EXOSC5	BCL7B	NRTN	TPRKB	PPP1R21	DOCK3	CRKL	RPL10	EN1	TBX22	ALX4	PORCN	POLR3H	DONSON	CCDC88A	ABCC8	COL1A1	SMARCC2	RAB3GAP2	BICRA	RPL18	XRCC2	RPL31	HEATR3	NIN	TBC1D24	NSUN2	TBX2	ANTXR2	BMPR1A	NLRP1	DLX5	TFAP2B	PRKCZ	SETBP1	DNMT3A	SOX4	SBDS	DLK1	H3-3A	WASHC5	AKT3	FGD1	NFKBIL1	BUD23	PGAP2	PYROXD1	RAF1	RELN	NOD2	MEF2C	RPS20	MIA3	UBE2T	TMEM138	HINT1	CCND2	TTC26	PLK4	ACTG2	DHPS	PPP2R3C	TBCK	PEX1	NEUROD2	LAMA3	IDUA	JMJD1C	RIPPLY2	PUM1	RAPSN	ANAPC1	LMX1B	SMS	NONO	YY1AP1	SNRPB	KRT14	CNOT1	UBA2	EOGT	BBIP1	IARS2	RASGRP1	CUL7	FBXO28	CEP19	SMARCE1	ATP2B1	SMARCA4	MED12	KAT6A	NKAP	RRAS	SCN2A	KDM5B	CD96	LAMA5	ORC4	CHUK	BIN1	SLC35A3	ZDHHC9	KMT2C	LOX	TXNDC15	MET	PIGF	DMXL2	DPP9	APC2	RPL5	ADAMTS2	PDPN	INPP5K	CHST11	GATAD2B	CLIP2	FIG4	GATA5	TUBB	SMARCD1	PDE6D	SVBP	PRKAR1B	CCNK	BUB3	TMEM147	TFAP2A	DLX3	NAA20	GNB2	ALG12	CWC27	SFTPC	PACS1	PIGA	SCARF2	PITX1	REV3L	LTBP1	TBX15	FSHR	COMT	KIFBP	IFT27	ATRIP	USP7	SIL1	CCN6	HUWE1	COG4	SLC29A3	RLIM	GGCX	PIGP	PRKG1	BRAF	DPYS	BBS4	KCNE5	POGZ	EHMT1	KIAA0586	TBX4	SOS1	AMER1	DACT1	EIF2S3	MAP3K20	ACTL6B	WNT10B	RTEL1	RPS26	FANCD2	BBS12	DLL4	PIBF1	WFS1	CIITA	SIK3	AIP	MIR17HG	LTBP2	GTF2IRD1	POC1A	TMEM94	MYL11	ACTG1	SLC34A2	CHRND	CITED2	MAPRE2	RPL27	TRIM8	MACROH2A1	AIFM1	IQSEC2	SLX4	UBR1	RFC2	BRAT1	DDX6	TBL2	NEPRO	ZNF469	BLTP1	ACOX1	TRAPPC2	KCNAB2	TFE3	SEMA3C	SIAH1	ALDH1A2	PIK3R2	NELFA	KDM6B	RBM10	ADAMTSL2	STX1A	EXOSC9	KCNA1	DNAJC30	NPAP1	JUP	SLC12A6	ASPH	NIPBL	LHX4	NR2F1	PCDHGC4	ACTA1	H4C5	SNORD116-1	SLC35A2	ALG13	NR5A1	C2CD3	SOS2	ARL6	GJB4	TSR2	RAB33B	TOR1A	SMC3	EIF2AK3	PRIM1	SF3B2	HERC1	KIF15	RASA2	CAPN3	ZSWIM7	ARL3	FRAS1	GORAB	INTU	PSMB4	BBS7	KDSR	PLOD3	PGAP3	SLC18A3	MYH11	COPB1	MTOR	RPL35	OTUD5	COX4I1	STK11	MED25	PIGS	APC	CUL3	ALG9	ADNP	RAD51	UFD1	CTNNB1	PNKP
HP_BROAD_PALM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_PALM	SPECC1L	TONSL	FHL1	DHX30	IFT80	FGD1	TBL1XR1	GPC4	LBR	SLC35C1	AIFM1	DYNC1H1	GNS	FGFR1	OFD1	COL2A1	PIGA	RAI1	B3GLCT	BCOR	IHH	DYM	PPP2R3C	RPS6KA3	PRKAR1A	PTH1R	ASXL1	ADAMTS10	GPC3	FBN1	GATA1
HP_ABNORMAL_THUMB_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_THUMB_MORPHOLOGY	BCOR	FANCB	VPS37D	GDF5	LMBR1	BHLHA9	UBE2T	RPGRIP1	FGFR2	SHH	GPC4	ECE1	FBN1	ACAN	ZNF699	HYLS1	FLNA	B9D2	EP300	MEGF8	ADGRG6	BMP4	CNOT1	WIPI2	DYNC2I1	CANT1	LMNB2	EXTL3	SALL4	RECQL4	RPS24	LMOD3	WDR35	PHGDH	NSD2	DHCR7	RPS27	TCTN3	GLI3	ADH5	ADA2	SLC26A2	SEMA3D	KCNN3	PHF8	TAPT1	LIG4	RPS28	CHSY1	ZEB2	CWF19L1	MED12	COL6A1	TPM2	ALG3	SMC1A	FANCC	HNRNPR	NALCN	LAMA5	TCTN1	ATP7A	PALB2	PTH1R	BMPR1B	MYH3	RPS29	TP63	CREBBP	USP9X	NPR3	DYNC2H1	HOXA13	MLXIPL	SATB2	BRCA2	DVL1	FGF9	RPL35A	COL6A2	CHN1	PSMD12	FGFR3	CEP290	SMO	RPL26	FGF10	KNSTRN	PIGF	GNAS	LONP1	FKBP6	KIF7	RAD51C	PCNT	PTCH1	RPL5	BAP1	FANCF	MAD2L2	CDC42	CHD7	FANCA	RUNX2	COL6A3	CHST11	NEK9	GNB1	ATP6V1B2	CLIP2	BRIP1	FIG4	ZC4H2	PTEN	RFWD3	MAFB	NUP107	ROR2	DHODH	CRPPA	SVBP	SOX9	RAD21	TBX5	PCGF2	LETM1	MYCN	EXOSC2	CPLX1	PIGB	OPA3	TFAP2A	FZD2	EZH2	DHX30	LAGE3	EDNRB	CDC45	RIPK4	MYBPC1	MEIS2	DSE	EDN3	SALL1	OSGEP	FBLN5	ALG12	OFD1	KLHL41	BRCA1	PACS1	TMEM67	EFTUD2	ACTB	SLC9A6	HOXD13	TNNT3	WNT5A	REV3L	RB1	GPC3	PIGY	FANCI	PAH	PTRH2	RPS19	B3GLCT	PLXND1	COG7	VAC14	BAZ1B	RPS15A	BPTF	ELN	ERCC1	ANKRD11	DVL3	FLNB	NOG	XRCC2	WDR73	SON	RSPO2	EIF4H	L1CAM	NDE1	B3GALT6	XYLT1	ERCC4	MAP3K7	NXN	GJA8	ZIC3	RLIM	ZNF462	SRCAP	MSX2	ALDH18A1	SPART	PUF60	STUB1	CILK1	POGZ	SYNE1	RPS7	TRIO	ACVR1	DACT1	ANKLE2	ESCO2	RPGRIP1L	VPS35L	BRD4	TNNI2	MGAT2	FGFR1	NAA10	NSD1	TXNDC15	RPS26	COL2A1	TCTN2	FANCD2	MEG3	GPKOW	TMEM107	ATAD1	CTBP1	GATA1	KLHL40	METTL27	HDAC8	FANCE	FGFRL1	MIR17HG	SUMF1	LTBP2	GTF2IRD1	G6PC3	SHMT2	RET	KDM1A	IFT80	SMPD4	RPL15	FANCL	IHH	ERBB2	OTUD6B	MYL11	RPL11	FBN2	ACTG1	ECEL1	TWIST1	RAB23	BCL7B	NRTN	TPRKB	RPL27	NCF1	COL12A1	GDNF	SUZ12	ABCD1	SLX4	MGP	ERBB3	SIN3A	NEB	PIK3CD	ALX4	TMEM237	TMEM216	EED	RFC2	RPS10	WDR4	TBL2	INPPL1	RRAS2	BLTP1	GTF2I	KCNH1	DYNC2I2	SUFU	PIGG	B9D1	SEMA3C	PRKD1	SIAH1	ZMYM2	NKX3-2	BICRA	RPL18	PQBP1	NELFA	RPL31	STX1A	HEATR3	EXOSC9	CSPP1	DNAJC30	TBC1D24	PTCH2	NSUN2	GATA4	GLI1	SETBP1	NUP133	NIPBL	SNIP1	BMPR1A	HPGD	PCDHGC4	ACTA1	DLX5	EIF4A3	ALG13	SREBF1	RBM8A	DLK1	H3-3A	TSR2	MAN2C1	SF3B4	CHST3	TOR1A	SMC3	DNM1L	RFT1	SF3B2	LRP4	BUD23	NEK1	MKS1	RELN	TMEM231	ADAMTS10	SMOC1	CPLANE1	RPS20	PKDCC	PYCR2	FRAS1	KATNB1	GJA5	GJA1	TP53RK	CHST14	LIFR	FANCM	DPH2	BMP2	INTU	TTC26	GTF2IRD2	LIMK1	MSL3	RPS17	PPP2R3C	EPB41L1	CRIPT	RTL1	AP4M1	CRLF1	TMEM270	FANCG	CLIC2	RPL35	B3GAT3	RNU4ATAC	MED25	APC	CUL3	ALG9	CC2D2A	ADNP	NONO	RAD51	FIBP	KAT6B	PRKG2
HP_LARGE_HANDS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_HANDS	FIBP	AGPAT2	RPS6KA3	EZH2	NSD1	PHF8	NF1	SUZ12	FOS	AIP	MEN1	SHANK3	PPARG	BSCL2	RNU4ATAC	PACS1	INSR	SETD2	ARCN1	EED	PIGL	APC2	KDM5C	POLR3A	SDHB	PEX1	HERC1	GPR101	ASNS	CAVIN1	KIT	CAV1	SDHC	PEX6	POR
HP_PREAXIAL_HAND_POLYDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREAXIAL_HAND_POLYDACTYLY	CPLANE1	CSPP1	DYNC2H1	LETM1	CPLX1	GLI1	GJA1	BHLHA9	TFAP2A	CHN1	KIF7	RPGRIP1	CEP290	TXNDC15	ZNF699	HYLS1	SMO	B9D2	CDC45	TCTN2	FANCD2	DYNC2I1	TCTN3	SALL4	EXTL3	TMEM107	EFTUD2	TMEM237	CTBP1	TMEM216	NSD2	WDR35	SALL1	OFD1	LMBR1	FGFR2	TMEM67	FGFRL1	GLI3	DYNC2I2	PHF8	PIGG	PUF60	B9D1	IFT80	NEK1	CC2D2A	MKS1	HOXD13	NELFA	TCTN1	MAFB	DACT1	HEATR3	TMEM231	RPGRIP1L
HP_ULNAR_CLAW	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ULNAR_CLAW	PRX	SBF2	GDAP1	MPZ	EGR2	HSPB1	NEFL	PMP22	MPV17
HP_HAND_OLIGODACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAND_OLIGODACTYLY	BHLHA9	ESCO2	WNT7A	DLX5	SMOC1	CHD7	RECQL4	PORCN	WNT10B	NIPBL	SF3B4
HP_ADDUCTED_THUMB	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADDUCTED_THUMB	PHGDH	DNAJC30	PCGF2	TNNI2	ELN	VPS37D	NUP133	KCNH1	COL12A1	TNNT3	LAGE3	ECE1	FBN1	MYH3	EDNRB	ADGRG6	ALDH18A1	MEG3	MYBPC1	ACTA1	GPKOW	L1CAM	ALG13	ATAD1	LMOD3	DSE	KLHL40	METTL27	EDN3	SREBF1	OSGEP	FBLN5	KLHL41	RBM8A	DLK1	CREBBP	SYNE1	SLC9A6	TOR1A	SEMA3D	TAPT1	GTF2IRD1	RFT1	ZEB2	PIGY	SHMT2	COL6A1	RET	TPM2	ALG3	BUD23	SMPD4	ERBB2	NALCN	ATP7A	MYL11	FBN2	COG7	ECEL1	RELN	BAZ1B	ERCC1	BCL7B	MLXIPL	NRTN	TPRKB	KATNB1	WDR73	TP53RK	COL6A2	CHST14	NCF1	LIFR	GDNF	ABCD1	DPH2	NEB	EIF4H	NDE1	B3GALT6	ERBB3	GTF2IRD2	LIMK1	MSL3	FKBP6	EPB41L1	RTL1	RFC2	WDR4	AP4M1	TBL2	CRLF1	TMEM270	BLTP1	GTF2I	COL6A3	CHST11	NEK9	GNB1	MED25	STUB1	SEMA3C	CLIP2	SMO	NUP107	ANKLE2	STX1A	EXOSC9	CRPPA	EP300
HP_TAPERED_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TAPERED_FINGER	SVBP	KDM5C	PRKAR1B	PCGF2	CCNK	TP53RK	AMMECR1	IARS2	LMNB2	ODC1	SLC12A6	GATA4	PHF21A	RPL10	ATRX	EIF2S3	CDC42BPB	PIGB	MAF	TNNT3	KIF7	DHX30	KMT2E	CDKL5	HIVEP2	FIG4	SNIP1	NR2F1	LAS1L	GJB3	GNB2	MYMK	TELO2	SCN9A	H4C5	ECE1	DPYSL5	RNF13	TCF4	H3-3A	GJB4	SMARCAD1	AIP	PIGA	SLC39A13	SCARF2	SLC25A46	GATA2	MYOD1	CPT2	PRIM1	RPS6KA3	ADAMTSL1	KDM1A	SPOP	RETREG1	EXOC6B	SMARCA2	CHD4	VPS13B	PHIP	OTUD6B	MAPK1	VAC14	IRX5	ASXL1	DSE	EXOSC5	PAX1	PHF6	CDC42	KIFBP	MAPRE2	H3-3B	ZMIZ1	KMT2C	WASF1	COL12A1	DOCK3	RUSC2	GJA1	WNK1	FBXO11	BRF1	RAB11B	KDSR	SMC1A	HUWE1	PIGV	USP9X	TCF20	DLX5	DYRK1A	SIM1	KATNB1	KMT2A	DPH5	DDX6	UNC80	CRLF1	COPB1	TRIO	INPPL1	PRR12	KIF1A	EBF3	MAGEL2	RUNX2	CCDC88A	GNB1	KCNE5	PUM1	TFE3	ARX	SLC25A12	ZNHIT3	OFD1	CHST14	GNAI1	ACSL4	GPR101	ZMYM2	HDAC8	SUPT16H	EHMT1	PIGN	BCORL1	MAP1B	SPEN	TRAPPC9	SETD1B	HEATR3	CNOT3	CNOT1
HP_HYPEREXTENSIBILITY_OF_THE_FINGER_JOINTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPEREXTENSIBILITY_OF_THE_FINGER_JOINTS	PKDCC	ASAH1	IFITM5	SP7	KCNH1	PRR12	PLAA	COL1A2	GORAB	BRAF	PIGG	PTDSS1	GNB2	FGD1	LMX1B	NFASC	SMS	RPS6KA3	HDAC4	OTUD6B	COL5A1	HRAS	MED12	FBN1	TMCO1
HP_HAND_CLENCHING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAND_CLENCHING	FLNB	GRIK2	WDR73	CDK5	BLTP1	L1CAM	TPM2	DST	NEB	GTPBP2	TOR1A	ATP6V1E1	GLE1	TBR1	MAPT	MYOD1	KCNA1	GNB1	CNTNAP1	BCOR	HNRNPH1	KIDINS220	SLC6A9	SYNE1	MOGS	SCYL2	BICD2	ASXL3	SMG9
HP_ABNORMAL_CARPAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CARPAL_MORPHOLOGY	BMPR1B	PAX3	HOXD13	MYH3	EXTL3	LMBR1	TBX5	SLC10A7	PTH1R	ABCC6	GDF5	TRIP11	B3GALT6	GPC4	EXT2	FGFR3	NANS	MAP3K7	IDH1	LEMD3	CANT1	SALL4	TRPV4	GNPTAB	RECQL4	MAFB	MMP14	ATP7A	EVC2	NOG	RBM8A	SHH	SETD2	MBTPS1	PITX1	MMP2	CHSY1	EIF2AK3	CHST3	FBLN1	LRP4	HOXA13	GLI1	EXOC6B	EBP	KIF22	ESCO2	DYM	IHH	BHLHA9	WNT7A	SLC34A2	ALDH18A1	POR	FLNA	SHOX	NIN	NOTCH2	SMOC1	UFSP2	COMP	FLNB	XRCC2	BGN	MACROH2A1	RMRP	XYLT1	PIGV	LONP1	COL2A1	NXN	GPC3	EXT1	SLC35D1	DDR2	FGFR2	DYNC2LI1	TONSL	MATN3	APC	EVC	RSPRY1	ROR2	ENPP1	PRKACA	PRKACB
HP_ULNAR_DEVIATION_OF_THE_HAND_OR_OF_FINGERS_OF_THE_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ULNAR_DEVIATION_OF_THE_HAND_OR_OF_FINGERS_OF_THE_HAND	COMP	RAB3GAP1	COL9A3	RBM28	TNNT3	HOXD13	TNNI2	MYMK	CHRNG	TPM2	LIFR	B9D2	PIEZO2	BCR	MYH3	LBR	MYMX	CRKL	COL9A2	GDF5	ANKRD11	FLNA	NALCN	EXOC6B	MED12	MAFB	BMPR1B	ADGRG6	WNT7A	PCDHGC4	MAP3K7	MYBPC1	TBX22	PAX3	ALG9	ASXL3	SLC26A2	DPYSL5	RBM8A	HRAS	DHCR7	MUSK	MAN2C1	BMP2	TGDS	ZEB2	SHOX	HOXA13	PTRH2	CILK1	PEX1	RAB3GAP2	SALL1	B3GALT6	COL9A1	MAPK1	CD96	LAMA5	FBN2	DACT1
HP_ABNORMALITIES_OF_PLACENTA_OR_UMBILICAL_CORD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITIES_OF_PLACENTA_OR_UMBILICAL_CORD	GJB2	F13A1	TBC1D24	HSPG2	GATA6	SPTBN1	PLAGL1	FOXF1	KIT	QRICH1	FANCB	LBR	KHDC3L	ZNF699	LMNA	HMGA2	GNB2	ADGRG6	PIGY	MEG3	F13B	RTL1	WASHC5	PLAG1	CFH	PIGV	CDKN1C	ITGB2	FLT1	FGFR3	F7	WNT3	SPECC1L	DLK1	PACS1	POR	NRAS	BCL10	SCARF2	HELLPAR	TAPT1	IL6ST	G6PC3	ZMPSTE24	MDM2	CLPB	PGAP2	CDKN2A	FCGR3B	GJA1	TWIST2	CCDC22	FERMT1	STAG1	CORIN	MYH7	CHEK2	TP53	PIGW	MKS1	STK11	PGAP3	MCTP2	WT1	PAK2	GLB1	IGF1	MYD88	SMARCD2	SERPINE1	PIGO	RBCK1	STOX1	MEI1	C11orf80	DDX6	SKIC3	RAC2	TLK2	NLRP7	LORICRIN	HYMAI	IGF2	FANCF	CD46	MUSK	CFI	KANK2	GLE1	SLC30A9	ATP6V1B2	PHGDH	HOXD13	KCNQ1OT1	KCNQ1	SMARCAD1	TP63	DPF2	POMP	PIGL
HP_SHORT_UMBILICAL_CORD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_UMBILICAL_CORD	ZMPSTE24	ADGRG6	PHGDH	MUSK	LMNA
HP_ABNORMALITY_OF_PRENATAL_DEVELOPMENT_OR_BIRTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_PRENATAL_DEVELOPMENT_OR_BIRTH	CHRM3	F13A1	ARSB	SEMA3E	ODC1	VPS37D	MECOM	YARS1	TMCO1	CHRND	MTMR14	CTCF	HS2ST1	ASCL1	OPA1	EEF1A2	FOXE3	KIT	TGM1	RPGRIP1	GPC4	LBR	ZFP57	OTX2	GJA1	LTBP4	ZNF699	ITGA2	GABRA5	HYLS1	KCNQ5	B9D2	EP300	BTG4	C9orf72	SYCP3	RSPH3	ALDH7A1	PIGY	KCNJ6	RNU4ATAC	RTL1	ADAMTS3	SLC25A20	RMRP	TGFB2	LMOD3	RET	IFIH1	NPC2	DPYSL5	MAGED2	VCP	CLCNKA	TRPV4	NSD2	ACTG2	SLC26A2	SEC24D	RASGRP1	TCTN3	GP1BB	MAT2A	ADA2	DISP1	IL1RN	TPM2	PTPN11	ZIC3	TAPT1	RPS28	NTRK2	ITGA6	DOCK6	COL6A1	SPOP	CFL2	CAMKMT	PADI6	HYMAI	FDXR	HNF1A	UBA1	KCNJ11	FGF20	SLC3A1	PALB2	ZBTB18	FCGR3B	TP63	TUBA1A	COL1A2	DNAH1	TWIST2	RPS29	CREBBP	NRCAM	POLR3A	STAG1	IGF2	LZTR1	BRCA2	CACNA1A	CARS2	HSD17B4	NOTCH1	RPL35A	COL6A2	MYH7	TRIP13	PIGN	PIEZO1	GLE1	WNT4	FGFR3	YWHAG	ABCC6	TGFBR1	CFAP221	ERGIC1	NEK8	MKS1	MYL2	GATA6	LONP1	PTH1R	IGF1	FKBP6	NPHP3	NDUFA1	FLII	SLC12A1	AIMP1	VPS33B	SCN4B	RYR1	CHRNE	DPH5	MEI1	SOX3	RAC2	HEY2	PEX3	MCIDAS	KLHL41	MAD2L2	ATN1	SMARCAL1	GAS2L2	CHD7	EBF3	NDUFV2	RAI1	NEK9	SLC30A9	LTBP3	BRIP1	SPEN	SCYL2	ERBB3	GABRA2	NDN	SLC26A3	EXT2	B3GALT6	CLCNKB	TGFBR2	PPP1CB	CRPPA	DPM2	IGHMBP2	RAD21	SOX10	NR1H4	PCGF2	FLNB	HLCS	LETM1	NDUFS4	MYCN	HSPG2	SNORD115-1	MSX1	PPM1B	PKLR	FOXF1	COL2A1	LAGE3	NR3C2	OFD1	TMEM231	RPL26	SCN3A	HNRNPK	COL3A1	PAFAH1B1	MAFB	LMNA	CRB2	SOX18	RNF13	TCF4	RHCE	PLEC	FARSB	HIC1	KIDINS220	THOC2	CBL	TTC7A	MADD	FCSK	IBA57	SLC25A1	RBPJ	KIAA0586	IL6ST	GPC3	RAPSN	ERCC5	SIX3	MTHFR	WNT3	RAG1	ABCB4	DNAAF1	CLPB	SELENON	WDR35	CDKN2A	PSEN1	HCN1	VAC14	NDUFS1	ASXL1	HBA2	BAZ1B	BIN1	SLC9A3	MEG3	RPS15A	PKHD1	CCDC22	PAX2	SLC35A2	CACNA1D	DOK7	SEC24C	TRAF7	WDR73	ATAD3A	MOGS	STRADA	PRKCD	RPGR	FLI1	PEX16	SON	BSND	EIF4H	PREPL	GLB1	NSF	BICD2	FGF13	GBA1	MCTP2	ATP6V1A	PAK2	SLC13A5	DYRK1A	ITGA7	PDSS2	PIGO	KLF1	SNRPN	CCDC103	MAGEL2	NLRP7	LORICRIN	CCNO	NDUFAF3	FGFR1	NKX2-5	SNTA1	ARV1	TBX5	AFF2	TRIP11	ACE	DYNC2I1	SYT2	GRM7	ASCC1	SLC35D1	FZR1	SYNJ1	FLT4	SYNE1	COL5A1	RAF1	CCDC39	FAS	PNPO	BUB1	FANCC	COX15	RPGRIP1L	CHMP2B	SLC12A3	FXR1	BRD4	GRIP1	DNAJB13	COL1A1	HACD1	CPSF3	SCN8A	ABCC8	QRICH1	GRN	MKRN3	MEGF10	HMGA2	CAV3	SUFU	NECAP1	MYMK	MAP3K7	TCTN2	F13B	GPKOW	CTBP1	AMMECR1	GATA1	RRAS2	METTL27	ATP1A3	ITGB2	FOXE1	CNTNAP1	SYNGAP1	SATB1	TBX1	ACTA2	QRSL1	INPPL1	ITGA2B	GREB1L	AQP2	FGFRL1	NDUFB7	DHDDS	NEB	LMOD1	WDR62	H4C3	H19	MYOD1	G6PC3	CPT2	BUB1B	FBLN5	SHOC2	MRAS	DNA2	IFT80	SMPD4	UROS	FGF12	CPLX1	PEX1	FOXJ1	FOXC2	SLC5A7	NME8	KRAS	LEMD2	GTF2H5	PRKAG2	MAP2K2	DPAGT1	ODAD2	PAICS	PEX6	VANGL1	BCL7B	TPRKB	TSHR	PEX19	NCF1	HNF1B	MYH3	NUP88	CRKL	CORIN	DNAH11	RSPH4A	SLC6A9	NEK10	MME	TRPV6	SLC27A4	HYDIN	PPP3CA	DLK1	SPEF2	PPARG	TMEM216	RAC1	AHCY	FASLG	KAT6B	ERF	PEX13	HRAS	PRRX1	CHUK	CD46	MUSK	SMAD2	SOS1	PAX7	SHH	DNAAF2	MED12	NOS3	GABRB2	KIF7	GPC6	FANCI	F12	BMPER	PIGG	TP53	NDUFS8	SQSTM1	NECTIN1	ATP1A2	TAOK1	NDUFB9	B9D1	PTCH1	HERC2	CRTAP	NEU1	SLC25A26	PHGDH	MAPK1	CEP55	RPL18	FGF8	XRCC2	ASAH1	RPL31	NDUFB3	OCA2	STOX1	ITGB4	GJB2	TBC1D24	ERCC3	KCNA2	NUP133	PLAGL1	NDUFS2	B4GALT1	C1QBP	OSGEP	NDUFAF8	NDUFAF5	DMPK	EPB41	PEX11B	SLC18A3	DTYMK	HIRA	RPS19	RHAG	BRAF	ANO1	PEX12	MRPS22	MT-ND3	PLD1	FLT1	COL11A1	POR	SOX2	WASHC5	DNMT3A	RAG2	ARVCF	PUF60	ALG9	RPL10	ORC1	HELLPAR	KIF14	SMN1	FANCF	AGGF1	GATC	CARS1	BUD23	NEK1	SNAP25	WWOX	ACTA1	PGAP2	CERT1	ITGA8	GMPPB	NEXMIF	COL6A3	CD109	CCDC174	SLC25A24	NUP188	PEX2	MT-ND2	SOX17	KCNB1	CLTC	DNAH9	RPS20	GNPTAB	CDKN1C	MYL9	ITGB3	COX14	RNF113A	NDUFS3	DNAAF11	LIFR	TPM3	UBE2A	FANCM	NSD1	TDGF1	HBB	DUOX2	ALG8	TTC26	PIGW	PIGA	RPS17	DEF6	DHPS	SMARCD2	TBCK	AKAP9	NLRP3	C11orf80	RNF2	MAMLD1	CYFIP2	SCN5A	ATP8B1	JMJD1C	FANCE	TREM2	GLDN	MAP2K1	FANCG	PEX26	CC2D2A	USP18	SLC25A19	UNC45B	SPTB	GFRA1	ODAD1	RSPO2	GUSB	CNOT1	RASA1	EOGT	CYP11B1	CYP11A1	F5	MYLK	NDUFB10	IARS2	FANCB	ABCD4	GATB	UBE2T	DEAF1	DNM1	RIT1	KHDC3L	CACNA2D1	CDK19	ADGRG6	IPO8	FBXO28	EXTL3	F8	STK36	MT-ND1	AVPR2	RPS24	MTM1	CFH	ENPP1	CFAP300	FLVCR2	MAPT	DZIP1L	SHPK	SPECC1L	COQ7	DHCR7	FBXO43	RPS27	PBX1	GLI3	ATP6V0A2	CCDC65	SKIC2	REC114	FBN1	ZMPSTE24	RREB1	KCNJ1	RRAS	CALM3	SMC1A	ACTL6B	TAF1	WARS2	NUBPL	LAMA5	DIS3L2	TCTN1	PRDM13	CYP19A1	KCNQ1	DNAH5	VANGL2	ALG12	KBTBD13	GFPT1	FERMT1	SPAG1	DYNC2H1	MLXIPL	ASXL2	VAMP1	LOX	CHRNG	TXNDC15	DST	NDUFS7	HSPA9	CEP290	EPHB4	TRAPPC12	NDUFA11	PACS1	KCNE2	ARNT2	RAD51C	ASXL3	SERPINE1	GTF2E2	SKIC3	ADAMTS2	FARSA	MDFIC	FANCA	MPZ	MYPN	SETD1A	DNAAF5	LRP5	ATP6V1B2	WDR81	CLIP2	FIG4	ZBTB42	ZC4H2	RFWD3	DPF2	ALB	NUP107	SOX9	MYL1	BUB3	NDUFAF2	EBP	CSGALNACT1	SPTBN1	MYO9A	SLC16A2	IKZF1	MYH11	UROD	GLRB	NAA20	PWRN1	GAS8	NRAS	ADA	NDUFV1	GNB2	REN	PWAR1	PDX1	CALCRL	F7	SPRED2	ZIC2	CYP11B2	NOS1AP	DOHH	BRCA1	ATP6V0A1	TMEM126B	TMEM67	CHAT	DONSON	ARHGAP31	SCARF2	PEX5	CHST3	DYNC2I2	ODAD3	PTRH2	UQCC2	ADARB1	B3GLCT	WNT9B	CDK13	AARS1	MGAT2	NDUFAF1	CPT1A	TRAK1	COMT	DNAI2	ELN	FUZ	PHOX2B	PSAT1	LHX1	FUT8	TTC12	GGPS1	COQ2	DNAI1	FOXH1	LARS2	NAA10	ALX4	ERCC4	STK11	NFASC	MFAP5	MCM10	COL25A1	LAMB2	ANK2	TLK2	PTCD3	GYPC	PLVAP	NDUFS6	PRKG1	NDUFA6	DNM2	CACNA1C	TSEN54	DNAAF6	PLPBP	CELF2	KANK2	SNRPB	NDUFAF4	CILK1	KDM3B	RPS7	KCNQ1OT1	AMER1	BNC2	VARS1	DALRD3	KCNJ5	DCLRE1B	KLHL40	EIF5A	ADAT3	RHD	MAP3K20	IARS1	TGIF1	CLCN3	WNT7A	COG5	DNAAF4	RPS26	CACNA1B	CCBE1	IL7R	TMEM107	FAT4	COL13A1	TRIP4	ODAD4	PIGV	DLL4	SMG9	CLCN7	AP3B2	ABCA12	HDAC8	PI4KA	CNKSR2	AGTPBP1	SCN10A	AGT	EFNB1	PHACTR1	SPINK1	GTF2IRD1	PMM2	MBTPS2	NODAL	COL11A2	UQCRFS1	PTPN23	RPL15	IL2RG	MYL11	RPL11	PROKR2	NDP	SOD1	PIGQ	DSP	PLOD1	ABCB11	ALPL	TMEM70	TRAIP	CTRC	HTR1A	MMACHC	RPL27	VPS13B	SLC38A3	CALM1	SPINT2	IQSEC2	MPLKIP	ALPK3	ABCA3	TBCD	TALDO1	PRPS1	SARS2	WT1	SZT2	CFAP298	TMEM237	NALCN	RSPH1	KIF5C	CD96	MRPS16	RFC2	FANCD2	RPS10	RBCK1	EFEMP2	WDR4	DDX6	TBL2	F2	TRIM37	RSPH9	KIF20A	SPTA1	GALK1	CFI	GTF2I	CNTN1	EMC10	CTSA	MCM4	SLC25A12	RALGAPA1	PARS2	ALDH1A2	NELFA	DLL1	GP1BA	SMARCAD1	AGTR1	KCNH2	STX1A	STAT2	RPL5	EXOSC9	SLC17A5	ZMYND10	CSPP1	DNAJC30	NPAP1	ESCO2	JUP	FKBP14	CDC42BPB	COL12A1	CEP57	LRRC56	COL5A2	BCR	RIPK4	NDUFB11	TSFM	CALM2	IRF6	DNAL1	PLAG1	SNORD116-1	TIMMDC1	PRUNE1	HESX1	SOS2	GLI2	FOXRED1	TARS1	TSR2	CDAN1	TPI1	TMEM106B	BCL10	IL2RB	TOR1A	DNAAF3	PDHA1	LIG4	SMC3	ALG14	DNM1L	PEX10	MDM2	ASH1L	SLC6A5	SERPINH1	CCDC40	SF3B4	USP7	RASA2	GABRG2	SMAD4	OSTM1	TWIST1	FZD4	LGI4	TGFB3	SERPINC1	LDHA	KCNE1	ERCC2	DYNC2LI1	ANXA5	TP53RK	CAMK2B	PEX14	HADHA	MYF6	CHEK2	DCLRE1C	SLX4	AGRN	KANSL1	GRIN2D	SLC25A46	HBA1	GBE1	POLR2A	NPC1	NIPBL	CASP10	ALG1	GTF2IRD2	LIMK1	FANCL	USP9X	PGAP3	MYD88	CDON	TMEM270	YWHAE	CHRNA1	GABBR2	RPL35	SIN3A	TRDN	OTUD5	GAS1	UBA5	COPB2	NUS1	PIGS	SLC1A2	SFTPB	CLTCL1	SHQ1	SFTPC	HOXD13	DRC1	HADHB	RAD51	CA2	UFD1	POMP	INVS	PIGL	SMAD3
HP_TRIPHALANGEAL_THUMB	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRIPHALANGEAL_THUMB	RPS29	TP63	RPS20	LMBR1	TBC1D24	TBX5	BRCA2	FANCB	RPL27	RPL35A	PIGB	CHN1	UBE2T	FANCM	SHH	SLX4	TWIST1	RPS26	RPL26	RPS19	ERCC4	FANCL	DLX5	PIGF	RPS17	SALL4	FGFR2	RPS24	KIF7	RAD51C	MSX2	GATA1	FANCD2	RPS10	SALL1	RPL5	BRCA1	RPS27	TSR2	MAD2L2	ADA2	SF3B4	RPL35	FANCA	KCNN3	FANCI	RPS28	FANCE	FANCF	FANCG	ATP6V1B2	GLI3	BRIP1	RPL15	RPS7	FGFR3	RPL18	RAD51	RFWD3	RPL11	MAFB	XRCC2	PALB2	DACT1	RPL31	FANCC	RPS15A
HP_DISTAL_SYMPHALANGISM_OF_HANDS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_SYMPHALANGISM_OF_HANDS	TFAP2B	NOG	GDF5	IHH	BMPR1B
HP_ABNORMAL_FINGERTIP_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FINGERTIP_MORPHOLOGY	TERT	ZNF292	RASGRP1	HSPG2	CTCF	TERC	PTH1R	CD55	DHX30	RTEL1	LAMB3	SRCAP	BMPR1A	HPGD	NR2F1	EP300	TGFB1	KPTN	NAA10	H4C5	KDM6A	KMT2D	SFTPA2	SLCO2A1	IL21	MUC5B	TCF4	SFTPC	ARID1B	STN1	ZMPSTE24	CFTR	FAM13A	CHD1	ATP11A	TBL1XR1	PAK3	MED12	NFIX	PTEN	GJB6	ZNF407	SLC5A6	SLC34A2	HNRNPH2	FCGR2A	DSP	MED12L	CREBBP	PKDCC	RAB3GAP2	NCKAP1L	H3-3B	RPS23	LRBA	GJA5	EMC1	LAMC2	RUSC2	PSMB8	KANSL1	INTU	BCOR	TLL1	GJA8	DPP9	EZH2	PRR12	ATN1	FOXP1	LAMA3	WAC	STK11	HNRNPH1	DEAF1	JAG1	MAP1B	NLRP3	PARN	SFTPA1	EIF2AK4	ABCA3
HP_DELAYED_OSSIFICATION_OF_CARPAL_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_OSSIFICATION_OF_CARPAL_BONES	HOXA13	TRPV4	MATN3	EXTL3	EXOC6B	PIGV	COL2A1	BGN	LONP1	MBTPS1	IHH	TRIP11	TONSL	RMRP	UFSP2	PTH1R
HP_CLUBBING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLUBBING	ABCA12	ZMYND10	ERCC3	DNAJB13	TERT	RHBDF2	FANCB	RASGRP1	HSPG2	POLA1	TERC	PTH1R	SMARCAD1	UBE2T	CD55	LRRC56	SCNN1G	RTEL1	SFTPB	GAS8	BMPR1A	HPGD	TGFB1	DNAAF4	OFD1	RSPH3	CDC45	DNAL1	STK36	SLCO2A1	ODAD4	SFTPA2	IL21	CFAP300	MUC5B	VPS51	TCF4	BRCA1	SFTPC	ACVRL1	STN1	CFTR	TARS1	SMARCA2	SMAD4	FAM13A	HLA-DRB1	ATP11A	CCDC65	DNAAF3	KRT9	FANCF	DNAAF1	ODAD3	CARS1	PTEN	FOXJ1	GJB6	CCDC40	NME8	KRT1	FLNB	GTF2H5	VPS33A	ABCA3	PRKACB	SLC5A6	SLC34A2	PALB2	FCGR2A	ODAD2	DNAI2	DSP	DNAH1	DNAH5	SFTPA1	DNAH9	NCKAP1L	SPAG1	ERCC2	BRCA2	RNF113A	BTNL2	TTC12	LRBA	DNAAF11	LIFR	UBE2A	FANCM	RPGR	KRT16	SLX4	PSMB8	DNAI1	DNAH11	INTU	MPLKIP	CFAP221	RSPH4A	NEK10	TLL1	ERCC4	FANCL	HYDIN	IL6ST	SCNN1A	SPEF2	CFAP298	SCNN1B	PIGL	RSPH1	RAD51C	DPP9	FANCD2	GTF2E2	CCDC103	MCIDAS	CCNO	RSPH9	MAD2L2	GAS2L2	DNAAF2	FANCA	FANCI	DNAAF6	FANCE	MARS1	DNAAF5	FANCG	STK11	HNRNPH1	JAG1	BRIP1	NLRP3	PARN	DRC1	RAD51	RFWD3	XRCC2	CCDC39	EIF2AK4	ENG	ODAD1	FANCC
HP_AUTOAMPUTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AUTOAMPUTATION	GJB2	KRT1	SPTLC1	VPS33B	TGM1	WNK1	SLURP1	KIF1A	SPTLC2	ATL1	NTRK1	SCN9A	NGF	CCT5	MPV17	RETREG1	TREX1	RAB7A
HP_ABNORMALITY_OF_THE_THENAR_EMINENCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_THENAR_EMINENCE	RPS29	RPS20	TBX5	RAD51C	EMILIN1	FBXW11	RPS27	RPL27	TSR2	RPL35A	ADA2	RPL35	RPS28	FGFR2	FGD4	HOXA13	RPS26	RPL26	RPS19	RPL15	RPS17	SALL4	EIF4A3	RPS7	RPL18	RPS24	RPL11	GATA1	RPL31	RPS10	RPS15A	RPL5
HP_BROAD_METACARPALS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_METACARPALS	DDR2	SLC26A2	GNAS	BGN	MMP2	IHH	EXTL3	GLB1	NPR2	MMP14	DNMT3A	IFT140	GDF5	ADAMTS10	FBN1	FGFR1	PDE4D	TFE3	BMPR1B
HP_ABNORMAL_FINGERNAIL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FINGERNAIL_MORPHOLOGY	PIGN	EOGT	VPS37D	IL11RA	SF3B1	SLC39A4	SHOC2	CENPT	ZBTB20	COL7A1	NSD1	HMGA2	COL11A1	SMARCB1	SCN9A	TERT	FBXO28	KRAS	SLCO2A1	FGFR2	METTL27	DVL3	DLL4	FZD2	EVC	COL17A1	COL11A2	ARID1B	GDF5	CASR	HPGD	CLEC7A	WNT5A	AIP	SMARCA4	NHP2	EFNB1	LIG4	GTF2IRD1	MBTPS2	DOCK6	NOP10	PARN	WDR35	TINF2	KRT1	GTF2H5	MAP2K2	RTEL1	TWIST2	RBPJ	PPP1CB	BCL7B	MLXIPL	NOTCH1	RPS6KA3	MACROH2A1	EDAR	NCF1	SUZ12	TBX3	WNK1	KRT16	TRAF3IP2	MPLKIP	BMPR1B	PIGF	EDARADD	FKBP6	KRT14	WDR19	RFC2	USB1	CTC1	GTF2E2	CTSC	TBL2	HRAS	ARID1A	PKP1	TRPV3	NECTIN1	POFUT1	GTF2I	PSENEN	NPM1	KCNH1	BMPER	PIGO	RUNX2	IL17F	HLA-B	KRT5	ATP6V1B2	PLCD1	SMARCC2	CLIP2	WNT10A	TFAP2A	PEX6	SMARCD1	ROR2	LMNA	STX1A	GNA11	KRT6B	DNAJC30	TBC1D24	CSTB	ERCC3	PERP	NSUN2	DVL1	INPPL1	PLAGL1	EZH2	POGLUT1	WRAP53	PLAG1	ITGB4	KRT6A	BRAF	SOX11	SOX4	EVC2	TARS1	KRT74	DKC1	WASHC5	IFT52	ARHGAP31	KRT9	AIRE	GLI1	ZMPSTE24	KRT17	RETREG1	CARS1	BUD23	TRAF6	EED	KDF1	SHOX	TYMS	BAZ1B	AFF4	ELN	CCDC22	ARID2	CDKN1C	IFT122	ERCC2	RNF113A	GJA1	NOTCH2	STAT3	PITX1	EIF4H	KCTD1	IFT43	IL17RA	GTF2IRD2	LIMK1	DPF2	NXN	SOST	TP63	SMARCE1	ZNF462	TMEM270	PLEC	HYMAI	IGF2	KIF1A	TET2	PEX1	LRP4	DYNC2LI1	KCNN3	MSX1	MAP2K1	PTDSS1	GPR101	SLC35D1	PEPD	LMX1B	IL17RC	PRKACA	TERC	IKBKG	PRKACB
HP_2_3_FINGER_SYNDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_2_3_FINGER_SYNDACTYLY	CDH3	JUP	FANCF	WDPCP	SOST	LRP4	PITX1	GPC4	GPC3	DSP	FGFR2	SMO
HP_HITCHHIKER_THUMB	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HITCHHIKER_THUMB	FLNB	ALG9	CILK1	CHSY1	SLC26A2	MEGF8
HP_SLENDER_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLENDER_FINGER	CBS	SH2B1	BMP1	CDC42BPB	CIC	COL2A1	FOXE3	COL12A1	PRDM5	ASPH	FBN1	BCR	C1R	OSGEP	MYLK	BNC1	GNB2	PSMC3IP	IPO8	HIRA	NUP107	ASXL3	MRPS22	SMARCE1	TGFB2	AEBP1	TGFBR1	NR5A1	DSE	HYOU1	UPF3B	SMAD2	TBX1	ACTA2	NSD2	B4GALT7	PACS1	POR	EFTUD2	ATP2B1	GP1BB	ARVCF	MAT2A	SMS	SCARF2	ALG14	SPIDR	MFAP5	ZEB2	TGFBR2	XYLT2	SUFU	FBLN5	RREB1	NALCN	COL6A1	PIEZO2	FSHR	NKAP	HERC1	NARS1	MED12	NFIX	SKI	CPLX1	UNC80	KIF22	ATRX	MAPK8IP3	OTUD6B	TRMT10A	FBN2	B3GALT6	SMAD4	ZDHHC9	HNRNPH2	COMT	DPAGT1	FLNA	MTM1	LFNG	PLOD1	TGFB3	ZSWIM7	PYCR2	NPR3	SLC2A10	SMAD3	SATB2	H3-3B	SEC24C	CYP26B1	VPS13B	LOX	NPR2	COL6A2	CHRNG	CHST14	PHF8	LETM1	CRKL	PAPPA2	SON	KANSL1	PTCH2	PPP1R15B	PTCH1	COL11A1	USP9X	SOX6	ACTG2	DLG4	FGFR3	ABL1	EFEMP2	LAGE3	CTSC	MYH11	COL3A1	HEY2	PQBP1	PRKG1	BMP15	POLR3H	ZNF469	WDR73	CNTN1	FARSA	SIN3A	JMJD1C	PIGG	COL6A3	YRDC	TRAPPC9	HNRNPH1	BPTF	STUB1	PEPD	FGFR2	BICRA	MAPK1	AMER1	NELFA	ELN	CTBP1	SLC9A6	UFD1	UBE3B
HP_WRIST_FLEXION_CONTRACTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WRIST_FLEXION_CONTRACTURE	RTL1	DDR2	ESCO2	DHX16	TUBB3	PRG4	MYH3	MMP2	ANO5	ERLIN2	MECP2	CADM3	FLNA	TBX15	SCYL2	ERGIC1	MEG3	COL6A3	MAP3K7	COL6A2	COL6A1	PI4KA	COL25A1	CAPN3	MYL11	COL12A1	FBN2	HSPG2	DLK1	ADAMTSL2	B3GALT6	ASXL1	ERCC1
HP_CAPITATE_HAMATE_FUSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAPITATE_HAMATE_FUSION	GLI1	FGFR3	EVC	EVC2	ATP7A	DYNC2LI1	PRKACA	FLNA	FLNB	PRKACB
HP_SMALL_THENAR_EMINENCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_THENAR_EMINENCE	HOXA13	TBX5	RAD51C	EMILIN1	FBXW11	FGFR2	SALL4	FGD4	EIF4A3
HP_LETHARGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LETHARGY	SLC4A1	COX5A	NDUFB10	NDUFS7	ZIC2	ABCD4	POU1F1	STIL	NDUFS6	MMACHC	ATP5MK	NDE1	PLCH1	PDHA1	TSHB	SLC2A1	CPT2	NDUFV1	TGIF1	HJV	RPS26	MCCC2	RYR1	NODAL	ATP13A2	SLC25A20	ACADS	MT-ND1	HFE	PTCH1	RPS24	CPS1	GATA1	CDKN1B	TDGF1	SIX3	TSHR	SLC25A15	MAGEL2	RRM2B	TBK1	MTRR	NDUFS4	TRHR	RPS27	PBX1	ADA2	HMGCL	PAX8	EIF2B3	RPS28	EIF2B5	MEN1	BCKDHB	TLR3	SLC39A4	UCP2	DLL1	MMAA	TWNK	FOXH1	HADH	RPL15	SLC19A2	NUBPL	NAGS	GAS1	HNF1A	POLG	FGF8	ACADVL	RPL11	PCCB	CDKN2B	OTC	HIBCH	GUF1	SHH	SLC5A5	ACADM	RPS29	RARS2	NDUFS2	TPO	CPT1A	ASS1	LMBRD1	RPL27	GCSH	BCKDHA	RPL35A	IYD	ABCC8	RMND1	SCO2	NDUFA11	NDUFA6	TH	EIF2B1	NDUFA1	MCCC1	DDC	YY1	MRPS16	DUOXA2	RPS10	MT-TT	EIF2B4	DLD	ALDOB	SLC25A13	LHX3	DISP1	HLCS	NDUFV2	GABRB2	PCCA	NDUFS8	SIK1	AVP	CDON	NDUFB9	PROP1	GLI2	MMUT	ASL	CA5A	RPL18	DPYD	CDKN2C	RPL31	NDUFB3	MT-CYB	RPL5	FGFR1	NDUFAF2	SLC25A4	BMP6	SLC25A22	KCNJ11	GLDC	NDUFAF8	NDUFAF5	LHX4	ASPA	RPL26	ATP5F1D	TG	STAG2	MT-ND3	TIMMDC1	EIF2B2	FOXRED1	KRT18	TMEM126B	TSR2	GK	BOLA3	MMADHC	RPS19	NFS1	CYP24A1	NDUFAF1	SLC7A7	NDUFS1	MT-ND2	IVD	RPS15A	RPS20	PAX2	ABAT	FBP1	NDUFS3	HESX1	PIGA	SUGCT	HADHA	DUOX2	SLC19A3	SLC25A19	TCN2	MMAB	GCH1	DBT	RPS17	HAMP	HNF4A	SMC1A	NAA10	BTD	NFU1	CDKN1A	HADHB	NDUFAF3	SLC22A5	DPYS	RPL35	TSPOAP1	PRDX1	POLG2	GYS2	NDUFB11	NDUFAF4	USP18	RPS7	SLC1A2	GALT	SLC52A1	BNC2	SIM1	LYRM7	NAXD	AMT	ACADSB	NBAS	MTHFR
HP_INTELLECTUAL_DISABILITY_MILD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTELLECTUAL_DISABILITY_MILD	UBE3A	DEPDC5	HPRT1	MGP	SPART	BLM	MECOM	NLGN4X	SNRPN	CDKL5	COG5	PDSS1	HDAC6	GNE	EP300	DNAJC3	CHRNA4	SPG11	FGD1	FAT4	ZNF408	RTL1	TTN	SETD2	ERCC6	ALG1	MTSS2	KDM6A	NARS2	FZD4	MSTO1	IFT140	PLP1	HPD	PEX10	ANK3	THG1L	TBX1	KCNC3	KMT2B	MAGEL2	ANO10	SLC35A3	TBC1D2B	SRPX2	THOC2	GP1BB	MARS1	TBC1D7	ZC4H2	LTBP2	GLI3	SMARCA2	HMGCL	DCC	PHF8	MECP2	ATP13A2	DNAJC12	ADAR	CAMTA1	RREB1	NTN1	FGFR2	CEP57	ABCA2	PQBP1	NUP62	RPS6KA3	CLCN4	DLAT	TAC3	DCAF17	MT-TN	GRIA3	H19	GRIN1	JAG1	AP3B1	CHRNA7	CTNNB1	NFE2L2	GDI1	ADAMTS10	FLNA	ARX	RCBTB1	PRPS1	JAG2	BIN1	RBPJ	CTDP1	CHRNB2	SFXN4	GMPPB	GABBR2	NR4A2	TKT	PIEZO2	PSMD12	YY1	PSMB8	BRF1	NAGA	CABP4	CA8	ERCC8	SCYL1	KIF11	PTPN11	TCF20	APC	VPS16	DLK1	IGF1	TH	DYRK1A	MAN1B1	ARPC4	RAD51	POMGNT1	APC2	MSMO1	TRIM37	DMD	COG1	DYM	CWF19L1	GPSM2	RAF1	FOXP1	EMC10	ACP5	DONSON	WAC	SMC1A	GPAA1	ERCC4	CPLX1	POU4F1	GLB1	CHRNA2	RUBCN	DCDC2	ZMYM2	GLRA2	PGAP2	PNPLA6	TFAP2A	RNF135	RTN4IP1	PGAP1	POMT1	SYN1	RNU4ATAC	NDN	MLC1	SETD1B	EXT2	GTPBP3	PTEN	HEATR3	ATP2A2	OCA2	FBN1	NDP	SRP54	DARS1	MAN2B1	SRY	STAC3	CRBN	PIK3CA	FIBP	MYCN	EXOSC2	SLC12A6	SH2B1	GATA4	WDFY3	RARS1	NGF	GBA2	FREM1	ERMARD	SLC16A2	CSTB	AASS	SRCAP	KLF13	SLC2A1	BMPR1A	SKIC3	DPYD	TBC1D24	PRMT7	SCN8A	HIRA	ALAD	SLC25A24	BSCL2	GNPTG	SLC29A3	TMEM63C	AGL	HEPACAM	POLR3A	FKRP	ABCC9	HMGA2	L1CAM	SHH	ZMYND11	VRK1	KMT2D	SOX11	POGZ	UPF3B	SPRED2	ZFR	SKIC2	VPS13D	SBDS	MT-TL2	NSD1	TSPAN12	ARVCF	HCN4	DNMT3A	MARS2	SMS	LRP5	KCNT1	ORC1	CDH11	METTL23	KCNJ8	B4GALNT1	PNPLA2	DNAJC21	PYCR1	MTRFR	DAG1	ACTB	SPEG	BRWD3	POU3F4	SARDH	SUFU	MT-TL1	PEX11B	SELENOI	FGF14	MID1	AFG3L2	COMT	DSTYK	MEG3	BPTF	ACOX2	SETBP1	ZNF341	ATL1	TFAP2B	MIA3	ATP6AP1	SLC18A2	IGF2	PCNA	SEC24C	POMK	NF1	KIF1C	SDCCAG8	PCDH19	NTNG1	RAI1	HINT1	NTRK1	KANSL1	BCOR	RYR1	TAF13	NKX2-1	SOX3	ITPR1	LEMD3	POLR3B	CRH	TIMM8A	WDR48	C12orf57	SIN3B	RAB3GAP2	BRAF	INPP5E	ZNF462	CARS1	PITRM1	SPTBN2	MT-ATP6	EZH2	PRRT2	ARID1B	ALX4	TSPOAP1	SIN3A	JMJD1C	MASP1	NSDHL	NONO	KCNQ1OT1	EDC3	POMT2	CDK6	FLCN	DNAL4	SLC25A4	POLA1	MCM3AP	GORAB	ACAT1	CUL3	RAB39B	GALT	AMER1	MTHFD1	NFIX	TRIO	ACVR1	RSPRY1	UFD1	PAFAH1B1	MAP3K7	HSD17B4	FMR1	AKT1
HP_SPASTICITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTICITY	AMPD2	HPRT1	KIF2A	ZIC2	NDUFA9	ODC1	SPG7	CACNA1E	VPS37D	PI4KA	SPATA5	OPA1	EEF1A2	CDKL5	PLCH1	SIGMAR1	NEFH	GRIA2	SLC2A1	SNCA	TGIF1	GABRA5	SERAC1	RNASEH2C	SPG11	MT-ND1	FARS2	KCNJ6	CYP2U1	RNU4ATAC	NODAL	RTN2	ALDH18A1	NDUFS7	NIPA1	PRPH	FAR1	PGAP1	NUS1	IFIH1	NPC2	SPATA5L1	SIX3	ATXN8OS	GSX2	EPM2A	MFSD2A	NKX6-2	PCDH12	NDUFA13	PLA2G6	ITM2B	PEX3	TRAK1	WDR26	MORC2	ATP2B3	COX15	LETM1	KLC2	PPT1	EIF2B5	NTRK2	TAF8	MECP2	ZEB2	DLL1	NDUFA2	STAMBP	UNC80	TAF1	FDXR	NAGA	GUF1	ARX	RNASEH2B	TBCE	POLR3A	VPS4A	CACNA1A	LMNB1	EXOSC9	KIF1A	ERBB4	RPS6KA3	CPT1C	GBA1	PEX5	HLA-DQB1	PIGN	PLP1	RUSC2	MECR	WARS2	YWHAG	FDX2	AP1G1	AARS1	AMACR	GALC	TSEN54	INTS8	GLRX5	PIGQ	MACF1	ATP6AP2	TCF20	APC	CLTC	LINGO1	FKBP6	SOD1	AIMP1	MCCC1	ATAD3A	KATNB1	UBA5	MT-ND6	TUBGCP2	PEX6	DPH5	DNMT1	RNU7-1	KDM5C	EIF2B4	MT-ATP6	FBXO7	DYM	TMTC3	ATN1	DDHD2	FGF8	ENTPD1	CYP7B1	PQBP1	ACP5	TCTN2	ABHD12	EIF2S3	BCAS3	CDON	SMC1A	PRDM13	GLI2	GRIA4	CLP1	GRIN1	PON3	MINPP1	TPRKB	ASNS	MOCS1	ZNF335	PNPLA6	BICD2	DHCR24	ERCC3	PNP	SCYL2	GABRA2	SIK1	COPB2	MAN2B1	ZBTB11	REPS1	EXOSC3	SOX10	FGFR1	NUP214	IKBKG	TANGO2	GPAA1	SEPSECS	SRPX2	EZH2	IREB2	AGTPBP1	VAMP1	STXBP1	ARSA	PFN1	COASY	SCN3A	TSEN15	HID1	TMEM63C	GRM7	DDB2	FUCA1	COG2	ALG11	CTNNB1	RANBP2	INPP5K	RNF13	CLPB	ERCC2	ABCD1	KIDINS220	TSEN2	THOC2	TARDBP	ALS2	MCCC2	GOT2	REEP1	FCSK	IBA57	HTRA1	CACNA1G	SLC19A3	PDHA1	SURF1	APOE	TPK1	SPAST	GJC2	LSM11	NDUFS8	SQSTM1	IDUA	WDR45	ATXN1	GPT2	COL4A1	HEXB	APC2	MAPK8IP3	TRMT10A	HCN1	CCT5	PON1	DSTYK	ERCC8	POLR3GL	BAZ1B	DARS2	CNPY3	CACNA1D	CCNF	YIF1B	PEX10	UBAP1	DCTN1	TIMM50	NADK2	SDHAF1	CASK	FBLN1	SON	FOXH1	ATP6V1A	EIF4H	L1CAM	DNM1L	CKAP2L	SPTBN2	SPTAN1	ARSI	PEX11B	SHH	SLC13A5	ERCC6	RAB3GAP2	AUH	NEFL	PTS	METTL5	SDHD	AP4E1	ARV1	SPART	PARK7	LIAS	MED23	KCNA1	STUB1	WASHC4	VPS13C	PDCD1	PEX12	MED25	FZR1	SYNJ1	SATB1	SLC1A2	DISP1	LYRM7	GRM1	ERCC5	ARNT2	GBE1	NDUFA8	PODXL	ASPA	SLC33A1	NEK1	TYROBP	CPSF3	GDAP2	GLRB	STIL	WDR4	HPDL	SCN8A	FA2H	SACS	CARS2	KIF5A	NSD1	NECAP1	STN1	UNC13A	C19orf12	RAB18	PEX13	CSF1R	FGF13	SLC12A6	METTL27	ATP1A3	MT-ND5	SYNGAP1	ADAM22	KMT2B	MAG	PSAP	AP4B1	NDUFS4	UFM1	UBTF	MARS1	DHDDS	MT-TL1	WDR62	SLC17A5	POLR3B	SLC25A22	SLC18A2	MICOS13	SHMT2	ADAR	TMEM231	OSTM1	LIPT2	MTPAP	BCL11B	GM2A	ERCC4	FGF12	GNAO1	ARG1	GCDH	EML1	CLCN4	DDX3X	GLE1	CNP	SNX14	GTF2H5	GRIA3	OTUD6B	FRRS1L	GRIN2B	MFN2	RETREG1	EXOSC8	VPS37A	CLN5	EXOSC5	TBC1D20	CHMP1A	TELO2	PCYT2	BCL7B	RAB27A	MTFMT	GFAP	PMPCB	ECHS1	KY	NCF1	CLIC2	ZFYVE27	PEX7	SUZ12	PPP1R15B	AP5Z1	BCOR	FOXRED1	TACO1	RERE	ADD3	FUS	PPP3CA	ATXN2	DCX	EIF2B1	GFM1	SNORD118	MED27	HACE1	DLD	OPHN1	POLR1C	WDR73	TTC19	ELOVL4	ALG3	NHLRC1	GABRB2	ATP1A2	ATP7A	TOE1	UGP2	MOCS2	HEPACAM	CIT	ASAH1	CHMP2B	NUP62	TAF2	NDUFS2	SCN1B	PEX19	ATRX	KCNA2	PLAA	RARS1	NOVA2	POMGNT1	LIPT1	OSGEP	KIF1C	RNASEH2A	HSPD1	SPG21	VPS53	ERLIN2	PEX2	CEP85L	DTYMK	AASS	MYO5A	RAB3GAP1	ACER3	ZFYVE26	VCP	GLRA1	HSD17B10	SETBP1	SDHB	CACNA1C	MRPS22	SLC1A4	PNPLA8	MTO1	ELP2	TMEM222	ADAT3	NSRP1	H3-3A	CYB5A	PNPT1	MED17	MT-TP	AP1S2	UBQLN2	B4GALNT1	NUBPL	TDGF1	FRMD5	CARS1	BUD23	CAMK2A	TUBG1	GAN	CTC1	WWOX	SELENOI	MT-TK	NEXMIF	UFC1	KCNB1	DPM1	PARS2	OGDHL	ANK3	GRIK2	RNF113A	SIX6	VPS11	LMBRD2	GCH1	ARL6IP1	TGFB1	GAS1	TTC26	SDHA	MT-TW	PIGA	DYNC1I2	PRNP	TIMM8A	ATP6V0A2	DHPS	TTR	OCLN	PEX16	SAMHD1	MT-ND3	EXOC8	PIGU	PDHX	MFF	JAM3	AIFM1	BEAN1	PRRT2	CYFIP2	NTNG2	NEUROD2	PRDM8	CAPN1	NT5C2	GAD1	PUM1	PTCH1	CLN8	SPR	AP4S1	RNASET2	SUCLA2	ACAT1	C9orf72	AFG3L2	ZSWIM6	KCNA4	DNAJC6	HNRNPA1	ROGDI	TFG	PCLO	NACC1	C2orf69	HTT	SETX	NDE1	MTHFS	TBP	DNM1	UGDH	KCNT1	CACNA2D1	CDK19	TBK1	OPA3	VPS41	B4GAT1	EXTL3	KRAS	PRKN	NARS2	PHGDH	ATL1	SYNE1	DDHD1	SLC25A15	GLB1	ZNF592	SLC12A2	KANK1	TUBB4A	TRAPPC4	HMGCL	NDUFB8	EIF2B3	L2HGDH	PEX1	EIF2AK1	TBC1D23	ISCA2	ATP13A2	GJA1	NALCN	SCN2A	ACTL6B	PANK2	KCNC3	NDUFA12	GFM2	FLRT1	NDUFAF2	MLXIPL	NDUFC2	KPNA3	PMPCA	SLC6A8	ERLIN1	SLC30A10	NSUN2	WASHC5	FIG4	EARS2	SPTLC1	POU3F3	PON2	TRAPPC12	SCYL1	GMPPA	SRD5A3	CHCHD10	DMXL2	KIF11	CYP27A1	UCHL1	XPC	GTF2E2	LAGE3	DEGS1	NDUFA10	COA8	FOXP1	LRPPRC	FRMPD4	GATAD2B	SCO2	GAMT	CLIP2	USP8	POLG	NDUFS3	ZC4H2	TAF15	NEU1	MLC1	MT-TI	VPS50	ATAD1	NDUFA4	PAX3	GBA2	SVBP	SPTBN1	GLYCTK	SLC16A2	CNOT1	SOX4	MCOLN1	PRUNE1	RTTN	CCDC88C	NAA10	EPRS1	WDR45B	SLC6A5	HTRA2	NDUFV1	GSS	EIF2B2	ATP6V0A1	EXOC2	VPS13D	PSEN1	MARS2	COLGALT1	MTRFR	NDUFAF3	TSEN34	ADARB1	MT-TV	CLCN3	FLNA	TUBB3	CYB5R3	REEP2	ELN	PET100	POLA1	TMEM67	NOTCH3	HLA-DRB1	PLCB1	MCEE	ALDH3A2	NTNG1	KCNC2	SIL1	TUBA1A	HUWE1	ERCC1	ARF1	PEX14	BSCL2	MRE11	NFU1	DAO	COX8A	RLIM	PIGP	TMX2	LYST	NDUFA6	ATXN3	LRRK2	CELF2	CNTNAP1	NDUFAF5	PEX26	FTL	EPHA4	ANKLE2	HSD17B4	HIKESHI	NDUFV2	MT-TF	MATR3	FXN	TREM2	TP53RK	IARS1	PAFAH1B1	AFF3	VRK1	RNF170	CACNA1B	FOXG1	PPARGC1A	PPIL1	RAD50	AP3B2	CNKSR2	PSMC1	SLC25A46	ADSL	PHACTR1	GTF2IRD1	ANG	PTPN23	SUMF1	BCS1L	EDNRB	PINK1	ABCC8	PSAT1	UBE4A	TECPR2	ELOVL1	RARS2	LAMB1	COL4A2	SEC31A	TRIM8	CNTNAP2	SLC38A3	GABBR2	SLC25A10	GTPBP2	NDUFAF4	MPLKIP	CFAP410	RAB11B	TBCD	SLC39A14	PRPS1	SZT2	TREX1	KIF5C	VWA3B	MAPT	RFC2	PYCR2	TBL2	GEMIN4	PPFIBP1	MT-ND4	GTF2I	MRM2	ANXA11	AGA	GLT8D1	SLC25A12	RALGAPA1	ISCA1	KCNQ2	TXN2	STX1A	AUTS2	DARS1	ATM	DNAJC30	CTSD	MT-ND2	ADGRG1	EIF2AK2	NDUFS1	ATP6V1E1	DYNC1H1	VAPB	COQ5	NR2F1	DENND5A	KARS1	RNF220	H4C5	STAG2	SLC35A2	TRMT5	LMX1B	DALRD3	XPA	ZFR	AP4M1	TARS1	SOX2	TPI1	IRF2BPL	BOLA3	RFT1	ATXN10	CDC40	EED	GABRG2	SLC5A6	TNR	ATXN7	TUFM	OPTN	SATB2	CAMK2B	NDUFAF6	RPIA	GRIN2D	NPC1	CTNNA2	GTF2IRD2	LIMK1	MSL3	WDR48	MED13L	CHP1	TDP1	BTD	ATP5MC3	CRLF1	TMEM270	SMPD1	MRPS34	COPB1	AARS2	WLS	FUZ	TRIT1	ABHD16A	GPHN	SCN4A	ALG9	SHQ1	GJB1	NAXD	DNAJC19	MTHFR	PNKP
HP_SPASTIC_PARAPLEGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTIC_PARAPLEGIA	PAX3	NDUFV2	NDUFS2	PNPLA6	SLC33A1	SPART	NDUFA9	HSPD1	BSCL2	PI4KA	SETX	HPDL	FA2H	NDUFS1	OPA1	KIF1A	DSTYK	VAMP1	LIPT1	SPG21	RNF170	ZFYVE26	REEP1	VCP	SPG11	FARS2	AP4B1	CYP2U1	IBA57	AP4E1	RNF220	L1CAM	RTN2	MT-ATP6	WDR45B	ALDH18A1	NDUFS7	KLC2	NIPA1	TACO1	UCHL1	NDUFV1	ZFR	MAG	PDHX	SLC25A15	AP4M1	ABCD1	KIDINS220	AP5Z1	MTRFR	NDUFA13	SDHA	MARS1	SLC2A1	SLC19A3	PDHA1	COX15	AP4S1	MECP2	ATP13A2	B4GALNT1	DDHD1	ERLIN2	PLP1	DDHD2	ALS2	NDUFA2	TOE1	SPAST	GJC2	GAN	NDUFS8	SELENOI	GPT2	CCT5	VPS37A	NDUFA12	MTFMT	GBA2	PET100	ATL1	FLRT1	TECPR2	ELOVL1	NDUFAF2	LAMB1	KPNA3	CACNA1D	KY	CPT1C	SLC16A2	UBAP1	NDUFAF6	ZFYVE27	NT5C2	STXBP1	REEP2	WASHC5	C19orf12	FOXRED1	DNM1L	INTS8	ARSI	PEX3	ATRX	KIF5A	WDR48	RNASEH2B	RAB3GAP2	ARL6IP1	ATP5MC3	KDM5C	CAPN1	HACE1	NDUFA10	AIFM1	LYST	ABHD16A	CYP7B1	AMPD2	ECHS1	TFG	SURF1	NDUFS4	USP8	NDUFAF5	SPG7	NDUFS3	ENTPD1	PGAP1	GBA1	GBE1	MAN2B1	NDUFA4
HP_COMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMA	UNC13D	CYC1	SOX10	HLCS	KCNJ11	CFHR3	NAXE	STAT3	PRF1	CPT2	CFH	ATP1A2	GLUD1	CFHR1	ABCC8	ETFA	MCCC2	TLR3	SLC25A20	SLC25A13	PDX1	AUH	CPS1	RANBP2	CDKN1B	MRAP	SLC25A15	TBK1	NDUFS4	APP	GK	HMGCL	NNT	MEN1	BCKDHB	GCK	ATP7B	UCP2	TRAF3	STXBP2	MMAA	STAR	STX11	NAGS	HNF1A	CPT1A	PPOX	SLC7A7	PCCB	CDKN2B	OTC	IVD	ACADM	TICAM1	ALDOB	ASS1	IL18BP	FBP1	HMBS	BCKDHA	INSR	KYNU	ETFDH	SLC19A3	SQOR	CACNA1A	MMAB	CTNNB1	DBT	TXNRD2	BRAF	HNF4A	MCCC1	YY1	CDKN1A	NFKB2	HADHB	INS	PRRT2	POLR3K	SLC22A5	ETFB	MC2R	AKT2	PCCA	HADHA	MMUT	ACAT1	ASL	POLG	CDKN2C	UNC93B1	LYRM7	HADH	HMGCS2	SCN1A
HP_DYSARTHRIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSARTHRIA	PMS1	NDUFA9	SPG7	VPS37D	ADCY5	THAP1	LRP12	NEFH	SLC2A1	PDYN	GBF1	CHRNA1	SPG11	OPA1	NEFL	ALDH18A1	NDUFS7	TMEM240	FMR1	THPO	NPC2	ATXN8OS	SYT14	EPM2A	NKX6-2	NDUFA13	MSH2	PLA2G6	SH3TC2	ATP8A2	ATP2B3	PTPN11	COX15	KLC2	EIF2B5	PDE10A	PUS3	CCDC141	ATP7B	TPP1	NDUFA2	RFXANK	SERPINI1	POLG	PDGFB	HOXB1	COQ2	ARX	TBCE	TOP3A	DUSP6	GLE1	MECR	AMACR	CA8	GLRX5	SRPX2	PGM3	DCTN1	NDUFAF6	SLC1A3	FKBP6	SOD1	C9orf72	UBA5	ITPR1	CHRNE	TTPA	EIF2B4	ANO10	FBXO7	PIK3R5	DDHD2	SMARCAL1	NDNF	EBF3	ENTPD1	CYP7B1	SPRY4	TDP1	ABHD12	WAC	GOSR2	POU4F1	HPCA	PEX2	FAT2	MMUT	MRE11	NOP56	ERCC3	ZBTB11	STAC3	COA7	REPS1	PCGF2	DLAT	SLC25A4	TANGO2	GPAA1	CAMTA1	ELOVL4	VAMP1	ARSA	RFX5	BEAN1	ATP1A2	TOR1A	COASY	TBK1	COX20	CHAMP1	TGM6	GRHL3	KMT2D	RANBP2	ATP1A3	NR4A2	ALS2	REEP1	HTRA1	CACNA1G	SLC19A3	PDHA1	TREX1	OPTN	CISD2	APOE	COLQ	TPK1	SPEG	GJC2	MAPT	TWNK	ATXN10	SUFU	NDUFS8	ATXN1	GPT2	HEXB	FGF14	MT-TE	POLR3GL	SQSTM1	PRNP	BAZ1B	BIN1	DARS2	JAM2	LZTR1	PIEZO2	MAN2B1	FBLN1	CTSF	FEZF1	POLR3A	EIF4H	NKX2-1	ADA2	RAB3GAP2	AUH	GRIN2A	CARS1	PDGFRB	RFC1	PRICKLE1	AP4E1	SPART	UBAP1	ATXN2	TRAPPC11	KCNA1	STUB1	CHCHD10	SATB1	PNKD	GALT	LYRM7	GRM1	WDR11	CIITA	XRCC1	PNKP	WARS2	GDAP2	MATR3	FA2H	GCDH	CP	SACS	FGF8	ATCAY	CACNA1A	PRDX3	KCTD7	C19orf12	CSF1R	XRCC4	SEMA3A	DCC	TTBK2	RRAS2	METTL27	KMT2B	PSAP	AP4B1	WDR62	SLC17A5	POLR3B	SLC18A2	MICOS13	ADAR	PI4KA	WDR81	MTPAP	GLUD2	MRAS	ABCA2	ERCC4	FTL	KRAS	GTF2H5	SCARB2	MAP2K2	EXOSC5	PDE8B	BCL7B	GFAP	SETX	PPP1R21	NOTCH2NLC	NCF1	MLH1	ABCD1	FOXRED1	TACO1	JAK2	TBP	RERE	SAMD9L	ADD3	PFN1	DCX	EIF2B1	SNORD118	HACE1	CLN3	RUBCN	TTC19	CWF19L1	NHLRC1	FLRT3	GLB1	DNAJB6	HEPACAM	GSN	NDUFS2	CACNB4	RARS1	NAXE	SCO2	LIPT1	KIF1C	SPG21	ERLIN2	RILPL1	SCN8A	ZFYVE26	HSD17B10	VPS13D	BRAF	PNPLA8	TARDBP	MAG	GRID2	PNPT1	KCND3	B4GALNT1	NUBPL	NPPA	RRM2B	BUD23	IFRD1	PEX10	EPCAM	GAN	RPS20	CTC1	CLN5	SELENOI	ATG5	RAF1	PLP1	SLC9A1	CHD3	MKS1	CLDN11	GJB1	RNF113A	WFS1	FAR1	GCLC	PMS2	GCH1	JPH3	RAI1	PRPH	HYCC1	DYNC1I2	TIMM8A	TTR	SYT2	PEX16	MLH3	PPP1R15B	ERCC2	SOX10	PRDM8	RNASEH1	TECPR2	CAPN1	FOXP2	PUM1	MAP2K1	SPR	AP4S1	SURF1	ADPRS	AFG3L2	KCNA4	SMS	UBQLN2	CNOT1	FGF17	MYOT	SLC20A2	EEF2	VLDLR	OPA3	TK2	VPS41	WIPI2	NARS2	FBXL3	ATL1	SYNE1	ATN1	ZNF592	TUBB4A	HMGCL	EIF2B3	EIF2AK1	TBC1D23	CACNA2D2	ATP13A2	GJA1	RRAS	RNF216	PANK2	RIT1	KCNC3	DCAF17	XPR1	VCP	NDUFA12	GFM2	FLRT1	GFPT1	NDUFAF2	MLXIPL	PMPCA	VAPB	ERLIN1	LMNB1	SLC30A10	NSUN2	FIG4	XK	FARS2	CYP27A1	MPL	PABPN1	CCNF	GTF2E2	NF2	DEGS1	TMEM106B	NDUFA10	MME	INPP5K	ANOS1	MED13L	CPLX1	MTTP	CLIP2	DAB1	NDUFS3	NDUFA4	GBA2	SNAP25	SNCA	ADH1C	NRAS	TBC1D24	RTTN	CCDC88C	ALAD	EPRS1	ERCC8	UROC1	CLPB	NDUFV1	GSS	EIF2B2	ABCB7	PACS1	MYORG	PSEN1	MARS2	FXN	MSH6	PLEKHG4	ELN	DNAJC6	PET100	NOTCH3	HMBS	SLC16A2	NEB	ATM	APTX	ALDH3A2	SIL1	IL17RD	ERBB3	BMPR1A	SEMA4A	NFASC	WWOX	SPTBN2	EZH2	NDUFA6	ATXN3	ELOVL5	NONO	NDUFS4	PROKR2	WDR73	NDUFAF5	PRPS1	SOS1	PLD3	HSD17B4	NDUFV2	FUS	SLC44A1	PRKCG	RNF170	RFXAP	TTN	CBL	MT-TT	KDM6A	SYNJ1	AR	GBA1	PPP2R2B	DMXL2	HPRT1	THG1L	SDHA	FAN1	GTF2IRD1	PRKRA	GNS	PMM2	NUP62	VPS13A	DRD3	KCTD17	SNCAIP	SPAST	MTFMT	SCN5A	ELOVL1	SEC31A	RNU12	ERCC5	NEK1	GRIA1	UBTF	MPLKIP	ZC4H2	ATG7	VWA3B	RFC2	PIK3CA	TBL2	TRIM37	PRRT2	TUBB3	GTF2I	EMC10	TACR3	HHAT	NUS1	STX1A	DARS1	DNAJC30	PROK2	ADGRG1	CERS1	UBB	EIF2AK2	NDUFS1	CHD7	CSTB	SRCAP	RNF220	PEX6	SOS2	AP4M1	HESX1	TARS1	HS6ST1	IRF2BPL	GIPC1	SPRED2	SLC7A6OS	ACTB	ATXN7	RASA2	PCNA	TNR	MTRFR	TGFBR2	MVK	RPIA	RYR1	NPC1	FGFR1	GTF2IRD2	LIMK1	COA8	ANXA11	GALC	TMEM270	MT-ATP6	AARS2	FUZ	NUTM2B-AS1	SLC35A1	AAAS	POLG2	ECHS1	SLC13A3	RAB39B	HEPHL1	SCN1A	VPS11	ACBD5
HP_EXCESSIVE_DAYTIME_SOMNOLENCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXCESSIVE_DAYTIME_SOMNOLENCE	TICAM1	POU2AF1	SMARCE1	DOK7	GJB1	HMBS	P2RY11	MOG	HTT	HLA-DQB1	MMEL1	TRAF7	NUP88	SUFU	FKRP	DMPK	MYOD1	PIK3CA	BAP1	CTSH	TERT	MTRR	CTNNB1	TLR3	SMARCB1	FKTN	AKT1	FBP1	BRAF	SLC2A3	HLA-DRB1	NAA10	SLC18A3	ZNF365	IL12RB1	POMT2	DNMT1	DHCR7	POMT1	NF2	TBK1	SPIB	CLCNKB	SLC22A5	DPYS	COA8	TBC1D24	TNPO3	SMO	IL12A	RAPSN	ASH1L	TRAF3	TWNK	LARGE1	ACAT1	TNFSF4	IRF5	PTS	PRPS1	HMGCL	TNFSF15	UNC93B1	PDGFB	HCRT	MUSK	TUBA1A	SLC12A3
HP_SPASTIC_DIPLEGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTIC_DIPLEGIA	GALC	PNP	RAB3GAP2	GLRX5	PDHX	AASS	TANGO2	SOX2	TUBB3	AARS1	RAB3GAP1	SPTBN1	SIX6	NDUFA4	NDE1	ACP5	ALDH3A2	SIGMAR1	SLC25A15	SPTLC1	ALS2	BCOR	PSAP	AP1S2	HUWE1	HSD17B10	GCDH	NAA10	SPG11	ADD3	H4C5	TAF1	FUS	NTRK2	FLNA	ELP2	PQBP1	CTNNB1	DARS1	RNU7-1	HSD17B4
HP_HYPOREFLEXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOREFLEXIA	STIM1	IGHMBP2	CHCHD10	NDUFA9	FHL1	SZT2	IARS2	MYOT	POU1F1	HSPB1	EEF1A2	DEAF1	DNM1	KCND3	FBN1	GABRA5	GBF1	CACNA2D1	CDK19	PMP22	MT-ND1	ACTA1	FBXO28	LDB3	EXTL3	GNPTAB	RYR1	NARS2	MORC2	FMR1	FKRP	RRM2B	TRIM8	ATN1	SLC25A4	SPTLC1	DNMT1	LGI3	HMGCL	TPM2	CNBP	SLC25A46	DBH	NTRK2	TBC1D23	TUBA8	DHH	POMK	CFL2	RTEL1	ALDH5A1	ACTL6B	TINF2	DAG1	POMT2	VPS33A	POLG	HSPG2	PRDM13	TWNK	SYT2	VCP	KBTBD13	FLRT1	POMT1	TPO	PMPCA	HK1	REEP1	CACNA1A	EXOSC9	PIGN	IYD	NEFL	YWHAG	FDX2	FGD4	GALC	LMNA	SCYL1	RMND1	PSAP	PGM3	GNAS	C9orf72	FLII	MGME1	ACOX1	WARS1	MT-ND6	DUOXA2	LARGE1	GTF2E2	RETREG1	MT-ATP6	DMD	PRX	LHX3	PEX12	PIK3R5	KLHL41	GRIN2A	HNRNPDL	OTOG	PHYH	MME	COL4A1	INPP5K	RAI1	MPZ	TDP1	MYPN	ABHD12	PEX2	ATP6V1B2	RUBCN	POMGNT2	AIFM1	PNPLA6	LRSAM1	BICD2	DYNC1H1	GJB1	PLP1	VWA1	GABRA2	KARS1	PEX6	MT-TE	CLCNKB	RXYLT1	COA7	MYH14	SOX10	PIGB	NGLY1	MYH7	ADSS1	ELOVL4	DNAJC6	DHX30	AGTPBP1	ARSA	MPV17	LYST	AARS1	TBK1	SCN3A	TSEN15	HDAC4	SMN1	TG	ATL3	PNPT1	ARHGEF2	MFN2	CRYAB	FLI1	FASTKD2	SLC25A1	CHAT	KCNJ18	KIAA0586	TMEM240	SMN2	MT-TV	FLNC	CLCNKA	INF2	HSPB8	TK2	CPT1A	PPOX	TRAK1	HCN1	COG7	SQSTM1	PDK3	DARS2	PARN	FKTN	B4GAT1	NEB	APTX	PIGG	SLC25A19	TPM3	SIL1	DGUOK	MDH2	LRRK1	ATP6V1A	NAGLU	SLC13A5	NFASC	ERCC6	DHTKD1	LAMB2	MRE11	EXOSC1	WWOX	COX8A	RFC1	ARV1	SELENON	HADHA	B4GALNT1	CELF2	CNTNAP1	DUOX2	ELP1	ATXN2	ACD	MCM3AP	COX6A1	FZR1	SYNJ1	SYNE1	PTF1A	SHANK3	AMT	TRMU	HSD17B4	SUCLA2	MED25	FUS	SCN8A	TSHB	QRICH1	VRK1	MEGF10	PRKCG	NECAP1	C19orf12	FBLN5	CACNA1B	EGR2	CRPPA	COL13A1	FGF13	MSTO1	AR	ATP1A3	COASY	MT-ND5	SYNGAP1	TSHR	MAG	AP3B2	STX16	ATP7A	TRPV4	CNKSR2	NEFH	ACO2	NDUFS4	GDAP1	DHDDS	BAG3	GRIA3	PEX5	PODXL	PRDM12	FBXO38	POLR3B	BSND	RAB7A	WDR81	PMM2	AARS2	NARS1	MTPAP	DYSF	FGF12	PEX1	SLC5A7	SPTLC2	VPS13A	SNX14	GTF2H5	DPAGT1	EXOSC8	KY	RNF170	SETX	PPP1R21	GCSH	NOTCH2NLC	CNTNAP2	SLC38A3	VAMP1	DOCK3	LPIN1	DNM2	IQSEC2	MPLKIP	ATXN1	PPP3CA	DES	PDHB	DKC1	GEMIN4	TMCO1	LITAF	POMGNT1	MT-ND4	GABRB2	ATP6AP2	ATP1A2	TAOK1	PROP1	PARS2	VAPB	NDUFA1	KIF1A	KCNA2	MYO9A	TRAPPC11	GBA1	PNKP	TBC1D24	ERCC3	MT-ND2	GLDC	PTRH2	GAA	ST3GAL5	SNRPN	LHX4	SNIP1	ERCC2	LRP4	COLQ	SLC18A3	NDRG1	TRIM32	IBA57	ATP1A1	KLC2	GNB4	TRMT5	TARDBP	DALRD3	ABCA1	EXOSC3	B3GALNT2	TARS1	STAC3	PEX7	TPI1	TERT	CACNA1S	ATXN10	CARS1	GARS1	IFRD1	PEX10	SBF2	GAN	SNAP25	MT-TK	SLC5A5	PYROXD1	GABRG2	DCAF8	KCNB1	CLTC	FIG4	WNK1	RNF113A	EMC1	HESX1	XPA	AGRN	GRIN2D	MT-TW	LMOD3	MT-TL1	TTR	ANXA11	TBCK	MT-ND3	HADHB	SMPD1	BEAN1	GABBR2	CYFIP2	SLC35A1	SCN9A	POLG2	UBA5	NUS1	SLC1A2	ACAT1	SEPTIN9	KIF1B	ZSWIM6	TSPYL1	GABRA3
HP_CHOREOATHETOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOREOATHETOSIS	SLC1A3	NUP62	KCNA1	TSEN2	NDUFA9	SH2B1	SCN1B	ADCY5	FBXL4	CERS1	EIF2AK2	GJC2	PDHA1	SLC16A2	IREB2	ST3GAL5	SETX	SLC2A1	SPTBN4	ERCC2	OPA3	COX20	HSD17B10	GRM7	FBXO28	PRRT2	PIK3R5	TSEN15	PNPT1	ELP2	CLPB	HPRT1	SYT1	SUCLG1	CACNA1B	ATN1	IRF2BPL	ATP1A3	TUBB4A	AP1S2	ATP1A2	SLC25A22	MECP2	MICOS13	ADAR	CDKL5	NDUFAF5	TSEN34	SCN2A	SUOX	PANK2	TOE1	GNAO1	PDE2A	GCDH	PTS	VPS13A	DLAT	SCN8A	DCAF17	XPR1	FRRS1L	TNR	GUF1	ARX	GRIK2	TRIM8	GON7	GTPBP2	ATM	PIGN	MICU1	STXBP1	XPA	HSPD1	NADK2	CASK	CACNA1A	POU3F3	NDUFA13	NKX2-1	TSEN54	GCH1	PIGQ	PNKD	GNAS	SCN1A	ATG7	ERCC6	DMXL2	DDC	GRIN1	MRE11	TMEM106B	CHKA	MT-ATP6	MRPS34	PIGP	NEUROD2	ABHD16A	MED23	SPR	SLC30A9	QDPR	MMUT	NDUFA1	SLC25A42	POLG	FTL	PLP1	SIK1	SEPSECS	TIMM50	PNKP
HP_MENTAL_DETERIORATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MENTAL_DETERIORATION	MT-ND4	SLC20A2	VCP	TREX1	SNCB	TBP	EEF1A2	MT-ATP6	MT-ND6	DNM1	HTT	IDS	SNCA	GABRA5	CACNA2D1	CDK19	PRNP	C9orf72	SPG11	SNORD118	MT-TC	PRKN	FMR1	DGUOK	NPC2	PSEN1	MAPT	ATP6V1A	MECP2	CTNS	COX6B1	TBK1	ATN1	EPM2A	GLB1	NAGLU	DNMT1	PLA2G6	ITM2B	MT-TL1	ASAH1	APP	NDUFB8	PPT1	NTRK2	MBTPS2	ATP13A2	ATP7B	GALC	TLR3	RNF216	ACTL6B	PANK2	LRRK2	SERPINI1	DCAF17	XPR1	MFSD8	PDGFB	SYNJ1	MT-CO1	SCN1A	TREM2	CACNA1A	TMEM106B	CHMP2B	GRN	LMNB1	DAOA	USP8	YWHAG	COL4A1	TOMM40	KCTD7	ERCC8	MT-ND5	PSAP	FA2H	DCTN1	TUBB4A	CST3	CYP27A1	HNRNPA2B1	UCHL1	KMT2A	MT-TK	CCNF	CHI3L1	HLA-DQB1	LRPPRC	MT-TS2	HTR2A	MT-TW	GBA1	SCO2	CDH23	LIG3	USP48	PLP1	GABRA2	MT-TQ	SLC1A3	IDUA	NRAS	GBA2	VPS35	DLAT	GBE1	ADH1C	NOS3	MCOLN1	TTPA	ARSA	SCN3A	TYMP	DRD3	COG2	DNAJC13	ABCA7	HTRA2	CHD2	NR4A2	ABCD1	RRM2B	ERCC4	AP5Z1	MYORG	HTRA1	MAPK10	STUB1	GABRB3	SURF1	CISD2	TMEM240	GIGYF2	APOE	NDUFAF3	SPAST	ATXN10	PTS	WDR45	AARS1	TK2	PLEKHG4	HEXB	TRAK1	EIF4G1	MT-TE	HCN1	PDGFRB	SQSTM1	ATP1A2	DARS2	CLN6	ALDH18A1	AMACR	RBM28	TUBA4A	JAM2	NOTCH3	HMBS	SORL1	ATRX	APTX	SDHAF1	CLN3	CTSF	DNM1L	GCH1	ADA2	SLC13A5	ERCC6	AUH	C19orf12	BSCL2	MT-TF	PMPCA	TWNK	POLG	DNAJC5	POLR3K	PPP2R2B	SDHD	LYST	NDUFA6	ARV1	PRKAR1A	PARK7	UBAP1	PRDX1	ATXN3	CELF2	IRF6	ATXN2	VPS13C	CHCHD10	FZR1	FTL	GALT	TIA1	STARD7	CYC1	PODXL	TYROBP	GDAP2	MATR3	PAH	FUS	MMACHC	SCN8A	GCDH	PNPLA6	CP	MT-CYB	CARS2	SLC44A1	NECAP1	CACNA1B	PRKAR1B	CSF1R	NDP	TIMM8A	FGF13	MT-TT	ATP1A3	COASY	SYNGAP1	AP3B2	TP53	HFE	CNKSR2	TRPM7	MT-CO3	NDUFS2	UBTF	MT-TH	DHDDS	CLN8	SUMF1	PSEN2	KCNC1	KARS1	RTN4R	PRKCG	GLUD2	GM2A	FBXO7	FGF12	VPS13A	PINK1	GRIN2A	SNCAIP	MFN2	CLN5	RAB27A	CREBBP	NOTCH2NLC	SPG21	CNTNAP2	SLC38A3	CUBN	MT-TV	WFS1	SCARB2	PPP3CA	SZT2	ACTB	GALK1	NHLRC1	GABRB2	CUX2	PARS2	QDPR	MPO	HEPACAM	KCNA2	HGSNAT	ATXN8OS	MTHFR	CTSD	CYLD	CERS1	CSTB	ATP6V1E1	SGPL1	ERCC2	AASS	SLC39A14	TIMMDC1	ZFYVE26	L1CAM	SDHB	TARDBP	HSD17B10	DALRD3	CFAP43	BRAF	NR3C1	NBN	SLC7A6OS	HNRNPA1	COMT	ATXN7	CTC1	WWOX	PRICKLE1	GABRG2	KCNB1	APOL4	CLTC	FAR1	PDE10A	MICOS13	APOL2	JPH3	XPA	MT-CO2	GRIN2D	NPC1	SDHA	PDE11A	PLAU	GNAS	SLC2A3	OPA1	ATP6V0A2	HNF4A	MT-ND1	TTR	FRRS1L	HIBCH	TINF2	AARS2	GABBR2	CYFIP2	PRDM8	RNASEH1	UBA5	RNU4ATAC	SLC13A3	NUS1	SLC1A2	RAB39B	DNAJC6	SYN2	UBQLN2	ROGDI	EP300
HP_HEMIPARESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMIPARESIS	EOGT	MT-ND4	SMARCE1	MT-ND5	GBE1	TUBB2B	ADA2	TREX1	CFHR3	MT-CYB	MT-ND6	IL10	SLC2A1	PRNP	CFH	ATP1A2	PIK3CA	CFHR1	TERT	HLA-B	SMARCB1	TLR4	MT-CO1	RHOBTB2	KRAS	MT-TC	GNAQ	C4A	TSC2	PNPLA8	DLL4	SPATA5L1	IL12A	MT-TL1	STAT4	CYP26C1	TBK1	IL23R	TSC1	MT-CO3	MT-TH	BAP1	MEFV	FGFR1	RBPJ	HMGCL	TBC1D24	ARHGAP31	MT-TF	WDR62	SMO	AKT3	DOCK6	TLR3	ENG	SPOP	SP110	MTOR	NOTCH3	TBX1	THSD1	ATP1A3	COL4A1	PDGFB	ERAP1	DCC	MT-TQ	GUCY1A1	NOTCH1	SCN1A	CCR1	TRAF7	PLA2G6	SUFU	MT-TV	MT-CO2	ABCD1	AMACR	TPP2	CACNA1A	DNM1L	IFNGR1	AKT1	OPA1	SLC1A3	HTRA1	MT-ND1	TTR	TGFBR3	ANGPTL6	KLRC4	MT-TK	NF2	PRRT2	HLA-DQB1	SMARCAL1	MT-TS2	MT-TW	UBAC2	IL12A-AS1	HRAS	PRORP	COL3A1	FAS	MTHFR
HP_MOTOR_DELAY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOTOR_DELAY	MT-ND4	FKRP	MN1	CYP27B1	LRP4	YARS1	TRNT1	BMP1	ADCY5	HS6ST2	MTMR14	CUL4B	HS2ST1	CDKL5	POMT1	HECW2	GPC4	GBF1	EP300	PURA	CYP2U1	OPA1	NEFL	SPG11	RTL1	EIF3F	TPM2	GNPTAB	RYR1	LMOD3	CAMK2A	FZD4	PGAP1	DPYSL5	MEGF8	SPOP	CLCNKA	VPS51	NKX6-2	FBXW11	VMA21	AGK	MED13	WDR26	MORC2	IL1RN	ATP2B3	SMARCA2	KLC2	PDE10A	TAF8	MECP2	ZEB2	WAC	B4GALT7	IARS2	UNC80	TAF1	FDXR	SYNGAP1	VPS33A	ZNF407	LARS2	DSE	COL6A2	ADGRG1	SCN1A	HK1	PRPS1	PTH1R	MUSK	NRCAM	SPARC	IGF2	GEMIN5	SP7	VPS4A	LMNB1	EXOSC9	NIPA1	GABRA5	PSMD12	GLE1	RUSC2	MECR	FDX2	UPB1	TSEN54	STAG2	SPEG	MACF1	PPP2R5D	MKS1	TCF20	MYL2	LONP1	LINGO1	SLC1A3	IGF1	UBE3A	NCAPG2	KATNB1	NMNAT1	TRIM2	KMT2A	CHRNE	KDM5C	CHKA	DMD	PRX	COL12A1	BAP1	TRIO	DYM	KLHL41	BRPF1	CHD8	TMTC3	SLC37A4	CHD7	EBF3	SOX5	ATP6V1A	BCAS3	SMC1A	PET117	PRDM13	GRIA4	GRIN1	LARS1	SUPT16H	CDH2	CTBP1	BICD2	TUBB2B	SPEN	DYNC1H1	TRRAP	TMEM107	CLCNKB	MAN2B1	ZBTB11	STAC3	REPS1	SPRED1	DLAT	LAMA2	MT-ND5	EXOSC2	USH1C	SNORD115-1	DLG3	DHX30	AGTPBP1	STXBP1	ZBTB24	ADA	TOR1A	GALNT2	TSEN15	IGF1R	HID1	TMEM63C	CHAMP1	LMNA	CTNNB1	INPP5K	IL37	SYT1	CLPB	SAMD9	SELENON	TCF4	COX10	COG5	FARSB	UBE3B	KIDINS220	ITGA7	MADD	FASTKD2	SLC25A1	PTPRQ	SEMA6B	GRB10	LRP5	MEG3	CDH11	GMPPB	TTC5	SGMS2	GJC2	ANTXR1	NAA15	PRMT7	MTMR2	PREPL	PLXND1	VPS13B	APC2	MAPK8IP3	TNFRSF11A	POLR3GL	BIN1	DARS2	SETBP1	ATP2A1	TK2	MRPS25	GTF2E2	ZMIZ1	NDST1	RPS23	WASF1	YIF1B	MICU1	PIEZO2	TIMM50	SDHAF1	PIGC	FBLN1	PIGG	CRAT	BSND	PGAP3	RBL2	KIF14	NKX2-1	CHRND	ROBO3	FLNA	AUH	DYRK1A	PTS	MT-TF	ALS2	LRRC32	CARS1	LAMA1	POLR3K	PHKG2	SRCAP	SDHD	PRR12	IFT74	SPART	AMPD2	HADHA	MAGEL2	LIAS	POMGNT2	SYT2	WASHC4	MCM3AP	SLC25A42	SYNE1	COL5A1	BCORL1	SATB1	SNRPN	FKTN	SIM1	GRM1	FLVCR1	CNOT3	NDUFA8	COL6A1	P4HTM	FXR1	VPS35L	COL1A1	HACD1	CPSF3	ACP5	KCNK4	TRIP11	LSS	QRICH1	MKRN3	MEGF10	HMGA2	MYMK	IFT52	EGR2	SLC12A6	TBR1	TKFC	MBD5	AGRN	KMT2B	SLC12A2	INPPL1	MT-TH	CDK5	COL1A2	NEB	GLS	WDR62	H19	POLR3B	MYOD1	KARS1	PAK3	SHMT2	SHOC2	PHKA2	AHDC1	NARS1	MTPAP	ABCA2	HADH	SLC5A7	SNX14	GRIA3	AP3B1	HIBCH	BCL11B	EXOSC8	CHMP1A	PCYT2	CRPPA	ZNF711	TSHR	ABCC8	KY	TRIP4	DOCK3	MYH3	PNPLA2	EFEMP2	BCOR	KDELR2	SH3TC2	CCDC78	FITM2	TRPV6	EN1	HARS1	FUS	DLK1	KCNQ2	DCX	TRAPPC6B	CPLX1	ARCN1	GFM1	MED27	KDM1A	TMCO1	TGFB3	RUBCN	POMT2	OPHN1	PDK3	POLR1C	CHKB	TTN	TNPO3	PAX7	SUFU	LYRM4	ATP6AP2	TAOK1	BPTF	DEAF1	HERC2	UGP2	MSTO1	CHD5	HEPACAM	DPYD	HGSNAT	GBA1	NDP	PNKP	CRBN	HNRNPK	ELN	SH2B1	KCNJ11	MPZ	SCO2	NOVA2	ALG2	SPG21	BMPR1A	SLC18A3	ODC1	RAB3GAP1	ACTN2	KPTN	PPP2CA	NBEA	MT-CO1	AEBP1	SDHB	CACNA1C	VRK1	SLC1A4	SETD5	TMEM222	AHCY	MYO18B	CHRNB1	NSRP1	MAP3K20	H3-3A	AP3B2	ALDOA	PPP2R1A	POR	SMPD1	ITPR1	COG1	NUBPL	RAI1	TAFAZZIN	FRMD5	TRMT1	NFIX	NEK1	ASPA	GAN	SNAP25	ACTA1	SELENOI	NEXMIF	ATG5	COL6A3	GCK	TMEM63A	DPAGT1	KCNN2	CUBN	MEF2C	FIG4	SLC9A1	CDKN1C	CHD3	SH3PXD2B	CLDN11	GRIK2	CWC27	MICOS13	CHST14	TPM3	UBE2A	LMBRD2	NSD1	MESD	SDHA	MT-TN	SCN4A	OTUD6B	HYCC1	DYNC1I2	HPDL	ANKRD17	CASK	SLC39A8	ATP6V0A2	DHPS	NAA10	AMN	COL2A1	DNASE2	GPC3	COL3A1	FMR1	MFF	ATP1A1	NTNG2	TSPOAP1	GALNS	B3GAT3	NT5C2	ORC6	PUM1	PMP22	MYO7A	SUCLA2	ACAT1	JAG1	FGF3	ZSWIM6	KCNA4	LARGE1	MT-CO3	POMGNT1	NONO	HOXA1	FAR1	CSNK2B	SEPSECS	ACADSB	MT-ND1	CNOT1	UBA2	EXTL3	TSEN2	WDR4	CYP3A4	KIAA0753	UGDH	DPM3	FBN1	IPO8	IDH1	VPS41	TUBG1	CANT1	PDX1	PLOD1	FBXL3	IFT140	PLP1	ATL1	SUCLG1	COQ7	TRIM8	TMEM38B	ZNF592	RSPRY1	MT-TL1	GALE	TUBB4A	TET3	EIF2AK1	MED12	NALCN	KAT6A	NCDN	FGFR3	ALDH5A1	CELF2	NDRG1	KDM5B	KCNC3	MED12L	KBTBD13	CREBBP	ASPM	FLRT1	GFPT1	SCN11A	MYH7	KMT2C	VAMP1	SLC6A8	PAK1	ADGRL1	YY1	RALA	FGD4	SPTLC1	AGO2	CNKSR2	LTBP4	DDOST	SRD5A3	FNIP1	HDAC4	ASXL3	PTCH1	TMEM106B	MT-ND6	ADAMTS2	GPSM2	COA8	FOXP1	PIGO	SMARCD1	MYPN	MED13L	CLP1	SETD1A	MARS1	FRMPD4	TNFRSF11B	MT-TS2	TUBB	CTDP1	PCDH15	PLEC	PTEN	GJB1	KLHL15	DPF2	MID1	MLC1	MT-TQ	DAG1	MT-TE	ZNF148	ALDH18A1	SVBP	ASAH1	SLC9A7	MYL1	KDM4B	TMEM147	CIC	CSGALNACT1	SPTBN1	MYO9A	COL13A1	SLC16A2	NUDT2	KMT2E	GLRB	NAA20	TNNT1	PWRN1	SPTBN4	TBC1D24	COQ2	EPRS1	PWAR1	ZMYND11	GMNN	ARHGEF2	FBLN5	ALG12	CHRNA1	CNOT2	VPS13D	RAC1	INPP5E	TSPAN12	CHAT	REV3L	CHST3	NIPA2	ERLIN2	TSEN34	MYT1L	PTRH2	ADARB1	PI4KA	MFN2	CLCN3	CDK13	CPT1A	SCN8A	RSRC1	MTM1	FTSJ1	CDK8	SLC18A2	SCN2A	PBX1	GGPS1	MCEE	PCDH19	NTNG1	MLIP	B3GALT6	XYLT1	TUBA1A	HUWE1	MDH2	NFASC	GDAP1	SET	MPV17	ATP6V0A1	RNF125	LAMB2	PMPCA	WWOX	LBR	TLK2	AHI1	DNM2	AUTS2	PLPBP	KCNA1	SIGMAR1	TRAPPC9	POGZ	EHMT1	WDR73	TH	MMP13	KDM3B	VARS1	PCBD1	NDUFA12	SHANK3	VDR	LIG1	SMARCAL1	TRMU	HSD17B4	PNP	MAN1B1	ITCH	LMNB2	RPL10	ADA2	CFL2	MPDZ	HIVEP2	RNF170	FOXG1	ZNF408	LTBP1	TNRC6B	PPIL1	KLHL40	DMXL2	HPRT1	THG1L	CLCN7	ARID1B	MYRF	IQSEC1	SIK3	SLC25A46	RORA	SLC39A13	SPR	MINPP1	TENT5A	PRKRA	AARS2	MBTPS2	EXOC6B	CLCN6	UQCRFS1	TMEM94	RPS6KA3	ARL13B	AK9	FBN2	TRAPPC10	RBPJ	CPE	SBF2	ELOVL1	GNB5	LAMB1	MAPRE2	RNU12	NOTCH3	TRIP12	CNTNAP2	GRIA1	GABBR2	NDUFA4	FKBP14	GTPBP2	NGLY1	FBXO11	EXT2	RAB11B	ZC4H2	NEU1	GARS1	ATG7	ARPC4	SCYL1	BRAT1	GEMIN4	NEUROD2	PPFIBP1	PACS2	TRPV4	PUS7	NEPRO	RRAS2	GALK1	TUBB3	POLR1D	ATP10A	DOK7	GHR	HELLS	SLC25A12	RALGAPA1	SIAH1	NDUFA1	NKX3-2	GAA	NPHP1	PSMG2	EPG5	NUS1	IL6ST	MRAS	DARS1	NPAP1	PTCH2	ALMS1	MAOA	TANGO2	STAT3	COL5A2	CIB2	ATP6V1E1	ATP1A3	KAT8	TTI2	RNF220	PLAG1	H4C5	SNORD116-1	ANAPC7	HNMT	COG4	LMX1B	EXOSC3	POMK	SLC6A3	CCDC134	RBM8A	DOLK	NRAS	MAN2C1	DNM1L	ZBTB7A	PRIM1	CDC40	ACTB	NHLRC2	PSMB1	SARDH	ATXN7	TNR	MBOAT7	LINS1	RAB3GAP2	STT3A	SON	CAMK2B	SURF1	TANC2	MYF6	DPH2	CADM3	MT-CO2	SLC25A15	GRIN2B	POLR2A	PHEX	MSL3	KIF7	RAPSN	HADHB	GALC	INS	COPB1	WLS	TRIT1	TRMT10A	SIN3A	PGM1	PHKB	ALG14	CYP2R1	PYGL	TFG	GNAI1	CUL3	OGDH	MT-TW	MRPS14	KAT6B	DNAJC19	ARID2	PAFAH1B1	ACBD5
HP_POLYNEUROPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYNEUROPATHY	MT-CYB	HLA-DQB1	NAGS	DGUOK	TMEM70	SLC12A6	MYOT	SETX	GRM1	SPTBN1	NGLY1	MT-ND5	TTR	ARL6IP1	DHH	PRPS1	PDYN	RPIA	PEX7	MT-ND4	ALAD	TBC1D24	HYCC1	GCLC	ERCC8	MT-CO3	OPA1	MT-ND6	FUCA1	MT-ND2	LDB3	NF1	DMXL2	SYNE1	CD59	NF2	PSAP	COQ7	MYD88	ABCD1	PEX12	LITAF	MT-ND4L	CYP7B1	ERCC6	ATP7B	PMM2	SEPTIN9	PSMC3	AIFM1	UQCRC1	MT-ND1	MT-ATP6	ATXN10	PEX11B	SNAP29	EDNRB	GSN	MTRFR	DARS2	HLA-DQA1
HP_CEREBELLAR_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBELLAR_ATROPHY	PCLO	NDUFA9	PNPLA6	WDR4	FKRP	EEF2	VLDLR	FBXL4	HTT	CUL4B	MTHFS	TBP	POMT1	GRIA2	DAB1	SAMD9L	KCND3	PDYN	RNASEH2A	FKTN	SERAC1	DNAJC3	VPS41	OPA1	PNPT1	NKX6-2	COQ8A	PIGK	TMEM240	ALG1	NARS2	FMR1	FAR1	IFIH1	PEX10	SYNE1	ATXN8OS	ATP1A2	COL18A1	RRM2B	SYT14	SH3TC2	ATP8A2	MORC2	SLC39A8	TUBB4A	TRAPPC4	SLC25A46	LETM1	CACNA2D2	GRM1	PLK4	TPP1	ALG3	SCN2A	RNF216	ALDH5A1	TAF1	WARS2	FDXR	KCNC3	MFSD8	POLG	DPM1	HK1	TBCE	TOP3A	GEMIN5	VPS4A	KIF1A	CARS2	HSD17B4	ATP13A2	PIGN	VPS11	GFAP	KCTD7	SCYL1	PIGQ	QARS1	FA2H	NALCN	CLTC	SLC1A3	DMXL2	MGME1	HDAC4	ATAD3A	KATNB1	NMNAT1	UBA5	CYP27A1	ITPR1	POLG2	DNMT1	GTF2E2	LAGE3	TTPA	DEGS1	ANO10	PRNP	PIK3R5	CDC42	EBF3	MME	TDP1	ABHD12	RNASEH1	BCAS3	CPLX1	PEX2	FAT2	RUBCN	LIG3	MRE11	ZNF335	SRD5A3	TUBB	CTBP1	GJB1	PLP1	ZNHIT3	SIK1	FOXRED1	VPS50	MAN2B1	SC5D	COA7	REPS1	EXOSC3	GBA2	NUP214	EXOSC2	SLC25A4	GPAA1	SEPSECS	KCNJ10	STT3B	OPA3	DHX30	FGF12	MCOLN1	STXBP1	PLA2G6	BEAN1	PRUNE1	TBC1D24	RTTN	CCDC88C	TOR1A	COQ2	AP4B1	COX20	GRM7	EPRS1	CYFIP2	ERCC8	TGM6	CLPB	POGZ	AFG3L2	RNF13	DOHH	COG5	SLC33A1	PACS1	ATP6V0A1	TSEN2	TBC1D20	SLC9A6	FCSK	SEMA6B	PIGA	CACNA1G	HEXB	SACS	STUB1	CDKL5	PI4KA	ATXN10	PIGT	WDR45	ATXN1	COL4A1	FGF14	MAPK8IP3	COG7	CYB5R3	DARS2	POLA1	ZMIZ1	PCNA	YIF1B	APTX	PIGG	CTSF	CRAT	CASK	ATP6V1A	POLR3A	SHANK3	NDE1	DNM1L	RBL2	SPTBN2	SPTAN1	MDH2	NFASC	TBC1D2B	ARF1	SIL1	PMPCA	CARS1	PITRM1	POLR3K	RFC1	PPP2R2B	PIGP	TMX2	AP4E1	LYST	WWOX	ATXN3	ZPR1	BTD	ELOVL5	KCNA1	CNTNAP1	ATXN2	TRAPPC11	TWNK	BCORL1	VARS1	COG8	KCNMA1	PLD3	XRCC1	TXN2	NDUFA8	ERCC6	SPART	KAT5	CLN8	GDAP2	TUBB2B	CACNA1A	ATP2B3	SLC44A1	PRDX3	PRKCG	C19orf12	RNF170	PLCH1	XRCC4	ARG1	UCHL1	GRN	CLCN7	ACO2	AGTPBP1	NDUFS4	UFM1	UBTF	ADSL	RORA	GLS	POLR3B	KCNC1	SLC25A22	ZIC1	GNS	WDR81	PMM2	MFF	GNAO1	SUMF1	BCS1L	MARS2	CNP	GTF2H5	FRRS1L	SCARB2	SOD1	CLN5	EXOSC5	RARS2	CRPPA	RNU12	BCL11A	SETX	PMPCB	TRIM8	GON7	CNTNAP2	GTPBP2	MYH3	NGLY1	LAMA2	NDUFAF4	DHCR7	MPLKIP	NOP56	TBCD	SLC39A14	SCO2	GRIN1	ARX	TRAPPC6B	ACY1	ARCN1	VWA3B	MED27	NADK2	BRAT1	CLN3	PRRT2	POLR1C	WDR73	TTC19	ELOVL4	CWF19L1	SNX14	MECR	ARMC9	MRM2	ATP6AP2	CCDC88A	YRDC	NDUFA1	SPG7	HEPACAM	EXOSC9	CIZ1	PNKP	ERCC3	CTSD	SCN1B	CERS1	PLAA	PTRH2	ATP1A3	STT3A	OSGEP	KIF1C	COQ5	TRPC3	VPS53	SCN8A	IBA57	SLC35A2	L2HGDH	PEX6	COQ9	LMX1B	MAG	AP4M1	AP3B2	GRID2	CYB5A	TARS1	IRF2BPL	ALG9	BCAP31	COG1	COG6	ACTL6B	TRMT1	IFRD1	CKAP2L	FARS2	ATXN7	SLC5A6	RELN	SLC9A1	LIPT1	CUX2	LNPK	ERCC2	GRIK2	RNF113A	NDUFS1	EMC1	MICOS13	CAMK2B	MVK	SQSTM1	CHP1	DLG4	PEX16	PIGU	MRPS34	AARS2	NEUROD2	AIMP2	HERC1	TECPR2	COX4I1	SDHA	GAD1	TK2	PUM1	SLC13A3	AP4S1	PIGS	ADPRS	SHQ1	TTBK2	NODAL	SCN1A
HP_ABNORMAL_CORPUS_CALLOSUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CORPUS_CALLOSUM_MORPHOLOGY	AMPD2	FGF8	LRP2	MT-ND4	KIF2A	ZIC2	ODC1	CACNA1E	POU1F1	YARS1	TMCO1	CUL4B	SPATA5	HS2ST1	EEF1A2	PLCH1	CPLANE1	PDHA1	ZBTB20	RPGRIP1	GPC4	OTX2	TGIF1	PDYN	ZNF699	GABRA5	HYLS1	CPT2	B9D2	ZIC1	RNASEH2C	ALDH7A1	SPG11	CYP2U1	BMP4	SMARCB1	NODAL	NDUFB11	SETD2	ALDH18A1	GNPTAB	CAMK2A	FKRP	PGAP1	DPYSL5	SPATA5L1	SIX3	TCF12	NSD2	ATP1A2	VPS51	MFSD2A	FBXW11	COX7B	DISP1	ATP8A2	WDR26	DYNC2H1	DCC	NTRK2	TAF8	PUS3	MBTPS2	ZEB2	WAC	TMEM237	DLL1	RBM10	STAMBP	UNC80	CSPP1	HNRNPR	TAF1	DAG1	FDXR	ARID1B	TRAPPC14	ZBTB18	FGFR3	RNASEH2B	ANKLE2	HK1	RPGRIP1L	TBCE	KRAS	CREBBP	NRCAM	POLR3A	CFC1	TOPORS	VPS4A	POMT1	CACNA1A	LMNB1	EXOSC9	CARS2	HSD17B4	RPS6KA3	TRIP13	RUSC2	EOMES	YWHAG	AP1G1	KAT6B	KIDINS220	TMEM218	TSEN54	SRPX2	PIGQ	MACF1	PPP2R5D	MKS1	CLTC	GMPPB	LONP1	C12orf57	CC2D2A	KIF7	FLII	AIMP1	KATNB1	NMNAT1	FGFR1	TUBGCP2	EMX2	LARGE1	KMT2A	POMGNT1	SOX3	IGBP1	ARID1A	GLI2	CHKA	LHX3	UBA5	ZNF526	TMTC3	ATN1	DDHD2	TP73	COL4A1	RAI1	ATP6V1A	EIF2S3	BCAS3	CDON	WT1	SLC30A9	SUFU	GRIA4	ARX	CLP1	POMGNT2	GRIN1	MINPP1	ASNS	MOCS1	SUPT16H	LIG3	CDH2	ZNF335	MAP1B	TUBB2B	DHCR24	SPEN	TRRAP	SCYL2	GABRA2	SIK1	COPB2	CRPPA	REPS1	PCGF2	TUBB	LETM1	MT-ND5	DHX16	SEPSECS	PIGB	ERMARD	AGTPBP1	GABRD	PTDSS1	SCN3A	TSEN15	IGF1R	HID1	GRM7	TCTN3	PAFAH1B1	COG2	CTNNB1	FOXG1	FRMD4A	RNF13	TCF4	UBE3B	HIC1	TSEN2	GOT2	SLC9A6	FCSK	IBA57	ZNF423	ALX3	TTC5	RB1	GPC3	ERCC5	CDKL5	FANCI	MTHFR	WNT3	PAH	GJC2	LSM11	HESX1	GPT2	CTU2	VPS13B	APC2	MAPK8IP3	TUBB2A	MCPH1	TUBA1A	TRMT10A	HCN1	COG7	VAC14	POLR3GL	ASXL1	DARS2	MRPS25	SLC35A2	ZMIZ1	NRAS	ATAD3A	YIF1B	MOGS	MAN2B1	FLI1	PIGG	SON	FOXH1	PGAP3	SHANK3	L1CAM	NDE1	STAG2	DNM1L	RBL2	TTI2	KIF14	SPTAN1	ARSI	FKTN	SHH	TCTN2	SLC13A5	SIN3B	RAB3GAP2	DYRK1A	MT-TF	GRIN2A	SOX11	ZNF462	PSAP	LRRC32	CARS1	POLR3K	AP4E1	ARV1	NFIA	SIN3A	TUBB3	MED23	STUB1	FLCN	MED25	CEP63	FZR1	SYNJ1	SLC1A2	FDFT1	TRAPPC9	LYRM7	BUB1	ARNT2	CNOT3	NDUFA8	RNU4ATAC	TMEM260	ERCC6	KATNIP	KAT5	CPSF3	STIL	WDR4	KCNK4	SCN8A	FA2H	POLRMT	SACS	LSS	NF1	NAA10	NECAP1	KIFBP	KCTD7	RAB18	NANS	TRAPPC10	CSF1R	IFT52	GPKOW	FGF13	CTBP1	SSR4	ATP1A3	INPP5E	COASY	ATPAF2	PAX6	CNTNAP1	SYNGAP1	DPH1	CDK5RAP2	ARMC9	AP4B1	UBTF	MT-TH	CDK5	FGFRL1	NDUFB7	DHDDS	HCCS	CCDC47	WDR62	SLC25A22	BUB1B	SHMT2	WDR81	SHOC2	AHDC1	IFT80	FGF12	GNAO1	CPLX1	PEX1	EML1	CLCN4	DDX3X	CNP	GTF2H5	GRIA3	OTUD6B	BICD2	HIBCH	DPAGT1	EXOSC8	CLN5	TBC1D20	LMBR1	FH	CHMP1A	FAT4	PPP1R21	GCSH	ECHS1	GON7	MAPKAPK5	SLC25A19	POLR3B	PPP1R15B	AP5Z1	SLC6A9	RERE	SMC1A	PPP3CA	DCX	TRAPPC6B	TMEM216	RAC1	GFM1	AHCY	MED27	KDM1A	PIGH	RECQL4	HACE1	PRRX1	POLR1C	WDR73	ALG3	GABRB2	PIK3R2	BRAT1	ATP6AP2	CCDC88A	B9D1	PTCH1	TOE1	UGP2	SMARCC2	PIGN	POMK	PHGDH	MOCS2	DPYD	SUZ12	TARS2	TMEM67	CIT	TMEM231	GLI3	GBA1	PNKP	HNRNPK	TAF2	ERCC3	NSUN2	SCN1B	KCNA2	PLAA	GLDC	RARS1	PCNT	NOVA2	OSGEP	RNASEH2A	VPS53	CEP85L	PRMT7	RAB3GAP1	ACER3	ZFYVE26	PPP2CA	MT-CO1	GLB1	OFD1	PRKCZ	SETBP1	MRPS22	SLC1A4	PROP1	TOGARAM1	ALDH6A1	POMT2	PPP2R1A	SOX4	ADAT3	B3GALNT2	NSRP1	MAG	H3-3A	AP3B2	SOX2	AKT3	PUF60	ITPR1	ALG2	ALX1	TDGF1	DCHS1	NFIX	TUBG1	PITX1	WWOX	SMO	GFER	CEP104	SNAP29	CCDC174	SLC25A24	NUP188	RELN	KCNB1	NPHP1	PARS2	OGDHL	AHI1	GALC	SH3PXD2B	LNPK	PPP1R12A	GRIK2	RNF113A	FAR1	SIX6	VPS11	TMEM138	LMBRD2	NSD1	STXBP1	UBE4B	BCOR	TGFB1	GAS1	PYCR1	PIGA	DYNC1I2	HPDL	ATP11A	MAST1	PPP2R3C	IDS	SYT2	TBCK	DPF2	PEX16	SAMHD1	ADAR	EXOC8	PIGU	MDH1	PDHX	USP9X	AIFM1	DDX59	EMC1	CYFIP2	NEUROD2	TECPR2	NT5C2	GAD1	NEXMIF	AP4S1	TYROBP	EFNB1	FAM149B1	SALL1	MT-CO3	NONO	PORCN	RSPO2	MT-ND1	PCLO	CYP11A1	MEF2C	SZT2	NDUFA2	C2orf69	FBXL4	SASS6	KIAA0753	DEAF1	DNM1	HNRNPU	KCNT1	FGFR2	CASZ1	PHC1	CACNA2D1	CDK19	VPS41	CNOT1	DYNC2I1	B4GAT1	FBXO28	NKX6-2	KIAA0586	SMARCE1	EXTL3	KCNQ2	NARS2	DIAPH1	IFT140	WDR35	FLVCR2	DHCR7	HSPG2	PDHB	SLC12A2	MT-TL1	CBY1	TBC1D7	SMARCA4	LIG4	TBC1D23	TUBA8	CEP120	CWF19L1	MED12	NALCN	GPX4	SCN2A	ACTL6B	EXOC7	KDM5B	DIS3L2	TCTN1	MED12L	CEP290	GFM2	ASPM	ZDHHC9	KMT2C	SLC6A8	ATP13A2	HSPA9	YY1	EARS2	POU3F3	VAMP2	TRAPPC12	PRDM16	RMND1	QARS1	EHMT1	C2CD3	DMXL2	HDAC4	ASXL3	GTF2E2	TMEM106B	MT-ND6	PDPN	CEP41	CENPJ	CDC42	GPSM2	ACY1	SMARCD1	FRMPD4	MT-TS2	VAX1	FIG4	PRKDC	KANSL1	NCAPD3	PLP1	ACTG1	MID1	MT-TQ	ZNF148	H1-4	MT-CYB	VPS50	RXYLT1	PDE6D	GBA2	SVBP	TAF13	BUB3	KDM4B	TMEM147	GLYCTK	NUDT2	KMT2E	FANCB	MCOLN1	PRUNE1	RTTN	EPRS1	WDR45B	POGZ	ALG12	MAP2K2	DOHH	EPG5	EXOC2	SLC12A6	CDK10	DONSON	MPLKIP	CDK6	COG4	CENPF	DDB1	ERLIN2	MTRFR	NRROS	TSEN34	MYT1L	CENPE	ADARB1	PI4KA	B3GLCT	CLCN3	CDK13	AARS1	MMP23B	TRAK1	ADCY5	ANKRD11	ATL1	CDK8	EP300	ACTB	CASK	OCA2	ALX4	HUWE1	MDH2	ZSWIM6	HRAS	DISC1	CEP135	EXOSC1	GDF1	PIGP	TMX2	BRF1	CELF2	ZNHIT3	THOC6	CILK1	FOXA2	ALG8	KDM3B	AMER1	VARS1	AMT	RSPRY1	DACT1	POLG2	SLC25A1	VRK1	HIVEP2	TXNDC15	PLPBP	CACNA1B	FANCD2	RNU7-1	MCM7	PYCR2	TMEM107	RHOBTB2	FLNA	PPIL1	SMG9	PIBF1	SKI	VARS2	MLH1	PNPT1	CNKSR2	MTOR	ACO2	ARFGEF2	SLC25A46	THUMPD1	RORA	NDUFAF5	NTN1	SMARCA2	PTPN23	TREM2	PROKR2	TIAM1	TMEM70	GLRX5	PSAT1	GLUL	LAMB1	SEC31A	MAPRE2	TRIM8	SPG21	SLC38A3	SLC25A10	GTPBP2	KNL1	IQSEC2	NARS1	TBCD	LHX4	LUZP1	PRPS1	KCNT2	ARHGAP31	ATG7	KIF5C	CD96	VWA3B	MRPS16	NADK2	GABRB1	RAD51	DDX6	PPFIBP1	ARL13B	DOCK7	BLTP1	DYNC2I2	AHSG	KCNAB2	TMEM251	RALGAPA1	PIK3C2A	UBE3A	TREX1	NELFA	HHAT	PRORP	MAF	DARS1	KCNA1	CDC42BPB	EIF2AK2	CEP57	HTRA2	DYNC1H1	IER3IP1	SNIP1	YWHAE	KAT8	CACNA1I	RAB23	RNF220	L2HGDH	UPF3B	DALRD3	EXOSC3	RAC3	ZFR	AP4M1	ITGB6	TARS1	MAN2C1	IRF2BPL	BCAP31	CDC40	SF3B2	COG6	HERC1	KIF15	NHLRC2	USP7	PIEZO2	GABRG2	SLC5A6	TNR	OSTM1	ARID2	ABAT	ARL3	ERCC2	NR2F1	VANGL2	MT-CO2	GRIN2D	POLR2A	CTNNA2	PMS2	PLXNA1	NKX2-1	ATRX	IFIH1	CEP152	OPA1	CRIPT	NEDD4L	WLS	FUZ	METTL5	GABBR2	AIMP2	ABHD16A	BRAF	OTUD5	NUS1	EBP	DNAL4	ADNP	MT-TW
HP_AGENESIS_OF_CORPUS_CALLOSUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGENESIS_OF_CORPUS_CALLOSUM	PIGN	MT-ND4	CYP11A1	ZIC2	KAT6B	POU1F1	YARS1	STIL	HS2ST1	SASS6	PLCH1	PDHA1	HNRNPU	FGFR2	GPC4	OTX2	TGIF1	PDYN	ZNF699	HYLS1	CASZ1	PHC1	CPT2	FKTN	ZIC1	SPG11	CNOT1	SMARCB1	NODAL	DYNC2I1	NDUFB11	B4GAT1	KRAS	NARS2	FKRP	PGAP1	WDR35	FLVCR2	DPYSL5	SIX3	ASXL1	TCF12	NSD2	PDHX	HSPG2	PDHB	SLC12A2	MT-TL1	DISP1	SMARCA4	KIF14	GLI3	DYNC2H1	DCC	TUBA8	MBTPS2	ZEB2	CWF19L1	MED12	GPX4	POMK	DLL1	IGBP1	HNRNPR	DAG1	GAS1	KDM5B	DIS3L2	ARID1B	TRAPPC14	ZBTB18	SHH	MED12L	ANKLE2	CREBBP	POLR3A	ASPM	POMT1	CFC1	FOXH1	FGF8	HSPA9	EOMES	YY1	AP1G1	SMO	KIDINS220	TRAPPC12	PRDM16	MKS1	GMPPB	EHMT1	ARNT2	KATNB1	FGFR1	KIF7	EMX2	LARGE1	HNRNPK	GTF2E2	POMGNT1	SOX3	MT-ND6	ARID1A	GLI2	LHX3	PDPN	CENPJ	GPSM2	CEP41	TP73	COL4A1	SMARCD1	CDON	PRRX1	SLC30A9	MT-TS2	ARX	POMGNT2	VAX1	SUPT16H	FIG4	CDH2	ZNF335	NCAPD3	TUBB2B	DHCR24	SPEN	SCYL2	ACTG1	MID1	MT-TQ	CIT	ZNF148	MT-CYB	RXYLT1	CRPPA	POMT2	HCCS	L1CAM	TAF13	TUBB	LETM1	MT-ND5	CPLX1	DHX16	KDM4B	GABRD	PTDSS1	KIAA0753	RTTN	FOXG1	FRMD4A	OFD1	EPG5	SLC12A6	FCSK	MPLKIP	CDK6	CENPF	CEP120	TTC5	GPC3	ERCC5	TCTN3	FANCI	MTHFR	WNT3	CENPE	B3GLCT	HESX1	CLCN3	CDK13	MMP23B	CTU2	MCPH1	CDK5RAP2	VAC14	TUBB3	NDE1	CDK8	MRPS25	EP300	ACTB	TMEM237	FLI1	DCHS1	SHANK3	COX7B	TUBA1A	MFSD2A	ZSWIM6	DISC1	C12orf57	SMC1A	RAB3GAP2	MT-TF	CEP135	SMARCE1	SOX11	ZNF462	LRRC32	GDF1	ALX4	NFIA	RAB3GAP1	PUF60	CILK1	CEP63	FOXA2	AMER1	AMT	DACT1	TMEM260	SLC25A1	ADAT3	ERCC6	KAT5	WDR4	DDX59	SUFU	FANCD2	TRAPPC10	CSF1R	MCM7	PYCR2	PTCH1	CTBP1	PPIL1	AHI1	TDGF1	DPH1	SKI	MLH1	BMP4	MT-TH	CDK5	FGFRL1	THUMPD1	NDUFAF5	NTN1	IFT80	EML1	GTF2H5	PROKR2	HIBCH	CC2D2A	FH	FAT4	SEC31A	GCSH	SLC25A19	KNL1	DHCR7	LHX4	LUZP1	DCX	MRPS16	LRP2	RAD51	RECQL4	INPP5E	COPB2	DYNC2I2	PIGG	KCNAB2	PROP1	SMARCC2	PHGDH	WDR62	DPYD	SUZ12	NELFA	ERCC3	CDC42BPB	GLDC	RERE	STAG2	MT-CO1	PRKCZ	PPP2R1A	SOX4	RAC3	C2CD3	B3GALNT2	H3-3A	TARS1	SOX2	MAN2C1	ALX1	CDC40	SF3B2	KIF15	CARS1	NFIX	PIEZO2	TNR	RELN	OSTM1	NPHP1	LONP1	CPLANE1	ARID2	ABAT	ERCC2	PPP1R12A	RNF113A	SIX6	NSD1	RPGRIP1L	VANGL2	KANSL1	MT-CO2	UBE4B	POLR2A	PMS2	PLXNA1	NKX2-1	PYCR1	DYNC1I2	ATRX	CEP152	PPP2R3C	DPF2	ALX3	MDH1	FUZ	METTL5	OTUD5	RNU4ATAC	MED25	EFNB1	DNAL4	SALL1	MT-CO3	PORCN	MT-TW	BUB1B	RSPO2	MT-ND1
HP_HYPERTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTONIA	KIF2A	NDUFA9	ODC1	SPG7	CACNA1E	VPS37D	ADCY5	PI4KA	SPATA5	HS2ST1	PLCH1	NEFH	SLC2A1	GABRA5	RNASEH2C	KCNJ6	CYP2U1	RNU4ATAC	SPG11	RTN2	ADAR	ALDH18A1	FAR1	PGAP1	SIX3	SPOP	GSX2	NKX6-2	FBXW11	MSH2	ITM2B	MORC2	ATP2B3	KLC2	PPT1	EIF2B5	TAF8	MECP2	ARV1	DLL1	NDUFA2	STAMBP	FDXR	COQ2	GUF1	ARX	RNASEH2B	POLR3A	VPS4A	ERCC5	LMNB1	EXOSC9	BCKDHA	NOTCH1	CHMP2B	GBA1	HLA-DQB1	PIGN	PRRT2	PLP1	RUSC2	MECR	WARS2	YWHAG	FDX2	NDUFA13	POMT2	INTS8	GLRX5	ATP6AP2	TCF20	APC	LINGO1	FKBP6	AIMP1	NCAPG2	ATAD3A	KATNB1	MT-ND6	TUBGCP2	DNMT1	NAGA	KDM5C	MT-ATP6	CHKA	UBA5	FBXO7	DYM	ATN1	DDHD2	FGF8	CYP7B1	ACP5	GNB1	SMC1A	GLI2	GRIA4	CLP1	TPRKB	ASNS	MOCS1	EBP	ZNF335	BICD2	SCYL2	GABRA2	SCN1B	COPB2	ZBTB11	REPS1	SLC1A3	EXOSC3	SOX10	FGFR1	SLC25A4	IKBKG	TANGO2	SEPSECS	OPA3	ATP7A	EZH2	VAMP1	STXBP1	MAPT	TTPA	PLA2G6	ZIC2	TOR1A	SCN3A	TMEM63C	DDB2	FUCA1	ALG11	DNAJC13	ABCA7	ARSA	INPP5K	ERCC2	KIDINS220	TSEN2	THOC2	ALS2	SEMA6B	HTRA1	CACNA1G	SLC6A19	SURF1	CDKL5	APOE	TPK1	GJC2	NR4A2	TNPO2	NDUFS8	SQSTM1	IDUA	WDR45	ATXN1	HEXB	HCN1	PON1	POLR3GL	CNPY3	GMPPB	TRAF7	CCNF	SORL1	UBAP1	DARS2	MAN2B1	SLC19A3	EIF4H	MTRR	CKAP2L	FRMD4A	SNCA	GCH1	ARSI	PEX3	PEX11B	C12orf57	RAB3GAP2	AUH	NEFL	PTS	METTL5	UNC80	TREM2	SDHD	AP4E1	SPART	PARK7	AMPD2	MED23	ACD	KCNA1	STUB1	WASHC4	VPS13C	PDCD1	PEX12	MED25	FZR1	SYNJ1	DISP1	LYRM7	GRM1	SLC33A1	NEK1	CPSF3	GDAP2	GLRB	STIL	WDR4	HPDL	SCN8A	SACS	NECAP1	STN1	UNC13A	C19orf12	METTL27	ATP1A3	MT-ND5	SYNGAP1	SATB1	AP4B1	NDUFS4	MARS1	WDR62	SLC17A5	POLR3B	SLC25A22	SLC18A2	SHMT2	TMEM231	LIPT2	NARS1	MTPAP	GLUD2	PAX1	UQCRC1	ERCC4	FGF12	GNAO1	ARG1	GCDH	EML1	KRAS	CLCN4	DDX3X	GLE1	CNP	SNX14	GRIA3	OTUD6B	FRRS1L	GRIN2B	GRIN2D	VPS37A	CP	TBC1D20	CHMP1A	PDE8B	PCYT2	GFAP	NOTCH2NLC	ECHS1	NCF1	MLH1	SUZ12	PPP1R15B	ABCD1	NOP56	FOXRED1	SLC6A9	TACO1	RERE	FKTN	ADD3	FUS	EIF2B1	SNORD118	KDM1A	HACE1	CLN3	DLD	TTC19	GM2A	BRAT1	TUBGCP6	TOE1	UGP2	MOCS2	PQBP1	DPYD	ASAH1	TIMM50	NUP62	NDUFS2	ERCC3	PSEN2	PEX19	ATRX	KCNA2	NUP133	NAXE	NOVA2	GIGYF2	RNASEH2A	PRNP	VPS53	ERLIN2	PEX2	CEP85L	AASS	MYO5A	ZFYVE26	VCP	GLRA1	HEPACAM	CACNA1C	SLC1A4	ELP2	HSD17B10	PNPLA6	ADAT3	MAG	CYB5A	PNPT1	MED17	MT-TP	AP1S2	SCN1A	UBQLN2	NUBPL	FRMD5	CARS1	NFIX	CAMK2A	CRLF1	EPCAM	GAN	CTC1	WWOX	NEXMIF	UFC1	KCNB1	DPM1	PARS2	OGDHL	LIPT1	SCN2A	GALC	ANK3	LNPK	RAB3GAP1	GRIK2	RNF113A	TDGF1	VPS11	JPH3	ARL6IP1	TBCE	EYA1	TGFB1	MT-TW	PRPH	PIGA	CASK	ATP6V0A2	TTR	NAA10	OCLN	SAMHD1	DPAGT1	PIGU	MFF	JAM3	AIFM1	EMC1	BEAN1	CYFIP2	TSPOAP1	GPHN	GAD1	TK2	PTCH1	AP4S1	C9orf72	AFG3L2	PRDM8	SLC25A19	HNRNPA1	TFG	GTF2H5	SLC20A2	C2orf69	HSPD1	EIF4G1	HTT	NCAPD3	MTHFS	DNM1	UGDH	KCNT1	DAB1	GPT2	CACNA2D1	TBK1	ATXN2	VPS41	RAB27A	ACADS	EXTL3	PRKN	PHGDH	DDHD1	PDHX	SLC25A15	GLB1	SLC12A2	KANK1	PSPH	RAB39B	PSAT1	EIF2B3	TBL1XR1	L2HGDH	PEX1	EIF2AK1	ISCA2	ATP13A2	MCCC1	GJA1	ALG3	PCBD1	ACTL6B	PANK2	TAF1	LRRK2	GRIN1	HSPG2	NDUFA12	NDUFC2	KPNA3	FOXH1	PMPCA	ASXL2	SLC6A8	NDP	NSUN2	AP1G1	DHDDS	EARS2	POU3F3	TRAPPC12	SCYL1	FA2H	XPC	COA8	FOXP1	LRPPRC	MME	FRMPD4	GAMT	NDUFS3	ZC4H2	NEU1	HMGCL	ERCC6	NUP107	RANBP2	ATAD1	NDUFA4	PAX3	SPTBN1	SLC16A2	ADH1C	NACC1	PRUNE1	RTTN	CCDC88C	WDR45B	SLC6A5	CLPB	HTRA2	OSGEP	NDUFV1	GSS	ATP6V0A1	EXOC2	VPS13D	PSAP	MARS2	COG4	ARHGAP31	MTRFR	MSH6	NDUFAF3	ADARB1	MT-TV	CLCN3	AARS1	TRAK1	FLNA	ATP1A2	CYB5R3	ELN	ERCC1	DNAJC6	ATL1	CLCF1	POLA1	TMEM67	MCEE	WASHC5	ALDH3A2	SDHAF1	SOD1	BMPR1A	KIF5A	SEMA4A	NFASC	PEX14	SIL1	L1CAM	DAO	COX8A	PTCD3	SPTBN2	EXOSC8	TMX2	LYST	NDUFA6	AUTS2	PLPBP	B4GALNT1	CELF2	CNTNAP1	SIGMAR1	ACOX1	WDR73	TH	PEX26	MPDU1	PNPO	KCNQ3	POMGNT1	ANKLE2	PNP	HIKESHI	NDUFV2	MATR3	TP53RK	IARS1	GLYCTK	AFF3	CRYAB	VRK1	PRKCG	RNF170	MT-TT	RAD50	RAB18	HPRT1	SMG9	AP3B2	ABCA12	CNKSR2	AGTPBP1	SCN4A	FAN1	PHACTR1	SPR	NDE1	PODXL	MINPP1	NDUFAF5	ANG	PTPN23	EDNRB	PINK1	SNCAIP	ABCC8	VPS13A	GBA2	UBE4A	TECPR2	ELOVL1	RARS2	SEC31A	SHH	SPG21	SLC38A3	GABBR2	GTPBP2	UBTF	DHCR7	LOXL1	IBA57	MPLKIP	CFAP410	RAB11B	TBCD	PNKD	PEX16	DDC	VWA3B	NADK2	PYCR2	PIK3CA	TUBB3	PLK4	MT-ND4	GTF2I	GABRB2	GLT8D1	GPAA1	SLC25A12	RALGAPA1	PLAA	KCNQ2	NTRK2	VAC14	ATXN8OS	CTSD	ZNF292	MT-ND2	ADGRG1	CDC42BPB	TBP	ATP6V1E1	COQ5	KARS1	TELO2	RNF220	CDON	SLC13A5	TSEN15	LMX1B	DALRD3	SUCLG1	XPA	AP4M1	TARS1	SOX2	ERLIN1	IRF2BPL	EIF2AK2	RFT1	ATXN10	GABRG2	SLC5A6	HNRNPH2	TNR	MBOAT7	TUFM	OPTN	STT3A	SON	CYP27A1	REEP2	CACNA1D	RPIA	NPC1	GTF2IRD2	LIMK1	MSL3	IFIH1	WDR48	MED13L	MT-TL1	TMEM270	SMPD1	MRPS34	WLS	FUZ	CLIC2	POLG2	TSEN54	GNAI1	SHQ1	OGDH	GJB1	DNAJC19	ROGDI	PMS1	OPA1	EEF1A2	GRIA2	TGIF1	SERAC1	MT-ND1	FARS2	ASXL3	NODAL	NDUFS7	TMEM240	NIPA1	NUS1	NPC2	SPATA5L1	EPM2A	MFSD2A	SCN9A	PCDH12	WDR26	SLC25A46	COX15	LETM1	ZEB2	DNAJC12	DOCK6	ATP7B	TINF2	POLG	HK1	CACNA1A	KIF1A	ERBB4	RPS6KA3	CPT1C	PEX5	AMACR	PIGQ	MACF1	CLTC	DCTN1	NDUFAF6	NPHP3	UFSP2	LBR	PEX6	DPH5	RNU7-1	EIF2B4	ZNF526	TMTC3	HLCS	ENTPD1	TCTN2	ABHD12	EIF2S3	BCAS3	SLC30A9	PRDM13	PON3	LARGE1	DHCR24	SIK1	FTO	RAD21	VPS35	DLAT	NUP214	SRPX2	IREB2	LAGE3	PFN1	COASY	HID1	GRM7	COG2	CTNNB1	RNF13	TARDBP	MCCC2	GOT2	REEP1	FCSK	RBPJ	PDHA1	SPAST	FMR1	LSM11	COL4A1	APC2	MAPK8IP3	TRMT10A	CCT5	DSTYK	ERCC8	BAZ1B	PARN	JAM2	YIF1B	PEX10	POMT1	FBLN1	ATP6V1A	DNM1L	DBT	SPTAN1	FGF13	PDGFRB	LIAS	SLC1A2	ARNT2	GBE1	NDUFA8	BRD4	ASPA	MGAT2	TYROBP	PAH	CARS2	NSD1	PEX13	CSF1R	SLC12A6	ATPAF2	APP	PITX3	ADAM22	KMT2B	UFM1	MICOS13	BCKDHB	OSTM1	BCL11B	SMPD4	MFN2	RETREG1	CLN5	EXOSC5	BCL7B	MTFMT	PMPCB	KY	ZFYVE27	PEX7	AP5Z1	BCOR	PPP3CA	DCX	GFM1	MED27	OPHN1	POLR1C	ELOVL4	NHLRC1	PSEN1	TARS2	CIT	TAF2	RARS1	KIF1C	DTYMK	ACER3	SETBP1	SDHB	MRPS22	COQ9	PNPLA8	MTO1	TMEM222	NSRP1	H3-3A	KCND3	SLC35C1	ARHGEF9	BUD23	TUBG1	RPS20	SELENOI	MT-TK	KCNN2	MICU1	CLDN11	SIX6	PMS2	LMBRD2	TP53	FKRP	GAS1	TTC26	SDHA	DYNC1I2	TIMM8A	DHPS	MLH3	MT-ND3	EXOC8	MDH1	NTNG2	NEUROD2	CAPN1	NT5C2	PUM1	CLN8	RNASET2	SUCLA2	ACAT1	ZSWIM6	KCNA4	EOGT	PCLO	SETX	CDK19	PRF1	B4GAT1	NARS2	SYNE1	ASXL1	RRM2B	ZNF592	TUBB4A	TRAPPC4	NDUFB8	TBC1D23	NALCN	KAT6A	SUOX	RTEL1	KCNC3	PCCB	GFM2	FLRT1	NDUFAF2	MLXIPL	SLC30A10	FIG4	SPTLC1	TOMM40	PDGFB	PON2	GMPPA	SRD5A3	CHCHD10	DMXL2	KIF11	UCHL1	GTF2E2	DEGS1	TMEM106B	NDUFA10	GRIN2A	PCCA	GATAD2B	SCO2	IMPDH2	CLIP2	USP8	TAF15	ACTA1	MLC1	MT-TI	H1-4	VPS50	SVBP	CNOT1	SOX4	MCOLN1	EPRS1	TUBGCP4	EIF2B2	COLGALT1	TSEN34	PET100	KIFBP	SLC6A3	NOTCH3	HLA-DRB1	PLCB1	NTNG1	KCNC2	TUBA1A	HUWE1	ARF1	BSCL2	MRE11	NFU1	RLIM	PIGP	ATXN3	FTL	GABRA1	EPHA4	HSD17B4	MT-TF	FXN	PAFAH1B1	CACNA1B	FOXG1	RHOBTB2	PPARGC1A	PPIL1	MIPEP	DLL4	VARS2	HDAC8	PSMC1	ADSL	GTF2IRD1	TWNK	SUMF1	BCS1L	ARL13B	RYR1	LAMB1	COL4A2	TRIM8	CNTNAP2	SLC25A10	NDUFAF4	BRF1	PCDH19	SLC39A14	PRPS1	SZT2	TREX1	DYRK1A	KIF5C	RFC2	DKC1	TBL2	GEMIN4	PPFIBP1	B3GALNT2	MRM2	ANXA11	AGA	QDPR	ISCA1	TXN2	PRORP	STX1A	DARS1	ATM	DNAJC30	NDUFS1	NIPBL	DYNC1H1	VAPB	NR2F1	DENND5A	H4C5	STAG2	SLC35A2	TRMT5	ZFR	TPI1	TERT	BOLA3	SMC3	EIF2AK3	CDC40	EED	ATXN7	SATB2	TGFBR2	CAMK2B	KYNU	CTNNA2	SLC2A3	CHP1	TDP1	BTD	ATP5MC3	COPB1	AARS2	TRIT1	ABHD16A	BRAF	LDHA	ALG9	ADNP	NAXD	MTHFR	PNKP
HP_ORTHOSTATIC_HYPOTENSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORTHOSTATIC_HYPOTENSION	VPS35	POU2AF1	LMNB1	COQ2	COL5A2	MMEL1	SNCA	CYP11B2	NTRK1	LEPR	ARSA	SPG11	GMPPA	CAV1	TTR	PSAP	DNAJC13	IL12RB1	ATP7A	CYB561	SPIB	GBA1	AAAS	TNPO3	DBH	IL12A	ELP1	GIGYF2	LEP	COL1A1	COL5A1	IRF5	LRRK2	TNFSF15	HEXB	GSN	EIF4G1	SIM1	CHRNA3	GBE1	CHCHD2
HP_SYNCOPE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNCOPE	TRPM4	TBX20	TRDN	SMARCE1	KCNQ1	GATA6	KCNJ11	KCNJ5	KIT	PKP2	MYOZ2	LMNA	CITED2	JUP	TNNC1	CAV3	PIK3CA	CTSH	CALM2	TERT	SMARCB1	AKAP9	HLA-DQB1	KCNH2	CALM1	PSEN1	ANK2	TECRL	SRSF2	ZNF365	MYBPC3	THPO	KCNE1	GNB2	SCN2B	HCN4	RYR2	NOS1AP	CLCNKB	TNNT2	SCN10A	CACNA1C	BAP1	SEMA3A	SCN5A	PSEN2	SCN3B	FLNC	SMO	TET2	ATP13A3	DBH	SLC6A5	NPPA	UCP2	CALM3	KCNE2	MGAT2	HLA-DRB1	HNF1A	SLMAP	PDGFB	ACTC1	CACNB2	KCNJ2	COQ2	SLC4A3	CASQ2	RANGRF	PRKAG2	TLL1	P2RY11	NOTCH2NLC	MOG	GPD1L	KIF20A	MYH6	ABCC8	TRAF7	SUFU	DSC2	DSP	CACNA2D1	KCND3	NTRK1	JAK2	AKT1	KCNE5	NKX2-5	BVES	SCN4B	KCNE3	RNF125	MPL	ALG10B	NF2	SNTA1	SCN1B	CACNA1D	TBX5	SCNN1A	ABCC9	TNFSF4	KCNJ8	GATA4	ASXL1	MYPN	HCRT	TNNI3	SLC12A3
HP_TETANY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TETANY	PTH	KCNJ1	CLDN16	HIRA	TBX1	TBCE	CYP27B1	SEC24C	GP1BB	ARVCF	SLC12A1	JMJD1C	CASR	SLC12A3	COMT	TRPM6	UFD1	GATA3	TCIRG1	CYP2R1	RREB1
HP_BULBAR_PALSY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BULBAR_PALSY	SLC25A1	ARSA	SLC52A2	TPM3	MATR3	FUS	PLAA	SLC52A3	VAMP1	NEB	COL13A1	TBK1	GIPC1	ACTA1	AGRN	SLC18A3	CHAT	LMOD3	C9orf72	DES	TARDBP	CHCHD10	SQSTM1	CHRNA1	ABCD1	TRPM7	DOK7	DNAJB6	MYH7	RYR1	SLC5A7	SYT2	CHRNE	AR	TPM2	SNAP25	BICD2	ATXN1	TK2	PET100	TIA1	MYO9A	VCP	GSN	SELENON	MTRFR	HK1
HP_AREFLEXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AREFLEXIA	STIM1	IGHMBP2	CHCHD10	TFG	MTMR14	HSPB1	UGDH	LRP12	MFN2	SAR1B	PDSS1	GAN	GBF1	FKTN	DNAJC3	NEFL	PNPT1	FBXO28	DPYD	NARS2	MORC2	FKRP	SUCLG1	UBA1	RRM2B	SPTLC1	PLEKHG5	SH3TC2	SLC25A46	KLC2	ALG6	DYSF	POMK	DAG1	POMT2	SLC25A21	POLG	SYT2	PRPS1	BIN1	KBTBD13	POMT1	GEMIN5	REEP1	VAMP1	VAPB	ACTA1	ERLIN1	DST	GLE1	FGD4	AARS1	ERGIC1	MYOT	XK	ERCC8	SPEG	RMND1	PPP2R5D	MYL2	ACOX1	RYR1	ARL6IP1	TPM2	TRIM2	GDAP1	LARGE1	ABHD5	AIFM1	HNRNPK	RETREG1	TTPA	JPH1	PRNP	PEX3	PRX	COL12A1	VCP	PIK3R5	HK1	KLHL41	EGR2	ENTPD1	COL4A1	INPP5K	PMP22	MPZ	TDP1	MYPN	GOSR2	MTTP	POMGNT2	HACD1	MRE11	PNPLA6	LRSAM1	ZC4H2	BICD2	GJB1	SCYL2	FBLN5	KARS1	LAMA2	RXYLT1	CRPPA	SLC1A3	ALDH18A1	MYH14	SOX10	SMN1	SNAP25	MYL1	DHX16	SLC25A4	PIGB	OPA3	OPA1	SQSTM1	DES	SPTBN4	MPV17	ISCU	TOR1A	KLHL9	CLPB	MYO1H	SLC25A1	CHAT	SACS	FXN	PNPLA2	SMN2	HSPB3	TWNK	INF2	SELENON	PEX11B	HSPB8	ATXN1	PLEKHG4	ALDH4A1	ATP1A2	MTM1	PDK3	SLC52A2	B4GAT1	NEB	APTX	PIEZO2	MARS1	PGM3	TPM3	SIL1	DNM1L	ARSI	SIGMAR1	SURF1	ERBB3	ERCC6	COL25A1	HARS1	ITGA7	LAMB2	OCRL	PDXK	DNM2	AMPD1	HADHA	ATXN3	MCM3AP	ASCC1	COX6A1	DNAJB2	FLVCR1	SLC5A6	XRCC1	GBE1	HSD17B4	FXR1	SPG11	MAP3K20	MED25	RFC1	CFL2	CARS2	MEGF10	PLEC	TTN	COL13A1	SLC12A6	TRIP4	PMP2	CNTNAP1	MME	TRPV4	ACO2	SYNE1	CDK5	PSMC1	ATP1A3	RAB7A	PMM2	FHL1	DKK1	PEX1	RAI1	SLC5A7	ASAH1	VPS13A	JAG1	GMPPB	SBF2	TECPR2	RNF170	SETX	PPP1R21	CNTNAP2	LPIN1	SBF1	IBA57	TBCD	GARS1	MT-TT	POMGNT1	PAX7	CNTN1	PLA2G6	KIF1A	GAA	PEX2	MYO9A	PRORP	TIMM50	LIFR	GFPT1	NOTCH2NLC	SCO2	ALG2	COLQ	SLC18A3	NDRG1	TRIM32	RILPL1	ACER3	LMNA	ATP1A1	ADCY6	PNKP	B3GALNT2	MAG	PEX12	YARS1	GIPC1	IFRD1	PEX10	GNE	SNAP29	PYROXD1	DPAGT1	MTRFR	DCAF8	LGI4	FIG4	WNK1	MYF6	CADM3	HINT1	CACNA1A	AGRN	C19orf12	PEX5	TYMP	COG7	ALG1	ATP6AP2	ATP11A	ANXA11	CD59	TCAP	HADHB	KCNK9	SCN9A	RNASEH1	POLG2	ALG14	KCNJ18	ORAI1	KIF1B	TBCK
HP_SPASTIC_TETRAPARESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTIC_TETRAPARESIS	PSAT1	LIPT1	LMNB1	AASS	FA2H	PAFAH1B1	PLP1	AFF3	SDHAF1	FBLN1	SOX4	STXBP1	PRUNE1	ERLIN2	ATP6V1A	ALS2	EARS2	ABCD1	SDHA	TACO1	RERE	SMC1A	KCNJ6	HSD17B10	PRPS1	SLC35A2	AUH	SDHB	L2HGDH	COA8	FAR1	LMX1B	TMEM222	IFIH1	NFU1	RNU7-1	GSS	PSAP	EXOSC8	MFSD2A	MT-ATP6	SDHD	REEP1	DYM	ALG3	PSEN1	PRDM8	TRAPPC4	MRM2	PHACTR1	WDR62	SLC18A2	EIF2S3	ADAR	LIPT2	APOE	GM2A	NUP62	STAMBP	MOCS1	KCNQ2	LYRM7	PLA2G6	SOD1	TNR	GUF1	ARX	TBCE
HP_MENINGITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MENINGITIS	FOXP3	DNASE1L3	BCL2	BTK	IGHM	WIPF1	TFRC	NDE1	PRTN3	ICOS	IL10	BLNK	CCR1	CYBC1	VANGL1	PIK3R1	TCF3	PRF1	HLA-B	IFNGR1	CFB	MEFV	TLR4	NLRC4	HLA-DPB1	RFXANK	XIAP	SH2D1A	C4A	TNFRSF13C	RFXAP	IL7	KLRC4	ARPC1B	JAK3	IL12A	CIITA	WAS	NLRP3	C4B	STAT4	TBK1	CD40LG	IL23R	CD19	BCL6	NCF1	HLA-DPA1	C8B	CXCR4	C8A	NCF2	RFX5	HLA-DRB1	SLC35C1	TNFRSF13B	CR2	IGLL1	UBAC2	TLR3	CYBA	RAG1	PTPN22	RAG2	P4HA2	MRTFA	CD79B	CYBB	SPI1	IL12A-AS1	LRRC8A	CARD9	FCGR3B	CTLA4	NCF4	FAS	ERAP1	CD79A
HP_GAIT_DISTURBANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GAIT_DISTURBANCE	MT-ND4	SPG7	CACNA1E	COL2A1	VPS37D	PI4KA	SPATA5	HSPB1	PLCH1	CPLANE1	MFN2	GABRA5	KCNQ5	GBF1	RNASEH2C	CYP2U1	NEFL	SPG11	TPM2	RTN2	ADAR	ALDH18A1	FMR1	SGCG	SIX3	GSX2	RNF113A	SLC25A4	MSH2	SH3TC2	ATP8A2	ASAH1	MORC2	SLC39A8	ATP2B3	SORD	KLC2	EIF2B5	PDE10A	MECP2	BSCL2	DLL1	TPP1	RFXANK	FDXR	COQ2	ADGRG1	ARX	RNASEH2B	SGCD	JAG2	TOP3A	NPR3	TOPORS	POMT1	DYSF	CHMP2B	RUSC2	MECR	WARS2	YWHAG	FDX2	PRPS1	PMP22	MAFB	ERCC8	POMT2	INTS8	GLRX5	APC	FKBP6	FLII	WARS1	UBE3A	ATAD3A	TRIM2	MT-ND6	ITPR1	ABHD5	HSPG2	KDM5C	ANO10	MT-ATP6	MKS1	CHKA	FBXO7	DYM	KLHL41	ATN1	TTN	FGF8	RAI1	TDP1	GNB1	SMC1A	POU4F1	GLI2	GRIA4	PEX2	NOP56	BICD2	GABRA2	IL12A-AS1	SCN1B	EXT2	CRPPA	REPS1	SMN1	MT-ND5	FGFR1	TANGO2	OPA3	CAMTA1	MYH7	CUL4B	ERMARD	GABRD	VAMP1	STXBP1	MAPT	TTPA	RFX5	PLA2G6	ZIC2	TOR1A	SMARCB1	SCN3A	TMEM63C	CHAMP1	FUCA1	DNAJC13	ARSA	LMNA	INPP5K	ATP1A3	SYT1	TCF4	THOC2	ALS2	SGCB	SLC9A6	SLC25A1	HTRA1	CACNA1G	AOPEP	GABRB3	RAPSN	HSPB3	DAG1	APOE	TPK1	SPEG	GJC2	NR4A2	TNPO2	PURA	FGF14	PSEN1	MT-TE	SPATA7	ALDH4A1	HCN1	BIN1	DCC	PDK3	CNPY3	TK2	GMPPB	VCP	WASF1	RPGRIP1L	UBAP1	PIEZO2	MAN2B1	TMEM237	PIGG	MYH2	CRAT	SLC19A3	PGAP3	EIF4H	SNCA	NKX2-1	ARSI	TCTN2	DYRK1A	PTS	MT-TF	PIGO	DCPS	UNC80	PITRM1	PPP2R2B	SDHD	AP4E1	ARV1	SPART	THRA	COMP	PARK7	AMPD2	HADHA	MAGEL2	MMP13	TRAPPC11	KCNA1	STUB1	MCM3AP	FZR1	SYNJ1	SYNE1	BCORL1	GALT	DISP1	TRIO	LYRM7	GRM1	EIF2AK3	WDR11	XRCC1	P4HTM	IKBKG	PPM1D	SLC33A1	KATNIP	HACD1	GDAP2	GLRB	STIL	HPDL	SCN8A	TMEM43	SACS	IL10	SNRPN	DHH	COL9A2	PRDX3	NECAP1	C19orf12	EGR2	EMD	SETX	METTL27	TKFC	INPP5E	SYNGAP1	SATB1	ARMC9	TCTN3	AP4B1	NEFH	SLC17A5	POLR3B	SLC18A2	LRAT	SHMT2	NARS1	MTPAP	DNM1	GLUD2	FGF12	PEX1	SLC5A7	KRAS	DDX3X	SNX14	UQCRQ	PDGFB	OTUD6B	VPS13C	FRRS1L	VPS37A	CP	CHMP1A	SLC6A17	PDE8B	RNF170	MPZ	NOTCH2NLC	NCF1	MLH1	SBF1	PPP1R15B	ABCD1	TACO1	IFNGR1	FKTN	SAMD9L	FUS	KIDINS220	EIF2B1	TRAPPC6B	ARCN1	TFG	SNORD118	TMCO1	HACE1	CLN3	RUBCN	LITAF	CHKB	DNAJB6	SLC34A1	IFIH1	AP1S2	SMG8	ATP6AP2	MLXIPL	TIA1	ATP1A2	GBA1	HNRNPA1	HNRNPK	ERCC3	KCNA2	NEB	SCO2	ALG2	RNASEH2A	PRNP	TRPC3	ERLIN2	STRADA	LRP4	COLQ	SLC18A3	NDRG1	AASS	ZFYVE26	GLRA1	RYR1	ATP5F1D	MT-CO1	C4A	TOGARAM1	GNB4	FKRP	MAG	MAP3K20	GRID2	IL23R	PNPT1	CFAP43	CLCN4	HARS1	SCN1A	NUBPL	TAFAZZIN	CARS1	RRM2B	CAMK2A	GNE	EPCAM	GAN	WWOX	CERT1	CEP104	DPAGT1	DCAF8	KCNB1	COL10A1	OGDHL	GNPTAB	SCN2A	GALC	CHD3	LNPK	GRIK2	GJB1	TDGF1	LAMB2	JPH3	TUBB2B	ARL6IP1	RNF168	UBE4B	MT-TW	PIGW	SCN4A	HYCC1	MAST1	KCNN2	SQSTM1	NAA10	MATR3	SAMHD1	PPP2R5D	MFF	AIFM1	BEAN1	CYFIP2	TSPOAP1	POLG	RNASEH1	GALNS	SLC34A3	PTCH1	AP4S1	FAM149B1	JAG1	AFG3L2	BBS1	ACTN2	KIF1B	CHCHD2	IGHMBP2	FHL1	LCA5	SLC20A2	HSPD1	HTT	DEAF1	DAB1	CASZ1	CACNA2D1	KIAA0753	DNAJC3	IDH1	VPS41	CANT1	NKX6-2	EXTL3	PLOD1	KCNQ2	PRKN	MTM1	PLP1	DNA2	DDHD1	CACNA1B	PDHX	SLC25A15	GLB1	PLEKHG5	MT-TL1	CBY1	EIF2B3	SMO	MMP2	DMD	ATP13A2	CWF19L1	FLNC	REEP1	ACTL6B	CELF2	TAF1	LRRK2	KBTBD13	KPNA3	FOXH1	PMPCA	GRN	CHRNG	SLC6A8	LARGE1	NSUN2	YY1	VAMP2	HYLS1	SCYL1	PRDM16	FA2H	COL6A2	FNIP1	MAN1B1	TUBB4A	CAPN3	CEP41	COA8	CYP27B1	LRPPRC	ANO5	MME	ANOS1	MYPN	MT-TS2	CHCHD10	CC2D2A	ERCC6	MT-TQ	FOXRED1	NOL3	PDE2A	ATAD1	CDKL5	ATL3	SPTBN1	PTH1R	SLC38A3	ADH1C	NUDT2	DES	SYT14	MPV17	PRUNE1	LYST	TBC1D24	ISCU	CCDC88C	HLA-B	ALAD	ACAN	HERC2	KLHL9	WDR45B	SLC6A5	UROC1	HTRA2	DOHH	CRYAB	VPS13D	PSAP	MBTPS1	CHAT	MARS2	HEXB	WDR81	FXN	LPIN1	PNPLA2	SMN2	GIGYF2	MSH6	SELENON	PANK2	MT-TV	INF2	AARS1	MATN3	MMP23B	PLEKHG4	TRAK1	TCTN1	ELN	DNAJC6	ATL1	CDK8	EP300	PCNA	GGPS1	APTX	RIC1	MYOT	WASHC5	MARS1	PKP1	TPM3	MDH2	ERBB3	BMPR1A	KIF5A	SEMA4A	TBC1D2B	TGM6	DHTKD1	RNF125	ATP7B	SIL1	TLK2	SPTBN2	SMARCA2	NDUFA6	TREM2	ELOVL5	B4GALNT1	MYH3	SIGMAR1	CHRND	PROKR2	FBN1	TH	PNPO	POMGNT1	RSPRY1	ADAT3	C12orf4	RFC1	PRKCG	RFXAP	SPEN	TRIM32	MT-TT	AHI1	SLC26A2	SKI	KCNC3	AP3B2	ATP7A	MTRR	CNKSR2	MTOR	AGTPBP1	GDAP1	FAN1	PODXL	DKK1	PINK1	SNCAIP	COL12A1	VPS13A	GBA2	UBE4A	TECPR2	MIEF2	SEC31A	SHH	NEXMIF	RNU12	SPG21	GABBR2	GTPBP2	UBTF	NGLY1	MPLKIP	RAB11B	ZC4H2	LUZP1	GRIN1	VPS16	NEU1	EED	NAT8L	VWA3B	PYCR2	SLC1A4	PIK3CA	PEX6	POLG2	NEUROD2	FLVCR1	PACS2	TRPV4	MTR	ARL13B	TUBB3	GTF2I	GABRB2	GPAA1	TMEM251	NKX3-2	ATCAY	NTRK2	MYO9A	VAC14	EEF2	SLC2A1	ATXN8OS	MT-ND2	CERS1	GFPT1	TBP	RERE	COQ5	CACNA1I	IBA57	CAV1	TELO2	CDON	PIK3R5	LMX1B	DALRD3	DPM3	SUCLG1	MTFMT	AP4M1	HESX1	TARS1	HS6ST1	ERLIN1	IRF2BPL	GIPC1	PDHA1	POPDC3	ATXN10	ACTB	GABRG2	TMEM106B	PSMB1	USP7	HNRNPH2	TNR	MTRFR	MBOAT7	RPE65	GJA1	CYP27A1	REEP2	GRIN2D	NPC1	CACNA1A	GTF2IRD2	NRXN1	LIMK1	USP9X	WDR48	LMOD3	SIM1	TMEM270	SMPD1	MRPS34	WLS	FUZ	L1CAM	CLIC2	AIMP2	PRKRA	ALG14	UBA5	LRP5	UBAC2	COPB2	TGFB1	ORAI1	RAB39B	OGDH	SLC6A1	B9D1	FBP2	PIGL	ACBD5	PMS1	ZFTA	MTMR14	EEF1A2	LRP12	GRIA2	TGIF1	PDYN	SERAC1	MT-ND1	PIGY	OPA1	ASXL3	NODAL	LMNB2	TMEM240	NIPA1	VPS51	EPM2A	MFSD2A	SCN9A	WDR26	SLC25A46	LETM1	PUS3	ZEB2	XYLT2	DNAJC12	CCDC141	CFL2	CSPP1	SLC25A21	VPS33A	LARS2	AP2M1	CREBBP	GEMIN5	HK1	KIF1A	WNT3A	PRDM5	RPS6KA3	CPT1C	DUSP6	GLE1	TMEM218	STAG2	CLTC	MTHFR	DCTN1	NDUFAF6	BVES	HNRNPA2B1	EIF2B4	PRX	HLA-DQB1	ZNF526	NDNF	EBF3	ENTPD1	MCOLN1	SPRY4	EIF2S3	BCAS3	GOSR2	SLC30A9	SUFU	HPCA	FAT2	MRE11	PNPLA6	MAP1B	CTBP1	COL9A1	DYNC1H1	PGAP1	TMEM107	SATB2	STAC3	COA7	VPS35	DLAT	DHX16	ELOVL4	DHX30	CHD2	COASY	TSEN15	RANBP2	MYO1H	GOT2	FCSK	OPTN	SPAST	TWNK	LSM11	PREPL	GPT2	EIF2AK2	MAPK8IP3	TRMT10A	CCT5	DSTYK	BAZ1B	DARS2	CCDC28B	GTF2E2	MICU1	SDHAF1	CASK	FEZF1	ATP6V1A	SLC25A19	POLR3A	DNM1L	MARCHF6	SURF1	SLC13A5	FLNA	KLRC4	PDGFRB	ELP1	ATXN2	HNRNPH1	SYT2	COL6A1	SLC1A2	GARS1	WNT1	CIITA	GBE1	MGAT2	QRICH1	RAB18	PRKAR1B	CSF1R	XRCC4	TIMM8A	SEMA3A	FGF13	TBR1	TTBK2	SGCA	ADAM22	KMT2B	STAT4	MT-TH	DHDDS	PEX5	NDUFS8	FBXO38	MICOS13	RAB7A	ABCA2	CHD4	FTL	GTF2H5	ADCY5	SCARB2	BCL11B	CLN5	EXOSC5	ERAP1	BCL7B	PPP1R21	KY	ZFYVE27	DOCK3	AP5Z1	ATXN1	MT-TK	PPP3CA	CPLX1	OPHN1	NHLRC1	PAX7	FLRT3	VAPB	MSTO1	TMEM67	SLC12A5	ALPL	FAR1	CIZ1	COL9A3	RARS1	GAA	KIF1C	TERT	HSD17B10	NBEA	ATP1A1	TRAPPC2L	PRKCZ	SDHB	PNPLA8	TMEM222	B9D2	NOG	PPP2R1A	YARS1	KCND3	MEFV	RPL10	SLC35C1	DDHD2	BUD23	IFRD1	PEX10	POU3F4	RPS20	SNAP25	ACTA1	PGAP2	SELENOI	CAD	MEF2C	NPHP1	LONP1	FIG4	SLC9A1	CLDN11	PMS2	GCH1	HINT1	GAS1	SDHA	DYNC1I2	DHPS	TMEM216	RELA	PEX16	MLH3	MT-ND3	TCAP	SOX10	NTNG2	CAPN1	NT5C2	CLN8	TYROBP	SUCLA2	ZSWIM6	KCNA4	MT-CO3	SMS	TBCK	SMARCE1	FGF17	NACC1	VLDLR	CDK19	TLR4	FBXO28	LDB3	DPYD	ASXL1	TMEM231	ST3GAL3	TBC1D23	CACNA2D2	ERCC4	KAT6A	PDP1	KDM5B	PHIP	PRDM13	GFM2	FLRT1	PAK1	SLC30A10	FGD4	SPTLC1	BAP1	SHQ1	LTBP4	FARS2	ACOX1	UCHL1	PABPN1	NF2	KIF7	PDPN	DOK7	MTTP	LMNB1	IMPDH2	CLIP2	USP8	LRSAM1	PCDH15	KARS1	GYG1	LAMA2	CYP2R1	PDE6D	ZBTB20	NAA20	ASPA	GNB2	EPRS1	ERBB4	FKBP10	PTEN	EIF2B2	PACS1	TBC1D20	CDK10	MAPK10	CEP120	CHST3	EIF4G1	ACOX2	UFSP2	ADSS1	NOTCH3	SLC16A2	ATM	TRAF7	NTNG1	NTRK1	OCA2	CCN6	IL17RD	ERCC1	SET	RLIM	C9orf72	LAMP2	DNM2	ATXN3	COX6A1	POGZ	DNAJB2	KIAA0586	GABRA1	VARS1	SHANK3	VDR	PLD3	SMARCAL1	HSD17B4	SPTLC2	FN1	PLEC	RNU7-1	RHOBTB2	COL13A1	SYNE2	PIGV	PMP2	AR	ARG1	THG1L	PIBF1	ARID1B	IQSEC1	PSMC1	ADSL	APP	SLC39A13	GTF2IRD1	GNS	POC1A	NUP62	COL6A3	TRAPPC10	SBF2	OFD1	GRIN2A	IQSEC2	PCDH19	TBCD	SLC39A14	AKT1	SZT2	TREX1	RFC2	BRAT1	DDX6	TBL2	GEMIN4	PRRT2	B3GALNT2	ZNF469	ATP10A	CUX2	TACR3	KCNAB2	MED12	PARS2	RBM10	NUS1	STX1A	DNAJC30	FKBP14	PROK2	SLC12A6	CHD7	SRCAP	H4C5	DOCK7	SLC35A2	IL12A	ZFR	ARL6	TPI1	CLCN2	MMADHC	SLC7A6OS	ZMPSTE24	HERC1	INTS1	ARL3	ERCC2	TGFBR2	EMC1	CAMK2B	CCR1	MYF6	AGRN	MT-CO2	CA8	CTNNA2	SLC2A3	ATP5MC3	HADHB	COPB1	PIGP	ABHD16A	KCNJ10	MAB21L1	MED25	PIGS	GPHN	CYP7B1	NAXD	FAS	KMT2A
HP_CONFUSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONFUSION	POLR3A	MMACHC	NAGS	GNAS	ERCC5	NOTCH3	PSEN2	HMBS	SORL1	CUBN	IL10	SLC19A3	CCR1	SLC2A1	FIG4	PRNP	SLC25A15	ABCD1	TOMM40	ATP1A2	SLC22A5	HLA-B	CACNA1A	ALAD	TBP	IFNGR1	TLR4	ATP13A2	SLC25A13	C4A	ABCA7	CDKN1B	KLRC4	IL12A	CDKN1A	APP	STAT4	TBK1	ADAMTS13	PRRT2	EPM2A	TREM2	IL23R	MEN1	HLA-DQB1	DNMT1	ERCC2	NHLRC1	UQCRH	MEFV	PRDM8	PRDX1	CPOX	UBAC2	MAN2B1	TLR3	ERCC4	HADH	ERCC3	CHRNA2	PSEN1	CDKN2C	RYR1	MT-TE	CDKN2B	IL12A-AS1	ALDH4A1	FAS	ERAP1	SCN1A
HP_GENERALIZED_HYPOTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_HYPOTONIA	CEP290	FGF8	MN1	KCNMA1	CYP27B1	NEMF	TRNT1	PHF21A	BMP1	ACAD9	MTMR14	CUL4B	EEF1A2	POMT1	CPLANE1	HECW2	PDHA1	GABRG2	GABRA5	CPT2	SERAC1	EP300	CEP41	OXR1	TPM2	EHMT1	GNPTAB	AP3D1	NUS1	IFIH1	NDUFAF2	PEX14	CCDC115	VPS51	SLC25A4	SETD2	FBXW11	AGK	CHD1	HCFC1	WDR26	FMN2	KCNN3	ATP6V1E1	SLC25A46	PPT1	EIF2B5	NTRK2	PUS3	DNAJC12	B4GALT7	COL6A1	ARV1	DYRK1A	HADHA	PEX16	SKI	PMP22	RBM10	STAMBP	TAF1	POLG	NAGA	ZBTB18	RPGRIP1L	TBCE	TOPORS	ZEB2	CACNA1A	BCKDHA	COL6A2	PIGN	GLE1	ACADM	VIPAS39	FKRP	YWHAG	FDX2	NDUFA13	STAG2	SPEG	GLRX5	PGM3	PPP2R5D	APC	LONP1	SLC1A3	PEX13	VPS33B	MCCC1	NCAPG2	TRIM2	CHRNE	EIF2B4	CSPP1	PEX3	COG1	COL12A1	UBA5	BRPF1	HLCS	EBF3	TCTN2	ATP6V1A	EIF2S3	MPI	PEX2	MPC1	LARS1	EBP	MRE11	CTBP1	MMUT	GABRA2	CLCNKB	PPP1CB	CRPPA	REPS1	EXOSC3	DPM2	LETM1	NUP214	DHX16	TANGO2	SNORD115-1	PIGB	ARSA	PTDSS1	GABRB3	ADNP	TOR1A	GALNT2	SCN3A	HNRNPK	RNF13	SELENON	PLEKHG2	COX10	FARSB	UBE3B	DHFR	CBL	FASTKD2	KIAA0586	B3GALT6	COLQ	PRMT7	CLCNKA	SUFU	CYP24A1	PREPL	ATXN1	COQ8A	CTU2	VPS13B	TUBB2A	TNFRSF11A	HCN1	COG7	TK2	GNE	FBP1	TRAF7	RPS23	SLC52A2	WASF1	YIF1B	PIEZO2	MAN2B1	SDHAF1	MYH2	PEX10	EDN1	MMAB	KIF14	DBT	SPTAN1	SLC13A5	ROBO3	MMADHC	METTL5	DCPS	UNC80	BRAF	ZNF462	SLC7A7	PSAP	LRRC32	LAMA1	SDHD	SLC22A5	RNASEH2C	SPART	NFIA	KIF5A	PRDX1	CASR	LIAS	ATXN2	TRAPPC11	GLI2	FLCN	ASCC1	MED25	HNRNPU	FZR1	SYNJ1	SLC25A42	NKX2-1	SNRPN	SLC1A2	FKTN	LYRM7	COX15	PHIP	P4HTM	COL1A1	MGAT2	NDUFS7	MMACHC	SCN8A	MKRN3	ATCAY	NECAP1	MYMK	NANS	RYR1	PLG	FGF13	TBR1	SSR4	AMMECR1	WAC	ATP1A3	CNTNAP1	GABBR2	SYNGAP1	ADAM22	AIFM1	MAG	TCTN3	INPPL1	SLC18A3	SYNE1	UFM1	FGFRL1	DHDDS	KATNIP	COL1A2	NEB	AP2M1	CCDC47	SLC17A5	SIX3	MYOD1	SLC18A2	SPRED1	ZIC1	BCKDHB	OSTM1	SHOC2	NARS1	BCL11B	DNA2	ARX	GM2A	FGF12	DAG1	PEX1	GCDH	CLCN4	GTF2H5	UQCRQ	OTUD6B	GRIN2B	EXOSC5	HADH	FH	CHMP1A	GMPPB	TELO2	YME1L1	LMBRD1	IFT81	PMPCB	GCSH	ECHS1	GPHN	FOXH1	ABCC8	SFXN4	TRIP4	PNPLA2	BCOR	COX6A2	GTPBP3	RERE	SLC45A1	SMC1A	PIGV	EN1	PPP3CA	EIF2B1	ACY1	KDM1A	PIGH	ERF	TRPS1	SMARCC2	DLD	SLC46A1	OPHN1	HDAC8	PAX7	GABRB2	BMPER	AP1S2	MLXIPL	B9D1	RNU4ATAC	ATP1A2	DOCK6	GNB5	DDX11	BPTF	MARS2	HERC2	NEU1	MSTO1	SLC25A26	KIF1A	SUZ12	STRA6	SLC9A6	NDUFA11	TIMM50	SHH	KLHL41	STT3B	ADSL	ERCC3	KCNA2	GLDC	PTRH2	NOVA2	SGPL1	ALG2	ST3GAL5	POMGNT1	STT3A	OSGEP	DMPK	STRADA	BMPR1A	PTCHD1	GNAI3	ODC1	ACTN2	PPP2CA	DDOST	ADCY6	SDHB	MRPS22	COQ9	PNPLA8	CAMK2G	MTO1	HSD17B10	MYO18B	MAP3K20	AP3B2	DNM1	NDUFA10	PUF60	ALG9	ITPR1	SLC35C1	SMN1	DCHS1	CARS1	WWOX	CAD	SLC25A24	TMEM63A	DPAGT1	GRID2	KCNB1	PRNP	CLTC	ANK3	CHD3	LNPK	MKS1	GRIK2	RNF113A	MICOS13	SIX6	CHST14	LIFR	UQCC3	TGFB1	SDHA	TBC1D24	MT-TN	DYNC1I2	NDUFB3	NODAL	MAST1	TMEM216	SERPINH1	NAA10	DISP1	COL2A1	CD59	DDR2	USP9X	MAMLD1	EMC1	CYFIP2	TSPOAP1	IQSEC2	TECPR2	ATP6V0A2	SLC34A3	B3GAT3	PUM1	EFNB1	FAM149B1	SUCLA2	ELP1	LARGE1	USP18	TRMU	SMS	NONO	RPS6KA3	CSNK2B	ACADSB	SC5D	CNOT1	DLL1	SZT2	KAT6B	VLDLR	FBXL4	NSDHL	UGDH	KCNT1	MYL2	CUX1	GAN	CACNA2D1	KIAA0753	CDK19	PRF1	IDH1	WASHC5	TRMT10C	CANT1	NKX6-2	GNAO1	EXTL3	PIGK	NARS2	DIAPH1	PIGL	UBA1	COX6B1	SLC25A15	RRM2B	COQ7	ARL3	GLB1	SLC12A2	RSPRY1	ST3GAL3	GALE	SCO1	EIF2B3	TET3	TBC1D23	ISCA2	CACNA2D2	CEP120	KAT6A	GPX4	PDP1	SUOX	ALDH5A1	ACTL6B	POMT2	CD96	DPM1	PRDM13	PEX6	SGCE	MED12L	BIN1	ALG12	KBTBD13	GFPT1	SLC35A3	PMPCA	MTX2	MYH7	DST	KMT2C	PAK1	GFAP	POU3F3	CHAT	GMPPA	RMND1	QARS1	PACS1	C2CD3	ASXL3	POLG2	GTF2E2	LAGE3	RETREG1	KIF7	POLR3A	PEX12	CDC42	COA8	LRPPRC	FARSA	COL6A3	MYPN	MED13L	CLP1	SETD1A	MTM1	DEAF1	TUBB	KANSL1	ZC4H2	MT-TE	GAS1	CYP2R1	PDE6D	ACTA1	SLC9A7	CPLX1	KCNJ10	COL13A1	KMT2E	NAA20	SOX4	MCOLN1	MYO5A	PWRN1	SPTBN4	MLYCD	NDUFS3	MORC2	GNB2	PWAR1	NSD2	CNOT2	EIF2B2	TASP1	TBC1D20	INPP5E	CDK10	ELAC2	B4GALT1	ADARB1	ALAD	STIL	PIGT	AARS1	CCDC22	CPT1A	TRAK1	TGIF1	PHF6	CDK8	TMEM67	FUT8	PBX1	KDM6A	ACTB	HSPD1	USP7	MAGEL2	TUBA1A	HUWE1	SIL1	RLIM	TLK2	EZH2	NDUFA6	DNM2	ALDH18A1	AUTS2	FOXP1	CELF2	ZNHIT3	POGZ	ZIC2	KDM3B	AMER1	PET100	VARS1	DALRD3	PCBD1	NDUFA12	SHANK3	AMT	VDR	PNP	HIKESHI	C12orf4	ITCH	RPL10	CDKL5	SOX5	PRKCG	MCCC2	CACNA1B	FOXG1	PLCH1	TTN	RHOBTB2	FLNA	ACACA	MIPEP	SCN1B	SLC25A20	ELN	CLCN7	KCNC3	ETHE1	MTRR	PNPT1	CNKSR2	TDP2	IQSEC1	ARFGEF2	RORA	BSND	SMARCA4	NDUFAF5	CLCN6	MMAA	POC1A	TWNK	TMEM94	RAI1	BCS1L	ARL13B	CACNA1C	CDON	PRODH	MAPK1	ALPL	MRPS28	GLUL	RARS2	SLC2A10	MAPRE2	TMEM70	OFD1	SLC38A3	SLC25A10	PTCH1	NDUFAF4	DHCR7	FBXO11	EXT2	MPLKIP	RAB11B	TDGF1	UBR1	SARS2	KCNT2	ARHGAP31	GARS1	TH	NDUFB8	EED	NAT8L	PDHB	GABRB1	EFEMP2	MED12	FLVCR1	PACS2	MTR	UBE3A	PUS7	NEPRO	BLTP1	CEP104	PLA2G6	KCNH1	AGA	GPAA1	PARS2	CNTNAP2	PRKD1	PGAP2	KCNQ2	MOGS	NPHP1	KDM6B	TXN2	CSNK2A1	EXOSC9	NPAP1	GNPAT	HTRA2	CYP11B2	SNIP1	TSFM	OTX2	MITF	POMGNT2	ACAT2	SNORD116-1	ALG13	TSHB	DDX3X	ATIC	TMEM199	MTFMT	TOGARAM1	MANBA	TARS1	SOX2	NRAS	HACE1	TPI1	FLAD1	CHST3	BOLA3	DNM1L	RFT1	ATXN10	COG6	ATP6V1B2	GNB1	PTEN	NDUFV2	ATP5F1A	KIF22	HEPACAM	PIGG	MBOAT7	ERCC2	WNK1	NDUFS1	PIK3CA	SURF1	TANC2	TMEM237	MYF6	MVK	GRIN2D	GBE1	C19orf12	POLR2A	NPC1	CTNNA2	PEX5	TPM3	ALG1	SPTBN2	NRXN1	MSL3	LMOD3	PLCB4	FAT4	IARS1	KCNK9	RET	TRIT1	MTOR	SLC35A1	SCN9A	ALG14	COX4I1	SLC13A3	PIGS	COG4	MRPS14	BUB1B	ARID2	KMT2A
HP_ABNORMAL_CRANIAL_NERVE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CRANIAL_NERVE_MORPHOLOGY	KLHL40	TFG	SDHB	SMARCE1	FKRP	SEMA3E	VCP	CHRND	MTMR14	GJC2	POMT1	LRP12	VHL	OTX2	MYMX	MYL2	ACTA1	LRP4	SIX1	GAN	MEGF10	FKTN	MEOX1	MYMK	TK2	PEX13	PLEC	TPM2	MYPN	TTN	DNMT3A	COL13A1	GNAQ	LMOD3	SOST	NARS2	CDKN1B	RET	CNTNAP1	LRP5	TCIRG1	AGRN	DNA2	TUBB6	TP53	RRM2B	OSMR	SLC18A3	TGFB1	SH3TC2	PEX3	PLEKHM1	FH	BAG3	NEB	SMO	SMCHD1	PEX1	HLA-DRB1	SHMT2	PI4KA	TNFRSF11A	OSTM1	CLCN7	DKK1	CFL2	TWNK	MAX	SLC5A7	ASAH1	POMT2	UBA1	BMS1	AK9	PDGFB	POLG	SLC29A3	HOXB1	ANO5	CDKN2B	DNM2	COL6A2	UBA2	KY	HK1	BIN1	GMPPB	MUSK	KBTBD13	GFPT1	YME1L1	CRPPA	GJA1	LARGE1	EYA1	VAMP1	PEX5	NEFL	CHRNA1	GLE1	GDF6	SLC52A3	USP8	MYH7	LAMA2	FRG1	BAP1	ZC4H2	SPEG	AKT1	DCTN1	PEX16	RYR1	DES	COCH	HNRNPA2B1	HRAS	PEX6	POLG2	CHRNE	PABPN1	NF2	ZFHX4	NF1	PRRX1	PRRT2	ANKH	TRPV4	COL12A1	CA2	ABCA1	CAPN3	CHKB	KLHL41	DNAJB6	EGR2	CHD7	DOK7	MPZ	CDH23	SDHD	SUPT16H	CACNA1A	GDF3	USP48	BICRA	TFAP2A	SDHA	CDKN2C	GSN	MYO9A	KARS1	SPRED1	NOD2	COL6A3	SLC12A6	SLC25A4	PEX19	ADGRG1	TNFSF11	SRPX2	ADSS1	DLL4	SCO2	SIX5	SLC39A14	ALG2	SQSTM1	SPTBN4	DMPK	PEX2	ATP1A2	COLQ	PIK3CA	TRIM32	TERT	TMEM127	TOR1A	SMARCB1	MDH2	ADCY6	FGF3	CHRNB1	CRYAB	CHCHD10	SLC25A1	ITGB4	BRAF	CHAT	SDHC	SLC25A11	REV3L	EPAS1	SCN4A	NR3C1	SELENON	KIF1B	HNRNPA1	PTRH2	GNE	SNAP25	MTMR2	COL4A1	PLXND1	SGCD	DPAGT1	MTRFR	MTM1	BTNL2	SLC52A2	TPM3	XRCC2	LAMB2	PEX10	ATRX	TRAF7	SUFU	SNX10	SLC19A3	PRNP	PEX11B	SALL4	ADA2	TMEM53	PEX14	RAPSN	NFU1	CDKN1A	CRLF1	MEN1	TUBB3	ALG14	PUF60	SYT2	PTDSS1	SUCLA2	PEX12	SYNE1	PEX26	MGME1	AMER1	COL25A1	DLST	SDHAF2	SCN1A	COL6A1
HP_CRANIAL_NERVE_COMPRESSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRANIAL_NERVE_COMPRESSION	SDHB	VCP	TCIRG1	TNFSF11	ATRX	VHL	USP8	SNX10	ATP1A2	TMEM127	MDH2	DNMT3A	TMEM53	CDKN1B	HNRNPA2B1	RET	NFU1	CDKN1A	TP53	NF1	PRRT2	TGFB1	CA2	MEN1	SDHD	SH3TC2	PLEKHM1	FH	BRAF	SDHC	SLC25A11	EPAS1	NR3C1	CDH23	CLCN7	DKK1	KIF1B	HNRNPA1	MAX	CACNA1A	USP48	COL4A1	SDHA	CDKN2C	TNFRSF11A	CDKN2B	MTRFR	DLST	SDHAF2	SCN1A
HP_STROKE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STROKE	MT-ND4	NR3C1	TBX20	ALOX5AP	CBS	ABCC6	VPS37D	FOXE3	MT-CYB	MT-ND6	COL3A1	CITED2	TET2	CST3	DPM3	TGFB2	ERCC6	MT-TC	CPS1	METTL27	THPO	ELN	BRCC3	XYLT1	ACTA2	TP53	ADAMTS13	WFS1	MT-CO3	GLA	MT-TH	MT-TL1	MAT2A	APP	GDF2	GTF2IRD1	NPPA	FBN1	PMM2	ENG	SMAD4	SLC19A2	THSD1	XYLT2	MPL	JAG1	MYH11	JAK2	OTC	ACTG1	DPAGT1	ZAP70	FLNA	MT-CO1	ACVRL1	SCN5A	PLIN1	MMACHC	NAGS	BCL7B	ASS1	SLC2A10	MLXIPL	HSD11B2	TLL1	LOX	NCF1	KIF20A	F5	USP8	MT-TV	TGFBR1	ERCC8	MT-ND5	MTHFR	NKX2-5	FKBP6	MECP2	TGFBR3	ACTC1	ANGPTL6	RFT1	SNORD118	RFC2	CCM2	MT-TK	GUCY1A1	TBL2	CCND1	HEY2	SMAD2	SMARCAL1	GTF2I	LRPPRC	MT-TS2	MT-TW	CDH23	PIK3C2A	RNF213	MMUT	CLIP2	DYRK1B	LIG3	USP48	PNP	MT-TQ	GATA4	TGFBR2	LMNA	STX1A	ENPP1	MYPN	TNNI3	DNAJC30	GATA6	KRAS	TANGO2	PCNT	NOS3	COL4A1	MYLK	GNB2	TNNT2	ACTB	CALR	HTRA1	BRAF	COLGALT1	PRKCH	MT-TF	TREX1	FLNC	ZMPSTE24	BUD23	NOTCH3	GYS1	STIM1	BAZ1B	SNAP29	HBB	VHL	MYBPC3	TGFB3	AMACR	TNXB	PIGA	ATRX	MYH6	SON	MT-CO2	EIF4H	TPP2	B3GALT6	GTF2IRD2	PRNP	LIMK1	TTR	ADA2	MFAP5	MT-ND1	NF1	AGXT	TMEM270	GNAQ	PRKG1	MYD88	SH2B3	PDE11A	F2	PRKAR1A	ACAD9	FHOD3	NDUFA8	SMAD3
HP_ENCEPHALOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENCEPHALOPATHY	MT-ND4	CACNA1A	NDUFB10	SZT2	CACNA1E	FBXL4	ACAD9	EEF1A2	MT-ND6	DNM1	UGDH	KCNT1	GPT2	GABRG2	GABRA5	KCNQ5	SERAC1	CACNA2D1	CDK19	SLC25A20	ACADS	MT-ND1	MT-TC	KCNQ2	NDUFAF2	SUCLG1	CACNA1B	SLC25A15	ST3GAL3	MT-TL1	TRAK1	HMGCL	CPT2	NTRK2	CACNA2D2	COX16	ARV1	SLC25A1	ACTL6B	CELF2	NUBPL	RINT1	HNRNPR	SERPINI1	SYNGAP1	SCN1A	PCCB	GUF1	AP2M1	MT-CO1	TBCE	CARS2	GBA1	NDUFS7	KCNB1	YWHAG	AARS1	GALC	GABRA1	MT-ND5	NDUFA11	UGT1A1	XIAP	RNASEH2B	NDUFA1	MECP2	ACOX1	KCNA2	MT-TK	CHKA	UBA5	SMARCAL1	NDUFV2	MT-TS2	PCCA	MT-TW	ACY1	CLP1	GRIN1	MPC1	ASNS	GABRA2	MT-TQ	RANBP2	DPM2	RNF13	NDUFS4	SLC25A22	GLYCTK	SLC38A3	TRAPPC12	KMT2E	CHD2	FGF12	NDUFS3	GABRB3	NDUFV1	COQ2	SCN3A	CYFIP2	PNPT1	CLPB	TMEM126B	CLCNKB	FCSK	IBA57	HTRA1	PIGA	TBC1D24	MAPK10	TCF4	PSAP	TPK1	ATP5F1A	NDUFAF1	TK2	CPT1A	ALDH4A1	HCN1	NDUFS1	SCN8A	CNPY3	AMACR	SLC35A2	DGUOK	SCN2A	NOTCH3	ATAD3A	TIMM50	NADK2	PLCB1	FBLN1	ATP6V1A	PRNP	SLC19A3	KCNC2	SQOR	SLC22A5	NSF	SPTAN1	MDH2	NAPB	SLC13A5	SH2D1A	BSCL2	MT-TF	UNC80	WDR45	COQ4	NDUFS6	NDUFAF3	NDUFA6	RNASEH2C	TSEN54	LIAS	ZNHIT3	TWNK	NDUFAF4	HNRNPU	FZR1	SYNJ1	SLC1A2	GALT	PNPO	COG8	FADD	LYRM7	ETHE1	AMT	EIF2AK3	COX15	PCK1	PPP3CA	SLC12A3	CYC1	ITPA	MT-CYB	AFF3	CDKL5	NECAP1	SIK1	ATAD1	FGF13	SCN1B	ATP1A3	STAG1	MYRF	GABBR2	ADAM22	AP3B2	CNKSR2	MT-CO3	MT-TH	DHDDS	PHACTR1	LIPT2	PTPN23	HADH	GCDH	BCS1L	CLCN4	FRRS1L	GRIN2D	DPAGT1	GLUL	MMACHC	NAGS	GPR35	NEXMIF	TMEM70	PMPCB	GCSH	GRIN2A	GLS	GNAO1	MT-TV	SLC2A1	SLC6A9	TBCD	KCNT2	ATG7	TH	TREX1	CPLX1	GABRB1	NEUROD2	ARHGEF9	DLD	PACS2	SLC25A13	DOCK7	GABRB2	CUX2	WWOX	NDUFS8	CCDC88A	ATP1A2	NDUFB9	SLC25A12	PARS2	RYR1	NUS1	NDUFB3	TULP3	ALMS1	GLDC	NAXE	NDUFS2	COQ5	NDUFAF8	NDUFAF5	TSFM	DENND5A	STAT2	HSD17B10	ATP5F1D	COQ9	MT-ND3	TIMMDC1	DALRD3	FOXRED1	FOCAD	ALG9	BOLA3	DNM1L	CAD	MT-ND2	ARX	DPM1	MEF2C	CLTC	TUFM	GRIK2	MST1	STXBP1	KYNU	MT-CO2	GRIN2B	TGFB1	NRXN1	ZNFX1	TBCK	HIBCH	MDH1	SEMA4D	TRIT1	PIGP	SLC35A1	TSPOAP1	DCX	NDUFB11	SUCLA2	ACSF3	SLC6A1	NAXD	D2HGDH	NBAS	PAFAH1B1	MTHFR	ROGDI
HP_PARKINSONISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARKINSONISM	SLC20A2	VCP	EIF4G1	AFG3L2	FUS	SNCB	TBP	GRN	KIF5A	SNCA	C9orf72	C19orf12	SPG11	PRKAR1B	ATP13A2	VPS35	MT-TT	FMR1	SYNJ1	GBA1	PPP2R2B	PSEN1	MAPT	APP	TWNK	COQ2	HFE	TRPM7	SCN9A	UBTF	PLA2G6	SLC18A2	MECP2	PRKRA	DNAJC12	ATP7B	GLUD2	UQCRC1	FBXO7	PCBD1	FTL	WARS2	VPS13A	LRRK2	XPR1	PDGFB	SNCAIP	CP	NR4A2	PDGFRB	SLC30A10	PARK7	SPTLC1	TOMM40	PCDH19	PINK1	AP5Z1	SLC39A14	ATP6AP2	DCTN1	ATXN2	TH	CHCHD10	PRNP	IMPDH2	ATN1	MPO	SCN1B	ATXN8OS	POLG	UCHL1	PSEN2	EIF2AK2	ADH1C	CHMP2B	NOS3	GIGYF2	PSAP	HTRA2	ATP1A3	COASY	PANK2	DNAJC13	ABCA7	TARDBP	SQSTM1	SLC6A3	MYORG	TMEM106B	AOPEP	STUB1	SCN1A	TMEM240	GCH1	GABRG2	PTS	WDR45	TAF1	TNR	KCNN2	DNAJC6	SCN2A	JAM2	NOTCH3	PDE10A	PRKN	SORL1	JPH3	CYP27A1	TBK1	CLN3	ALS2	CSF1R	PLAU	CAT	DNAJC5	TREM2	LYST	TSPOAP1	ATXN3	TK2	SIGMAR1	VPS13C	RAB39B	GABRA1	APOE
HP_TORSION_DYSTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TORSION_DYSTONIA	TOR1A	ADAR	TAF1	HPCA	PRRT2	TUBB4A	THAP1	SLC2A1
HP_TONGUE_FASCICULATIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TONGUE_FASCICULATIONS	CHCHD10	EXOSC3	SMN1	EXOSC9	SLC52A2	SLC52A3	AGTPBP1	VRK1	PRUNE1	MEGF10	ATP1A2	NOP56	SH3TC2	TBCD	VCP	RMND1	EGR2	MPZ	ATP11A	SYT2	UBA1	AIFM1	EXOSC8	PRRT2	PRX	KCNK9	SPTLC1	NDUFS4	SLC25A46	LGI3	TSPYL1	OPTN	SMN2	PMP22	ADPRS	TOE1	ASAH1	CACNA1A	SLC25A21	VWA1	FXR1	SCN1A
HP_DYSMETRIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSMETRIA	WARS2	FXN	SPART	SLC20A2	VPS37D	AASS	VLDLR	GRM1	RFC1	FA2H	SACS	NF1	KIF1A	DAB1	SAMD9L	PDYN	OPA1	XRCC4	FMR1	MSTO1	METTL27	UCHL1	PPP2R2B	NDUFAF2	SYNE1	MAG	ANO10	ATN1	ITPR1	SLC25A46	GTF2IRD1	CACNA2D2	CWF19L1	SHMT2	PI4KA	CAMTA1	WDR81	PMM2	TPP1	PRKCG	MARS2	UROC1	ATP1A3	KCNC3	RARS1	PRDM13	HIBCH	CLN5	EXOSC5	GBA2	TOP3A	CTDP1	YME1L1	TECPR2	ELOVL1	BCL7B	MLXIPL	PMPCA	GFAP	PMPCB	SFXN4	NCF1	GTPBP2	RUSC2	POLR3B	ABCD1	PDGFB	TBP	ATXN1	NEU1	ATXN2	FKBP6	VWA3B	RFC2	POU4F1	BRAT1	LAGE3	TBL2	TTPA	DEGS1	TMEM106B	PIK3R5	TTC19	GTF2I	EBF3	TCTN2	ABHD12	GPAA1	MTTP	LMNB1	PEX2	CLIP2	LIG3	MRE11	NOP56	SPG7	GJB1	ATP1A2	STX1A	COA7	REPS1	DNAJC30	ADGRG1	NGLY1	PTRH2	SRPX2	ERMARD	KIF1C	COQ5	PLA2G6	CCDC88C	SCN8A	TIMMDC1	CAV1	POLR3A	TGM6	CACNA1G	PNPLA8	AFG3L2	ABCB7	AP5Z1	GRID2	MYORG	HTRA1	IRF2BPL	STUB1	B4GALNT1	ATXN10	SLC7A6OS	RRM2B	BUD23	IFRD1	GJC2	ATXN7	ATG5	TMEM63A	PRNP	BAZ1B	PLP1	ACOX2	ELN	SLC9A1	LNPK	WASHC5	CRAT	SLC25A15	SQSTM1	EIF4H	SPTBN2	GTF2IRD2	LIMK1	ATP6AP2	NFASC	CHP1	PEX16	CAPN1	TMEM270	PITRM1	TWNK	PDGFRB	POLG	PRICKLE1	RNASEH1	PUM1	SLC13A3	ADPRS	OGDH	CYP7B1	PLD3	SLC5A6	XRCC1	ACBD5
HP_ABNORMAL_NERVOUS_SYSTEM_ELECTROPHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NERVOUS_SYSTEM_ELECTROPHYSIOLOGY	CHCHD10	MT-ND4	DEPDC5	TFG	KCNMA1	CACNA1E	VCP	NLGN4X	APC2	SPATA5	HSPB1	EEF1A2	CDKL5	HECW2	SLC2A1	GABRA5	ST3GAL3	C9orf72	PURA	CACNB4	ALDH7A1	PIGY	NEFL	ABCA5	CAMK2A	AP3D1	ATP1A2	TBK1	EPM2A	SCN9A	SPTLC1	PEX10	SH3TC2	HCFC1	SLC39A8	SORD	SCN2A	YEATS2	PPT1	NTRK2	MECP2	BSCL2	ZEB2	ANKRD11	COX16	DOCK6	ATP7B	KCNQ3	UNC80	NDUFAF8	FDXR	SYNGAP1	MFSD8	GUF1	AP2M1	ARX	PRPS1	KRAS	CREBBP	PMP22	HK1	CACNA1A	CARS2	HSD17B4	NOTCH1	CPT1C	PRRT2	RUSC2	YWHAG	UPB1	GALC	CABP4	ERCC8	POMT2	SRPX2	PIGQ	FLII	AIMP1	PIK3CA	UBE3A	NMNAT1	GDAP1	TUBGCP2	TTPA	NPRL2	CHI3L1	PRX	EFHC1	ZNF526	ATN1	HTR2A	KIF1A	MCOLN1	RAI1	CEP126	ABHD12	GNB1	SMC1A	GOSR2	KCNJ11	GRIN1	ASNS	MAP1B	LARGE1	GABRA2	SIK1	SETD1B	SCN1B	DPM2	IGHMBP2	SOX10	LETM1	MT-ND5	DHX16	GPAA1	NGLY1	ATP7A	CUL4B	ERMARD	IREB2	LAGE3	KDM6A	GABRD	CHD2	FGF12	ARSA	GABRB3	ARFGEF1	IQSEC2	SCN3A	HID1	GRM7	DDB2	DRD3	OPA1	PAFAH1B1	ALG11	PNPT1	SYT1	RNF13	MFN2	ERCC2	HIC1	RRM2B	ALS2	MADD	SLC25A1	SEMA6B	RBPJ	TBC1D24	JRK	PLP1	GJC2	PHACTR1	ANTXR1	CNPY3	ATXN10	MTOR	MTMR2	IDUA	HSPB8	ATXN1	SCN8A	TUBB2A	PSEN1	ALDH4A1	HCN1	CCT5	SETBP1	SLC35A2	GMPPB	NRAS	PEX6	MPZ	WDR73	MOGS	POMT1	STRADA	TIMM50	PIGG	PEX16	ATP6V1A	MARCHF6	NSF	SPTAN1	SIGMAR1	CRH	FGF13	TBL1XR1	SCN1A	SLC13A5	PTS	MT-TF	PDSS2	GABRA1	PIGO	GRIN2A	NPRL3	RFC1	ARV1	MYD88	PEX1	TRAPPC11	SYT2	STUB1	FLCN	HNRNPU	FZR1	SYNJ1	REEP1	SATB1	SNRPN	SLC1A2	GARS1	FLVCR1	ERCC5	PNPO	P4HTM	STARD7	CHMP2B	ASPA	MED25	MATR3	WDR4	SACS	GRN	CILK1	DHH	NECAP1	CPLANE1	POLG	EGR2	TIMM8A	ATAD1	ERCC6	OTOF	SETX	SLC12A6	CTBP1	ATP1A3	GABBR2	PSAP	MT-TH	CDK5	FGFRL1	DHDDS	CLN8	CCDC47	WDR62	FBXO38	SLC25A22	RTN4R	GABRG2	PI4KA	RAB7A	LIPT2	AHDC1	DNM1	UQCRC1	GNAO1	ADK	ARG1	SLC5A7	SPTLC2	PRKAG2	PIDD1	GRIN2B	MAP2K2	GRIN2D	DPAGT1	CLN5	TICAM1	TPRKB	NOTCH2NLC	ABCC8	PEX19	MYH3	SBF1	FKTN	SCARB2	PPP3CA	CPLX1	ADGRV1	PEX13	LITAF	NECTIN1	PDK3	DNAJB6	NHLRC1	GABRB2	BRAT1	AP1S2	ALG13	SQSTM1	CCDC88A	CHRNA2	PEX11B	CLCN2	CNTN2	SLC9A6	KCNA2	NUP133	PLAA	ST3GAL5	KMT2D	POMGNT1	SLC18A3	NDRG1	NBEA	LMNA	MT-CO1	PRKCZ	BRAF	PEX12	SLC1A4	ABCD1	PNKP	NSRP1	AP3B2	NLGN3	YARS1	MED17	CLCN4	RPL10	ALG2	GNB5	ARHGEF9	FARS2	PDE2A	SNAP25	WWOX	PGAP2	NEXMIF	NUP188	PEX2	DCAF8	KCNB1	PRNP	CLTC	LONP1	PARS2	OGDHL	FIG4	GJB1	WDR45	STXBP1	FKRP	UBE4B	TGFB1	PEX26	PIGW	PIGA	HYCC1	HPDL	ANKRD17	DHPS	ATP11A	AIFM1	FRRS1L	EXOC8	NLRP3	MDH1	MFF	SAMD12	CYFIP2	PLCB1	NTNG2	NEUROD2	CEP85L	TREM2	GAD1	MAP2K1	TYROBP	KIF1B	MT-CO3	GLUD1	SYN2	D2HGDH	TBCK	CPA6	ATL1	ROGDI	MT-ND1	EOGT	NDUFA9	SZT2	IARS2	AASS	DEAF1	UGDH	SAMD9L	CASZ1	CACNA2D1	CDK19	FBXO28	DPYD	KCNQ2	MORC2	STX1B	PEX5	PHGDH	MAPT	TRIM8	HSPG2	PLEKHG5	MT-TL1	HMGCL	FBN1	TET3	ERCC4	NALCN	TLR3	ALG3	SUOX	ALDH5A1	ACTL6B	CELF2	DPM1	GFM2	NARS2	DAOA	NDP	LGI1	FGD4	KCTD7	VAMP2	TRAPPC12	CNKSR2	PRDM16	DMXL2	CYP27A1	XPC	RETREG1	DEGS1	JPH1	MT-ND6	NEU1	PDPN	FOXP1	CTNND2	LRPPRC	MT-TS2	LMNB1	ATP6V1B2	LRSAM1	CTDP1	KARS1	ZNHIT3	MT-TQ	NUP107	DAG1	LAMA2	ZNF148	SLC6A19	MYH14	ATL3	SPTBN1	ADRA2B	NACC1	SPTBN4	MPV17	PRUNE1	LYST	CACNA1H	GNB2	AARS1	TYMP	DIAPH3	NSD2	ARHGEF2	POGZ	OSGEP	EPG5	ATP6V0A1	TBC1D20	CHAT	SMS	ARHGAP31	LIG3	MAPK10	KCNT1	FXN	MTRFR	TRAF3	PTRH2	ADARB1	PIGT	MGAT2	MMP23B	TRAK1	ARHGEF10	RMRP	ERCC1	PHF6	CLN6	EP300	LSS	COQ2	NTNG1	CASK	KCNC2	NTRK1	LARS2	OCA2	PEX14	HRAS	NFASC	TBC1D2B	OCRL	PIGP	PLPBP	PAX6	RELN	MPDU1	UNC93B1	VARS1	PLA2G6	PCK1	SUCLA2	EDNRB	GLYCTK	EIF2S3	TPI1	PEX3	SLC44A1	TPP1	CHRNA4	FBLN5	CACNA1B	FOXG1	PLCH1	DNM2	COL13A1	SPEN	PIGV	PMP2	DLL4	SKI	VARS2	RTTN	ARFGEF2	SUMF1	GRIA3	AKT3	AARS2	CLCN6	PTPN23	BCS1L	PRODH	CLTRN	ERCC3	VPS13A	SBF2	PSAT1	CHRNB2	SPG21	CNTNAP2	SLC38A3	SLC25A10	VAMP1	UBTF	PCDH19	LUZP1	KCNT2	TRPV4	GABRB1	PPFIBP1	B3GALNT2	DOCK7	ACOX1	ATP10A	CUX2	KCNH1	AHSG	DOLK	KCNAB2	TFE3	MYO9A	NUS1	MAF	LTBP3	KCNA1	MTHFR	KPTN	DNAJC3	ADGRG1	CERS1	RERE	CSTB	IER3IP1	SNIP1	DENND5A	LAMC3	DALRD3	XPA	ITGB6	TMEM106B	PDHA1	ALG14	RIPOR2	COMT	PRICKLE1	AFG3L2	SNAP29	APOL4	WNK1	EMC1	TP53RK	APOL2	NF1	CADM3	AGRN	KANSL1	MT-CO2	SLC25A15	SLC25A46	CTNNA2	ALG1	PGAP3	MED13L	HIBCH	YWHAE	EMILIN1	TRIT1	AIMP2	DCX	COX4I1	UBA5	PIGS	EBP	CUL3	CLTCL1	SHQ1	ASL	GRIA1	MT-TW	SLC6A1	NAXD	PIGL
HP_GIANT_SOMATOSENSORY_EVOKED_POTENTIALS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GIANT_SOMATOSENSORY_EVOKED_POTENTIALS	EPM2A	MARCHF6	NHLRC1	SAMD12	SEMA6B	STARD7
HP_REDUCED_TENDON_REFLEXES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_TENDON_REFLEXES	CHCHD10	TFG	POU1F1	MTMR14	HSPB1	EEF1A2	LRP12	MFN2	PDSS1	GABRA5	GBF1	MT-ND1	PIGY	NEFL	TPM2	GNPTAB	RYR1	FMR1	FKRP	SLC25A4	SPTLC1	DNMT1	SH3TC2	FHL1	MORC2	CNBP	SLC25A46	KLC2	DBH	NTRK2	DYSF	DHH	CFL2	PMP22	TINF2	DAG1	UBA1	SLC25A21	VPS33A	POLG	TWNK	PRPS1	KRAS	MUSK	GEMIN5	TPO	CPT1A	POMT1	HK1	REEP1	ERCC5	CACNA1A	EXOSC9	PIGN	GLE1	YWHAG	FDX2	AARS1	GALC	ERGIC1	ERCC8	LMNA	SPEG	PGM3	PPP2R5D	GNAS	MYL2	C9orf72	FLII	MGME1	WARS1	TRIM2	GDAP1	MT-ND6	LARGE1	ABHD5	AIFM1	HSPG2	TTPA	MT-ATP6	PEX3	DMD	PRX	COL12A1	LHX3	PIK3R5	KLHL41	ENTPD1	COL4A1	RAI1	TDP1	ABHD12	GOSR2	PRDM13	PEX2	POMGNT2	MRE11	PNPLA6	BICD2	DYNC1H1	SCYL2	GABRA2	PEX6	CLCNKB	CRPPA	STAC3	COA7	SLC1A3	IGHMBP2	SOX10	SMN1	LAMA2	DHX16	PIGB	OPA3	NGLY1	MYH7	ELOVL4	DNAJC6	DHX30	AGTPBP1	ARSA	TOR1A	TBK1	SCN3A	TSEN15	HDAC4	DDB2	PNPT1	MYO1H	MARS1	ERCC2	FLI1	FASTKD2	SLC25A1	KCNJ18	KIAA0586	GMPPB	TMEM240	HSPB3	FLNC	CLCNKA	SELENON	HSPB8	ATXN1	MT-TE	ALDH4A1	HCN1	COG7	SQSTM1	BIN1	PDK3	DARS2	PARN	CNTNAP1	ALDH18A1	NRAS	SLC52A2	MPZ	PIEZO2	PIGG	PEX16	SLC25A19	DNM1L	ARSI	SIGMAR1	SURF1	CHRND	ATP6V1A	NAGLU	SLC13A5	ERCC6	ITGA7	PIGO	RFC1	ARV1	HADHA	DUOX2	ELP1	ATXN2	SYT2	ACD	MCM3AP	ASCC1	FZR1	SYNJ1	SYNE1	PTF1A	FKTN	SIM1	FLVCR1	XRCC1	GBE1	FXR1	DNASE1L3	HACD1	MED25	SCN8A	TMEM43	SACS	TSHB	CARS2	QRICH1	MEGF10	NECAP1	C19orf12	EGR2	EMD	FGF13	OCRL	SLC12A6	ATP1A3	COASY	MT-ND5	SYNGAP1	TSHR	PITX3	AGRN	MAG	PSAP	NEFH	NDUFS4	CDK5	DHDDS	PEX5	NEB	PRDM12	FBXO38	POLR3B	RAB7A	WDR81	NARS1	MTPAP	FGF12	PEX1	SLC5A7	SPTLC2	PMM2	SNX14	GTF2H5	GRIA3	JAG1	RETREG1	DPAGT1	EXOSC8	RNF170	VANGL1	SETX	PPP1R21	GCSH	NOTCH2NLC	PEX19	DOCK3	PNPLA2	SBF1	DNM2	PPP3CA	CRYAB	TMCO1	PEX13	RUBCN	LITAF	PAX7	GABRB2	ATP6AP2	ATP1A2	TAOK1	VAPB	MSTO1	KIF1A	TIMM50	GBA1	PNKP	HNRNPK	TBC1D24	ERCC3	KCNA2	GLDC	PTRH2	GAA	SCO2	ALG2	ST3GAL5	SNRPN	PEX11B	LRP4	COLQ	SLC18A3	NDRG1	RILPL1	ACER3	ATP1A1	ADCY6	PEX12	GNB4	TARDBP	ABCA1	CHRNB1	B3GALNT2	AP3B2	YARS1	KCND3	HARS1	B4GALNT1	CARS1	RRM2B	IFRD1	PEX10	MT-ATP8	GNE	GAN	SNAP25	WWOX	ACTA1	PGAP2	GFER	MT-TK	SNAP29	PYROXD1	DCAF8	KCNB1	CLTC	FIG4	GJB1	MYOT	RNF113A	HESX1	LAMB2	LIFR	TPM3	LGI4	HINT1	MT-TW	TYMP	PIGW	ERCC1	APOB	ATP11A	TTR	TBCK	MT-ND3	CD59	TCAP	CHRNE	EMC1	BEAN1	CYFIP2	RNASEH1	TECPR2	TK2	TRIM37	SUCLA2	ACAT1	PEX26	KIF1B	ZSWIM6	STIM1	NDUFA9	SZT2	IARS2	DEAF1	DNM1	UGDH	SAR1B	FBN1	CACNA2D1	CDK19	DNAJC3	FBXO28	LDB3	EXTL3	DPYD	PLOD1	NARS2	SUCLG1	MAGEL2	TRIM8	ATN1	PLEKHG5	PDHB	LGI3	HMGCL	TBC1D23	TUBA8	ALG6	POMK	RTEL1	ALDH5A1	ACTL6B	TAF1	POMT2	VCP	KBTBD13	FLRT1	PMPCA	VAMP1	ERLIN1	DST	IYD	FGD4	XK	SCYL1	RMND1	ACOX1	ARL6IP1	DUOXA2	XPC	GTF2E2	JPH1	PRNP	GRIN2A	HNRNPDL	OTOG	PHYH	MME	INPP5K	MYPN	MTTP	ATP6V1B2	LRSAM1	ZC4H2	FBLN5	PLP1	VWA1	KARS1	RXYLT1	MYH14	MT-TL1	MYL1	ADSS1	OPA1	DES	SPTBN4	MPV17	LYST	ISCU	TG	KLHL9	ATL3	ARHGEF2	CLPB	FKBP10	MYORG	CHAT	FXN	LPIN1	SMN2	MT-TV	INF2	PPOX	PLEKHG4	TRAK1	RMRP	MTM1	FUZ	B4GAT1	ATM	APTX	SIL1	DGUOK	MDH2	ERBB3	HRAS	LRRK1	NFASC	COL25A1	DHTKD1	EXOSC1	COL13A1	COX8A	PDXK	AMPD1	ATXN3	CELF2	COX6A1	DNAJB2	CHRNA1	SHANK3	AMT	SLC5A6	TRMU	HSD17B4	SPG11	MAP3K20	FUS	VRK1	PRKCG	CACNA1B	DPM3	PLEC	TTN	MT-CO3	TRIP4	SYNE2	PIGV	PMP2	AR	STX16	ATP7A	TRPV4	CNKSR2	ACO2	PSMC1	BAG3	PODXL	BSND	AARS2	DKK1	ASAH1	VPS13A	AK9	HEXB	KY	ACADM	SBF2	CNTNAP2	SLC38A3	PSMB8	IQSEC2	IBA57	MPLKIP	TBCD	GARS1	DKC1	MT-TT	GEMIN4	POMGNT1	MT-ND4	CNTN1	PLA2G6	DOK7	PROP1	PARS2	NDUFA1	MYO9A	TRAPPC11	PRORP	MT-ND2	GFPT1	LHX4	SNIP1	TRIM32	TRMT5	DALRD3	EXOSC3	XPA	TARS1	PEX7	TPI1	TERT	CACNA1S	GIPC1	SCN4A	ATXN10	SLC5A5	GABRG2	MTRFR	RAB3GAP2	WNK1	ERCC4	PEX14	MYF6	CADM3	GRIN2D	ALG1	PGAP3	LMOD3	ANXA11	RAPSN	HADHB	SMPD1	KCNK9	GABBR2	SLC35A1	SCN9A	POLG2	ALG14	UBA5	NUS1	SLC1A2	ORAI1	SEPTIN9	TSPYL1	MT-CO1	PIGL	GABRA3
HP_NEONATAL_HYPOTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_HYPOTONIA	EIF5A	PRPS1	PCLO	SH2B1	FKRP	ODC1	CASK	RPL10	CHRND	GLYCTK	SPATA5	CDKL5	POMT1	PRDM5	ATP2B3	MKRN3	ACTA1	MEGF10	FKTN	PURA	FOXG1	GNPTAB	PLOD1	OCRL	RYR1	MTM1	ERCC6L2	PGAP1	SYNE1	SUCLG1	AP4B1	PDHX	MAGEL2	PEX26	VMA21	BCS1L	CHRNB1	TIMM22	SUMF1	TPM2	EEF1A2	TUBA8	CPT2	SCN4A	WAC	CAMTA1	MED12	RTL1	NALCN	KAT6A	PEX16	SPOP	CFL2	HADH	UNC80	DLAT	GABRA2	HNF1A	PHIP	PEX6	COL6A2	STAG1	CRPPA	HSD17B4	PLCB3	SLC6A8	GABBR2	DST	COL12A1	GLS	PSMD12	LAMA2	UPB1	EARS2	GDAP1	DLK1	KNSTRN	PPP2R5D	PIK3CD	GATA6	FGFR1	MRPS16	CHRNE	NADK2	MT-TT	TMCO1	TGFB3	PEX3	ZNF469	CHKB	EGR2	CNTN1	LYRM4	CCDC88A	MUSK	FLNA	SMC1A	PDE4D	POU4F1	GRIA4	PEX2	HERC2	PEX1	POMK	MECP2	FXR1	ZNF148	H1-4	COL6A3	NPAP1	IGHMBP2	SOX10	MEG3	PRKAR1B	FKBP14	SLC12A6	SNORD115-1	NEB	SLC16A2	SNRPN	IER3IP1	VPS53	FIG4	TNNT1	PWRN1	SPTBN4	TSFM	COA6	BRAF	AP4E1	SNORD116-1	PWAR1	WDR19	TAF6	CLPB	POMT2	SYT1	CHRNA1	MAG	MADD	GOT2	PEX12	PDSS2	COG4	TBC1D24	RAPSN	MYT1L	PTRH2	UQCC2	PEX10	ATXN7	USP7	KLHL41	PYROXD1	VPS13B	CCDC174	MT-TE	VAC14	BIN1	BPTF	TUFM	CWC27	TPM3	SON	GATAD2B	NSD1	PIEZO2	COL6A1	DMPK	NTNG1	KANSL1	SLC25A46	SHANK3	B3GALT6	RBL2	NDN	LMOD3	HNF4A	SIM1	AP4M1	COQ4	COPB1	KCNK9	SDHA	ARID1B	ALG11	MYH7	TBR1	NEXMIF	ARX	PDP1	LARGE1	ACOX1	SLC25A22	ADNP	NONO	NFIX	DNAJC19	TBCK	SELENON	PAFAH1B1	MTHFR	TMEM260
HP_CEREBELLAR_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBELLAR_HYPOPLASIA	AMPD2	PIGN	TSEN2	PCLO	SEMA3E	VLDLR	TMCO1	CPLANE1	RPGRIP1	GPC4	HYLS1	CPT2	FKTN	B9D2	KIAA0753	ZIC1	B3GALNT2	OXR1	BMP4	SMARCB1	ASXL3	DYNC2I1	WASHC5	B4GAT1	SMARCE1	SETD2	FAR1	FKRP	PGAP1	WDR35	FLVCR2	DPYSL5	ASXL1	ATP6V1A	PLG	VPS51	RNF113A	ARL3	ACD	DPM2	MFSD2A	PDHB	GLI3	CBY1	FOXC1	SMARCA4	PSAT1	ATP2B3	LETM1	ZIC3	TAPT1	TMEM67	MBTPS2	ZEB2	CWF19L1	WAC	CAMTA1	GRM1	GPX4	POMK	TMEM237	SLC25A1	SUOX	RTEL1	RBM10	CSPP1	TINF2	TMEM138	TAF1	HNRNPR	DAG1	EXOC7	POMT2	FDXR	NFIX	ARID1B	TCTN1	PRDM13	MUSK	TUBA1A	ADGRG1	KRAS	CEP290	GFM2	POLR3A	ASPM	POMT1	DYNC2H1	TOPORS	PMPCA	VPS4A	KMT2C	LARGE1	TRIP13	DPH1	EOMES	WARS2	KIDINS220	TMEM218	ATP6V0A2	TSEN54	INTS8	MACF1	PACS1	MKS1	SRD5A3	GMPPB	C2CD3	SLC1A3	NPHP3	CC2D2A	KIF7	MAN1B1	KIAA0586	NCAPG2	UFSP2	DPH5	POMGNT1	APC2	ARID1A	COG1	CEP41	CDC42	TMTC3	ATN1	GPSM2	EBF3	COL4A1	INPP5K	TCTN2	ATR	POU4F1	SUFU	ATP6V1B2	WDR81	POMGNT2	MINPP1	COASY	TERT	ASNS	EBP	EVC2	MRE11	FIG4	PRKDC	ZNF335	TUBB	TUBB2B	RELN	TRRAP	CEP120	SMARCD1	MID1	RXYLT1	PPP1CB	CRPPA	ZBTB11	FTO	PDE6D	NRAS	L1CAM	ERF	PCGF2	BUB3	GPAA1	RERE	SRPX2	ERMARD	FANCB	TMEM216	RTTN	CHD7	TSEN15	TCTN3	CDKN1C	ARHGEF2	FRMD4A	ALG12	MAP2K2	OFD1	PTEN	EPG5	ATP6V0A1	DHFR	THOC2	EXOC2	GOT2	RAC1	INPP5E	NSD1	SEMA6B	ZNF423	MARS2	CENPF	GPC3	ERCC5	CCDC32	TSEN34	CENPE	PTRH2	TOE1	B4GALT1	PI4KA	ATP5F1A	TNPO2	PIGT	CCDC22	VPS13B	MAPK8IP3	TRMT10A	VAC14	NDE1	MTM1	PARN	ERCC1	LAMB1	SLC35A2	DOK7	ATAD3A	KNL1	RPGRIP1L	CASK	PIGG	DCHS1	SON	SIL1	WDR26	STAG2	KIF14	ALX4	ARSI	HRAS	DISC1	ROBO3	EXOSC1	SOX11	LRRC32	LAMA1	AHI1	EXOSC8	COQ4	EZH2	NDUFA6	BRF1	RAB3GAP1	NONO	ATXN2	TRAPPC9	HNRNPH1	STUB1	EHMT1	PTF1A	KCNQ1OT1	BUB1	VPS35L	ERCC6	KATNIP	TP53RK	CPSF3	RPL10	CLCN3	SACS	PAFAH1B1	CARS2	AFF3	ATCAY	HDAC6	TXNDC15	MYOD1	CSF1R	PLCH1	TMEM107	RHOBTB2	PPIL1	CEP164	TKFC	RAB18	MBD5	DMXL2	ELN	SMG9	THG1L	PIBF1	ARMC9	VARS2	CDK5	RORA	GJB2	OCLN	BUB1B	TMEM231	PMM2	IFT80	SMPD4	FANCL	GRIA3	BICD2	DPAGT1	FLNA	TBC1D20	CHMP1A	FAT4	YME1L1	RARS2	FGFR2	PPP1R21	GPHN	MAPKAPK5	GTPBP2	SLC25A19	NUP88	DHCR7	RAB3GAP2	PPP1R15B	RAB11B	TUBB3	ATG7	AHCY	DKC1	GEMIN4	PPFIBP1	ARL13B	IGF2	OPHN1	WDR73	ALG3	BLTP1	IFT172	CEP104	SNX14	DYNC2I2	MLXIPL	B9D1	DOCK6	SMARCC2	MSTO1	PHGDH	FGFR1	NPHP1	CEP55	MPL	TERC	ALG6	CIT	KCNQ1	HHAT	EVC	STAT2	TBC1D24	ZNF292	CDC42BPB	CEP57	ATP6V1E1	DYNC1H1	IER3IP1	DENND5A	MYO5A	VRK1	CACNA1G	TOGARAM1	NUP37	PPP2R1A	SOX4	NSRP1	RBM8A	H3-3A	MAN2C1	ITPR1	AP1S2	CDC40	HERC1	NEK1	SASS6	INTS1	ATG5	SLC25A24	PIEZO2	AFG3L2	HNRNPH2	TWIST1	SIX3	GJB6	ARID2	ABAT	MICOS13	BCOR	SLC25A46	CTNNA2	PIGA	USP9X	DHX37	RBBP8	MAST1	SYT2	TBCK	DPF2	SLC18A3	RPE65	COL3A1	PIGU	MDH1	WLS	JAM3	ESCO2	MAB21L1	OTUD5	RNU4ATAC	RAPSN	FAM149B1	SHQ1	USP18	PLP1	WNT1	NODAL	SEPSECS	TUBGCP6	ROGDI
HP_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_WEAKNESS	MT-ND4	CACNA1S	ADCY5	PI4KA	HSPB1	NEFH	MFN2	GABRA5	GBF1	CHRNA1	TERT	GPI	NEFL	SPG11	TPM2	RTN2	ALDH18A1	RYR1	LMOD3	SGCG	AP3D1	FKRP	DGUOK	BRCC3	CLCNKA	SIX1	SLC25A4	VMA21	SH3TC2	ASAH1	MORC2	SLC39A8	KCNJ5	SORD	CNBP	BSCL2	DYSF	COL6A1	UBA1	COL6A2	SGCD	PRPS1	JAG2	TOP3A	POMT1	REEP1	EXOSC9	PGK1	HLA-DQB1	LRP4	RUSC2	USP8	WARS2	YWHAG	FDX2	PMP22	NDUFA13	MYL2	NDUFA1	MGME1	SLC12A1	TRIM2	MT-ND6	ABHD5	CHRNE	HSPG2	POMGNT1	CCND1	NAGA	MT-ATP6	PYGM	PIK3R5	DYM	KLHL41	TTN	DDHD2	SMARCAL1	CHD7	CYP7B1	CDC73	GNB1	POMGNT2	USP48	BICD2	GABRA2	GNA11	CRPPA	EXOSC3	SOX10	SMN1	MT-ND5	TANGO2	SCNN1B	MYH7	ATP7A	TTPA	TOR1A	TSHR	SMARCB1	SCN3A	COX20	FUCA1	ARSA	LMNA	INPP5K	SOST	ITGA7	SGCB	SLC25A1	KCNJ18	SURF1	RAPSN	CDKL5	HSPB3	DAG1	SPEG	NR4A2	SQSTM1	SELENON	MTMR2	HSPB8	ATXN1	PLXND1	HEXB	MT-TE	HCN1	PON1	NDUFS1	POLR3GL	BIN1	TK2	BTNL2	LZTR1	VCP	CCNF	UBAP1	DARS2	PIEZO2	KCNJ11	MYH2	ETFDH	BSND	SLC19A3	CPOX	PEX11B	SNX10	HAMP	PTS	MT-TF	AGRN	SLC34A1	ALS2	FLNC	SLC7A7	COQ4	ANK1	NDUFAF3	SDHD	MRPS2	ARV1	SPART	HADHA	CASQ1	TRAPPC11	NUMA1	MCM3AP	PDCD1	PEX12	FZR1	SYNJ1	SYNE1	FKTN	ACAD9	LYRM7	EIF2AK3	WDR11	XRCC1	FXR1	PNKP	SLC33A1	TRDN	NEK1	HACD1	SCN8A	POLRMT	TMEM43	SACS	ZNRF3	CLCNKB	DHH	COL9A2	PFKM	TNXB	MEGF10	NECAP1	UNC13A	C19orf12	MYMK	EGR2	EMD	SETX	SYNE2	RRAS2	ATP1A3	CNTNAP1	SYNGAP1	AIFM1	TUBB6	NDUFS4	COL1A2	SLC25A22	SLC18A2	SHMT2	GCK	FGF12	GNAO1	ADK	SLC5A7	SPTLC2	GLE1	LEMD2	BMS1	GRIA3	PDGFB	SLC4A1	PRKAR1A	GMPPB	YME1L1	NF1	MPZ	NOTCH2NLC	ABCC8	DYNC1H1	MYH3	SLC52A3	SBF1	PPP1R15B	DNM2	NOP56	COX6A2	CCDC78	FUS	ARX	SCN4A	TRAPPC6B	ACY1	TFG	AHCY	SPP1	KRAS	LITAF	POMT2	CHKB	TTC19	DNAJB6	TNPO3	RASA1	IFIH1	ERCC6	RARA	MUSK	NDUFB9	TIA1	TOE1	POLG	PIGN	POMK	AGL	KIF1A	TIMM50	NDUFB3	HNRNPA1	HNRNPK	SCN1B	PEX19	KCNA2	NEB	LRP5	PTRH2	HMBS	NDUFS2	SCO2	ALG2	NDUFAF5	NABP1	DMPK	ERLIN2	PEX2	COLQ	SLC18A3	NDRG1	ZFYVE26	CHRND	ATP5F1D	MT-CO1	ADCY6	MT-ND3	ABCD1	ELP2	TARDBP	CHRNB1	MAP3K20	NDUFA10	MT-TL2	MRPL12	HARS1	MT-TP	GNB5	HLA-B	UBQLN2	SECISBP2	TAFAZZIN	TRMT1	RRM2B	ASPA	GNE	GAN	WWOX	AP2S1	UFC1	STIM1	DPAGT1	DCAF8	KCNB1	GALC	MYOT	LAMB2	TPM3	TBK1	TBCE	MT-TW	TYMP	PRPH	HYCC1	SARS1	CASK	FXYD2	ACADVL	TTR	MATR3	ALAS2	MFF	CYFIP2	EHHADH	PDE11A	RNASEH1	SLC34A3	CHST14	JAG1	ADPRS	C9orf72	ACTN2	KIF1B	LRIF1	LARGE1	GNAS	UNC45B	TBL1XR1	IGHMBP2	IRF2BP2	FHL1	NDUFB10	HSPD1	NKX2-1	DNM1	IDS	ACTA1	FBN1	CACNA2D1	ATXN2	EXTL3	COQ8A	PLOD1	MTM1	IFT140	PLP1	DNA2	DDHD1	COQ7	STAT5B	PLEKHG5	MT-TL1	FAM111B	SMO	PEX1	DMD	ACTL6B	CELF2	RIT1	NUBPL	MT-TN	KBTBD13	GFPT1	KPNA3	NARS2	NDUFS7	NDP	SCYL1	LDB3	POLR3A	CAPN3	ETFB	COA8	HNRNPDL	CYP27B1	LRPPRC	ANO5	ANOS1	MYPN	CDH23	MT-TS2	CHCHD10	BCOR	ZC4H2	PLEC	PTEN	MT-TQ	MYH14	COL6A3	ATL3	MYL1	BMP6	GDAP1	ADSS1	DLL4	COL13A1	SLC16A2	DES	GARS1	TNNT1	SPTBN4	MPV17	LYST	NDUFV1	ISCU	COQ2	ALAD	PDE8B	ERCC8	KLHL9	GRIN1	CYP11B2	COL9A3	SERPING1	CRYAB	TMEM126B	VPS13D	PSAP	ITGB4	CHAT	LIG3	LPIN1	PNPLA2	SMN2	MTRFR	PTPN22	MT-TV	INF2	AARS1	NDUFAF1	PPOX	TRAK1	SVIL	ATL1	B4GAT1	GGPS1	IRAK1	ATRX	APTX	POGLUT1	WASHC5	MARS1	SLC22A5	MLIP	SOD1	MDH2	KIF5A	TGM6	PEX14	DHTKD1	ATP7B	SIL1	L1CAM	DAO	EXOSC8	CLCN7	NDUFS6	YARS2	AMPD1	GFAP	B4GALNT1	PUF60	SIGMAR1	SCNN1G	PROKR2	NDUFAF4	P4HA2	FOXE1	PEX26	COG8	AMPD3	GSN	COL25A1	RFC1	ADA2	GJC2	HNRNPA2B1	MYMX	VRK1	HIVEP2	RNF170	PHKA2	FBLN5	ATP13A2	CBL	TRIM32	TRIP4	KLHL40	SLC25A20	HPRT1	MME	AP3B2	TP53	PNPT1	CNKSR2	TRPM7	AGTPBP1	SPTB	BAG3	PHACTR1	SPR	NDE1	SMCHD1	HLA-DRB1	GATM	PMM2	TREM2	ANG	AARS2	DKK1	UQCRFS1	VPS13A	COL12A1	GBA2	ACADM	RARS2	MIEF2	SPG21	SLC38A3	EYA1	FKBP14	GTPBP2	NGLY1	PSMB8	CFAP410	TBCD	PNKD	NDUFA6	ATG7	DCTN1	PEX16	YY1	MAPT	TRPV4	STAT1	CNTN1	PLA2G6	MECR	DOK7	GLT8D1	SLC25A12	RALGAPA1	PLAA	PHKB	MYO9A	UBE3B	MT-ND2	ADGRG1	COL5A2	SLC39A14	TSFM	IBA57	CAV1	CACNA1G	DALRD3	DPM3	DOLK	FOXRED1	HESX1	ALDOA	HS6ST1	ORAI1	FLAD1	GIPC1	POPDC3	SPRED2	ATP13A3	FOXC2	MTAP	SARDH	ATXN7	GABRG2	AFG3L2	CTNNB1	SLC5A6	TNR	OPTN	GJA1	CADM3	GRIN2D	PEX7	GBE1	LAMP2	CDKN2A	CRLF1	SMPD1	KCNK9	EMILIN1	FUZ	GABBR2	NUTM2B-AS1	POLG2	ALG14	UBA5	TGFB1	SEPTIN9	GJB1	DNAJC19	GABRA3	SCN1A	ACBD5	ZFTA	SEMA3E	MTMR14	EEF1A2	LRP12	ETFA	MT-ND1	MT-TK	HFE	GNPTAB	NIPA1	TCIRG1	SFRP4	MFSD2A	SPTLC1	AGK	PEX3	LIMS2	SLC25A46	PTPN11	CPT2	NTRK2	XYLT2	CCDC141	CFL2	SKI	SLC25A21	HOXB1	GYG1	DSE	HK1	SPARC	CACNA1A	ERBB4	RPS6KA3	CPT1C	PEX5	DUSP6	TOR1AIP1	ERGIC1	COL1A1	PIGQ	MTHFR	NDUFAF6	PEX13	BVES	PHKA1	LBR	PEX6	DNMT3B	PRX	ZNF526	NDNF	EBF3	NDUFV2	COL4A1	SPRY4	CEP126	PON3	MINPP1	SUPT16H	COL9A1	SIK1	CAVIN1	MAP2K2	STAC3	COA7	DPM2	LAMA2	DHX16	PAX8	SRPX2	IREB2	SLC12A3	PFN1	ATP1A2	IL12B	GRM7	MLX	RANBP2	COX10	DHFR	FLI1	STAT3	SPAST	TWNK	FMR1	CAV3	PREPL	TRMT10A	DSTYK	VHL	MRPS25	SLC35A2	SLC52A2	PEX10	MICU1	PRRT2	SDHAF1	PRKACA	FEZF1	SLC25A19	ATP6V1A	SLC13A5	ANKH	PHKG2	TUBB3	HINT1	SYT2	PTDSS1	ASCC1	COL5A1	ABCB6	FLVCR1	AMER1	NDUFA8	SLC26A4	MED25	NKX2-5	FA2H	FGF8	CPLANE1	SEMA3A	DCC	FGF13	SLC12A6	SGCA	SPTA1	MT-TH	DHDDS	EPB42	FBXO38	ADAR	RAB7A	OSTM1	MRAS	ABCA2	GM2A	IRF4	EXOSC5	PMPCB	GPHN	KY	ZFYVE27	AP5Z1	PPP3CA	MYBPC1	CPLX1	PDK3	PAX7	GABRB2	LYRM4	NDUFS8	FLRT3	VAPB	NEU1	MSTO1	SLC25A26	BICRA	CHMP2B	RARS1	GAA	SIX5	FGF23	NDUFAF8	RILPL1	HSD17B10	ATP1A1	SDHB	PNPLA8	ABCA1	B3GALNT2	SPG7	YARS1	BRAF	NPM1	NR3C1	RAI1	IFRD1	POU3F4	SNAP25	SNAP29	PYROXD1	CCDC174	SLC25A24	RAF1	TMEM63A	TRH	CLTC	FIG4	NDUFS3	FAR1	MICOS13	LIPE	SCYL2	SDHA	PRNP	RELA	EXOC8	CD59	TCAP	NTNG2	NEUROD2	CAPN1	SUCLA2	MT-CO3	D2HGDH	TBCK	CLCN2	PCLO	CYP11B1	PNPLA6	SMARCE1	FGF17	NACC1	FIP1L1	HTT	CDK19	OAT	SUCLG1	COX6B1	CASR	NDUFB8	MEN1	KCNJ1	RRAS	SCN2A	UBA2	GFM2	SCN11A	FGD4	FRG1	BAP1	PON2	XK	LTBP4	FARS2	NDUFA11	PIGF	DMXL2	ACOX1	CYP27A1	PABPN1	NF2	ZFHX4	JPH1	GRIN2A	PHYH	CLP1	TNFRSF11B	MTTP	LMNB1	IMPDH2	LRSAM1	TAF15	VWA1	KARS1	TMEM165	MT-TI	VPS50	RXYLT1	CYP2R1	PML	OPA1	PUS1	NDUFAF2	STAT4	CCN2	NRAS	GNB2	INPP5E	REV3L	KCNE3	IRF5	XRCC2	TRAF7	KCNC2	TCN2	CCN6	IL17RD	SALL4	PMPCA	NFU1	PIGP	ARMC5	NONO	COX6A1	DNAJB2	SOS1	PET100	VARS1	EPHA4	VDR	TRMU	CLCN1	FXN	TPI1	HJV	CACNA1B	PPARGC1A	PMP2	VARS2	NUP62	BCS1L	AK9	SLC34A2	NFE2L2	SBF2	TRIM8	VAMP1	AKT1	SZT2	TREX1	NSUN3	RBCK1	GEMIN4	ANXA11	TACR3	CNNM2	PARS2	AR	TFAP2A	PRORP	NOD2	KCNA1	PROK2	ZBTB16	PIK3CA	ALG13	TIMMDC1	TRMT5	ATXN3	SOS2	ELOVL5	CCR6	BOLA3	NBN	SMPX	GCH1	RASA2	PCNA	LGI4	SCNN1A	CAMK2B	KCNJ2	MYF6	SUFU	MT-CO2	FGFR1	SLC2A3	CHP1	TDP1	BTD	ATP5MC3	HADHB	ABHD16A	KCNJ10	AAAS	PGM1	COX4I1	NUS1	NDUFB11	SLC1A2	PAFAH1B1
HP_HYPOGLYCEMIC_COMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOGLYCEMIC_COMA	GLUD1	UCP2	ABCC8	ETFA	STAR	NNT	TXNRD2	KCNJ11	ETFB	INSR	HNF1A	MC2R	HMGCL	AKT2	HADH	HMGCS2	MRAP	ETFDH	GCK	NFKB2
HP_EEG_WITH_IRREGULAR_GENERALIZED_SPIKE_AND_WAVE_COMPLEXES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_IRREGULAR_GENERALIZED_SPIKE_AND_WAVE_COMPLEXES	GABRG2	GRIN2A	NEXMIF	SRPX2	SYNGAP1	SAMD12	SLC6A1	TBC1D24	SCN1A	CHD2	AP2M1	SLC2A1	STARD7
HP_PHOTOSENSITIVE_MYOCLONIC_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHOTOSENSITIVE_MYOCLONIC_SEIZURE	PCDH19	GABRA1	SCN2A	SCN9A	GABRG2	SCN1B	SCN1A	KCTD7
HP_SPECIFIC_LEARNING_DISABILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPECIFIC_LEARNING_DISABILITY	FGF8	MT-ND4	WIPF1	DLL1	ZIC2	PLCH1	HTT	SLC2A1	PRNP	TGIF1	SPG11	RNU4ATAC	NODAL	ORC1	NDUFB11	TUBG1	SETD2	EXTL3	DPYD	FKRP	FZD2	CDT1	SIX3	VCP	MAGEL2	SLC25A15	TCTN3	TCF4	PLA2G6	GP1BB	MT-TL1	TUBB4A	DCC	MBTPS2	RREB1	GNPTAB	POMK	DAG1	GAS1	ORC4	NSD1	KCNJ2	GDI1	TP63	STIL	SHH	TREM2	CDC6	POMT1	IGF2	FOXH1	GRIN2A	TMEM106B	CHMP2B	GRN	NIPA1	GABRB3	PSMD12	TINF2	CNKSR2	TBX1	LTBP4	SRPX2	APC	EHMT1	C9orf72	KIF11	HNRNPA2B1	LARGE1	WAS	APC2	GJC2	MT-ND6	FANCF	COL4A1	INPP5K	IRF6	CDON	SLC2A10	GLI2	MT-TS2	POMGNT2	TERT	HDAC8	MAP1B	TUBB2B	FLT4	NDN	MID1	MT-TQ	SRP54	MAP2K2	RXYLT1	MAN2B1	SC5D	SRY	SPRED1	MT-ND5	FGFR1	MYCN	SNORD115-1	MSX1	SPTBN1	OPA3	MAPT	KLF13	PWRN1	CACNA1H	MORC2	LAS1L	COQ2	PWAR1	FARSB	SBDS	ACTB	DGCR8	GRB10	LTBP1	NIPA2	PSEN1	COMT	ALDH18A1	BPTF	OCA2	DARS2	CCDC28B	FKTN	HAL	AMACR	SNRPN	NOTCH3	SEC24C	RPS23	SYN1	B4GAT1	WDR1	MICU1	SIL1	NTRK1	CKAP2L	SMC1A	MT-TF	DNAAF4	PMPCA	LYST	DMD	SPART	FBXW7	TUBB3	KCNA1	THOC6	TWNK	PTDSS1	CHCHD10	GALT	DISP1	SIM1	TRIO	AMER1	ATP7A	TSC2	PNKP	BLM	TSC1	FUS	NF1	MKRN3	KCNJ5	KIFBP	PRKAR1B	CRPPA	PTCH1	DVL3	ELN	TDGF1	KCNC3	ORC6	MTOR	MT-TH	COX7B	WNT5A	HCCS	H19	GABRG2	PI4KA	NTN1	ARX	TMEM94	IFNG	DGCR6	GRIA3	JAG1	CHRNA7	ACTG1	SBF2	ABCD1	POMT2	PRKAR1A	PIGH	RAD51	KAT6B	SMAD4	POMGNT1	YY1AP1	SQSTM1	NECTIN1	MLXIPL	PIK3C2A	HERC2	PRKD1	GMNN	TERC	AUTS2	UBE3B	VPS41	NPAP1	DVL1	ALMS1	ESS2	SH2B1	DGCR2	ADGRG1	CYLD	PRMT7	MYO5A	HIRA	ZFYVE26	GABRA1	HMGA2	VPS13D	STAG2	SNORD116-1	MT-CO1	TARDBP	AFF2	B3GALNT2	SPG7	ALDOA	CHSY1	ARL6	SMARCA2	SMPD1	SOX2	ARVCF	RDH11	DNAJC21	FRMD5	HNRNPA1	ASPA	SARDH	PDE4D	PIEZO2	STIM1	JRK	TMEM63A	GCLC	SIX6	CYP27A1	SUGCT	TBK1	RNF168	PAPPA2	HINT1	MT-CO2	CACNA1A	TCF12	LEMD3	CDC45	SLC2A3	MED13L	FMR1	PRRT2	JMJD1C	FOXP2	DIS3L2	DNAL4	BBS1	CLTCL1	MT-CO3	GLUD1	MT-TW	FIBP	CA2	UFD1	MTHFR	MT-ND1
HP_ABSENT_SEPTUM_PELLUCIDUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_SEPTUM_PELLUCIDUM	POMT1	PPP1R12A	LETM1	CPLX1	OTX2	CDC42BPB	B4GAT1	CSGALNACT1	NDUFB11	FGFR2	CDON	HYLS1	POMT2	COX7B	L1CAM	STAG2	WDR11	LHX4	PIGA	DYNC1I2	GLI2	PLCH1	EHMT1	CRPPA	ARNT2	KRAS	CTBP1	KIAA0586	PROP1	HESX1	NSD2	FKRP	PROKR2	LARGE1	SOX3	B3GALNT2	SSR4	COL18A1	CSPP1	EZH2	SOX2	FGFR1	POMGNT1	MUSK	FGFRL1	KIF7	COL4A1	HCCS	MBTPS2	GPR161	FANCI	WNT3	POMK	PTDSS1	NFIX	POMGNT2	POU1F1	CILK1	FOXA2	DAG1	ROBO1	DHCR24	PIEZO2	RSPO2	RXYLT1	FKTN
HP_DYSTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSTONIA	AMPD2	DEPDC5	ZIC2	NDUFA9	CACNA1E	ADCY5	SPATA5	CDKL5	PLCH1	THAP1	PDHA1	GRIA2	SLC2A1	SNCA	TGIF1	SERAC1	RNASEH2C	MT-ND1	CYP2U1	SPG11	NODAL	MT-CO3	ADAR	SALL4	NDUFS7	AP3D1	IFIH1	NPC2	SPATA5L1	SIX3	ATXN8OS	GSX2	NKX6-2	PCDH12	NDUFA13	PLA2G6	SLC39A8	COX15	MECP2	DNAJC12	ATP7B	COL6A1	ARV1	DLL1	SPOP	NDUFA2	SHQ1	TAF1	SYNGAP1	COQ2	COL6A2	ARX	RNASEH2B	HK1	VPS4A	REEP1	CHMP2B	GBA1	CHN1	MT-ND5	GLE1	MECR	WARS2	UPB1	KCTD17	AARS1	CABP4	TSEN54	PIGQ	GNAS	CLTC	DCTN1	NDUFAF6	MT-ND6	RNU7-1	TTPA	MT-ATP6	UBA5	FBXO7	MT-ND4L	FGF8	NEK9	GNB1	BCAS3	CDON	SMC1A	SLC30A9	HPCA	PRDM13	GLI2	MMUT	GRIN1	SUPT16H	MRE11	COLEC11	MAFB	SIK1	GNA11	HTT	SLC1A3	SPRED1	COL6A3	SOX10	VPS35	PCGF2	DLAT	FGFR1	TANGO2	DNAJC6	IREB2	DHX30	VAMP1	MAPT	ARSA	TOR1A	COASY	COX20	GRM7	POLR1D	PRRT2	TCOF1	TGM6	FUCA1	DNAJC13	PNPT1	ATP1A3	SYT1	PLEKHG2	NR4A2	TSEN2	ITGA7	FLI1	SLC9A6	DRD5	SLC19A3	AOPEP	TBC1D24	POLG	SURF1	TMEM240	APOE	TPK1	LSM11	NDUFS8	WDR45	COL4A1	SCN8A	ALS2	MT-CYB	ALDH18A1	MRPS25	JAM2	YIF1B	MOGS	MICU1	NADK2	FBLN1	FOXH1	POLR3A	MT-ND4	CKAP2L	GCH1	CRH	SHH	SCN1A	ROBO3	AUH	PTS	MMADHC	CARS1	PDGFRB	MAT1A	POLR3K	AP4E1	PARK7	MED23	ATXN2	HNRNPH1	TRAPPC11	VPS13C	SLC25A42	NKX2-1	PNKD	GALT	DISP1	STARD7	PNKP	PODXL	GDAP2	STIL	FA2H	GCDH	CP	CARS2	PRDX3	STN1	C19orf12	POLR1C	TIMM8A	TTBK2	KMT2B	AP4B1	UFM1	UBTF	SLC25A22	SLC18A2	KARS1	DNM1L	LIPT2	GLUD2	GM2A	GNAO1	FTL	VCP	CLCN4	CNP	UQCRQ	GRIN2A	GRIN2B	HIBCH	VPS37A	SDHD	SETX	PMPCB	ECHS1	POLR3B	FOXRED1	TACO1	TBP	ATXN1	FITM2	FUS	ACTB	SNORD118	MED27	HACE1	DLD	C9orf72	WDR73	TTC19	ALG3	CWF19L1	GLB1	CHRNA2	CIZ1	NUP62	NDUFS2	SH2B1	SCN1B	PLAA	RARS1	NAXE	LIPT1	RNASEH2A	DTYMK	ACER3	HSD17B10	NBEA	FGFR2	COQ9	PSAP	PNPLA8	MTO1	ALDH6A1	CYB5A	ALG2	ATP1A2	B4GALNT1	TDGF1	FRMD5	ANO3	PDE2A	CTC1	MT-TK	KCNN2	LONP1	JPH3	KIF1C	HINT1	CACNA1A	GAS1	MT-TW	KCNMA1	HPDL	SGCE	FRRS1L	NAA10	SAMHD1	MT-ND3	ATAD3A	EMC1	NEUROD2	TSPOAP1	CEP85L	GAD1	PTCH1	SPR	AP4S1	RNASET2	SUCLA2	AFG3L2	UBQLN2	SEPSECS	SLC20A2	FBXL4	UGDH	VPS41	ACADS	COQ8A	KCNQ2	PRKN	PLP1	SYNE1	CACNA1B	PDHX	ATN1	CASR	TUBB4A	NDUFB8	ATP13A2	KAT6A	SCN2A	SUOX	PCBD1	PANK2	LRRK2	DCAF17	SYNJ1	HSPG2	PCCB	NDUFA12	GFM2	NDUFAF2	SLC6A8	GAMT	SLC30A10	YY1	EARS2	SPTLC1	VAMP2	PDGFB	XK	TRAPPC12	TGFB2	FARS2	DMXL2	UCHL1	DEGS1	TMEM106B	NDUFA10	KCNA1	LRPPRC	PCCA	CPLX1	SCO2	IMPDH2	NDUFS3	ZC4H2	SDHB	NDUFA4	PRKAR1B	SPTBN1	SLC16A2	ADH1C	MCOLN1	EPRS1	CLPB	HTRA2	NDUFV1	OFD1	MYORG	VPS13D	CDK10	PSEN1	MARS2	KCNT1	STUB1	GABBR2	GIGYF2	NDUFAF3	TSEN34	PI4KA	MT-TV	EIF4G1	ZNF142	CYB5R3	PET100	SLC6A3	TMEM67	ATM	APTX	NTNG1	CASK	B3GALT6	MDH2	BSCL2	MPV17	PIGP	SDHA	NDUFA6	ATXN3	CNTNAP1	SIGMAR1	NDUFS4	ACOX1	TH	NDUFAF5	DALRD3	HPRT1	NDUFV2	FXN	GJC2	HIVEP2	SLC44A1	RNF170	CHRNA4	FOXG1	RHOBTB2	MT-TT	PPIL1	ECM1	PPP2R2B	KCNC3	STX16	AGTPBP1	OCLN	PRKRA	PRKCG	VPS13A	FGFR3	PINK1	SNCAIP	HEXB	MTFMT	CHRNB2	TRIM8	NGLY1	NDUFAF4	TWIST1	SCP2	RAB11B	TBCD	SLC39A14	PURA	VPS16	ATG7	TREX1	DDC	PPFIBP1	TRPV4	GNAL	TUBB3	GABRB2	QDPR	GRIK2	TXN2	VAC14	MT-ND2	EIF2AK2	NDUFS1	COL12A1	TSFM	H4C5	STAG2	PIK3R5	CACNA1G	TSEN15	SUCLG1	AP4M1	TPI1	IRF2BPL	CDC40	POLR1B	NHLRC2	DHDDS	TNR	CUX2	MYF5	ACTA1	CYP27A1	SQSTM1	NPC1	DRD2	SLC2A3	MT-TL1	ATP5MC3	MRPS34	COPB1	AARS2	TRIT1	ALG9	OGDH	BCAP31	ACSF3	NAXD	DNAJC19	VPS11
HP_COMMUNICATING_HYDROCEPHALUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMMUNICATING_HYDROCEPHALUS	CDCA7	HERC1	TRIM71	HELLS	B4GAT1	TRNT1	SLC2A1	SEC24D	CDC42BPB	GCDH	P4HB	ZBTB24	FBN1	PTEN	MPDZ	DNMT3B	SKI	MAN2B1	DNAI1
HP_BIMANUAL_SYNKINESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIMANUAL_SYNKINESIA	PROKR2	SVBP	DNAL4	CEP152	HESX1	PROK2	CCDC141	FGF17	ANOS1	FGFR1	SOX10	TMEM147	HS6ST1	KNL1	NDNF	CHD7	DUSP6	DCC	TACR3	SPRY4	FGF8	FLRT3	FEZF1	NTN1	IL17RD	GDF6	LARGE1	CDH2	SEMA3A	RAD51	WDR11
HP_MYOCLONUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOCLONUS	SCN2A	MT-ND4	SMARCE1	CACNA1E	ADCY5	EEF1A2	CDKL5	PDHA1	DNM1	HTT	DAB1	KCND3	SLC2A1	SNCA	GABRA5	ST3GAL3	CACNA2D1	CDK19	PURA	PSAP	CACNB4	PIGY	FBXO28	CNTN2	LMNB2	COQ8A	GRIN2B	CACNA1B	ATN1	EPM2A	SCN9A	CASR	PLA2G6	MT-TL1	TRAK1	ASAH1	PSAT1	HMGCL	SLC25A46	SMO	YEATS2	PPT1	NTRK2	ATP13A2	KCNQ3	STAMBP	ACTL6B	SERPINI1	KCNC3	GRIN1	NAGA	SGCE	GUF1	CACNA1A	CHMP2B	PRRT2	MECR	GABRB3	YWHAG	GFAP	KCTD17	TOMM40	KCTD7	BAP1	GALC	TRAPPC12	GLRX5	RMND1	PIGQ	FARS2	PGM3	GNAS	CLTC	DMXL2	MECP2	PIK3CA	KCNA2	MT-ND6	NEU1	PRNP	NF2	EFHC1	HLA-DQB1	GRIN2A	CTNND2	GNB1	SMC1A	GOSR2	CPLX1	GAMT	MT-TS2	ATP6V1B2	MINPP1	MOCS1	LIG3	MRE11	NOP56	POLG	GABRA2	SIK1	MT-TQ	MT-TI	SCN1B	FOXRED1	GNA11	NOL3	ATAD1	SC5D	SOX10	MT-ND5	NUP214	SLC25A22	CIC	GLYCTK	NGLY1	ADRA2B	DNAJC6	MAPT	GLRB	SLC6A1	CACNA1H	TBC1D24	COQ2	ANO3	SMARCB1	SCN3A	GRM7	SLC6A5	ABCA7	CLPB	AFG3L2	CHD2	GABRD	ATP6V0A1	DHFR	VPS13D	INPP5E	PSEN1	SEMA6B	PIGA	SMS	MAPK10	JRK	MARCHF6	APOE	TOE1	PHACTR1	TWNK	CNPY3	MTOR	AARS1	HCN1	SCN8A	TNRC6A	SORL1	ATM	TRAF7	CLN3	CTSF	NTNG1	CASK	KCNC2	ARX	OCA2	SCN1A	ATP6V1A	CLN6	SLC13A5	NFASC	SPTAN1	PTS	BSCL2	MT-TF	GABRA1	PIGO	NFU1	PTCD3	DNAJC5	TREM2	PIGP	SDHA	ARV1	KIF5A	TSEN54	TOR1A	PLPBP	CELF2	LIAS	ZNHIT3	HNRNPU	FZR1	SYNJ1	TH	NDUFAF3	PET100	PNPO	COG8	AMT	TXN2	STARD7	CLN8	CARS2	AFF3	CILK1	NDUFV1	PRDX3	PRKCG	TPP1	NECAP1	FGF13	PIGV	ATP1A3	SYNGAP1	APP	SATB1	KMT2B	AP3B2	STX16	CNKSR2	MT-TH	DHDDS	ADSL	GRIA3	RORA	AP2M1	PODXL	KCNC1	AKT3	ADAR	TMEM231	GABRG2	NARS1	MTPAP	KCNQ2	IRF4	NUP62	FBXO7	FGF12	GNAO1	FTL	PDGFB	SAMD12	FRRS1L	SCARB2	HIBCH	SDHD	TRIM8	GCSH	SLC38A3	GABBR2	NDUFA4	SLC25A10	ABCD1	PCDH19	AP5Z1	TBP	AKT1	PPP3CA	SZT2	ATXN2	DDC	C9orf72	POLR1C	NHLRC1	GABRB2	GLRA1	CUX2	BRAT1	MT-ATP6	CCDC88A	ATP1A2	YRDC	SLC25A12	PARS2	QDPR	UBE3A	CLCN2	GRIK2	MOCS2	CIZ1	KCNA1	VPS41	RORB	PSEN2	CERS1	GLDC	EIF2AK2	CSTB	ST3GAL5	POMGNT1	COQ5	VPS53	DTYMK	DENND5A	TERT	TIMMDC1	DOCK7	MT-CO1	SLC1A4	DALRD3	SUCLG1	CLCN4	BOLA3	MT-TP	GBA1	RFT1	SLC7A6OS	FRMD5	NHLRC2	WWOX	CLN5	PGAP2	TAF1	PRICKLE1	KCNN2	KCNB1	MT-TK	CYP27A1	WDR45	KIF1C	SUFU	MT-CO2	GRIN2D	DRD2	NKX2-1	PIGW	PGAP3	SLC2A3	CYFIP2	PLCB1	NEUROD2	PRDM8	TSPOAP1	GPHN	COX4I1	UBA5	NUS1	TYROBP	SLC1A2	RAPGEF2	JAG1	TSPYL1	MT-CO3	MT-TW	HEXB	NAXD	KIF1B	THAP1	PNKP	PIGL	MT-ND1
HP_TREMOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TREMOR	CHCHD10	TFG	SDHB	VPS37D	VCP	NEMF	ADCY5	CUL4B	EEF1A2	CDKL5	CPLANE1	PDHA1	LRP12	VHL	MFN2	SNCA	PDYN	GABRA5	RNASEH2C	OXR1	OPA1	NEFL	SPG11	DNMT3A	SETD2	MT-CO3	ADAR	ALDH18A1	TMEM240	NIPA1	FMR1	NKX6-2	SCN9A	SPTLC1	PLA2G6	SH3TC2	ITM2B	ASAH1	ATP2B3	SLC25A46	YEATS2	PDE10A	NTRK2	MECP2	CCDC141	ATP7B	SLC39A4	TMEM237	TPP1	MAX	XPNPEP3	CSPP1	TAF1	UROC1	POLG	COQ2	AP2M1	RNASEH2B	POLR3A	TOPORS	CACNA1A	CARS2	MT-ND5	DUSP6	PIGN	WARS2	YWHAG	AMACR	TMEM218	CA8	ERCC8	PIGQ	ATP6AP2	DCTN1	FKBP6	ITPR1	ANO10	MKS1	TRIO	FBXO7	MT-ND4L	NDNF	SPRY4	CEP126	ABHD12	SMC1A	GOSR2	POU4F1	SUFU	HPCA	PEX2	MRE11	NOP56	PNPLA6	SPEN	SDHA	PGAP1	GABRA2	SIK1	SCN1B	PTEN	COA7	SLC1A3	DNMT1	COL6A3	VPS35	SMN1	SLC25A4	GPAA1	TNFSF11	OPA3	CAMTA1	NGLY1	DNAJC6	CHD2	VAMP1	MAPT	TTPA	ARSA	TOR1A	SCN3A	GRM7	TGM6	DNAJC13	ATP1A3	NR4A2	THOC2	SEMA6B	CACNA1G	KCNJ18	SLC25A11	EPAS1	KIF1B	TPK1	GJC2	MT-ND1	LSM11	TNPO2	WDR45	SLC6A17	GPT2	COQ8A	FGF14	ALS2	HCN1	BAZ1B	PDK3	DARS2	MT-CYB	RPGRIP1L	MICU1	CTSF	CRAT	FEZF1	SLC19A3	EIF4H	MT-ND4	MARCHF6	GCH1	SPTBN2	TCTN2	ATP6V1A	ADA2	SLC13A5	RAB3GAP2	GJA8	PITRM1	PDGFRB	PRICKLE1	PPP2R2B	ARV1	PARK7	PRDX1	GBA1	ATXN2	TRAPPC11	STUB1	VPS13C	FZR1	SYNJ1	SNRPN	SYNGAP1	PMP22	GALT	ABCB6	WDR11	KCNA1	STARD7	ATXN8OS	PODXL	CD28	KATNIP	PAH	KCNK4	MMACHC	ITPA	SCN8A	GCDH	SACS	QRICH1	FGF8	ATCAY	PRDX3	NECAP1	C19orf12	TIMM8A	SEMA3A	ERCC6	DCC	FGF13	METTL27	INPP5E	SATB1	KMT2B	ARMC9	MAG	TCTN3	ADAMTS13	UGT1A1	NOTCH2NLC	MARS1	DHDDS	SLC25A22	SLC18A2	WDR81	GCK	ERCC5	DNM1L	NARS1	GLUD2	UQCRC1	FGF12	GNAO1	FTL	MT-CO1	LEMD2	GTF2H5	SCARB2	HIBCH	DPAGT1	CP	CLN5	GGT1	BCL7B	MPZ	SETX	TSHR	SFXN4	NCF1	POLR3B	TBP	ATXN1	FUS	PPP3CA	ARX	TRAPPC6B	MYBPC1	SNORD118	ADGRV1	TMCO1	LRRK2	C9orf72	POLR1C	TTC19	ELOVL4	CWF19L1	GABRB2	ATP1A2	FLRT3	VAPB	SDHD	MSTO1	CNTN2	CDH23	TMEM67	CIZ1	PIK3CA	ERCC3	KCNA2	AARS1	RARS1	NAXE	GIGYF2	KIF1C	RNASEH2A	AASS	RILPL1	MYO5A	ZFYVE26	DDOST	DNAJC30	CACNA1C	VRK1	TOGARAM1	PSAP	TMEM222	B9D2	MRPL12	SDHC	SCN1A	LAMA1	CARS1	ANO3	BUD23	IFRD1	PEX10	CTC1	WWOX	CEP104	UFC1	TMEM63A	KCNN2	KCNB1	CLTC	NPHP1	SLC9A1	AHI1	SCN2A	LNPK	GJB1	RNF113A	FAR1	GJA5	STXBP1	JPH3	LEMD3	HYCC1	PRNP	HNF4A	AIFM1	TTR	TMEM216	PEX16	SAMHD1	PPP1R15B	BEAN1	SOX10	SAMD12	ABCB4	CYFIP2	NTNG2	NEUROD2	TSPOAP1	ATP8B1	TCIRG1	TK2	SPR	FAM149B1	JAG1	ADPRS	AFG3L2	MT-ATP6	NONO	CHCHD2	AKT1	FGF17	SLC20A2	VLDLR	EIF4G1	HTT	DNM1	MT-ND2	DAB1	KCND3	MYL2	CACNA2D1	KIAA0753	CDK19	MT-ND6	PRKN	STX1B	PLP1	RRM2B	TRIM8	ATN1	CBY1	FH	TUBB4A	ATP13A2	MEN1	ERCC4	SLC2A1	GRM1	PCBD1	ACTL6B	CELF2	GABRD	NDRG1	PHIP	DPM1	SGCE	MLXIPL	PMPCA	SLC30A10	YY1	PDGFB	HYLS1	MYOT	SCYL1	KNSTRN	FARS2	DMXL2	MAN1B1	UCHL1	GTF2E2	APC2	TMEM106B	NEU1	KIF7	CEP41	CTNND2	MME	ANOS1	FRMPD4	GAMT	LMNB1	IMPDH2	CLIP2	CC2D2A	RET	PDE6D	MYH14	GBA2	PRKAR1B	KCNJ10	SPTBN1	ADRA2B	ADH1C	SLC6A1	TNNT1	LYST	MORC2	CCDC88C	TMEM127	NR1H4	MDH2	EPRS1	PANK2	CLPB	HTRA2	GABRG2	GSS	OFD1	ABCB7	VPS13D	NSD1	PIGA	PGK1	CEP120	SMN2	CLCN7	PI4KA	PTS	TRAK1	TCTN1	ZNF142	REEP2	ELN	HMBS	ATM	APTX	ERLIN2	NTNG1	CASK	SNX10	OCA2	IL17RD	NFASC	BSCL2	RLIM	PIGP	SIGMAR1	PROKR2	TH	KIAA0586	PRPS1	GABRA1	DLST	HSD17B4	PNP	FXN	RPL10	RFC1	CTLA4	PRKCG	CACNA1B	RNU7-1	MT-TT	PMP2	TNFRSF1B	THG1L	PIBF1	KCNC3	AP3B2	WFS1	CNKSR2	TAT	GRIA3	RORA	GTF2IRD1	KCNC1	PRKRA	PMM2	MMAA	TWNK	DRD3	PINK1	SNCAIP	HEXB	NFE2L2	VPS13A	ABCB11	LRPPRC	CTDP1	SBF2	ELOVL1	NEXMIF	RNU12	TMEM70	SLC38A3	GABBR2	GTPBP2	SCP2	MPLKIP	PCDH19	SLC39A14	CTH	PIK3CD	ATG7	SZT2	DDC	VWA3B	RFC2	BRAT1	TBL2	FLVCR1	NF1	SLC25A13	UBE3A	PUS7	ARL13B	SLC5A7	GTF2I	TACR3	LMAN2L	PARS2	QDPR	TREX1	AR	TENM4	GRIK2	NUS1	PRORP	STX1A	PROK2	SLC12A6	MAOA	CDC42BPB	EIF2AK2	CHD7	COQ5	SMG9	TSFM	TBC1D24	HMGA2	PEX6	PIK3R5	TRMT5	DALRD3	ZFR	SLC6A3	MTFMT	HESX1	TARS1	ELOVL5	HS6ST1	TPI1	CLCN2	CACNA1S	NDUFS2	ATXN10	ATXN7	ARL3	ERCC2	CSTB	CYP27A1	SQSTM1	GRIN2D	FGFR1	OPHN1	NKX2-1	GTF2IRD2	LIMK1	IFIH1	GRIN1	GALC	TMEM270	MRPS34	TECR	AARS2	NUTM2B-AS1	POLG2	UBA5	SLC1A2	RAB39B	CYP7B1	B9D1	DNAJC19	SDHAF2	PNKP	GABRA3	ACBD5
HP_PARTIAL_AGENESIS_OF_THE_CORPUS_CALLOSUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARTIAL_AGENESIS_OF_THE_CORPUS_CALLOSUM	L1CAM	MRPS25	ERCC3	ERCC2	TUBB	KAT5	RNF113A	CLCN3	WDR4	SLC25A19	NSD1	DHCR7	PTCH1	MPLKIP	TRAPPC12	TUBA1A	PLCH1	KIDINS220	KATNB1	FRMD4A	LRP2	C2CD3	GTF2E2	CDK5RAP2	TCF12	PDHX	LRRC32	MDH1	GLI2	ARID1B	TARS1	FUZ	TUBB3	MAN2C1	GPSM2	PDHA1	RNU4ATAC	CDC40	MED12	DHCR24	CARS1	CENPE	SUPT16H	KDM5B	AMER1	GTF2H5	TNR	OSTM1	LONP1	CRPPA	TMEM260
HP_LISSENCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LISSENCEPHALY	FKRP	TUBB2B	KIF2A	VLDLR	STIL	SASS6	NSDHL	POMT1	PAFAH1B1	MPDZ	PHC1	CPT2	FKTN	KIFBP	ETFA	B3GALNT2	FOXG1	TRAPPC10	MEG3	CCBE1	ADAMTS3	B4GAT1	MCM7	FBXO28	PYCR2	CRPPA	FAT4	TBR1	RAB18	ATP6V1A	RTTN	PDHB	CDK5	KIF14	NDE1	WDR62	OCLN	SLC25A22	AKT3	PI4KA	GPX4	POMK	ARX	SCN2A	GNAO1	DAG1	EML1	PIDD1	ACTG1	TRAPPC14	EXOSC5	TBC1D20	ANKLE2	PSAT1	LAMB1	RXYLT1	TPRKB	LMNB1	TRIM8	VIPAS39	CRADD	LAMA2	KNL1	RAB3GAP2	POMT2	NARS1	TUBB3	RMND1	PIGQ	MACF1	ARHGAP31	STS	GMPPB	DCX	DMXL2	VPS33B	PIK3CA	KATNB1	TUBGCP2	LARGE1	WDR4	POMGNT1	PPFIBP1	WDR73	ETFB	BLTP1	CENPJ	TMTC3	COPB2	TP73	PIK3R2	COL4A1	TCTN2	ATR	CCDC88A	SLC30A9	POMGNT2	ISCA1	FIG4	PRKDC	PHGDH	NCAPD3	DHCR24	RELN	CIT	SIK1	NUP107	CSNK2A1	FTO	KCNA1	TAF13	GFM2	TUBB	SCN1B	ADGRG1	NUP133	SRPX2	LAGE3	ATP6V1E1	OSGEP	DYNC1H1	MLYCD	CEP85L	GRM7	TUBA1A	LAMC3	ALG12	DLK1	HIC1	ACTB	CDK6	CDKL5	FRMD5	DCHS1	NFIX	TUBG1	NEK1	MTOR	SNAP29	CTU2	APC2	MCPH1	CDK5RAP2	VAC14	RAB3GAP1	TP53RK	ASPM	FLI1	ETFDH	CASK	PEX10	WDR26	CTNNA2	MFSD2A	CEP152	ATP6V0A2	RTL1	CEP135	GRIN1	PEX13	YWHAE	PIGP	TMX2	TCTN1	METTL5	NEUROD2	RNU4ATAC	ZNHIT3	CEP63	SLC25A19	TUBGCP6	PNKP
HP_CEREBRAL_HEMORRHAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_HEMORRHAGE	VHL	F13A1	SDHB	SMARCE1	PROS1	NOTCH3	SDHD	FGB	NDE1	TRAF7	SUFU	PIK3CA	BAP1	TERT	TMEM127	CST3	SMARCB1	AKT1	F13B	MDH2	CCM2	DNMT3A	PDCD10	ADA2	ABCC6	MAX	CFH	JAK2	SNORD118	RET	BRCC3	KRIT1	NF1	ACVRL1	LMOD2	GGCX	NF2	APP	CD46	CFI	KIF1B	FH	SDHC	FCGR2C	ENG	SLC25A11	GDF2	FGG	HELLPAR	EPAS1	SMO	CPT2	SH2B3	FN1	SMAD4	USP18	COL4A1	IKBKG	SDHA	PDGFB	FLNA	STAT2	DLST	SDHAF2	FGA
HP_ABSENT_SPEECH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_SPEECH	AMPD2	ZIC2	NACC1	ODC1	CACNA1E	HTT	CUL4B	SPATA5	PLCH1	GRIA2	GPT2	TGIF1	GABRG2	CASZ1	KCNQ5	SERAC1	BMP4	VPS41	SMARCB1	ASXL3	NODAL	EIF3F	GNAO1	SMARCE1	EXTL3	DPYD	ALDH18A1	CAMK2A	PGAP1	IFIH1	DPYSL5	SIX3	TMEM231	GSX2	CACNA1B	ATP1A2	TRIM8	HSPG2	MFSD2A	TCF4	SLC12A2	WDR26	SMARCA4	CCND2	PUS3	TUBA8	MECP2	ISCA2	CACNA2D2	ZEB2	GRM1	NALCN	KAT6A	DLL1	SUOX	UNC80	GAS1	ARID1B	VPS33A	ZBTB18	STIL	SHH	GFM2	SATB2	FOXH1	VPS4A	FGF8	LMNB1	CARS2	PIGN	VPS11	KCNB1	WARS2	YY1	RALA	EARS2	CNKSR2	INTS8	PRDM16	RMND1	FARS2	MACF1	PPP2R5D	PACS1	MKS1	PIGF	CLTC	LINGO1	C2CD3	KIAA0586	HDAC4	ACOX1	UBE3A	NCAPG2	KCNA2	UFSP2	DPH5	RNU7-1	DEGS1	CSPP1	TMEM106B	ARID1A	CHKA	UBA5	PDPN	CDC42	TMTC3	ATN1	MCOLN1	TCTN2	WAC	BCAS3	CDON	FRMPD4	GAMT	GLI2	GRIA4	CLP1	GRIN1	SUPT16H	DEAF1	SPEN	TRRAP	KLHL15	SMARCD1	DAG1	FOXRED1	EXOSC3	DPM2	SYNGAP1	FGFR1	TANGO2	TMEM147	SPTBN1	SLC38A3	IREB2	DHX30	KIF1A	GABRD	FGF12	SPTBN4	PRUNE1	MED12	ASPA	ARFGEF1	HID1	CHAMP1	USP27X	CYFIP2	WDR45B	PNPT1	FOXG1	FRMD4A	POGZ	DOHH	SLC33A1	UBE3B	GOT2	TBC1D20	RAC1	SLC9A6	PIGA	SMS	COG4	TTC5	ERLIN2	TOE1	CLPB	ADARB1	TNPO2	CLCN3	PURA	WDR37	WDR45	MMP23B	DARS2	SLC6A3	SLC35A2	RAB5IF	LAS1L	STRADA	TIMM50	CASK	PIGG	USP7	ATP6V1A	KCNC2	PGAP3	H4C11	OCA2	IQSEC2	HUWE1	FKTN	MDH2	SCN1A	SMC1A	DYRK1A	DCPS	SOX11	CNNM2	POLR3K	SMARCA2	ALG11	MAGEL2	HNRNPH1	LARGE1	HNRNPU	SNRPN	SLC1A2	DISP1	TRIO	VARS1	DALRD3	PPP3CA	HIKESHI	PRPS1	IARS1	WDR4	POLRMT	ACTL6B	HIVEP2	KCTD7	HCN1	RAB18	KMT5B	SIK1	RHOBTB2	PTCH1	PPIL1	GABBR2	TDGF1	SKI	SATB1	AGTPBP1	UFM1	IQSEC1	PSMC1	ALG14	CCDC47	EEF1A2	MPDU1	MINPP1	GNS	DNM1L	LIPT2	BCL11B	POMT1	ARL13B	CLCN4	SCN3A	SNX14	UQCRQ	OTUD6B	FRRS1L	SOD1	GRIN2D	DPAGT1	TRAPPC10	EXOSC5	CHMP1A	SLC6A17	TELO2	YME1L1	RARS2	GNB5	CREBBP	PMPCB	CNTNAP2	GRIA1	CLIC2	TKT	DOCK3	UBTF	NGLY1	RAB11B	ZC4H2	TBCD	PIGV	LUZP1	ATG7	TREX1	TRAPPC6B	CPLX1	KIF5C	COG8	PYCR2	SLC1A4	BRAT1	GEMIN4	TMCO1	UBE2A	PIGW	PPFIBP1	OPHN1	BLTP1	NFIX	ATP10A	GABRB2	KCNH1	LMAN2L	CCDC88A	KCNAB2	TFE3	SLC25A12	RALGAPA1	CENPJ	UGP2	SMARCC2	PGAP2	NTRK2	TRAPPC11	CSNK2A1	RAB3GAP2	CRBN	TAF2	ADSL	SLC12A6	EIF2AK2	RERE	ST3GAL5	SRCAP	FKRP	DENND5A	SLC39A14	CACNA1I	KARS1	HSD17B10	STAG2	TRAPPC2L	PRKCZ	ELP2	POMT2	PPP2R1A	SOX4	NSRP1	TOGARAM1	DOLK	AP3B2	DNM1	SLC2A1	MRPL12	IRF2BPL	RPL10	TOR1A	NCAPD2	SYT1	ASH1L	HERC1	KIF15	SETBP1	PSMB1	INTS1	GMPPB	NEXMIF	SHROOM4	UFC1	HNRNPH2	MEF2C	MBOAT7	LINS1	PARS2	ARID2	LNPK	GRIK2	TBL1XR1	CAMK2B	NSD1	NR2F1	STXBP1	TBCE	UBE4B	GRIN2B	CTNNA2	MSL3	MAST1	DPF2	NEDD4L	MRPS34	COPB1	MFF	TRIT1	PIGP	NTNG2	AIMP2	ABHD16A	KCNJ10	MED25	PIGS	GNAI1	SHQ1	ZSWIM6	PLP1	EP300
HP_PSYCHOTIC_MENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSYCHOTIC_MENTATION	MT-ND4	CHRNB2	DEPDC5	MT-ND6	MT-ND5	MT-TH	MT-TL1	KCNT1	FIG4	MT-CO2	CHRNA2	CABP4	MT-TS2	CHRNA4	CRH	MT-CO3	MT-CO1	MT-TW	GRIN2A	AIP	FRRS1L	USP8	MT-TF	ALDH4A1	MT-TQ	MTHFR	GSS	MT-ND1
HP_HYPERREFLEXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERREFLEXIA	AMPD2	NDUFA9	SPG7	CACNA1E	VPS37D	ADCY5	RGR	PI4KA	IDH3A	PRPF4	SIGMAR1	NEFH	SLC2A1	SNCA	PDYN	SPG11	MT-ND1	FARS2	KCNJ6	CYP2U1	OPA1	RTN2	ALDH18A1	NDUFS7	NIPA1	PGAP1	SLC7A14	ATXN8OS	VCP	PCARE	MFSD2A	NKX6-2	PEX10	PCDH12	NDUFA13	AAAS	PLA2G6	TRAK1	MORC2	SLC39A8	SLC25A46	COX15	LETM1	MSTN	KLC2	PUS3	MECP2	BSCL2	ZEB2	KCNQ3	TPP1	NDUFA2	TAF1	SLC25A21	NAGA	PALB2	TRAPPC14	ANKLE2	KRAS	CREBBP	NRCAM	GEMIN5	BRCA2	EXOSC9	KIF1A	ARL3	CHMP2B	CPT1C	PIGN	GLE1	RUSC2	MECR	WARS2	RP2	FDX2	PMP22	AMACR	GALC	ERCC8	GLRX5	ATP6AP2	GMPPB	FKBP6	SOD1	CRB1	MCCC1	KATNB1	MT-ND6	TUBGCP2	LBR	ITPR1	DNMT1	POMGNT1	KDM5C	ANO10	MT-ATP6	CHKA	TRIO	FBXO7	DYM	MAD2L2	DDHD2	CYP7B1	MCOLN1	TCTN2	ABHD12	EIF2S3	GNB1	BCAS3	POU4F1	CLP1	MINPP1	ASNS	BRIP1	MRE11	NOP56	BICD2	TRRAP	POMT1	IL12A-AS1	NR2E3	HTT	SLC1A3	EXOSC3	DLAT	NUP214	TANGO2	GPAA1	SEPSECS	SLC52A3	TULP1	ABCC9	SRPX2	IREB2	SNRNP200	AGTPBP1	VAMP1	TOR1A	TBK1	TSEN15	TMEM63C	TGM6	FUCA1	SEMA4A	ALG11	PDE6A	CLPB	COX10	TSEN2	ALS2	REEP1	SEMA6B	HTRA1	NRL	CACNA1G	SLC19A3	PDHA1	TREX1	SLC6A19	USH2A	APOE	SPAST	GJC2	ATXN10	NR4A2	NDUFS8	ATXN1	GPT2	COQ8A	HEXB	MCPH1	PSEN1	TRMT10A	MT-TE	CCT5	DSTYK	SQSTM1	BAZ1B	DCC	ATP8A2	MRPS25	BEST1	DGUOK	BCAT2	NRAS	JAM2	PEX6	RPGRIP1L	UBAP1	DARS2	IMPDH1	MICU1	TIMM50	MAN2B1	SDHAF1	CTSF	CRAT	PRPF8	ATP6V1A	PGM3	POLR3A	EIF4H	SPTBN2	SPTAN1	PEX3	FGF13	SCN1A	AUH	PTS	KLRC4	AHI1	CARS1	PITRM1	PDGFRB	KIZ	MAT1A	PPP2R2B	SDHD	PRR12	AP4E1	RNASEH2C	SPART	PARK7	PEX1	TOPORS	ATXN2	PDE6B	STUB1	VPS13C	GRM7	CEP63	IFT140	SNRPN	GARS1	MAK	LYRM7	GRM1	FANCC	KCNA1	UBE3A	PODXL	CERKL	ERCC6	SLC33A1	GDAP2	GLRB	MATR3	WDR4	PAH	KCNK4	HPDL	ATP5MK	FA2H	FAM161A	IL10	GUCA1B	ACSL4	KIF5A	C19orf12	RAB18	TRAPPC10	CSF1R	TIMM8A	ATAD1	SETX	METTL27	INPP5E	MT-ND5	PSAP	AP4B1	STAT4	COQ2	NDUFS4	WDR62	POLR3B	PAK3	SHMT2	ADAR	OSTM1	DNM1L	NARS1	MTPAP	PAX1	ARX	GM2A	FTL	PRPF3	RBP3	SPTLC2	CNP	PDE6G	GTF2H5	UQCRQ	MFN2	EXOSC8	VPS37A	CLN5	EXOSC5	ERAP1	CHMP1A	TICAM1	PCYT2	BCL7B	SLC46A1	IFT172	ABCA4	GCSH	GPHN	KY	NCF1	ZFYVE27	PPP1R15B	ABCD1	AP5Z1	RP9	FOXRED1	SLC6A9	IFNGR1	SAMD9L	MT-TK	FUS	KIDINS220	OFD1	TRAPPC6B	GFM1	WDR73	TTC19	ELOVL4	PROM1	CWF19L1	COPB2	FANCI	BRAT1	LYRM4	MLXIPL	CCDC88A	GLB1	TOE1	UGP2	NEU1	PEX11B	PQBP1	TMEM67	CIT	XRCC2	GBA1	TAF2	NDUFS2	ERCC3	ELN	AARS1	GLDC	RARS1	CNGA1	ST3GAL5	LIPT1	KIF1C	HSPD1	SPG21	ERLIN2	DTYMK	RAB3GAP1	ZFYVE26	GLRA1	SLC29A3	FKRP	SDHB	C4A	VRK1	COQ9	SLC1A4	ELP2	NSRP1	MAG	DCTN1	PRCD	GRID2	IL23R	MT-TL2	MED17	KCND3	MEFV	ALG9	HARS1	ALG2	SLC35C1	AP1S2	B4GALNT1	NUBPL	FANCF	BBS1	BUD23	IFRD1	NFIX	ASPA	POU3F4	GAN	ARL2BP	SELENOI	ATG5	UFC1	PLP1	PRNP	PARS2	TRAPPC11	SAG	MKS1	CLDN11	RNF113A	FAR1	GCLC	POMK	MICOS13	JPH3	FANCM	NSD1	GCH1	TUBB2B	ARL6IP1	CACNA1A	EYA1	SDHA	MT-TW	PEX26	MT-TN	HGSNAT	PRPH	PIGA	HYCC1	DYNC1I2	CASK	OCLN	PEX16	DPAGT1	MT-ND3	EXOC8	CD40LG	MFF	JAM3	RNF2	AIFM1	BEAN1	PRRT2	PRDM8	TSPOAP1	NOTCH2NLC	CAPN1	FANCE	NT5C2	GAD1	FANCG	AP4S1	SURF1	AFG3L2	LARGE1	RPGR	DNAJC6	AHR	CHCHD2	PCLO	COX5A	PNPLA6	FSCN2	SLC20A2	FANCB	AASS	EEF2	VLDLR	STIL	PC	SASS6	PRSS12	UBE2T	UGDH	KCNT1	MYL2	PHC1	TLR4	PRPF31	EXTL3	DPYD	PRKN	NARS2	PEX5	ATL1	SYNE1	DDHD1	SLC25A15	EYS	KIF14	ISCA2	ATP13A2	CAMTA1	ERCC4	GJA1	ALG3	BBS2	REEP6	KCNC3	DPM1	SYNJ1	PRDM13	NDUFA12	GFM2	FLRT1	NDUFAF2	KPNA3	PMPCA	GRN	ERLIN1	LMNB1	NDP	IMPG1	NSUN2	WASHC5	GFAP	SPTLC1	CLRN1	PDGFB	ABCB7	SCYL1	GMPPA	QARS1	AGBL5	RAD51C	CYP27A1	UCHL1	GTF2E2	PRPH2	TMEM106B	NDUFA10	RPE65	CENPJ	FANCA	NALCN	RNASEH1	TTC8	FRMPD4	GAMT	IMPDH2	RUBCN	CLIP2	USP8	NDUFS3	NCAPD3	ACTA1	CC2D2A	GJB1	DHDDS	RFWD3	ZNHIT3	NDUFA4	GBA2	TAF13	SLC25A22	SPATA7	SPTBN1	SLC38A3	SLC16A2	NAA20	PRUNE1	CCDC88C	GNB2	HLA-B	ARHGEF18	CYFIP2	SLC6A5	UROC1	PANK2	HTRA2	NDUFV1	FBLN5	BRCA1	MYORG	VPS13D	MARS2	CDK6	COG4	SACS	WDR81	ROM1	MTRFR	TRAF3	MT-TV	ATRX	CA4	PIGT	OPA3	MT-TL1	ZNF513	PPOX	CDK5RAP2	RP1L1	RLBP1	ATP1A2	NDE1	ERCC1	PET100	SLC18A2	EP300	ASPM	KLHL7	PLCB1	OCA2	NAA10	HUWE1	PEX14	HRAS	NFASC	SET	CEP135	RLIM	OCRL	C9orf72	GNAQ	TMX2	MERTK	ATXN3	TREM2	LRRK2	CRX	NONO	CNTNAP1	NDUFAF5	NDUFAF3	TBX4	UNC93B1	AMT	HPRT1	HIKESHI	NDUFV2	PRPS1	RP1	ARSA	GLYCTK	COG5	SLC44A1	RNF170	MCCC2	PRPF6	MCM7	PYCR2	SCAPER	PPIL1	TUB	SMG9	RDH12	SLC12A2	IMPG2	ADSL	ATP1A3	GRIA3	SPR	GTF2IRD1	PRKRA	GNS	PMM2	PEX19	PRKCG	DKK1	KDM1A	KCNQ2	NUP62	SUMF1	BCS1L	PINK1	CLTRN	ABCC8	MTFMT	KIAA1549	PSAT1	GLUL	ELOVL1	RARS2	SEC31A	NEK1	GTPBP2	NEK2	NDUFAF4	KNL1	IBA57	MPLKIP	ZC4H2	TBCD	SLC39A14	GRIN1	TH	DDC	VWA3B	RFC2	FANCD2	TBL2	ACOX1	MT-ND4	GTF2I	WWOX	CDHR1	SIK1	SLC25A12	PEX12	ISCA1	NTRK2	ARL6	STX1A	AUTS2	VAC14	DARS1	LRAT	DNAJC30	IFT88	MT-ND2	ADGRG1	NDUFS1	IER3IP1	COQ5	CNGB1	DENND5A	TLR3	CAV1	RNF220	H4C5	TACO1	TRMT5	IL12A	ZFR	AP4M1	TARS1	CFAP418	IRF2BPL	RFT1	CDC40	PEX2	ATXN7	ZNF408	TNR	MBOAT7	PKDCC	RAB3GAP2	ABAT	ERCC2	PEX13	NDUFAF6	CCR1	REEP2	CADM3	SLX4	CA8	CTNNA2	PLXNA1	GTF2IRD2	LIMK1	FANCL	MSL3	RHO	SLC2A3	CEP152	CHP1	HIBCH	IDH3B	ATP5MC3	DHX38	TMEM270	MRPS34	MAPT	WLS	EMILIN1	METTL5	L1CAM	PIGP	AIMP2	ABHD16A	MAB21L1	ECHS1	COX4I1	UBAC2	POMT2	TFG	KCNJ18	RAD51	TTBK2	FAS	PDE8B	VPS11
HP_BRISK_REFLEXES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRISK_REFLEXES	COX5A	ELN	AASS	WDR4	GLYCTK	SPTBN1	GBA2	SLC16A2	COG5	IER3IP1	COQ5	SMG9	SLC39A14	RNF170	ALDH18A1	SPG11	H4C5	COQ8A	FUCA1	PPIL1	VRK1	FBLN5	ANO10	COX10	REEP1	MT-TL2	ADSL	PIGA	NDUFS8	WDR62	LETM1	MSTN	ATP13A2	PAK3	GNS	CAMTA1	CDC40	SLC6A5	PEX19	GCH1	NFIX	FTL	NR4A2	MT-TL1	DLAT	CNP	MT-TN	ATG5	TRMT10A	SPAST	ERCC1	CHMP1A	PKDCC	MRPS25	ELOVL1	GEMIN5	BCAT2	JAM2	NDUFA4	SURF1	GTPBP2	GLE1	PLA2G6	CADM3	PARK7	PPP1R15B	SPTLC1	C19orf12	ALS2	TBCD	SCN1A	FUS	TH	SET	HARS1	BSCL2	PEX16	TUBGCP2	PMPCA	SLC1A4	CARS1	PITRM1	TMEM106B	PRR12	TSPOAP1	SIGMAR1	POU4F1	IMPDH2	VCP	LYRM7	GRM1	DARS1	EXOSC9
HP_FACIAL_DIPLEGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_DIPLEGIA	KBTBD13	KLHL41	YME1L1	TK2	CRPPA	SLC12A6	VCP	SLC25A4	ADGRG1	NEB	SRPX2	POMT1	GLE1	SCO2	SLC52A3	RYR1	DMPK	FKTN	TPM3	ACTA1	TTN	ADCY6	TPM2	LMOD3	SOST	KLHL40	CNTNAP1	ABCA1	FKRP	ZFHX4	RRM2B	CRYAB	POLG2	MPZ	MYPN	SHMT2	PI4KA	SPEG	CFL2	SUCLA2	TWNK	POLG	COL25A1	MTRFR	BIN1
HP_SLURRED_SPEECH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLURRED_SPEECH	POLG	SLC1A3	P2RY11	GRIN2A	MOG	ATM	DNAJC6	CTSH	CA8	ATP6V0A2	ATXN1	PRNP	MT-TK	HLA-DQB1	LINGO1	ATP6AP2	TBC1D2B	MAPT	ZNF365	GALC	SPG7	SPTBN2	ANO10	NEU1	ABCD1	MYORG	SETD2	EZH2	FASTKD2	KCND3	SPART	ITPR1	PODXL	CWF19L1	GLB1	KCNA1	TNFSF4	SYNJ1	HLA-DRB1	PIDD1	VPS13A	HCRT	ACOX2	DARS2
HP_MEGALENCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEGALENCEPHALY	FGF8	DLL1	TSC1	FOXH1	PIK3CA	STRADA	PTCH1	CRADD	CCND2	SMO	ASPA	TDGF1	NODAL	HEPACAM	NRAS	DEPDC5	PIK3R2	TSC2	DISP1	NPRL3	NPRL2	MTOR	FGFR2	AKT3	TBC1D7	KRAS	SMS	IFNG	HERC1	SIX3	GLI2	FGFR3	HRAS	RAB39B	STIL	ZIC2	CDON	TGIF1	MLC1	PTEN	GAS1	SHH
HP_PLAGIOCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PLAGIOCEPHALY	EIF5A	ADAT3	TBC1D24	PRKAR1B	PCGF2	MN1	TP53RK	ZNF292	NLGN4X	PHF21A	CLCN3	FBXL4	ZBTB20	CDC42BPB	SPTBN1	FGFR2	ERMARD	UGDH	STXBP1	DYNC1H1	RNASEH2A	PRUNE1	ZNF699	FGFR3	RNASEH2C	MYMK	PPP2CA	PIGY	BMP4	PPP3CA	MEG3	HERC2	CHAMP1	RNU7-1	CYFIP2	SALL4	CAMK2A	PIGV	PIGL	LMX1B	PPP2R1A	RAC3	DPYSL5	COL11A2	ALG12	DLK1	ARID1B	KIDINS220	H3-3A	MADD	TWIST1	COL11A1	RAC1	ATP2B1	INPP5E	FOCAD	PIGA	EFNB1	CCDC47	CHSY1	ZIC1	MED12	NALCN	KAT6A	SMARCA2	ADARB1	UNC80	LSM11	SLC26A2	PGAP2	CDK13	USP7	MAPK1	PIGQ	RNASEH2B	AFF4	ARX	KRAS	NRCAM	PKDCC	H3-3B	NRAS	KMT2C	PPP1R21	GRIA1	CHN1	FAM20C	SMC3	FBXO11	POLR2A	AGO2	SCYL2	MESD	ERGIC1	B3GALT6	PIGW	TBCD	TCF12	ALX4	PPP2R5D	TCF20	IFIH1	DHX37	PGAP3	HRAS	CASK	ROBO3	COL25A1	MED13L	SET	RTL1	MBTPS2	SAMHD1	PIGO	ADAR	WDR35	NEPRO	BLTP1	DPYS	TUBB3	EMC10	NONO	HNRNPH1	ATP6V1B2	TREX1	SUPT16H	EHMT1	ADNP	FKTN	HEPHL1	NFIX	MAFB	CA2	MAF	WBP11	ARID2	CNOT3
HP_HOLOPROSENCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HOLOPROSENCEPHALY	ZIC2	CSPP1	SHH	SEMA3E	BUB3	TGIF1	CEP57	HOXA2	RPGRIP1	OTX2	PTCH1	TXNDC15	FKTN	B9D2	SUFU	RTTN	CHD7	STAG2	TCTN2	CNOT1	GPKOW	PLCH1	TCTN3	TMEM107	GLI3	PROP1	FGFR1	SALL1	GLI2	DHCR7	TMEM67	DISP1	CDON	RB1	BUB1B	SIX3	MTHFR	NODAL	RAD21	MKS1	TCTN1	TMEM231	SEC31A	GMPPB	PPP1R12A	TRIP13	POMT1	TDGF1	FGFR3	CEP290	FKRP	VANGL2	FOXH1	L1CAM	POMT2	LHX4	SMC1A	C2CD3	TMEM237	TMEM216	PRRX1	B3GALNT2	HESX1	GAS1	B9D1	WDR81	SOX2	POU1F1	CILK1	CC2D2A	FOXA2	LARGE1	DLL1	POMGNT1	FGF8	BUB1	RPGRIP1L
HP_NYSTAGMUS_INDUCED_HEAD_NODDING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NYSTAGMUS_INDUCED_HEAD_NODDING	TMEM270	DNAJC30	BCL7B	BUD23	CLIP2	MLXIPL	GTF2IRD2	LIMK1	VPS37D	GPR143	FKBP6	GTF2I	NCF1	METTL27	GTF2IRD1	RFC2	STX1A	BAZ1B	ELN	TBL2	EIF4H
HP_CALVARIAL_SKULL_DEFECT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALVARIAL_SKULL_DEFECT	PLEC	EOGT	FRAS1	LBR	WNT7A	NOTCH1	ALX4	HSPG2	GRIP1	ITGB4	RBPJ	ARHGAP31	DLL4	PAK2	PIGG	LETM1	DOCK6	COL18A1	CPLX1	UBR1	BMS1	NELFA	CTBP1	FREM2	UBA2	NSD2
HP_CRANIOSYNOSTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRANIOSYNOSTOSIS	TWIST1	CTSK	AASS	IFT122	IL11RA	CTCF	FGFR2	FGFR1	ZNF699	FLNA	ZIC1	MEGF8	BMP4	PPP3CA	CCBE1	ORC1	ADAMTS3	RNU12	SETD2	EXTL3	FAT4	GNPTAB	TGFBR1	IFT140	CDT1	TCIRG1	DPH1	TBX1	TCF12	SPECC1L	ORC6	ENPP1	SEC24D	RSPRY1	GP1BB	IPO8	SLC39A8	GLI3	EFNB1	LIG4	H4C9	ZEB2	TGFBR2	B4GALT7	RREB1	KAT6A	WDR35	AHDC1	CEP57	PCNT	SKI	GLIS3	KRAS	FGFR3	SMAD6	NFIX	GTF2H5	ORC4	DSE	ALPL	CDC6	PSAT1	RAB23	TRAIP	CYP26B1	MASP1	YY1	SMO	MPLKIP	SCUBE3	STAT3	COLEC11	BPNT2	IL6ST	ALX4	WDR19	HNRNPK	RECQL4	GTF2E2	IFT43	APC2	TMCO1	CDH11	FLNB	GPC6	PIGO	SETD1A	MED12	SLC2A10	ATP6V1B2	GMNN	CHD5	CEP120	CENPE	P4HB	DPF2	MID1	CENPJ	MAF	MAN2B1	PPP1CB	MYH3	KPTN	TBC1D24	ERF	ESCO2	ERCC3	NSUN2	SH2B1	TNFSF11	LRP5	FBN1	RTTN	HIRA	SLC25A24	CDC45	COLEC10	ATR	SLC35A2	RAC3	KRT5	CWC27	NUP85	POR	TARS1	SLC12A6	DMP1	NSD1	DNMT3A	IFT52	ARVCF	DONSON	PTEN	CHST3	SCARF2	LTBP1	PRIM1	CLCN7	CARS1	NFIA	B3GLCT	PIGT	COMT	IRX5	AKT1	ERCC2	RNF113A	SEC24C	SON	TANC2	ATRIP	SMAD3	SNX10	KANSL1	B3GALT6	PLK4	HUWE1	PHEX	MAP3K7	LEMD3	MSX2	EXOC8	RBBP8	CDKN1C	TLK2	JMJD1C	OTUD5	B3GAT3	CHST14	POLA1	CCNQ	KRT14	UFD1	CEP152
HP_ABNORMAL_JOINT_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_JOINT_MORPHOLOGY	ARSB	COL2A1	VPS37D	MECOM	LRP4	GDF5	BMP1	CTCF	PI4KA	GJB2	HS2ST1	PLCH1	MFN2	UBA1	ZNF699	RNASEH2C	NEFL	PTPN11	TNFRSF11B	DNASE1	RYR1	PRKAR1A	FZD2	CDT1	DPYSL5	MEGF8	SIX3	TRPV4	SIX1	TCF12	SLC35A3	SETD2	FBXW11	SHH	RASGRP1	GP1BB	SLC39A8	IL1RN	DYNC2H1	TPM2	NOP10	ZIC3	KLC2	CHSY1	MECP2	ITGA6	ANKRD11	TGFBR2	IARS2	COL6A1	CCDC8	DLL1	RINT1	ZNF407	HNF1B	NIN	COL6A2	NLRP3	RNASEH2B	RPGRIP1L	JAG2	KRAS	NRCAM	POLR3A	CDC6	LZTR1	BRCA2	POMT1	H3-3B	ERCC5	DHODH	NADSYN1	DVL1	LRBA	TRPS1	CHN1	WNK1	HGD	MAP3K20	KIDINS220	RPL26	TWIST1	PRG4	MAFB	MYL2	BPNT2	NLRP12	PTH1R	C12orf57	FKBP6	SLC12A1	TRIM2	KMT2A	HSPG2	KDM5C	COG1	DYM	NTRK1	SMARCAL1	CHD7	FGF8	SOX5	CYP7B1	ACP5	ATP6V1A	CDC73	IRF6	GNB1	RECQL4	GLI2	IL2RA	AEBP1	BICD2	FGF9	EFL1	ARF1	FLT4	IL12A-AS1	SCN1B	GNA11	FBN1	TOM1	TFR2	IGKC	EXOSC3	FLNB	FGFR1	OPA3	MYH7	ABCC9	CUL4B	EZH2	KDM6A	GABRD	STXBP1	ZIC2	PTDSS1	SHOX	DDB2	GSC	KMT2D	MMP14	ERCC2	UBE3B	THOC2	CBL	FGFR3	ACTB	SLC25A1	UMOD	WNT5A	ALX3	KRT9	B3GALT6	TGDS	GPC3	COL9A1	FBLN1	DAG1	NR4A2	SELENON	TBX1	EMG1	CANT1	ANKH	POLR3GL	ASXL1	SERPINF2	BMP2	ALDH18A1	DOK7	WASF1	NOTCH2	PRKCD	FLI1	HLA-B	EIF4H	WAS	MCTP2	HAMP	CAV1	DYRK1A	NXN	ITGA7	DLL3	BRAF	COL1A2	ANK1	IFITM5	SRCAP	SDHD	AP4E1	SPART	THRA	COMP	MASP1	MMP13	LMNA	DYNC2I1	STUB1	PEPD	SYNE1	FDFT1	DISP1	ESCO2	RPS15A	P4HTM	IKBKG	PRKACB	BMPR1B	FCGR2B	HOXD13	GLRB	STIL	FGFR2	POLRMT	TMEM43	SHOC2	IL10	TRIP11	NF1	MKRN3	COL9A2	TNXB	MEGF10	GLI3	MAP3K7	MEG3	F13B	GPKOW	MVK	EMD	OCRL	CTBP1	RRAS2	METTL27	DVL3	CNTNAP1	CD244	AP4B1	ANO10	INPPL1	GLA	TONSL	SMOC1	CCDC47	WDR62	TNFRSF1A	IL36RN	COL7A1	PEX1	GDF6	SLC5A7	BHLHA9	GLI1	GRIA3	SLC4A1	LMBR1	CHMP1A	GMPPB	FLNA	MPZ	SMAD3	NCF1	MYH3	SUZ12	FBN2	NUP88	PTCH2	EFEMP2	ABCD1	SLC6A9	COL11A1	IFNGR1	PIGV	FKBP10	SMAD4	SPP1	PTPN22	KAT6B	TMCO1	LMAN1	HACE1	CD247	MUSK	HDAC8	IFT172	PIK3R2	IFIH1	GPC6	FANCI	SUFU	MLXIPL	KRT5	HERC2	UGP2	PHGDH	GDF3	MAPK1	PQBP1	ASAH1	SKI	LPIN2	WDR19	ROR2	ITGB4	ERCC3	FGB	NUP133	NEB	PTRH2	ALG2	RNASEH2A	MKKS	CEP85L	COLQ	SLC18A3	PRMT7	HIRA	GLRA1	HOXA11	ATP5F1D	EIF4A3	SALL4	C4A	FKRP	IL23R	ARVCF	ALX1	SCN1A	FANCF	RPL13	PAFAH1B1	HOXA13	CARS1	NUP107	PITX1	GNE	CRLF1	CTC1	SMO	KLHL41	AP2S1	KMT2B	DPAGT1	TNNI2	DPM1	BANF1	COL10A1	MAP2K1	GNPTAB	SCN2A	RNF113A	CLCF1	TDGF1	LAMB2	LIFR	TPM3	UBE2A	FANCM	NSD1	PTEN	ARL6IP1	RNF168	C19orf12	UBE4B	STAT3	MEFV	FERMT1	PIGA	ATP6V0A2	FXYD2	NPR2	ADA2	MESP2	POR	SAMHD1	PPP2R5D	USP9X	AIFM1	GPHN	GALNS	TMEM218	SLC34A3	B3GAT3	FANCE	IGLL1	PTCH1	AP4S1	EFNB1	CHST14	ELP1	LARGE1	HLA-C	TP53	TMEM67	COL5A1	EXTL3	WIPF1	SLC40A1	FANCB	HLA-DRB1	C2orf69	HTT	ARSL	HES7	NHP2	IDS	SAMD9L	ACTA1	GAN	CASZ1	IPO8	SPG11	IDH1	ORC1	F8	PLOD1	COL11A2	CTNS	TRIM8	BTK	SLC12A2	LONP1	TBC1D7	ARFGEF2	MMP2	CHEK2	DMD	EXT1	GJA1	RREB1	ALG3	RAG2	RIT1	POMT2	PIEZO2	HS6ST1	CYP19A1	SH3KBP1	RTN2	DDR2	FOXH1	ASXL2	MTX2	CYP26B1	CHRNG	LOXL3	YY1	NALCN	TRAPPC12	PRDM16	TGFB2	KNSTRN	SH3PXD2B	COLEC11	RAD51C	SERPINE1	XPC	SCN9A	PCNT	DNAJB11	RTL1	GJC2	CYP27B1	WRN	PRKG2	LACC1	FANCA	ATR	SLC2A10	SCARB2	ZC4H2	CTDP1	CEP120	MYBPC1	ENPP1	ATAD1	PAX3	MYH14	COL6A3	SOX9	ATL3	MYL1	BMP6	SPTBN1	SLC16A2	PWRN1	SPTBN4	MORC2	EXT2	RTTN	ALAD	GPX4	FA2H	CDC45	CCR6	ACAN	KLHL9	PRPS1	SLC6A5	PWAR1	GMNN	ATP7A	OSGEP	SPRED2	GABRG2	OFD1	MEOX1	COL9A3	CSGALNACT1	DMP1	MBTPS1	CHAT	NOD2	EPCAM	PIGY	TCTN3	LBR	ERCC6	PIGT	MATN3	MMP23B	F10	POLR1A	HJV	AFF4	ELN	ERCC1	SF3B4	SVIL	HBB	AKT1	FUZ	EP300	IRAK1	IFT57	RB1	MYOT	ERLIN2	RSPO2	MAGEL2	NAA10	ERCC4	KIF5A	TBC1D2B	G6PC1	ATP7B	SIL1	ERMARD	COX8A	LFNG	TLK2	CLCN7	SMARCA2	MUC1	BRF1	HCN1	PUF60	GPR101	P4HA2	ABCG8	RSPRY1	ANKLE2	HPRT1	FGA	ADAT3	SMAD6	F13A1	CLCN3	AFF3	COL5A2	COG5	PDGFRB	POP1	HPGD	CCBE1	FAT4	FBLN5	SPEN	ECE1	SLC26A2	SMG9	PNPT1	TBX3	SPTB	BAG3	TBX5	H4C9	MBTPS2	DKK1	FGF16	EXOC6B	PSMB9	HFE	EBP	IHH	COL12A1	ECEL1	VPS13A	GBA2	TMEM70	MAB21L2	PSAT1	TNNT3	SEC31A	NOTCH3	VPS13B	BGN	TREX1	NGLY1	DHCR7	PSMB8	MPLKIP	GDAP1	SYK	TBCD	LUZP1	PIK3CD	GLB1	ARPC4	SLC1A4	RAD51	GATA1	FLVCR1	PTPN2	TUBB3	NFIX	GTF2I	CNTN1	GHR	TMEM251	SLC22A4	UBE3A	NKX3-2	MYO9A	XYLT1	NEDD4L	GFPT1	RERE	BCR	ATP6V1E1	FAS	HYAL1	ELF4	ZIC1	GNPTG	RAB23	TELO2	COLEC10	MEN1	CDON	STAT4	LMX1B	UPF3B	RAC3	XPA	AP4M1	TARS1	SERPINF1	SOX2	MAN2C1	APOE	CHST3	FN1	NLRP1	ASH1L	SEC61A1	PLEKHG5	SHROOM4	LRRC8A	IRX5	GJB6	PKDCC	PYCR2	STT3A	COL1A1	CYP27A1	CADM3	DNAJC21	GTF2IRD2	PHEX	POLR3B	LIMK1	KIF7	PSTPIP1	OTULIN	MYD88	LMOD3	PIGL	LEMD3	MIF	IGHG2	TMEM270	LAMB3	KANSL1	KCNK9	EMILIN1	CHRNA1	L1CAM	SIN3A	TBR1	ALG14	DYNC2LI1	UBAC2	TGFB1	PIK3C2A	TNFSF11	GORAB	FKTN	HEPHL1	TRAPPC2	RBM8A	EVC	PRKACA	CD79A	CHRM3	ZBTB20	GPC4	MYH8	C1R	TGIF1	BMP4	NODAL	ADAMTS3	CAMK2A	SMAD2	SFRP4	FHL1	DCC	PUS3	ZEB2	B4GALT7	OBSL1	CFL2	UNC80	KRT1	VPS33A	LARS2	PALB2	DSE	TUBA1A	HK1	CREBBP	DDRGK1	VWF	NOG	TOR1AIP1	KRT16	AARS1	GALC	PIK3R1	TBX22	ERGIC1	FGF10	MKS1	IL6ST	RUNX2	CSPP1	POFUT1	MAD2L2	SLC37A4	MCOLN1	PMP22	MACF1	BRIP1	RMRP	PEX6	EYA1	MAN2B1	SRY	IGHMBP2	RAD21	LETM1	DHX16	SNORD115-1	SLC52A3	MAF	LAGE3	SLC12A3	SPRTN	RIPK4	UBR7	IL12B	MLX	SRP54	SALL1	PLEC	MADD	GRB10	UFSP2	PFKM	CDH11	F9	PYCR1	KIF22	FLNC	LSM11	WDR35	MAPK8IP3	VAC14	BAZ1B	ZNF687	F2	NRAS	SEC24C	WDR73	SDHAF1	SIGMAR1	FGF13	SMC1A	KLRC4	THSD4	ASPN	PRR12	KIF1A	IRF5	HNRNPH1	ATP6AP2	SYT2	RAF1	ACVR1	FANCC	ARNT2	ANKRD55	PLAU	RNU4ATAC	DNASE1L3	BRD4	GCDH	CENPT	COL3A1	MMP9	F11	CDH3	RAB18	NANS	IFT52	BCOR	COL27A1	TIMM8A	IGF2	SSR4	F7	STAG1	SGCA	SPTA1	IL6	DYNLT2B	ORC6	WNT4	IL2RB	FGFRL1	EPB42	NDUFS8	CPT2	OSTM1	GNAS	MRAS	IRF4	CHD4	ALPL	GTF2H5	AP3B1	WNT7A	MAP2K2	ERAP1	PPP1CB	VANGL1	BCL7B	TPRKB	KY	ZFYVE27	HOXD10	CRKL	RPL10	ADGRV1	SLC35D1	FASLG	PORCN	TGFB3	SOS1	PSENEN	DKC1	DONSON	RAG1	CRTAP	BICRA	ARSK	XRCC2	LRP6	HEATR3	SLC10A7	TBX2	ANTXR2	ZNF469	TWIST2	PERCC1	RAB3GAP1	REEP1	DYSF	FCGR2A	C18orf32	TFAP2B	PRKCZ	SETBP1	SDHB	TMEM222	EVC2	MYO18B	SBDS	DLK1	DNMT3A	ALG9	FGD1	NFKBIL1	DCHS1	BUD23	CD79B	POU3F4	SNAP25	SELENOI	PYROXD1	TBX4	CTLA4	FIG4	MIA3	SIX6	LMBRD2	HINT1	GAS1	TTC26	SCYL2	SDHA	ACTG2	PPP2R3C	SERPINH1	DNASE2	PEX16	ADAR	TBX15	CD40LG	ORC4	IDUA	JMJD1C	RIPPLY2	CAPN1	COPA	FANCG	RAPSN	DHCR24	ANAPC1	FRZB	NONO	BTNL2	KRT14	WBP11	ATL1	UBA2	CYP3A4	CUL7	KIAA0753	UBE2T	TP63	TMTC3	TCF3	TLR4	FBXO28	KIAA0319L	FBXL3	STX1B	TF	TIMM22	CCN2	ZMPSTE24	MED12	KAT6A	KCNJ1	RRAS	KDM5B	CD96	LAMA5	CHUK	GFM2	ZDHHC9	IGHM	ERLIN1	NT5C2	PSMD12	PLA2G6	GCM2	MET	AGA	KIAA0586	HDAC4	ASXL3	HRAS	GTF2E2	APC2	ADAMTS2	VCP	PDPN	INPP5K	ANO5	CHST11	GLE1	IMPDH2	CLIP2	HACD1	RFWD3	LAMA2	CYP2R1	CPLX1	CENPJ	BLNK	POGLUT1	GNB2	CLCN5	MIR140	CFI	NSD2	ALG12	BRCA1	CLCNKB	NDUFAF6	SCARF2	FGG	MAP1B	GBA1	LTBP1	RETREG1	PSAP	B3GLCT	ATRX	SPTLC1	COMT	BPTF	FUT8	CHRNB1	DCLRE1C	OCA2	CCN6	COL25A1	CBS	SLC29A3	GGCX	GUSB	ZPR1	UROS	SNRPB	AMER1	MTHFD1	GABRA1	VARS1	VDR	ITCH	ABCC6	LMNB2	DSTYK	SPTLC2	MYOD1	RNU7-1	SLCO2A1	COL13A1	TGFBR1	SYNE2	UCHL1	ARID1B	CIITA	SIK3	AIP	SLC39A13	GTF2IRD1	GNS	NTN1	GZF1	SRD5A3	MYL11	ACTG1	SLC34A2	SOD1	SPAST	CHRND	MACROH2A1	VAMP1	PCDH19	ALPK3	SLC39A14	RFC2	FANCD2	WDR4	TBL2	GEMIN4	F5	NEPRO	POLR1D	KCNAB2	TFE3	TFAP2A	PEX2	SMARCAD1	ADAMTSL2	STX1A	AUTS2	DNAJC30	NPAP1	FOXP3	ASPH	NIPBL	YWHAE	TNFAIP3	STAG2	SNORD116-1	SLC35A2	IL12A	SOS2	BMPER	RAB33B	TOR1A	SMC3	EIF2AK3	MCFD2	SF3B2	GCH1	EED	RASA2	CAPN3	ZSWIM6	NIPA1	LGI4	RAB3GAP2	PLOD2	SATB2	TP53RK	CCR1	SLX4	AGRN	SLC25A46	PEX5	CASP10	PSMB4	PLOD3	FANCL	ADGRG1	NSDHL	MED25	DNAL4	APC	CLTCL1	TBX6	UFD1
HP_ARTHRITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTHRITIS	DNASE1L3	FCGR2B	NLRP3	HPRT1	WIPF1	COL1A1	COL2A1	HLA-B	C2orf69	ACP5	COL3A1	IL10	UFSP2	IDS	ANKH	COL9A2	UBA1	TCF3	RNASEH2C	TLR4	HPGD	RNU7-1	CANT1	MVK	SLCO2A1	TNFRSF11B	HFE	DNASE1	SLC26A2	IFIH1	SPTA1	CD244	SMAD2	IL6	TBX1	STAT4	GLA	RASGRP1	BTK	CIITA	GP1BB	IL2RB	AIP	SPTB	TF	EPB42	GJB2	COL11A2	HLA-DRB1	TNFRSF1A	IL2RA	IL36RN	ATP7B	RREB1	GNAS	CLCN7	PSMB9	RAG2	IRF4	EPCAM	COMP	PTPN22	PRPS1	SLC4A1	HNF1B	VPS13A	RNASEH2B	ERAP1	SH3KBP1	IGHM	SMAD3	LRBA	TREX1	FGFR3	ANKRD55	HOXD10	HGD	SYK	PIK3R1	PRG4	PTPN2	FGF10	IFNGR1	MEFV	KNSTRN	PIK3CD	NLRP12	AGA	COL11A1	SPP1	FASLG	WAS	DNAJB11	TRPS1	TGFB3	CD247	CTLA4	POFUT1	FBN1	SLC37A4	PSENEN	LACC1	MMP14	GHR	TRAPPC2	SLC22A4	GDF5	KRT5	RAG1	SCARB2	IMPDH2	AEBP1	COL9A1	IL12A-AS1	LRP6	ASAH1	LMNA	TOM1	TFR2	IGKC	MYH14	COL9A3	FOXP3	BMP6	CCN6	COL5A2	BLNK	CCN2	FAS	RNASEH2A	POGLUT1	EXT2	PERCC1	ELF4	MIR140	HIRA	MMP13	PRKCD	ACAN	IL12B	FCGR2A	MLX	CAV1	CFI	TRPV4	C4A	IL12A	SLC40A1	IL23R	CLCNKB	CCR6	ARVCF	APOE	UMOD	PFKM	NOD2	NFKBIL1	F9	GBA1	PSTPIP1	LBR	FGFR2	ZMPSTE24	IRF5	GCH1	SEC61A1	CD79B	KIF22	LSM11	NR4A2	MMP2	MATN3	LRRC8A	COMT	PHEX	HJV	GJB6	ZNF687	STT3A	SEC24C	IRAK1	CCR1	RNF168	DCLRE1C	NTRK1	CASP10	PSMB4	MYD88	DDRGK1	LEMD3	G6PC1	MIF	ADA2	SAMHD1	KLRC4	IGHG2	ADAR	EXT1	OCRL	THSD4	ANK1	ASPN	EMILIN1	MUC1	JMJD1C	COPA	IGLL1	UBAC2	GPR101	P4HA2	FRZB	COL5A1	HLA-C	LMX1B	F8	MTHFD1	ABCG8	UFD1	CD79A	SLC12A3
HP_RHEUMATOID_ARTHRITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RHEUMATOID_ARTHRITIS	IGKC	PTPN2	CD247	CIITA	IL2RB	ACP5	LACC1	NFKBIL1	IL2RA	SLC22A4	DCLRE1C	GCH1	IMPDH2	NR4A2	STAT4	PTPN22	HLA-DRB1	MIF	IL10	IGHG2	CD244	ANKRD55	IL6
HP_JOINT_DISLOCATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_DISLOCATION	UBA2	EXTL3	CHRM3	SLC40A1	ZIC2	KAT6B	IARS2	FANCB	VPS37D	GDF5	BMP1	CUL7	PLCH1	UBE2T	MYH8	C1R	ACTA1	TGIF1	TMTC3	FLNA	IPO8	NODAL	ORC1	CANT1	TNFRSF11B	GNPTAB	RECQL4	PLOD1	RYR1	FBXL3	PRKAR1A	FZD2	CDT1	DPYSL5	SIX3	ASXL1	ATP6V1A	SIX1	TRIM8	DHCR7	SLC35A3	TCTN3	SLC12A2	GLI3	ATP6V0A2	GP1BB	LONP1	SLC26A2	ARFGEF2	TPM2	ZIC3	TGFBR2	EXT1	B4GALT7	GJA1	RREB1	COL6A1	CCDC8	DLL1	OBSL1	CFL2	SKI	SMC1A	POMT2	GAS1	CD96	ORC4	HSPG2	COL1A2	PALB2	DSE	COL6A2	STIL	SHH	HK1	CREBBP	CDC6	MLXIPL	FOXH1	BRCA2	POMT1	FGF8	DVL1	CHRNG	TRPS1	LARGE1	PIEZO2	AARS1	ERGIC1	MAFB	COL1A1	TBX1	PPP2R5D	MYL2	COLEC11	BPNT2	IL6ST	FKBP6	HDAC4	RAD51C	TBX4	RUNX2	GTF2E2	COL12A1	MAD2L2	FANCA	INPP5K	ATR	COL6A3	CHST11	CDON	SLC2A10	GLI2	MACF1	CLIP2	HACD1	BRIP1	AEBP1	FIG4	KANSL1	ZC4H2	ARF1	GPC6	RFWD3	EYA1	ROR2	LMNA	DHODH	ATAD1	EXOSC3	SOX9	RAD21	RNU4ATAC	FLNB	LETM1	FGFR1	CPLX1	EBP	CSGALNACT1	ABCC9	FBN1	KDM6A	STXBP1	GNB2	CDC45	ADAMTS2	GSC	SLC6A5	KMT2D	NSD2	FBLN5	BRCA1	UBE3B	SLC25A1	CHAT	WNT5A	SCARF2	GMPPB	B3GALT6	TGDS	MAP1B	GPC3	LTBP1	CHST3	PYCR1	TBX15	PTRH2	KIF22	SELENON	PRKACB	VAC14	COMT	BAZ1B	ELN	ERCC1	AKT1	EP300	FUT8	SEC24C	GPC4	TPM3	NOTCH2	SHOX	FBLN1	FLI1	EIF4H	SIL1	XYLT1	NAA10	ERCC4	MAP3K7	SALL4	MCTP2	C12orf57	COL25A1	COL2A1	NXN	ITGA7	ERMARD	COX8A	LBR	OCRL	CLCN7	IFITM5	SRCAP	ALDH18A1	MYH7	THRA	PUF60	HNRNPH1	SYT2	SNRPB	SYNE1	COL5A1	DISP1	FANCC	ARNT2	ATP7A	DNASE1L3	BRD4	MAP3K20	GLRB	CLCN3	GCDH	COL3A1	BGN	AFF3	ANKH	COL5A2	DSTYK	EXOC6B	COL27A1	COL13A1	PTCH1	TGFBR1	CTBP1	SSR4	METTL27	DVL3	HPRT1	TDGF1	HDAC8	ORC6	ARID1B	FGFRL1	TONSL	SMOC1	SLC39A13	CCDC47	GTF2IRD1	YY1	MBTPS2	SLC5A7	GZF1	GTF2H5	WNT7A	FBN2	BICD2	ECEL1	CHRND	MAB21L2	BCL7B	SEC31A	MACROH2A1	NCF1	MASP1	VAMP1	MYH3	NGLY1	EFEMP2	MPLKIP	LMX1B	SLC6A9	TBCD	HGD	RFC2	FANCD2	TBL2	GEMIN4	HACE1	FKRP	NFIX	GTF2I	GLRA1	FHL1	IFIH1	FANCI	DONSON	TMEM251	TFE3	NKX3-2	GMNN	MYO9A	XRCC2	STX1A	VDR	DNAJC30	ERCC3	SLC10A7	NEB	NEDD4L	TNNT3	ATP6V1E1	NIPBL	OSGEP	ZNF469	MKKS	CEP85L	SLC18A3	YWHAE	HIRA	TELO2	HOXA11	COLEC10	STAG2	EIF4A3	NOG	RBM8A	TARS1	SMARCA2	ARVCF	ADAMTSL2	PTEN	ALG9	TOR1A	SMC3	EIF2AK3	FANCF	PAFAH1B1	LRP4	ZMPSTE24	CARS1	BUD23	DNAJC21	SNAP25	SMO	SF3B4	KLHL41	SHROOM4	PKDCC	PYCR2	ERCC2	RNF113A	CHST14	UBE2A	FANCM	PITX1	SLX4	AGRN	TTC26	SCYL2	GTF2IRD2	POLR3B	LIMK1	FANCL	USP9X	LMOD3	PIGL	NLRP3	TMEM270	CHRNA1	GPHN	JMJD1C	NSDHL	B3GAT3	FANCE	FANCG	OFD1	GORAB	APC	CLTCL1	PORCN	RAD51	UFD1
HP_CONGENITAL_HIP_DISLOCATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_HIP_DISLOCATION	CHRM3	MAP3K20	COL1A1	KAT6B	IARS2	CLCN3	ABCC9	COL3A1	ATP6V1E1	COL5A2	ACTA1	CUL7	ZNF469	MKKS	SLC18A3	YWHAE	WNT7A	TELO2	COL13A1	PLOD1	RYR1	KDM6A	KMT2D	ATP6V1A	SIX1	ALDH18A1	UBE3B	ATP6V0A2	LONP1	SLC25A1	PUF60	CHAT	ZIC3	GPC3	CCDC8	PAFAH1B1	OBSL1	PTRH2	SLC5A7	DNAJC21	SNAP25	SELENON	SHROOM4	KIF22	BICD2	ECEL1	FLNA	GPC4	TPM3	VAMP1	COL12A1	PIEZO2	NGLY1	FBLN1	AGRN	NAA10	PYCR1	TBCD	PPP2R5D	USP9X	MYL2	HDAC4	TPM2	ITGA7	HSPG2	GEMIN4	TBX15	MYH7	THRA	FHL1	NSDHL	SYT2	OFD1	RECQL4	SNRPB	HACD1	CLTCL1	FIG4	PORCN	MYO9A	EYA1	DHODH	MAP3K7
HP_LIMITATION_OF_JOINT_MOBILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITATION_OF_JOINT_MOBILITY	SCN1A	CHRNG	MECP2	SLC40A1	ARSB	KAT6B	COL2A1	VPS37D	MECOM	HSPG2	MATN3	BHLHA9	PI4KA	GJB2	HS2ST1	NDE1	APC	DEAF1	ZBTB20	LMNA	SHH	MYH8	IDS	FLNA	CASZ1	FBN1	ADGRG6	LEMD3	FBXO28	SETD2	EXTL3	F8	TNFRSF11B	HFE	GNPTAB	FGFR2	RECQL4	PLOD1	ALG1	STX1B	DPYSL5	ASXL1	UBA1	SFRP4	GLB1	NAGLU	SCN9A	ENPP1	PLA2G6	ZC4H2	SLC26A2	FHL1	SLC39A8	TGDS	GDF5	MMP2	DMD	NALCN	COL6A1	IDH1	TPM2	FGFR3	UNC80	SMC1A	GABRD	PIEZO2	DYM	ADAMTS10	MTX2	JAG2	BIN1	MYH3	TRPV4	DDR2	MLXIPL	ERCC5	DVL1	PCYT1A	FGF9	COL6A2	DST	HGD	ALOXE3	ERGIC1	PTPN2	COL1A1	PRDM16	MET	SPEG	SCUBE3	SH3PXD2B	MYL2	COLEC11	FKBP6	AGA	FLII	HRAS	PCNT	APC2	VCP	PDPN	SCN4A	MFN2	HNRNPDL	WRN	PTH1R	KIF1A	RAI1	ATR	ANO5	COL6A3	NEK9	GLE1	IRF6	GNB1	SGSH	GNAI3	IL2RA	CLIP2	HACD1	BICD2	USB1	GPC6	ZNHIT3	LAMA2	SCN1B	MAN2B1	ATAD1	ACTA1	IDUA	RAD21	TBX5	RNU4ATAC	ASAH1	MYL1	BMP6	GBE1	CSGALNACT1	OPA3	MYH7	FZD2	ABCC9	EZH2	PRG4	SPRTN	STXBP1	TNNT1	NDUFS3	PTDSS1	EXT2	ASPA	GNB2	ADAMTS2	MYBPC1	ERCC8	GSC	SLC6A5	MAFB	ATP7A	SPRED2	GABRG2	ADCY6	FKBP10	COL9A3	EPG5	ACTB	NSD1	TNNT3	WNT5A	SCARF2	SALL4	PITX1	CISD2	CHST3	PIGY	ERCC6	LMBR1	PTPN22	KIF22	B3GLCT	FLNC	SELENON	MMP23B	SYNE1	B3GALT6	BAZ1B	RMRP	ELN	ERCC1	SVIL	COMP	AKT1	CNTNAP1	ALDH18A1	CLCF1	FUZ	PRRT2	MYOT	ERLIN2	ALDH3A2	RSPO2	HLA-B	FLNB	EIF4H	L1CAM	OCA2	CCN6	CKAP2L	MAP3K7	TGM1	COL25A1	ADAMTSL4	ITGA7	IL10	CBS	EXT1	SLC29A3	LBR	OCRL	ASPN	IFITM5	GUSB	ABCA12	HCN1	SNRPB	P4HA2	PTF1A	TBX4	FDFT1	GABRA1	RSPRY1	EMD	ESCO2	P4HTM	CD247	BMPR1B	BRD4	ADAT3	ALOX12B	SMAD6	MAP3K20	TREM2	TNNI2	ITCH	TYROBP	GLRB	TMEM43	ACVR1	ANKH	PDGFRB	EXOC6B	LTBP2	HPGD	GPKOW	TTN	MVK	SLCO2A1	SPEN	SYNE2	METTL27	RAB18	PAX3	STAG1	CD244	SKI	HDAC8	PNPT1	TGFB1	CIITA	TBX3	TONSL	SUMF1	COL1A2	HLA-DRB1	GTF2IRD1	CPT2	GNS	GNAS	DKK1	COL11A2	KRT1	SRD5A3	MMP9	FGFR1	MYL11	WNT7A	COL12A1	FBN2	MAPK1	ACTG1	ECEL1	TBC1D20	KY	CHMP1A	SCN2A	SGCA	VANGL1	BCL7B	BGN	MACROH2A1	NCF1	CTNNB1	MASP1	GTPBP2	STING1	ANKRD55	SUZ12	PSMB8	RAB3GAP2	IQSEC2	GDAP1	PCDH19	LMX1B	SLC6A9	LUZP1	PNKD	PTPN11	GARS1	SMAD4	CD96	RFC2	ADGRV1	TBL2	TRPV3	IL2RB	INPPL1	MUSK	GTF2I	KRT83	TRAPPC2	STAT4	KCNAB2	MED12	SLC22A4	TFE3	UBE3A	ANTXR2	TFAP2A	HGSNAT	MAF	ADAMTSL2	STX1A	LIFR	LTBP3	NOD2	DNAJC30	SLC10A7	PERP	PLCB4	RERE	NIPBL	SMARCB1	ERCC2	COLQ	GLRA1	GNPTG	VPS33A	TELO2	HOXA11	COLEC10	DYSF	PRKCZ	SETBP1	TMEM222	NOG	POR	EMG1	PYCR1	SF3B4	PTEN	TOR1A	SMC3	NFKBIL1	FN1	PSTPIP1	ZMPSTE24	HERC1	BUD23	NFIX	EED	GNE	CRLF1	CAPN3	SHOX	NIPA1	BANF1	LGI4	PKDCC	PLOD2	RAB3GAP1	PPP1R12A	WFS1	NOTCH3	LAMB2	MMP13	TPM3	UBE4B	RYR1	SLC25A46	SCYL2	PIGA	PLOD3	GTF2IRD2	PHEX	LIMK1	USP9X	ATRX	MBTPS2	ACTG2	PPP2R3C	NPR2	SYT2	TBX15	TMEM270	KCNK9	B3GAT3	PLP1	PIK3C2A	GPHN	LARGE1	SLC25A19	IDH2
HP_LIMITED_ELBOW_EXTENSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_ELBOW_EXTENSION	COMP	TBX5	RNU4ATAC	ITCH	MATN3	DVL1	CLCF1	BGN	CSGALNACT1	OPA3	FZD2	ABCC9	NIPBL	RMRP	FLNB	EXOC6B	LMX1B	COL2A1	FGFR2	PPP2R3C	FLNA	NPR2	MMP13	STAG1	ATP7A	PCNT	SPRED2	LBR	CRLF1	SFRP4	COL9A3	KCNK9	POR	EZH2	FGFR3	DYM	HDAC8	FBN1	TONSL	WNT5A	GNB1	MED12	TFE3	B3GALT6	SF3B4	GPC6	FBN2	MAPK1	RSPRY1	ESCO2
HP_JOINT_HYPERMOBILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_HYPERMOBILITY	PROKR2	IARS2	VPS37D	YARS1	BMP1	CUL7	NSDHL	ZBTB20	DLK1	FBN1	TMTC3	RTL1	GAN	IPO8	ORC1	PLOD1	CAMK2A	ENPP1	CDT1	DPYSL5	COL18A1	C1S	ATP6V0A2	GP1BB	LONP1	ARFGEF2	TGDS	PTPN11	TET3	DBH	LIG4	TGFBR2	EXT1	ATP7B	RREB1	CREB3L1	COL6A1	CCDC8	MED12	RRAS	OBSL1	PCNT	SKI	TAF1	RIT1	NFIX	ORC4	COL1A2	HNF1B	COL6A2	CREBBP	POLR3A	CDC6	ZDHHC9	USP9X	MLXIPL	SP7	SATB2	VAMP1	PRDM5	RPS6KA3	SLC6A8	TRPS1	LOXL3	FGFR3	ADGRL1	ABCC6	YY1	COL1A1	RIN2	TBX1	TGFB2	SCUBE3	STAT3	PGM3	C12orf57	FKBP6	MAN1B1	HDAC4	HRAS	KMT2A	COL12A1	ATN1	FARSA	TNFRSF1A	COL6A3	SETD1A	MTM1	GNB1	GDF5	SLC2A10	CLIP2	AEBP1	COLEC11	KANSL1	PTEN	ARF1	PTHLH	PPP1CB	IL1RAPL1	ASAH1	CSGALNACT1	CAMTA1	CUL4B	EZH2	DHX30	PAK2	KDM6A	PTDSS1	NRAS	GNB2	ADAMTS2	CHAMP1	ATR	SEC24D	COL3A1	KMT2D	ATP6V1B2	LMNA	RNF13	CBL	NOTCH3	SLC9A6	FLNA	DNMT3A	MEG3	IL6ST	MAP1B	PYCR1	SRCAP	ANTXR1	COL5A1	CDK13	VPS13B	COMT	COL9A2	BAZ1B	RMRP	ELN	ZNF341	GNE	ATP6AP1	IFT122	EP300	ZMIZ1	SEC24C	LZTR1	WASF1	NOTCH2	PHF6	ATRIP	PIGG	SON	PAX2	EIF4H	PIGT	B3GALT6	RYR1	NFASC	SIN3B	SET	GJA8	HOXD13	ERMARD	PTPN22	RBBP8	LBR	BRAF	TLK2	OCRL	IFITM5	KCNH1	PRR12	SPART	RAB3GAP1	COMP	SIN3A	PUF60	KCNN3	KDM3B	SOS1	SHANK3	RSPRY1	ANKRD55	PHIP	ATP7A	P4HTM	CEP152	EIF5A	HYAL1	LMNB2	COL2A1	TRIP11	BGN	NF1	COL5A2	NSD1	TNXB	CTNND2	COL11A1	FBLN5	MAP3K7	FGD1	TNRC6B	TGFBR1	AMMECR1	RRAS2	METTL27	XYLT1	SATB1	ALDH18A1	ORC6	IL2RB	EFNB1	GTF2IRD1	H4C9	TENT5A	IL2RA	COL9A1	PIK3CA	WDR35	MRAS	PIK3R1	XYLT2	UBE3A	GZF1	OTUD6B	ECEL1	VPS37A	BCL7B	BCL11A	TRAIP	SEC23A	NCF1	FKBP14	GTPBP2	NGLY1	SUZ12	CANT1	CRKL	KDELR2	WDR19	RFC2	KDM1A	EFEMP2	KAT6B	TBL2	TMCO1	PTPN2	TGFB3	KRAS	COL9A3	CD247	NEPRO	ZNF469	FLNB	GTF2I	TAB2	TAOK1	ZMYM2	GMNN	MAPK1	KDM6B	CENPE	CENPJ	STX1A	CSNK2A1	DNAJC30	SLC10A7	NSUN2	CDC42BPB	PLAA	NEDD4L	BCR	NLRP1	DPYD	HIRA	H4C5	SLC35A2	STAT4	C1R	UPF3B	PPP2R1A	B4GALT7	SOS2	NUP85	TOGARAM1	IFT52	ARVCF	ADAMTSL2	CHST3	GDF11	SPRED2	SLC26A2	BUD23	EED	LRP5	LOX	DNAJC21	PYROXD1	RASA2	RAF1	SMOC1	PKDCC	RAB3GAP2	PYCR2	SEMA5A	GJA5	TANC2	P4HB	GORAB	TTC26	IFT43	PLK4	TCF12	GTF2IRD2	LIMK1	CDC45	ANKRD17	SLC39A8	PIGU	TMEM270	EMILIN1	MAMLD1	MEFV	PIGP	JMJD1C	PTCH1	B3GAT3	LMX1B	SMS	HEPHL1	WNT1	UFD1	NPR2
HP_HIP_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIP_DYSPLASIA	BRD4	UBA2	ARSB	COL2A1	KCNK4	SNRPN	PRDM5	ZBTB20	UFSP2	IDS	MKRN3	HIVEP2	CASZ1	EXOC6B	GLI3	IPO8	PIGY	GNPTAB	SPEN	CTBP1	KDM6A	PIGV	DVL3	MBD5	SLC26A2	FZD2	DPYSL5	SKI	MAGEL2	SHPK	HDAC8	HSPG2	SLC35A3	THOC2	SH3TC2	WNT5A	FGFRL1	LGI3	COL1A2	ATP6V1E1	CCDC47	TBX4	TET3	GNS	EXT1	COL10A1	SMARCA2	PCNT	SMC1A	COMP	TAF1	HNRNPR	NIN	CREBBP	NRCAM	POLR3A	TRAIP	MYH7	TTN	TRPS1	GLE1	NGLY1	VIPAS39	COL1A1	RAB11B	RERE	PRDM16	LUZP1	FARS2	VPS33B	ATAD3A	HNRNPK	TRPV4	BAP1	ZNF469	PDPN	ATN1	NFIX	INPP5K	ATP6V1A	KCNAB2	TFE3	GDF5	SLC2A10	HERC2	CCDC8	KANSL1	BICD2	ARSK	NDN	CENPE	CENPJ	HEATR3	OCA2	HOXA11	NPAP1	RAD21	DVL1	RNF13	LETM1	CPLX1	SNORD115-1	ATP1A3	GABRD	SRCAP	PWRN1	MED12	ADAMTS2	SNORD116-1	ATR	GLB1	PWAR1	PRKCZ	WDR19	KMT2D	GMNN	NSD2	PPP2R1A	SELENON	NUP85	ADAMTSL2	PUF60	DDB1	SMC3	PRIM1	COG6	SETBP1	MECOM	UMPS	PGAP2	MATN3	USP7	UNC45A	MMP23B	IRX5	ANKRD11	OGDHL	MRPS25	SH3PXD2B	PIEZO2	ATRIP	UBE4B	SIL1	WDR26	NIPBL	B3GALT6	PIGW	PLK4	USP9X	PGAP3	PPP2R3C	PIGO	RBBP8	MMP13	TRAPPC11	COL9A2	KDM3B	SIM1	LMNA	PIGL	ATP7A	CNOT3	EP300	CEP152
HP_JOINT_SWELLING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_SWELLING	NOD2	DDR2	ASAH1	SLC40A1	BMP6	CCN6	FGB	RB1	COL5A2	ANKRD55	ANKH	HLA-B	SYK	GNB2	PTPN2	HPGD	OTULIN	F8	SLCO2A1	TNFRSF11B	HFE	HLA-DRB1	PTPN22	TP53	MIF	HGD	IL10	ATP7B	CD244	IL6	OCRL	IL2RB	CIITA	MEFV	AIP	IL1RN	LACC1	FGG	ACP5	TRAPPC2	NFKBIL1	CHEK2	STAT4	TNFRSF1A	SLC22A4	COL1A1	IL2RA	GPR101	COL5A1	BTNL2	LPIN2	CD247	FGA
HP_JOINT_STIFFNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_STIFFNESS	BMPR1B	BRD4	TNNI2	MECP2	ARSB	COL2A1	VPS37D	GLRB	NDE1	TMEM43	DEAF1	LMNA	NSD1	CASZ1	LTBP2	LEMD3	HPGD	EMD	HFE	RECQL4	SPEN	SYNE2	METTL27	RAB18	PAX3	SLC26A2	CD244	SKI	HDAC8	HSPG2	GLB1	NAGLU	FBN1	CIITA	PLA2G6	TBX3	FHL1	SUMF1	COL1A2	TGDS	TBX5	HLA-DRB1	GTF2IRD1	GNS	GDF5	IDH1	DKK1	TPM2	SMC1A	COMP	MMP9	PTPN22	NALCN	ACTG1	ADAMTS10	TBC1D20	CHMP1A	MYH3	VANGL1	BCL7B	TNNT3	MLXIPL	ERCC5	MTX2	PCYT1A	FGF9	MACROH2A1	NCF1	GTPBP2	STING1	ANKRD55	SUZ12	FBN2	FLNA	RAB3GAP2	IQSEC2	PTPN2	COL1A1	IDUA	PRDM16	SCUBE3	LUZP1	PNKD	SH3PXD2B	FKBP10	FKBP6	AGA	FLII	SMAD4	HGD	RFC2	TBL2	IL2RB	INPPL1	PDPN	MFN2	WRN	GTF2I	KRT83	PTH1R	TRAPPC2	RAI1	STAT4	NEK9	IRF6	KCNAB2	SLC22A4	HLA-B	SGSH	IL2RA	CLIP2	ANTXR2	USB1	HGSNAT	ADAMTSL2	STX1A	MAN2B1	ATAD1	LTBP3	DNAJC30	RAD21	BMP6	CCN6	RERE	EZH2	PRG4	GABRD	ERCC2	NDUFS3	ASPA	GLRA1	GNPTG	ADAMTS2	VPS33A	MYBPC1	SLC6A5	PRKCZ	SETBP1	EPG5	ACTB	EMG1	SF3B4	PTEN	SALL4	SMC3	NFKBIL1	CISD2	ERCC6	PIEZO2	ZMPSTE24	BUD23	EED	MATN3	MMP23B	SYNE1	SHOX	BAZ1B	ELN	BANF1	AKT1	FUZ	RAB3GAP1	PPP1R12A	WFS1	MMP13	PRRT2	PITX1	ALDH3A2	NOG	UBE4B	EIF4H	L1CAM	NIPBL	GTF2IRD2	LIMK1	ATRX	ERCC1	ACTG2	ADAMTSL4	IL10	CBS	TMEM270	OCRL	FGFR3	ASPN	GUSB	TRPV4	GPHN	P4HA2	PLOD2	PTF1A	IDH2	NPR2	CD247	RNU4ATAC
HP_JOINT_LAXITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_LAXITY	MAN1B1	COL1A1	C12orf4	CTSK	IARS1	VPS37D	IFT122	CUL4B	B3GALT6	COL5A2	C1R	CHD7	LTBP4	ACAN	EXOC6B	KCNJ5	IPO8	NANS	ALDH18A1	MAP3K7	FGD1	SMARCB1	CANT1	LTBP1	SETD2	COL13A1	FBLN5	PLOD1	FBXL3	TBR1	METTL27	STAG1	COL2A1	ELN	ATP6V1A	TRIM8	ARID1B	TONSL	SMARCA4	SLC39A13	ATP6V1E1	CCDC47	GTF2IRD1	TENT5A	B4GALT7	SHOC2	NKAP	AHDC1	SMARCA2	RMRP	FGFR3	SKI	KISS1	SLC5A7	PMM2	PHIP	GRIA3	MAPK1	KCNJ2	DSE	COL6A2	GMPPB	CREBBP	HS6ST1	BCL7B	NPR3	SLC2A10	MLXIPL	SMAD3	DDRGK1	CEP104	NCF1	VAMP1	TRIP4	RUSC2	FLNA	AP1G1	EFEMP2	PPP1R15B	DUSP6	SLC6A9	ATP6V0A2	RIN2	TGFB2	UBR1	EN1	SIN3A	LONP1	FKBP6	RYR1	ARCN1	ALG2	RAC1	WDR11	EED	DLK1	RFC2	HNRNPK	MED12	IFT43	TBL2	GATA1	APC2	RTL1	ARID1A	COL12A1	ADAMTS2	TACR3	TUBB3	TAC3	GTF2I	AGA	GATAD2B	PDE4D	DEAF1	PEX2	MEG3	SMARCC2	CLIP2	GNRHR	FMR1	PIK3R1	AEBP1	MSTO1	MRE11	BICRA	USB1	MYO9A	SMARCD1	XYLT1	TMEM165	STX1A	SEC23A	ROR2	MAN2B1	PAX2	STAC3	COL6A3	DNAJC30	SOX9	CSGALNACT1	SPTBN1	PLAGL1	GFPT1	ATP7A	ERMARD	ASPH	ZNF469	STRADA	SLC18A3	OTX2	ADNP	GNB2	CDC45	AP4B1	TELO2	FKBP10	GLB1	DDX3X	POGZ	SOX4	SYT1	MAP2K2	SPRY4	MARS1	AP4M1	FARSB	H3-3A	THOC2	CBL	NSD1	SERPINF1	SLC25A1	FOCAD	PUF60	CHAT	ORC1	P3H1	DDB1	NSMF	TGDS	TCTN3	RAI1	HERC1	DCHS1	BUD23	KIF22	B3GLCT	SNAP25	PYROXD1	TRMT10A	HNRNPH2	POLR3GL	DPAGT1	BAZ1B	NOTCH2	COMP	ARID2	RAB3GAP2	GNRH1	FLNB	MKS1	SATB2	EP300	GJA5	TBL1XR1	PIK3CA	KDM6A	CHST14	MICU1	PIGG	PROK2	AGRN	KANSL1	EIF4H	GTF2IRD2	LIMK1	USP9X	MCTP2	SERPINH1	NPR2	DPF2	FGF8	DLG4	FAT4	RNF125	GJA8	WDR35	YWHAG	FGFR1	DCPS	KISS1R	SMARCE1	SOX11	TMEM270	COL1A2	HYMAI	SRCAP	RET	AP4E1	FGF17	PIGP	GALNS	NONO	ALG14	LRP5	HNRNPH1	AP4S1	TGFBR2	SYT2	PIGS	EFNB1	PTEN	COL5A1	PROKR2	SOBP	PORCN	TGFBR1	COL6A1
HP_ABNORMALITY_OF_THE_LIVER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_LIVER	ARSB	CTNNB1	VPS37D	BAP1	B2M	CTCF	BRCA1	RPGRIP1	LBR	USP53	LIPA	GNE	ZNF699	CPT2	RNASEH2C	GPI	SMARCB1	ADAR	SLC51A	AP3D1	TP53	PEX14	JAK2	SPOP	POMC	STEAP3	PEX10	RASGRP1	MSH2	GP1BB	GNAS	SLC39A8	IL1RN	RAC2	NOP10	ZIC3	TMEM67	TRAF3IP1	HADHA	SPTB	RFXANK	RINT1	HNF1A	MAGT1	ARID1B	HNF1B	FCGR3B	PKD1	RNASEH2B	POLR3A	TPO	CPT1A	ASS1	BRCA2	VPS4A	HSD17B4	NOTCH1	GBA1	LYZ	ACADM	FDX2	NEK8	ERCC8	FBP1	UGT1A1	APC	GATA6	FKBP6	NDUFA1	VPS33B	MT-ND6	IL12RB1	ABHD5	IFT43	NAGA	KDM5C	MT-ATP6	PEX3	COG1	KCNN4	HBB	SLC11A1	MPI	LTBP3	SLC4A1	IL2RA	MPC1	LARS1	ASL	CAVIN1	EFL1	ATRX	MYPN	TFR2	IGKC	SOX10	NR1H4	SLC25A4	SDHA	TNFSF11	NGLY1	FAH	GUCY2D	PKLR	GABRD	NCF1	RFX5	TCTN3	FUCA1	KRAS	ARSA	PKHD1	RHCE	FARSB	CFTR	TNNT2	SMAD4	INSR	TREX1	GPC3	XRCC4	TTC21B	SP110	TBX1	IDUA	HEXB	SLC7A7	TNFRSF11A	NDUFS1	MRPL3	KIT	BMP2	ALDOB	NCKAP1L	DNAJB11	BTNL2	LZTR1	VCP	NOTCH2	RPGRIP1L	MOGS	PRKCD	MAN2B1	ETFDH	PRSS1	EIF4H	MTRR	MMAB	CD28	CPOX	TTC8	PEX11B	SLCO1B1	IFT140	SNX10	HAMP	HBG2	WDR19	AIRE	SOX11	SDHD	HYMAI	ANK1	KCNH1	NDUFAF3	RFX6	JAK1	PIGM	CEP290	PEX1	DUOX2	FGFR2	TRAPPC11	APOE	PEX12	PEPD	GALT	ACAD9	FADD	GPIHBP1	EIF2AK3	COX15	CBS	NDUFS7	EPB41	HMOX1	ACP5	GATA2	TGFB1	STN1	CC2D2A	MEG3	MVK	C1S	CTBP1	KLF1	RRAS2	METTL27	TKFC	INPP5E	MT-ND5	TSHR	ADAMTS13	DCLRE1C	NDUFS4	CLEC7A	LMNA	STK11	CCDC47	TNFRSF13B	TNFRSF1A	PLEKHM1	IL36RN	UCP2	HADH	GLIS3	CPLX1	ADK	GCDH	PMM2	SNX14	PDX1	CP	ACVRL1	PLIN1	XIAP	GPR35	KIF20A	TKT	MLH1	CEL	ICOS	CDKN2A	NCF2	PPARG	SDCCAG8	TMEM216	AHCY	COG6	CIITA	RECQL4	PEX13	RABL3	DLD	UROD	INPPL1	CYP7B1	IFT172	MED12	SDHC	FANCI	ERCC6	MLXIPL	RNU4ATAC	NDUFB9	IL17F	B9D1	CR2	CEP120	AGL	ALG6	ENG	ASAH1	REST	BMP6	NDUFB3	LPIN2	PSMB10	TTC7A	PEX19	PLAGL1	PTRH2	HMBS	NDUFS2	CD55	TRIM32	RNASEH2A	NDUFAF5	DMPK	PEX2	KPTN	HIRA	DDOST	RHAG	MT-ND3	FLT1	SERPINA1	LMBRD1	SKIC2	RAG2	ARVCF	NSMCE2	CIDEC	ALAS2	ALG2	PALLD	FANCF	SLC2A2	HNRNPA1	FARS2	NEK1	TSC1	EPCAM	ABCG8	KMT2B	TYMS	DPM1	PARS2	GALK1	GNPTAB	SDHB	NFKB2	CD27	FANCM	NSD1	MMEL1	ABCD3	SCNN1A	UBE4B	STAT3	SASH3	ALG8	MT-TW	PEX26	PIGA	DEF6	ACADVL	CBL	DPF2	ADA2	SAMHD1	DGUOK	DPAGT1	NLRP3	GPD1	RIPK1	JAM3	ABCB4	GDF2	ATP8B1	PDE11A	GALNS	FANCE	IGLL1	BBS1	USP18	IGF2R	TRMU	SLC25A19	SLC51B	CDIN1	PSAP	BCS1L	SC5D	GUSB	EXTL3	COX5A	NDUFB10	SLC40A1	CTSK	FANCB	C2orf69	NSD2	PC	SLCO1B3	ABCC2	NHP2	IDS	IFNGR1	CASZ1	DYNC2I1	RAB27A	ACADS	TERC	AKR1D1	IGF2	PEX5	IL7R	C4B	CTNS	SLC25A15	GLB1	PCCB	RAG1	BTK	NPHP1	LONP1	FAM111B	BBS5	SCO1	RREB1	PARN	GCGR	CLCN7	CD247	RIT1	NUBPL	CYP19A1	FCGR2A	DYNC2I2	BLK	DYNC2H1	MTX2	CALR	B9D2	SOCS1	IYD	ABCC8	DHDDS	CYBC1	EARS2	TRAF3IP2	PDGFRA	SCYL1	PRDM16	MEFV	CPA1	RAD51C	SKIC3	CA2	ETFB	MFN2	COA8	NPM1	LRPPRC	FARSA	TET2	LACC1	FANCA	MARS1	ANKS6	SCARB2	SLC37A4	CD3D	NEU1	HMGCL	MT-TE	PEX16	ENPP1	SRP54	MT-CYB	TNNI3	BBS2	POU2AF1	F5	DCDC2	SPTBN1	SLC38A3	SLC16A2	AP1S1	KMT2E	STXBP2	IL21R	MPV17	PRF1	LYST	NDUFV1	WRAP53	PDE8B	TYMP	CDKN1C	SRSF2	CLPB	PNPLA6	FGA	PRKAR1A	TMEM126B	SBDS	MYC	VPS45	COG4	ARHGAP31	LIG3	PNPLA2	TCF4	MSH6	MT-TV	ITK	NDUFAF1	MMP23B	PPOX	HJV	ELN	GANAB	AMACR	AKT2	ATP6AP1	EP300	IL18BP	AP1B1	ABCG5	IFNG	SLC22A5	NAA10	CLDN1	ERCC4	BMPR1A	MET	BSCL2	SEMA4A	G6PC1	ATP7B	HSD17B10	RNF43	GYPC	NDUFS6	YARS2	BTD	SEC63	KCNN3	TF	MMUT	NDUFAF4	PTEN	ACOX1	FBN1	TRPV6	STX1A	KCNQ1OT1	PCK1	POLG2	IL2RG	RHD	BLM	IARS1	CTLA4	PKD2	COG5	FOS	SLC44A1	MYO5B	PHKA2	RFXAP	TJP2	BBS10	TMEM107	SLC9A3	SPEN	TNFRSF1B	SLC25A20	SKI	PI4KA	TRHR	MYRF	HPGD	LZTFL1	SUMF1	FAN1	SPINK1	OCLN	HLA-DRB1	PDGFB	PSMB9	HFE	MMAA	UQCRFS1	TINF2	PAX4	RTEL1	CD3E	VPS13A	HBA2	TMEM70	MRPS28	MMACHC	LETM1	DHCR7	PSMB8	SYK	LUZP1	TALDO1	SCO2	NDUFA6	TNFRSF13C	MKS1	DCTN4	RFT1	COG8	NPHP3	POU6F2	PIK3CA	PEX6	ATP11C	TRIM37	SLC25A13	STAT1	SPTA1	MT-ND4	GTF2I	MCM4	PROP1	PIEZO1	PHKB	KCNQ1	XYLT1	ALMS1	MT-ND2	RERE	HTRA2	FAS	IER3IP1	KRIT1	TSFM	LIG4	TBX19	PTPN22	SFTPA2	IFT74	SUCLG1	FOXRED1	KRT18	MADD	ALDOA	LRP5	ITCH	SPRED2	NLRP1	DNAJC21	FECH	LRRC8A	TERT	ARID2	CASK	TUFM	DYNC2LI1	SON	GLRX5	SURF1	CYP27A1	NAB2	HBA1	GBE1	NPC1	COG7	HSD3B7	GTF2IRD2	LIMK1	USP9X	IFIH1	PSTPIP1	LCAT	MT-TL1	RTL1	MIF	MS4A1	IGHG2	TOM1	TMEM270	LPL	SMPD1	RUNX1	SEMA4D	BICC1	TNFSF12	INVS	PYGL	PIK3C2A	NRAS	VHL	PRKCSH	IKBKG	EWSR1	ALG9	IQCB1	AGPAT2	DNAJC19	NBAS	CD79A	FOXP3	PMS1	ZFTA	POU1F1	YARS1	UQCRB	GPC4	STAT6	ETFA	MT-ND1	RMRP	SETD2	ABCB11	APPL1	NPC2	TCIRG1	ASXL1	CCDC115	NAGLU	PTPN11	DOCK6	SLC39A4	APOA1	PTPN3	SLC25A1	NFKB1	SLC10A1	VPS33A	POLG	PALB2	HAVCR2	CREBBP	DDRGK1	VIPAS39	PCCA	PIK3R1	PTPN2	SLC26A4	MCCC1	HNRNPA2B1	PCK2	RNU7-1	CTSC	ARID1A	REL	LHX3	MAD2L2	EDNRA	NDUFV2	IL12A	TRIP13	SGSH	CEP164	BRIP1	SUPT16H	MPL	CD19	JAK3	DPM2	CASP10	RHBDF2	GCK	PTPRC	SPRTN	ADA	INTU	ATP6V1B2	NEUROD1	WT1	RRM2B	DHFR	FLI1	RBPJ	PFKM	ZAP70	FLNC	SLC26A9	SCNN1B	TRIM28	ANTXR1	LSM11	TLR8	WDR35	MAPK8IP3	BAZ1B	CCDC28B	SEC24C	ATAD3A	XPR1	MICU1	DAXX	IL17RA	SH2D1A	FERMT3	PHKG2	SCAPER	MYD88	CASR	PCSK1	HK1	CAV1	FANCC	NCF4	ATP7A	SLC11A2	DNASE1L3	UNC13D	NKX2-5	TSHB	CARS2	IRF8	LMNB2	TCTN2	PRSS2	AUH	HYOU1	ATPAF2	GNMT	IL6	H19	CLCA4	POLD1	FGFRL1	EPB42	INS	G6PC3	OSTM1	MRAS	IRF4	IFT80	TFAM	JAG1	AP3B1	DLL4	FH	STX11	BCL7B	PPP1R21	CFAP418	DIS3L2	GFM1	USB1	FASLG	DKC1	BMPER	PIGG	LYRM4	NDUFS8	ALG13	SMARCC2	ACTG2	MRPS7	HGSNAT	TARS2	XRCC2	HMGCS2	TULP3	GAA	B4GALT1	C1QBP	NDUFAF8	JAM2	PERCC1	SLC29A3	SEC23B	G6PD	OFD1	PRKCZ	SETBP1	DZIP1L	LDLR	ABCA1	SOX4	MKKS	DLK1	KLF11	CYBB	FOCAD	HNF4A	SLC35C1	AGGF1	BUD23	NFS1	CD79B	RPS20	MT-TK	RAF1	MYBPC3	CORIN	TMPRSS6	COX14	NDUFS3	GCLC	MICOS13	HESX1	PMS2	LIPE	TTC26	GALM	MT-TN	ZNFX1	RELA	DNASE2	MLH3	CD81	CD40LG	SLC2A1	JMJD1C	CCND1	FANCG	ACAT1	BAAT	IL17RC	PCSK9	PAX8	EOGT	BBIP1	IFT122	UBE2T	MYL2	SAR1B	TCF3	DOCK2	CNOT1	CEP19	HPD	SHPK	HSPG2	SPIB	GALE	SMARCA4	RRAS	COX4I2	CEACAM6	CD96	LAMA5	TCTN1	IGHM	TXNDC15	BLVRA	SLC30A10	ZFYVE19	XK	ERBB3	RMND1	NDUFA11	AGA	BCHE	DUOXA2	CTC1	APC2	MECP2	IRAK4	PDPN	MTTP	SAA1	CLIP2	FOXF1	RFWD3	SMARCD1	TMEM165	VPS50	NDUFAF2	BLNK	NEUROG3	GNB2	SLC20A2	TG	SFTPC	KYNU	MRPL44	APOB	CTRC	B3GLCT	UNC45A	SLC6A14	COMT	KIF23	GIMAP5	IFT27	KIF3B	SCNN1G	ERCC1	SMARCE1	ARMC5	CEP83	BBS4	PDGFRB	ZPR1	PDGFRL	UROS	CEACAM3	SOS1	CD70	ABCC6	SF3B1	CASP8	LDLRAP1	MYORG	IRF2BP2	BBS12	SLCO2A1	ATP6AP2	ARG1	GTF2IRD1	GNS	CYBA	CHD7	APOC2	TWNK	ARL13B	SLC34A2	NAGS	WDPCP	ACVR2B	CNTNAP2	ANKRD55	UBR1	PRPS1	TMEM237	CDKN1B	RFC2	FANCD2	RBCK1	TBL2	PUS7	IL2RB	TNPO3	STAT4	CTSA	KCNAB2	TFE3	ALDH1A2	PSMG2	TNFSF15	GH1	NELFA	ADAMTSL2	CYP7A1	SLC17A5	NOD2	CSPP1	DNAJC30	ESCO2	KCNJ11	LHX4	TIMMDC1	TRMT5	TMEM199	RBM8A	NPHP4	SOS2	TOGARAM1	ARL6	CDAN1	TPI1	BOLA3	KIF12	PRIM1	NHLRC2	IL6ST	IRF5	SLC5A5	RASA2	ALG5	TMEM231	HBG1	GSTM3	TGFBR2	MST1	PRKACA	SLX4	TPP2	PSMB4	BBS7	ALG1	TSC2	FANCL	BBS9	STOX1	HADHB	AXIN1	PGM1	OTUD5	NDUFB11	MED25	PIGS	MUC5B	HOXD13	RAD51	UFD1
HP_CIRRHOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CIRRHOSIS	EOGT	SLC40A1	TERT	CTNNB1	YARS1	CASP8	SERPINA1	LIPA	FOS	JAK2	TGFB1	PHKA2	TMEM67	TJP2	POLG	PIK3CA	HFE	SLC9A3	ATP6AP2	TERC	INPP5E	ARG1	DLL4	FECH	CCDC115	SPIB	APOE	CLCA4	NHP2	SKIC2	GDF2	DOCK6	ATP7B	NOP10	PARN	TFAM	TINF2	SMAD4	CEACAM6	JAG1	RTEL1	FCGR2A	ACVRL1	ABCB11	GPR35	ASS1	HSD3B7	CALR	NOTCH1	SLC30A10	NGLY1	DHCR7	ZFYVE19	GCLC	PPARG	TALDO1	APC	DCTN4	IL12RB1	USB1	CTC1	ABHD5	NPHP3	IFT43	SKIC3	ALDOB	UROD	ABCB4	CYP7B1	EDNRA	MED12	NPM1	DKC1	TNPO3	HBB	AP1B1	SLC11A1	IL12A	MARS1	MPI	MTTP	SCARB2	PEX1	DCDC2	GALT	CAVIN1	TNFSF15	CC2D2A	ENG	MIF	TULP3	TFR2	NR1H4	POU2AF1	ALMS1	BMP6	F5	HAMP	FAH	IL21R	BSCL2	WRAP53	TYMP	KCNN4	SFTPA2	TRMT5	PKHD1	SFTPC	FARSB	RRM2B	KRT18	CFTR	SMPD1	PIGA	COG4	RBPJ	ARHGAP31	LIG3	TREX1	ITCH	KIF12	GBA1	PRIM1	TCF4	LBR	SLC26A9	COG6	IRF5	SLC6A14	SLC7A7	TYMS	HJV	HMOX1	BMP2	GSTM3	ATP6AP1	DGUOK	MST1	GLRX5	AGPAT2	KIF3B	RPGRIP1L	MMEL1	GBE1	TTC26	AP1S1	ATP8B1	MET	MPV17	PHKG2	SEMA4D	CD40LG	AXIN1	PHKB	PDGFRL	PYGL	CEACAM3	IGF2R	MUC5B	STX1A	CAV1	TP53	BCS1L	SLC25A13
HP_HEPATIC_FIBROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATIC_FIBROSIS	BBS2	CSPP1	EOGT	BBIP1	POU2AF1	SLC40A1	ALMS1	IARS1	IFT122	DCDC2	HAMP	NGLY1	PTRH2	NHP2	RPGRIP1	USP53	TRIM32	LIPA	TXNDC15	B9D2	SKIC3	CC2D2A	HJV	PHKA2	TMEM67	TCTN2	DYNC2I1	BBS10	BBS12	INSR	CEP19	SLC25A13	TCTN3	TMEM107	OFD1	SLC51A	INPP5E	IFT140	IFT74	DLL4	PNPLA6	WDR35	PKHD1	DZIP1L	MKKS	NPHP4	SKIC2	ARL6	SPIB	WDR19	NPHP1	LZTFL1	NPHP3	BBS5	RBPJ	ARHGAP31	NOP10	KIF12	TRAF3IP1	PRIM1	DOCK6	TCF4	PMM2	IFT80	NEK1	GLIS3	MKS1	BCS1L	IRF5	RINT1	UNC45A	TCTN1	TMEM231	DPM1	CCDC28B	HBB	MPI	ATP6AP1	GPR35	DYNC2H1	DGUOK	ABCB4	WDPCP	MST1	NOTCH1	IFT27	CFAP418	KIF3B	RPGRIP1L	IFT172	MMEL1	ABCD3	CEP290	BBS1	TTC26	NEK8	BBS7	SCYL1	AP1S1	TTC8	BBS9	ACADVL	TMEM237	SDCCAG8	TMEM216	ALG9	DNASE2	IL12RB1	RBCK1	RNU7-1	FADD	GPD1	PHKG2	SEMA4D	SCAPER	PLIN1	CYP7B1	BBS4	MET	MED12	INVS	DYNC2I2	TNPO3	CTNNB1	PHKB	IL12A	MARS1	PYGL	B9D1	ANKS6	MTTP	PEX1	CEP164	ASL	TERT	TNFSF15	AGL	SLC51B	IQCB1	ASAH1	GBA1	TULP3	TALDO1
HP_CHOLESTASIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOLESTASIS	UNC13D	RHD	EPB42	EPB41	IARS1	POU1F1	YARS1	NKX2-5	B2M	CTCF	SLCO1B3	ABCC2	BRCA1	TSHB	TSHR	USP53	JAK2	SLC44A1	ZNF699	MYO5B	PRF1	ETFA	RNASEH2C	PHKA2	PRKAR1A	TMEM67	GPI	TJP2	RNU7-1	RAB27A	PRSS2	SETD2	ATP6AP2	ABCB11	SLC51A	GALM	AKR1D1	TP53	HYOU1	IFT140	ARG1	NPC2	SPTA1	DZIP1L	PEX14	SPOP	CCDC115	SHPK	POMC	CASR	ADAMTS13	PEX26	LIPA	UGT1A1	TRHR	SPIB	BCS1L	GNAS	SPTB	GALE	KCNN4	HMGCL	CPOX	SPINK1	PEX3	OCLN	TRAF3IP1	ATP7B	SLCO1B1	APOA1	HADHA	PTPN3	PEX16	STXBP2	COX4I2	GLIS3	TFAM	PEX1	ADK	EPCAM	ARL13B	RINT1	JAG1	SLC10A1	SLC4A1	ACADVL	HNF1B	FCGR3B	RNASEH2B	FH	STX11	PEX6	CTRC	MMACHC	TPO	GPR35	HSD3B7	ABCB4	CALR	HSD17B4	CFTR	LBR	SLC25A13	PEX19	LYZ	BLVRA	IYD	VIPAS39	DHCR7	EARS2	NEK8	CDKN2A	ZFYVE19	UBR1	PRPS1	NPHP3	TREX1	CPA1	SLC26A4	VPS33B	CDKN1B	GFM1	PKLR	DUOXA2	IL12RB1	NOTCH2	RBCK1	RHAG	ATP11C	SKIC3	APC2	PEX13	ATP8B1	RABL3	ALDOB	LHX3	ETFB	CYP7B1	IFT172	MED12	TNPO3	HBB	IL12A	MARS1	PROP1	ATP7A	ANKS6	PIEZO1	SAA1	DCDC2	SLC37A4	PEX2	TNFSF15	GH1	ALG6	ASAH1	CYP7A1	VPS50	TULP3	SC5D	PEPD	NR1H4	POU2AF1	F5	SPTBN1	PALB2	SLC16A2	AP1S1	KMT2E	HTRA2	NEUROG3	RNASEH2A	IER3IP1	LHX4	BRCA2	LYST	PEX11B	PERCC1	GNB2	SEC23B	G6PD	INSR	TG	TBX19	KRAS	PEX12	AMACR	PKHD1	FGA	RHCE	KYNU	FARSB	DHFR	KRT18	ALDOA	FLI1	SLC2A1	NSD1	CDAN1	TPI1	FOCAD	PFKM	IL2RG	PALLD	KIF12	PEX5	PEX10	TCF4	COG6	SP110	LSM11	IRF5	UNC45A	SLC5A5	COG7	KIF23	PARS2	GALK1	CASK	ATP6AP1	DGUOK	TMPRSS6	IL18BP	GCLC	MST1	SLC30A10	GLRX5	AP1B1	HESX1	SMAD4	PIGA	CYP27A1	CLDN1	MMEL1	DUOX2	ABCD3	ETFDH	PRSS1	ALG8	NPC1	TTC26	NAA10	IFIH1	DEF6	HBG2	MPV17	DNASE2	SAMHD1	ADAR	WDR35	DPAGT1	HADHB	LPL	GYPC	SMPD1	PHKG2	ANK1	SEMA4D	RFX6	CEP83	PGM1	UROS	RNU4ATAC	PAX8	PCSK1	HK1	BAAT	TRMU	GALT	SLC51B	SERPINA1	CDIN1	EIF2AK3	NBAS	POLG2	PKD2
HP_HEPATIC_FAILURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATIC_FAILURE	CYC1	F13A1	NR1H4	POU2AF1	ALMS1	IARS1	IFT122	FAH	MT-ND2	BMP6	F5	CYP7B1	ACAD9	IL21R	LIPA	JAK2	PEX11B	CPT2	COQ2	MT-ND1	WRAP53	TJP2	F13B	TERT	SLC25A20	HFE	PEX12	CEP164	AKR1D1	AMACR	INPP5E	MT-ND5	CCDC115	SLC25A15	EPM2A	KRT18	NDUFS4	SPIB	DKC1	SMPD1	FOCAD	PIGA	NHP2	COG4	GDF2	PEX3	ITCH	H4C3	HLA-DRB1	PEX5	PEX10	COX16	ATP7B	TCF4	NOP10	PARN	OSTM1	PEX19	SLC2A2	PTPN22	HADH	TFAM	TINF2	SMAD4	MT-TV	SP110	IRF5	FECH	RINT1	MT-TK	JAG1	SLC7A7	RTEL1	PEX2	TYMS	POLG	FH	ACVRL1	PEX6	ALDOB	CPT1A	GPR35	DGUOK	HSD3B7	CALR	IL18BP	MST1	HLA-B	PEX14	RPGRIP1L	MMEL1	CACNA1S	ABCD3	PEX16	DAXX	GBE1	NPC1	MT-TW	SCYL1	UBR1	DEF6	PEX1	IKZF1	XIAP	SH2D1A	MT-TL1	ZNFX1	GFM1	MPV17	MT-ND6	PCK2	IL12RB1	USB1	CTC1	MT-ND3	MT-TT	SKIC3	HADHB	PEX13	MT-ATP6	PORCN	DLD	SEMA4D	OTC	NHLRC1	IFT172	MT-ND4	MED12	NPM1	MRM2	ENG	TNPO3	HADHA	IL12A	RYR1	MEFV	MARS1	MPI	LARS1	DCDC2	P4HA2	PEX26	ACTG2	MRPS7	BAAT	TRMU	GALT	TNFSF15	CC2D2A	BTNL2	SERPINA1	TMEM67	ATRX	ASAH1	GBA1	EIF2AK3	NBAS	PCK1	POLG2	TERC	SC5D
HP_HEPATOCELLULAR_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATOCELLULAR_CARCINOMA	HBB	PMS1	ABCB11	GIMAP5	BTK	POU2AF1	GPR35	TGFBR2	CTNNB1	FAH	BMP6	HMBS	MST1	CASP8	PMS2	MLH1	PRKCD	MMEL1	SPRTN	FAS	CASP10	CPOX	ABCB4	TJP2	BMPR1A	MET	APC	SLC25A13	PIK3CA	SEMA4A	HFE	G6PC1	MPV17	IGF2	MLH3	AHCY	IL12RB1	SLC37A4	SERPINA1	FASLG	JAK2	SEMA4D	UROD	SPIB	RASGRP1	MSH2	AXIN1	FAN1	PDE11A	TNPO3	F5	PHKB	PDGFRL	IL12A	PYGL	ATP7B	TCF4	PRKAR1A	MSH6	SLC2A2	EPCAM	RPS20	KRAS	IRF5	IGF2R	TNFSF15	PPOX	JAG1	TP53	TULP3	BMP2
HP_MACROVESICULAR_HEPATIC_STEATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACROVESICULAR_HEPATIC_STEATOSIS	NAA10	RRM2B	DOCK2	MTX2	TYMP	POLG	MICOS13	TRMU	VPS33A	LIG3	MPV17	LYRM4	CPT2	NDUFAF1	CYP7A1	EARS2
HP_PERIPORTAL_FIBROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPORTAL_FIBROSIS	ANKS6	ACADVL	SLC51B	SLC51A	ALG9	DGUOK	LIPA	PKHD1	BCS1L	DZIP1L
HP_HEPATIC_CYSTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATIC_CYSTS	GANAB	EXTL3	DNAJB11	IFT122	BICC1	JAK1	ALG8	PKD2	SEC63	WDR19	TTC21B	NEK8	IFT140	ALG9	TSC2	IFNG	TSC1	PKD1	LRP5	OFD1	CC2D2A	ALG5	NPHP3	PKHD1
HP_BILE_DUCT_PROLIFERATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILE_DUCT_PROLIFERATION	PHKG2	FARSB	ABCB4	HSD17B4	TMEM67	CYP7B1	DCDC2	MICOS13	MED12	CEP290	TMEM216	KIF12	TTC26	SLC37A4	MKS1	NPHP3	RPGRIP1L	CC2D2A	POLG	WDR35
HP_MICRONODULAR_CIRRHOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICRONODULAR_CIRRHOSIS	ZFYVE19	DGUOK	KRT18	CTNNB1	MET	APC	IGF2R	SLC30A10	AXIN1	PIK3CA	CASP8	PIGA	KIF3B	ATP6AP2	TREX1	TP53	MPV17	NGLY1	PDGFRL	ARG1	POLG	ABHD5	TALDO1
HP_MICROVESICULAR_HEPATIC_STEATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROVESICULAR_HEPATIC_STEATOSIS	LRPPRC	NAA10	NHLRC2	PIGA	TFAM	VPS4A	YARS1	SLC22A5	BCS1L	UNC45A	TRMU	MRPL44	ACAD9	CARS2	MPV17	LYRM4	DNAJC19	NGLY1	POLG
HP_X_LINKED_INHERITANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_X_LINKED_INHERITANCE	IL2RG	PRPS1	FHL1	GABRA3	CASK	CLDN2	RAB39B	NLGN4X	POLA1	RPL10	HS6ST2	CUL4B	CFAP47	GPRASP2	NSDHL	PDHA1	RBMX	BGN	SHOX	CDKL5	GPC4	ATP2B3	ACSL4	RPGR	CNGA1	MBTPS2	NYX	FRMD7	AVPR2	SYN1	FGD1	NLGN3	NDP	GATA1	GCNA	ATP6AP2	OCRL	ARX	SSR4	AMMECR1	FMR1	HPRT1	MAGED2	MECP2	ATP7A	RNF113A	TSR2	VMA21	COX7B	BTK	STS	RP2	HCFC1	GRIA3	OFD1	ARL6	LRAT	ZIC3	OPN1MW	EDA	NHS	PAK3	MED12	HMGB3	PHKA2	NKAP	FGF16	EBP	RPS6KA3	RBM10	OPN1LW	TAF1	CLCN4	DDX3X	CFAP418	TSPAN7	UBA1	FAM50A	MAGT1	OTC	ZDHHC9	GDI1	CFP	TEX11	FLNA	CLCN5	SH3KBP1	ARSL	XIAP	USP9X	MAMLD1	STEEP1	ZNF711	RS1	PGK1	NDUFB11	SLC6A8	IDS	GPR179	AIPL1	FANCB	CLIC2	GPR143	AIFM1	AMELX	GLA	CHRDL1	TBX22	BCOR	XK	CNKSR2	ZC4H2	STAG2	SMC1A	L1CAM	NR0B1	DCX	PHKA1	ALAS2	GPR101	LAGE3	POU3F4	ATP11C	KDM5C	UBE2A	IGBP1	ARHGEF9	TBL1X	DMD	OPHN1	ANOS1	HDAC8	OGT	TLR7	DKC1	KIF4A	ALG13	CYBB	EIF2S3	FRMPD4	TFE3	DIAPH2	NDUFA1	AR	GLRA2	MID2	PQBP1	GJB1	PLP1	KLHL15	SLC9A6	IL1RAPL1	HCCS	WAS	COL4A5	SRY	IKBKG	SLC9A7	FOXP3	MAOA	ATRX	DLG3	GJB6	CRX	CLRN1	SOX3	PTCHD1	ELF4	NAA10	G6PD	USP27X	IRS4	HDAC6	TMLHE	HSD17B10	CHM	UPF3B	PCDH19	DNAAF6	ADGRG2	ABCB7	ABCD1	THOC2	GJB2	SMPX	PIGA	GK	F9	AP1S2	BMP15	ARR3	COL4A6	TAFAZZIN	BRWD3	WDR45	CCDC22	TLR8	NEXMIF	MID1	CACNA1F	HNRNPH2	PHEX	CSF2RA	MTM1	PDK3	PHF6	FTSJ1	ATP6AP1	SLC35A2	RBP3	KDM6A	LAS1L	SLC16A2	PHF8	SASH3	HUWE1	TIMM8A	POF1B	FGF13	SYP	MSL3	LAMP2	SH2D1A	CRB1	TBC1D8B	GPC3	RLIM	CD40LG	IGSF1	IQSEC2	OTUD5	AFF2	EFNB1	BCORL1	CCNQ	BCAP31	ROM1	MSN	F8	AMER1	SMS	NONO	PORCN	TRAPPC2	UBQLN2	PRICKLE3	EMD	PDE6G
HP_X_LINKED_RECESSIVE_INHERITANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_X_LINKED_RECESSIVE_INHERITANCE	IL2RG	PRPS1	CLDN2	RAB39B	POLA1	RPL10	HS6ST2	CUL4B	CFAP47	GPRASP2	NSDHL	RBMX	GPC4	ATP2B3	RPGR	CNGA1	MBTPS2	NYX	AVPR2	SYN1	FGD1	NDP	GATA1	ATP6AP2	OCRL	ARX	SSR4	AMMECR1	HPRT1	MAGED2	ATP7A	TSR2	VMA21	BTK	STS	HCFC1	GRIA3	OFD1	ARL6	LRAT	ZIC3	OPN1MW	EDA	MECP2	PAK3	MED12	PHKA2	NKAP	FGF16	RBM10	OPN1LW	TAF1	DDX3X	CFAP418	TSPAN7	UBA1	FAM50A	MAGT1	OTC	CFP	TEX11	CLCN5	SH3KBP1	ARSL	XIAP	USP9X	MAMLD1	RS1	PGK1	BGN	SLC6A8	IDS	GPR179	AIPL1	FANCB	CLIC2	GPR143	AIFM1	GLA	CHRDL1	L1CAM	PHKA1	NR0B1	ALAS2	LAGE3	POU3F4	ATP11C	KDM5C	UBE2A	IGBP1	ARHGEF9	DMD	OPHN1	ANOS1	OGT	TLR7	FHL1	DKC1	KIF4A	CYBB	EIF2S3	FRMPD4	NDUFA1	AR	EBP	ZC4H2	MID2	PQBP1	PLP1	KLHL15	SLC9A6	IL1RAPL1	WAS	IKBKG	SLC9A7	FOXP3	MAOA	DLG3	GJB6	CRX	CLRN1	PTCHD1	ELF4	STAG2	USP27X	IRS4	TMLHE	UPF3B	DNAAF6	ABCB7	ABCD1	THOC2	GJB2	PIGA	GK	F9	AP1S2	COL4A6	SMPX	TAFAZZIN	BRWD3	ATRX	CCDC22	FLNA	MID1	MTM1	PHF6	FTSJ1	ATP6AP1	RBP3	LAS1L	SLC16A2	PHF8	SASH3	NAA10	TIMM8A	POF1B	FGF13	SYP	SMC1A	SH2D1A	GPC3	RLIM	CACNA1F	CD40LG	IGSF1	IQSEC2	OTUD5	AFF2	BCORL1	BCAP31	ROM1	MSN	F8	SMS	NONO	TRAPPC2	EMD	PDE6G
HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_HAND	STIM1	CHCHD10	SVBP	TBX5	FXN	VCP	MATR3	BSCL2	SLC52A3	NGLY1	MYH7	MFN2	GARS1	LRP4	MORC2	FLNA	GBF1	COLQ	CHRNA1	RPS26	SPG11	RPL26	NEFL	LMNA	LDB3	KLHL9	EIF4A3	SALL4	RPS24	SLC12A6	GATA1	CAV3	AGRN	CHRNB1	RAD51C	FBXW11	RPS27	AAAS	REEP1	YARS1	TSR2	ADA2	SLC39A13	PRX	RPS28	FBXO38	SCN4A	PNPLA2	FGFR2	DYSF	HSPB3	HOXA13	COMP	RPS19	GNE	FLNC	RPL15	POLG	AK9	SLC25A21	ALS2	RPL11	RPS15A	CHRND	PDK3	MUSK	RPS29	RPS20	SBF2	TRAPPC11	PMP22	MPZ	RPL27	RPL35A	ACTA1	LAMB2	NEB	TIA1	CHRNE	CADM3	HINT1	MARS1	FGD4	KANSL1	GDAP1	IDUA	PLOD3	BICD2	RYR1	TIMM8A	MAP3K7	RPS17	DCTN1	HARS1	SQSTM1	RAPSN	TRPV4	RPS10	COL13A1	EMILIN1	FUZ	RPL35	DOK7	TK2	TFG	JAG1	GMPPA	RPS7	RPL18	GJB1	GYG1	KIF1A	RPL31	SLC5A6	RPL5
HP_X_LINKED_DOMINANT_INHERITANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_X_LINKED_DOMINANT_INHERITANCE	COL4A5	SRY	CASK	SLC35A2	FHL1	IKBKG	ATRX	NDUFB11	KDM6A	TLR7	PDHA1	CDKL5	GPR101	ACSL4	AMELX	BCOR	COX7B	SYN1	ZC4H2	NAA10	SMC1A	MSL3	G6PD	LAMP2	OFD1	FLNA	FMR1	HDAC6	HSD17B10	MECP2	RNF113A	USP9X	HDAC8	SMPX	MED12	ALAS2	EDA	NSDHL	IQSEC2	NHS	EFNB1	DIAPH2	EBP	RPS6KA3	CCNQ	CLCN4	WDR45	DDX3X	AMER1	NEXMIF	PORCN	GJB1	UBQLN2	HNRNPH2	GDI1	F8	PHEX	PDK3	HCCS
HP_MULTIFACTORIAL_INHERITANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIFACTORIAL_INHERITANCE	CFH	SCGB3A2	HLA-DQB1	PAX4	CCL11	ALOX5AP	GABRA2	GJA1	HLA-B	NLGN4X	ADH1B	TNF	HLA-DRB1	ADRB2	SLCO1B3	PPARG	MUC7	TAS2R16	NOS3	F5	NOD2	A2ML1	ADD1	IRF6	NBN	TP53	BAX	AGT	GDF3	COL2A1	CYP3A5	NLGN3	SLCO1B1	BMP4	TAL1	APOL1	GDF6	FLT3	SLITRK1	DNMT3B	IL13	PLA2G7	BRCA2	ADH5	SCN5A	GJB3	DYNC2H1	HNMT	PRKCH	ECE1	F2	BRCA1	TPH2	SMCHD1	GNB1	SNRPN	FKBP5	CST3	GNB3	ALOX5	NLRP1	HTR2A	SERPINH1	PTGIS	TAL2	NUP214	PDCD1	NEK1	LRIF1	FRZB	HLA-C	ABCG8	AGTR1	GJB6	TYMS	GJB2	ADH1C	BCR	HLA-G	FLRT3	IL6	STOX1	HLA-DQA1
HP_MITOCHONDRIAL_INHERITANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MITOCHONDRIAL_INHERITANCE	MT-CYB	MT-TQ	MT-TF	NDUFS4	MT-TT	MT-CO3	MT-ND4L	CHKB	MT-TL1	MT-TK	SURF1	MT-ND5	MT-ATP6	MT-ND6	MT-TS2	MT-TP	MT-TW	FDX2	MT-TV	MT-CO2	MT-ND4	TRMU	MT-TN	MT-ND1	BCS1L	MT-TC	MT-ND2	MT-TI	MT-CO1
HP_SOMATIC_MUTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SOMATIC_MUTATION	FGFR3	CTNNB1	PIK3CA	STK11	GPC4	CASP10	CASP8	KIT	BCR	APC	MPL	ERBB2	NRAS	GPR161	GNB1	RAD51	CREB1	AR	TSC2	MYD88	FASLG	TSC1	CDH1	TET2	TAF15	RB1	TERT	SLC22A18	NUMA1	WT1	TP53	KRAS	PTPN11	GPC3	TAL2	AKT1	CCND1	PDGFRA	MLH3	HRAS	C1GALT1C1	RPS14	BRCA2	PAX3	AIP	OPCML	BCL10	NF1	ARMC5	JAK2	ASPSCR1	GATA2	CHIC2	PLAG1	MLLT10	NQO2	SRC	BRAF	MSH6	BAX	BRCA1	PTPRJ	RAD54L	NPM1	DLC1	SF3B1	PPM1D	ARHGAP26	IRF1	IL6	LZTS1	KLF6	HMMR	IL1B	PDGFRL	NEK9	CHEK2	ABL1	NUP214	ELP1	SMARCB1	SRGAP1	DNMT3A	MYC	EP300	AXIN2	PTEN	CYP2A6	SSX2	EWSR1	PTCH2	CBL	NBN	MET	XRCC3	RAD54B	HDAC4	LPP	PIGT	ETV6	TAL1	PIGA	SUFU	POU6F2	LIG4	FLT3	H19	TFE3	RB1CC1	PAX6	BARD1	PTPN12	MCC	NF2	RARA	EGFR	ESR1	RUNX1	BRIP1	MXI1	SH2B3	IGF2	MUTYH	FGFR2	PALB2	PRCC	SH3GL1	AURKA	BUB1	ASCC1	DCC	NR4A3	ZFHX3	TGFBR2	EXT1	MAP3K8	WWOX	MSH3	FLCN	MSR1	TLR2	ERCC6	GNAS	BUB1B	SSX1	PRKN	PPP2R1B	MTOR	CDC73	AXIN1	ATM	PICALM	IDH1	PHB1	IL1RN	CTHRC1	FOXO1	RNF6	IGF2R	PLA2G2A	ASXL1	CALR	CEBPA	MINPP1	SMAD4	KIF1B	MAD1L1	PAX7
HP_ABNORMALITY_OF_THE_CALF_MUSCULATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CALF_MUSCULATURE	SLC25A1	SMN1	FKRP	FHL1	DHX16	MTMR14	CAV3	FKTN	TRIM32	RYR1	DPM3	PLEC	LMNA	DYSF	KLHL9	TTN	ANO5	SGCG	SGCA	MAP3K20	AAAS	SGCB	MYH7	CIDEC	SACS	LIMS2	POPDC3	GMPPB	DMD	DES	DAG1	POMT1	PNPLA2	CAPN3	FBN2	VPS13A	SGCD	TRAPPC11	CRPPA	POMK	LARGE1	NEB	MICU1	MYF6	POMT2	WASHC5	HINT1	PMP22	FRG1	LTBP4	PPARG	MATR3	TCAP	POMGNT1	FLNC	TRPV4	DNM2	PLIN1	KCNA1	POMGNT2	REEP1	AR	CHCHD10	GMPPA	UNC45B	BIN1	LAMA2
HP_HEPATOSPLENOMEGALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATOSPLENOMEGALY	SLC4A1	IDUA	RHD	KPTN	SOX10	ALMS1	CTSK	IARS1	RASGRP1	TCIRG1	CYP7B1	UNC13D	PALB2	BRCA1	PTPRC	DCDC2	STXBP2	LBR	STAT1	IDS	COG5	IFNGR1	LIPA	RNASEH2A	BRCA2	ZNF699	FGFR2	MVK	TGFB1	PRF1	GNB2	RNASEH2C	TMEM67	PRKCD	SLC29A3	MEG3	CYBC1	VPS33A	RNU7-1	RHAG	KRAS	PTPN22	DZIP1L	TP53	IFT140	ASXL1	JAK2	CCDC115	RHCE	RBM8A	DLK1	STEAP3	CFTR	PLEKHM1	ALG9	COG4	PALLD	RAC2	ITCH	RAG2	G6PC3	TCF4	OSTM1	TET2	NHLRC2	IL6ST	CLCN7	CD247	SP110	LSM11	SNX14	HEXB	AP3B1	SLC7A7	CD3E	HAVCR2	FCGR2A	ZAP70	RNASEH2B	DPM1	HBB	GNPTAB	GNE	NCKAP1L	GPR35	RAB27A	CALR	GCLC	SLC25A13	MST1	GLRX5	CD27	KIF3B	SMAD4	MOGS	ANKRD55	IFNG	CAV1	STAT3	GBE1	RAG1	PTPN2	CDKN2A	SCYL1	COG7	TALDO1	IFIH1	PSTPIP1	NEU1	GLB1	NPHP3	DDRGK1	RTL1	ZNFX1	CBL	ADA2	DNASE2	FERMT3	SAMHD1	ADAR	KLF1	TOM1	RABL3	LPL	RUNX1	COG1	SEMA4D	IL2RB	CA2	LYST	ABCA1	JAK1	GALK1	SLC2A1	IL2RA	MED12	FARSA	NLRP3	STAT4	CTSA	RNU4ATAC	TFE3	MAN2B1	TNFSF11	TREX1	PKHD1	CD3D	SRSF2	MPL	PEX2	IKBKG	ASAH1	GBA1	SC5D	LPIN2	CD70	TULP3	IL7R	JAK3
HP_ABNORMALITY_OF_THE_SHOULDER_GIRDLE_MUSCULATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_SHOULDER_GIRDLE_MUSCULATURE	PAX3	KLHL41	TBX5	MAP3K20	FKRP	FHL1	VCP	SLC25A4	MATR3	CFL2	CSGALNACT1	CUL7	GFPT1	MYH7	TMEM43	ALG2	SQSTM1	MYMX	LRP4	RYR1	CAPN3	FLNA	COLQ	TRIM32	C19orf12	MYMK	TK2	NEFL	SMN1	MYPN	TTN	DYSF	SALL4	EMD	TPM2	SYNE2	SGCG	SGCA	SPRED2	AGRN	CHRNB1	RBM8A	RRM2B	ATP6V0A2	SGCB	NEB	ALX1	REV3L	GDF11	GYG1	SMCHD1	DMD	SCN4A	PNPLA2	SMN2	SMPX	CCDC8	ASH1L	LMNA	SEPTIN9	PSAP	OBSL1	PAX1	SPEG	TWNK	COL6A3	GNE	POLG	SELENON	PLXND1	PYROXD1	AK9	SYNE1	ANO5	COL12A1	MT-TE	KCNJ2	DSTYK	SGCD	DPAGT1	BIN1	CHRND	LGI4	GMPPB	MUSK	FBN1	KBTBD13	CRPPA	ACTA1	LAMB2	TPM3	CHRNA1	POGLUT1	MYOT	MYH2	TBX3	CHRNE	FLNB	EYA1	GDAP1	FRG1	GALC	DNM1L	BICD2	MAP3K7	PTPN11	MYL2	COL6A2	OPA1	ANXA11	RAPSN	MYBPC1	ITGA7	ABHD5	BRAF	COL13A1	TRPS1	ALX3	TGFB3	TRPV4	EMILIN1	TRIO	POMT2	PRR12	DNAJB6	TNPO3	HNRNPDL	RAF1	POLG2	DOK7	ALG14	HACD1	LRIF1	COL6A1	VWA1
HP_ABNORMALITY_OF_THE_FOOT_MUSCULATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_FOOT_MUSCULATURE	RYR1	GNE	LMNA	DNM2	KLHL9	MTMR14	HNRNPDL	BIN1	MYH7	MYF6	BSCL2
HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_LOWER_LIMBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_LOWER_LIMBS	SLC25A1	SMN1	FKRP	FHL1	VCP	DHX16	MTMR14	CAV3	PI4KA	MYH7	TMEM43	DNAJC6	LMNA	VAMP1	KIF5A	FKTN	RYR1	TRIM32	ZFYVE26	DPM3	NEFL	PLEC	ATP13A2	LDB3	DYSF	KLHL9	MT-ATP6	EMD	TTN	ANO5	SYNE2	ABCD1	SGCG	SGCA	ANO10	MAP3K20	AAAS	SGCB	REEP1	CIDEC	SACS	LIMS2	POPDC3	PODXL	GMPPB	DMD	DES	SMN2	DAG1	DKK1	POMT1	GNE	SYNE1	PNPLA2	CAPN3	FBN2	SPAST	VPS13A	SGCD	DARS2	TRAPPC11	CRPPA	ADSS1	KIF1A	POMK	LARGE1	NEB	MICU1	MYF6	POMT2	WASHC5	HINT1	PMP22	FRG1	LMX1B	LTBP4	PPARG	MATR3	TCAP	POMGNT1	FLNC	TRPV4	DNM2	PLIN1	HNRNPDL	RASA1	KCNA1	POMGNT2	AR	CHCHD10	SYNJ1	GMPPA	DYNC1H1	UNC45B	BIN1	LAMA2	BSCL2	CLCN1	SRY
HP_ABNORMAL_ABDOMEN_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ABDOMEN_MORPHOLOGY	FOXP3	SLC4A1	NLRP3	CIDEC	ARSB	YARS1	TRNT1	BAP1	B2M	UQCRB	BRCA1	LMNA	GPC4	LBR	USP53	LIPA	LTBP4	GNE	HBA1	ZNF699	CPT2	STAT6	ETFA	RNASEH2C	MT-ND1	GPI	TERT	ADAMTS3	SLC25A20	RMRP	ADAR	HFE	GNPTAB	ABCB11	FCHO1	AP3D1	TP53	THPO	IFIH1	NPC2	TCIRG1	CR2	PEX14	ASXL1	JAK2	CCDC115	GP1BA	STEAP3	NAGLU	RASGRP1	GP1BB	PEX3	TBXAS1	IL1RN	RAC2	PTPN11	ZIC3	TAPT1	DOCK6	ATP7B	SLC39A4	APOA1	HADHA	PEX16	SLC25A1	NFKB1	RINT1	HBG2	BCR	HNF1A	MAGT1	VPS33A	HAVCR2	RNASEH2B	CPT1A	ASS1	ALMS1	VPS4A	DDRGK1	HSD17B4	LRBA	SLC25A13	NOTCH1	GBA1	TRIP13	PEX5	LYZ	CFAP410	PIEZO1	ACADM	VIPAS39	PCCA	FDX2	PRG4	PTPN2	NEK8	ERCC8	FBP1	MKS1	NLRP12	NPHP3	XIAP	NDUFA1	MT-ND6	IL12RB1	PEX6	ABHD5	RNU7-1	NAGA	MT-ATP6	COG1	REL	KCNN4	OTC	SLC37A4	NDUFV2	HBB	IL12A	MPI	SGSH	LTBP3	IL2RA	MMUT	HLA-DRB1	MPC1	LARS1	DCDC2	GALT	ASL	CAVIN1	USB1	MPL	DHCR24	EFL1	CD19	ATRX	IL12A-AS1	MYPN	MAN2B1	JAK3	PIK3CD	DPM2	GNA11	SOX10	NR1H4	CASP10	RHBDF2	NDUFS4	TNFSF11	NGLY1	FAH	GUCY2D	PKLR	PTPRC	NCF1	ADA	RAG1	COL3A1	FUCA1	MPIG6B	KRAS	SRP54	ATP6V1B2	NBEAL2	PKHD1	RHCE	COX10	SLC40A1	FARSB	DHFR	CFTR	TNNT2	FLI1	MADD	RBPJ	INSR	ZAP70	FLNC	GPC3	CSF3R	ANTXR1	SP110	LSM11	UMPS	TBX1	IDUA	TLR8	WDR35	HEXB	MAPK8IP3	SLC7A7	TNFRSF11A	COG7	NDUFS1	MRPL3	HBA2	BMP2	CCND1	ALDOB	NCKAP1L	DGUOK	BTNL2	SEC24C	LZTR1	NOTCH2	ATAD3A	XPR1	PEX10	WDR1	RPGRIP1L	MOGS	MICU1	PRKCD	SMPD1	ETFDH	DAXX	MMAB	GLB1	CD28	PEX11B	NLRC4	SNX10	SH2D1A	FERMT3	KLRC4	KLF1	TCF3	PSAP	HYMAI	PHKG2	ANK1	KCNH1	NDUFAF3	SLC22A5	JAK1	MYD88	PIGM	CASR	FGFR2	TRAPPC11	APOE	PEX12	PEPD	HK1	CAV1	FAS	GPIHBP1	BUB1	EIF2AK3	NCF4	ESCO2	DNASE1L3	UNC13D	NDUFS7	EPB41	HMOX1	GATA2	IL10	STAT1	PEX7	IRF8	TGFB1	PEX13	MEG3	MVK	ERCC6	AUH	RRAS2	TKFC	INPP5E	HYOU1	MT-ND5	ATPAF2	SPTA1	GNMT	IL6	STAT4	DCLRE1C	ABCC2	POLD1	PLEKHM1	EPB42	CPOX	CCDC47	RAG2	TNFRSF13B	TNFRSF1A	G6PC3	BUB1B	TNFRSF1B	OSTM1	PHKA2	UCP2	MRAS	IRF4	UROS	GLIS3	TFAM	PEX1	GCDH	TPP2	SNX14	AP3B1	PRKAG2	ACADVL	DPAGT1	POLG	SDHD	ERAP1	DLL4	STX11	GPR35	LMBRD1	HSD3B7	RAB27A	PPP1R21	PEX19	IDS	KIF20A	SLC25A19	TKT	LAT	PNPLA2	ICOS	CDKN2A	IFNGR1	NCF2	FAM111A	PPARG	GFM1	SPP1	CARD11	FASLG	PYGL	RABL3	DLD	ABCB4	INPPL1	MUSK	CYP7B1	IFT172	MED12	SOX18	LYRM4	NDUFS8	ALG13	RNU4ATAC	NDUFB9	ERCC4	SAMD9L	NEU1	MRPS7	AGL	HGSNAT	TMEM67	ASAH1	HMGCS2	NDUFB3	LPIN2	WDR19	TULP3	FSHR	PSMB10	PLAGL1	PTRH2	GAA	PALB2	NDUFS2	CD55	B4GALT1	C1QBP	RNASEH2A	NDUFAF8	NDUFAF5	JAM2	PEX2	KPTN	HIRA	SLC29A3	SEC23B	G6PD	RHAG	TSC1	C4A	MRPS22	MT-ND3	DZIP1L	AMACR	ABCA1	SERPINA1	SBDS	TET2	DLK1	SKIC2	CYBB	IL23R	BCL11A	ARVCF	FOCAD	MEFV	PTEN	ALG9	HNF4A	ALG2	PALLD	SLC35C1	AGGF1	SLC2A2	MT-TK	TNFRSF4	RAF1	CTLA4	MT-ND2	TYMS	DPM1	MYBPC3	COX14	NDUFS3	GCLC	NFKB2	AGPAT2	CD27	WT1	MMEL1	LIPE	ABCD3	STAT3	SASH3	ALG8	TTC26	GALM	MT-TW	MT-TN	PIGA	DEF6	PIK3CA	ZNFX1	CBL	ADA2	DNASE2	SAMHD1	ALAS2	CD81	GPD1	RIPK1	CD40LG	JAM3	SEC63	SLC2A1	ATP8B1	JMJD1C	GALNS	AKR1D1	SLC34A3	TRIM37	ACAT1	PEX26	USP18	BAAT	TRMU	TNFSF12	SPTB	CALR	CDIN1	SH2B3	KIF1B	SC5D	GUSB	GTF2H5	EOGT	COX5A	NDUFB10	CTSK	IFT122	C2orf69	NSD2	PC	MYL2	PRF1	DOCK2	TLR4	CYBC1	EXTL3	IFT140	IL7R	TSC2	CTNS	PIK3R1	SLC25A15	PCCB	SPIB	FAM111B	GALE	HMGCL	SCO1	RREB1	PARN	IKZF3	RRAS	CLCN7	COX4I2	CD247	RIT1	NUBPL	CD96	LAMA5	DIS3L2	FCGR2A	MTX2	SOCS1	ABCC8	SLC30A10	DHDDS	EARS2	ZFYVE19	XK	SCYL1	ERBB3	RMND1	NDUFA11	AGA	CTC1	SKIC3	CA2	GATA1	ETFB	MFN2	COA8	NPM1	FARSA	MDFIC	LACC1	CTNNB1	MARS1	MTTP	SAA1	SCARB2	CD3D	XRCC4	CC2D2A	TMEM165	MT-TE	ENPP1	MT-CYB	TNNI3	PHYH	POU2AF1	BUB3	NDUFAF2	BMP6	F5	SPTBN1	SLC38A3	STXBP2	UROD	MCOLN1	BRCA2	LYST	NRAS	NDUFV1	GNB2	HLA-B	WRAP53	SLC20A2	CASP8	CDKN1C	SRSF2	FGA	TMEM126B	BCL6	VPS45	COG4	ARHGAP31	TCF4	MT-TV	ITK	NDUFAF1	COMT	HJV	GIMAP5	AKT1	AKT2	ATP6AP1	IL18BP	KIF3B	IRAK1	IFNG	SMAD3	CLPB	CLDN1	ERCC1	BSCL2	G6PC1	MPV17	CBS	ABL1	GYPC	PLVAP	NDUFS6	YARS2	PDGFRB	BTD	KCNN3	NDUFAF4	ACOX1	FBN1	TRPV6	KCNQ1OT1	SOS1	ABCG8	GSN	PCK1	CD70	POLG2	TERC	PNP	EIF5A	IL2RG	RHD	ATM	ITCH	ABCC6	IARS1	SF3B1	KIT	COG5	FOS	MYO5B	MYORG	IRF2BP2	PRKAR1A	CCBE1	SLCO2A1	FAT4	ATP6AP2	ARG1	HPGD	SUMF1	NHP2	OCLN	AFF4	GNS	PDGFB	NOP10	PMM2	CYBA	CHD7	APOC2	PSMB9	MMAA	TINF2	ARL13B	PDGFRA	RTEL1	CD3E	SLC34A2	VPS13A	ALPK1	TMEM70	MRPS28	NAGS	CNTNAP2	ANKRD55	DHCR7	PSMB8	SYK	BACH2	TALDO1	SCO2	NDUFA6	TREX1	TNFRSF13C	RFT1	RBCK1	GEMIN4	PUS7	IGF2	IL2RB	GALK1	MT-ND4	MET	TNPO3	CTSA	MCM4	TFE3	ALDH1A2	PSMG2	TFAP2A	TNFSF15	PHKB	KCNQ1	XYLT1	ADAMTSL2	PRKCSH	SLC17A5	NOD2	PIK3CG	BCL2	KCNJ11	HAMP	CEP57	NIPBL	OAS1	TSFM	LIG4	FMO3	PTPN22	TIMMDC1	SUCLG1	RBM8A	SOS2	TOGARAM1	FOXRED1	KRT18	ALDOA	DKC1	LRP5	CDAN1	TPI1	BOLA3	KIF12	SPRED2	NLRP1	DNAJC21	COG6	NHLRC2	IL6ST	HBG1	IRF5	RASA2	RUNX1	ARL6IP6	CASK	TUFM	DYNC2LI1	MST1	GLRX5	SURF1	SMAD4	CCR1	NAB2	GBE1	NPC1	PSMB4	ALG1	PSTPIP1	LCAT	MT-TL1	RTL1	MIF	MS4A1	TOM1	LPL	SEMA4D	VPS33B	BRAF	PGM1	OTUD5	UBAC2	NDUFB11	PIK3C2A	PIGS	IKBKG	EWSR1	UFD1	PKD2
HP_METATARSAL_SYNOSTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METATARSAL_SYNOSTOSIS	HOXD13	POR	SLC26A2	SALL1	MAP3K20	FBLN1	FGF9
HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_THIGH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_THIGH	LMNA	LMX1B	SMN1	NEFL	ADSS1	REEP1	HNRNPDL	EMD	FHL1	DYNC1H1	ANO5	MYH7	SYNE1	TMEM43	SYNE2	SGCD	SMN2	RYR1
HP_SOMATIC_MOSAICISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SOMATIC_MOSAICISM	IL6ST	SLC35A2	HRAS	NRAS	FGFR1	GNAS	KRAS	GNAI2	DICER1	PIK3CA	RHOA	ADA	FGFR3	SMO
HP_ABNORMALITY_OF_THE_HIP_GIRDLE_MUSCULATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_HIP_GIRDLE_MUSCULATURE	TRIM32	ANO5	VCP	LMNA	SGCB
HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_UPPER_LIMBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_UPPER_LIMBS	STIM1	CHCHD10	TSEN2	MAP3K20	FXN	FKRP	FHL1	VCP	MATR3	MTMR14	CFL2	CUL7	TMEM43	LMNA	MFN2	MYMX	LRP4	KIF5A	CAPN3	FLNA	GBF1	CHRNA1	C19orf12	RPS26	MYMK	TK2	SPG11	NEFL	CPLANE1	PLEC	MYPN	TTN	LDB3	EMD	MT-CO3	RPS24	SLC12A6	MORC2	SYNE2	GATA1	SGCG	CAV3	SGCA	AGRN	RRM2B	NEFH	FBXW11	RPS27	AAAS	ATP6V0A2	ADA2	MYH7	SLC39A13	PRX	NEB	SMCHD1	RPS28	FBXO38	DMD	BSCL2	DYSF	CCDC8	KAT6A	SEPTIN9	REEP1	MTPAP	OBSL1	PAX1	TWNK	COMP	COL6A3	RPL15	NDRG1	AK9	SLC25A21	PNPLA2	POLG	RPL11	ANO5	COL12A1	KCNJ2	DNM2	GYG1	VPS37A	CHRND	SGCD	JAG2	BIN1	GMPPB	MUSK	RPS29	KBTBD13	SBF2	CRPPA	PMP22	MPZ	RPL27	RPL35A	ACTA1	KY	TBX3	FGD4	GDAP1	FRG1	GALC	IDUA	LMX1B	TSEN54	PTPN11	MYL2	COL6A2	DCTN1	TRPV4	MYBPC1	ALG2	TPM2	RPS10	ABHD5	TRPS1	TGFB3	TRIO	POMT2	PDK3	HK1	DNAJB6	TNPO3	HNRNPDL	RAF1	CYP7B1	DOK7	CEP126	TIA1	HACD1	SPG7	KANSL1	BICD2	RPL18	GJB1	FBLN5	VWA1	KIF1A	RYR1	LAMA2	RPL31	RPL5	PAX3	KLHL41	SVBP	TBX5	SLC25A4	CSGALNACT1	GFPT1	SLC52A3	NGLY1	NOTCH2NLC	SQSTM1	GARS1	COLQ	TRIM32	RPL26	SMN1	KLHL9	EIF4A3	SALL4	TSEN15	SPRED2	CHRNB1	HSPB1	RBM8A	RAD51C	YARS1	TSR2	SGCB	GIPC1	ALX1	REV3L	GDF11	LPIN1	SCN4A	FGFR2	SMN2	SMPX	ASH1L	HSPB3	HOXA13	TSEN34	PSAP	SPEG	RPS19	GNE	FLNC	INF2	SELENON	PLXND1	PYROXD1	PPOX	ALS2	SYNE1	MT-TE	DSTYK	TNR	DPAGT1	RPS15A	LGI4	FBN1	RPS20	TRAPPC11	CLDN11	ADSS1	HMBS	LAMB2	TPM3	POGLUT1	MYOT	LIPE	MYF6	MYH2	CHRNE	CADM3	HINT1	MARS1	FLNB	EYA1	DNM1L	CPOX	PLOD3	TIMM8A	MAP3K7	RPS17	OPA1	HARS1	ANXA11	RAPSN	ITGA7	BRAF	COL13A1	TCAP	ALX3	POMT1	EMILIN1	FUZ	PRR12	RPL35	POLG2	ALG14	TFG	JAG1	LRIF1	GMPPA	RPS7	COL6A1	SEPSECS	SLC5A6	MT-CO1
HP_Y_LINKED_INHERITANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_Y_LINKED_INHERITANCE	SRY	VCY	RPS4Y2	HSFY1	DAZ3	DAZ2	KDM5D	PRY	CDY1	USP9Y	RBMY1A1	CDY2A	DAZ1	DDX3Y	PRY2	BPY2	TBL1Y
HP_ABNORMALITY_OF_THE_UPPER_ARM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_UPPER_ARM	ALG12	POLR3A	LMBR1	TBX5	FLNB	NOG	COL2A1	IFT122	CYP26B1	WNT7A	MACROH2A1	MTMR14	FANCB	FZD2	KIAA0753	TMEM43	GNPAT	MYSM1	PITX1	TBX3	SRCAP	RSPO2	PTDSS1	MORC2	LMX1B	LMNA	SALL4	GSC	LONP1	TRPV4	EMD	GNPTAB	FLNA	SYNE2	POR	SLC26A2	ZIC3	ATP7A	RECQL4	TCAP	SUCLG1	LBR	TBX15	STX16	RBM8A	AGPS	FGFR2	TGFB1	EZH2	GDF5	HNRNPDL	TONSL	FHL1	DONSON	PEX5	PRKG2	GPC6	SHOX	RNU4ATAC	TMEM251	CREB3L1	TNFRSF11B	SNRPB	FGF9	DYM	LAMA5	SYNE1	IHH	FGFR1	GNAS	DNM2	SGCD	B3GALT6
HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_UPPER_ARM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_UPPER_ARM	LMNA	LMX1B	HNRNPDL	EMD	FHL1	MTMR14	SYNE1	TMEM43	SYNE2	TRPV4	DNM2	SGCD	TCAP	MORC2
HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SKELETAL_MUSCULATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SKELETAL_MUSCULATURE	HBB	POMT1	TBX5	MAP3K20	GLE1	B4GAT1	MYMK	TPM3	MYMX	TBX3	FLNA	POMT2	SIL1	LMX1B	MAP3K7	MYL2	SALL4	CRPPA	TPM2	ITGA7	FKRP	LARGE1	B3GALNT2	RBM8A	TRPV4	CHRNA1	POMGNT1	ATP6V0A2	CHRNG	ACTA1	COL4A1	INPP5K	REV3L	PMP22	POMK	POMGNT2	HACD1	ALG9	COLEC11	SELENON	CAV3	DAG1	PLXND1	FBN2	PIEZO2	CHRND	RXYLT1	FKTN
HP_APLASIA_HYPOPLASIA_INVOLVING_THE_MUSCULATURE_OF_THE_UPPER_LIMBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_MUSCULATURE_OF_THE_UPPER_LIMBS	RBM8A	LMX1B	MAP3K7	SALL4	FLNA
HP_DELAYED_CLOSURE_OF_THE_ANTERIOR_FONTANELLE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_CLOSURE_OF_THE_ANTERIOR_FONTANELLE	ASPA	POLR3A	H19	ADAMTS2	CTSK	IGF2	ATP6V0A2	GRB10	ATP6V1E1	MMP2	TBCE	SMC3	ANKRD11	MED12	ZIC1	PEX19	AMER1	GH1	RPS6KA3	HDAC4	DSE	RUNX2	ATP7A	SEC23A	FLNA	FAM111A	PEX14	NLRP3	BANF1	ATP6V1A
HP_FRECKLING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRECKLING	SPRED1	SOX18	CDKN2B	AP3D1	ERCC4	ERCC6	TP63	NF1	MC1R	PRKAR1A	POGLUT1	HPS1	ABCB6	CDK4	GPR143	CDKN2A	DDB2	XPC	BRAF	OCA2	TERT	ERCC3	XPA	ERCC2	CDH3	MLH1	BAP1	MGMT	UVSSA	TYR	POFUT1	RAF1	PSENEN	ERCC8	TERF2IP	MSH6	NBN	POT1	KRT5	KAT6A	TYRP1	PTPN11	ERCC5	ACD	MITF	PPP1CB
HP_SUBCUTANEOUS_NODULE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBCUTANEOUS_NODULE	B2M	ASAH1	TSC1	SDHD	APC	SDHB	COL5A2	COL3A1	IL10	ACVR1	GLS	PDGFRB	ANTXR2	PTEN	USF3	HLA-B	TLR4	IL12B	HMGA2	MC1R	MLX	FGFR2	KRAS	CTNNB1	OCRL	C4A	POMP	ECM1	ENPP1	IL12A	SEC23B	STAT4	IL23R	GLA	BRAF	CDK4	MEFV	FGFR1	IFNG	MMP2	PDGFB	HLA-DRB1	TNFRSF11A	IARS2	GNAS	IDH1	FBN1	COL7A1	CYLD	ERAP1	TNFRSF11B	AKT1	LEMD3	NOTCH3	MDM2	CCR1	MYSM1	NRAS	ABCC6	IFNGR1	KIF11	FERMT3	KLRC4	PORCN	COL1A1	PIK3CA	RAF1	PTH1R	NAGA	FUS	MMP14	UBAC2	APOE	DDIT3	SALL1	KLLN	COL5A1	INSR	IDH2	PTPN11	BTNL2	IL12A-AS1	DACT1	SDHC	FAS	TEK	TSC2
HP_BILATERAL_PTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_PTOSIS	IDUA	TBC1D24	PDZD8	TUBB2B	ODC1	COL2A1	KCNJ11	NARS2	CLCN3	CDC42BPB	CHRNG	LAMB2	POLRMT	OPA1	STAT3	LRP12	KIF21A	NOVA2	NGLY1	PHOX2A	COLQ	ISCU	NAA10	TUBB3	PLEC	ABCC8	IGF1	PDX1	AEBP1	FLNA	KDM6A	KMT2D	SETD5	DGUOK	PAX6	ZFHX4	SPECC1L	INS	PACS1	RAD21	NDUFS2	NRAS	SOS1	NDUFB8	KCNH1	RNASEH1	POLG	SURF1	DBH	WT1	SCO2	DNM1L	RYR1	NDUFAF3	ATP6V1B2	KDM1A	PAH	RRM2B	TK2	CERT1	ADNP	TYMS	GSN	TUBA1A	ZNF407	GCK	MAF	COL25A1	TWIST1	AUTS2	OGDHL	STAC3	ACBD5
HP_CONGENITAL_FIBROSIS_OF_EXTRAOCULAR_MUSCLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_FIBROSIS_OF_EXTRAOCULAR_MUSCLES	ZFHX4	KIF21A	TUBB3	PHOX2A	COL25A1	TUBB2B
HP_FALCIFORM_RETINAL_FOLD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FALCIFORM_RETINAL_FOLD	LRP5	FZD4	CTNNB1	TSPAN12	ZNF408	NDP
HP_CARPAL_BONE_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARPAL_BONE_HYPOPLASIA	COMP	GNPTAB	TRPV4	RBM8A	EXOC6B	NANS	SALL4	DYM	KIF22	RSPRY1	ALDH18A1	EIF2AK3
HP_BROAD_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_FINGER	KCNA1	NSUN2	CDKL5	GNAS	EXOSC2	GATA4	IFT122	SCN1B	CDC42BPB	NOG	HS2ST1	KCNH1	EZH2	DHX30	B3GALT6	FGFR2	GPC4	FGFR1	NSD1	ACAN	SNIP1	BMPR1A	FLNA	HPGD	EP300	FGFR3	MEGF8	COL2A1	PCDHGC4	MEG3	RNU4ATAC	GRM7	MEIS2	EXTL3	WDR19	AMMECR1	SETD5	ARHGEF2	SALL1	RBM8A	DLK1	CREBBP	PACS1	H3-3A	SMARCA2	GLI3	HOXD13	MAN2C1	SUMF1	ZNF141	WNT5A	CHST3	TBX5	LIG4	SLC25A22	DNM1L	GPC3	NHS	G6PC3	MED12	COL10A1	SCN2A	PTEN	EED	GNAO1	HNRNPR	SMO	KIF22	OTUD6B	ADAMTS10	TWIST1	BPTF	SMOC1	DVL3	RAB23	PYCR2	FLNB	USP9X	SATB2	DVL1	TRIM8	GJA5	FGF9	RPS6KA3	SUZ12	PSMD12	CASK	BMP2	TTC26	XYLT1	PIGQ	KNSTRN	MAP3K7	PIK3CD	ARX	DMXL2	ALX4	RTL1	NPR2	TBCK	NXN	GJA8	GRIN1	RLIM	WLS	SRCAP	PIGP	INPPL1	NEPRO	MSX2	NEUROD2	PRKG2	IFIH1	B3GAT3	PUF60	GATAD2B	PRKD1	SIAH1	POGZ	GDF5	BICRA	ADNP	SIK1	DACT1	ROR2	CTNNB1	FBN1	PNKP
HP_FAILURE_TO_THRIVE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FAILURE_TO_THRIVE	FOXP3	SLC4A1	MT-ND4	MKKS	ZIC2	NDUFA9	VPS37D	CYP27B1	YARS1	ACAD9	CTCF	ASCL1	ADAM17	SDHD	EEF1A2	PLCH1	CPLANE1	ZFP57	SERPINA1	SFTPB	LIPA	ECE1	TGIF1	ZNF699	GABRA5	SERAC1	MT-ND1	KCNJ6	BMP4	NODAL	NDUFB11	PTPN11	RMRP	NDUFS7	GNPTAB	SLC51A	POMP	RET	PGAP1	NUS1	CDT1	TCIRG1	SIX3	CLCNKA	SEC23B	NSD2	VPS51	POMC	NDUFA13	TCTN3	SH3TC2	GP1BB	PEX3	TRAK1	CYP17A1	ADH5	HCFC1	SLC39A8	IL1RN	AVPR2	COX15	ZIC3	NTRK2	PUS3	MBTPS2	ZEB2	B4GALT7	DOCK6	GPR161	DYRK1A	SLC39A4	HADHA	DLL1	SPOP	NDUFA2	CAMKMT	RBM10	STAMBP	NFKB1	UNC80	RFXANK	TINF2	HYMAI	FDXR	NFIX	SLC25A21	POLG	SLC3A1	COL6A2	CREBBP	NRCAM	POLR3A	ABCB11	CDC6	IGF2	ASS1	TOPORS	H3-3B	CACNA1A	LMNB1	EXOSC9	HSD17B4	LRBA	SLC25A13	NOTCH1	ANTXR2	CSF2RB	PEX5	MECR	VIPAS39	YWHAG	AARS1	GALC	PIK3R1	STAG2	PIGQ	PGM3	MYL2	GATA6	IGF1	FKBP6	NDUFA1	FLII	SLC12A1	AIMP1	RFXAP	MECP2	VPS33B	MCCC1	NCAPG2	MT-ND6	LBR	PEX6	KMT2A	RNU7-1	KDM5C	MT-ATP6	CSPP1	MSMO1	COG1	SPATA5	UBA5	SGO1	DYM	PIK3CA	SMARCAL1	EDNRA	SLC37A4	SLC39A13	FGF8	NDUFV2	RAI1	ATP6V1A	SLC11A1	GNB1	CDON	MPI	SLC30A9	GLI2	GRIA4	COL4A5	MMUT	LARS1	ASNS	GALT	NNT	ASL	CAVIN1	DHCR24	EFL1	CD19	GABRA2	TGM1	NDN	MIF	SLC26A3	SIK1	B3GALT6	CLCNKB	COPB2	TOM1	PPP1CB	JAK3	FTO	SLC1A3	DPM2	IGHMBP2	RAD21	NR1H4	PCGF2	LETM1	NDUFS4	MT-ND5	FGFR1	NUP214	SLC25A4	SNORD115-1	PIGB	PPM1B	FAH	ERMARD	SLC12A3	KDM6A	AGTPBP1	GABRD	CSF2RA	ADA	RFX5	PTDSS1	LHX4	SCN3A	GRM7	POLR1D	DDB2	TCOF1	ALG11	LMNA	HESX1	SRP54	RNF13	ERCC2	SELENON	COX10	PNPLA1	FARSB	UBE3B	MCCC2	CFTR	ACTB	GRB10	SLC19A3	RBPJ	PDHA1	SLC10A2	INSR	ZAP70	RYR1	SURF1	RAPSN	CDKL5	SLC26A9	RAG1	SCNN1B	SP110	TNPO2	NDUFS8	CYP24A1	TRAC	GPT2	SLC7A7	IGHM	HCN1	COG7	VAC14	NDUFS1	MRPL3	ASXL1	BAZ1B	PARN	PAX2	DGUOK	NR3C2	SEC24C	NOTCH2	PEX10	STRADA	SPINK5	TIMM50	NADK2	CASK	ELMO2	PEX16	SON	FOXH1	BSND	EIF4H	PTEN	PREPL	MTRR	MMAB	PEX11B	NLRC4	JAGN1	SHH	SNX10	MCTP2	SLC13A5	FLNA	AUH	ABCA12	MT-TF	ITGA7	GJA8	WNT2B	AGXT	ALOXE3	TCF3	MAGEL2	CARS1	POLR3K	PHKG2	NDUFAF3	MRPS2	TGFB1	SLC22A5	JAK1	ARV1	MC2R	PRDX1	CASR	LAMB3	HNRNPH1	VHL	DYNC2I1	PCSK1	ACD	FLCN	PEX12	FZR1	SYNJ1	PTF1A	HBB	CAV1	FDFT1	PRKCD	DISP1	SIM1	TRIO	LYRM7	SMO	ETHE1	ERCC5	PNPO	GPIHBP1	CIITA	STRA6	ANKRD55	NDUFA8	COL6A1	PRKACB	BRD4	CBS	ERCC6	HBA1	MGAT2	CPSF3	STIL	WDR4	MMACHC	SNRPN	SCN8A	ABCC8	CENPT	TSHB	CARS2	ACVR1	MKRN3	IRF8	MEGF10	NECAP1	POLR1C	MYMK	KMT5B	WDR11	MAP3K7	PEX13	CPS1	FGF13	OCRL	CTBP1	SSR4	METTL27	TKFC	ATP1A3	ATPAF2	STAG1	SYNGAP1	TBX1	ORC6	DCLRE1C	CD79A	MT-TH	CLCA4	AQP2	IL2RB	FGFRL1	DHDDS	GJB2	HCCS	WDR62	RAG2	H19	SLC25A22	MYOD1	G6PC3	ADAR	SHOC2	AHDC1	ERCC8	HADH	FGF12	CLMP	GNAO1	TFAM	CPLX1	PEX1	ADK	GCDH	NAGS	ERBB2	PMM2	JAG1	OTUD6B	MAP2K2	OTC	HIBCH	GRIN2D	DPAGT1	EXOSC8	FH	BCL7B	LMBRD1	HSD3B7	NRTN	SLC46A1	HSD11B2	PMPCB	MAPKAPK5	PEX19	NCF1	GDNF	MYH3	PEX7	ABCD1	LAT	ICOS	FOXRED1	EN1	SIN3A	PPP3CA	ARX	FAM111A	VPS37A	ARCN1	NR0B1	AHCY	KAT6B	PYGL	HRAS	UMPS	TGFB3	SMARCC2	DLD	CD247	CYP7B1	MED12	GABRB2	PIGG	LYRM4	MLXIPL	ATP1A2	TAOK1	NDUFB9	ERCC4	HERC2	MRPS7	TPM2	GMNN	CR2	BICRA	ROBO1	DPYD	ALG6	TNFRSF13B	CIT	ASAH1	CD3D	NDUFB3	OCA2	SKI	LPIN2	PEPD	NUP62	KRT6B	PSMB10	STT3B	NDUFS2	SH2B1	KCNJ11	SCN1B	KCNA2	PLAA	PTRH2	ST3GAL5	KMT2D	LIPT1	STT3A	OSGEP	NDUFAF8	NDUFAF5	VPS53	PEX2	PERCC1	TIMMDC1	HIRA	RPS19	DDOST	MT-CO1	PRKCZ	SETBP1	BRAF	ANO1	MT-ND3	MTO1	AMACR	DGAT1	ADAT3	EVC2	SBDS	NSRP1	EGFR	BRCA1	AGPS	MED17	ARVCF	MRPL12	FOCAD	IKBKB	ALG9	NIPAL4	ORC1	SLC35C1	TAFAZZIN	COL4A6	TDGF1	GLI1	SLC2A2	BUD23	CD79B	WWOX	MT-TK	SNAP29	NEXMIF	UFC1	SLC25A24	GCK	MT-ND2	CUBN	HMOX1	KCNB1	DPM1	CLTC	BANF1	OGDHL	MAP2K1	SLC5A1	NDUFS3	NFKB2	GJA5	MICOS13	TPM3	SUGCT	LAMC2	SCNN1A	UBE4B	GAS1	ALG8	TTC26	GALM	MT-TW	MT-TN	CTNS	PYCR1	LEMD3	HPDL	ATP6V0A2	SMARCD2	TMEM216	ZNFX1	SYT2	AMN	AKT1	DNASE2	ARPC1B	CD81	PDHX	CD40LG	RNF2	IL2RA	CYFIP2	NEUROD2	ORC4	LAMA3	JMJD1C	GYS2	AKR1D1	CD3G	SLC34A3	RNU4ATAC	IGLL1	PTCH1	FAM149B1	SUCLA2	PEX26	SALL1	ZSWIM6	MT-CO3	TERT	TNFSF12	CHRNA3	KIF1B	GTF2H5	UBA2	EOGT	COX5A	CYP11A1	CHRNG	NDUFB10	NACC1	AASS	ABCD4	RASGRP1	C2orf69	POLA1	FBXL4	DEAF1	DNM1	RIT1	ACTA1	SAR1B	CYP11B2	CASZ1	CACNA2D1	KIAA0753	CDK19	PRF1	ALOX12B	IPO8	IDH1	TRMT10C	KRAS	CHRM3	ACADS	PDX1	IFT140	IL7R	NSMCE3	SUCLG1	SLC25A15	RRM2B	HSPG2	GLB1	TCF4	PBX1	MT-TL1	LGI3	GALE	SKIC2	NDUFB8	SEMA3D	TGDS	SCO1	TBL1XR1	RREB1	NALCN	KCNJ1	ALG3	SCN2A	COX4I2	RTEL1	SMC1A	ACTL6B	DNMT3B	EPCAM	NUBPL	CEACAM6	TYMS	CD96	ATP7A	ABCA3	PCCB	FCGR2A	NDUFA12	TJP2	ALG12	HLA-DQB1	NDUFAF2	GJA1	MYH7	KMT2C	SLC6A8	NDP	PSMD12	ORAI1	DSP	GFAP	EARS2	GCLC	PRDM16	NDUFA11	TXNRD2	SRD5A3	EHMT1	DMXL2	KIAA0586	ASXL3	XPC	POLG2	SKIC3	RPL5	DEGS1	TMEM106B	ALDOB	KIF7	NDUFA10	HFE	FANCF	PDPN	COA8	FOXP1	LRPPRC	PCCA	MBL2	AP1B1	LCK	MARS1	POU1F1	TNFRSF11B	SCO2	MTTP	MT-TS2	CLIP2	HACD1	FIG4	KANSL1	PLP1	MT-TQ	TMEM165	ENPP1	MT-CYB	CYP2R1	SC5D	NDUFA4	PDE6D	COL6A3	SOX9	PUS1	SPTBN1	SDHB	SLC16A2	BLNK	FBN1	IL21R	PWRN1	NDUFV1	RTTN	CARMIL2	EDNRB	GNB2	LTC4S	EPRS1	CASP8	PWAR1	KCNN4	EDN3	MRAP	KRT5	PACS1	TASP1	TMEM126B	VPS45	HEXB	COG4	ARHGAP31	ELAC2	PSAP	UQCC2	ATP6V0A4	STAR	ALAD	MT-TV	SLC39A7	NDUFAF1	UNC45A	TK2	MMP23B	SLC6A14	TMPRSS15	COMT	ADCY5	BPTF	ELN	ERCC1	RARB	HLA-DQA1	PET100	ATP6AP1	PHOX2B	EP300	FUT8	RIPK1	GGPS1	ATM	SCNN1G	MCEE	IFNG	PKP1	WDR26	TCN2	MDH2	ATP8B1	LRRK1	BSCL2	NFASC	PEX14	HBA2	MPV17	ATP7B	SIL1	NFU1	PTPN22	CERS3	TLK2	SMARCA2	NDUFS6	PIGP	YARS2	RAB3GAP1	ACSF3	NONO	CELF2	NDUFAF4	RAC2	POGZ	CEACAM3	TBX4	STX1A	AMER1	KRT14	COG8	DACT1	VDR	SDHC	FMR1	LIG4	PNP	HIKESHI	EIF5A	IL2RG	CYC1	PHGDH	MAP3K20	ITCH	ABCC6	CLCN3	GLYCTK	TFRC	AFF3	VRK1	HIVEP2	SLC34A1	FOS	RELB	MYO5B	EXOC6B	IRF2BP2	CLDN16	PHKA2	CACNA1B	FGD1	BMPR1A	NEUROG3	SLC9A3	SPEN	MIPEP	DLL4	IL21	PLAGL1	AP3B2	HDAC8	ALDH18A1	PNPT1	CNKSR2	ACO2	SDHA	COX7B	COL7A1	ARFGEF2	PSMC1	SLC25A46	MPDU1	GTF2IRD1	OCLN	CHD7	AARS2	PSMB9	MMAA	EBP	POC1A	TWNK	BCS1L	ACTG1	CD3E	NFE2L2	ERCC3	MTFMT	ALPL	MRPS28	PSAT1	RARS2	SEC31A	CA12	TMEM70	TRIM8	VPS13B	OFD1	SLC38A3	TTN	COL12A1	GTPBP2	STING1	NGLY1	DHCR7	PSMB8	IQSEC2	BRF1	PPARG	TLL1	ERBB3	LUZP1	UBR1	PRPS1	NDUFA6	SARS2	SZT2	DCTN4	NSUN3	RFT1	RFC2	ABL1	DKC1	RBCK1	PYCR2	TBL2	MYMX	PTPN2	PPFIBP1	MTR	GALK1	ACOX1	GTF2I	TRAPPC2	DOLK	KCNAB2	MCM4	PARS2	SEMA3C	GAA	NELFA	EPG5	CYB5A	GTPBP3	CSNK2A1	HPD	SLC17A5	KCNA1	DNAJC30	NPAP1	RERE	STAT3	GNPAT	HTRA2	ATP6V1E1	USF3	GLUD1	BTK	KARS1	BRCA2	H4C5	HMGA2	SNORD116-1	SLC35A2	AK2	STAT4	RECQL4	KRT6A	TACO1	TRMT5	PROKR2	DALRD3	SREBF1	EXOSC3	XPA	TPI1	BCAP31	SMC3	MMADHC	NLRP1	DNM1L	DNAJC21	COG6	ZMPSTE24	KIF15	KRT17	POLR1B	NHLRC2	KRT16	SLC25A3	ATXN7	ATP5F1A	USP7	PIEZO2	GABRG2	HSD3B2	LRRC8A	HNRNPH2	MTRFR	GJB6	SMOC1	LINS1	GSTM3	GATM	NDUFAF6	MVK	MT-CO2	STAT5B	GBE1	TNFRSF13C	POLR2A	NIPBL	NKX2-1	PSMB4	GTF2IRD2	LIMK1	CDC45	OTULIN	MS4A1	IARS1	GRIN1	HADHB	TMEM270	SMPD1	INS	TRIT1	GABBR2	ARID1B	SFTPC	TBR1	ECHS1	COX4I1	DYNC2LI1	SLC1A2	CUL3	KLLN	SMAD4	TWIST2	MRPS14	CA2	AGPAT2	UFD1	EVC	PRKACA	MTHFR	GBA1	PNKP	FUCA1	TALDO1
HP_INTRAUTERINE_GROWTH_RETARDATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRAUTERINE_GROWTH_RETARDATION	KIF2A	SEMA3E	ZFP57	ZNF699	HYLS1	SMARCB1	RNU4ATAC	TERT	ADAR	PRKAR1A	APPL1	NUS1	CDT1	IFIH1	NSD2	RNF113A	PCDH12	TCTN3	GP1BB	DISP1	SMARCA2	TAPT1	COX16	CCDC8	DYRK1A	OBSL1	PCNT	RBM10	UNC80	FANCC	TINF2	NDUFAF8	HYMAI	ARID1B	PALB2	ZBTB18	GUF1	NIN	TUBA1A	NRCAM	POLR3A	CDC6	STAG1	IGF2	BRCA2	ERCC5	JAG1	SLC25A13	TRIP13	WNT4	WARS2	AARS1	GDF1	SCUBE3	MKS1	NKX2-5	GATA6	IGF1	NDUFA1	GINS1	NCAPG2	KMT2A	RNU7-1	ARID1A	MAD2L2	BRPF1	DBR1	SMARCAL1	NDUFV2	NEK9	GJA5	SLC30A9	PRDM13	ABCC8	PIK3R1	BRIP1	ZNF335	DHCR24	TBCE	FTO	IGHMBP2	RAD21	GNA11	PCGF2	LETM1	NDUFS4	GCK	DLL3	SNORD115-1	SRPX2	ATP7A	LAGE3	PTDSS1	NBN	IGF1R	SEC24D	NEUROD1	SAMD9	RHCE	FARSB	MADD	IBA57	GRB10	INSR	MEG3	TGDS	RB1	FLT4	FANCI	SIX3	PAH	CTU2	RFWD3	TRMT10A	COG7	NDUFS1	ERCC8	ASXL1	BIN1	PARN	MRPS25	SLC35A2	GTF2E2	DOK7	SEC24C	WDR73	XPR1	YIF1B	SDHAF1	FLI1	PIGG	SON	NDE1	MTRR	CKAP2L	GLB1	KIF14	SMC1A	MCTP2	KDR	PDSS2	SOX11	LRRC32	CARS1	COQ4	NDUFAF3	RFX6	SDHD	GNAS	AFF2	TRAPPC11	ACD	PTF1A	CCNQ	FDFT1	BUB1	STRA6	PRKACB	BRD4	PLXND1	WDR4	ITPA	MKRN3	HMGA2	SUFU	STN1	GPKOW	XRCC4	CTBP1	SATB1	TBX1	QRSL1	ORC6	FGFRL1	NDUFB7	TONSL	H19	INS	BUB1B	PI4KA	RTL1	SMPD4	HADH	GLIS3	TFAM	CPLX1	FANCL	LEMD2	GTF2H5	OTUD6B	SIX2	PDX1	TBC1D20	HSD11B2	TPRKB	TRAIP	ERCC2	SFXN4	TOP3A	NUP88	CRKL	RAB3GAP2	EFEMP2	PPP1R15B	CEL	GTPBP3	RERE	NKX2-6	SMAD4	ARCN1	RAC1	GFM1	USB1	MUSK	SHH	NOS3	DKC1	BMPER	NDUFS8	DONSON	ERCC6	MLXIPL	NDUFB9	TUBGCP6	PTCH1	DDX11	HERC2	SMARCC2	TTC7A	GMNN	PHGDH	MAPK1	FGF8	XRCC2	CENPE	NDUFB3	STT3B	ERCC3	NSUN2	ELN	GATA4	KCNJ11	NUP133	PLAGL1	TBX6	NDUFS2	SNRPN	OSGEP	NDUFAF5	DNAJC19	JAM2	FAM20C	HIRA	RPS19	GLI3	RHAG	SDHB	COQ9	MT-ND3	HDAC6	DNMT3A	FLT1	SOX4	EVC2	LMBRD1	NUP85	DLK1	CREBBP	KLF11	SKIC2	NDUFA10	EMG1	ARVCF	FOCAD	PUF60	ORC1	COG1	SLC35C1	FANCF	GATC	GLI1	CTC1	SLC25A24	NUP188	KMT2B	RELN	MT-ND2	TYMS	LONP1	CDKN1C	CORIN	SEMA5A	RAB3GAP1	NDUFS3	CWC27	KATNB1	P4HB	FANCM	TDGF1	HBB	ALG8	MESD	SDHA	PYCR1	PLK4	LEMD3	DEF6	ERCC1	ATP6V0A2	EPB41L1	DPF2	NF1	PPP2R5D	RNF2	ORC4	JMJD1C	RIPPLY2	FANCE	LMNA	FANCG	RAPSN	TRIM37	SNRPB	BCS1L	CNOT1	CHRNG	NDUFB10	CTSK	FANCB	GATB	CUL7	HES7	UBE2T	RNASEH2A	ADGRG6	IDH1	WASHC5	CANT1	SMARCE1	ACADS	MT-ND1	FLVCR2	SUCLG1	ATP6V1A	COX6B1	COQ7	DHCR7	FAM111A	PDHB	PSPH	TIMM22	SMARCA4	SCO1	LIG4	ZMPSTE24	RREB1	NALCN	KAT6A	RTEL1	TAF1	NUBPL	LAMA5	VANGL2	GFM2	CDCA7	BLK	USP9X	ASXL2	DST	NDUFS7	YY1	DHDDS	ABCB7	NDUFA11	RAD51C	ASXL3	SKIC3	RAF1	NPM1	FANCA	ATR	GATAD2B	PDE4D	FIG4	PRKDC	GATA5	KANSL1	MESP2	SMARCD1	NUP107	SC5D	BUB3	NDUFAF2	SPTBN1	CENPJ	TFAP2A	PWRN1	NDUFV1	RTTN	CHD7	WRAP53	SLC20A2	PWAR1	TUBGCP4	FGFR1	CLPB	FBLN5	ALG12	ZIC2	BRCA1	TMEM126B	CDK10	ZFPM2	UQCC2	B3GLCT	CDK13	NDUFAF1	B3GALT6	BLM	COMT	SF3B4	RARB	FLNB	POLA1	PSAT1	FUT8	KDM6A	ATRIP	COQ2	MAGEL2	FOXH1	LARS2	XYLT1	NAA10	ALX4	ERCC4	BRAF	RBBP8	LFNG	PTCD3	NDUFS6	NDUFA6	ALDH18A1	PDGFRB	ZPR1	AUTS2	MYH3	NDUFAF4	POGZ	TBX4	PET100	PTPN11	POLE	FMR1	TERC	CEP152	DCLRE1B	HNF4A	EIF5A	ADAT3	RHD	IARS1	TGIF1	RPL10	WNT7A	COG5	CTNND2	MYOD1	MYORG	LTBP1	RAB18	CLCN7	HDAC8	PNPT1	NHP2	PDGFB	NOP10	NODAL	CEP57	UQCRFS1	PDE6D	PAX4	NFE2L2	RPL11	DSP	CHRND	MTHFR	CITED2	CTDP1	TMEM70	MRPS28	MMACHC	SEC31A	VPS13B	CEP290	MPLKIP	UBR1	PRPS1	MBTPS2	KIF5C	PKLR	ABL1	FANCD2	NFIX	MCM4	ZMYM2	PEX2	NELFA	DLL1	PRORP	IL6ST	LIFR	EXOSC9	NPAP1	ESCO2	JUP	ADGRG1	CDC42BPB	STAT3	BCR	ATP6V1E1	NIPBL	RIPK4	NDUFB11	TSFM	TELO2	PLAG1	SNORD116-1	RECQL4	COG4	TIMMDC1	CCDC134	GLI2	FOXRED1	TARS1	TOR1A	TMEM216	PDHA1	BCAP31	SMC3	PRIM1	SLC26A2	COG6	SEC61A1	DNAJC21	ATP5F1A	PIEZO2	ARL6IP6	FBN1	ARID2	TUFM	STT3A	MCM5	TP53RK	RMRP	SLX4	PEX5	ALG1	PLOD3	CDC45	HHAT	SLC18A3	CDON	STOX1	CHRNA1	HNF1A	SIN3A	NSDHL	OTUD5	GAS1	DYNC2LI1	SHQ1	HOXD13	FKTN	RAD51	GBA1	UFD1	EVC	PRKACA	EP300	TALDO1
HP_SMALL_FOR_GESTATIONAL_AGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_FOR_GESTATIONAL_AGE	ERCC6	PNPLA6	H19	BLM	FBXL4	WDR4	CTCF	CUL7	SNRPN	ASCL1	NCAPD3	FANCA	ABCC8	PDHA1	ZFP57	FBN1	RTL1	ZNF699	HMGA2	RPS26	FANCD2	CNOT1	DNM2	IGF2	RPS24	CTBP1	RET	PRKAR1A	GATA1	NSMCE3	PLAGL1	CLCNKA	VARS2	MAGEL2	COQ7	SYNE1	RPS27	PLAG1	PBX1	FANCE	FGFRL1	NDUFB7	ADA2	TONSL	TIMM22	SLC26A2	SKIC2	UQCRC2	SPR	TAPT1	RPS28	RECQL4	CREB3L1	ERCC5	DYRK1A	KCNJ1	CEP57	UQCRFS1	POC1A	RPS6KA3	STAMBP	MAMLD1	FANCC	RPL15	HYMAI	HNF1A	PRPS1	ACADVL	RPL11	SIX2	NDP	GUF1	TP63	COL1A2	ABCB11	RPS29	ALG12	CREBBP	TRAIP	STAG1	LMBRD1	TMEM70	RPL27	ERCC2	RPL35A	MAPKAPK5	NCAPH	MYH3	NSUN2	NGLY1	YY1	PPP1R15B	UBR1	SIN3A	DLK1	GATA6	IGF1	SLC12A1	VPS33B	INS	SMAD4	MRPS16	RPS10	CLCNKB	SKIC3	PPFIBP1	POLR3A	WDR73	MUSK	GALK1	GRIN2A	SMARCAL1	CNTN1	PQBP1	AR	NECTIN1	EIF2S3	LRP5	PIK3R1	NKX3-2	FIG4	CCDC8	ZNF335	KANSL1	RPL18	NDN	ALB	RPL31	OCA2	SRP54	AUTS2	RPL5	IGHMBP2	RNU4ATAC	LETM1	NPHS1	CPLX1	MSX1	SLC16A2	NUDT2	B4GALT1	SRCAP	DTYMK	RPL26	NR1H4	KARS1	COX20	IRF6	CAV1	GMNN	NSD2	MTO1	FLT1	SALL1	MEG3	TSHR	FARSB	THOC2	CYB5A	SBDS	TSR2	CDAN1	MBTPS1	GRB10	PUF60	GK	EPCAM	ORC1	SLC35C1	NCAPD2	DNAJC21	ASH1L	ACTB	CENPE	TRMT1	RPS19	KIF22	PTS	EMG1	VPS13B	SHROOM4	TRMT10A	SLC25A24	NUP188	POR	HSD11B2	FZD4	CYB5R3	RPS15A	LONP1	RPS20	PAX2	CDKN1C	CORIN	GTF2E2	PHOX2B	EP300	TBL1XR1	CAMK2B	OBSL1	HADHA	BSND	INSR	GCK	TAF13	COG7	KCNJ11	NSF	HUWE1	RPS17	DEF6	MCTP2	RBBP8	PPP2R3C	CRIPT	THRB	PAM16	STOX1	FAM111A	COL1A1	CARS1	PTCD3	NDUFA6	ABCB4	RPL35	YIPF5	ATP8B1	TBR1	OTUD5	PIK3C2A	ANAPC1	FLCN	CLTCL1	CCNQ	ALG8	PTF1A	RPS7	PET100	HADHB	DALRD3	CTNNB1	BUB1B	TALDO1
HP_DISPROPORTIONATE_TALL_STATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISPROPORTIONATE_TALL_STATURE	AKT1	CBS	ZDHHC9	SMAD3	COL2A1	FKBP14	LETM1	FBN2	ZNF469	FBN1	ASXL3	PLOD1	DLG4	UPF3B	HPGD	MED12	SMAD2	NSD2	THSD4	POR	RET	PTEN	SMS	ATP6V1E1	HERC1	PIGG	ATP6V1A	MFAP5	COL1A2	TGFBR2	NKAP	CHST14	CPLX1	LOX	NELFA	LARS2	CTBP1	DSE	TGFBR1	MAN2B1
HP_LARGE_FOR_GESTATIONAL_AGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_FOR_GESTATIONAL_AGE	HNF4A	IFT74	FIBP	KCNJ11	BLK	ODC1	NDST1	KMT2C	GCK	EDNRB	MTMR14	AKT2	PIGN	ABCC8	RIT1	MYF6	CEL	ABCC9	PIGA	RYR1	MEG3	RTL1	DLK1	PIGL	APPL1	ANK3	NEUROD1	BRAF	TMCO1	KLF11	MTOR	HNF1A	GLI3	DNM2	SOS1	PTCH1	HERC1	INS	SHOC2	UCP2	PTEN	EHMT1	PAX4	PIGT	SUFU	RNF135	BIN1	DIS3L2	RAF1	PDX1
HP_DEATH_IN_INFANCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEATH_IN_INFANCY	BMPR1B	VPS35L	PMS1	KLHL40	EXTL3	PRPS1	COX5A	NDUFA2	C2orf69	ITPA	ASCL1	TRIP11	AFF3	SFTPB	MYL2	LIPA	LTBP4	HDAC6	JPH2	WDR11	SIK1	FRAS1	DNM2	RPL3L	PPIL1	RET	NPC2	SUCLG1	DYNLT2B	ACTG2	ATP1A2	QRSL1	DPM2	PEX26	SLC25A4	NDUFS4	MSH2	CDK5	PSAT1	FAN1	PEX3	MPDU1	LMOD1	CPT2	COX16	GPR161	GDF5	PMM2	LIPT2	AARS2	MBTPS2	PEX16	SMPD4	SUOX	FGFR3	TFAM	KRAS	ABCA3	HSPG2	FREM2	PEX6	ALPL	TMEM70	ERCC5	GFAP	NADSYN1	GCSH	ECHS1	PEX19	MLH1	FAM20C	VIPAS39	LAT	DHCR7	RMND1	PSAP	SCO2	WT1	PEX1	FAM111A	DCX	AIMP1	VPS33B	ASXL3	FGA	CD96	DPH5	PIK3CA	PEX13	PQBP1	KIF20A	ACOX1	CNTN1	BRAT1	STX3	DOLK	FGB	ARX	COASY	CRTAP	TTC7A	ANTXR2	ROBO1	EFL1	SCYL2	ROR2	FXR1	STAT2	POMT2	ITGB4	NRAS	NR1H4	NUP214	MYL1	PIGB	GLDC	FANCB	HTRA2	FGG	ERCC2	OAS1	PEX11B	TSFM	LHX4	LTC4S	LAMA3	MYLK	PEX12	MRPS22	HESX1	LMNA	PROKR2	SLC26A2	RBM8A	COX10	PLEC	RAD51C	EPG5	TSEN2	MYO5B	MADD	WASHC5	EMG1	TPI1	IKBKB	MRPL44	BOLA3	TOR1A	ORC1	REV3L	ALG14	PEX5	DNM1L	PEX10	GPC3	PIGY	CDC40	GATC	ERCC6	COG6	MSH6	FARS2	NFS1	CRLF1	EPCAM	SMO	PLXND1	TNFRSF11A	SLC25A24	PEX2	PPCS	SMOC1	CCDC22	LIPT1	CLCF1	ATP6AP1	TUFM	PHOX2B	TGFBR2	GPC4	GRIP1	PEX14	KRT5	PMS2	LIFR	LAMC2	UBR1	NADK2	CDON	FLI1	NEB	SLC25A46	ALG8	GLB1	PIGA	ALG1	NSF	AP1S1	GBA1	ATRX	ERCC1	LMOD3	SMARCD2	ACADVL	CRIPT	ZNFX1	MESP2	NXN	MLH3	NFU1	DLL3	OCRL	SCN4A	MRPS34	JAM3	AIMP2	MYH11	TSEN54	IDUA	LAMB3	CD3G	RNU4ATAC	GRM7	TSPYL1	PTF1A	NDUFAF3	TRMU	SLC25A19	PET100	ACAD9	SNRPB	ETHE1	AMT	POLG2	TMEM260
HP_SEVERE_FAILURE_TO_THRIVE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_FAILURE_TO_THRIVE	ZMPSTE24	RTTN	UNC80	PRPS1	FIG4	INSR	HYMAI	PEX7	VAC14	LMNA	ERCC6	ZFP57	ASXL1	BSND	CLCNKB	NALCN	CLCNKA
HP_HEMIHYPERTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMIHYPERTROPHY	AKT1	IGF2	HNF1B	HRAS	NRAS	DNMT3A	PIK3CA	KCNQ1OT1	KRAS	AKT2	H19	RASA1	CDKN1C	KCNQ1	RNF125	ZNF699
HP_MILD_POSTNATAL_GROWTH_RETARDATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MILD_POSTNATAL_GROWTH_RETARDATION	PTPN2	ERCC8	IL2RA	PTRH2	IL2RB	CCBE1	ADAMTS3	CDAN1	FAT4	ERCC6	PTPN22	PRKAR1A	STAT4	ANKRD55	IGFALS	CD247
HP_FAILURE_TO_THRIVE_IN_INFANCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FAILURE_TO_THRIVE_IN_INFANCY	FOXP3	PSMB10	DNAJC30	NPAP1	COX5A	ITCH	ABCC6	VPS37D	YARS1	POLA1	SNORD115-1	DEAF1	SLC16A2	CSF2RA	ECE1	MKRN3	PWRN1	EDNRB	IRF2BP2	LTC4S	PTPN11	KRAS	SNORD116-1	SLC35A2	PWAR1	RECQL4	SETBP1	BRAF	METTL27	EDN3	TKFC	SREBF1	NSMCE3	ELN	CTNS	MCCC2	SLC39A8	IL1RN	COG4	SEMA3D	COG1	GTF2IRD1	MYOD1	PUS3	MCCC1	RAI1	RET	DYRK1A	KIF15	SPOP	SCNN1B	BUD23	NFKB1	SP110	FGFR1	ERBB2	TK2	ATP7A	MAP2K2	BAZ1B	BPTF	ERCC1	HBB	MAP2K1	PSAT1	BCL7B	MLXIPL	NRTN	VPS13B	NFKB2	SLC25A13	CSF2RB	NDUFA4	NCF1	GDNF	SCNN1G	ABCD1	PSMD12	SCNN1A	MVK	SON	MAGEL2	IQSEC2	EIF4H	ICOS	TNFRSF13C	ERBB3	GTF2IRD2	LIMK1	HPDL	OTULIN	FKBP6	FLII	CD96	RFC2	MS4A1	COG8	CD81	TBL2	UNC80	HADHB	PYGL	CARS1	TMEM270	HRAS	TGFB3	IL2RA	TNFSF12	GTF2I	HADHA	FOXP1	SLC30A9	SEMA3C	HERC2	CLIP2	RAC2	FIG4	CR2	FDFT1	CD19	PRKCD	TNFRSF13B	SMO	STX1A	ENPP1	COPB2	TOM1	JAK3
HP_SLENDER_BUILD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLENDER_BUILD	KBTBD13	KLHL41	POLR3A	COL6A3	KANSL1	FARSB	TGFB1	CIC	WRN	GRIA3	NSDHL	NEB	NONO	TIMM50	FBN2	MYPN	MED12	STRADA	HERC1	TYMP	POLG	TPM3	DNA2	ACTA1	SARS1	TPM2	TUBB4A	COL6A2	UPF3B	COL6A1
HP_PROTUBERANT_ABDOMEN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROTUBERANT_ABDOMEN	IDUA	GNPTAB	SMPD1	DLK1	INPPL1	MTOR	PSAT1	CYP27B1	IFT122	DYM	SLC37A4	TXNDC15	KIAA0753	COL2A1	BMPER	LBR	TRIP11	LIPA	CYP2R1	PSMB8	GNE	COL11A1	KAT6A	COL11A2	MEG3	IFT52	NKX3-2	SLC26A2	FLNB	FGFR3	PTH1R	RTL1	G6PC1	MESP2	VDR	SMARCAL1	FBN1	SLC35D1	DLL3	GBA1
HP_OMPHALOCELE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OMPHALOCELE	PIGN	LRP2	FGFR1	TWIST2	TTC7A	BHLHA9	FOXF1	RIPK4	PTCH1	HYLS1	COL11A1	MEG3	RAB23	DYNC2I1	RTL1	FRAS1	PAFAH1B1	TSHB	MYLK	CDKN1C	WDR35	COL11A2	FREM1	ACTG2	SPECC1L	PI4KA	DLK1	HIC1	DACT1	FLNA	TMEM216	ZIC3	LMOD1	GPC3	MBTPS2	NFIX	IFT80	TMEM94	MAMLD1	MMP2	CD96	FREM2	MTHFR	VANGL2	DVL3	DYNC2H1	PPP1R12A	IFT81	GPC4	GRIP1	ISL1	MKS1	LONP1	PPP2R3C	FLNB	ALG9	TP63	PORCN	YWHAE	CHUK	IGF2	CHD7	THRA	MYH11	DYNC2I2	MASP1	MMP14	AR	NEK9	GAD1	NXN	HOXD13	KCNQ1OT1	AMER1	TRRAP	CEP120	KCNQ1	MID1
HP_DIASTASIS_RECTI	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIASTASIS_RECTI	RTL1	SHPK	GNPTAB	PORCN	DLK1	MTOR	IGF2	EZH2	H19	ELMO2	CHST14	MASP1	FOXF1	GPC4	MEG3	B3GLCT	CHAMP1	COLEC10	COLEC11	SOX6	KCNQ1OT1	PPP2R3C	CDKN1C	KCNQ1	TBCK	GPC3	PIGQ
HP_ASCITES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASCITES	DNASE1L3	FSHR	EIF5A	EOGT	GNA11	NR1H4	POU2AF1	RHBDF2	ABCC6	BUB3	F5	STAT4	FAH	CEP57	CD55	DCDC2	LTBP4	JAK2	GNB2	PRKAR1A	TMEM67	CCBE1	ADAMTS3	FAT4	ATP6AP2	TSC1	MRPS22	DLL4	TSC2	NPC2	PKHD1	DZIP1L	ASXL1	FARSB	CYBB	KRT18	SPIB	FLI1	FOCAD	PIGA	ALG9	RBPJ	ARHGAP31	TAPT1	GBA1	BUB1B	AGGF1	DOCK6	ATP7B	TCF4	LBR	OSTM1	TET2	HFE	TFAM	SP110	IRF5	WDR35	DIS3L2	PRKAG2	LIPA	RHD	ARL6IP6	MYBPC3	BMP2	ABCB11	GIMAP5	GPR35	DGUOK	CALR	HSD17B4	MST1	NOTCH1	CD27	IRAK1	TRIP13	WT1	PIEZO1	MMEL1	GBE1	ALG8	NPC1	TTC26	PRG4	DEF6	FAM111A	CBL	MPV17	IL12RB1	SPP1	RNU7-1	SMPD1	TRIM37	RUNX1	PLVAP	SEMA4D	KIF20A	ABCB4	SOX18	MDFIC	ATP8B1	TNPO3	IL12A	MEFV	ERCC4	SCARB2	NEU1	USP18	SRSF2	GALT	PRKCSH	TNFSF15	EWSR1	ASAH1	BUB1	EIF2AK3	ENPP1	GUSB	SLC17A5
HP_PROMINENT_UMBILICUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_UMBILICUS	ZMPSTE24	BSCL2	FGD1	LMNA	CAVIN1	AGPAT2	KAT6A
HP_ANTERIORLY_PLACED_ANUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIORLY_PLACED_ANUS	DVL3	FGF8	CDK8	DLL1	FOXH1	NDUFB11	FREM1	UBR1	PTCH1	KYNU	DCHS1	PTDSS1	ERCC4	COX7B	PIGW	TDGF1	CDC45	PIGY	PIGV	NODAL	PGAP3	GLI3	FGFR2	C2CD3	RECQL4	SETBP1	DISP1	PIGO	DDX6	POR	RFX6	RRAS2	ESCO2	CDH11	ATN1	DDB1	SIX3	MED12	GLI2	NFIX	SNRPB	CHD4	SALL1	B3GLCT	STIL	ZIC2	PGAP2	PORCN	SUZ12	CDON	TGIF1	ACADVL	SLC25A24	DACT1	TP63	PIGL	GAS1	TWIST2	FAT4	SHH	HCCS
HP_ABNORMAL_RIB_CAGE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RIB_CAGE_MORPHOLOGY	BCOR	FGF8	CHRNG	DLL1	ARSB	SEMA3E	ODC1	CYP27B1	IFT122	ABCD4	HSPG2	MATN3	TMCO1	MTMR14	CUL7	ARSL	HES7	IFT43	GPC4	LBR	IDS	KYNU	FBN1	ACAN	CASZ1	COL11A1	MEOX1	IDH1	PPP3CA	ORC1	DYNC2I1	RTL1	WASHC5	B4GAT1	PTPN11	CHRM3	GNPTAB	LMOD3	IFT140	CDT1	WDR35	LRP5	COL11A2	UBA1	TRPV4	NSD2	CTNS	SLC26A2	DHCR7	NAGLU	SEC24D	GLI3	IL1RN	DYNC2H1	TAPT1	MESP2	ANKRD11	XYLT2	ZMPSTE24	CREB3L1	CCDC8	KAT6A	GPX4	COL10A1	TTC21B	RRAS	OBSL1	FGFR3	SKI	BMP2	RIT1	HNRNPR	DYM	LAMA5	H19	ORC4	ADAMTS10	COL1A2	PTH1R	ALG12	CDC6	DYNC2I2	LZTR1	MTX2	DDRGK1	PCYT1A	PLCB3	CFAP410	PIEZO2	GDF6	PRDM16	SCUBE3	NALCN	GATA6	C2CD3	KIAA0586	HRAS	RUNX2	KMT2A	PTCH1	CSPP1	COG1	POLR3A	PDPN	CHD7	PRKG2	ACP5	ATR	NEK9	GLE1	MTM1	IRF6	SGSH	TNFRSF11B	ATP6V1B2	EVC2	EXT2	TBCE	EFL1	CEP120	ROR2	SRP54	GAS1	MAN2B1	CYP2R1	SOX9	PCGF2	LETM1	CPLX1	IKBKG	EBP	DLL3	TNFSF11	CENPJ	FOXF1	ERMARD	COL2A1	DYNC2LI1	GABRD	ADA	FGFR2	PTDSS1	NRAS	BRAF	IGF1R	ABCC9	FUCA1	INTU	ATP7A	KLHL41	UBE3B	CSGALNACT1	SBDS	FLNA	DONSON	SCARF2	P3H1	GPC3	SOST	CHST3	WNT3	TBX15	CLCN7	SELENON	ANTXR1	FLNB	STIL	MMP23B	TNFRSF11A	TGIF1	PRKACB	VAC14	MEG3	RMRP	PRKACA	COMP	CCDC22	AKT1	FUZ	IGF2	RAB5IF	IFT57	NEB	FLI1	SON	SNX10	GLB1	TMEM53	NFASC	NXN	EXT1	PAM16	LFNG	OCRL	SRCAP	EZH2	DNM2	TRIP11	PUF60	MYH3	GLI2	SNRPB	SLC35D1	CILK1	IFT80	ZIC2	SOS1	AMER1	DACT1	VDR	MGAT2	WDR19	B3GALT6	AFF3	NAA10	HDAC6	LMNA	POP1	MAP3K7	PAX3	CSF1R	GPKOW	CBL	RNU12	SPEN	CTBP1	RRAS2	KLHL40	XYLT1	DYNLT2B	ORC6	WNT4	INPPL1	RTTN	FGFRL1	TBX5	SIX3	TENT5A	GNS	MRAS	EXOC6B	PEX1	KRAS	CDON	JAG1	IHH	WNT7A	MAPK1	CHRND	PLOD1	PAICS	ALPL	IFT172	VANGL1	IFT81	BGN	FOXH1	AIFM1	CANT1	KDELR2	MGP	LMX1B	TDGF1	LUZP1	TRPV6	DLK1	FAM111A	SMAD4	PPIB	RECQL4	PORCN	RPS26	MUSK	SLC34A1	PAX7	TRAPPC2	SUFU	BMPER	PIGG	KCNAB2	TFE3	ALDH1A2	CRTAP	NKX3-2	GMNN	GDF3	AR	BIN1	NELFA	HGSNAT	ARSK	HHAT	EVC	MAF	SHH	TBC1D24	PTCH2	SH2B1	GATA4	SETBP1	CDC42BPB	TBX6	RERE	NIPBL	FIG4	GNPTG	RPS19	RYR1	VPS33A	ACTA1	PRKCZ	DNMT3A	NOG	RBM8A	SOS2	POR	CEP152	COL1A1	SOX2	RAB33B	PTEN	TOR1A	GDF11	SPRED2	KCNJ8	EIF2AK3	PRIM1	DNAJC21	SF3B2	LRP4	HERC1	NEK1	SMO	SF3B4	RASA2	RAF1	BANF1	ACTB	MAP2K1	CPLANE1	MYF5	SIX6	LIFR	P4HB	MYF6	UBE4B	FERMT1	MESD	PHEX	NODAL	CDC45	ANK1	SERPINH1	DISP1	MMP13	DDR2	MAMLD1	CHRNA1	ESCO2	IDUA	RIPPLY2	TCIRG1	GALNS	NSDHL	KCNQ1OT1	SLC34A3	B3GAT3	RNU4ATAC	OFD1	EFNB1	APC	SALL1	USP18	HOXD13	WNT1	CA2	TBCK	RSPO2	GUSB
HP_OVERGROWTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVERGROWTH	HNRNPK	FIBP	H3-3B	FAM20A	KMT2C	HSPG2	PIK3CA	ESR1	NF1	NSD1	GPC4	GPR101	PIGA	MEG3	RTL1	NRAS	DLK1	CAMK2A	CDKN1C	EED	HRAS	GPC3	EFEMP2	TGFB3	IGF2	SETD2	EZH2	DNMT3A	KRAS	PIK3R2	FBLN5	HERC1	PTEN	EHMT1	SOST	RNF135	KCNQ1OT1	DICER1	SUZ12	NFIX	KCNQ1	PDGFRB
HP_ABNORMAL_ILEUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ILEUM_MORPHOLOGY	RBM8A	FGFR1	BRCA1	PI4KA	BRCA2	PPP1R12A	FANCB	TTC7A	MAD2L2	FANCA	FOXF1	UBE2T	FANCM	FANCI	MYH11	GPC4	FANCE	FANCF	GMPPB	SLX4	RELA	FANCG	CARD8	BRIP1	ERCC4	FANCL	TNFAIP3	DIS3L2	RAD51	RFWD3	RAD51C	XRCC2	PALB2	FANCC	GPC3	FANCD2	GTF2H5
HP_ABNORMAL_UMBILICUS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_UMBILICUS_MORPHOLOGY	LRP2	PHGDH	CHRNG	ARSB	FANCB	VPS37D	POU1F1	GLRB	BMP1	NKX2-5	HES7	ABCC8	UBE2T	TSHB	COL3A1	GPC4	ZFP57	IDS	C1R	HIVEP2	LTBP4	NOTCH1	MEGF8	IPO8	FGD1	RTL1	FRAS1	SETD2	FGFR2	ATAD1	GNPTAB	PLOD1	METTL27	DVL3	IFT140	FZD2	ELN	TSHR	PLAGL1	TBX1	ACTG2	SLC26A2	ALDH18A1	ARID1B	FBXW11	C1S	GLI3	ATP6V0A2	WNT5A	GP1BB	TRIP11	PAX8	H4C3	H19	GTF2IRD1	LMOD1	OCLN	SLC25A22	TENT5A	FBLN5	MED12	RREB1	KAT6A	MBTPS2	BCL11B	SCN2A	SKI	GLIS3	GNAO1	DGCR6	GZF1	KRT1	HYMAI	GTF2H5	HSPG2	FREM2	PALB2	TP63	SLC5A5	FLNA	CREBBP	RAB23	IGF2	BCL7B	TPO	SEC31A	SLC2A10	MLXIPL	SMAD3	BRCA2	TMEM70	DVL1	NOTCH3	KMT2C	TRIM8	PRDM5	ELMO2	SPECC1L	NCF1	MASP1	IYD	MPLKIP	ISL1	IDUA	RIN2	PIGQ	KNSTRN	EOGT	SH3PXD2B	EN1	NALCN	COLEC11	PIK3CD	DLK1	ARX	NEU1	GATA6	FKBP6	AGA	DMXL2	RAD51C	RAC1	EED	RFC2	DUOXA2	LBR	FANCD2	SLC35D1	GTF2E2	TBL2	APC2	PORCN	LHX3	ADAMTS2	CDH11	MAD2L2	GTF2I	CHD7	PRKG2	GLRA1	FANCA	FANCI	TUBB	NECTIN1	PROP1	TFE3	SGSH	CCBE1	ATP7A	COL1A1	MEG3	CLIP2	BRIP1	AEBP1	TRRAP	SUZ12	GPC6	MESP2	RFWD3	XRCC2	MID1	SIK1	ROR2	LMNA	STX1A	CAVIN1	FBN1	AUTS2	MAN2B1	FTO	KCNA1	DNAJC30	ERCC3	FKBP14	TWIST2	ESS2	DGCR2	SCN1B	DLL3	ATRX	MSX1	COL5A2	KIF7	NIPBL	RIPK4	LHX4	SNIP1	HIRA	SLC25A24	BSCL2	PPP2CA	IRF6	GRM7	CHAMP1	ABCC9	COLEC10	TG	SLC6A5	SETBP1	MYLK	GMNN	SALL1	CDCA7	BRCA1	PACS1	TARS1	NSD1	DNMT3A	ARVCF	DGCR8	FOCAD	TOR1A	ZBTB24	SLC35C1	TGDS	KCNJ8	GPC3	ZBTB7A	DNMT3B	FANCF	HDAC4	CDKL5	ZMPSTE24	CARS1	BUD23	NFIX	ANTXR1	B3GLCT	HELLS	COMT	POLR3GL	BAZ1B	NOTCH2	OCRL	ERCC2	RNF113A	SEC24C	TRAF7	GJA1	AGPAT2	GRIP1	HESX1	CHST14	FANCM	DUOX2	CASK	SLX4	BCOR	EIF4H	SHANK3	NAA10	KCNJ11	GTF2IRD2	LIMK1	ERCC4	FANCL	SOX6	MAPRE2	MED13L	COL2A1	NXN	GRIN1	LFNG	TMEM270	SMARCA2	KCNH1	SRCAP	RNF2	EZH2	PIGP	PRR12	GUSB	MTOR	NEUROD2	GPHN	MYH11	JMJD1C	PTCH1	RIPPLY2	NSDHL	FANCE	MYH3	FANCG	TGFBR2	PIGS	EFNB1	EHMT1	COL5A1	KDM3B	ADNP	RAD51	CLDN19	UFD1	FANCC	PNKP	IKBKG
HP_BARREL_SHAPED_CHEST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BARREL_SHAPED_CHEST	MYH3	ACAN	TRPV4	RAB33B	COL2A1	ACP5	TRAPPC2	P3H1	LBR	TRIP11	EIF2AK3	CHST3	RMRP	TNFRSF11B	KDELR2	LRP5	CILK1	VPS33A	FUCA1	DYM	WNT7A	HRAS
HP_ASYMMETRY_OF_THE_THORAX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASYMMETRY_OF_THE_THORAX	MESD	PTEN	HERC1	AKT1	H19	ANTXR1	RMRP	IGF2	KCNQ1OT1	AMER1	CDC42BPB
HP_PRENATAL_MOVEMENT_ABNORMALITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRENATAL_MOVEMENT_ABNORMALITY	BRD4	KLHL40	MAP3K20	CPSF3	CHRND	MTMR14	SNRPN	ASCL1	SCN8A	EEF1A2	DEAF1	DNM1	DOK7	MKRN3	ACTA1	MEGF10	MYOD1	GABRA5	LMNA	CACNA2D1	PLPBP	NECAP1	CDK19	ADGRG6	MYMK	ALDH7A1	MAP3K7	CACNA1B	GPKOW	FBXO28	DNM2	COL13A1	FGF13	TRIP4	CTBP1	LMOD3	MTM1	RET	ATP1A3	CNTNAP1	DPYSL5	SYNGAP1	SYNE1	TRPV4	NSD2	MAGEL2	AP3B2	HDAC8	PREPL	CNKSR2	FGFRL1	DHDDS	NEB	WDR62	H4C3	H19	NTRK2	ZMPSTE24	COL6A1	PEX19	DNA2	CAMKMT	FGF12	CPLX1	ATP1A2	SMC1A	SLC5A7	ACTL6B	UBA1	HSPG2	MUSK	SLC3A1	BICD2	DPAGT1	TUBA1A	PLOD1	KBTBD13	TRAIP	GFPT1	IGF2	CACNA1A	VAMP1	VPS13B	SLC38A3	COL6A2	CHRNG	GLE1	MYH3	LETM1	YWHAG	NUP88	GMPPB	DHCR7	IQSEC2	ERGIC1	ZC4H2	MYL2	PPP3CA	SZT2	FLII	NALCN	RYR1	KIF5C	TPM2	CHRNE	DPH5	TMCO1	CHUK	PEX3	KLHL41	PAX7	CNTN1	EBF3	GABRB2	PIGG	RAI1	MPZ	COL6A3	MYPN	NEK9	PARS2	HERC2	HACD1	SLC25A26	PHGDH	ZBTB42	BIN1	NELFA	SCYL2	KCNA2	MYO9A	ERBB3	GABRA2	NDN	OCA2	EXOSC9	CRPPA	NPAP1	IGHMBP2	RAD21	SOX10	SNAP25	FKBP14	MYCN	MYL1	CDC42BPB	SNORD115-1	PPM1B	COL12A1	SLC16A2	GLRB	NAA20	RIPK4	PWRN1	DMPK	SLC18A3	TSFM	ODC1	GNB2	SCN3A	SNORD116-1	PWAR1	CLPB	DALRD3	PRUNE1	RAPSN	SLC25A1	CHAT	ALG9	IL2RB	TOR1A	SMC3	ALG14	DNM1L	SMN1	ERCC5	PTRH2	WWOX	SELENON	AARS1	USP7	NEXMIF	TRAK1	CCDC174	NUP188	GABRG2	HCN1	KCNB1	CLTC	LGI4	PHOX2B	PSAT1	TPM3	GGPS1	NSD1	MYF6	AGRN	GRIN2D	GBE1	POLR2A	ALG8	NIPBL	B3GLCT	NAA10	GBA1	FGFR3	ATP6V1A	SLC13A5	NFASC	COL25A1	SYT2	TBCK	ITGA7	CHRNA1	GABBR2	ARV1	CYFIP2	MYH7	CELF2	UBA5	GLDN	NUS1	PIGS	SLC1A2	ASCC1	FZR1	SYNJ1	SHQ1	SLC25A19	UNC45B	COX15	FXR1
HP_ABNORMALITY_OF_THE_AMNIOTIC_FLUID	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_AMNIOTIC_FLUID	PIGN	CHRM3	MYLK	KAT6B	SEMA3E	ODC1	FANCB	TMCO1	MTMR14	GLE1	HS2ST1	ASCL1	UBE2T	RPGRIP1	GPC4	LBR	RIT1	OTX2	ZNF699	HYLS1	B9D2	ADGRG6	IPO8	ALDH7A1	PIGY	KCNJ6	ACTA1	RTL1	EXTL3	AVPR2	LMOD3	MTM1	RET	IFIH1	NPC2	FLVCR2	DZIP1L	MAGED2	CLCNKA	ACTG2	SLC26A2	COQ7	DHCR7	SEC24D	TCTN3	PBX1	GLI3	GP1BB	TPM2	ZIC3	TAPT1	LMOD1	ITGA6	ZMPSTE24	RREB1	KCNJ1	SPOP	CFL2	FGFR3	DIS3L2	TCTN1	FGF20	HSPG2	PRDM13	MUSK	PALB2	TP63	TUBA1A	GFRA1	ALG12	KBTBD13	CREBBP	NRCAM	IGF2	LZTR1	BRCA2	HSD17B4	TXNDC15	TRIP13	PIEZO1	WNT4	HSPA9	CEP290	ERGIC1	NEK8	TRAPPC12	TBX1	NUP88	MKS1	MYL2	GATA6	LONP1	PTH1R	NPHP3	SLC12A1	VPS33B	RAD51C	RYR1	FLNB	ASXL3	HRAS	DPH5	SKIC3	FANCF	KLHL41	MAD2L2	ATN1	CHD7	EBF3	FARSA	MDFIC	FANCA	MYPN	NEK9	SETD1A	PRRX1	LTBP3	ATP6V1B2	WDR81	SLC27A4	HACD1	BRIP1	FIG4	ZBTB42	SCYL2	ERBB3	RFWD3	DPF2	SLC26A3	ALB	EXT2	B3GALT6	CLCNKB	ENPP1	PPP1CB	DPM2	SOX9	PCGF2	MYCN	MYL1	BUB3	SNORD115-1	MSX1	FOXF1	SLC16A2	COL2A1	IKZF1	MYH11	ADAMTS3	UROD	PWRN1	GNB2	TMEM231	NR1H4	REN	PWAR1	PAFAH1B1	PDX1	CALCRL	MAFB	CRB2	CLPB	SPRED2	FOXE1	MAP2K2	RHCE	PLEC	BRCA1	FARSB	HIC1	ATP6V0A1	KIDINS220	CBL	TTC7A	TMEM67	MADD	IBA57	SLC25A1	CHAT	DONSON	KIAA0586	GPC3	MTHFR	WNT3	DYNC2I2	UQCC2	ADARB1	B3GLCT	WNT9B	SELENON	CDK13	VAC14	COMT	POR	ASXL1	HBA2	BIN1	SLC9A3	MEG3	PKHD1	KRAS	PAX2	SLC35A2	DOK7	PHOX2B	PSAT1	EP300	LHX1	FUT8	SEC24C	ATAD3A	NEB	MOGS	STRADA	COQ2	MAGEL2	BSND	TPM3	MYH3	LARS2	NAA10	ALX4	ERCC4	COL25A1	DYRK1A	ITGA7	PDSS2	PIGO	LAMB2	PLVAP	HYMAI	NDUFA6	DNM2	TSEN54	TRIP11	ACE	CNTNAP1	DYNC2I1	SYT2	GRM7	SNRPB	ASCC1	SLC35D1	CILK1	ALG8	KDM3B	AMER1	BNC2	RAF1	DALRD3	PNPO	BUB1	FANCC	RPGRIP1L	FXR1	KLHL40	ADAT3	RHD	MAP3K20	ABCC6	IARS1	RPL10	COG5	MKRN3	MYOD1	LMNA	HMGA2	PLPBP	TCTN2	TMEM107	COL13A1	TRIP4	AMMECR1	PIGV	SMG9	CLCN7	SATB1	PI4KA	INPPL1	GREB1L	AQP2	NDUFB7	AGT	PHACTR1	H19	CPT2	BUB1B	FBLN5	SHOC2	PMM2	MBTPS2	COL11A2	EBP	UROS	ATP1A2	SLC5A7	SOD1	RPL11	PIGQ	DSP	CHRND	ABCB11	PAICS	ALPL	TMEM70	TRAIP	VAMP1	SPINT2	HNF1B	ZC4H2	TBCD	TRPV6	DLK1	TMEM237	NALCN	TMEM216	CD96	FANCD2	EFEMP2	DDX6	ERF	RRAS2	WDR73	SOS1	CHRNG	CNTN1	KIF7	FANCI	BMPER	NECTIN1	B9D1	SLC25A12	DOCK6	HERC2	ALDH1A2	SLC25A26	PHGDH	CEP55	MYO9A	AGTR1	XRCC2	ITGB4	LIFR	EXOSC9	CSPP1	NPAP1	TBC1D24	ESCO2	JUP	FKBP14	CDC42BPB	PLAGL1	CEP57	SNRPN	C1QBP	OSGEP	DMPK	SLC18A3	DTYMK	SCN8A	HIRA	IRF6	PLAG1	SNORD116-1	RHAG	ANO1	MRPS22	NRAS	ARVCF	TPI1	PUF60	TOR1A	ALG14	KIF14	SLC6A5	GATA1	SNAP25	PGAP2	CERT1	ITGA8	GMPPB	SLC25A24	TWIST1	SOX17	FBN1	GNPTAB	CDKN1C	MYL9	DYNC2LI1	COX14	HADHA	UBE2A	FANCM	MYF6	SLX4	AGRN	VANGL2	SLC25A46	HBA1	GBE1	TTC26	PIGW	PIGA	ALG1	FANCL	DEF6	PGAP3	DHPS	TBCK	ALG9	WDR35	YWHAE	RNF2	MAMLD1	CHRNA1	ABCB4	SIN3A	ATP8B1	JMJD1C	BRAF	OTUD5	FANCE	RNU4ATAC	GLDN	FANCG	RAPSN	CLTCL1	CC2D2A	HOXD13	HADHB	RAD51	CA2	GBA1	UFD1	RSPO2	INVS	PIGL	TALDO1
HP_POLYHYDRAMNIOS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYHYDRAMNIOS	PIGN	KLHL40	ADAT3	MAP3K20	KAT6B	ABCC6	SEMA3E	ODC1	RPL10	TMCO1	MTMR14	ASCL1	GPC4	LBR	RIT1	OTX2	MKRN3	ZNF699	MYOD1	HYLS1	LMNA	ADGRG6	IPO8	KCNJ6	ACTA1	MEG3	RTL1	DNM2	EXTL3	AVPR2	COL13A1	LMOD3	MTM1	AMMECR1	RET	FOXE1	CNTNAP1	NPC2	FLVCR2	SMG9	CLCN7	MAGED2	TBX1	CLCNKA	ACTG2	SLC26A2	DHCR7	PI4KA	INPPL1	AQP2	GP1BB	NEB	PHACTR1	TPM2	LMOD1	TRIP11	ZIC3	TAPT1	BSND	ITGA6	BUB1B	ZMPSTE24	RREB1	SHOC2	KCNJ1	SPOP	COL11A2	EBP	CFL2	FGFR3	ATP1A2	SLC5A7	KRAS	DIS3L2	HSPG2	PRDM13	MUSK	SOD1	NPHP3	RPL11	TP63	TUBA1A	PIGQ	RHD	CHRND	PAICS	ALPL	ALG12	KBTBD13	CREBBP	NRCAM	TRAIP	FANCB	LZTR1	HSD17B4	TRIP13	VAMP1	PIEZO1	SPINT2	MYH3	NUP88	TRAPPC12	ZC4H2	TBCD	TRPV6	MYL2	KIDINS220	DLK1	LONP1	PTH1R	NALCN	SLC12A1	RYR1	FLNB	ASXL3	CD96	HRAS	SLC35D1	DPH5	CLCNKB	COL2A1	SKIC3	ERF	PRRX1	RRAS2	FANCF	KLHL41	SOS1	CHRNG	CHD7	CNTN1	MDFIC	KIF7	MYPN	NECTIN1	GLE1	SLC25A12	LTBP3	ATP6V1B2	HERC2	WDR81	SLC27A4	HACD1	ALDH1A2	SLC25A26	FIG4	TTC7A	PHGDH	ZBTB42	BIN1	SCYL2	MYO9A	ERBB3	DPF2	SLC26A3	EXT2	B3GALT6	ENPP1	ITGB4	PPP1CB	NPAP1	DPM2	SOX9	TBC1D24	ESCO2	PCGF2	FKBP14	MYCN	MYL1	BUB3	CDC42BPB	SNORD115-1	MSX1	FOXF1	CEP57	SLC16A2	IKZF1	ADAMTS3	PWRN1	DMPK	STRADA	SLC18A3	DTYMK	SCN8A	HIRA	IRF6	SNORD116-1	PWAR1	PAFAH1B1	CALCRL	MYLK	ANO1	MAFB	CRB2	CLPB	SPRED2	MAP2K2	PLEC	HIC1	ATP6V0A1	CBL	MADD	IBA57	SLC25A1	NRAS	ARVCF	CHAT	TOR1A	KIAA0586	ALG14	GPC3	PIGY	MTHFR	WNT3	DYNC2I2	ADARB1	B3GLCT	SNAP25	SELENON	CDK13	VAC14	COMT	ASXL1	HBA2	TWIST1	SOX17	SLC9A3	DOK7	PHOX2B	PSAT1	EP300	DYNC2LI1	FUT8	SEC24C	ATAD3A	TPM3	MOGS	MYF6	AGRN	VANGL2	MAGEL2	SLC25A46	HBA1	GBE1	TTC26	PIGA	DYRK1A	ALG9	ITGA7	WDR35	YWHAE	PLVAP	MAMLD1	CHRNA1	SIN3A	MYH11	TSEN54	JMJD1C	BRAF	OTUD5	GLDN	RAPSN	DYNC2I1	SYT2	GRM7	SNRPB	ASCC1	CILK1	KDM3B	HOXD13	AMER1	RAF1	GBA1	BUB1	UFD1	RSPO2
HP_OLIGOHYDRAMNIOS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OLIGOHYDRAMNIOS	CHRM3	RHD	MYLK	FANCB	IARS1	HS2ST1	ASCL1	UBE2T	RPGRIP1	COG5	MKRN3	TXNDC15	HMGA2	B9D2	TCTN2	PIGY	TMEM107	IGF2	TRIP4	PIGV	RET	IFIH1	DZIP1L	SATB1	COQ7	INPPL1	SEC24D	TCTN3	GREB1L	PBX1	GLI3	NDUFB7	AGT	H19	CPT2	FBLN5	MBTPS2	TCTN1	FGF20	PALB2	NPHP3	DSP	TMEM70	BRCA2	HNF1B	WNT4	MYH3	HSPA9	CEP290	ERGIC1	NEK8	MKS1	GATA6	TMEM237	DYRK1A	NALCN	VPS33B	TMEM216	RAD51C	FANCD2	EFEMP2	DDX6	WDR73	MAD2L2	ATN1	EBF3	FARSA	FANCA	FANCI	BMPER	NEK9	SETD1A	B9D1	DOCK6	HERC2	BRIP1	ACTG2	CEP55	RFWD3	AGTR1	XRCC2	DPF2	ALB	FXR1	LIFR	EXOSC9	CSPP1	NPAP1	JUP	CDC42BPB	SNORD115-1	PLAGL1	MYH11	SNRPN	C1QBP	OSGEP	PWRN1	GNB2	TMEM231	PLAG1	SNORD116-1	REN	PWAR1	RHAG	PDX1	RHCE	BRCA1	FARSB	TMEM67	TPI1	PUF60	DONSON	KIF14	FANCF	UQCC2	WNT9B	PGAP2	CERT1	ITGA8	GMPPB	SLC25A24	POR	HBA2	BIN1	PKHD1	FBN1	PAX2	GNPTAB	CDKN1C	SLC35A2	PHOX2B	MYL9	LHX1	COX14	UBE2A	FANCM	COQ2	SLX4	MAGEL2	HBA1	ALG8	SCYL2	LARS2	B3GALT6	PIGW	NAA10	ALX4	ERCC4	FANCL	DEF6	PGAP3	DHPS	COL25A1	TBCK	ALG9	PDSS2	PIGO	LAMB2	HYMAI	RNF2	NDUFA6	ACE	FANCE	RNU4ATAC	FANCG	ZMPSTE24	CLTCL1	CC2D2A	AMER1	BNC2	GFRA1	DALRD3	RAD51	CA2	FANCC	BUB1B	INVS	PIGL	RPGRIP1L	TALDO1
HP_FETAL_POLYURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FETAL_POLYURIA	SLC12A1	KCNJ1	GFRA1	FGF20	BSND	RET	CLCNKB	WNT9B	GREB1L	CLCNKA	MAGED2	ITGA8
HP_WIDELY_SPACED_MAXILLARY_CENTRAL_INCISORS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDELY_SPACED_MAXILLARY_CENTRAL_INCISORS	ALX3	ABCC9	FREM1	CHSY1	RNF2	STAG1	ANKRD11	ATRX	GATAD2B	DNMT3A
HP_MULTIPLE_IMPACTED_TEETH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_IMPACTED_TEETH	SH3BP2	HOXD13	CDH11	FLNA	PTH1R
HP_MACRODONTIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACRODONTIA	VPS51	BRCA1	TBC1D24	GJA1	MBD5	KCNK9	MGAT2	CTCF	CDK10	VPS13B	BRF1	MSX1	COL11A1	ABCC9	NECTIN1	ANKRD11	ATP6V1B2	CACNA1I	KCNMA1	FARS2	IRF6	PURA	DHX37	PQBP1	GRIA3	MAPK8IP3	TP63	SMOC1
HP_PRIMARY_HYPERCORTISOLISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMARY_HYPERCORTISOLISM	PRKAR1A	CDKN2C	PDE11A	CDKN2B	CDKN1B	MEN1	PRKACA	CDKN1A	GNAS
HP_RECURRENT_SKIN_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_SKIN_INFECTIONS	ELANE	FOXP3	PIK3CG	IL2RG	SREBF1	TFRC	GJB2	NFKB1	BLNK	ADAM17	UROD	IL17F	STAT1	NCF1	EPHB4	LAMB3	CLPB	ADA	RFX5	LYST	MVK	TCF3	CARMIL2	RFXAP	DOCK2	BTK	IL7	CFI	RFXANK	IL10RA	HYOU1	IL7R	ITGB2	KRT5	TP53	CYBB	GFI1	COL7A1	IKBKB	BRAF	PRDM12	IL6ST	ITGA6	NR3C1	FOXC2	CIB1	AIRE	GATA1	MBTPS2	TMC8	IL17RA	TCIRG1	UROS	CD247	MRTFA	CD79B	MYD88	SP110	EGFR	TLR8	SRP54	AP3B1	CD3E	LRRC8A	NFE2L2	CARD9	ZAP70	DSE	LCP2	DOCK8	GJB6	ZNF341	BLOC1S6	POLR3A	IGHM	KRT1	TMC6	XIAP	CHST14	WDR1	ATRX	UBE2A	MMP1	LAMC2	USP8	IL17RC	PGM3	FERMT1	SASH3	DCLRE1C	PKP1	SHANK3	SYK	PIK3R1	KNSTRN	STAT3	PIK3CD	NCF2	PSEN1	CLEC7A	GINS1	FERMT3	CIITA	CTSC	TOM1	PSENEN	CD40LG	OTULIN	IL2RA	FOXP1	LAMA3	CYBA	MBL2	BTD	CD3G	IGLL1	CDH23	CD3D	USP48	DSG1	KRT14	EPG5	GJC2	ITGB4	CD79A	IL6R	JAK3
HP_REDUNDANT_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUNDANT_SKIN	ELN	DNAJC30	TWIST2	VPS37D	FGF20	EZH2	COL3A1	B4GALT1	ATP6V1E1	GGCX	LTBP4	FIG4	NDUFB11	NSD1	GPX4	ALDH18A1	MEG3	PITX2	KRAS	LTBP1	AEBP1	FBLN5	FGFR2	RIN2	BRAF	MRPS22	METTL27	ATP7A	ALG12	ATP6V1A	FOXC1	DLK1	ATP6V0A2	GTF2IRD1	SLC6A8	EXT1	PYCR1	BUD23	EED	PEX1	ANTXR1	WDR37	CDK13	FGFR3	SLC25A24	MAP2K2	VAC14	DSE	BAZ1B	BCL7B	SH3PXD2B	MLXIPL	RPS6KA3	TRPS1	NCF1	SUZ12	EFEMP2	EIF4H	NAA10	GTF2IRD2	LIMK1	NDUFB10	FKBP6	RTL1	KIAA0586	NPR2	CD96	MRPS16	HRAS	RFC2	HPGD	TBL2	GATA1	TBX15	CSPP1	TMEM270	ADAMTS2	GTF2I	OTUD5	MAP2K1	SLC2A10	CHST14	WDR81	PTDSS1	CLIP2	GORAB	CEP55	STX1A	H1-4
HP_ROTARY_NYSTAGMUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ROTARY_NYSTAGMUS	TMEM106B	CLN3	ELOVL1	MPC1	ALX4	LYST	TELO2	PPP2R5D	MKS1	NPHP4	PPP1R21	GFER	TMEM216	SLC16A2	PNPO	GJC2	KCNN2	PLP1	ERLIN2	ACBD5
HP_BELL_SHAPED_THORAX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BELL_SHAPED_THORAX	CSPP1	DDR2	UBE3B	INPPL1	CSGALNACT1	COL11A1	COL2A1	DDRGK1	ABCD4	IFT172	PAX7	BMPER	CANT1	TRIP11	FGFR2	TBX15	KDELR2	COL11A2	DYNC2I2	SNRPB	PEX1	CSF1R	ANTXR1	SLC26A2	FLNB	CEP120	KIAA0586	HHAT	XYLT1	COL1A2	PAM16	COL1A1
HP_SELECTIVE_TOOTH_AGENESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SELECTIVE_TOOTH_AGENESIS	NEK1	RIPK4	PAX9	BLM	SUMO1	CDC42BPB	TP63	CDH3	DLX3	ARHGAP29	MSX1	NECTIN1	WNT10B	LRP6	BCOR	GREM2	TCF12	DLX4	NAA10	EIF4A3	CDH1	AXIN2	IRF6	FGFR1	EDA	FGF3	GLI2	DDX59	BMP4	CEP152	ERCC3	EDARADD	CDH11	ATR	GJA1	ATP6V1B2	PDGFRA	WNT10A	B3GLCT	TGFA	FLNA	DLG1
HP_ALOPECIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALOPECIA	FOXP3	EOGT	CD28	MGP	PNPLA6	ODC1	KRT83	SLC39A4	NFKB1	CTLA4	TGM1	COL3A1	ACVR1	LSS	LMNA	MBTPS2	EDNRA	ALOX12B	IPO8	MCCC2	ZMPSTE24	RNU4ATAC	TERT	IL7R	RMRP	RBM28	KRAS	ECM1	DVL3	TNFRSF1B	DLL4	FZD2	COL17A1	COL18A1	FOXN1	H6PD	PI4KA	DCLRE1C	RAG1	HR	DSG4	CASR	WNT5A	FAM111B	NHP2	GJB2	GJB6	HLA-DRB1	RECQL4	PERP	DOCK6	NOP10	PARN	CHD7	MMP1	HFE	EBP	TP63	UQCRFS1	UROS	PIK3R1	TINF2	FTL	KRT5	TYMS	DCAF17	GTF2H5	IL2RG	RTEL1	TRPV3	ERCC3	TGM3	DSP	MTX2	HLA-DQB1	SOX18	KRT81	ALMS1	NOTCH1	KLHL24	LIPH	SNRPE	KRT74	PEX7	GJA1	NFKB2	MPLKIP	RIN2	CYP11B1	EPS8L3	ARHGAP31	FLI1	SPP1	USB1	XPC	CTC1	ABHD5	GTF2E2	AHSG	KDM5C	PORCN	PKP1	PADI3	APCDD1	UROD	HLA-DRA	BAP1	POLR3A	NECTIN1	EDARADD	HLCS	NPM1	DKC1	AP1B1	DOLK	KRT14	SLC27A4	FGFR1	DMXL2	TERC	ROR2	ALOXE3	LPAR6	GNA11	KRT6B	VDR	KRT86	ITGB4	CSTB	JUP	DVL1	EXOSC2	SREBF1	IKBKG	TTC7A	STAT4	TLR7	ATP7A	BCS1L	LAMB3	RIPK4	ADA	GJB3	BTK	PRKCD	SLC29A3	WRAP53	PDE8B	DDB2	PLEC	OFD1	AEBP1	KRT6A	EDAR	MAP2K2	XPA	ERCC2	PNPLA1	PRKAR1A	ITGB6	ABCD1	SLC30A2	PDE11A	WNT10A	GJB4	TARS1	SMARCA2	RAG2	HTRA1	KRT85	FLNA	RBPJ	NIPAL4	LIG4	ATR	AIRE	GATA1	KRT17	CARS1	PTPN22	KRT16	ANTXR1	RPL21	BLM	BANF1	BMP2	ZNF341	HLA-DQA1	SASH1	NRAS	ERCC4	RNF113A	CWC27	IRAK1	MOGS	PRKACA	CLDN1	LAMC2	UBR1	HRURF	KANSL1	WRN	KDSR	ALX4	LAMA3	HRAS	COL7A1	ABCA12	RHOA	BTD	NXN	NECTIN4	SLITRK1	CERS3	ARMC5	IL2RA	ZPR1	NSDHL	HLA-B	STUB1	ANAPC1	LORICRIN	CDSN	P4HA2	GNAS	HEPHL1	BTNL2	ERCC5
HP_ABNORMALITY_OF_THE_NAIL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_NAIL	FOXP3	PIGN	KRT14	KRT1	EOGT	CTSK	ODC1	VPS37D	IFT122	LRP4	IL11RA	GJB2	ADAM17	NHP2	ZBTB20	TGM1	LMNA	TP63	GPC4	COL7A1	EDAR	COL11A1	NOTCH1	DSG1	ALOX12B	PIGY	SMARCB1	TERT	NDUFB11	FBXO28	KRAS	SMARCE1	SETD2	DPYD	FGFR2	FZD2	EVC	TSC2	COL17A1	COL11A2	ACD	ZMPSTE24	DSG4	GDF5	CASR	TCTN3	GLI3	ATP6V0A2	FAM111B	SMARCA4	GJB6	KCNN3	NOP10	ZIC3	LIG4	ITGA6	MBTPS2	RECQL4	FTL	DOCK6	GJA1	PARN	SLC39A4	SLURP1	ALG3	SCN2A	RTEL1	BMP2	STAMBP	TINF2	TAF1	TSPAN7	KRT5	TYMS	ARID1B	DPM1	FLNA	RSPO4	TWIST2	POLR3A	FERMT1	MLXIPL	H3-3B	MTX2	DVL1	FGF9	RPS6KA3	NOG	DPH1	FGFR3	TBX3	WNK1	KRT16	DSP	MAP3K20	NFKB2	TRAF3IP2	NECTIN1	BMPR1B	FGF10	LAMA3	PIGQ	PPP2R5D	PIGF	DST	EDARADD	FKBP6	DMXL2	FOXN1	KIF11	HRAS	PQBP1	CTC1	GTF2E2	IFT43	SULT2B1	RETREG1	CTSC	APC2	GJC2	ARID1A	ABCA1	POFUT1	NTRK1	DLX3	NPM1	AP1B1	PIGO	RUNX2	ATP2A2	IRF6	ATP6V1B2	PLCD1	CLIP2	EVC2	FIG4	USB1	SPEN	TRRAP	PEX6	FLT4	SMARCD1	DPF2	SIK1	SDR9C7	LIPN	ROR2	ALOXE3	GNA11	SATB2	FTO	SRY	ABCA12	PHYH	SOX9	LETM1	CPLX1	SREBF1	IKBKG	EBP	PIGB	TFAP2A	MAF	KRT17	EZH2	STXBP1	POGLUT1	PERP	GJB3	KCTD1	RIPK4	WRAP53	GRM7	ITGB4	KRT86	NSD2	SOX11	SOX18	ALG12	CWC27	RNF13	MARS1	TCF4	PLEC	PNPLA1	NSD1	MYOF	KRT85	MSX1	WNT5A	MPLKIP	RBPJ	ARHGAP31	KRT9	GPC3	CDKL5	AAGAB	CCDC32	AIRE	BHLHA9	ANTXR1	UMPS	WDR35	PRKACB	BLM	VAC14	BAZ1B	CYB5R3	AFF4	PRKACA	ELN	CCDC22	AKT1	FLNB	ACAN	SASH1	NOTCH2	PRKAR1A	STAT3	CASK	HLA-B	IHH	INSR	EIF4H	PKP1	SHANK3	CKAP2L	CD28	IL17RA	HUWE1	ZSWIM6	MCTP2	SIN3B	SET	NXN	RLIM	CERS3	ZNF462	HYMAI	IGF2	KCNH1	PIGP	PRR12	KIF1A	SIN3A	LAMB3	SMARCAD1	KANK2	PTDSS1	LORICRIN	GPR101	SLC35D1	PEPD	RAF1	ASPRV1	ERCC2	TERC	RNU4ATAC	DCLRE1B	EIF5A	PPM1D	CYP4F22	ITGA3	WNT7A	TSC1	KRT83	SF3B1	ACTL6B	CTLA4	SHOC2	CENPT	B3GALT6	PEX7	HMGA2	POP1	MEG3	SCN9A	SLCO2A1	CSTA	CTBP1	PIGV	ECE1	METTL27	CDH1	HOXC13	DVL3	TNFRSF1B	DLL4	DSC3	TREX1	PI4KA	RSPO1	CEBPE	BMP4	COX7B	HPGD	CLEC7A	FGFRL1	AIP	TAT	STK11	EFNB1	HCCS	TBX4	GTF2IRD1	EDA	SLC25A22	CPT2	IL36RN	RAB7A	MMP1	KDM1A	SMARCA2	POC1A	GNAO1	IFNG	FOXC2	TRPS1	GLI1	CAST	GTF2H5	VEGFC	MAP2K2	TRPV3	AP1S3	PPP1CB	KRT81	BCL7B	ANGPT1	RBBP8	TRIM8	MACROH2A1	KLHL24	NCF1	HOXA13	STING1	SUZ12	CRKL	FGFR1	EXT2	LMX1B	RERE	SCO2	UBR1	ARX	EED	HGD	WDR19	RFC2	DKC1	RBCK1	TBL2	HFE	GRHL2	UBE2A	PORCN	UROD	NEPRO	WDR73	ATL1	GTF2I	PSENEN	FHL1	IFIH1	BMPER	IL17F	PRKD1	SIAH1	SMARCC2	ZMYM2	RAB3GAP2	WNT10A	BICRA	MAPK1	GSN	HHAT	ENG	ADAMTSL2	STX1A	KRT6B	KCNA1	DNAJC30	TBC1D24	CSTB	ERCC3	JUP	NSUN2	TTC7A	INPPL1	SCN1B	SETBP1	PLAGL1	BCR	NLRP1	TELO2	PLAG1	KRT6A	BRAF	CAMK2G	TMEM222	SOX4	ACVRL1	DLK1	GJB4	CYB5A	TARS1	KRT74	ANAPC1	WASHC5	CD151	IFT52	PEX1	FOCAD	PTEN	NIPAL4	ORC1	ATR	KIF15	CARS1	BUD23	TRAF6	DNAJC21	SOST	EGFR	PGAP2	KDF1	SLC25A24	SHOX	TWIST1	BANF1	RAB3GAP1	ARID2	CDSN	CDKN1C	FRAS1	DYNC2LI1	RNF113A	CAMK2B	LAMC2	PITX1	CARD14	FZD6	PDE4D	PIGW	KDSR	PIGA	PLOD3	GTF2IRD2	LIMK1	DHX37	PGAP3	ACTG2	COL14A1	SMARCD2	RTL1	NPR2	STIM1	GRIN1	NECTIN4	LPAR6	TMEM270	WLS	MVK	TET2	NEUROD2	NSDHL	OTUD5	MAP2K1	OFD1	APC	HLA-C	IL17RC	ADNP	HEPHL1	CDIN1	POMP	PNKP	PIGL	RPA1	FUCA1
HP_CONCAVE_NAIL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONCAVE_NAIL	TRPS1	HRAS	LMX1B	CARS1	ERCC3	ERCC2	TARS1	RNF113A	KRT1	MSX1	GTF2H5	MPLKIP	HOXC13	EDA	GTF2E2	PLCD1	RLIM
HP_ABNORMALITY_OF_THE_LARYNX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_LARYNX	PPM1D	NEK1	MATR3	KAT6B	SEMA3E	CTSK	RPL10	HAAO	ARSL	LRP12	LBR	MYMX	EPHB4	LTBP4	ZNF699	HYLS1	FLNA	TBK1	UNC13A	ATXN2	FUS	IDH1	MEG3	DYNC2I1	FRAS1	EXTL3	PPARGC1A	PRPH	FOXE1	WDR35	TBX1	DHCR7	RSPO1	PLG	TCTN3	MSH2	MSH6	GLI3	GP1BB	LONP1	TBX3	TONSL	SLC26A2	ATP6V1E1	AFF4	RREB1	TREM2	AHDC1	IFT80	GABRG2	RAI1	HNRNPR	GLE1	HSPG2	FREM2	HS3ST6	CREBBP	NRCAM	POLR3A	MEIS2	DYNC2H1	SATB2	GRIN2A	H3-3B	ERBB4	MYMK	FANCB	COL12A1	FGFR3	BRF1	GALC	PON2	CFAP410	MGP	FGF10	NLRP1	SERPING1	MKS1	CHCHD10	C2CD3	CASR	SMAD4	ASXL3	DLK1	KAT6A	RTL1	MLH1	WRN	KIF7	ANXA11	DYNC2I2	TP53	GLT8D1	PRRX1	RALGAPA1	SCN4A	LTBP3	SIAH1	PON3	NEFH	KANSL1	TAF15	EFL1	FGFR2	ASAH1	MID1	CHMP2B	MT-CYB	NIN	PTH1R	SPTBN1	PCNT	NOTCH2NLC	SOX4	VAPB	LAMB3	SNIP1	PFN1	DTYMK	CHD7	PRMT7	ANG	HIRA	CAPN15	ANO3	FIG4	EIF4A3	INTU	SETBP1	CACNA1C	GMNN	KRT5	UBE3B	H3-3A	TARDBP	VCP	ARVCF	PUF60	GIPC1	SCARF2	TSPYL1	UBQLN2	ZBTB7A	HDAC4	SYT1	MDM2	WNT3	LRP4	PSAP	CENPE	NFIX	EDN1	ADARB1	KIF22	SRPX2	FLNB	SQSTM1	SF3B4	VPS13B	CDKN2A	PON1	COMT	POR	KRAS	PKDCC	XPNPEP2	OPTN	EP300	DYNC2LI1	SEC24C	CCNF	GRIP1	DCTN1	LAMC2	CHEK2	FERMT1	SOD1	KCNMA1	MAP3K7	CAT	DDRGK1	BTD	ZIC3	DAO	LAMA3	JMJD1C	TAF1	FBXW7	ORC6	SOX9	SMAD2	APC	CILK1	C9orf72	HOXD13	PLP1	HNRNPA1	AMER1	PORCN	KRT14	LMNA	RAF1	EPHA4	UFD1	RSPO2
HP_LARYNGOMALACIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARYNGOMALACIA	CREBBP	NRCAM	POLR3A	PKDCC	PPM1D	MEIS2	SATB2	EP300	H3-3B	KAT6B	SEMA3E	CTSK	SEC24C	RPL10	HAAO	COL12A1	PCNT	SOX4	TBX3	LTBP4	ZNF699	KANSL1	BRF1	DTYMK	GALC	CHD7	PRMT7	HIRA	TBX1	IDH1	KCNMA1	MEG3	HYLS1	SETBP1	CACNA1C	RTL1	GMNN	ASXL3	DLK1	KRT5	KAT6A	UBE3B	H3-3A	FGFR2	TCTN3	GP1BB	ARVCF	WRN	KIF7	JMJD1C	SCARF2	ATP6V1E1	ZBTB7A	AFF4	ORC6	SOX9	HDAC4	SYT1	RREB1	LRP4	RALGAPA1	SMAD2	AHDC1	PSAP	NFIX	SIAH1	APC	ADARB1	HNRNPR	HOXD13	EFL1	VPS13B	KRT14	LMNA	RAF1	HSPG2	COMT	POR	UFD1
HP_LARYNGEAL_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARYNGEAL_STENOSIS	FRAS1	KIF22	SLC26A2	FLNB	EXTL3	MYMK	GRIP1	DDRGK1	LAMA3	SMAD4	LAMC2	FREM2	MYMX	LAMB3	FERMT1
HP_VOCAL_CORD_PARESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VOCAL_CORD_PARESIS	JAG1	SLC5A7	SH3TC2	LONP1	HAAO	PRX	DST	GIPC1	TRPV4	NOTCH2NLC	MATR3	GDAP1	MFN2
HP_VOCAL_CORD_PARALYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VOCAL_CORD_PARALYSIS	SBF2	PMP22	SDHB	POLA1	MYCN	HAAO	CAMK2B	SLC52A3	DST	TMEM43	VHL	NOTCH2NLC	MFN2	ZNF699	GDAP1	TMEM127	TRAPPC12	MDH2	DNMT3A	LONP1	EMD	ATXN3	DCTN1	SETBP1	SYNE2	TRPV4	MATR3	SDHAF2	TRIM2	RET	ELN	SDHD	NF1	SLC5A7	SDHC	SH3TC2	FHL1	FH	PRX	GIPC1	SLC25A11	EPAS1	MLXIPL	LMNA	DKK1	KIF1B	JAG1	MAX	SDHA	SYNE1	DLST
HP_SUBGLOTTIC_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBGLOTTIC_STENOSIS	LTBP3	SMAD2	CENPE	FRAS1	MAP3K7	SF3B4	TBX3	GRIP1	TONSL	EFL1	FREM2	AFF4	SNIP1	FLNA	NIN
HP_ABNORMALITY_OF_THE_VOICE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_VOICE	NLRP3	SDHB	FGF17	MYOT	VPS37D	SH3BP2	HAAO	OPA1	THAP1	DEAF1	HTT	LRP12	ARHGAP29	NEFH	VHL	MFN2	IDS	C1R	ACTA1	SNCA	LTBP4	ACAN	ZNF699	PMP22	RNASEH2C	MT-ND1	TPM2	DNMT3A	ALDH18A1	GNPTAB	MORC2	LEMD3	DGUOK	MAGEL2	TBC1D2B	FAM111A	SEC24D	SH3TC2	ATP6V0A2	GP1BB	SLC26A2	FHL1	FH	FBN1	CWF19L1	CCDC141	MED12	RREB1	SRD5A2	PDGFRA	CAMKMT	MAX	SMC1A	LRRK2	HSPG2	SLC3A1	ZBTB18	TP63	RNASEH2B	BIN1	HS6ST1	GFPT1	ZDHHC9	MLXIPL	GRIN2A	MTX2	DDRGK1	MYH7	LMNB1	COQ2	DST	DUSP6	FIG4	SHQ1	CHAT	TRAPPC12	TBX1	POMT2	RIN2	LAMA3	GMPPA	SRPX2	GNAS	MYL2	LONP1	DCTN1	FKBP6	CDH1	SOD1	FLII	MGME1	TUBB4A	WDR11	CYP27A1	TRIM2	GDAP1	HRAS	MT-ND6	CHRNE	PCNT	PABPN1	GTF2E2	NECTIN1	MT-ATP6	SDHD	MECP2	BMP4	FBXO7	TGFBR2	SCN4A	RAF1	WRN	NDNF	FOXP1	INPP5K	ANOS1	SPRY4	RAI1	CDC73	KRT5	POU1F1	LTBP3	GNAI3	CLIP2	GNRHR	HACD1	KANSL1	LARGE1	SDHA	NDN	P4HB	LMNA	RET	FTO	IL1RAPL1	MYH14	COL6A3	IGHMBP2	RAD21	VPS35	ASAH1	MYCN	SNORD115-1	MSX1	SPTBN1	UBB	CAMTA1	SLC52A3	TFAP2A	PPM1B	KRT17	ADH1C	EZH2	DNAJC6	MAPT	PWRN1	TMEM127	ASPA	NBAS	IQSEC2	GHR	KRT14	IGF1R	MDH2	TGM6	PWAR1	KMT2D	DNAJC13	UPF3B	CHRNA1	SELENON	CNOT2	NR4A2	CRYAB	ALS2	RAPSN	SLC25A1	DGCR8	GRB10	SMS	AOPEP	SLC25A11	REV3L	EPAS1	TSPYL1	NSMF	RYR1	POLG	GPC3	GIGYF2	COLQ	KIF1B	TPK1	SPEG	PANK2	MT-TV	ATP5F1A	LSM11	EIF2AK2	PLXND1	SYNE1	EIF4G1	TRMT10A	MID1	ALDH4A1	COMT	BAZ1B	OCA2	ELN	GNRH1	GNE	POLA1	SLC18A2	GMPPB	SEC24C	CHRNB1	HMBS	GPC4	TPM3	NOTCH2	GGPS1	POMT1	PHF8	PROK2	FEZF1	EIF4H	SIL1	PREPL	MYH3	STAG2	IL17RD	FLNA	SET	IRF6	FGF8	RRM2B	ITGA7	BRAF	TLK2	OCRL	TWNK	SNRPN	SDHC	ATXN3	SPART	THRA	GFAP	GBA1	NONO	B4GALNT1	AFF2	SLC5A7	SYT2	PROKR2	SNRPB	GPR101	DNAJB2	SYNJ1	FTL	GALT	AMER1	PTPN11	SIM1	VARS1	POMGNT1	PNPO	SMARCAL1	DLG1	DLST	PPP3CA	FMR1	BRD4	MAP3K20	BLM	MATR3	ITPA	TMEM43	TSHB	NF1	GRHL3	MKRN3	CHD7	NSD1	MEGF10	CTNND2	MEG3	PLEC	RNU7-1	TTN	XRCC4	EMD	SEMA3A	COL13A1	DCC	MT-TT	KDM6A	SYNE2	METTL27	ECM1	AR	SDHAF2	MT-ND5	TSHR	KMT2B	STX16	HDAC8	ARID1B	TRHR	POLD1	AIP	TONSL	BAG3	PRX	NDUFS8	PODXL	PAX8	GTF2IRD1	EDA	PRKRA	PI4KA	SHOC2	PEX19	DKK1	GLUD2	POC1A	KISS1	GABRG2	DGCR6	GTF2H5	KCTD17	SNCAIP	MAPK1	NFE2L2	VPS13A	ALPL	SBF2	BCL7B	SEC31A	WWOX	NOTCH3	VPS13B	PPP1R21	CEP104	NCF1	VAMP1	TRIP4	SUZ12	LAMA2	PPP1R15B	MPLKIP	MGP	NLRP1	DLX4	FKTN	SERPING1	NEU1	GARS1	ATG7	NALCN	SMAD4	TRPV4	SLC19A2	RFC2	TBL2	MYMX	TRPS1	TRIM37	ATXN2	B3GALNT2	TACR3	GNAL	TTC19	MT-ND4	TAC3	GTF2I	LYRM4	AGA	FLRT3	ERCC4	HERC2	TREX1	PIGN	PQBP1	MYO9A	ADAMTSL2	STX1A	EXOSC9	CIZ1	ATXN8OS	KRT6B	DNAJC30	NPAP1	MYPN	ERCC3	ESS2	SH2B1	MT-ND2	DGCR2	ADGRG1	ATRX	PLCB4	MDM2	RARS1	TBP	ATP1A3	NOTCH2NLC	NIPBL	RNASEH2A	LAMB3	SRCAP	SLC18A3	RILPL1	HIRA	CAPN15	ZFYVE26	BSCL2	SNORD116-1	EIF4A3	KRT6A	SETBP1	COQ9	AP4E1	SPG7	DLK1	HESX1	TARS1	ARVCF	GIPC1	SMC3	ZMPSTE24	ACTB	CARS1	BUD23	EED	KRT16	SNAP25	MT-TK	PYROXD1	TRH	ABAT	ERCC2	SEMA5A	RNF113A	CAMK2B	LAMB2	LIFR	RNF6	LAMC2	DUOX2	FKRP	CADM3	AGRN	STAT5B	DLEC1	TTC26	FGFR1	MT-TW	PRPH	DYNC1I2	GTF2IRD2	LIMK1	IFIH1	RBBP8	SLC2A3	ATP6AP2	HTRA1	TOR1A	MT-TL1	RTL1	SERPINH1	FRRS1L	SAMHD1	ADAR	MT-ND3	KISS1R	ATP5MC3	CRLF1	TMEM270	KCNK9	FUZ	SOX10	ORC4	JMJD1C	FOXP2	TK2	JAG1	UNC45B	UFD1	VPS11
HP_HOARSE_VOICE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HOARSE_VOICE	KRT6B	MYH14	DNAJC30	MAP3K20	ASAH1	VPS37D	MATR3	SPTBN1	KRT17	DEAF1	EZH2	TSHB	MFN2	IDS	C1R	RNASEH2A	LAMB3	LTBP4	NSD1	ACAN	RNASEH2C	IQSEC2	KRT14	MEG3	RNU7-1	GNPTAB	KRT6A	METTL27	ECM1	LEMD3	SDHAF2	AFF2	ELN	KRT5	FBN1	DLK1	ARID1B	TBC1D2B	TRHR	GPC4	AIP	SLC26A2	PAX8	GTF2IRD1	EDA	GPC3	SHOC2	BUD23	EED	KRT16	RAI1	LSM11	SELENON	MID1	MAPK1	NFE2L2	BAZ1B	RNASEH2B	TRH	BCL7B	GNE	MLXIPL	DDRGK1	NCF1	LIFR	TPM3	LAMC2	SUZ12	DUOX2	EIF4H	GDAP1	NLRP1	LAMA3	SERPING1	GTF2IRD2	LIMK1	IFIH1	MYL2	FKBP6	FLNA	FLII	RTL1	TPM2	SLC19A2	ITGA7	HRAS	SAMHD1	RFC2	ADAR	TBL2	TLK2	TMEM270	SDHD	TRPV4	SDHC	SPART	ACTA1	GTF2I	THRA	AGA	CDC73	POU1F1	LTBP3	CLIP2	HACD1	GPR101	TREX1	PIGN	SMS	STX1A	PPP3CA
HP_NASAL_SPEECH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NASAL_SPEECH	NPAP1	MYPN	ESS2	MYOT	DGCR2	SNORD115-1	TBX1	UBB	CAMTA1	TFAP2A	PPM1B	PCNT	LRP12	ARHGAP29	GRHL3	SNRPN	MKRN3	SRCAP	PWRN1	MEGF10	SLC18A3	RILPL1	HIRA	IQSEC2	PLEC	TPM2	SNORD116-1	PWAR1	COL13A1	UPF3B	SPG7	CNOT2	PREPL	ATP6V0A2	GP1BB	SLC25A1	ARVCF	DGCR8	BAG3	CHAT	SMS	SLC18A2	RREB1	PDGFRA	SHOC2	SELENON	MED12	MSX1	CAMKMT	IRF6	SLC5A7	DGCR6	SNAP25	PYROXD1	SLC3A1	COMT	ZBTB18	ZDHHC9	SEC24C	NOTCH3	TP63	CEP104	LIFR	VAMP1	PHF8	MYH3	NECTIN1	CADM3	AGRN	MAGEL2	MGP	GMPPA	DYNC1I2	SRPX2	ATG7	CDH1	SET	NALCN	MGME1	SYT2	MATR3	GRIN2A	PABPN1	CRLF1	MYMX	TWNK	POLG	BMP4	JMJD1C	NONO	HERC2	SNRPB	DLX4	KANSL1	AMER1	PQBP1	UNC45B	MYO9A	TPM3	UFD1	DLG1	IL1RAPL1
HP_WEAK_CRY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WEAK_CRY	GFPT1	IGHMBP2	HACD1	VPS13B	PPP1R21	TPM3	ATRX	GGPS1	LAMB2	OPA1	VAMP1	TRIP4	CRYAB	NIPBL	SNRPN	LAMA2	ACTA1	AGRN	COLQ	SLC18A3	TTC26	CHAT	ASPA	LAMA3	RYR1	COL13A1	KDM6A	KMT2D	COQ9	SYT2	CHRNE	CHRNA1	MAGEL2	RAPSN	FUZ	SLC25A1	MYH7	NDUFS8	LYRM4	PEX19	SLC5A7	TPM2	SNAP25	FKTN	SIM1	VARS1	MYO9A	ASAH1	SELENON	EXOSC9	FTO
HP_HOARSE_CRY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HOARSE_CRY	DLK1	ASAH1	LAMA3	KRT14	EZH2	MEG3	PIGN	TSHB	RTL1	PAX8	LAMC2	DUOX2	LAMB3	KRT5	LTBP4
HP_DYSPHONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSPHONIA	DNAJC30	COL6A3	SDHB	ERCC3	GNAS	VPS37D	ADGRG1	RARS1	SRPX2	THAP1	VHL	LRP12	NEFH	MFN2	SLC18A3	TMEM127	CAPN15	ZFYVE26	GNAL	MDH2	TTN	DNMT3A	ALDH18A1	TGM6	COL13A1	METTL27	AR	DGUOK	RET	KMT2B	STX16	TWNK	DCTN1	CRYAB	ALS2	TARS1	SLC25A1	FH	CHAT	SDHC	SLC25A11	EPAS1	GTF2IRD1	EDA	PRKRA	POLG	PI4KA	KIF1B	ACTB	CARS1	BUD23	TPK1	SPEG	PANK2	MAX	FTL	SLC5A7	SNAP25	NOTCH3	GTF2H5	KCTD17	HSPG2	VPS13A	BAZ1B	BIN1	ELN	SBF2	BCL7B	SEC31A	MLXIPL	ERCC2	RNF113A	HMBS	LMNB1	NCF1	COQ2	VAMP1	FIG4	AGRN	RYR1	EIF4H	MPLKIP	SIL1	PRPH	GTF2IRD2	LIMK1	NEU1	HTRA1	FKBP6	SOD1	MGME1	TUBB4A	RRM2B	CYP27A1	RFC2	GTF2E2	ATP5MC3	TBL2	TMEM270	NF1	KCNK9	FUZ	SDHD	TTC19	GTF2I	GFAP	NONO	INPP5K	B4GALNT1	SYT2	CLIP2	DNAJB2	SDHA	MYO9A	ASAH1	STX1A	DLST	SDHAF2	VPS11	CIZ1
HP_HIGH_PITCHED_VOICE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_PITCHED_VOICE	SEMA5A	MTX2	BLM	MYH7	CHRNB1	ITPA	MDM2	TTN	PCNT	SRCAP	CTNND2	WRN	STAT5B	PPP1R15B	MORC2	NBAS	RIN2	BSCL2	GHR	IGF1R	XRCC4	RBBP8	AR	SERPINH1	SYT2	HSPG2	FAM111A	SELENON	TRIM37	ARID1B	SEC24D	POLD1	GRB10	ORC4	ERCC4	MED12	ZMPSTE24	POC1A	TRMT10A	P4HB	ADAMTSL2	LMNA	SMARCAL1	FMR1
HP_WEAK_VOICE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WEAK_VOICE	ATXN8OS	MAPT	NR4A2	TRIM37	ATXN2	TONSL	SLC52A3	AOPEP	TBP	ADH1C	DNAJC6	PODXL	TK2	GLUD2	FTL	POLG	SYNJ1	DCTN1	GARS1	ATP6AP2	MT-TT	SYT2	SNCAIP	HSPG2	MATR3	GBA1
HP_PREMATURE_BIRTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_BIRTH	BRD4	DCLRE1B	EOGT	IGHMBP2	RAD21	CYP11A1	PTH1R	TGIF1	YARS1	RPL10	GATB	NUP133	COL5A2	SLC16A2	COL3A1	B4GALT1	BCR	LAGE3	NDUFB11	RTL1	ZNF699	STRADA	LMNA	PEX11B	SUFU	NR1H4	RPS19	MEG3	RNU4ATAC	ACTA1	KRAS	TRIP4	BRAF	LMOD3	MTM1	PEX12	KLHL40	FGFR1	CRB2	DLL4	OSGEP	FLVCR2	ALG12	ZIC2	CLCN7	MAGED2	SATB1	CLCNKA	KLHL41	ABCA12	QRSL1	HDAC8	GLI2	DLK1	GLB1	THOC2	COL11A1	TSHR	PBX1	FCSK	DISP1	SKIC2	RBPJ	ARHGAP31	WDR62	PEX3	SMC3	PEX5	BSND	PEX10	ZMPSTE24	DOCK6	GATC	SIX3	ABCB4	NODAL	KCNJ1	SMPD4	SMC1A	FLNB	WARS2	SF3B4	FDXR	ESCO2	MAP2K2	NDP	PEX2	COL1A2	FZD4	ABCB11	FBN1	PAX2	PEX6	TMEM70	TPRKB	NOTCH1	WDR73	TP53RK	PEX19	PEX14	TDGF1	DMPK	HBB	FLI1	CRKL	DHCR7	PEX16	FOXH1	TPM3	ABCA3	NIPBL	NDUFB3	SLC27A4	SARS2	NEB	PEX1	DHPS	HYLS1	SLC12A1	AIMP1	CDON	SERPINE1	HRAS	WDR4	NLRP3	CLCNKB	COL1A1	PEX13	ATP8B1	ADAMTS2	MUSK	GALK1	SHH	SMARCAL1	KIF7	GAS1	MYH7	MED12	MAP2K1	COPB2	PTCH1	RALGAPA1	LRP5	SFTPB	ASCC1	PEX26	SFTPC	COL5A1	FIG4	ALG8	MAPK1	HOXD13	PNPO	VARS1	DLL1	FGF8	SLC26A3	ALB	GBA1	NUP107	STAT2	SLC17A5	CNOT1
HP_BREECH_PRESENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BREECH_PRESENTATION	KBTBD13	KLHL41	NPAP1	COL1A1	IARS2	HACD1	SON	CFL2	SNORD115-1	OPA1	DST	MYH3	MKRN3	LTBP4	DHCR7	PWRN1	ZNF699	MAGEL2	DTYMK	SCYL2	ERGIC1	TPM3	ACTA1	PIGA	MKS1	NEB	SNORD116-1	FGFR3	LMOD3	TPM2	PWAR1	COL25A1	KLHL40	ASXL3	SHPK	SLC26A2	COL1A2	ORC1	MYPN	RNU4ATAC	CHST3	ASH1L	RYR1	HERC2	UQCC2	RMRP	PTPN23	PEX1	CRTAP	KDM3B	VARS1	PRKAG2	POR
HP_MITRAL_VALVE_PROLAPSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MITRAL_VALVE_PROLAPSE	SPRED1	KRAS	DNAJC30	MYPN	FIBP	CBS	PCGF2	DZIP1	VPS37D	LTBP3	COL2A1	SACS	PRDM5	COL5A2	COL3A1	FBN1	NF1	PKD2	ZNF469	TNXB	IPO8	NDUFB11	TPM2	BCOR	EXTL3	ABCC6	AEBP1	FLNA	PLOD1	DSE	METTL27	GANAB	PLD1	ENPP1	ELN	XYLT1	SPRED2	SELENON	SMAD4	COX7B	FMN2	CHST3	ATP6V1E1	HCCS	MMP2	GTF2IRD1	MFAP5	POLG	XYLT2	TAB2	BUD23	SKI	LZTR1	VPS13B	FBN2	MAPK1	HNRNPH2	ALG5	PKD1	BAZ1B	RYR1	CREBBP	BCL7B	NPR3	DNAJB11	SH3PXD2B	MLXIPL	EP300	COL1A1	MYH7	TTN	CHST14	NCF1	VWF	HCN4	SMAD3	EIF4H	BRF1	PRG4	B3GALT6	DCHS1	GTF2IRD2	TGFB2	LIMK1	FKBP6	ANK1	HRAS	RFC2	BRAF	SLC29A3	TBL2	RPL5	TMEM270	TWNK	FMR1	COL1A2	BICC1	CLIC2	RAF1	GTF2I	MMP14	MAP3K7	B3GAT3	MED12	TGFBR2	IFT140	CLIP2	COL5A1	PTPN11	LMNA	ALG9	HEXB	TPM3	SLC6A6	STX1A	TGFBR1
HP_CONGESTIVE_HEART_FAILURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGESTIVE_HEART_FAILURE	RASA1	TBX20	SDHB	GJA1	LMNA	VPS37D	ADCY5	KCNJ5	ACAD9	SDHD	SF3B1	MT-CYB	MT-ND6	BAG3	CITED2	VHL	STAT1	PRKAR1A	FOS	ALDH18A1	LDB3	DNMT3A	LTBP1	DTNA	MT-TK	HFE	FBLN5	GNPTAB	MT-TC	PLOD1	TRIP4	MAX	METTL27	RET	SGCA	XYLT1	CAV3	MT-CO3	NDUFS2	GLA	CASR	ENPP1	FH	PSEN2	NDUFB8	GDF2	SCO1	TNNT2	GTF2IRD1	DMD	COX16	TNNI3	AARS2	SMAD4	SLC19A2	XYLT2	PNPLA2	PRKAG2	VPS33A	ACTC1	CP	COL1A2	EYA4	MT-CO1	ACVRL1	SCN5A	TMEM70	PRDM16	BCL7B	GPR35	MLXIPL	ALMS1	MYH7	TLL1	MYH6	IDS	TTN	NCF1	CLIC2	MYSM1	FLNA	MT-TV	PSMB8	EFEMP2	ALPK3	PPARG	GTPBP3	TNNI3K	MT-ND5	TMEM43	ABCC6	NKX2-5	FKBP6	MECP2	BCHE	HNRNPA2B1	RFC2	RBCK1	TBL2	TRIM37	NF1	TAB2	FBN1	KIF1B	SMARCAL1	WRN	GTF2I	BAG5	LRPPRC	IFIH1	MT-TS2	PHYH	HBB	TUBB	MT-TW	ATP6V1A	SLC2A10	SCO2	MTTP	CEP19	CLIP2	EPHB4	TNNC1	SLC25A26	GAA	CAVIN1	CDH23	CSRP3	SDHA	EPG5	ENG	IL6ST	ADAMTSL2	GATA4	STX1A	GNA11	NDUFAF1	GATAD1	SLC17A5	ELN	TRPM4	MYL3	DNAJC30	GATA6	BMP6	MYPN	HAMP	SPTBN1	MT-TE	CCN2	JUP	DES	NDUFB11	DNAJC19	PTEN	TMEM127	ACTN2	RPS19	MDH2	CAV1	DSP	PSEN1	MT-TL1	MYBPC3	RAF1	CLPB	SGCD	DOHH	SELENON	DOLK	PEX7	CCR6	TPI1	ABCC9	NSMCE2	SDHC	SLC25A11	MT-TF	ELAC2	FGD1	EPAS1	FXN	SURF1	AGGF1	TCF4	TAFAZZIN	NPPA	IRF5	NDUFAF3	HNRNPA1	BUD23	SLC25A3	ATXN7	ATP5F1A	FGFR3	COG7	HBA2	BAZ1B	HJV	VCL	SNAP29	AFF4	BMP2	RAB3GAP2	MT-TQ	VCP	MST1	PLN	HADHA	STRADA	CACNA1S	MYLK2	MT-CO2	HBA1	EIF4H	FLNC	GLB1	HLA-DRB1	GTF2IRD2	LIMK1	TPM1	TTR	MAPRE2	BSCL2	MT-ND1	COL1A1	HADHB	TOM1	TMEM270	SCN4A	SEMA4D	SLC22A5	DSG2	MYD88	TET2	PDE11A	RYR1	TF	PPA2	SCN1B	AGPAT2	DLST	SDHAF2	IKBKG
HP_TETRALOGY_OF_FALLOT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TETRALOGY_OF_FALLOT	PIGN	EOGT	TBX1	PLXND1	MKKS	SEMA3E	FANCB	VPS37D	TGIF1	UBE2T	CASZ1	GDF1	DDX59	SUFU	NKX2-5	GATA5	SMARCB1	WASHC5	TUBG1	CHRM3	GATA4	SPEN	METTL27	PIGL	DLL4	SKI	HSPG2	ARID1B	COX7B	NKX2-6	MYRF	GP1BB	DISP1	SMARCA4	GTF2IRD1	ZEB2	DOCK6	RREB1	NODAL	TMEM94	RBM10	CHD4	FOXC2	DGCR6	CACNA1C	JAG1	WT1	HIBCH	PALB2	RPL11	CITED2	BCL7B	MLXIPL	BRCA2	NOTCH1	MAPKAPK5	SPECC1L	NCF1	NIPA1	PRDM16	LUZP1	ARHGAP31	GATA6	EHMT1	FKBP6	RAD51C	RFC2	NOTCH2	FANCD2	TBL2	GATA1	SKIC3	RPL5	ARID1A	CHUK	TAB2	RRAS2	PDPN	MAD2L2	SHH	GTF2I	CHD7	FANCA	FANCI	KCNAB2	GJA5	PTCH1	DDX11	SMARCC2	CLIP2	BRIP1	SLC37A4	FIG4	FOXF1	BICRA	PQBP1	STRA6	DLL1	RFWD3	FGF8	XRCC2	SMARCD1	ROR2	STX1A	DNAJC30	ESS2	DGCR2	RERE	GABRD	SRCAP	HIRA	BRAF	RAB23	FLT4	SALL4	SLC35A2	PRKCZ	INTU	FGFR1	SOX4	SALL1	ZIC2	RBM8A	GLI2	BRCA1	SKIC2	ZFPM2	ARVCF	DGCR8	RBPJ	ALX1	FANCF	NIPA2	SF3B2	SIX3	PAH	BUD23	RAD21	SF3B4	MMP23B	VAC14	COMT	BAZ1B	ELN	CCDC22	ARID2	CDK8	SEC24C	UBE2A	FANCM	TDGF1	SLX4	UBE4B	FOXH1	EIF4H	GTF2IRD2	LIMK1	ERCC4	FANCL	DPF2	KDR	NXN	CDON	SMARCE1	SOX11	ALX3	TMEM270	NR2F2	JMJD1C	CXCR4	GAS1	FANCE	PUF60	RNU4ATAC	FANCG	RAD51	DACT1	UFD1	FANCC	TMEM260
HP_ABNORMAL_MYOCARDIUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MYOCARDIUM_MORPHOLOGY	MT-ND4	TNNC1	ARSB	LMNA	NDUFA9	VPS37D	TRNT1	ADCY5	ACAD9	ABCC9	OPA1	TREX1	BAG3	LRP12	GPC4	DES	CPT2	FHL2	RNASEH2C	MT-ND1	NDUFB11	SLC25A20	PTPN11	MT-TK	NDUFS7	HFE	GNPTAB	ALG1	IFIH1	BRCC3	ACTN2	TNNI3	SLC25A4	NAGLU	NDUFA13	AGK	PEX3	FHL1	LIMS2	COX15	LETM1	TAPT1	HADHA	NDUFA2	TMEM126A	ANKRD1	VPS33A	POLG	PALB2	RNASEH2B	JAG2	PRDM16	LZTR1	CPT1A	ALMS1	BRCA2	TNNT2	RYR2	PRKAG2	LAMA4	COA5	MYH7	JPH2	PEX5	TTR	SCN5A	FKRP	WARS2	PCCA	ABCC6	MEN1	NEXN	NEK8	ERCC8	SPEG	HPS1	B2M	GMPPB	FKBP6	NDUFA1	MGME1	ATAD3A	HNRNPA2B1	MYPN	MT-ND6	PEX6	ABHD5	POMGNT1	CCND1	NAGA	MT-ATP6	DMD	PYGM	MAD2L2	NDUFV2	ATP6V1A	SGSH	MMUT	BRIP1	NNT	CAVIN1	ERBB3	POMT1	GATAD1	IL12A-AS1	SLC6A6	MAP2K2	TFR2	FTO	SLC1A3	NDUFS4	MT-ND5	TANGO2	FAH	GABRD	TTPA	FKTN	IL12B	MLX	MT-TL1	RAF1	BAG5	CLPB	COX10	SLC40A1	SGCB	FASTKD2	SLC19A3	PDHA1	INSR	FLNC	RYR1	GPC3	SURF1	DSP	CISD2	TCAP	CRYAB	SDHA	TWNK	LSM11	SUFU	NDUFS8	VAC14	NDUFS1	MRPL3	BAZ1B	VCL	VHL	BMP2	CASQ2	VCP	PEX10	ACTC1	SDHAF1	EIF4H	GLB1	PEX11B	SMC1A	HAMP	MT-TF	EYA4	KLRC4	KLF1	CSRP3	COQ4	PHKG2	ANK1	KCNH1	NDUFAF3	SDHD	SLC22A5	MC2R	LIAS	RBM20	PEX12	TTN	HBB	CAV1	FANCC	CAP2	ITPA	ATP5MK	TMEM43	SHOC2	IL10	NF1	PEX7	KCNJ5	PEX13	MEG3	LDB3	XRCC4	IDUA	EMD	ERCC6	SYNE2	METTL27	TKFC	TAF1A	SGCA	XYLT1	SPTA1	STAT4	QRSL1	TGFB1	GLA	MT-TH	NDUFB7	EPB42	NEB	HCCS	SHMT2	UCP2	IRF4	HADH	KRAS	PMM2	GTF2H5	SLC4A1	ACADVL	ERAP1	AIP	PPP1CB	BCL7B	MYH6	PPP1R21	ECHS1	HLA-B	NCF1	KIF20A	TOP3A	COL7A1	MYSM1	PNPLA2	FOXRED1	PLN	GTPBP3	IFNGR1	PPARG	AHCY	HRAS	DLD	POMT2	BBS2	CHKB	ALG3	SOS1	FANCI	RNU4ATAC	NDUFB9	ACAD8	NEU1	TPM2	TPM1	AGL	GSN	HGSNAT	XRCC2	NDUFA11	NDUFB3	TULP3	KLHL41	MYL3	NDUFS2	ERCC3	GATA4	PEX19	C1QBP	LIPT1	RNASEH2A	LAMB3	NDUFAF8	NDUFAF5	DNAJC19	PEX2	HSD17B10	ATP5F1D	MT-CO1	DSG2	PRKCZ	SDHB	BRAF	C4A	PSEN1	MRPS22	MT-ND3	MTO1	SGCD	MYO18B	DLK1	IL23R	NDUFA10	FLNA	MEFV	KCNJ8	FANCF	GATC	TAFAZZIN	NPPA	CARS1	HNRNPA1	RRM2B	BUD23	NUP107	NFS1	MYL2	GNE	PPCS	MT-ND2	DCAF8	MYBPC3	PARS2	MAP2K1	COX14	MYOT	RNF113A	NDUFS3	WFS1	POMK	AGPAT2	MICOS13	MMP1	FANCM	CACNA1A	UBE4B	MT-TW	MT-TN	DEF6	IDS	ADA2	PPA2	SAMHD1	ADAR	LMOD2	HAND2	LAMA3	RNASEH1	TNFRSF1A	FANCE	TK2	FANCG	MT-CO3	TERT	NONO	D2HGDH	SELENON	NDUFB10	FANCB	FBXL4	UBE2T	RIT1	ACTA1	CASZ1	MYOCD	GATA5	TLR4	ACADS	ENPP1	COX6B1	ATP5F1E	HSPG2	PCCB	HMGCL	NDUFB8	PEX1	GPX4	NUBPL	ADORA2A	NDUFA12	KBTBD13	NDUFAF2	MLXIPL	GJA5	ABCC8	TMPO	XK	LTBP4	RMND1	TXNRD2	FNIP1	IKZF1	RAD51C	SERPINE1	GTF2E2	PDPN	COA8	LRPPRC	IDH2	FANCA	PHYH	ANO5	GBA1	SLC2A10	SCO2	ANKS6	SCARB2	MT-TS2	CLIP2	FIG4	RFWD3	MT-TQ	SRP54	NDUFA4	BMP6	JUP	PRUNE1	MLYCD	PKP2	NDUFV1	COA6	COQ2	CDKN1C	MRAP	SPRED2	BRCA1	EPG5	TMEM126B	SBDS	MRPL44	ELAC2	GYG1	FXN	CENPE	STAR	MT-TV	PIGT	NDUFAF1	MMP23B	SYNE1	ATP1A2	HJV	RMRP	ELN	ANKRD11	PET100	CALM2	TPM3	SLC30A10	CLN3	MYLK2	COX7B	ERCC4	BSCL2	MCM10	PEX14	NDUFS6	LAMP2	GUSB	YARS2	NDUFAF4	GPR101	PEX26	KCNQ1OT1	SLC5A6	MYOZ2	TPI1	FOS	PHKA2	DPM3	RNU7-1	DTNA	RPL3L	SPEN	TRIP4	MIPEP	SKI	VARS2	CAV3	SPTB	ATP1A3	PSEN2	GTF2IRD1	GNS	AARS2	UQCRFS1	BCS1L	XYLT2	MIB1	PDGFRA	VPS13A	MTFMT	TMEM70	MMACHC	LAMA2	DHCR7	MPLKIP	ALPK3	TNNI3K	LUZP1	UBR1	NDUFA6	PEX16	SLC19A2	RFC2	FANCD2	RBCK1	MT-TT	TBL2	TRIM37	IGF2	GTF2I	DOLK	KCNAB2	GAA	KCNQ1	STX1A	MRAS	DNAJC30	KCNJ11	MT-TE	RERE	TSFM	RNF220	TACO1	TIMMDC1	TRMT5	IL12A	SUCLG1	TARS1	NRAS	FLAD1	BOLA3	DNAJC21	SMPX	SLC25A3	SARDH	GYS1	RAB3GAP2	ERCC2	NDUFAF6	KCNJ2	HCN4	LAMC2	CCR1	DSC2	SLX4	KANSL1	MT-CO2	GBE1	GTF2IRD2	LIMK1	FANCL	USP9X	RTL1	TGFB3	HADHB	TMEM270	POLG2	PGM1	UBAC2	PYGL	RAD51	MRPS14	NAXD	KAT6B	NBAS	FAS	FHOD3	TRDN
HP_HYPERTROPHIC_CARDIOMYOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTROPHIC_CARDIOMYOPATHY	MT-ND4	NDUFB10	NDUFA2	NDUFA9	FANCB	VPS37D	FBXL4	ACAD9	OPA1	UBE2T	LRP12	TKFC	RIT1	MYL2	AIP	RNASEH2C	MT-ND1	NDUFB11	PTPN11	KRAS	MT-TK	NDUFS7	GNPTAB	IFIH1	COX6B1	ATP5F1E	TNNI3	SLC25A4	NAGLU	NDUFA13	AGK	MT-TL1	FHL1	NDUFB8	COX15	TAPT1	HADHA	TMEM126A	NUBPL	VPS33A	PALB2	NDUFA12	RNASEH2B	NDUFAF2	LZTR1	CPT1A	MLXIPL	BRCA2	PRKAG2	COA5	JPH2	ABCC8	MEN1	NEK8	NDUFA11	TXNRD2	FNIP1	FKBP6	NDUFA1	RAD51C	ATAD3A	HRAS	MT-ND6	NAGA	MT-ATP6	NDUFA10	PYGM	MAD2L2	COA8	RAF1	LRPPRC	FANCA	NDUFV2	ATP6V1A	SGSH	SLC2A10	SCO2	ANKS6	MT-TS2	CLIP2	BRIP1	NNT	NDUFS3	CAVIN1	RFWD3	MT-TQ	FOXRED1	MYPN	MAP2K2	FTO	NDUFA4	NDUFS4	MT-ND5	TANGO2	CSRP3	FAH	DES	TTPA	PRUNE1	NDUFV1	COA6	COQ2	IL12B	ABCC9	MLX	MRAP	SPRED2	BRCA1	TMEM126B	TNNT2	FASTKD2	MRPL44	SLC19A3	PDHA1	INSR	ELAC2	FLNC	FXN	SURF1	NDUFAF3	STAR	MT-TV	LSM11	SUFU	NDUFS8	NDUFAF1	SYNE1	NDUFS1	MRPL3	BAZ1B	VCL	ELN	PET100	SLC30A10	SDHAF1	CLN3	MYLK2	EIF4H	GLB1	ERCC4	SMC1A	TTR	BSCL2	MT-TF	BRAF	KLF1	HSD17B10	COQ4	NDUFS6	SDHD	LAMP2	SDHA	YARS2	SLC22A5	MYH6	MC2R	LIAS	LMNA	PPA2	NDUFAF4	GPR101	TTN	NDUFAF5	CAV1	FANCC	ATP5MK	TMEM43	SHOC2	MYOZ2	TPI1	NF1	FOS	MEG3	RNU7-1	EMD	SYNE2	METTL27	MIPEP	TCAP	VARS2	CAV3	QRSL1	TGFB1	NDUFS2	GLA	MT-TH	COX7B	NDUFB7	BAG3	HCCS	GTF2IRD1	GNS	SHMT2	UCP2	AARS2	UQCRFS1	HADH	BCS1L	PMM2	ACTC1	MTFMT	PPP1CB	TMEM70	BCL7B	MYH7	PPP1R21	ECHS1	NCF1	KIF20A	DHCR7	ALPK3	PPARG	NDUFA6	ACTN2	RFC2	FANCD2	CRYAB	TBL2	DLD	SOS1	GTF2I	FANCI	NDUFB9	TREX1	GAA	TPM1	HGSNAT	XRCC2	STX1A	GTPBP3	NDUFB3	MRAS	TULP3	MYL3	DNAJC30	GATA4	MT-ND2	KCNJ11	MT-TE	LIPT1	RNASEH2A	TNNC1	NDUFAF8	TSFM	MT-CO1	SDHB	MRPS22	MT-ND3	TACO1	TIMMDC1	MTO1	TRMT5	SUCLG1	DLK1	NRAS	BOLA3	KCNJ8	HLA-B	FANCF	TAFAZZIN	BUD23	NFS1	SLC25A3	SARDH	MYBPC3	MAP2K1	COX14	MICOS13	NDUFAF6	FANCM	SLX4	MT-CO2	MT-TW	MT-TN	GTF2IRD2	LIMK1	FANCL	ACADVL	NEXN	RTL1	SAMHD1	ADAR	PLN	TMEM270	FANCE	PYGL	FANCG	MT-CO3	RAD51	MRPS14	AGPAT2	FHOD3
HP_CARDIOMEGALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIOMEGALY	DNAJC30	COX5A	PLXND1	JUP	ABCC6	VPS37D	BMP6	GATB	PLAGL1	GAA	FOXE3	C1QBP	CPT2	RNASEH2A	FIG4	MYLK	ACTN2	RNASEH2C	PRKAR1A	DES	HSD17B10	ABCC9	RNU7-1	DYSF	TGFB2	FUCA1	HFE	GNPTAB	CDKN1C	METTL27	ASXL1	ACTA2	COX6B1	DOHH	NAGLU	ENPP1	PEX7	NDUFB7	MAT2A	FOCAD	CHST3	ZIC3	TAPT1	TET3	GTF2IRD1	KCNJ8	FBN1	AARS2	BUD23	NHLRC2	LSM11	WDR37	CPT1A	CACNA1C	HEXB	MYH11	PRKAG2	SMAD4	VAC14	BAZ1B	DSP	RNASEH2B	HBB	ELN	MYBPC3	BMP2	ACADM	TGFB3	BCL7B	MLXIPL	NDUFC2	LOX	NCF1	CLIC2	MOGS	TTR	COQ2	PSMB8	EIF4H	ALPK3	TGFBR1	NAA10	GTF2IRD2	GBA1	LIMK1	LAMP2	IFIH1	FKBP6	MFAP5	ACADVL	NKX2-6	PDSS2	SAMHD1	RFC2	ADAR	SLC29A3	PAM16	TBL2	HEY2	TMEM270	TRIM37	HYMAI	IGF2	PRKG1	SLC22A5	SMAD2	GTF2I	NAGA	PHYH	PGM1	B3GAT3	SDHA	NEK9	PIGS	MTTP	CLIP2	TREX1	NEU1	KCNQ1OT1	NONO	KCNQ1	TGFBR2	STX1A	STAT2	MT-CYB	SLC17A5	SMAD3
HP_ABNORMAL_PULMONARY_VALVE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PULMONARY_VALVE_MORPHOLOGY	POLR3A	TMEM70	EOGT	POLA1	KAT5	SEC24C	LZTR1	NOTCH1	TNFSF11	FOXF1	KIF7	IDS	SNX10	ZNF699	DAXX	NRAS	B3GLCT	HIRA	PRKAR1A	TBX1	CBL	FLT4	PIGL	DYRK1A	RRAS2	NXN	DLL4	BRAF	SOS2	KRAS	GP1BB	ARVCF	RAF1	RBPJ	ARHGAP31	JMJD1C	TCIRG1	PTPN11	SPRED2	ZEB2	DOCK6	RREB1	TGFBR2	CLCN7	RRAS	MRAS	SALL1	RIT1	DDX3X	RNF135	SOS1	RASA2	ATRX	COMT	DACT1	UFD1	ROR2
HP_PULMONIC_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONIC_STENOSIS	SPRED1	DNAJC30	PLXND1	TBX2	VPS37D	LRP4	GATA6	CIC	KCNH1	SHOC2	PRDM5	NF1	GPC4	RIT1	HIVEP2	ZNF699	ENPP1	GDF1	FKTN	NOTCH1	LTBP2	WNT4	RAB23	WASHC5	PTPN11	KRAS	FLT4	BRAF	METTL27	PLD1	PGAP1	IGFBP7	ELN	SPRED2	MAP2K2	NEK9	B4GALT7	CREBBP	FBXW11	NDUFS2	NRAS	SOS2	NDUFB8	ZIC3	GTF2IRD1	SURF1	G6PC3	ZEB2	WAC	CHST3	TAB2	CCDC32	KAT6A	NDUFAF3	BUD23	GATA4	BMP2	ADK	B3GLCT	SARDH	CYP24A1	LZTR1	RPL27	ADAMTS10	BAZ1B	BPTF	FBN1	ZNF341	FAT4	MAP2K1	CCDC22	PPP1CB	POLR3A	BCL7B	MLXIPL	SMAD3	ADAMTS19	TRAF7	KDM6A	NCF1	PSMD12	SMC3	DCHS1	KANSL1	BCOR	EIF4H	AGO2	NEK8	MGP	GTF2IRD2	NRXN1	LIMK1	ARHGAP31	FKBP6	NKX2-6	ARPC4	HRAS	RFC2	NOTCH2	GPC3	SLC29A3	TBL2	SKIC3	COL3A1	TMEM270	RAD21	KIF20A	SGO1	ZNF469	CDC42	SOS1	RAF1	GTF2I	CHD7	OTUD5	CIROP	SCO2	ANKS6	SMAD2	ACAD8	CLIP2	CUL3	RNF135	DSG1	STRA6	TBCK	STX1A	BUB1B	MRAS	MAP3K7	EP300
HP_PATENT_DUCTUS_ARTERIOSUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATENT_DUCTUS_ARTERIOSUS	CHRM3	MKKS	SEMA3E	FANCB	VPS37D	ABCD4	CTCF	ARSL	FOXE3	UBE2T	GPC4	RIT1	GJA1	KYNU	TMTC3	ZNF699	CASZ1	MYOCD	MEGF8	IPO8	SMARCB1	PTPN11	SETD2	TGFB2	COL18A1	DHCR7	HSPG2	GLB1	GLI3	GP1BB	MAT2A	SMARCA4	ARFGEF2	KCNN3	ZIC3	FBN1	ZEB2	TGFBR2	WAC	ZMPSTE24	RREB1	KAT6A	FLNA	IGBP1	CD96	ARID1B	MYH11	VPS33A	DPM1	WT1	PALB2	ADAMTS10	ALG12	CREBBP	LZTR1	MLXIPL	BRCA2	ASXL2	NADSYN1	LOX	PLCB3	PIGN	PSMD12	FGFR3	AGO2	TGFBR1	TFAP2B	FGF10	TBX1	PRDM16	PACS1	MKS1	GATA6	C2CD3	FKBP6	NPHP3	HDAC4	RAD51C	NCAPG2	APC2	RPL5	HEY2	ARID1A	TRIO	FANCF	PDPN	MAD2L2	CDC42	CHD7	FANCA	PRDM13	ANKS6	ARX	CLIP2	BRIP1	SUPT16H	FOXF1	KANSL1	DHCR24	TRRAP	CEP120	ARF1	RFWD3	SMARCD1	MID1	ZNF148	PPP1CB	FTO	GNA11	TBX5	PCGF2	AMMECR1	MYCN	KRAS	CSGALNACT1	PAK2	NAA20	GABRD	STXBP1	SKIC3	COA6	SLC25A24	UBR7	ABCC9	POLR1D	PRDM6	TCOF1	SAMD9	BRCA1	RAC1	NSD1	FOXC1	DNMT3A	MAP1B	GATA4	B3GLCT	UMPS	WDR37	PIGT	CCDC22	MGAT2	MMP23B	CTU2	POLR1A	COMT	BAZ1B	BPTF	AFF4	ELN	DVL3	EP300	ZMIZ1	SEC24C	TRAF7	XRCC2	NOTCH2	ACTB	SMAD3	SON	EIF4H	LARS2	NAA10	ERCC4	MCTP2	MFAP5	DYRK1A	DNAH9	GJA8	ERMARD	SLC29A3	SMARCE1	SOX11	COQ4	HYMAI	KCNH1	EZH2	PRKG1	BRAF	NKX2-5	MASP1	NONO	MYH7	KCNE5	SMAD2	THOC6	SNRPB	ACSL4	ASCC1	POGZ	TBX4	AMER1	SHANK3	RSPRY1	DACT1	FANCC	ADAT3	PLXND1	HACD1	GLYCTK	LMNA	POLR1C	FANCD2	BCOR	DTNA	IGF2	SPEN	TRIP4	ECE1	METTL27	SKI	ACTA2	MYRF	SIK3	RBP4	GTF2IRD1	OCLN	G6PC3	PEX19	TRIP11	SMARCA2	TP63	TMEM94	CHD4	PEX1	FOXC2	CACNA1C	SNX14	FBN2	RPL11	RAB23	BCL7B	LMBRD1	NOTCH3	WDPCP	MAPKAPK5	SPECC1L	NCF1	TKT	EXT2	RERE	LUZP1	EOGT	NKX2-6	SMAD4	EED	MRPS16	RFC2	KAT6B	TBL2	GATA1	TMCO1	PORCN	PPFIBP1	RPS26	GTF2I	MED12	FANCI	YY1AP1	KCNAB2	SMARCC2	ZMYM2	PHGDH	STRA6	MAF	STX1A	DNAJC30	ESCO2	FKBP14	TBX2	CDC42BPB	NEDD4L	PLAGL1	PCNT	HTRA2	SNRPN	BMPR1A	MYLK	TSFM	KAT8	HIRA	STAG2	SALL4	PRKCZ	LMX1B	SOX4	SUCLG1	RBM8A	SKIC2	SOX2	ARVCF	FOCAD	PUF60	KCNJ8	ZBTB7A	PRIM1	AGGF1	SF3B2	FGFR2	COG6	POLR1B	BUD23	NFIX	PTEN	SF3B4	KMT2B	TWIST1	ARL6IP6	MAP2K1	ARID2	TGFB3	DYNC2LI1	GJA5	SIX6	UBE2A	FANCM	DMPK	SMC3	CADM3	SLX4	UBE4B	ALG8	TTC26	TBC1D24	PIGA	GTF2IRD2	LIMK1	FANCL	USP9X	ANK1	DPF2	HPGD	GPC3	WDR35	SSR4	TMEM270	WLS	JMJD1C	FANCE	FANCG	CIROP	ALB	SALL1	USP18	CALM3	RAD51	NODAL	UFD1	MAP3K7	TALDO1
HP_DILATED_CARDIOMYOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DILATED_CARDIOMYOPATHY	MT-ND4	TNNC1	LMNA	ACTC1	ADCY5	ACAD9	CAP2	ABCC9	TMEM43	BAG3	LRP12	MYL2	ACTA1	CPT2	FKTN	DES	CASZ1	JPH2	KCNJ5	HJV	FHL2	MT-ND1	GATA5	DPM3	NDUFB11	LDB3	XRCC4	RPL3L	SPEN	SYNE2	TKFC	TAF1A	MT-ND5	SGCA	BRCC3	SKI	ACTN2	RRM2B	HSPG2	POLG	NDUFS2	MT-TH	COX7B	ENPP1	COL7A1	MT-TL1	PSEN2	HMGCL	NDUFB8	LIMS2	HCCS	TNNT2	DMD	TNNI3	TWNK	HADH	ANKRD1	ACADVL	VPS13A	SDHD	EYA4	PRDM16	MMACHC	ALMS1	MYH7	MYH6	LAMA4	TOP3A	SCN5A	FKRP	TMPO	NEXN	XK	PLN	TNNI3K	SPEG	LUZP1	MT-TK	UBR1	MGME1	MYPN	MT-ND6	RBCK1	MT-ATP6	POMT2	BBS2	PDPN	CHKB	TTN	NUP107	MYBPC3	BAG5	DOLK	KCNAB2	FHL1	RYR2	SLC2A10	SCO2	MT-TS2	ACAD8	TPM2	CSRP3	ERBB3	EPG5	GATAD1	SLC6A6	MT-TQ	TXNRD2	TPM1	TAFAZZIN	SLC25A4	MT-ND2	RERE	JUP	GABRD	LAMB3	DNAJC19	MLYCD	TSFM	SGCD	RNF220	ATP5F1D	MT-CO1	DSG2	PRKCZ	PSEN1	RAF1	MEFV	SGCB	BOLA3	RYR1	SURF1	DSP	TCAP	NDUFAF3	CRYAB	SDHA	MT-TV	MMP23B	SYNE1	PPCS	ANKRD11	CASQ2	HBB	TPM3	HADHA	KCNJ2	MMP1	LAMC2	VCL	RBM20	MT-CO2	UBE4B	MT-TW	GLB1	LAMP2	DEF6	HAMP	MT-TF	ADA2	MT-ND3	LMOD2	HAND2	LAMA3	POLG2	PGM1	MT-CO3	TERT	HADHB	NAXD	KAT6B	SLC5A6	SELENON	TRDN
HP_ABNORMAL_AORTIC_VALVE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_AORTIC_VALVE_MORPHOLOGY	PPM1D	CHRNG	SEMA3E	FANCB	VPS37D	IFT122	FOXE3	UBE2T	B3GALT6	EDNRA	TNXB	MYOCD	FBN1	GATA5	PLCH1	TGFB2	FLNA	METTL27	ELN	TBX1	ACTA2	GLA	GP1BB	MAT2A	GTF2IRD1	ZEB2	XYLT2	WAC	RREB1	MMP21	FBN2	PALB2	NFE2L2	NKX2-5	TMEM70	SMAD6	BCL7B	MLXIPL	BRCA2	ADAMTS19	NADSYN1	CREBBP	NOTCH3	LOX	RPS6KA3	MYH7	NCF1	HGD	RPL26	AGO2	TGFBR1	BCOR	PPP2R5D	PACS1	ARHGAP31	WT1	FKBP6	RAD51C	RAC1	RFC2	FANCD2	HNRNPK	TBL2	HEY2	TAB2	BBS2	SGO1	MAD2L2	SMAD2	GTF2I	OGT	FANCA	IFIH1	FANCI	MMP14	BCAS3	GBA1	CLIP2	BRIP1	FOXF1	KANSL1	ARSK	RFWD3	XRCC2	DPF2	TGFBR2	LMNA	STX1A	SKI	SRY	DNAJC30	TAF2	AMMECR1	SH2B1	SPTBN1	SNIP1	MYLK	SKIC3	CHD7	HIRA	CAPN15	BRAF	IL12B	NAA10	MLX	MYH11	MAP2K2	DOHH	BRCA1	H3-3A	SKIC2	CBL	ARVCF	PUF60	CHST3	HLA-B	FANCF	ROBO4	RAI1	ZMPSTE24	BUD23	NFIX	MMP2	NOTCH1	SLC25A24	SMAD4	COMT	BAZ1B	GNPTAB	TGFB3	SEC24C	GJA5	KIF3B	FANCM	ACTB	SMC3	GATA6	SMAD3	SLX4	EIF4H	ABCC9	GTF2IRD2	LIMK1	ERCC4	FANCL	MCTP2	ADA2	MFAP5	GJA8	ZNF462	TMEM270	THSD4	PRKG1	JMJD1C	B3GAT3	FANCE	KCNE5	MYH3	FANCG	ACSL4	CCNQ	NXN	FDFT1	YY1AP1	RAD51	UFD1	FANCC	MAP3K7	EP300
HP_COR_PULMONALE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COR_PULMONALE	TGFB1	BTK	MAP3K20	HACD1	CFTR	SREBF1	MYL2	SELENON	ACTA1	TPM3	TPM2	ITGA7	FLNA	FCGR2A
HP_TACHYCARDIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TACHYCARDIA	VHL	SPRED1	CDH2	TBX20	RHD	PLXND1	CACNA1S	TRDN	NUP155	GATA6	TANGO2	KCNJ11	CSRP3	SDHD	KIT	PKP2	HMBS	MYOZ2	LMNA	CITED2	SLC12A3	JUP	CSF2RA	CPT2	ZNF699	KCNJ5	DSG2	VPS33A	AKAP9	SLC25A20	FMO3	RHAG	DSP	CALM1	MAX	ECE1	TECRL	SRSF2	SCN2B	HCN4	RYR2	TTN	RHCE	SCN9A	CTNNA3	RET	TSHR	MYRF	SDHB	SEMA3A	DNMT3A	ABCC9	FLAD1	SCN3B	CPOX	CNBP	GYG1	TET2	HLA-DRB1	SCN5A	NPPA	UCP2	BMP2	MYL2	MYH6	CRYAB	SLC19A2	HNF1A	PPOX	SLMAP	ACADVL	ACTC1	CACNB2	RYR1	CUBN	CASQ2	SCN10A	CALM2	HFE	TRPM4	RANGRF	TLL1	FBP1	CALM3	CSF2RB	NDUFB11	MYH7	DST	JPH2	KCNJ2	ABCC8	KYNU	CACNA2D1	COX7B	KCND3	ABCA3	NAA10	TNNI3K	TMEM43	TPM1	KCNE5	NKX2-5	HNF4A	ACTN2	NKX2-6	AMN	KCNE3	TMEM127	LMOD2	PYGM	SDHC	SCN1B	KIF1B	BAG5	GPD1L	PGM1	SCNN1A	ELP1	KCNJ18	SFTPB	SFTPC	KCNJ8	GNAI2	BTNL2	NAXD	PRORP	GATA4	ASXL1	CAVIN1	MT-CYB	CACNA1C	SRY	HCCS
HP_AORTIC_VALVE_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AORTIC_VALVE_STENOSIS	GATA5	CCDC22	SCN1B	TWIST1	SLC2A10	GJA1	CREBBP	NOTCH2	HAAO	VWF	ACTB	FLI1	RMRP	SNIP1	BCOR	TAF2	NEK8	LTBP2	NOTCH1	GNPTG	WASHC5	RIGI	TTR	ARHGAP31	GLB1	EHMT1	NPHP3	KRAS	DYRK1A	SMAD4	DPH1	LMNA	B4GALT7	TAB2	CBL	CLIC2	NR2F2	SMAD6	FGFR1	IFIH1	IDUA	ZEB2	CHST3	ROBO4	ANKS6	ZMPSTE24	EBP	FBN1	CYP24A1	FOXF1	ARSK	WT1	NKX2-5	AMER1	ADAMTSL2	ADAMTS10	GBA1	EP300
HP_ABNORMAL_HEART_VALVE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEART_VALVE_MORPHOLOGY	EOGT	CHRNG	SEMA3E	FANCB	VPS37D	IFT122	FOXE3	UBE2T	CITED2	IDS	GJA1	FBN1	TMTC3	ZNF699	CASZ1	MYOCD	IPO8	GATA5	NDUFB11	TPM2	KRAS	EXTL3	TGFB2	PLOD1	ENPP1	NSD2	HSPG2	GP1BB	MAT2A	FMN2	ARFGEF2	ATP6V1E1	PTPN11	ZIC3	MMP2	ZEB2	XYLT2	WAC	DOCK6	RREB1	MMP21	RRAS	SKI	RIT1	PALB2	DSE	PKD1	BIN1	CREBBP	POLR3A	SMAD6	NPR3	MLXIPL	BRCA2	MTX2	NADSYN1	MYH7	LOX	NOTCH1	RPS6KA3	VWF	FLNA	ABCC6	YY1	HGD	RPL26	AGO2	PRG4	TGFBR1	TBX1	PRDM16	SH3PXD2B	PPP2R5D	PACS1	GATA6	FKBP6	RAD51C	ACTC1	HRAS	HNRNPK	RPL5	HEY2	TAB2	SGO1	PDPN	MAD2L2	RAF1	CHD7	FANCA	MMP14	MAP3K7	BCAS3	GBA1	CLIP2	FMR1	BRIP1	AEBP1	FOXF1	KANSL1	ARF1	RFWD3	ATRX	SLC6A6	DPF2	NKX2-5	ROR2	GATA4	TGFBR2	LMNA	SRY	SPRED1	PCGF2	AMMECR1	MYCN	TNFSF11	SPTBN1	FREM1	KIF7	GABRD	NRAS	SKIC3	GNB2	BRAF	IL12B	NAA10	ABCC9	MLX	COL3A1	MYH11	SPRED2	MAP2K2	DOHH	SELENON	BRCA1	CBL	SMAD4	RAC1	FGFR1	RBPJ	ARHGAP31	MAP1B	POLG	CLCN7	SPEG	MMP23B	VPS13B	COMT	BAZ1B	ELN	CCDC22	RYR1	POLA1	DNAJB11	EP300	SEC24C	LZTR1	KIF3B	ACTB	SMAD3	SNX10	DAXX	EIF4H	B3GALT6	GLB1	ERCC4	TPM1	MCTP2	ADA2	MFAP5	NXN	GJA8	ERMARD	SLC29A3	ZNF462	TWNK	THSD4	COL1A2	PRKG1	GUSB	BRF1	NONO	PUF60	KCNE5	MYH3	ACSL4	COL5A1	CCNQ	SOS1	FDFT1	DACT1	FANCC	TMEM260	PRKACB	DNASE1L3	PPM1D	TBX20	CBS	PLXND1	KAT5	DZIP1	COL2A1	SACS	PRDM5	NF1	PKD2	EDNRA	TNXB	JPH2	PRKAR1A	PLCH1	TTN	BCOR	IDUA	SPEN	RRAS2	METTL27	DLL4	XYLT1	ACTA2	GLA	MYRF	COX7B	HCCS	GTF2IRD1	MRAS	TMEM94	CPLX1	DDX3X	FBN2	MAPK1	SLC34A2	NFE2L2	TMEM70	BCL7B	ADAMTS19	TLL1	COL1A1	NOTCH3	NCF1	LETM1	DCHS1	LUZP1	WT1	DYRK1A	NKX2-6	RFC2	FANCD2	TBL2	GATA1	BBS2	ZNF469	SMAD2	GTF2I	OGT	IFIH1	FANCI	PIGG	KCNAB2	MED12	RNF135	NELFA	ARSK	XRCC2	STX1A	DNAJC30	TAF2	MYPN	FIBP	SH2B1	LTBP3	NEDD4L	RERE	COL5A2	SNIP1	MYLK	HIRA	CAPN15	FLT4	PRKCZ	GANAB	PLD1	EVC2	SOS2	H3-3A	SKIC2	SMPD1	WASHC5	ARVCF	CHST3	KCNJ8	HLA-B	FANCF	AGGF1	ROBO4	RAI1	GLI1	ZMPSTE24	BUD23	NFIX	RASA2	SLC25A24	HNRNPH2	ALG5	GNPTAB	TGFB3	GJA5	CHST14	HCN4	FANCM	MYH6	SMC3	SLX4	UBE4B	B3GLCT	GTF2IRD2	LIMK1	FANCL	PIGL	ANK1	TMEM270	BICC1	CLIC2	JMJD1C	TCIRG1	GALNS	B3GAT3	FANCE	DYNC2LI1	MAP2K1	FANCG	IFT140	SALL1	YY1AP1	RAD51	ALG9	CTBP1	HEXB	TPM3	UFD1	EVC	PRKACA
HP_PATENT_FORAMEN_OVALE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATENT_FORAMEN_OVALE	HACD1	GATA6	TMEM147	CDC42BPB	CSGALNACT1	FOXF1	NF1	SNRPN	STAT1	RIPK4	LTBP4	ZNF699	COL11A1	TSFM	NOTCH1	IPO8	STAG2	MAP3K7	IGF1R	UBR7	VPS33A	ANAPC7	RPL3L	TRIP4	AMMECR1	DSE	PLD1	ALG12	SUCLG1	CREBBP	PACS1	TASP1	FBXW11	RAC1	FLNA	FOCAD	CHST3	ZIC3	OCLN	GNB5	AFF4	PRIM1	YY1	FANCI	RAI1	TBX20	KDM1A	TMEM94	STAMBP	WDR37	KRAS	CACNA1C	ACADVL	RELN	MRPL3	TWIST1	SDHD	CHMP1A	DVL3	PKDCC	GNPTAB	CDK8	SH3PXD2B	EP300	MTX2	LMNB1	SETD1A	KATNB1	TKT	UBE2A	HSPA9	CACNA1D	AGO2	TTC26	NDE1	NKX2-1	NAA10	RERE	SCUBE3	PPP2R5D	MED13L	VPS33B	NCAPG2	WDR35	DDX6	GATA1	TOM1	TGFB3	WLS	PRR12	ATN1	MED12	NONO	SMG8	B3GAT3	RNU4ATAC	CIROP	FLCN	ASCC1	POGZ	PIGN	FIG4	PHGDH	BICRA	TRRAP	DPF2	MID1	RSPRY1	PPP1CB	TALDO1
HP_AORTIC_REGURGITATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AORTIC_REGURGITATION	ELN	GATA5	IDUA	PLXND1	PCGF2	HLA-B	BUB3	SPTBN1	NEDD4L	FOXE3	CEP57	IL10	BCR	PDSS1	TMTC3	MYLK	SKIC3	COA6	ALDH18A1	GNPTG	TLR4	MYH11	TGFB2	GNPTAB	FLNA	C4A	IL12A	SPRED2	FBLN5	ACTA2	STAT4	DOHH	SKIC2	IL23R	MAT2A	SMAD6	MEFV	ARFGEF2	ATP6V1E1	MAP1B	FBN1	BUB1B	CHST3	SHOC2	ZMPSTE24	GATA4	NOTCH1	SMAD4	ERAP1	KIFBP	TGFB3	SLC2A10	SMAD3	ADAMTS19	LOX	SON	GJA5	CHST14	TRIP13	HCN4	CCR1	CRKL	TTC26	TGFBR1	IFNGR1	EHMT1	C12orf57	MFAP5	DYRK1A	NKX2-6	GJA8	KLRC4	ERMARD	HEY2	THSD4	COL1A2	TAB2	LMOD2	PRKG1	SMAD2	SLC35A1	YY1AP1	PUF60	UBAC2	MAN2B1	MAPK1	ARF1	ARSK	CCNQ	IL12A-AS1	D2HGDH	NKX2-5	BUB1	TGFBR2	LMNA	HEATR3	FAS
HP_TRUNCUS_ARTERIOSUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRUNCUS_ARTERIOSUS	PLXND1	TBX1	SEC24C	GATA6	GP1BB	GJA5	ARVCF	PUF60	ITPR1	JMJD1C	NKX2-5	PSMD12	BCR	CRKL	RREB1	NKX2-6	NEK8	HIRA	MAPK1	STRA6	COMT	GJA8	UFD1	DLL4	TMEM260
HP_BRADYCARDIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRADYCARDIA	LMNA	POU1F1	GLYCTK	TSHB	HTRA2	LAMB3	LHX4	CAV3	CALM2	TG	GRIN1	COQ9	ANK2	SLC25A20	GNB2	TSHR	ASXL1	MYO1H	NOS1AP	TWNK	SCN9A	SCN10A	HCN4	SCO1	PAX8	TNNT2	TSPYL1	GNB5	NPPA	KCNQ1	SCN5A	CALM3	UQCRFS1	SLC5A5	CACNA1C	PRKAG2	KCNH2	KCNA5	SLC4A3	GFM2	GLUL	LIPT1	TPO	KCNE1	ECHS1	HESX1	CALM1	DST	IYD	LAMC2	MYL4	ABCA3	TRPM4	TNNI3K	KCNE2	BVES	SCN4B	DES	DUOXA2	AKAP9	EFEMP2	CLN3	COQ4	TLL1	LHX3	SGO1	SNTA1	CACNA1D	LAMA3	TBX5	BRAT1	TRDN	DOLK	DUOX2	PROP1	KCNJ2	PPA2	SFTPB	SFTPC	CASQ2	USP18	TMEM43	HEPHL1	CACNA2D1	KCNJ5	CAVIN1	NDUFA8
HP_VENTRICULAR_FIBRILLATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENTRICULAR_FIBRILLATION	SCN10A	CALM2	MYL3	TRPM4	KCNQ1	RANGRF	TANGO2	GPD1L	PKP2	CACNA1C	HCN4	SCN5A	CALM1	TNNC1	DHCR7	CACNA2D1	KCND3	AKAP9	KCNE5	DSP	KCNE3	RYR2	KCNE1	ALG10B	SCN2B	KCNH2	CLCNKB	SCN1B	SEMA3A	SNTA1	BAG5	KCNJ18	CACNA1S	SCN3B	GYG1	SCNN1A	ABCC9	DPP6	NDUFB11	KCNJ2	TECRL	MYL2	KCNE2	KCNJ8	SLMAP	PRKAG2	ACADVL	ACTC1	CACNB2	SLC4A3	MYBPC3	GABRA3	SLC12A3
HP_TORSADE_DE_POINTES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TORSADE_DE_POINTES	NOS1AP	ANK2	KCNQ1	KCNE1	TANGO2	SNTA1	SCN10A	KCNJ5	SCN5A	CACNA1C	CALM1	KCNJ2	TBX5	HCN4	TRDN	CAV3	CALM2	CALM3	NAA10	KCNE2	SCN4B	KCNH2	RYR2	ALG10B	AKAP9
HP_RIGHT_VENTRICULAR_HYPERTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIGHT_VENTRICULAR_HYPERTROPHY	SELENON	PLXND1	MYH7	BMPR2	TTN	LAMB2	FOXF1	NONO	GPC4	VIPAS39	ATP13A3	LTBP4	SLC25A12	COLQ	ALPK3	NOTCH1	IPO8	STAMBP	PIGN	DYSF	NPHP3	NKX2-6	VPS33B	SGCG	SFTPB	GPC3	GTPBP3
HP_TRANSPOSITION_OF_THE_GREAT_ARTERIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRANSPOSITION_OF_THE_GREAT_ARTERIES	DNAH9	ZMYND10	CFC1	PLXND1	TBX1	SPAG1	DNAJB13	GATA4	TTC12	GATA6	ACVR2B	GJA5	DNAAF11	FANCB	LRRC56	NKX2-5	QRICH1	RPGR	GPC4	SMG9	DNAI1	GAS8	LMNA	GDF1	DNAH11	FKTN	CFAP221	DNAAF4	GNB2	OFD1	RSPH4A	RSPH3	NEK10	RAB23	DNAL1	HYDIN	WT1	STK36	SPEF2	CFAP298	PIGL	NKX2-6	ODAD4	RSPH1	GJA8	GPC3	ZIC3	CFAP300	MEGF8	ZNF462	CCDC103	MCIDAS	CCNO	RSPH9	ATP2B1	GAS2L2	DNAAF2	CCDC65	DNAAF3	DNAAF6	MED13L	DNAAF5	ZMPSTE24	CIROP	SMAD2	MMP21	DNAAF1	ODAD3	BMP2	FOXJ1	CCDC40	NME8	PHGDH	DRC1	CFAP53	CCDC39	ODAD1	NODAL	ODAD2	DNAI2	DNAH1	DNAH5
HP_ASYMMETRIC_SEPTAL_HYPERTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASYMMETRIC_SEPTAL_HYPERTROPHY	MYH7	CAV3	HGSNAT	MYOZ2	NAGLU	MYL2	PRKAG2	GNS	MYLK2	FHOD3	SGSH	MYH6
HP_ABNORMAL_CARDIAC_SEPTUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CARDIAC_SEPTUM_MORPHOLOGY	LRP2	MGP	MKKS	NDUFA9	SEMA3E	VPS37D	YARS1	CTCF	SPATA5	RARB	GPC4	GJA1	LTBP4	ZNF699	HYLS1	STK4	MEOX1	SMARCB1	RTL1	NDUFB11	PTPN11	SETD2	NDUFS7	CAMK2A	PGAP1	MEGF8	NSD2	FBXW11	NDUFA13	COX7B	GP1BB	ADA2	SMARCA2	ATP6V1E1	COX15	ZIC3	TAPT1	RPS28	ZEB2	XYLT2	WAC	PEX16	NDUFA2	STAMBP	LARP7	FANCC	FLNA	HNRNPR	ARID1B	VPS33A	PALB2	RPS29	CREBBP	CFC1	STAG1	LZTR1	BRCA2	H3-3B	LMNB1	RPL35A	MYH7	TRIP13	NIPA1	PIGN	PIEZO1	PSMD12	WNT4	DPH1	FGFR3	VIPAS39	KAT6B	STAG2	PIGQ	SCUBE3	MACF1	PPP2R5D	MKS1	GATA6	LONP1	FKBP6	NPHP3	VPS33B	NCAPG2	LBR	DPH5	IGBP1	ARID1A	TAB2	COG1	BAP1	PQBP1	TRIO	MAD2L2	ATN1	CHD7	ATP6V1A	NEK9	PRDM13	ARX	BRIP1	SUPT16H	MPL	CDH2	SPEN	TRRAP	ERBB3	SIK1	EXT2	FBN1	PPP1CB	FTO	RAD21	PCGF2	LETM1	MYCN	FOXF1	KDM6A	GABRD	RPL26	IGF1R	UBR7	GRM7	MEIS2	INTU	KMT2D	CRB2	SALL1	CRELD1	UBE3B	EFTUD2	NOTCH3	SLC19A3	RSPO2	PDHA1	KIAA0586	TGDS	GPC3	CDKL5	FANCI	CCDC32	PAH	GATA4	WDR37	NDUFS8	TBX1	CTU2	TCIRG1	VAC14	MRPL3	ASXL1	BAZ1B	MEG3	RPS15A	PRKACA	ZNF341	CCDC22	DVL3	SLC35A2	CACNA1D	SEC24C	NOTCH2	MOGS	MICU1	STRADA	NKX2-5	FLI1	SON	EIF4H	NDE1	CKAP2L	FGF13	MCTP2	TMEM53	DYRK1A	NXN	GJA8	METTL5	SOX11	BRAF	ZNF462	CARS1	COQ4	HYMAI	TLL1	SRCAP	PRR12	NR2F2	MASP1	MED23	TGFBR2	DYNC2I1	FLCN	ASCC1	MED25	PTF1A	NKX2-1	FADD	RAF1	BUB1	EIF2AK3	TMEM260	PRKACB	VPS35L	BRD4	PPM1D	PLXND1	NEK1	MGAT2	KAT5	HACD1	B3GALT6	NF1	STAT1	ERCC4	MYMK	MAP3K7	BCOR	CTBP1	AMMECR1	GATA1	METTL27	XYLT1	SATB1	SYNE1	FGFRL1	NDUFB7	HCCS	H4C3	SLC25A22	G6PC3	BUB1B	SHMT2	TNFRSF11A	SHOC2	TP63	GNAO1	CHD4	CPLX1	PEX1	ADK	FOXC2	DGCR6	KRAS	LEMD2	SNX14	GTF2H5	JAG1	CFAP53	OTUD6B	ACADVL	MAP2K2	SDHD	DLL4	CHMP1A	PEX6	BCL7B	LMBRD1	IFT81	PPP1R21	ECHS1	MAPKAPK5	PEX19	NCF1	HOXA13	TKT	CRKL	FOXRED1	RERE	SMC1A	EOGT	TBX22	DLK1	NKX2-6	SMAD4	ARCN1	RAC1	TNNT2	TMCO1	PEX13	PORCN	HRAS	UMPS	TGFB3	BBS2	SOS1	IFT172	MED12	PIK3R2	PIGG	SMG8	MLXIPL	TAOK1	DDX11	SMARCC2	TTC7A	PHGDH	GDF3	THOC6	FGFR1	BICRA	MAPK1	RPL18	DSG1	STRA6	XRCC2	RNU4ATAC	RPL31	HEATR3	KLHL41	HNRNPK	FIBP	NDUFS2	ERCC3	TBX2	SH2B1	DGCR2	MYPN	SCN1B	ATRX	PLAGL1	PCNT	SNRPN	LIPT1	BMPR1A	PEX11B	HIRA	PPP2CA	RPS19	GLI3	TFAP2B	PRKCZ	PEX12	SETD5	PLD1	SOX4	EVC2	H3-3A	SKIC2	WASHC5	DNMT3A	INSR	ARVCF	FOCAD	PUF60	ALG9	RPL10	GNB5	SMN1	FANCF	AGGF1	ROBO4	RAI1	MYH6	FRMD5	GLI1	BUD23	NFIX	NUP107	LRP5	MYL2	CCDC174	SLC25A24	NUP188	PEX2	RELN	MYBPC3	MAP2K1	RPS20	GNPTAB	SH3PXD2B	RNF113A	CWC27	KATNB1	GJA5	SIX6	CHST14	UBE2A	FANCM	NSD1	DMPK	UBE4B	CCND2	ALG8	TTC26	TBC1D24	PIGA	RPS17	DEF6	ANK1	NAA10	DPF2	POR	WDR35	USP9X	JAM3	NEUROD2	JMJD1C	B3GAT3	FANCE	FANCG	CIROP	SURF1	PEX26	FGFR2	USP18	NONO	SNRPB	TBCK	WBP11	FANCB	ABCD4	HAAO	ARSL	UBE2T	HNRNPU	RIT1	CASZ1	MYOCD	COL11A1	FKTN	NOTCH1	IPO8	GATA5	IDH1	TUBG1	CHRM3	SMARCE1	RPS24	PIGL	MAGEL2	SPECC1L	DHCR7	HSPG2	RPS27	ATP2B1	SLC12A2	ATP6V0A2	SMARCA4	SOS2	UQCRC2	TET3	ZMPSTE24	RREB1	KAT6A	TBX20	NKAP	MMP21	SCN2A	BMP2	ODAD3	KDM5B	CD96	LAMA5	SLC29A3	WT1	ADAMTS10	NDUFA12	ALG12	NDUFAF2	ZDHHC9	NDUFC2	ASXL2	MTX2	DST	HSPA9	GDF6	TBX3	YY1	EPHB4	GLA	AGO2	PRDM16	PACS1	PIGF	EHMT1	C2CD3	DMXL2	KIF11	RAD51C	POLR1A	GTF2E2	SKIC3	APC2	RPL5	NDUFA10	POLR3A	PDPN	CDC42	FANCA	MMP14	PIGO	MED13L	PRRX1	CLIP2	SLC37A4	FIG4	KANSL1	NDUFS3	GPC6	RFWD3	SMARCD1	MID1	ROR2	MT-CYB	NDUFA4	SVBP	TBX5	BUB3	CSRP3	TMEM147	CSGALNACT1	SPTBN1	SLC38A3	ALKBH8	KIF7	NAA20	GNB2	GPX4	CDC45	DSE	NDUFV1	DOHH	BRCA1	TASP1	EXOC2	CDK10	FOXC1	DGCR8	MPLKIP	GYG1	PEX5	CHST3	NIPA2	TCTN3	CITED2	AKT3	B3GLCT	CDK13	MMP23B	COMT	RMRP	AFF4	ELN	ANKRD11	PET100	KIFBP	CDK8	FLNB	POLA1	EP300	FUT8	SMAD3	CASK	WDR26	PIGT	LARS2	SALL4	DNAH9	AHI1	GDF1	PIGP	BRF1	COL1A2	SMAD2	NDUFS4	POGZ	NDUFAF5	KDM3B	TBX4	RPS7	AMER1	CCNQ	SHANK3	RSPRY1	DACT1	TGFBR1	NDUFV2	ADAT3	CLCN3	THPO	LMNA	DDX59	RPS26	PLCH1	DTNA	RPL3L	TRIP4	ECE1	PAX3	SMG9	SKI	HDAC8	PI4KA	SDHA	MYRF	SIK3	MIR17HG	PSMC1	LTBP2	CFAP45	PEX3	GTF2IRD1	OCLN	H4C9	MBTPS2	KDM1A	CEP57	UQCRFS1	TMEM94	RPL15	SLC19A2	PKD1L1	CACNA1C	RPL27	RPL11	FBN2	ACTC1	ACTA2	NFE2L2	TIAM1	MTFMT	CPE	TRAIP	SEC31A	TRIM8	SETD1A	VPS13B	ACVR2B	CEP290	CANT1	ALPK3	LUZP1	TALDO1	UBR1	ARHGAP31	TXNL4A	RFC2	ABL1	FANCD2	RPS10	DDX6	TBL2	PPFIBP1	PACS2	RRAS2	GTF2I	YY1AP1	KCNAB2	CCBE1	PRKD1	SIAH1	ZMYM2	ALDH1A2	NELFA	RBM10	EPG5	EVC	STX1A	AUTS2	MRAS	KCNA1	DNAJC30	ESCO2	ESS2	SETBP1	CDC42BPB	NDUFS1	KCNH1	BCR	NIPBL	RIPK4	TSFM	KAT8	BSCL2	RAB23	ANAPC7	RECQL4	TACO1	UPF3B	ATIC	SUCLG1	RBM8A	TARS1	TSR2	SOX2	SMC3	PEX10	ZBTB7A	PRIM1	SYT1	SF3B2	COG6	KIF15	PTEN	MMP2	SF3B4	PIEZO2	HNRNPH2	IRX5	TWIST1	PKDCC	ARID2	ERCC2	SATB2	DYNC2LI1	COL1A1	PIK3CA	PEX14	FTCD	CYP27A1	NDUFAF6	DPH2	SLX4	GTF2IRD2	LIMK1	FANCL	GRIN1	TOM1	TMEM270	WLS	RPL35	NSDHL	PGM1	OTUD5	RYR1	CUL3	WDPCP	CALM3	HOXD13	RAD51	DNAJC19	NODAL	UFD1	PNKP
HP_COMPLETE_ATRIOVENTRICULAR_CANAL_DEFECT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMPLETE_ATRIOVENTRICULAR_CANAL_DEFECT	TBX1	GDF1	CDC45	WDPCP	ACVR2B	PUF60	INTU	TRIO	NKX2-5	ZIC3	GATA6	IRX5	PRKACA	HYLS1	GATA1	NKX2-6	CIROP
HP_CORONARY_ARTERY_ATHEROSCLEROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORONARY_ARTERY_ATHEROSCLEROSIS	TGFB3	PPP1R17	LMNA	LOX	GHR	ABCG5	CYP27A1	FOXE3	ESR1	LDLRAP1	ABCA1	MYLK	ABCG8	TGFBR1	ERCC8	APOA1	ABCC6	MYH11	MFAP5	TGFB2	ERCC6	PPARG	ACTA2	LDLR	BRCC3	XYLT1	HEY2	PRKG1	SMPD1	CELA2A	EPHX2	SMAD2	MAT2A	APOE	FBN1	APOB	LIPC	CEP19	APOA2	XYLT2	SERPIND1	PNPLA2	PCSK9	ELN	SMAD4	LRP6	GPIHBP1	TGFBR2	CYP7A1	SMAD3	ZNF687
HP_ABNORMAL_AORTIC_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_AORTIC_MORPHOLOGY	PIGN	FGF8	CHRNG	DLL1	GJA1	SEMA3E	FANCB	VPS37D	ABCD4	CTCF	FOXE3	UBE2T	IDS	FBN1	TMTC3	CASZ1	IPO8	RNASEH2C	TUBG1	TPM2	PTPN11	SETD2	TGFB2	KRAS	PLOD1	RPS24	SMAD2	SPECC1L	HSPG2	RPS27	ATP2B1	ENPP1	GLI3	GP1BB	MAT2A	ADA2	ARFGEF2	SOS2	ZIC3	RPS28	ZEB2	TGFBR2	WAC	ZMPSTE24	RREB1	TBX20	ENG	NKAP	MMP21	SKI	THSD1	DIS3L2	MYH11	WT1	PALB2	RNASEH2B	RPS29	CREBBP	SMAD6	LZTR1	NPR3	MLXIPL	BRCA2	LOX	RPL35A	MYH7	TRIP13	NIPA1	HGD	TGFBR1	TBX1	ERCC8	RIN2	PRDM16	STAG2	PGM3	MKS1	GATA6	EHMT1	PTH1R	C12orf57	FKBP6	TGFBR3	RAD51C	ANGPTL6	HNRNPK	DPH5	APC2	HEY2	TAB2	PDPN	MAD2L2	ATN1	CHD7	FANCA	MMP14	ATP6V1A	NEK9	SLC2A10	CLIP2	BRIP1	SUPT16H	AEBP1	PKD1	CDH2	KANSL1	PTEN	TRRAP	ARF1	RFWD3	NKX2-5	MID1	ROR2	ZNF148	GAS1	PPP1CB	SRY	HCCS	GATA5	MYCN	BUB3	DNAH1	SPTBN1	FOXF1	KDM6A	GABRD	GNB2	RPL26	IL12B	MEIS2	MLX	COL3A1	KMT2D	FBLN5	CRELD1	DOHH	MYLK	BRCA1	UBE3B	SMAD4	NSD1	DGCR8	DNMT3A	FGFR1	TGDS	MAP1B	APOB	NIPA2	PAH	PTPN22	RPS19	LSM11	STIL	MMP23B	TGIF1	COMT	BAZ1B	RPS15A	AFF4	ELN	CDK8	FLNB	DNAJB11	EP300	SEC24C	TRAF7	ABCG5	FLI1	SMAD3	ABCG8	EIF4H	COX7B	WDR26	B3GALT6	GBA1	ERCC4	MCTP2	MFAP5	NXN	DNAH9	GJA8	ERMARD	LMNA	CARS1	THSD4	GDF1	SMARCA2	KCNH1	SRCAP	PRKG1	BRAF	NR2F2	PUF60	MYH3	HLA-B	COL1A2	GLI2	P4HA2	COL5A1	ZIC2	RPS7	BUB1	AMER1	FANCC	TMEM260	PLXND1	ABCC6	LDLRAP1	BGN	PKD2	RPS26	ALDH18A1	MAP3K7	MEG3	RNU7-1	ERCC6	SPEN	ACTA2	GATA1	METTL27	SMG9	MYRF	TBX5	SIX3	HLA-DRB1	GTF2IRD1	BUB1B	YY1	CEP57	CHD4	ADK	IFNG	RPL15	DGCR6	PKD1L1	CDON	JAG1	CFAP53	RPL11	FBN2	SLC34A2	FLNA	BCL7B	ADAMTS19	COL1A1	RPL27	NOTCH3	ACVR2B	FOXH1	NDUFB11	NCF1	PTCH1	CRKL	DHCR7	BRF1	TDGF1	LUZP1	TALDO1	NKX2-6	RFC2	ABL1	FANCD2	RPS10	EFEMP2	MED12	TBL2	TGFB3	FGFR2	ALG3	GTF2I	PIK3R2	IFIH1	FANCI	KCNAB2	TREX1	ALDH1A2	MAPK1	RPL18	STRA6	XRCC2	RPL31	STX1A	CYP7A1	RPL5	SHH	NOD2	DNAJC30	MYPN	FKBP14	ESS2	GATA4	DGCR2	NEDD4L	RERE	COL5A2	BCR	RNASEH2A	HIRA	FLT4	PRKCZ	LDLR	GANAB	PLD1	PPP2R1A	SUCLG1	RBM8A	DLK1	TSR2	ARVCF	APOE	NSMCE2	CHST3	FANCF	HDAC4	ROBO4	SF3B2	RAI1	BUD23	TSC1	MMP2	NOTCH1	SLC25A24	ALG5	MAP2K1	CPLANE1	RPS20	DYNC2LI1	GJA5	FANCM	SLX4	UBE4B	BCOR	TTC26	TSC2	GTF2IRD2	LIMK1	NODAL	FANCL	NRAS	RPS17	RTL1	LEMD3	DISP1	NF1	SAMHD1	ADAR	TMEM270	FMR1	EMILIN1	BICC1	RPL35	JMJD1C	PGM1	B3GAT3	FANCE	RNU4ATAC	FANCG	CIROP	IFT140	HRAS	WDPCP	UNC45B	RAD51	ALG9	PCSK9	TPM3	UFD1
HP_COARCTATION_OF_AORTA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COARCTATION_OF_AORTA	GATA5	FGF8	TBX1	CTCF	DLL1	GJA1	ELN	BUB3	ABCD4	KRAS	FOXF1	CEP57	FANCB	KDM6A	KMT2D	SRCAP	GDF1	RPS26	ALDH18A1	RPL26	RPS19	MEIS2	TUBG1	PTPN11	GLI3	RPS24	GATA1	FBLN5	SUCLG1	DOHH	RBM8A	UBE3B	CREBBP	RPS27	TSR2	ADA2	SMAD6	FGFR1	PUF60	SOS2	ZIC3	SIX3	RPS28	TGDS	ZEB2	BUB1B	WAC	NIPA2	SF3B2	TBX20	PAH	CHD4	ADK	RPL15	STIL	MMP2	LZTR1	CDON	NOTCH1	JAG1	TGIF1	RPL11	WT1	RPS15A	RPS29	MAP2K1	CPLANE1	RPS20	CDK8	EP300	DYNC2LI1	RPL27	TRAF7	GJA5	RPL35A	FOXH1	MYH7	TRIP13	NIPA1	NKX2-5	PTCH1	FLI1	DHCR7	TDGF1	STAG2	NODAL	TALDO1	NRAS	MKS1	RPS17	MCTP2	EHMT1	PTH1R	SMAD4	DISP1	GATA6	GJA8	NF1	ABL1	RPS10	SMARCA2	BRAF	ALG3	ATN1	NR2F2	RPL35	MED12	MMP14	PGM1	RNU4ATAC	NKX2-6	CIROP	GLI2	HRAS	SUPT16H	WDPCP	ZIC2	CDH2	RPS7	RPL18	UNC45B	TRRAP	STRA6	MID1	BUB1	RPL31	AMER1	ZNF148	GAS1	RPL5	PPP1CB	SHH	SRY
HP_ANGINA_PECTORIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANGINA_PECTORIS	GLA	LMNA	APOE	ABCG5	HLA-DPA1	PRTN3	JPH2	IDUA	LDLRAP1	MPL	TET2	ATP13A3	ABCA1	ABCC6	TNNC1	APOB	LIPC	ABCG8	ZMPSTE24	APOA1	HLA-DPB1	TTR	PTPN22	LCAT	PMM2	XYLT2	PTEN	PNPLA2	PCSK9	ACTC1	LDLR	JAK2	CYP27A1	CTLA4	ENPP1	XYLT1	TNNT2
HP_SUBVALVULAR_AORTIC_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBVALVULAR_AORTIC_STENOSIS	MYH7	GNB2	CAV3	CEP57	TAB2	ADAMTS19	BUB3	PTPN11	HDAC4	WDPCP	FGFR1	MYH6	FOCAD	TRIP13	IFIH1	SYT2	NKX2-5	ZIC3	BUB1	BUB1B	MYLK2
HP_SECUNDUM_ATRIAL_SEPTAL_DEFECT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SECUNDUM_ATRIAL_SEPTAL_DEFECT	DOHH	TBX5	NR2F2	SH3PXD2B	POLR3A	ATP2B1	CHD7	NKX2-5	H4C3	H4C9	G6PC3	GATA6	SHMT2	PRRX1	GDF1	MYH6	KAT6A	PRDM13	TTC26	NAA10	IDH1	ADK	MEIS2	PTF1A	USP18	KDM5B	TRIP4	PGAP1	RPL11	HEATR3	NF1	METTL5
HP_MYOCARDIAL_FIBROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOCARDIAL_FIBROSIS	TRIM37	DOLK	PPA2	TNNT2	ALMS1	LAMP2	MYH7	RPL3L	JPH2	KIF20A	ACTC1	FLNC	SERPINE1	MYL2	MYPN	TNNI3	LMNA	FKTN
HP_LOSS_OF_VOICE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOSS_OF_VOICE	SDHD	ASAH1	SDHAF2	FTL	SDHA	SDHC
HP_SINUS_BRADYCARDIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SINUS_BRADYCARDIA	NOS1AP	CALM2	ANK2	KCNE1	LMNA	PRKAG2	SNTA1	SCN10A	CACNA1C	CALM1	SCN5A	TBX5	HCN4	TNNT2	TRDN	CAV3	CALM3	TNNI3K	KCNE2	BVES	HEPHL1	SCN4B	KCNH2	KCNA5	KCNQ1	KCNJ5	GNB2	AKAP9	MYO1H
HP_ATRIAL_ARRHYTHMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATRIAL_ARRHYTHMIA	TBX20	LMNA	NUP155	GATA6	SLC25A4	MYPN	CSRP3	KCNJ5	KCNK3	MYOZ2	LRP12	CITED2	TNNC1	DMPK	GJA5	GATA5	DTNA	KCNH2	ANK2	GNB2	KCNJ2	TTN	TNNI3	RRM2B	TNNT2	CACNA1C	PSEN2	TBX5	FLNC	DBH	MFAP5	NPPA	KCNQ1	SCN5A	APRT	TWNK	POLG	ACTC1	KCNA5	SLC4A3	CACNB2	CASQ2	SCN1B	SMAD3	PRKAG2	TLL1	ABCC9	KIF20A	HCN4	MYH6	NKX2-5	MYL4	SCN4B	XK	TNNI3K	TPM1	TTR	NEXN	ACTN2	PLN	TAB2	LMOD2	SCN2B	SGO1	CLIC2	POLG2	MYH7	RYR2	SCN3B	TMEM43	CACNA2D1	NODAL	GATA4	CAVIN1	EMD	MT-CYB	FHOD3	GATAD1	KCNE2	TRDN
HP_CARDIAC_SHUNT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIAC_SHUNT	TTC26	TBX20	THOC6	ACVRL1	TLL1	GATA6	NKX2-5	FOXF1	ACTC1	MYH6	CITED2	ENG	MYH11	GATA4
HP_CARDIAC_ARREST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIAC_ARREST	WIPF1	TRDN	LMNA	NUP155	VPS37D	KCNJ5	ACAD9	PKP2	TMEM43	LDLRAP1	MYOZ2	CAV3	AKAP9	LDB3	DTNA	EMD	TGFBR1	KCNH2	CALM1	SYNE2	ANK2	TECRL	METTL27	ENPP1	SLC25A20	TNNI3	SCN10A	CACNA1C	FHL1	IPO8	SCN5A	HMGCL	SCN3B	TNNT2	HLA-DRB1	GTF2IRD1	TGFBR2	CALM3	SLC19A2	ACTC1	CACNB2	KCNE3	KCNQ1	EYA4	BCL7B	CPT1A	MLXIPL	KCNE1	PRKAG2	CALM2	MYH7	HLA-B	GBA1	NCF1	ABCC6	CACNA2D1	ALPK3	ABCA3	TNNI3K	SCO2	KCNE5	KCNE2	FKBP6	IKZF1	ACTN2	SCN4B	RFC2	WAS	TBL2	GTF2I	GPD1L	SCNN1A	RYR2	SLC2A10	ABCC9	NDUFB11	KCNJ2	CLIP2	TNNC1	TPM1	GNAI2	LRP6	STX1A	MYL3	DNAJC30	TANGO2	CSRP3	LEMD2	JUP	DES	DNAJC19	DSG2	DSP	LDLR	SCN2B	SGCD	HCN4	NOS1AP	SEMA3A	MRPL12	PTEN	TOR1A	APOB	DPP6	PTPN22	BUD23	MYL2	CRLF1	SLMAP	SYNE1	BAZ1B	SLC4A3	ELN	MYBPC3	CASQ2	RAB3GAP2	AKT1	TRPM4	CLCF1	RANGRF	ABCG5	RBM20	DSC2	ABCG8	EIF4H	KCND3	TTC26	FLNC	GTF2IRD2	LIMK1	ACADVL	TGFB3	ALG10B	TMEM270	SNTA1	ABCA12	SCN1B	TBX5	PGM1	PPA2	SFTPB	P4HA2	TSPYL1	SFTPC	KCNJ8	PCSK9	FHOD3
HP_ABNORMAL_PERICARDIUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PERICARDIUM_MORPHOLOGY	DNASE1L3	NOD2	FCGR2B	LMNA	ABCC6	GATA6	STAT4	MAF	IL10	PRG4	HLA-B	FAT4	TLR4	CCBE1	ADAMTS3	FCGR2A	AEBP1	TSC1	DNASE1	HLA-DRB1	CALCRL	C4A	TSC2	IFIH1	IL12A	IL6	IL23R	CLCNKB	MYRF	MEFV	ALG9	LETM1	GBA1	TCTN2	PMM2	PTPN22	IRF4	UQCRFS1	ITK	PRKAG2	ACADVL	CTLA4	HBA2	ERAP1	MYBPC3	PTPN14	PRTN3	IRAK1	TREX1	CCR1	EPHB4	HBA1	ABCC9	IFNGR1	HLA-DPB1	MCM10	SMAD4	MIF	KLRC4	SPP1	DPH5	RNU7-1	TRIM37	PLVAP	LYST	BLTP1	HLA-DPA1	LACC1	TNFRSF1A	UBAC2	SCARB2	P4HA2	CDH23	IL12A-AS1	EIF2AK4	ENPP1	FAS	SLC12A3
HP_PERICARDIAL_EFFUSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERICARDIAL_EFFUSION	DNASE1L3	PLVAP	CLCNKB	LMNA	ABCC6	LYST	MYRF	PTPN14	BLTP1	STAT4	IRAK1	ALG9	LETM1	GBA1	EPHB4	CCBE1	TCTN2	PMM2	SCARB2	ABCC9	UQCRFS1	ADAMTS3	ITK	CDH23	FAT4	AEBP1	MCM10	TSC1	CALCRL	PRKAG2	ACADVL	SMAD4	EIF2AK4	MAF	SPP1	ENPP1	TSC2	IFIH1	HLA-DRB1	DPH5	RNU7-1	MYBPC3	SLC12A3
HP_SUDDEN_DEATH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUDDEN_DEATH	MYL3	DNAJC30	WIPF1	LMNA	KCNQ1	NUP155	VPS37D	CSRP3	ACAD9	TMEM43	LDLRAP1	MYOZ2	LEMD2	CALM1	JUP	DES	DNAJC19	CAV3	PKP2	CALM2	DSG2	UBR7	LDB3	DTNA	EMD	KCNH2	DSP	SYNE2	ANK2	TECRL	METTL27	LDLR	RYR2	ENPP1	SGCD	ELN	TNNI3	NOS1AP	MYLK	SCN10A	CACNA1C	FHL1	PTEN	SCN5A	TNNT2	HLA-DRB1	TSPYL1	GTF2IRD1	APOB	TAB2	MYH7	DPP6	CALM3	PTPN22	BUD23	MYL2	KCNE2	CRLF1	SOST	SYNE1	GUF1	BAZ1B	SCN8A	EYA4	SLC4A3	MYBPC3	CASQ2	AKT1	BCL7B	CLCF1	KCNE1	CPT1A	MLXIPL	PRKAG2	ABCG5	HLA-B	GPD1L	NCF1	RBM20	ABCC6	DSC2	SMAD3	MYLK2	SCN4B	ABCG8	EIF4H	FLNC	GTF2IRD2	LIMK1	SCN1A	FKBP6	IKZF1	ACADVL	CPLX1	HRAS	RFC2	TGFB3	ALG10B	AKAP9	WAS	TBL2	TMEM270	SNTA1	TTN	ABCA12	MYH6	GTF2I	TBX5	TRDN	PGM1	HADHA	KCNJ2	CLIP2	PPA2	P4HA2	TNNC1	SHQ1	TPM1	GNAI2	CACNA2D1	PCSK9	LRP6	KCNJ5	STX1A	FHOD3
HP_PERICARDITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERICARDITIS	NOD2	FCGR2B	PRTN3	MAF	IL10	PRG4	TREX1	CCR1	HLA-B	HBA1	IFNGR1	MEFV	TLR4	HLA-DPB1	FCGR2A	DNASE1	HLA-DRB1	C4A	MIF	KLRC4	PTPN22	IL12A	RNU7-1	IL6	STAT4	IL23R	CTLA4	HLA-DPA1	LACC1	TNFRSF1A	UBAC2	PMM2	IRF4	P4HA2	IL12A-AS1	HBA2	FAS	ERAP1
HP_ABNORMAL_TRICUSPID_VALVE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TRICUSPID_VALVE_MORPHOLOGY	CCDC22	PCGF2	MYCN	SEC24C	GATA6	RPS6KA3	MYH7	CHST14	FOXF1	FREM1	COL5A2	IDS	FLNA	YY1	FBN1	JPH2	HIRA	MAP3K7	TBX1	TPM1	NDUFB11	KRAS	NXN	PLD1	GATA1	MYRF	COX7B	WASHC5	GP1BB	ARVCF	FGFR1	CHD7	JMJD1C	HCCS	NONO	AGGF1	RREB1	MMP21	COL1A1	COL5A1	COMT	UFD1	ROR2	TMEM260
HP_TRICUSPID_VALVE_PROLAPSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRICUSPID_VALVE_PROLAPSE	COL1A1	PCGF2	COL5A1	COX7B	NDUFB11	FBN1	KRAS	FGFR1	CHST14	FLNA	COL5A2	HCCS	PLD1
HP_ENDOCARDIAL_FIBROELASTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENDOCARDIAL_FIBROELASTOSIS	ALPK3	MCM10	IDUA	ACTN2	TAFAZZIN	GJA5	SLC22A5	CSRP3
HP_ABNORMAL_RIGHT_VENTRICLE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RIGHT_VENTRICLE_MORPHOLOGY	CDH2	TBX20	BTK	PLXND1	MAP3K20	RYR2	TLL1	GATA6	SREBF1	MYH7	BMPR2	TTN	LAMB2	TPM3	FOXF1	MYH6	CITED2	GPC4	VIPAS39	JUP	DSC2	LTBP4	COLQ	ALPK3	TGFB1	PKP2	NOTCH1	IPO8	DSG2	TMEM43	MYL2	DYSF	NKX2-5	FNIP1	NPHP3	DSP	NKX2-6	VPS33B	ACTC1	SGCG	TPM2	ITGA7	SFTPB	PLD1	TGFB3	GPC3	SELENON	CTNNA3	CFTR	ACTA1	NONO	ATP13A3	SLC25A12	SCN5A	MMP21	TRAPPC11	HACD1	ALG9	STAMBP	PIGN	FIBP	FLNA	FCGR2A	GATA4	GTPBP3
HP_THIRD_DEGREE_ATRIOVENTRICULAR_BLOCK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIRD_DEGREE_ATRIOVENTRICULAR_BLOCK	SCN5A	PRKG2	MT-TL1	RRM2B	DES	MYL4	LMNA	MT-ATP8	PTPN11	DEF6	GRIN1
HP_ABNORMAL_LEFT_VENTRICLE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LEFT_VENTRICLE_MORPHOLOGY	GATA5	MYL3	BUB3	SLC25A4	GATA6	MYPN	CEP57	MT-CYB	MT-ND6	MYOZ2	ADAM17	RIT1	C1QBP	AIP	GNB2	HDAC4	LDB3	TRMT10C	TTN	DTNA	MT-TC	SDHB	PSEN1	COQ9	TCAP	ABCA1	TNNI3	MT-TL1	CAV3	RRM2B	COQ7	ARL6	MT-CO3	GLA	SMAD6	FOCAD	KCNJ5	CHST3	PSEN2	MT-TF	SCO1	TNNT2	ZIC3	COG1	DMD	BUB1B	COX16	SCN5A	MYH7	FKRP	TPK1	SPEG	TWNK	MYL2	MYH6	EGFR	LZTR1	POMT2	NOTCH1	POLG	GYS1	SLC25A24	ACTC1	SDHD	MT-CO1	BIN1	CCDC28B	ZNF687	SVIL	GNPTAB	MT-TQ	SMAD3	ADAMTS19	HSD11B2	MTX2	WDPCP	TRIP13	JPH2	MOGS	HCN4	NKX2-5	SDHAF1	CACNA1D	MT-TV	MYLK2	MT-CO2	RYR1	MEN1	SDHA	ABCC9	MT-ND5	TLL1	GLRX5	PTPN11	TTR	ATP6AP2	MT-ND1	NEXN	ACTN2	SYT2	WDR35	PLN	MT-TK	RNU7-1	ZNF462	HADHB	CLN3	POMT1	TAB2	IFIH1	MT-TS2	POLG2	HADHA	NONO	MT-TW	B3GAT3	COL1A2	ALG9	BBS1	ESPN	GAA	FGFR1	ARSK	EPG5	NAXD	BUB1	GTPBP3
HP_LEFT_VENTRICULAR_HYPERTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEFT_VENTRICULAR_HYPERTROPHY	MYL3	SLC25A4	MYPN	MT-CYB	MT-ND6	MYOZ2	ADAM17	RIT1	C1QBP	AIP	LDB3	TRMT10C	TTN	DTNA	MT-TC	SDHB	PSEN1	COQ9	TCAP	ABCA1	TNNI3	MT-TL1	RRM2B	COQ7	ARL6	MT-CO3	GLA	KCNJ5	CHST3	PSEN2	MT-TF	SCO1	TNNT2	COG1	DMD	COX16	SCN5A	FKRP	TPK1	SPEG	TWNK	MYL2	MYH6	EGFR	LZTR1	POMT2	POLG	GYS1	SLC25A24	ACTC1	SDHD	MT-CO1	BIN1	CCDC28B	ZNF687	SVIL	GNPTAB	MT-TQ	SMAD3	HSD11B2	MTX2	JPH2	MOGS	HCN4	NKX2-5	SDHAF1	CACNA1D	MT-TV	MT-CO2	RYR1	MEN1	SDHA	ABCC9	MT-ND5	TLL1	GLRX5	TTR	ATP6AP2	MT-ND1	NEXN	ACTN2	WDR35	PLN	MT-TK	RNU7-1	ZNF462	HADHB	CLN3	POMT1	MT-TS2	POLG2	HADHA	NONO	MT-TW	B3GAT3	COL1A2	BBS1	ESPN	GAA	ARSK	EPG5	NAXD	GTPBP3
HP_ABNORMAL_CARDIAC_VENTRICLE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CARDIAC_VENTRICLE_MORPHOLOGY	PMS1	LRP2	MGP	MKKS	NDUFA9	VPS37D	YARS1	RARB	GPC4	LTBP4	ZNF699	HYLS1	MEOX1	SMARCB1	RTL1	PTPN11	SETD2	NDUFS7	MT-TC	CAMK2A	SGCG	SMAD2	TNNI3	NDUFA13	COX7B	MSH2	GP1BB	ADA2	KCNJ5	ATP6V1E1	COX15	ZIC3	TAPT1	CPT2	RPS28	ZEB2	WAC	COX16	PEX16	NDUFA2	STAMBP	FANCC	HNRNPR	ARID1B	POLG	SGCD	RPS29	CREBBP	STAG1	LZTR1	RYR2	BMPR2	RPL35A	MYH7	TRIP13	JPH2	NIPA1	PSMD12	WNT4	DPH1	VIPAS39	MEN1	GLRX5	PIGQ	MACF1	PPP2R5D	MYL2	GATA6	LONP1	FKBP6	NPHP3	VPS33B	ACTC1	LBR	DPH5	RNU7-1	IGBP1	ARID1A	TAB2	BAP1	TRIO	ATN1	CHD7	MT-TS2	MT-TW	NEK9	PRDM13	ARX	SPEN	TRRAP	ERBB3	NKX2-5	SIK1	GATA4	FBN1	PPP1CB	FTO	GATA5	RAD21	LETM1	MYCN	SLC25A4	FOXF1	RPL26	IGF1R	UBR7	GRM7	HDAC4	MEIS2	KMT2D	CRB2	SALL1	SELENON	UBE3B	CFTR	EFTUD2	NOTCH3	SLC19A3	RSPO2	PDHA1	TGDS	GPC3	CDKL5	FANCI	CCDC32	FKRP	PAH	TPK1	SPEG	WDR37	NDUFS8	TBX1	CTU2	TCIRG1	VAC14	ASXL1	BAZ1B	MEG3	RPS15A	CCDC28B	ZNF687	CCDC22	DVL3	BTK	CACNA1D	SEC24C	NOTCH2	MOGS	MICU1	SDHAF1	FLI1	ABCG8	EIF4H	CKAP2L	TMEM53	DYRK1A	NXN	ITGA7	GJA8	SOX11	ZNF462	POMT1	COQ4	HYMAI	SDHD	NR2F2	MASP1	HADHA	MED23	DYNC2I1	NKX2-1	FADD	CITED2	BUB1	TMEM260	PRKACB	BRD4	CDH2	PPM1D	PLXND1	MGAT2	KAT5	B3GALT6	NF1	TGFB1	MAP3K7	LDB3	CTBP1	GATA1	METTL27	XYLT1	SATB1	SYNE1	GLA	FGFRL1	NDUFB7	SLC25A22	BUB1B	TNFRSF11A	SHOC2	TRAPPC11	TP63	XYLT2	GNAO1	CHD4	PEX1	FOXC2	DGCR6	KRAS	LEMD2	GTF2H5	JAG1	PRKAG2	OTUD6B	ACADVL	AIP	DLL4	CHMP1A	PEX6	BCL7B	SMAD3	HSD11B2	IFT81	ECHS1	MAPKAPK5	PEX19	NCF1	HOXA13	TKT	MLH1	CRKL	MT-TV	EFEMP2	FOXRED1	RERE	SMC1A	EOGT	DLK1	NKX2-6	SMAD4	ARCN1	RAC1	TNNT2	KAT6B	PEX13	PORCN	CLN3	HRAS	UMPS	TGFB3	SOS1	IFT172	MED12	PIK3R2	IFIH1	SMG8	MLXIPL	TAOK1	DDX11	SMARCC2	PIGN	TTC7A	PHGDH	GDF3	THOC6	FGFR1	MAPK1	RPL18	PQBP1	DSG1	AGL	STRA6	ARSK	RNU4ATAC	NDUFA11	RPL31	KLHL41	MYL3	HNRNPK	FIBP	NDUFS2	ERCC3	ELN	DGCR2	MYPN	SCN1B	ATRX	PLAGL1	ADAM17	C1QBP	LIPT1	PEX11B	COLQ	HIRA	RPS19	DYSF	GLI3	TFAP2B	SDHB	PEX12	PSEN1	COQ9	LDLR	SETD5	PLD1	ABCA1	SOX4	EVC2	MT-TL1	SKIC2	WASHC5	DNMT3A	INSR	ARVCF	FOCAD	PUF60	NSMCE2	RPL10	MT-TF	COG1	SMN1	RAI1	GLI1	CARS1	BUD23	NFIX	NUP107	NEK1	LRP5	MYH6	EPCAM	RPS20	CCDC174	SLC25A24	NUP188	PEX2	SIX3	MYBPC3	MAP2K1	GNPTAB	SH3PXD2B	RNF113A	CWC27	GJA5	SIX6	LAMB2	PMS2	TPM3	UBE2A	NSD1	GPR101	MT-CO2	BCOR	CCND2	ALG8	TTC26	SDHA	TBC1D24	RPS17	DEF6	ATP6AP2	NAA10	SYT2	DPF2	SFTPB	MLH3	WDR35	JAM3	NEUROD2	JMJD1C	B3GAT3	CIROP	SURF1	PEX26	BBS1	NONO	SNRPB	PCSK9	TBCK	WBP11	ARSL	NDE1	MT-ND6	RIT1	MYOCD	NOTCH1	IPO8	IDH1	TUBG1	TRMT10C	CHRM3	RPS24	PIGL	COX6B1	RRM2B	SPECC1L	COQ7	DHCR7	RPS27	SLC12A2	ATP6V0A2	SMARCA4	SOS2	SCO1	TET3	DMD	RREB1	KAT6A	NKAP	MMP21	SCN2A	BMP2	ODAD3	POMT2	CD96	SLC29A3	WT1	FCGR2A	ADAMTS10	NDUFA12	MT-CO1	BIN1	NDUFAF2	NDUFC2	MTX2	TXNDC15	DST	GDF6	TBX3	MT-ND5	FNIP1	C2CD3	DMXL2	TPM2	MT-TK	GTF2E2	SKIC3	APC2	RPL5	NDUFA10	MMP14	CLIP2	HACD1	SLC37A4	FIG4	KANSL1	NDUFS3	GPC6	SMARCD1	MID1	ROR2	LMNA	ENPP1	MT-CYB	NDUFA4	HCCS	SVBP	TBX5	CPLX1	BUB3	SREBF1	CSRP3	CSGALNACT1	SPTBN1	ALKBH8	FANCB	NAA20	PKP2	GNB2	CDC45	DSG2	NSD2	NDUFV1	FBLN5	ALG12	MAP2K2	DOHH	PACS1	TASP1	EXOC2	DGCR8	SMAD6	MPLKIP	NOD2	GYG1	PEX5	APOB	CHST3	NIPA2	TCTN3	SCN5A	AKT3	MSH6	GMPPB	B3GLCT	CDK13	COMT	FLNA	AFF4	ANKRD11	SVIL	PET100	KIFBP	CDK8	FLNB	POLA1	EP300	ABCG5	CASK	MYLK2	WDR26	LARS2	BMPR1A	TTR	SALL4	SEMA4A	SMARCE1	GDF1	PIGP	BRAF	BRF1	ACTA1	COL1A2	NDUFS4	NDUFAF5	KDM3B	RPS7	AMER1	SHANK3	NDUFV2	TBX20	MAP3K20	GJA1	ABCC6	LDLRAP1	MYOZ2	DDX59	RPS26	ALDH18A1	PLCH1	TTN	LTBP1	DTNA	RPL3L	KDM6A	ECE1	TCAP	SLC25A20	SMG9	CAV3	HDAC8	JUP	PI4KA	MT-CO3	MYRF	MIR17HG	PSMC1	LTBP2	PSEN2	FAN1	PEX3	GTF2IRD1	NPPA	CEP57	UQCRFS1	TWNK	TMEM94	RPL15	SLC19A2	PKD1L1	CACNA1C	RPL11	FBN2	TIAM1	MTFMT	TRAIP	SEC31A	SLC2A10	ADAMTS19	TLL1	RPL27	WDPCP	TRIM8	VPS13B	ACVR2B	NDUFB11	CEP290	CANT1	EXT2	ALPK3	TMEM43	TALDO1	UBR1	ARHGAP31	ACTN2	TXNL4A	RFC2	ABL1	RPS10	PIK3CA	TBL2	PPFIBP1	FGFR2	RRAS2	GTF2I	FHL1	YY1AP1	SLC25A12	CCBE1	ZMYM2	ALDH1A2	GAA	EPG5	STX1A	GTPBP3	KCNA1	DNAJC30	ESCO2	ESS2	NDUFS1	BCR	NIPBL	TNNC1	KAT8	STAG2	BSCL2	RAB23	DSP	TACO1	RBM8A	CTNNA3	ARL6	TARS1	TSR2	SOX2	SMC3	PEX10	ATP13A3	ZBTB7A	SF3B2	COG6	ZMPSTE24	NHLRC2	EGFR	MMP2	SF3B4	GYS1	PIEZO2	ARID2	MT-TQ	ERCC2	SATB2	TGFBR2	SON	PEX14	PALB2	NDUFAF6	HCN4	DPH2	DSC2	RYR1	ABCC9	GTF2IRD2	LIMK1	MT-ND1	MED13L	NEXN	GRIN1	PLN	HADHB	TMEM270	RPL35	NSDHL	POLG2	PGM1	OTUD5	DYNC2LI1	MED25	ALG9	ESPN	CALM3	NAXD	DNAJC19	NODAL	UFD1	EVC	PRKACA	PNKP
HP_VENTRICULAR_HYPERTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENTRICULAR_HYPERTROPHY	MYL3	PLXND1	ABCC6	SLC25A4	MYPN	FOXF1	MT-CYB	MT-ND6	MYOZ2	ADAM17	GPC4	RIT1	C1QBP	MYL2	TNNC1	LTBP4	AIP	COLQ	NOTCH1	IPO8	LDB3	TRMT10C	TTN	DYSF	DTNA	MT-TC	SDHB	PSEN1	COQ9	SGCG	TCAP	SLC25A20	ABCA1	TNNI3	ALG12	MT-TL1	SMAD2	COX6B1	SELENON	RRM2B	COQ7	ARL6	MT-CO3	COX7B	GLA	MYRF	NSMCE2	KCNJ5	CHST3	PSEN2	MT-TF	SCO1	ATP6V1E1	NOD2	TNNT2	GYG1	CPT2	COG1	DMD	ATP13A3	WAC	COX16	SCN5A	ZMPSTE24	FKRP	TPK1	NHLRC2	SPEG	TWNK	STAMBP	MYH6	EGFR	LZTR1	POMT2	PRKAG2	POLG	GYS1	SLC25A24	ACTC1	SDHD	MT-CO1	SGCD	MYBPC3	BIN1	CCDC28B	ZNF687	SVIL	GNPTAB	MT-TQ	SLC2A10	SMAD3	CACNA1D	MYH7	HSD11B2	MTX2	BMPR2	LAMB2	JPH2	MOGS	HCN4	NKX2-5	GPR101	SDHAF1	VIPAS39	MT-TV	MT-CO2	RYR1	MEN1	ALPK3	SDHA	ABCC9	MT-ND5	TLL1	GLRX5	TALDO1	DEF6	TTR	ATP6AP2	NPHP3	MT-ND1	NEXN	ACTN2	NKX2-6	VPS33B	SFTPB	GPC3	WDR35	PLN	MT-TK	RNU7-1	LMNA	ZNF462	HADHB	RPL5	CLN3	POMT1	FHL1	MT-TS2	POLG2	HADHA	NONO	MT-TW	B3GAT3	COL1A2	SLC25A12	BBS1	PIGN	ESPN	GAA	AGL	ARSK	EPG5	NAXD	NDUFA11	ENPP1	GTPBP3
HP_MITRAL_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MITRAL_STENOSIS	ZMPSTE24	LZTR1	NOTCH1	GBA1	FBN1	ARSB	ABCC6	NKX2-5	NOTCH2	MCTP2	HAAO	XYLT2	UBE2A	SYT2	ZIC3	PLD1	ADAMTSL2	GJA1	LMNA	ZNF148	XYLT1	CHST3
HP_HIGH_OUTPUT_CONGESTIVE_HEART_FAILURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_OUTPUT_CONGESTIVE_HEART_FAILURE	HBB	RASA1	ENG	CACNA1S	EPHB4	RYR1
HP_RESTRICTIVE_CARDIOMYOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESTRICTIVE_CARDIOMYOPATHY	PIGT	MYL3	CENPE	ANK1	KIF20A	ABCC6	TTR	SPTB	FLNA	EPB42	XYLT2	MCM10	SLC4A1	DES	ACTC1	PDGFRA	ENPP1	MYL2	TNNI3	XYLT1	SPTA1
HP_PROGRESSIVE_HEARING_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_HEARING_IMPAIRMENT	NLRP3	MT-TQ	SP7	ALMS1	SERPINB6	MT-CYB	MT-ND6	GJB6	MCM2	NOTCH2NLC	MT-TV	MT-CO2	MPZL2	MT-ND5	P2RX2	MPZ	TIMM8A	ACTG1	OPA1	WFS1	MT-TC	MT-ND1	ARSG	DMXL2	MT-TK	MT-TL1	POU3F4	TWNK	FGF3	MT-CO3	MYO6	GJB2	SYNE4	MIR96	MT-TS2	GIPC1	MYH14	MT-TF	MT-TW	SCD5	IARS2	SLC30A9	TPRN	GRXCR1	PEX11B	GFER	GSDME	ATP1A3	GATA3	LARS2	TBC1D24	POLR3GL	MYO3A	MT-CO1
HP_ABNORMALITY_OF_THE_PANCREAS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PANCREAS	PMS1	PAX4	MT-ND4	SPINK1	YARS1	NSD2	TP53	BRCA1	RPGRIP1	GPC4	LBR	SERPINA1	CASZ1	B9D2	APC	CNOT1	TLR4	CYBC1	TERT	PDX1	CDKN1B	IFT140	APPL1	DZIP1L	ASXL1	CTNS	CASR	HSPG2	MSH2	GNAS	MT-TL1	TF	HMGCL	TERF2IP	BRCA2	MEN1	PARN	GCGR	COX4I2	XPNPEP3	SLC16A1	CEACAM6	DIS3L2	PNPLA2	TCTN1	KCNJ11	PCCB	HNF1B	FCGR2A	MITF	NTHL1	BLK	ABCB4	BCKDHA	PRTN3	PTEN	ABCC8	CEP290	RAD51	GCLC	PRDM16	HLA-DPB1	GATA6	NPHP3	IKZF1	CPA1	CTC1	RNU7-1	SKIC3	CCND1	BAP1	MT-ND6	HFE	PDPN	SMARCAL1	CDC73	EDNRA	SLC37A4	NPM1	PCCA	SLC11A1	CDKN2A	RECQL4	MT-TS2	ARX	MMUT	PKD1	MSH6	FOXF1	EFL1	IL12A-AS1	MIF	MT-TQ	LMNA	GNA11	ENPP1	SRP54	MT-ND5	MYCN	GCK	FAH	GABRD	NDUFS3	HLA-B	NR1H4	WRAP53	TCTN3	KRAS	KCNN4	CDKN1C	NEUROD1	OFD1	CFTR	CLCNKB	TMEM67	SBDS	MYC	FLI1	MADD	PALB2	GPC3	CTRC	AAGAB	TCF4	SLC26A9	MRE11	PTRH2	MMP23B	FLNB	SLC6A14	SLC7A7	RMRP	VHL	PKHD1	RARB	RABL3	ATP6AP1	DNAJB11	LHX1	LMF1	PRSS1	CHEK2	DBT	BMPR1A	HAMP	SEMA4A	G6PC1	MT-TF	WDR19	KLRC4	SLC29A3	CDKN1A	RNF43	RFX6	TGFB1	UQCRH	HLA-DPA1	PUF60	BARD1	DYNC2I1	PRKAR1A	STUB1	CEACAM3	PTF1A	STX1A	KCNQ1OT1	GPIHBP1	EIF2AK3	STRA6	RPGRIP1L	TERC	SLC12A3	HNF4A	CBS	PRSS2	ABCC6	STK11	IL10	PKD2	PDGFRB	NUTM1	TXNDC15	HJV	TCTN2	FANCD2	TMEM107	FGFR2	SLC9A3	SPEN	TKFC	SKI	STAT4	SIK3	MT-TH	CLCA4	NHP2	FAN1	INS	BCKDHB	NOP10	APOC2	UCP2	GLIS3	TINF2	JAG1	CDKN2B	RTEL1	CTLA4	CP	ACD	ERAP1	ABCB11	GPR35	MLH1	CEL	IFNGR1	RERE	LUZP1	UBR1	PPARG	TMEM237	TMEM216	DCTN4	YY1	USB1	NADK2	PIK3CA	SLC25A13	IGF2	RAD51D	KCNAB2	B9D1	BRD4	PALLD	CDKN2C	KCNQ1	PRKCSH	NBN	CSPP1	MAFA	ALMS1	SETBP1	STAT3	BSCL2	CAV1	TELO2	INSR	IFT172	MT-CO1	ATP8B1	PRKCZ	ACTG2	C4A	TRMT5	GANAB	IL12A	MGMT	RBM8A	KLF11	IL23R	DKC1	LRP5	APOE	FOCAD	MEFV	RAD51C	NSMCE2	CIDEC	PRIM1	DNAJC21	MDM2	BRIP1	NEK1	NFS1	EPCAM	RPS20	MKS1	AP2S1	TYMS	ALG5	HMOX1	TMEM231	MC1R	GSTM3	TGFBR2	NOTCH3	MST1	AGPAT2	PMS2	SMAD4	WT1	CCR1	MT-CO2	UBE4B	PDE11A	CDK4	RAD50	COL14A1	MLH3	LPL	SEMA4D	HNF1A	SEC63	BICC1	UBAC2	POT1	CC2D2A	MT-CO3	PTPN22	HOXD13	MT-TW	EWSR1	ALG9	FAS	MT-ND1
HP_PANCREATITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATITIS	MT-ND4	CBS	SPINK1	PRSS2	MT-ND5	ALMS1	LMNA	IL10	CTRC	NDUFS3	TGFB1	PRSS1	HLA-B	BSCL2	TLR4	CYBC1	CAV1	IFT172	SLC25A13	MT-CO1	CASR	ATP8B1	ACTG2	C4A	TKFC	SLC37A4	IL12A	STAT4	IL23R	CFTR	FLI1	MT-TH	GNAS	MT-TL1	APOE	MEFV	NSMCE2	CIDEC	HMGCL	PNPLA2	BCKDHB	TCF4	APOC2	CDC73	XPNPEP3	NFS1	GCGR	AP2S1	SLC7A7	PCCB	FCGR2A	CTLA4	ERAP1	GPR35	ABCB4	LMF1	BCKDHA	MST1	AGPAT2	PRTN3	CCR1	MT-CO2	PDE11A	IFNGR1	DBT	HLA-DPB1	IKZF1	CPA1	PPARG	G6PC1	MT-TF	KLRC4	NADK2	RNU7-1	LPL	MT-ND6	SEMA4D	UQCRH	SMARCAL1	HLA-DPA1	PCCA	UBAC2	MT-TS2	STUB1	MMUT	MT-CO3	PTPN22	MT-TW	IL12A-AS1	GPIHBP1	MT-TQ	GNA11	FAS	MT-ND1
HP_ANNULAR_PANCREAS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANNULAR_PANCREAS	HSPG2	RFX6	MYCN	SIK3	PDPN	FOXF1	RERE	GABRD	FLI1	KCNAB2	UBE4B	CASZ1	RECQL4	PRDM16	FANCD2	LUZP1	TELO2	MMP23B	PRKCZ	SPEN	SETBP1	STRA6	ASXL1	SKI	RARB
HP_ACUTE_PANCREATITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_PANCREATITIS	NSMCE2	HMGCL	BSCL2	LMNA	CYBC1	RNU7-1	AGPAT2	APOE
HP_PANCREATIC_CYSTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATIC_CYSTS	OFD1	CSPP1	RBM8A	DNAJB11	TMEM67	BICC1	RPGRIP1	CCND1	PKD2	CEP290	WDR19	TXNDC15	B9D1	B9D2	IFT140	TCTN2	VHL	GLIS3	XPNPEP3	CC2D2A	PKD1	PKHD1	MKS1	TCTN3	TMEM107	NPHP3	TMEM237	TCTN1	TMEM216	ALG9	GANAB	ALG5	DZIP1L	TMEM231	RPGRIP1L
HP_PHIMOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHIMOSIS	SIN3A	FERMT1	ERMARD	CENPT	DKC1	NSD1	CTCF	SETD2	APC2	PQBP1
HP_NASAL_CONGESTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NASAL_CONGESTION	DNAH9	ZMYND10	PIK3CG	SPAG1	DNAJB13	TTC12	DNAAF11	ARSL	GJA1	LRRC56	RPGR	FGFR1	DNAI1	GAS8	DNAH11	CFAP221	DNAAF4	CARMIL2	OFD1	RSPH4A	RSPH3	NEK10	DNAL1	HYDIN	STK36	SPEF2	CFAP298	ODAD4	RSPH1	DDC	CFAP300	DNAAF6	CCDC103	ANKH	MCIDAS	CCNO	RSPH9	GNAS	GAS2L2	DNAAF2	CCDC65	DNAAF3	DBH	CPT2	DNAAF5	DNAAF1	ODAD3	FOXJ1	CCDC40	NME8	DRC1	CCDC39	ODAD1	ODAD2	DNAI2	DNAH1	DNAH5
HP_ABNORMALITY_OF_THE_SPLEEN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_SPLEEN	FOXP3	SLC4A1	NLRP3	ARSB	YARS1	TRNT1	B2M	BRCA1	RPGRIP1	GPC4	LBR	USP53	LIPA	LTBP4	GNE	HBA1	ZNF699	HYLS1	B9D2	RSPH3	RNASEH2C	GPI	TERT	ADAMTS3	RMRP	ADAR	HFE	GNPTAB	FCHO1	AP3D1	TP53	THPO	IFIH1	NPC2	TCIRG1	CR2	ASXL1	JAK2	CCDC115	GP1BA	STEAP3	NAGLU	RASGRP1	GP1BB	TBXAS1	IL1RN	RAC2	PTPN11	ZIC3	ZEB2	ATP7B	SLC39A4	APOA1	NFKB1	RINT1	HBG2	BCR	VPS33A	HAVCR2	STIM1	RNASEH2B	DNAH1	MAGT1	CREBBP	ABCB11	CFC1	DDRGK1	HSD17B4	LRBA	SLC25A13	GBA1	LYZ	CFAP410	PIEZO1	DNAI1	CFAP221	PTPN2	NEK8	ERCC8	MKS1	NLRP12	NPHP3	XIAP	RNU7-1	COG1	MCIDAS	KCNN4	OTC	GAS2L2	HBB	SGSH	IL2RA	MMUT	HLA-DRB1	DCDC2	USB1	MPL	DHCR24	CD19	IL12A-AS1	CAVIN1	MAN2B1	JAK3	PIK3CD	SOX10	CASP10	LETM1	MYCN	TNFSF11	FAH	PKLR	FOXF1	PTPRC	GABRD	NCF1	ADA	OFD1	RAG1	TCTN3	FUCA1	MPIG6B	KRAS	ATP6V1B2	NBEAL2	PKHD1	SAMD9	RHCE	COX10	CFTR	ZAP70	GPC3	CSF3R	CCDC32	DNAAF1	SP110	LSM11	UMPS	TBX1	IDUA	TLR8	HEXB	RFWD3	SLC7A7	TNFRSF11A	COG7	HBA2	BMP2	CCND1	NCKAP1L	DGUOK	BTNL2	SEC24C	LZTR1	NOTCH2	WDR1	RPGRIP1L	MOGS	MICU1	PRKCD	SMPD1	RPGR	NDE1	GLB1	CD28	NLRC4	SNX10	SH2D1A	FERMT3	KLRC4	AIRE	KLF1	TCF3	CCDC103	PSAP	PHKG2	ANK1	CCNO	KCNH1	JAK1	MYD88	PIGM	CASR	FGFR2	APOE	PEPD	HK1	CCDC39	FAS	GPIHBP1	NCF4	STRA6	DNASE1L3	UNC13D	DNAJB13	EPB41	HMOX1	GATA2	IL10	STAT1	PEX7	RPSA	IRF8	TGFB1	TCTN2	MEG3	ERCC6	CTBP1	RRAS2	INPP5E	SPTA1	IL6	STAT4	DCLRE1C	NDUFS4	FGFRL1	LMNA	PLEKHM1	EPB42	CPOX	CCDC47	RAG2	TNFRSF13B	G6PC3	TNFRSF1B	OSTM1	PHKA2	MRAS	IRF4	UROS	GLIS3	FOXJ1	NME8	TPP2	SNX14	AP3B1	ODAD2	ERAP1	DLL4	STX11	RAB23	GPR35	HSD3B7	RAB27A	IDS	LAT	DNAH11	ICOS	RSPH4A	CDKN2A	NEK10	IFNGR1	HYDIN	NCF2	FAM111A	SPEF2	PPARG	TMEM216	FGA	CARD11	FASLG	RABL3	ABCB4	INPPL1	CYP7B1	IFT172	DNAAF2	MED12	RNU4ATAC	SAMD9L	B9D1	MNS1	NEU1	GSN	HGSNAT	TMEM67	ASAH1	LPIN2	TULP3	PSMB10	GAA	PALB2	B4GALT1	RNASEH2A	KPTN	HIRA	SLC29A3	SEC23B	G6PD	RHAG	PRKCZ	C4A	DZIP1L	ABCA1	SERPINA1	TET2	DLK1	SKIC2	CYBB	IL23R	BCL11A	ARVCF	FOCAD	MEFV	PTEN	ALG9	PALLD	TNFRSF4	RAF1	RELN	CTLA4	TYMS	DPM1	DNAH9	GCLC	KATNB1	NFKB2	AGPAT2	DNAAF11	CD27	ABCD3	CAV1	UBE4B	STAT3	TTC26	ORAI1	LEMD3	PPP2R3C	PIK3CA	ZNFX1	CBL	ADA2	DNASE2	SAMHD1	WDR35	ALAS2	CD81	GPD1	RIPK1	CD40LG	SLC2A1	JMJD1C	TNFRSF1A	CC2D2A	TNFSF12	SPTB	CALR	CDIN1	SH2B3	ODAD1	SC5D	GUSB	CTSK	CASZ1	PRF1	NOTCH1	MEGF8	TLR4	CYBC1	STK36	MVK	AKR1D1	IFT140	IL7R	CFAP300	CTNS	PIK3R1	HSPG2	GALE	CCDC65	RREB1	PARN	MMP21	IKZF3	RRAS	CLCN7	COX4I2	CD247	RIT1	PNPLA2	TCTN1	WT1	FCGR2A	DNAH5	SPAG1	SOCS1	CEP290	ZFYVE19	XK	SCYL1	ERBB3	PRDM16	AGA	CTC1	SKIC3	CA2	GATA1	PDPN	NPM1	FARSA	LACC1	DNAAF5	SCARB2	SLC37A4	CD3D	PHYH	CPLX1	ATRX	BMP6	F5	STXBP2	UROD	FGG	BRCA2	LYST	GAS8	NRAS	GNB2	HLA-B	WRAP53	CASP8	SRSF2	NSD2	EXOC2	BCL6	MYC	VPS45	PIGA	COG4	CENPF	TCF4	ODAD3	ITK	MMP23B	COMT	HJV	DNAI2	RARB	GIMAP5	AKT1	ATP6AP1	EP300	TTC12	SLC30A10	KIF3B	IFNG	CLPB	ATP8B1	MCM10	ABL1	GYPC	GDF1	BTD	DNAAF6	KCNN3	SMAD2	TRPV6	SOS1	ABCG8	CD70	TERC	PNP	RHD	ATM	ITCH	IARS1	SF3B1	KIT	COG5	TXNDC15	MYO5B	DNAAF4	IRF2BP2	CCBE1	TMEM107	SLCO2A1	FAT4	SPEN	ODAD4	SKI	WNT3	MYRF	HPGD	SUMF1	NHP2	CFAP45	OCLN	AFF4	GNS	NOP10	CYBA	CHD7	APOC2	PSMB9	TINF2	IL2RG	PDGFRA	RTEL1	CD3E	VPS13A	ALPK1	ACVR2B	NGLY1	ANKRD55	DHCR7	PSMB8	SYK	BACH2	LUZP1	TALDO1	CFAP298	TREX1	TMEM237	TNFRSF13C	RSPH1	RBCK1	GEMIN4	IL2RB	RSPH9	GALK1	CTSA	KCNAB2	MCM4	TFE3	FGB	PSMG2	PEX2	PHKB	SLC17A5	NOD2	ZMYND10	PIK3CG	CSPP1	BCL2	ESCO2	ALMS1	SETBP1	HAMP	RERE	LRRC56	OAS1	BSCL2	DNAL1	HMGA2	FMO3	PTPN22	IL12A	RBM8A	SOS2	ALDOA	DKC1	CDAN1	TPI1	CDON	DNAAF3	LIG4	SPRED2	NLRP1	PRIM1	COG6	NHLRC2	IL6ST	HBG1	CCDC40	RASA2	RUNX1	TWIST1	TMEM231	CASK	DYNC2LI1	MST1	GLRX5	SMAD4	CLDN1	CCR1	GBE1	NPC1	PSMB4	ALG1	PSTPIP1	LCAT	RTL1	MIF	MS4A1	TOM1	LPL	SEMA4D	VPS33B	BRAF	UBAC2	PIK3C2A	IKBKG	DRC1	NODAL	UFD1
HP_SPLENOMEGALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPLENOMEGALY	FOXP3	SLC4A1	NLRP3	EPB42	ARSB	CTSK	FAH	RASGRP1	YARS1	TRNT1	B2M	BRCA1	GPC4	LBR	TET2	IDS	USP53	IFNGR1	LIPA	MPL	GNE	HBA1	JAK2	ZNF699	RNASEH2A	PRF1	NOTCH1	PSAP	RNASEH2C	TMEM67	GPI	TLR4	CYBC1	TERT	ADAMTS3	RAB27A	RMRP	ADAR	HFE	GNPTAB	MVK	FCHO1	AKR1D1	AP3D1	TP53	IFT140	THPO	IL7R	IFIH1	NPC2	TCIRG1	CR2	DZIP1L	ASXL1	CTNS	CCDC115	PIK3R1	GP1BA	STEAP3	NAGLU	RAG1	GP1BB	GALE	TBXAS1	IL1RN	RAC2	ATP7B	SLC2A1	RREB1	PARN	SLC39A4	APOA1	IKZF3	CLCN7	COX4I2	CD247	NFKB1	CYBB	RINT1	HBG2	BCR	PNPLA2	VPS33A	DPM1	HAVCR2	FCGR2A	RNASEH2B	MAGT1	ABCB11	CALR	DDRGK1	HSD17B4	LRBA	SLC25A13	GBA1	LYZ	CFAP410	PIEZO1	SOCS1	PTPN2	ZFYVE19	XK	ERCC8	SCYL1	ERBB3	TBX1	MEFV	MKS1	NLRP12	NPHP3	AGA	XIAP	CTC1	RNU7-1	RHAG	SKIC3	NEU1	COG1	KCNN4	CD19	CA2	GATA1	OTC	ABCA1	ICOS	NPM1	FARSA	LACC1	HBB	SGSH	SCARB2	IL2RA	MMUT	HLA-DRB1	DCDC2	SLC37A4	CD3D	USB1	DHCR24	CC2D2A	IL12A-AS1	CAVIN1	MAN2B1	JAK3	IDUA	PIK3CD	PHYH	SOX10	ASAH1	CASP10	ATRX	BMP6	F5	TNFSF11	UNC13D	PKLR	PTPRC	STXBP2	UROD	NCF1	ADA	BRCA2	LYST	FGFR2	GNB2	HLA-B	WRAP53	CASP8	FUCA1	MPIG6B	KRAS	SRSF2	ATP6V1B2	NBEAL2	PKHD1	CPOX	FGA	RHCE	COX10	CFTR	BCL6	VPS45	PIGA	COG4	ZAP70	GPC3	TCF4	CSF3R	SP110	LSM11	UMPS	ITK	TLR8	HEXB	SLC7A7	TNFRSF11A	COG7	COMT	SH2B3	HBA2	HJV	BMP2	RAG2	GIMAP5	AKT1	CCND1	NCKAP1L	ATP6AP1	DGUOK	BTNL2	SEC24C	SLC30A10	NOTCH2	KIF3B	WDR1	RPGRIP1L	MOGS	MICU1	PRKCD	SMPD1	IFNG	SNX10	CLPB	GLB1	CD28	ATP8B1	NLRC4	SH2D1A	FERMT3	KLRC4	ABL1	KLF1	SLC29A3	TCF3	GYPC	PHKG2	ANK1	KCNH1	GUSB	JAK1	MYD88	PIGM	BTD	CASR	UROS	KCNN3	APOE	PTEN	PEPD	HK1	TRPV6	ABCG8	FAS	GPIHBP1	NCF4	CD70	TERC	DNASE1L3	PNP	RHD	ATM	ITCH	EPB41	IARS1	SF3B1	KIT	GATA2	CTLA4	LMNA	IL10	STAT1	COG5	PEX7	IRF8	MYO5B	TGFB1	IRF2BP2	PHKA2	MEG3	CCBE1	SLCO2A1	FAT4	ERCC6	INPP5E	TNFRSF1B	SPTA1	IL6	STAT4	DCLRE1C	NDUFS4	HPGD	PLEKHM1	SPTB	SUMF1	NHP2	CCDC47	TNFRSF13B	OCLN	G6PC3	AFF4	GNS	NOP10	OSTM1	CYBA	CHD7	APOC2	PSMB9	IRF4	GLIS3	TINF2	TPP2	SNX14	AP3B1	IL2RG	PDGFRA	RTEL1	CD3E	VPS13A	ALPK1	ERAP1	DLL4	STX11	GPR35	HSD3B7	NGLY1	ANKRD55	LAT	DHCR7	PSMB8	SYK	CDKN2A	BACH2	TALDO1	NCF2	TREX1	PPARG	TNFRSF13C	CARD11	RBCK1	FASLG	GEMIN4	RABL3	IL2RB	ABCB4	INPPL1	GALK1	CYP7B1	IFT172	MED12	CTSA	RNU4ATAC	MCM4	TFE3	SAMD9L	PSMG2	PEX2	PHKB	HGSNAT	LPIN2	TULP3	SLC17A5	NOD2	PIK3CG	PSMB10	BCL2	KPTN	ALMS1	HAMP	GAA	PALB2	B4GALT1	OAS1	HIRA	BSCL2	SEC23B	G6PD	FMO3	C4A	PTPN22	SERPINA1	IL12A	RBM8A	DLK1	SKIC2	IL23R	ALDOA	BCL11A	DKC1	ARVCF	CDAN1	TPI1	FOCAD	ALG9	PALLD	LIG4	NLRP1	COG6	NHLRC2	IL6ST	HBG1	TNFRSF4	RUNX1	TYMS	CASK	DYNC2LI1	GCLC	NFKB2	MST1	GLRX5	AGPAT2	CD27	SMAD4	CLDN1	CCR1	ABCD3	CAV1	STAT3	GBE1	NPC1	TTC26	PSMB4	ALG1	PSTPIP1	LCAT	PIK3CA	RTL1	ZNFX1	CBL	MIF	ADA2	DNASE2	SAMHD1	MS4A1	WDR35	ALAS2	CD81	TOM1	LPL	GPD1	RIPK1	SEMA4D	CD40LG	TNFSF12	VPS33B	JMJD1C	BRAF	TNFRSF1A	UBAC2	PIK3C2A	NRAS	IKBKG	CDIN1	UFD1	SC5D
HP_ACCESSORY_SPLEEN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACCESSORY_SPLEEN	CREBBP	CSPP1	ESCO2	ATP6AP1	EXOC2	TMEM67	EP300	LETM1	MYCN	CPLX1	MYRF	YARS1	FGFRL1	CENPF	RPGRIP1	CEP290	PRIM1	LTBP4	TXNDC15	HYLS1	B9D1	B9D2	TCTN2	CC2D2A	MKS1	TCTN3	WT1	TMEM107	PPP2R3C	TMEM237	CTBP1	TCTN1	TMEM216	NSD2	TMEM231	RPGRIP1L
HP_POLYSPLENIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYSPLENIA	DNAH9	ZMYND10	RAB23	CFC1	SPAG1	DNAJB13	MYCN	TTC12	YARS1	GPC4	ACVR2B	DNAAF11	LRRC56	RPGR	DNAI1	GAS8	DNAH11	CFAP221	DNAAF4	OFD1	RSPH4A	MEGF8	RSPH3	NEK10	DNAL1	HYDIN	STK36	SPEF2	CFAP298	ODAD4	RSPH1	GPC3	WDR35	CFAP300	NPHP3	CCDC103	GDF1	MCIDAS	CCNO	RSPH9	GAS2L2	DNAAF2	CCDC65	CDON	DNAAF3	CFAP45	DNAAF6	ZIC3	CCDC39	DNAAF5	MMP21	DNAAF1	ODAD3	FOXJ1	CCDC40	NME8	DRC1	RFWD3	ODAD1	ODAD2	DNAI2	DNAH1	DNAH5
HP_SINGLE_VENTRICLE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SINGLE_VENTRICLE	TXNDC15	STRA6	NSDHL	GDF1	ZIC3	PLD1	NODAL	SIX3	MAPKAPK5	CIROP
HP_VESTIBULAR_DYSFUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VESTIBULAR_DYSFUNCTION	SDHB	FXN	IRF2BP2	MT-TS2	RFC1	ADA2	CACNA1A	GATA2	GCDH	FIP1L1	COL3A1	IL10	VHL	TET2	SLC26A4	FGF14	COCH	KCNJ10	TLR4	DNMT3A	TIMM8A	CALM1	PCDH15	TECRL	THPO	NARS2	RET	STAT4	STAT5B	ARSG	POLG	GLA	CLRN1	FH	ESPN	HLA-DRB1	DBH	SH2B3	AIP	DKK1	MAX	CDH23	FOXI1	CACNB4	GCGR	GJB2	PDGFB	PRKAR1A	CIB2	ERAP1	SCN5A	CALM2	USH1C	NAGA	JAK2	CTNNB1	IFNGR1	MYO6	USH1G	BRAF	SLC1A3	ATXN3	MPL	CCND1	MYO7A	NF1	PRRT2	GJB6	NKX2-5	JAG1	MED12	CNNM2	RARA	SDHD	NOP56	BCOR	SDHA	RYR1	IL12A-AS1	ATP1A2	PML	TRPM4	ALMS1	SLC12A3	SLC39A14	JUP	CLIC5	NABP1	MVK	ZBTB16	TMEM127	HLA-B	MDH2	HARS1	C4A	IL12A	RYR2	IL23R	CLCNKB	FLI1	CACNA1G	PTPRQ	MEFV	GJB3	SDHC	NPM1	SLC25A11	GYG1	EPAS1	STAT3	NPPA	KIF1B	PTPN22	TPK1	MYL2	TWNK	OTOGL	SCN2A	CASQ2	CALM3	MEN1	CCR1	SOX6	CEP78	KLRC4	MYD88	KCNA1	TNFRSF1A	UBAC2	EPOR	NUMA1	NF2	P4HA2	SCN1B	VSX1	TBL1XR1	FAS	DLST	TRDN	SDHAF2	SCN1A
HP_VESTIBULAR_HYPOFUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VESTIBULAR_HYPOFUNCTION	ARSG	USH1G	MT-TS2	PCDH15	USH1C	CLRN1	HARS1	CDH23	ESPN	CEP78	MYO7A	CIB2	OTOGL
HP_HIGH_FREQUENCY_SENSORINEURAL_HEARING_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_FREQUENCY_SENSORINEURAL_HEARING_IMPAIRMENT	ZMPSTE24	FGF3	FKBP14	LMNA	CEP250	ASAH1
HP_PES_CAVUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PES_CAVUS	NLRP3	FGF17	HSPD1	CUL4B	PI4KA	SETX	GJB2	HSPB1	ZBTB20	MFN2	GAN	FLNA	GBF1	PMP22	SPG11	NEFL	PNPT1	RTN2	NIPA1	MORC2	PEX10	SYNE1	DDHD1	SPTLC1	PLEKHG5	AAAS	SH3TC2	SORD	SLC25A46	KLC2	MMP2	IDUA	MECP2	BSCL2	CCDC141	REEP1	NDRG1	TWNK	SYT2	BIN1	KBTBD13	NRCAM	FLRT1	KPNA3	PMPCA	H3-3B	CPT1C	SLC6A8	ATP13A2	DUSP6	RUSC2	NSUN2	WASHC5	FDX2	PRPS1	FGD4	MAFB	KNSTRN	MYL2	WARS1	TPM2	TRIM2	GDAP1	LBR	ANO10	PRX	VCP	HK1	GRIN2A	DDHD2	NDNF	CYP7B1	PHYH	MME	ANOS1	SPRY4	TDP1	MYPN	ABHD12	GOSR2	MTTP	PEX2	IMPDH2	HACD1	HDAC8	CHCHD10	MRE11	LRSAM1	MAP1B	CTDP1	BICD2	SPEN	ACTA1	GJB1	VWA1	KARS1	VAMP1	COA7	REPS1	GBA2	SOX10	PCGF2	OPA3	MYH7	OPA1	COL13A1	EZH2	DNAJC6	GARS1	TTPA	MPZ	MPV17	LAS1L	AARS1	IQSEC2	ATP6V1B2	VPS13D	SLC25A1	CHAT	HEXB	SACS	FXN	ERLIN2	SPEG	GJC2	B3GLCT	NR4A2	INF2	SELENON	HSPB8	CAV3	COQ8A	FGF14	ALDH18A1	REEP2	PDK3	ATL1	GTF2E2	UBAP1	APTX	FEZF1	WDR26	DNM1L	IL17RD	SIGMAR1	GBA1	MAP3K7	KIF5A	HARS1	DHTKD1	ITGA7	ALS2	CAPN1	CARS1	POLG	PDXK	SPART	HADHA	B4GALNT1	KCNN3	PROKR2	MCM3AP	COX6A1	TPM3	DNAJB2	SYNJ1	SLC33A1	RSPRY1	WDR11	HSD17B4	PNKP	MAP3K20	NF1	FGF8	PEX7	DHH	NSD1	C19orf12	FBLN5	TTN	XRCC4	EGR2	SEMA3A	DCC	PMP2	MSTO1	COASY	UCHL1	ATP7A	NEFH	BAG3	PEX5	NEB	PODXL	FBXO38	GNS	RAB7A	ERCC5	NARS1	SLC5A7	VPS13A	ATP1A3	SPAST	KY	CHMP1A	SBF2	CNTNAP2	IDS	DYNC1H1	SUZ12	DNM2	RAB11B	SAMD9L	FITM2	PIK3CD	ATG7	TH	TRPV4	ZFYVE26	MYMX	LITAF	WDR73	FBN1	NFIX	FHL1	IFIH1	TACR3	FLRT3	ERCC4	GLB1	PIGN	SPG7	DMXL2	PQBP1	MYO9A	KLHL41	VPS41	PROK2	CHD7	SLC18A3	IBA57	LMNA	DYSF	ATP1A1	GNB4	LIPE	KCNH1	HESX1	L1CAM	HS6ST1	EIF2AK2	PDHA1	GCH1	IFRD1	SETBP1	EED	SNAP25	PYROXD1	PCNA	PLP1	DCAF8	MTRFR	LONP1	OGDHL	TRAPPC11	GALC	FAR1	CYP27A1	UBE2A	HINT1	AGRN	KANSL1	RYR1	FGFR1	USP9X	LAMP2	AIFM1	CHP1	HADHB	EMILIN1	RET	TSPOAP1	MED25	JAG1	ADPRS	KIF1B	GMPPA
HP_TALIPES_EQUINOVARUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TALIPES_EQUINOVARUS	IGHMBP2	CHRM3	KAT6B	HSPG2	GPC4	GRIA2	SNCA	ZNF699	GAN	HYLS1	MEGF8	ADGRG6	IPO8	CANT1	SETD2	COQ8A	SALL4	EHMT1	GNPTAB	PLOD1	NSD2	EDEM3	ERBB2	PEX26	MFSD2A	ATP6V0A2	GP1BB	TWIST2	SLC26A2	MYH8	DYNC2H1	LIMS2	ATP6V1E1	ZIC3	TAF8	TBC1D23	B4GALT7	RREB1	NALCN	NKAP	ALG3	SKI	RBM10	UNC80	TAF1	RINT1	DYM	LAMA5	GDF5	TP63	COL6A2	BIN1	BMPR1B	ALG12	CREBBP	TNNI2	REEP1	NADSYN1	HSD17B4	ERGIC1	CHRNG	CHN1	DST	GLE1	PIEZO2	RUSC2	FGD4	KIDINS220	NEK8	SCYL1	TBX1	VPS33B	TGFB2	MYL2	TPM2	TRIM2	HRAS	HNRNPK	APC2	KDM5C	JPH1	COG1	BAP1	POLR3A	FBXO7	HK1	BRPF1	TMTC3	CHD7	TCTN2	ATP6V1A	MED13L	NEK9	RECQL4	MTTP	IMPDH2	HACD1	USP8	EVC2	ZC4H2	CTDP1	BICD2	MYBPC1	VWA1	MAFB	B3GALT6	ZNF148	H1-4	SATB2	MAN2B1	STAC3	COL6A3	SOX9	FLNB	LETM1	CPLX1	DHX16	EBP	MSX1	SPTBN1	PIGB	MYO9A	GDAP1	EZH2	KIF1A	STXBP1	PRUNE1	B9D1	GPX4	GSC	COL3A1	DSE	FBLN5	HSPB1	SAMD9	NSD1	DONSON	SCARF2	REV3L	IL6ST	AP4S1	TGDS	GPC3	ERCC5	CHST3	TCTN3	TBX15	MTRFR	MYT1L	SPEG	PI4KA	ATRX	NR4A2	SELENON	MTMR2	CTU2	PLXND1	COMT	POLR3GL	SF3B4	RYR1	FUZ	EP300	SEC24C	DCHS1	SMAD3	RSPO2	SLC25A19	VANGL1	MYH3	ARSI	ZSWIM6	MCTP2	C12orf57	FLNA	COG4	HBA2	ITGA7	GUSB	DPYS	ALDH18A1	ACTA1	TRIP11	IRF6	TGFBR2	SYNE1	COL5A1	ALG8	PMP22	ENTPD1	AMER1	FKTN	SMARCAL1	TGFBR1	PPP3CA	COL6A1	ADAT3	MAP3K20	HBA1	CLCN3	EIF2S3	POLRMT	COL5A2	MYMX	MEGF10	EXOC6B	GLI3	MYMK	KMT5B	FOXG1	MYPN	TTN	ATAD1	CTBP1	AMMECR1	AP4B1	TRPV4	FGFRL1	SMOC1	COL1A2	PEX5	CCDC47	TBX4	NDE1	DES	SMARCA2	PEX1	FANCL	GZF1	SNX14	OTUD6B	MYL11	FBN2	MAPK1	ECEL1	KY	CHMP1A	FAT4	PAICS	EEF1A2	TRAIP	PSAT1	RAB23	SEC31A	LMBRD1	MPZ	COL12A1	GTPBP2	ZFYVE27	SUZ12	SH3TC2	LMX1B	RAB11B	SLC6A9	CTH	FKBP10	ARHGAP31	TH	CC2D2A	COG8	SLC35D1	TMCO1	TGFB3	WDR73	BLTP1	MUSK	IHH	IFIH1	BMPER	PIGG	NECTIN1	TFE3	CCBE1	COL1A1	ALDH1A2	NKX3-2	CEP55	PEX2	NELFA	EVC	LIFR	FKBP14	ELN	SETBP1	PTRH2	TNNT3	SNRPN	RIPK4	COLQ	NDRG1	HIRA	WNT7A	AP4E1	EIF4A3	SLC35A2	GLB1	CACNA1C	VRK1	RBM8A	POR	L1CAM	HACE1	MAN2C1	ARVCF	TOR1A	ORC1	ALG14	SYT1	RAI1	TAFAZZIN	GCH1	EED	SBF2	PITX1	PLEKHG5	ITGA8	SHROOM4	TWIST1	LGI4	RAB3GAP2	PLOD2	SH3PXD2B	LAMB2	CHST14	TPM3	UBE2A	BCOR	PLOD3	ANK1	CRIPT	COL2A1	AP4M1	CRLF1	TSPOAP1	ABHD16A	JMJD1C	OTUD5	B3GAT3	NT5C2	GAD1	ORC6	DHCR24	OFD1	ALG9	SMS	MYH7	FIBP	UFD1	SC5D	MAP3K7
HP_PES_PLANUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PES_PLANUS	PROKR2	SCN1A	FGF17	IARS2	FANCB	VPS37D	VLDLR	CUL4B	CUL7	FOXE3	UBE2T	DEAF1	IPO8	ASXL3	EIF3F	CANT1	TPM2	SETD2	TGFB2	PLOD1	RYR1	MORC2	STX1B	SMAD2	SCN9A	TCF4	SH3TC2	ATP6V0A2	MAT2A	ATP6V1E1	TET3	MMP2	FBN1	ZEB2	TGFBR2	XYLT2	B4GALT7	CCDC141	KAT6A	SKI	GABRD	NDRG1	DYM	HSPG2	SYT2	PALB2	MED12L	HK1	CREBBP	NPR3	MLXIPL	ALMS1	BRCA2	H3-3B	MYH7	LOX	RPS6KA3	DUSP6	AP1G1	TGFBR1	RIN2	STAG2	PACS1	NDUFAF6	C12orf57	FKBP6	AGA	FLII	RAD51C	TBX4	HNRNPK	DPH5	APC2	HEY2	PRX	MAD2L2	CHD8	NDNF	FANCA	ANOS1	SPRY4	RAI1	ATR	MPZ	WAC	GNB1	PDE4D	CLIP2	FMR1	BRIP1	HDAC8	AEBP1	CHCHD10	SLC37A4	BICD2	SPEN	RFWD3	SCN1B	ZNF148	SLC1A3	SOX9	CCNK	SLC9A7	CIC	CSGALNACT1	SLC16A2	DHX30	SPRTN	NAA20	GARS1	LAS1L	COL2A1	IQSEC2	AP4B1	ATP6V1B2	ATP7A	SPRED2	FBLN5	GABRG2	SELENON	BRCA1	CDK10	NSD1	CHST3	PYCR1	ATRX	COL5A1	VPS13B	ATP1A2	BAZ1B	ELN	EP300	NDST1	WASF1	PHF8	PIEZO2	FLI1	PIGG	SMAD3	FEZF1	FLNB	EIF4H	H4C11	XYLT1	IL17RD	ERCC4	SALL4	MFAP5	FLNA	GJA8	SIL1	PMPCA	SLC29A3	RLIM	TLK2	COL1A2	IFITM5	PRKG1	PRR12	AP4E1	PEX6	BRF1	NONO	HCN1	SLC5A7	PUF60	KCNN3	TRIO	GABRA1	LMNA	RSPRY1	DACT1	WDR11	FANCC	BSCL2	CNOT3	EIF5A	MGAT2	CFL2	COL9A3	PRDM5	BGN	B3GALT6	AFF3	FGF8	SOX5	HIVEP2	ALDH18A1	FOXG1	FGD1	DPM3	EGR2	SEMA3A	DCC	AMMECR1	METTL27	UCHL1	SLC26A2	DPH1	ACTA2	TRPV4	MTOR	TGFB1	TONSL	ATP1A3	SLC39A13	GTF2IRD1	RAB7A	EXOC6B	SMARCA2	DMD	PMM2	GRIA3	GRIN2B	MAPK1	ZDHHC9	GRIN2D	GMPPB	SCN2A	SBF2	MAB21L2	BCL7B	MAPRE2	SEC23A	TTN	NCF1	FKBP14	COL12A1	CRKL	FBXO11	SBF1	EXT2	PCDH19	KDELR2	LMX1B	GDF6	ALG2	AHCY	RFC2	ABL1	FANCD2	ADGRV1	TBL2	TMCO1	UBE2A	TRPS1	TGFB3	ZNF469	GTF2I	TACR3	FANCI	TAOK1	FLRT3	MED12	TFE3	BPTF	COL1A1	XRCC2	STX1A	HEATR3	DNAJC30	MYPN	FIBP	SLC10A7	PROK2	GATA4	CDC42BPB	GFPT1	CHD7	COL5A2	ASPH	BCR	SCO2	SNRPN	MYLK	H4C5	CACNA1C	KCNH1	AP4M1	HESX1	CEP152	HS6ST1	RAB33B	CLCN4	METTL23	GDF11	FANCF	GDF5	HERC1	TRMT1	BUD23	BRWD3	GAN	PYROXD1	SMAD4	HNRNPH2	DPAGT1	RAB3GAP2	CLDN11	CWC27	GJA5	TBL1XR1	FANCM	CADM3	SLX4	CACNA1A	KANSL1	FGFR1	SARS1	GTF2IRD2	LIMK1	FANCL	USP9X	ATP6AP2	DLG4	ARX	MYH11	CRLF1	COMP	TMEM270	COPB1	EMILIN1	SOX10	ALG14	B3GAT3	FANCE	PMP22	FANCG	AP4S1	GORAB	SALL1	RAD51	TPM3	PRKG2	CTSC
HP_HAMMERTOE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAMMERTOE	COA7	NRCAM	PHYH	SPART	HSD17B4	MPZ	NEFL	GARS1	PEX7	DHCR7	MPV17	BCOR	GBF1	GDAP1	SH3TC2	AARS1	SIGMAR1	PMP22	LMNA	EGR2	AEBP1	HARS1	CHP1	TRPV4	GNB4	PMP2	VCP	SLC35A3	PRX	PDXK	PLEKHG5	ESCO2	FBN1	MORC2	MYH8	SACS	TOR1A	BMPER	BSCL2	RAB7A	KAT6A	REEP1	SBF2	KIF1B	CHCHD10	INF2	LRSAM1	NDRG1	MFN2	SYT2	DCAF8
HP_BROAD_FOOT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_FOOT	NLRP3	LMBR1	ARL6	RPL10	GPC4	AIP	CDC42BPB	TONSL	PHF6	MASP1	EZH2	FGD1	TBL1XR1	SUZ12	AIFM1	GPC3	DYNC1H1	FGFR1	NSD1	PDE4D	GDF6	XYLT1	EED	GPR101	POGZ	BBS1	B3GLCT	MSL3	DYM	PTH1R	POR	BMPR1B	SLC26A2	CCDC28B
HP_TOE_SYNDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TOE_SYNDACTYLY	BRD4	HOXD13	MEF2C	GABRA3	FANCB	LMBR1	RPL10	WDR19	IL11RA	CTCF	MAP3K20	FGFR2	IFT43	WNT10B	UBE2T	DEAF1	SHH	FGFR1	GNE	ZNF699	KCNJ5	CDH3	MEGF8	BMP4	FRAS1	BCOR	SETD2	STAG1	SATB1	TMEM231	SLC12A2	HDAC8	DHCR7	GLI3	FBXW11	MYRF	SIK3	MIR17HG	SLC39A8	SMOC1	MYH8	LIG4	H4C9	SHMT2	GJA1	PIK3CA	TTC21B	FGF16	TP63	PDE6D	SMC1A	BMS1	PHIP	CD96	OTUD6B	BHLHA9	FREM2	KCNJ2	PALB2	MYCN	UBA2	FLNA	TWIST2	RBPJ	CREBBP	POLR3A	PLEC	MRPS28	MAB21L2	RAB23	DYNC2I2	IFT172	MAPRE2	BRCA2	RBBP8	DYNC2I1	PSMD12	NSUN2	FGFR3	AP1G1	CRKL	RALA	IQSEC2	SMO	NECTIN1	FGF10	BBS7	EN1	TBX22	ARHGAP31	DYRK1A	FLII	MAN1B1	RAD51C	SMAD4	TXNL4A	ARCN1	FANCD2	DDX6	APC2	UBE2A	PORCN	TRIO	MAD2L2	FANCA	SOX5	FANCI	RAI1	IRF6	DDX11	PRKD1	ALDH1A2	BRIP1	EBP	FIG4	PHGDH	MAPK1	CEP55	FGF9	CEP120	TRRAP	RFWD3	XRCC2	ROR2	SC5D	DYNC2H1	SVBP	RAD21	GNA11	SLC12A6	NOG	CSGALNACT1	CAMTA1	DLL4	CUL4B	KIF7	BCR	NIPBL	DYNC2LI1	CDC45	KCTD1	WNT7A	RIPK4	TELO2	MEIS2	SALL4	TFAP2B	CACNA1C	TRMT5	SETD5	SALL1	NEK9	CNOT2	BRCA1	H3-3A	TWIST1	NSD1	ITGB4	SCARF2	BMP2	SMC3	GPC3	FANCF	PIGY	HDAC4	FBLN1	SYT1	TBX15	LRP4	CKAP2L	SF3B4	CERT1	MECP2	KMT2B	POLR3GL	ARL6IP6	CPLANE1	PSAT1	ZMIZ1	CLCF1	GPC4	GRIP1	EP300	FANCM	FLI1	GDF5	SLX4	B3GLCT	TTI2	ERCC4	FANCL	IFT140	MCTP2	SCNM1	RHOA	NXN	TCTN3	NECTIN4	NEDD4L	WLS	ESCO2	BMPR1B	SIN3A	NSDHL	TBR1	SMARCAD1	FANCE	PUF60	FANCG	ATP6V1B2	MED25	SMAD2	EFNB1	APC	IFT80	WDPCP	CCNQ	FDFT1	ADNP	HEPHL1	RAD51	SHANK3	TBCK	DACT1	FANCC
HP_ACHILLES_TENDON_CONTRACTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACHILLES_TENDON_CONTRACTURE	ADAT3	SGCA	CRPPA	FKRP	MYOT	ACTA1	TMEM43	ABCC9	POMT1	NSUN2	NGLY1	HINT1	FKTN	SLC39A14	TTN	LMNA	ZC4H2	OPA1	PLEC	COL6A2	EMD	SLC12A6	SYNE2	SGCG	HRAS	ALS2	DMD	FHL1	ABHD12	GNS	PTRH2	SLC25A4	COL6A3	LARGE1	LMX1B	BICD2	COL6A1	PYROXD1	GJB1	SYNE1	COL12A1	MT-TE	KY	JAG2
HP_TALIPES_EQUINOVALGUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TALIPES_EQUINOVALGUS	FLNB	PTRH2	ESCO2	GDF5	CLTCL1	LMX1B	CHST3	ABHD16A	TNNT3	OTUD5	B3GAT3	B4GALT7	ATAD3A
HP_SHORT_FOOT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_FOOT	BMPR1B	BRD4	PPM1D	SPART	CTSK	GDF5	WDR19	FBXL4	HTT	CUL4B	SNRPN	CDKL5	DLK1	GPC4	MKRN3	FGFR1	HDAC6	RTL1	CASZ1	COL11A1	KCNJ5	MAP3K7	COL2A1	FGD1	DYNC2I1	SPEN	MBD5	WDR35	SKI	SATB1	MECP2	FBN1	MAGEL2	HDAC8	HSPG2	INPPL1	TONSL	CCDC47	TRIP11	H4C3	TBL1XR1	LIG4	WDR81	TTC21B	TRPS1	IFT80	POC1A	SMC1A	HNRNPR	FAM50A	FGFR2	WNT7A	KCNJ2	DYNC2I2	LMBR1	IFT172	GJA1	DYNC2H1	SATB2	BGN	GABBR2	NOG	TBCE	FBXO11	PRDM16	LUZP1	BPNT2	KIF5C	KDM5C	UBE2A	COL3A1	PDPN	TUBB3	IHH	KCNAB2	CCBE1	LTBP3	RECQL4	HERC2	ZMYM2	PIGN	CEP120	TRRAP	NDN	ADAMTSL2	OCA2	SLC26A2	NPAP1	RAD21	MEG3	NSUN2	BMP2	KDM4B	SNORD115-1	NGLY1	RERE	DYNC2LI1	GABRD	DYNC1H1	PWRN1	LAS1L	GALNT2	IGF1R	TELO2	SNORD116-1	PWAR1	PRKCZ	CAMK2G	CHSY1	ARL6	SMC3	COG1	SLC35C1	GPC3	HDAC4	CENPE	B3GLCT	USP7	CERT1	MMP23B	MAPK8IP3	CCDC28B	SON	SHOX	NTNG1	RMRP	UBE4B	NIPBL	HUWE1	MSL3	USP9X	IFT140	PIGL	DYRK1A	RNF2	SIN3A	MASP1	RNU4ATAC	FGFR3	BBS1	SIM1	PTH1R	FMR1
HP_BILATERAL_TALIPES_EQUINOVARUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_TALIPES_EQUINOVARUS	PSAT1	SOX9	MFSD2A	SH3PXD2B	SYNE1	SATB2	CLCN3	MAN2C1	CHD7	ABHD16A	UBE2A	ZIC3	SNRPN	GDF5	PRUNE1	RSPO2	SYT1	DHCR24	VANGL1	GDAP1	PIEZO2	MYT1L	EBP	PLOD3	PITX1	PI4KA	SLC26A2	FANCL	GLB1	CTU2	DSE	MAPK1	BMPR1B	B3GALT6	TWIST1	SLC35D1	MAN2B1	COL3A1
HP_ABNORMALITY_OF_TOE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_TOE	MKKS	GABRA3	ODC1	VPS37D	LRP4	IL11RA	CTCF	CUL4B	HS2ST1	IFT43	HOXD13	CPLANE1	RPGRIP1	LMNA	GPC4	LBR	MFN2	LTBP4	GNE	ZNF699	HYLS1	GBF1	B9D2	EP300	BMP4	FRAS1	RMRP	SETD2	PRKAR1A	TCF12	NSD2	SLC35A3	ZMPSTE24	FBXW11	COX7B	SH3TC2	GP1BB	MORC2	SLC39A8	MYH8	KCNN3	BSCL2	ZEB2	XYLT2	B4GALT7	DOCK6	COL6A1	DYRK1A	TMEM237	PCNT	CSPP1	HNRNPR	RPGRIP1L	ZNF407	BHLHA9	KCNJ2	PALB2	GDF5	PTH1R	TWIST2	TP63	CREBBP	NRCAM	POLR3A	NPR3	TOPORS	BRCA2	DVL1	HSD17B4	NOTCH1	COL6A2	NOG	PSMD12	FGFR3	WNK1	MAP3K20	PRG4	TMEM218	FGF10	BBS7	INTS8	PIGQ	PPP2R5D	MKS1	TCF20	BPNT2	C12orf57	FKBP6	NPHP3	CC2D2A	FLII	GATA6	HSPG2	PRX	TRIO	TRPV4	MAD2L2	ATN1	SOX5	RAI1	PMP22	IRF6	FLNA	SUFU	LARS1	BRIP1	AEBP1	EBP	FGF9	TRRAP	TMEM107	SIK1	EXT2	ALOXE3	FBN1	PTHLH	SRY	COA7	RAD21	GNA11	PCGF2	RHBDF2	LETM1	MYCN	CAMTA1	ERMARD	EZH2	GABRD	PIK3CA	NBAS	GALNT2	KCTD1	IQSEC2	RIPK4	IGF1R	GRM7	HDAC4	MEIS2	ABCC9	HNRNPK	TCTN3	COL3A1	ATP6V1B2	SALL1	TCF4	CIBAR1	ZNF423	WNT5A	RBPJ	GPC3	CDKL5	FBLN1	RAG1	NR4A2	CTU2	TRMT10A	VAC14	POLR3GL	ASXL1	BAZ1B	CCDC28B	ZMIZ1	SEC24C	MPZ	WASF1	NOTCH2	PHF6	NKX2-5	PIEZO2	FLI1	PIGG	EIF4H	CKAP2L	TTI2	SIGMAR1	IFT140	TCTN2	MCTP2	LZTFL1	RHOA	NXN	GJA8	DCPS	KCNH1	KIF1A	HNRNPH1	CCNQ	GARS1	FDFT1	ACVR1	FANCC	ESCO2	TMEM260	PRKACB	BMPR1B	BRD4	PNKP	LMBR1	GRIP1	NEK1	HBA1	KATNIP	FGFR2	PRDM5	B3GALT6	FGFR1	PEX7	NSD1	KCNJ5	GLI3	CDH3	KMT5B	IFT52	BCOR	EGR2	CTBP1	METTL27	MBD5	STAG1	SATB1	TBX1	DYNLT2B	ARMC9	FGFRL1	SMOC1	ZNF141	COL1A2	CCDC47	SLC25A22	MYOD1	CPT2	SHMT2	TMEM231	RAB7A	GNAO1	CPLX1	BMS1	OTUD6B	WNT7A	DLL4	RAB23	BCL7B	TRAIP	PPP1R21	NPR2	NCF1	HOXA13	FAM20C	MYH3	SUZ12	CRKL	INPP5E	PPP1R15B	SLC6A9	SMC1A	PIGV	EOGT	EN1	SIN3A	TBX22	ARX	TMEM216	SMAD4	ARCN1	PIGH	TMCO1	ERF	UBE2A	PORCN	TGFB3	NECTIN1	BBS2	SATB2	HDAC8	TPM2	KRAS	FANCI	BMPER	MLXIPL	RNU4ATAC	B9D1	DDX11	BPTF	DEAF1	MEG3	GNAS	PIGN	PHGDH	MAPK1	CEP55	CEP120	XRCC2	CENPE	ASAH1	FREM1	HEATR3	GBA1	ROR2	RAB3GAP2	FIBP	TBC1D24	NSUN2	GATA4	SCN1B	PLAA	SNRPN	BMPR1A	HPGD	RAB3GAP1	HIRA	SLC29A3	DLX5	EIF4A3	OFD1	TFAP2B	PRKCZ	SETBP1	CACNA1C	TOGARAM1	GNB4	SETD5	TAF6	ALDH6A1	PPP2R1A	SLC26A2	EVC2	NUP85	H3-3A	TWIST1	CHSY1	RAG2	ARVCF	PUF60	PTEN	RPL10	HARS1	SLC35C1	KCNJ8	FANCF	GLI1	BUD23	NFIX	NUP107	PITX1	SMO	CERT1	CEP104	KMT2B	DCAF8	NOD2	DPM1	MEF2C	AHI1	MIA3	CLCF1	CWC27	GJA5	TBL1XR1	TMEM138	LIFR	FANCM	PAPPA2	UBE4B	DLEC1	PLK4	NRAS	SMARCD2	NAA10	TBCK	NECTIN4	DDX59	TMEM67	NEUROD2	JMJD1C	B3GAT3	FANCE	FANCG	NKX2-6	EFNB1	FAM149B1	BBS1	HRAS	KIF1B	SMS	NONO	COL2A1	SC5D	PDZD8	FANCB	IFT122	ARSL	UBE2T	SHH	CASZ1	KIAA0753	MEGF8	IPO8	WIPI2	CANT1	SMARCE1	EXTL3	PIGL	DHCR7	TBC1D2B	PLEKHG5	ATP2B1	RSPRY1	CBY1	LIG4	MMP2	ALOX12B	MED12	GJA1	RREB1	KAT6A	REEP1	TTC21B	ALG3	SCN2A	BMP2	NDRG1	PHIP	CD96	TCTN1	FREM2	SYT2	UBA2	MTX2	CEP290	ALG12	PLEC	DYNC2I2	USP9X	DYNC2I1	CHRNG	TXNDC15	NEFL	NT5C2	AP1G1	YY1	RALA	PRDM16	PIGF	DMXL2	MAN1B1	RAD51C	TBX4	RETREG1	APC2	RTL1	KIF7	BBS9	ARID1A	ADAMTS2	VCP	PDPN	TGFBR2	CEP41	CDC42	PRKG2	FANCA	ATR	PIGO	COL6A3	CHST11	EVC	GATAD2B	PDE4D	IMPDH2	CLIP2	CHCHD10	FIG4	LRSAM1	RFWD3	NSDHL	PDE6D	DYNC2H1	PHYH	SVBP	SOX9	CSGALNACT1	DYNC2LI1	MPV17	ADA	AARS1	GPX4	CDC45	ACAN	HERC2	ATL3	GMNN	CNOT2	BRCA1	ITGB4	DNMT3A	SACS	ARHGAP31	SCARF2	PIGY	TBX15	PTRH2	B3GLCT	INF2	CCDC22	MECP2	MMP23B	COMT	MTM1	ELN	ERCC1	SVIL	AKT1	PSAT1	SLC16A2	IFT57	PHF8	ACTB	ERLIN2	ATRIP	CASK	USP7	XYLT1	HUWE1	ERCC4	SALL4	HBA2	RBBP8	SMARCA2	PDXK	PIGP	ABCA12	SMARCAD1	SMAD2	THOC6	CILK1	IFT80	KIAA0586	AMER1	SHANK3	DACT1	CEP152	EIF5A	SPART	ITCH	WDR19	WNT10B	SCN9A	IL7R	SLCO2A1	SPEN	PMP2	PIBF1	SKI	SLC12A2	ARID1B	MYRF	SIK3	MIR17HG	TBX3	SUMF1	GTF2IRD1	H4C9	CHD7	FGF16	COL11A2	TMEM94	IHH	IL2RG	MYL11	COL12A1	SOD1	DSP	IFT74	MRPS28	MAB21L2	IFT172	MAPRE2	WWOX	HSPB8	TRIM8	VPS13B	TRIP12	SPECC1L	FBXO11	PSMB8	GDAP1	MGP	GDF6	RAB11B	TLL1	LUZP1	TXNL4A	DLK1	RFC2	COG8	FANCD2	DDX6	TBL2	GATA1	ARL13B	ZNF469	BLTP1	GTF2I	FHL1	GHR	KCNAB2	FLNB	PRKD1	SIAH1	ZMYM2	ALDH1A2	NKX3-2	HSPB1	NELFA	CENPJ	STX1A	KCNA1	DNAJC30	JUP	ALMS1	SLC12A6	RERE	TNNT3	ASPH	BCR	NIPBL	KAT8	PCDHGC4	TELO2	KIAA0825	TRMT5	C2CD3	NEK9	ARL6	MAN2C1	CHST3	TOR1A	SMC3	DNM1L	EIF2AK3	SYT1	GCH1	EED	SBF2	INTS1	SF3B4	ZSWIM6	IRX5	ARL6IP6	PYCR2	ARL3	RNF6	DCLRE1C	SLX4	CPT1C	GTF2IRD2	LIMK1	FANCL	CHP1	SCNM1	GRIN1	NEDD4L	TMEM270	WLS	SHOX	TBR1	OTUD5	COX4I1	MED25	GNAI1	APC	WDPCP	ADNP	HEPHL1	RAD51	KAT6B	UFD1	PRKACA	KMT2A
HP_BROAD_METATARSAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_METATARSAL	TTC26	ABCC9	NEK1	CANT1	FGFR2	RAB33B	FGFR1	NPR2	MMP2	ADAMTS10	FBN1	PDE4D	PTH1R
HP_ANKLE_SWELLING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANKLE_SWELLING	MAFB	PTPN2	GJC2	PTPN22	IL2RA	FLT4	STAT4	IL2RB	ANKRD55	CD247
HP_NARROW_FOOT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_FOOT	TCF4	SCARF2	ADK	FBN1	PQBP1
HP_ABNORMAL_DELIVERY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DELIVERY	KLHL41	NPAP1	CYP11B1	CYP11A1	COL1A1	ARSB	IARS2	HACD1	CDC42BPB	CFL2	SNORD115-1	SPTBN1	OPA1	COL5A2	MKRN3	LTBP4	PWRN1	ZNF699	ITGA2	DTYMK	ACTA1	SNORD116-1	F8	TPM2	PWAR1	LMOD3	KLHL40	SATB1	CYP11B2	SHPK	SLC26A2	AGTPBP1	ITGA2B	ATP6V0A2	COL1A2	NEB	ORC1	CHST3	ASH1L	SLC6A5	SERPINH1	UQCC2	RMRP	FGFR3	PTPN23	PEX1	TAF1	LEMD2	PRKAG2	CD109	POR	GP1BB	MTM1	PLOD1	KBTBD13	POLR3A	EEF1A2	LDHA	CACNA1D	ITGB3	SON	DST	MYH3	DHCR7	MAGEL2	SCYL2	ERGIC1	TPM3	PIGA	MKS1	DEF6	COL25A1	ASXL3	COL3A1	PTCD3	F2	ADAMTS2	MED12	MYPN	RNU4ATAC	TAOK1	MCM4	RYR1	ZMPSTE24	HERC2	CRTAP	COL5A1	KDM3B	VARS1	GP1BA
HP_PREMATURE_RUPTURE_OF_MEMBRANES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_RUPTURE_OF_MEMBRANES	ZMPSTE24	SERPINH1	COL1A1	ATP6V0A2	FGFR3	ADAMTS2	COL5A1	DEF6	LEMD2	MED12	COL5A2	PLOD1	COL3A1
HP_HYDROPS_FETALIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYDROPS_FETALIS	SLC26A2	RASA1	GRIP1	NR1H4	PTH1R	ABCC6	MECOM	HSPG2	GATB	WNT7A	PKLR	FOXF1	COL2A1	LBR	FAS	UROD	FIG4	EPB41	COL11A1	RPS26	RPL26	CCBE1	DYNC2I1	ADAMTS3	FAT4	RPS24	CALCRL	GATA1	PLD1	SOX18	WDR35	QRSL1	RPS27	RASGRP1	TSR2	ADA2	CDAN1	KIAA0586	TRIP11	TAPT1	RPS28	BSND	AGGF1	GATC	PMM2	IFT80	UROS	NEK1	RPS19	FOXC2	RPL15	MGAT2	RPL11	VAC14	HBA2	COL1A2	RPS15A	RHD	RPS29	RPS20	MMACHC	DYNC2H1	RPL27	CARS2	RPL35A	HADHA	PIEZO1	PRKCD	EPHB4	HBA1	GBE1	ALPK3	CASP10	GLB1	PIGA	ALG1	NSF	TALDO1	GBA1	RPS17	NDUFB10	MCM10	RYR1	FLNB	AHCY	RPS10	KLF1	SLC35D1	FASLG	COL1A1	GYPC	TRIM37	KIF20A	GUSB	SPTA1	SCN5A	RPL35	MDFIC	DYNC2I2	NEK9	CTSA	ALG9	NEU1	FLT4	ALG8	RPS7	RPL18	HADHB	SPTB	ASAH1	RPL31	ENPP1	RPL5	SLC17A5
HP_NONIMMUNE_HYDROPS_FETALIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NONIMMUNE_HYDROPS_FETALIS	RPS29	RPS20	RASA1	SOX18	NR1H4	RPL27	CARS2	GATB	RPL35A	FOXF1	PIEZO1	LBR	UROD	EPHB4	ALPK3	RPS26	RPL26	ALG1	RPS17	NDUFB10	MCM10	RPS24	CALCRL	GATA1	PKLR	RPS10	SLC35D1	COL1A1	QRSL1	RPS27	TSR2	ADA2	SCN5A	RPL35	MDFIC	RPS28	CTSA	GATC	PMM2	UROS	RPS19	FOXC2	FLT4	RPL15	RPS7	RPL18	RPL11	GBA1	RPL31	COL1A2	RPS15A	RPL5
HP_FETAL_ASCITES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FETAL_ASCITES	NPC1	EIF5A	MDFIC	GNB2	NPC2	HSD17B4	RHD
HP_SMALL_NAIL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_NAIL	PIGN	EIF5A	EOGT	PPM1D	ODC1	VPS37D	ACTL6B	SHOC2	CENPT	NHP2	NSD1	HMGA2	COL11A1	NOTCH1	POP1	PIGY	MEG3	SMARCB1	FBXO28	SMARCE1	SETD2	FGFR2	PIGV	METTL27	CDH1	DLL4	EVC	ELN	COL11A2	DPH1	RSPO1	ARID1B	TCTN3	SMARCAD1	SMARCA4	GJB6	KCNN3	TBX4	NOP10	ZIC3	LIG4	GTF2IRD1	ALOX12B	MBTPS2	CPT2	DOCK6	KDM1A	ALG3	POC1A	STAMBP	TSPAN7	TWIST2	RBPJ	PPP1CB	BCL7B	MLXIPL	RPS6KA3	NCF1	HOXA13	SUZ12	TBX3	FGFR1	RERE	PPP2R5D	SCO2	PIGF	ARHGAP31	FKBP6	EED	COL7A1	RFC2	TBL2	APC2	HRAS	ARID1A	POLR3A	NEPRO	WDR73	GTF2I	KCNH1	BMPER	PIGO	SIAH1	SMARCC2	CLIP2	ZMYM2	BICRA	TFAP2A	SPEN	TRRAP	ATP6V1B2	SMARCD1	DPF2	ADAMTSL2	ALOXE3	STX1A	ROR2	FTO	DNAJC30	NSUN2	INPPL1	PIGB	PLAGL1	EZH2	RIPK4	TELO2	PLAG1	EVC2	SOX11	TMEM222	SOX4	ALG12	CWC27	WNT10A	DLK1	WASHC5	MSX1	MPLKIP	GPC3	GLI1	KIF15	BHLHA9	BUD23	KRT5	DNAJC21	PGAP2	SLC25A24	SHOX	TWIST1	BAZ1B	AFF4	CCDC22	ARID2	CDKN1C	FRAS1	GPC4	IHH	EIF4H	SHANK3	PIGW	CKAP2L	TBC1D24	GDF5	PIGA	GTF2IRD2	HUWE1	LIMK1	DHX37	PGAP3	MCTP2	SET	RTL1	NECTIN4	RLIM	TP63	ZNF462	TMEM270	PLEC	HYMAI	IGF2	WLS	PRR12	NSDHL	OTUD5	DYNC2LI1	OFD1	PTDSS1	SLC35D1	HEPHL1	CDIN1	RAF1	ERCC2	PRKACA	PIGL	IKBKG	PRKACB
HP_HYPERCONVEX_NAIL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERCONVEX_NAIL	TCF4	PLEC	PTDSS1	TP63	PIGV	LETM1	H3-3B	CPLX1	SETBP1	FGFRL1	RPS6KA3	SIN3A	CTBP1	ECE1	ORC1	NSD2	MBTPS2	RNU4ATAC	POMP	ARX	HPGD
HP_ANONYCHIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANONYCHIA	ITGB4	KCNA1	EOGT	TBC1D24	JUP	RBBP8	LRP4	TRIM8	SCN1B	ZBTB20	NOTCH1	KCNH1	COL7A1	COL17A1	MMP1	NOG	BCR	LAMC2	CRKL	LAMB3	RIPK4	CASK	GPC4	LMX1B	WNT7A	PIGQ	LAMA3	GRM7	PIGF	ARX	ACTG2	DMXL2	ATP2A2	KRT14	ATP6V1B2	DLL4	GRIN1	WNT10A	GRHL2	PLEC	ARID1B	ARID1A	PIGP	NEUROD2	RBPJ	ARHGAP31	KCNN3	SLC25A22	DOCK6	CDKL5	DSP	SCN2A	TP63	APC	GNAO1	GJB6	FIG4	MAPK1	PORCN	SLC25A24	SIK1	ROR2	PNKP	RSPO4
HP_SHORT_NAIL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_NAIL	ZMPSTE24	SOX9	FLNB	IFT122	ATP6V0A2	DPYD	NPR2	B3GALT6	GPC4	GPC3	NOTCH2	IFT43	LMNA	WNT10A
HP_HYPOPLASTIC_TOENAILS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_TOENAILS	PPP1CB	ARID2	EIF5A	DNAJC30	BCL7B	MLXIPL	NSUN2	ODC1	VPS37D	INPPL1	NCF1	HOXA13	SHOC2	EZH2	DPH1	SUZ12	TBX3	FGFR1	NSD1	COL11A1	EIF4H	SHANK3	NOTCH1	TBC1D24	RIPK4	GTF2IRD2	EVC2	SMARCB1	LIMK1	EOGT	TELO2	PPP2R5D	SCO2	PIGF	SMARCE1	FKBP6	SET	DPF2	METTL27	SOX11	RFC2	EVC	KDM1A	NECTIN4	SOX4	TBL2	TMEM270	HRAS	ARID1A	WLS	TCTN3	GTF2I	SMARCA4	TBX4	ZIC3	LIG4	GTF2IRD1	CPT2	DYNC2LI1	MSX1	GLI1	BUD23	SMARCC2	KRT5	CLIP2	EED	SLC35D1	ZMYM2	ARID1B	ATP6V1B2	SMARCD1	STX1A	BAZ1B	PRKACA	AFF4	DLL4	ELN	FTO	PRKACB
HP_ABSENT_TOENAIL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_TOENAIL	LRP4	GPC4	NOTCH1	JUP	WNT7A	APC	ARID1A	PIGF	COL7A1	MAPK1	PORCN	KCNH1	ATP6V1B2	KCNN3	KRT14	BCR	CRKL	DSP
HP_NAIL_PITS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NAIL_PITS	LPAR6	FOXN1	TERT	HLA-C	IKBKG	TP63	MSX1	TERC	TINF2
HP_HYPOPLASTIC_FINGERNAIL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_FINGERNAIL	CCDC22	PIGN	ARID2	EOGT	CDKN1C	NOTCH1	RPS6KA3	PLAGL1	KCNH1	CENPT	HMGA2	COL11A1	TBC1D24	SMARCB1	PLAG1	PIGF	FBXO28	FGFR2	DPF2	ATP6V1B2	SOX11	DLL4	SOX4	COL11A2	SMARCE1	ZNF462	PLEC	ARID1A	HYMAI	ARID1B	IGF2	WASHC5	SMARCA4	RBPJ	ARHGAP31	BMPER	PIGO	MBTPS2	KCNN3	MSX1	DOCK6	PTDSS1	SMARCC2	TFAP2A	SMARCD1	SHOX	ROR2	TWIST2	IKBKG
HP_ONYCHOGRYPOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ONYCHOGRYPOSIS	KRT6B	KRT16	KRT6A	DVL1	IKBKG	WNT5A	INSR	KLHL24	ADAM17	PLEC	GJB2	LMNA	FZD6	HPGD	KRT17	LORICRIN	KRT5	EGFR	ZSWIM6	ITGB4	COL7A1	WDR19	KRT14	DVL3	FZD2	CTSC	GJB6	TP63
HP_ONYCHOLYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ONYCHOLYSIS	DSG1	WNT10A	CDSN	UROD	LAMA3	KRT74	HLA-C	ITGA3	CAST	ITGB4	COL7A1	KRT85	GJB6	IFIH1	ATR	JUP	KRT14	FZD6	KRT5	HFE
HP_RIDGED_NAIL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIDGED_NAIL	LPAR6	FOXN1	FERMT1	WNT10A	ERCC3	ERCC2	TARS1	CTSK	RNF113A	IKBKG	MSX1	SLC39A4	DKC1	ATR	ATP2A2	EDAR	TINF2	MPLKIP	EFNB1	LMX1B	CARS1	TERT	EDARADD	GTF2H5	PORCN	TERC	KRT14	GTF2E2	GJA1
HP_FRAGILE_NAILS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRAGILE_NAILS	KRT14	LAMB3	ERCC3	ERCC2	TARS1	RNF113A	ATP6V0A2	DLX3	SIN3A	AP1B1	MSX1	DSP	FTL	GJA1	MPLKIP	EFNB1	CARS1	SLURP1	PRKD1	TRPS1	COL7A1	GTF2H5	SIN3B	SMARCD2	HEPHL1	LMNA	CAMK2G	HRAS	GTF2E2
HP_SPLIT_NAIL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPLIT_NAIL	GTF2H5	EFNB1	CARS1	DKC1	ERCC3	ERCC2	TARS1	RNF113A	GTF2E2	MPLKIP
HP_DYSTROPHIC_TOENAIL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSTROPHIC_TOENAIL	NECTIN1	KRT74	KIF1A	COL7A1	KLHL24	RUNX2	WNK1	ITGB4	KRT5	PERP	RAB7A	ZMPSTE24	NOTCH1	RETREG1	WNT10A	SCN9A	COL17A1	DST	SMARCE1	KRT14	LMNA	IKBKG
HP_HYPERCONVEX_FINGERNAILS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERCONVEX_FINGERNAILS	RPS6KA3	CTBP1	PLEC	PTDSS1	NSD2	LETM1	CPLX1	MBTPS2	FGFRL1
HP_DEEP_SET_NAILS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEEP_SET_NAILS	HRAS	EZH2	EED	SUZ12	NSD1
HP_THIN_NAIL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIN_NAIL	TRPS1	WNT10A	EED	EZH2	IFT122	ANAPC1	CAMK2B	SUZ12	HRAS	ALOX12B	ALOXE3	MBTPS2	MSX1	NSD1
HP_ABSENT_FINGERNAIL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_FINGERNAIL	KCNA1	EOGT	TBC1D24	JUP	ARID1A	PIGP	TRIM8	SCN1B	NOTCH1	NEUROD2	KCNH1	RBPJ	ARHGAP31	NOG	BCR	COL7A1	SLC25A22	CRKL	KCNN3	CASK	DOCK6	CDKL5	ATP6V1B2	LRP4	DSP	SCN2A	APC	GNAO1	PIGQ	GRM7	FIG4	ARX	MAPK1	DMXL2	PORCN	SIK1	DLL4	GRIN1	PNKP
HP_PARONYCHIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARONYCHIA	KRT6B	SLC39A4	KRT17	KRT16	WNK1	CEBPE	KIF1A	ADAM17	SCN9A	KRT6A	LAMA3	STAT3	LAMC2	BLM	LAMB3	RETREG1
HP_LEUKONYCHIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEUKONYCHIA	ABCA12	TRPS1	GJA1	GJB2	PEX6	CAST	PEX1	KIF11	ATP2A2	DSC3	KANK2	DSP	PLCD1
HP_BROAD_NAIL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_NAIL	FHL1	IHH	IL17RA	CLEC7A	IFT43	IL17F	IL17RC	HPGD	TRAF3IP2	IKBKG
HP_WEIGHT_LOSS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WEIGHT_LOSS	FOXP3	PMS1	SDHB	CACNA1S	IRF2BP2	FANCB	BAP1	UBE2T	FIP1L1	BRCA1	HTT	LRP12	VHL	TET2	IFNGR1	ECE1	JAK2	STAT6	TERT	GATM	TLR4	SPG11	DNMT3A	PDX1	HFE	CDKN1B	TP53	THPO	IFIH1	ASXL1	MECP2	CTNS	STAT5B	SLC11A1	MSH2	FH	HMGCL	SEMA3D	CHEK2	KRT1	NALCN	PCNT	MAX	UNC80	EPCAM	LRRK2	ATP7A	HSPG2	LIPA	PALB2	HAVCR2	HLA-DQB1	BRCA2	CALR	PRTN3	NDP	TTR	GJA1	GFAP	SPTLC1	GALC	PTPN2	TXNRD2	HLA-DPB1	MYL2	SCNN1A	DCTN1	SCNN1B	IKZF1	RAD51C	TPM2	FOXP1	MPL	RNU7-1	PRNP	MAD2L2	FANCA	TRIM28	TRIP13	CDC73	AVP	COL4A5	IL2RA	HLA-DRB1	HACD1	BRIP1	NNT	BCOR	ERCC3	PTEN	SDHA	RFWD3	ATRX	IL12A-AS1	LMNA	RET	PML	VPS35	HLCS	RHBDF2	BMP6	F5	CUL4B	GJB3	TMEM127	EDNRB	HLA-B	MDH2	IL12B	TYMP	MLX	ATR	KRAS	MAFB	SRSF2	DNAJC13	EDN3	MRAP	PKHD1	WT1	RRM2B	BCL6	FLI1	SLC9A6	KCNJ18	LIG3	SLC25A11	NOD2	EPAS1	STUB1	STAT3	GIGYF2	TCF4	MSH6	KIF1B	PSAP	PTPN22	STAR	CYP24A1	SELENON	UNC45A	EIF4G1	HLA-DQA1	AKT1	CCND1	RB1	SCNN1G	SDHAF1	ATRIP	SLC5A1	DAXX	ALS2	CRLF1	ERCC4	BMPR1A	SEMA4A	ITGA7	IL10	ATP7B	KLRC4	KLF1	CDKN1A	RBBP8	TWNK	POLG	SDHD	MEN1	ACTA1	MC2R	HLA-DPA1	GBA1	CNTNAP1	SIGMAR1	NUMA1	P4HA2	SMO	FANCC	DLST	IL6	CD247	CEP152	SUCLA2	MAP3K20	ATM	KIT	GATA2	SLC39A4	ZNRF3	PRKAR1A	PANK2	MALT1	CD244	STAT4	H19	TGFB1	CIITA	FAN1	SPINK1	SLC6A8	IRF4	PIK3R1	SLC34A1	ERBB2	CDKN2B	SLC34A2	VPS13A	CTLA4	ERAP1	NOS1	ACADM	CTRC	GPR35	NRTN	TRAIP	ERCC5	TSHR	GDNF	MLH1	ANKRD55	ABCD1	SYK	DIS3L2	CDKN2A	ERBB3	FUS	SNCA	FANCD2	POU6F2	PIK3CA	RABL3	NF1	STAT1	IL2RB	FANCI	RARA	SLC22A4	SEMA3C	CDH23	CDKN2C	XRCC2	CENPE	CENPJ	REST	BCL2	GATA4	KCNJ11	NOTCH2NLC	NABP1	ZBTB16	PERCC1	ELF4	BTK	AK2	ABCC8	C4A	ANO1	SREBF1	IL12A	NUP85	IL23R	GJB4	MEFV	SDHC	GPC3	NPM1	GIPC1	PALLD	NFKBIL1	FANCF	NBN	COL4A6	ZMPSTE24	KRT10	BIRC3	RPS20	GCK	CTNNB1	CUBN	GNPTAB	NDUFAF6	TGFBR2	MST1	PMS2	SMAD4	JPH3	TPM3	FANCM	CCR1	RNF168	LPIN2	SLX4	NAB2	KDSR	PLK4	FANCL	SLC2A3	AMN	CBL	MLH3	CFTR	RUNX1	INS	SEMA4D	ERCC2	BCL10	EHHADH	FANCE	UBAC2	FANCG	TRPV4	TRIM37	ACAT1	BTNL2	TBL1XR1	EWSR1	RAD51	FAS	SDHAF2	GABRA3
HP_POSTAXIAL_FOOT_POLYDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTAXIAL_FOOT_POLYDACTYLY	DYNC2H1	IFT74	CSPP1	DYNC2I2	IFT172	MKKS	WDR19	DYNC2I1	PLAA	TXNDC15	B9D2	KIF7	RPGRIP1	LBR	DYNC2LI1	CEP290	DHCR7	DDX59	TCTN2	MKS1	EVC2	KIAA0825	IFT140	TCTN3	EXTL3	TMEM107	GLI3	NPHP3	TMEM237	LZTFL1	TMEM216	SCNM1	SETD5	CC2D2A	C2CD3	DYNLT2B	LMBR1	BBS9	ARL6	TMEM67	BMP4	BBS2	HOXD13	INPP5E	CIBAR1	SMOC1	ZNF141	OTUD5	EVC	TMEM231	B9D1	TTC21B	NEK1	PDE6D	IFT80	BBS1	SMO	CEP120	CD96	RPGRIP1L	TCTN1	PRKACB	SC5D	CCDC28B
HP_SHORT_TOE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_TOE	BMPR1B	SVBP	SOX9	GRIP1	HBA1	LETM1	ALMS1	MYCN	CPLX1	IFT122	ARSL	TNNT3	ACVR1	FGFR1	FIG4	EP300	ADA	FGFR3	GPX4	COL2A1	HDAC4	ABCC9	IL7R	RMRP	SALL4	EIF4A3	OFD1	TRPV4	CTBP1	NSD2	IFT140	SLC26A2	NOG	FLNA	CHSY1	HOXD13	GPC4	FGFRL1	RAG2	TBX3	DNMT3A	PUF60	LIG4	BMP2	TBL1XR1	ALOX12B	KCNJ8	GPC3	KAT6A	HOXA13	RAG1	CHD7	B3GLCT	PDE4D	IHH	SF3B4	FGFR2	IL2RG	BHLHA9	VAC14	GDF5	ASXL1	GJA1	RBPJ	PHF6	RAB3GAP2	MIA3	ZMIZ1	WASF1	NOTCH2	SPECC1L	PRKAR1A	FLI1	DCLRE1C	DHCR7	MGP	PIGV	EOGT	TBX22	PIGF	BPNT2	C12orf57	DYRK1A	NPR2	SMAD4	HBA2	KCNH1	ADAMTS2	PRKG2	SHOX	GHR	PIGG	CHST11	COX4I1	RNU4ATAC	GNAS	NELFA	ASAH1	PTH1R	ALOXE3	HEATR3	KMT2A
HP_ABNORMAL_METATARSAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_METATARSAL_MORPHOLOGY	VPS35L	SOX9	LMBR1	ERCC6	NEK1	GNAS	HOXD13	NSUN2	LETM1	LMNB2	CPLX1	CDC42BPB	FGFR2	TNNT3	ZBTB20	ACVR1	B3GALT6	PRG4	FIG4	FLNA	EP300	PRMT7	GLI3	COL2A1	WNT7A	MEG3	RAB23	IFT52	HDAC4	CANT1	SLC35A2	TRPV4	CRPPA	CTBP1	PTPN22	COG4	PRKAR1A	NSD2	IFT140	FKRP	SLC26A2	SALL1	B3GALNT2	TCF4	DLK1	UBE3B	TWIST1	POR	GDF5	PEX7	FGFRL1	RAB33B	MYH8	PTEN	CHST3	TGDS	LIG4	MMP2	CHSY1	FBLN1	HOXA13	POMK	DCHS1	LRP5	TRPS1	SKI	POC1A	PEX1	KIF22	B3GLCT	PDE4D	FLNB	IHH	DAG1	VPS13B	DYM	ZNF407	FBN2	HSPG2	PIEZO2	MAPK1	VAC14	KCNJ2	ADAMTS10	PTHLH	PTH1R	FKTN	RBPJ	TP63	RAB3GAP2	POMT1	AKT1	RIPK4	SH3PXD2B	TNNI2	B4GAT1	FGFR1	ANKRD55	DHCR7	HINT1	MAP3K20	POMT2	SIL1	WDR26	TTC26	PEX5	MAFB	PTPN2	BMPR1B	ABCC9	NAA10	KNSTRN	MAP3K7	NALCN	LZTFL1	RTL1	NPR2	FAT4	LARGE1	DDR2	SMARCA2	IL2RB	EZH2	GUSB	POMGNT1	TUBB3	FBN1	PRKG2	IFIH1	PHYH	COL4A1	SHOX	INPP5K	STAT4	B3GAT3	PIGS	IL2RA	POMGNT2	FGF9	PEX2	DHCR24	PORCN	HEPHL1	PIK3CD	FIBP	RSPRY1	RXYLT1	CD247	SRY
HP_LONG_FOOT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_FOOT	FIBP	POLR3A	SETD2	AGPAT2	NSD1	HERC1	INSR	NF1	RNU4ATAC	FOS	AIP	MEN1	KMT5B	PPARG	BSCL2	RPS6KA3	ASNS	PACS1	CAVIN1	CAV1	SUZ12	SIM1	EED	PIGL	PDGFRB	FLNA	UPF3B	UBE3B
HP_CAMPTODACTYLY_OF_TOE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAMPTODACTYLY_OF_TOE	PRG4	FLNA	IPO8	JUP	PPP2R5D	GLI3	CHRNG	FHL1	PHF6	SCARF2	MYL11	PIEZO2	MMP2	FGFR3	DSP	BCOR
HP_BROAD_TOE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_TOE	NEK1	TBX1	IFT122	LRP4	IL11RA	NOG	KCNH1	TNNT3	ASPH	GPC4	HPGD	KIAA0753	EP300	FGFR3	NBAS	ACAN	MEIS2	DLX5	PIGL	TAF6	ALDH6A1	PPP2R1A	C2CD3	CREBBP	HOXD13	GLI3	WNT5A	BMP2	DNM1L	ZEB2	FGFR2	MED12	SETBP1	SUMF1	HNRNPR	CCDC22	SF3B4	FGFR1	KMT2B	TWIST1	FLNA	PYCR2	USP9X	SATB2	ZMIZ1	DVL1	NPR2	GJA5	NKX2-5	GDF5	BCOR	ABCC9	NAA10	SMC1A	TBCK	SCNM1	RHOA	GATA6	GJA8	GPC3	LBR	UBE2A	SMARCA2	BMPR1B	PRKG2	PIGO	CHST11	PUF60	PDE4D	NKX2-6	EFNB1	BPTF	EBP	SIAH1	ZMYM2	WDPCP	FGF9	ADNP	COL2A1	ROR2
HP_SPLIT_FOOT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPLIT_FOOT	UBA2	TP63	PORCN	GLI3	DLX5	FGFR2	MAP3K20	WNT10B
HP_METATARSUS_ADDUCTUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METATARSUS_ADDUCTUS	RAB3GAP2	SOX9	DDR2	DLK1	UBE3B	TRPV4	SH3PXD2B	TNNI2	NSUN2	EZH2	LETM1	LMNB2	CPLX1	GUSB	TUBB3	FGFRL1	FBN1	MYH8	CHST3	TNNT3	ZBTB20	B3GALT6	LIG4	B3GAT3	FIG4	DHCR7	WDR26	PEX5	GLI3	SKI	PEX1	MEG3	RAB23	SLC26A2	NALCN	SLC35A2	PEX2	DHCR24	CTBP1	RTL1	FBN2	FIBP	PIEZO2	NSD2	MAPK1	VAC14
HP_PREAXIAL_FOOT_POLYDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREAXIAL_FOOT_POLYDACTYLY	CPLANE1	LMBR1	RAB23	MEGF8	NEK1	LETM1	PITX1	CPLX1	HOXD13	GLI3	IFT172	FGFRL1	FGFR2	CTBP1	KIF7	NSD2	ZSWIM6	SMO
HP_FOOT_ACROOSTEOLYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOOT_ACROOSTEOLYSIS	RETREG1	ZMPSTE24	WNK1	SCN9A	KIF1A	COL3A1	LMNA	NOTCH2	MTX2
HP_ABNORMALITY_OF_THE_HALLUX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_HALLUX	NEK1	ITCH	VPS37D	IFT122	LRP4	IL11RA	CTCF	FGFR2	HOXD13	PRDM5	ACVR1	B3GALT6	TP63	MFN2	SOX5	FGFR1	GNE	HYLS1	EP300	GLI3	MEGF8	CANT1	CTBP1	PRKAR1A	METTL27	ELN	TCF12	NSD2	TBC1D2B	GPC4	FGFRL1	SUMF1	COL1A2	EFNB1	KCNN3	GTF2IRD1	H4C9	ZEB2	YY1	MED12	KAT6A	DYRK1A	CPLX1	BHLHA9	HNRNPR	IHH	FGFR3	GDF5	TWIST1	FLNA	LMBR1	PTH1R	BMPR1B	CREBBP	RAB23	BCL7B	USP9X	NPR3	MLXIPL	HSPB8	RBBP8	NPR2	NCF1	HOXA13	KIF7	FAM20C	LETM1	PSMB8	MAP3K20	SMO	MGP	SMC1A	FKBP6	GATA6	RFC2	TBL2	ERF	UBE2A	ZNF469	SATB2	GTF2I	FHL1	KCNH1	PIGG	PIGO	CHST11	PDE4D	BPTF	IMPDH2	SIAH1	CLIP2	AEBP1	NKX3-2	FIG4	HSPB1	FGF9	NELFA	ROR2	STX1A	HEATR3	GBA1	PTHLH	SRY	DNAJC30	SOX9	FIBP	TBX1	CDKL5	GATA4	NOG	TNNT3	ERMARD	ASPH	KIAA0753	NBAS	PCDHGC4	ACAN	SLC29A3	MEIS2	ABCC9	TTI2	DLX5	IFT172	SALL4	EIF4A3	ATL3	ATP6V1B2	TAF6	ALDH6A1	PPP2R1A	C2CD3	CHSY1	PUF60	PTEN	CHST3	SCARF2	BMP2	DNM1L	KCNJ8	GCH1	PTRH2	BUD23	NFIX	NUP107	SETBP1	PITX1	NR4A2	CCDC22	SF3B4	ZSWIM6	VAC14	KMT2B	POLR3GL	BAZ1B	DPM1	CPLANE1	AKT1	PYCR2	ZMIZ1	CWC27	GJA5	GJA1	SLC16A2	NKX2-5	ACTB	FLI1	USP7	BCOR	EIF4H	NAA10	GTF2IRD2	LIMK1	SCNM1	RHOA	NXN	GJA8	MYH3	LBR	TMEM270	SMARCA2	TBR1	NONO	B3GAT3	NKX2-6	EBP	GNAI1	SALL1	WDPCP	ADNP	SMS	COL2A1	KAT6B	DACT1
HP_OVERLAPPING_TOE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVERLAPPING_TOE	CDC42	CREBBP	PDZD8	PCGF2	PPP1R21	GJA5	EP300	UBE2A	PIEZO2	SNRPN	SOX5	DHCR7	EXT2	MED12	KAT8	RAB3GAP1	GDF6	RAB11B	SLC6A9	INTS8	OTUD6B	HUWE1	WIPI2	TELO2	USP9X	HNRNPK	SETBP1	SMAD4	CPLX1	DLK1	GJA8	DDX6	NEK9	TMCO1	RTL1	TCF4	EZH2	GLI3	RSPRY1	BLTP1	ATN1	TPM2	SIN3A	CCDC47	SLC35C1	MYOD1	PUF60	XYLT2	ARX	MED25	BPTF	EBP	THOC6	MEG3	TMEM94	INTS1	CCDC22	SF3B4	CTU2	ZNF407	MAPK1	SOD1	ASXL1	RAB3GAP2	TMEM260
HP_LONG_HALLUX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_HALLUX	FIBP	GNAI1	GNE	NPR3	NKX3-2	NPR2	SMS	KCNH1	KCNN3	SCARF2	PRKAR1A	FAM20C	KAT6B	POLR3GL	SOX5	FLI1	ZEB2	DPM1	PTH1R
HP_FOOT_OLIGODACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOOT_OLIGODACTYLY	LRP4	GLI3	WNT7A	APC	DLX5	SF3B4	SMOC1	PORCN	WNT10B	DLL4
HP_ABNORMALITY_OF_THE_TARSAL_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_TARSAL_BONES	BMPR1B	MYH3	ADAT3	LMBR1	ERCC6	TNNI2	MKKS	PTH1R	INPPL1	PLAA	LBR	DOK7	CUL7	HDAC6	FIG4	EXT2	GLI3	IPO8	GPX4	MAP3K7	LEMD3	MEG3	TELO2	MYBPC1	CANT1	AEBP1	ATPAF2	MMP14	NOG	OFD1	SAMD9	DLK1	CHSY1	POR	EMG1	TNNT3	PUF60	GDF5	GJB2	TOR1A	COL11A2	MMP2	H4C9	KIF14	EIF2AK3	ZEB2	ERCC5	FBLN1	SYT1	CCDC8	ADAMTSL1	HOXA13	TPM2	OBSL1	EBP	SMPD4	PEX1	EXOC7	NALCN	DYM	MYL11	WNT7A	NUP188	VAC14	ECEL1	FLNA	RELN	PHEX	GJB6	SMOC1	ERCC1	GFM2	FLNB	SATB2	PSAT1	ERCC2	KATNB1	CHRNG	FGFR1	GLE1	NGLY1	HOXD10	KANSL1	AARS1	FGFR2	SCYL2	NDE1	ERGIC1	MAFB	GDF6	ZC4H2	NUP88	EN1	ATP6AP2	COL25A1	EPB41L1	RTL1	COL2A1	TBX4	EXT1	SLC35D1	SLC29A3	DPH5	HADHB	COL1A2	BAP1	EZH2	ARID1B	MUSK	FBN1	WRN	HADHA	MAGEL2	OTUD5	ATP7A	SLC2A10	ZMPSTE24	MATN3	FGFR3	CLTCL1	PHGDH	LMNA	RBM10	RSPRY1	MAF
HP_SANDAL_GAP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SANDAL_GAP	NSUN2	CTCF	CUL4B	TNNT3	EZH2	BCR	LTBP4	NSD1	DDX59	NBAS	GALNT2	IGF1R	IFT52	HERC2	MEIS2	CANT1	SMARCE1	ATR	SALL4	AEBP1	GMNN	MBD5	SLC26A2	ALG12	SATB1	NUP85	ARID1B	FBXW11	COX7B	SMARCA2	MAN2C1	SMOC1	CHST3	EFNB1	LIG4	H4C9	YY1	SETD5	RAI1	KAT6A	COL11A2	PCNT	SETBP1	EED	BMP2	ESCO2	B3GALT6	FLNA	DPM1	SVIL	CREBBP	TRAIP	MTX2	VPS13B	TRIP12	EP300	IFT57	PIEZO2	SUZ12	ATRIP	CRKL	FBXO11	BCOR	NAA10	PLK4	TCF20	SMARCD2	PIK3CA	RHOA	NXN	TBX4	DCPS	IFT43	RBBP8	GATA1	ARID1A	TRIO	PRKG2	B3GAT3	COL1A2	BPTF	DSP	FLNB	CILK1	MAPK1	ADNP	CENPE	CENPJ	ROR2	HEATR3	CEP152
HP_TOE_CLINODACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TOE_CLINODACTYLY	FLNA	WWOX	EZH2	ATP2B1	TGFBR2	SATB2	RNF6	KCNJ2	FLI1	DLEC1	KCNJ5	XYLT1	ALG3	CKAP2L	SALL1	HNRNPR	HEPHL1	RSPRY1	DACT1	COG8	PIGH	RAB3GAP2	NOG
HP_CLINODACTYLY_OF_THE_5TH_TOE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLINODACTYLY_OF_THE_5TH_TOE	KCNJ5	ALG3	CKAP2L	WWOX	TGFBR2	HEPHL1	RNF6	KCNJ2	PIGH	SALL1	RAB3GAP2	DLEC1
HP_DEEP_PLANTAR_CREASES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEEP_PLANTAR_CREASES	CREBBP	PRKD1	ERCC6	ATP6V0A2	GPR101	EP300	PIGN	ABCC9	MTOR	HNRNPK	AIP	ATP6V1B2	TBL1XR1	HRAS	ASXL1	KCNJ8	PIGQ	KCNN3	KCNH1
HP_ABNORMALITY_OF_THROMBOCYTES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THROMBOCYTES	FOXP3	EOGT	CFI	IRF2BP2	ITGA2B	WIPF1	ANKRD26	FANCB	ABCD4	MECOM	RASGRP1	ACAD9	SAMHD1	SPATA5	UBE2T	FIP1L1	NHP2	SAMD9L	IFNGR1	LIPA	UBA1	ITGA2	CFH	RNASEH2A	SLFN14	PRF1	PSAP	RNASEH2C	DOCK2	TET2	TERT	PTPN11	ADAR	RPS24	DNASE1	THBD	POMP	THPO	ENPP1	PHGDH	IFIH1	TCIRG1	DZIP1L	ASXL1	JAK2	HPS6	CFB	GP1BA	STAT5B	RAG1	RPS27	GP1BB	AGK	ADH5	ADA2	FCGR2C	HMGCL	NOP10	LIG4	RPS28	DOCK6	ATP7B	GALC	RREB1	PARN	KCNJ1	RRAS	RTEL1	NFKB1	RFXANK	FANCC	MYH9	TINF2	GP9	RIT1	EPHB2	BCR	VPS33A	PCCB	CLCN7	PALB2	STIM1	RNASEH2B	BLOC1S6	MAGT1	RPS29	HLA-DQB1	BRCA2	LRBA	NOTCH1	RPL35A	VWF	SOCS1	WARS2	ABCC6	SRC	ERBB3	TBX1	GNAS	TBXAS1	IKZF1	XIAP	VPS33B	RAD51C	FLI1	GFI1B	LBR	MPL	CTC1	WAS	SKIC3	REL	GATA1	FANCF	ABCA1	CTLA4	BLOC1S3	MAD2L2	CDC42	HLCS	SMARCAL1	NPM1	FANCA	PCCA	ACP5	CTNNBL1	SLC35A1	MARS1	GBA1	TBXA2R	SCARB2	ATP6V1B2	MMUT	GNA14	BRIP1	SLC37A4	BCOR	DIAPH1	EFL1	CD19	IKZF5	PNP	DGKE	RFWD3	TMEM165	SRP54	SC5D	PML	CASP10	ATRX	STT3B	STAT4	TLR7	CFHR3	HPS3	STXBP2	ADA	RFX5	LYST	NRAS	CFHR1	RPL26	NBN	WRAP53	SLC20A2	HBB	MPIG6B	CALR	KMT2D	SRSF2	NBEAL2	CLPB	ALG12	SAMD9	BRCA1	DHFR	SBDS	MADD	VPS45	PIGA	COG4	RBPJ	ARHGAP31	SALL4	STAT3	KIF15	PTPN22	RPS19	SP110	LSM11	ITK	SLC39A7	MGAT2	TLR8	SLC7A7	FLNA	TUBA8	PLA2G4A	COMT	LCP2	RPS15A	ANKRD11	HLA-DQA1	RAG2	GIMAP5	ATP6AP1	DGUOK	SEC24C	LZTR1	XPR1	IRAK1	WDR1	RASGRP2	MOGS	PRKCD	SMPD1	IFNG	LARS2	NAA10	MMAB	ERCC4	NLRC4	SNX10	SH2D1A	SCN10A	FERMT3	ABL1	RUNX1	NFKB2	OCRL	BRAF	SH2B3	PDGFRB	PRDX1	ARHGEF1	ITGB3	UROS	HLA-B	APOE	NUMA1	ACD	P4HA2	NHEJ1	PKHD1	ALG8	C3	RPS7	SOS1	MTHFD1	ABCG8	FAS	CIITA	PLAU	TERC	FCGR2B	UNC13D	LACC1	HMOX1	TCN2	TFRC	MMACHC	SF3B1	KIT	GATA2	POLRMT	STAT1	RPSA	IRF8	MYORG	RPS26	RFXAP	HSCB	FANCD2	PIK3CD	RNU7-1	CBL	PPIL1	KDM6A	ERCC6L2	RRAS2	DLL4	ADAMTS13	WFS1	FANCE	CD36	BLOC1S5	HPS4	HLA-DRB1	OCLN	G6PC3	PDGFB	OSTM1	PMM2	MRAS	PSMB9	MMAA	UQCRFS1	RPL15	SLC19A2	TPP2	CD46	AP3B1	RPL11	PRKAR1A	ZAP70	P2RY12	STX11	LMBRD1	SLC46A1	RPL27	STING1	TREX1	MYSM1	LAT	PSMB8	ICOS	ACTN1	TALDO1	SARS2	PRKACG	SPP1	USB1	RPS10	DKC1	GUCY1A1	FASLG	SCN11A	SCN9A	KRAS	CD81	MED12	NOS3	FANCI	RARA	ETV6	DTNBP1	TTC7A	CR2	RPL18	RYR1	TNFRSF13B	XRCC2	ASAH1	IL6ST	RPL31	HEATR3	STAT2	HOXA11	RPL5	PEPD	PIK3CG	COL4A5	TBC1D24	NSUN2	FYB1	CD55	NIPBL	CISD2	NABP1	JAM2	ZBTB16	ELF4	HIRA	BTK	TUBB1	TNFAIP3	FCGR2A	TP53	FLT1	RBM8A	SOS2	SKIC2	TSR2	ARVCF	FOCAD	HELLPAR	COG1	SPRED2	DCLRE1C	PRIM1	DNAJC21	CDC40	ELANE	COG6	FARS2	ESCO2	RASA2	CD109	HPS5	RAF1	TYMS	IVD	CUBN	MAP2K1	RPS20	CORIN	FANCM	MVK	SLX4	SASH3	TGFB1	TNFRSF13C	PSMB4	ORAI1	FANCL	RPS17	PSTPIP1	DEF6	SMARCD2	ZNFX1	AMN	MS4A1	ARPC1B	STOX1	NLRP3	TOM1	CYCS	FANCG	CD40LG	MTOR	TNFSF12	RPL35	JMJD1C	OTUD5	RPS14	TNFSF11	ACAT1	USP18	BTNL2	TBL1XR1	RAD51	CA2	UFD1	IL7R
HP_ABNORMALITY_OF_NEUTROPHILS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_NEUTROPHILS	MDM4	FOXP3	PNP	UNC13D	IRF2BP2	WIPF1	TNNC1	ACTC1	LAMTOR2	ABCD4	TCN2	MECOM	FBXL4	CAP2	TFRC	MMACHC	SF3B1	ABCC9	KIT	GATA2	FANCA	FIP1L1	STAT1	SAMD9L	DES	IRF8	HAX1	STK4	CD40	TCF3	RPS26	FHL2	RFXAP	HSCB	TET2	FANCD2	GPI	PIK3CD	CYBC1	TERT	RAB27A	RPS24	PPIL1	GATA1	AP3D1	TAF1A	RAC2	ASXL1	MYH9	ACTN2	STAT5B	CD79A	CEBPE	GFI1	RPS27	RASGRP1	TDP2	FANCE	NCF1	ADA2	TONSL	IL1RN	NHP2	LIG4	RPS28	G6PC3	RECQL4	IL36RN	NOP10	PARN	CYBA	SAMD9	STXBP2	MMAA	TCIRG1	RMRP	TINF2	RFXANK	FANCC	TERC	RPL15	CYBB	TPP2	ANKRD1	PMM2	GTF2H5	AP3B1	VPS33A	RPL11	PCCB	RTEL1	PRKAR1A	FCGR3B	STX11	RPS29	TICAM1	IGHM	LMBRD1	RPL27	VPS13B	LRBA	RPL35A	HLA-B	MYH6	SCN5A	MYSM1	FTCD	FDX2	TMPO	MPLKIP	RPL26	PIK3R1	SLC19A1	PLN	MEFV	PGM3	FNIP1	NCF2	IKZF1	XIAP	GINS1	DMD	MYPN	USB1	LBR	CTC1	RPS10	FASLG	CIITA	WAS	GTF2E2	PACS2	SLC46A1	IRAK4	SMARCAL1	SLC37A4	MYBPC3	ICOS	NPM1	PCCA	ACP5	AGA	SLC35A1	RARA	ETV6	CSF3R	MMUT	BCOR	RPL18	EFL1	SPI1	BAG3	EPG5	GATAD1	TXNRD2	RPL31	TPM1	SRP54	RPL5	MYH7	TFR2	PML	ELANE	PIK3CG	ERCC3	CASP10	NSUN2	TAFAZZIN	FAS	ATRX	TMEM147	BLNK	HTRA2	MAD2L2	CLPB	RFX5	NABP1	PRF1	LYST	MVK	ZBTB16	IFNG	FKTN	SGCD	NBAS	TLR3	RAG1	BTK	TTN	RPS19	WRAP53	TNNI3	PRDM16	FMO3	AK2	DSG2	COG4	SRSF2	DOLK	BAG5	GSS	SBDS	CDCA7	TBK1	TARS1	DKC1	TSR2	TNNT2	VPS45	ZBTB24	LMNA	ITCH	STAT3	SLC35C1	IL6ST	DNMT3B	DSP	DNAJC21	TCAP	FANCI	CDC40	NEXN	TRAF3	CARS1	CRYAB	SEC61A1	SDHA	CD79B	HELLS	TLR8	RPS17	LRRC8A	TYMS	LCP2	CUBN	RPS15A	RPS20	PSEN2	RPS7	ERCC2	FUT8	RNF113A	CAMK2B	WDR1	UBE2A	PRKCD	VCL	CXCR2	SASH3	MTRR	MMAB	PPCS	JAGN1	OTULIN	SH2D1A	SMARCD2	ZNFX1	AMN	CBL	LAMA4	NLRP3	CSRP3	TOM1	FANCG	RUNX1	CD40LG	HAND2	NDUFA6	MYD88	RPL35	PRDX1	FBXW7	CXCR4	PSEN1	RPS14	RBM20	IGLL1	LDB3	NUMA1	NRAS	ANAPC1	RAF1	MSN	IKBKG	MTHFD1	UNC93B1	TBL1XR1	FIBP	EIF2AK3	KRAS	NCF4	IL7R
HP_PANCYTOPENIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCYTOPENIA	PML	ELANE	LIG4	DCLRE1B	DUT	IRF2BP2	ITCH	TCN2	ACP5	SF3B1	SBDS	FANCA	FIP1L1	NHP2	PTPRC	IKZF1	FANCB	SAMD9L	CLPB	RFX5	NABP1	ZNF699	RNASEH2A	ZBTB16	STN1	IFNG	PRF1	COQ2	RFXAP	FANCD2	HOXA11	RAB27A	TERT	HAVCR2	TERC	SRP54	IFIH1	TCIRG1	ASXL1	JAK2	ACD	STAT5B	FARSB	DHFR	GFI1	FANCE	GNAS	NPM1	GATA2	RAC2	NOP10	GBA1	STAT3	RECQL4	DNAJC21	OSTM1	SAMD9	COG6	TET2	MMAA	RFXANK	SP110	FANCC	ITK	TINF2	TNFRSF4	PCCB	PRKAR1A	IVD	CUBN	ALPK1	XIAP	LMBRD1	SLC46A1	CALR	LRBA	UBE2T	CD27	PALB2	PIGA	SRP72	WRAP53	SLX4	MTRR	BACH2	MMAB	NLRC4	PSTPIP1	SH2D1A	AMN	EFL1	CBL	ADA2	DNASE2	TCF3	RUNX1	LYST	PCCA	DKC1	ATR	NBN	RARA	MAN2B1	NUMA1	NRAS	SCARB2	ANAPC1	TNFSF11	MRPS7	SRSF2	BCOR	XRCC4	MPL	MTHFD1	TBL1XR1	NAXD	CA2	CIITA	SMARCAL1	KRAS	HLA-DRB1	RPA1	TALDO1
HP_ABNORMAL_ERYTHROCYTE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ERYTHROCYTE_MORPHOLOGY	FOXP3	SLC4A1	NLRP3	MT-ND4	HPRT1	NDUFA9	PKLR	MECOM	YARS1	TRNT1	TREX1	SPTA1	LIPA	HBA1	UBA1	ZNF699	TET2	GPI	TERT	RMRP	ADAR	NDUFS7	DNASE1	APPL1	IFIH1	TCIRG1	ASXL1	JAK2	CYB561	COL7A1	CFB	GP1BA	TSR2	STEAP3	NDUFA13	RASGRP1	ADH5	ADA2	TBXAS1	COX15	RPS28	ATP7B	HBB	IDH1	NDUFA2	NFKB1	SPTB	RFXANK	FANCC	TINF2	HBG2	SLC25A21	KCNJ11	VPS33A	PALB2	STIM1	HBG1	ENG	PRPS1	RPS29	BRCA2	PGK1	LRBA	SLC25A13	RPL35A	FDX2	RPL26	PTPN2	PGM3	APC	EPO	FOXP1	GFI1B	RNU7-1	CCND1	RAC2	COL2A1	KCNN4	MAD2L2	SMARCAL1	SLC37A4	HBA2	KIT	IL2RA	MMUT	LARS1	GNA14	ABCC8	BRIP1	GALT	MPL	ABCB6	RPS10	EFL1	EPAS1	CD19	PNP	DGKE	ATRX	TEK	TFR2	DUT	CASP10	MT-ND5	GCK	SDHA	TNFSF11	FAH	IREB2	ADA	RFX5	CFHR1	RAG1	GALNT2	NBN	IL12B	MLX	PIGT	COL3A1	MPIG6B	KMT2D	SRP54	IL37	NEUROD1	SAMD9	RHCE	COX10	SLC40A1	FARSB	RRM2B	DHFR	SMAD4	FLI1	MADD	SLC19A3	PFKM	PDHA1	ZBTB24	BMPR1A	STAT3	SURF1	CISD2	KHK	CLPB	SP110	UMPS	NDUFS8	TBX1	TLR8	COL4A1	SLC7A7	TNFRSF11A	RPS15A	VHL	PARN	PAX2	BTK	PRKCD	SMPD1	WRN	DAXX	MTRR	DNM1L	MMAB	GATA1	NLRC4	SNX10	PUS1	MMADHC	MT-TF	FERMT3	CBLIF	CARD10	KLF1	FAM111A	AGXT	TCF3	PHKG2	ANK1	MYD88	THRA	YIPF5	SAMD9L	PRDX1	CASR	NUMA1	ACD	ACSL4	HK1	AK1	PTF1A	C3	GSR	FADD	LYRM7	FAS	PNPO	EIF2AK3	CIITA	SLC12A3	SLC11A2	FCGR2B	UNC13D	EPB41	HMOX1	ACP5	MMACHC	AMN	POLRMT	CP	ACVR1	STAT1	RPSA	IRF8	RACGAP1	POLG	MALT1	XRCC4	HAVCR2	AMMECR1	TKFC	ATPAF2	QRSL1	ADAMTS13	TGFB1	PHF21A	GLA	MT-TH	NDUFB7	PLEKHM1	EPB42	STK11	RAG2	INS	G6PC3	OSTM1	ERCC8	IRF4	UROS	FANCL	TPP2	GTF2H5	TP53	PDX1	PRKAR1A	DPAGT1	ZAP70	FH	ACVRL1	STX11	LMBRD1	SLC46A1	SFXN4	HLA-B	MYSM1	TBCE	LAT	SLC2A1	CEL	ICOS	FOXRED1	A4GALT	SPP1	PTPN22	USB1	FASLG	CD46	SDHC	FANCI	DKC1	RARA	ETV6	TTC7A	CR2	RPL18	TNFRSF13B	XRCC2	ASAH1	RPL31	HEATR3	GBA1	LPIN2	PEPD	NDUFS2	ERCC3	NSUN2	RPS27	PCNT	CD55	LIPT1	LAMB3	NABP1	DNAJC19	IFNG	WAS	RPS19	SLC29A3	SEC23B	G6PD	FCGR2A	MT-CO1	RHAG	KCNE1	SBDS	BRCA1	KLF11	ALDOA	CYB5A	BCL11A	FOCAD	NSMCE2	ALAS2	NPM1	ALG2	HELLPAR	COG1	SLC35C1	ACTN4	FANCF	AGGF1	GATC	TAFAZZIN	ELANE	CARS1	BIRC3	FARS2	CTC1	TMPRSS6	CAD	TNFRSF4	CTLA4	TYMS	CUBN	RPS20	SDHB	RNF113A	WFS1	GCLC	NFKB2	UBE2T	WT1	PIGA	MMP1	FANCM	ABCD3	MEFV	FERMT1	SASH3	ALG8	MT-TN	ORAI1	LAMA3	RPS17	DEF6	APOB	SMARCD2	CBL	CD59	CD81	RIPK1	CD40LG	CD3G	FANCE	FANCG	ALX4	ANAPC1	MT-CO3	TNFSF12	LAMC2	BTNL2	TBL1XR1	CDIN1	FGF23	KIF1B	SC5D	HSPA9	MT-ND1	MDM4	CFI	IRF2BP2	WIPF1	FANCB	NPHP4	ABCD4	C2orf69	GATB	FIP1L1	IFNGR1	SAR1B	CFH	PRF1	PSAP	TMEM67	CYBC1	F8	RPS24	THBD	IFT140	PHGDH	SHPK	STAT5B	CELA2A	PBX1	MT-TL1	TF	HMGCL	NDUFB8	LIG4	RECQL4	ERCC4	CLCN7	COX4I2	RTEL1	PANK2	PCCB	YARS2	NDUFA12	RPS14	EGLN1	HLA-DQB1	NDUFAF2	KCNQ1	BLK	MTX2	NARS2	SOCS1	SLC30A10	EPHB4	SLC25A38	PDGFRA	XK	ABCB7	ERBB3	SRD5A3	IKZF1	RAD51C	GTF2E2	RPL5	MT-ND6	NDUFA10	CA2	ABCA1	COA8	PTH1R	FARSA	RPGRIP1L	FANCA	PCCA	MARS1	SCO2	MTTP	SCARB2	MT-TS2	NPHP1	BCOR	NDUFS3	ERCC6	RFWD3	GPX1	MT-TQ	NDUFA4	PML	ZBTB20	STAT4	CFHR3	EXT2	COL17A1	STXBP2	UROD	DDX41	LYST	ISCU	GNB2	COQ2	ALAD	WRAP53	TYMP	SRSF2	CPOX	KRT5	NDUFV1	GSS	CDCA7	CLCNKB	VPS45	LIG3	NDUFAF3	HELLS	ITK	UNC45A	PPOX	ACAD8	PLA2G4A	LCP2	CYB5R3	KIF23	ANKRD11	HLA-DQA1	PET100	ATP6AP1	RPS7	IRAK1	TCN2	NTRK1	LARS2	NAA10	TTR	CAT	OCRL	GYPC	MUC1	KCNE5	NDUFS4	ITGB4	NHEJ1	NDUFAF5	MTHFD1	KRT14	ABCG8	LIG1	CD247	TERC	HNF4A	NDUFV2	RHD	BLM	EDNRB	TFRC	SF3B1	THPO	RPS26	PHKA2	RFXAP	HSCB	FANCD2	IL7R	SLCO2A1	KDM6A	ERCC6L2	FECH	PI4KA	HPGD	PSMC1	NHP2	GDF2	HLA-DRB1	DBH	SH2B3	NOP10	CHD7	PSMB9	MMAA	UQCRFS1	PAX4	RPL15	SLC19A2	VPS13A	RPL27	IL2RG	RPL11	C1GALT1C1	MTFMT	ALPL	ELMO2	SLC25A10	STING1	NT5C3A	FTCD	ANKRD55	PSMB8	MPLKIP	SYK	SLX4	SLC19A1	TALDO1	SARS2	PRKACG	REN	RBCK1	ATP11C	F2	CYP4F22	PACS2	MTR	IL2RB	HBD	PIEZO1	SERPINA6	PSMG2	STAT2	NOD2	PIK3CG	DNAJC3	HAMP	NDUFS1	DCDC2	AASS	BPGM	ZBTB16	ELF4	BSCL2	KARS1	TNFAIP3	PLEC	FMO3	AK2	TACO1	TRMT5	RBM8A	TARS1	CLPX	CDAN1	TPI1	TOR1A	FN1	NLRP1	DCLRE1C	ZBTB7A	DNMT3B	PRIM1	DNAJC21	CDC40	KIF15	NHLRC2	IL6ST	SEC61A1	PTEN	ITGA2B	RPL35	IRX5	LCAT	CASK	ERCC2	CALR	GLRX5	NDUFAF6	UBR1	MVK	MT-CO2	TNFRSF13C	PSMB4	PSTPIP1	OPA1	CRIPT	MS4A1	TOM1	RUNX1	HNF1A	BCL10	PHKB	ECHS1	EPOR	NRAS	IDH2	MT-TW	EWSR1	GREM1	RAD51	KRAS
HP_ABNORMAL_EOSINOPHIL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EOSINOPHIL_MORPHOLOGY	ELANE	RAG2	PIK3CG	EXTL3	CD247	CDSN	CASP10	WIPF1	SLC46A1	FAS	FOXP3	SREBF1	IKBKG	CARD11	KIT	ATRX	PRKCD	SPINK5	STAT3	USP8	DCLRE1C	CLPB	ADA	IRF8	PGM3	DOCK8	RAG1	IPO8	PDGFRB	WAS	SLC27A4	IL7R	IL6ST	RMRP	SRSF2	CARD10	FASLG	TP53	RBM8A	GFI1	RASGRP1	TBX21	CAPN3	JAK1	BRAF	LIG4	NLRP3	NLRP1	TET2	RNU4ATAC	NR3C1	HLA-DRB1	CHD7	CDH23	BCL11B	TCIRG1	CD3D	USP48	TRAC	BTNL2	SRP54	IL2RG	PDGFRA	CD3E	CARD9	ZAP70	ASXL1	ZNF341
HP_LEUKOPENIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEUKOPENIA	PML	FCGR2B	EOGT	IRF2BP2	FANCB	RTEL1	STAT4	TLR7	UBE2T	FIP1L1	MYSM1	LIPA	DDX41	NABP1	ZNF699	LYST	ZBTB16	ISCU	PRF1	RPS26	RPL26	VPS33A	FCGR2A	AK2	RPS24	DNASE1	ERCC6L2	SRP54	GATA1	CLPB	DLL4	SBDS	SAMD9	BRCA1	STAT5B	TGFB1	RPS27	TSR2	ADH5	ADA2	VPS45	FOCAD	RBPJ	HMGCL	ARHGAP31	NPM1	RAC2	STAT3	RPS28	GBA1	G6PC3	HLA-DRB1	FANCF	DOCK6	RPL35A	UROS	RPS19	RPL15	ITK	VPS13B	TINF2	SLC7A7	RPL11	PALB2	PRKAR1A	IVD	RPS15A	BLOC1S6	RPS29	RPS20	ATP6AP1	BRCA2	RPL27	NOTCH1	IRAK1	PIGA	STING1	FANCM	TREX1	SLX4	PGM3	SASH3	DNAJC21	ERCC4	FANCL	RPS17	SARS2	TBXAS1	RAD51C	EFL1	SPP1	PTPN22	FANCD2	RPS10	SLC46A1	CTLA4	MAD2L2	RPL35	FANCA	FANCI	DKC1	OTUD5	RPS14	FANCE	RARA	FANCG	NUMA1	SCARB2	TERT	BRIP1	BCOR	RPS7	USB1	RPL18	MMUT	BTNL2	TBL1XR1	TERC	RAD51	RFWD3	EPG5	XRCC2	CA2	RPL31	FANCC	RPL5
HP_TALIPES_CALCANEOVALGUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TALIPES_CALCANEOVALGUS	NEFL	DHCR7	ALDH18A1	PMP22	ELN	LMX1B	ATRX	CHRNG	VPS33B	ERMARD	VIPAS39	PLA2G6	FBLN5	SPECC1L
HP_LYMPHOPENIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LYMPHOPENIA	MDM4	DCLRE1B	PNP	IL2RG	EXTL3	WIPF1	TCN2	TRNT1	STAT1	STK4	DOCK8	IRF2BP2	RFXAP	RAG1	DOCK2	PIK3CD	CYBC1	CCBE1	ADAMTS3	XRCC4	FAT4	POMP	FCHO1	IL7R	NSMCE3	TP53	PIK3R1	FOXN1	DCLRE1C	GFI1	RASGRP1	BTK	CD3E	RAC2	RAG2	G6PC3	IKZF3	BCL11B	PSMB9	TCIRG1	RMRP	CD247	NFKB1	RFXANK	DNMT3B	UNC119	ZAP70	MAGT1	LRBA	STING1	MYSM1	USP8	LAT	TINF2	ICOS	SYK	LEPR	KNSTRN	PGM3	TCF3	FNIP1	GINS1	SPP1	FASLG	WAS	CD8A	REL	RRAS2	SMARCAL1	CHD7	ACP5	CTNNBL1	LCK	CDH23	TERT	CD79B	TTC7A	CR2	CD3D	USP48	CD19	SPI1	TERC	TNFRSF13B	EPG5	PTEN	TOM1	TFR2	JAK3	ATM	ELANE	PIK3CG	B2M	TBX2	STAT4	TLR7	PTPRC	IKZF1	SGPL1	FAS	CLPB	ADA	RFX5	SKIC3	IFIH1	STAT2	NBN	TNFAIP3	IL7	SPRED2	ALG12	SAMD9	CDCA7	SKIC2	IVNS1ABP	MYC	CTPS1	BRAF	ZBTB24	IL6ST	PRIM1	NR3C1	PI4KA	SP110	HELLS	ITK	SLC39A7	TLR8	SRP54	IGHM	CTLA4	IKBKB	AK2	RIPK1	NFKB2	IRAK1	WDR1	ATRX	PRKCD	SASH3	TNFRSF13C	CORO1A	TPP2	CASP10	PSMB4	TTI2	DEF6	ADA2	MYD88	ATP11A	MCM10	MS4A1	CD81	GATA2	IL2RA	TNFSF12	CXCR4	ARHGEF1	CD3G	IGLL1	LEP	NHEJ1	MSN	IKBKG	MTHFD1	CIITA	RPA1	GTF2H5
HP_MEGALOBLASTIC_ANEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEGALOBLASTIC_ANEMIA	PHGDH	MTRR	UMPS	MMACHC	WFS1	DHFR	MTR	LMBRD1	SLC46A1	AMN	CUBN	FTCD	PRDX1	SLC19A1	SLC19A2	MTHFD1	MMADHC	CBLIF	HPRT1
HP_AUTOIMMUNE_HEMOLYTIC_ANEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AUTOIMMUNE_HEMOLYTIC_ANEMIA	FOXP3	PNP	PIK3CG	CD247	CASP10	FAS	RASGRP1	TTC7A	LRBA	ACP5	NFKB1	PRKCD	STAT1	ADA	RFX5	STAT3	RAG1	TPP2	RFXAP	NBN	WAS	DEF6	STIM1	FASLG	TOM1	PI4KA	IL2RB	RAG2	CD3G	NLRP1	RFXANK	ITK	PSMG2	TLR8	ZAP70	CTLA4	CIITA	LCP2
HP_IRON_DEFICIENCY_ANEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRON_DEFICIENCY_ANEMIA	FOXP3	HLA-DQB1	KCNQ1	CASP10	COL2A1	FAS	CLCNKB	CLPX	ALAS2	FASLG	COL7A1	CD55	MMP1	ALG2	FN1	ABCD3	ZNF699	STK11	DAXX	ELF4	NAA10	GALNT2	WAS	APC	HBB	FGF23	ATRX	PLA2G4A	KCNE1	EIF2AK3	SLC12A3	HLA-DQA1
HP_ABNORMAL_BLEEDING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLEEDING	PMS1	RASA1	EOGT	F13A1	CYP11B1	SDHB	IRF2BP2	ITGA2B	WIPF1	SMARCE1	ANKRD26	PROS1	ACAD9	CTCF	SDHD	NDE1	TREX1	APC	FOXE3	FIP1L1	SMAD4	VHL	TET2	ATOH7	C1R	TMTC3	MPL	JAK2	ITGA2	CFH	DOCK8	SLFN14	IPO8	TLR4	RAB27A	PTPN11	DNMT3A	F8	TGFB2	PLOD1	MAX	SLC51A	FZD4	CDKN1B	THPO	ENPP1	TSC2	IFIH1	BRCC3	DZIP1L	ASXL1	ATP6V1A	HPS6	CYP26C1	GP1BA	STAT5B	C2	RET	RASGRP1	MSH2	C1S	GP1BB	MAT2A	FH	ARFGEF2	KCNJ5	APP	FCGR2C	SMO	FBN1	ZEB2	TGFBR2	DOCK6	RREB1	CREB3L1	ENG	RRAS	NFKB1	FANCC	MYH9	GP9	RIT1	EPHB2	FGG	THSD1	NFIX	PCCB	CTNNB1	COL1A2	CLCN7	DSE	STIM1	UBA2	CFHR1	PDCD10	PLEC	SPARC	BEST1	LRP5	CALR	PRDM5	LBR	LOX	SLC25A13	NOTCH1	PRTN3	DST	VWF	USP8	ABCC6	BAP1	SRC	TGFBR1	PDGFRA	ERCC8	RIN2	TBX1	HPS1	HLA-DPB1	LYST	IKZF1	VPS33B	TGFBR3	CST3	FLI1	ANGPTL6	SERPINE1	GFI1B	WAS	HEY2	ALDOB	NF2	PEX12	GATA1	ADAMTS2	BLOC1S3	KIF1B	SLC37A4	SLC39A13	PCCA	ACP5	SLC35A1	KIT	MPI	TBXA2R	CDH23	MTTP	SCARB2	GNA14	EPHB4	AEBP1	USP48	BCOR	DIAPH1	NEU1	CD19	PTEN	IKZF5	SDHA	MMUT	ARF1	ATRX	IL12A-AS1	EIF2AK4	LMNA	MAP2K2	TEK	TFR2	PML	ANO6	GNA11	CASP10	RHBDF2	SREBF1	IKBKG	F5	TNFSF11	CFHR3	FAH	C4A	ATP7A	HPS3	DLL4	UROD	STXBP1	PRF1	NRAS	TMEM127	HLA-B	SMARCB1	MDH2	PDE8B	SLC20A2	CCM2	SF3B1	COL3A1	RANBP2	NBEAL2	CLPB	F7	SPRED2	CAPN5	CYP11B2	SAMD9	PRKAR1A	MYC	TSPAN12	ITGB4	RBPJ	ARHGAP31	SLC25A11	BMPR1A	EPAS1	STAT3	F9	MAP1B	GBA1	CISD2	RB1	FN1	MSH6	PTPN22	NFIA	SP110	MGAT2	COL4A1	F10	SLC7A7	COMT	SH2B3	LCP2	SERPINF2	PKHD1	GIMAP5	AMACR	F2	CACNA1D	IL18BP	NOTCH3	SEC24C	LZTR1	XPR1	RASGRP2	PRKCD	GNAQ	TRAF7	SMAD3	PRKACA	SNX10	DAXX	NTRK1	B3GALT6	ATP8B1	NLRC4	ADA2	SEMA4A	CAT	MFAP5	G6PC1	HBA2	CBS	FERMT3	ATP7B	KLRC4	ERMARD	LAMB2	CDKN1A	RUNX1	PRLR	PLVAP	GGCX	PRKG1	BRAF	MEN1	F13B	ARMC5	MYD88	PDGFRB	HLA-DPA1	CFI	ITGB3	APOE	NUMA1	P4HA2	COL5A1	SRSF2	SOS1	PET100	COG8	AIP	ABCG8	ETHE1	FAS	DLST	F11	PLAU	FGA	DCLRE1B	UNC13D	HBA1	COL1A1	HMOX1	GATA2	GCDH	FANCA	IL10	COL5A2	TNXB	MYORG	STN1	LMAN1	RACGAP1	FANCD2	ZNF408	PROC	DNM2	CBL	MVK	SLCO2A1	ERCC6	RRAS2	XYLT1	ACTA2	STAT4	TP53	CEBPE	MYRF	SIK3	HPGD	FANCE	EFEMP1	STK11	CD36	BLOC1S5	FAN1	GDF2	HPS4	HLA-DRB1	OCLN	TNFRSF1A	CPT2	PDGFB	MRAS	STXBP2	IRF4	UROS	IFNG	TERC	KRAS	PMM2	BMS1	XYLT2	AP3B1	CDKN2B	NDP	MAPK1	DPAGT1	CTLA4	FLNA	ERAP1	P2RY12	ACVRL1	ALPL	MMACHC	KRT1	COL4A2	SLC2A10	RS1	ELMO2	FKBP14	MLH1	NF1	ICOS	ACTN1	IFNGR1	AKT1	KIF23	PRKACG	RFT1	SNORD118	RBCK1	FASLG	PIK3CA	KRIT1	TGFB3	ZNF469	CD46	SMAD2	CYP7B1	CD81	TERT	MED12	SDHC	F12	ALG13	RARA	TAOK1	ETV6	FGB	DTNBP1	TTC7A	CR2	CDKN2C	GSN	RYR1	TNFRSF13B	PRKCSH	STAT2	PEPD	CDC42BPB	NEDD4L	GAA	FYB1	B4GALT1	ATP6V1E1	NABP1	JAM2	MYLK	ZBTB16	HIRA	HOXA11	IL10RA	TSC1	LMX1B	IL12A	LMBRD1	RBM8A	SOS2	PDE11A	IL23R	SMPD1	ARVCF	ADAMTSL2	MEFV	PUF60	NPM1	HELLPAR	NR3C1	AGGF1	MCFD2	MTAP	COG6	ZMPSTE24	GP6	STX11	EPCAM	RPS20	CTC1	RASA2	CYSLTR2	CD109	HPS5	RAF1	IVD	CUBN	ARL6IP6	MAP2K1	STT3A	WFS1	NFKB2	PMS2	CHST14	HMCN1	CCR1	RNF168	SUFU	KANSL1	TNFRSF13C	SBDS	PYCR1	ORAI1	HSD3B7	PLOD3	VKORC1	GNAS	ATP6V0A2	DHPS	ZNFX1	AMN	MLH3	MS4A1	ARPC1B	NLRP3	MYH11	LMOD2	EMILIN1	SEC63	TNFSF12	SIN3A	JMJD1C	TCIRG1	COPA	RPS14	UBAC2	EPOR	USP18	TBL1XR1	GREM1	ELN	UFD1	SDHAF2	CLCN2
HP_THROMBOCYTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THROMBOCYTOSIS	RPS29	RPS20	HLA-DQB1	TBC1D24	LACC1	HMOX1	CALR	RPL27	RPL35A	SF3B1	CD55	STING1	IFNG	IFNGR1	RPSA	JAK2	TGFB1	SKIC3	ELF4	RPS26	RPL26	PIK3CD	RPS19	RPS17	PSTPIP1	HBB	MPL	RPS24	GATA1	ADA2	THPO	RPS10	ABL1	SKIC2	REL	RPS27	TSR2	TET2	RPL35	HMGCL	RPS28	RPS14	MARS1	PMM2	ELANE	ATP6V1B2	ACAT1	RPL15	TTC7A	RPS7	BCR	RPL18	MTHFD1	RUNX1	RPL11	SH2B3	RPL31	RPS15A	RPL5	HLA-DQA1
HP_NORMOCHROMIC_ANEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NORMOCHROMIC_ANEMIA	RPS29	RPS20	LCAT	ALDOA	RPS27	RPL27	ABCD4	TSR2	RPL35A	ADA2	TPI1	TET2	SF3B1	KIT	RPL35	TREX1	RPS28	RPS26	UQCRFS1	RPL26	RPS19	HK1	RPL15	RPS17	RPS7	RPL18	RPS24	RPL11	SRSF2	GATA1	RPL31	ASXL1	RPS10	RPS15A	RPL5
HP_RETICULOCYTOPENIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETICULOCYTOPENIA	RPS29	RPS20	STEAP3	RPS27	RPS26	RPL27	TSR2	FANCE	RPL35A	ADA2	TERT	RPL35	FANCA	MYSM1	RPS28	RPS24	TCN2	IFNG	SBDS	RPL26	FANCD2	RPS19	FANCC	TERC	RPL15	RPS17	RPS7	RPL18	PRF1	RPL11	GATA1	RPL31	RPS10	RPS15A	RPL5
HP_NORMOCYTIC_ANEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NORMOCYTIC_ANEMIA	DNAJC21	ATP6AP1	TET2	ALDOA	HK1	MYD88	TPI1	SF3B1	KIT	EFL1	TREX1	TOR1A	RPS29	SRP54	SRSF2	ASXL1	SBDS
HP_INCREASED_HEMATOCRIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_HEMATOCRIT	EPAS1	HBB	BPGM	JAK2	HBA1	HBA2	SH2B3	EPO	EGLN1	VHL
HP_INCREASED_HEMOGLOBIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_HEMOGLOBIN	EPAS1	HBB	GATA1	BPGM	JAK2	SH2B3	EPO	EGLN1	VHL
HP_POLYCYTHEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYCYTHEMIA	HBB	ACVRL1	PKLR	EDNRB	SLC30A10	KCNN4	CYB5R3	CCND1	BPGM	HBA1	SH2B3	VHL	EPOR	PIEZO1	SLC4A1	NAA10	GATA1	HBA2	EPO	JAK2	EPAS1	ENG	FH	EGLN1
HP_GIANT_PLATELETS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GIANT_PLATELETS	GP1BA	ITGA2B	MYH9	GP9	GP1BB	CD36	ABCG8	SLC35A1	LBR
HP_NEUTROPENIA_IN_PRESENCE_OF_ANTI_NEUTROPIL_ANTIBODIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEUTROPENIA_IN_PRESENCE_OF_ANTI_NEUTROPIL_ANTIBODIES	FOXP3	TOM1	PNP	PIK3CG	CASP10	FAS	RASGRP1	ICOS	FASLG	PRKCD	ITCH	STAT1	RFX5	STAT3	PGM3	SASH3	RFXAP	RAG1	RFXANK	TPP2	FCGR3B	CIITA
HP_CONGENITAL_THROMBOCYTOPENIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_THROMBOCYTOPENIA	GATA1	HOXA11	MECOM	STAT2	MYH9	WAS
HP_THROMBOEMBOLISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THROMBOEMBOLISM	SCN5A	SERPINC1	CBS	MMACHC	TNNT2	ADA2	MYH7	KCNN4	PIGA	KIF20A	FCGR2C	PDE11A	PRDX1	F12	KCNQ1	FLNC	UBA1	F13A1	NPPA	EPOR	PRKAR1A	MTHFR	PIEZO1	SLC4A1	MTRR	TLL1	F2	TTR	CITED2	JAK2	HRG	MYPN	MT-CYB	TNNI3	HABP2
HP_HYPOPLASTIC_ANEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_ANEMIA	RMRP	RPS19	SAMD9L	LPIN2	KIF23	MVK	ZNF699
HP_LEUKEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEUKEMIA	F13A1	WIPF1	MBD4	TREM2	TYROBP	BLM	SF3B1	KIT	GATA2	FANCA	TET2	SAMD9L	BCR	NUTM1	MPL	HAX1	RPS26	RNASEH2C	FANCD2	PDGFRB	IDH1	F13B	RNU7-1	PTPN11	SETD2	RPS24	TERC	GATA1	PIGL	MSH2	THPO	ASXL1	PIK3R1	MLH1	MYD88	GFI1	RPS27	FANCE	ADH5	ADA2	TERT	NUMA1	LIG4	RPS28	H4C9	RECQL4	BUB1B	SAMD9	TAL2	TCIRG1	FANCC	RPL15	KRAS	JAK2	RPL11	PDGFRA	RNASEH2B	RPS29	CREBBP	LZTR1	NF1	RPL27	RPL35A	TRIP13	CHIC2	MLLT10	TP53	BAX	ERBB3	NPM1	STS	KIF11	ARHGAP26	APC	RPS10	SCN11A	WAS	SCN9A	APC2	DKC1	ABL1	BRD4	NUP214	TREX1	DNMT3A	XRCC4	RPL18	RPL31	SRP54	RPL5	ELANE	SPRED1	DUT	NSUN2	ATRX	BUB3	CEP57	IKZF1	CBL	RNASEH2A	CLPB	DDX41	NBN	ALAD	POT1	RPL26	BRCA2	LPP	ETV6	TAL1	SETBP1	SRSF2	EVC2	FLT3	SBDS	SMPD1	NSD1	TSR2	CALR	NRAS	RARA	RB1	DNAJC21	MDM2	GLI1	RPS19	RUNX1	LSM11	CDKN2A	SH2B3	RPS15A	MAP2K1	RPS20	EP300	SH3GL1	PIK3CA	ATM	CHEK2	MEFV	RPS17	IFIH1	SCN10A	EFL1	SAMHD1	ADAR	TCF3	FANCG	BRAF	RPL35	GNB1	RPS14	PICALM	DYNC2LI1	ANAPC1	RPS7	CEBPA	BUB1	EVC	PRKACA	PRKACB
HP_ABNORMAL_BASOPHIL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BASOPHIL_MORPHOLOGY	RUNX1	BACH2	SRSF2	TET2	ASXL1	ABL1	BCR	KIT
HP_GRANULOCYTOPENIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GRANULOCYTOPENIA	UNC13D	AK2	ELANE	RPS28	TLR8	TET2	SF3B1	TAFAZZIN
HP_APLASTIC_ANEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASTIC_ANEMIA	ELANE	ACD	XIAP	GFI1	PRF1	CD27	SBDS	PALB2	SRP72	NHP2	NOP10	FANCB	NBN	IFNG	RECQL4	CLPB	TINF2	ANAPC1	DNAJC21	TCIRG1	TERT	HOXA11	SH2D1A	SRP54	TERC	EFL1	GATA2
HP_RENAL_AMYLOIDOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_AMYLOIDOSIS	NLRP3	SAA1	COL7A1	SLC7A7	MMP1	MEFV	B2M
HP_ACUTE_KIDNEY_INJURY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_KIDNEY_INJURY	CFB	LDHA	CCND1	CORIN	CFI	ALDOA	PYGM	TCN2	CD46	SLC2A9	CFHR3	PIGA	SLC22A12	LPIN1	HELLPAR	CACNA1S	RYR1	BSND	CFH	CFHR1	SAA1	APRT	PRPS1	PKHD1	C3	MT-CO3	SLC26A1	THBD	DGKE	HNF1B	IFT140	FLT1	STAT2	MT-CO1	STOX1	DZIP1L	CLCNKB	CLCNKA	HPRT1
HP_VACUOLATED_LYMPHOCYTES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VACUOLATED_LYMPHOCYTES	FUCA1	CLN3	PNPLA2	GLB1	SLC17A5	MAN2B1	AGA	NEU1	LYST
HP_RETICULOCYTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETICULOCYTOSIS	SLC4A1	RHAG	RHD	CASK	EPB42	GCLC	PGK1	CFHR3	PIGA	PKLR	PRKCD	FAS	EPB41	CFH	CFHR1	CASP10	SEC23B	G6PD	HBB	GATA1	KLF1	HBG2	AMN	CPOX	FASLG	SPTA1	RHCE	GYPC	ADAMTS13	ANK1	KCNN4	RASGRP1	BCL11A	CDAN1	SPTB	PIEZO1	PFKM	SLC2A1	MTTP	NHLRC2	UROS	HBG1	HK1	ABCB6	CDIN1	ABCG8	CLCN7	CUBN
HP_SIDEROBLASTIC_ANEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SIDEROBLASTIC_ANEMIA	BRCA1	ABCB7	WFS1	BRCA2	FANCB	PUS1	YARS2	TRNT1	MAD2L2	FANCA	UBE2T	FANCM	FANCI	FANCE	FANCF	SLX4	FANCG	SLC25A38	ISCU	LARS2	BRIP1	ERCC4	FANCL	RAD51	RFWD3	RAD51C	XRCC2	SLC19A2	PNPO	PALB2	FANCC	ALAS2	FANCD2	HSPA9
HP_ACANTHOCYTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACANTHOCYTOSIS	MTTP	XK	CYP4F22	GATA1	PANK2	KCNN4	VPS13A	CAD	APOB	SPTB	TOR1A	SAR1B	SC5D
HP_ABNORMALITY_OF_COAGULATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_COAGULATION	UNC13D	F13A1	IRF2BP2	ITGA2B	PROS1	MGAT2	ACAD9	PROC	GATA2	THBD	FIP1L1	SERAC1	F11	LMAN1	PRF1	F13B	TERT	PTPN11	CBL	F8	PLG	HAVCR2	CFH	SSR4	RRAS2	AKR1D1	F7	ITGB2	SPTA1	ATP6V1A	SLC25A15	STAT5B	ABCC2	SPTB	EPB42	NHP2	SOS2	HMGCL	PEX3	MPDU1	ALG6	COX16	GP1BB	NOP10	PARN	OSTM1	SHOC2	PMM2	IDH1	RRAS	MRAS	STXBP2	UQCRFS1	HADH	RTEL1	TFAM	TINF2	ADK	GP9	RIT1	RINT1	LZTR1	DPM1	SLC4A1	OTC	RYR1	PRKAR1A	DPAGT1	STIM1	FLNA	STX11	ALG12	HLA-DQB1	PEX6	XIAP	GPR35	HSD3B7	SLC25A13	PEX19	VWF	NGLY1	GGCX	GP1BA	ATP6V0A2	SRD5A3	GATA6	PEX1	LYST	FGA	SERPINE1	AHCY	RFT1	GFI1B	USB1	CTC1	DKC1	PEX13	F2	DLD	KRAS	CD46	CFI	SOS1	CYP7B1	SLC37A4	NPM1	PTH1R	F12	HBB	ALG13	AGA	RARA	MPI	ALG2	FGB	MTTP	LARS1	GNA14	BCOR	EFL1	IKZF5	STAT2	TEK	PML	ITGB3	ANO6	DPM2	NR1H4	FAH	B4GALT1	ATP6V1E1	FGG	F5	NABP1	PEX11B	ZBTB16	NRAS	WRAP53	VPS33A	DDOST	COG2	PEX12	NBEAL2	AMACR	CLPB	SERPINC1	FOCAD	SERPINF2	COG4	HELLPAR	STAT3	F9	PEX5	SPRED2	PEX10	AGGF1	TCF4	MCFD2	F10	RASA2	SLC7A7	PEX2	RAF1	TYMS	HLA-DQA1	MAP2K1	ALDOB	GNE	MST1	SLC30A10	MICOS13	PEX14	CACNA1S	ABCD3	PEX16	ALG8	ORAI1	VKORC1	NLRC4	MCM10	KLKB1	HRG	HSD17B10	ANK1	SEMA4D	BRAF	MYD88	VPS33B	PGM1	NUMA1	ACD	PEX26	TRMU	GALT	PET100	IDH2	TBL1XR1	COG8	RBM8A	NBAS	TERC
HP_REDUCED_FACTOR_XI_ACTIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_FACTOR_XI_ACTIVITY	ALG8	MPI	MGAT2	SLC37A4	SOS1	LZTR1	PMM2	ALG6	ALG2	NGLY1	ALG12	F11
HP_NONSPHEROCYTIC_HEMOLYTIC_ANEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NONSPHEROCYTIC_HEMOLYTIC_ANEMIA	HBA1	HBA2	PIEZO1	KCNN4	SLC4A1	HBB	GPI	ALDOA	HK1
HP_HYPOCHROMIC_ANEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOCHROMIC_ANEMIA	FOXP3	HBB	HLA-DQB1	KCNQ1	CASP10	FAS	PUS1	C2orf69	TRNT1	ATRX	ELMO2	SF3B1	COL7A1	CD55	MMP1	IREB2	ABCD3	LPIN2	ZNF699	DAXX	TGFB1	ELF4	NAA10	HSCB	GALNT2	KARS1	WAS	APC	GATA1	KLF1	KCNE1	ALAS2	CARD10	SHPK	ABCB7	HBA1	COL2A1	CLCNKB	CLPX	BCL11A	TET2	FASLG	ALG2	FN1	TF	STK11	TAFAZZIN	OSTM1	HBA2	HBG1	TMPRSS6	HBG2	FGF23	DNAJC19	PLA2G4A	IRX5	EIF2AK3	CP	SLC12A3	HLA-DQA1
HP_SUBCUTANEOUS_HEMORRHAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBCUTANEOUS_HEMORRHAGE	DCLRE1B	UNC13D	F13A1	IRF2BP2	ITGA2B	HBA1	WIPF1	COL1A1	ANKRD26	PROS1	GATA2	FANCA	FOXE3	PRDM5	FIP1L1	COL3A1	TET2	COL5A2	C1R	MPL	TNXB	ITGA2	CFH	MYORG	SLFN14	IPO8	FANCD2	F13B	RAB27A	PROC	PTPN11	MVK	F8	TGFB2	TGFBR1	PLOD1	SLC51A	ENPP1	JAK2	MYH9	TBX1	ETHE1	ACTA2	TP53	HPS6	GP1BA	STAT5B	C2	RASGRP1	SIK3	FANCE	C1S	GP1BB	MAT2A	COL1A2	SLC39A13	FCGR2C	BLOC1S5	GDF2	HPS4	OCLN	FBN1	TGFBR2	PDGFB	RREB1	CREB3L1	STXBP2	NFKB1	SMAD4	FANCC	TERC	GP9	EPHB2	KRAS	NFIX	MAPK1	CLCN7	PRKAR1A	DSE	STIM1	CTLA4	P2RY12	ACVRL1	SLC2A10	SMAD3	LOX	PLEC	PRTN3	FKBP14	VWF	USP8	ABCC6	ICOS	RIN2	HPS1	HLA-DPB1	LYST	TREX1	FGA	SERPINE1	PRKACG	GFI1B	FASLG	WAS	LMAN1	HEY2	TGFB3	GATA1	F5	ADAMTS2	ZNF469	BLOC1S3	SMAD2	SOS1	CD81	TERT	SLC37A4	ACP5	SLC35A1	RARA	ATP7A	TBXA2R	ETV6	FGB	CDH23	SCARB2	GNA14	DTNBP1	AEBP1	CR2	USP48	BCOR	NEU1	CD19	PTEN	GSN	TNFRSF13B	GBA1	TFR2	PEPD	PML	ITGB3	GNA11	CASP10	ATRX	TNFSF11	CFHR3	FYB1	C4A	HPS3	FAS	FGG	NABP1	JAM2	PRF1	MYLK	ZBTB16	IFNG	CFHR1	HIRA	PDE8B	SLC20A2	HOXA11	NBEAL2	F7	SPRED2	SAMD9	PDE11A	ARVCF	SERPINF2	BRAF	NPM1	STAT3	NR3C1	MCFD2	MTAP	GP6	STX11	CD109	HPS5	FLNA	COMT	SH2B3	LCP2	ARL6IP6	MAP2K1	GIMAP5	F2	CALR	SEC24C	NFKB2	XPR1	CHST14	PRKACA	PRKCD	SNX10	TNFRSF13C	NTRK1	B3GALT6	SBDS	PYCR1	ORAI1	PLOD3	GNAS	MFAP5	HBA2	ADA2	CBS	FERMT3	MS4A1	ATP7B	NLRP3	RUNX1	MYH11	GGCX	EMILIN1	PRKG1	ARMC5	MYD88	TNFSF12	PDGFRB	HLA-DPA1	ENG	JMJD1C	TCIRG1	TNFRSF1A	F10	APOE	NUMA1	COL5A1	USP18	PTPN22	TBL1XR1	COG8	AIP	ELN	UFD1	PLAU
HP_PERSISTENT_BLEEDING_AFTER_TRAUMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERSISTENT_BLEEDING_AFTER_TRAUMA	FGB	F13A1	GATA1	F5	F13B	F8	SERPINF2	VWF	FGA	F9	SERPINE1	FGG	MCFD2	P2RY12
HP_MICROCYTIC_ANEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROCYTIC_ANEMIA	HBB	HBA1	WIPF1	PUS1	ATRX	C2orf69	TRNT1	SLC25A10	IREB2	LPIN2	FDX2	DNAJC19	PSMB8	HSCB	KARS1	SLC29A3	PSTPIP1	SRD5A3	CAT	KLF1	HBA2	TKFC	ALAS2	CARD10	FECH	WAS	SHPK	ABCB7	SMPD1	RIPK1	BCL11A	FARSA	ENG	GDF2	SLC35C1	AGGF1	TAFAZZIN	OSTM1	HBD	IL6ST	HBG1	SMAD4	SLC37A4	TMPRSS6	HBG2	SLC25A21	IRX5	CP	ACVRL1	TEK
HP_MICROANGIOPATHIC_HEMOLYTIC_ANEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROANGIOPATHIC_HEMOLYTIC_ANEMIA	CFHR1	CFB	ADAMTS13	CFI	CD46	C3	STAT4	IRAK1	CFHR3	THBD	CFH	HELLPAR	SPP1
HP_METABOLIC_ACIDOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METABOLIC_ACIDOSIS	SLC4A1	CYC1	ERCC6	NDUFA9	NDUFS7	NDUFA2	FBXL4	GLYCTK	UQCRB	PC	MMACHC	POLRMT	PDHA1	ATP6V1B1	NDUFV1	GSS	CPT2	CLDN16	MCCC2	PHKA2	GATM	ACADS	EHHADH	NEUROG3	LCT	OCRL	CTNS	COX6B1	PDHX	NDUFS2	CUL3	PBX1	HMGCL	NDUFB8	UQCRC2	SCO1	STX3	AARS2	MMAA	SUOX	SLC34A1	CLMP	GCDH	BCS1L	NDUFAF8	KCNJ5	JAG1	ACADVL	PCCB	HNF1B	RYR1	FH	MRPS28	WNK4	CPT1A	ACADM	VIPAS39	UPB1	NDUFAF4	RMND1	FBP1	VPS33B	KLHL3	MCCC1	GFM1	NOTCH2	NADK2	RBCK1	DLD	ALDOB	CA2	HLCS	COA8	LRPPRC	PCCA	LYRM4	TAOK1	IVD	SCO2	GALT	CA5A	MMUT	NDUFAF1	HPD	TANGO2	WNK1	FAH	C1QBP	NDUFB11	MLYCD	SCNN1A	COA6	HSD17B10	MRPS22	MTO1	ALDH6A1	COX10	EPG5	CLCNKB	NDUFAF6	RRM2B	IBA57	FOCAD	GK	HNF4A	SURF1	SLC2A2	NDUFAF3	SCNN1B	UQCC2	ATP6V0A4	NFS1	SLC25A3	CAD	AGXT	GATA3	MRPL3	PAX2	TUFM	SLC5A1	NR3C2	COX14	SLC4A4	PIGA	SCNN1G	KYNU	CACNA1S	MCEE	COQ2	TTC26	MT-TN	MMAB	DEF6	NDUFB10	AUH	BTD	MPV17	HIBCH	PDSS2	NFU1	PLVAP	PHKG2	APRT	NDUFA6	DPYS	UQCRH	PRDX1	PLPBP	PHKB	SLC37A4	PPA2	ACAT1	OGDH	MYO5B	SLC25A19	SLC52A1	PET100	PNPO	INVS	POLG2	SLC12A3
HP_DEHYDRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEHYDRATION	SLC1A3	NLRP3	CYC1	CYP11A1	ERCC6	CYP4F22	KCNJ11	ACAT1	PLAGL1	ABCC8	HYMAI	STAT3	BLNK	ZFP57	NEUROG3	CLCNKB	LAMB3	CYP11B2	SCNN1A	TGFB1	TCF3	PERCC1	GATM	AK2	PDX1	AVPR2	LCT	CDKN1B	CLPB	CLCNKA	CTNS	EGFR	CFTR	MYO5B	AQP2	ATP1A3	ABCA12	HMGCL	DBH	ALOX12B	STX3	KCNJ1	SCNN1B	MMAA	ATP6V0A4	SLC34A1	CLMP	CD79B	EPCAM	CYP24A1	UNC45A	ALOXE3	AGXT	SPINK5	PCCB	CDKN2B	GCK	HSD3B2	LRRC8A	NIPAL4	FCGR2A	IVD	ATP1A2	PKHD1	MRPS28	MMACHC	IGHM	NDUFAF6	SLC5A1	CA12	NR3C2	NARS2	LAMC2	SCNN1G	MCEE	CACNA1A	BSND	PIK3R1	MMAB	SLC12A1	VPS33B	SLC5A2	NR0B1	CDKN1A	SULT2B1	OCRL	INS	MEN1	SLC22A5	ACSF3	EHHADH	TGM1	LAMA3	PCCA	IGLL1	ACAD8	MMUT	CDKN2C	ASPRV1	SLC26A3	SDR9C7	LIPN	EIF2AK3	CD79A
HP_FEVER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEVER	NLRP3	MT-ND4	IRF2BP2	WIPF1	C2orf69	TRNT1	FIP1L1	IFNGR1	MPL	JAK2	UBA1	ZNF699	CFH	STAT6	TCF3	PRF1	RNASEH2C	MT-ND1	DOCK2	SLC41A1	TLR4	CYBC1	RAB27A	RMRP	AVPR2	POMP	KLHL7	TSC2	IFIH1	CR2	STAT5B	SLC11A1	MT-TL1	HMGCL	EIF2B3	CHEK2	EIF2B5	GALC	PTPN3	KCNJ1	WT1	TCIRG1	PMP22	CD247	CYBB	BCR	LIPA	HAVCR2	FCGR3B	RNASEH2B	SH3KBP1	VANGL2	POLR3A	IGHM	CALR	MYO1E	PRTN3	DST	MAGI2	ORAI1	RAG1	PIK3R1	PTPN2	ZFYVE19	SCYL1	MEFV	NUP205	HLA-DPB1	SCNN1A	NLRP12	SCNN1B	IKZF1	XIAP	NPHS1	SLC12A1	FOXP1	MT-ND6	XPC	HNRNPK	WAS	EIF2B4	MT-ATP6	PAX2	REL	NTRK1	TET2	LACC1	TRIM28	CACNA1S	ACTN4	TRIP13	TRPC6	AVP	AQP2	MT-TS2	IL2RA	BRCA2	HLA-DRB1	CD3D	BCOR	IL12A-AS1	MT-TQ	TMEM165	ENPP1	MT-CYB	PML	ASAH1	MT-ND5	F5	SPTBN1	NGF	NGLY1	STAT4	TLR7	CFHR3	FAH	UNC13D	PTPRC	BLNK	STXBP2	SLC12A3	CLPB	ADA	CFHR1	HLA-B	IL12B	DDB2	MLX	RANBP2	SRSF2	PKHD1	ERCC2	NUP93	EIF2B2	TBK1	BCL6	IRF8	IBA57	COQ8B	NOD2	STAT3	LPIN1	TCF4	LBR	MTHFR	TRAF3	PSAP	PTPN22	MT-TV	LSM11	PTS	ITK	SH2B3	CPT2	HBB	FBP1	HMBS	IRAK1	WDR1	RB1	IFNG	SLC5A1	SLC19A3	GCH1	NLRC4	NUP107	SH2D1A	MCM10	TP53	MT-TF	IL10	KLRC4	ABL1	SLC29A3	CD2AP	GYPC	ANK1	LYST	UQCRH	MYD88	HLA-DPA1	RYR1	NUMA1	P4HA2	UNC93B1	ERCC5	EIF2AK3	ASXL1	SMARCAL1	NCF4	CD70	P4HTM	ATM	PRSS2	ABCC6	KIT	GATA2	ANLN	SCNN1G	COL1A1	PRSS1	PRKAR1A	ATP13A2	RNU7-1	IL7R	MALT1	MVK	MT-CO3	TBC1D8B	SPTA1	CD244	IL6	ADAMTS13	H19	CEBPE	GFI1	GLA	CIITA	ABCC2	MT-TH	NCF1	SPTB	CYP11B2	EPB42	NPHS2	RAG2	EDA	ARHGDIA	TNFRSF1A	IL36RN	PTPRO	CYBA	CHD7	PSMB9	IRF4	PMM2	IL2RG	SLC4A1	CD3E	SLC34A2	ERCC3	CTLA4	CRB2	ALPK1	ERAP1	NUP37	ZFHX2	STX11	ALPL	TICAM1	HTR1A	GPR35	CCND1	EMP2	GAPVD1	STING1	SPINK1	ANKRD55	PSMB8	INF2	APOL1	SYK	DIS3L2	BACH2	ANKFY1	TH	TREX1	EIF2B1	SPP1	COG6	RBCK1	PRNP	POU6F2	PEX6	STAT1	IL2RB	RARA	SLC22A4	QDPR	CFTR	MRPS7	PSMG2	ATP1A2	BRCA1	REST	STAT2	LPIN2	LIFR	ELANE	PIK3CG	PSMB10	BCL2	MT-ND2	GAA	CTRC	RNASEH2A	LAMB3	NABP1	EPB41	ZBTB16	ELF4	TLR3	BTK	PRKCD	G6PD	H4C5	TNFAIP3	MT-CO1	AK2	TSC1	C4A	COL4A3	IL12A	XPA	ALDOA	IL23R	KRT18	PLCE1	FOCAD	GPC3	NPM1	LIG4	NCF2	BCAP31	NFKBIL1	SLC35C1	NLRP1	PSTPIP1	BIRC3	CD79B	MT-TK	SRP54	RUNX1	LRRC8A	CASK	ERCC4	MST1	CD27	NUP85	LAMC2	CCR1	RNF168	DCLRE1C	C3	NAB2	MT-CO2	MT-TW	NKX2-1	PSMB4	CACNA1A	COG7	DEF6	OTULIN	ZNFX1	MIF	ADA2	DNASE2	SAMHD1	STIM1	ADAR	MT-ND3	CRLF1	RIPK1	SEMA4D	BCL10	TSPOAP1	LAMA3	NUP160	RNU4ATAC	IGLL1	UBAC2	ACAT1	NUP133	ELP1	HEPHL1	BTNL2	TBL1XR1	NAXD	ARHGAP24	KIF1B	FAS	CD79A	DAAM2	CYP21A2
HP_KETOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KETOSIS	ACADM	PAX4	OXCT1	CYC1	CIDEC	INS	FBP1	SLC25A4	BCKDHA	ACAT1	SHOX	ABCC8	SUGCT	GYS2	ZFP57	MLYCD	PPP1R15B	INSR	IL6	MCCC2	PHKA2	MMAB	KCNJ11	DBT	KARS1	ATP5F1D	HNF4A	SLC5A2	BTD	PLAGL1	COX6B1	RRM2B	DLD	PHKG2	POLR3K	CLCNKB	ACSF3	GK	POLG2	LYRM4	SLC37A4	BCKDHB	PYGL	GHSR	PTPN22	ITPR3	MMAA	TWNK	GCDH	CA5A	SLC16A1	HYMAI	MMUT	POLG	TRMT10A	MRPL3	EIF2AK3	IVD	HNF1A	SLC12A3
HP_RENAL_TUBULAR_ACIDOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_TUBULAR_ACIDOSIS	SLC4A1	CPT1A	NDUFAF6	FBXL4	SLC4A4	PC	SURF1	FAH	POLRMT	PIGA	ATP6V1B1	KYNU	VIPAS39	COQ2	CLDN16	PHKA2	MT-TN	CTNS	GATM	RMND1	HNF4A	OCRL	VPS33B	PDSS2	NOTCH2	NADK2	ALDOB	EPG5	PHKG2	HNF1B	CLCNKB	CA2	NDUFS2	RRM2B	COA8	EHHADH	NDUFB8	PHKB	TAOK1	SCO2	SLC2A2	NDUFAF3	UQCC2	ATP6V0A4	SLC34A1	CAD	JAG1	GATA3	BCS1L	SLC12A3
HP_ALKALOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALKALOSIS	SLC25A15	NR3C1	ASS1	CACNA1D	CLCNKB	HSD11B2	SCNN1B	KCNJ10	HLA-B	KCNJ5	SLC12A3	BSND	SCNN1A	KCNJ1	SCNN1G	ASL	CLCNKA	SARS2	CA5A	CYP17A1	IKZF1	CPS1	SLC12A1	NARS2	AIP	USP8	OTC	SLC26A3	CLCN2
HP_HYPOKALEMIC_ALKALOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOKALEMIC_ALKALOSIS	KCNJ1	HSD11B2	CLCNKA	SCNN1B	CYP17A1	KCNJ10	HLA-B	IKZF1	SLC12A1	SLC12A3	BSND	CLCNKB
HP_RESPIRATORY_ALKALOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESPIRATORY_ALKALOSIS	SLC25A15	CPS1	ASS1	OTC	ASL	CA5A
HP_GLUCOSE_INTOLERANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLUCOSE_INTOLERANCE	FOXP3	PAX4	MT-ND4	CIDEC	SPINK1	FSCN2	NDUFB10	VPS37D	RGR	IDH3A	PRPF4	MC4R	MT-ND6	BRCA1	ZBTB20	DLK1	LMNA	ZFP57	GJA1	IL6	RTL1	AIP	TERT	DNAJC3	RNASEH2C	CNOT1	PRPF31	MT-TK	MT-ND1	PDX1	HFE	MT-TC	PPARG	TP53	APPL1	SLC7A14	PEX10	PCARE	CTNS	MAGEL2	RRM2B	CASR	HNF1A	EYS	CELA2A	MT-TL1	DISP1	PPP1R3A	CNBP	PARN	BBS2	REEP6	PCBD1	NUBPL	HYMAI	DCAF17	PNPLA2	KCNJ11	POLG	SLC30A8	CYP19A1	HNF1B	FCGR3B	ENPP1	RNASEH2B	MT-CO1	VANGL2	POLR3A	HLA-DQB1	BLK	IGF2BP2	MLXIPL	ALMS1	MTX2	ARL3	LRBA	NDUFS7	NDP	IMPG1	ABCC8	USP8	RP2	MEN1	CLRN1	LEPR	CTNNB1	MT-ND5	NDUFA11	GATA6	FKBP6	AGBL5	CPA1	ARNT2	LIPC	CRB1	NDUFA1	CTC1	POLG2	PCNT	DNMT1	SOX3	PRPH2	RPE65	WRN	FOXP1	NPM1	NDUFV2	MT-TS2	MMP14	HBB	MT-TW	WT1	TTC8	CDH23	CEP19	PLCD1	CLIP2	PIK3R1	SLC37A4	INSR	USP48	XRCC4	CAVIN1	ESR1	SPI1	DHDDS	PEX6	NDN	MT-TQ	NR2E3	IGKC	DUT	PROK2	NDUFS4	NDUFAF2	SLC25A4	BMP6	GCK	SPATA7	SNORD115-1	TULP1	OPA1	SNRNP200	NEUROG3	TTPA	PWRN1	BRCA2	EDA2R	NDUFV1	GJB3	ARHGEF18	IGF1R	WRAP53	PDE8B	PWAR1	HNF4A	SEMA4A	KRAS	SRP54	FGFR1	PNPLA6	PDE6A	ZIC2	NEUROD1	SLC40A1	PRKAR1A	TMEM126B	CLCNKB	RAC1	NRL	MEG3	FXN	CISD2	CTRC	USH2A	TCF4	SIX3	MTHFR	ROM1	WFS1	PTRH2	LSM11	CA4	NDUFAF1	TLR8	ZNF513	GATA3	RP1L1	RLBP1	TRMT10A	MT-TE	BLM	SIM1	NDUFS1	BAZ1B	OCA2	ELN	BMP2	CCDC28B	HLA-DQA1	AMACR	AKT2	BEST1	FUZ	SNRPN	LHX1	LMF1	IL18BP	NOTCH3	ATRX	ATM	IMPDH1	KLHL7	PRPF8	PRKACA	ELMO2	PRSS1	FOXH1	EIF4H	DNM1L	NAA10	HAMP	BSCL2	CAT	EFL1	MT-TF	AIRE	THRB	SLC29A3	AHI1	CARS1	KIZ	NSMCE2	HLA-DRB1	NDUFS6	NDUFAF3	MERTK	ARMC5	NKX2-5	COL2A1	YIPF5	EDA	GPD2	CRX	MOG	TOPORS	KLF11	PDE6B	LEP	STUB1	POLA1	NDUFAF4	GPR101	IFT140	PTF1A	CAV1	MAK	SLC2A2	EIF2AK3	POMGNT1	TERC	SLC12A3	CERKL	RP1	ITCH	PRSS2	IARS1	TGIF1	EIF2S3	FAM161A	CP	MT-CYB	ZNRF3	GUCA1B	STAT1	MKRN3	FOS	SUFU	HJV	ZMPSTE24	PRPF6	RNU7-1	MT-ATP6	SCAPER	TUB	METTL27	AR	PAX6	RDH12	PLAGL1	TWNK	IMPG2	PI4KA	MT-CO3	MT-TH	POLD1	NHP2	MKKS	INS	GTF2IRD1	IL2RA	NOP10	PTPN22	NODAL	FBN1	SMPD4	HMGA1	POC1A	GLIS3	TINF2	PRPF3	RBP3	SLC19A2	IRS1	PDE6G	GCGR	PROKR2	RTEL1	CPE	PLIN1	KIAA1549	VANGL1	BCL7B	GPR35	IFT172	ABCA4	CFTR	NCF1	TKT	NEK2	APOA5	MAPK8IP1	MT-TV	PSMB8	PPP1R15B	CEL	CDKN2A	RP9	ABCB4	UBR1	NDUFA6	BRAF	SARS2	OFD1	TCF7L2	RFC2	USB1	TBL2	RABL3	IRS2	PROM1	SHH	GTF2I	CDHR1	NDUFS8	NDUFB9	PTCH1	ITPR3	HERC2	TREX1	DYRK1B	MTNR1B	DMXL2	DLL1	ARL6	FGF8	LRP6	STX1A	NDUFB3	LRAT	DNAJC30	NPAP1	PTPN1	IFT88	MAFA	TTC7A	PALB2	NDUFS2	STAT3	CNGA1	RNASEH2A	IER3IP1	CNGB1	NDUFAF8	NDUFAF5	LMNB2	ZFYVE26	LIG4	HMGA2	SNORD116-1	AEBP1	MT-ND3	TIMMDC1	TRMT5	FLT1	LIPE	SBDS	HESX1	GLI2	PRCD	FOXRED1	PDE11A	GJB4	SOX2	CFAP418	DKC1	APOE	RETN	PALLD	NR3C1	FOXC2	PSTPIP1	BBS1	BUD23	PDE4D	ARL2BP	MMP2	ZNF408	MT-ND2	TYMS	MIA3	CORIN	SAG	SLC5A1	NDUFS3	MST1	GLRX5	AGPAT2	OTX2	SMAD4	NSD1	TDGF1	MT-CO2	KCTD1	DNAJC21	HGSNAT	KDSR	LEMD3	GTF2IRD2	LIMK1	IFIH1	RHO	ADA2	CDON	DNASE2	SAMHD1	IGHG2	ADAR	ALAS2	IDH3B	STOX1	DHX38	TOM1	TMEM270	FMR1	SEMA4D	PEX1	SIN3A	GAS1	NDUFB11	GNAS	RPGR	AHR
HP_DIABETIC_KETOACIDOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIABETIC_KETOACIDOSIS	ABCC8	CIDEC	INS	KCNJ11	ZFP57	CLCNKB	INSR	PLAGL1	HYMAI	SLC12A3
HP_RECURRENT_FEVER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_FEVER	HNRNPK	LACC1	ASAH1	C2orf69	TRNT1	SPTBN1	NGF	TLR7	STXBP2	SLC12A3	ADA	UBA1	MVK	PRF1	ELF4	IFIH1	DOCK2	PRKCD	SLC29A3	SLC41A1	H4C5	TNFAIP3	MEFV	CEBPE	IBA57	CYP11B2	FOCAD	IL2RG	NOD2	BCAP31	SLC35C1	NLRP1	TNFRSF1A	GALC	ELANE	PSMB9	PMP22	PTS	ITK	NLRP3	ALPK1	SH3KBP1	ZFHX2	STX11	HBB	XIAP	LIFR	WDR1	STING1	RNF168	C3	ORAI1	PSMB8	NTRK1	SYK	PSMB4	COG7	GCH1	NLRC4	DEF6	OTULIN	NLRP12	SH2D1A	ZNFX1	ADA2	DNASE2	STIM1	COG6	RBCK1	PEX6	CRLF1	RIPK1	REL	RNU4ATAC	QDPR	ELP1	PSMG2	HEPHL1	NAXD	STAT2	LPIN2	CD70	CYP21A2
HP_UNEXPLAINED_FEVERS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNEXPLAINED_FEVERS	NTRK1	GALC	NKX2-1	PSAP	RNASEH2C	TREX1	LSM11	RNU7-1	IFIH1	AVPR2	LAMA3	LAMC2	TMEM165	SAMHD1	ADAR	RNASEH2A	LAMB3	RNASEH2B	AQP2
HP_TRUNCAL_OBESITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRUNCAL_OBESITY	BRD4	CREBBP	RAD21	SLC10A7	MAN1B1	ALMS1	EP300	GJA5	AKT2	ATRX	PHF6	MC4R	PCNT	ZBTB20	USP8	PSMD12	RTL1	LAS1L	NIPBL	RNPC3	PDE11A	XYLT1	IGF1R	XRCC4	GNAS	IGF1	GJA8	IGFALS	MEG3	INPP5E	SLC7A7	TP53	POMC	HDAC8	THOC2	BBS9	ARL6	DLK1	BRAF	PIGA	PRKAR1A	GHR	SMC3	WAC	NR3C1	TRAPPC9	PCSK1	CDH23	BBS1	SMC1A	DYRK1B	USP48	VPS13B	ADNP	BPTF	CCDC28B	FMR1
HP_NONKETOTIC_HYPOGLYCEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NONKETOTIC_HYPOGLYCEMIA	WNT9B	GREB1L	ACAD9	ITGA8	ACADVL	HMGCL	AKT2	GFRA1	FGF20	YY1	RET	CPT2	MEN1
HP_HYPOKALEMIC_METABOLIC_ALKALOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOKALEMIC_METABOLIC_ALKALOSIS	KCNJ1	HSD11B2	CLCNKA	KCNJ10	HLA-B	IKZF1	SLC12A1	BSND	CLCNKB
HP_HYPOPLASTIC_HEART	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_HEART	GATA5	CPLANE1	CCDC22	CREBBP	DVL3	CDK8	TBX5	MKKS	EP300	H3-3B	GJA1	NADSYN1	GATA4	TRAF7	TBX1	HAAO	FOXF1	FLI1	KYNU	B3GLCT	GNB2	STAG2	WASHC5	ARHGAP31	MCTP2	WT1	DTNA	GATA6	COQ4	NR2F2	CHRNA1	MYRF	NKX2-5	CHRNG	SMAD6	ZIC3	ATP6V1A	TMEM218	CIROP	SPOP	PAH	PKD1L1	CTU2	NOTCH1	CFAP53	CHRND
HP_PALPITATIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALPITATIONS	MYL3	CDH2	TBX20	SDHB	CACNA1S	GATA6	SLC25A4	KCNJ11	KCNJ5	VHL	MYOZ2	ZNRF3	CITED2	SLC12A3	PRKAR1A	JUP	PKP2	ISCU	TMEM127	TERT	DSG2	MDH2	DNMT3A	DTNA	KCNH2	CAV3	RET	KCNJ2	RRM2B	CLCNKB	FH	SDHC	KCNJ18	SLC25A11	CNBP	GYG1	EPAS1	TP53	NPPA	MEN1	KCNQ1	UCP2	KIF1B	TECRL	TWNK	MAX	MYL2	HNF1A	GCGR	PNPLA2	POLG	ACTC1	CTNNB1	KCNA5	SLC4A3	SCN5A	SCN9A	ADAMTS19	PRKAG2	TLL1	JPH2	MYH6	ABCC8	MYL4	DSC2	DAXX	TMEM43	NKX2-5	CDKN2A	BVES	YY1	CCND1	SDHD	NF1	POLG2	CDH23	SDHA	CACNA2D1	KCND3	ATRX	GATA4	EMD	DLST	SDHAF2	GABRA3	KCNE2
HP_APLASIA_HYPOPLASIA_OF_METATARSAL_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_METATARSAL_BONES	VPS35L	TP63	LMBR1	FLNB	GNAS	RIPK4	CDC42BPB	FGFR2	FGFR1	HOXA13	HOXD13	PRKAR1A	HINT1	PDE4D	FLNA	EP300	PRMT7	BMPR1B	COL2A1	GDF5	WNT7A	KNSTRN	IFT52	MAP3K7	HDAC4	CANT1	TRPV4	TCF4	LZTFL1	NPR2	COG4	FAT4	IFT140	SIL1	SLC26A2	SALL1	TRPS1	SMARCA2	TWIST1	EZH2	PEX7	RAB33B	PRKG2	PHYH	CHSY1	PIGS	DCHS1	POC1A	B3GLCT	FIG4	VPS13B	DYM	PORCN	HEPHL1	ZNF407	PIK3CD	KCNJ2	RSPRY1	FBN1	PTHLH	SRY	RBPJ
HP_ABNORMAL_SCALP_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SCALP_MORPHOLOGY	UBA2	LRP2	CHRNG	KAT6B	ODC1	TMCO1	HS2ST1	NHP2	ZBTB20	LMNA	GNE	ZNF699	ZIC1	MEOX1	IPO8	SMARCB1	WASHC5	PTPN11	KRAS	SMARCE1	SETD2	SALL4	PIGK	FGFR2	RPS24	IFT140	PGAP1	SPATA5L1	COL17A1	MEGF8	SPOP	TCF12	NSD2	EDEM3	VPS51	COL18A1	SPECC1L	RPS27	ADA2	TWIST2	SMARCA4	KCNN3	PHF8	NOP10	TBL1XR1	LIG4	RPS28	XYLT2	EXT1	B4GALT7	SLC39A4	AXIN2	RRAS	PCNT	RTEL1	SMC1A	EDARADD	TINF2	RIT1	ARID1B	VPS33A	HSPG2	RPS29	CREBBP	POLR3A	LZTR1	RPL35A	TRPS1	CHN1	LIPH	SNRPE	KRT74	GDF6	USP8	SMO	STAG2	GMPPA	KNSTRN	PACS1	APC	IGF1	GTF2E2	APC2	ARID1A	HLA-DRA	TRIO	NTRK1	WRN	SMARCD1	PRDM13	CDH23	RECQL4	ATP6V1B2	SLC27A4	AEBP1	FIG4	CDH2	USP48	XRCC4	ZC4H2	CAVIN1	USB1	SPEN	PEX6	MAFB	DPF2	MID1	LPAR6	H1-4	PPP1CB	SRY	SVBP	DPM2	RAD21	PCGF2	CCNK	SLC9A7	LETM1	CPLX1	KDM4B	EBP	MAF	KRT17	ERMARD	DHX30	NUDT2	JUP	UROD	PTDSS1	MED12	NRAS	ADNP	GNB2	FGFR3	SLC25A24	RPL26	BRAF	IGF1R	MEIS2	ABCC9	POLR1D	ITGB4	ATR	TCOF1	COL3A1	INTU	ARHGEF2	SOX11	FRMD4A	SPRED2	ALG12	MAP2K2	CWC27	TBC1D20	NOTCH3	ACTB	FLI1	MADD	NSD1	ALX3	TTC5	SLC35C1	FKRP	CDSN	RPS19	ADARB1	ANTXR1	CDK13	CCDC22	MGAT2	SPINK5	TRMT10A	POLR1B	COG7	VAC14	ASXL1	RPS15A	PARN	MBTPS2	EP300	LSS	NOTCH2	ATRX	MAN2B1	ATRIP	HRURF	RBL2	CPOX	HUWE1	BSCL2	RHOA	CBS	SLC29A3	RBBP8	OCRL	FAS	SMARCA2	KCNH1	SRCAP	MSX2	ALG11	DSG4	KANK2	MYH3	ACD	THOC6	PEPD	RPS7	SOS1	CAV1	GJB2	NFIX	PLEC	CNOT3	CEP152	BRD4	DCLRE1B	EIF5A	SH2B1	ITGA3	CLCN3	TSC1	SHOC2	B3GALT6	COG5	FOS	KIFBP	CDH3	POLR1C	RAB18	RPS26	NANS	FGD1	CBL	RNU12	SLCO2A1	CTBP1	GATA1	RRAS2	ECM1	CDH1	HYOU1	MBD5	DSC3	DPH1	SATB1	TP53	HDAC8	PI4KA	WNT4	DCLRE1C	HPGD	CDK5	FGFRL1	EFNB1	NDE1	SPRED1	KREMEN1	PEX19	KDM1A	MRAS	SMPD4	UROS	RPL15	GTF2H5	RPL11	MAPK1	ACTG1	FLNA	LRPPRC	SOX18	TECPR2	MAPRE2	TRAIP	RPL27	VPS13B	KLHL24	HR	COL7A1	AIFM1	TWIST1	PPP1R15B	MPLKIP	PPARG	RERE	DLX4	EPS8L3	UBR1	SIN3A	PIK3CD	ALX4	RPS10	DKC1	UBE2A	PKP1	SMARCC2	APCDD1	NEPRO	DOCK7	IFIH1	AHSG	PIGG	DOCK6	RALGAPA1	DEAF1	PIK3C2A	UGP2	PRKD1	RAB3GAP2	WNT10A	TSPEAR	GDF3	TP63	BICRA	TFAP2A	RPL18	NELFA	CENPE	CENPJ	RPL31	HEATR3	RPL5	TBC1D24	ERCC3	NSUN2	TBX2	SLC12A6	TTC7A	CDC42BPB	NOVA2	ADAM17	NIPBL	RIPK4	H4C5	PTPN22	RIN2	CACNA1C	SETD5	TAF6	SOX4	MYO18B	SOS2	NUP85	BRCA1	ITGB6	H3-3A	TARS1	ALDOA	KRT14	TSR2	INSR	LAMB3	TERT	CHST3	ALX1	GDF11	SMC3	KCNJ8	NR3C1	HDAC4	NBN	SYT1	ASH1L	CARS1	KRT25	GJB6	EGFR	RPL21	RASA2	CST6	IRX5	RAF1	BANF1	GJA1	MAP2K1	RAB3GAP1	RPS20	ARID2	FRAS1	ERCC2	STT3A	RNF113A	EMC1	CLDN1	MMP1	DPH2	ANKRD11	KCTD1	PLK4	LAMA3	ANKRD17	RPS17	HTRA1	MED13L	CRIPT	SCNM1	NECTIN4	NF1	TBX15	WLS	PEX1	RPL35	MAB21L1	B3GAT3	RNU4ATAC	ARX	MED25	ALG9	LMX1B	LAMC2	AGPAT2	WBP11	MAP3K7
HP_ABNORMAL_GLOMERULAR_MESANGIUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GLOMERULAR_MESANGIUM_MORPHOLOGY	TP53RK	NPHS1	MYO1E	GON7	EMP2	ANLN	GAPVD1	NUP85	SGPL1	SPRY2	OSGEP	MAGI2	ADA	INF2	APOL1	ANKFY1	NUP205	NUP107	COL4A3	TBC1D8B	LAMB2	CD2AP	NUP93	PAX2	PLCE1	WDR73	CD81	AVIL	COQ8B	NPHS2	ACTN4	WT1	COPA	ARHGDIA	NUP160	TRPC6	COQ6	YRDC	FN1	PTPRO	APOE	NUP133	KIRREL1	ARHGAP24	CRB2	NUP37	DAAM2
HP_TUBULOINTERSTITIAL_NEPHRITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TUBULOINTERSTITIAL_NEPHRITIS	FOXP3	ALMS1	CLCNKB	MUC1	IFT122	CEP83	PUS3	COQ2	TRAF3IP1	HLA-DRB1	FOXC2	CPT2	SLC30A9	FAN1	BCS1L	MMUT	BTNL2	SLC7A7	PDSS2	MRPL3	INVS	DPH1	WDR19	SLC12A3
HP_HYPERSPLENISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERSPLENISM	HBB	RUNX1	ITCH	RASGRP1	SMPD1	MED12	PRKCD	FAS	GBA1	LIPA	NOTCH1	SCARB2	PSAP	CASP10	TET2	PKHD1	SRSF2	CBL	FASLG	DZIP1L	ASXL1	TULP3
HP_MACROCYTIC_ANEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACROCYTIC_ANEMIA	RPS29	RPS20	HLA-DQB1	PHGDH	RHD	MMACHC	RPS7	LMBRD1	SLC46A1	RPL27	RPL35A	SFXN4	AMN	CUBN	FTCD	UBA1	TCN2	MTRR	DNAJC21	SLC19A1	RPS26	DNM1L	GATA1	TET2	RPL26	RPS17	OPA1	RHAG	RPS24	EFL1	SRP54	MMADHC	RACGAP1	SLC19A2	CBLIF	ALAS2	RPS10	HPRT1	SBDS	RAC2	RPL5	RHCE	COX10	UMPS	TSR2	WFS1	DHFR	MTR	RPS27	PSMC1	ADA2	CDAN1	TPI1	RPL35	KCNN4	PRDX1	RPS28	RPS14	PIEZO1	SLC4A1	RMRP	LARS1	RPS19	RPL15	RPL18	MTHFD1	RPL11	RPL31	KIF23	RPS15A	HLA-DQA1
HP_AUTOIMMUNE_THROMBOCYTOPENIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AUTOIMMUNE_THROMBOCYTOPENIA	FOXP3	PNP	CASP10	FAS	RASGRP1	LRBA	NFKB2	ACP5	TLR7	SOCS1	PRKCD	STAT1	LAT	ADA	RFX5	STAT3	SASH3	ICOS	TNFRSF13C	TPP2	IRF2BP2	RFXAP	KDM6A	KMT2D	MS4A1	FASLG	CD81	TOM1	SMPD1	TNFSF12	ARHGEF1	CTNNBL1	GALC	NRAS	NFKB1	RFXANK	CR2	ITK	CD19	TNFRSF13B	ZAP70	CTLA4	CIITA	KRAS	IL7R	MAGT1
HP_LEUKOCYTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEUKOCYTOSIS	PML	ELANE	PIK3CG	EXTL3	CD247	LACC1	CASP10	IRF2BP2	ANKRD26	FAS	FOXP3	SREBF1	IKBKG	CARD11	SF3B1	KIT	GATA2	FIP1L1	PTPRC	IFNGR1	CLPB	ADA	NABP1	IRF8	OAS1	MVK	DOCK8	ZBTB16	LMNB2	ELF4	IPO8	TLR3	PDGFRB	PRKCD	PIK3CD	LIG4	WAS	G6PD	IL7R	PRSS2	HBB	RMRP	SALL4	SPINK1	SRSF2	ITGB2	IL37	PKHD1	RAC2	ASXL1	JAK2	TP53	RBM8A	CASR	STAT5B	DCLRE1C	TBK1	RAG1	GFI1	RASGRP1	RAG2	FOCAD	BRAF	HMGCL	NPM1	STAT3	SLC35C1	NLRP1	TET2	NR3C1	HLA-DRB1	CTRC	IL36RN	OSTM1	CHD7	TRAF3	BCL11B	NHLRC2	TCIRG1	TRAC	BCR	SRP54	RUNX1	IL2RG	PDGFRA	CD3E	CARD9	PRKAR1A	ZAP70	ZNF341	TICAM1	CDSN	NCKAP1L	CASK	SLC46A1	CALR	CFTR	ATRX	MICU1	SPINK5	NLRP3	USP8	IFNG	LPIN2	PRSS1	PGM3	MEFV	TGFB1	SLC27A4	IL6ST	OTULIN	NLRP12	XIAP	SH2D1A	CPA1	RNASEH2B	CBL	ADA2	FERMT3	ARPC1B	ABL1	RBCK1	FASLG	REL	TBX21	CAPN3	JAK1	ZPR1	TNFRSF1A	RARA	RNU4ATAC	CDH23	NUMA1	NRAS	ACAT1	TTC7A	CD3D	USP48	BCOR	XRCC4	MPL	UNC93B1	BTNL2	TBL1XR1	EIF2AK3	KRAS	STAT2
HP_REDUCED_ANTITHROMBIN_III_ACTIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_ANTITHROMBIN_III_ACTIVITY	ALG8	SERPINC1	DPM2	MGAT2	SLC37A4	SRD5A3	PMM2	DPM1	B4GALT1	PGM1	AHCY	DPAGT1	ALG6	MPI
HP_ABNORMAL_THROMBOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_THROMBOSIS	PML	CBS	IRF2BP2	PROS1	PRSS2	ADA2	PROC	MMACHC	THBD	FIP1L1	CD55	IL10	TET2	CTRC	LIPA	NABP1	UBA1	ZBTB16	PRSS1	NOTCH1	HLA-B	PRKAR1A	TLR4	TP53	MT-CO3	GNAQ	C4A	CFH	SPINK1	THPO	IL12A	JAK2	STAT4	CASR	STAT5B	IL23R	SERPINC1	TNNT2	CALR	MEFV	PTEN	KCNN4	FCGR2C	NPM1	GDF2	HELLPAR	FLNC	STAT3	HLA-DRB1	MPL	LPIN1	SH2B3	AGGF1	F13A1	NPPA	IDH1	PTPN22	AKT1	NFS1	SMAD4	MYH9	PDE4D	FGA	PMM2	PDGFRA	CTLA4	ERAP1	ACVRL1	HBB	SCN5A	MPI	SLC2A10	CFTR	BMPR2	MYH7	PRTN3	PIGA	KIF20A	PIEZO1	KCNQ1	CCR1	MTHFR	MTRR	IFNGR1	TLL1	TGFB2	NLRC4	HLA-DPB1	TTR	CPA1	KIF11	RFT1	KLRC4	HRG	RHAG	F5	FGB	FGG	F9	CD46	CFI	PIGM	MET	HLA-DPA1	PTH1R	RASA1	ENG	PDE11A	PRDX1	F12	PGM1	CTNNB1	RARA	UBAC2	VHL	EPOR	NUMA1	SAA1	SLC4A1	P4HA2	F2	BCOR	EPAS1	IDH2	SERPIND1	TBL1XR1	RYR1	ALG6	IL12A-AS1	CITED2	PRORP	IL6ST	F8	MYPN	FAS	MT-CO1	MT-CYB	TNNI3	HABP2
HP_EXTRAMEDULLARY_HEMATOPOIESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXTRAMEDULLARY_HEMATOPOIESIS	HBB	TNFSF11	ANK1	CA2	CALR	VPS45	SPTB	MPL	EPB42	TET2	SLC4A1	RBM10	AKR1D1	FERMT3	SPTA1	FGFR2	JAK2	OSTM1
HP_SCHISTOCYTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCHISTOCYTOSIS	CFHR1	PIEZO1	SLC4A1	ADAMTS13	SLC19A1	TRNT1	CAD	CDAN1	CFHR3	KCNN4	SC5D	KLF1	CFH
HP_SEA_BLUE_HISTIOCYTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEA_BLUE_HISTIOCYTOSIS	NPC1	APOE	SMPD1	GLB1	NPC2
HP_HYPOKETOTIC_HYPOGLYCEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOKETOTIC_HYPOGLYCEMIA	UCP2	HADHA	HADH	KCNJ11	SLC25A20	HNF1A	CPT1A	HNF4A	HADHB	AKT2	ACADVL	ABCC8	CPT2	DOLK	GCK
HP_HYPERTONIC_DEHYDRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTONIC_DEHYDRATION	AVPR2	SPINK5	SLC5A1	CA12	AQP2
HP_HYPERAMMONEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERAMMONEMIA	ACADM	TMEM70	CYC1	GLUL	CPS1	MMACHC	NAGS	NR1H4	ASS1	TUFM	HLCS	AASS	TANGO2	SLC25A13	ACAD9	HADHA	CARS2	PCCA	CPT2	SLC25A15	SERAC1	TSFM	GLUD1	MCCC2	MMAB	HSD17B10	SLC25A20	ATP5F1D	ACADVL	MCCC1	BTD	PDHB	ARG1	COX6B1	SLC7A7	DLD	MECP2	PCCB	GOT2	OTC	NDUFA6	SLC22A5	ALG11	UQCRH	FOCAD	HMGCL	MRM2	UQCRC2	MARS1	MMUT	MMAA	ACAT1	HADH	SLC25A42	ASL	CA5A	RINT1	CAD	CPT1A	HADHB	EIF2AK3	NBAS
HP_RECURRENT_HYPOGLYCEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_HYPOGLYCEMIA	UCP2	STAT6	KCNJ11	SLC22A5	BCS1L	MC2R	HMGCL	PAK1	INSR	MRAP	MPV17	PHKB	YY1	MEN1	ALG12	NAB2	PPP1R15B	NFKB2	GCK
HP_FETAL_AKINESIA_SEQUENCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FETAL_AKINESIA_SEQUENCE	KBTBD13	KLHL41	RYR1	KLHL40	RAPSN	DOK7	CHRNA1	MUSK	CHRNG	CNTN1	NEB	GLE1	MAGEL2	MYOD1	MYPN	NEK9	NUP88	PIGS	TPM3	ZC4H2	ACTA1	ATP1A2	GBA1	PHGDH	TPM2	SLC18A3	KIF5C	DPAGT1	TUBA1A	CNTNAP1	CHRND	LGI4	TRPV4
HP_APLASIA_HYPOPLASIA_OF_TOE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_TOE	BMPR1B	EOGT	SVBP	SOX9	LMBR1	GRIP1	NEK1	HBA1	LETM1	ALMS1	MYCN	CPLX1	IFT122	WNT7A	ARSL	WNT10B	TNNT3	ACVR1	FGFR1	FIG4	EP300	ADA	FGFR3	GLI3	GPX4	COL2A1	RIPK4	HDAC4	ABCC9	IL7R	DLX5	RMRP	SALL4	EIF4A3	OFD1	TRPV4	CTBP1	NSD2	IFT140	SLC26A2	DLL4	SALL1	NOG	FLNA	ARID1B	CHSY1	HOXD13	GPC4	FGFRL1	RAG2	TBX3	DNMT3A	PUF60	SMOC1	LMNA	RBPJ	ARHGAP31	KCNN3	LIG4	BMP2	TBL1XR1	ALOX12B	KCNJ8	GPC3	DOCK6	KAT6A	LRP4	HOXA13	RAG1	CHD7	B3GLCT	BHLHA9	PDE4D	IHH	SF3B4	FGFR2	IL2RG	VAC14	GDF5	ASXL1	GJA1	PHF6	RAB3GAP2	MIA3	ZMIZ1	WASF1	NOTCH1	NOTCH2	SPECC1L	PRKAR1A	FLI1	DCLRE1C	DHCR7	MAP3K20	MGP	PIGV	TBX22	PIGF	BPNT2	C12orf57	DYRK1A	NPR2	SMAD4	HBA2	KCNH1	ADAMTS2	PRKG2	SHOX	NSDHL	GHR	PIGG	CHST11	COX4I1	RNU4ATAC	GNAS	APC	PORCN	NELFA	ASAH1	PTH1R	DACT1	ALOXE3	HEATR3	KMT2A	ROR2	PTHLH
HP_ORGANIC_ACIDURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORGANIC_ACIDURIA	HLCS	ABCD4	TCN2	ACAD9	MMACHC	GCDH	POLRMT	HPD	DNAJC19	MLYCD	MVK	CPT2	ETFA	ALAD	MCCC2	IDH1	SLC25A20	GRHPR	ACADS	UROC1	L2HGDH	ALDH6A1	CPOX	LMBRD1	SUCLG1	ETHE1	RET	SLC25A4	PCCB	NDUFS4	HOGA1	HCFC1	FOCAD	FLAD1	SCO1	LETM1	MCCC1	COX16	GATA1	SLC25A1	MMAA	UROS	HADH	ALDH5A1	CPT1A	PPOX	AGXT	SLC26A1	POLG	ACADM	OXCT1	HFE	SLC18A2	HMBS	SLC52A2	GATM	SUGCT	CD320	DHTKD1	MCEE	PCCA	ETFDH	HGD	MMAB	NDUFB10	ACADVL	MMADHC	BTD	NADK2	NFU1	SLC22A5	ETFB	ACSF3	IDH2	PRDX1	TAT	SLC13A3	ACAD8	PEX1	SUCLA2	MPC1	TRMU	SLC25A19	HMGCL	SLC52A1	MMUT	D2HGDH	KIF1B
HP_KETOACIDOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KETOACIDOSIS	PAX4	OXCT1	CYC1	DLD	CIDEC	CLCNKB	INS	INSR	ACAT1	SHOX	ACSF3	GK	ABCC8	SUGCT	BTD	ZFP57	KCNJ11	PTPN22	ITPR3	IL6	MCCC2	ATP5F1D	CA5A	SLC16A1	HYMAI	HNF4A	MMUT	MRPL3	EIF2AK3	IVD	PLAGL1	HNF1A	SLC12A3
HP_RENAL_FANCONI_SYNDROME	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_FANCONI_SYNDROME	MT-TN	CTNS	CLCNKB	RRM2B	COA8	SURF1	HNF4A	FAH	POLRMT	PIGA	OCRL	HNF1B	BCS1L	SLC12A3
HP_HYPERCHLOREMIC_ACIDOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERCHLOREMIC_ACIDOSIS	SLC4A1	WNK4	GATM	SLC34A1	NDUFAF6	GALT	CUL3	SLC4A4	WNK1	NEUROG3	EHHADH	CTNS	KLHL3
HP_GOUT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GOUT	HPRT1	ANK1	CLCNKB	MUC1	SPTB	APOE	EPB42	SLC37A4	UMOD	PFKM	SEC61A1	HNF1B	PRPS1	SLC4A1	G6PC1	LRP6	SPTA1	DNAJB11	SLC12A3
HP_NEONATAL_HYPOGLYCEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_HYPOGLYCEMIA	GFM2	HNF4A	CYP11A1	KCNJ11	BLK	H19	YARS1	IGF2	GCK	EBP	CIC	KDM6A	AKT2	NSD1	GYS2	HTRA2	WARS2	OTX2	CEL	FBP1	MSL3	PROP1	SETD2	TBX19	CDKN1C	APPL1	CLPB	SLC25A20	NEUROD1	APC2	COX10	KLF11	MTOR	HNF1A	MADD	DBH	INS	HERC1	HADH	ABCC8	PAX4	KCNQ1OT1	PET100	PRKAG2	KCNQ1	HSD3B2	DNAJC19	PDX1
HP_ABNORMAL_FACIAL_SHAPE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FACIAL_SHAPE	MGP	ARSB	VPS37D	PHF21A	APC2	BMP1	HS6ST2	CTCF	HS2ST1	CPLANE1	GNE	ZNF699	FAT4	SMARCB1	NDUFB11	TPM2	PTPN11	ALDH18A1	ALG1	SGCG	FAR1	BRCC3	PEX14	CLCNKA	SIX1	SETD2	SEC24D	GP1BB	GNAS	MORC2	SLC39A8	KCNN3	TAPT1	ANKRD11	CCDC8	PQBP1	LARP7	RFXANK	H19	ARID1B	COL6A2	ARX	KRAS	NRCAM	POLR3A	TOPORS	SP7	SATB2	BRCA2	DVL1	FGF9	CHN1	NIPA1	PIGN	LRP4	PSMD12	RUSC2	FGFR3	USP8	WARS2	MAFB	ERCC8	TCF20	APC	MYL2	BPNT2	C12orf57	FKBP6	FLII	AIMP1	UBE3A	GINS1	ATAD3A	NMNAT1	KMT2A	CHRNE	HSPG2	MKS1	COG1	BAP1	DYM	BRPF1	SMARCAL1	CHD7	RAI1	ATP6V1A	WAC	POU4F1	LTBP3	TPRKB	PIK3R1	MOCS1	GDF5	USP48	CAVIN1	FLT4	SETD1B	PCGF2	MYCN	CAMTA1	NGLY1	ABCC9	ERMARD	EZH2	STXBP1	KLF13	RFX5	LAS1L	TSHR	GALNT2	IGF1R	HDAC4	CHAMP1	TCOF1	FUCA1	ALG11	MMP14	TCF4	UBE3B	CBL	ACTB	SLC9A6	SLC25A1	ZNF423	WNT5A	TTC5	B3GALT6	RYR1	GPC3	RAPSN	COL9A1	PAH	SPEG	SRCAP	TNPO2	SELENON	IDUA	HEXB	POLR1B	ASXL1	BIN1	LZTR1	TRAF7	NOTCH2	SUMO1	EP300	PHF6	RPGRIP1L	MOGS	MAN2B1	TMEM237	FLI1	PIGG	ETFDH	WRN	BSND	EIF4H	TTI2	TCTN2	MCTP2	SOX6	TMEM53	SIN3B	DYRK1A	ITGA7	PIGO	DCPS	SOX11	SNRPN	UNC80	COQ4	IGF2	IFITM5	KCNH1	AP4E1	MAGEL2	TRIP11	STUB1	PEPD	SYNE1	PTF1A	BCORL1	TRAPPC9	TRIO	NRAS	PHIP	P4HTM	CD28	SH2B1	PLXND1	KATNIP	KAT5	CPSF3	MMACHC	FGFR2	NF1	WNT10B	HMGA2	ZMPSTE24	MEG3	SIX5	CTBP1	AMMECR1	RRAS2	METTL27	INPP5E	ARMC9	TCTN3	AP4B1	FGF3	GLA	LMNA	TONSL	GJB2	ALG14	CCDC47	MYOD1	BUB1B	PAX1	PEX1	GDF6	SLC5A7	CLCN4	DDX3X	PMM2	LEMD2	CNP	SNX14	OTUD6B	AIP	PAX3	FLNA	PAICS	SOX18	STEEP1	SMAD3	TRAIP	NCF1	MYH3	MYSM1	SUZ12	FBXO31	EFEMP2	PPP1R15B	RERE	FKBP10	NKX2-6	AHCY	TMCO1	PEX13	HRAS	FBN1	NAGA	FANCI	SUFU	AP1S2	ERCC6	TAOK1	ERCC4	TSPEAR	GDF3	MOCS2	MAPK1	CEP55	ALG6	CENPE	ASAH1	ROR2	SLC26A2	HNRNPK	FIBP	ADSL	ERCC3	NEB	STRADA	PEX11B	CEP85L	COLQ	SLC18A3	PRMT7	HIRA	INSR	AEBP1	CACNA1C	SLC1A4	TOGARAM1	PPP2R1A	LMBRD1	NUP85	BRCA1	SKIC2	TWIST1	CEP152	ARVCF	MRPL12	ALG2	KCNJ8	FANCF	TAFAZZIN	SLC2A2	CARS1	NFIX	NUP107	CRLF1	SOST	SMO	KLHL41	CEP104	ITGA8	NTRK2	NEXMIF	UFC1	CDC6	PEX2	TNNI2	MAP2K1	GNPTAB	CDKN1C	SH3PXD2B	SEMA5A	PPP1R12A	RNF113A	KATNB1	LAMB2	LIFR	TPM3	FANCM	NSD1	ZBTB18	RNF168	PAPPA2	NOG	EYA1	PIGW	PIGA	ANKRD17	CASK	SH3BP2	NAA10	DPF2	COL2A1	COL3A1	PIGU	USP9X	PDE11A	GALNS	ATP6V0A2	B3GAT3	FANCE	GAD1	AP4S1	EFNB1	FAM149B1	GUSB	EXTL3	KAT6B	FANCB	NKX2-1	DEAF1	RBMX	IDS	ACTA1	KIAA0753	ADGRG6	CANT1	ACADS	RECQL4	MTM1	HOXD13	COL11A2	UBA1	COL18A1	GLB1	PLAG1	PBX1	LONP1	CBY1	TBC1D7	TBL1XR1	TET3	MMP2	RREB1	TAF1	RIT1	PIEZO2	DIS3L2	SCN1A	MED12L	GFRA1	CEP290	ALG12	KBTBD13	GFPT1	CDCA7	DDR2	ASXL2	ARMC5	MTX2	CHRNG	SLC6A8	LOXL3	NSUN2	YY1	NALCN	HYLS1	TBX1	CTNND1	KNSTRN	STAT3	C2CD3	MAN1B1	RAD51C	TUBB4A	KAT6A	PTCH1	GJC2	PEX12	ETFB	CEP41	RAF1	LRPPRC	FARSA	PRKG2	FANCA	ATR	MYPN	MED13L	PDE4D	SLC2A10	CDH23	WDR81	HDAC8	SLC37A4	XRCC4	CTDP1	NEU1	CC2D2A	CEP120	TGFA	KLHL15	MID1	ZNF148	NSDHL	ZIC2	COL6A3	SOX9	SYNGAP1	SLC9A7	KDM4B	SPTBN1	UBB	SLC16A2	KMT2E	SKIC3	RTTN	PDE8B	ATP7A	UPF3B	SPRED2	OFD1	PRKAR1A	EXOC2	RAC1	DNMT3A	CHAT	P3H1	PEX5	SLC35C1	NIPA2	MTRFR	ADARB1	NFIB	CDK13	TCTN1	BLM	COL9A2	AFF4	ELN	AKT1	CDK8	CLCF1	POLA1	TMEM67	RAB5IF	IFT57	ATRX	RIC1	PHF8	FLNB	MAP3K7	BSCL2	TBC1D2B	G6PC1	BRAF	RBBP8	TLK2	OCRL	MBD5	SMARCA2	KCNA1	SMAD2	GPR101	FOXE1	KCNQ1OT1	COL25A1	ADAT3	TP53RK	C12orf4	IARS1	CLCN3	CTLA4	SOX5	FOS	RFXAP	CCBE1	TTN	TNRC6B	FBLN5	RAD50	AHI1	TNFRSF1B	KCNC3	TP53	STX16	MTOR	COX7B	HPGD	AGT	SUMF1	NHS	CEP57	EBP	TRPS1	PRPS1	CHRNA7	ECEL1	CDC42	MRPS28	TECPR2	MEIS2	SEC31A	TMEM70	ELMO2	SPECC1L	FBXO11	EXT2	MPLKIP	RAB11B	PITX2	TALDO1	GRIN1	PIK3CD	ATG7	EED	PYCR2	NPHP3	CLCNKB	GATA1	TRIM37	PACS2	ARL13B	ANOS1	GTF2I	CNTN1	TAB2	GHR	TMEM251	PROP1	SLC25A12	PLAA	PIK3C2A	ZMYM2	RNF135	MYO9A	KCNQ1	AGTR1	XYLT1	CENPJ	TDP2	SLC2A1	PTCH2	ALMS1	CDC42BPB	PLCB4	TNNT3	BCR	SNIP1	GNPTG	LIG4	CAV1	TELO2	RIN2	LMX1B	B4GALT7	AP4M1	WNT10A	TARS1	MAN2C1	CHST3	PDHA1	ITCH	BCAP31	FN1	ATP6V1B2	USP7	RPS17	GJB6	ARID2	STT3A	SON	OBSL1	COL1A2	KMT2B	B3GLCT	COG7	GTF2IRD2	LIMK1	KIF7	DHX37	LMOD3	SIM1	RTL1	DCAF17	TMEM270	KANSL1	MRPS34	CHRNA1	CLIC2	SIN3A	TBR1	TSEN54	SEPTIN9	COG4	HEPHL1	SLC6A1	B9D1	AGPAT2	DNAJC19	GBA1	PIGL	MN1	PAX9	SEMA3E	POU1F1	CUL4B	FGF20	HECW2	GPC4	ZIC1	ETFA	MEOX1	PIGY	BMP4	ADAMTS3	ABCA5	SALL4	EHMT1	LAMTOR2	CCDC115	NAGLU	WDR26	MYH8	ATP6V1E1	LETM1	PUS3	ZEB2	SPOP	CFL2	PCNT	FANCC	CSPP1	VPS33A	KCNJ2	PALB2	AP2M1	ANTXR2	RPS6KA3	TRIP13	MEN1	TMEM218	FGF10	STAG2	SCUBE3	PPP2R5D	IGF1	SLC26A4	AXIN2	ARID1A	LHX3	MAD2L2	EBF3	MCOLN1	EIF2S3	BCAS3	SGSH	MACF1	FMR1	BRIP1	MPL	SPEN	PEX6	NDN	JAK3	FTO	DPM2	MANBA	PAX8	PIGB	MAF	ELOVL4	DHX30	SPRTN	CHD2	ZBTB24	ADNP	NBAS	POLR1D	COG2	CTNNB1	RNF13	NOTCH3	GRB10	GK	CDH11	CTSA	ADAMTSL1	KIF22	CYP24A1	MAPK8IP3	TRMT10A	DSTYK	BAZ1B	PRKACA	SETBP1	PKHD1	PAX2	SLC35A2	SEC24C	MICU1	PEX16	PGM3	L1CAM	EDN1	NDE1	RBL2	RHOA	GJA8	PSPH	PAM16	DLL1	NFIA	PRDX1	ACE	HNRNPH1	SYT2	FLCN	BUB1	AMER1	CIITA	COL6A1	TMEM260	RAB39B	NKX2-5	CENPT	GRHL3	EDNRA	KCNJ5	COL11A1	POLR1C	NANS	BCOR	HYOU1	STAG1	DPH1	TGFB1	FGFRL1	HCCS	SPRED1	PAK3	OSTM1	PIK3CA	AHDC1	MRAS	TP63	CHD4	GTF2H5	JAG1	AP3B1	WNT7A	MAP2K2	BCL7B	ZNF711	MATN3	CREBBP	PPP1R21	PEX19	DOCK3	PEX7	CRKL	RPL10	SLC45A1	SMC1A	TBX22	UBE2A	PORCN	TGFB3	OPHN1	PAX7	KIF4A	ALG13	DDX11	SMARCC2	CRTAP	MSTO1	HGSNAT	ARSK	TMEM231	XRCC2	TBC1D24	SLC10A7	TBX2	B4GALT1	SCN3A	BMPR1A	GNAI3	ACER3	HSD17B10	CAMK2G	SOX4	B9D2	DLK1	CHSY1	POR	FOCAD	PUF60	PTEN	ALG9	RDH11	FGD1	NR3C1	BUD23	SNAP25	PGAP2	SNAP29	PYROXD1	CCDC174	SLC25A24	RELN	NPHP1	CWC27	GJA5	HESX1	CHST14	TMEM138	TTC26	PYCR1	PLK4	LEMD3	ACTG2	PPP2R3C	TMEM216	SERPINH1	TBCK	IRF6	EXOC8	SSR4	JMJD1C	RNU4ATAC	ORC6	PUM1	FANCG	RNASET2	PEX26	SALL1	ZSWIM6	SMS	NONO	CNOT1	AASS	FBXL4	CUL7	UBE2T	TUBG1	SMARCE1	PIGK	MVK	PDHB	RSPRY1	SMARCA4	NKAP	KCNJ1	MED12	RRAS	DNMT3B	TSPAN7	KDM5B	ZDHHC9	MLXIPL	KMT2C	GJA1	PAK1	TUBGCP4	FIG4	NECTIN1	GMPPA	PIGF	AGA	GTF2E2	ZFHX4	GRIN2A	RUNX2	CLIP2	HACD1	SRD5A3	TUBB	GPC6	RFWD3	SMARCD1	PDE6D	SVBP	ERF	PRKAR1B	CPLX1	BUB3	TMEM147	CSGALNACT1	ALKBH8	REN	NSD2	FGFR1	POGZ	PACS1	KCNK9	CDK10	LTBP1	TBX15	PTRH2	HELLS	MGAT2	PRKACB	COMT	BPTF	RMRP	OCA2	FUT8	CHRNB1	ATRIP	DCHS1	HUWE1	ERCC1	SET	RLIM	EDA	MYH7	EDARADD	THOC6	NHEJ1	KIAA0586	ALG8	SOS1	DACT1	PPP3CA	PHGDH	MAP3K20	ITGA3	THPO	MPDZ	CTNND2	COL1A1	DDX59	EXOC6B	SLCO2A1	RHOBTB2	COL13A1	PIGV	CDH1	PIBF1	MIR17HG	PEX3	GTF2IRD1	GNS	POC1A	TMEM94	ACTG1	PIGQ	CHRND	CPE	MAPRE2	VAMP1	MSX1	AIFM1	IQSEC2	LRP6	BRF1	PPARG	PURA	RFC2	FANCD2	BRAT1	TBL2	COL9A3	PUS7	ATP10A	EMC10	FHL1	TFE3	CNTNAP2	MID2	KDM6B	EPG5	ADAMTSL2	STX1A	AUTS2	EXOSC9	SLC17A5	DNAJC30	SLC12A6	ASPH	LHX4	DENND5A	HPSE2	PCDHGC4	H4C5	TRMT5	SOS2	TOR1A	PEX10	SF3B2	HERC1	KIF15	BRWD3	RAD21	DNAJC21	RASA2	ARL3	FRAS1	ERCC2	EMC1	NR2F1	SMC3	SLX4	AGRN	PLOD3	FANCL	PGAP3	HIBCH	NEDD4L	OTUD5	PIGS	PLOD2	CLTCL1	RAD51	CA2	UFD1	PKD2
HP_SHORT_COLUMELLA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_COLUMELLA	ERF	CREBBP	ALX3	SHH	EP300	ACTB	DNMT3A	MAN2C1	CTCF	THUMPD1	KDM6A	ARSL	CHST14	KCNH1	CENPF	KMT2D	B3GLCT	NAA10	KCTD1	NALCN	SCNM1	ASXL3	ACTG1	MBD5	TWIST1	LMBR1
HP_DEEP_PHILTRUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEEP_PHILTRUM	ZIC2	CREBBP	PPP1CB	NRCAM	DPM2	CDKL5	PBX1	KCNK4	HS2ST1	TRPS1	TFAP2A	EP300	SHOC2	UBE2A	EZH2	NOVA2	NAA20	SUZ12	NSD1	GNB2	PURA	MGP	NAA10	KIF11	MEG3	H4C5	OFD1	DPYD	RTL1	SETD5	HSPG2	MED12	PAM16	FBN1	TCF4	OCRL	DLK1	H3-3A	CBL	EFTUD2	DNMT3A	SMOC1	MYH8	EBF3	BRAF	AUTS2	SLC35C1	CHSY1	H4C9	EXT1	NBN	HRAS	RYR1	PIGS	SMPD4	ATP6V1B2	IL6ST	EED	TOE1	PIGT	INTS1	SNX14	PRKACB	NRAS	ARID2	ZNF148	MAP3K7	TALDO1
HP_LARGE_FOREHEAD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_FOREHEAD	ZFHX4	ODC1	HS6ST2	CAMTA1	STXBP1	TAOK1	FLNA	PDE4D	POU4F1	STRADA	BMPR1A	SRC	GNB2	SPOP	PTEN	TOE1	SUMF1	FMR1	MEIS2	UNC45A	LEMD2	VPS33A	AMMECR1	RNF125	LMX1B	COL25A1	ARID2
HP_FACIAL_CLEFT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_CLEFT	POLR1B	POLR1C	IFT80	FRAS1	DYNC2H1	ALX4	EVC2	DYNC2I1	POLR1D	TCOF1	COLEC10	ALX1	DYNC2I2	EVC	WDR35	RIPK4	SF3B2	SPECC1L
HP_VOMITING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VOMITING	FOXP3	ZFTA	MT-ND4	CYP11A1	NDUFB10	ZIC2	AASS	YARS1	PLCH1	MT-ND6	LIPA	SAR1B	CPT2	TGIF1	ETFA	MT-ND1	NODAL	PNPT1	MT-TC	CFH	CDKN1B	SIX3	ASXL1	CLCNKA	SLC25A15	MT-TL1	TIMM22	GALE	AVPR2	HMGCL	UQCRC2	ZEB2	RECQL4	ATP7B	GALC	AIP	DLL1	CARD8	KCNJ1	ALG3	SUOX	EPCAM	NUBPL	GAS1	PCCB	STIL	SHH	MT-CO1	GFM2	HLA-DQB1	OXCT1	HFE	ASS1	FOXH1	CDH23	FGF8	NARS2	BCKDHA	ESR1	SLC6A8	NDUFS7	ACADM	GFAP	GLA	MT-ND5	MEFV	FBP1	NDUFA11	TXNRD2	TREH	SLC1A3	NDUFA1	SLC12A1	AIMP1	MCCC1	ASXL3	APC	MT-TK	HNRNPK	MT-ATP6	ALDOB	ETFB	HLCS	COA8	NDUFV2	MT-TS2	PCCA	CTNNB1	MT-TW	ACY1	AVP	CDON	MARS1	AQP2	MPI	SI	GAMT	GLI2	MTTP	SAA1	COL4A5	GALT	NNT	SLC37A4	ASL	OPLAH	MMUT	MT-TQ	ENPP1	TOM1	MT-CYB	NDUFS4	FGFR1	NUP214	NDUFAF2	SLC2A9	SPTBN1	STAT4	FAH	KMT2E	SLC12A3	NEUROG3	MLYCD	NDUFV1	ASPA	COQ2	ALAD	TYMP	CCM2	PDCD10	ALG11	RANBP2	MRAP	PKHD1	CPOX	FBLN5	KYNU	FARSB	SERPING1	RRM2B	TMEM126B	GRB10	GK	LIG3	PIGY	PSAP	SCNN1B	UQCC2	ATP6V0A4	STAR	MT-TV	ATRX	STX3	CYP24A1	CDK13	NDUFAF1	UNC45A	SLC7A7	FLNA	ALDH18A1	NDUFS1	ATP1A2	HLA-DQA1	CDK8	DGUOK	NR3C2	SCN2A	IRAK1	SCNN1G	KCNJ11	SLC5A1	ETFDH	BSND	SLC19A3	TCN2	SLC22A5	MTRR	NAA10	MMAB	DBT	ERBB3	NLRC4	RET	SUGCT	SMC1A	DYRK1A	MT-TF	MPV17	PDSS2	CDKN1A	PHKG2	NDUFS6	NDUFAF3	MEN1	MSX2	UQCRH	ACSF3	MC2R	BTD	TWNK	NDUFAF4	COL5A1	ALG8	MTHFD1	DISP1	SHANK3	PLEC	CYC1	PHGDH	PPM1D	LBX1	ABCC6	F12	TNF	MCCC2	PHKA2	POLG	PTCH1	CPS1	ARG1	HPRT1	TDGF1	MT-CO3	MT-TH	CYP11B2	ATP1A3	STK11	CTNS	EDNRA	SPINK1	TNFRSF1A	DBH	BCKDHB	PMM2	SLC22A12	MMAA	HADH	CLMP	NAGS	ACADVL	CDKN2B	OTC	HS3ST6	ALPL	CTRC	NOTCH2NLC	PPOX	DHCR7	SYK	NDUFA6	ALX4	SPP1	CLCNKB	KRIT1	SLC25A13	DLD	CD46	CFI	NFIX	MET	MED12	NDUFS8	DOLK	NDUFB9	ABCC8	COL1A1	ACAD8	MRPS7	CDKN2C	RYR1	HMGCS2	NDUFB3	ITGB4	ELN	MT-ND2	ACAT1	CDC42BPB	RARS1	HMBS	NDUFS2	CD55	COL5A2	ST3GAL5	LAMB3	NDUFAF8	NDUFAF5	MVK	SCNN1A	PERCC1	KARS1	CAV1	STAG2	ACTG2	ANO1	MT-ND3	PNPLA8	TIMMDC1	DGAT1	SUCLG1	EGFR	FOXRED1	FOCAD	BOLA3	HELLPAR	SYT1	COL4A6	GAN	NEXMIF	SLC5A6	HSD3B2	IVD	CUBN	PYCR2	NDUFS3	NSD1	LAMC2	CACNA1A	MT-CO2	HNF4A	AMN	RELA	KIT	HIBCH	SSR4	LPL	SMPD1	TP53	LAMA3	BRAF	PGM1	PHKB	NDUFB11	GHSR	ANAPC1	ELP1	ALG9	TRMU	ADNP	NAXD	D2HGDH	NBAS
HP_DIARRHEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIARRHEA	FOXP3	MT-ND4	WIPF1	POLA1	ADAM17	SMAD4	BRCA1	IDS	IFNGR1	LIPA	ECE1	SAR1B	ITGA2	CFH	TCF3	IPO8	DOCK2	RMRP	RECQL4	ALG1	PRKN	SLC51A	FCHO1	AKR1D1	CDKN1B	TP53	IL7R	IFIH1	CR2	ASXL1	C4B	PIK3R1	RNF113A	NAGLU	RAG1	BTK	MT-TL1	SKIC2	HMGCL	SEMA3D	LIG4	GUCY2C	ERCC4	SLC39A4	CARD8	KCNJ1	ALG3	RAG2	TCIRG1	CD247	RFXANK	DNMT3B	EPCAM	ATP7A	SYNJ1	FCGR2A	ENG	GP1BB	ABCB11	HLA-DQB1	IGHM	SCN11A	LRBA	SLC25A13	ANTXR2	TTR	GLA	ZFYVE19	MEFV	KNSTRN	HPS1	FBP1	PPP2R5D	TXNRD2	IL6ST	GATA6	TREH	SI	IKZF1	MGME1	SLC12A1	RFXAP	GINS1	CYP27A1	APC	UCHL1	WAS	SKIC3	MT-ND6	REL	CD19	SLC37A4	ICOS	LCK	AVP	MPI	SGSH	MTTP	SAA1	MT-TS2	GALT	NNT	CD3D	EFL1	OPLAH	ERCC6	ATRX	SLC26A3	MT-TQ	TOM1	JAK3	SLC1A3	MT-ND5	SREBF1	STAT4	CFHR3	FAH	BLNK	NEUROG3	IL21R	CLPB	ADA	RFX5	BRCA2	MLYCD	CFHR1	CARMIL2	EDNRB	ALAD	NBN	TYMP	CASP8	PIGT	KRAS	SRSF2	EDN3	HTRA2	IL37	MRAP	SAMD9	PLEC	SERPING1	RRM2B	ATP6V0A1	CFTR	CLCNKB	MADD	VPS45	HEXB	COG4	LIG3	SLC10A2	BMPR1A	NOD2	ZAP70	STAR	SP110	STX3	UNC45A	CPT1A	SLC7A7	ALDH4A1	TMPRSS15	ATP1A2	SLC9A3	HLA-DQA1	HBB	AMACR	ALDOB	SCN9A	ATP6AP1	NR3C2	RIPK1	HMBS	IRAK1	WDR1	ATM	IFNG	SLC5A1	SON	HLA-B	DAXX	PKP1	TCN2	NAA10	SNCA	AP1S1	ATP8B1	NLRC4	SUGCT	MCM10	G6PC1	MT-TF	MPV17	PERCC1	AIRE	CDKN1A	WNT2B	TLK2	PLVAP	SDHD	PHKG2	RFX6	MEN1	SLC22A5	UQCRH	MYD88	ACSF3	MC2R	PARK7	BTD	LRRK2	IRF2BP2	ALG8	SMO	ETHE1	CIITA	ERCC2	IL6	SLC12A3	DNASE1L3	IL2RG	C5	PODXL	ITCH	TFRC	KIT	STAT1	IGKC	TGFB1	RACGAP1	PHKA2	KMT5B	PIK3CD	POLG	MVK	LCT	TKFC	HYOU1	SLCO2A1	ITGB2	IL21	PI4KA	DCLRE1C	CD79A	ITGA2B	GFI1	MT-TH	ATP1A3	CPOX	CCDC47	TNFRSF13B	TET2	TNFRSF1A	CPT2	DBH	GNS	PMM2	RET	CHD7	ARX	ERCC8	IRF4	HADH	CLMP	SLC19A2	ERBB2	PINK1	VPS13C	CDKN2B	CD3E	HS3ST6	ACADM	NAGS	HSD3B7	NRTN	SLC46A1	TSHR	GDNF	SPINT2	ABCD1	SYK	CDKN2A	BACH2	ERBB3	TNFRSF13C	DDC	KIF23	DES	SPP1	RBCK1	RABL3	ABCB4	F5	MCM6	CYP7B1	AGA	TAOK1	DOLK	SEMA3C	CD79B	TTC7A	CDKN2C	PHKB	HGSNAT	GP1BA	ASAH1	HMGCS2	HEATR3	ELANE	ITGB4	PIK3CG	NSUN2	NCF4	MAOA	PALB2	CD55	B4GALT1	SCNN1A	ELF4	CAV1	MT-CO1	AK2	IL10RA	ACTG2	ANO1	DGAT1	EGFR	ACVRL1	MYO5B	FOCAD	IKBKB	IL2RB	ALG2	PALLD	SLC35C1	COG6	NHLRC2	PTEN	USP7	SRP54	CD109	LRRC8A	CTLA4	DPM1	ITGB3	DMPK	RNF168	CACNA1A	MT-CO2	COG7	DEF6	OTULIN	HNF4A	SMARCD2	ZNFX1	CBL	DNASE2	ARPC1B	RUNX1	CD40LG	IL2RA	IDUA	PCSK1	PGM1	CD3G	IGLL1	STK11	ANAPC1	ACAT1	ELP1	ALG9	MT-CO3	DNAJC6	TERT	MT-TW	SLC51B	GREM1	NAXD	KIF1B	MT-ND1
HP_DYSPHAGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSPHAGIA	AMPD2	CHCHD10	FGF8	TSEN2	TFG	NDUFA9	DLL1	ZIC2	KAT6B	SPG7	AASS	HLA-DRB1	BAP1	FBXL4	HTT	PLCH1	LRP12	ARHGAP29	NEFH	KCND3	ACTA1	SNCA	TGIF1	ZNF699	ALS2	CASZ1	CHRNA1	IPO8	TK2	SPG11	MT-ND1	OPA1	NODAL	FBXO28	GNAO1	ALDH18A1	LMOD3	KIAA0319L	KLHL7	DGUOK	NPC2	NDUFAF2	DPYSL5	SIX3	ATXN8OS	CTNS	RRM2B	SYT14	HSPG2	GLB1	SLC12A2	PLA2G6	ASAH1	MYH8	NDUFB8	TBC1D23	PUS3	ATP13A2	ZEB2	CCN2	ATP7B	PDGFRA	KAT6A	PDP1	PMP22	PANK2	TAF1	WARS2	LRRK2	GAS1	TYMS	GRIN1	POLG	HPCA	HOXB1	VCP	STIL	SHH	KBTBD13	TOP3A	GFPT1	FERMT1	SATB2	FOXH1	CARS2	VAMP1	TP63	VAPB	LMNB1	GBA1	COQ2	MECR	FGFR3	YY1	FIG4	GFAP	SPTLC1	FRG1	CHAT	MYOT	TRAPPC12	FGF10	TSEN54	PRDM16	GMPPA	SCUBE3	FARS2	MACF1	FA2H	MYL2	SRD5A3	CDH1	IKZF1	SOD1	C9orf72	MGME1	TUBB4A	ACOX1	NCAPG2	TPM2	CYP27A1	MT-ND6	KMT2A	CHRNE	PABPN1	NF2	NECTIN1	MT-ATP6	PYGM	POLR3A	TRIO	BMP4	PDPN	KLHL41	SCN4A	ATN1	ANXA11	DDHD2	CDC73	CHD7	EBF3	LRPPRC	CYP7B1	MYPN	RNASEH1	WAC	GNB1	CDON	KIT	SCO2	PRDM13	GLI2	COL4A5	HACD1	DAB1	LIG3	NOP56	IDH1	SPEN	GJB1	PLP1	MID1	CAVIN1	MAP2K2	REPS1	SLC1A3	VPS35	RHBDF2	FGFR1	SLC25A4	TANGO2	SLC25A22	SDHA	RERE	UBB	MYO9A	SLC52A3	NGLY1	GBA2	SRPX2	ADH1C	MAPT	GABRD	STXBP1	SPTBN4	NDUFS3	EXT2	ASPA	CARMIL2	GNB2	TOR1A	TBK1	CCR6	TYMP	EPRS1	CAV1	TGM6	DNAJC13	ATP1A3	AFG3L2	MYO1H	MYH11	NR4A2	CRYAB	MYORG	KCNK9	REEP1	SLC9A6	MADD	PSEN1	SLC25A1	CACNA1G	AOPEP	HEXB	REV3L	STUB1	RYR1	OPTN	SURF1	GIGYF2	LBR	APOE	IRF5	COLQ	NDUFAF3	TSEN34	PI4KA	MT-TV	FMR1	ATXN10	PTS	SELENON	ATXN1	MECP2	MMP23B	PLXND1	SDHC	EIF4G1	ALDH4A1	SQSTM1	ATP1A2	ANKRD11	MRPS25	NOTCH3	HMBS	SLC52A2	TPM3	NEB	ERLIN2	MYH2	SON	SLC19A3	NTRK1	NDE1	CRLF1	OCA2	DNM1L	NAA10	GCH1	COL7A1	SMC1A	C19orf12	IRF6	ITGA7	EXT1	RLIM	BRAF	TWNK	COQ4	GNAQ	NDUFA6	SDHD	YARS2	ATXN3	SPART	MYH7	KIF5A	NONO	B4GALNT1	SLC5A7	SIGMAR1	CHRND	SDHB	SYT2	FLCN	GRM7	ASCC1	PNKD	FTL	DISP1	VARS1	GRM1	IDH2	XRCC1	DLG1	CLCN1	ATP7A	UBE3A	KLHL40	EIF5A	HLA-DQA1	PRPS1	MAP3K20	FXN	GDAP2	MATR3	FUS	HPDL	GCDH	SACS	QDPR	GRHL3	SLC44A1	MEGF10	CACNA1A	PRDX3	RNF170	MYMK	PLEC	TIMM8A	COL13A1	PTCH1	TRIP4	MT-TT	SYNJ1	TTBK2	ECM1	MT-ND5	CNTNAP1	HPRT1	TDGF1	SKI	SATB1	KCNC3	TUBB6	PSAP	WFS1	NDUFS2	UBTF	APP	MINPP1	PRKRA	GNS	ADAR	PRKCG	MMP1	DKK1	GLUD2	MFF	NUP62	FBXO7	PEX1	VPS13A	SCN3A	SNCAIP	SCARB2	GRIN2D	EXOSC5	KY	NOS1	CHMP1A	MRPS28	PDE8B	SEC31A	SETX	NEK1	SPG21	HLA-B	LAMA2	POLR3B	ABCD1	NF1	SLC6A9	ZC4H2	TBP	SERPING1	TBCD	LUZP1	ADD3	PFN1	NEU1	ATG7	ATXN2	DYRK1A	TRAPPC6B	ACTB	PRNP	GEMIN4	GRHL2	NEUROD2	CLN3	DNAJB6	PAX7	MT-ND4	NOTCH2NLC	SIK1	KCNAB2	PLAA	MSX1	ZMYM2	PIGN	AR	HEPACAM	HGSNAT	EPG5	IL6ST	VAC14	EXOSC9	MT-ND2	ADGRG1	RARS1	HTRA2	DMPK	HLA-DQB1	CEP85L	SLC18A3	DTYMK	RILPL1	ZFYVE26	HSD17B10	MPZ	DYSF	STAG2	ADCY6	PRKCZ	SETBP1	ACTG2	CACNA1C	NEFL	PIK3R5	VRK1	SLC1A4	TSEN15	TARDBP	LMX1B	NSRP1	DCTN1	MED17	MAN2C1	IRF2BPL	PUF60	FLAD1	GIPC1	FGFR2	COL4A6	ATXN7	SNAP25	MT-TK	PYROXD1	PCNA	RELN	MTRFR	ARX	GUCY1A1	NDUFS1	KATNB1	LAMB2	LIFR	PIGA	RAI1	AGRN	UBE4B	KMT2B	NPC1	MT-TW	CSF1R	PRPH	SLC2A3	HTRA1	MT-TL1	PEX16	MT-ND3	GALC	MRPS34	FUZ	NUTM2B-AS1	DCX	POLG2	CLN8	JAG1	DLX4	ADNP	UNC45B	UBQLN2	CTNNB1	SEPSECS	VPS11
HP_NAUSEA_AND_VOMITING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NAUSEA_AND_VOMITING	FOXP3	PMS1	NLRP3	ZFTA	MT-ND4	CYP11B1	CYP11A1	SDHB	SMARCE1	NDUFB10	ZIC2	VPS37D	AASS	HLA-DRB1	YARS1	PLCH1	MT-ND6	BRCA1	VHL	LIPA	ECE1	SAR1B	CPT2	TGIF1	ETFA	TBK1	ATXN2	MT-ND1	FUS	TLR4	NODAL	PNPT1	RAB27A	DNMT3A	AVPR2	MT-TC	PRKN	KIAA0319L	CFH	PRPH	CDKN1B	TP53	SIX3	ASXL1	CLCNKA	ACTG2	SLC25A15	MSH2	MT-TL1	TIMM22	GALE	FH	KCNJ5	HMGCL	SEMA3D	UQCRC2	SMO	LMOD1	ITGA6	ZEB2	RECQL4	CCN2	ATP7B	GALC	AIP	DLL1	CARD8	KCNJ1	ALG3	SUOX	MAX	EPCAM	NUBPL	GAS1	ATP7A	SYNJ1	PCCB	STIL	SHH	MT-CO1	GFM2	HLA-DQB1	OXCT1	HFE	ASS1	MLXIPL	FOXH1	CDH23	FGF8	NARS2	BCKDHA	ERBB4	ESR1	SLC6A8	PRTN3	NDUFS7	ACADM	GFAP	GLA	BAP1	PON2	PDGFRA	CTNNB1	MT-ND5	MEFV	FBP1	NDUFA11	TXNRD2	HLA-DPB1	CHCHD10	TREH	SLC1A3	FKBP6	IKZF1	NDUFA1	MGME1	SLC12A1	AIMP1	MCCC1	ASXL3	FOXP1	APC	UCHL1	MT-TK	HNRNPK	MT-ATP6	ALDOB	NF2	TGFBR2	ETFB	HLCS	COA8	CDC73	NDUFV2	MT-TS2	PCCA	MT-TW	ACY1	AVP	CDON	MARS1	KIT	AQP2	MPI	SI	GAMT	GLI2	MTTP	SAA1	COL4A5	MMUT	CLIP2	PON3	GALT	NNT	SLC37A4	ASL	TAF15	OPLAH	SDHA	ATRX	IL12A-AS1	MT-TQ	EXT2	ENPP1	TOM1	MT-CYB	RET	RHBDF2	NDUFS4	FGFR1	NUP214	NDUFAF2	SLC2A9	SPTBN1	STAT4	FAH	KMT2E	SLC12A3	NEUROG3	BRCA2	MLYCD	PFN1	NDUFV1	TMEM127	ASPA	EDNRB	HLA-B	COQ2	ALAD	CCR6	SMARCB1	MDH2	FIG4	TYMP	CCM2	PDCD10	CAV1	KRAS	ALG11	MYLK	RANBP2	SRSF2	EDN3	HTRA2	MRAP	PKHD1	CPOX	FBLN5	CYP11B2	KYNU	FARSB	SERPING1	RRM2B	TARDBP	TMEM126B	CLCNKB	MYC	FLI1	GRB10	GK	FSHR	LIG3	SLC25A11	EPAS1	PIGY	MSH6	IRF5	TRAF3	KIF1B	PSAP	SCNN1B	UQCC2	ATP6V0A4	STAR	MT-TV	STX3	SQSTM1	CYP24A1	CDK13	NDUFAF1	UNC45A	PPOX	SLC7A7	FLNA	PON1	ALDH18A1	NDUFS1	ATP1A2	BAZ1B	ELN	HLA-DQA1	CDK8	DGUOK	CACNA1D	NR3C2	IL18BP	SCN2A	HMBS	CCNF	IRAK1	DCTN1	SCNN1G	KCNJ11	TRAF7	SLC5A1	ETFDH	BSND	SLC19A3	DAXX	EIF4H	SHANK3	TCN2	SLC22A5	MTRR	SOD1	NAA10	MMAB	SNCA	DBT	ERBB3	NLRC4	BMPR1A	SEMA4A	SUGCT	SMC1A	DYRK1A	MT-TF	MPV17	PDSS2	KLRC4	CDKN1A	DAO	SDHD	PHKG2	NDUFS6	NDUFAF3	MEN1	MSX2	UQCRH	ACSF3	MC2R	PARK7	HLA-DPA1	MYH11	BTD	LRRK2	KCNA1	TWNK	NDUFAF4	COL5A1	ALG8	MTHFD1	DISP1	UNC93B1	EPHA4	PLEC	DLST	DNASE1L3	CYC1	PHGDH	PPM1D	LBX1	PODXL	MATR3	NEK1	ABCC6	PAH	CACNA1A	GATA2	IL10	F12	TNF	UNC13A	MCCC2	PHKA2	POLG	MALT1	PPARGC1A	PTCH1	CPS1	METTL27	PTEN	ARG1	HPRT1	TDGF1	MT-CO3	MT-TH	ATP1A3	STK11	CTNS	EDNRA	FAN1	SPINK1	GTF2IRD1	TET2	TNFRSF1A	DBH	BCKDHB	PMM2	TREM2	SLC22A12	MMAA	HADH	CLMP	NAGS	ERBB2	GLE1	PINK1	PDGFB	VPS13C	ACADVL	CDKN2B	OTC	CTLA4	ERAP1	HS3ST6	ALPL	SCN5A	TICAM1	CTRC	BCL7B	WWOX	NRTN	SLC46A1	NOTCH2NLC	NCF1	GDNF	MLH1	ABCD1	DHCR7	SYK	CFAP410	CDKN2A	IFNGR1	AKT1	NDUFA6	BRAF	ALX4	RFC2	SPP1	PIK3CA	TBL2	KRIT1	RABL3	NF1	SLC25A13	DLD	CD46	CFI	NFIX	GTF2I	MET	MED12	SDHC	ANXA11	NDUFS8	GLT8D1	DOLK	NDUFB9	ABCC8	COL1A1	ACAD8	SEMA3C	NEFH	MRPS7	CDKN2C	RYR1	HMGCS2	STX1A	NDUFB3	ITGB4	CHMP2B	DNAJC30	MT-ND2	ACAT1	CDC42BPB	RARS1	PALB2	NDUFS2	CD55	COL5A2	ST3GAL5	VAPB	LAMB3	NDUFAF8	NDUFAF5	MVK	SCNN1A	TERT	PERCC1	ANG	TLR3	KARS1	STAG2	C4A	ANO1	MT-ND3	PNPLA8	TIMMDC1	TRMT5	SREBF1	DGAT1	IL12A	SUCLG1	EGFR	FOXRED1	IL23R	VCP	FOCAD	BOLA3	PALLD	HELLPAR	UBQLN2	SYT1	COL4A6	NPPA	BUD23	BIRC3	GAN	RPS20	NEXMIF	SLC5A6	HSD3B2	IVD	CUBN	PYCR2	OPTN	NDUFS3	PMS2	SMAD4	WT1	RNF6	NSD1	LAMC2	CCR1	SUFU	MT-CO2	DLEC1	GTF2IRD2	LIMK1	HNF4A	AMN	RELA	HIBCH	MLH3	SSR4	TMEM270	LPL	SMPD1	BCL10	LAMA3	PGM1	PHKB	UBAC2	NDUFB11	GHSR	ANAPC1	SLC25A4	ELP1	ALG9	C9orf72	DNAJC6	PTPN22	TRMU	HNRNPA1	ADNP	EWSR1	NAXD	D2HGDH	NBAS	FAS	SDHAF2	CLCN2
HP_NAUSEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NAUSEA	FSHR	PODXL	CYP11B1	SDHB	SLC2A9	KIT	HMBS	VHL	COL5A2	TNF	TMEM127	ETFA	ALAD	PHKA2	MDH2	TYMP	POLG	DNMT3A	PRKN	CFH	SRSF2	CDKN1B	HTRA2	RET	PKHD1	CYP11B2	RRM2B	FH	SDHC	KCNJ5	EDNRA	LIG3	SLC25A11	SPINK1	HELLPAR	EPAS1	TET2	NPPA	KIF1B	SLC22A12	MAX	PPOX	PINK1	VPS13C	SYNJ1	CDKN2B	SCN5A	CTRC	ALDOB	NAGS	CACNA1D	IL18BP	ESR1	ETFDH	GLA	CPOX	SNCA	SERPING1	SLC1A3	MGME1	APC	UCHL1	CDKN1A	SLC7A7	LPL	NF1	PHKG2	MEN1	SDHD	TP53	ETFB	CD46	CFI	PARK7	LRRK2	PHKB	KCNA1	SAA1	COL1A1	COL5A1	DNAJC6	SDHA	CDKN2C	RYR1	ATP1A2	EXT2	ASXL1	DLST	SDHAF2	CLCN2
HP_CONSTIPATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONSTIPATION	PMS1	MT-ND4	ARSB	ZIC2	ODC1	VPS37D	POU1F1	NSD2	NKX2-1	SPATA5	HS2ST1	PLCH1	DEAF1	TSHR	ECE1	TGIF1	CASZ1	STAT6	IPO8	OPA1	NODAL	FBXO28	CHRM3	SETD2	MT-TK	AVPR2	PRKN	CDKN1B	SIX3	MECP2	ERBB2	VPS51	MAGEL2	RRM2B	TRIM8	HSPG2	PCCB	MNX1	MSH2	TCF4	GP1BB	MT-TL1	MED13	WDR26	SEMA3D	ZEB2	WAC	CAMTA1	MED12	RREB1	NALCN	DLL1	KCNJ1	SPOP	UNC80	TAF1	LRRK2	GAS1	PHIP	POLG	PHOX2B	ATP7A	SYNJ1	COQ2	DSE	STIL	SHH	MED12L	CREBBP	HFE	TPO	USP9X	MLXIPL	FOXH1	H3-3B	SCN11A	FGF8	LMNB1	SLC6A8	IYD	VPS11	TTR	PCCA	EDN3	SMO	PDGFRA	TBX1	PRDM16	MEFV	PACS1	DDOST	TXNRD2	TCF20	FKBP6	SLC26A4	ARNT2	FLII	SLC12A1	FOXP1	DUOXA2	APC	POU4F1	UCHL1	POLG2	HNRNPK	SOX3	APC2	IGBP1	MT-ND6	LHX3	TRIO	PDPN	CHD8	ATN1	DDHD2	CDC73	PRKG2	RAI1	SETD1A	CDON	FLNA	KIT	GATAD2B	AQP2	GLI2	MT-TS2	CLIP2	SUPT16H	NNT	SPEN	DPF2	MT-TQ	EXT2	CAVIN1	H1-4	PPP1CB	SLC1A3	IGHMBP2	VPS35	PCGF2	MT-ND5	FGFR1	SLC25A4	SDHA	PAX8	SPTBN1	SCNN1B	SLC38A3	ADH1C	SLC12A3	GABRD	FGF12	STXBP1	MLYCD	EDNRB	GNB2	ALAD	GALNT2	TG	DNAJC13	HTRA2	POGZ	MRAP	UPF3B	MYO1H	MYH11	NR4A2	UBE3B	CLCNKB	MADD	NSD1	PROP1	GRB10	HEXB	KCNJ18	CISD2	GIGYF2	MSH6	STAR	GJC2	ATRX	CDK13	MMP23B	PPOX	SDHC	EIF4G1	COMT	ATP1A2	BAZ1B	AFF4	ELN	SLC6A3	MAPT	ALDOB	SCN9A	EP300	ZMIZ1	SEC24C	HMBS	OTX2	WASF1	MOGS	FLI1	VANGL1	EIF4H	OCA2	SNCA	MDH2	FGF13	BMPR1A	RET	PAK2	SEMA4A	COL7A1	SMC1A	MT-TF	CDKN1A	TLK2	OCRL	MBD5	SMARCA2	MEN1	SPART	MC2R	THRA	PARK7	GBA1	FBXW7	CASR	SOX10	DUOX2	SCNN1G	FOXE1	COL5A1	FOXA2	SNRPN	FDFT1	DISP1	PLA2G6	DACT1	P4HTM	EIF5A	ADAT3	PPM1D	LBX1	PODXL	SH2B1	LMNB2	NKX2-5	POLRMT	TSHB	AFF3	CDKL5	SCN10A	HIVEP2	KMT5B	FOXG1	MITF	MALT1	PTCH1	MT-TT	METTL27	TDGF1	SKI	SATB1	SLC12A2	SIK3	MT-TH	ATP1A3	RORA	CTNS	FAN1	CPOX	GTF2IRD1	EDA	TNFRSF1A	MMP1	GLUD2	RMRP	TWNK	KRAS	LRIG2	CNP	PINK1	OTUD6B	VPS13C	SNCAIP	PROKR2	CDKN2B	SLC5A5	CHMP1A	ALPL	BCL7B	NRTN	PPP1R21	NCF1	GDNF	MLH1	NGLY1	ABCD1	DHCR7	PSMB8	IQSEC2	TBCD	LHX4	ERBB3	PIGV	LUZP1	GRIN1	TH	DYRK1A	DDC	DES	CD96	RFC2	ABL1	KDM1A	PRNP	PIK3CA	BRCA1	TBL2	TMCO1	TBL1X	UBE3A	ATXN2	NFIX	SDHB	GTF2I	KCNH1	TAOK1	KCNAB2	TFE3	COL1A1	SEMA3C	UGP2	BICRA	CDKN2C	STX1A	CSNK2A1	ATXN8OS	DNAJC30	ZNF292	MT-TE	TBP	RERE	COL5A2	LAMB3	SRCAP	HPSE2	ELF4	HIRA	H4C5	STAG2	MT-CO1	PRKCZ	ACTG2	CACNA1C	SETD5	LMX1B	SREBF1	HESX1	H3-3A	PPP2R1A	POR	SOX2	ARVCF	CACNA1S	ASH1L	FRMD5	BUD23	BIRC3	EPCAM	RPS20	USP7	UFC1	KMT2B	HNRNPH2	CUBN	TRH	SCNN1A	TGFBR2	WFS1	CAMK2B	PMS2	CHST14	TANC2	UBE2A	LAMC2	DMPK	CACNA1A	NAB2	MT-CO2	UBE4B	TYMP	GTF2IRD2	NRXN1	LIMK1	MSL3	DHPS	AMN	PEX16	MLH3	TMEM270	SMPD1	MRPS34	BCL10	TSPOAP1	SIN3A	LAMA3	JMJD1C	BRAF	MED25	PIGS	ELP1	SHQ1	SALL1	ZSWIM6	MT-CO3	DNAJC6	ADNP	GRIA1	MT-TW	FAR1	UFD1	ARID2	KMT2A	GABRA3	CHCHD2	MT-ND1
HP_GASTROESOPHAGEAL_REFLUX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROESOPHAGEAL_REFLUX	PIGN	TSEN2	ZIC2	SEMA3E	NACC1	VPS37D	AASS	HLA-DRB1	ABCD4	FBXL4	CTCF	ASCL1	ARSL	EEF1A2	PLCH1	DEAF1	DNM1	SERPINA1	TGIF1	LTBP4	TMTC3	ZNF699	GABRA5	CASZ1	FBN1	CACNA2D1	CDK19	IPO8	NODAL	TRMT10C	FBXO28	SETD2	EHMT1	KIAA0319L	RET	CDKN1B	IL7R	SIX3	MECP2	EDEM3	MAGEL2	RRM2B	DHCR7	HSPG2	STN1	TCF4	GP1BB	GNAS	TIMM22	ARFGEF2	NTRK2	CCN2	RREB1	KAT6A	KCNQ3	DLL1	SPOP	SKI	SMC1A	ACTL6B	TAF1	CEACAM6	GAS1	PHIP	TYMS	GRIN1	POLG	ZBTB18	STIL	SHH	MED12L	CREBBP	NRCAM	STAG1	USP9X	MLXIPL	SATB2	FOXH1	H3-3B	CACNA1A	FGF8	KMT2C	DST	PAK1	PIEZO1	YWHAG	KAT6B	AGO2	GALC	GCLC	TRAPPC12	ERCC8	TSEN54	TBX1	PRDM16	KNSTRN	DDOST	NALCN	CLTC	LONP1	FKBP6	FLII	KIAA0586	ASXL3	DPP9	KMT2A	POLG2	DPH5	RETREG1	APC2	CSPP1	SPATA5	UBA5	HFE	PDPN	ATN1	EDNRA	EBF3	LRPPRC	SOX5	RAI1	SLC11A1	WAC	CDON	SLC2A10	PRDM13	GLI2	COL4A5	ATP6V1B2	CLIP2	SUPT16H	SLC37A4	SPEN	ARF1	SFTPA1	GABRA2	MIF	EXT2	ABCA3	ATAD1	STAC3	RAD21	PCGF2	RHBDF2	LETM1	FGFR1	NUP214	ATL3	NPHS1	CPLX1	SLC25A4	RERE	CAMTA1	SRPX2	SLC38A3	COL13A1	GLRB	GABRD	SPTBN4	PRUNE1	CHD7	ASPA	CCR6	SCN3A	ADAMTS2	MEIS2	TYMP	CHAMP1	CAV1	SLC6A5	KCNN4	GMNN	NSD2	FOXG1	POGZ	SALL1	SYT1	ALG12	MUC5B	MYO1H	MYH11	SAMD9	FARSB	PACS1	ATP6V0A1	SLC9A6	NSD1	FCSK	SLC25A1	ATP11A	GRB10	CHAT	LIG3	DDB1	TSPYL1	MAP1B	LBR	SLC26A9	IRF5	TSEN34	PSAP	SRCAP	ATRX	CDK13	AARS1	SPTLC1	MGAT2	FGFR3	MMP23B	MAPK8IP3	TRAK1	SLC6A14	MID1	HCN1	COG7	BLM	COMT	ALDH18A1	ASXL1	BAZ1B	AFF4	ELN	CCDC22	SLC6A3	SLC35A2	PHOX2B	SFTPC	EP300	SEC24C	PIEZO2	MCEE	SON	PGM3	EIF4H	SHANK3	WDR26	PIGT	CRLF1	MSR1	SPTAN1	ATP6V1A	SLC13A5	DYRK1A	RNF125	DSP	ERMARD	PSPH	CDKN1A	OCRL	KCNH1	MEN1	TGFB1	ARV1	FBXW7	NONO	CELF2	CNTNAP1	ELP1	HNRNPH1	SYT2	FLCN	SNRPB	FZR1	SYNJ1	CEACAM3	COL5A1	TBX4	STX1A	PARN	AMER1	DISP1	ARNT2	ATP7A	BRD4	EIF5A	PHGDH	ADAT3	HLA-DQA1	PPM1D	ITCH	CPSF3	RPL10	GLYCTK	TERC	SCN8A	CENPT	AFF3	CDKL5	RTEL1	HIVEP2	SPTLC2	MEGF10	NECAP1	MYMK	MAP3K7	CACNA1B	PTCH1	ERCC6	SLC9A3	FGF13	CTBP1	METTL27	ATP1A3	MBD5	SMG9	TDGF1	SYNGAP1	SATB1	AP3B2	SLC12A2	HDAC8	CNKSR2	CLCA4	FAM13A	COL7A1	FGFRL1	DHDDS	CCDC47	GTF2IRD1	ADAR	PI4KA	KCNQ2	SMARCA2	NUP62	TWNK	FGF12	TMEM94	SLC5A7	AP3B1	CDKN2B	MAPK1	NOS1	CHMP1A	TECPR2	RARS2	GNB5	BCL7B	SEC31A	SLC46A1	GON7	GRIA1	NCF1	VAMP1	TOP3A	TRIP4	LAMA2	IQSEC2	LUZP1	PIK3CD	PPP3CA	SZT2	DDC	ARCN1	SLC19A2	DCTN4	RFC2	TBL2	GEMIN4	PORCN	HRAS	NEPRO	NFIX	GTF2I	GABRB2	COL2A1	TERT	LYRM4	ATP1A2	KCNAB2	MED12	PARS2	COL1A1	SIAH1	KIF1A	BICRA	TFAP2A	CDKN2C	KCNA2	MYO9A	PRKCSH	SEC23A	DNAJC30	TBC1D24	ALMS1	SH2B1	ADGRG1	NEDD4L	COL5A2	NIPBL	HLA-DQB1	SLC18A3	HIRA	STAG2	CACNA1I	GLRA1	H4C5	PRKCZ	CACNA1C	SLC1A4	TSEN15	DALRD3	SUCLG1	H3-3A	POR	WASHC5	LRP5	SFTPA2	ARVCF	ADAMTSL2	CLCN4	PUF60	PDHA1	ALG2	ORC1	SMC3	ZBTB7A	COL4A6	BUD23	SNAP25	WWOX	USP7	NEXMIF	SLC25A24	GABRG2	CDC6	FLNA	KMT2B	HNRNPH2	TWIST1	HMOX1	KCNB1	GSTM3	WNK1	ASCC1	CAMK2B	MMP1	DMPK	AGRN	UBE4B	GRIN2D	POLR2A	TTC26	PYCR1	GTF2IRD2	NRXN1	LIMK1	MSL3	ACADVL	SSR4	TMEM270	FMR1	MT-ATP6	MRPS34	CFTR	GABBR2	SEC63	CYFIP2	SCN9A	ORC4	SIN3A	JMJD1C	BRAF	LMNA	RNU4ATAC	ORC6	NUS1	SLC1A2	GPHN	ALG9	CTHRC1	ZSWIM6	ADNP	UFD1	SEPSECS	CHRNA3	ATL1	ARID2	GBA1
HP_ANAL_ATRESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANAL_ATRESIA	PIGN	EXTL3	CHRM3	MKKS	FANCB	WNT7A	PITX2	FOXF1	UBE2T	KIF7	GPC4	RIPK4	FKRP	TWIST2	PERCC1	IRF2BP2	MEOX1	HIRA	CAPN15	CDC45	NBN	NAA10	BRCA2	DYNC2I1	WASHC5	FRAS1	RNU12	SALL4	TNRC6B	GLI3	RECQL4	INTU	KDM6A	KMT2D	CDH1	POMT2	WDR35	SALL1	CTNND1	TBX1	WNT3	BRCA1	RAD51C	MNX1	DACT1	TCTN3	GP1BB	ARVCF	TBX3	DYNC2H1	ZIC3	FANCF	MED12	RREB1	DCHS1	IFT80	NFKB1	RAD51	MAMLD1	EPCAM	FANCL	MID1	FREM2	PALB2	COMT	TWIST1	MYCN	CCDC22	VANGL1	FUZ	SEC24C	KMT2C	NFKB2	EMC1	GRIP1	NDUFB11	SPINT2	FANCM	UBR1	HSPA9	GDF6	UPB1	SLX4	ICOS	TNFRSF13C	COX7B	BCOR	B3GLCT	FKTN	ERCC4	USP9X	MKS1	SIN3A	LONP1	PPP2R3C	MS4A1	ABL1	GPC3	FANCD2	CD81	GATA1	POMT1	FGFR2	MAD2L2	DPYS	TNFSF12	CHD7	FANCA	JMJD1C	PQBP1	DYNC2I2	FANCI	PIGO	AR	FANCE	FANCG	THOC6	LARGE1	BRIP1	EHMT1	CR2	GDF3	HOXD13	AMER1	CD19	PRKCD	CEP120	TNFRSF13B	CCNQ	RFWD3	XRCC2	UFD1	FANCC	RSPO2	HCCS
HP_MALABSORPTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALABSORPTION	FOXP3	PMS1	PRSS2	VPS37D	SLC39A4	APC	IL10	SERPINA1	LIPA	SAR1B	JAK2	TGFB1	PRSS1	TCF3	TLR4	CCBE1	TERT	ADAMTS3	MT-TK	SLCO2A1	FAT4	SLC9A3	LCT	KDM6A	METTL27	AKR1D1	HYOU1	DZIP1L	ASXL1	SATB1	STAT4	SHPK	ENPP1	MTOR	GLA	MSH2	HPGD	CLCA4	NCF1	NHP2	FAN1	CCDC47	PEX3	LIG4	GTF2IRD1	NOP10	PARN	PMM2	CYBA	POLG	IRF4	RMRP	COX4I2	CLMP	TINF2	DNMT3B	EPCAM	KRAS	FLNA	CEACAM6	CYBB	CLTRN	RTEL1	FCGR2A	TJP2	ERAP1	SH3KBP1	ABCB11	HLA-DQB1	PEX6	BCL7B	IGHM	PNLIP	MLXIPL	HSD3B7	CALR	LBR	PEX19	CTNNB1	MLH1	SPINK1	CYBC1	PIK3R1	GCLC	IFNGR1	UBR1	PEX1	TREH	SI	FKBP6	AGA	RFXAP	DCTN4	RFC2	USB1	CTC1	CIITA	PIK3CA	TBL2	PEX13	SLC46A1	ABCB4	PEX12	HFE	MCM6	CYP7B1	GTF2I	EDNRA	NPM1	SLC11A1	MPI	ATP7A	MTTP	SAA1	ARX	CLIP2	CFTR	XRCC4	EFL1	IL12A-AS1	MIF	STX1A	SRP54	SLC6A19	DNAJC30	NSUN2	F5	MT-TE	PTRH2	CD55	BLNK	CCN2	NEUROG3	CTRC	ANTXR2	PEX11B	PERCC1	HLA-B	BTK	SLC29A3	WRAP53	SLC2A2	CAV1	AK2	RFXANK	RECQL4	KCNN4	C4A	KMT2D	TRMT5	MT-TL1	AMACR	IL12A	SBDS	CDCA7	IL23R	DMP1	DKC1	MADD	CCR6	MEFV	ZBTB24	SLC10A2	NCF2	RFX5	PEX5	PEX10	CISD2	DNAJC21	SLC26A9	MSH6	IRF5	TET2	BUD23	CD79B	HELLS	RPS20	SLC6A14	SPINK5	SLC7A7	PEX2	LRRC8A	TYMS	BAZ1B	HMOX1	ACOX2	ELN	HLA-DQA1	GSTM3	SLC5A1	TGFBR2	WFS1	PEX14	PMS2	CCR1	LPIN2	PEX16	PGM3	EIF4H	TYMP	HLA-DRB1	GTF2IRD2	LIMK1	ATP8B1	BMPR1A	APOB	SEMA4A	CBL	MLH3	KLRC4	AIRE	TMEM270	OCRL	RUNX1	RFX6	MYD88	PCSK1	IGLL1	UBAC2	PEX26	CEACAM3	PKHD1	PTF1A	SRSF2	SLC51B	ERCC2	NCF4	FAS	CD79A	TERC
HP_ANAL_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANAL_STENOSIS	FOXC1	FERMT1	NSUN2	MNX1	PITX2	TBX3	GRIP1	CHD7	PIGN	FREM1	CDH11	LIG4	PIGO	RIPK4	DCHS1	NBN	MED12	SMO	CDC45	SNRPB	RMRP	CCNQ	FRAS1	SALL4	AMER1	CACNA1C	KDM6A	KMT2D	FREM2	TP63	SALL1	FAT4
HP_ABDOMINAL_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABDOMINAL_PAIN	PMS1	NLRP3	SDHB	SPINK1	IRF2BP2	SLC40A1	VPS37D	APC	FIP1L1	BRCA1	VHL	TET2	ECE1	JAK2	TERT	TLR4	DNMT3A	HFE	CFH	CDKN1B	TP53	TSC2	ASXL1	CASR	STAT5B	MSH2	FH	SEMA3D	CPT2	GUCY2C	GCGR	PTPN3	CARD8	WT1	TCIRG1	MAX	HBG2	ATP7A	HLA-DQB1	MLXIPL	CALR	MYO1E	PRTN3	MAGI2	EDN3	GLA	MEFV	NUP205	HPS1	TXNRD2	HLA-DPB1	TREH	NLRP12	SI	FKBP6	IKZF1	CPA1	NPHS1	FOXP1	CCND1	PAX2	ALDOB	ABCA1	CDC73	LACC1	TRIM28	ACTN4	SCN5A	CTNNB1	TRIP13	TRPC6	HBB	SAA1	SCARB2	SLC4A1	COL4A5	MMUT	BRCA2	CLIP2	NNT	BCOR	OPLAH	SDHA	ATRX	IL12A-AS1	GNA11	RET	PML	TRPM4	BMP6	F5	SPTBN1	STAT4	SLC12A3	CLPB	MLYCD	TMEM127	EDNRB	HLA-B	ALAD	NR1H4	MDH2	TYMP	PIGT	KRAS	HLA-DRB1	SRSF2	MRAP	PKHD1	NUP93	SERPING1	RRM2B	CLCNKB	MYC	FLI1	COQ8B	FSHR	LIG3	SLC25A11	NOD2	EPAS1	STAT3	MPL	GBA1	PIGY	CTRC	TCF4	MSH6	KIF1B	PTPN22	APRT	STAR	UNC45A	PPOX	HEXB	ALDH4A1	BAZ1B	ELN	BMP2	HLA-DQA1	GNE	HMBS	IRAK1	PRSS1	DAXX	EIF4H	CPOX	FGF13	ERBB3	BMPR1A	NUP107	SEMA4A	KLRC4	CDKN1A	CD2AP	GYPC	POMT1	SDHD	ANK1	MEN1	UQCRH	MC2R	HLA-DPA1	SOX10	NUMA1	P4HA2	ABCG8	SMO	DLST	IL6	DNASE1L3	PRSS2	KIT	ANLN	ZNRF3	IL10	F12	PRKAR1A	CLDN16	MITF	POLG	MALT1	MVK	TBC1D8B	METTL27	SPTA1	H19	CEBPE	GFI1	ABCC2	SPTB	EPB42	STK11	KCNN4	NPHS2	FAN1	GTF2IRD1	ARHGDIA	TNFRSF1A	PTPRO	IRF4	ERBB2	CDKN2B	OTC	CTLA4	CRB2	ERAP1	HS3ST6	NUP37	ABCB11	BCL7B	GPR35	NRTN	CFTR	EMP2	NCF1	GDNF	GAPVD1	MLH1	ABCD1	INF2	APOL1	SYK	DIS3L2	CDKN2A	ANKFY1	IFNGR1	ABCB4	KLF1	RFC2	SPP1	RBCK1	POU6F2	PIK3CA	TBL2	RABL3	PORCN	NF1	RAD21	MCM6	NKX2-5	CD46	CFI	GTF2I	MET	MED12	RARA	PIEZO1	SEMA3C	SLC25A26	CDKN2C	REST	PRKCSH	STX1A	ELANE	PIK3CG	DNAJC30	PALB2	CD55	NABP1	EPB41	ZBTB16	ELF4	G6PD	TSC1	ACTG2	C4A	COL4A3	SREBF1	FLT1	DGAT1	IL12A	IL23R	CEL	PLCE1	BCL11A	PNPT1	LRP5	SDHC	GPC3	NPM1	PALLD	HELLPAR	COL4A6	BUD23	BIRC3	PTEN	HBG1	EPCAM	RPS20	SRP54	CORIN	CASK	TGFBR2	MST1	PMS2	SMAD4	PIGA	ESR1	NUP85	CCR1	DMPK	RNF168	GTF2IRD2	LIMK1	OTULIN	CBL	MIF	ADA2	MLH3	STOX1	TMEM270	LPL	RIPK1	RUNX1	SEMA4D	SEC63	BCL10	ATP8B1	FUS	NUP160	UBAC2	GHSR	EPOR	NUP133	DDIT3	SCN1B	TBL1XR1	EWSR1	ARHGAP24	FAS	SDHAF2	DAAM2
HP_CHRONIC_DIARRHEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_DIARRHEA	IL2RG	WIPF1	NSUN2	FOXP3	ITCH	SREBF1	POLA1	TFRC	SLC39A4	IDS	IL21R	ANTXR2	ADA	IGKC	MVK	PERCC1	CARMIL2	IPO8	KMT5B	DOCK2	BTK	PIK3CD	WAS	IL7R	CASP8	RMRP	ALG1	SLC51A	FCHO1	TKFC	HYOU1	ITGB2	JAK3	ATP7A	CR2	C4B	SAMD9	PIK3R1	RNF113A	DCLRE1C	MADD	RAG2	VPS45	IKBKB	SKIC2	SLC10A2	CCDC47	LIG4	SLC35C1	GUCY2C	TNFRSF1A	NBN	RAG1	CHD7	COG6	CARD8	CLMP	EPCAM	USP7	HEXB	IGHM	ZAP70	ATP6AP1	SLC5A1	LRBA	SON	CYP27A1	ATM	PKP1	BACH2	PPP2R5D	IL6ST	OTULIN	DNASE2	RBCK1	TCF3	REL	IL2RA	IDUA	PGM1	CD3G	STX3	IRF2BP2	MTTP	SAA1	TERT	MGME1	COG4	SLC51B	ETHE1	ASAH1	ERCC2	HEATR3	TOM1
HP_ABNORMAL_ESOPHAGUS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ESOPHAGUS_MORPHOLOGY	UBA2	DCLRE1B	EOGT	PHGDH	SEMA3E	FANCB	IARS1	VPS37D	GLRB	WNT7A	UBE2T	NHP2	FGFR2	STAT1	LIPA	PDGFRB	JAK2	ERCC4	DOCK8	STN1	NOTCH1	POLR1C	PHKA2	TMEM67	FANCD2	APC	DYNC2I1	TERT	METTL27	DLL4	WDR35	DZIP1L	COL7A1	ACD	TCF4	SLC12A2	GREB1L	NCF1	STK11	GDF2	NOP10	GTF2IRD1	DOCK6	ATP7B	PARN	CYBA	CARD8	MMP1	IFT80	RMRP	TINF2	SMAD4	MAMLD1	FANCL	CYBB	FGF20	PROKR2	RTEL1	PALB2	RPL11	MYCN	ACVRL1	PAICS	FERMT1	BCL7B	DYNC2H1	LMBRD1	MLXIPL	WWOX	BRCA2	CALR	HLA-B	FBN2	YY1	CYBC1	PDGFRA	GMPPA	TGFB2	PGM3	FKBP6	IKZF1	ARNT2	RAD51C	CDKN1B	RFC2	USB1	CTC1	LZTS1	TBL2	SOX3	TGFB3	REL	RAD21	TGFBR2	MAD2L2	GTF2I	CHD7	MED12	NPM1	SDHC	FANCA	DYNC2I2	FANCI	DKC1	AR	SMARCD1	KIT	SLC2A10	COL4A5	CLIP2	BRIP1	FOXF1	RFWD3	XRCC2	MID1	STX1A	GBA1	ATAD1	ITGB4	DNAJC30	RHBDF2	ALMS1	F5	SDHA	DCDC2	RET	STXBP1	LAMB3	FH	CARMIL2	GNB2	ELF4	ITGA6	GLRA1	ADAMTS2	WRAP53	POLR1D	TCOF1	SLC6A5	INTU	LMX1B	PKHD1	SALL1	MYH11	SAMD9	HESX1	PLEC	BRCA1	FARSB	KRT18	EFTUD2	SOX2	ADAMTSL2	GRB10	RBPJ	ARHGAP31	NCF2	KIF12	FANCF	AAGAB	COL4A6	COG6	POLR1B	PAH	BUD23	WNT9B	BLM	PLA2G4A	TYMS	BAZ1B	ELN	GIMAP5	SDHB	MEN1	POLA1	NOTCH3	SLC30A10	ASCC1	OTX2	SIX6	KIF3B	RNF6	FANCM	LAMC2	SMAD3	SLX4	DLEC1	GBE1	TGFB1	EIF4H	TTC26	MSR1	GTF2IRD2	LIMK1	COL14A1	ADA2	CBS	DGUOK	ZIC3	PSPH	BRAF	TOM1	TMEM270	PHKG2	FGFR1	ITGA8	LAMA3	ENG	PDE11A	FANCE	FANCG	TRAPPC11	PRKAR1A	GPHN	CTHRC1	HOXD13	GFRA1	RAD51	DCC	FANCC	WBP11	NCF4	TGFBR1	ATP7A	TERC
HP_ESOPHAGEAL_ATRESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ESOPHAGEAL_ATRESIA	ITGB4	HESX1	PLEC	FANCB	POLA1	DYNC2H1	FGFR2	EFTUD2	MYCN	SOX2	FGFR1	OTX2	SIX6	CHD7	FOXF1	DYNC2I2	AR	SMARCD1	YY1	ERCC4	PAH	IFT80	RMRP	FANCD2	MAMLD1	DYNC2I1	FANCL	ARNT2	PROKR2	WDR35	WBP11	ZIC3	SOX3	PAICS
HP_POOR_SUCK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POOR_SUCK	UBE3A	SLC25A1	TSEN2	ZIC2	AASS	STIL	PLCH1	ARHGAP29	GRHL3	MKRN3	TGIF1	ZNF699	KMT5B	IDH1	NODAL	RTL1	DPYD	COL13A1	PTCH1	MTM1	ATPAF2	TDGF1	SIX3	UBA1	MAGEL2	NDUFS2	NDUFB8	NDUFS8	UQCRC2	PDGFRA	PEX19	DLL1	IRF6	PTPN23	FOXH1	SLC5A7	GAS1	FGF8	SHH	RARS2	PPP1R21	ECHS1	TP63	DST	VAMP1	DHCR7	CHAT	TSEN54	DLK1	CDH1	DYRK1A	HRAS	SMARCC2	ARID1A	BMP4	DISP1	CNTN1	COL2A1	LYRM4	SIK1	CDON	SCO2	PLAA	GLI2	ATP6V1B2	HERC2	UGP2	MSX1	GLRA2	PEX2	PQBP1	MYO9A	MT-TE	SATB2	NPAP1	TBC1D24	RHBDF2	FGFR1	NUP214	SLC25A22	ATRX	SNORD115-1	RERE	SPTBN1	UBB	NUDT2	HTRA2	SNRPN	NAA20	PWRN1	SPTBN4	COLQ	SLC18A3	TSFM	ASPA	GNB2	CHRND	STAG2	SNORD116-1	PWAR1	VRK1	TSEN15	SOX11	CHRNA1	SURF1	RAPSN	NDUFAF3	TSEN34	SNAP25	PTS	USP7	MEG3	CHRNB1	GGPS1	LAMB2	NECTIN1	AGRN	PEX5	OCA2	SMC1A	SIM1	ATP6V0A1	BRAF	HADHB	HADHA	NONO	SYT2	SMARCB1	CHRNE	DLX4	POGZ	SLC52A1	TRIO	SEPSECS	DLG1	TRMU	ATP7A	TALDO1
HP_ABNORMAL_RECTUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RECTUM_MORPHOLOGY	PMS1	DNAJC30	NSUN2	VPS37D	SDHA	TTC7A	SDHD	POLE	FREM1	SDHB	SMAD4	COL5A2	KIF7	NCF1	SERPINA1	LTBP4	MKKS	BMPR1A	USF3	TGFB1	POLR1C	DOCK2	APC	NAA10	NDUFB11	POLR1D	RNU12	TCOF1	SALL4	MSH3	SLC9A3	KCNN4	METTL27	ITGB2	SALL1	ELN	MYH11	SEC23B	PI4KA	RAD51C	CYBB	MNX1	POLD1	CFTR	MSH2	TCTN3	COX7B	CLCA4	STK11	FAN1	HCCS	INSR	DDB1	LIG4	DICER1	GTF2IRD1	MDM2	SLC26A9	MSH6	POLR1B	BUD23	PTEN	NTHL1	EPCAM	RPS20	KRAS	CEACAM6	CDKN2A	SLC6A14	IGHM	MID1	FCGR2A	BAZ1B	HMOX1	ENG	KIT	CDK8	GSTM3	BCL7B	MLXIPL	TGFBR2	MUTYH	PMS2	MLH1	SPINT2	CHEK2	DACT1	VANGL1	EIF4H	BCOR	PDGFRA	GCLC	GTF2IRD2	PIGV	LIMK1	UBR1	LONP1	NCF2	FKBP6	SEMA4A	AKT1	DCTN4	MLH3	RFC2	AXIN2	RECQL4	PIK3CA	TBL2	RAC2	TMEM270	RNF43	IL10RB	HFE	GTF2I	EDNRA	SDHC	CYBA	PDE11A	OTUD5	TP53	SLC11A1	LMNA	CCBE1	PRKAR1A	COL1A1	CLIP2	KEAP1	PIGN	CEACAM3	KLLN	COL5A1	CCNQ	STX1A	RPS6KA3	GREM1	MIF	JAK3
HP_RECTAL_PROLAPSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECTAL_PROLAPSE	DNAJC30	GSTM3	BCL7B	MLXIPL	NSUN2	VPS37D	NCF1	COL5A2	SERPINA1	LTBP4	BMPR1A	EIF4H	TGFB1	BCOR	GCLC	GTF2IRD2	LIMK1	NAA10	FKBP6	SLC9A3	KCNN4	METTL27	DCTN4	RFC2	ELN	MYH11	TBL2	TMEM270	CFTR	HFE	CLCA4	GTF2I	EDNRA	STK11	INSR	LIG4	GTF2IRD1	SLC11A1	LMNA	CCBE1	SLC26A9	COL1A1	BUD23	CLIP2	PTEN	CEACAM3	COL5A1	SMAD4	CEACAM6	STX1A	RPS6KA3	SLC6A14	MIF	FCGR2A	BAZ1B	HMOX1
HP_HIATUS_HERNIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIATUS_HERNIA	TGFB3	SLC2A10	TPRKB	WDR73	TCF4	GLRB	GON7	ADAMTSL2	TP53RK	NUP133	CHST14	CAMTA1	COL5A2	LAGE3	NIPBL	C1R	OSGEP	ZBTB7A	TNXB	ZNF699	SLC6A5	MED12	COL1A1	GPHN	GLIS3	GLRA1	ADAMTS2	COL5A1	PORCN	ALDH18A1	NUP107	ATP7A	WDR4	MYH11	ATAD1
HP_INFLAMMATION_OF_THE_LARGE_INTESTINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFLAMMATION_OF_THE_LARGE_INTESTINE	FOXP3	DCLRE1B	PIK3CG	UNC13D	F13A1	XIAP	GPR35	WIPF1	NCF4	HLA-B	RIPK1	RTEL1	POLA1	LRBA	MST1	NOD2	PRKCD	STXBP2	FAS	STAT1	PLCG2	PRF1	MEFV	FERMT1	TGFB1	SYK	SKIC3	CARMIL2	ELF4	CASP10	BACH2	DOCK2	PIK3CD	WAS	F13B	CYBC1	HPS1	NLRC4	PSTPIP1	DEF6	RET	TNFAIP3	RFXANK	IL10RA	ACADVL	RFXAP	FCHO1	IL37	ARPC1B	IL21	SLC37A4	RBCK1	FASLG	CIITA	MYH11	TOM1	ABCB1	IL10RB	SKIC2	SEMA4D	IVNS1ABP	BCL10	RASGRP1	JAK1	INAVA	IRGM	RFX5	PIGY	TCF4	FCN3	ELANE	COG6	CARD8	ZAP70	STX11	MASP2	PI4KA	TTC7A	OPLAH	GPIHBP1	SLC9A3	HLA-DRB1	MAP3K7	IL6
HP_PROTEIN_AVOIDANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROTEIN_AVOIDANCE	SLC25A15	CPS1	ASS1	OTC	ASL
HP_ANOREXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANOREXIA	PML	SLC1A3	SLC4A1	IRF2BP2	HLCS	ATM	SLC39A4	PALB2	FIP1L1	BRCA1	IL10	IFNGR1	NABP1	BRCA2	ZBTB16	HLA-B	TLR4	IL12B	MLX	AVPR2	KRAS	C4A	CDKN1B	TP53	ARG1	MRAP	PKHD1	IL12A	ASXL1	JAK2	STAT4	STAT5B	IL23R	TGFB1	GLA	FLI1	AQP2	ATP1A3	MEFV	HMGCL	NPM1	PALLD	STAT3	HLA-DRB1	MMADHC	GBA1	PTPN3	TET2	PTPN22	IRF4	STAR	CD247	NFS1	SLC19A2	CDKN2B	CD3E	PRKAR1A	ATP1A2	ERAP1	ALPL	SLC46A1	CALR	CCND1	SMAD4	CCR1	CACNA1A	DAXX	SYK	CDKN2A	TXNRD2	MECP2	CBL	CBS	KLRC4	CDKN1A	RABL3	RUNX1	MEN1	MYD88	MC2R	RARA	UBAC2	NUMA1	SCARB2	MMUT	ACAT1	P4HA2	NNT	CD3D	SRSF2	BCOR	MPL	CDKN2C	TBL1XR1	ATRX	IL12A-AS1	FAS
HP_ESOPHAGEAL_VARIX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ESOPHAGEAL_VARIX	GIMAP5	EOGT	FARSB	LIPA	PHKG2	KRT18	ALMS1	TMEM67	CALR	F5	SLC30A10	NOTCH1	KIF3B	MED12	RBPJ	ENG	ARHGAP31	GDF2	DCDC2	KIF12	JAK2	DOCK6	ATP7B	GBE1	TTC26	COG6	STN1	GNB2	PHKA2	SMAD4	PKHD1	ADA2	CBS	DGUOK	DLL4	GBA1	DZIP1L	ACVRL1
HP_INTRACTABLE_DIARRHEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRACTABLE_DIARRHEA	SYK	SKIC3	ITGB4	SMARCD2	C5	PLEC	EPCAM	SKIC2
HP_ESOPHAGEAL_STRICTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ESOPHAGEAL_STRICTURE	COL7A1	DCLRE1B	SAMD9	MMP1	PGM3	TERT	HLA-B	IKZF1	LAMA3	NHP2	DKC1	NOP10	LAMC2	LAMB3	MYH11	FERMT1
HP_ZOLLINGER_ELLISON_SYNDROME	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ZOLLINGER_ELLISON_SYNDROME	CDKN2C	CDKN1B	MEN1	CDKN2B	ATRX	YY1	PIEZO2	CDKN1A	DAXX
HP_HYPOTHERMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOTHERMIA	MMACHC	TPO	DGUOK	MT-ND2	POU1F1	MICOS13	HESX1	ATP7A	IYD	TSHB	DUOX2	LHX4	NTRK1	COA6	MT-TW	MT-ND1	SLC25A20	TG	SCN10A	MT-TL1	DDC	MT-ND5	MT-ND6	DUOXA2	SCN11A	MT-ND3	TSHR	SUCLG1	SCN9A	MT-ATP6	LHX3	MT-ND4	HMGCL	BRAT1	PAX8	DBH	TSPYL1	HLA-DRB1	PROP1	LMNB1	UQCRFS1	MT-TV	MT-TK	GABRA2	SLC5A5	SLC52A1	BTNL2	ACADVL	TBCK	ACADSB	P4HTM
HP_HEAT_INTOLERANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEAT_INTOLERANCE	KRT14	UBE3A	HNRNPK	LBX1	LDHA	NFKBIA	ITPR2	POFUT1	MAP2K1	ALOXE3	PSENEN	EDA	CLDN10	MBTPS2	ORAI1	EDARADD	EDAR	POGLUT1	KRT5	OCA2	SHANK3	NECTIN4	MAP2K2
HP_MALIGNANT_HYPERTHERMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALIGNANT_HYPERTHERMIA	RYR1	SCN4A	ATP2A1	CLCF1	STAC3	CHRNA1	ABCA12	DNM2	MTMR14	CHRNG	SCN5A	EDAR	PGM1	MYH3	CACNA1S	MYF6	ELP1	TRAF6	CRLF1	EDARADD	KDF1	BIN1	TRAPPC9	NALCN	HSPG2	CHRND
HP_PROXIMAL_RENAL_TUBULAR_ACIDOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_RENAL_TUBULAR_ACIDOSIS	EHHADH	OCRL	ALDOB	UQCC2	GATM	CA2	SLC34A1	NDUFAF6	GATA3	SLC4A4	PC
HP_ABNORMALITY_OF_THE_GLABELLA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_GLABELLA	DLK1	TASP1	PUS7	TP53RK	LETM1	ASXL2	CPLX1	FGFRL1	SPTBN1	LMBRD2	ALX1	NF1	RSPO2	NBAS	INTS8	MEG3	H4C5	BICRA	TMEM53	CTBP1	RTL1	NSD2	ZSWIM6	FBN1	DPM1	SPOP
HP_MYOPATHIC_FACIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOPATHIC_FACIES	GFM2	DPM2	DMXL2	MAP3K20	MYH7	MYL1	TANGO2	VAMP1	SLC6A8	SLC52A3	TPM3	KCNH1	NEB	SLC16A2	LRP12	GLE1	NOTCH2NLC	PIEZO2	MYH2	LAMA2	GMPPB	RYR1	SPTBN4	SCYL2	ERGIC1	SLC6A9	VPS41	KNSTRN	PURA	MYL2	PIK3CD	COL25A1	MSTO1	TPM2	ITGA7	UBA1	STAC3	SGCB	KLHL41	ACTA1	EBF3	GIPC1	TAFAZZIN	BCL11B	HACD1	TNPO2	SELENON	CERT1	PYROXD1	HOXB1	CCDC174
HP_LOWER_LIMB_SPASTICITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_LIMB_SPASTICITY	NDUFV2	PNPLA6	SLC33A1	PLP1	SPART	NDUFA9	SPG7	HSPD1	PI4KA	SETX	HPDL	FA2H	GJC2	SACS	KIF1A	DSTYK	KIF5A	RAB18	OPA3	RNF170	RNASEH2C	SPG11	FARS2	CYP2U1	VPS41	RNU7-1	RTN2	MT-ATP6	ALDH18A1	NDUFS7	NIPA1	ARX	PAX3	COASY	ARG1	UCHL1	IFIH1	ATL1	SYNE1	SATB1	DDHD1	MAG	AP4B1	PDHX	SLC25A15	NDUFA13	SDHA	MARS1	SLC2A1	COX15	KLC2	EIF2AK1	MECP2	ATP13A2	MICOS13	ERCC4	ALS2	MTPAP	ERCC8	NDUFA2	CLCN4	EDNRB	SOD1	SPAST	VPS37A	NDUFA12	MTFMT	RNASEH2B	TBCE	GBA2	GFM2	FLRT1	UBE4A	TECPR2	ELOVL1	NDUFAF2	RARS2	LAMB1	KPNA3	CNTNAP2	KY	CPT1C	ERLIN1	ZFYVE27	NT5C2	SLC30A10	WASHC5	PPP1R15B	ABCD1	SPTLC1	IBA57	GALC	AP5Z1	FOXRED1	TBCD	INTS8	CLTC	FUS	KIDINS220	NEU1	L1CAM	AIMP1	ARL6IP1	VWA3B	ZFYVE26	KDM5C	HACE1	NDUFA10	FBXO7	TTC19	DDHD2	CYP7B1	GATAD2B	GAMT	TREX1	USP8	VCP	POLG	NDUFS3	BICD2	HEPACAM	PNP	ERCC6	PGAP1	VAMP1	GBA1	DARS1	MAN2B1	NDUFA4	SOX10	NDUFS2	ADGRG1	BSCL2	RARS1	NDUFS1	SRPX2	OPA1	LIPT1	RNASEH2A	COQ5	SPG21	PRUNE1	CCDC88C	ODC1	REEP1	TMEM63C	AP4E1	RNF220	H4C5	WDR45B	SDHB	CACNA1C	SLC1A4	TACO1	INPP5K	NDUFV1	AFG3L2	ZFR	AP4M1	MTRFR	GOT2	SLC19A3	PDHA1	AP4S1	B4GALNT1	ATXN10	ERLIN2	PSAP	ACTL6B	TPK1	TOE1	LSM11	GAN	NDUFS8	IDUA	WDR45	SELENOI	GPT2	NEXMIF	TRMT10A	CCT5	POLR3GL	PET100	SATB2	CACNA1D	GJA1	CAMK2B	SLC16A2	CYP27A1	UBAP1	NDUFAF6	STXBP1	SDHAF1	REEP2	C19orf12	BCOR	DNM1L	PIGA	ARSI	PEX3	ATRX	ERCC1	WDR48	MED13L	RAB3GAP2	BTD	PEX16	SAMHD1	ADAR	MRE11	ALDH3A2	ATP5MC3	CAPN1	AIFM1	SDHD	PRRT2	LYST	WWOX	ABHD16A	GFAP	AMPD2	ECHS1	SIGMAR1	TFG	ATP6AP2	SURF1	NDUFS4	STUB1	ALG9	NDUFAF5	ENTPD1	FAR1	DNAJC19	MTHFR	GBE1
HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_PYRAMIDAL_TRACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_PYRAMIDAL_TRACT	ATL1	DNAJC30	GALC	BCL7B	SLC33A1	MLXIPL	KPNA3	VPS37D	VAPB	FUS	CPT1C	NCF1	UBAP1	MT-ATP6	DEAF1	PRNP	NEFH	TBK1	WASHC5	SLC19A3	IQSEC2	EIF4H	FKTN	SPG11	PRPH	GTF2IRD2	LIMK1	RTN2	L1CAM	FKBP6	TREX1	NIPA1	SOD1	C9orf72	FLII	L2HGDH	ABCD1	METTL27	TARDBP	RFC2	MAPT	RAD51	ALS2	TBL2	SQSTM1	SLC6A3	TMEM270	DCTN1	AIFM1	PDHB	DPYS	SLC2A1	GTF2I	PLA2G6	DCC	RAI1	GTF2IRD1	PRKRA	NTN1	DNAL4	BUD23	CLIP2	CHCHD10	SPAST	ATP1A2	ATXN10	GAN	CTC1	SPG7	KCNC3	VCP	STX1A	BAZ1B	PLP1	ELN	ATXN8OS
HP_RIGIDITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIGIDITY	PODXL	SLC20A2	GLRB	EIF4G1	SCN8A	GCDH	TBP	EEF1A2	GJC2	CP	DNM1	HTT	CRYAB	DAB1	KCND3	SNCA	GABRA5	PRKCG	CACNA2D1	NECAP1	CDK19	RNASEH2C	CACNA1B	RNU4ATAC	CSF1R	ATP13A2	RNU7-1	ADAR	TMEM240	KRAS	VPS35	FGF13	MT-TT	PRKN	SYNJ1	ATP1A3	COASY	GBA1	ATL1	SYNGAP1	ATXN8OS	DDHD1	MME	AP3B2	ABCA12	RRM2B	COQ2	CNKSR2	SCN9A	UBTF	PLA2G6	DHDDS	RAB39B	TUBB4A	SPR	NTRK2	ATP7B	GALC	GLUD2	NUP62	UQCRC1	TWNK	FBXO7	FGF12	ACTL6B	LRRK2	PINK1	POLG	VPS13C	SNCAIP	FRRS1L	RYR1	RNASEH2B	ITM2B	PDE8B	PSAP	CACNA1A	NOTCH2NLC	CHMP2B	SLC38A3	NR4A2	MECR	SLC30A10	YWHAG	PARK7	LOXL1	PDGFB	PCDH19	PNKD	ATP6AP2	PPP3CA	DCTN1	NDUFAF6	SZT2	GLB1	ATXN2	TH	MECP2	KIF11	UCHL1	MAPT	CLN3	PRNP	CHKA	C9orf72	HLA-DQB1	DDHD2	GABRB2	BRAT1	INPP5K	WWOX	ATP1A2	AARS1	ARX	GAMT	PARS2	PLAA	IMPDH2	TREX1	DHCR24	ACTA1	KCNA2	GABRA2	SCN1B	FOXRED1	ATAD1	SLC1A3	CTSD	SLC25A4	OPA3	EIF2AK2	NAXE	ADH1C	DNAJC6	GIGYF2	RNASEH2A	ARSA	HTRA2	ASPA	MYO5A	SCN3A	GLRA1	SLC6A5	PANK2	RANBP2	DNAJC13	DALRD3	SLC6A3	SEMA6B	HTRA1	FGFR1	SCN1A	GCH1	GABRG2	FMR1	LSM11	PTS	WDR45	TRAK1	HCN1	KCNN2	KCNB1	REEP2	CLTC	SCN2A	MICU1	LNPK	JAM2	JPH3	PRRT2	CASK	GRIN2D	SLC19A3	SIL1	IFIH1	ATP6V1A	SLC2A3	SLC13A5	C19orf12	PEX16	SAMHD1	PTCD3	PDGFRB	SMPD1	MT-ATP6	GABBR2	ARV1	CYFIP2	TSPOAP1	GFAP	TAF1	POLG2	LDHA	ATXN3	CELF2	UBA5	TK2	NUS1	SLC1A2	STUB1	GPHN	FZR1	AFG3L2	KCNA4	OGDH	FTL	GABRA1
HP_SPASTIC_GAIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTIC_GAIT	ALDH18A1	SLC33A1	SPART	SPG7	HSPD1	BSCL2	KIF1A	DSTYK	VAMP1	KIF5A	ERLIN2	ALS2	SLC39A14	REEP1	VCP	SPG11	TMEM63C	RTN2	FUCA1	NIPA1	ABCD1	ARG1	ATL1	DDHD1	ZFR	SLC25A15	MAG	MFSD2A	AP5Z1	CACNA1G	ERLIN1	WDR26	SACS	POLR3B	MECP2	B4GALNT1	SHMT2	DDHD2	SPAST	GJC2	CCT5	PLP1	REEP2	GBA2	TECPR2	KPNA3	FAR1	CPT1C	CYP2U1	UBAP1	ZFYVE27	NT5C2	WASHC5	ARL6IP1	C19orf12	TACO1	AMPD2	ARSI	FARS2	APC	KIDINS220	WDR48	ERCC6	ATAD3A	UBA5	ZFYVE26	WLS	FBXO7	ATP6AP2	LMNB1	KCNA1	USP8	KCNA4	CYP7B1	PGAP1
HP_GAIT_ATAXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GAIT_ATAXIA	FXN	C12orf4	EEF2	VLDLR	GRM1	RPL10	GDAP2	RFC1	AFG3L2	CUL4B	HPDL	CDKL5	SACS	GRIA2	KCND3	ATCAY	FGF14	PDYN	PRDX3	PRKCG	DNAJC3	RFXAP	MT-ND1	NEFL	FBXO28	LMNB2	TMEM240	MORC2	FMR1	MT-ND5	PEX10	THG1L	ATXN8OS	KCNC3	MECP2	VPS51	PSAP	MME	RRM2B	ANO10	RNF113A	ATN1	ARID1B	POLG	SCN9A	PNPLA6	IQSEC1	TCF4	SH3TC2	ADSL	ITPR1	PRX	AP2M1	SLC25A46	PODXL	LETM1	CACNA2D2	CWF19L1	ADAR	PDP1	TPP1	DKK1	NARS1	MTPAP	ABCA2	NUP62	TWNK	RFXANK	MARS2	FDXR	UROC1	KDM5B	ATP1A3	GTF2H5	LARS2	SCARB2	PRDM13	HEXB	COQ2	CP	CHMP1A	TECPR2	MPZ	PMPCA	RNU12	SETX	PPP1R21	GRIN2A	GABBR2	GTPBP2	ATP13A2	PAK1	DOCK3	UBTF	MPLKIP	PCDH19	NOP56	RAB11B	TBP	SCYL1	FA2H	ATXN3	TH	TRAPPC6B	ARCN1	ATAD3A	UBA5	MT-ND6	TUBB4A	GTF2E2	BRAT1	FLVCR1	MT-ATP6	TMEM106B	PRNP	PRRT2	RUBCN	UBE3A	LITAF	OPHN1	HLA-DQB1	ELOVL4	MT-ND4	EBF3	EIF2S3	SMC1A	GPAA1	MTTP	LMNB1	IMPDH2	FAT2	CACNA1A	MRE11	SPG7	CTBP1	ATP1A2	NUS1	SCN1B	HTT	COA7	VPS41	ERCC3	SLC25A4	MT-ND2	TANGO2	CAMTA1	EIF2AK2	GBA2	ERMARD	DNAJC6	NAA20	KIF1C	TRPC3	ARSA	RFX5	PLA2G6	BEAN1	AASS	SCN8A	TBC1D24	CAV1	CHAMP1	VPS13D	PEX6	PMP22	PPP2R1A	GRID2	TARS1	ELOVL5	CACNA1G	PNPT1	SLC9A6	CLCN2	STUB1	AP1S2	SCN1A	ATXN10	HERC1	GCH1	CARS1	IFRD1	TPK1	GABRG2	MT-TV	POU3F4	NR4A2	MT-TK	ALDH18A1	ACOX2	SLC9A1	SCN2A	ERCC2	CCDC88C	GRIK2	PCNA	APTX	MAN2B1	PIGG	NTNG1	SYNE1	SQSTM1	SLC19A3	WDR26	NPC1	MT-TW	SPTBN2	POLR3B	ERBB3	TBC1D2B	TGM6	MT-TL1	BSCL2	PEX16	SIL1	WWOX	MT-ND3	PPP2R5D	PPP1R15B	CAPN1	SMARCA2	TSPOAP1	POLG2	MAB21L1	SDHA	DEAF1	ATXN2	CLN8	OGDH	SYNJ1	SNRPN	TRIO	GABRA1	GJB1	NAXD	CIITA	PLD3	XRCC1	HSD17B4
HP_BRADYKINESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRADYKINESIA	ATXN8OS	KLHL41	SCN1A	PODXL	VPS35	SNCA	POLG	SLC20A2	UCHL1	SLC25A4	EIF4G1	HTT	ATP5MK	EIF2AK2	TBP	ADH1C	DNAJC6	MAPT	GIGYF2	PLA2G6	PRDX3	HTRA2	ATP1A3	SLC39A14	SCN1B	PRKAR1B	ATP13A2	TPM2	MT-TT	PRKN	FMR1	SYNJ1	DNAJC13	STX1B	COASY	GBA1	ATL1	GABRG2	KCNC3	SLC6A3	RRM2B	NR4A2	COQ2	SCN9A	MYORG	NEB	SPR	EIF2AK1	MECP2	PRKRA	DNAJC12	GCH1	GLUD2	DHDDS	PANK2	UQCRC1	TWNK	FBXO7	FTL	ATXN10	PTS	WDR45	GABRD	LRRK2	PINK1	VPS13C	PIDD1	SNCAIP	VPS13A	KCNN2	PRNP	KBTBD13	SCN2A	PDE8B	JAM2	SLC30A10	JPH3	PARK7	EARS2	PDGFB	PCDH19	CSF1R	TPM3	TACO1	ACTA1	ATXN1	FARS2	ATP6AP2	CLTC	DCTN1	SLC2A3	ATXN2	TH	C19orf12	ADGRV1	PDGFRB	CLN3	PPP2R2B	TTC19	TSPOAP1	TAF1	POLG2	HCN1	ATXN3	MYPN	TK2	PET117	IMPDH2	RAB39B	GABRA1	CHCHD2
HP_NEUROMUSCULAR_DYSPHAGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEUROMUSCULAR_DYSPHAGIA	COQ2	KBTBD13	KLHL41	GALC	MAPT	NEB	TPM3	ACTA1	FARS2	MYPN	TPM2
HP_BILATERAL_TONIC_CLONIC_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_TONIC_CLONIC_SEIZURE	SCN2A	MT-ND4	SCN1A	DEPDC5	TSEN2	GABRA3	KCNMA1	SPATA5	MT-ND6	HNRNPU	GRIA2	GPT2	PURA	PSAP	CACNB4	MT-ND1	PIGY	FBXO28	CNTN2	SETD2	PDX1	MT-TC	STX1B	AP3D1	PGAP1	DPYSL5	SPATA5L1	VCP	ATP1A2	TRIM8	EPM2A	SCN9A	MT-TL1	ASAH1	PUS3	TUBA8	SUOX	ALDH5A1	GABRD	SYNGAP1	GRIN1	ADORA2A	ADGRG1	AP2M1	MT-CO1	GRIN2A	PRRT2	HSD17B4	GRN	GAMT	GABRA5	GABRB3	KCNB1	FIG4	LGI1	CPA6	KCTD7	VAMP2	CABP4	TSEN54	MT-ND5	SRPX2	PIGQ	MACF1	FA2H	PIGF	SLC12A5	DMXL2	UFSP2	LBR	MT-TK	DPH5	APC2	MT-ATP6	NPRL2	EFHC1	ZNF526	MT-TS2	RELN	MT-TW	WAC	GNB1	GOSR2	CPLX1	MICAL1	KCNJ11	ATP6V1B2	POLG	SIK1	MT-TQ	SETD1B	SCN1B	SATB2	SLC1A3	NUP214	DHX16	GPAA1	CIC	CAMTA1	SLC38A3	CHD2	CACNA1H	TBC1D24	ASPA	KCNQ3	ARFGEF1	HID1	GRM7	ZMYND11	KMT2D	PCDH19	AFG3L2	GABRG2	RNF13	SLC2A1	DOHH	PTEN	NSD1	MAPK10	KCNT1	STUB1	JRK	CDKL5	TSEN34	CLPB	MT-TV	SP110	PIGT	CACNA1A	HEXB	PSEN1	ZNF142	SCN8A	CACNA1D	PLCB1	PIGG	CLN3	COQ2	CASK	KCNC2	PGAP3	WDR26	SLC22A5	NAA10	MARCHF6	CRH	FGF13	CLN6	ERCC6	MT-TF	ATP6V0A1	PDSS2	GJA8	GABRA1	PIGO	NPRL3	PSPH	COX8A	C9orf72	DNAJC5	EZH2	PIGP	TMX2	WWOX	YIPF5	TREM2	YEATS2	PLPBP	HCN1	SLC1A2	TXN2	PPP3CA	STARD7	CHMP2B	PHGDH	NEK1	UBE3A	CLCN3	GLYCTK	KCNK4	ACTL6B	MT-CYB	CARS2	AFF3	CILK1	RAB18	GAL	CHRNA4	PLCH1	PPIL1	KDM6A	PIGV	GABBR2	ADAM22	ACO2	NDUFS4	MT-CO3	THOC2	MT-TH	CLN8	ATP1A3	PEX5	WDR62	EEF1A2	SLC25A22	PAK3	DNM1L	NARS1	DNM1	TMEM94	GNAO1	GRIA3	TP53	PIDD1	FRRS1L	GRIN2B	VPS13A	ACADM	CHRNB2	UBE4A	PCYT2	COL4A2	NEXMIF	SETD1A	GPHN	CNTNAP2	NDUFA4	NR4A2	GTPBP2	NDUFAF4	TBCD	SMC1A	PRPS1	ARX	KCNQ2	DYRK1A	TRAPPC6B	ADGRV1	HACE1	PPFIBP1	NHLRC1	CUX2	LMAN2L	KIF4A	ATP6AP2	SQSTM1	CCDC88A	CHRNA2	GLRA2	CLCN2	MOCS2	TRAPPC11	HHAT	SLC9A6	NUS1	GBA1	KCNA1	RORB	MT-ND2	ATRX	CERS1	TANGO2	STAT3	CSTB	SCN3A	ST3GAL5	COQ5	VPS53	TSFM	KPTN	NBEA	TUBA1A	ATP5F1D	ABCC8	SLC1A4	TSEN15	LAMC3	DOLK	CLCN4	RPL10	PDHA1	HCN2	METTL23	CDC40	SLC6A5	SLC7A6OS	HERC1	DHDDS	TMEM106B	SARDH	PGAP2	CERT1	GYS1	GCK	ALDH7A1	NIPA1	KCNN2	LONP1	LGI4	OGDHL	PYCR2	GRIK2	GJA5	CAMK2B	STXBP1	MT-CO2	PIGW	SARS1	HTRA1	ACADVL	BTD	MT-ND3	EXOC8	INS	MAPT	SAMD12	NEUROD2	CEP85L	IQSEC2	GAD1	PIGS	GNAI1	ADPRS	CLTCL1	OGDH	SLC25A19	SLC6A1	FAR1	D2HGDH	SEPSECS	BUB1B	MTHFR	PNKP	PIGL
HP_LIMB_ATAXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_ATAXIA	VPS41	FXN	EEF2	AFG3L2	CERS1	FGF12	KCND3	VAMP1	SYT14	FGF14	BEAN1	PDYN	PRDX3	PRKCG	TBC1D24	NEFL	VPS13D	RTN2	VRK1	MSTO1	SCN1B	PEX10	ATXN8OS	KCNC3	COX6B1	MME	ANO10	ATN1	ABCD1	NKX6-2	STUB1	CLCN2	TBC1D23	POLG	TMEM240	TPP1	ATXN10	ATXN1	MTPAP	PRICKLE1	CP	GRID2	SLC9A1	MPZ	PMPCA	JAM2	SETX	CSTB	COQ2	UBAP1	APTX	MAN2B1	WASHC5	SYNE1	SQSTM1	NOP56	ITPR1	TBP	SPTBN2	SCARB2	ATXN2	TGM6	UBA5	SIL1	WWOX	PRNP	RUBCN	RFC1	ELOVL4	CWF19L1	CYP7B1	ELOVL5	CXCR4	CAPN1	ATXN3	SDHA	SLC30A9	FAT2	PMP22	GJB1	PLD3	GBA1	XRCC1
HP_ABNORMALITY_OF_EXTRAPYRAMIDAL_MOTOR_FUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_EXTRAPYRAMIDAL_MOTOR_FUNCTION	SCN1A	SLC20A2	VPS37D	VCP	EIF4G1	HTT	MTHFS	SNCB	TBP	SNCA	SERAC1	FKTN	C9orf72	RNASEH2C	SPG11	SNORD118	TMEM240	PRKN	FMR1	STX1B	PLP1	ATL1	PSEN1	MAPT	ATXN8OS	RRM2B	SCN9A	ZNF592	PLA2G6	TRAK1	TERF2IP	L2HGDH	KLC2	EIF2AK1	MECP2	ATP13A2	DNAJC12	ATP7B	PCBD1	WARS2	GABRD	LRRK2	SERPINI1	XPR1	POLG	PDGFB	SYNJ1	COQ2	RNASEH2B	MITF	KBTBD13	FLRT1	MLXIPL	GRN	GAMT	SLC30A10	EARS2	SPTLC1	TOMM40	FARS2	ATP6AP2	FA2H	CLTC	DCTN1	LYST	FKBP6	UCHL1	XPC	NAGA	BAP1	PRNP	HLA-DQB1	FBXO7	MYPN	PET117	IMPDH2	CLIP2	ASNS	SCN1B	VPS35	SLC25A4	GBE1	OPA3	SLC16A2	ADH1C	DNAJC6	NOS3	GLRB	PSAP	COASY	TSEN54	CDKN2A	DDB2	PANK2	DNAJC13	ABCA7	HTRA2	ATP1A3	GABRG2	CLPB	ERCC2	NR4A2	AP5Z1	TSEN2	MYORG	HTRA1	AOPEP	HEXB	TBC1D24	STUB1	TSPYL1	GIGYF2	APOE	ATXN10	LSM11	PTS	WDR45	ATXN1	BAZ1B	ELN	SLC6A3	SLC18A2	JAM2	NOTCH3	SORL1	PDE10A	MICU1	CLN3	CTSF	EIF4H	ALS2	GBA1	KIF5A	CLN6	CAT	C19orf12	NFU1	PDGFRB	DNAJC5	TREM2	PPP2R2B	DPYS	ATXN3	PARK7	PRDX1	HCN1	SIGMAR1	ATXN2	VPS13C	CHCHD10	WDR73	TH	FTL	GABRA1	ETHE1	ERCC5	HPRT1	CHMP2B	PODXL	NDUFS7	AFG3L2	FUS	MMACHC	ATP5MK	CP	PRDX3	TNIK	PRKAR1B	RNU7-1	MT-TT	METTL27	TERT	APP	KCNC3	TWNK	HFE	TRPM7	UBTF	NEB	SPR	GTF2IRD1	MINPP1	PRKRA	GLUD2	GM2A	UQCRC1	VPS13A	RARS1	PINK1	UQCRQ	PIDD1	SNCAIP	SOD1	ERCC3	ACD	SCN2A	PDE8B	BCL7B	CDKN2B	SPG21	NCF1	SLC2A1	PCDH19	SLC6A9	TACO1	ACTA1	SLC39A14	PURA	GLB1	TREX1	DDC	RFC2	ADGRV1	TBL2	ARHGEF9	TTC19	GTF2I	GLRA1	ALG13	SQSTM1	PLAA	ATN1	ZMYM2	NDUFA1	MPO	RBM10	STX1A	KLHL41	DNAJC30	PSEN2	TANGO2	EIF2AK2	RNASEH2A	ZFYVE26	CACNA1I	TPM2	TARDBP	XPA	MGMT	TMEM106B	BOLA3	SYT1	SLC6A5	GCH1	BUD23	DHDDS	CTC1	TAF1	TNR	KCNN2	MC1R	LIPT1	ATXN7	ERCC4	CAMK2B	JPH3	CYP27A1	TBK1	CSF1R	TPM3	GTF2IRD2	LIMK1	PLAU	CDK4	IFIH1	SLC2A3	DCAF17	SAMHD1	ADAR	TMEM270	TSPOAP1	GPHN	POLG2	TK2	POT1	ACAT1	RAB39B	CHCHD2
HP_CHOREA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOREA	TSEN2	NDUFA9	FXN	TREM2	KCNMA1	TYROBP	SLC20A2	ARSA	ADCY5	FBXL4	ACP5	ADA2	ATP5MK	GCDH	TBP	GJC2	CP	PDHA1	HTT	UGDH	CARS2	GRIA2	SLC2A1	OPA3	MT-ND1	FOXG1	SPG11	FBXO28	GNAO1	RHOBTB2	MT-ND5	PRRT2	HPRT1	DPYSL5	PITX3	CACNA1B	PNPT1	ATN1	NDUFS2	UBTF	PSMC1	HCFC1	ATP1A3	TUBB4A	NDUFB8	AP2M1	PDE10A	SLC25A22	MECP2	CACNA2D2	SLC6A8	MICOS13	ADAR	NDUFAF5	SPOP	TRAPPC11	GM2A	SCN2A	SUOX	NUP62	FTL	WARS2	VPS13A	DLAT	GABRA2	DCAF17	XPR1	PDGFB	FRRS1L	GRIN2B	GUF1	CHMP1A	VPS4A	SETX	TRIM8	GON7	GAMT	GTPBP2	PIGN	MECR	NGLY1	AARS1	SPTLC1	POU3F3	NDUFA13	VAMP2	XK	TSEN54	ATXN1	PIGQ	PNKD	GRIN1	GNAS	FUS	ARX	ATG7	DMXL2	DDC	MT-ND6	NADK2	MT-ATP6	TMEM106B	CHKA	KCNA1	C9orf72	MT-ND4	LRPPRC	MRM2	ATP7A	SLC30A9	SCO2	QDPR	GRIA4	MMUT	NDUFA1	MRE11	POLG	CTDP1	PLP1	SIK1	TIMM50	PDE2A	SLC1A3	SH2B1	MT-ND2	SEPSECS	SCN1B	CIC	CERS1	GLYCTK	EIF2AK2	TLR7	SLC16A2	IREB2	DHX30	ST3GAL5	PLA2G6	SPTBN4	ERCC2	GPR88	COX20	HSD17B10	GRM7	ACAT2	TNFAIP3	DYSF	PIK3R5	PANK2	PSAP	TSEN15	ELP2	CLPB	SYT1	SUCLG1	SLC6A3	MYORG	IRF2BPL	CLCN4	STUB1	AP1S2	ATP1A2	SURF1	CDKL5	NDUFAF3	TSEN34	TOE1	MT-TV	PTS	TAF1	MT-TK	SCN8A	TNR	PRNP	ZNF142	KCNN2	ATXN7	MICU1	GRIK2	JPH3	ATM	APTX	KIF1C	STXBP1	XPA	HSPD1	CASK	CACNA1A	SLC19A3	ALS2	MT-TW	NKX2-1	GCH1	SCN1A	SLC2A3	ERCC6	MT-TL1	MT-ND3	PDGFRB	MRPS34	PIGP	NEUROD2	KIF5A	ABHD16A	PUM1	SIGMAR1	MED23	ATXN2	SPR	SHQ1	SLC25A42	NAXD	PNKP
HP_PROGRESSIVE_CEREBELLAR_ATAXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_CEREBELLAR_ATAXIA	VPS41	NDUFV2	NDUFS2	NDUFA9	EEF2	RFC1	FUS	GBA2	NDUFS1	SACS	ELOVL4	KCND3	LIPT1	SLC44A1	CACNA1A	PRKCG	VPS13D	COQ8A	NDUFS7	TMEM240	AUH	PEX6	TACO1	TTBK2	TARDBP	PPP2R2B	PEX10	NDUFV1	ATXN3	SQSTM1	MME	SLC25A15	ANO10	ATN1	NDUFA13	SDHA	PNPT1	CLCN4	SLC19A3	MARS2	PDHA1	GLS	COX15	ATXN10	PDYN	TPP1	DKK1	MTPAP	NDUFA2	NDUFS8	ATXN1	KCNC3	MT-TE	VCP	COQ2	NDUFA12	MTFMT	DARS2	PET100	NDUFAF2	ATXN7	NDUFAF6	ATM	ATP13A2	TBK1	MVK	KCTD7	WFS1	FOXRED1	ATP6V0A2	SCYL1	PRNP	ATXN2	TGM6	C9orf72	TTPA	SPTBN2	NDUFA10	ECHS1	SURF1	NDUFS4	CHCHD10	MSTO1	NDUFAF5	PRDM8	NDUFS3	GJB1	HTT	ATXN8OS	NDUFA4
HP_INCREASED_NEURONAL_AUTOFLUORESCENT_LIPOPIGMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_NEURONAL_AUTOFLUORESCENT_LIPOPIGMENT	TPP1	CLN6	DNAJC5	PPT1	CTSD	CLN8	CLN3	CLN5
HP_DYSDIADOCHOKINESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSDIADOCHOKINESIS	SLC9A1	PDE8B	SLC18A2	CCDC88C	SLC20A2	VLDLR	GRM1	RFC1	SLC30A10	KCNJ10	FA2H	ATM	ELOVL4	GCH1	DAB1	TTPA	PLA2G6	SLC25A15	SQSTM1	PDGFB	ITPR1	ATXN1	SAMD9L	SPTBN2	POLR3B	CAV1	XRCC4	ATXN2	NFASC	TUBB4A	FMR1	MSTO1	PPP2R2B	MRE11	AFG3L2	CARS1	PDGFRB	ABCB7	ATN1	GRID2	TTC19	ATXN10	WDR81	LMNB1	POU3F4	ATXN7	CLN5	SPG7	GJB1	PRDM13	SLC5A6	XRCC1
HP_MIGRAINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MIGRAINE	PMS1	RASA1	ZFTA	MT-ND4	SH2B1	MT-ND5	SLC25A4	ADA2	GP1BB	CACNA1A	GATA2	TREX1	OPA1	MT-CYB	MT-ND6	COL3A1	IL10	SMARCB1	ATP1A2	GP1BA	DEPDC5	TNF	HLA-B	TLR4	IL12B	FGFR2	MT-CO1	MLX	MVK	MT-TC	C4A	IL12A	MT-TL1	STAT4	RRM2B	ACVRL1	POLG	IL23R	MYORG	MT-CO3	APP	MSH2	MT-TH	AIP	SLC2A1	MEFV	PGK1	EDNRA	FAN1	GDF2	MT-TF	ADAMTSL1	FRMD5	MSH6	SPOP	TWNK	GABRG2	SMAD4	SRPX2	EPCAM	RPS20	GP9	KRAS	NOTCH3	PEX11B	COL5A1	FGFR3	COL4A1	PDGFB	CLTRN	STIM1	ALPK1	ERAP1	MT-TQ	HTR1A	AMACR	SMAD3	GRIN2A	PRRT2	TGFBR2	SLC1A3	KCNK18	ESR1	PMS2	NDP	PDGFRB	MLH1	SCN1A	CCR1	MT-TV	LGI1	TWIST1	MT-CO2	SQOR	DNM1L	IFNGR1	BMPR1A	SEMA4A	MT-ND1	RELA	MLH3	NF1	KLRC4	MT-TK	PIK3CA	NLRP3	COPB1	KCNA1	MYD88	ENG	MT-TS2	RNASEH1	POLG2	MT-TW	TNFRSF1A	UBAC2	CSNK1D	JAG1	GPR101	EPHB4	RELN	NOP56	ACSF3	NFIX	IL12A-AS1	PRORP	SMARCAL1	FAS	STARD7	SLC6A19
HP_MIGRAINE_WITH_AURA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MIGRAINE_WITH_AURA	TNF	CACNA1A	PRRT2	NOTCH3	KCNK18	ESR1	COL4A1	TREX1	EDNRA	SCN1A	ATP1A2	CSNK1D
HP_TRUNCAL_ATAXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRUNCAL_ATAXIA	POLR3A	VPS41	GBA2	CACNB4	EEF2	VLDLR	SLC30A10	CERS1	SURF1	EIF2AK2	APTX	DAB1	KCND3	COG5	SYT14	ATCAY	SLC25A15	KCTD7	NOP56	MT-TN	OPA1	VPS13D	HARS1	SLC1A3	UROC1	MAST1	MSTO1	NAT8L	VWA3B	HIBCH	ITPR1	PEX10	PPP1R15B	MECP2	COX6B1	DOHH	ANO10	SPTBN2	ATN1	PRNP	ABCD1	NKX6-2	GRID2	ADGRG1	SDHA	SLC9A6	CWF19L1	ATP8A2	PIGA	STUB1	EBF3	ATP2B3	SACS	CYP7B1	AP2M1	ATXN3	POLG	CEP120	SHMT2	WDR81	TRAPPC11	TPK1	ATXN1	ATP1A3	FGF14	ATG5	CLN5	DARS2
HP_HYPOPLASIA_OF_THE_CORPUS_CALLOSUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_CORPUS_CALLOSUM	AMPD2	MT-ND4	TSEN2	PCLO	MEF2C	KIF2A	NDUFA2	YARS1	TMCO1	FBXL4	CUL4B	SPATA5	HS2ST1	KIAA0753	ZBTB20	KCNT1	GPT2	RNASEH2C	ALDH7A1	SPG11	CYP2U1	NKX6-2	GNAO1	SMARCE1	EXTL3	KCNQ2	NARS2	DIAPH1	IFT140	PGAP1	SPATA5L1	ASXL1	VPS51	MFSD2A	FBXW11	COX7B	PDHB	MT-TL1	WDR26	TBC1D23	PUS3	ZEB2	CEP120	WAC	NALCN	SCN2A	STAMBP	UNC80	TAF1	HNRNPR	EXOC7	POMT2	FDXR	KDM5B	GRIN1	FGFR3	MED12L	RNASEH2B	HK1	TBCE	GFM2	ASPM	POMT1	LMNB1	CARS2	KMT2C	HSD17B4	SLC6A8	LARGE1	ATP13A2	VPS11	GABRA5	RUSC2	YY1	EARS2	POU3F3	VAMP2	TSEN54	RMND1	SRPX2	PIGQ	MACF1	QARS1	FA2H	LONP1	C2CD3	DMXL2	ASXL3	KATNB1	NMNAT1	TUBGCP2	KIF7	HNRNPK	TMEM106B	MT-ND6	UBA5	CDC42	GRIN2A	TMTC3	ATN1	GPSM2	DDHD2	TP73	ATP6V1A	EIF2S3	WT1	FRMPD4	ALG2	GRIA4	MT-TS2	CLP1	MINPP1	ASNS	MOCS1	FIG4	PRKDC	TUBB	KANSL1	MAP1B	TUBB2B	TRRAP	MID1	SIK1	MT-TQ	DAG1	COPB2	ZNF148	VPS50	CRPPA	REPS1	SVBP	PCGF2	RNF13	MT-ND5	SEPSECS	RERE	COG2	PIGB	GLYCTK	ERMARD	FANCB	RTTN	AP4B1	IGF1R	GRM7	EPRS1	WDR45B	PAFAH1B1	CTNNB1	POGZ	ALG12	TCF4	UBE3B	HIC1	KIDINS220	AP5Z1	EXOC2	GOT2	TBC1D20	RAC1	CDK10	IBA57	CSPP1	COG4	GMPPB	RB1	ERLIN2	CDKL5	MTRFR	NRROS	TSEN34	PAH	TOE1	ADARB1	GJC2	LSM11	CDK13	CTU2	APC2	MAPK8IP3	TUBB2A	TRMT10A	COG7	POLR3GL	TUBB3	DARS2	ANKRD11	ATL1	KIFBP	SLC35A2	ZMIZ1	YIF1B	MOGS	PIGG	DCHS1	CASK	SON	POLR3A	NDE1	STAG2	OCA2	TUBA1A	TTI2	KIF14	ALX4	SPTAN1	ARSI	HUWE1	FKTN	ZSWIM6	TRAPPC14	DYRK1A	MT-TF	EXOSC1	ZNF462	PSAP	CARS1	EXOSC8	PIGP	TMX2	AP4E1	NFIA	RAB3GAP1	NONO	PUF60	CNTNAP1	TRAPPC9	ZNHIT3	FLCN	MED25	EHMT1	ALG8	SLC1A2	FDFT1	NFIX	VARS1	RSPRY1	ARNT2	CNOT3	POLG2	PHGDH	ADAT3	KCNK4	ACTL6B	SACS	LSS	NF1	HIVEP2	PLPBP	KCTD7	RAB18	NANS	FOXG1	FANCD2	IFT52	RNU7-1	RHOBTB2	FLNA	SSR4	COASY	PAX6	SMG9	VARS2	ARID1B	ACO2	UBTF	MT-TH	ARFGEF2	RORA	EFNB1	WDR62	SLC25A22	SHMT2	WDR81	SHOC2	MBTPS2	AHDC1	KDM1A	PTPN23	PDE6D	CLCN4	TREM2	DDX3X	SCN3A	CNP	RARS1	GRIA3	BICD2	DPAGT1	CHMP1A	FAT4	GBA2	GLRX5	PSAT1	TECPR2	GLUL	LAMB1	MAPRE2	TRIM8	PPP1R21	SPG21	MAPKAPK5	SLC25A10	CEP290	GTPBP2	AIFM1	DHCR7	POLR3B	PPP1R15B	BRF1	NARS1	SLC6A9	TBCD	SMC1A	PRPS1	KCNT2	ARX	ARHGAP31	TRAPPC6B	KIF5C	GFM1	VWA3B	AHCY	NADK2	GABRB1	PYCR2	SLC1A4	BRAT1	ZFYVE26	DDX6	NEUROD2	HACE1	PPFIBP1	POLR1C	WDR73	DOCK7	FKRP	ALG3	PIK3R2	WWOX	ATP6AP2	CCDC88A	RNU4ATAC	RALGAPA1	PLAA	UGP2	UBE3A	TREX1	PIGN	FGFR1	MOCS2	TARS2	MAF	GBA1	DARS1	RAB3GAP2	PNKP	KCNA1	TAF2	SYNJ1	SCN1B	SETBP1	EIF2AK2	PCNT	NOVA2	HTRA2	OSGEP	DYNC1H1	RNASEH2A	IER3IP1	VPS53	SNIP1	SOX3	YWHAE	KAT8	PRMT7	ACER3	PPP2CA	CACNA1I	MT-CO1	MRPS22	TSEN15	ALDH6A1	PPP2R1A	RAC3	PRUNE1	ZFR	AP4M1	TOGARAM1	AP3B2	SOX2	AKT3	PDHA1	COG6	NHLRC2	PITX1	GFER	USP7	CCDC174	SLC25A24	NUP188	SLC5A6	RELN	PARS2	OGDHL	SH3PXD2B	LNPK	SIX6	NR2F1	STXBP1	RAI1	MT-CO2	BCOR	TGFB1	POLR2A	CTNNA2	OTUD6B	PIGA	DYNC1I2	HPDL	USP9X	IFIH1	CRIPT	TBCK	SAMHD1	ADAR	EXOC8	NEDD4L	PIGU	PDHX	WLS	EMC1	AIMP2	SIN3A	DCX	OTUD5	NT5C2	GAD1	NEXMIF	AP4S1	TYROBP	EBP	MT-CO3	ADNP	MT-TW	BUB1B	MT-ND1
HP_MIGRAINE_WITHOUT_AURA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MIGRAINE_WITHOUT_AURA	TREX1	TNF	EDNRA	KCNK18	CSNK1D	ESR1
HP_ENCEPHALOCELE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENCEPHALOCELE	CEP290	FGF8	CSPP1	EOGT	ESCO2	PCYT1A	KATNIP	DLL1	HSPG2	PAK2	RPGRIP1	AIPL1	FKRP	SPATA7	TXNDC15	KCNJ13	TMEM216	B9D1	FKTN	B9D2	COL18A1	CC2D2A	POLR1C	TMEM231	TCTN2	B4GAT1	POLR1D	FRAS1	TCTN3	TCOF1	TMEM107	TOGARAM1	AHI1	INPP5E	DLL4	POMT2	PIBF1	IQCB1	ARMC9	RPE65	TMEM67	CBY1	ZNF423	MKS1	RBPJ	ARHGAP31	ALX3	ALX1	CEP120	SIX3	TULP1	DOCK6	SF3B2	TMEM237	POLR1B	TMEM138	SMO	ARL13B	FLNB	STIL	MSX2	CEP104	RPGRIP1L	CDON	TCTN1	TGIF1	FREM2	ZSWIM6	RDH12	NPHP1	CRB1	FLNA	LAMB1	GDF6	ARL3	LRAT	CYP26B1	ALX4	POMK	NOTCH1	FOXH1	GRIP1	GUCY2D	FGFR1	FGFR3	PTCH1	IFT140	HYLS1	TMEM218	TDGF1	NODAL	NMNAT1	GMPPB	C2CD3	KIAA0586	DISP1	RD3	POMGNT1	CPLANE1	CRX	POMT1	CEP41	TMTC3	IMPDH1	TUBB4B	SUFU	GLI2	LARGE1	ZIC2	USP45	HOXD13	VSX1	GAS1	SHH	CRPPA	LCA5
HP_OCCIPITAL_ENCEPHALOCELE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCCIPITAL_ENCEPHALOCELE	CEP290	COL18A1	CSPP1	LAMB1	POMT1	TMEM67	MSX2	CYP26B1	POMK	TMTC3	TMEM107	TXNDC15	RPGRIP1L	B9D2	PAK2	TMEM218	FKRP	TCTN3	SF3B2	TCTN2	POMT2	B9D1	LARGE1	TMEM231	FKTN	B4GAT1	MKS1	SMO	ARL13B	GMPPB	HOXD13	C2CD3	CC2D2A	ALX4	KIAA0586	INPP5E	POMGNT1
HP_ABNORMALITY_OF_THE_UPPER_RESPIRATORY_TRACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_UPPER_RESPIRATORY_TRACT	MDM4	MGP	WIPF1	ARSB	KAT6B	SEMA3E	CTSK	HAAO	ARSL	LRP12	LBR	IDS	SERPINA1	EPHB4	LTBP4	ZNF699	HYLS1	FLNA	DOCK8	TCF3	TBK1	RSPH3	ATXN2	FUS	IDH1	SMARCB1	DYNC2I1	TERT	FRAS1	EXTL3	STK36	GNPTAB	DRC1	PRPH	FCHO1	WDR35	CFAP300	CR2	C4B	PIK3R1	HPS6	GAS8	DHCR7	SFRP4	NAGLU	PLG	BTK	TCTN3	MSH2	MSH6	GLI3	GP1BB	LONP1	SLC26A2	SMARCA4	CCDC65	CD4	ATP6V1E1	RAC2	MED12	RREB1	PARN	TCIRG1	NFKB1	RFXANK	DNMT3B	ODAD3	UNC119	CEACAM6	CYBB	HNRNPR	PHIP	ARID1B	HSPG2	FREM2	KCNJ2	FCGR2A	DNAH1	DNAH5	SH3KBP1	PRPS1	MAGT1	CREBBP	NRCAM	POLR3A	IGHM	SPAG1	DYNC2H1	SATB2	GRIN2A	H3-3B	SMCHD1	LRBA	ERBB4	GJA1	PRTN3	FANCB	FGFR3	TBX3	CYBC1	DNAI1	NFKB2	RAG1	GALC	PON2	CFAP221	LEPR	GCLC	FGF10	RSPH9	TBX1	MKS1	HLA-DPB1	CHCHD10	NLRP12	C2CD3	XIAP	ZMYND10	FOXN1	RFXAP	CASR	ASXL3	RUNX2	CTC1	WAS	KAT6A	KDM5C	RTL1	ARID1A	ANKH	MCIDAS	CD19	HFE	DYM	WRN	GAS2L2	EDNRA	FOXP1	ICOS	NPM1	MDFIC	ACP5	SLC11A1	DNAAF5	PRRX1	SGSH	SCN4A	LTBP3	PON3	RSPH4A	FCGR3A	KANSL1	USB1	TAF15	LEP	EFL1	SPI1	FGFR2	NEK10	MIF	SMARCD1	MID1	CFAP298	MT-CYB	MAN2B1	IL6R	IGKC	SOX9	CFAP52	AICDA	SPTBN1	BLNK	STXBP2	SOX4	IL21R	CLPB	ADA	RFX5	PFN1	CHD7	CARMIL2	OFD1	IFIH1	ANO3	NBN	WRAP53	FIG4	CFI	FUCA1	INTU	KCNN4	GMNN	SRP54	TAPBP	JAK3	ODAD4	KRT5	POLE	ALG12	DNAAF6	UBE3B	SERPING1	TARDBP	CFTR	COG4	TBC1D24	ALX3	SCARF2	TSPYL1	IL6ST	SLC26A9	WNT3	DNAAF1	PSAP	CENPE	SCNN1B	PTPN22	EDN1	ADARB1	KIF22	FLNB	SQSTM1	MGAT2	VPS13B	CDKN2A	SLC6A14	PON1	COMT	POR	DNAI2	AFF4	ZNF341	IGSF3	KRAS	XPNPEP2	MLH1	EP300	SEC24C	TTC12	NOTCH2	CCNF	ATM	DCTN1	SCNN1G	RPGR	PGM3	DCLRE1C	SOD1	MAP3K7	SALL4	CAT	SH2D1A	DNAH9	ZIC3	SMARCE1	SOX11	DAO	CCDC103	CCNO	GUSB	TGFB1	BRF1	UQCRH	HLA-DPA1	FBXW7	ARHGEF1	HLA-B	IRF2BP2	PRKAR1A	SMAD2	CILK1	P4HA2	CXCR4	CEACAM3	STX1A	MPDU1	AMER1	PRKCD	KRT14	LMNA	RAF1	CCDC39	EPHA4	RSPRY1	CIITA	NCF4	TERC	PNP	PPM1D	NEK1	MATR3	DNAJB13	BLM	RPL10	TNFRSF13C	NF1	F12	STAT1	COL5A2	MYMX	IRF8	DNAAF4	UNC13A	PIK3CD	MEG3	PPARGC1A	SLC9A3	HYOU1	FOXE1	RSPO1	CD79A	GFI1	CLCA4	NCF1	KATNIP	TONSL	NHP2	STK11	TAP2	CFAP45	PABPN1	RAG2	HLA-DRB1	TNFRSF13B	G6PC3	GNS	NOP10	CYBA	TREM2	MBTPS2	AHDC1	IL17RA	PSMB9	SMARCA2	IFT80	TINF2	GABRG2	IL2RG	FOXJ1	RAI1	NME8	GLE1	NME5	SIX2	RTEL1	ODAD2	ZAP70	ODAD1	CTLA4	HS3ST6	MEIS2	MYMK	COL12A1	MYSM1	FGFR1	PSMB8	DNAH11	TCOF1	CFAP410	NLRP1	HYDIN	SPEF2	RSPH1	SMAD4	DLK1	DCTN4	COL11A1	TMCO1	TRIM37	IL10RB	DNAAF2	KIF7	ANXA11	DYNC2I2	STX3	TP53	AGA	GLT8D1	RALGAPA1	SIAH1	SMARCC2	NEFH	CD79B	HGSNAT	MST1R	ASAH1	CHMP2B	NIN	ELANE	PTH1R	ALMS1	SETBP1	ATRX	DNAL1	PCNT	LRRC56	NOTCH2NLC	VAPB	LAMB3	SNIP1	DTYMK	PRMT7	ANG	HIRA	CAPN15	SLC29A3	EIF4A3	GLB1	CCDC40	SHH	CACNA1C	DNAAF11	SBDS	EGFR	H3-3A	IVNS1ABP	DKC1	VCP	ARVCF	PUF60	DNAAF3	GIPC1	ALX1	NCF2	UBQLN2	ZBTB7A	HDAC4	SYT1	MDM2	TAFAZZIN	LRP4	UNG	NFIX	SRPX2	PDE4D	SF3B4	LRRC8A	TYMS	TP63	HMOX1	IKBKB	PKDCC	ARID2	GSTM3	OPTN	DYNC2LI1	TAP1	GRIP1	LAMC2	RNF168	CHEK2	SCNN1A	STAT3	FERMT1	SASH3	DNAJC21	PSMB4	KCNMA1	USP9X	DDRGK1	DPF2	ADA2	BTD	MS4A1	IGHG2	CD81	TOM1	TNFSF12	LAMA3	JMJD1C	TAF1	PDE11A	GALNS	TNFRSF1A	SLC37A4	IGLL1	ORC6	APC	C9orf72	HOXD13	PLP1	HNRNPA1	ADNP	PORCN	FMR1	COL5A1	UFD1	RSPO2	IL7R
HP_ABNORMAL_LUNG_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LUNG_MORPHOLOGY	MGP	ARSB	VPS37D	BAP1	CTCF	RARB	PLCH1	FOXE3	LBR	SFTPB	ZNF699	TERT	KCNJ6	SLC41A1	NUP107	FAT4	SMARCB1	PTPN11	DNASE1	LMOD3	FCHO1	AP3D1	SIX3	GAS8	RASGRP1	GP1BB	MAT2A	ASAH1	IL1RN	SGCG	RAC2	NOP10	ZIC3	TAPT1	DLL1	RFXANK	UNC119	ARID1B	FGF20	FCGR3B	GUF1	COL6A2	DNAH1	PRPS1	MAGT1	REEP1	LMNB1	LRBA	BMPR2	NOTCH1	MYH7	GBA1	PRTN3	CFAP410	NIPA1	PIGN	WNT4	FGFR3	NFKB2	PRG4	NEK8	LEPR	HPS1	PGM3	MYL2	GATA6	PTH1R	FKBP6	FOXN1	FOXP1	IFT43	KDM5C	IGBP1	PAX2	MCIDAS	DYM	GAS2L2	CHD7	TP73	FGF8	ACP5	ATP6V1A	SLC11A1	CTNNBL1	WAC	NEK9	MITF	LTBP3	GLI2	HLA-DRB1	RSPH4A	IL12A-AS1	SNAI2	LIPN	CFAP298	ABCA3	MYPN	TOM1	PPP1CB	IGKC	ITPR1	NR1H4	PCGF2	FGFR1	HSPG2	TNFSF11	NGLY1	CSF2RA	NCF1	CLPB	RFX5	ZIC2	NBN	MEIS2	CHAMP1	FUCA1	KMT2D	EIF2AK4	TAPBP	MUC5B	CRELD1	SAMD9	FARSB	CBL	CFTR	TNNT2	SMAD4	SLC25A1	ATP11A	ABCA12	RSPO2	KIAA0586	TSC2	RAPSN	FCN3	DNAAF1	SP110	SELENON	TBX1	CASP8	ELN	CDKN2A	SLC7A7	TNFRSF11A	SERPINF2	BMP2	CCDC22	DVL3	DOK7	BTNL2	LZTR1	NOTCH2	EP300	MOGS	PRKCD	FLI1	ETFDH	HLA-B	EIF4H	CFB	IFT140	MCTP2	CAV1	SCN10A	NXN	ITGA7	CARD10	DLL3	SOX11	CD2AP	TTC12	ARHGEF1	TRIP11	DYNC2I1	NUMA1	NKX2-5	PEPD	NKX2-1	PARN	DISP1	FADD	CCDC39	CITED2	ASPRV1	RPS15A	P4HTM	PRKACB	FCGR2B	CD28	GRIP1	PLXND1	HMOX1	STIL	GATA2	ZNRF3	IL10	SCNN1G	CCDC103	MKRN3	TGFB1	PRSS1	PSMC3IP	MEG3	MRPS22	GPKOW	RRAS2	METTL27	SATB1	INPPL1	DCLRE1C	GLA	GREB1L	CLEC7A	MARS1	TONSL	STK11	SLC22A18	H4C3	TNFRSF13B	MYOD1	ARHGDIA	TNFRSF1A	BUB1B	CPLX1	PEX1	FOXC2	SLC5A7	NME8	TPP2	RTEL1	PMM2	PRKAG2	CFAP53	PRKAR1A	CRB2	NUP37	ZFPM2	SOX18	XIAP	GPR35	IFT81	KIF20A	SPINK1	MYH3	MYSM1	NUP88	LAT	EFEMP2	DNAH11	ICOS	ANKFY1	IFNGR1	HYDIN	NCF2	NKX2-6	EDNRB	RAC1	SPP1	PTPN22	COG6	CIITA	KAT6B	TMCO1	TRPS1	KRAS	BMP15	NECTIN1	MUSK	FBN1	DNAAF2	MED12	IFIH1	SMG8	MLXIPL	RARA	RNU4ATAC	TAOK1	SAMD9L	IL17F	HERC2	UGP2	DNAAF5	PHGDH	CR2	MAPK1	CEP55	CEP120	ENG	REST	SLC26A2	FSHR	ERCC3	GATA4	TTC7A	TBX6	CD55	SNRPN	CTRC	LAMB3	NABP1	MKKS	HLA-DQB1	COLQ	SLC18A3	MYO5A	KPTN	TIMMDC1	HIRA	WAS	TSC1	C4A	SLC1A4	SERPINA1	EGFR	SKIC2	IL23R	RAG2	ARVCF	IFNG	SCNN1A	SMN1	TAFAZZIN	COL4A6	GLI1	CARS1	NFIX	BIRC3	NEK1	SMO	RSPH1	ITGA8	SRP54	TYMS	DOCK8	MAP2K1	DNAH9	GNPTAB	MYL9	RNF113A	TDGF1	TAP1	DNAAF11	CD27	LAMB2	LIFR	TPM3	UBE2A	PTEN	RNF168	OCA2	STAT3	SASH3	DEF6	NAA10	DPF2	ADA2	MESP2	ARPC1B	GPC3	PRKN	PPP2R1B	DICER1	USP9X	DNAAF3	EHHADH	GALNS	CXCR4	CD3G	IGLL1	PTCH1	CHST14	ERBB2	ELP1	LRIF1	USP18	TBL1XR1	GFRA1	CTBP1	ODAD1	COL5A1	PSAP	RPA1	GUSB	MDM4	IRF2BP2	WIPF1	IL12RB1	ARSL	HES7	NHP2	IDS	EPHB4	ADGRG6	IPO8	IDH1	EXTL3	PLOD1	TERC	MTM1	DRC1	IL7R	CFAP300	C4B	CACNA1B	PIK3R1	MAGEL2	SPECC1L	COQ7	STAT5B	RAG1	BTK	FAM111B	CDT1	CCDC65	SPIDR	ALOX12B	RREB1	MMP21	TTC21B	WT1	TCIRG1	CD247	EDARADD	RIT1	WARS2	FCGR2A	SH3KBP1	ALG12	DYNC2I2	DDR2	DYNC2H1	NDUFC2	FOXH1	CHRNG	SOCS1	MAGI2	CYBC1	TRAF3IP2	MEFV	NUP205	TGFB2	KNSTRN	IKZF1	TPM2	TBCE	IRF1	POLR3A	FANCF	ETFB	RAF1	WRN	NPM1	FARSA	LACC1	PIGO	TRPC6	SLC2A10	SCARB2	FCGR3A	PRKDC	CD3D	BCOR	NEU1	LEP	ZNHIT3	NEK10	MID1	ROR2	RANBP2	MT-CYB	IL6R	TNNI3	COL6A3	SOX9	AICDA	UBB	COL13A1	STXBP2	FANCB	IL21R	PWRN1	SPTBN4	EXT2	SKIC3	CDC45	POT1	CCR6	WRAP53	PWAR1	CALCRL	CSF2RB	GMNN	POLE	CDCA7	EPG5	ATP6V0A1	CSPP1	DGCR8	COQ8B	CHAT	COG4	ARHGAP31	NOD2	SLC35C1	NIPA2	AAGAB	TCF4	CLCN7	STX3	ITK	TK2	MECP2	FLNB	BLM	DNAI2	AFF4	AKT1	POLA1	FUZ	IRAK1	SMAD3	DNAI1	SNX10	PKP1	PIGT	CRLF1	B3GALT6	NDUFB10	NFASC	MFAP5	COL2A1	RNF125	BRAF	LFNG	OCRL	PTCD3	PLVAP	GDF1	SMARCA2	LYST	NDUFA6	SMAD2	P4HA2	STX1A	LMNA	CCNQ	PLA2G6	LIG1	PNP	IL2RG	DNAH5	PRSS2	TFRC	NFKB1	CTLA4	TNFRSF13C	COL5A2	RPGR	PDGFRB	RELB	PANK2	RFXAP	ALDH18A1	CCBE1	DIP2B	FBLN5	SLC9A3	TRIP4	ODAD4	TBC1D8B	KLHL40	TNFRSF1B	IL21	WNT3	PI4KA	GFI1	MYRF	HPGD	AGT	TAP2	TBX5	SDCCAG8	AARS2	MBTPS2	HFE	CEP57	TBX20	SLC34A1	TINF2	PKD1L1	CD3E	KITLG	CDC42	ALPL	TRAIP	IFT172	SHH	TLL1	GRIA1	GAPVD1	TREX1	LETM1	PLCG2	SCNN1B	DHCR7	PSMB8	MPLKIP	SYK	TBCD	NEB	PIK3CD	GLB1	FLCN	DCTN4	ABL1	NADK2	SCN11A	NPHP3	POU6F2	GATA1	TRIM37	STAT1	RSPH9	GTF2I	SLC34A2	MCM4	CD79B	MYO9A	AGTR1	ELANE	ZMYND10	PIK3CG	B2M	PERP	ALMS1	NCF4	BCR	NOTCH2NLC	FAS	IER3IP1	MYLK	BNC1	ELF4	CDON	CCDC40	AK2	WDR19	COL4A3	SFTPA2	SUCLG1	ACVRL1	IVNS1ABP	TARS1	GIPC1	PDHA1	LIG4	ALG14	SPRED2	ZBTB7A	MDM2	UNG	TYR	SHROOM4	CTNNB1	LRRC8A	OSTM1	ARID2	TGFB3	SON	CYP27A1	LAMC2	CHEK2	C3	NAB2	B3GLCT	DNAJC21	GTF2IRD2	LIMK1	ERCC6	RTL1	MIF	MS4A1	IGHG2	TMEM270	SMPD1	KANSL1	SEMA4D	CHRNA1	BCL10	TNFSF12	SLC35A1	TAF1	SFTPC	NUP160	DYNC2LI1	UBAC2	NRAS	ZMPSTE24	VHL	EWSR1	NODAL	EVC	PRKACA	INVS	CD79A	FOXP3	ZFTA	TFG	YARS1	GPC4	TGIF1	LTBP4	HYLS1	STAT6	ETFA	PURA	RSPH3	ADAMTS3	FRAS1	RMRP	SETD2	EHMT1	LAMTOR2	NPC2	NSD2	VPS51	HPS6	EPM2A	NAGLU	STN1	FASLG	TCTN3	ATP6V1E1	LONP1	ZEB2	DOCK6	VPS33A	DSE	TUBA1A	RCBTB1	HK1	CREBBP	MYO1E	TRIP13	PIEZO1	TGFBR1	CFAP221	MKS1	IL6ST	PEX13	NPHS1	ACTC1	RYR1	SULT2B1	CTSC	CD8A	HEY2	ARID1A	REL	EDNRA	ACTN4	KIF1A	SGSH	PET117	COL4A5	BRCA2	USB1	DHCR24	CD19	SPI1	SFTPA1	NDN	SDR9C7	RB1	TGFBR2	CAVIN1	CYP2A6	MAN2B1	JAK3	SPRED1	DPM2	NUP214	MANBA	SNORD115-1	CARD11	SLC52A3	FOXF1	RET	ZBTB24	ADA	OFD1	COL3A1	INTU	MYO1H	NUP93	KLHL41	FCSK	FLNA	RBPJ	TBC1D24	ZAP70	FLNC	SLC26A9	TRIM28	UMPS	WDR35	IGHM	BAZ1B	ZNF341	PKHD1	CCND1	SEC24C	WDR1	IL17RA	NLRC4	TYK2	JAGN1	PAK2	SH2D1A	EFL1	DSP	KLRC4	TCF3	THSD4	CCNO	MYD88	IRF5	FBXW7	ACE	SYT2	ASCC1	MSN	SIM1	TRPV4	BUB1	STRA6	COL6A1	TMEM260	DNASE1L3	HLA-DQA1	DNAJB13	PIK3CA	ANLN	BGN	GRHL3	IRF8	MALT1	TIMM8A	PLG	HYOU1	IL6	ACTA2	STAT4	H19	THOC2	CLCA4	FAM13A	KATNIP	PEX5	NPHS2	COL11A2	TP53	G6PC3	PTPRO	MRAS	BCL11B	IRF4	IFT80	FOXJ1	DGCR6	GTF2H5	NME5	JAG1	AP3B1	ACADVL	DPAGT1	ODAD2	SDHD	ERAP1	VANGL1	BCL7B	SLC46A1	PPP1R21	FAM20C	CRKL	RPL10	INF2	DIS3L2	SMC1A	SPEF2	CC2D2A	ERF	PORCN	CHUK	IL10RB	POLR3H	ALG3	CD46	NHLRC1	DKC1	BMPER	PIGG	SMARCC2	CRTAP	DSG1	GSN	HGSNAT	DGCR2	GAA	PCNT	BLNK	SLC29A3	FLT4	GLI3	SETBP1	PLD1	SOX4	EVC2	SBDS	DLK1	CYBB	WASHC5	EMG1	CTPS1	FOCAD	PUF60	ORC1	HELLPAR	AGGF1	BUD23	SNAP25	SNAP29	PYROXD1	ALOXE3	SLC25A24	NIPAL4	MYBPC3	NDUFAF6	NOTCH3	KRT5	GAS1	TTC26	SMARCD2	ZNFX1	ALG9	RELA	NF1	CD81	CD40LG	IL2RA	LAMA3	IDUA	JMJD1C	RIPPLY2	TECPR2	COPA	SLC37A4	ORC6	GLDN	CIROP	NUP133	IL17RC	UBA2	RASA1	EOGT	AASS	IFT122	GLE1	FIP1L1	DOCK2	GATM	TLR4	TUBG1	SOX10	FBXO28	CHRM3	STK36	KIAA0319L	CFH	PIGL	LRRC56	NSMCE3	DZIP1L	ASXL1	SMARCA4	CD4	TBC1D23	CCN2	KAT6A	RRAS	MASP2	DNMT3B	ODAD3	CEACAM6	PHIP	FREM2	SPAG1	LOX	TXNDC15	GCLC	ATP6V0A2	HLA-DPB1	AGA	KIF11	HRAS	DPP9	CTC1	GTF2E2	APC2	ZCCHC8	ADAMTS2	TGM1	MDFIC	LCK	RUNX2	PRRX1	ATP6V1B2	CLIP2	HACD1	FIG4	GPC6	SMARCD1	ALB	PML	ACTA1	BUB3	SREBF1	SLC25A22	EBP	MYH11	CARMIL2	MIR140	REN	CFI	KCNN4	DNAAF6	TASP1	BCL6	NSD1	PIGA	DONSON	ATP5F1A	HELLS	WNT9B	MGAT2	SLC6A14	SPINK5	COMT	RIPK1	ATM	MAP3K8	NTRK1	CORO1A	EXT1	SMARCE1	RLIM	PRKG1	UQCRH	HLA-DPA1	RHOH	CEACAM3	SOS1	MTHFD1	VARS1	MAP3K20	ITCH	CYP4F22	ITGA3	DDX59	DNAAF4	PLEC	LTBP1	SLCO2A1	KDM6A	ECM1	DLL4	HPS4	GTF2IRD1	GNS	CYBA	TMEM94	CACNA1C	NFE2L2	CHRND	NOS1	GLUL	NFKBIA	ADAMTS19	ACVR2B	EMP2	VAMP1	STING1	LAMA2	APOL1	BACH2	RFC2	SCN9A	TBL2	GEMIN4	TRPV3	NEPRO	BLTP1	SIK1	SIAH1	ALDH1A2	NELFA	RBM10	EXOSC9	DNAJC30	BCL2	NPAP1	ESS2	SLC12A6	NIPBL	OAS1	ZBTB16	PAX6	DNAL1	H4C5	STAG2	SNORD116-1	FMO3	NR5A1	IL12A	SOS2	PLCE1	IRAK4	IL2RB	SF3B2	NHLRC2	RASA2	LGI4	IKBKB	RAB3GAP2	ZSWIM7	GSTM3	ERCC2	MST1	GORAB	MYH6	NUP85	CCR1	AGRN	POLR2A	CASP10	COL14A1	NSDHL	OTUD5	TET2	PIEZO2	PLP1	MED25	KEAP1	HOXD13	ADNP	UFD1	ARHGAP24	PAFAH1B1	DAAM2
HP_PULMONARY_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_HYPOPLASIA	PIGN	PLXND1	CHRNG	KAT6B	HSPG2	GLE1	RARB	FGF20	TRIP11	MYH11	LBR	RET	LTBP4	MKKS	MYOD1	LMNA	ETFA	WNT4	ADGRG6	CDC45	MEG3	NAA10	DYNC2I1	ACTA1	FRAS1	REN	INTU	SETBP1	TRIP4	LMOD3	KLHL40	WDR35	SLC26A2	DZIP1L	WNT3	KLHL41	SPECC1L	COQ7	DHCR7	DLK1	MYRF	TCTN3	GREB1L	CSPP1	AGT	DONSON	KIAA0586	TAPT1	LONP1	ZMPSTE24	SF3B2	AARS2	IFT80	FGFR3	NEK1	TMEM94	PEX1	PI4KA	ATP5F1A	WNT9B	SMO	ITGA8	GATA6	FLNB	SLC25A24	MUSK	FREM2	NPHP3	DPAGT1	TUBA1A	CHRND	GFRA1	LGI4	PKHD1	ZFPM2	FLNA	FANCB	VANGL1	DYNC2H1	FUZ	DOK7	IFT81	GRIP1	TXNDC15	LIFR	FAM20C	NUP88	ETFDH	BCOR	NEK8	B3GALT6	MKS1	NEB	MCTP2	WT1	PTH1R	NDUFB10	NKX2-6	RTL1	RYR1	SLC18A3	ALG9	COL2A1	CC2D2A	ZIC3	RLIM	CHRNA1	ETFB	ALG3	DYNC2I2	NSDHL	BMPER	NEK9	ACE	PRRX1	PIEZO2	MYH3	GLDN	RAPSN	ASCC1	ALDH1A2	PHGDH	CEP55	CEP120	STRA6	RBM10	AGTR1	GBA1	INVS
HP_PNEUMONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PNEUMONIA	FOXP3	TFG	ARSB	ZIC2	IL12RB1	AASS	POLA1	TREX1	PLCH1	CITED2	IFNGR1	TGIF1	LTBP4	ZNF699	DOCK8	PURA	DOCK2	KCNJ6	IDH1	SMARCB1	CYBC1	NODAL	RMRP	EXTL3	GNPTAB	PLOD1	MTM1	DRC1	FCHO1	IL7R	IFIH1	SIX3	DZIP1L	C4B	GAS8	EPM2A	RAG1	BTK	ASAH1	SMARCA4	SGCG	RAC2	KAT6A	DLL1	RAG2	TCIRG1	CD247	NFKB1	MASP2	DNMT3B	UNC119	GAS1	ARID1B	VPS33A	FCGR2A	FCGR3B	STIL	SHH	FOXH1	ALMS1	FGF8	LMNB1	LRBA	CSF2RB	CFAP410	DNAI1	NFKB2	KNSTRN	STAT3	MYL2	SCNN1A	SCNN1B	FOXN1	KIAA0586	ACTC1	TPM2	IGBP1	CSPP1	ARID1A	REL	POLR3A	CD19	FANCF	ICOS	ACP5	SLC35A1	CDON	LTBP3	GLI2	COL4A5	ATP6V1B2	HACD1	FIG4	CD3D	USB1	LEP	SMARCD1	MID1	GATA4	B3GALT6	RANBP2	CAVIN1	MAN2B1	JAK3	ACTA1	IGKC	FGFR1	GATA6	SREBF1	CARD11	UBB	CSF2RA	NCF1	IL21R	ZBTB24	CLPB	ADA	CARMIL2	NBN	CASP8	KMT2D	SRP54	ALG12	MYO1H	SAMD9	ATP6V0A1	CFTR	RAC1	PIGA	ZAP70	IL6ST	SLC35C1	SP110	SELENON	TBX1	TK2	TNFRSF11A	IGHM	BLM	AFF4	ZNF341	WDR1	PGM3	PKP1	NTRK1	CRLF1	CFB	SMC1A	EFL1	ITGA7	RNF125	SMARCE1	SOX11	TCF3	PTCD3	NDUFA6	FBXW7	PKHD1	PRKCD	MTHFD1	DISP1	PIK3CD	PLA2G6	P4HTM	PNP	IL2RG	HLA-DQA1	TBX20	ERCC6	MAP3K20	SCNN1G	TNFRSF13C	GRHL3	IRF8	PANK2	TGFB1	IRF2BP2	LTBP1	TIMM8A	FBLN5	PTCH1	KDM6A	TDGF1	DCLRE1C	GFI1	TONSL	COL11A2	TNFRSF13B	CHD7	IL17RA	SMARCA2	PMM2	CACNA1C	NME5	AP3B1	ACADVL	DNAH11	CD3E	ODAD1	SDHD	NOS1	TLL1	CREBBP	IDS	LAT	EFEMP2	SYK	ABCA3	TBCD	NKX2-5	NCF2	GLB1	HYDIN	NADK2	NHLRC1	CYBA	RNU4ATAC	CR2	SIAH1	SMARCC2	PIGN	CD79B	PEPD	ELANE	KPTN	TBC1D24	MCIDAS	CD55	NOTCH2NLC	NIPBL	BLNK	LAMB3	RYR1	HLA-DQB1	WAS	STAG2	FMO3	CCDC40	WDR19	SETBP1	ODAD2	SOX4	SBDS	EGFR	CYBB	FOCAD	GIPC1	PDHA1	LIG4	CCDC39	ZBTB7A	STK36	COL4A6	NFIX	SNAP29	SLC25A24	OSTM1	LONP1	ARID2	CD27	TPM3	MYH6	LAMC2	RNF168	C3	DNAI2	NKX2-1	DNAJC21	SMARCD2	ZNFX1	DPF2	MS4A1	IGHG2	ARPC1B	WDR35	CD81	DDR2	FUZ	TNFSF12	LAMA3	TAF1	GALNS	SFTPC	CXCR4	ORC6	MED25	IGLL1	OFD1	SFTPB	LRIF1	PAFAH1B1	GBA1	EP300
HP_RESTRICTIVE_VENTILATORY_DEFECT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESTRICTIVE_VENTILATORY_DEFECT	DNASE1L3	NLRP3	RNU4ATAC	FKRP	ARSB	ALMS1	SLC12A6	LRP12	NOTCH2NLC	CSF2RA	IDS	LRP4	MEGF10	IRF2BP2	MEG3	GLB1	TTN	PLOD1	TSC1	TSC2	MYO1H	AGRN	CHRNB1	SELENON	DLK1	CHCHD10	SYNE1	FGFR3	STAC3	MT-TL2	HLA-DRB1	TOR1A	GIPC1	SGCG	HPS4	MESP2	SCN4A	TRAPPC11	NFKB1	MT-TL1	PYROXD1	AK9	MT-TN	DNAH11	SLC34A2	CTLA4	CHRND	SFTPA1	MUSK	GNPTAB	MYH7	BTNL2	NFKB2	CSF2RB	HLA-B	PRTN3	CFAP410	CHRNA1	RNF168	CHRNE	FLNB	ICOS	TNFRSF13C	GDAP1	FRG1	B3GALT6	HES7	NAA10	HPS1	HLA-DPB1	IKZF1	RTL1	RAPSN	PIEZO2	COL2A1	MS4A1	COL13A1	CD81	DDR2	DMD	TNFSF12	HLA-DPA1	FARSA	DKC1	ACP5	GALNS	DOK7	COPA	NKX2-1	CR2	PTPN22	BICD2	CD19	PRKCD	TNFRSF13B	ENG	WDR19	RPA1
HP_RESPIRATORY_INSUFFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESPIRATORY_INSUFFICIENCY	TFG	SEMA3E	CHRND	MTMR14	PDHA1	LRP12	GPC4	SFTPB	CPT2	CHRNA1	RSPH3	ALDH7A1	KCNJ6	RNU4ATAC	ADAMTS3	NDUFB11	SLC25A20	ALG1	LMOD3	PRPH	CDT1	NPC2	NDUFAF2	SPOP	TRPV4	SLC26A2	SLC25A4	VMA21	AAAS	SH3TC2	AGK	FHL1	ASAH1	SMARCA2	TPM2	SLC25A46	COL6A1	SEPTIN9	SLC25A1	CFL2	NDUFAF8	UBA1	POLG	BDNF	TUBA1A	COL6A2	COL1A2	DNAH1	PRPS1	MUSK	KCNJ10	CDC6	POMT1	EXOSC9	CSF2RB	ERBB4	PRTN3	GLE1	FGFR3	GALC	CFAP221	ERGIC1	SPEG	MYL2	DCTN1	ZMYND10	NDUFA1	MGME1	MECP2	RYR1	TRIM2	RUNX2	CHRNE	DMD	MCIDAS	DYM	KLHL41	GAS2L2	NDUFV2	CFAP300	SLC30A9	PRDM13	LTBP3	PON3	ASNS	RSPH4A	ERBB3	CFAP298	WT1	STAC3	EXOSC3	IGHMBP2	FLNB	LAMA2	NDUFS4	NUP214	DLL3	SLC52A3	FOXF1	AGTPBP1	CSF2RA	PFN1	OFD1	IFIH1	POLR1D	SLC26A4	TCOF1	LMNA	INPP5K	CLPB	SELENON	FARSB	UBE3B	TARDBP	TBK1	MCCC2	MADD	FCSK	IBA57	FLNA	GMPPB	MPL	OPTN	SURF1	RAPSN	CISD2	MYO1H	DNAAF1	FKRP	COLQ	KIF22	PURA	SQSTM1	SLC7A7	POLR1B	COG7	PON1	JAK2	NDUFS1	ASXL1	BIN1	PAX2	TK2	DOK7	TRAF7	SLC52A2	CCNF	PIEZO2	RPGR	PEX16	SON	HLA-B	PMP22	CPOX	SPG11	NSF	IFT140	ITGA7	AGRN	CCDC103	TWNK	COQ4	HYMAI	CCNO	NDUFAF3	MYD88	HADHA	LIAS	ACE	SOX9	SYT2	GRM7	ASCC1	B3GALT6	PKHD1	NKX2-1	LYRM7	CCDC39	ACVR1	DNAJB13	NDUFS7	NEK1	HACD1	MATR3	GATA2	TMEM43	COL3A1	PEX7	MEGF10	UNC13A	POLR1C	MYMK	MEG3	EMD	ATAD1	SYNE2	AIFM1	ORC6	INPPL1	SLC18A3	UFM1	GLA	NEB	NDUFS8	HCCS	MYOD1	G6PC3	OSTM1	LIPT2	AHDC1	IRF4	IFT80	SMPD4	DAG1	PEX1	IFNG	FOXJ1	SLC5A7	NME8	BICD2	ODAD2	EXOSC8	TICAM1	PEX6	CPS1	MYH7	FGFR2	IFT81	ECHS1	PEX19	TRIP4	SLC19A3	GLS	NUP88	EFEMP2	DNAH11	WFS1	SLC6A9	COX6A2	NEK10	ATXN1	SLC27A4	HYDIN	FKBP10	SPEF2	SMAD4	AHCY	CRYAB	PEX13	TNPO3	PAX7	DNAAF2	BMPER	NDUFB9	DNAAF5	POMK	SLC25A26	GMNN	CEP120	STRA6	NDUFB3	CHMP2B	NSUN2	PLAA	PLAGL1	GAA	NAXE	NDUFS2	LAMB3	NDUFAF5	FAM20C	PEX11B	DTYMK	ACTN2	TTN	PEX12	VRK1	COQ9	MT-ND3	CHRNB1	DLK1	NDUFA10	MT-TL2	SMPD1	SF3B4	SMN1	UBQLN2	AGGF1	RRM2B	NFS1	TSC1	CRLF1	SNAP25	RSPH1	ACTA1	COL6A3	CCDC174	SLC25A24	NUP188	PEX2	MT-ND2	LONP1	DNAH9	GNPTAB	TRAPPC11	COX14	NDUFS3	DNAAF11	MICOS13	LAMB2	LIFR	TPM3	DMPK	RNF168	DNAI2	SCYL2	MT-TN	PIGA	HPDL	ACADVL	TBCK	GPC3	DPAGT1	COL1A1	MAMLD1	SEC63	ABCB4	LAMA3	ATP8B1	RIPPLY2	RNASEH1	SUCLA2	ADPRS	PEX26	C9orf72	USP18	HNRNPA1	SNRPB	ODAD1	PSAP	STIM1	NDUFA9	CHRNG	NDUFB10	HSPG2	CUL7	ARSL	HES7	KIAA0753	TET2	LRP4	FBN1	RNASEH2A	FKTN	ATXN2	FUS	ORC1	DYNC2I1	CANT1	STK36	MT-ND1	DPYD	MTM1	DRC1	WDR35	COL11A2	DZIP1L	SUCLG1	TMEM231	SHPK	DPM2	ENPP1	PBX1	GLI3	CCDC65	NDUFB8	LIG4	FLNC	MCCC1	KAT6A	GPX4	TTC21B	ODAD3	NUBPL	POMT2	PHOX2B	ABCA3	ORC4	FOXI1	DNAH5	GFRA1	KBTBD13	GFPT1	DYNC2I2	EDN3	SPAG1	DYNC2H1	PLCB3	LARGE1	TXNDC15	DST	ORAI1	PON2	CHAT	LTBP4	RSPH9	GMPPA	KNSTRN	NDUFA11	NALCN	HLA-DPB1	CHCHD10	BCHE	ACOX1	CYP27A1	HRAS	RTL1	COA8	EGR2	LRPPRC	MDFIC	MPZ	MYPN	MARS1	SLC2A10	SCO2	MTTP	VCP	ZC4H2	TAF15	MESP2	GDNF	MT-TE	FOXRED1	ZNF148	SRP54	PHYH	ERF	NPHS1	MYL1	CSGALNACT1	MYO9A	COL13A1	MYH11	DYNC2LI1	DES	TNNT1	PRUNE1	MLYCD	GAS8	MORC2	NDUFV1	CHD7	GNB2	ALAD	NR1H4	FIG4	REN	DNAAF6	TMEM126B	SBDS	TSPYL1	PEX5	LBR	TRAF3	MFN2	MT-TL1	NDUFAF1	SYNE1	BLM	RMRP	CLCF1	FUT8	TTC12	HMBS	GGPS1	POGLUT1	MYOT	DNAI1	LARS2	SOD1	XYLT1	NFASC	COL25A1	C19orf12	BSCL2	NFU1	DAO	LFNG	OCRL	PTCD3	NDUFS6	LAMP2	NDUFA6	YARS2	ABCA12	DNM2	HLA-DPA1	TSEN54	PLPBP	CNTNAP1	MYH3	NDUFAF4	UNC93B1	EPHA4	TRMU	KLHL40	LBX1	MAP3K20	WDR19	ITGA3	GLYCTK	AFF3	MYBPC1	EXOC6B	DNAAF4	CCBE1	LTBP1	FAT4	PPARGC1A	FBLN5	ODAD4	VARS2	COL11A1	COX7B	AGT	BAG3	PEX3	SCN4A	TREM2	CLCN6	AK9	SLC34A2	CTLA4	DSP	PLOD1	ABCB11	SBF2	TMEM70	GLUL	IFT172	PIP5K1C	VAMP1	CFAP410	TBCD	SARS2	PIK3CD	GARS1	DDC	MT-TT	GALK1	CNTN1	ANXA11	GLT8D1	MCM4	COL2A1	RALGAPA1	NEFH	ALDH1A2	AGTR1	PRKCSH	GTPBP3	STAT2	JUP	CTSD	COL12A1	LRRC56	NOTCH2NLC	HTRA2	VAPB	OAS1	TSFM	ANG	TLR3	DNAL1	PLEC	CCDC40	TIMMDC1	LRP5	TPI1	FLAD1	BOLA3	TOR1A	DNAAF3	GIPC1	ALG14	DNM1L	RFT1	PEX10	PRIM1	NBN	DNAJC21	SLC6A5	NHLRC2	PLEKHG5	HSD3B2	TUFM	PEX14	LAMC2	FGFR1	MYF6	KIT	TSC2	CDC45	SLC25A3	HIBCH	HADHB	NUTM2B-AS1	SFTPC	POLG2	PLOD2	PTPN22	PLP1	MRPS14	INVS
HP_DYSPNEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSPNEA	FOXP3	TFG	IRF2BP2	WIPF1	TERT	NEMF	BAP1	FOXE3	FIP1L1	LRP12	CITED2	OTX2	SFTPB	LRP4	ETFA	TBK1	PURA	IPO8	ATXN2	MT-ND1	FUS	TET2	KCNJ6	IDH1	RNU4ATAC	ORC1	NDUFB11	ACADS	TGFB2	FGFR2	MTM1	PRPH	KLHL7	CDT1	TSC2	UBA1	DNA2	RRM2B	COQ7	STAT5B	DPM2	STN1	TRAK1	MAT2A	IL1RN	SCN5A	NDUFB8	ZIC3	LONP1	FBN1	KAT6A	SLC25A1	FGFR3	PNPLA2	MYH11	VPS33A	POLG	DPM1	ABCA3	ORC4	CHRND	MUSK	CREBBP	CDC6	REEP1	LOX	BMPR2	CSF2RB	ERBB4	GBA1	JPH2	EOMES	EPHB4	TINF2	GALC	TGFBR1	PON2	CHAT	ERGIC1	FBP1	GNAS	CHCHD10	SCNN1A	GATA6	SCNN1B	IKZF1	MGME1	TUBB4A	ACTC1	MT-ND6	DPP9	RUNX2	WAS	HEY2	MT-ATP6	PYGM	VCP	ETFB	SCN4A	COA8	TP73	SLC35A1	MARS1	PRRX1	SLC2A10	SCO2	LTBP3	COL4A5	ATP6V1B2	MMUT	PON3	MPC1	JAK2	BCOR	FOXF1	TAF15	SFTPA1	EIF2AK4	MT-TE	GATA4	TGFBR2	LMNA	ENPP1	MYPN	SRP54	TNNI3	PML	SLC1A3	TRPM4	SOX9	HLCS	NUP214	ATRX	DHX16	SLC25A4	STT3B	SLC52A3	NGLY1	STAT4	CCN2	MAPT	CSF2RA	PFN1	PKP2	ISCU	IFIH1	FIG4	PIGT	CAV1	WDR45B	CLPB	MUC5B	RNF13	ADCY6	SFTPC	TARDBP	CLCNKB	EFTUD2	TNNT2	SBDS	CSPP1	ATP11A	GYG1	FLNC	STAT3	SURF1	APOB	IRF5	NDUFAF3	PSAP	MT-TV	SQSTM1	MGAT2	TK2	PON1	MRPL3	ATP1A2	CYB5R3	VCL	HBB	XPNPEP2	CNTNAP1	EP300	BTNL2	CCNF	ABCG5	IRAK1	MOGS	DCTN1	SMPD1	PRRT2	ETFDH	CHRNE	ABCG8	EDN1	NDE1	B3GALT6	SOD1	MMAB	HLA-DRB1	DISC1	MFAP5	COL25A1	COL2A1	MPV17	DSP	COL13A1	DAO	POMT1	PRKG1	SLC22A5	CASR	KCNA1	COL1A2	SYT2	NUMA1	NKX2-1	TBX4	PARN	CHRNA1	HLA-DPB1	EPHA4	SMARCAL1	TRMU	NDUFA8	SLC12A3	DNASE1L3	TBX20	MATR3	NEK1	ABCC6	ITGA3	TERC	LDLRAP1	MYOZ2	SCNN1G	TRIP11	RTEL1	MEGF10	UNC13A	PRKAR1A	SIK1	IFT52	PLEC	PPARGC1A	FLNA	SSR4	MT-ND5	AGRN	ACTA2	AIFM1	STX16	ADAMTS13	ORC6	NDUFS2	GLA	COX7B	FAM13A	ATP1A3	HCCS	EDA	NPPA	DBH	SH2B3	TREM2	SDCCAG8	MMAA	TWNK	IFNG	SLC5A7	NAGS	GLE1	PMM2	AK9	PRKAG2	ACADVL	SLC34A2	ZFPM2	ACADM	MMACHC	MYH7	TLL1	IFT81	PPP1R21	HLA-B	VAMP1	KIF20A	FGFR1	CFAP410	SERPING1	PNKD	MT-TK	TRPV6	NKX2-5	SPP1	ERF	RPS26	DNAJB6	SMAD2	MT-ND4	ANXA11	DOK7	BMPER	LYRM4	GLT8D1	RARA	NEFH	GMNN	GAA	MYO9A	ENG	ASAH1	IL6ST	GTPBP3	CHMP2B	LIFR	UBE3B	ELN	NOD2	KRT6B	MYL3	TBC1D24	ALMS1	MT-ND2	SNRPN	VAPB	LAMB3	TNNC1	NABP1	DMPK	FAM20C	MYLK	COLQ	SLC18A3	ZBTB16	TSFM	GNAI3	ANG	TTN	KRT6A	SETBP1	TSC1	LDLR	SFTPA2	TRMT5	SERPINA1	SUCLG1	CHRNB1	ACVRL1	CYB5A	CCR6	TPI1	PUF60	BOLA3	NPM1	UBQLN2	ATP13A3	DNAJC21	COL4A6	ZMPSTE24	KRT17	KRT16	MYL2	SLC25A3	SNAP25	SMAD4	RELN	ARX	MYBPC3	BANF1	TGFB3	OPTN	DYNC2LI1	KATNB1	LAMB2	PIGA	MYH6	LAMC2	LGI4	DSC2	CACNA1A	SCYL2	MT-TW	MT-TN	CDC45	USP9X	MT-TL1	RAPSN	PLCB4	BTD	KIT	ALAS2	MT-ND3	CRLF1	CFTR	DNAAF3	DSG2	LAMA3	POLG2	PGM1	COPA	EPOR	C9orf72	SCN1B	RPS28	HNRNPA1	PRKCSH	ADNP	SDHA	TBL1XR1	PCSK9	NEB	SMAD3
HP_EMPHYSEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMPHYSEMA	DNASE1L3	ELN	BTNL2	NFKB2	TAP1	SCNN1G	FBN1	LTBP4	SON	EFEMP2	ICOS	TNFRSF13C	IRF2BP2	MGP	FLCN	IPO8	ALDH18A1	TGFB2	LTBP1	SCNN1A	SETD2	COL3A1	SCNN1B	FBLN5	TSC1	GMNN	TAPBP	MS4A1	TSC2	CARD10	SERPINA1	EVC2	CD81	LMNA	APC2	CFTR	FARSB	GLA	NDUFAF6	NSD1	TNFSF12	CDT1	TAP2	ORC1	DYNC2LI1	HLA-DRB1	RHOH	GLI1	NFKB1	PI4KA	CR2	CD19	PRKCD	SPINK5	TNFRSF13B	ABCA3	EVC	PRKACA	PRKACB
HP_RESPIRATORY_DISTRESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESPIRATORY_DISTRESS	FOXP3	ABCC6	NEMF	BAP1	ITGA3	TRIP11	LRP12	OTX2	MEGF10	ETFA	PURA	MT-ND1	SIK1	IDH1	IFT52	ORC1	NDUFB11	ACADS	FGFR2	COL13A1	MTM1	SSR4	KLHL7	MT-ND5	CDT1	UBA1	AIFM1	COQ7	ADAMTS13	ORC6	DPM2	NDUFS2	COX7B	TRAK1	ATP1A3	IL1RN	NDUFB8	HCCS	ZIC3	LONP1	EDA	KAT6A	SDCCAG8	MMAA	FGFR3	IFNG	SLC5A7	NAGS	PMM2	PRKAG2	VPS33A	DPM1	ACADVL	ABCA3	ORC4	ZFPM2	CREBBP	CDC6	MMACHC	REEP1	IFT81	PPP1R21	CSF2RB	GBA1	VAMP1	EOMES	FGFR1	EPHB4	GALC	CHAT	ERGIC1	SERPING1	FBP1	SCO2	TRPV6	GATA6	TUBB4A	MT-ND6	RUNX2	COL2A1	ERF	MT-ATP6	PRRX1	RPS26	ETFB	MT-ND4	TP73	BMPER	LYRM4	SLC35A1	SLC2A10	ATP6V1B2	MMUT	MPC1	GMNN	GAA	FOXF1	MYO9A	ASAH1	MT-TE	IL6ST	ENPP1	SRP54	LIFR	UBE3B	SLC1A3	KRT6B	SOX9	TBC1D24	STT3B	HLCS	ALMS1	NUP214	DHX16	MT-ND2	SLC52A3	NGLY1	MAPT	SNRPN	CSF2RA	LAMB3	DMPK	FAM20C	COLQ	SLC18A3	GNAI3	IFIH1	WDR45B	KRT6A	SETBP1	CLPB	SUCLG1	RNF13	ADCY6	CLCNKB	EFTUD2	SBDS	SLC25A1	TPI1	PUF60	BOLA3	SURF1	DNAJC21	KRT17	NDUFAF3	PSAP	KRT16	TSC1	MT-TV	SLC25A3	SNAP25	RRM2B	MGAT2	MT-TK	TK2	RELN	ATP1A2	MYBPC3	XPNPEP2	CNTNAP1	EP300	DYNC2LI1	KATNB1	LAMB2	MOGS	LAMC2	LGI4	ETFDH	CACNA1A	AGRN	STAT5B	SCYL2	EDN1	NDE1	MT-TW	NKX2-1	B3GALT6	MT-TN	MMAB	TSC2	CDC45	USP9X	DISC1	COL25A1	MT-TL1	PLCB4	BTD	MPV17	MT-ND3	POMT1	DNAAF3	SLC22A5	LAMA3	SFTPC	KCNA1	LMNA	SYT2	CHRNE	SFTPB	RPS28	ADNP	SDHA	TRMU	NDUFA8	SLC12A3
HP_ASTHMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASTHMA	IGKC	CCL11	NSUN2	ODC1	TGIF1	CDC42BPB	IL4R	GP1BB	CARD11	ARSL	ADRB2	MUC7	SERPINA1	STXBP1	DDX41	ADA	ZNF699	HMGA2	DOCK8	GP1BA	TGFB1	SUFU	CARMIL2	GNB2	IPO8	HIRA	PLAG1	IFT172	CASP8	SLC9A3	KCNN4	LMX1B	FGFR1	ELOVL4	ZIC2	TBX1	C4B	NEK9	VPS51	GLI2	CREBBP	MTOR	ARL6	CFTR	MS4A2	SIK3	CLCA4	ARVCF	DISP1	FOCAD	PEX5	NOD2	FLG	LIG4	IL6ST	RREB1	SIX3	SLC26A9	NODAL	COX4I2	GP9	ODAD3	CEACAM6	USP7	UNC45A	SLC6A14	SPINK5	COMT	BCL11B	FCGR2A	HLA-G	HMOX1	AFF4	PLA2G7	CCDC28B	SCGB3A2	TRAIP	MIA3	GSTM3	CDSN	CDKN1C	ALMS1	SEC24C	TNF	LRBA	IDS	TDGF1	RIC1	FOXH1	PGM3	NFKB2	TTC26	NKX2-1	GCLC	CDON	DCTN4	IGHG2	CARD10	GRHL2	SDHD	IGF2	IL13	HFE	TBX21	PTGER2	JAK1	SCN4A	SHH	EDNRA	HNMT	JMJD1C	SLC11A1	GAS1	WAC	GNB1	PTCH1	ALOX5	SLC27A4	ALG9	BBS1	CEACAM3	STX1A	PLCG2	DLL1	FGF8	MIF	TBCK	UFD1	ERCC2	LIFR	EP300	TALDO1	PEPD
HP_RECURRENT_ASPIRATION_PNEUMONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_ASPIRATION_PNEUMONIA	IGBP1	CSPP1	HLA-DQA1	EPM2A	ATP6V0A1	NHLRC1	ASAH1	GIPC1	PDHA1	NOTCH2NLC	HLA-DQB1	KAT6A	NTRK1	CRLF1	NFIX	KNSTRN	PIGN	SP110	PIK3CD	KDM6A	KIAA0586	KMT2D	SLC25A24	MID1	GBA1	NOS1	LONP1
HP_ABNORMAL_LUNG_LOBATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LUNG_LOBATION	AKT1	GRIP1	PLXND1	BUB3	SEC24C	TRIP13	FOXF1	CEP57	FANCB	GPC4	LBR	DHCR7	HYLS1	PIGT	NEK8	HIRA	TBX1	MEIS2	FRAS1	GLI3	NKX2-6	ALG9	CC2D2A	GPC3	CHUK	GDF1	GP1BB	EMG1	ARVCF	PUF60	PTEN	JMJD1C	ZIC3	BUB1B	RREB1	WNT3	FREM2	WT1	COMT	BUB1	NODAL	UFD1	RSPO2
HP_PLEURITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PLEURITIS	STAT4	FCGR2B	IL23R	CTLA4	MEFV	HLA-DPA1	PRTN3	IL10	NOD2	TREX1	CCR1	TNFRSF1A	UBAC2	PRG4	HLA-B	IRF4	IFNGR1	TLR4	HLA-DPB1	PTPN22	FCGR2A	DNASE1	C4A	IL12A-AS1	KLRC4	FAS	IL12A	ERAP1
HP_ABNORMAL_PLEURA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PLEURA_MORPHOLOGY	DNASE1L3	FCGR2B	RASA1	CD28	PRSS2	BAP1	FOXE3	CTLA4	COL3A1	IL10	RIT1	SERPINA1	EPHB4	PRSS1	STAT6	IPO8	TLR4	CYBC1	CCBE1	ADAMTS3	FLCN	GPKOW	PTPN11	LTBP1	TGFB2	FAT4	FBLN5	SLC9A3	DICER1	DNASE1	CFH	TNFRSF1B	TSC2	DZIP1L	IL6	ACTA2	VPS51	STAT4	CLCA4	MAT2A	ATP6V1E1	TAPT1	HLA-DRB1	TNFRSF1A	FBN1	HFE	IRF4	FOXC2	WARS2	CEACAM6	LZTR1	PRKAG2	SLC34A2	DSE	ERAP1	DDR2	GPR35	LOX	HLA-B	TXNDC15	PRTN3	PIEZO1	SPINK1	TREX1	EFEMP2	PRG4	TGFBR1	GCLC	IFNGR1	MEFV	HLA-DPB1	IKZF1	KIF11	DCTN4	HRAS	SPP1	PTPN22	ABL1	HEY2	ADAMTS2	CD46	BLTP1	CFI	SMAD2	EDNRA	SOX18	MDFIC	LACC1	IFIH1	ATP6V1A	SLC11A1	CFTR	IL12A-AS1	EIF2AK4	ENG	MIF	TGFBR2	FSHR	BCL2	NR1H4	GAA	FOXF1	CTRC	LAMB3	EXT2	MYLK	CAV1	FCGR2A	TSC1	KCNN4	CALCRL	C4A	IL12A	CLPB	CYBB	IL23R	CBL	BCL6	SERPINF2	NOD2	HELLPAR	ALG14	TCF4	SLC26A9	ITK	SLC6A14	SLC25A24	SMAD4	HMOX1	BMP2	MAP2K1	TGFB3	GSTM3	CCND1	BTNL2	MST1	CHST14	IRAK1	LAMC2	CCR1	SMAD3	NAB2	B3GALT6	DEF6	MFAP5	ZNFX1	SFTPB	KLRC4	CARD10	EXT1	MYH11	THSD4	PLVAP	SEMA4D	PRKG1	BRAF	LYST	TGFB1	MYD88	HLA-DPA1	LAMA3	SFTPC	ELP1	UBAC2	P4HA2	KEAP1	CEACAM3	PKHD1	USP18	STX1A	ELN	FAS	GUSB
HP_APNEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APNEA	SCN2A	CEP290	TSEN2	NDUFA2	ARSB	ZIC2	NDUFA9	CTSK	NACC1	SH3BP2	ASCL1	ARSL	OPA1	CDKL5	PLCH1	CPLANE1	PDHA1	NEFH	IDS	SFTPB	TGIF1	GNE	KIAA0753	PURA	MT-ND1	NODAL	SLC25A20	FBXO28	KIAA0586	NDUFS7	KCNQ2	RET	AP3D1	NDUFAF2	SIX3	ASXL1	DNA2	MECP2	MAGEL2	ATP1A2	VPS51	ARL3	NDUFA13	TCF4	CBY1	SLC39A8	PSAT1	HMGCL	NDUFB8	SCO1	COX15	IDUA	NALCN	KCNQ3	TMEM237	DLL1	SPOP	SKI	BMP2	UNC80	LARP7	CSPP1	GAS1	PHOX2B	ABCA3	HSPG2	PCCB	COQ2	NDUFA12	STIL	SHH	RPGRIP1L	CREBBP	TOPORS	FOXH1	GRIN2A	FGF8	RPS6KA3	TRIP13	DST	PRRT2	KAT6B	TMEM67	HYLS1	TMEM218	CHAT	TSEN54	CTNNB1	FARS2	PSAP	FBP1	SOD1	CC2D2A	HDAC4	MCCC1	HRAS	MT-ND6	DPH5	MT-ATP6	KIF7	MKS1	NDUFA10	DMD	CEP41	ATN1	LRPPRC	PCCA	ACY1	RUNX2	CDON	SMC1A	SUFU	SCO2	SCN4A	LTBP3	GNAI3	GLI2	NDUFS3	ZC4H2	BICD2	TMEM107	NDN	SATB2	NDUFA4	PDE6D	SLC1A3	SOX9	PRKAR1B	PCGF2	FGFR1	NUP214	MYL1	BUB3	TNFSF11	SNORD115-1	MYO9A	NGLY1	ABCC9	SRPX2	FBN1	PWRN1	TMEM216	GNB2	KCNJ11	CHAMP1	GRIN1	PWAR1	POGZ	NDUFV1	SYT1	MYO1H	EXOC2	FGFR3	INPP5E	SLC25A1	ZNF423	GRB10	SLC19A3	DDB1	CEP120	TSPYL1	SURF1	GABBR2	CISD2	CLCN7	NDUFAF3	TSEN34	TOE1	PIBF1	MT-TV	ATP5F1A	NDUFS8	CDK13	TCTN1	SCN8A	AFF4	OCA2	PET100	SNRPN	FGFR2	EP300	NEB	MOGS	HSPD1	NTNG1	USP7	SNX10	EDN1	PIGT	NAA10	FGF13	TCTN2	RNF125	LRRC32	AHI1	PRR12	NDUFA6	GUSB	SCN5A	KIF5A	BTD	PLPBP	NONO	LIAS	SLC5A7	SYT2	NDUFS4	FLCN	MCM3AP	GPR101	PTF1A	NDUFAF5	AMER1	DISP1	SIM1	PLA2G6	BUB1	PCK1	P4HTM	FXR1	NDUFV2	LBX1	NEK1	KATNIP	HACD1	COL3A1	CRYAB	MKRN3	COL13A1	PTCH1	MT-ND5	TDGF1	DPH1	ADAM22	ARMC9	TCTN3	SLC18A3	SDHA	NDUFS2	AIP	ATP1A3	CCDC47	MINPP1	CPT2	BUB1B	PI4KA	AHDC1	DKK1	CEP57	GABRG2	PRKAG2	MTFMT	ALPL	TECPR2	GLUL	RARS2	NOTCH3	ECHS1	OFD1	VAMP1	TWIST1	SLC2A1	FOXRED1	SLC6A9	RERE	PRPS1	BRAF	TRPV4	DDC	ARCN1	MED27	NADK2	PRNP	BRAT1	ARL13B	MT-ND4	GLRA1	SLC25A12	PLAA	HERC2	ZMYM2	GSN	RBM10	TMEM231	NDUFA11	STAT2	LIFR	NPAP1	CTSD	MT-ND2	ADGRG1	CDC42BPB	PLCB4	NDUFS1	HTRA2	LIPT1	COLQ	PRMT7	CACNA1I	H4C5	STAG2	SNORD116-1	CACNA1C	TOGARAM1	TACO1	TSEN15	C2CD3	SUCLG1	B9D2	DCTN1	BCHE	ZBTB7A	SLC6A5	NFIX	SNAP25	MT-TK	CEP104	TERT	NPHP1	GNPTAB	GRIK2	WFS1	CAMK2B	LAMB2	TMEM138	NDUFAF6	RAI1	CACNA1A	AGRN	PEX5	MT-TW	PRPH	MT-TL1	DPAGT1	MT-ND3	PEX13	MRPS34	FUZ	GPHN	SIN3A	TCIRG1	TBR1	FAM149B1	CHRNE	D2HGDH	B9D1	CA2	GBA1	SEPSECS	ACADSB	MTHFR
HP_HEMOPTYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMOPTYSIS	DNASE1L3	FOXE3	COL3A1	IL10	SCNN1G	COL5A2	SERPINA1	MYLK	TGFB1	HLA-B	TLR4	IL12B	MLX	TGFB2	SLC9A3	TSC1	KCNN4	C4A	TSC2	IL12A	ACTA2	STAT4	IL23R	CFTR	CLCA4	CLEC7A	HLA-DRB1	MAT2A	MEFV	GDF2	FBN1	SLC26A9	SMAD4	IFNG	CEACAM6	SLC6A14	SLC34A2	FCGR2A	CTLA4	HMOX1	ERAP1	ACVRL1	GIMAP5	TGFB3	GSTM3	BTNL2	LOX	PRTN3	CCR1	TRAF3IP2	TGFBR1	GCLC	IFNGR1	TLL1	IL17RA	HLA-DPB1	SCNN1A	SCNN1B	MFAP5	DCTN4	KLRC4	MYH11	HEY2	PRKG1	F5	HFE	SMAD2	EDNRA	HLA-DPA1	ENG	SLC11A1	UBAC2	IL17F	CEACAM3	PTPN22	STX1A	IL17RC	ELN	IL12A-AS1	EIF2AK4	MIF	COL5A1	TGFBR2	FAS	SMAD3
HP_PNEUMOTHORAX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PNEUMOTHORAX	TGFB3	GSTM3	DDR2	BTNL2	LOX	CHST14	TXNDC15	FOXE3	COL3A1	LAMC2	SERPINA1	LAMB3	SMAD3	EFEMP2	EXT2	MYLK	TGFBR1	B3GALT6	GCLC	FLCN	IPO8	TGFB2	CAV1	LTBP1	MFAP5	FBLN5	SLC9A3	TSC1	KCNN4	SFTPB	DCTN4	HRAS	ABL1	TSC2	EXT1	DZIP1L	ACTA2	MYH11	CLPB	HEY2	THSD4	CFTR	PRKG1	ADAMTS2	HFE	TGFB1	CLCA4	SMAD2	FBN1	MAT2A	EDNRA	LAMA3	ATP6V1E1	SFTPC	ATP6V1A	SLC11A1	HLA-DRB1	SLC26A9	TGFBR2	CEACAM3	PKHD1	WARS2	CEACAM6	STX1A	SLC6A14	ELN	SLC25A24	SMAD4	MIF	SLC34A2	DSE	HMOX1
HP_SPONTANEOUS_PNEUMOTHORAX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPONTANEOUS_PNEUMOTHORAX	TGFBR2	THSD4	SFTPC	SFTPB	ADAMTS2	CAV1	PKHD1	FLCN	DZIP1L	COL3A1
HP_BRONCHIECTASIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRONCHIECTASIS	DNAJB13	DNAH5	BLM	RASGRP1	POLA1	TERC	NFKB1	SCNN1G	RTEL1	STAT1	SERPINA1	CCDC103	IRF8	DOCK8	TGFB1	DNAAF4	TCF3	IRF2BP2	RSPH3	ALDH18A1	SLC41A1	STK36	SLC9A3	ODAD4	DRC1	LRRC56	CFAP300	PIK3R1	GAS8	STN1	IRF9	CLCA4	FAM13A	CCDC65	TAP2	RAC2	TNFRSF13B	HLA-DRB1	FOXJ1	DNMT3B	NME8	ODAD3	UNC119	CEACAM6	TPP2	NME5	DNAH11	SLC34A2	FCGR2A	ODAD2	ODAD1	DNAH1	MAGT1	IGHM	SPAG1	LRBA	SCNN1B	LAT	DNAI1	ICOS	SYK	CFAP221	RSPH4A	GCLC	BACH2	NEK10	RIN2	RSPH9	PGM3	HYDIN	IL6ST	SCNN1A	FNIP1	SPEF2	CFAP298	ZMYND10	TNFRSF13C	RSPH1	DCTN4	DPP9	CD8A	MCIDAS	CD19	HFE	GAS2L2	EDNRA	DNAAF2	TP73	TERT	STX3	SLC11A1	CR2	DNAAF5	SFTPA1	MIF	ABCA3	ELN	IGKC	PIK3CD	B2M	DNAL1	BLNK	IL21R	CARMIL2	OFD1	NBN	SLC29A3	CCDC40	KCNN4	TAPBP	DNAAF11	POLE	FBLN5	MUC5B	DNAAF6	CFTR	SFTPA2	ATP11A	DNAAF3	CCDC39	SLC26A9	DNAAF1	MPEG1	CD79B	PI4KA	SLC6A14	LRRC8A	CTLA4	DNAI2	HMOX1	ZNF341	DNAH9	BTK	GSTM3	NCKAP1L	SFTPC	RIPK1	BTNL2	TTC12	NFKB2	TAP1	WDR1	ATM	RPGR	SASH3	DSP	MS4A1	IGHG2	CARD10	CD81	TOM1	CCNO	EMILIN1	NDUFA6	TNFSF12	CXCR4	ARHGEF1	IGLL1	TET2	CEACAM3	STX1A	PARN	PRKCD	CD79A
HP_PULMONARY_INFILTRATES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_INFILTRATES	BTNL2	PRTN3	PRKCD	IL10	CCN2	SMPD1	CCR1	FAS	IFNGR1	LPIN2	UBA1	HLA-B	CASP10	BACH2	DOCK2	HLA-DRB1	SLC41A1	TLR4	RAB27A	HLA-DPB1	MALT1	CAV1	KLF1	TSC1	C4A	SFTPB	FOXP1	KLRC4	TSC2	FASLG	IL12A	STAT4	IL23R	RASGRP1	BCL11A	CCR6	IL2RA	BCL10	MYD88	MEFV	HLA-DPA1	PRIM1	UBAC2	APOE	HBB	IRF5	BIRC3	HBG1	NKX2-1	PTPN22	HBG2	PDGFRA	IL12A-AS1	ASAH1	SLC34A2	CTLA4	GBA1	ERAP1
HP_ABNORMAL_CEREBRAL_VENTRICLE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CEREBRAL_VENTRICLE_MORPHOLOGY	AMPD2	FKRP	ARSB	ZIC2	SEMA3E	ODC1	YARS1	TRNT1	TMCO1	HS6ST2	CTCF	CUL4B	IFT43	PLCH1	POMT1	HECW2	PDHA1	FUZ	ZBTB20	RPGRIP1	GPC4	MFN2	TGIF1	ZNF699	HYLS1	CPT2	B9D2	ZIC1	RSPH3	RNASEH2C	B3GALNT2	ALDH7A1	SPG11	BMP4	SMARCB1	NODAL	NDUFB11	LMNB2	SETD2	PRKAR1A	FAR1	PGAP1	TCIRG1	DPYSL5	SPATA5L1	SIX3	VPS51	CYP26C1	RNF113A	MFSD2A	FBXW11	SEC24D	GP1BB	WDR26	SLC39A8	ZIC3	TAPT1	TMEM67	TAF8	PUS3	ZEB2	WAC	COX16	DOCK6	TMEM237	DLL1	SLC25A1	SKI	RAD51	CSPP1	TINF2	DAG1	NFIX	ARID1B	PALB2	TRAPPC14	ZBTB18	DSE	TUBA1A	ADGRG1	RNASEH2B	ANKLE2	HK1	DNAH1	KRAS	NRCAM	POLR3A	BRCA2	LMNB1	HSD17B4	NOTCH1	RPS6KA3	TRPS1	TRIP13	NIPA1	DPH1	FGFR3	EOMES	WARS2	DNAI1	KIDINS220	TMEM218	CFAP221	TSEN54	POMT2	FBP1	PPP2R5D	MKS1	GNAS	CLTC	GMPPB	LONP1	NPHP3	CC2D2A	KIF7	FLII	PIK3CA	NCAPG2	KATNB1	TUBGCP2	LARGE1	RNU7-1	POMGNT1	ARID1A	GLI2	MCIDAS	MAD2L2	TMTC3	GAS2L2	FGF8	COL4A1	KIF1A	RAI1	EIF2S3	CDON	SUFU	ARX	CLP1	POMGNT2	TPRKB	ASNS	BRIP1	MOCS1	EBP	MRE11	DHCR24	ERCC3	TRRAP	TMEM107	NDN	P4HB	COPB2	HTT	MAN2B1	PPP1CB	CRPPA	ZBTB11	FTO	DNMT1	RAD21	TUBB	LETM1	FGFR1	TNFSF11	SNORD115-1	PIGB	FOXF1	ERMARD	DHX30	PAK2	LAGE3	KDM6A	GABRD	OFD1	COX20	TCTN3	KMT2D	CTNNB1	CRB2	SALL1	SAMD9	TCF4	UBE3B	TSEN2	THOC2	SLC9A6	ZNF423	RBPJ	ZBTB24	KIAA0586	TTC5	GPC3	SURF1	ERCC5	FANCI	WNT3	DNAAF1	ANTXR1	TBCE	LSM11	MTOR	TNPO2	ATXN1	APC2	TUBB2A	MCPH1	CDKN2A	RFWD3	TNFRSF11A	VAC14	ASXL1	HBA2	DCC	PARN	CCDC22	SLC35A2	DOK7	ZMIZ1	NRAS	NDST1	SEC24C	TRAF7	WASF1	NOTCH2	WDR73	XPR1	RPGRIP1L	STRADA	RPGR	NADK2	CCDC88C	FLI1	PIGG	SON	FOXH1	PEX10	PGAP3	VANGL1	L1CAM	MTRR	ARSI	FKTN	GBA1	SMC1A	SHH	TCTN2	C12orf57	ERCC6	SIN3B	DYRK1A	SOX11	ZNF462	CCDC103	MAGEL2	LRRC32	LAMA1	CCNO	NFIA	SIN3A	YIPF5	PRDX1	SOX9	HNRNPH1	ATP6AP2	TGFBR2	ACD	PTDSS1	OGDH	MED25	HNRNPU	CEP63	VANGL2	DISP1	SIM1	TRPV4	PIK3CD	CCDC39	BUB1	FANCC	NDUFA8	TSC2	BRD4	TRIM71	KATNIP	DNAJB13	TYROBP	TUBB2B	STIL	TSC1	ACP5	KCNK4	MMACHC	SNRPN	GCDH	POLRMT	SHOC2	BGN	NF1	TBXT	MKRN3	KIFBP	RAB18	MYMK	KMT5B	NANS	TRAPPC10	CSF1R	XRCC4	FGFR2	PLG	OCRL	CTBP1	INPP5E	GABBR2	SATB1	TBX1	ARMC9	AP4B1	FGFRL1	GJB2	NDUFS8	HCCS	PAK3	BUB1B	SHMT2	TMEM231	OSTM1	LIPT2	IRF4	IFT80	ERCC4	CHD4	PEX1	IFNG	FOXJ1	EML1	NME8	FANCL	DDX3X	PMM2	GTF2H5	PDGFB	PRKAG2	OTUD6B	MAP2K2	BICD2	ODAD2	LMBR1	FH	FAT4	FLNA	GFAP	PPP1R21	NOTCH2NLC	GON7	MAPKAPK5	IDS	CLIC2	FAM20C	NUP88	PTCH2	DNAH11	RSPH4A	SLC6A9	TUBB3	NEK10	RERE	PIGV	BRAF	HYDIN	ATXN2	FAM111A	VPS37A	SPEF2	TRAPPC6B	TMEM216	RAC1	AHCY	RECQL4	CPLANE1	OPHN1	ALG3	MUSK	HDAC8	IFT172	DNAAF2	PIK3R2	TP53	ALG13	CCDC88A	TAOK1	B9D1	GLB1	HERC2	SMARCC2	PIGN	POMK	PHGDH	BICRA	MOCS2	HEPACAM	CIT	XRCC2	GLI3	OCA2	PNKP	TAF2	TBC1D24	NSUN2	SH2B1	NUP133	PLAA	NAXE	PCNT	ATP1A3	B4GALT1	OSGEP	RNASEH2A	VPS53	JAM2	DTYMK	TERT	RAB3GAP1	KPTN	TIMMDC1	HIRA	PPP2CA	SLC29A3	AP4E1	VPS33A	PRKCZ	SETBP1	VRK1	TOGARAM1	HDAC6	ALDH6A1	TMEM222	PPP2R1A	SOX4	ADAT3	MAG	CREBBP	H3-3A	POR	STAC3	CFAP43	WASHC5	DNMT3A	AKT3	EMG1	ARVCF	CLCN4	ITPR1	ALG2	AP1S2	FANCF	PAFAH1B1	TDGF1	CARS1	TRMT1	FARS2	NEK1	GAN	SMO	CEP104	CCDC174	SLC25A24	NUP188	KCNN2	PRNP	DPM1	MEF2C	NPHP1	OGDHL	DNAH9	AHI1	LIPT1	CHD3	PPP1R12A	GRIK2	TBL1XR1	DNAAF11	CHST14	VPS11	TMEM138	FANCM	NSD1	PTEN	DMPK	RNF213	UBE4B	BCOR	CCND2	GAS1	TTC26	PYCR1	PIGA	CASK	ATP6V0A2	ATP11A	MAST1	NAA10	TBCK	DPF2	SAMHD1	ADAR	EXOC8	COL3A1	PIGU	PDHX	USP9X	JAM3	ERCC2	SLC2A1	IDUA	JMJD1C	B3GAT3	FANCE	RNU4ATAC	NEXMIF	PTCH1	MAP2K1	FANCG	RAPSN	RNASET2	USP18	SLC25A19	PORCN	D2HGDH	ODAD1	SEPSECS	ATP1A1	RSPO2	ROGDI	RASA1	EOGT	SMARCE1	KAT6B	IARS2	FANCB	HSPG2	SASS6	NDE1	MTHFS	KIAA0753	UBE2T	DEAF1	UGDH	DIAPH1	CASZ1	PHC1	IDH1	DYNC2I1	B4GAT1	TUBG1	FBXO28	GNAO1	EXTL3	STK36	IFT140	WDR35	CFAP300	FLVCR2	TNNI3	ATP6V1A	COX6B1	SHPK	COL18A1	DHCR7	PDHB	KANK1	CBY1	SMARCA4	KIF14	CCDC65	NDUFB8	TGDS	TET3	LIG4	TUBA8	CEP120	EXT1	GALC	MED12	RREB1	GRM1	RTEL1	CELF2	TAF1	GRIN1	TCTN1	DNAH5	CEP290	GFM2	ASPM	SPAG1	DYNC2H1	ASXL2	KMT2C	YY1	BAP1	TRAPPC12	PRDM16	KNSTRN	PSAP	QARS1	EHMT1	C2CD3	HDAC4	RAD51C	ASXL3	HRAS	GTF2E2	NF2	CTSC	PDPN	CEP41	CENPJ	CDC42	GPSM2	FANCA	PIGO	DNAAF5	SCO2	ATP6V1B2	WDR81	EPHB4	EVC2	KANSL1	NCAPD3	NEU1	ACTG1	ZNHIT3	KLHL15	SMARCD1	MID1	NUP107	FOXRED1	ZNF148	H1-4	MT-CYB	PDE2A	RXYLT1	TAF13	ERF	CPLX1	BUB3	KDM4B	ACTA2	PAX6	TMEM147	CSGALNACT1	SPTBN1	FBN1	PWRN1	GAS8	RTTN	CHD7	GNB2	SLC20A2	CYFIP2	ERCC8	WDR45B	PWAR1	CDKN1C	NSD2	KRT5	SPRED2	ALG12	DOHH	CDCA7	BRCA1	EXOC2	SLC12A6	CDK6	ARHGAP31	CENPF	NIPA2	CCL2	TBX15	CLCN7	NDUFAF3	TSEN34	MYT1L	ODAD3	TOE1	B3GLCT	HELLS	CLCN3	UNC45A	MMP23B	CDK5RAP2	COMT	DNAI2	MTM1	ANKRD11	SF3B4	LAMB1	PSAT1	TTC12	ACTB	DCHS1	SNX10	COX7B	B3GALT6	HUWE1	ZSWIM6	DISC1	TBC1D2B	CEP135	RNF125	PMPCA	COX8A	GNAQ	EZH2	TMX2	NDUFA6	GUSB	CEP83	BRF1	ATXN3	PDGFRB	ZPR1	DNAAF6	PLPBP	PUF60	THOC6	CILK1	ALG8	KCNQ1OT1	MPDU1	AMER1	KRT14	COG8	SHANK3	TGFBR1	TXN2	SUCLA2	TREM2	AFF3	MYMX	COG5	MPDZ	TXNDC15	MYOD1	MYORG	DNAAF4	FANCD2	MCM7	MC1R	PYCR2	RHOBTB2	SPEN	ODAD4	DLL4	SMG9	PIBF1	NDUFS2	SIK3	SUMF1	GRIA3	PHACTR1	OCLN	H4C9	MINPP1	PEX19	MBTPS2	KDM1A	ZNF335	PTPN23	VPS13A	PIGQ	CTDP1	TRAIP	GLUL	COL4A2	SEC31A	MAPRE2	NOTCH3	GTPBP2	UBTF	NGLY1	KNL1	IQSEC2	MPLKIP	ALPK3	ZC4H2	TBCD	LUZP1	AKT1	CFAP298	RSPH1	MRPS16	DKC1	WDR4	TRIM37	PPFIBP1	PUS7	ARL13B	IGF2	RSPH9	RRAS2	BLTP1	DYNC2I2	MT-ATP6	KCNAB2	ISCA1	TREX1	NKX3-2	WDR62	PI4KA	KCNQ1	EVC	MAF	SLC17A5	ZMYND10	NPAP1	ESCO2	FOXP3	ZNF292	CDC42BPB	CEP57	LRRC56	HTRA2	ATP6V1E1	FIG4	SNIP1	YWHAE	TSFM	KAT8	DENND5A	STAG2	DNAL1	SNORD116-1	GRN	TSEN15	RAC3	TARS1	MAN2C1	CHST3	DNAAF3	SMC3	DNMT3B	CDC40	SF3B2	MDM2	COG6	HERC1	NHLRC2	CCDC40	USP7	PIEZO2	GJB6	SMOC1	ARID2	RAB3GAP2	ARL3	FRAS1	TP53RK	CHEK2	SLX4	BMP2	HBA1	INTU	POLR2A	NIPBL	PLXNA1	PLOD3	MSL3	IFIH1	DHX37	CEP152	SLC18A3	HIBCH	AP4M1	WLS	SLC13A5	METTL5	DCX	MAB21L1	OTUD5	SOX2	SHQ1	VSX1	ADNP	DRC1	NAXD	UFD1	MTHFR	EP300
HP_VENTRICULOMEGALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENTRICULOMEGALY	AMPD2	FKRP	SEMA3E	ODC1	YARS1	TMCO1	HS6ST2	CTCF	CUL4B	IFT43	POMT1	HECW2	PDHA1	ZBTB20	RPGRIP1	ZNF699	HYLS1	CPT2	B9D2	ZIC1	RSPH3	RNASEH2C	ALDH7A1	SPG11	BMP4	SMARCB1	LMNB2	SETD2	FAR1	PGAP1	DPYSL5	SPATA5L1	VPS51	RNF113A	MFSD2A	FBXW11	WDR26	SLC39A8	TAPT1	TMEM67	TAF8	PUS3	ZEB2	WAC	COX16	SLC25A1	TINF2	DAG1	NFIX	ARID1B	PALB2	TRAPPC14	DSE	TUBA1A	ADGRG1	RNASEH2B	ANKLE2	HK1	DNAH1	KRAS	NRCAM	BRCA2	LMNB1	HSD17B4	RPS6KA3	TRPS1	TRIP13	NIPA1	DPH1	FGFR3	EOMES	WARS2	KIDINS220	CFAP221	TSEN54	FBP1	PPP2R5D	MKS1	CLTC	GMPPB	LONP1	NPHP3	KIF7	FLII	PIK3CA	KATNB1	LARGE1	RNU7-1	POMGNT1	CSPP1	ARID1A	MCIDAS	MAD2L2	TMTC3	GAS2L2	COL4A1	KIF1A	RAI1	EIF2S3	ARX	CLP1	POMGNT2	TPRKB	ASNS	BRIP1	MOCS1	EBP	MRE11	DHCR24	TRRAP	TMEM107	NDN	COPB2	HTT	PPP1CB	CRPPA	ZBTB11	FTO	DNMT1	RAD21	TUBB	LETM1	SNORD115-1	PIGB	FOXF1	DHX30	KDM6A	GABRD	OFD1	COX20	TCTN3	KMT2D	CTNNB1	CRB2	TCF4	UBE3B	TSEN2	THOC2	SLC9A6	TTC5	GPC3	SURF1	ERCC5	DNAAF1	ANTXR1	TBCE	LSM11	MTOR	TNPO2	ATXN1	APC2	TUBB2A	MCPH1	RFWD3	TNFRSF11A	ASXL1	PARN	CCDC22	SLC35A2	DOK7	ZMIZ1	NRAS	NDST1	TRAF7	GPC4	WASF1	XPR1	STRADA	RPGR	NADK2	CCDC88C	FLI1	SON	PGAP3	MTRR	FKTN	SMC1A	C12orf57	ERCC6	SIN3B	DYRK1A	SOX11	ZNF462	CCDC103	MAGEL2	LRRC32	LAMA1	CCNO	DLL1	NFIA	SIN3A	YIPF5	SOX9	ATP6AP2	ACD	MED25	HNRNPU	CEP63	SIM1	PIK3CD	CCDC39	BUB1	FANCC	NDUFA8	RPGRIP1L	BRD4	TRIM71	DNAJB13	TYROBP	TUBB2B	ACP5	KCNK4	SNRPN	GCDH	POLRMT	BGN	MKRN3	CC2D2A	KIFBP	RAB18	MYMK	KMT5B	NANS	TCTN2	TRAPPC10	CSF1R	XRCC4	PLG	OCRL	CTBP1	GABBR2	SATB1	AP4B1	FGFRL1	GJB2	NDUFS8	BUB1B	SHMT2	TMEM231	OSTM1	LIPT2	IFT80	CHD4	FOXJ1	EML1	NME8	DDX3X	PMM2	GTF2H5	OTUD6B	BICD2	ODAD2	FAT4	PPP1R21	NOTCH2NLC	GON7	MAPKAPK5	NUP88	DNAH11	RSPH4A	SLC6A9	TUBB3	NEK10	RERE	HYDIN	ATXN2	VPS37A	SPEF2	TRAPPC6B	TMEM216	RAC1	AHCY	POMT2	OPHN1	WDR73	ALG3	HDAC8	IFT172	DNAAF2	PIK3R2	FANCI	CCDC88A	TAOK1	ERCC4	B9D1	GLB1	HERC2	SMARCC2	PIGN	PHGDH	FGFR1	MOCS2	HEPACAM	CIT	XRCC2	GLI3	GBA1	OCA2	SKI	PNKP	TBC1D24	ERCC3	SH2B1	PLAA	NAXE	PCNT	ATP1A3	B4GALT1	OSGEP	RNASEH2A	VPS53	JAM2	DTYMK	RAB3GAP1	KPTN	TIMMDC1	PPP2CA	AP4E1	PRKCZ	SETBP1	VRK1	ALDH6A1	PPP2R1A	SOX4	ADAT3	B3GALNT2	MAG	H3-3A	STAC3	WASHC5	L1CAM	DNMT3A	AKT3	EMG1	CLCN4	ITPR1	ALG2	AP1S2	FANCF	PAFAH1B1	CARS1	FARS2	NEK1	GAN	SMO	CCDC174	NUP188	KCNN2	PRNP	DPM1	MEF2C	OGDHL	DNAH9	LIPT1	CHD3	GRIK2	POMK	TBL1XR1	DNAAF11	CHST14	VPS11	FANCM	NSD1	DMPK	RNF213	UBE4B	BCOR	TTC26	PIGA	CASK	ATP6V0A2	ATP11A	MAST1	NAA10	TBCK	DPF2	SAMHD1	ADAR	COL3A1	PDHX	USP9X	JAM3	FANCE	RNU4ATAC	NEXMIF	FANCG	RAPSN	RNASET2	USP18	SLC25A19	D2HGDH	ODAD1	SEPSECS	ATP1A1	ROGDI	FANCB	STIL	SASS6	NDE1	MTHFS	KIAA0753	UBE2T	DEAF1	UGDH	DIAPH1	FGFR2	CASZ1	PHC1	IDH1	DYNC2I1	B4GAT1	TUBG1	FBXO28	GNAO1	SMARCE1	EXTL3	STK36	IFT140	WDR35	CFAP300	FLVCR2	TNNI3	ATP6V1A	COX6B1	SHPK	COL18A1	DHCR7	HSPG2	PDHB	KANK1	SMARCA4	KIF14	CCDC65	NDUFB8	TGDS	TET3	CCND2	CEP120	EXT1	GRM1	RTEL1	CELF2	TMEM138	TAF1	GRIN1	TCTN1	MUSK	DNAH5	GFM2	ASPM	SPAG1	DYNC2H1	ASXL2	KMT2C	CEP290	YY1	TRAPPC12	PRDM16	KNSTRN	PSAP	QARS1	EHMT1	C2CD3	KIAA0586	HDAC4	RAD51C	ASXL3	HRAS	GTF2E2	POLR3A	PDPN	CENPJ	CDC42	GPSM2	FANCA	PIGO	DNAAF5	SCO2	ATP6V1B2	WDR81	EVC2	KANSL1	NCAPD3	ACTG1	ZNHIT3	KLHL15	SMARCD1	MID1	FOXRED1	ZNF148	H1-4	PDE2A	RXYLT1	ZIC2	TAF13	SHH	CPLX1	BUB3	ACTA2	PAX6	TMEM147	CSGALNACT1	SPTBN1	FBN1	PWRN1	GAS8	RTTN	CHD7	GNB2	SLC20A2	CYFIP2	ERCC8	WDR45B	PWAR1	CDKN1C	NSD2	KRT5	SPRED2	ALG12	DOHH	PTEN	BRCA1	EXOC2	INPP5E	CDK6	NIPA2	NDUFAF3	TSEN34	ODAD3	TOE1	B3GLCT	CLCN3	MMP23B	CDK5RAP2	DNAI2	MTM1	ANKRD11	PSAT1	TTC12	ACTB	DCHS1	DNAI1	HUWE1	ZSWIM6	DISC1	TBC1D2B	CEP135	RNF125	PMPCA	COX8A	AHI1	EZH2	TMX2	NDUFA6	BRF1	ATXN3	PDGFRB	DNAAF6	PLPBP	PUF60	THOC6	CILK1	ALG8	KCNQ1OT1	MPDU1	KRT14	COG8	SHANK3	SUCLA2	TREM2	AFF3	MYMX	COG5	MPDZ	TXNDC15	MYOD1	MYORG	DNAAF4	MCM7	PLCH1	PYCR2	RHOBTB2	SPEN	ODAD4	SMG9	NDUFS2	GRIA3	PHACTR1	OCLN	MINPP1	PDGFB	MBTPS2	ZNF335	PTPN23	SUMF1	VPS13A	PIGQ	CTDP1	TRAIP	GLUL	COL4A2	SEC31A	MAPRE2	GTPBP2	UBTF	NGLY1	KNL1	IQSEC2	MPLKIP	ALPK3	ZC4H2	TBCD	LUZP1	ARHGAP31	CFAP298	TMEM237	RSPH1	MRPS16	FANCD2	DKC1	TRIM37	PPFIBP1	PUS7	IGF2	RSPH9	RRAS2	BLTP1	ARMC9	DYNC2I2	MT-ATP6	KCNAB2	MED12	NDUFB11	ISCA1	TREX1	WDR62	PI4KA	KCNQ1	EVC	MAF	ZMYND10	NPAP1	FOXP3	SLC12A6	ZNF292	CDC42BPB	CEP57	LRRC56	HTRA2	ATP6V1E1	SNIP1	YWHAE	TSFM	KAT8	DENND5A	DNAL1	SNORD116-1	GRN	TSEN15	RAC3	TARS1	MAN2C1	TERT	DNAAF3	SMC3	COG6	HERC1	NHLRC2	CCDC40	USP7	GJB6	ARID2	RAB3GAP2	ERCC2	SLX4	BMP2	INTU	POLR2A	NIPBL	PLOD3	FANCL	MSL3	IFIH1	CEP152	SLC18A3	HIBCH	AP4M1	WLS	FUZ	ESCO2	METTL5	DCX	PTCH1	MAB21L1	OTUD5	PIEZO2	SHQ1	OGDH	VSX1	ADNP	DRC1	RAD51	NAXD	MTHFR	FIG4
HP_CEREBRAL_CORTICAL_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_CORTICAL_ATROPHY	AMPD2	BRD4	PIGN	MT-ND4	ADGRV1	MEF2C	TREM2	IARS2	TYROBP	CACNA1E	VPS37D	TMCO1	GLYCTK	SPATA5	MMACHC	SNRPN	NDE1	SLC39A4	FA2H	SACS	CARS2	KCNT1	GRN	VRK1	HIVEP2	CASZ1	C9orf72	RAB18	SPG11	BMP4	ATP13A2	GPKOW	KRAS	ALDH18A1	RHOBTB2	GNPTAB	SPEN	MVK	METTL27	PPP2R2B	NUS1	MAPT	APP	SKI	MECP2	MAGEL2	SLC25A15	HDAC8	TRIM8	HSPG2	ACO2	UBTF	TCTN3	MT-TH	MYO7A	MT-TL1	TRAK1	SLC25A46	SLC39A8	GRIA3	ESPN	PHACTR1	GTF2IRD1	MINPP1	PUS3	MBTPS2	CAMTA1	DYRK1A	LIPT2	NUP133	PDE6D	RTEL1	PEX1	SMC1A	TINF2	VCP	MARS2	CLCN4	LRRK2	EXOC7	POMT2	GTF2H5	OTUD6B	MAP2K2	BICD2	ACTG1	ERCC3	DPAGT1	VPS13A	EXOSC8	GUF1	CLN5	EXOSC5	TBC1D20	CTDP1	TMEM70	RARS2	BCL7B	MLXIPL	POMT1	ERCC5	EXOSC9	NEK1	CHMP2B	GON7	RPS6KA3	CDH23	LARGE1	NCF1	NDP	GABRA5	PEX7	USH1C	CPA6	POLR3B	RAB3GAP2	TOMM40	MPLKIP	TRAPPC12	CNKSR2	PRDM16	TBCD	RMND1	PIGV	LUZP1	EHMT1	FKBP6	TRAPPC6B	RFT1	RFC2	EMX2	XPC	DKC1	PYCR2	GTF2E2	CHCHD10	TBL2	POLG2	HRAS	MT-ND6	PPFIBP1	COG1	UBE3A	PDPN	ELOVL4	FKRP	CDC42	PLK4	GTF2I	SNX14	KIF1A	MT-ATP6	RNU4ATAC	KCNAB2	FRMPD4	TUBGCP6	POU4F1	PLAA	GRIA4	MT-TS2	UGP2	CLP1	GRIN1	CLIP2	USH1G	SPG7	BICRA	PSEN1	TRRAP	PGAP1	SCYL2	ZNHIT3	NDN	MT-TQ	MAF	STX1A	OCA2	MAN2B1	CIZ1	GBA2	DNAJC30	RAD21	VPS35	MT-ND5	PSEN2	ARX	TMEM147	RERE	NOVA2	AP1S2	KDM6A	AGTPBP1	KMT2D	GABRD	SNCA	ERCC2	MYO5A	TSEN54	TBK1	AP4B1	TSEN15	PCDHGC4	AP4E1	POLR3A	DOCK7	DDB2	MT-CO1	PAFAH1B1	PRKCZ	SETBP1	TUBGCP4	BRAF	DNAJC13	ABCA7	HSD17B10	POGZ	EXOSC3	XPA	PRUNE1	AP4M1	HIC1	EPG5	H3-3A	ALS2	CYB5A	TARS1	ACTB	SLC9A6	TMEM106B	TERT	FGFR1	PIGA	BCAP31	GMPPB	SMC3	SLC35C1	B4GALNT1	CISD2	GIGYF2	SIX3	ERCC6	APOE	HERC1	CARS1	BUD23	GNAQ	FARS2	ADARB1	FMR1	MMP23B	EIF4G1	CIB2	SQSTM1	BAZ1B	CYB5R3	PRNP	ELN	PARN	PARS2	RAB3GAP1	ERCC4	RNF113A	WFS1	CWC27	WHRN	PCDH15	SORL1	JPH3	CASK	FBLN1	MT-CO2	UBE4B	EIF4H	NIPBL	B3GLCT	OPHN1	DGUOK	SPTAN1	GTF2IRD2	LIMK1	MDH2	ATRX	ERCC1	PIGL	SHH	MMADHC	MT-TF	OCLN	RNF125	USH2A	TMEM270	YWHAE	MUC1	PRDX1	GBA1	NEXMIF	MAP2K1	ATXN2	AP4S1	PIGS	ACD	STUB1	TWNK	VPS13C	GRM7	HNF1B	SHQ1	ZSWIM6	MT-CO3	PDZD7	ALG8	MT-TW	TRAPPC9	VARS1	HEXB	NDUFA8	MT-ND1	IKBKG
HP_GENERALIZED_MYOCLONIC_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_MYOCLONIC_SEIZURE	SCN1A	PHGDH	TSEN2	DPM2	MT-TF	MT-ND2	SLC25A22	KCNJ11	SPATA5	PLAGL1	TANGO2	CDKL5	SLC38A3	STAT3	GABRD	CHD2	IER3IP1	TBC1D24	KCTD7	CACNA1A	MT-ND1	SCN1B	SIK1	ALDH5A1	SETD2	ABCC8	PDX1	SDHB	TSEN15	STX1B	MT-ND5	GRN	PCDH19	ELOVL4	AFG3L2	GABRG2	SLC25A15	PTEN	EPM2A	GLB1	SCN9A	PCDH12	NSD1	HACE1	MT-TL1	ASAH1	SMS	AP2M1	NDE1	MAPK10	MT-TP	GBA1	GABRB3	DNM1L	DNM1	TSEN34	PSAP	PTRH2	DHDDS	MT-TV	MT-TK	NEXMIF	GRIN1	MFSD8	GCK	ALDH7A1	DPAGT1	ADGRG1	ARX	DPM1	CLCN2	MBOAT7	SCN2A	CUX2	LNPK	MT-TH	CARS2	GPHN	GAMT	GABBR2	STXBP1	SDHAF1	NGLY1	NTNG1	GALC	PIGT	SDHA	MT-TW	OPHN1	TSEN54	KNSTRN	PIGA	KCNT2	PIK3CD	SLC12A5	NEU1	DYRK1A	CPLX1	BTD	MT-ND6	MT-RNR1	ADGRV1	MT-ND3	APC2	MT-ATP6	INS	HYMAI	PRICKLE1	SDHD	TRIT1	NHLRC1	SAMD12	MT-ND4	BRAT1	MT-TQ	HCN1	SMC1A	EFHC1	CLN8	NDUFA1	PRDM8	SYNGAP1	TRAPPC9	SLC6A1	GABRA1	MECP2	CILK1	NUS1	MT-TI	SEPSECS	BUB1B	MT-TS2	PAFAH1B1	MTHFR	SLC2A1
HP_POLYMICROGYRIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYMICROGYRIA	FGF8	KATNIP	MN1	TP53RK	DLL1	KAT5	TUBB2B	CUL4B	SNRPN	NSDHL	CPT2	FKTN	RAB18	B3GALNT2	FBXO28	CRPPA	AHI1	FKRP	PTEN	PAX6	PIBF1	ARMC9	ATP6V1A	MAGEL2	ATP1A2	COL18A1	PEX26	MTOR	SRPX2	RTTN	CBY1	WDR62	PEX3	SIX3	CCND2	OCLN	TUBA8	ZEB2	SHMT2	AKT3	PI4KA	PIK3CA	POMK	TMEM237	DAG1	PEX1	EML1	CSPP1	SCN3A	CDON	BICD2	ACTG1	FH	POLR3A	POMT1	PEX6	COL4A2	VPS4A	HSD17B4	GPHN	FOXH1	PEX19	EOMES	PTCH1	INPP5E	POMT2	SMO	TMEM67	HYLS1	TMEM218	TDGF1	GRIN1	SRD5A3	ARHGAP31	GMPPB	DEPDC5	C2CD3	MECP2	KIF5C	RAC1	KATNB1	LARGE1	RECQL4	LAGE3	POMGNT1	CPLANE1	PEX13	NPRL2	PPFIBP1	MKS1	ARL13B	CEP41	TUBB3	TMTC3	ATN1	GPSM2	PIK3R2	COL4A1	TCTN2	BMPER	CCDC88A	GNB1	WT1	DOCK6	SUFU	ATP6V1B2	POMGNT2	MAP1B	PEX2	DHCR24	TRRAP	SUZ12	NDN	KLHL15	OCA2	RAB3GAP2	GAS1	RXYLT1	SHH	TBC1D24	TUBB	ADGRG1	PIGB	EIF2AK2	ERMARD	ATP1A3	ATP6V1E1	DYNC1H1	PEX11B	ODC1	TUBA1A	PEX12	TOGARAM1	LAMC3	B9D2	TBC1D20	ACTB	IBA57	MAN2C1	PDHA1	KIAA0586	CEP120	PEX5	PEX10	STIL	SF3B4	CEP104	SNAP29	MAPK8IP3	TGIF1	SLC5A6	TCTN1	NPHP1	MBOAT7	ERCC1	LONP1	KIFBP	ARL3	TUFM	PPP1R12A	B4GAT1	PEX14	MICU1	RPGRIP1L	PEX16	SON	NODAL	DHX37	DISC1	ATP6V0A2	DISP1	NPRL3	COL3A1	FUZ	TMX2	RAB3GAP1	SIN3A	RNU4ATAC	ZNHIT3	GLI2	CILK1	ZIC2	USP18	FDFT1	B9D1	FIG4
HP_ABNORMAL_UPPER_MOTOR_NEURON_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_UPPER_MOTOR_NEURON_MORPHOLOGY	ALS2	CHCHD10	SPG7	MATR3	PNPLA6	FUS	C9orf72	SIGMAR1	VCP	TARDBP	TBK1	ALDH18A1	ERLIN2	GBE1	TYROBP	SQSTM1
HP_EPISODIC_ATAXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISODIC_ATAXIA	KCNA1	PIGP	SCN2A	TRIM8	CACNB4	SCN1B	SLC2A1	NEUROD2	PDHA1	CACNA1A	SLC25A22	SLC6A19	CASK	CDKL5	TPK1	GNAO1	PIGQ	GRM7	ARX	ATP1A3	SLC1A3	DMXL2	NFIX	OTC	SIK1	ATP1A2	GRIN1	PNKP
HP_PORENCEPHALIC_CYST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PORENCEPHALIC_CYST	CPLANE1	EOGT	LAMB1	COL4A2	NRAS	NOTCH1	RBPJ	ARHGAP31	COLGALT1	KIF1A	RNASEH2A	DOCK6	RNASEH2C	GPX4	SNRPB	PLOD3	TREX1	LSM11	RNU7-1	IFIH1	FGFR1	HRAS	OFD1	COL4A1	ZNHIT3	TCTN3	SAMHD1	DLL4	ADAR	RNASEH2B	KRAS
HP_STATUS_EPILEPTICUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STATUS_EPILEPTICUS	SCN2A	SCN1A	ODC1	CACNA1E	WDR4	GLYCTK	ITPA	SCN8A	EEF1A2	DNM1	CARS2	KCNT1	CILK1	GABRA5	CACNA2D1	PLPBP	NECAP1	CDK19	KCTD7	PSAP	CACNB4	HCN1	ALDH7A1	CACNA1B	RNU4ATAC	NDUFB11	FBXO28	LMNB2	ALDH5A1	RHOBTB2	FGF13	NARS2	ECE1	STX1B	CDKN1B	ATP1A3	NUS1	SYNGAP1	SATB1	ATP1A2	VPS51	AP3B2	EPM2A	CNKSR2	SCN9A	IQSEC1	COX7B	TRAK1	DHDDS	ASAH1	PEX5	HCCS	NTRK2	AKT3	ARV1	KCNQ3	DNM1L	UCP2	KCNQ2	FGF12	IFNG	ACTL6B	GABRD	GABRA2	GRIA3	PRODH	GRIN1	ADORA2A	GRIN2B	CDKN2B	POLG	FH	TICAM1	CACNA1A	GRIN2A	SLC38A3	PRRT2	ABCC8	SLC19A3	YWHAG	UPB1	SLC2A1	AMACR	VAMP2	PCDH19	GABRA1	ATP6V0A2	QARS1	PPP3CA	EHMT1	SZT2	KIF11	PIK3CA	COG8	ADGRV1	EFHC1	NHLRC1	SMARCAL1	GABRB2	MRM2	BRAT1	CCDC88A	GNB1	GPAA1	GOSR2	SLC25A12	ARX	PARS2	GRIA4	CLCN2	DEAF1	DHCR24	CDKN2C	KCNA2	SLC12A5	SCN1B	PDE2A	SLC1A3	SVBP	CTSD	SYNJ1	KCNJ11	ST3GAL5	DTYMK	COQ2	TLR3	SCN3A	TRAPPC2L	SLC13A5	DALRD3	GABRG2	COX10	TBK1	BCL10	TBC1D20	SMARCA2	PIGA	PDSS2	TBC1D24	JRK	ATXN10	TRAF3	UQCC2	TSC1	MTOR	WWOX	RRM2B	AARS1	CAD	MECP2	NEXMIF	ALDH4A1	KCNB1	CLTC	OGDHL	SON	MICU1	STRADA	STXBP1	TIMM50	GRIN2D	KCNC2	TSC2	KCNMA1	ATP6V1A	CLN6	BSCL2	CDKN1A	CARS1	MEN1	NDUFA6	GABBR2	ATP1A1	CYFIP2	CHD2	CELF2	UBA5	PIGS	DIS3L2	SLC1A2	TWNK	GRM7	HNRNPU	FZR1	PET100	UNC93B1	VARS1	PNPO	FIG4	NDUFA8
HP_ABNORMAL_BASAL_GANGLIA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BASAL_GANGLIA_MORPHOLOGY	MT-ND4	NDUFV2	ERCC6	NDUFA9	SLC20A2	TUBB2B	HTT	SAMHD1	NDE1	FA2H	GCDH	PDHA1	SNCA	SLC44A1	CPT2	PANK2	C19orf12	RNASEH2C	NANS	SPG11	MT-ND1	IDH1	CYP2U1	VPS41	RNU7-1	COQ8A	TIMM8A	NDUFS7	KCNQ2	AUH	MT-TT	MT-ND5	GBA1	CNTNAP1	IFIH1	GNA11	SUCLG1	GSX2	ETHE1	AIFM1	PNPT1	FAM111A	NDUFS4	NDUFA13	SDHA	NDUFS2	MT-TH	GLI3	MT-TL1	NDUFB8	SLC25A46	COX15	PDE10A	ZEB2	ADAR	ERCC4	GJA1	NDUFAF5	GLUD2	LSM11	ERCC8	MFF	NDUFA2	NUP62	FBXO7	FTL	VPS13A	TREM2	FDXR	XPR1	PDGFB	SNCAIP	NDUFA12	CP	MTFMT	RNASEH2B	TBCE	POLR3A	NDUFAF2	NEK1	NR4A2	GTPBP2	PDGFRB	SLC19A3	PSMB8	GFAP	FOXRED1	TACO1	SCO2	GNAS	VPS16	NDUFAF6	GLB1	ATXN3	TREX1	CASR	KIAA0586	GFM1	RFT1	MT-ND6	SNORD118	NADK2	MT-ATP6	CSPP1	NDUFA10	LRRK2	ATXN2	SLC46A1	CA2	TUBB3	LRPPRC	MECR	MRM2	ATR	ALG2	MT-TS2	IMPDH2	FOXP2	PSMG2	NDUFS3	MMUT	MT-TQ	GTPBP3	NDUFA4	ATXN8OS	DLAT	TUBB	MT-ND2	EIF2AK2	NDUFS1	TBP	ADH1C	NUDT2	LIPT1	RNASEH2A	COASY	HSD17B10	TUBA1A	MT-CO1	VRK1	RANBP2	NDUFV1	CLPB	MYORG	CYB5A	FASTKD2	ISG15	AP1S2	SURF1	SYT1	GCH1	NDUFAF3	HTRA1	FARS2	MAPT	ASPA	MT-TV	NDUFS8	MT-TK	GATA3	PRNP	CYB5R3	LONP1	PET100	TK2	MICU1	JAM2	SLC30A10	PRKN	JPH3	CYP27A1	COQ2	MT-CO2	KMT2B	POLR2A	MT-TW	OPHN1	DNM1L	SLC2A3	ATP13A2	OPA1	TBCK	BSCL2	MT-TF	HIBCH	PDSS2	MT-ND3	ERCC3	WDR45	PDHX	DCX	ECHS1	TYROBP	SUCLA2	MT-CO3	PLA2G6	ACVR1	DNAJC19	PDE8B	VPS11
HP_BASAL_GANGLIA_CALCIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BASAL_GANGLIA_CALCIFICATION	MT-ND4	ERCC6	GNAS	MT-ND5	SLC20A2	JAM2	SAMHD1	PDGFRB	PSMB8	MT-CO2	PDGFB	ERCC8	DNM1L	CYP2U1	MT-CO1	OPA1	TREX1	RNASEH2B	CASR	MT-TF	SNORD118	IFIH1	GNA11	FAM111A	RNU7-1	ERCC3	MT-ND6	SLC46A1	MYORG	CA2	MT-TH	MT-TL1	ISG15	SLC25A46	ERCC4	GJA1	TYROBP	MT-TS2	LSM11	MT-CO3	PSMG2	TREM2	XPR1	MT-TW	ACVR1	MT-TQ	GATA3	MT-ND1
HP_BROAD_BASED_GAIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_BASED_GAIT	UBE3A	GBA2	PPM1D	DLAT	VLDLR	SPTBN1	CAMTA1	ACTL6B	CUL4B	SNRPN	ATCAY	SRCAP	CCDC88C	GNB2	NBEA	XRCC4	EGR2	MPZ	UROC1	SGCG	TKFC	PIGL	DDX3X	TMEM222	RNF113A	AP5Z1	SGCB	CDK10	HACE1	KCND3	WDR26	PEX5	PRX	TBC1D23	ZEB2	DNAJC12	RAI1	TPP1	PURA	CAD	CERT1	GPT2	SNX14	TRMT10A	PRDM13	TOP3A	GALC	CHD3	GTF2E2	SATB2	RNU12	WASF1	SLC6A8	COQ2	GTPBP2	PIEZO2	NSUN2	PPP1R15B	MYOT	OCA2	ITPR1	TBP	NRXN1	CLTC	FNIP1	MECP2	DYRK1A	TRAPPC6B	SIM1	MAN1B1	MPV17	TRIM2	YWHAG	RLIM	CARS1	TMEM106B	TWNK	POLG	PACS2	TRPV4	ADGRG1	VCP	CWF19L1	THRA	EBF3	ATP10A	DEAF1	MED12	PMP22	COPB2	MTTP	ZSWIM6	COL9A2	NKX2-1	BCORL1	MAP1B	BICD2	SMS	PLP1	RBM10	FLVCR1	SHANK3	EXT2	GBA1	KMT2A	HTT
HP_SUBARACHNOID_HEMORRHAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBARACHNOID_HEMORRHAGE	HEY2	TGFB3	ACVRL1	ITGA2B	ITGB3	PRKG1	LOX	SMAD2	MAT2A	GAA	FOXE3	RASA1	ENG	GDF2	F10	FBN1	SMAD3	ITGA2	MYLK	DOCK8	TGFBR1	SMAD4	THSD1	MFAP5	TGFB2	TGFBR3	GP1BA	CD109	ELN	ANGPTL6	TGFBR2	COL3A1	GP1BB	ACTA2	MYH11
HP_ARRHINENCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARRHINENCEPHALY	CPLANE1	FANCB	TBC1D24	VANGL1	FUZ	SEC24C	GLI3	GP1BB	ARVCF	CHD7	KIF7	JMJD1C	RNASEH2A	FIG4	TCTN3	HYLS1	RREB1	ATP6V1B2	HIRA	RNASEH2C	TBX1	KIF14	TREX1	LSM11	RNU7-1	IFIH1	VAC14	COMT	UFD1	SAMHD1	ADAR	RNASEH2B	SMOC1	SF3B4
HP_ISCHEMIC_STROKE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ISCHEMIC_STROKE	SCN5A	HEY2	TGFB3	ACVRL1	SLC2A10	PRKG1	NOTCH3	GUCY1A1	LOX	SMAD2	MAT2A	HTRA1	SMARCAL1	FOXE3	COLGALT1	FBN1	SON	JAK2	MYLK	NPPA	PIK3C2A	TGFBR1	GNB2	ADA2	COL4A1	MFAP5	TGFB2	ELN	ENG	SMAD4	TGFBR2	BRCC3	ACTA2	SMAD3	MYH11
HP_GAIT_IMBALANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GAIT_IMBALANCE	UBE3A	DNAJC30	PODXL	BCL7B	FXN	MLXIPL	ATL3	VPS37D	NCF1	HTT	SETX	PIGG	ERLIN2	SPTLC2	ALS2	PMP22	EIF4H	OCA2	ATXN1	SNCA	GTF2IRD2	LIMK1	TELO2	ATP5F1D	SLC2A3	FKBP6	MAPT	PRKN	PIK3R5	TTBK2	METTL27	RFC2	HTRA2	UCHL1	ELN	TBL2	TMEM270	PTEN	ARL6	VCP	HK1	GTF2I	PARK7	LRRK2	RNASEH1	GTF2IRD1	PUS3	BCAS3	ATXN10	DEAF1	KAT6A	RRM2B	BUD23	CLIP2	CHD4	BBS1	FLNC	TAF1	DNAJC6	SPTLC1	GALT	SPEN	PINK1	VPS13C	SYNJ1	STX1A	BAZ1B	ADGRG1	ATL1	CCDC28B
HP_ABNORMALITY_OF_THE_SPINAL_CORD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_SPINAL_CORD	ZFTA	PRPS1	PNPLA6	SLC33A1	FXN	CHRNG	ARSB	SPG7	FANCB	VPS37D	IL11RA	PI4KA	CUL7	HAAO	ARSL	HES7	FOXE3	UBE2T	FUZ	B3GALT6	TBXT	MFN2	IDS	FOXE1	FBN1	FLNA	ZIC1	MEOX1	DNAJC3	SPG11	MINPP1	PAX3	HABP2	MEG3	NEFL	B4GAT1	RTN2	EXTL3	SALL4	TGFB2	GNPTAB	SETX	CTBP1	METTL27	EXT1	TBX1	ACTA2	NSD2	MTRR	COL18A1	HFE	ARID1B	POLG	MNX1	SETD2	GP1BB	FGFRL1	MAT2A	SLC26A2	RORA	VANGL1	LIG4	IDUA	GTF2IRD1	LZTR1	RREB1	MBTPS2	DKK1	BMP2	CPLX1	HMX1	GDF6	BMS1	PALB2	UBA2	CREBBP	PLEC	MMACHC	BCL7B	MLXIPL	KPNA3	SMAD3	BRCA2	NOTCH3	LOX	NCF1	CHN1	MASP1	APP	MTR	MYH3	LETM1	ABCD1	TGFBR1	LMX1B	GLRX5	PTPN11	FA2H	GNAS	COLEC11	B2M	ATXN2	ATXN3	FKBP6	MTHFD1	RAD51C	NMNAT1	ARPC4	RFC2	APC	KDM1A	RUNX2	FANCD2	RECQL4	NF2	TBL2	PTCH1	KRIT1	FLVCR1	HEY2	PORCN	TRPV4	NEPRO	ABCA1	MAD2L2	SMAD2	RAF1	DDHD2	GTF2I	FANCA	RASA1	CYP7B1	FANCI	HBB	SUFU	PIGG	ACY1	TRIM36	CCBE1	LMNB1	ATP6V1B2	DNA2	SMARCB1	CLIP2	ZMYM2	BRIP1	MPO	SUPT16H	EXT2	PHGDH	GDF3	NELFA	MESP2	RFWD3	MAFB	XRCC2	ENG	TGFBR2	STX1A	DARS1	NRAS	DNAJC30	GJB2	SOX9	TBC1D24	PTCH2	NSUN2	SH2B1	DLL3	TBX6	TLR7	FOXF1	NAXE	DLL4	NOS3	MORC2	MYLK	PRMT7	HIRA	RAB23	CCM2	COLEC10	HMGA2	PDCD10	TNFRSF11A	GLB1	CTNNB1	SALL1	NEK9	RBM8A	BRCA1	ACVRL1	DLK1	DACT1	FLI1	ARVCF	ITGB4	PUF60	MTHFR	MFAP5	FANCF	FOXC2	RAI1	CCL2	RRM2B	BUD23	NFIX	AKT1	NFIA	TWNK	CDK13	ATXN1	KIF22	CCT5	SMAD4	COMT	BAZ1B	PLP1	PHEX	RMRP	ELN	DARS2	ACTB	COMP	TGFB3	ALDH18A1	FLNB	CCND1	TNXB	POLA1	GTF2E2	PSAT1	EP300	COL2A1	SEC24C	TRAF7	FAR1	GCLC	NOTCH2	CYP27A1	UBAP1	NF1	FANCM	MAN2B1	FBLN1	WASHC5	SLX4	KANSL1	EIF4H	B3GLCT	LEMD3	GTF2IRD2	LIMK1	ERCC4	FANCL	MAP3K7	PLAU	TRAPPC14	PIK3CA	RTL1	TDP1	RELA	BTD	BRAF	LFNG	MYH11	TMEM270	DDR2	KCNH1	PRKG1	LYST	GFAP	JMJD1C	RIPPLY2	RNASEH1	GALNS	NOTCH2NLC	FANCE	IRF6	FANCG	HNRNPH1	VHL	VANGL2	CCNQ	SLC25A19	AMER1	SNRPB	GJB1	APOE	RAD51	FIBP	HRAS	UFD1	FANCC	KIF1B	WBP11	IKBKG
HP_FRONTOTEMPORAL_DEMENTIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRONTOTEMPORAL_DEMENTIA	TUBA4A	VCP	PSEN2	CHMP2B	GRN	CYLD	FUS	SORL1	TBK1	HNRNPA2B1	PLA2G6	TARDBP	MAPT	TOMM40	C9orf72	ZFYVE26	PRKAR1B	DCTN1	ABCA7	PSEN1	CCNF	APP	CHCHD10	SQSTM1	TREM2	TMEM106B	HNRNPA1	TIA1	UBQLN2
HP_HYPOPHOSPHATEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPHOSPHATEMIA	VDR	OCRL	CDC73	ALDOB	NDUFAF6	ABCC6	CYP3A4	CYP27B1	SLC34A1	TNFSF11	PTH1R	FAH	POLRMT	FAM20C	FGF23	NAB2	SNX10	ENPP1	STAT6	CLCN5	GCM2	CTNS	GATM	PHEX	NRAS	MEN1	SLC2A2	HNF4A	FAM111A	INPPL1	DMP1	GNAS	KRAS	EHHADH	KCNJ18	CACNA1S	TCIRG1	COL4A3	CASR	SLC34A3	CYP2R1	CLCN7	HRAS	SLC9A3R1	AP2S1	GABRA3
HP_HYPERURICEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERURICEMIA	LMAN1	ALDOB	HPRT1	SH2B1	ALMS1	MUC1	MYC	SLC37A4	UMOD	HMGCL	PFKM	TNFRSF11A	MCFD2	TNFRSF11B	PHKA2	CLDN16	PYGM	SEC61A1	ACAT1	HNF1B	PPARG	PRPS1	FBP1	SARS2	PHKB	G6PC1	REN
HP_INCREASED_SERUM_LACTATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_SERUM_LACTATE	CYC1	MT-ND4	NDUFV2	COX5A	NDUFA9	MT-TF	WARS2	YARS1	FBXL4	ACAD9	HS6ST2	UQCRB	PC	POLRMT	PDHA1	CARS2	NDUFV1	PDSS1	SERAC1	TK2	MT-ND1	TRMT10C	COQ8A	NDUFS7	NARS2	MIPEP	MT-ND5	ATPAF2	AIFM1	COX6B1	TWNK	RRM2B	PNPT1	ADAMTS13	POLG	NDUFA13	SDHA	NDUFS2	MT-TH	AGK	MT-TL1	TIMM22	HMGCL	NDUFB8	NDUFS8	UQCRC2	SCO1	COX15	LETM1	KARS1	DNM1L	LIPT2	AARS2	NDUFA2	BCS1L	MT-TN	UQCRQ	SOD1	NDUFA12	MTFMT	GFM2	LRPPRC	MRPS28	NDUFAF2	RARS2	NDUFC2	TMEM70	PMPCB	ECHS1	SFXN4	SLC25A10	GYS2	FDX2	UPB1	NDUFAF4	EARS2	FOXRED1	COX6A2	GTPBP3	RMND1	MT-TK	SCO2	NDUFAF6	GFM1	ATAD3A	NSUN3	MRPS16	MT-ND6	POLG2	MT-ATP6	NDUFA10	DLD	MECP2	RNASEH1	SLC25A12	PET117	MT-TS2	MPC1	ISCA1	NDUFA1	SLC25A26	MRPS7	CA5A	NDUFS3	TARS2	TXN2	MT-TQ	PRORP	MT-TI	NDUFA11	TIMM50	NDUFAF1	SDHB	NDUFA4	PUS1	SYNJ1	SLC25A4	MT-ND2	TANGO2	RARS1	NGLY1	NDUFS1	NAXE	HTRA2	C1QBP	LIPT1	TSFM	DTYMK	ISCU	STAT2	COX20	HSD17B10	ACAT2	MT-CO1	MRPS22	COQ9	TACO1	PNPLA8	MTO1	TRMT5	CLPB	ALDH6A1	SUCLG1	COX10	CHCHD10	GOT2	MT-TL2	FASTKD2	MRPL12	PDSS2	MRPL44	SLC19A3	MT-TP	SURF1	NDUFAF3	TPK1	UQCC2	FARS2	NFS1	MT-TV	SLC25A3	PPCS	MRPL3	MTRFR	DARS2	LONP1	PET100	TUFM	COX14	MICOS13	CYP27A1	COQ2	MT-CO2	UQCC3	TTC26	MT-TW	DGUOK	HPDL	MDH2	HIBCH	NFU1	MT-ND3	COX8A	SLC7A7	OCRL	PITRM1	PDHX	PHKG2	COQ4	MRPS34	MRPS2	NDUFA6	YARS2	UQCRH	LDHA	PLPBP	COX4I1	LIAS	PYGL	PDP1	NDUFS4	ACAT1	OGDH	SLC25A42	MT-CO3	NDUFAF5	TMEM126B	NDUFB9	TRMU	PNPO	LYRM7	MRPS14	NAXD	DNAJC19	NDUFA8
HP_HYPERKALEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERKALEMIA	SAMD9	PAX2	SCN4A	WNK4	CYP11A1	ALDOA	CA12	NR3C2	SLC2A1	CUL3	PBX1	WNK1	CYP11B2	MC2R	KCNJ18	CACNA1S	LPIN1	NNT	SCNN1G	RYR1	SCNN1A	SLC30A9	SCNN1B	STAR	TXNRD2	ABCB6	MT-CO3	KLHL3	HSD3B2	POR	MRAP	MT-CO1	INVS	GABRA3
HP_HYPERTRIGLYCERIDEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTRIGLYCERIDEMIA	PIK3CG	UNC13D	PSMB10	CIDEC	LCAT	ALMS1	YARS1	TMEM43	MC4R	CREB3L3	DEAF1	LMNA	STXBP2	SGPL1	LIPA	FOS	PRF1	PHKA2	BSCL2	SLC29A3	AGL	CAV1	SLC25A13	EMD	AEBP1	HAVCR2	SYNE2	ABCA1	RSPO1	SMPD1	CELA2A	POLD1	APOE	FHL1	NSMCE2	GK	ADCY3	PNPLA2	XRCC4	APOC2	SLC2A2	PSMB9	APOA5	STX11	RAI1	LIPC	FECH	SYNE1	JAG1	SLC7A7	POLR3A	PLIN1	AKT2	XIAP	LMF1	MTX2	AGPAT2	LIPE	PSMB8	WRN	IQSEC2	PIGT	LEPR	PSMB4	PPARG	DEF6	MCM10	FLII	PIGH	ABHD5	TTPA	PYGL	LPL	GPD1	PHKG2	PLVAP	LYST	SLC37A4	FARSA	PHKB	LDLRAP1	LEP	CEP19	DYRK1B	CAVIN1	LRP6	GPIHBP1	CYP7A1
HP_HOMOCYSTINURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HOMOCYSTINURIA	MTRR	PRDX1	CBS	MMADHC	MTR	LMBRD1	ABCD4	MTHFR	HCFC1	MMACHC
HP_HEPARAN_SULFATE_EXCRETION_IN_URINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPARAN_SULFATE_EXCRETION_IN_URINE	IDUA	NGLY1	IDS	HGSNAT	NAGLU	VPS33A	GUSB	GNS	SGSH
HP_LOW_POSTERIOR_HAIRLINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_POSTERIOR_HAIRLINE	BRD4	RAD21	CHRNG	LETM1	CPLX1	KDM4B	TMCO1	SHOC2	NIPBL	FOS	GNE	ZNF699	NRAS	MEOX1	NANS	BRAF	ABCC9	WASHC5	PTPN11	KRAS	CBL	SALL4	INTU	CTBP1	RRAS2	NSD2	ARHGEF2	MBD5	PGAP1	SPRED2	ALG12	MYO18B	EDEM3	VPS51	SOS2	HDAC8	H3-3A	ALDOA	NOTCH3	ACTB	MADD	FGFRL1	CHST3	EFNB1	PHF8	SMC3	KCNJ8	SPRED1	XYLT2	RRAS	MRAS	GDF6	SMC1A	RIT1	CDK13	CCDC22	RASA2	VPS33A	SLC25A24	MAP2K2	MAPK1	ACTG1	IRX5	RAF1	MAP2K1	PPP1CB	CREBBP	RAB3GAP1	RAB3GAP2	LZTR1	EP300	CHN1	UBE2A	ANKRD11	PPARG	HUWE1	KNSTRN	APC	PIK3CD	BSCL2	IGF1	SCNM1	NF1	TBX15	SMARCA2	SRCAP	PIGG	SMARCD1	B3GAT3	MYH3	PIK3C2A	ALG9	AEBP1	RPS28	GDF3	CDH2	CAVIN1	TFAP2A	USB1	SOS1	CAV1	NFIX	NELFA	MAFB	AGPAT2	WBP11	CNOT3	SRY	PEPD
HP_NAIL_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NAIL_DYSPLASIA	CTSK	WNT7A	IL11RA	KRT83	GJB2	SLC39A4	TGM1	TP63	PEX7	NSD1	EDAR	POP1	CTBP1	ECE1	HOXC13	DVL3	FZD2	EVC	FOXN1	BMP4	CLEC7A	COL7A1	GLI3	WNT5A	FGFRL1	FAM111B	GJB6	EDA	MBTPS2	RECQL4	MMP1	ALG3	POC1A	BMP2	TAF1	GLI1	KRT1	KRT5	GTF2H5	TINF2	VEGFC	DPM1	IHH	TRPV3	FLNA	KRT81	FERMT1	H3-3B	DVL1	RPS6KA3	LRP4	FGFR3	SUZ12	NFKB2	TRAF3IP2	EXT2	MPLKIP	NECTIN1	LMX1B	FGF10	PIGV	EOGT	KRT14	HRAS	GTF2E2	IFT43	TRPS1	GJA1	GJC2	NTRK1	FHL1	DKC1	ATP2A2	RNU4ATAC	IL17F	ATP6V1B2	TERT	EVC2	TRRAP	TERC	FLT4	HHAT	ROR2	SATB2	SRY	ITGB4	KRT6B	PHYH	TBC1D24	KRT86	ERCC3	LETM1	CPLX1	SREBF1	IKBKG	SETBP1	TFAP2A	KRT17	EZH2	STXBP1	HPGD	KCTD1	LAMA3	INSR	PLEC	KRT6A	NSD2	SOX18	ABCA1	RNF13	TCF4	WNT10A	TARS1	KRT85	MSX1	ORC1	ATR	GPC3	PLCD1	FGFR2	CARS1	BHLHA9	EED	KRT16	ANTXR1	CTC1	SOST	EDARADD	WDR35	PRKACB	PRKACA	RIPK4	ERCC2	DYNC2LI1	RNF113A	GPC4	LAMC2	FZD6	PLOD3	IL17RA	SMARCD2	NXN	STIM1	RLIM	LPAR6	SIN3A	LAMB3	ARX	EFNB1	ANAPC1	PTDSS1	HLA-C	IL17RC	PORCN	SHANK3	POMP
HP_IMPAIRED_VIBRATION_SENSATION_IN_THE_LOWER_LIMBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_VIBRATION_SENSATION_IN_THE_LOWER_LIMBS	ALDH18A1	ATL1	FLRT1	GBA2	SLC33A1	KPNA3	FAR1	HSPD1	BSCL2	CPT1C	UBAP1	SCO2	WASHC5	ERLIN2	SAMD9L	VAMP1	PDYN	HINT1	XK	SPG11	ARSI	POLR3A	RTN2	KLHL9	MT-ATP6	KIF5A	WDR48	KLC2	NIPA1	HARS1	PEX6	TDP1	UCHL1	FLVCR1	SPG7	ABCD1	PDK3	CACNA1G	VCP	KCND3	SACS	AMPD2	B4GALNT1	PMP22	PRKCG	GCH1	IMPDH2	SPAST	SPTLC2	NR4A2	CYP7B1	REEP2	DARS2
HP_SCANNING_SPEECH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCANNING_SPEECH	TPP1	COQ2	ITPR1	CCDC88C	PAX6	ATXN10	PNPLA6	ATXN1	SACS	CP	PLP1	DAB1	TMEM240	SLC25A15
HP_CLONUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLONUS	AMPD2	HIKESHI	SLC33A1	SPART	TANGO2	SEPSECS	HTT	PI4KA	PC	AARS1	SPTBN1	SLC52A3	FA2H	SLC16A2	KCNT1	HTRA2	KIF1A	SAMD9L	MYL2	KIF5A	SMG9	PRUNE1	SLC44A1	DTYMK	SLC39A14	RAB18	REEP1	SPG11	CAV1	FKRP	RTN2	TIMM8A	NIPA1	SETX	SLC1A4	UCHL1	ATL1	SYNE1	SLC25A15	ANO10	ABCB7	TSEN2	MTRFR	MED17	TRAK1	ERLIN1	STUB1	NDUFS8	KLC2	OSTM1	KCNQ3	KDM1A	KCNQ2	PSAP	POU3F4	PIGT	SELENOI	SLC25A21	ALS2	UFC1	CCT5	SOD1	SPAST	VPS37A	GBA2	GFM2	RAB3GAP2	KPNA3	POMK	UBAP1	NDP	MICU1	ZFYVE27	KIF1C	RUSC2	TIMM50	ERLIN2	WASHC5	PLA2G6	ABCD1	SPTLC1	GALC	SLC6A9	FGF13	PRPS1	FUS	GMPPB	SLC2A3	PTS	CYP27A1	PEX16	ZFYVE26	POMGNT1	CARS1	OCRL	CD40LG	ADGRG1	EMILIN1	PIGP	CYP7B1	BRAT1	CAPN1	SIGMAR1	POMT2	ATP6AP2	LMNB1	USP8	VCP	PET100	POMT1
HP_INTRACRANIAL_HEMORRHAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRACRANIAL_HEMORRHAGE	VHL	F13A1	CYP11B1	SDHB	WIPF1	SMARCE1	PROS1	ACAD9	ADA2	SDHD	FGB	NDE1	GATA2	GCDH	GAA	FOXE3	ATP7A	FGG	ITGA2	MYLK	KRIT1	DOCK8	PIK3CA	TERT	TMEM127	IPO8	CST3	SMARCB1	F13B	MDH2	CCM2	DNM2	DNMT3A	PDCD10	F8	ABCC6	TGFB2	ERCC6	GNAQ	MAX	CFH	F7	RET	BRCC3	LMBRD1	ACTA2	CYP11B2	SAMD9	CYP26C1	ACVRL1	ITGA2B	APP	BAP1	MAT2A	SERPINF2	FH	SDHC	KCNJ5	FCGR2C	SLC25A11	GDF2	HELLPAR	EPAS1	SMO	FBN1	CPT2	SH2B3	FN1	MCFD2	ENG	ZMPSTE24	KIF1B	NFIA	SMAD4	THSD1	PMM2	COL4A1	F10	PDGFB	CD109	PCCB	DPAGT1	IVD	FLNA	GP1BB	ALPL	TGFB3	SPARC	MMACHC	COL4A2	CACNA1D	STT3A	ITGB3	NOTCH3	LOX	TRAF7	RNF168	SUFU	SMAD3	KANSL1	TGFBR1	ERCC8	AKT1	GBA1	DHPS	MFAP5	TGFBR3	FGA	CBS	ANGPTL6	SERPINE1	JAK2	SNORD118	WAS	LMNA	MYH11	LMAN1	HEY2	F2	NF1	LMOD2	GGCX	NF2	PRKG1	F5	CD46	CFI	SMAD2	SIN3A	RASA1	PCCA	USP18	IKBKG	PET100	PTEN	SDHA	MMUT	GP1BA	ELN	TGFBR2	COL3A1	STAT2	DLST	SDHAF2	CLCN2
HP_GLIOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLIOSIS	ATXN8OS	VPS35	ERCC6	SNCA	GDAP2	FUS	NGLY1	TBP	ADH1C	KCNT1	DTYMK	ETFA	TSEN54	AVP	CNTN2	GRN	MT-TT	L2HGDH	NARS2	VRK1	RANBP2	DNAJC13	TARDBP	GBA1	ATXN3	SQSTM1	EIF2B2	NR4A2	THOC2	NDUFS2	PIGA	NDUFB8	NDUFS8	PDHA1	SLC25A46	EIF2B3	EIF2B5	SURF1	AKT3	ADAR	GIGYF2	TLR3	NDUFAF3	GLUD2	ARX	FARS2	NUP62	FBXO7	MAPT	MTOR	BCS1L	LRRK2	SERPINI1	EIF4G1	SNCAIP	VCP	PRNP	POLG	LONP1	LRPPRC	PMPCA	KMT2C	HSD17B4	PRKN	LMNB1	CYP27A1	MAN2B1	TBK1	ETFDH	YY1	CSF1R	TBCD	SCO2	EIF2B1	C9orf72	DYRK1A	PIK3CA	TFG	AP4M1	PSEN1	EIF2B4	MT-ATP6	ATXN2	ETFB	PLA2G6	BRAT1	ATP6V1A	TYROBP	CHCHD10	MOCS1	EHMT1	HTT	ZNF335	KDM3B	MOCS2	PLP1	UBQLN2	NAXD	COX15	PAX2
HP_POSTURAL_INSTABILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTURAL_INSTABILITY	ATXN8OS	PNKP	ADAT3	PODXL	VPS35	SNCA	LCA5	SLC20A2	UCHL1	CACNB4	ABCC9	TBP	ADH1C	DNAJC6	MAPT	GIGYF2	TRPC3	ATP1A2	ATP1A3	COQ2	PRKAR1B	TUBG1	ERCC6	TIMM8A	MT-TT	CACNA1C	PRKN	SYNJ1	DNAJC13	HTRA2	GBA1	ENPP1	KCNC3	DDHD1	NR4A2	PLA2G6	KCND3	ATP13A2	NIPA2	ERCC4	GLUD2	GARS1	ERCC8	FBXO7	LRRK2	PINK1	EIF4G1	VPS13C	SNCAIP	SPATA7	CLN5	FAR1	RPE65	SLC30A10	ALDH18A1	NIPA1	ABCC6	COL4A1	POU3F3	PDGFB	OPHN1	CSF1R	CACNA1A	ERCC1	ATXN2	C19orf12	NF2	PDGFRB	LRAT	PRRT2	RUBCN	RFC1	EZH2	PARK7	TAF1	MME	CXCR4	PMP22	KCNA1	ATXN3	SDHA	RNASEH1	STUB1	ATN1	RAB39B	NPHP1	SPG7	SCN1A
HP_HYPOGLYCEMIC_SEIZURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOGLYCEMIC_SEIZURES	POMC	KCNJ11	INSR	TANGO2	MC2R	SLC37A4	AKT2	ABCC8	GCK	PCSK1	GLUD1	UCP2	STAR	HADH	POGZ	NNT	TXNRD2	SLC16A1	PROP1	TBX19	HNF1A	MRAP
HP_POSTURAL_TREMOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTURAL_TREMOR	ALDH18A1	MT-CYB	COL6A3	MPZ	ITPR1	CARS2	BSCL2	VAPB	OPA3	COQ2	MT-ND5	NR4A2	MT-ND2	GCH1	MFN2	KCND3	SETX	PLA2G6	FGF14	PARK7	POLR3B	PRDX3	POLR3A	MT-ND6	RILPL1	MT-ND4	ANO3	ATXN1	MT-CO3	ATP13A2	DNAJC30	ATXN2	TH	TUBB4A	PIK3R5	FMR1	MYBPC1	PMP22	UCHL1	MT-ATP6	PPP2R2B	MT-ND4L	CACNA1G	NOTCH2NLC	TPP1	PIGA	TSPOAP1	NDUFS2	PRKRA	FUS	TMEM240	LMNB1	STUB1	IMPDH2	MT-ND1	MT-CO1	TENM4	DRD3	NDRG1	GALT	CYP7B1	SCARB2	NIPA1	REEP2
HP_SPINAL_CORD_COMPRESSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPINAL_CORD_COMPRESSION	COMP	DDR2	FLNB	CCND1	CREBBP	TRPV4	NEPRO	COL2A1	SLC26A2	IDS	ARSL	B3GALT6	HBB	IDUA	FOXE1	RMRP	EXT2	DNA2	NFIX	MINPP1	AKT1	HABP2	GNAS	B2M	EXTL3	APC	KIF1B	PHEX	EXT1	EP300
HP_OPISTHOTONUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPISTHOTONUS	ASPA	TUFM	GRIK2	AASS	SETBP1	GLYCTK	NDE1	OPA1	CYB5R3	UGDH	CARS2	VPS53	SLC19A3	KCNC2	SPTLC1	POU3F3	PANK2	ALS2	DTYMK	GALC	SLC39A14	MCCC2	TSEN54	KCNJ6	SPG11	FUS	EXTL3	GRIN1	ALG11	MCCC1	PTS	CLPB	HPRT1	NFU1	CRLF1	TSEN2	FUZ	ADSL	SIGMAR1	PSAP	TOE1	MOCS1	GCDH	MOCS2	GBA1	TNR	PAFAH1B1	VPS50	NDUFA8
HP_NEURODEGENERATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEURODEGENERATION	IDUA	ERCC6	DLAT	MATR3	OPTN	NEK1	PCNA	TANGO2	CCNF	ERBB4	SPTBN1	IDS	HTT	ZBTB20	DCTN1	RNASEH2A	VAPB	PLA2G6	LYST	PFN1	PRNP	PON2	CFAP410	ANG	TBK1	UNC13A	C19orf12	SOD1	RNASEH2C	ATXN2	FA2H	FUS	NBN	HSD17B10	CSF1R	FIG4	RNU7-1	IFIH1	CHCHD10	SLC2A3	ATXN3	FOLR1	PPARGC1A	NARS2	PRPH	COASY	SAMHD1	UCHL1	ADAR	DAO	COQ2	ABCD1	TARDBP	AARS2	UBTF	GUSB	VCP	TTC19	GM2A	ANXA11	GLT8D1	UBQLN2	GALC	TREM2	PON3	PANK2	TREX1	NEFH	C9orf72	MAPT	LSM11	SQSTM1	WDR45	FTL	TAF15	GLE1	HNRNPA1	MFSD8	NAXD	EPHA4	PON1	RNASEH2B	TXN2	CHMP2B	PDE8B
HP_CEREBRAL_EDEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_EDEMA	TICAM1	PRRT2	SLC25A13	ASS1	TBK1	NDUFS4	CPSF3	BCKDHA	ACAD9	SMS	NAXE	ACADM	LAMA2	BCKDHB	COX16	ATP1A2	TRAF3	TLR3	DBT	CACNA1A	ASL	KCNQ2	CPS1	UNC93B1	RANBP2	NAXD	OTC	SCN1A	CPT2
HP_PHONOPHOBIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHONOPHOBIA	CREBBP	TMEM270	DNAJC30	BCL7B	MLXIPL	EP300	VPS37D	SLC1A3	ESR1	GTF2I	NCF1	EDNRA	SCN1A	GTF2IRD1	EIF4H	TNF	BUD23	CLIP2	GTF2IRD2	LIMK1	FKBP6	METTL27	RFC2	STX1A	BAZ1B	ELN	TBL2
HP_NEUROFIBRILLARY_TANGLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEUROFIBRILLARY_TANGLES	PRNP	HFE	TREM2	PSEN2	PLA2G6	PSEN1	ITM2B	CYLD	SORL1	APP	NOS3	TOMM40	NPC1	APOE	VPS13C	MAPT	MPO	PLAU	GRN	ABCA7	NPC2
HP_APRAXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APRAXIA	CEP290	PNKP	KATNIP	PLP1	TREM2	TUBB2B	ZIC2	TYROBP	STIL	FUS	FA2H	CDKL5	PLCH1	GRN	TGIF1	C9orf72	CC2D2A	PURA	CEP41	FOXG1	PIGY	NODAL	ATP13A2	PNPT1	XRCC4	TIMM8A	PDX1	PTCH1	PIGV	SYNJ1	AHI1	INPP5E	TDGF1	SIX3	MAPT	PIBF1	APP	TMEM231	ARMC9	MECP2	SLC25A15	ARL3	SRPX2	PLA2G6	CBY1	ZC4H2	MED13	CHD1	ATP1A3	TUBB4A	RORA	ITPR1	TMEM67	CEP120	CWF19L1	PI4KA	TMEM237	DLL1	TPP1	KDM1A	FOXH1	PDE6D	UBE3A	CSPP1	TMEM138	ARL13B	DLAT	GAS1	SNX14	GRIN2A	FGF8	VCP	SHH	APOE	RPGRIP1L	SETX	KIAA0753	SPG21	SLC6A8	GABBR2	NGLY1	CRKL	SLC2A1	ABCD1	TOMM40	HYLS1	TMEM218	TBP	TUBB3	PACS1	CLTC	ATXN2	KIAA0586	ARPC4	POU4F1	CPLANE1	PRNP	MKS1	PIK3R5	TTC19	BLTP1	GALK1	DISP1	IFT172	CEP104	FOXP1	EBF3	ATP6AP2	NHLRC1	B9D1	CDON	SMC1A	GPAA1	SLC30A9	SUFU	GLI2	PEX2	FOXP2	MRE11	NPHP1	RNF135	MAPK1	PSEN1	KDM6B	TMEM107	ATP1A2	GBA1	SLC1A3	EXOSC3	PRKAR1B	FGFR1	SH2B1	PSEN2	KCNJ11	ADGRG1	MYO9A	STAT3	BCR	CHMP2B	SRCAP	SOX3	DDOST	STAG2	ABCC8	CACNA1G	TOGARAM1	ABCA7	TARDBP	AFG3L2	B9D2	SQSTM1	GRID2	SMPD1	EPM2A	HTRA1	TMEM106B	TMEM216	TREX1	DNM1L	LAMA1	PANK2	TOE1	PGAP2	TUBA1A	UFC1	GCK	TCTN1	TNR	CHD3	SORL1	VPS11	APTX	TBK1	DMPK	NTNG1	RAI1	CACNA1A	USP7	KANSL1	H4C11	NKX2-1	CSF1R	PIGW	PGAP3	TCTN2	MAST1	FRRS1L	PIGO	PMPCA	INS	AARS2	KCNH1	IFT74	SPART	BRAF	NONO	SPR	TRAPPC11	STUB1	PTEN	CHCHD10	GALT	XRCC1	PIGL
HP_INTELLECTUAL_DISABILITY_PROFOUND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTELLECTUAL_DISABILITY_PROFOUND	ERCC6	RNF13	SYNJ1	SEPSECS	SLC16A2	CDKL5	ATP6V1E1	NACC1	POMGNT1	RNASEH2A	IER3IP1	VPS53	FKRP	RAB18	RNASEH2C	KCNJ6	DPM3	ASXL3	RNU7-1	OFD1	WDR45B	DPYD	FAR1	POMT2	ATIC	ELOVL4	ASXL1	ADAM22	ATP6V1A	PRUNE1	MECP2	RNF113A	TBC1D2B	PCDH12	TBC1D20	UBTF	SLC9A6	PUS3	ST3GAL3	SLC39A8	TRAPPC4	SMS	PDHA1	OCLN	ARV1	NUP133	LSM11	GRIN1	GUF1	PIGG	SCN8A	EXOSC5	RNASEH2B	NDE1	FH	SETBP1	CNPY3	LONP1	DMXL2	EMC1	IDS	CLIC2	STXBP1	HSPD1	NGLY1	WARS2	PCDH19	NSF	TBCD	SPTAN1	FKTN	PRPS1	NAPB	IFIH1	SCN1A	FGFR3	ATP6V0A2	TREX1	SAMHD1	ADAR	DPH5	UNC80	PIGU	POMT1	PIGP	AIMP2	PIK3R2	AP1S2	CCDC88A	GAD1	MED23	ZNHIT3	LARGE1	WASHC4	UGP2	SLC1A2	STRA6	VARS1	SETD1B	BUB1B	PAFAH1B1	P4HTM	CRPPA
HP_DELAYED_CNS_MYELINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_CNS_MYELINATION	WARS2	RNF13	NACC1	TRNT1	CLCN3	GLYCTK	TMEM147	AARS1	ITPA	HS2ST1	EIF2AK2	NGLY1	ATP1A3	DHX30	UGDH	GLS	FANCB	STXBP1	SLC6A1	MLYCD	PLPBP	GNB2	ALDH7A1	CACNA1I	BMP4	CHAMP1	H4C5	FBXO28	C18orf32	TRAPPC2L	PPIL1	CTNNB1	TKFC	FAR1	AP3D1	TRMT5	LMX1B	PGAP1	ALDH6A1	POGZ	ADAT3	SMG9	ELOVL4	CLCN7	PRUNE1	DOHH	RBM8A	TRIM8	ARID1B	PPP2R1A	MADD	FCSK	TIMM22	FOCAD	MORC2	ALG9	ALG14	TBC1D24	PHACTR1	ALG2	POLR3B	DNM1L	YY1	TMEM240	CDC40	ASH1L	FRMD5	LIPT2	NUP133	NRROS	ACTL6B	NCDN	CLPB	ADARB1	ALDH5A1	FANCL	TNPO2	BCS1L	PURA	VPS33A	NUP188	TNR	TMEM63A	KCNN2	ARX	NRCAM	PKDCC	LIPT1	SLC35A2	ZMIZ1	GRIK2	SETD1A	VPS11	SLC16A2	PEX7	AIFM1	UPB1	KCNC2	TAF2	POU3F3	TGFB1	POLR2A	NARS1	TAF13	ZC4H2	RERE	MDH2	DHX37	CLTC	KIDINS220	ARF1	ACY1	NMNAT1	KDM1A	EXOSC1	SLC1A4	EXOC8	RNU7-1	DDX6	GEMIN4	PIGU	NEUROD2	CARS1	TMEM106B	SMPD1	SPATA5	EZH2	ZNF526	RAB3GAP1	SIN3A	BRAT1	FOXP1	ATP6AP2	ALG13	FRMPD4	YRDC	COPB2	PIGS	CDK19	CUL3	CLTCL1	ZNF335	SLC1A2	MMUT	TRRAP	SLC12A5	D2HGDH	SHANK3	TXN2	ZNF148	CNOT3	PPP3CA	GTF2H5	AHDC1
HP_CHOROID_PLEXUS_CYST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOROID_PLEXUS_CYST	IFT43	SETBP1	FOXF1	ZSWIM6	ZBTB18	PHGDH	EXOC8	FH	NPHP3
HP_PROGRESSIVE_SPASTICITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_SPASTICITY	DEGS1	RPS6KA3	GM2A	SPTBN1	PLAA	GJC2	ATP13A2	ACP5	HSPD1	TAF8	GALC	PLP1	ARSA	SPG11	TBCD	GLRX5	ARG1	OPA1	ZSWIM6	MSL3	FA2H	NKX6-2	POLG	SELENOI	MECP2	PSAP	PLA2G6	CTNNB1	NADK2	PAFAH1B1	DARS2
HP_DELAYED_GROSS_MOTOR_DEVELOPMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_GROSS_MOTOR_DEVELOPMENT	WDR4	FKRP	CYP3A4	LRP4	YARS1	TRNT1	BMP1	ADCY5	HS6ST2	MTMR14	CDKL5	KIAA0753	HECW2	UGDH	DPM3	EP300	CYP2U1	SPG11	RTL1	EIF3F	EXTL3	GNPTAB	PLOD1	RYR1	FBXL3	CAMK2A	PGAP1	PLP1	DPYSL5	MEGF8	SPOP	CLCNKA	VPS51	TRIM8	SLC12A2	MED13	WDR26	GALE	MORC2	TET3	EIF2AK1	TAF8	MECP2	ZEB2	KAT6A	NCDN	CELF2	TAF1	FDXR	KDM5B	GRIN1	ZNF407	DSE	CHRND	HK1	MUSK	CREBBP	FLRT1	LMNB1	MYH7	KMT2C	PAK1	RUSC2	MECR	ADGRL1	YY1	FIG4	RALA	SPTLC1	CNKSR2	STAG2	MACF1	PPP2R5D	DDOST	MKS1	TCF20	FNIP1	HDAC4	UBE3A	NCAPG2	ASXL3	NMNAT1	TRIM2	KMT2A	HNRNPK	TMEM106B	CHKA	DMD	COL12A1	TRIO	BRPF1	TMTC3	EBF3	PIGO	SMARCD1	MPZ	CLP1	BCAS3	SMC1A	FRMPD4	TNFRSF11B	GRIA4	RUBCN	LARS1	SUPT16H	SLC37A4	CDH2	DYNC1H1	PTEN	TRRAP	KLHL15	DPF2	MID1	DAG1	MT-TE	LAMA2	ZNF148	ZBTB11	SDHB	REPS1	SNAP25	DLAT	SLC9A7	KDM4B	TMEM147	MYO9A	SLC16A2	DHX30	NUDT2	KMT2E	SPTBN4	GALNT2	TSEN15	TMEM63C	HERC2	CHAMP1	SYT1	ALG12	CWC27	CLPB	SELENON	KIDINS220	INPP5E	FASTKD2	SEMA6B	TTC5	CHST3	ERLIN2	MYT1L	GJC2	ADARB1	PI4KA	MFN2	PRMT7	CLCN3	CDK13	APC2	MAPK8IP3	MEG3	FTSJ1	TK2	MRPS25	SLC18A2	NDST1	SCN2A	CHRNB1	WASF1	YIF1B	PIEZO2	TIMM50	PIGC	FBLN1	PIGG	NTNG1	CHRNE	BSND	ATP6V1A	PGAP3	ALS2	XYLT1	RBL2	KIF14	HUWE1	MDH2	NFASC	ROBO3	SET	ATP6V0A1	PMPCA	COL13A1	TNNT1	LBR	LRRC32	CARS1	AHI1	POLR3K	PHKG2	SRCAP	DNM2	AMPD2	NONO	FOXP1	MAGEL2	SLC5A7	SIGMAR1	TRAPPC9	WASHC4	MCM3AP	EHMT1	SLC25A42	BCORL1	KDM3B	CHRNA1	FLVCR1	NDUFA12	TRMU	CNOT3	NDUFA8	P4HTM	SUCLA2	VPS35L	PNP	SLC25A1	COL1A1	LMNB2	RPL10	CFL2	KCNK4	LSS	SNRPN	HIVEP2	PHKA2	FOXG1	PLEC	TNRC6B	TBR1	MBD5	CLCN7	AGRN	SATB1	ARID1B	SYNE1	IQSEC1	SIK3	COL1A2	RORA	ITPR1	GLS	POLR3B	MINPP1	PAK3	SHMT2	SHOC2	AHDC1	NARS1	KDM1A	EXOC6B	SMARCA2	ABCA2	TMEM94	ARL13B	SNX14	AK9	MTPAP	BCL11B	TRAPPC10	CHMP1A	RBPJ	PCYT2	RNU12	CNTNAP2	KY	GRIA1	GABBR2	TTN	DOCK3	NGLY1	PNPLA2	FBXO11	RAB11B	ZC4H2	FITM2	HARS1	FUS	DLK1	GARS1	ATG7	TRAPPC6B	CPLX1	BRAT1	CLCNKB	COL2A1	NEUROD2	TGFB3	PACS2	PUS7	POMT2	OPHN1	POLR1C	TUBB3	TNPO3	ATP10A	DOK7	SLC25A12	NDUFA1	GAA	NPHP1	BIN1	MRAS	CRBN	KPTN	FKBP14	ALMS1	TANGO2	KAT8	ODC1	RAB3GAP1	ACTN2	PPP2CA	KARS1	NBEA	TTI2	KLC2	CACNA1C	SETD5	TMEM222	POMK	SLC6A3	CCDC134	DOLK	H3-3A	AP3B2	PPP2R1A	SMPD1	COG1	SCN4A	NUBPL	PRIM1	CDC40	RAI1	TRMT1	NFIX	SELENOI	NEXMIF	ATG5	TMEM63A	CUBN	MEF2C	MBOAT7	RAB3GAP2	CHD3	CLDN11	GRIK2	SON	CHST14	UBE2A	MYF6	DPH2	CADM3	GRIN2B	POLR2A	MESD	OTUD6B	HYCC1	DYNC1I2	PHEX	MSL3	CASK	SLC39A8	DHPS	NAA10	AMN	RAPSN	DNASE2	COL3A1	COPB1	WLS	TRIT1	ATP1A1	GALNS	PHKB	LRP5	TFG	GNAI1	JAG1	CUL3	FGF3	ZSWIM6	OGDH	LARGE1	HOXA1	FAR1	MRPS14	CSNK2B	DNAJC19	CTNNB1	PAFAH1B1
HP_DYSGENESIS_OF_THE_CEREBELLAR_VERMIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSGENESIS_OF_THE_CEREBELLAR_VERMIS	TMEM216	CSPP1	ODC1	KIAA0753	KIAA0586	RAC1	INPP5E
HP_MYELOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYELOPATHY	DKK1	ARSB	EXT2	GLB1	GNPTAB	CYP27A1	NAXE	RASA1	GALNS	BTD	COL2A1	NMNAT1	EXT1	NF2	ABCD1
HP_GENERALIZED_ONSET_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_ONSET_SEIZURE	SCN2A	SCN1A	TSEN2	GABRA3	KCNMA1	SZT2	YARS1	SPATA5	TREX1	CDKL5	GPT2	DPM3	PURA	CACNB4	ALDH7A1	MT-ND1	RNU4ATAC	FBXO28	SETD2	EXTL3	PDX1	KCNQ2	CAMK2A	STX1B	PGAP1	SPATA5L1	MEGF8	ELOVL4	SLC25A15	TRIM8	EPM2A	GLB1	SLC35A3	SCN9A	PCDH12	MED13	ASAH1	YEATS2	ZEB2	KCNQ3	ALDH5A1	GABRD	SYNGAP1	GRIN1	MFSD8	GDI1	ZBTB18	MT-TK	ADGRG1	FGFR3	AP2M1	SATB2	GRIN2A	CARS2	GAMT	GBA1	PRRT2	GABRA5	GABRB3	KCNB1	LGI1	KCTD7	GALC	GABRA1	XK	TSEN54	PIGQ	KNSTRN	SLC12A5	EHMT1	DMXL2	MT-ND6	HNRNPK	GTF2E2	APC2	MT-ATP6	EFHC1	CTNND2	MT-TQ	WAC	GNB1	MT-TL1	SMC1A	GATAD2B	GOSR2	CPLX1	AIFM1	RELN	MECP2	SIK1	SETD1B	MT-TI	SCN1B	VPS50	DPM2	SLC25A22	GPAA1	CIC	COG2	CAMTA1	SLC38A3	ADRA2B	CHD2	SLC6A1	CACNA1H	DEPDC5	TBC1D24	GRM7	PCDH19	AFG3L2	GABRG2	DOHH	PTEN	DHFR	SLC9A6	NSD1	SMS	MAPK10	JRK	SLC6A19	MARCHF6	TSEN34	MYT1L	PSAP	PTRH2	CLPB	MT-TV	PIGT	CDK13	TK2	CACNA1A	MAPK8IP3	TUBA1A	ALDH4A1	SCN8A	MT-TH	HCN1	SDHAF1	NTNG1	CASK	SON	KCNC2	WDR26	SLC2A1	NAA10	MDH2	GJA8	YWHAG	COX8A	NFKB2	HYMAI	PRICKLE1	EZH2	SDHD	PIGP	TMX2	MT-TP	PIGM	ACSF3	HNRNPU	SLC1A2	TRAPPC9	PIK3CD	PPP3CA	PHGDH	MT-TF	PLP1	TUBB2B	UBE3A	AFF3	CILK1	PLPBP	NECAP1	MT-ND5	GRN	SATB1	ANO10	MTOR	NDE1	WDR62	EEF1A2	PAK3	OSTM1	PMM2	DNM1L	NARS1	DNM1	GNAO1	FTL	GTF2H5	SAMD12	PIDD1	SCARB2	MAPK1	DPAGT1	CLN5	PCYT2	RARS2	SEC31A	NEXMIF	GPHN	GABBR2	NGLY1	LAMA2	MPLKIP	TBCD	TUBB3	KCNT2	ARX	NEU1	DYRK1A	MT-RNR1	ADGRV1	SLC1A4	HACE1	PPFIBP1	NHLRC1	MT-ND4	CUX2	BRAT1	KIF4A	SLC25A12	CNTNAP2	PLAA	NDUFA1	CLCN2	CNTN2	NUS1	PRORP	MT-TS2	KCNA1	RORB	ERCC3	ALMS1	MT-ND2	KCNJ11	PLAGL1	TANGO2	STAT3	ATP1A3	CSTB	IER3IP1	COQ5	VPS53	KPTN	KARS1	NBEA	DOCK7	ABCC8	SDHB	TSEN15	TARS1	SMARCA2	SMPD1	CLCN4	RPL10	HCN2	ARHGEF9	ECM1	NUBPL	ATXN10	CARS1	DHDDS	SETBP1	SRPX2	NTRK2	GCK	DPM1	MBOAT7	OGDHL	LNPK	ERCC2	RNF113A	GJA5	STXBP1	KANSL1	SDHA	MT-TW	OPHN1	PIGA	FRRS1L	BTD	MT-ND3	EXOC8	ATAD3A	COL3A1	INS	TRIT1	TRMT10A	ATP1A1	NEUROD2	CEP85L	DCX	KCNJ10	GAD1	CLN8	GNAI1	ADPRS	PRDM8	GLUD1	FAR1	SEPSECS	BUB1B	PAFAH1B1	MTHFR	PNKP
HP_DILATED_FOURTH_VENTRICLE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DILATED_FOURTH_VENTRICLE	PIGN	SEMA3E	AFF3	RPGRIP1	TXNDC15	MYOD1	HYLS1	B9D2	ZIC1	TCTN2	SMARCB1	CSF1R	DYNC2I1	WASHC5	B4GAT1	TUBG1	PLCH1	SMARCE1	TMEM107	CRPPA	PLG	FAR1	FKRP	WDR35	FLVCR2	DPYSL5	SMG9	DPH1	ASXL1	ATP6V1A	VPS51	RNF113A	ARID1B	SMARCA4	GJB2	CPT2	TMEM67	BUB1B	TMEM231	GRM1	PMM2	POMK	EBP	IFT80	TMEM138	DAG1	TCTN1	MUSK	NPHP3	TUBA1A	KRAS	CDC42	POMT1	DYNC2H1	MAPKAPK5	TRIP13	CEP290	GTPBP2	NIPA1	WARS2	NUP88	DHCR7	POMT2	ATP6V0A2	MKS1	GMPPB	ATXN2	C2CD3	ATXN3	TMEM237	KIF7	KIAA0586	TMEM216	RAC1	LARGE1	POMGNT1	CSPP1	ARID1A	IGF2	POLR3A	WDR73	ALG3	BLTP1	ARMC9	COL4A1	DYNC2I2	B9D1	ATP6V1B2	WDR81	POMGNT2	SMARCC2	EVC2	MRE11	PHGDH	FGFR1	TUBB	CEP120	KCNQ1	EVC	SMARCD1	MID1	GLI3	RXYLT1	PPP1CB	FTO	NRAS	TBC1D24	BUB3	CEP57	B4GALT1	ATP6V1E1	DENND5A	CHD7	COX20	TCTN3	SLC35A2	CDKN1C	SOX4	B3GALNT2	OFD1	EXOC2	AP1S2	GPC3	LAMA1	NIPA2	CCDC22	ATXN1	MTM1	GJB6	MEF2C	FKTN	ARID2	DOK7	GPC4	BCOR	USP9X	HRAS	CASK	DPF2	SLC18A3	PMPCA	SOX11	WLS	ESCO2	MAB21L1	PIEZO2	RAPSN	CC2D2A	KCNQ1OT1	BUB1	RPGRIP1L
HP_HYPOCALCEMIC_SEIZURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOCALCEMIC_SEIZURES	STX16	PTH	FAM111A	GNAS	TBCE	CYP27B1	GATA3	TNFRSF11A	GCM2	VDR	CYP2R1
HP_PSEUDOBULBAR_SIGNS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSEUDOBULBAR_SIGNS	DNMT1	DCTN1	SEC31A	ALS2	SPG7	ADSS1	HMBS	ADGRG1	HTRA1	GM2A	LMNB1	RARS1	SRPX2	NEFH	NONO	B4GALNT1	FBLN1	PUS3	FIG4	ERLIN2	PI4KA	ASPA	ACTB	ZFYVE26	PRPH	NOTCH3	ALDH18A1	TGM6	SOD1	CYP27A1	AP4M1
HP_PLEURAL_EFFUSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PLEURAL_EFFUSION	DNASE1L3	MAP2K1	FSHR	RASA1	BCL2	CCND1	NR1H4	GPR35	PRSS2	BTNL2	BAP1	MST1	STAT4	IRAK1	GAA	FOXF1	PIEZO1	IL10	SPINK1	CCR1	RIT1	CTRC	EPHB4	PRSS1	HLA-B	IFNGR1	MEFV	TLR4	CYBC1	CCBE1	CAV1	ADAMTS3	DEF6	PTPN11	FAT4	TSC1	HLA-DRB1	CALCRL	C4A	CFH	KIF11	ZNFX1	MIF	KLRC4	SPP1	TSC2	IL12A	IL6	VPS51	PLVAP	SEMA4D	CYBB	IL23R	CBL	BCL6	BRAF	LYST	CD46	BLTP1	CFI	MYD88	SOX18	LACC1	IFIH1	HELLPAR	TAPT1	ALG14	UBAC2	TCF4	HFE	CFTR	FOXC2	USP18	ITK	LZTR1	PRKAG2	IL12A-AS1	EIF2AK4	FAS	ERAP1	BMP2
HP_RESPIRATORY_PARALYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESPIRATORY_PARALYSIS	PPOX	HMBS	KCNJ18	CACNA1S	CPOX	SCN4A	ALAD	KCNE3	GABRA3
HP_PULMONARY_EMBOLISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_EMBOLISM	STAT4	AKT1	SERPINC1	MMACHC	IL23R	PROS1	GNAQ	KCNJ5	PROC	MEFV	PTEN	THBD	PIGA	ENG	CD55	GDF2	IL10	CCR1	MPL	TET2	AGGF1	PLP1	UBAC2	F13A1	MTHFR	HLA-B	IFNGR1	F2	SMAD4	TLR4	C4A	IL12A-AS1	JAK2	CBS	F8	KLRC4	FAS	IL12A	ERAP1	ACVRL1	HABP2
HP_RECURRENT_RESPIRATORY_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_RESPIRATORY_INFECTIONS	FOXP3	MGP	ARSB	VPS37D	CTCF	SERPINA1	LTBP4	PURA	RSPH3	KCNJ6	SLC41A1	SMARCB1	TERT	ADAMTS3	EHMT1	GNPTAB	LAMTOR2	FCHO1	AP3D1	IFIH1	CR2	NSD2	VPS51	HPS6	GAS8	NAGLU	TCTN3	RAC2	MESP2	MBTPS2	NFKB1	RFXANK	UNC119	ARID1B	VPS33A	COL6A2	DNAH1	PRPS1	MAGT1	CREBBP	ALMS1	REEP1	LMNB1	LRBA	GBA1	PRTN3	CFAP410	DNAI1	NFKB2	PIK3R1	CFAP221	LEPR	PGM3	MYL2	IL6ST	LYST	FKBP6	SCNN1B	XIAP	ZMYND10	FOXN1	RFXAP	RYR1	FOXP1	SULT2B1	CTSC	CD8A	KDM5C	IGBP1	CSPP1	ARID1A	MCIDAS	DYM	GAS2L2	EDNRA	TP73	ACP5	KIF1A	SLC11A1	CTNNBL1	WAC	SGSH	PET117	COL4A5	RSPH4A	USB1	CD19	SPI1	PNP	NDN	MIF	SDR9C7	LIPN	B3GALT6	CFAP298	CAVIN1	MYPN	TOM1	JAK3	IGKC	PIK3CD	DPM2	PCGF2	NUP214	MANBA	TNFSF11	SNORD115-1	SLC52A3	NGLY1	NCF1	CLPB	ADA	RFX5	OFD1	NBN	CHAMP1	FUCA1	TAPBP	MS4A1	CFTR	TNNT2	FCSK	SLC25A1	FLNA	ABCA12	TBC1D24	ZBTB24	ZAP70	FLNC	SLC26A9	FCN3	DNAAF1	SP110	UMPS	SELENON	TBX1	TNFRSF11A	IGHM	BAZ1B	ZNF341	CCDC22	BTK	NOTCH2	WDR1	EP300	SMPD1	RPGR	FLI1	EIF4H	IL17RA	TYK2	JAGN1	PAK2	SH2D1A	SCN10A	NXN	ITGA7	CARD10	DLL3	SOX11	TCF3	CCDC103	MAGEL2	TTC12	CCNO	TGFB1	FBXW7	ARHGEF1	ELP1	SYT2	PEPD	CXCR4	PKHD1	NKX2-1	MSN	PLCG2	PRKCD	SIM1	CCDC39	ASPRV1	CIITA	NCF4	COL6A1	P4HTM	ERCC6	DNAJB13	SNRPN	GATA2	SCNN1G	TRIP11	STAT1	MKRN3	IRF8	RAG1	MALT1	PLG	METTL27	HYOU1	SATB1	INPPL1	DCLRE1C	CD79A	CLCA4	CLEC7A	KATNIP	TONSL	PEX5	CD3E	COL11A2	RAG2	H4C3	TNFRSF13B	G6PC3	FBLN5	CPLX1	IL2RG	FOXJ1	SLC5A7	NME8	TPP2	GTF2H5	NME5	AP3B1	DNAH11	ODAD2	BCL7B	SLC46A1	PPP1R21	IDS	HLA-B	KIF20A	TRIP4	MYH3	MYSM1	CRKL	LAT	EFEMP2	ICOS	NEK10	HYDIN	NCF2	SPEF2	RAC1	COG6	KAT6B	TMCO1	ERF	TRPS1	IL10RB	NECTIN1	DNAAF2	PIGG	STX3	RNU4ATAC	TAOK1	SAMD9L	IL17F	HERC2	UGP2	SMARCC2	DNAAF5	TTC7A	MAPK1	DSG1	HGSNAT	ASAH1	CD3D	OCA2	ERCC3	ELN	TBX6	GAA	PCNT	BLNK	COLQ	SLC18A3	MYO5A	KPTN	TIMMDC1	WAS	SLC29A3	GLB1	SETBP1	TSC1	SLC1A4	SOX4	EGFR	CYBB	WASHC5	SLC35C1	SMN1	TAFAZZIN	COL4A6	CARS1	BUD23	NFIX	BIRC3	CD79B	SNAP25	RSPH1	PYROXD1	ALOXE3	SRP54	NIPAL4	CTLA4	TYMS	HMOX1	DOCK8	DNAH9	MYL9	RNF113A	TAP1	DNAAF11	CD27	KRT5	LAMB2	TPM3	UBE2A	RNF168	SCNN1A	DNAI2	STAT3	SASH3	TTC26	SMARCD2	ZNFX1	DPF2	ADA2	ARPC1B	WDR35	CD81	DDR2	CD40LG	USP9X	DNAAF3	IL2RA	IDUA	TCIRG1	GALNS	CD3G	TECPR2	TNFRSF1A	SLC37A4	IGLL1	ORC6	IL17RC	TNFSF12	CTBP1	ODAD1	COL5A1	PSAP	GUSB	MDM4	UBA2	WIPF1	AASS	IFT122	RASGRP1	POLA1	ARSL	DOCK2	IDH1	CYBC1	FBXO28	CHRM3	EXTL3	STK36	PLOD1	MTM1	DRC1	IFT140	LRRC56	TSC2	CFAP300	DZIP1L	ASXL1	C4B	CACNA1B	GLI3	SMARCA4	CCDC65	CD4	TBC1D23	ALOX12B	PARN	KAT6A	CD247	MASP2	EDARADD	ODAD3	CEACAM6	PHIP	FCGR2A	DNAH5	SH3KBP1	ALG12	SPAG1	MLXIPL	NDUFC2	SOCS1	TRAF3IP2	GCLC	ATP6V0A2	RSPH9	HLA-DPB1	IKZF1	AGA	KIAA0586	TPM2	TBCE	CTC1	GTF2E2	POLR3A	HFE	TGM1	NPM1	MDFIC	LCK	RUNX2	CLIP2	HACD1	FCGR3A	PRKDC	LEP	ZNHIT3	SMARCD1	ALB	ROR2	IL6R	TNNI3	COL6A3	SOX9	AICDA	SREBF1	SLC25A22	COL13A1	STXBP2	IL21R	PWRN1	SPTBN4	CARMIL2	MIR140	WRAP53	CASP8	CFI	PWAR1	KCNN4	GMNN	ODAD4	POLE	DNAAF6	CDCA7	EPG5	TASP1	CHAT	COG4	CLCN7	DYNC2I2	PTPN22	HELLS	MGAT2	TK2	MECP2	SLC6A14	SPINK5	RIPK1	ATM	SNX10	PKP1	CORO1A	NFASC	RNF125	SMARCE1	OCRL	SMARCA2	UQCRH	ACTA1	HLA-DPA1	IRF2BP2	P4HA2	CEACAM3	STX1A	MTHFD1	VARS1	LIG1	TERC	MAP3K20	ITCH	CYP4F22	BLM	ITGA3	TFRC	TNFRSF13C	COL5A2	RELB	DDX59	DNAAF4	ALDH18A1	PLEC	CCBE1	DIP2B	LTBP1	FAT4	SLC9A3	ECM1	IL21	GFI1	NHP2	TAP2	HLA-DRB1	GTF2IRD1	GNS	NOP10	CYBA	SDCCAG8	TMEM94	CARD11	TINF2	RTEL1	NFE2L2	ALPL	TRAIP	GLUL	NFKBIA	GRIA1	VAMP1	STING1	LETM1	LAMA2	PSMB8	MPLKIP	BACH2	TLL1	TBCD	DCTN4	RFC2	SCN11A	SCN9A	TBL2	GEMIN4	TRIM37	NEPRO	GTF2I	SIK1	MCM4	SIAH1	NELFA	MYO9A	EXOSC9	ELANE	PIK3CG	B2M	DNAJC30	NPAP1	BCR	IER3IP1	OAS1	ELF4	DNAL1	H4C5	SNORD116-1	FMO3	CCDC40	AK2	WDR19	SUCLG1	IVNS1ABP	TARS1	IRAK4	DKC1	IL2RB	ZBTB7A	DNMT3B	SLC26A2	UNG	NHLRC2	SHROOM4	LRRC8A	IKBKB	ARID2	RAB3GAP2	GSTM3	ERCC2	GORAB	C3	AGRN	KANSL1	POLR2A	GTF2IRD2	LIMK1	IGHG2	TMEM270	BCL10	SFTPC	TET2	PLP1	MED25	NRAS	ADNP	KRAS	IL7R
HP_PULMONARY_FIBROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_FIBROSIS	TERT	HLA-DRB1	TERC	NHP2	CCN2	RTEL1	PARN	FAS	BNC1	PSMC3IP	GATM	CCR6	NUP107	CYBC1	PLEC	MRPS22	CAV1	NR5A1	KIAA0319L	SFTPA2	NPC2	MUC5B	SFTPC	STN1	THOC2	NDUFAF6	RASGRP1	FAM13A	FAM111B	ATP11A	IL1RN	RAC2	NOP10	HPS4	SPIDR	FSHR	IRF5	NHLRC2	SLC34A1	SP110	TINF2	AP3B1	ABCA3	SLC34A2	CTLA4	RCBTB1	ZSWIM7	BTNL2	PRTN3	STING1	PRKCD	RNF168	HLA-B	NKX2-1	CASP10	BACH2	HPS1	HLA-DPB1	DSP	DPP9	FASLG	ZCCHC8	BMP15	POLR3H	HLA-DPA1	EHHADH	DKC1	MARS1	PTPN22	SFTPA1	GBA1	TOM1	RPA1
HP_COARSE_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COARSE_HAIR	SREBF1	IKBKG	NOTCH3	LZTR1	SEC23A	TMCO1	EBP	GON7	NOTCH2	HR	TP63	ATP6V1E1	BCS1L	NRAS	SLC25A24	EPS8L3	PLOD3	CBL	C18orf32	ATP6V0A2	FLNA	RRAS2	NECTIN4	ATP7A	ATP6V1A	OFD1	LPAR6	SOS2	NAGLU	PADI3	KRAS	ERCC3	GUSB	SUMF1	CCDC47	PTPN11	SPRED2	AFF4	GNS	SGSH	KRT74	RRAS	MRAS	PTEN	RIT1	CERT1	SOS1	RASA2	RPS6KA3	HGSNAT	VPS33A	RAF1	HEATR3	SMARCAL1	TGM3	PPP1CB
HP_SPARSE_SCALP_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPARSE_SCALP_HAIR	UBA2	DCLRE1B	EIF5A	PCGF2	ERCC3	NSUN2	KAT6B	ODC1	ITGA3	CDC42BPB	MAF	SHOC2	KRT17	NHP2	ZBTB20	B3GALT6	LMNA	JUP	RIPK4	FIG4	KIFBP	GNB2	CDH3	IPO8	IGF1R	SMARCB1	CAV1	PTPN22	RNU12	SMARCE1	ATR	SETD2	LSS	RIN2	CACNA1C	IFT140	SOX11	DSC3	SOX4	DPH1	B4GALT7	TP53	NUP85	ITGB6	ARID1B	TARS1	KRT74	NSD1	BRAF	TERT	SMARCA4	NOP10	LIG4	NR3C1	EXT1	HDAC4	MBTPS2	KDM1A	AXIN2	CARS1	SMARCA2	PCNT	CDSN	RTEL1	KRT25	GJB6	EDARADD	TINF2	RPL21	GTF2H5	CST6	SPINK5	SLC25A24	VAC14	TP63	BANF1	PARN	GJA1	PPP1CB	POLR3A	ARID2	SOX18	ERCC2	TRAIP	RNF113A	HR	TRPS1	ATRX	CLDN1	LIPH	SNRPE	USP8	ATRIP	HRURF	DPH2	MPLKIP	PLK4	EPS8L3	UBR1	CRIPT	DPF2	CBS	NECTIN4	DKC1	GTF2E2	RBBP8	WNT10A	APC2	LPAR6	OCRL	ARID1A	FAS	SMARCC2	APCDD1	HLA-DRA	WLS	NEPRO	DSG4	NTRK1	WRN	AHSG	KANK2	RNU4ATAC	MED25	CDH23	RECQL4	ACD	PRKD1	TSPEAR	USP48	BICRA	ADNP	GJB2	CENPE	SMARCD1	CENPJ	CEP152
HP_WHITE_FORELOCK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WHITE_FORELOCK	PAX3	SOX10	SNAI2	MITF	WRN	KIT	EDN3	PEPD	TERT	KITLG	TYR	TFAP2A	EDNRB	LMNA
HP_CURLY_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CURLY_HAIR	KRAS	LZTR1	RIPK4	MTOR	TCHH	MAP2K1	SON	NRAS	GJA1	TMEM147	SOS1	SOS2	CCDC47	RAF1	BRAF	HRAS	JUP	RIT1	AFF4	SHOC2	GNB2	KRT25	USP9X	GAN	H4C5	CDK13	CERT1	ST14	HNRNPH2	DPYSL5	SPRED2	MAP2K2	PPP1CB	SKIC3
HP_FINE_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FINE_HAIR	KRAS	CSTB	NSUN2	TWIST2	ALMS1	IFT122	IKBKG	ITGA3	PCNT	EZH2	NSD1	EDAR	NBAS	KCTD1	BRAF	ABCD1	KRT86	PIGL	KRT71	KRT74	TRIM8	WNT10A	CBL	DSG4	MSX1	PYCR1	GJB6	HRAS	LIG4	EDA	MED12	GJA1	SUOX	RMRP	EED	KRT25	EDARADD	WDR35	TINF2	SPINK5	TRMT10A	MAP2K2	GNPTAB	SATB2	GTPBP2	TP63	SUZ12	KAT6B	PPP1R15B	BRF1	NAA10	ALX4	SIN3B	SMAD4	DCAF17	IFT43	RLIM	SKIC3	KRT83	SLC7A7	TRPS1	CDH3	CARS1	OCRL	LIPH	COL3A1	SIN3A	LPAR6	RNU4ATAC	GATAD2B	MAP2K1	KRT81	DEAF1	CDSN	RAF1	ERCC2	SMARCAL1	HPD
HP_SPARSE_AXILLARY_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPARSE_AXILLARY_HAIR	LPAR6	LIPH	DMRT3	HLA-DRA	APCDD1	GATA4	LHB	GNRH1	CYP17A1	TBX3	SRA1	SRY	AXL	FEZF1	AR	ORC6	ITGB4	PSMB8	NR5A1	WWOX	AXIN2	WT1	ZFPM2	GJB6	CCBE1	ADAMTS3	COL17A1	GNRHR	WDR11	TP63	NR0B1	FGF17	SOX9	MAP3K1	FAT4	SPRY4	CYB5A	CCDC141	DSC3	SEMA3E	VAMP7	FSHB	DHX37	DUSP6
HP_PREMATURE_GRAYING_OF_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_GRAYING_OF_HAIR	PAX3	MDM2	TFAP2A	LMNA	PARN	MYO5A	PSMB8	ZNF699	EDN3	SOX10	TINF2	STN1	ERCC8	MITF	WRAP53	TERT	RAB27A	PTPN22	KITLG	ERCC6	TERC	EDNRB	USB1	CTC1	ELN	DKC1	BRCC3	FAS	INSR	WRN	NPM1	NHP2	MLXIPL	NOP10	MTAP	RECQL4	ACD	RTEL1	TYR	DSTYK	SNAI2	TYMS	SLC5A6	RPA1	ATM
HP_SILVER_GRAY_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SILVER_GRAY_HAIR	MYO5A	MLPH	RAB27A	DSTYK	LYST
HP_FACIAL_HYPERTRICHOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_HYPERTRICHOSIS	BRD4	ADAT3	COX5A	GABRA3	TMCO1	CLCN3	CTCF	KCNK4	DEAF1	HNRNPU	ZBTB20	UGDH	AFF3	HIVEP2	GNE	ZNF699	NANS	PAX3	MITF	ASXL3	ABCA5	FBXO28	EHMT1	AMMECR1	WAC	STAG1	ASXL1	SPOP	HDAC8	TRIM8	ARL3	WNT4	NAGLU	ARID1B	AIP	MED13	KCNN3	PHF8	CCDC47	CHSY1	AFF4	ANKRD11	CWF19L1	GNS	KDM1A	SMARCA2	UROS	TMEM94	BMP2	RAI1	SMC1A	TAF1	SNX14	PHIP	VPS33A	ZNF407	CHRNA7	TRAPPC10	SNAI2	CHMP1A	CDC42	CREBBP	POLR3A	MAPRE2	ASXL2	ZNF711	SMCHD1	RUSC2	HSPA9	NSUN2	PSMD12	FBXO31	EDN3	PPP1R15B	IQSEC2	TBCD	PACS1	FLII	RAC1	KATNB1	NMNAT1	TUBGCP2	MED27	KMT2A	HFE	UBE2A	PACS2	UROD	TRIO	NECTIN1	CDH11	OGT	EBF3	EMC10	PRKG2	FHL1	BCAS3	TFE3	SGSH	UGP2	PIGN	CDH2	BICRA	MAP1B	CHD5	SPEN	HGSNAT	XYLT1	HEATR3	CSNK2A1	IL1RAPL1	ZIC2	FGFR1	RAD21	CDKL5	ZNF292	KDM4B	TMEM147	CDC42BPB	SPTBN1	CUL4B	DHX30	NUDT2	NIPBL	KLF13	GNB2	PCDHGC4	IGF1R	HID1	TTI2	HMGA2	KIT	DOCK7	ZMYND11	SLC1A4	ATP6V1B2	EDNRB	TAF6	FGF3	KCNH1	FREM1	TASP1	CDK10	CDON	SMS	INSR	DDB1	SMC3	SETD5	ASH1L	GATA1	TRMT1	NFIX	UQCC2	SETBP1	TOE1	B3GLCT	CERT1	MAPK8IP3	TRMT10A	SLC25A24	BPTF	NOTCH2	KIFBP	EP300	NDST1	RPS23	GJA5	KNL1	ERLIN2	LEMD3	KCNMA1	ALG9	GJA8	MBD5	PRR12	RAB3GAP1	MAB21L1	ARX	TRAPPC9	PSMC3	GPR101	SOX10	TBCK	TALDO1
HP_ABSENT_AXILLARY_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_AXILLARY_HAIR	APOE	GJB6	ITGB4	GJB2	PPP2R3C	CYP17A1	ZBTB20	TBX3	LSS	SNRPE	HR	EPS8L3	AR
HP_ABSENT_EYEBROW	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_EYEBROW	KRAS	SOX18	PKP1	PI4KA	JUP	FRAS1	SMARCA2	POLR3A	TWIST2	HR	ODC1	ANAPC1	CWC27	TTC7A	KRT85	CDH3	ALX1	BRAF	EDA	MBTPS2	UROS	RIPK4	ZMPSTE24	RECQL4	AXIN2	GJB6	EDARADD	LMNA	DSP	MAP2K2	GJA1	UBE3B
HP_WOOLLY_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WOOLLY_HAIR	MAP2K1	LPAR6	LIPH	KRT74	HRAS	PADI3	SKIC2	BRAF	KRT25	AARS1	EFNB1	MPLKIP	CCDC47	TTC5	JUP	KANK2	DSP	DSC2	PERP	GAN	ATP7A	SKIC3	KRT71	PTPN11	TGM3
HP_WHITE_EYEBROW	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WHITE_EYEBROW	MITF	SOX10	TYRP1	PAX3	KIT	EDNRB	EDN3	MC1R	MYO5A	OCA2	SNAI2
HP_GENERALIZED_HIRSUTISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_HIRSUTISM	BRD4	BBS2	AKT1	RAD21	BBIP1	RAB3GAP1	WDPCP	ARX	NOTCH2	IFT27	CFAP418	IFT172	RERE	UBE2A	LMNA	GABRD	NRAS	GJA1	BBS1	TRIM32	ELMO2	GNE	UBE4B	RAB3GAP2	CASZ1	LMNB2	GJB3	NIPBL	SLC25A24	BBS7	KDSR	PRDM16	LUZP1	BBS10	TTC8	BBS12	ABCC9	ABCA5	CEP19	MC1R	BBS9	MAPRE2	IDUA	PPARG	PRKCZ	SPEN	SDCCAG8	BSCL2	RAB18	MKS1	IFT74	KMT2A	HSPG2	SKI	CTSC	MKKS	HDAC8	MBD5	SCAPER	GJB4	PDPN	NPHP1	LZTFL1	AIP	BBS4	BBS5	PTEN	PRKG2	CEP290	TUBB	SMC3	KCNJ8	IRF6	KCNAB2	SLC25A12	ARL6	GPR101	PEPD	SMC1A	INSR	TWIST2	SMO	MMP23B	NFIX	MAPK1	CYP19A1	TWIST1	TBC1D20	SUCLA2
HP_SPARSE_BODY_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPARSE_BODY_HAIR	GNRH1	HS6ST1	LSS	KRT25	KLHL24	EDAR	CDH3	CLDN1	COL17A1	LIPH	SNRPE	ZBTB20	JUP	HRURF	PROK2	CHD7	DUSP6	EDA2R	LAMA3	EDARADD	ST14	FGF8	WDR11	KRT71	DSC3	FGFR1	KISS1R	SPRY4	CTSC	WNT10A	KRT74	ITGB6	APCDD1	TACR3	FGF17	DSG4	CYP17A1	LAMB3	KRT85	TAC3	SOX18	EDA	AHSG	LPAR6	NSMF	KANK2	AXIN2	TRAF6	TP63	ITGB4	GNRHR	KISS1	PROKR2	RPL21	KDF1	CST6	LAMC2	LMNA	CYB5A	FMR1
HP_PATCHY_ALOPECIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATCHY_ALOPECIA	KDM5C	ZMPSTE24	LAMB3	EBP	TP63	PADI3	HR	DSG4	IKBKG	COL17A1	IL2RA	PORCN	HRAS	KRT86	BLM	LMNA	ECM1	NECTIN4	TGM3	ITGB4	KRT83	KRT81
HP_PILI_CANALICULI	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PILI_CANALICULI	PADI3	TGM3	TCHH	GAN	TP63
HP_FRONTAL_UPSWEEP_OF_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRONTAL_UPSWEEP_OF_HAIR	CREBBP	TCF4	NPAP1	TRIO	EP300	POLA1	SNORD115-1	OGT	CAMTA1	FOXP1	MKRN3	YY1	FLNA	PWRN1	FRMPD4	MED12	MAGEL2	HERC2	UBR1	SNORD116-1	PWAR1	MED13L	PPP2R3C	HDAC4	CAMK2A	IFT140	MED27
HP_GASTROINTESTINAL_HEMORRHAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROINTESTINAL_HEMORRHAGE	PMS1	EOGT	ITGA2B	WIPF1	TREX1	APC	SMAD4	IL10	TET2	JAK2	ITGA2	F11	STN1	RACGAP1	TLR4	BMPR1A	MVK	F8	SLCO2A1	CDKN1B	DLL4	ENPP1	TSC2	IFIH1	XYLT1	DZIP1L	ASXL1	TBX1	STAT4	MSH2	HPGD	GP1BB	STK11	FCGR2C	FAN1	GDF2	TNFRSF1A	DOCK6	RREB1	IRF4	GP9	KRAS	FGG	XYLT2	CDKN2B	CTLA4	ERAP1	ENG	ACVRL1	PLOD1	CALR	LBR	SLC25A13	NOTCH1	HLA-B	PRTN3	CTNNB1	VWF	MLH1	TEK	ABCC6	PDGFRA	GP1BA	IFNGR1	HPS1	HLA-DPB1	IKZF1	KIF23	FGA	SERPINE1	GFI1B	RBCK1	WAS	PIK3CA	LMAN1	ALDOB	F5	CYP7B1	MED12	SDHC	TAOK1	KIT	ATP7A	FGB	TTC7A	CDKN2C	ATRX	IL12A-AS1	PRKCSH	ITGB3	CASP10	RHBDF2	SREBF1	SDHA	FAH	HIRA	IL10RA	TSC1	C4A	F7	IL12A	IL23R	MYC	LRP5	ARVCF	MEFV	PUF60	RBPJ	ARHGAP31	F9	MPL	CISD2	AGGF1	MCFD2	MSH6	PTEN	EPCAM	RPS20	CTC1	CD109	COMT	PKHD1	AMACR	SDHB	MPI	F2	TNXB	TGFBR2	SEC24C	WFS1	PMS2	CCR1	DAXX	HSD3B7	SEMA4A	CBL	MLH3	CBS	KLRC4	ARPC1B	CDKN1A	RUNX1	PLVAP	MEN1	SEC63	SDHD	MYD88	HLA-DPA1	JMJD1C	F10	UBAC2	SRSF2	PTPN22	GREM1	UFD1	FAS
HP_HEPATOMEGALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATOMEGALY	SLC4A1	NLRP3	CIDEC	ARSB	YARS1	BAP1	B2M	UQCRB	BRCA1	LMNA	GPC4	LBR	LIPA	GNE	HBA1	ZNF699	CPT2	ETFA	RNASEH2C	MT-ND1	TERT	SLC25A20	RMRP	ADAR	HFE	GNPTAB	ABCB11	AP3D1	TP53	IFIH1	NPC2	TCIRG1	PEX14	ASXL1	JAK2	CCDC115	STEAP3	NAGLU	RASGRP1	PEX3	IL1RN	RAC2	PTPN11	ZIC3	ATP7B	SLC39A4	APOA1	HADHA	PEX16	SLC25A1	RINT1	HNF1A	MAGT1	VPS33A	HAVCR2	RNASEH2B	CPT1A	ASS1	ALMS1	VPS4A	DDRGK1	HSD17B4	SLC25A13	GBA1	PEX5	LYZ	ACADM	VIPAS39	PCCA	FDX2	PTPN2	NEK8	ERCC8	FBP1	NPHP3	XIAP	NDUFA1	MT-ND6	PEX6	ABHD5	RNU7-1	NAGA	MT-ATP6	COG1	REL	KCNN4	SLC37A4	NDUFV2	HBB	MPI	SGSH	LTBP3	IL2RA	MMUT	MPC1	LARS1	DCDC2	GALT	ASL	CAVIN1	MPL	EFL1	ATRX	MYPN	MAN2B1	JAK3	DPM2	SOX10	CASP10	RHBDF2	NDUFS4	TNFSF11	NGLY1	FAH	GUCY2D	PTPRC	NCF1	ADA	FUCA1	KRAS	SRP54	ATP6V1B2	PKHD1	RHCE	SLC40A1	DHFR	CFTR	TNNT2	MADD	INSR	ZAP70	FLNC	GPC3	RAG1	ANTXR1	SP110	LSM11	IDUA	TLR8	HEXB	MAPK8IP3	SLC7A7	TNFRSF11A	COG7	NDUFS1	MRPL3	HBA2	BMP2	ALDOB	NCKAP1L	DGUOK	BTNL2	LZTR1	NOTCH2	ATAD3A	XPR1	PEX10	RPGRIP1L	MOGS	MICU1	PRKCD	SMPD1	ETFDH	DAXX	MMAB	GLB1	CD28	PEX11B	SNX10	SH2D1A	HBG2	FERMT3	KLF1	PSAP	HYMAI	PHKG2	ANK1	KCNH1	NDUFAF3	SLC22A5	JAK1	MYD88	PIGM	CASR	FGFR2	TRAPPC11	APOE	PEX12	PEPD	CAV1	FAS	GPIHBP1	EIF2AK3	NCF4	DNASE1L3	UNC13D	NDUFS7	HMOX1	GATA2	STAT1	IRF8	TGFB1	PEX13	MEG3	MVK	ERCC6	AUH	RRAS2	TKFC	INPP5E	HYOU1	MT-ND5	ATPAF2	SPTA1	GNMT	IL6	DCLRE1C	ABCC2	POLD1	PLEKHM1	EPB42	CPOX	CCDC47	RAG2	TNFRSF13B	TNFRSF1A	G6PC3	TNFRSF1B	OSTM1	PHKA2	UCP2	MRAS	IRF4	GLIS3	PEX1	GCDH	SNX14	AP3B1	ACADVL	DPAGT1	POLG	SDHD	STX11	GPR35	LMBRD1	HSD3B7	RAB27A	PPP1R21	PEX19	IDS	KIF20A	SLC25A19	TKT	PNPLA2	CDKN2A	NCF2	PPARG	GFM1	USB1	FASLG	PYGL	RABL3	DLD	ABCB4	INPPL1	CYP7B1	IFT172	MED12	LYRM4	NDUFS8	ALG13	RNU4ATAC	NDUFB9	NEU1	MRPS7	AGL	HGSNAT	TMEM67	ASAH1	HMGCS2	NDUFB3	HLA-DRB1	LPIN2	WDR19	TULP3	PSMB10	PLAGL1	PTRH2	GAA	PALB2	NDUFS2	CD55	B4GALT1	C1QBP	RNASEH2A	NDUFAF8	NDUFAF5	JAM2	PEX2	KPTN	SLC29A3	RHAG	MT-ND3	DZIP1L	AMACR	ABCA1	SBDS	DLK1	SKIC2	CYBB	FOCAD	ALG9	HNF4A	ALG2	PALLD	SLC35C1	AGGF1	SLC2A2	MT-TK	RAF1	CTLA4	MT-ND2	TYMS	DPM1	MYBPC3	COX14	NDUFS3	GCLC	AGPAT2	CD27	WT1	ICOS	LIPE	ABCD3	STAT3	SASH3	ALG8	TTC26	GALM	MT-TW	MT-TN	PIGA	DEF6	ZNFX1	CBL	ADA2	DNASE2	SAMHD1	WDR35	GPD1	RIPK1	CD40LG	JAM3	SEC63	SLC2A1	TET2	GALNS	AKR1D1	TRIM37	ACAT1	PEX26	USP18	BAAT	TRMU	CDIN1	SC5D	COX5A	NDUFB10	CTSK	IFT122	C2orf69	NSD2	PC	MYL2	IFNGR1	PRF1	DOCK2	CYBC1	EXTL3	IFT140	IL7R	CTNS	SLC25A15	PCCB	FAM111B	GALE	HMGCL	SCO1	ERCC4	PARN	RRAS	CLCN7	COX4I2	CD247	RIT1	NUBPL	CD96	LAMA5	FCGR2A	MTX2	CALR	SOCS1	ABCC8	SLC30A10	DHDDS	EARS2	ZFYVE19	XK	SCYL1	ERBB3	MEFV	RMND1	NDUFA11	AGA	CTC1	SKIC3	CD19	CA2	ETFB	MFN2	COA8	NPM1	FARSA	LACC1	CTNNB1	MARS1	MTTP	SAA1	SCARB2	CD3D	XRCC4	CC2D2A	TMEM165	MT-TE	MT-CYB	TNNI3	NDUFAF2	BMP6	F5	SLC38A3	STXBP2	BRCA2	LYST	NRAS	NDUFV1	GNB2	WRAP53	SLC20A2	CDKN1C	SRSF2	FGA	TMEM126B	VPS45	COG4	TCF4	MT-TV	ITK	NDUFAF1	HJV	GIMAP5	AKT2	ATP6AP1	IL18BP	KIF3B	IFNG	CLDN1	ATP8B1	ERCC1	BSCL2	G6PC1	MPV17	CBS	NDUFS6	GUSB	YARS2	PDGFRB	BTD	UROS	KCNN3	NDUFAF4	PTEN	ACOX1	FBN1	TRPV6	KCNQ1OT1	SOS1	PCK1	CD70	POLG2	TERC	IL2RG	RHD	ITCH	IARS1	SF3B1	KIT	COG5	FOS	MYO5B	MYORG	SLCO2A1	ATP6AP2	ARG1	HPGD	SPTB	SUMF1	NHP2	OCLN	GNS	PDGFB	NOP10	PMM2	CYBA	CHD7	APOC2	PSMB9	MMAA	TINF2	ARL13B	PDGFRA	RTEL1	CD3E	SLC34A2	VPS13A	TMEM70	MRPS28	NAGS	CNTNAP2	ANKRD55	DHCR7	PSMB8	TALDO1	SCO2	NDUFA6	TREX1	TNFRSF13C	RFT1	PKLR	RBCK1	PUS7	IGF2	IL2RB	GALK1	CD81	MT-ND4	MET	STAT4	CTSA	CR2	MCM4	TFE3	ALDH1A2	PSMG2	PHKB	KCNQ1	XYLT1	ADAMTSL2	PRKCSH	SLC17A5	KCNJ11	HAMP	TSFM	LIG4	PTPN22	TIMMDC1	SUCLG1	RBM8A	SOS2	TOGARAM1	FOXRED1	ALDOA	DKC1	LRP5	CDAN1	BOLA3	KIF12	SPRED2	NLRP1	DNAJC21	COG6	NHLRC2	IL6ST	RASA2	HBG1	TUFM	DYNC2LI1	MST1	GLRX5	SURF1	SMAD4	GBE1	NPC1	PSMB4	ALG1	PSTPIP1	LCAT	MT-TL1	RTL1	MIF	TOM1	LPL	RUNX1	SEMA4D	VPS33B	PIEZO1	PGM1	OTUD5	NDUFB11	PIK3C2A	PIGS	DIS3L2	IKBKG	SERPINA1	EWSR1	PKD2
HP_ABNORMAL_INTESTINE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_INTESTINE_MORPHOLOGY	FOXP3	PMS1	LRP2	MT-ND4	F13A1	MKKS	ODC1	VPS37D	ASCL1	ADAM17	SDHD	IFT43	BRCA1	GPC4	SERPINA1	C1R	LIPA	ECE1	LTBP4	ZNF699	EP300	RSPH3	MINPP1	PIGY	FAT4	TERT	ADAMTS3	NDUFB11	SETD2	MT-TK	ALG1	CAMK2A	RET	FCHO1	CDKN1B	TP53	MSH2	ASXL1	SEC23B	ACTG2	ERBB2	VPS51	SIX1	RASGRP1	TCTN3	MSH6	GP1BB	ADA2	DISP1	DYNC2H1	ZIC3	LONP1	RPS28	ITGA6	MBTPS2	ZEB2	XYLT2	WAC	TMEM237	CARD8	AXIN2	CSPP1	PIK3CA	FLNA	BDNF	FGF20	PALB2	DSE	PKD1	TUBA1A	ENG	DNAH1	NTHL1	RPS29	ABCB11	CFC1	SATB2	BRCA2	LBR	LRBA	RPL35A	PRTN3	TRIP13	PIEZO1	PIK3R1	TMEM218	CFAP221	PTPRJ	HPS1	MKS1	APC	B2M	GATA6	SI	FKBP6	CC2D2A	DLC1	RFXAP	IL12RB1	RAC2	PDGFRA	MCIDAS	MAD2L2	SMARCAL1	GAS2L2	EDNRA	SLC37A4	CHD7	SLC11A1	IL12A	RNF43	KIT	MPI	MITF	PET117	SUFU	ARX	BRIP1	LIG3	DHCR24	EFL1	OPLAH	IL12A-AS1	MIF	EYA1	SNAI2	PTEN	DHODH	CAVIN1	TOM1	TEK	JAK3	IGKC	FGFR1	RAD21	SOX10	RHBDF2	LETM1	MT-ND5	MYCN	SDHA	FAH	FOXF1	GABRD	NCF1	OFD1	NRAS	RPL26	POLR1D	TCOF1	KRAS	KMT2D	SRP54	MT-TL1	IL37	SALL1	MYO1H	MYH11	FARSB	UBE3B	RRM2B	CFTR	BCL10	TTC7A	SMAD4	MADD	ZNF423	PTPN12	ZBTB24	SLC10A2	BMPR1A	INSR	DICER1	CISD2	SIX3	SLC26A9	FCN3	DNAAF1	TWNK	SDHC	CDKN2A	RFWD3	SLC7A7	IGHM	BAZ1B	SLC9A3	RPS15A	CCDC28B	CCDC22	MLH1	DOK7	SEC24C	NOTCH2	DCC	PRKCD	SPINK5	RPGR	FLI1	RELA	PEX16	HLA-B	PGM3	VANGL1	EIF4H	CPOX	CCND1	NLRC4	TCTN2	BUB1B	DYRK1A	MT-TF	KLRC4	PERCC1	PIGO	AIRE	WNT2B	CCDC103	CCNO	SRCAP	RFX6	TGFB1	JAK1	MYD88	EDNRB	COL5A1	PKHD1	CCNQ	PTF1A	PLA2G2A	SMO	CCDC39	FAS	GPIHBP1	BUB1	FANCC	NCF4	STRA6	IL6	BRD4	UNC13D	SH2B1	MBD4	KATNIP	DNAJB13	SLC39A4	COL3A1	IL10	STAT1	PRSS1	KIFBP	POLR1C	PIK3CD	HABP2	F13B	POLG	BCOR	MVK	PLG	CTBP1	GATA1	METTL27	HYOU1	ITGB2	SATB1	TBX1	ARMC9	STAT4	POLD1	GLA	MT-TH	GREB1L	CLCA4	FGFRL1	STK11	HCCS	CCDC47	LMOD1	STAT5B	MUTYH	IRF4	CLMP	FOXJ1	NME8	EPCAM	ODAD2	ZAP70	ERAP1	ACVRL1	ZFPM2	PEX6	BCL7B	XIAP	GPR35	PNLIP	HSD3B7	NRTN	CREBBP	PEX19	IDS	CTNNB1	GDNF	SPINK1	FBN2	ABCD1	NUP88	INPP5E	EFEMP2	DNAH11	RSPH4A	NEK10	IFNGR1	RERE	PIGV	SIN3A	HYDIN	PEX1	NCF2	SPEF2	USB1	FASLG	CIITA	RECQL4	CPLANE1	PEX13	RABL3	PORCN	IL10RB	SLC46A1	ABCB4	PDGFRL	MCM6	CYP7B1	SHH	SDHB	DNAAF2	MED12	FANCI	MLXIPL	ATP7A	PTCH1	COL1A1	PIGN	BICRA	RPL18	CDKN2C	ALG6	FGF8	TMEM231	XRCC2	RPL31	HLA-DRB1	HNRNPK	NSUN2	ELN	PTRH2	HMBS	CD55	CTRC	BLNK	ANTXR2	PEX11B	HIRA	WAS	RPS19	SLC29A3	MT-CO1	SALL4	IL10RA	PRKCZ	SETBP1	C4A	PEX12	TOGARAM1	SETD5	AMACR	DGAT1	B9D2	SBDS	RAD51C	SKIC2	CYBB	IL23R	WASHC5	ARVCF	FOCAD	MEFV	MCC	PALLD	FANCF	BUD23	NEK1	STX11	CD79B	RPS20	CTC1	PGAP2	CEP104	PEX2	CTLA4	TYMS	HMOX1	DOCK8	NPHP1	DNAH9	AHI1	SLC5A1	TMPRSS6	PPP1R12A	WFS1	NOTCH3	DNAAF11	PMS2	CHST14	TMEM138	WT1	FANCM	TDGF1	MMEL1	LPIN2	RPGRIP1L	UBE4B	STAT3	FERMT1	DACT1	GUCY2C	ALG8	TYMP	PIGW	LEMD3	RPS17	DEF6	APOB	ACADVL	CBL	AKT1	MLH3	ARPC1B	GPC3	DDX59	IL2RA	JMJD1C	PDE11A	CXCR4	PCSK1	AKR1D1	CHEK2	CD3G	TNFRSF1A	FANCE	LMNA	IGLL1	FANCG	RAPSN	PEX26	BBS1	MT-CO3	MYO5B	SLC51B	RPS6KA3	GFRA1	EDN3	ODAD1	WBP11	MAP3K7	GTF2H5	MT-ND1	WIPF1	MYLK	FANCB	POLA1	UBE2T	HNRNPU	FOXE1	SAR1B	JAK2	CASZ1	TCF3	IPO8	DOCK2	TLR4	CYBC1	CHRM3	STK36	RPS24	CFAP300	FLCN	DZIP1L	SHPK	DHCR7	HSPG2	MNX1	SPIB	RPS27	TCF4	CBY1	TBC1D7	CCDC65	SEMA3D	LIG4	ZMPSTE24	RREB1	PARN	KAT6A	MMP21	ALG3	COX4I2	MASP2	SMC1A	DNMT3B	CEACAM6	DIS3L2	PHOX2B	MUSK	FCGR2A	TJP2	DNAH5	SH3KBP1	CEP290	HLA-DQB1	SPAG1	CALR	SLC6A8	SOCS1	SRC	ISL1	TMEM67	HYLS1	GCLC	PRDM16	PACS1	HLA-DPB1	TREH	AGA	ASXL3	TBCE	PAX3	SKIC3	APC2	TP63	MT-ND6	HFE	TGFBR2	PDPN	CEP41	NPM1	FANCA	DNAAF5	MTTP	SAA1	MT-TS2	CLIP2	XRCC4	FGFR2	MT-TQ	SLC6A19	L1CAM	POU2AF1	BRAF	CPLX1	BUB3	F5	FREM1	KIF7	AP1S1	CCN2	STXBP2	NEUROG3	PRF1	GAS8	TMEM216	EXT2	RTTN	CARMIL2	RAD54B	CDC45	WRAP53	NAA10	CAV1	RFXANK	KCNN4	NSD2	FBLN5	ALG12	ZIC2	ABCB1	CDCA7	SERPING1	DMP1	MYC	NSD1	IRGM	CENPF	DDB1	CEP120	PEX5	AAGAB	IRF5	ODAD3	PI4KA	HELLS	WNT9B	STX3	UNC45A	MMP23B	FGFR3	PPOX	FLNB	SLC6A14	MID1	TCTN1	BLM	PLA2G4A	COMT	SMAD7	DNAI2	RMRP	ACOX2	RARB	HLA-DQA1	CDK8	RIPK1	TTC12	AP1B1	NOD2	DNAI1	FOXH1	PKP1	COX7B	TLR2	ERCC4	ATP8B1	ERBB3	TTR	SEMA4A	EXT1	CDKN1A	OCRL	PLVAP	MEN1	HLA-DPA1	ZPR1	DNAAF6	PRKAR1A	SMAD2	CEACAM3	KIAA0586	KDM3B	SRSF2	RPS7	STX1A	AMER1	VARS1	COG8	BAX	ERCC2	TERC	DCLRE1B	PRSS2	TGIF1	F12	PDGFRB	MYOD1	DNAAF4	RPS26	ALDH18A1	CCBE1	LTBP1	RNU12	SLCO2A1	SPEN	LCT	KDM6A	ODAD4	IL21	PIBF1	SKI	SLC12A2	HDAC8	ARID1B	ENPP1	MTOR	MYRF	HPGD	MIR17HG	NHP2	CFAP45	FAN1	GDF2	PEX3	GTF2IRD1	NOP10	PMM2	CYBA	NODAL	CEP57	TMEM94	TINF2	RPL15	GNAS	RPL11	CLTRN	CDKN2B	RTEL1	ACTA2	NPHP3	KITLG	RPL27	SPINT2	PLCG2	GMPPB	SYK	BACH2	LUZP1	UBR1	CFAP298	RSPH1	DCTN4	RFC2	ABL1	FANCD2	RPS10	RBCK1	TBL2	ARL13B	RSPH9	GTF2I	TNPO3	KCNAB2	SLC25A12	SEMA3C	TFAP2A	TNFSF15	DLL1	RBM10	ITGB4	RPL5	ZMYND10	PIK3CG	DNAJC30	PTCH2	MT-TE	POLE	LRRC56	COL5A2	NIPBL	USF3	WNT4	ELF4	STAG2	BTK	DNAL1	HMGA2	SLC2A2	TNFAIP3	AK2	MSH3	TRMT5	SREBF1	RBM8A	GLI2	IVNS1ABP	ARL6	DKC1	TSR2	CCR6	INAVA	DNAAF3	ITCH	SMC3	RFX5	PEX10	DNAJC21	MDM2	ELANE	COG6	POLR1B	TET2	CCDC40	TYR	SF3B4	LRRC8A	MTRFR	GSTM3	ARL3	FRAS1	MST1	SON	AURKA	PEX14	CCR1	SLX4	MT-CO2	B3GLCT	CASP10	GTF2IRD2	LIMK1	FANCL	ATRX	PSTPIP1	PGAP3	COL14A1	SLC18A3	CDON	IGHG2	TMEM270	RUNX1	SEMA4D	ITGA8	RPL35	OTUD5	GAS1	UBAC2	PIK3C2A	ALG9	KEAP1	KLLN	PTPN22	DRC1	MT-TW	EWSR1	GREM1	RAD51	B9D1	UFD1	PIGL	CD79A
HP_PROTEIN_LOSING_ENTEROPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROTEIN_LOSING_ENTEROPATHY	ALG8	PIK3C2A	CARD8	PLVAP	MPI	PTEN	STAT1	PKHD1	FOCAD	ALG1	COG8	ALG6	ADAMTS3	BLNK	DGAT1	DZIP1L	BMPR1A	CCBE1	PET117
HP_ABNORMALITY_OF_THE_SMALL_INTESTINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_SMALL_INTESTINE	PIGN	PRSS2	ODC1	FANCB	TGIF1	ADAM17	UBE2T	GPC4	STAT1	SERPINA1	LIPA	SAR1B	ZNF699	TGFB1	SUFU	PRSS1	IPO8	ALDH18A1	POLG	LTBP1	FBLN5	PLG	SLC9A3	LCT	ALG1	CTBP1	CAMK2A	AKR1D1	CDKN1B	ELN	DZIP1L	SHPK	PI4KA	ARID1B	SPIB	CLCA4	FGFRL1	MIR17HG	TBC1D7	DISP1	SKIC2	CFAP45	CCDC47	ZIC3	STAT5B	BUB1B	XYLT2	WAC	STX3	PMM2	CARD8	NODAL	ALG3	CEP57	COX4I2	CLMP	EPCAM	CEACAM6	DIS3L2	CDKN2B	PALB2	FCGR2A	DSE	TJP2	MYCN	ABCB11	HLA-DQB1	GPR35	PNLIP	HSD3B7	SATB2	BRCA2	LBR	LRBA	TRIP13	SOCS1	SPINK1	FBN2	GMPPB	EFEMP2	SYK	GCLC	RERE	RFXAP	RAD51C	DCTN4	IL12RB1	FANCD2	CIITA	GATA1	SKIC3	PORCN	RAD21	PEX12	HFE	MCM6	FANCF	MAD2L2	CYP7B1	SHH	EDNRA	CHD7	MED12	FANCA	FANCI	TNPO3	SLC11A1	IL12A	MLXIPL	MPI	SLC25A12	CCBE1	PET117	PTCH1	MTTP	CFTR	BRIP1	TTC7A	FOXF1	BICRA	TNFSF15	EFL1	CDKN2C	DLL1	ALG6	RFWD3	RBM10	FGF8	XRCC2	MIF	TOM1	SRP54	IGKC	FGFR1	POU2AF1	FOXP3	LETM1	CPLX1	BUB3	PTRH2	MYH11	ADAMTS3	CTRC	BLNK	ANTXR2	SRCAP	BMPR1A	RTTN	PERCC1	WNT4	STAG2	CDC45	TYMP	TNFAIP3	RFXANK	KCNN4	ACTG2	NSD2	AMACR	DGAT1	SALL1	ZIC2	MYO1H	SBDS	RBM8A	GLI2	BRCA1	RRM2B	IVNS1ABP	MYO5B	FOCAD	LIG3	SLC10A2	CENPF	RFX5	DNAJC21	TCF4	SIX3	SLC26A9	PTEN	IRF5	UNC45A	SLC6A14	SLC7A7	FLNA	PLA2G4A	HMOX1	ACOX2	RARB	HLA-DQA1	GSTM3	FRAS1	PPP1R12A	MST1	CHST14	EP300	FANCM	TDGF1	SPINK5	MMEL1	FLI1	SLX4	RELA	STAT3	FOXH1	ALG8	CPOX	AP1S1	ERCC4	FANCL	ATP8B1	NLRC4	DEF6	APOB	DYRK1A	CDON	IGHG2	GPC3	CDKN1A	WNT2B	PLVAP	SEMA4D	RFX6	MEN1	IL2RA	CXCR4	PCSK1	GAS1	FANCE	FANCG	PIK3C2A	ALG9	CEACAM3	PKHD1	PTF1A	KDM3B	STX1A	SLC51B	COG8	RAD51	BUB1	FANCC	WBP11	STRA6	GTF2H5
HP_MECKEL_DIVERTICULUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MECKEL_DIVERTICULUM	RBM8A	FGFR1	BRCA1	BRCA2	FANCB	MAD2L2	FANCA	FOXF1	UBE2T	FANCM	FANCI	GPC4	FANCE	FANCF	SLX4	FANCG	BRIP1	ERCC4	FANCL	RAD51	RFWD3	RAD51C	XRCC2	PALB2	FANCC	GPC3	FANCD2	GTF2H5
HP_ABNORMAL_DUODENUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DUODENUM_MORPHOLOGY	PIGN	BRCA2	MYCN	FANCB	BUB3	TGIF1	ADAM17	CHST14	TRIP13	EP300	FOXF1	CEP57	UBE2T	FANCM	TDGF1	FBN2	FLI1	SLX4	FOXH1	SYK	SUFU	RTTN	IPO8	STAG2	CDC45	RERE	ERCC4	FANCL	PLG	ACTG2	DYRK1A	CAMK2A	RAD51C	CDKN1B	CDON	FGFR1	FANCD2	SALL1	CDKN1A	ZIC2	MYH11	GATA1	PORCN	GLI2	BRCA1	ARID1B	RAD21	TTC7A	RFX6	MEN1	FANCF	MAD2L2	DISP1	SHH	CHD7	FANCA	CFAP45	FANCI	CENPF	ZIC3	GAS1	FANCE	BUB1B	XYLT2	FANCG	SIX3	PTCH1	CARD8	NODAL	BRIP1	KDM3B	CDKN2C	RFWD3	DLL1	RAD51	RBM10	FGF8	XRCC2	CDKN2B	PLA2G4A	PALB2	BUB1	FANCC	WBP11	STRA6	RARB
HP_DUODENAL_ATRESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUODENAL_ATRESIA	PIGN	PORCN	GLI2	RFX6	MYCN	FANCF	BUB3	TGIF1	DISP1	SHH	CHD7	TRIP13	FOXF1	CEP57	CFAP45	TDGF1	CENPF	FANCB	ZIC3	FBN2	GAS1	FLI1	BUB1B	FOXH1	SIX3	PTCH1	SUFU	RTTN	NODAL	STAG2	RERE	TTC7A	KDM3B	RFWD3	DLL1	DYRK1A	CAMK2A	FGF8	CDON	FGFR1	BUB1	WBP11	SALL1	ZIC2
HP_HEMATEMESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMATEMESIS	FGB	GP1BA	ACVRL1	WIPF1	WAS	MEN1	GP9	GP1BB	MED12	CDKN2C	CDKN2B	ATRX	ENG	FGA	CDKN1B	FGG	IFIH1	CDKN1A	DAXX	PKHD1
HP_MELENA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MELENA	RACGAP1	ACVRL1	PTEN	WAS	ITGA2B	ITGB3	MEN1	SREBF1	FAH	CDKN2C	GP1BA	CD109	APC	CDKN2B	KIF23	ATRX	ENG	CDKN1B	GP1BB	CDKN1A	ITGA2	BMPR1A	DAXX
HP_ABNORMAL_LARGE_INTESTINE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LARGE_INTESTINE_MORPHOLOGY	FOXP3	PMS1	F13A1	WIPF1	VPS37D	POLA1	SDHD	SMAD4	BRCA1	SERPINA1	FOXE1	LTBP4	DOCK2	MINPP1	APC	CYBC1	NDUFB11	RPS24	FCHO1	TP53	MSH2	FLCN	SEC23B	ACTG2	MNX1	RPS27	RASGRP1	TCTN3	MSH6	ADA2	SKIC2	LIG4	RPS28	LMOD1	ZMPSTE24	CARD8	AXIN2	MASP2	EPCAM	PIK3CA	CEACAM6	MLH3	FCGR2A	PKD1	ENG	SH3KBP1	NTHL1	RPS29	MLXIPL	LRBA	RPL35A	MUTYH	TRIP13	SRC	PDGFRA	GCLC	PTPRJ	HPS1	LONP1	FKBP6	DLC1	RFXAP	WAS	RAC2	HFE	TGFBR2	EDNRA	SLC37A4	SLC11A1	KIT	CLIP2	OPLAH	PTEN	PMS2	MIF	EP300	JAK3	HCCS	BRAF	RHBDF2	BUB3	SDHA	FREM1	SDHB	KIF7	STXBP2	MYH11	NCF1	PRF1	BRCA2	SKIC3	CARMIL2	RAD54B	NRAS	RPL26	NAA10	POLR1D	TCOF1	RFXANK	KRAS	KCNN4	MYLK	IL37	SALL1	ABCB1	CFTR	BCL10	PTPN12	IRGM	BMPR1A	SALL4	INSR	DDB1	DICER1	PIGY	AAGAB	TCF4	SLC26A9	FCN3	RPS19	PI4KA	FGFR3	CDKN2A	FLNB	SLC6A14	IGHM	MID1	BLM	SMAD7	BAZ1B	SLC9A3	RPS15A	ELN	CDK8	MLH1	RIPK1	DCC	NOD2	PRKCD	HLA-B	VANGL1	EIF4H	COX7B	TLR2	AP1S1	CCND1	ERBB3	NLRC4	RET	BUB1B	SEMA4A	RNF43	TGFB1	JAK1	SOX10	PRKAR1A	CEACAM3	COL5A1	CCNQ	RPS7	STX1A	PLA2G2A	FAS	GPIHBP1	DACT1	BUB1	SDHC	BAX	IL6	DCLRE1B	UNC13D	MBD4	STAT1	LMNA	POLR1C	RPS26	PIK3CD	HABP2	F13B	RNU12	GATA1	METTL27	ITGB2	IL21	POLD1	CLCA4	STK11	FAN1	GTF2IRD1	POLG	RPL15	RPL11	ZAP70	BCL7B	XIAP	GPR35	RPL27	AKT1	SPINT2	PLCG2	SYK	BCOR	BACH2	PIGV	UBR1	NCF2	DCTN4	RFC2	RPS10	RBCK1	FASLG	CIITA	RECQL4	TBL2	RABL3	IL10RB	PDGFRL	GTF2I	CYBA	MED12	CCBE1	COL1A1	PIGN	TTC7A	TFAP2A	RPL18	RPL31	HLA-DRB1	RPL5	PIK3CG	DNAJC30	NSUN2	NCF4	RTEL1	GATA6	POLE	PALB2	CEP57	COL5A2	NIPBL	MKKS	USF3	PERCC1	ELF4	TNFAIP3	IL10RA	MSH3	RAD51C	CYBB	IVNS1ABP	TSR2	INAVA	MCC	PALLD	RFX5	MDM2	ELANE	COG6	POLR1B	BUD23	STX11	RPS20	CTLA4	HMOX1	DOCK8	GSTM3	MST1	AURKA	CHEK2	MEFV	FERMT1	GUCY2C	TYMP	CASP10	GTF2IRD2	LIMK1	RPS17	PSTPIP1	DEF6	COL14A1	ACADVL	ARPC1B	CTNNB1	TOM1	TMEM270	SEMA4D	RPL35	PDE11A	OTUD5	KEAP1	KLLN	RPS6KA3	GREM1	MAP3K7
HP_INTERMITTENT_DIARRHEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERMITTENT_DIARRHEA	TLK2	RABL3	TYMP	CDKN2A	POLG	ATP6V0A1	DOCK2	GATA6	ACSF3	SMAD4	COG4	KRAS	PALB2	BRCA1	ZNFX1	G6PC1	PALLD	ATRX	TP53	BRCA2	DAXX
HP_SMALL_BOWEL_DIVERTICULA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_BOWEL_DIVERTICULA	FBLN5	ALDH18A1	ELN	LTBP1	EFEMP2
HP_CHRONIC_RHINITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_RHINITIS	DNAH9	ZMYND10	SPAG1	DNAJB13	MCIDAS	TTC12	FOXJ1	DNAH1	DNAL1	TNFSF11	DNAAF11	LRRC56	RPGR	CCDC103	DNAI1	DNAI2	SNX10	GAS8	SASH3	DNAH11	CFAP221	DNAAF4	OFD1	RSPH4A	RSPH3	NEK10	RSPH9	SLC29A3	HYDIN	STK36	SPEF2	CFAP298	ODAD4	RSPH1	ODAD2	CFAP300	ALG12	CCNO	GAS2L2	DNAAF2	CCDC65	DNAAF3	TCIRG1	DNAAF6	DNAAF5	RAG1	DNAAF1	CLCN7	ODAD3	RAG2	CCDC40	NME8	DRC1	CCDC39	ODAD1	DNAH5
HP_EXAGGERATED_CUPID_S_BOW	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXAGGERATED_CUPID_S_BOW	SLC1A3	RTL1	NRCAM	HNRNPK	H3-3A	SLC35A2	EXOC2	ZMIZ1	CLCN3	DNMT3A	GPC4	TRIP12	ATP1A3	KIF7	HNRNPU	RALA	CACNA1A	MED25	PIGT	B3GLCT	SMARCA2	MEG3	TMEM94	SUPT16H	TBCK	NXN	DLK1	ROR2	MED27	ATP1A2	ZNF462
HP_LARGE_FLESHY_EARS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_FLESHY_EARS	NARS1	ALG9	PIGN	COLEC10	TNPO2	COLEC11	MASP1	TRAPPC9	ATP6V1B2	TBL1XR1	TAPT1	KCNN3	KCNH1
HP_FOCAL_CLONIC_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_CLONIC_SEIZURE	SCN2A	CUX2	KANSL1	DMXL2	SCN9A	GRIN2A	GLYCTK	KCNK4	SMARCAL1	ATP1A3	PRRT2	RELN	SCN1A	GNB1	KCNQ2	MICAL1	KCNQ3	PCDH19	GABRA1	GABRG2	TBC1D24	PEX3	SRPX2	LGI1	FRRS1L	SLC12A5	SCN1B	UFSP2	SCN8A	GABBR2	ADAM22
HP_EXAGGERATED_STARTLE_RESPONSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXAGGERATED_STARTLE_RESPONSE	ARHGEF9	FLRT1	TRAK1	GM2A	PLAA	GPHN	MTHFS	GLRA1	KLC2	TSPYL1	GLRB	SLC6A5	FKTN	TNIK	SLC6A9	CACNA1I	ZMYM2	ASNS	PURA	GLB1	HEXB	DDC	SOD1
HP_PAROXYSMAL_DYSTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAROXYSMAL_DYSTONIA	PRDM13	CHRNA2	CABP4	CHRNB2	DEPDC5	TSEN34	TSEN2	CHRNA4	TSEN54	DLAT	TBC1D24	CRH	FARS2	PNKD	PRRT2	KCNT1	TSEN15	SEPSECS	SLC2A1
HP_ABNORMALITY_OF_NEURONAL_MIGRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_NEURONAL_MIGRATION	FGF8	TSEN2	FKRP	MN1	DLL1	KIF2A	KAT6B	VLDLR	STIL	CUL4B	SASS6	NSDHL	POMT1	CPLANE1	TMTC3	HYLS1	PHC1	CPT2	FKTN	KIAA0753	ETFA	B3GALNT2	SMARCB1	ADAMTS3	B4GAT1	FBXO28	PEX5	PEX14	SPOP	IQCB1	ATP6V1A	MAGEL2	ATP1A2	COL18A1	PEX26	CEP152	SRPX2	PEX10	PDHB	CBY1	SMARCA4	KIF14	ARFGEF2	CCND2	TUBA8	ZEB2	CAMTA1	MED12	GPX4	PLK4	POMK	TMEM237	SCN2A	CSPP1	DAG1	EXOC7	ARID1B	RDH12	TRAPPC14	ANKLE2	CRB1	CEP290	NRCAM	POLR3A	ASPM	TOPORS	RXYLT1	VPS4A	LMNB1	HSD17B4	RPS6KA3	FGFR3	EOMES	VIPAS39	ADGRL1	SMO	TMEM67	TMEM218	TSEN54	KIF11	INTS8	RMND1	PIGQ	MACF1	QARS1	SRD5A3	GMPPB	C2CD3	DMXL2	CC2D2A	MAN1B1	MECP2	VPS33B	PIK3CA	KATNB1	TUBGCP2	LARGE1	HNRNPK	LAGE3	POMGNT1	NPRL2	ARID1A	GLI2	KIF7	MKS1	ZNF526	ETFB	CEP41	CENPJ	ATN1	GPSM2	TP73	COL4A1	TCTN2	ATR	CLP1	GNB1	WT1	CPLX1	POU4F1	SLC30A9	SUFU	ARX	ATP6V1B2	POMGNT2	FMR1	TPRKB	ASNS	FIG4	PRKDC	CDH2	ZNF335	KANSL1	NCAPD3	MAP1B	TUBB2B	DHCR24	RELN	SPEN	TRRAP	ARF1	TMEM107	ACTG1	NDN	KLHL15	SMARCD1	SIK1	CIT	NUP107	PEX16	COPB2	GAS1	CRPPA	LCA5	FTO	POMT2	PDE6D	TAF13	LAMA2	TUBB	DHX16	CSGALNACT1	PIGB	ERMARD	MLYCD	KCNJ13	TMEM216	TBC1D24	RTTN	SLC20A2	GRM7	PAFAH1B1	TUBGCP4	ALG11	GMNN	CRB2	OSGEP	ALG12	ADGRG1	HIC1	EPG5	THOC2	TBC1D20	ACTB	RAC1	IBA57	ZNF423	DONSON	CDK6	KIAA0586	CEP120	TTC5	TULP1	CDKL5	AKT3	TSEN34	CENPE	PI4KA	MTOR	CTU2	APC2	MAPK8IP3	TUBB2A	MCPH1	CDK5RAP2	TUBA1A	TGIF1	TCTN1	VAC14	ASXL1	TUBB3	NDE1	OCA2	ERCC1	ANKRD11	CCDC22	AKT1	KIFBP	LAMB1	LRAT	SNRPN	PSAT1	ZMIZ1	PEX6	WDR73	XPR1	RPGRIP1L	MICU1	FLI1	ETFDH	DCHS1	CASK	SON	WDR26	MFSD2A	ZSWIM6	DISC1	DYRK1A	CEP135	NPRL3	SMARCE1	SOX11	LAMA1	AHI1	PIGP	TMX2	NDUFA6	RAB3GAP1	PDGFRB	PEX1	ATXN2	ZNHIT3	ASCC1	CILK1	CEP63	ZIC2	FDFT1	VPS35L	PHGDH	PCYT1A	KATNIP	TP53RK	KAT5	LMNB2	AIPL1	MPDZ	PEX3	SPATA7	MYORG	RAB18	FOXG1	TRAPPC10	MEG3	CSF1R	CCBE1	MCM7	PLCH1	XRCC4	PYCR2	FAT4	FLNA	PPIL1	TBR1	INPP5E	PTEN	PAX6	PIBF1	ARMC9	TCTN3	MLH1	RPE65	CDK5	WDR62	SIX3	OCLN	SLC25A22	SHMT2	PDGFB	LIPT2	SMPD4	GNAO1	EML1	SCN3A	CDON	PIDD1	BICD2	EXOSC5	FH	TRAIP	COL4A2	TRIM8	OFD1	GPHN	FOXH1	CNTNAP2	PEX19	PTCH1	CRADD	KNL1	DHCR7	RAB3GAP2	IFT140	NARS1	TDGF1	ADD3	GRIN1	ARHGAP31	STS	DEPDC5	DCX	KIF5C	RD3	MED27	WDR4	RECQL4	PEX13	PPFIBP1	ARL13B	BLTP1	IMPDH1	TUBB4B	PIK3R2	BMPER	CCDC88A	YRDC	TUBGCP6	DOCK6	RALGAPA1	PEX12	PLAA	SMARCC2	ISCA1	PEX11B	USP45	PEX2	SUZ12	TMEM231	PRORP	CSNK2A1	SHH	PNKP	KCNA1	GFM2	ZNF292	SCN1B	NUP133	NEDD4L	EIF2AK2	ATP1A3	ATP6V1E1	DYNC1H1	IER3IP1	JAM2	PDCD6IP	CEP85L	KAT8	ODC1	TOGARAM1	TSEN15	LAMC3	ALDH6A1	TMEM222	SOX4	B9D2	NSRP1	DLK1	WASHC5	MAN2C1	PDHA1	NBN	CDC40	FRMD5	COG6	RPGRIP1	NFIX	TUBG1	NEK1	SF3B4	CEP104	SNAP29	SLC25A24	SLC5A6	NPHP1	MBOAT7	LONP1	ARID2	GDF6	ARL3	FRAS1	TUFM	PPP1R12A	TBL1XR1	GUCY2D	TMEM138	LMBRD2	CTNNA2	PMS2	DYNC1I2	NODAL	NMNAT1	USP9X	DHX37	ATP6V0A2	MAST1	RTL1	DPF2	DISP1	COL3A1	CRX	YWHAE	FUZ	METTL5	NEUROD2	SIN3A	RNU4ATAC	FAM149B1	USP18	PLP1	SLC25A19	B9D1	SEPSECS	AHDC1
HP_ABNORMALITY_OF_THE_AUTONOMIC_NERVOUS_SYSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_AUTONOMIC_NERVOUS_SYSTEM	PIGN	MKKS	ZIC2	FANCB	ASCL1	PLCH1	UBE2T	ECE1	SNCA	TGIF1	CYP11B2	SPG11	PIGY	NODAL	SOX10	SETD2	PRKN	RET	SIX3	ERBB2	CYB561	DHCR7	SPIB	TCF4	GP1BB	CBY1	SEMA3D	DBH	MBTPS2	ZEB2	RREB1	TMEM237	DLL1	CALM3	CSPP1	LRRK2	GAS1	PHOX2B	ATP7A	BDNF	SYNJ1	COQ2	PALB2	KCNQ1	STIL	SHH	CEP290	EDN3	FOXH1	BRCA2	SCN11A	FGF8	SLC6A8	LMNB1	VPS11	TTR	LGI1	GLA	TMEM67	HYLS1	TMEM218	LEPR	TBX1	GMPPA	KCNE2	B2M	CC2D2A	ACOX1	SCN4B	RAD51C	IL12RB1	UCHL1	PAX3	APC2	ZFHX4	MKS1	MECP2	MAD2L2	CEP41	NTRK1	FANCA	PIGO	IL12A	CDON	MITF	SUFU	GLI2	ARX	BRIP1	FOXF1	RFWD3	GDNF	SNAI2	SLC1A3	L1CAM	VPS35	POU2AF1	FGFR1	ATL3	ADH1C	TMEM216	DEPDC5	EDNRB	GNB2	NAA10	DNAJC13	HTRA2	NOS1AP	BRCA1	NR4A2	NSD1	ZNF423	CEP120	GABBR2	CISD2	MYO1H	GIGYF2	FMR1	WDR45	SPTLC1	PPOX	HEXB	EIF4G1	TCTN1	SIM1	COMT	ATP1A2	RMRP	CCDC28B	KRAS	KIFBP	MAPT	SCN9A	SLC18A2	SEC24C	ARSA	ERCC4	ERBB3	SALL4	TCTN2	SMC1A	ANK2	RFC1	SNTA1	CACNA1C	PARK7	GFAP	TBX5	GBA1	ATXN3	ELP1	CCT5	LEP	VPS13C	RELN	COL5A1	KIAA0586	DISP1	SMO	PLA2G6	SCN5A	COL25A1	KCNJ5	FANCC	TXN2	GBE1	PODXL	SH2B1	KATNIP	SPTLC2	CAV3	PTCH1	MT-TT	PIGV	AHI1	TDGF1	PIBF1	ARMC9	SCN10A	ATP1A3	KIT	GCK	GLUD2	FBXO7	PINK1	SNCAIP	VPS13A	KITLG	NRTN	CALM1	ABCD1	INPP5E	BCOR	FANCD2	PRNP	GATA1	CPLANE1	ATXN2	ARL13B	RAD21	TUBB3	FANCI	TNPO3	BRAT1	COL1A1	SEMA3C	TNFSF15	GSN	TMEM231	XRCC2	KCNH2	LIFR	ATXN8OS	TWNK	TBP	COL5A2	SCN3A	CALM2	HIRA	CAV1	POLR3A	TUBA1A	STAG2	SETBP1	ACTG2	TOGARAM1	PSAP	SREBF1	B9D2	ARL6	SLC6A2	ARVCF	FANCF	IRF5	TYR	PGAP2	SF3B4	CEP104	NPHP1	KCNE1	ARL3	WFS1	TMEM138	FANCM	MMEL1	SLX4	RPGRIP1L	CACNA1A	PIGW	FANCL	ATRX	PGAP3	AKAP9	DDX59	JMJD1C	AAAS	TRDN	FANCE	FANCG	BBS1	TSPYL1	DNAJC6	RAD51	B9D1	UFD1	CHRNA3	KIF1B	ATL1	PIGL	CHCHD2
HP_TETRAPARESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TETRAPARESIS	SLC1A3	PNP	AASS	FUS	FA2H	NAXE	PAFAH1B1	CARS2	AFF3	SOX4	STXBP1	PRUNE1	ERLIN2	NDUFS3	ALS2	KCNJ6	BSCL2	HSD17B10	TNFRSF11A	SLC35A2	AUH	SDHB	L2HGDH	FAR1	TARDBP	LMX1B	TMEM222	PLP1	UCHL1	IFIH1	GSS	SQSTM1	PSAP	MFSD2A	AGTPBP1	REEP1	PSEN1	ARFGEF2	ATP1A3	TRAPPC4	LIMS2	PHACTR1	WDR62	SLC18A2	ADAR	GJA1	LIPT2	APOE	ALG3	GM2A	NUP62	STAMBP	VCP	SARDH	COL4A1	PPOX	SOD1	TNR	GUF1	ATP1A2	ARX	TBCE	PSAT1	LIPT1	GALC	LMNB1	NEK1	SLC25A10	LRP4	SLC19A3	TBK1	SDHAF1	FBLN1	AIFM1	HINT1	CACNA1A	ATP6V1A	EARS2	ABCD1	SDHA	TACO1	RERE	SMC1A	PRPS1	C9orf72	COA8	NMNAT1	NFU1	RNU7-1	PDHX	EXOSC8	POLR3K	MT-ATP6	SDHD	DYM	PRDM8	MRM2	EIF2S3	GAD1	NEXMIF	UGP2	CHCHD10	MOCS1	KCNQ2	SLC1A2	LYRM7	PLA2G6	CA2	GBE1
HP_POOR_MOTOR_COORDINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POOR_MOTOR_COORDINATION	SCN2A	SBF2	BMPR1B	SCN1A	NPAP1	MMACHC	MEG3	GNB5	FXN	POMT1	RNU12	ALMS1	AASS	SLC30A10	SNORD115-1	LARGE1	CAMTA1	GCDH	HTT	DLK1	PIEZO2	DMPK	MFN2	POMT2	MKRN3	RAI1	PWRN1	GNE	RTL1	MAGEL2	GDAP1	C19orf12	PCDH19	SCN1B	SNORD116-1	SLC2A3	PWAR1	KCNQ2	FMR1	BSCL2	STX1B	ADGRV1	PMPCA	SCN9A	RAD51	THG1L	GABRG2	PDHX	PPP2R2B	EZH2	VCP	FKRP	FOCAD	SIN3A	DCX	RDH11	DCC	CXCR4	GMPPB	HCN1	FOXP2	ZEB2	ATP7B	MTRFR	NTN1	HERC2	DNAL4	GABRD	GABRA1	VPS13A	CLN5	PRNP	DARS2
HP_ENLARGED_CISTERNA_MAGNA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_CISTERNA_MAGNA	CPLANE1	SLC35A2	SH3PXD2B	NDUFC2	SH2B1	FAR1	MAPKAPK5	ALDH18A1	NSD1	AFF3	MAN2B1	BRF1	PLPBP	POLR2A	NEK8	OPHN1	RAB18	TIMMDC1	ALDH7A1	CSF1R	PLCH1	OFD1	FBXO28	SETD2	VRK1	KIAA0586	RAC1	KATNB1	POGZ	PMPCA	DPH5	POMK	APC2	EDEM3	VPS51	PIGU	CSPP1	EXOSC8	PACS2	COG1	FOXC1	PRX	PMM2	POMT1	PITX1	CDH2	CTU2	FLNB	ACADVL	SLC5A6	IL6ST	CNOT3	BANF1
HP_GRAY_MATTER_HETEROTOPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GRAY_MATTER_HETEROTOPIA	VPS35L	HNRNPK	TAF13	TUBB	KIF2A	KAT6B	ZNF292	DHX16	TUBB2B	STIL	CSGALNACT1	SASS6	NEDD4L	POMT1	PAFAH1B1	ERMARD	MPDZ	TMTC3	HYLS1	PHC1	FKTN	KAT8	TBC1D24	RTTN	TRAPPC10	CSF1R	FKRP	B4GAT1	MCM7	PLCH1	PYCR2	OFD1	FLNA	ALG11	CRB2	ALDH6A1	C2CD3	MLH1	EPG5	PDHB	ARFGEF2	MAN2C1	KIF14	PTEN	CDK6	WDR62	MAP1B	ZEB2	AKT3	MED12	DCHS1	TUBG1	PEX1	EML1	MTOR	APC2	MCPH1	CDK5RAP2	SLC25A24	TRAPPC14	ASXL1	ANKLE2	FAT4	ANKRD11	CPLANE1	NRCAM	AKT1	LAMB1	COL4A2	CRPPA	PPP1R12A	ZMIZ1	POMK	ASPM	LMBRD2	ADGRL1	KNL1	DHCR7	PMS2	TUBA1A	MFSD2A	INTS8	ADD3	ZSWIM6	FGFR3	GMPPB	CEP152	DCX	MAST1	MAN1B1	ARF1	PIK3CA	CEP135	KATNB1	TUBGCP2	POMGNT1	LAMA1	PPFIBP1	METTL5	BLTP1	CENPJ	COPB2	GPSM2	CEP85L	ARMC9	RNU4ATAC	CPLX1	POMT2	RALGAPA1	FMR1	CEP63	USP18	CDH2	KANSL1	NCAPD3	SPEN	TMEM107	PRORP	CIT
HP_GLOBAL_BRAIN_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLOBAL_BRAIN_ATROPHY	PYCR2	SCN2A	NUP214	CYLD	SPATA5	FUS	TANGO2	CYP27A1	ACTL6B	NAXE	CARS2	TBK1	ST3GAL5	PLA2G6	DHCR7	SON	ABCD1	PCDH19	PIGT	CSF1R	PRNP	PSAP	TIMM8A	ALG13	ERCC6	C9orf72	L2HGDH	AIMP1	TDP1	GFM1	TARDBP	SMG9	SATB1	UNC80	SQSTM1	DOHH	RNF113A	SCN9A	COPB1	AGTPBP1	CYB5A	NDUFS2	PUF60	ALG9	NDUFB8	OTUD5	SCN1A	SURF1	GNB1	WDR81	SCO2	NDUFAF3	TPK1	GABRG2	PANK2	CHCHD10	WARS2	GABRA1	VARS1	PLP1	LYRM7	TXN2	PNPO	VCP	TBCK	DPAGT1	SCN1B	CYB5R3	ARX	RAB3GAP2	CNPY3
HP_FAIR_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FAIR_HAIR	LPAR6	KANSL1	ABCA2	RMRP	UBE3A	PIGN	UBR1	PDE4D	SNRPN	TP63	BLOC1S5	MOGS	AP3B1	IFT140	SLC17A5	TAFAZZIN	PRKAR1A
HP_ALOPECIA_UNIVERSALIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALOPECIA_UNIVERSALIS	DSP	TRPV3	VDR	HR	AIRE	SNRPE	PERP	LMNA	IL2RA	AHSG	PKP1
HP_FRONTAL_BALDING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRONTAL_BALDING	NR3C1	WNT4	PQBP1	NEXMIF	ALMS1	SYNGAP1	GJA5	SLC6A1	CNBP	SCN1A	ABCD1	GJA8	CHD2	AP2M1	DMPK	SLC2A1
HP_ALOPECIA_OF_SCALP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALOPECIA_OF_SCALP	ITGB4	ERCC3	ERCC2	RNF113A	TTC7A	EBP	KLHL24	CLDN1	COL17A1	KRT74	UROD	WRN	MPLKIP	LAMA3	PLEC	COL3A1	HTRA1	ECM1	RHOA	SLC29A3	MAP2K2	GTF2E2	COL18A1	PKP1	PI4KA	DCLRE1C	POLR3A	TARS1	KRT14	LAMB3	GJB2	GATA1	SLC39A4	CARS1	SLC27A4	UROS	CDSN	TP63	GTF2H5	LAMC2	GJB6	MBTPS2
HP_RED_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RED_HAIR	PCSK1	PDE4D	POMC	TYRP1	OCA2	PRKAR1A	ZNF469	MC1R
HP_ABSENT_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_HAIR	KRAS	SOX18	JUP	FRAS1	TWIST2	ODC1	NR5A1	CWC27	TTC7A	GJB2	LRP1	CDH3	ALX1	ZBTB20	TBX3	LMNA	RIPK4	AR	POLR1C	POLR1D	ITGB4	TCOF1	PPP2R3C	HOXC13	NECTIN4	LSS	SNRPE	MAP2K2	EDARADD	PKP1	PI4KA	SMARCA2	POLR3A	APOE	HR	ANAPC1	KRT85	GJB6	GNRH1	BRAF	EDA	MBTPS2	UROS	EPS8L3	ZMPSTE24	RECQL4	POLR1B	AXIN2	TP63	PHGDH	SF3B4	CYP17A1	DSP	MTX2	GJA1	UBE3B
HP_BRITTLE_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRITTLE_HAIR	KRT81	CDSN	CBS	KRT86	ERCC3	GTF2E2	ERCC2	RNF113A	SEC23A	TRNT1	RPS23	KRT25	GJA1	KRT83	ATAD3A	GTPBP2	ATP7A	SPINK5	BCS1L	DSG4	MPLKIP	SKIC3	NECTIN1	ZMPSTE24	SCUBE3	KRAS	GNPTAB	BRAF	ST14	SLC25A24	KRT71	PQBP1	OFD1	LIPH	CDH3	CARS1	KRT74	SKIC2	TARS1	PRR12	KRT85	GJB6	LPAR6	ATP6V0A2	EDA	MAP2K1	NFIX	ASL	GTF2H5	PORCN	MAP2K2
HP_MUTISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUTISM	VCP	CHMP2B	GRN	GRIN2A	FUS	GABBR2	CDKL5	HTT	GLE1	TBK1	NTNG1	SLC19A3	ATP1A3	C9orf72	COL1A1	CSF1R	CKAP2L	TBP	ADAMTS2	NDUFB11	SLC2A3	EHMT1	TCF4	KRAS	TARDBP	HNRNPA2B1	MAPT	SQSTM1	PLEC	ACTB	NDUFA6	SMARCA2	COX7B	SLC9A6	ADAMTSL2	TMEM106B	FGFR1	PRDM8	COL1A2	TREM2	HCCS	SMC1A	PIK3C2A	HNRNPA1	CHCHD10	FTL	GRIN1	PSEN1	MECP2	ACTG1	ASAH1	AMER1	PRPS1	SETBP1
HP_HEMIPLEGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMIPLEGIA	SLC1A3	SCN5A	GALC	ATP1A3	PRRT2	COL4A2	NOTCH3	PAH	CACNA1A	SMARCAL1	FGFR1	HLA-DPA1	PRTN3	STAT4	IRAK1	TBC1D24	SCN1A	ATP1A2	GNB1	DOCK8	NPPA	ARX	PRF1	COQ2	SUOX	CTC1	HLA-DPB1	PTPN22	SNORD118	ADA2	COL4A1	KRAS	GNAQ	CTLA4	SPP1	MT-CYB
HP_AKINESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AKINESIA	VPS35	DOK7	CHRNA1	CHRNG	CNTN1	NR4A2	TOR1A	DNAJC6	GBA1	PODXL	SNCA	ATP13A2	NUP88	TMEM240	GIGYF2	MYOD1	NEB	RAPSN	VPS13C	PANK2	KARS1	MAPT	SYNJ1	LRRK2	DCTN1	FGF14	EIF4G1	ERBB3	SLC18A3	MUSK	DNAJC13	DPAGT1	FXR1	TUBA1A	CP	FLVCR2	CHRND
HP_ATHETOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATHETOSIS	SLC1A3	NUP62	KCNA1	PHGDH	TSEN2	NDUFA9	WARS2	CACNA1A	SLC20A2	SH2B1	SCN1B	ADCY5	FBXL4	PC	CERS1	EIF2AK2	NGLY1	GCDH	GJC2	PDHA1	SLC16A2	IREB2	ST3GAL5	SETX	SLC2A1	SPTBN4	ERCC2	OPA3	FOXG1	COX20	HSD17B10	GRM7	FBXO28	EPRS1	GNAO1	PRRT2	PIK3R5	TSEN15	PNPT1	ELP2	CLPB	PLP1	HPRT1	DPYSL5	SYT1	SUCLG1	CACNA1B	ALDH18A1	ATN1	ACO2	CYB5A	HCFC1	IRF2BPL	ATP1A3	PYCR1	TUBB4A	NDE1	SLC17A5	AP1S2	ATP1A2	SLC25A22	DNM1L	MECP2	SLC6A8	MICOS13	ADAR	CDKL5	NDUFAF5	TSEN34	SCN2A	SUOX	PANK2	TOE1	PDE2A	PTS	VPS13A	DLAT	SCN8A	DCAF17	XPR1	UQCRQ	PDGFB	FRRS1L	TNR	GUF1	CYB5R3	ARX	CUX2	CACNA1D	GRIK2	TRIM8	GON7	ABCC8	GAMT	GTPBP2	ATM	PIGN	MICU1	STXBP1	XPA	HSPD1	MECR	NADK2	CASK	POU3F3	NDUFA13	NKX2-1	TSEN54	GCH1	PIGQ	PIGV	PNKD	GNAS	SCN1A	ATG7	ERCC6	DMXL2	AUH	DDC	GRIN1	MRE11	TMEM106B	PDGFRB	SMPD1	POLR3K	CHKA	MT-ATP6	MRPS34	SLC46A1	PIGP	UBA5	NEUROD2	KIF5A	ABHD16A	MED23	SPR	SLC30A9	TRAPPC11	RNASET2	QDPR	TWNK	MMUT	SUCLA2	NDUFA1	SHQ1	SLC25A42	POLG	FTL	UBQLN2	SIK1	SEPSECS	TIMM50	FOXRED1	PNKP
HP_CHIARI_MALFORMATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHIARI_MALFORMATION	SPRED1	DNAJC30	ERF	CTSK	SH2B1	VPS37D	IL11RA	MAF	FOXF1	FBN1	FGFR2	NOVA2	SLC39A14	FLNA	CDC45	CSF1R	HMGA2	SETBP1	METTL27	ELN	CREBBP	H3-3A	SETD2	POR	NOTCH3	SIK3	DNMT3A	TONSL	TBL1XR1	GTF2IRD1	POLR3B	ZEB2	FANCI	SF3B2	PIK3CA	MBTPS2	DKK1	SMARCA2	BUD23	DHDDS	SKI	TMEM94	NFIA	CHD4	SMO	KRAS	FGFR3	RFWD3	FGFR1	BAZ1B	PTH1R	POLR3A	STAG1	VANGL1	BCL7B	FUZ	MLXIPL	PPP1R12A	CWC27	NOTCH2	NCF1	DHCR7	SON	KANSL1	NFKB2	EIF4H	LEMD3	GTF2IRD2	PHEX	LIMK1	MAP3K7	MKS1	FKBP6	HRAS	RFC2	TBL2	TMEM270	GNAQ	RRAS2	GTF2I	PTCH1	NONO	TAOK1	TGFBR2	CLIP2	SALL1	BICRA	PORCN	DPF2	DACT1	STX1A	SC5D	TGFBR1	MAN2B1	PPP1CB	EP300	PAX2
HP_OROFACIAL_DYSKINESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OROFACIAL_DYSKINESIA	SLC6A3	PNPT1	ATXN7	MICU1	JAM2	CHMP2B	SLC35A1	COQ2	LRPPRC	CYP27A1	IREB2	PDE10A	PRKRA	SLC18A2	FGF14	AARS1	PANK2	FTL	MRE11	GNAO1	PRRT2	VPS13A	ADCY5	PLP1	EXOSC5	GBA2
HP_INCOORDINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCOORDINATION	STIM1	SLC25A1	SCN1A	ADCY5	FKRP	AASS	VCP	RPL10	GDAP2	PI4KA	CFL2	FA2H	POMT1	HTT	TSHB	MFN2	HAX1	FKTN	PANK2	OPA1	PLEC	TUBG1	TPM2	SETD2	SLC12A6	MORC2	PMP2	SGCG	STX1B	ARG1	ELN	ATL1	SYNE1	KCNC3	CLCNKA	SLC25A15	RRM2B	NEFH	SCN9A	SPTLC1	PLA2G6	SH3TC2	CLN8	ASAH1	RORA	ATP2B3	NEB	DCC	EEF1A2	PDE10A	POLR3B	TBC1D23	PAK3	CWF19L1	ADAR	COL6A1	DYRK1A	NTN1	TPP1	MTPAP	ABCA2	NUP62	TWNK	PEX1	GABRD	LRRK2	ATP1A3	GRIN2A	POLG	COQ2	CLN5	GMPPB	KBTBD13	CREBBP	SCN2A	SGCA	LMBRD1	CRPPA	MPZ	PMPCA	PSAP	RNU12	REEP1	ALG14	COL6A2	SLC6A8	NR4A2	HLA-DQB1	NIPA1	DYNC1H1	NEFL	MECR	GDAP1	PCDH19	NOP56	SCYL1	ACTA1	CCDC78	TCF20	CLTC	MTHFR	LYST	ATXN3	ACOX1	EED	ADGRV1	RAD51	CLCNKB	APC2	TTPA	MTR	UBE3A	CAPN3	PIK3R5	TTC19	DYM	CHD8	TTN	GLRA1	COL6A3	MYPN	MLXIPL	FHL1	ERCC4	CPLX1	TIA1	DAB1	MRE11	GJB1	BSCL2	VWA1	SCN1B	NOL3	PDE2A	EEF2	MAN2B1	KLHL41	VPS35	SYNGAP1	ALMS1	SLC25A4	TANGO2	KDM4B	CDC42BPB	GFPT1	SLC52A3	COL12A1	NUDT2	SCO2	ALG2	MAPT	NAA20	SNCA	KIF1C	ARSA	SMG9	COLQ	TBC1D24	ISCU	SLC39A14	COX20	HSD17B10	POLR3A	CHAMP1	ALG13	TGM6	SDHB	DNAJC13	ARHGEF2	POGZ	AFF2	GABRG2	TCF4	MTFMT	ABCD1	GRID2	ARL6	VPS13D	NSD1	KCND3	HEXB	RDH11	B4GALNT1	NIPA2	GIGYF2	ATXN10	CAV3	PYROXD1	EIF4G1	MT-TE	HEPACAM	DPAGT1	PRNP	DARS2	CCDC28B	FIG4	GALC	SLC18A2	EP300	ADSS1	SLC52A2	HLA-DRB1	LAMB2	MICU1	GCH1	SDHAF1	RNF168	HINT1	RPIA	BSND	SLC19A3	SLC22A5	SDHA	NKX2-1	TPM3	SPTBN2	CACNA1A	HUWE1	SLC2A3	ATP6AP2	MED13L	LZTFL1	SET	C19orf12	SIM1	SQSTM1	FRRS1L	CHP1	PEX16	RNF125	ATP7B	YWHAG	HADHB	CARS1	MT-ATP6	SDHD	GPHN	TAF1	GBA1	POLG2	HADHA	HCN1	KCNA1	DEAF1	DNAL4	PDCD1	ELP1	BBS1	SNRPN	PMP22	GALT	GABRA1	GRM1	TXN2	ATXN8OS
HP_CLUMSINESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLUMSINESS	KBTBD13	KLHL41	GALC	MPZ	PSAP	AASS	KDM4B	SLC52A2	SLC52A3	NR4A2	TIA1	MICU1	HTT	TSHB	SCO2	MECR	RNF168	PLA2G6	ARSA	HAX1	BSND	SLC22A5	TBC1D24	NKX2-1	SLC39A14	TPM3	ACTA1	PRNP	POLR3A	CLTC	SLC2A3	ALG13	ATXN3	TPM2	SQSTM1	MORC2	ACOX1	FRRS1L	PANK2	RNF125	ATP7B	AFF2	RAD51	SYNE1	CLCNKB	KCNC3	CLCNKA	TTPA	UBE3A	CAPN3	CWF19L1	CHD8	TTN	CLN8	TPP1	ASAH1	ATP2B3	NEB	DCC	KCNA1	MYPN	SDHA	PAK3	DEAF1	MAN2B1	CPLX1	NTN1	TWNK	MAPT	DNAL4	SNRPN	CLN5	CAV3	PMP22	GALT	GRIN2A	GJB1	HEPACAM	DARS2
HP_SPASTIC_PARAPARESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTIC_PARAPARESIS	SOX10	GALC	PLP1	SPART	CCDC88C	SPG7	SLC30A10	GJA1	CPT1C	CYP27A1	GJC2	SDHAF1	RNASEH2A	SPG21	PRUNE1	SLC25A15	PPP1R15B	BCOR	C19orf12	SDHA	OPA3	RNASEH2C	COASY	RNU7-1	FA2H	IFIH1	MED13L	SDHB	AIMP1	ABCD1	BTD	PEX16	SAMHD1	ARG1	ADAR	ALDH3A2	AFG3L2	WDR45	MAG	GOT2	SDHD	TTC19	GFAP	IDUA	GBA1	MICOS13	ATP6AP2	MTRFR	MTPAP	TREX1	LSM11	POLG	SELENOI	EDNRB	PNP	FAR1	TRMT10A	POLR3GL	RNASEH2B	MTHFR	TBCE
HP_DEGENERATION_OF_THE_LATERAL_CORTICOSPINAL_TRACTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEGENERATION_OF_THE_LATERAL_CORTICOSPINAL_TRACTS	ATL1	DCTN1	SLC33A1	SPG11	PRPH	CHCHD10	KPNA3	SPAST	RTN2	SPG7	FUS	CPT1C	NIPA1	SOD1	C9orf72	UBAP1	NEFH	VCP	TARDBP	TBK1	WASHC5	PLP1	SQSTM1
HP_HEADACHE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEADACHE	PMS1	NLRP3	RASA1	ZFTA	MT-ND4	CYP11B1	SDHB	SMARCE1	TREX1	MT-ND6	VHL	TET2	RNASEH2C	TLR4	DNMT3A	F8	MT-TC	CFH	CDKN1B	THPO	RRM2B	EPM2A	RASGRP1	MSH2	MT-TL1	FH	KCNJ5	SMO	YEATS2	CPT2	SLC2A1	AIP	SPOP	WT1	MAX	GP9	POLG	PDGFB	RNASEH2B	MT-CO1	PDCD10	GRIN2A	PRRT2	CDH23	MYO1E	PGK1	ESR1	PRTN3	NDP	USP8	MAGI2	LGI1	DNAI1	AMACR	BAP1	CTNNB1	MT-ND5	MEFV	NUP205	HLA-DPB1	MYL2	NLRP12	SLC1A3	NPHS1	TPM2	APC	MPL	MT-TK	CCND1	SDHD	PAX2	KCNA1	NF2	SMARCAL1	CDC73	CTNND2	MT-TS2	ACTN4	MT-TW	TRPC6	CSNK1D	HACD1	EPHB4	LIG3	NOP56	JAK2	USP48	SDHA	IL12A-AS1	MT-TQ	RET	SLC6A19	ERF	SLC25A4	STAT4	TLR7	OPA1	ADRA2B	ATP1A2	GP1BA	DEPDC5	TMEM127	GNB2	HLA-B	SMARCB1	MDH2	IL12B	CCM2	MLX	PIGT	SRSF2	CYP11B2	NUP93	FARSB	TBK1	MYORG	CLCNKB	APP	FLI1	COQ8B	SLC25A11	EPAS1	MARCHF6	ADAMTSL1	MSH6	TRAF3	KIF1B	PTPN22	TWNK	LSM11	SELENON	PEX11B	COL5A1	COL4A1	CACNA1D	BCAT2	NOTCH3	NOTCH2	IRAK1	ATRX	PRKCD	TRAF7	SMAD3	SQOR	VANGL1	DNM1L	BMPR1A	NUP107	ADA2	SEMA4A	MT-TF	ITGA7	KLRC4	CDKN1A	CD2AP	MEN1	MRPS2	SDHC	MSX2	MYD88	ACTA1	HLA-DPA1	GPR101	P4HA2	RELN	AMER1	UNC93B1	NFIX	FAS	ASXL1	DLST	IRF3	STARD7	SLC12A3	SH2B1	MAP3K20	ACP5	CACNA1A	KIT	GATA2	GCDH	CYB5R3	ANLN	MT-CYB	COL3A1	IL10	NF1	TNF	RACGAP1	RNU7-1	MVK	SOST	TBC1D8B	PTEN	TP53	MT-CO3	MT-TH	LRP5	ATP1A3	NPHS2	EDNRA	FAN1	GDF2	HLA-DRB1	ARHGDIA	TNFRSF1A	SH2B3	PTPRO	DKK1	GABRG2	SMAD4	SLC19A2	KRAS	FGFR3	SAMD12	CLTRN	CDKN2B	NFE2L2	CTLA4	CRB2	ALPK1	ERAP1	ACVRL1	NUP37	ZFHX2	SCN5A	TICAM1	HTR1A	NAGS	FGFR2	EMP2	PDGFRB	GAPVD1	MLH1	SCN1A	MT-TV	TWIST1	INF2	APOL1	ANKFY1	IFNGR1	AKT1	BRAF	ALX4	KIF23	SPP1	FASLG	PIK3CA	KRIT1	POLG2	CD46	NHLRC1	CFI	MECR	CNNM2	MT-ATP6	COL1A1	CNTN2	CDKN2C	RYR1	ENG	PRORP	GBA1	MAOA	GP1BB	COL5A2	SLC39A14	RNASEH2A	TERT	TLR3	TNFRSF11A	C4A	COL4A3	FLT1	IL12A	IL23R	PLCE1	CLCN2	HELLPAR	NR3C1	NPPA	FRMD5	ELANE	HTRA1	SRPX2	EPCAM	RPS20	AP2S1	STIM1	CORIN	TGFBR2	KCNK18	PMS2	PIGA	TPM3	NUP85	CCR1	KYNU	RNF168	KL	LPIN2	SUFU	MT-CO2	CASP10	IFIH1	MT-ND1	TTR	RELA	MLH3	SAMHD1	ADAR	STOX1	COPB1	FUZ	RNASEH1	NUP160	UBAC2	TGFB1	EPOR	JAG1	NUP133	ACSF3	VSX1	ARHGAP24	MTHFR	SDHAF2	DAAM2
HP_UNSTEADY_GAIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNSTEADY_GAIT	MGAT2	LCA5	HTT	HPDL	SCN8A	EEF1A2	SACS	DNM1	QRICH1	SAMD9L	GAN	GABRA5	KCNQ5	CACNA2D1	NECAP1	CDK19	PRNP	CACNA1B	CYP2U1	OPA1	NEFL	ERCC6	FGF13	ATP1A3	SGCA	SYNGAP1	ATXN8OS	DDHD1	MME	AP3B2	ATP7A	PDHX	CNKSR2	DHDDS	STUB1	ATP2B3	EIF2B3	EIF2B5	PDE10A	NTRK2	BSCL2	XYLT2	CWF19L1	CAMTA1	REEP1	PMP22	FGF12	PEX1	ACTL6B	NDRG1	KDM5B	SCN1A	BCL11B	AP2M1	CLN5	CREBBP	RNF170	MPZ	PMPCA	NEXMIF	CACNA1A	KIF1A	SLC38A3	CEP104	PAK1	DOCK3	RUSC2	YWHAG	FGD4	EXT2	GDAP1	RAB11B	ERCC8	STAG2	GLRX5	PPP2R5D	PPP3CA	SZT2	ATXN2	EIF2B1	NAT8L	VWA3B	MAPT	AIFM1	NF2	EIF2B4	HACE1	GABRB2	PLA2G6	RNASEH1	ATP1A2	POU4F1	PARS2	PEX2	RUBCN	DAB1	KCNA2	GABRA2	VAC14	SLC2A1	CIZ1	VPS41	DHX16	OPA3	NUDT2	CHD2	SYT14	TRPC3	CCDC88C	SCN3A	HERC2	VPS13D	DALRD3	DPM3	SUCLG1	MTFMT	EIF2B2	PACS1	CACNA1G	TPI1	CLCN4	SMS	ATXN10	DAG1	PEX10	WWOX	AARS1	PCNA	MAPK8IP3	TRAK1	SPATA7	ALDH4A1	GABRG2	HCN1	KCNB1	DCC	CLTC	DARS2	CHD3	EP300	ADSS1	RPE65	KIF1C	CRAT	GRIN2D	ATP6V1A	ATP6AP2	SLC13A5	DHPS	MAST1	MATR3	PEX16	MRE11	DCPS	PITRM1	LRAT	WLS	PPP2R2B	GABBR2	ARV1	CYFIP2	PRKRA	CELF2	SDHA	UBA5	DEAF1	NUS1	CLN8	SLC1A2	MCM3AP	FZR1	SYNJ1	ZSWIM6	OGDH	GARS1	PNPO	SLC6A1	GJB1	SHANK3	XRCC1	P4HTM
HP_CERVICAL_MYELOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVICAL_MYELOPATHY	NAXE	GALNS	COL2A1	NMNAT1	EXT1	ARSB	EXT2	GLB1
HP_VERTIGO	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERTIGO	PML	TRPM4	SDHB	IRF2BP2	CACNB4	ADA2	CACNA1A	GATA2	GCDH	FIP1L1	VHL	COL3A1	IL10	SLC12A3	JUP	TET2	NABP1	MVK	ATP1A2	ZBTB16	TMEM127	HLA-B	TLR4	MDH2	SLC26A4	DNMT3A	CALM1	C4A	TECRL	THPO	RET	IL12A	RYR2	STAT4	STAT5B	IL23R	CLCNKB	GLA	FLI1	CACNA1G	MEFV	FH	SDHC	NPM1	SLC25A11	GYG1	EPAS1	STAT3	HLA-DRB1	MPL	DBH	SH2B3	AIP	NPPA	DKK1	KIF1B	PTPN22	TPK1	MAX	MYL2	GCGR	PDGFB	JAK2	PRKAR1A	ERAP1	FOXI1	SCN5A	KCNJ10	CDH23	SCN2A	CASQ2	SLC1A3	CALM3	MEN1	CALM2	CCR1	NAGA	CTNNB1	IFNGR1	BRAF	COCH	KLRC4	CCND1	MYO7A	NF1	PRRT2	SDHD	NKX2-5	MYD88	MED12	CNNM2	KCNA1	TNFRSF1A	SDHA	RARA	UBAC2	EPOR	NUMA1	NF2	P4HA2	SCN1B	NOP56	BCOR	VSX1	TBL1XR1	RYR1	IL12A-AS1	FAS	DLST	TRDN	SDHAF2	SCN1A
HP_RESTING_TREMOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESTING_TREMOR	ATXN8OS	DNMT1	MAPT	VPS35	MICU1	SNCA	POLG	SLC25A4	ADCY5	EIF4G1	GABBR2	OPA3	COQ2	NR4A2	CYP27A1	CDKL5	TBP	ADH1C	DNAJC6	GCH1	GIGYF2	PLA2G6	NTNG1	PARK7	PSAP	PINK1	ATP1A3	ATP6AP2	MECP2	MT-TT	MAN1B1	FMR1	DNAJC13	GBA1	RRM2B	LRRK2	ATXN2	CACNA1G	TAF1	POLG2	PODXL	SMC1A	GLUD2	VPS13C	UQCRC1	TWNK	FTL	RAB39B	SYNJ1	SNCAIP	ALDH18A1	VPS13A	KCNN2	ATP13A2	CHCHD2
HP_ANENCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANENCEPHALY	CPLANE1	CSPP1	FANCB	TBC1D24	VANGL1	FUZ	SEC24C	CEP290	B9D2	KIF7	RPGRIP1	TBXT	RNASEH2A	FIG4	TXNDC15	HYLS1	HIRA	RNASEH2C	TCTN2	TBX1	KIF14	B4GAT1	RNU7-1	MKS1	GPKOW	IFIH1	TCTN3	TMEM107	TMEM237	TMEM216	SAMHD1	CC2D2A	ADAR	FLVCR2	TMEM67	DACT1	GLI3	GP1BB	ARVCF	CHD7	JMJD1C	KIAA0586	NDE1	TRIM36	B9D1	RREB1	CCL2	TBX15	ATP6V1B2	WDR81	TREX1	VANGL2	LSM11	PHGDH	HOXD13	CEP55	RPGRIP1L	SNRPB	TCTN1	VAC14	NUAK2	COMT	UFD1	RNASEH2B	TMEM231	SMOC1	SF3B4
HP_HYDRANENCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYDRANENCEPHALY	SNRPB	WDR81	NDE1	GPKOW	FLVCR2	PHGDH	CEP55	TBX15
HP_TRANSIENT_ISCHEMIC_ATTACK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRANSIENT_ISCHEMIC_ATTACK	TGFB3	TBX20	ABCC6	TLL1	NOTCH3	GATA6	KRAS	LOX	FOXE3	COL3A1	MYH6	CITED2	SON	MYLK	GLA	TGFBR1	JAK2	TP53	NKX2-5	MFAP5	TGFB2	TGFBR3	ACTC1	ANGPTL6	THPO	MPL	ACTA2	MYH11	HEY2	TET2	ADAMTS13	ACVRL1	PRKG1	ACTB	CALR	SMAD2	MAT2A	HTRA1	SMARCAL1	SH2B3	ENG	GDF2	FBN1	ZMPSTE24	RNF213	SMAD4	THSD1	ELN	ACTG1	GATA4	TGFBR2	LMNA	ENPP1	MYBPC3	SMAD3
HP_DROWSINESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DROWSINESS	CHRNE	NAGS	SLC25A13	GFAP	KCNJ11	THRA	NDUFS8	CHRNB1	PDHA1	CHRNA1	SPR	ABCC8	DOK7	KIF1A	SLC19A3	SCN4A	PIGG	LRP4	MAN2B1	SLC13A3	UCP2	MTRR	CACNA1A	FBP1	CHRND	HNF1A	AK9	HNF4A	PTS	RAPSN	ZNHIT3	HCRT	ATP1A2	COL13A1	MT-CYB	AGRN	LONP1	MUSK
HP_RECURRENT_PAROXYSMAL_HEADACHE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_PAROXYSMAL_HEADACHE	SDHD	MT-ND4	MT-ND6	NF1	SDHB	MT-ND5	SDHC	MT-TH	MT-TL1	FH	VHL	SLC25A11	EPAS1	MT-CO2	TMEM127	MT-TS2	DKK1	KIF1B	MAX	MDH2	MT-CO3	DNMT3A	MT-CO1	SDHA	MT-TW	MT-TF	MT-TQ	RET	DLST	SDHAF2	MT-ND1
HP_LACK_OF_PEER_RELATIONSHIPS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACK_OF_PEER_RELATIONSHIPS	SLC6A1	SCN1A	NEXMIF	CHD2	NLGN3	MECP2	AP2M1	NLGN4X	SYNGAP1	SLC2A1
HP_MOTOR_DETERIORATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOTOR_DETERIORATION	CLN6	SDHA	RBM28	PRKAR1B	SDHD	NOTCH3	CLN5	PAH	TK2	PLEKHG4	SDHB	GRIN2A	HGSNAT	FRRS1L	SDHAF1	GALC	CLN8	MECP2
HP_ABNORMAL_CEREBELLAR_VERMIS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CEREBELLAR_VERMIS_MORPHOLOGY	PIGN	CEP290	TSEN2	WDR4	MEF2C	SEMA3E	ODC1	TMCO1	HTT	CUL4B	KIAA0753	CPLANE1	RPGRIP1	GPC4	DAB1	HYLS1	CPT2	B9D2	ZIC1	BMP4	VPS41	SMARCB1	OPA1	ASXL3	DYNC2I1	WASHC5	B4GAT1	SMARCE1	SETD2	TMEM240	FAR1	FKRP	PGAP1	WDR35	FLVCR2	DPYSL5	ATXN8OS	ASXL1	IQCB1	ATP6V1A	PLG	VPS51	RNF113A	ARL3	CBY1	FOXC1	SMARCA4	PSAT1	ATP2B3	LETM1	TMEM67	CACNA2D2	ZEB2	CWF19L1	GRM1	POMK	TMEM237	RBM10	CSPP1	TMEM138	TAF1	HNRNPR	DAG1	POMT2	FDXR	ARID1B	TCTN1	MUSK	RDH12	TUBA1A	ADGRG1	KRAS	CRB1	POMT1	DYNC2H1	TOPORS	VPS4A	LARGE1	TRIP13	DPH1	WARS2	TMEM218	ATP6V0A2	TSEN54	SCYL1	MACF1	QARS1	FA2H	MKS1	SRD5A3	C2CD3	NPHP3	CC2D2A	KIF7	KIAA0586	NCAPG2	DPH5	APC2	ARID1A	COG1	POLR3A	CEP41	ATN1	EBF3	MME	COL4A1	INPP5K	ATR	ACY1	SUFU	PRDM13	ATP6V1B2	WDR81	POMGNT2	EBP	EVC2	MRE11	FIG4	PRKDC	NOP56	TUBB	TRRAP	CEP120	PLP1	SMARCD1	MID1	RXYLT1	PPP1CB	CRPPA	LCA5	FTO	PDE6D	NRAS	L1CAM	PCGF2	BUB3	SEPSECS	RERE	SRPX2	KIF1A	STXBP1	KCNJ13	TMEM216	CHD7	COX20	TCTN3	CDKN1C	ARHGEF2	FRMD4A	OFD1	PTEN	PACS1	THOC2	EXOC2	GOT2	INPP5E	NSD1	SEMA6B	ZNF423	CACNA1G	SACS	CENPF	GMPPB	TULP1	GPC3	CCDC32	TSEN34	B4GALT1	CCDC22	MTM1	FKTN	LRAT	DOK7	KNL1	RPGRIP1L	DCHS1	SIL1	ALX4	TCTN2	HRAS	RAB3GAP2	ARF1	PMPCA	SOX11	LRRC32	LAMA1	AHI1	EXOSC8	RFC1	RAB3GAP1	TRAPPC9	HNRNPH1	PTF1A	KCNQ1OT1	BUB1	VPS35L	PCYT1A	KATNIP	TUBB2B	CPSF3	CACNA1A	AFF3	AIPL1	SPATA7	TXNDC15	MYOD1	PRKCG	CSF1R	PLCH1	XRCC4	TMEM107	CEP164	RAB18	MBD5	SMG9	THG1L	PIBF1	ARMC9	RPE65	ITPR1	GJB2	BUB1B	TMEM231	PI4KA	PMM2	IFT80	MARS2	GRIA3	TBC1D20	FAT4	CDC42	RARS2	LAMB1	RNU12	PPP1R21	MAPKAPK5	CNTNAP2	GTPBP2	NUP88	DHCR7	IFT140	BRF1	RAB11B	TUBB3	ATXN1	RAC1	RD3	GEMIN4	PPFIBP1	ARL13B	IGF2	OPHN1	POMGNT1	WDR73	ALG3	BLTP1	IFT172	IMPDH1	TUBB4B	DYNC2I2	B9D1	SMARCC2	PHGDH	FGFR1	NPHP1	TFAP2A	USP45	MPL	EPG5	KCNQ1	HHAT	EVC	GLI3	TBC1D24	CDC42BPB	CEP57	ATP6V1E1	SETX	DYNC1H1	TRPC3	DENND5A	MYO5A	SLC35A2	PIK3R5	TOGARAM1	NUP37	TSEN15	LMX1B	SOX4	B3GALNT2	NSRP1	RBM8A	H3-3A	GRID2	MAN2C1	AP1S2	NEK1	INTS1	CEP104	SLC25A24	PIEZO2	GJB6	ARID2	GDF6	GUCY2D	MVK	BCOR	POLR3B	NMNAT1	USP9X	SLC39A8	MAST1	SYT2	TBCK	CHP1	DPF2	SLC18A3	TDP1	DLG4	PEX16	PIGU	MDH1	CRX	WLS	ESCO2	MAB21L1	RNU4ATAC	PUM1	RAPSN	PIGS	FAM149B1	ADPRS	SLC25A19	GJB1	PAFAH1B1
HP_AGENESIS_OF_CEREBELLAR_VERMIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGENESIS_OF_CEREBELLAR_VERMIS	CEP290	FKRP	ALX4	MEF2C	PDE6D	PTF1A	B4GAT1	INPP5E	TFAP2A	TMEM216	ZEB2	RNU4ATAC	MVK	TCTN3
HP_ABNORMAL_CAUDATE_NUCLEUS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CAUDATE_NUCLEUS_MORPHOLOGY	MT-ATP6	NDUFS2	TUBB2B	NEK1	HTT	GCDH	JPH3	DCX	NDUFB8	SURF1	FOXP2	ADAR	NDUFAF5	TYROBP	SCO2	NDUFAF3	OPHN1	COASY	NUP62	FTL	VPS13A	TREM2	SLC2A3	TIMM8A	ATP13A2	BSCL2	TUBB3
HP_CAUDATE_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAUDATE_ATROPHY	OPHN1	FTL	NEK1	HTT	VPS13A	TREM2	SLC2A3	TIMM8A	JPH3	BSCL2	FOXP2	NDUFAF5	TYROBP
HP_CERVICAL_CORD_COMPRESSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVICAL_CORD_COMPRESSION	COMP	NFIX	CREBBP	IDUA	RMRP	EXTL3	EP300	IDS	ARSL
HP_INTELLECTUAL_DISABILITY_MODERATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTELLECTUAL_DISABILITY_MODERATE	HNRNPK	HPRT1	SYNGAP1	MAN1B1	WDFY3	SPATA5	SNRPN	FGFR2	PPM1B	CUL4B	SLC16A2	RBMX	COG5	SRCAP	KLF13	KIF5A	PTDSS1	TBC1D24	PRMT7	PIGY	SMARCB1	ASXL3	TTI2	L1CAM	SETD2	COQ8A	PIGV	INPP5E	PGAP1	DMXL2	SOX4	ANK3	CDK5RAP2	MAGEL2	PREPL	SLC35A3	TWIST1	RTTN	THOC2	TCF4	NSD1	CACNG2	DNMT3A	CLCN4	PUF60	SMARCA4	RDH11	HMGCL	TOR1A	WDR62	NCAPD2	NHS	LAMA1	CWF19L1	SHMT2	NDUFAF5	PLP1	PTRH2	NFIX	EBP	CAMKMT	AKT1	PGAP2	TAF1	EGF	FGFR3	UROC1	KDM5B	GRIA3	GRIN1	ARID1B	CHRNA7	MT-TE	ADCY5	DPAGT1	ARX	PAX1	SCN1A	OCA2	PRPS1	SETBP1	SMOC1	FAT4	ANKRD11	FTSJ1	POLR3A	ARID2	TMEM70	MAB21L2	SLC3A1	GTF2E2	SATB2	TMEM67	ZNF711	CWC27	CNTNAP2	NCAPH	RPGRIP1L	UBE2A	NSUN2	CASK	FBLN1	WARS2	PCDH19	YY1	DCHS1	KANSL1	PGM3	STAG2	OPHN1	PIGW	SLC45A1	TBCD	SARS1	POLR3B	NDN	PPP2R5D	USP9X	VPS16	PGAP3	MECP2	TGM6	MED13L	DPF2	PIGO	PSPH	SMARCE1	SOX11	APC2	ARID1A	COQ4	COG1	CDH11	GRIN2A	ALX4	FOXP1	RNU4ATAC	MED12	CPLX1	COL1A2	MED25	CENPJ	AP1S2	SMARCC2	FMR1	APC	HYCC1	ENTPD1	CC2D2A	GLUD1	SMARCD1	SHANK3	XYLT1	RSPRY1	EXT2	PIGL	PDE2A	ZBTB11	IL1RAPL1
HP_PROGRESSIVE_NEUROLOGIC_DETERIORATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_NEUROLOGIC_DETERIORATION	SLC1A3	IDUA	ITM2B	CYC1	ALDH18A1	GALC	ERCC6	PSAP	RAB27A	SYNJ1	VCP	CNTNAP2	MICOS13	CERS1	LMNB1	TREX1	CYP27A1	SDHAF1	MCOLN1	ARSA	CACNA1A	KCTD7	SDHA	SLC39A14	ERCC8	TIMMDC1	GCH1	GRN	HNF4A	SDHB	BSCL2	HIBCH	HSD17B10	PMPCA	TINF2	CTNS	GLB1	NAGLU	SDHD	NDUFA6	EPM2A	ATP1A3	SUMF1	LRPPRC	GBA1	NHLRC1	KARS1	RNU4ATAC	SLC13A3	QDPR	PTS	RRM2B	HEPACAM	HEXB	PDGFRB	ATP1A2
HP_ACTION_TREMOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACTION_TREMOR	FXN	VLDLR	RFC1	KCNK4	GJC2	SACS	MT-ND2	QRICH1	ATP2B3	MFN2	KCND3	ATCAY	FGF14	SNCA	PRDX3	PSAP	SPG11	NKX6-2	MT-CO3	MT-ND6	ERCC6	FMR1	PLP1	UCHL1	PPP2R2B	THG1L	KCNC3	MAG	ANO10	ATN1	SCN9A	MT-ND4	NOTCH2NLC	ITM2B	ITPR1	SLC25A46	PRKRA	CWF19L1	CAMTA1	PMM2	TPP1	FBXO7	XPNPEP3	MT-CO1	MT-ND1	WARS2	DRD3	NDRG1	UROC1	LEMD2	RARS1	GTF2H5	SCARB2	HIBCH	COQ2	VPS13A	SLC6A17	POLR3A	CTDP1	MPZ	RNU12	TMEM70	CARS2	VAPB	MT-ND5	NR4A2	NGLY1	PLA2G6	PARK7	POLR3B	SCP2	SPTLC1	MPLKIP	AMACR	PCDH19	ERCC8	TBP	SCYL1	ATXN1	MT-CYB	KNSTRN	FARS2	FUS	PIK3CD	ATXN2	TH	TUBB4A	MYBPC1	VWA3B	POU4F1	GTF2E2	BRAT1	TMCO1	FLVCR1	TMEM106B	MT-ND4L	ELOVL4	LMAN2L	ATP6AP2	ABHD12	LMNB1	IMPDH2	MRE11	NOP56	PNPLA6	TENM4	SCN1B	PTEN	ALDH18A1	PIK3CA	COL6A3	ERCC3	MAOA	BSCL2	AARS1	KCNJ10	SPTBN1	OPA3	EIF2AK2	SETX	KIF1C	ARSA	SMG9	RILPL1	CCDC88C	ANO3	EPRS1	DNAJC30	TGM6	CACNA1C	PIK3R5	PMP22	GSS	ABCB7	TARS1	CACNA1G	SEMA6B	PIGA	CLCN2	NDUFS2	SCN1A	POLG	LAMA1	TMEM240	ATXN10	GCH1	CARS1	IFRD1	TPK1	PEX10	GABRG2	PI4KA	ALS2	UFC1	PRICKLE1	TMEM63A	NIPA1	KCNN2	REEP2	SLC9A1	SCN2A	ERCC2	RNF113A	CSTB	SLC30A10	ATM	JPH3	SLC19A3	OPHN1	NKX2-1	HYCC1	SPTBN2	CACNA1A	ATP13A2	NFASC	YWHAG	PPP1R15B	PITRM1	MT-ATP6	TECR	TSPOAP1	NONO	TK2	SIGMAR1	STUB1	ADPRS	AFG3L2	GALT	CYP7B1	GABRA1	GJB1	DNAJC19	HSD17B4	AKT1	ACBD5
HP_HEAD_TREMOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEAD_TREMOR	DNMT1	GBA2	TRIM8	NKX6-2	ITPR1	CACNA1G	NOTCH2NLC	SETX	SH3TC2	AARS1	SPTBN1	CEP104	EIF2AK2	GJC2	KIF1C	LAMA1	SIGMAR1	SCP2	SPTLC1	ALS2	LMNB1	STUB1	ANO3	IFRD1	AFG3L2	PI4KA	NEFL	SPG11	NOP56	FUS	PEX6	KCNN2	PIK3R5	PLP1	HIBCH	VPS13A	TMEM63A	UCHL1	PPP2R2B	CIZ1
HP_FOCAL_AWARE_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_AWARE_SEIZURE	NPRL2	TICAM1	SCN2A	SCN9A	TBK1	GJC2	RELN	SCN1A	LGI1	MICAL1	PLPBP	PCDH19	DEPDC5	TRAF3	GAL	ALDH7A1	GABRG2	TLR3	SUPT16H	UNC93B1	GABRA1	GRIN2A	FRRS1L	SCN1B	CPA6	NPRL3
HP_CEREBELLAR_CYST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBELLAR_CYST	PIGN	TSEN2	FKRP	SEMA3E	POMT1	AFF3	RPGRIP1	VRK1	TXNDC15	MYOD1	HYLS1	FKTN	B9D2	ZIC1	B3GALNT2	TCTN2	SMARCB1	CSF1R	DYNC2I1	WASHC5	B4GAT1	PLCH1	SMARCE1	TMEM107	CRPPA	PLG	FAR1	WDR35	FLVCR2	DPYSL5	SMG9	DPH1	ASXL1	ATP6V1A	VPS51	RNF113A	ARID1B	SLC25A46	SMARCA4	DYNC2H1	GJB2	CPT2	BUB1B	TMEM231	GRM1	POMK	AHDC1	EBP	IFT80	DAG1	TMEM138	PMM2	SNX14	GRIA3	TCTN1	MUSK	NPHP3	EXOSC8	TUBA1A	KRAS	CDC42	EXOSC9	TRIP13	CEP290	GTPBP2	NUP88	DHCR7	POMT2	ATP6V0A2	TSEN54	MKS1	GMPPB	C2CD3	TMEM237	KIF7	KIAA0586	TMEM216	LARGE1	POMGNT1	CSPP1	ARID1A	IGF2	POLR3A	OPHN1	WDR73	ALG3	BLTP1	TMTC3	ARMC9	COL4A1	DYNC2I2	B9D1	DOCK6	ATP6V1B2	WDR81	POMGNT2	SMARCC2	EVC2	PHGDH	FGFR1	TUBB	CEP120	KCNQ1	EVC	SMARCD1	MID1	GLI3	RXYLT1	PPP1CB	FTO	NRAS	EXOSC3	TBC1D24	BUB3	CEP57	B4GALT1	ATP6V1E1	AGTPBP1	DENND5A	CHD7	TCTN3	SLC35A2	OFD1	CDKN1C	TSEN15	SOX4	TMEM67	PDHA1	AP1S2	GPC3	LAMA1	TSEN34	CCDC22	ZSWIM6	MTM1	GJB6	LONP1	ARID2	DOK7	GPC4	BCOR	USP9X	HRAS	DPF2	SLC18A3	SOX11	COL3A1	ESCO2	MAB21L1	PIEZO2	RAPSN	CC2D2A	KCNQ1OT1	BUB1	SEPSECS	RPGRIP1L
HP_LEUKOENCEPHALOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEUKOENCEPHALOPATHY	AMPD2	HIKESHI	EOGT	WARS2	NDUFB10	ODC1	RPL10	ACP5	SAMHD1	PC	DPM3	B3GALNT2	SPG11	OPA1	POLG	SNORD118	MT-ND1	OCRL	CTBP1	DLL4	NDUFAF2	SPATA5L1	UBA1	EDEM3	PSAP	AP4B1	NDUFS4	PDHB	FGFRL1	HMGCL	CNBP	EIF2B3	TET3	EIF2B5	ISCA2	DOCK6	LIPT2	SUMF1	MARS2	NUBPL	TREM2	CNP	GTF2H5	ACTA2	NFE2L2	CLN5	HK1	CDC42	NRCAM	YME1L1	MMACHC	LAMB1	NDUFC2	POMT1	TMEM70	PMPCB	NOTCH2NLC	NOTCH1	CNTNAP2	LMNB1	LARGE1	NDUFS7	ATP13A2	PAK1	POMT2	SCP2	EARS2	ABCD1	MPLKIP	BRF1	GALC	CNKSR2	NDUFA11	NDUFA6	ARHGAP31	TREX1	EIF2B1	NDUFA1	NMNAT1	CYP27A1	GTF2E2	RNU7-1	EIF2B4	NEUROD2	DEGS1	PPFIBP1	FKRP	COA8	DDHD2	GM2A	FARSA	NDUFV2	NDUFS8	AARS1	NDUFB9	PLAA	TPRKB	LIG3	MLC1	PRORP	NDUFB3	DARS1	COA7	ALDH18A1	DPM2	ERCC3	LETM1	CPLX1	SEPSECS	NAXE	ABCC9	NDUFS2	COL4A1	STXBP1	NDUFAF8	NDUFAF5	ARSA	MORC2	NDUFV1	RTTN	GNB2	FA2H	TSEN54	KARS1	HEPACAM	TYMP	L2HGDH	MRPS22	MT-ND3	NSD2	TIMMDC1	LMX1B	TMEM222	SUCLG1	EIF2B2	AP4M1	FOXRED1	RRM2B	AP5Z1	TMEM126B	TARS1	RAC1	FCSK	HTRA1	CLCN4	RBPJ	CLCN2	COLGALT1	PDHA1	GMPPB	TTC5	NRROS	CARS1	ACTL6B	TRMT1	CLPB	GJC2	CTC1	NOTCH3	CDK13	SELENOI	USP7	NDUFAF1	RFWD3	NDUFS1	MT-ND2	KCNN2	MEF2C	LONP1	OGDHL	RAB3GAP2	ERCC2	RNF113A	NDUFS3	SON	VPS11	SURF1	SUGCT	DARS2	STRADA	RPIA	SDHAF1	CSF1R	DNM1L	MT-TN	PRNP	CLN6	AUH	TBCK	MPV17	HIBCH	NFU1	SSR4	LAMA1	PDHX	AARS2	NDUFS6	NDUFAF3	AIFM1	PRR12	AP4E1	SDHA	KIF5A	ABHD16A	GFAP	PUF60	NDUFB11	AP4S1	TYROBP	RNASET2	NDUFAF4	ALG8	LYRM7	SHANK3	CA2	ARID2	MTHFR
HP_MEMORY_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEMORY_IMPAIRMENT	PMS1	MT-ND4	SMARCE1	TREM2	TYROBP	SLC20A2	ADA2	PAH	TREX1	HTT	IL10	GRN	PRNP	CTSH	C9orf72	SPG11	PRKAR1B	TLR4	TUBG1	FMR1	ZNF365	MAPT	APP	VCP	STAT4	TP53	ATN1	POLG	UGT1A1	DNMT1	MSH2	MT-TH	MT-TL1	FAN1	EIF2B3	SMO	EIF2B5	MEN1	CAMTA1	PRKCG	KRAS	XPR1	PDGFB	PIDD1	CP	ERAP1	APOE	MMACHC	P2RY11	CHMP2B	GRIN2A	MOG	NIPA1	MLH1	USP8	ABCD1	TOMM40	BAP1	IFNGR1	ATXN1	AKT1	ATXN3	EIF2B1	YY1	PIK3CA	NF2	TTPA	EIF2B4	CLN3	MT-ND6	SLC25A13	HLA-DQB1	SQSTM1	GOSR2	POU4F1	CDH23	MT-TS2	TNFSF4	USP48	SPG7	PSEN1	GSN	VAMP1	IL12A-AS1	MT-TQ	PRORP	HCRT	MT-ND5	PSEN2	CYLD	TERT	HLA-B	SMARCB1	PDE8B	MT-CO1	C4A	PSAP	ABCA7	IL12A	EIF2B2	PRKAR1A	PDE11A	IL23R	MYORG	TMEM106B	MEFV	BRAF	ECM1	NR3C1	NIPA2	MSH6	RRM2B	SPAST	TWNK	EPCAM	RPS20	NOTCH3	HLA-DRB1	FGF14	SIM1	REEP2	AMACR	GNE	TGFBR2	FAR1	HMBS	SORL1	ALDH18A1	PMS2	JPH3	ATRX	PRKACA	CCR1	TRAF7	SUFU	MT-CO2	CSF1R	ARSA	BMPR1A	SLC2A3	SEMA4A	MT-TF	MLH3	NF1	KLRC4	PDGFRB	ARMC5	MYD88	RNASEH1	UBAC2	STUB1	AFG3L2	GNAS	MT-CO3	ACSF3	MT-TW	TIA1	FAS	MT-ND1
HP_DIFFICULTY_WALKING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFICULTY_WALKING	PLP1	SMARCE1	FKRP	SPART	NACC1	MYOT	VCP	CYP27B1	MTMR14	PI4KA	SCN8A	FA2H	EEF1A2	POMT1	SACS	DNM1	HTT	LRP12	GAN	GABRA5	GBF1	FKTN	CACNA2D1	NECAP1	CDK19	RNASEH2C	CACNA1B	CSF1R	SPG11	ATP13A2	RNU7-1	NKX6-2	RTN2	MT-ATP6	MT-CO3	COL13A1	ERCC6	FGF13	SETX	MORC2	PMP2	MSTO1	TTBK2	ADCY5	ATP1A3	SYNGAP1	KCNC3	AP3B2	CNKSR2	SLC18A3	SH3TC2	DHDDS	ASAH1	PRX	SORD	NEB	NDUFS8	SMO	FBXO38	NTRK2	TBC1D23	PUS3	GNS	ERCC4	DNM1L	TPP1	TRAPPC11	DNA2	ERCC8	FGF12	COL6A3	FTL	SLC5A7	ACTL6B	DMD	PDGFB	COL12A1	KY	RNASEH2B	SGCD	GMPPB	MYH7	KBTBD13	SBF2	FLRT1	MIEF2	NPR3	CRPPA	MPZ	KPNA3	HK1	RNU12	CACNA1A	ALG14	DYSF	SPG21	SLC38A3	CPT1C	ERLIN1	VAMP1	GLE1	WARS2	YWHAG	FDX2	ORAI1	PNPLA2	ABCD1	SPTLC1	BAP1	RAB11B	ACTA1	AKT1	FUS	PPP3CA	COL6A2	SZT2	BVES	ACOX1	WARS1	CYP27A1	ABHD5	DDX6	POLG2	HACE1	MECP2	NF2	POMT2	PDK3	CAPN3	DYM	KLHL41	TTN	GABRB2	FHL1	ANO5	PMP22	MYPN	EIF2S3	ATP1A2	AARS1	GPAA1	TMEM251	GOSR2	SLC30A9	HPCA	PARS2	TIA1	TREX1	CHCHD10	NOP56	HSPB1	BIN1	GJB1	PGAP1	KCNA2	BSCL2	MYO9A	GABRA2	GYG1	CYP2R1	CIZ1	GBA2	SNAP25	DLAT	CDKL5	CCN6	GFPT1	RARS1	GAA	NOTCH2NLC	ALG2	DES	RNASEH2A	STRADA	LRP4	PIK3CA	ISCU	TERT	ALAD	COASY	SMARCB1	AP4B1	SCN3A	RYR1	IBA57	KLHL9	TRPV4	TGM6	TPM2	KLC2	PEX6	PSAP	DALRD3	MYO1H	AP4M1	CRYAB	MTRFR	ELOVL5	SGCB	REEP1	YARS1	SLC25A1	KCND3	CHAT	AOPEP	GIPC1	LPIN1	B4GALNT1	NUBPL	DDHD1	SLC7A6OS	HSPB3	DAG1	HERC1	TPK1	GJC2	PLEKHG5	FLNC	MFN2	LSM11	WWOX	INTS1	MATN3	TK2	GPT2	FGF14	ALS2	TRAK1	GABRG2	HCN1	DPAGT1	GRID2	KCNB1	CLTC	DARS2	CDK8	PYCR2	MICU1	SLC30A10	UBAP1	ARL6IP1	MYF6	TRAF7	WASHC5	SUFU	AGRN	MARS1	GRIN2D	SLC25A19	PKP1	TPM3	C19orf12	NTRK1	ARSA	MARCHF6	ARSI	SURF1	BICD2	USP9X	IFIH1	ATP6V1A	ERCC1	SLC2A3	WDR48	SLC13A5	SQSTM1	MATR3	DHTKD1	SAMHD1	ATP7B	ADAR	TCAP	ATP5MC3	GALC	CAPN1	FUZ	AP4E1	GABBR2	DNM2	ARV1	CYFIP2	TAF1	KCNJ10	CELF2	SLC34A3	UBA5	SIGMAR1	NUS1	MED25	AP4S1	SYT2	SLC1A2	STUB1	FZR1	SYNJ1	NKX2-1	COL6A1	RSPRY1	VDR	EIF2AK3	MT-CO1
HP_WRITER_S_CRAMP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WRITER_S_CRAMP	COL6A3	KCNA1	CASR	AOPEP	TBP	TOR1A	GCH1	HINT1	KCTD17	DRD2	TBC1D24	FTL	VPS16	SGCE	KCNN2	PLP1	PRRT2	GNA11	THAP1	CIZ1
HP_FREQUENT_FALLS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FREQUENT_FALLS	STIM1	SLC25A1	MYPN	VPS35	ADCY5	FKRP	VCP	SLC25A4	RPL10	GDAP2	PI4KA	CFL2	GFPT1	FA2H	POMT1	COL12A1	NUDT2	SCO2	ALG2	MAPT	MFN2	SNCA	KIF1C	ARSA	SMG9	COLQ	FKTN	PANK2	ISCU	COX20	OPA1	PLEC	TPM2	SLC12A6	SDHB	PMP2	PSAP	SGCG	DNAJC13	ARHGEF2	ARG1	ATL1	RRM2B	NEFH	SPTLC1	VPS13D	SH3TC2	ASAH1	ATP2B3	PDE10A	POLR3B	B4GALNT1	CWF19L1	ADAR	GIGYF2	COL6A1	MTPAP	NUP62	TWNK	PEX1	LRRK2	PYROXD1	EIF4G1	POLG	MT-TE	COQ2	DPAGT1	PRNP	GMPPB	FIG4	SGCA	GALC	CRPPA	MPZ	RNU12	REEP1	ADSS1	ALG14	GRIN2A	COL6A2	LAMB2	NEB	DYNC1H1	MICU1	NEFL	SDHAF1	HINT1	SLC19A3	GDAP1	SDHA	TTN	SCYL1	NKX2-1	CCDC78	ATP6AP2	C19orf12	CHP1	PEX16	MRE11	HADHB	MT-ATP6	SDHD	PIK3R5	DYM	GPHN	GLRA1	TAF1	GBA1	POLG2	HADHA	COL6A3	FHL1	CLN8	DAB1	PMP22	ACTA1	GJB1	BSCL2	VWA1	GRM1	TPM3	NOL3
HP_SLEEP_DISTURBANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLEEP_DISTURBANCE	DEPDC5	TSEN2	WDR4	SMARCE1	ARSB	ZIC2	CTSK	NACC1	VPS37D	SH3BP2	HTT	NKX2-1	CTCF	ASCL1	CDKL5	PLCH1	NSDHL	DEAF1	NEFH	MFN2	IDS	SLC2A1	PRNP	TIMELESS	SNCA	TGIF1	GNE	NEFL	ASXL3	NODAL	EIF3F	FBXO28	EHMT1	PRKN	FBXL3	CAMK2A	RET	ZNF365	SIX3	ASXL1	DNA2	MAGEL2	ATP1A2	VPS51	ARL3	DHCR7	EPM2A	NAGLU	SPIB	DNMT1	TCF4	SMO	PPT1	IDUA	ZEB2	MEN1	WAC	ATP7B	ERCC4	NALCN	KAT6A	SEPTIN9	DLL1	SPOP	SCN2A	SKI	BMP2	UNC80	LARP7	SMC1A	TAF1	LRRK2	GAS1	PHIP	GRIN1	MFSD8	SYNJ1	MUSK	COQ2	TUBA1A	STIL	SHH	MED12L	CREBBP	MLXIPL	SATB2	FOXH1	VPS4A	GRIN2A	FGF8	P2RY11	RPS6KA3	MOG	NDP	ADGRL1	POU3F3	BAP1	CABP4	TSEN54	CTNNB1	KIF11	PIGQ	FARS2	FBP1	TCF20	MYL2	CRY1	DCTN1	FKBP6	AGA	ARNT2	DMXL2	SOD1	FLII	HDAC4	UBE3A	TPM2	ATAD3A	HRAS	IL12RB1	UCHL1	DPH5	RNU7-1	SOX3	CHKA	DMD	MECP2	NF2	CHD8	ATN1	COA8	HDC	LRPPRC	RAI1	RUNX2	IL12A	SETD1A	CDON	GATAD2B	CSNK1D	SGSH	LTBP3	GNAI3	GLI2	IMPDH2	CLIP2	HACD1	SUPT16H	TNFSF4	BICD2	HMGCL	ERCC6	NDN	SIK1	HCRT	PDE2A	ATAD1	RAD21	VPS35	POU2AF1	PRKAR1B	SYNGAP1	PCGF2	FGFR1	PER2	SEPSECS	PAX8	CIC	SNORD115-1	SPTBN1	NGLY1	ABCC9	ADH1C	DHX30	PWRN1	GABRB3	RTTN	ASPA	TSHR	GALNT2	SMARCB1	NR1H4	GRM7	CHAMP1	SLC6A5	PWAR1	HLA-DRB1	DNAJC13	HTRA2	POGZ	SYT1	NR4A2	EPG5	EXOC2	TBK1	CLCNKB	TBC1D20	FGFR3	SLC25A1	GRB10	CHAT	HEXB	TBC1D24	KCNT1	DDB1	STUB1	TTC5	GABBR2	CISD2	GIGYF2	TRAF3	TSEN34	SLITRK1	PTS	SELENON	CDK13	EIF4G1	ALDH4A1	BAZ1B	AFF4	OCA2	ELN	MAPT	SLC18A2	DOK7	PHOX2B	SNRPN	FGFR2	EP300	NDST1	HMBS	RIC1	TRAF7	NTNG1	CASK	USP7	EIF4H	SHANK3	EDN1	PIGT	STAG2	MTRR	TTI2	HUWE1	FKTN	CRH	BSCL2	ITGA7	WDR45	LRRC32	CARS1	MBD5	PHKG2	RFC1	PIGP	PRR12	GUSB	SLC22A5	DPYS	ATXN3	SPART	ACTA1	PARK7	GFAP	GBA1	NONO	LIAS	PUF60	MED23	SYT2	TWNK	LARGE1	FLCN	MCM3AP	GPR101	FOXE1	SATB1	PRPS1	DISP1	SIM1	UNC93B1	TRIO	P4HTM	SLC12A3	FXR1	BRD4	PODXL	SLC26A4	MAP3K20	KAT5	GLRB	NKX2-5	COL3A1	MKRN3	MYOD1	CTSH	CHRNA4	PHKA2	KMT5B	TNRC6B	COL13A1	PTCH1	MT-TT	METTL27	ANK3	TDGF1	DPH1	HDAC8	TDP2	AIP	CPOX	CCDC47	SPR	GTF2IRD1	SLC25A22	DBH	GNS	YY1	AHDC1	DKK1	GLUD2	CEP57	ERCC8	IRF4	FBXO7	GNAO1	GABRG2	IFNG	EML1	SLC5A7	FTL	GRIA3	PINK1	PDGFB	VPS13C	PIDD1	SNCAIP	PROKR2	VPS13A	CLN5	APOE	ABCB11	EEF1A2	TICAM1	CHRNB2	NAGS	BCL7B	NOTCH3	TRIM8	GRIA1	NCF1	VAMP1	HLA-DQB1	NUP88	FBXO11	TWIST1	IQSEC2	RERE	AKT1	BRAF	ARX	DYRK1A	TRPV4	DDC	ARCN1	RAC1	RFC2	MED27	NADK2	TBL2	CLN3	SMARCC2	POMT1	SLC25A13	ATXN2	WDR73	NHLRC1	TUBB3	GTF2I	ATP10A	EMC10	TNPO3	ALG13	TFE3	CHRNA2	HERC2	ZMYM2	BICRA	TNFSF15	GSN	HGSNAT	MYO9A	SLC9A6	STX1A	ATXN8OS	KCNA1	DNAJC30	NPAP1	ALMS1	PSEN2	SCN1B	CDC42BPB	PLCB4	TBP	FKRP	DMPK	COLQ	SLC18A3	PIK3CA	TERT	PRMT7	TLR3	CACNA1I	GLRA1	TELO2	H4C5	SNORD116-1	TFAP2B	CACNA1C	VRK1	TSEN15	SETD5	FLT1	POMT2	C2CD3	SUCLG1	HESX1	AP3B2	SOX2	SMC3	SLC35C1	ZBTB7A	ATXN10	ASH1L	GCH1	KIF15	BUD23	NFIX	SETBP1	TSC1	SRPX2	SARDH	ATXN7	SNAP25	IRF5	GNPTAB	CORIN	GJB1	WFS1	OTX2	CAMK2B	LAMB2	TPM3	TANC2	MMEL1	DUOX2	SUFU	AGRN	POLR2A	NIPBL	PRPH	TSC2	GTF2IRD2	LIMK1	SLC2A3	AIFM1	NAA10	HIBCH	NF1	STOX1	TMEM270	FMR1	MRPS34	ABCB4	NEUROD2	SIN3A	ATP8B1	PYGL	RAPSN	GPHN	ACAT1	TSPYL1	DNAJC6	ADNP	HEPHL1	PER3	CA2	PNKP	CNOT1
HP_PSYCHOMOTOR_DETERIORATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSYCHOMOTOR_DETERIORATION	GALC	PSAP	RRM2B	GALK1	ATP6V0A2	COG2	PLP1	RNASEH1	PLA2G6	ATP6V1E1	PPT1	KMT2A	CLN3	ATP6V1A
HP_SHUFFLING_GAIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHUFFLING_GAIT	ATXN8OS	MAPT	VPS35	SNCA	SLC18A2	TBP	ADH1C	DNAJC6	CSF1R	PRKAR1B	DCTN1	TIMM8A	MECP2	MT-TT	C19orf12	NAA10	SYNJ1	DNAJC13	GBA1	KDM5C	TMEM106B	CLN3	NR4A2	ATXN2	L1CAM	TAF1	PODXL	TK2	GIGYF2	ZMPSTE24	COL2A1	GLUD2	FBXO7	RAB39B	POLG	LRRK2	EIF4G1	SNCAIP	SGCD	LMNA	TRPV4
HP_ABNORMAL_BRAINSTEM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BRAINSTEM_MORPHOLOGY	AMPD2	CEP290	FGF8	TSEN2	PCLO	SMARCE1	NDUFB10	TUBB2B	DLL1	ZIC2	VLDLR	CLCN3	STIL	FA2H	TBP	PLCH1	SACS	PAFAH1B1	COG5	VRK1	TGIF1	PRDX3	FKTN	ZIC1	CACNA1A	DNAJC3	MYMK	B3GALNT2	IDH1	NODAL	B4GAT1	MT-ND1	PTCH1	PPIL1	FLVCR2	TDGF1	SIX3	SYNE1	ATXN8OS	ETHE1	VPS51	ARL3	MFSD2A	AGTPBP1	NDUFS2	PDHB	SLC25A46	RORA	NDUFB8	NDE1	SMO	TMEM67	MINPP1	TUBA8	PMM2	ENG	DKK1	DNM1	SMARCA2	SMPD4	FGFR3	POMT1	FOXH1	NUBPL	THSD1	EXOC7	GAS1	SNX14	CDON	PDGFB	DPM1	EXOSC8	ADGRG1	SHH	FH	RPGRIP1L	CHMP1A	GFM2	RARS2	LAMB1	VPS4A	EXOSC9	SETX	ECHS1	GPHN	LARGE1	NDUFS7	SLC19A3	MYH3	POMT2	WARS2	LAMA2	PPP1R15B	ABCD1	BRF1	BAP1	TRAPPC12	TBCD	TSEN54	TUBB3	RERE	ATXN1	AKT1	MACF1	NDUFA11	EN1	NDUFA6	CLTC	GMPPB	DYRK1A	NDUFA1	TRAPPC6B	KIAA0586	TGFBR3	RAC1	ANGPTL6	AHCY	POMGNT1	NF2	KRIT1	NAGA	DEGS1	CSPP1	WDR73	DOCK7	FKRP	ALG3	BLTP1	DISP1	TMTC3	NDUFV2	CUX2	KIF1A	NDUFS8	CLP1	NDUFB9	SCO2	PRDM13	TOE1	GLI2	LMNB1	COASY	ASNS	POMK	NPHP1	CEP55	RELN	TRRAP	CIT	ZNHIT3	DAG1	GTPBP3	NDUFB3	CRPPA	DNMT1	TUBB	NDUFS4	FGFR1	NDUFAF2	CERS1	ATP1A3	DYNC1H1	NDUFAF8	NDUFAF5	PIK3CA	NDUFV1	TERT	RTTN	CCDC88C	PPP2CA	SMARCB1	TSEN15	CCM2	TUBA1A	STAG2	PDCD10	TNFRSF11A	SLC35A2	MT-ND3	RANBP2	TIMMDC1	ARHGEF2	POGZ	PPP2R1A	EXOSC3	CHD2	NSRP1	PTEN	FOXRED1	EPG5	ATP6V0A1	EXOC2	TMEM126B	FLI1	CACNA1G	INPP5E	TMEM216	MAPK10	GABRB3	SURF1	LAMA1	CDC40	NDUFAF3	TSEN34	FARS2	PI4KA	FMR1	NDUFAF1	APC2	TUBB2A	TRMT10A	SLC5A6	NDUFS1	ADCY5	ASXL1	MT-ND2	MTRFR	DCC	KIFBP	PYCR2	GALC	NDUFS3	CYP27A1	UBE2A	TRAF7	SUFU	CTNNA2	MTRR	DNM1L	PIGA	DYNC1I2	SPTAN1	USP9X	SCN1A	CASK	OPA1	ROBO3	SMC1A	MAST1	EXOSC1	COL3A1	AHI1	MDH1	PDHX	NDUFS6	AIFM1	FUZ	TMX2	GFAP	MAB21L1	PIEZO2	MED23	NDUFB11	ATXN2	PIGS	STUB1	TWNK	NDUFAF4	NFIX	COG8	WNT1	DNAJC19	SEPSECS
HP_HYPOPLASIA_OF_THE_BRAINSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_BRAINSTEM	TSEN2	PCLO	TUBB	VLDLR	PAFAH1B1	POMGNT1	DYNC1H1	FKRP	FKTN	MYMK	B3GALNT2	PPP2CA	B4GAT1	TUBA1A	PPIL1	TSEN15	POMT2	FLVCR2	NSRP1	PTEN	MFSD2A	EXOC2	PDHB	RAC1	INPP5E	CSPP1	TMEM216	NDE1	TMEM67	TUBA8	CDC40	TSEN34	SMPD4	POMT1	TOE1	EXOC7	APC2	TUBB2A	TRMT10A	ADCY5	ASXL1	ADGRG1	TUBB3	FH	RPGRIP1L	CHMP1A	KIFBP	PYCR2	LAMB1	POMK	MYH3	WARS2	PPP1R15B	BRF1	CTNNA2	MTRR	TSEN54	DYNC1I2	MACF1	USP9X	EN1	CASK	GMPPB	MAST1	DYRK1A	COL3A1	TMX2	WDR73	BLTP1	TMTC3	PIEZO2	PRDM13	LARGE1	MINPP1	COASY	CEP55	NFIX	CIT	SEPSECS	CRPPA
HP_ABNORMAL_LOWER_MOTOR_NEURON_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LOWER_MOTOR_NEURON_MORPHOLOGY	VPS41	TRPM7	MATR3	FUS	TMEM106B	ASAH1	SIGMAR1	CHMP2B	TBK1	GRN	TREM2	C9orf72	C19orf12	SPG11	CHCHD10	PLEKHG5	VPS13D	VCP	DCTN1	ALS2	SETX	PSEN1	TARDBP	SQSTM1	MAPT	ATXN3
HP_VISUAL_HALLUCINATIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VISUAL_HALLUCINATIONS	NPRL2	CLN3	DNAJC5	EPM2A	VPS35	NHLRC1	SNCB	GBA1	SNCA	PUS3	FIG4	LGI1	GIGYF2	DEPDC5	CACNA1A	FBXO7	RELN	ATP13A2	LRRK2	CLN6	EIF4G1	DNAJC13	NPRL3
HP_POOR_COORDINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POOR_COORDINATION	CREBBP	SLC25A15	CARS1	SYNGAP1	MTR	ARL6	EP300	TANGO2	NSD1	CDC42BPB	KCND3	SLC6A8	NIPA1	NAA20	KCNA1	TBC1D23	RNF168	AFF2	MLXIPL	NIPA2	ERCC4	HUWE1	HSD17B10	BBS1	TUBG1	TCF20	SETD2	LZTFL1	SIM1	EED	YWHAG	ELN	TXN2	PDE2A	CCDC28B	APC2
HP_LOSS_OF_SPEECH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOSS_OF_SPEECH	ALDH18A1	GALC	PSAP	SPG7	ARSA	CHMP2B	GRN	GRIN2A	GABBR2	CDKL5	RNASEH2A	NTNG1	ERLIN2	ALS2	SLC19A3	NPC1	RNASEH2C	BSCL2	RNU7-1	IFIH1	ADAR	SAMHD1	NPC2	VCP	C9orf72	ABCD1	MAPT	AARS2	GM2A	IRF2BPL	TREM2	PPT1	SQSTM1	SMC1A	CLN8	TPK1	TMEM106B	TREX1	LSM11	SARDH	PSEN1	HGSNAT	NAXD	MECP2	RNASEH2B	MAN2B1
HP_NORMAL_INTERICTAL_EEG	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NORMAL_INTERICTAL_EEG	SCN8A	SCN2A	KCNQ3	PRRT2	PDE2A	KCNQ2
HP_DIMINISHED_MOVEMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIMINISHED_MOVEMENT	SLC6A3	VPS35	SNCA	DOK7	SLC25A4	SLC52A2	NEB	NR4A2	DNAJC6	HTT	MAPT	LAMA2	NUP88	MYOD1	TPM3	SLC39A14	ACTA1	KARS1	LAMP2	CLTC	DCTN1	SLC2A3	TH	LMOD3	TMEM240	ALG11	DDC	SLC18A3	KLHL40	DNAJC13	GFM1	MRPS16	FLVCR2	PAM16	AIFM1	KLHL41	RRM2B	DPM2	PPP2R2B	CHRNA1	LGI3	CHRNG	CNTN1	TSPOAP1	GPHN	GLRA1	TOR1A	TPM2	GBA1	POLG2	PODXL	WWOX	MPZ	ATP13A2	GIGYF2	ATP7B	RAPSN	PET117	VPS13C	CFL2	PANK2	TWNK	SYNJ1	LRRK2	FGF14	EIF4G1	POLG	ERBB3	FRRS1L	MUSK	DPAGT1	FXR1	TUBA1A	CP	CHRND	PRNP	MTM1	PDE8B
HP_HYPOKINESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOKINESIA	SLC6A3	SNCA	DOK7	SLC25A4	SLC52A2	NEB	HTT	LAMA2	NUP88	MYOD1	TPM3	SLC39A14	ACTA1	LAMP2	CLTC	SLC2A3	TH	LMOD3	ALG11	SLC18A3	KLHL40	GFM1	MRPS16	PAM16	AIFM1	KLHL41	RRM2B	DPM2	PPP2R2B	LGI3	TSPOAP1	GPHN	GLRA1	TPM2	POLG2	WWOX	MPZ	ATP13A2	ATP7B	RAPSN	PET117	CFL2	TWNK	POLG	FRRS1L	MUSK	GBA1	TUBA1A	PRNP	MTM1	PDE8B
HP_DEVELOPMENTAL_REGRESSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVELOPMENTAL_REGRESSION	PMS1	SCN1A	CACNA1E	VPS37D	HTT	EEF1A2	CDKL5	DNM1	KCNT1	IDS	ZNF699	GABRA5	ST3GAL3	SERAC1	CACNA2D1	CDK19	PSAP	IPO8	RNASEH2C	MT-ND1	TLR4	EIF3F	FBXO28	COQ8A	ADAR	NARS2	FAR1	STX1B	PEX5	IFIH1	GRIN2B	MECP2	CACNA1B	GLB1	SCN9A	PEX10	MSH2	AAAS	TRAK1	ADH5	TUBB4A	NDUFB8	LETM1	EIF2B3	EIF2B5	NTRK2	MBTPS2	GALC	SCN2A	ACTL6B	WARS2	GABRD	FDXR	SYNGAP1	GRIN1	SLC29A3	NAGA	ZBTB18	RNASEH2B	TBCE	MLXIPL	NDUFC2	REEP1	CACNA1A	CARS2	HSD17B4	NDP	YWHAG	EARS2	KCTD7	TRAPPC12	GLRX5	PIGQ	FARS2	NDUFAF6	FKBP6	DMXL2	MT-ND6	XPC	DPH5	EIF2B4	MT-ATP6	COA8	SMARCAL1	LRPPRC	GNB1	SMC1A	SLC30A9	PET117	SCO2	GAMT	AIFM1	CLIP2	POLG	NEU1	GABRA2	IL12A-AS1	SIK1	SCN1B	PEX16	PDE2A	SDHB	PHYH	NUP214	ZBTB20	CIC	SPTBN1	NGLY1	ATP7A	NACC1	FGF12	TTPA	ARSA	HLA-B	SCN3A	GRM7	EPRS1	DDB2	FUCA1	CTNNB1	RANBP2	FOXG1	CLPB	PCDH19	GABRG2	ERCC2	EIF2B2	SLC9A6	IBA57	SEMA6B	DNMT3A	TBC1D24	SURF1	GABBR2	CISD2	PIGY	MSH6	NDUFAF3	TPK1	PHACTR1	MT-TV	CNPY3	LSM11	PIGT	AARS1	TK2	HEXB	HCN1	TCIRG1	POLR3GL	BAZ1B	SCN8A	ELN	PEX6	WASF1	SDHAF1	PLCB1	COQ2	NTNG1	GRIN2A	CASK	SON	SLC19A3	POLR3A	EIF4H	ARX	IQSEC2	PEX14	FGF13	BMPR1A	ATP6V1A	SEMA4A	SLC13A5	TBC1D2B	SPTAN1	PDSS2	KLRC4	NFU1	PTCD3	POLR3K	SDHD	PIGP	SDHA	NDUFA6	ARV1	CHD2	FBXW7	PEX1	CELF2	HNRNPU	ACOX1	FZR1	SYNJ1	SLC25A42	SATB1	SLC1A2	GABRA1	COG8	LYRM7	ETHE1	PLA2G6	ERCC5	PPP3CA	ASPA	PLP1	TREM2	NDUFS7	CLN8	TYROBP	ADA2	ATP5MK	GCDH	IL10	PEX7	PEX3	NDUFV1	TPP1	NECAP1	RNU7-1	RHOBTB2	METTL27	ATP1A3	COASY	MT-ND5	STAT4	AP3B2	CNKSR2	AGTPBP1	NDUFS4	NDUFS2	UBTF	GLA	DHDDS	SUMF1	FAN1	GTF2IRD1	SLC25A22	TNFRSF11A	DNM1L	MFF	IRF4	POC1A	NUP62	GNAO1	KRAS	CNP	FRRS1L	HIBCH	ERCC3	ERAP1	CHMP1A	PCYT2	MMACHC	BCL7B	GFAP	PMPCB	TRIM8	SLC38A3	NCF1	MLH1	POLR3B	TBCD	IFNGR1	SLC39A14	FITM2	KCNT2	SZT2	EIF2B1	TRAPPC6B	AHCY	RFC2	MED27	ADGRV1	GABRB1	PIK3CA	TBL2	MT-ND4	GM2A	GTF2I	GABRB2	AGA	ATP1A2	TFE3	PARS2	PEX12	DEAF1	UGP2	ISCA1	TREX1	PEX11B	BICRA	KCNA2	SLC12A5	ASAH1	STX1A	VAC14	KCNA1	DNAJC30	GFM2	MT-ND2	TANGO2	NAXE	SGPL1	ST3GAL5	RNASEH2A	DTYMK	ACER3	KARS1	BSCL2	HSD17B10	NBEA	TRAPPC2L	C4A	L2HGDH	TMLHE	DALRD3	IL12A	XPA	H3-3A	IL23R	HACE1	IRF2BPL	MEFV	PEX19	BOLA3	ARHGEF9	BUD23	PEX2	NDUFV2	EPCAM	RPS20	WWOX	CLN5	SELENOI	CAD	MT-TK	HNRNPH2	MTRFR	CUBN	KCNB1	CLTC	TRAPPC11	PYCR2	LIPT1	CUX2	TUFM	GUF1	TGFBR2	ERCC4	WFS1	NDUFS1	PEX13	CAMK2B	PMS2	TANC2	WDR45	STXBP1	CCR1	GRIN2D	MT-TW	PEX26	MT-TN	GTF2IRD2	NRXN1	LIMK1	HPDL	PIGA	FOLR1	ATP11A	MT-TL1	TBCK	AMN	MLH3	SAMHD1	ERLIN2	MT-ND3	TMEM270	SMPD1	MRPS34	CD40LG	WLS	CYFIP2	NTNG2	NEUROD2	SIN3A	COX4I1	UBA5	UBAC2	NUS1	ADPRS	GMPPA	ADNP	HEPHL1	NAXD	DNAJC19	FAS	PAFAH1B1	PNKP	ROGDI
HP_HAND_TREMOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAND_TREMOR	TSHR	SMN1	SPTLC1	POLG	PDK3	MARS1	CAMTA1	CTNND2	TOR1A	TAF1	ADRA2B	YEATS2	MFN2	ERLIN2	MARCHF6	PLA2G6	SMN2	ATP7B	GCK	STUB1	ZFYVE26	ANO3	TBC1D24	NEFL	NOP56	CNTN2	SLC6A17	DRD3	PHIP	FGF14	GJB1	RAB3GAP2	ABCB6	TRAPPC6B	C19orf12	SAMD12	KCNN2	VRK1	PMP2	TFG	ZFR	GBA2
HP_FASCICULATIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FASCICULATIONS	CHCHD10	VPS41	EXOSC3	TFG	SMN1	VCP	GLRB	FUS	HSPB1	SLC52A3	NEFH	SCO2	AGTPBP1	VRK1	KIF1C	PRUNE1	MEGF10	MORC2	ATP1A2	TBK1	GLRA1	NEFL	CPLANE1	RYR1	VPS13D	EGR2	MPZ	SLC6A5	TARDBP	UCHL1	SYNE1	ATXN3	UBA1	AIFM1	SQSTM1	ANO10	DCTN1	SPTLC1	NDUFS4	SH3TC2	SLC25A46	LGI3	HEXB	TSPYL1	FBXO38	OPTN	PNPLA2	SMN2	RAB7A	HNRNPA1	TMEM106B	TOE1	ASAH1	ATXN10	ATXN1	SLC25A21	PSEN1	SOD1	EXOSC8	EXOSC9	SLC52A2	GRN	VAPB	HINT1	GLA	SCYL2	ERGIC1	NOP56	TBCD	PRPH	SPG11	RMND1	PFN1	ATXN2	ATP11A	COL25A1	C9orf72	ANXA11	SYT2	HNRNPA2B1	CCNF	PSAP	SCN4A	PRRT2	PRX	KCNK9	MAPT	ELOVL4	TREM2	CEP126	PMP22	GPHN	JAG1	MINPP1	ADPRS	AR	CACNA1A	LRSAM1	BICD2	VWA1	FXR1	SCN1A	ATAD1	CHMP2B
HP_APHASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APHASIA	MT-ND4	PLP1	MT-ND5	PSEN2	PSEN1	ADA2	CYLD	TREX1	CFHR3	CHMP2B	MAPT	GRN	PRNP	CFH	ATP1A2	CFHR1	DEPDC5	C9orf72	POLR1C	HIRA	ADAMTS2	NDUFB11	POLR1D	MT-CO1	TCOF1	KRAS	L2HGDH	ABCA7	APP	VCP	TBX1	ACTB	SMARCA2	MT-TH	COX7B	TCF4	L1CAM	GP1BB	MT-TL1	ARVCF	HTRA1	ADAMTSL2	TMEM106B	FGFR1	COL1A2	HCCS	RREB1	NPPA	DNM1L	POLR1B	HNRNPA1	SETBP1	TREM2	GRIN2A	ACTG1	COMT	SCN5A	NOTCH3	SEC24C	SORL1	UBTF	LGI1	RAI1	MT-CO2	KCNC2	TOMM40	COL1A1	CACNA1A	CKAP2L	ATRX	FA2H	STS	EHMT1	FRRS1L	MT-TF	HNRNPA2B1	NPRL3	NF2	OCRL	NPRL2	PLEC	MT-ND6	PRRT2	HLA-DQB1	SMARCAL1	JMJD1C	SQSTM1	MT-TS2	FLCN	RELN	MT-CO3	MT-TW	GJB1	TIA1	MT-TQ	UFD1	AMER1	NSDHL	SCN1A	MT-ND1
HP_INFECTIOUS_ENCEPHALITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFECTIOUS_ENCEPHALITIS	TMEM70	UNC13D	BTK	NCKAP1L	CD27	IL10	CCR1	STAT1	PRF1	HLA-B	IFNGR1	TLR4	SNORA31	ATRX	RFXANK	XIAP	SH2D1A	C4A	RFXAP	HYOU1	KLRC4	IL12A	CIITA	TOM1	STAT4	TBK1	CD40LG	IL23R	BCL10	DBR1	MEFV	L2HGDH	RFX5	UBAC2	UNC93B1	LBR	TLR3	STXBP2	IRF4	STX11	TICAM1	CLTRN	IL12A-AS1	FAS	ERAP1	IRF3	IKBKG	SLC6A19
HP_FOCAL_IMPAIRED_AWARENESS_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_IMPAIRED_AWARENESS_SEIZURE	VPS35L	SCN2A	SCN1A	TBC1D24	GABRA3	HTT	CIC	TANGO2	GJC2	ATP1A3	SCN3A	KCNQ5	GNB2	GAL	TLR3	SCN1B	HID1	CNTN2	DOCK7	PRRT2	SETD2	KDM6A	TSC2	KMT2D	PNPLA8	STX1B	POGZ	GABBR2	GABRG2	TRIM8	EPM2A	SCN9A	TBK1	TSC1	NSD1	CLN8	CLCN4	FMN2	AP2M1	ARHGEF9	ATXN10	KCNQ2	DNM1L	TRAF3	MYT1L	GNB1	LRP5	PDE2A	GABRD	LGI1	SCN8A	GRIN2A	GRIN2B	CNPY3	LGI4	TICAM1	CACNA1D	GRIK2	GAMT	CAMK2B	STRADA	VPS11	KCNB1	FIG4	CPA6	KCNC2	TGFB1	PCDH19	GABRA1	OPHN1	ITPR1	MACF1	FGF13	GRIN1	DEPDC5	CRIPT	FRRS1L	ZNFX1	ATP6V0A1	ADGRV1	NPRL3	APC2	NPRL2	PPFIBP1	MTOR	NHLRC1	CEP85L	RELN	HCN1	MICAL1	ATP6V1B2	GNAI1	SUPT16H	CDH2	ACSF3	UNC93B1	KCNQ3	NUS1	PAFAH1B1
HP_PARAPARESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARAPARESIS	SOX10	PLP1	SPART	SPG7	ADGRG1	FUS	GJC2	SRPX2	RNASEH2A	SPG21	PRUNE1	CCDC88C	OPA3	RNASEH2C	COASY	SPG11	RNU7-1	TNFRSF11A	SDHB	ABCD1	TARDBP	ARG1	AFG3L2	SQSTM1	MAG	GOT2	GBA1	ATP13A2	MICOS13	PI4KA	GJA1	MTRFR	MTPAP	SP110	LSM11	IDUA	WDR45	SELENOI	EDNRB	TRMT10A	VCP	POLR3GL	RNASEH2B	TBCE	NF1	GALC	SLC30A10	CPT1C	CYP27A1	TBK1	SDHAF1	SLC25A15	PPP1R15B	SLC19A3	BCOR	C19orf12	SDHA	FA2H	IFIH1	CLTC	MED13L	C9orf72	AIMP1	BTD	PEX16	SAMHD1	ADAR	ALDH3A2	SDHD	FUZ	TTC19	GFAP	ATP6AP2	GAMT	CHCHD10	TREX1	PRPS1	POLG	PNP	GJB1	FAR1	ASAH1	MTHFR
HP_CAVUM_SEPTUM_PELLUCIDUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAVUM_SEPTUM_PELLUCIDUM	LRRC32	RBM8A	PACS1	PCGF2	LETM1	STT3A	CPLX1	NSD1	TUBB2B	PPP1R21	MUSK	FGFRL1	MAPKAPK5	RAB5IF	PIK3CA	SMG8	MED25	NKX2-1	PPP2R5D	SETD2	CTBP1	NSD2	MAPK1	RNF125	PAFAH1B1	ALG12	BANF1	APC2
HP_EEG_WITH_POLYSPIKE_WAVE_COMPLEXES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_POLYSPIKE_WAVE_COMPLEXES	PSAT1	NEXMIF	EFHC1	CSTB	APC2	ADGRG1	VAMP1	SRPX2	CILK1	CHD2	KCNQ3	AGRN	GABRG2	KCNC2	SLC18A3	CACNB4	PIGW	PIGY	SCARB2	PGAP3	COL13A1	PIK3CA	PIGV	GABRA1	PIGO	YWHAG	GABRD	SLC25A1	CHAT	AP2M1	JRK	AKT3	PI4KA	SYT2	SLC5A7	MTOR	SNAP25	CLCN2	SYNGAP1	PGAP2	SLC6A1	MYO9A	SCN1A	PRICKLE1	SETD1B	PIGL	SLC2A1
HP_LOWER_LIMB_HYPERREFLEXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_LIMB_HYPERREFLEXIA	ALDH18A1	UBE3A	GLUL	DLAT	MKS1	CLDN11	KIF1A	FAR1	AFG3L2	KY	CYP2U1	HPDL	ABCC9	KIF1C	ST3GAL5	SDHAF1	ARL6IP1	KIF5A	PGM3	C19orf12	SDHA	PLXNA1	OCA2	ZFYVE26	VCP	SIGMAR1	IBA57	TMEM63C	FARS2	ATP13A2	MSL3	TH	MECP2	SDHB	LBR	ATL1	KDM5C	SPG7	CAPN1	SDHD	REEP1	PSEN1	TSPOAP1	UBAP1	SACS	HARS1	TREX1	NONO	LYRM4	COX4I1	APOE	DKK1	GCH1	IMPDH2	RUBCN	IFRD1	SUMF1	FTL	USP8	LARGE1	NR4A2	TAF1	SELENOI	TRRAP	GJB1	DPM1	MTPAP	MT-TE	HEXB	SLC33A1	TNR	NIPA1	MTRFR	PDE8B	VPS11
HP_COGWHEEL_RIGIDITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COGWHEEL_RIGIDITY	MME	RRM2B	SCN2A	MT-ATP6	SCN9A	SLC25A4	KCND3	RAB39B	CP	POLG2	GCH1	DAB1	SCN1A	TK2	TMEM240	ADAR	SLC19A3	ATP6AP2	PCDH19	GABRG2	NUP62	TWNK	KCNA4	POLG	GABRA1	FRRS1L	SCN1B	KCNN2	SLC6A3
HP_STROKE_LIKE_EPISODE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STROKE_LIKE_EPISODE	MT-TQ	MT-ND4	MT-ND6	AMACR	WFS1	MT-CO3	MT-ND5	MT-TH	MT-TL1	LRPPRC	MT-CYB	MT-TS2	MT-TF	MT-TW	MT-TV	MT-CO2	PMM2	PRNP	DPM3	LIG3	MT-CO1	HTRA1	MT-TC	MT-ND1	TTR	STIM1	DPAGT1	RFT1	MT-TK	NDUFA8
HP_POSITIVE_ROMBERG_SIGN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSITIVE_ROMBERG_SIGN	FLVCR1	TWNK	POLG	RNF170	RFC1	LITAF	SH3TC2	IRF2BPL	OPA3	MTTP	TBP	NEFL	KNSTRN	POLR3A	PIK3CD	PLD3	XRCC1	MFN2	TTPA
HP_LIMB_DYSMETRIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_DYSMETRIA	PDGFB	PDGFRB	RRM2B	PPP2R2B	SLC20A2	GRM1	KCNC3	CYP7B1	POLG	RNASEH1	NF1	DAB1	WASHC5	GBA2
HP_CEREBRAL_ARTERIOVENOUS_MALFORMATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_ARTERIOVENOUS_MALFORMATION	RASA1	ACVRL1	ENG	EPHB4	SMAD4	KRAS	IL6
HP_AQUEDUCTAL_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AQUEDUCTAL_STENOSIS	FANCB	FUZ	SLC12A6	TPRKB	SEMA3E	FGFR2	CLCN3	WDR73	TP53RK	NUP133	NF1	LAGE3	ZIC3	FGFR1	L1CAM	TTC26	CHD7	PLCH1	SF3B4	NUP107	OSGEP	WDR4
HP_MYOKYMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOKYMIA	PRKCG	SPTBN2	PNPT1	CACNA1G	PNKD	ADCY5	KCNQ2	LGI3	GSN	ATP13A2	MORC2	SOD1	TBCK	KCNA1	HINT1	UCHL1	PPP2R2B	ABCD1
HP_LEUKODYSTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEUKODYSTROPHY	HIKESHI	NDUFV2	SOX10	NDUFS2	NDUFB10	NDUFS4	NDUFA9	NDUFAF2	FBXL4	SAMHD1	PC	SPTBN1	NDUFS1	GJC2	LIPT1	RNASEH2A	NDUFAF8	NDUFAF5	NDUFV1	ARSA	ACER3	RNASEH2C	FA2H	POLR3A	RNU7-1	EPRS1	NKX6-2	SNORD118	ADAR	MT-ND1	NDUFS7	MT-ND3	TACO1	PSAP	TIMMDC1	PNPT1	COX6B1	PLEKHG2	FOXRED1	TMEM126B	NDUFA13	SDHA	IBA57	TUBB4A	SLC19A3	BOLA3	PDHA1	NDUFB8	COX15	ISCA2	SURF1	KARS1	NUBPL	NDUFAF3	PEX10	NDUFA2	DAG1	PI4KA	SP110	LSM11	CTC1	NDUFS8	NDUFAF1	RARS1	EDNRB	TMEM63A	MT-ND2	NDUFA12	EXOSC5	MTFMT	RNASEH2B	DARS2	PET100	GLRX5	ABAT	TUFM	NDUFS3	LMNB1	SLC16A2	NDUFAF6	HSPD1	NADK2	POLR3B	HYCC1	NDUFA11	NDUFA6	IFIH1	ERCC6	ATP11A	NDUFA1	AIMP1	COA8	PEX16	PYCR2	TMEM106B	NDUFA10	NDUFS6	POLR1C	AIMP2	ECHS1	LIAS	TAOK1	NDUFB9	NDUFB11	SCO2	PEX1	ISCA1	NDUFAF4	TREX1	ACOX1	ALG8	PLP1	FBP2	GTPBP3	NDUFB3	SDHB	NDUFA4
HP_SUBEPENDYMAL_CYSTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBEPENDYMAL_CYSTS	PDHX	GLUL	D2HGDH	TXN2	PEX1	TUBGCP2	PLCH1
HP_ABNORMAL_MIDBRAIN_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MIDBRAIN_MORPHOLOGY	ATXN8OS	CEP290	FGF8	DLL1	KIAA0753	CPLANE1	TBP	ADH1C	SNCA	SLC44A1	TMEM216	CC2D2A	CEP41	SPG11	VPS41	OFD1	SLC35A2	MT-TT	AHI1	GBA1	C2CD3	ATXN3	TMEM231	TCTN3	NR4A2	ARL3	TOGARAM1	EXOC2	INPP5E	ZNF423	TMEM107	KIAA0586	CEP120	SIX3	TMEM67	ATP7B	GCH1	GLUD2	FBXO7	PDE6D	FTL	PIBF1	TMEM138	ARL13B	STIL	SUFU	CDON	TGIF1	SNCAIP	RPGRIP1L	TBCE	NPHP1	MAPT	GALC	TOPORS	MKS1	FOXH1	PRKN	GTPBP2	B9D2	KIF7	PTCH1	TMEM237	BRF1	TDGF1	NODAL	C19orf12	DISP1	WDR45	CSPP1	LRRK2	FAM149B1	ATXN2	TCTN1	IFT74	CEP104	ARMC9	TMEM218	B9D1	GLI2	IMPDH2	ZIC2	GAS1	SHH
HP_MOLAR_TOOTH_SIGN_ON_MRI	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOLAR_TOOTH_SIGN_ON_MRI	CPLANE1	CEP290	TOPORS	MKS1	TMEM67	KIAA0753	OFD1	TMEM138	B9D2	KIF7	TMEM237	RPGRIP1L	TMEM216	CC2D2A	CEP41	C2CD3	KIAA0586	AHI1	TMEM231	TCTN3	CSPP1	ARL3	TOGARAM1	FAM149B1	INPP5E	EXOC2	TCTN1	IFT74	ZNF423	CEP104	TMEM107	ARMC9	CEP120	TMEM218	B9D1	PDE6D	PIBF1	ARL13B	SUFU	NPHP1
HP_POOR_HEAD_CONTROL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POOR_HEAD_CONTROL	PCLO	MAP3K20	NDUFB10	NACC1	SCN8A	EEF1A2	GJC2	DNM1	HIVEP2	MEGF10	GABRA5	CACNA2D1	NECAP1	CDK19	CACNA1B	TPM2	GNAO1	MT-ND1	COL13A1	GNPTAB	FGF13	AP3D1	ATP1A3	IFT140	PLP1	IFIH1	GABBR2	HPRT1	SYNGAP1	SUCLG1	AP3B2	PNPT1	CNKSR2	MFSD2A	NDUFS4	DHDDS	SLC39A8	PHACTR1	NDE1	NTRK2	SLC25A22	SLC18A2	OSTM1	GM2A	SCN2A	FGF12	DAG1	SLC5A7	ACTL6B	CELF2	NUBPL	PIGQ	GMPPB	GFM2	RARS2	CACNA1A	MYH7	PMPCB	TRIM8	GPHN	SLC38A3	TTN	VAMP1	FKBP14	NDUFS7	TRIP4	NGLY1	WARS2	YWHAG	NDUFA13	GALC	FARS2	NDUFA11	PIGF	NDUFA6	MYL2	PPP3CA	ARX	SZT2	TREX1	DMXL2	NDUFA1	CPLX1	AHCY	GEMIN4	ZNF526	GRIN2A	EBF3	GABRB2	NDUFV2	LYRM4	NDUFS8	MPZ	CLP1	ATP1A2	NDUFB9	SLC25A12	RALGAPA1	PARS2	HACD1	POMK	KCNA2	MYO9A	GABRA2	SIK1	NDUFB3	VPS50	EXOSC9	SDHB	ACTA1	KCNA1	EXOSC3	DPM2	MYPN	CDKL5	DHX16	NDUFAF2	SCN1B	GFPT1	RARS1	ATP7A	NDUFS2	SLC16A2	IREB2	ALG2	NDUFAF8	NDUFAF5	SPTBN4	COLQ	SLC18A3	NDUFV1	ASPA	SCN3A	HSD17B10	GRM7	GRIN1	ALG13	CACNA1G	MT-ND3	TIMMDC1	ELP2	LMNA	DALRD3	SELENON	FOXRED1	DHFR	TMEM126B	INPP5E	NDUFA10	SLC25A1	CHAT	BOLA3	GNB5	SMN1	FKRP	PSAP	SNAP25	WWOX	AARS1	NDUFAF1	SNAP29	TRAK1	UFC1	GABRG2	HCN1	SLC5A6	NDUFS1	ADCY5	TMEM63A	DPAGT1	MT-ND2	KCNB1	CLTC	LGI4	MRPS25	SLC35A2	NDUFS3	CHRNB1	MICOS13	CAMK2B	LAMB2	TPM3	PIEZO2	SDHAF1	CASK	AGRN	GRIN2D	KCNC2	SDHA	MDH2	ATP6V1A	SLC13A5	PTS	ITGA7	NDUFS6	NDUFAF3	SDHD	PIGP	ARV1	CYFIP2	NEUROD2	NONO	ALG14	COX4I1	UBA5	NUS1	NDUFB11	CHRND	SYT2	SLC1A2	NDUFAF4	FZR1	SYNJ1	PET100	VARS1	COG8	PAFAH1B1	PNKP	NDUFA8
HP_LONG_TRACT_SIGNS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_TRACT_SIGNS	CYP27A1	APOE	HFE	APP	NOS3	GTF2E2	MPO	PLAU	TNFRSF11A
HP_ANARTHRIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANARTHRIA	ALS2	SPG11	ATP13A2	SYNJ1	FA2H	FAR1	FUS	FTL	ALDH18A1	DNAJC6	PODXL	SIGMAR1	KMT2B	UBA1	TBCE	SPTLC1
HP_EXPRESSIVE_APHASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXPRESSIVE_APHASIA	C9orf72	NPRL2	FA2H	VCP	DEPDC5	TMEM106B	GJB1	PSEN1	CHMP2B	GRN	TREM2	NPRL3	MAPT
HP_MENINGOCELE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MENINGOCELE	CPLANE1	FLNA	FRAS1	GMPPB	IGF2	SEC24C	NOTCH3	WNT7A	DLL3	GRIP1	HES7	CEP290	POMT1	FUZ	TBXT	FKRP	SMO	VANGL1	GLI3	HIRA	POMT2	TBX1	FKTN	PAX3	SIN3A	OFD1	ALX4	KIAA0586	ARPC4	LFNG	COL18A1	CSPP1	B3GALNT2	BMPER	DACT1	MSX2	INPP5E	GP1BB	ARVCF	TMEM216	JMJD1C	RIPPLY2	ZIC3	KCNQ1OT1	RREB1	CCL2	VANGL2	LARGE1	PORCN	H19	SNRPB	MESP2	POMGNT1	FREM2	ZSWIM6	COMT	UFD1	SC5D	GJA1
HP_OCCIPITAL_MENINGOCELE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCCIPITAL_MENINGOCELE	CPLANE1	COL18A1	HIRA	TBX1	SEC24C	INPP5E	GP1BB	ARVCF	JMJD1C	WNT7A	COMT	UFD1	RREB1	SMO
HP_CEREBELLAR_MALFORMATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBELLAR_MALFORMATION	PIGN	TSEN2	FKRP	SEMA3E	CTSK	VPS37D	IL11RA	POMT1	AFF3	RPGRIP1	FGFR2	VRK1	TXNDC15	MYOD1	HYLS1	FLNA	FKTN	B9D2	ZIC1	B3GALNT2	TCTN2	SMARCB1	CSF1R	DYNC2I1	WASHC5	B4GAT1	PLCH1	SMARCE1	TMEM107	CRPPA	PLG	METTL27	FAR1	WDR35	ELN	FLVCR2	DPYSL5	SMG9	DPH1	ASXL1	ATP6V1A	VPS51	RNF113A	ARID1B	SETD2	SIK3	SLC25A46	TONSL	SMARCA4	DYNC2H1	GJB2	TBL1XR1	CPT2	GTF2IRD1	POLR3B	ZEB2	BUB1B	TMEM231	GRM1	PIK3CA	POMK	MBTPS2	AHDC1	DKK1	SMARCA2	EBP	IFT80	SKI	TMEM94	CHD4	DAG1	TMEM138	KRAS	PMM2	SNX14	GRIA3	FGFR3	TCTN1	FGFR1	MUSK	NPHP3	EXOSC8	TUBA1A	PTH1R	CDC42	POLR3A	STAG1	VANGL1	BCL7B	MLXIPL	EXOSC9	CREBBP	NOTCH3	NCF1	TRIP13	CEP290	GTPBP2	NUP88	DHCR7	POMT2	NFKB2	SMO	ATP6V0A2	TSEN54	MKS1	GMPPB	C2CD3	FKBP6	TMEM237	KIF7	KIAA0586	TMEM216	HRAS	RFC2	LARGE1	POMGNT1	TBL2	CSPP1	ARID1A	IGF2	OPHN1	RRAS2	WDR73	ALG3	BLTP1	TMTC3	GTF2I	ARMC9	COL4A1	DYNC2I2	TAOK1	B9D1	DOCK6	ATP6V1B2	WDR81	POMGNT2	SMARCC2	CLIP2	EVC2	PHGDH	TUBB	BICRA	CEP120	KCNQ1	EVC	SMARCD1	DPF2	MID1	MAF	STX1A	GLI3	MT-CYB	RXYLT1	MAN2B1	PPP1CB	SC5D	FTO	PAX2	SPRED1	NRAS	EXOSC3	DNAJC30	TBC1D24	ERF	SH2B1	BUB3	FOXF1	CEP57	B4GALT1	FBN1	NOVA2	SLC39A14	ATP6V1E1	AGTPBP1	DENND5A	CHD7	CDC45	HMGA2	TCTN3	SLC35A2	OFD1	SETBP1	CDKN1C	TSEN15	SOX4	H3-3A	POR	TMEM67	DNMT3A	PDHA1	AP1S2	GPC3	LAMA1	FANCI	SF3B2	TSEN34	BUD23	DHDDS	NFIA	CCDC22	RFWD3	ZSWIM6	BAZ1B	MTM1	GJB6	LONP1	ARID2	FUZ	DOK7	PPP1R12A	CWC27	GPC4	NOTCH2	SON	KANSL1	BCOR	EIF4H	LEMD3	GTF2IRD2	PHEX	LIMK1	MAP3K7	USP9X	SLC18A3	SOX11	COL3A1	TMEM270	GNAQ	ESCO2	PTCH1	MAB21L1	NONO	PIEZO2	RAPSN	TGFBR2	SALL1	CC2D2A	KCNQ1OT1	PORCN	DACT1	BUB1	SEPSECS	TGFBR1	RPGRIP1L	EP300
HP_DYSCALCULIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSCALCULIA	C9orf72	PNKP	FMR1	MAPT	VCP	NSD1	CHMP2B	GRN	CYLD	FUS	TREM2	TBK1	SQSTM1	HNRNPA1	CACNA1A	TMEM106B	CHCHD10	MAP1B	SETD2	PSEN1	TARDBP	HNRNPA2B1	APC2	SRY
HP_HYPOTHALAMIC_HAMARTOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOTHALAMIC_HAMARTOMA	CPLANE1	FAM149B1	KIF7	TOPORS	SMO	GLI3	SOX2	VPS16	OFD1	MAN2C1	SIX6	TMEM216	TIAM1	TCTN3	PDE6D	KIAA0753
HP_TETRAPLEGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TETRAPLEGIA	ALDH18A1	GALC	ATP1A3	PRPS1	ARSA	ARX	FGFR1	MC2R	KCNJ18	CACNA1S	KCNT1	BCAP31	NADK2	ATP1A2	DOLK	BCAS3	PRF1	ALS2	NHLRC2	AIFM1	STAR	TBCD	NNT	TXNRD2	TRAPPC2L	KRAS	DPYD	PNKP	TFG	IFIH1	MRAP	RANBP2	BUB1B	PAFAH1B1	GABRA3	NDUFA8
HP_ASTROCYTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASTROCYTOSIS	C9orf72	MTOR	MT-ATP6	MAPT	TSC1	SLC30A10	CHMP2B	GRN	TMEM106B	TREM2	SQSTM1	LAMA2	ADAR	STRADA	ERCC8	NUP62	PRNP	VCP	ERCC6	PSEN1	TSC2	POLG
HP_PROGRESSIVE_ENCEPHALOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_ENCEPHALOPATHY	TSPOAP1	WDR45	BSCL2	SUCLA2	NADK2	TBCE	HTRA1	TH	GLYCTK	TREX1
HP_LIMB_DYSTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_DYSTONIA	DISP1	COL6A3	DLAT	FGFR1	ZIC2	STIL	SPATA5	GCDH	PLCH1	THAP1	TGIF1	DLL1	DTYMK	ATP1A3	SLC39A14	ANO3	GNAL	COX20	SHH	GAS1	SPG11	NODAL	GLI2	CDON	STAG2	PTCH1	ARX	PANK2	TDGF1	SIX3	SYNE1	SLC6A3	PNPT1	NKX6-2	FGF8	CYB5A	AOPEP	EIF2AK2	SLC18A2	PRKRA	ATP7B	GCH1	ACTB	FOXH1	FTL	MAPT	NR4A2	COL4A1	ALS2	VPS13A	CYB5R3	GFM2	JAM2	YIF1B	WARS2	PARK7	KMT2B	AARS1	SPTLC1	CKAP2L	SCO2	FITM2	FUS	VPS16	VPS37A	TH	SMC1A	BSCL2	DDC	TUBB4A	TSPOAP1	MECR	TAF1	GNB1	SIGMAR1	HPCA	IMPDH2	VPS13C	AFG3L2	VPS11
HP_ABNORMAL_GLOBUS_PALLIDUS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GLOBUS_PALLIDUS_MORPHOLOGY	DLAT	NDUFS2	SLC30A10	CYP2U1	FA2H	GCDH	CYP27A1	GTPBP2	NDUFB8	NUDT2	SURF1	SLC44A1	KMT2B	SCO2	PANK2	POLR2A	C19orf12	NDUFAF3	COASY	IDH1	VPS41	FTL	VPS16	KCNQ2	MMUT	PLA2G6
HP_EYE_OF_THE_TIGER_ANOMALY_OF_GLOBUS_PALLIDUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EYE_OF_THE_TIGER_ANOMALY_OF_GLOBUS_PALLIDUS	FA2H	C19orf12	NUDT2	COASY	DLAT	PLA2G6	PANK2	VPS41	FTL
HP_ABNORMAL_HEAD_MOVEMENTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEAD_MOVEMENTS	NKX6-2	AARS1	SPTBN1	GAMT	EIF2AK2	GJC2	MAPT	GABRB3	VAMP1	KIF1C	LAMA1	SIGMAR1	GABRG2	CACNA1H	SPTLC1	SLC2A1	ALS2	PIGT	LMNB1	GPR88	FMR1	PI4KA	SPG11	GABRA1	FUS	DLAT	CACNA1A	PLP1	NAA10	HIBCH	JRK	VPS13A	TMEM63A	UCHL1	PEX10	PRNP
HP_DISTAL_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_MUSCLE_WEAKNESS	CHCHD10	ZFTA	PNKP	PNPLA6	MYOT	VCP	GNE	MED25	RFC1	MATR3	SETX	FUS	HSPB1	MTMR14	LRP12	MFN2	DHH	SPTLC2	GAN	GBF1	C19orf12	MYMK	FBLN5	NEFL	PLEC	SPG11	POLG	MT-ATP6	EXTL3	EGR2	COL13A1	SLC12A6	MORC2	PMP2	ATL1	UBA1	MME	ATP7A	TRPV4	MPZ	SPTLC1	PLEKHG5	SH3TC2	GRIA3	PRX	SORD	BSCL2	DYSF	RAB7A	REEP1	ANG	PMP22	COL6A3	SLC5A7	NDRG1	SLC25A21	COL12A1	SYT2	DNM2	VPS13A	JAG2	GMPPB	SBF2	HSPB8	HK1	VAPB	CPT1C	VAMP1	GTPBP2	DYNC1H1	TOR1AIP1	GIPC1	MYH7	PRPS1	FGD4	SBF1	PPP1R15B	GDAP1	NAGA	ZC4H2	SCYL1	COL6A2	GARS1	DCTN1	C9orf72	PHKA1	MYBPC1	DES	LDB3	HNRNPA2B1	MAPT	CRYAB	PABPN1	CCND1	JPH1	PRRT2	LITAF	ABCA1	TTN	TNPO3	DDHD2	ANO5	TIA1	MTTP	IMPDH2	CACNA1A	LRSAM1	BICD2	ACTA1	GJB1	MYO9A	VWA1	GYG1	KIF1A	COA7	MYH14	IGHMBP2	SOX10	ATL3	GFPT1	PTRH2	NOTCH2NLC	ALG2	MPV17	ATP1A2	COLQ	SLC18A3	RILPL1	ISCU	ACTN2	AARS1	IBA57	TYMP	LMNA	KLHL9	ATP1A1	ABCD1	TARDBP	ATXN3	SQSTM1	MAP3K20	RRM2B	VPS13D	ELOVL5	YARS1	SLC25A1	CHAT	HEXB	SACS	LIG3	HARS1	PNPLA2	SECISBP2	SMPX	RAI1	HSPB3	MTRFR	GCH1	HNRNPA1	FLNC	SARDH	SNAP25	NR4A2	INF2	MTMR2	CAV3	ATXN1	TK2	ALS2	TRMT10A	AFG3L2	ALDH18A1	TNR	DPAGT1	BIN1	DCAF8	VHL	DARS2	FIG4	ADSS1	HMBS	LAMB2	NEB	COL6A1	TBK1	ERLIN2	MYH2	CADM3	HINT1	AGRN	MARS1	SLC25A19	MLIP	DGUOK	CPOX	SIGMAR1	RYR1	AIFM1	CHP1	TDP1	DHTKD1	RELA	TCAP	HADHB	TWNK	EMILIN1	NUTM2B-AS1	ABHD16A	HADHA	ALG14	MCM3AP	JAG1	TPM3	KIF1B	FLVCR1	SLC5A6	XRCC1	SCN1A
HP_DENSE_CALCIFICATIONS_IN_THE_CEREBELLAR_DENTATE_NUCLEUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DENSE_CALCIFICATIONS_IN_THE_CEREBELLAR_DENTATE_NUCLEUS	PDGFB	ERCC6	PDGFRB	ERCC8	SNORD118	SLC20A2
HP_LANGUAGE_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LANGUAGE_IMPAIRMENT	AMPD2	FGF8	MN1	ZIC2	ODC1	CACNA1E	NLGN4X	YARS1	NEMF	PHF21A	APC2	HS6ST2	CTCF	CUL4B	SPATA5	HS2ST1	EEF1A2	PLCH1	HOXA2	ZBTB20	ARHGAP29	GPC4	GRIA2	SLC2A1	KYNU	TGIF1	GABRG2	GABRA5	KCNQ5	SERAC1	EP300	C9orf72	PURA	RSPH3	BMP4	SMARCB1	ASXL3	NODAL	EIF3F	EHMT1	ALDH18A1	CAMK2A	PGAP1	IFIH1	PSEN1	DPYSL5	SIX3	SPOP	GSX2	ATP1A2	RNF113A	MFSD2A	SETD2	FBXW11	MED13	WDR26	MORC2	FMN2	SMARCA2	SLC25A46	NTRK2	TAF8	PUS3	MECP2	ZEB2	WAC	DNAJC12	PDGFRA	DYRK1A	DLL1	UNC80	TAF1	FDXR	SYNGAP1	MFSD8	ARID1B	VPS33A	HOXB1	ZNF407	ZBTB18	ADGRG1	CFAP418	AP2M1	ARX	HK1	DNAH1	JAG2	TWIST2	CREBBP	STAG1	SPARC	GEMIN5	SATB2	VPS4A	CACNA1A	LMNB1	CARS2	PGK1	NIPA1	PIGN	PSMD12	RUSC2	WARS2	YWHAG	AP1G1	KAT6B	MAPT	CFAP221	INTS8	STAG2	SRPX2	MACF1	PPP2R5D	MKS1	TCF20	CLTC	LINGO1	FLII	UBE3A	NCAPG2	HNRNPA2B1	UFSP2	KMT2A	DPH5	RNU7-1	KDM5C	CSPP1	ARID1A	CHKA	MCIDAS	BAP1	TRIO	UBA5	DYM	BRPF1	CHD8	TMTC3	ATN1	GAS2L2	EBF3	SOX5	MCOLN1	TCTN2	RAI1	ATP6V1A	EIF2S3	GNB1	BCAS3	CDON	FLNA	POU4F1	SLC30A9	GLI2	GRIA4	CLP1	GRIN1	PIK3R1	SUPT16H	MRE11	MAP1B	CTBP1	SPEN	TRRAP	GABRA2	SETD1B	EXT2	MAN2B1	PPP1CB	ZBTB11	REPS1	SLC1A3	SPRED1	EXOSC3	FGFR1	DPM2	TUBB	EXOSC2	TANGO2	GPAA1	SNORD115-1	CAMTA1	DLG3	ERMARD	IREB2	DHX30	GABRD	CHD2	FGF12	STXBP1	PLA2G6	ADNP	OFD1	ARFGEF1	TBK1	GALNT2	IQSEC2	SCN3A	TSEN15	NBN	IGF1R	HID1	COX20	TMEM63C	CHAMP1	USP27X	ABCA7	PNPT1	FOXG1	FRMD4A	TCF4	COG5	SLC33A1	UBE3B	THOC2	CBL	GOT2	EFTUD2	SGCB	SLC9A6	MADD	SEMA6B	GRB10	MEG3	TTC5	THRB	SLC6A19	DAG1	DNAAF1	TPK1	SPEG	SRCAP	CLPB	NAA15	PRMT7	TNPO2	WDR37	TBX1	WDR45	GPT2	ALDH4A1	HCN1	SQSTM1	DCC	DARS2	SETBP1	CCDC28B	BMPR1B	BTK	GNE	SLC35A2	ZMIZ1	NDST1	TRAF7	VCP	WASF1	KNL1	SORL1	YIF1B	LAS1L	MICU1	STRADA	TIMM50	RPGR	SDHAF1	CASK	FBLN1	PIGG	CRAT	FOXH1	PGAP3	SHANK3	H4C11	TTI2	SPTBN2	FKTN	SHH	SCN1A	MCTP2	SLC13A5	TRAPPC14	AUH	PTS	GJA8	GRIN2A	METTL5	DCPS	INPP5E	SOX11	ZNF462	CCDC103	LRRC32	CARS1	LAMA1	POMT1	POLR3K	PHKG2	IGF2	TREM2	CCNO	SDHD	PRR12	ARV1	ALG11	SPART	PIGM	FBXW7	MAGEL2	GNAS	AFF2	POMGNT2	MED23	HNRNPH1	WASHC4	FLCN	MCM3AP	HNRNPU	FZR1	SYNJ1	SLC25A42	BCORL1	SATB1	SNRPN	NXN	SLC1A2	GALT	DISP1	SIM1	GRM1	CCDC39	NDUFA8	PPM1D	SH2B1	DNAJB13	STIL	WDR4	KCNK4	SCN8A	POLRMT	LSS	QRICH1	GRHL3	GRN	ACSL4	MKRN3	HMGA2	NECAP1	KCTD7	C19orf12	RAB18	KMT5B	PRKAR1B	SIK1	XRCC4	FGF13	TBR1	AMMECR1	TKFC	ATP1A3	MBD5	GABBR2	APP	KMT2B	AIFM1	AP4B1	UGT1A1	UFM1	DHDDS	ALG14	CCDC47	GLS	WDR62	SLC17A5	POLR3B	PAK3	SHMT2	ADAR	PI4KA	RTL1	WDR81	DNM1L	LIPT2	AHDC1	NARS1	BCL11B	PEX1	ADK	FOXJ1	GCDH	NME8	CLCN4	PMM2	SNX14	GRIA3	UQCRQ	JAG1	OTUD6B	FRRS1L	MTPAP	GRIN2D	DPAGT1	ODAD2	VPS37A	CLN5	EXOSC5	CHMP1A	SLC6A17	TELO2	YME1L1	PCYT2	CEP63	ZNF711	PMPCB	SEC23A	SFXN4	NR4A2	CLIC2	TKT	DYNC1H1	HNF1B	TRIP4	DOCK3	CRADD	CRKL	DNAH11	RSPH4A	NEK10	SMC1A	PIGV	ADD3	TRPV6	EN1	HYDIN	PPP3CA	KIDINS220	SPEF2	TRAPPC6B	CPLX1	RAC1	SPP1	MED27	KDM1A	COG6	TMCO1	ERF	UBE2A	HACE1	SMARCC2	RUBCN	OPHN1	WDR73	CHKB	CWF19L1	DNAAF2	GABRB2	KIF4A	ATP6AP2	CCDC88A	TAOK1	GLB1	GNB5	BPTF	ACAD8	HERC2	UGP2	MSX1	MSTO1	GLRA2	MAPK1	CHD5	HEPACAM	DPYD	RAB3GAP2	CRBN	TAF2	RORB	ADSL	PSEN2	KCNA2	PLAA	NOVA2	CHMP2B	ST3GAL5	OSGEP	KPTN	PPP2CA	HSD17B10	NBEA	ATP5F1D	EIF4A3	TRAPPC2L	PRKCZ	SDHB	CACNA1C	SLC1A4	DNMT3A	CAMK2G	SETD5	ELP2	TMEM222	POMT2	PPP2R1A	SOX4	NSRP1	BRCA1	H3-3A	AP3B2	ALDOA	GRID2	POR	DNM1	NLGN3	RRM2B	MRPL12	FOCAD	PUF60	SF3B4	RPL10	ALG2	COG1	TDGF1	HNRNPA1	TRMT1	NFIX	NUP107	NEK1	ASPA	SMO	WWOX	SELENOI	GMPPB	NEXMIF	UFC1	CCDC174	ALDH7A1	KCNN2	CUBN	KCNB1	PRNP	MEF2C	PARS2	DNAH9	GNPTAB	ANK3	CDKN1C	CHD3	LNPK	CLDN11	GRIK2	GJB1	CWC27	GJA5	TBL1XR1	DNAAF11	VPS11	LMBRD2	NSD1	DHTKD1	DMPK	TBCE	NECTIN1	UBE4B	GAS1	MESD	SDHA	LEMD3	PIGA	DYNC1I2	KCNMA1	ANKRD17	ATP6V0A2	DHPS	MAST1	TBCK	AMN	DPF2	NF1	GPC3	ATAD3A	COL3A1	FMR1	MFF	USP9X	EMC1	CYFIP2	NTNG2	TSPOAP1	FOXP2	ORC6	PUM1	PTCH1	CLN8	RNASET2	DLX4	BBS1	ZSWIM6	KCNA4	NONO	FAR1	ODAD1	CNOT1	UBA2	NACC1	AASS	VLDLR	HTT	NSDHL	KIAA0753	DEAF1	DLK1	CASZ1	CACNA2D1	CDK19	VPS41	WIPI2	TUBG1	GNAO1	SMARCE1	ACADS	EXTL3	STK36	FBXL3	PLP1	CFAP300	ASXL1	TMEM231	CACNA1B	TRIM8	HSPG2	CC2D1A	SLC12A2	TBC1D7	GALE	TUBB4A	SMARCA4	CCDC65	TET3	CCND2	EIF2AK1	TBC1D23	TUBA8	ISCA2	CACNA2D2	NALCN	KAT6A	SUOX	NCDN	ALDH5A1	ACTL6B	CELF2	TSPAN7	KDM5B	TINF2	MED12L	DNAH5	BIN1	GFM2	ASPM	SPAG1	PMPCA	ASXL2	KMT2C	TP63	SLC6A8	PAK1	NSUN2	ADGRL1	YY1	FIG4	RALA	EARS2	TOMM40	POU3F3	AGO2	CNKSR2	LTBP4	PRDM16	GMPPA	RMND1	FARS2	PACS1	PIGF	C2CD3	CDH1	AGA	KIAA0586	HDAC4	ACOX1	LAGE3	DEGS1	TMEM106B	BBS9	FANCF	PDPN	CDC42	RIMS2	COA8	FOXP1	PIGO	SMARCD1	SETD1A	DNAAF5	FRMPD4	GAMT	KANSL1	ZC4H2	KLHL15	FOXRED1	PDE2A	SVBP	SLC9A7	KDM4B	TMEM147	CIC	KCNJ10	SPTBN1	GLYCTK	UBB	MYO9A	STAT4	SLC38A3	SLC16A2	NUDT2	KMT2E	KIF1A	PWRN1	SPTBN4	PRUNE1	GAS8	MED12	TBC1D24	GNB2	WDR45B	PWAR1	ZMYND11	GMNN	ARHGEF2	POGZ	ALG12	DOHH	PTEN	CNOT2	TBC1D20	TSHR	CDK10	HCN4	SMS	COG4	NIPA2	ERLIN2	DYNC2I2	MYT1L	ODAD3	TOE1	ADARB1	CLCN3	CDK13	AARS1	MMP23B	TRAK1	ADCY5	ZNF142	TUBB3	DNAI2	RSRC1	ACOX2	ANKRD11	FTSJ1	TM4SF20	SLC6A3	LHX1	NOTCH3	TTC12	PBX1	GATAD2B	RAB5IF	IRAK1	ATM	PHF8	PCDH19	DNAI1	USP7	KCNC2	B3GALT6	OCA2	XYLT1	HUWE1	MDH2	TENM3	SET	ARF1	BSCL2	ATP6V0A1	RNF125	CNNM2	RLIM	TLK2	EZH2	DPYS	BRF1	DMD	ATXN3	DNAAF6	AUTS2	RRP7A	PLPBP	KCNA1	TRAPPC9	THOC6	LARGE1	TH	KDM3B	PRPS1	TBX4	AMER1	VARS1	DALRD3	RSPRY1	ERCC2	DLG1	LIG4	DCLRE1B	HIKESHI	ADAT3	TP53RK	C12orf4	LMNB2	IARS1	RFC1	HIVEP2	SLC44A1	TPP1	DNAAF4	TNIK	PHKA2	TTN	TNRC6B	RHOBTB2	PPIL1	ODAD4	SKI	AGTPBP1	RTTN	IQSEC1	SIK3	PSMC1	THUMPD1	RORA	ITPR1	SPR	MPDU1	MINPP1	TENT5A	PRKRA	GNS	IRF6	NUP62	TMEM94	RPS6KA3	ARL13B	SMAD6	PRODH	SOD1	NFE2L2	TRAPPC10	TIAM1	ACADM	LRPPRC	IFT74	UBE4A	RARS2	MEIS2	MAPRE2	TRIP12	CNTNAP2	GRIA1	NDUFA4	UBTF	NGLY1	FBXO11	PRKAR1A	RAB11B	TBCD	LUZP1	ATG7	SZT2	CFAP298	TREX1	RSPH1	KIF5C	EED	ARPC4	COG8	PYCR2	BRAT1	DDX6	GEMIN4	PIGW	PPFIBP1	PACS2	PUS7	RSPH9	BLTP1	POLR1D	ATP10A	EMC10	ARMC9	KCNH1	LMAN2L	KCNAB2	TFE3	SLC25A12	RALGAPA1	CENPJ	TPRN	PRKD1	SIAH1	ZMYM2	PGAP2	PSMG2	TRAPPC11	NUS1	CSNK2A1	MRAS	VAC14	ZMYND10	NPAP1	ALMS1	SLC12A6	ZNF292	CERS1	EIF2AK2	RERE	LRRC56	BCR	ATP6V1E1	NIPBL	SMG9	FKRP	KAT8	DENND5A	SLC39A14	CACNA1I	KARS1	DNAL1	PLAG1	H4C5	IFT172	SNORD116-1	HNMT	ALG13	TMLHE	LMX1B	MTFMT	TOGARAM1	DOLK	ARL6	NRAS	MAN2C1	IRF2BPL	PYCR1	TOR1A	DNAAF3	NCAPD2	ZBTB7A	SYT1	ASH1L	HERC1	KIF15	PSMB1	BRWD3	CCDC40	PDE4D	INTS1	SHROOM4	HNRNPH2	TNR	TWIST1	MBOAT7	LINS1	ARID2	STT3A	GATM	CAMK2B	FTCD	TANC2	GORAB	NR2F1	GRIN2B	RYR1	INTU	CTNNA2	MSL3	MED13L	SCNM1	NEDD4L	MT-ATP6	MRPS34	COPB1	TECR	WLS	TRIT1	L1CAM	PIGP	AIMP2	SIN3A	DCX	ABHD16A	PHKB	LRP5	MED25	PIGS	GNAI1	CUL3	SHQ1	OGDH	SOBP	ACSF3	DRC1	SLC6A1	FIBP	MRPS14	NAXD	PAFAH1B1	ACBD5
HP_SPASTIC_DYSARTHRIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTIC_DYSARTHRIA	GBA2	ALDH18A1	MAG	AP4M1	ALS2	AP4E1	SPG7	PNPT1	FAR1	SPART	MARS2	ATP2B3	VAMP1	ERLIN2	AP4S1	AP4B1	GLRX5	PRNP	POLR3A	RAB3GAP2	GJB1	PEX6	TDP1	AFG3L2	MAPT	ATXN8OS
HP_POOR_SPEECH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POOR_SPEECH	ZIC2	ODC1	VLDLR	APC2	UBE3A	STIL	HS6ST2	MTHFS	PLCH1	GJC2	SNRPN	TGIF1	CASZ1	CSF1R	WIPI2	NODAL	PTCH1	SPEN	FBXL3	DIAPH1	TDGF1	SIX3	VCP	SKI	ATP6V1A	HSPG2	RTTN	SLC39A8	TUBB4A	FMN2	PUS3	ZEB2	PAK3	DLL1	FOXH1	ADK	IFNG	DLAT	FDXR	GAS1	FGF8	TRAPPC10	SHH	CHMP1A	CDC42	NAGS	SATB2	POMT1	GRN	CNTNAP2	GAMT	LARGE1	PAK1	VPS11	SLC19A3	NGLY1	POMT2	PPP1R15B	EXT2	NDUFA13	BRF1	PRDM16	TBCD	SLC39A14	LUZP1	PPP2R5D	DYRK1A	MAN1B1	ATAD3A	PIGH	HNRNPK	KAT6A	UBE2A	TRIO	PDPN	WDR73	CHKB	DYM	FKRP	TUBB3	DISP1	ATP10A	LRPPRC	NALCN	SQSTM1	MED13L	EIF2S3	KCNAB2	CDON	GATAD2B	GLI2	HDAC8	POMK	KANSL1	MID2	TRRAP	ATP6V1B2	MID1	FOXRED1	ZNF148	TAF2	SNAP25	SYNGAP1	FGFR1	GATA4	CIC	RERE	ATP6V1E1	NAA20	GABRD	FGF12	LAS1L	RILPL1	GPR88	AP4B1	TELO2	DOCK7	STAG2	PRKCZ	CTNNB1	CAMK2G	MTO1	TRMT5	TAF6	PPP2R1A	AP4M1	CHSY1	RAC1	ALG9	GMPPB	NUBPL	SYT1	DAG1	KIF15	UQCC2	TMEM106B	SASS6	ASPA	TSC1	SARDH	WDR45	SLC6A17	CCDC22	CAD	MMP23B	PSEN1	TRMT10A	KMT2B	GNPTAB	PYCR2	NDST1	NDUFS1	PIGC	SMC3	UBE4B	OPHN1	OCA2	KIF14	FRMD4A	TSC2	SMC1A	ATP6V0A2	SET	TBCK	INPP5E	RLIM	UNC80	C9orf72	SMARCA2	MAPT	AP4E1	MRPS2	NDUFA6	GUSB	ATP1A1	CLIC2	SLC35A1	TREM2	PLPBP	NONO	IQSEC2	FOXP2	MED25	AP4S1	TRAPPC11	RNASET2	AP1S2	ADPRS	RAB39B	SOBP	HEPHL1	COG8	KCNMA1	CHMP2B
HP_NONPROGRESSIVE_CEREBELLAR_ATAXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NONPROGRESSIVE_CEREBELLAR_ATAXIA	ATP2B3	ABCB7	ITPR1	FRMD4A	NADK2	ATCAY	CWF19L1	DNAJC19	CAMTA1	POU4F1
HP_SMALL_CEREBRAL_CORTEX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_CEREBRAL_CORTEX	ASPM	CENPJ	ZNF335	KIF14	TCF4	CDK5RAP2	CDK13	MCPH1
HP_EXPRESSIVE_LANGUAGE_DELAY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXPRESSIVE_LANGUAGE_DELAY	GNPTAB	FGF8	GNE	DLL1	SH2B1	YARS1	KMT2C	FOXH1	SPATA5	NSD1	SDHAF1	PTCH1	RAI1	SDHA	TDGF1	NODAL	DPYD	SDHB	DISP1	POGZ	ASXL1	ARID1B	SRCAP	SDHD	TUBB3	PUF60	FOXP1	SIX3	FOXP2	ZEB2	GNB1	SHMT2	MED23	HERC1	GLI2	AHDC1	FLCN	EHMT1	STIL	ZIC2	WARS2	TAF1	GRIA3	CDON	TGIF1	RSPRY1	GAS1	SHH
HP_MYELOMENINGOCELE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYELOMENINGOCELE	FLNA	FRAS1	IGF2	BMPER	FUZ	DACT1	MSX2	GRIP1	VANGL1	ZIC3	KCNQ1OT1	TBXT	SMO	CCL2	GLI3	HES7	PAX3	VANGL2	SIN3A	OFD1	PORCN	ALX4	H19	SNRPB	FREM2	ARPC4	SC5D
HP_PRIMITIVE_REFLEX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMITIVE_REFLEX	ALDH18A1	DNMT1	DPM2	MAPT	ST3GAL3	TUBB3	SPG21	GM2A	PIGA	NGLY1	JPH3	NDUFS8	MME	HADHA	GLRB	ATP13A2	CTSF	AARS1	PIEZO2	TYROBP	RAB18	TREM2	DCTN1	PSEN1	DNAJC6	HADHB
HP_PROGRESSIVE_SPASTIC_QUADRIPLEGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_SPASTIC_QUADRIPLEGIA	PLP1	ARSA	ARG1	FA2H	GM2A	SPTBN1	PLAA	ATP13A2	ACP5	PSAP	NADK2	PAFAH1B1
HP_HEPATIC_ENCEPHALOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATIC_ENCEPHALOPATHY	SLC25A13	DLD	ALMS1	RINT1	FOCAD	XIAP	SH2D1A	RYR1	ZNFX1	EIF2AK3	NBAS	PCK1	TULP3
HP_BULBAR_SIGNS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BULBAR_SIGNS	FIG4	SLC1A3	KBTBD13	KLHL41	RYR1	CHCHD10	MT-ATP6	TFG	GFAP	REEP1	MT-ND2	MATR3	NEK1	VAPB	MT-ND4	ATP1A3	PLAA	NEB	MYPN	CACNA1A	SIGMAR1	SPTLC1	ALS2	MT-TW	TPM3	ARSA	MT-ND1	ACTA1	ATXN1	SPG11	SLC39A14	MT-TV	FUS	MT-TK	TPM2	GSN	MT-TL1	PSAP	PLA2G6	MT-ND5	MT-ND6	ATP1A2	MT-ND3	GBA1
HP_MYOTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOTONIA	SCN4A	ACTA1	VMA21	CAV3	FHL1	LIFR	TMEM43	CACNA1A	CNBP	ANO5	DMPK	KCNA1	PFKM	HINT1	LMNA	TTI2	PURA	DNAJB6	EMD	CLCN1	SYNE1	SYNE2	HSPG2	SGCG	UCHL1	CAVIN1	SVIL
HP_HYPERKINETIC_MOVEMENTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERKINETIC_MOVEMENTS	NEUROD2	PSAP	YME1L1	GNE	THOC2	CACNA1E	CAMK2B	NGLY1	LETM1	PRRT2	PDE10A	GAD1	SYT1	TRAPPC11	RTTN	SUCLA2	GCH1	IQSEC2	ALDH5A1	HSD17B10	PNKD	GRIN1	SCN1A	WARS2	GNAO1	GRIN2A	FRRS1L	PTS	SLC9A6	VPS13A	CLPB	ZNF142	PYCR2	SUCLG1	SLC6A3	CACNA1B
HP_ACUTE_LEUKEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_LEUKEMIA	ELANE	SPRED1	DUT	WIPF1	MBD4	TREM2	NSUN2	TYROBP	ATRX	BUB3	SF3B1	KIT	GATA2	CEP57	IKZF1	TET2	SAMD9L	BCR	CLPB	DDX41	NBN	HAX1	RPS26	RPL26	IDH1	LIG4	BRCA2	TP53	LPP	SETD2	ETV6	NUP214	TAL1	RPS24	SRP54	SRSF2	GATA1	PIGL	MSH2	THPO	EVC2	JAK2	FLT3	SBDS	GFI1	RPS27	SMPD1	NSD1	TSR2	CALR	ADH5	ADA2	TERT	NUMA1	RPS28	MPL	RARA	BUB1B	DNAJC21	MDM2	SAMD9	GLI1	TAL2	TCIRG1	RPS19	RUNX1	RPL15	CDKN2A	KRAS	RPL11	BLM	RPS15A	RPS29	RPS20	RPL27	RPL35A	SH3GL1	TRIP13	CHIC2	ATM	CHEK2	MLLT10	MEFV	BAX	ERBB3	RPS17	NPM1	STS	EFL1	RPS10	WAS	APC2	TCF3	RPL35	SH2B3	DKC1	GNB1	RPS14	PICALM	DYNC2LI1	ABL1	DNMT3A	XRCC4	RPS7	RPL18	CEBPA	BUB1	RPL31	ASXL1	EVC	PRKACA	RPL5	PRKACB
HP_INCREASED_CSF_LACTATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CSF_LACTATE	MT-ND4	NDUFV2	NDUFS2	GFM2	NDUFB10	NDUFS4	MT-ND5	NDUFA9	NDUFAF2	MT-ND2	NDUFS1	NAXE	PDHA1	HTRA2	LIPT1	NDUFAF8	NDUFAF5	NDUFV1	MPV17	NDUFS3	MT-ND1	COX20	HSD17B10	TRMT10C	MT-CO1	COQ8A	NDUFS7	NARS2	MT-ND3	TACO1	TIMMDC1	PNPT1	ATPAF2	CLPB	SUCLG1	AIFM1	COX6B1	MTFMT	COX10	SLC25A4	FOXRED1	TMEM126B	NDUFA13	SDHA	MT-TH	MT-TL1	SLC39A8	SLC19A3	NDUFB8	COX15	DNM1L	SURF1	NUBPL	SLC2A1	NDUFAF3	TPK1	UQCC2	NDUFA2	FARS2	MT-TV	NDUFS8	RRM2B	NDUFAF1	MT-TK	ALDH4A1	NDUFA12	DARS2	LONP1	PET100	LRPPRC	RARS2	COX14	ECHS1	NDUFA4	NDUFAF6	MT-CO2	SLC25A19	MT-TW	TRAPPC12	MT-TN	RMND1	HPDL	MDH2	SCO2	NDUFA11	NDUFA6	NDUFA1	MT-TF	GFM1	MT-ND6	NFU1	COX8A	MT-ATP6	PDHX	NDUFA10	MECP2	MRPS34	NDUFS6	COA8	LYRM4	COX4I1	NDUFB9	SLC13A3	NDUFB11	PET117	MT-TS2	NDUFAF4	MT-CO3	LYRM7	TXN2	MT-TQ	TIMM50	NDUFB3	NDUFA8
HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_CORTICOSPINAL_TRACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_CORTICOSPINAL_TRACT	ATL1	DNAJC30	GALC	BCL7B	SLC33A1	MLXIPL	KPNA3	VPS37D	FUS	CPT1C	NCF1	UBAP1	MT-ATP6	DEAF1	NEFH	TBK1	WASHC5	IQSEC2	EIF4H	SPG11	PRPH	GTF2IRD2	LIMK1	RTN2	L1CAM	FKBP6	NIPA1	SOD1	C9orf72	FLII	ABCD1	METTL27	TARDBP	RFC2	RAD51	ALS2	TBL2	SQSTM1	TMEM270	DCTN1	PDHB	GTF2I	DCC	RAI1	GTF2IRD1	NTN1	DNAL4	BUD23	CLIP2	CHCHD10	SPAST	SPG7	VCP	STX1A	BAZ1B	PLP1	ELN
HP_UPPER_MOTOR_NEURON_DYSFUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_MOTOR_NEURON_DYSFUNCTION	MT-ND4	KIF2A	NDUFA9	ODC1	SPG7	CACNA1E	VPS37D	PI4KA	SPATA5	PLCH1	NEFH	MFN2	SLC2A1	GABRA5	RNASEH2C	KCNJ6	CYP2U1	RNU4ATAC	SPG11	RTN2	ALDH18A1	MT-TC	TSC2	FAR1	PGAP1	SIX3	GSX2	CYP26C1	TBK1	NKX6-2	MSH2	ITM2B	MORC2	ATP2B3	KLC2	PPT1	EIF2B5	TAF8	MECP2	DLL1	TPP1	NDUFA2	STAMBP	FDXR	COQ2	GUF1	ADGRG1	ARX	RNASEH2B	PRPS1	CRB1	POLR3A	CPT1A	VPS4A	LMNB1	EXOSC9	CARS2	NOTCH1	CHMP2B	GBA1	PRTN3	HLA-DQB1	PIGN	LRP4	PLP1	RUSC2	MECR	WARS2	YWHAG	FDX2	NDUFA13	POMT2	INTS8	GLRX5	ATP6AP2	TCF20	APC	LINGO1	SLC1A3	FKBP6	AIMP1	PIK3CA	TGFBR3	ATAD3A	KATNB1	NMNAT1	MT-ND6	TUBGCP2	DNMT1	POMGNT1	NAGA	KDM5C	MT-ATP6	UBA5	FBXO7	DYM	ATN1	DDHD2	SMARCAL1	FGF8	CYP7B1	MT-TS2	ACP5	MT-TW	GNB1	SMC1A	POU4F1	GLI2	GRIA4	CLP1	TPRKB	ASNS	MOCS1	NNT	NOP56	ZNF335	BICD2	TUBB2B	SCYL2	GABRA2	IL12A-AS1	COPB2	ZBTB11	REPS1	EXOSC3	SOX10	MT-ND5	FGFR1	IKBKG	TANGO2	SEPSECS	ATP7A	EZH2	GABRD	VAMP1	STXBP1	TTPA	PLA2G6	ZIC2	CFHR1	TOR1A	SMARCB1	SCN3A	COX20	TMEM63C	DDB2	FUCA1	ALG11	ARSA	INPP5K	ERCC2	SAMD9	KIDINS220	TSEN2	THOC2	ALS2	HTRA1	CACNA1G	KCNJ18	TREX1	SURF1	CDKL5	APOE	TPK1	GJC2	SP110	NR4A2	NDUFS8	SQSTM1	TBX1	IDUA	WDR45	ATXN1	HEXB	PSEN1	MT-TE	HCN1	PON1	POLR3GL	DCC	CNPY3	GMPPB	LRAT	BCAT2	VCP	CCNF	UBAP1	DARS2	MAN2B1	CTSF	SLC19A3	EIF4H	CKAP2L	SNCA	ARSI	PEX3	PEX11B	RAB3GAP2	AUH	NEFL	PTS	MT-TF	METTL5	UNC80	POLR3K	PPP2R2B	SDHD	AP4E1	ARV1	SPART	MC2R	PARK7	AMPD2	HADHA	MED23	KCNA1	STUB1	WASHC4	VPS13C	PDCD1	PEX12	MED25	FZR1	SYNJ1	DISP1	LYRM7	GRM1	ETHE1	WDR11	SLC33A1	NDUFS7	NEK1	CPSF3	GDAP2	GLRB	STIL	WDR4	HPDL	SCN8A	SACS	IL10	NECAP1	STN1	UNC13A	C19orf12	GNAQ	SETX	METTL27	ATP1A3	SYNGAP1	SATB1	AP4B1	NDUFS4	MARS1	WDR62	SLC17A5	POLR3B	SLC25A22	SLC18A2	KARS1	SHMT2	TMEM231	LIPT2	MTPAP	ERCC4	FGF12	GNAO1	ARG1	GCDH	EML1	KRAS	CLCN4	DDX3X	GLE1	CNP	SNX14	GRIA3	PDGFB	OTUD6B	FRRS1L	GRIN2B	VPS37A	TBC1D20	CHMP1A	NF1	RNF170	PCYT2	MPZ	GFAP	ECHS1	NCF1	MLH1	SCN1A	SUZ12	PPP1R15B	ABCD1	FOXRED1	TACO1	IFNGR1	RERE	FKTN	SAMD9L	ADD3	FUS	EIF2B1	TFG	SNORD118	SPP1	HACE1	DLD	TTC19	GM2A	RASA1	BRAT1	TOE1	UGP2	GDF3	MOCS2	PQBP1	DPYD	ASAH1	ATP1A2	TIMM50	NUP62	NDUFS2	CEP290	ERCC3	SCN1B	PEX19	ATRX	KCNA2	NUP133	NAXE	NOVA2	RNASEH2A	PRNP	VPS53	ERLIN2	PEX2	CEP85L	AASS	MYO5A	ZFYVE26	GLRA1	HEPACAM	MT-CO1	TNFRSF11A	MAPT	CACNA1C	C4A	SLC1A4	ELP2	TARDBP	HSD17B10	PNPLA6	ADAT3	MAG	GRID2	IL23R	CYB5A	PNPT1	MED17	MT-TP	AP1S2	UBQLN2	NUBPL	NPPA	FRMD5	RPGRIP1	CARS1	HNRNPA1	RRM2B	CAMK2A	ASPA	EPCAM	GAN	CTC1	WWOX	NEXMIF	UFC1	KCNB1	DPM1	PARS2	OGDHL	LIPT1	GALC	ANK3	RAB3GAP1	GRIK2	RNF113A	GUCY1A1	TDGF1	GUCY2D	OTX2	VPS11	ARL6IP1	TBCE	UBE4B	TGFB1	PRPH	PIGA	HYCC1	CASK	ATP6V0A2	TTR	OCLN	ADA2	SAMHD1	PIGU	CRX	MFF	JAM3	AIFM1	BEAN1	PRRT2	CYFIP2	TSPOAP1	RNASEH1	GAD1	PTCH1	AP4S1	ADPRS	C9orf72	AFG3L2	LARGE1	PRDM8	PNKP	CTSK	SLC20A2	C2orf69	HSPD1	HTT	MTHFS	DNM1	UGDH	KCNT1	GPT2	CASZ1	CACNA2D1	DNAJC3	ATXN2	VPS41	EXTL3	COQ8A	PRKN	PHGDH	IQCB1	DDHD1	PDHX	SLC25A15	GLB1	SLC12A2	KANK1	MT-TL1	EIF2B3	L2HGDH	SMO	PEX1	EIF2AK1	ISCA2	ATP13A2	CWF19L1	MCCC1	CAMTA1	GJA1	TLR3	ALG3	ACTL6B	PANK2	TAF1	THSD1	GRIN1	NDUFA12	NDUFC2	KPNA3	FOXH1	PMPCA	GRN	SLC6A8	NSUN2	AP1G1	DHDDS	EARS2	POU3F3	TRAPPC12	SCYL1	PRDM16	TXNRD2	FA2H	ARNT2	ANGPTL6	XPC	MT-TK	COA8	FOXP1	LRPPRC	ANOS1	FRMPD4	GAMT	NDUFS3	ZC4H2	CTDP1	NEU1	HMGCL	ERCC6	BSCL2	MT-TQ	NUP107	RANBP2	MT-CYB	ATAD1	NDUFA4	PAX3	PHYH	SPTBN1	CFHR3	SLC16A2	NACC1	PRUNE1	RTTN	CCDC88C	HLA-B	WDR45B	SLC6A5	CLPB	HTRA2	OSGEP	NDUFV1	GSS	ABCB7	ATP6V0A1	EXOC2	VPS13D	PSAP	MARS2	ARHGAP31	FXN	MTRFR	MSH6	NDUFAF3	STAR	ADARB1	MT-TV	CLCN3	PIGT	AARS1	MMP23B	PPOX	TRAK1	FLNA	CYB5R3	ELN	DNAJC6	ATL1	POLA1	TMEM67	IRAK1	MCEE	WASHC5	ALDH3A2	SDHAF1	SOD1	MDH2	BMPR1A	KIF5A	SEMA4A	NFASC	TGM6	PEX14	SIL1	L1CAM	DAO	COX8A	SPTBN2	EXOSC8	MTOR	SCN2A	TMX2	LYST	NDUFA6	TREM2	B4GALNT1	CELF2	CNTNAP1	SIGMAR1	PROKR2	MMUT	ACOX1	WDR73	PEX26	ANKLE2	PNP	HIKESHI	NDUFV2	MATR3	TP53RK	IARS1	RFC1	GLYCTK	AFF3	VRK1	PDGFRB	SLC44A1	SPEN	RAD50	RAB18	HPRT1	SKI	AP3B2	RPE65	CNKSR2	AGTPBP1	ARFGEF2	FAN1	PHACTR1	NDE1	PODXL	MINPP1	NDUFAF5	ANG	DKK1	PTPN23	EDNRB	PINK1	ABCC8	GBA2	PSAT1	UBE4A	TECPR2	ELOVL1	RARS2	SEC31A	SHH	ERCC5	SPG21	SLC38A3	GABBR2	GTPBP2	UBTF	IBA57	MPLKIP	CFAP410	RAB11B	TBCD	LUZP1	PEX16	DDC	RD3	VWA3B	NADK2	PYCR2	TUBB3	RNF216	GTF2I	IMPDH1	GABRB2	GLT8D1	DOLK	GPAA1	SLC25A12	RALGAPA1	PLAA	KCNQ2	NTRK2	CTSD	MT-ND2	NOTCH2NLC	ATP6V1E1	COQ5	PTEN	CAV1	TELO2	RNF220	CDON	SLC13A5	PIK3R5	TSEN15	LMX1B	DALRD3	XPA	HESX1	MTFMT	AP4M1	TARS1	SOX2	HS6ST1	ERLIN1	IRF2BPL	EIF2AK2	GIPC1	BCAP31	DNM1L	RFT1	ATXN10	TMEM106B	SARDH	ATXN7	GABRG2	SLC5A6	TNR	TUFM	OPTN	NDUFS1	SON	CYP27A1	REEP2	CACNA1D	KMT2B	RPIA	GRIN2D	NPC1	CACNA1A	GTF2IRD2	LIMK1	MSL3	IFIH1	WDR48	MT-ND1	MED13L	CRLF1	TMEM270	SMPD1	MRPS34	WLS	FUZ	CLIC2	PRKRA	UBAC2	SCN4A	SHQ1	PTPN22	SLC6A1	GJB1	DNAJC19	ACADS	WT1	GABRA3	ROGDI	TBC1D24	PMS1	OPA1	EEF1A2	GRIA2	TGIF1	PDYN	SERAC1	MEOX1	FARS2	NODAL	NIPA1	NUS1	NPC2	SPATA5L1	ATXN8OS	EPM2A	MFSD2A	PCDH12	WDR26	LIMS2	SLC25A46	COX15	LETM1	ZEB2	DOCK6	CCDC141	ENG	SPOP	AP2M1	KIF1A	ERBB4	RPS6KA3	CPT1C	PEX5	DUSP6	ABCC6	AMACR	TSEN54	PIGQ	MACF1	CLTC	HNRNPA2B1	PEX6	DPH5	RNU7-1	SOX3	EIF2B4	TMTC3	NDNF	ENTPD1	TCTN2	SPRY4	ABHD12	EIF2S3	BCAS3	PET117	PRDM13	PON3	LIG3	DHCR24	POMT1	SIK1	LCA5	DLAT	NUP214	SRPX2	IREB2	LAGE3	CHD2	PFN1	COASY	HID1	GRM7	COG2	CTNNB1	RNF13	MCCC2	GOT2	REEP1	FCSK	RBPJ	PDHA1	POLG	SPAST	LSM11	COL4A1	APC2	MAPK8IP3	TRMT10A	CCT5	DSTYK	ERCC8	BAZ1B	JAM2	YIF1B	PEX10	DCTN1	FBLN1	FEZF1	ATP6V1A	SPTAN1	FGF13	KLRC4	TWNK	PRICKLE1	LIAS	CHCHD10	PMP22	SLC1A2	GBE1	NDUFA8	DNASE1L3	PCYT1A	TYROBP	PAH	B3GALT6	PEX7	NSD1	PEX13	CSF1R	TIMM8A	RBM28	SEMA3A	SLC12A6	TTBK2	ADAM22	STAT4	TSC1	UFM1	MT-TH	MICOS13	ADAR	OSTM1	BCL11B	IRF4	FTL	GTF2H5	RETREG1	CLN5	EXOSC5	ERAP1	FIG4	BCL7B	RAB27A	PMPCB	KY	ZFYVE27	IFT140	AP5Z1	BCOR	PPP3CA	DCX	GFM1	MED27	OPHN1	POLR1C	ELOVL4	NHLRC1	ALG13	FLRT3	USP45	CIT	SLC12A5	TAF2	RARS1	KIF1C	DTYMK	TERT	ACER3	FKRP	TRAPPC2L	PRKCZ	SETBP1	SDHB	MRPS22	PNPLA8	MTO1	TMEM222	NSRP1	H3-3A	MEFV	BUD23	TUBG1	MT-ATP8	RPS20	SELENOI	ATG5	TMEM63A	GDF6	CLDN11	NOTCH3	POMK	SIX6	PMS2	LMBRD2	GCH1	TP53	HINT1	MT-CO2	GAS1	TTC26	SDHA	DYNC1I2	DHPS	MLH3	MT-ND3	EXOC8	NTNG2	NEUROD2	CAPN1	NT5C2	PUM1	CLN8	SPR	RNASET2	SUCLA2	ACAT1	ZSWIM6	KCNA4	MT-CO3	COL3A1	EOGT	PCLO	SMARCE1	FGF17	EEF2	PRSS12	TBP	CFH	DOCK8	CDK19	PRF1	OPA3	TLR4	B4GAT1	NARS2	ENPP1	SYNE1	HSPG2	ZNF592	TUBB4A	TRAPPC4	NDUFB8	TBC1D23	NALCN	SUOX	KCNC3	RDH12	GFM2	FLRT1	NDUFAF2	MLXIPL	VAPB	SLC30A10	SPTLC1	BAP1	PON2	GMPPA	HLA-DPB1	SRD5A3	DMXL2	KIF11	UCHL1	GTF2E2	NF2	DEGS1	NDUFA10	PDPN	GATAD2B	SCO2	MTTP	IMPDH2	CLIP2	USP8	TAF15	MLC1	MT-TI	VPS50	SVBP	CNOT1	SOX4	MCOLN1	KCNJ13	BDNF	NAA10	EPRS1	MRAP	EIF2B2	MYORG	COLGALT1	TULP1	TSEN34	PET100	SLC6A3	HLA-DRB1	PLCB1	TRAF7	NTNG1	KCNC2	TUBA1A	IL17RD	HUWE1	ERCC1	ARF1	CBS	MRE11	NFU1	RLIM	PIGP	DPYS	ATXN3	HLA-DPA1	LRRK2	EPHA4	HSD17B4	PAFAH1B1	AIPL1	SPATA7	CACNA1B	FOXG1	DPM3	RHOBTB2	PPARGC1A	PPIL1	DLL4	THG1L	PSMC1	ADSL	RORA	GTF2IRD1	AKT3	SUMF1	BCS1L	CTLA4	SCN5A	NAGS	LAMB1	COL4A2	TRIM8	CNTNAP2	SLC25A10	NDUFAF4	SLC39A14	AKT1	SZT2	TH	KIF5C	RFC2	TBL2	GEMIN4	PPFIBP1	B3GALNT2	TUBB4B	MRM2	ANXA11	TACR3	AGA	KCNAB2	ISCA1	TXN2	PRORP	STX1A	AUTS2	DARS1	ATM	DNAJC30	PROK2	CHD7	DYNC1H1	NR2F1	DENND5A	H4C5	STAG2	SLC35A2	TRMT5	IL12A	ZFR	TPI1	BOLA3	CACNA1S	CDC40	NHLRC2	EED	SATB2	TGFBR2	CAMK2B	NDUFAF6	CCR1	SUFU	CTNNA2	TPP2	SLC2A3	CHP1	TDP1	BTD	ATP5MC3	HADHB	COPB1	AARS2	TRIT1	ABHD16A	AAAS	PAX6	GPHN	ALG9	HRAS	NAXD	CA2	BUB1B	FAS	MTHFR
HP_ABNORMAL_RAPID_EYE_MOVEMENT_SLEEP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RAPID_EYE_MOVEMENT_SLEEP	CTSH	MAGEL2	RFC1	TNFSF4	P2RY11	HLA-DQB1	HLA-DRB1	MOG	COQ2	SIM1	ZNF365	HCRT	YY1	MEN1	DNMT1
HP_SPASTIC_ATAXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTIC_ATAXIA	GLRX5	PRDM8	MARS2	TUBB3	SPG7	HTRA1	CACNA1G	SACS	TANC2	VAMP1	MMADHC	MTPAP	KIF1C	AFG3L2	DARS2	TBCE
HP_SPINOCEREBELLAR_TRACT_DEGENERATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPINOCEREBELLAR_TRACT_DEGENERATION	GJB1	TDP1	MAN2B1	GCLC	ATXN3	PLP1	ATXN1	ATXN2
HP_LOSS_OF_AMBULATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOSS_OF_AMBULATION	REPS1	MYOT	CDKL5	NOTCH2NLC	DES	TRIM32	C19orf12	COQ2	HSD17B10	PLEC	SMN1	EPRS1	KLHL9	ADAR	TGM6	SDHB	ERBB4	UCHL1	ADAM22	MAG	ALS2	IRF2BPL	SGCB	PRX	GIPC1	SGCG	LETM1	GMPPB	AP4S1	OPTN	SMN2	SELENON	ACTB	RRM2B	NUP62	PEX1	VCP	MARS2	DSTYK	VPS13A	PLP1	DARS2	JAG2	DNAJC6	GFM2	ALDH18A1	TK2	CRPPA	DYSF	POMT1	MYH7	VAPB	GGPS1	GABBR2	LARGE1	APTX	MECR	SDHAF1	POMT2	CLN3	PLA2G6	NTNG1	CRAT	HINT1	SBF1	POLR3B	POLR3A	SDHA	SAMD9L	HYCC1	SLC39A14	GLRX5	FARS2	FA2H	VPS16	NEU1	BVES	MPV17	PEX16	MAPT	GALC	MT-ATP6	DMD	SDHD	NDUFA6	HK1	FKRP	DNAJB6	RNASEH1	LRP5	SMC1A	GOSR2	CHRND	TFG	LMNA	TWNK	MCM3AP	SUCLA2	LYRM7	MECP2	SLC9A6	EMD	FOXRED1	VAC14	GDAP1	HNRNPA1
HP_DIFFUSE_CEREBRAL_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFUSE_CEREBRAL_ATROPHY	KCNA1	ERCC6	WARS2	CARS2	TRIM8	SCN1B	COG2	RARS1	DCDC2	COG5	CTSF	DHCR7	CASK	GALC	COQ2	TBCD	TBP	TMEM67	PRKAR1B	PIGQ	HSD17B10	GRM7	VPS16	ARX	ATP13A2	GLB1	HTRA1	DMXL2	FMR1	GRIN1	PMPCA	PIGP	MED17	GRIN2A	NEUROD2	TBC1D24	BTD	SLC25A22	CDKL5	ATP6AP2	DNM1L	PSAP	SCN2A	FARS2	UQCRC1	GNAO1	MOCS2	FDXR	SIK1	TIAM1	PNKP
HP_SEMILOBAR_HOLOPROSENCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEMILOBAR_HOLOPROSENCEPHALY	ZIC2	TGIF1	STAG2	SEC31A	SMC1A	CNOT1	SIX3	PTCH1
HP_LIMB_HYPERTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_HYPERTONIA	TSEN2	NDUFA9	WARS2	SLC33A1	ADGRG1	ADCY5	AFG3L2	KCNA2	CDC42BPB	SPATA5	PLAA	SCN8A	NCAPD3	RARS1	FA2H	EEF1A2	SRPX2	DNM1	SLC16A2	SMG9	GABRA5	CACNA2D1	NECAP1	CDK19	SLC39A14	CACNA1B	SCN3A	H4C5	ERCC6	RHOBTB2	FGF13	SDHB	ALG11	TSEN15	ATP1A3	DALRD3	IFIH1	ATL1	SYNGAP1	ELOVL4	ASXL1	AP3B2	SPG7	PNPT1	CNKSR2	DHDDS	PIGA	COG4	SPR	SLC35C1	NTRK2	MINPP1	DNAJC12	PI4KA	OSTM1	KAT6A	MTPAP	TSEN34	KDM1A	GNB1	FGF12	ACTL6B	ATRX	WWOX	AARS1	TRAK1	PCCB	GABRG2	HCN1	ERCC8	VPS37A	KCNB1	HK1	CLTC	DNAJC6	GFM2	POLR3A	KIFBP	PYCR2	SLC6A3	NDUFC2	ASXL2	CLDN11	CACNA1A	GRIK2	FAR1	GPHN	EMC1	SLC38A3	ALDH18A1	SLC25A19	UBTF	SDHAF1	YWHAG	GRIN2D	BRF1	SDHA	MTRR	TSEN54	FRMD4A	GCH1	ARSI	PRPS1	PPP3CA	KIDINS220	ATP6V1A	ERCC1	SZT2	WDR48	SLC13A5	DHPS	DDC	KATNB1	UFSP2	LBR	DPH5	RNU7-1	KDM5C	SDHD	GABBR2	PIGP	ARV1	CYFIP2	GABRB2	PCCA	BRAT1	CELF2	UBA5	ATP1A2	NUS1	SLC30A9	PRDM13	PARS2	EBP	SLC1A2	GRM7	USP8	FZR1	SYNJ1	ASNS	TARS2	GABRA2	SEPSECS
HP_SPASTIC_TETRAPLEGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTIC_TETRAPLEGIA	PHGDH	SOX10	WARS2	KIF2A	CACNA1E	SYNJ1	TANGO2	ARSA	SEPSECS	ADGRG1	GLYCTK	COG2	SPTBN1	SRPX2	SLC16A2	MCOLN1	DYNC1H1	RNASEH2A	VPS53	DTYMK	RAB18	RNASEH2C	KARS1	CSF1R	AP4E1	RNU7-1	H4C5	WDR45B	FUCA1	PPIL1	MRPS22	RANBP2	COASY	HSD17B10	SPATA5L1	ELOVL4	GSX2	PDHX	GLB1	ATP6V0A1	EXOC2	PCDH12	GOT2	CYB5A	TBC1D20	KANK1	IBA57	SOX2	PSMC1	COLGALT1	NDE1	MINPP1	MECP2	SHMT2	PI4KA	CDC40	NALCN	NDUFAF5	OSTM1	ALS2	BCL11B	TUBG1	UNC80	LSM11	SCN3A	CNP	APC2	GRIN1	OTUD6B	CYB5R3	RNASEH2B	CNPY3	COL4A2	SEC31A	MTFMT	SIX6	YIF1B	CLIC2	STXBP1	SLC19A3	TBCE	CACNA1D	NDUFAF4	KCNC2	SDHAF1	CTNNA2	TUBA1A	SPTAN1	ADD3	IFIH1	AUH	KIF5C	SAMHD1	ADAR	SLC1A4	AP4M1	DPH5	DEGS1	PPFIBP1	SCN2A	TMX2	WDR73	TUBB3	PLA2G6	LIAS	ARX	CLN8	PRDM13	GRIA4	TREX1	ASNS	MOCS1	SHQ1	PRDM8	MOCS2	PET100	NAXD	ANKLE2	ATP13A2
HP_ALZHEIMER_DISEASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALZHEIMER_DISEASE	APOE	HFE	MPO	CACNA1G	PSEN2	PLAU	PSEN1	APP	NOS3	ABCA7	GATA1
HP_BRAIN_STEM_COMPRESSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRAIN_STEM_COMPRESSION	PIK3CA	BAP1	TERT	DKK1	FGFR3	SMARCB1	NF2	SMARCE1	FUZ	AKT1	TNFRSF11A	PDGFB	SMO	TRAF7	SUFU
HP_WADDLING_GAIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WADDLING_GAIT	ACTA1	KLHL41	COL9A3	SMN1	FHL1	FKBP14	HACD1	COL2A1	MATN3	CCN6	CFL2	NEB	PTH1R	GFPT1	TMEM43	ALG2	DSTYK	DYNC1H1	COL9A2	FN1	COLQ	SLC18A3	TRIM32	AP4B1	IDH1	ACAN	CANT1	MYPN	TTN	TRPV4	EMD	TPM2	COL13A1	SYNE2	SGCG	SLC26A2	DPM3	NOG	FKRP	AP4M1	MAP3K20	NEFH	TGFB1	SGCB	SLC25A1	HACE1	MBTPS1	ASAH1	MORC2	CHAT	SLC39A13	FLNC	YY1	CHST3	COL10A1	DAG1	HNRNPA1	SPEG	POC1A	COL6A3	PLEKHG5	SLC5A7	COMP	SNAP25	SLC6A17	PREPL	DYM	SYNE1	COL12A1	SYT2	DPAGT1	TRAPPC10	BIN1	UFSP2	GMPPB	MYH7	KBTBD13	SGCA	VCP	LAMB2	VAMP1	MYH2	AGRN	FGD4	RYR1	MYOT	TPM3	LMNA	LTBP4	BICD2	COL6A2	LMOD3	NEFL	HNRNPA2B1	MMP13	HSPG2	POMT1	DMD	AP4E1	CHKB	DOK7	DNAJB6	SLC34A1	IFIH1	ANO5	SELENON	GALNS	ALG14	LRP5	DEAF1	AP4S1	TRAPPC11	POGZ	SLC34A3	SPG7	COL9A1	COL6A1	MYO9A	LAMA2	SMARCAL1	ALPL	ACBD5
HP_INCREASED_INTRACRANIAL_PRESSURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_INTRACRANIAL_PRESSURE	PMS1	ERF	SMARCE1	CTSK	LRP5	SDHD	SDHB	IL10	USF3	PIK3CA	TERT	PRF1	HLA-B	ALX4	ZIC1	SMARCB1	TLR4	CCM2	IFT172	FGFR2	PDCD10	C4A	SOST	PTEN	IL12A	SEC23B	STAT4	TCF12	IL23R	MSH2	CASR	BAP1	MEFV	FAN1	SMO	MSH6	DKK1	PSAP	IRF4	EPCAM	RPS20	KRAS	PDE4D	FGFR3	PDGFB	TWIST1	ERAP1	VHL	GALK1	TGFBR2	ELMO2	PMS2	MLH1	CCR1	TRAF7	SUFU	PRKAR1A	L1CAM	GALC	CTNNB1	IFNGR1	AKT1	BMPR1A	BRAF	SEMA4A	KIAA0586	MLH3	SNORD118	KLRC4	APC	NLRP3	KRIT1	CCND1	CSPP1	NF2	UBAC2	KLLN	ANTXR1	IL12A-AS1	SDHC	GNA11	FAS
HP_ABNORMAL_PERIVENTRICULAR_WHITE_MATTER_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PERIVENTRICULAR_WHITE_MATTER_MORPHOLOGY	AMPD2	ALDH18A1	HIKESHI	EOGT	DPM2	ERCC3	LETM1	ODC1	CPLX1	RPL10	SEPSECS	ACP5	PC	ABCC9	DPM3	STXBP1	ARSA	MORC2	RTTN	GNB2	FA2H	TSEN54	SPG11	AP4B1	OPA1	OCRL	CTBP1	PSAP	NSD2	LMX1B	TMEM222	DLL4	SPATA5L1	UBA1	EDEM3	AP4M1	AP5Z1	TARS1	PDHB	RAC1	FCSK	FGFRL1	CLCN4	RBPJ	ARHGAP31	PDHA1	CNBP	TREX1	GMPPB	TET3	ISCA2	DOCK6	LIPT2	DDHD2	NRROS	CARS1	ACTL6B	TRMT1	SUMF1	CLPB	CDK13	SELENOI	USP7	CNP	GTF2H5	RFWD3	ACTA2	CLN5	KCNN2	HK1	MEF2C	LONP1	OGDHL	CDC42	NRCAM	RAB3GAP2	MMACHC	NDUFC2	ERCC2	POMT1	RNF113A	SON	NOTCH1	CNTNAP2	LARGE1	VPS11	SUGCT	ATP13A2	PAK1	STRADA	POMT2	WARS2	ABCD1	MPLKIP	BRF1	GALC	CNKSR2	DNM1L	TBCK	CYP27A1	GTF2E2	SSR4	NEUROD2	DEGS1	LAMA1	PDHX	PPFIBP1	AARS2	PRR12	AP4E1	FKRP	GM2A	FARSA	ABHD16A	GFAP	PUF60	AP4S1	TPRKB	LYRM7	SHANK3	CA2	PRORP	ARID2	MTHFR
HP_HYPSARRHYTHMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPSARRHYTHMIA	ASPA	IARS2	CACNA1E	GLYCTK	SPATA5	SCN8A	EEF1A2	DNM1	UGDH	CDKL5	GABRA5	ST3GAL3	CACNA2D1	PLPBP	NECAP1	CDK19	ALDH7A1	CACNA1B	SIK1	ATAD1	KCNQ2	FGF13	ATP1A3	PHGDH	GABBR2	SYNGAP1	GRIN2B	SATB1	AP3B2	TRIM8	EPM2A	CNKSR2	ARFGEF2	DHDDS	HCFC1	SLC39A8	HMGCL	PHACTR1	MPDU1	NTRK2	SLC25A22	ALG3	MFF	SCN2A	PTPN23	FGF12	GNAO1	ACTL6B	CELF2	NDUFAF8	SCN3A	GRIN2D	DPAGT1	GUF1	GFM2	CACNA1A	NARS2	SLC38A3	RUSC2	KCNB1	YWHAG	UPB1	TRAPPC12	SMC1A	PIGQ	KCNT2	PPP3CA	ARX	SZT2	DEPDC5	DMXL2	GABRB1	NEUROD2	PIGW	NPRL2	PPFIBP1	ZNF526	DOCK7	NHLRC1	ATN1	GABRB2	KIF1A	ALG13	CCDC88A	ATP1A2	DOLK	GNB1	ALG2	KCNJ11	ABCC8	PARS2	ASNS	KCNA2	GABRA2	ZNHIT3	TIMM50	KCNA1	SYNJ1	SCN1B	SETBP1	SPTBN1	PLAA	ATP7A	ERMARD	NACC1	IER3IP1	GABRB3	ARFGEF1	HID1	GRM7	CYFIP2	SLC35A2	SLC1A4	DALRD3	MED17	PDHA1	ALG14	GNB5	CNPY3	WWOX	AARS1	MGAT2	APC2	NEXMIF	TUBB2A	TRAK1	GABRG2	HCN1	CLTC	LONP1	OGDHL	CUX2	NF1	WDR45	STXBP1	PLCB1	CASK	ATP6V1A	KCNC2	TGFB1	PIGA	SPTAN1	TBL1XR1	SLC13A5	PTS	ATP6V0A1	HIBCH	GRIN1	NPRL3	EXOC8	MDH1	PIGP	ARV1	AIMP2	DCX	COX4I1	UBA5	GAD1	NUS1	SLC1A2	CUL3	FZR1	NAXD	D2HGDH	PAFAH1B1	PNKP	ROGDI
HP_AREFLEXIA_OF_LOWER_LIMBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AREFLEXIA_OF_LOWER_LIMBS	STIM1	ALDH18A1	SBF2	SMN1	FXN	HSPB8	REEP1	DNAJC3	SLC25A4	DYSF	MTMR14	OPA3	LIFR	SACS	OPA1	GLE1	MFN2	MYF6	SQSTM1	DES	PRPS1	CADM3	HINT1	PGM3	C19orf12	MYOT	TYMP	TOR1A	AARS1	XK	NEFL	SIGMAR1	RYR1	PNPT1	KLHL9	ATP6AP2	HARS1	MORC2	ACOX1	PMP2	ARL6IP1	MRE11	TCAP	TWNK	RRM2B	POLG	MAG	PDK3	VCP	DNM2	PSMC1	ERLIN1	MYH14	RNASEH1	POLG2	KLC2	PMP22	ATXN3	SMN2	RAB7A	RAI1	HSPB3	ORAI1	MCM3AP	PEX10	JAG1	GNE	GAN	HSPB1	PLEKHG4	BIN1	GJB1	FBLN5	KIF1A	VPS13A	SLC5A6	GBE1
HP_CATAPLEXY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CATAPLEXY	NPC1	CTSH	TBCD	TNFSF4	P2RY11	HLA-DQB1	HLA-DRB1	MOG	ZNF365	HCRT	NPC2	DNMT1
HP_FALLS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FALLS	FXN	FAR1	CERS1	SPTBN1	ALDH18A1	SACS	CUX2	NDUFS8	POPDC3	MAPK10	ATP6AP2	DAB1	GABRB3	LRAT	MAPT	RAPSN	GAN	GNB2	DNM1	CACNA1A	NKX2-1	ORAI1	PRKAR1B	OGDH	FA2H	SCN1A	DMD	TTN	SLC25A21	SET	PTS	VPS13A	ATP13A2	NOL3	CHD2	PDE2A	MYH7	SDHB	ACBD5
HP_NEURONAL_LOSS_IN_CENTRAL_NERVOUS_SYSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEURONAL_LOSS_IN_CENTRAL_NERVOUS_SYSTEM	ATXN8OS	PSAP	DNMT1	MAPT	NR4A2	ATXN2	CTSD	SLC9A6	CHMP2B	VAPB	TBP	PLA2G6	ADH1C	KCNT1	BRAT1	FIG4	PDYN	ZNHIT3	NPC1	GLUD2	CSF1R	TBCD	PIGA	PRNP	BSCL2	FUS	SCO2	HTT	GRN	SERPINI1	MT-TT	NARS2	SNCAIP	C9orf72	VAC14	GBA1	POLG	PSEN1
HP_AXIAL_DYSTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AXIAL_DYSTONIA	ALS2	MAPT	HPDL	GNAL	SPG11	FUS	COQ2	EIF2AK2	MECR	PPP2R2B	PLA2G6	SIGMAR1	NDUFS3	SPTLC1	COL6A3	CIZ1
HP_ABNORMAL_POSTURING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_POSTURING	AOPEP	TOR1A	EPG5	TIMM8A	ABCD4	PRNP	PANK2
HP_ABNORMAL_CORTICAL_GYRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CORTICAL_GYRATION	FGF8	TSEN2	FKRP	MN1	DLL1	KIF2A	VLDLR	STIL	CUL4B	SASS6	NSDHL	POMT1	HYLS1	PHC1	CPT2	FKTN	ETFA	B3GALNT2	SMARCB1	ADAMTS3	B4GAT1	FBXO28	SPOP	ATP6V1A	MAGEL2	ATP1A2	COL18A1	PEX26	CEP152	SRPX2	PDHB	CBY1	SMARCA4	KIF14	CCND2	TUBA8	ZEB2	CAMTA1	GPX4	PLK4	POMK	TMEM237	SCN2A	CSPP1	DAG1	EXOC7	ARID1B	TRAPPC14	ANKLE2	POLR3A	ASPM	RXYLT1	VPS4A	LMNB1	HSD17B4	EOMES	VIPAS39	SMO	TMEM67	TMEM218	TSEN54	KIF11	RMND1	PIGQ	MACF1	QARS1	SRD5A3	GMPPB	C2CD3	DMXL2	MECP2	VPS33B	PIK3CA	KATNB1	TUBGCP2	LARGE1	LAGE3	POMGNT1	NPRL2	ARID1A	GLI2	MKS1	ZNF526	ETFB	CEP41	CENPJ	TMTC3	ATN1	GPSM2	TP73	COL4A1	TCTN2	ATR	CLP1	GNB1	WT1	POU4F1	SLC30A9	SUFU	ARX	ATP6V1B2	POMGNT2	TPRKB	ASNS	FIG4	PRKDC	ZNF335	NCAPD3	MAP1B	TUBB2B	DHCR24	RELN	TRRAP	ACTG1	NDN	KLHL15	SMARCD1	SIK1	CIT	NUP107	COPB2	GAS1	CRPPA	FTO	POMT2	TAF13	LAMA2	TUBB	PIGB	ERMARD	MLYCD	RTTN	GRM7	PAFAH1B1	GMNN	OSGEP	ALG12	ADGRG1	HIC1	TBC1D20	ACTB	RAC1	IBA57	DONSON	CDK6	KIAA0586	CEP120	TTC5	PEX5	CDKL5	AKT3	TSEN34	CENPE	PI4KA	MTOR	CTU2	APC2	MAPK8IP3	TUBB2A	MCPH1	CDK5RAP2	TUBA1A	TGIF1	TCTN1	VAC14	TUBB3	NDE1	OCA2	ERCC1	KIFBP	LAMB1	SNRPN	PSAT1	WDR73	MICU1	FLI1	ETFDH	CASK	PEX16	SON	PEX10	WDR26	MFSD2A	DISC1	CEP135	NPRL3	SMARCE1	SOX11	AHI1	PIGP	TMX2	NDUFA6	RAB3GAP1	ATXN2	ZNHIT3	ASCC1	CILK1	CEP63	ZIC2	FDFT1	PHGDH	KATNIP	TP53RK	KAT5	LMNB2	MPDZ	RAB18	FOXG1	TRAPPC10	MEG3	CCBE1	MCM7	XRCC4	PYCR2	FAT4	PPIL1	TBR1	PTEN	PAX6	PIBF1	ARMC9	CDK5	WDR62	PEX3	SIX3	OCLN	SLC25A22	SHMT2	LIPT2	SMPD4	GNAO1	PEX1	EML1	SCN3A	CDON	PIDD1	BICD2	EXOSC5	FH	TRAIP	PEX6	COL4A2	TRIM8	GPHN	FOXH1	PEX19	PTCH1	CRADD	INPP5E	KNL1	RAB3GAP2	NARS1	TDGF1	GRIN1	ARHGAP31	STS	DEPDC5	DCX	KIF5C	MED27	WDR4	RECQL4	CPLANE1	PEX13	PPFIBP1	ARL13B	BLTP1	PIK3R2	BMPER	CCDC88A	YRDC	DOCK6	PLAA	SMARCC2	ISCA1	PEX2	SUZ12	CSNK2A1	SHH	PNKP	KCNA1	TBC1D24	GFM2	SCN1B	NUP133	EIF2AK2	ATP1A3	ATP6V1E1	DYNC1H1	IER3IP1	PDCD6IP	PEX11B	CEP85L	ODC1	OFD1	PEX12	TOGARAM1	TSEN15	LAMC3	TMEM222	SOX4	B9D2	NSRP1	DLK1	MAN2C1	PDHA1	CDC40	FRMD5	COG6	DCHS1	NFIX	TUBG1	NEK1	SF3B4	CEP104	SNAP29	SLC5A6	NPHP1	MBOAT7	LONP1	ARID2	ARL3	FRAS1	TUFM	PPP1R12A	TBL1XR1	PEX14	RPGRIP1L	CTNNA2	DYNC1I2	NODAL	USP9X	DHX37	ATP6V0A2	MAST1	RTL1	DPF2	DISP1	COL3A1	YWHAE	FUZ	METTL5	NEUROD2	SIN3A	RNU4ATAC	USP18	PLP1	SLC25A19	B9D1	SEPSECS	TUBGCP6	AHDC1
HP_ABNORMAL_CEREBRAL_CORTEX_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CEREBRAL_CORTEX_MORPHOLOGY	AMPD2	FGF8	MT-ND4	ADGRV1	FKRP	MN1	KIF2A	CACNA1E	VPS37D	TMCO1	CUL4B	SPATA5	TREX1	POMT1	ZBTB20	HYLS1	CPT2	C9orf72	ETFA	RNASEH2C	B3GALNT2	SPG11	CYP2U1	BMP4	SMARCB1	TERT	ADAMTS3	ADAR	ALDH18A1	GNPTAB	TSC2	NUS1	IFIH1	SPOP	ATP1A2	SRPX2	TCTN3	MYO7A	TRAK1	SLC39A8	SLC25A46	PUS3	MBTPS2	ZEB2	DYRK1A	TMEM237	CSPP1	TINF2	DAG1	FDXR	ARID1B	VPS33A	PDGFB	TRAPPC14	GUF1	ADGRG1	RNASEH2B	ANKLE2	KRAS	POLR3A	RXYLT1	VPS4A	ERCC5	LMNB1	EXOSC9	HSD17B4	CHMP2B	RPS6KA3	NIPA1	GABRA5	EOMES	VIPAS39	ABCC6	CPA6	TMEM218	ERCC8	TSEN54	KIF11	PIGQ	MACF1	GNAS	GMPPB	FKBP6	MECP2	VPS33B	CASR	PIK3CA	KATNB1	TUBGCP2	EMX2	LARGE1	RNU7-1	POMGNT1	CTSC	NPRL2	ARID1A	GLI2	MKS1	COG1	ZNF526	TMTC3	ATN1	TP73	COL4A1	ACP5	KIF1A	TCTN2	GNB1	WT1	POU4F1	SLC30A9	SUFU	GRIA4	ARX	CLP1	POMGNT2	GRIN1	USH1G	TPRKB	ASNS	ZNF335	MAP1B	TUBB2B	DHCR24	TRRAP	PGAP1	SCYL2	PEX6	NDN	SIK1	COPB2	MAN2B1	CRPPA	FTO	RAD21	VPS35	LAMA2	TUBB	MT-ND5	PIGB	CAMTA1	ERMARD	LAGE3	KDM6A	AGTPBP1	GABRD	TBK1	SCN1B	TSEN15	GRM7	DDB2	PAFAH1B1	DNAJC13	ABCA7	ERCC2	FARSB	HIC1	TSEN2	ALS2	ACTB	SLC9A6	IBA57	KIAA0586	TTC5	SURF1	CISD2	CDKL5	SIX3	AIRE	APOE	FMR1	LSM11	MTOR	CTU2	APC2	MAPK8IP3	TUBB2A	MCPH1	TUBA1A	TCIRG1	VAC14	SQSTM1	BAZ1B	PARN	NRAS	JAM2	PCDH15	WDR73	XPR1	SORL1	MICU1	CASK	FBLN1	FLI1	ETFDH	PEX16	SON	PEX10	EIF4H	NDE1	DNM1L	MFSD2A	KIF14	SPTAN1	FKTN	ERCC6	SIN3B	RAB3GAP2	MMADHC	MT-TF	NPRL3	FAM111A	SOX11	MAGEL2	PDGFRB	TREM2	AP4E1	DLL1	SIN3A	PRDX1	GBA1	ATXN2	ACD	STUB1	TWNK	VPS13C	ASCC1	CHCHD10	CEP63	SNRPN	FDFT1	TRAPPC9	ACVR1	AMER1	ATP7A	NDUFA8	IKBKG	SLC12A3	BRD4	KATNIP	KAT5	TYROBP	TSC1	PAH	MMACHC	SLC39A4	FA2H	GCDH	SACS	CARS2	GRN	IRF8	KIFBP	RAB18	TRAPPC10	MEG3	CSF1R	GPKOW	XRCC4	GNAQ	TBR1	METTL27	MBD5	PAX6	GNA11	APP	CDK5RAP2	ARMC9	UBTF	MT-TH	CDK5	WDR62	SLC25A22	SHMT2	PI4KA	TNFRSF11A	LIPT2	SMPD4	GNAO1	PEX1	IFNG	EML1	VCP	CLCN4	SCN3A	GTF2H5	OTUD6B	PIDD1	MAP2K2	BICD2	DPAGT1	EXOSC8	CLN5	EXOSC5	TBC1D20	FH	BCL7B	SLC46A1	GPHN	GON7	FOXH1	PEX19	CDH23	NCF1	FAM20C	PEX7	CRADD	INPP5E	POLR3B	PTCH2	TUBB3	PIGV	BRAF	DEPDC5	VPS37A	DCX	TRAPPC6B	RAC1	SNORD118	COL11A1	MED27	USB1	RECQL4	CPLANE1	PEX13	HRAS	POMT2	ELOVL4	SNX14	PIK3R2	BMPER	DONSON	CCDC88A	RNU4ATAC	YRDC	TUBGCP6	DOCK6	UGP2	SMARCC2	POMK	PHGDH	FGFR1	BICRA	PSEN1	SUZ12	CIT	OCA2	SHH	CIZ1	PNKP	TBC1D24	ERCC3	PSEN2	NUP133	PLAA	ATP1A3	NOVA2	KMT2D	SNCA	OSGEP	RNASEH2A	PDCD6IP	PEX11B	CEP85L	MYO5A	ODC1	MT-CO1	OFD1	PRKCZ	SETBP1	PEX12	VRK1	TOGARAM1	TARDBP	HSD17B10	TMEM222	SOX4	B9D2	NSRP1	SPG7	DLK1	H3-3A	CYB5A	CEP152	AKT3	ISG15	SLC35C1	AP1S2	ARHGEF9	B4GALNT1	FRMD5	DCHS1	CARS1	BUD23	NFIX	TUBG1	FARS2	NEK1	CTC1	CEP104	SNAP29	CIB2	PEX2	GATA3	RELN	TYMS	PRNP	DPM1	NPHP1	LONP1	PARS2	AHI1	STIL	RAB3GAP1	PPP1R12A	RNF113A	WFS1	CWC27	TBL1XR1	JPH3	RPGRIP1L	UBE4B	CCND2	PIGA	DYNC1I2	NODAL	ERCC1	ATP6V0A2	MAST1	ZNFX1	DPF2	OCLN	DISP1	SAMHD1	COL3A1	DDR2	USP9X	SLC2A1	NEUROD2	NEXMIF	MAP2K1	AP4S1	RNASET2	CDK6	PEX26	ZSWIM6	MT-CO3	PDZD7	USP18	SLC25A19	SNRPB	HEXB	SEPSECS	MT-ND1	PIGN	SCN1A	MEF2C	IARS2	SLC20A2	VLDLR	PC	SASS6	NSDHL	KCNT1	CASZ1	PHC1	B4GAT1	FBXO28	MVK	STX1B	ENPP1	NSMCE3	MAPT	ATP6V1A	CTNS	SLC25A15	COL18A1	TRIM8	HSPG2	PDHB	TCF4	SLC12A2	MT-TL1	CBY1	SMARCA4	ESPN	NDUFB8	TUBA8	ERCC4	GJA1	GPX4	PLK4	SCN2A	RTEL1	SMC1A	LRRK2	EXOC7	SLC29A3	ASPM	HLA-DQB1	MLXIPL	NDP	ATP13A2	FIG4	TOMM40	SMO	TMEM67	TRAPPC12	CNKSR2	PTCH1	CTNNB1	PRDM16	RMND1	QARS1	SRD5A3	EHMT1	C2CD3	DMXL2	XPC	SCN9A	GTF2E2	MT-ND6	CA2	PDPN	ETFB	CEP41	CENPJ	CDC42	GPSM2	NPM1	ATR	FRMPD4	CPLX1	SCO2	MT-TS2	ATP6V1B2	CLIP2	PRKDC	NCAPD3	ACTG1	ZNHIT3	KLHL15	SMARCD1	MT-TQ	NUP107	GAS1	SC5D	GBA2	TAF13	TMEM147	MLYCD	RTTN	AP4B1	WRAP53	TUBGCP4	GMNN	POGZ	ALG12	GABRG2	PTEN	EPG5	ATP6V0A1	MYORG	CLCNKB	MARS2	MPLKIP	COLGALT1	CEP120	PEX5	NIPA2	GIGYF2	NDUFAF3	TSEN34	CENPE	ADARB1	CDK13	MMP23B	EIF4G1	TGIF1	TCTN1	CYB5R3	ELN	HLA-DQA1	LAMB1	PSAT1	WHRN	SLC4A4	WDR26	DGUOK	MDH2	DISC1	CEP135	RNF125	SMARCE1	PIGP	TMX2	MUC1	NDUFA6	HCN1	CILK1	HNF1B	ZIC2	ALG8	VARS1	TERC	SUCLA2	TP53RK	LMNB2	GLYCTK	FUS	MYMX	MPDZ	HIVEP2	FOXG1	CCBE1	MCM7	PYCR2	RHOBTB2	FAT4	SPEN	PPIL1	ECM1	PPP2R2B	COL2A1	PIBF1	SKI	HDAC8	ACO2	NDUFS2	GRIA3	NHP2	PHACTR1	PEX3	GTF2IRD1	MINPP1	YY1	NOP10	PTH	PDE6D	CDON	VPS13A	CTDP1	TMEM70	TRAIP	RARS2	COL4A2	MYMK	USH1C	KNL1	DHCR7	PSMB8	NARS1	MGP	TDGF1	TBCD	LUZP1	ARHGAP31	STS	KIF5C	RFT1	RFC2	DKC1	WDR4	TBL2	POLG2	PPFIBP1	UBE3A	ARL13B	BLTP1	GTF2I	MT-ATP6	KCNAB2	CNTNAP2	QDPR	ISCA1	PSMG2	MAF	STX1A	CSNK2A1	STAT2	KCNA1	DNAJC30	GFM2	EIF2AK2	RERE	ATP6V1E1	DYNC1H1	IER3IP1	KRIT1	DENND5A	PCDHGC4	KARS1	DOCK7	SLC35A2	LAMC3	DDX3X	EXOSC3	XPA	PRUNE1	AP4M1	TARS1	MAN2C1	TMEM106B	PDHA1	BCAP31	SMC3	SLC26A2	CDC40	COG6	HERC1	SF3B4	SLC5A6	MBOAT7	ARID2	ARL3	FRAS1	TUFM	PEX14	KL	MT-CO2	CTNNA2	NIPBL	B3GLCT	OPHN1	GTF2IRD2	LIMK1	ATRX	DHX37	OPA1	PIGL	RTL1	NEDD4L	USH2A	TMEM270	YWHAE	FUZ	METTL5	PIGS	SHQ1	PLP1	MT-TW	B9D1	AHDC1
HP_CORTICAL_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORTICAL_DYSPLASIA	SCN2A	ASPM	SCN1A	TUBB	KIF2A	HSD17B4	TUBB2B	CUL4B	DYNC1H1	FIG4	RTTN	SCN1B	TSC2	SCO2	B4GAT1	ARHGAP31	SLC35A2	DEPDC5	VPS37A	SIN3B	PIK3CA	KIF5C	STX1B	DDX3X	ADGRV1	NPRL3	SCN9A	NEDD4L	GABRG2	COL3A1	NPRL2	PTEN	MTOR	ATP6V0A1	TSC1	FUZ	DLL1	SLC12A2	SIN3A	HCN1	YY1	AKT3	COPB2	CNTNAP2	NUP133	POMT1	ASNS	IFNG	FGFR1	GABRD	SNAP29	COL4A1	TUBB2A	ADGRG1	TUBB3
HP_INABILITY_TO_WALK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INABILITY_TO_WALK	CHCHD10	TFG	ZIC2	MYOT	CACNA1E	SPATA5	CDKL5	PLCH1	HTT	GRIA2	MFN2	TGIF1	SERAC1	SPG11	VPS41	NEFL	ASXL3	NODAL	EXTL3	ADAR	DPYD	KCNQ2	MTM1	SIX3	ASXL1	TMEM231	GSX2	CACNA1B	VPS51	EPM2A	SLC25A4	MFSD2A	SH3TC2	ST3GAL3	ATP8A2	ASAH1	SLC39A8	SGCG	LETM1	KLC2	TBC1D23	DMD	CACNA2D2	ZEB2	GRM1	DLL1	CELF2	POMT2	NDRG1	GAS1	VPS33A	STIL	SHH	JAG2	GFM2	GEMIN5	FOXH1	POMT1	FGF8	DYSF	VAPB	LARGE1	GLE1	MECR	PLA2G6	SPTLC1	VAMP2	MAFB	INTS8	GLRX5	FARS2	FA2H	CLTC	BVES	ARL6IP1	TRIM2	HNRNPK	CHKA	MECP2	ZNF526	HK1	DYM	ATN1	LRPPRC	PMP22	MPZ	EIF2S3	GNB1	BCAS3	CDON	SMC1A	GOSR2	GLI2	GRIA4	LMNA	GRIN1	CTBP1	PLP1	TMEM107	FOXRED1	CRPPA	STAC3	REPS1	FGFR1	ATL3	GPAA1	SLC38A3	DNAJC6	DHX30	KIF1A	FGF12	DES	STXBP1	PRUNE1	MORC2	ASPA	TOR1A	COQ2	TSEN15	SMN1	EPRS1	KLHL9	WDR45B	TGM6	ERBB4	SYT1	DOHH	SLC33A1	ALS2	GOT2	TBC1D20	FCSK	SMS	GMPPB	AP4S1	OPTN	SMN2	SELENON	FLNC	TNPO2	PURA	SLC6A17	MAPK8IP3	MT-TE	DSTYK	DARS2	CNPY3	ALDH18A1	TK2	ADSS1	GGPS1	SLC16A2	NEB	ATM	APTX	PIEZO2	SDHAF1	ERLIN2	CLN3	NTNG1	CRAT	ATP6V1A	SLC19A3	PGAP3	POLR3A	MDH2	SCN1A	MPV17	DCPS	UNC80	SDHD	LYST	NDUFA6	MAGEL2	SIGMAR1	CHRND	HNRNPH1	TRAPPC11	TWNK	MCM3AP	SYNE1	SYNJ1	SLC1A2	DISP1	VARS1	LYRM7	EMD	GDAP1	P4HTM	FXN	ACTL6B	SPTLC2	PANK2	C19orf12	RAB18	PLEC	TIMM8A	RHOBTB2	PTCH1	TBR1	MSTO1	UCHL1	GABBR2	TDGF1	ADAM22	SATB1	AP4B1	AGTPBP1	PSMC1	ADSL	PRX	PODXL	SLC17A5	DNM1L	NUP62	PEX1	VCP	MARS2	GABRA2	SCN3A	UQCRQ	OTUD6B	DPAGT1	VPS13A	CLN5	EXOSC5	SBF2	UBE4A	SEC31A	MYH7	PPP1R21	GTPBP2	UBTF	NGLY1	LAMA2	SBF1	POLR3B	ABCD1	ZC4H2	TBCD	SAMD9L	SLC39A14	FUS	VPS16	NEU1	TREX1	CPLX1	MAPT	PYCR2	SLC1A4	GEMIN4	NEUROD2	FKRP	DNAJB6	NHLRC1	TUBB3	SNX14	GABRB2	NTRK2	SLC12A5	SLC9A6	VAC14	FAR1	HNRNPA1	SLC12A6	EIF2AK2	NOTCH2NLC	STRADA	TRIM32	CACNA1I	HSD17B10	TELO2	DOCK7	STAG2	SLC35A2	TRAPPC2L	SDHB	CACNA1G	LMX1B	MAG	PPP2R1A	DNM1	SLC2A1	HACE1	IRF2BPL	SGCB	RPL10	GIPC1	PDHA1	ACTB	RRM2B	CAMK2A	PSMB1	INTS1	SELENOI	TNR	MTRFR	MEF2C	MBOAT7	LONP1	OGDHL	GNPTAB	LNPK	CLDN11	GRIK2	CAMK2B	HINT1	CTNNA2	SDHA	HYCC1	DYNC1I2	SLC2A3	ATP6AP2	MAST1	PEX16	ATAD3A	GALC	SMPD1	MT-ATP6	MRPS34	COPB1	MFF	PIGP	CLIC2	NTNG2	AIMP2	ABHD16A	KCNJ10	RNASEH1	LRP5	COPB2	CLN8	MED25	PIGS	SUCLA2	TBCK	ATL1
HP_OLIVOPONTOCEREBELLAR_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OLIVOPONTOCEREBELLAR_ATROPHY	ERCC6	MBTPS2	ATXN7	COQ2	TTC19	ATXN1	ATXN2
HP_RETROCOLLIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETROCOLLIS	ALS2	MAPT	PRKRA	SPG11	FUS	SIGMAR1	KMT2B	SPTLC1
HP_INCOMPREHENSIBLE_SPEECH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCOMPREHENSIBLE_SPEECH	CC2D1A	FOXP2	FXN	SRPX2	GRIN2A	SATB2	GATAD2B	SETBP1
HP_PARKINSONISM_WITH_FAVORABLE_RESPONSE_TO_DOPAMINERGIC_MEDICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARKINSONISM_WITH_FAVORABLE_RESPONSE_TO_DOPAMINERGIC_MEDICATION	VPS35	LRRK2	POLG	FBXO7	UCHL1	PLA2G6	PDE10A	TAF1	GBA1	GCH1	MAPT	SNCA	GIGYF2	ATP13A2	TK2	PARK7	ATP7B	PSAP	HTRA2	UQCRC1	RAB39B	TH	EIF4G1	DNAJC13
HP_DEFICIT_IN_PHONOLOGIC_SHORT_TERM_MEMORY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEFICIT_IN_PHONOLOGIC_SHORT_TERM_MEMORY	GSN	MAPT	RRM2B	RNASEH1	PRNP
HP_ABSENT_FACIAL_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_FACIAL_HAIR	SOX18	PKP1	JUP	FRAS1	POLR3A	TWIST2	HR	ODC1	ANAPC1	CWC27	KRT85	LRP1	ZBTB20	BRAF	EDA	AR	LMNA	RIPK4	ZMPSTE24	RECQL4	MBTPS2	POLR1B	POLR1C	TP63	EDARADD	POLR1D	PHGDH	TCOF1	SF3B4	GJB2	HOXC13	NECTIN4	DSP	MTX2
HP_HIGHLY_ARCHED_EYEBROW	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGHLY_ARCHED_EYEBROW	VPS35L	BRD4	ADAT3	KATNIP	MAN1B1	MN1	SZT2	SEMA3E	NSD2	CTCF	SPATA5	CPLANE1	EP300	KIAA0753	PIGY	ASXL3	BCOR	CTBP1	KDM6A	PIGV	AHI1	FAR1	INPP5E	MBD5	PGAP1	MEGF8	PIBF1	SPOP	ARMC9	TCTN3	SPECC1L	HDAC8	ARL3	COX7B	FGFRL1	CBY1	TGDS	CHSY1	H4C9	ZEB2	SHMT2	KAT6A	TMEM237	CLCN6	SMARCA2	SMPD4	TMEM94	CPLX1	SMC1A	PTPRF	CSPP1	OTUD6B	MAPK1	ACTG1	ECEL1	ZBTB18	CDC42	CEP290	CREBBP	LRPPRC	ASPM	TOPORS	ASXL2	OFD1	MASP1	RUSC2	FAM20C	HSPA9	LETM1	CRKL	FBXO31	TMEM67	HYLS1	TMEM218	SLC45A1	PACS1	COLEC11	EHMT1	CC2D2A	RAC1	MED27	KDM1A	DDX6	CHST3	TMCO1	FOXL2	KIF7	MKS1	PUS7	ARL13B	NECTIN1	CDH11	CEP41	PIGG	CLP1	SUFU	UGP2	BICRA	SPEN	TRRAP	NELFA	TMEM231	CSNK2A1	AUTS2	MAN2B1	PPP1CB	PDE6D	RAD21	CDC42BPB	ERMARD	BCR	NIPBL	KMT2D	STXBP1	TMEM216	TWIST2	CHD7	IGF1R	HDAC4	MEIS2	COLEC10	CYFIP2	TOGARAM1	CAMK2G	SETD5	LMX1B	SOX11	TAF6	B9D2	TASP1	MADD	KCNK9	ACTB	MAN2C1	ZNF423	PUF60	CEP120	SMC3	TTC5	LTBP1	NFIX	PGAP2	CDK13	CEP104	CTU2	NUP188	TCTN1	AFF4	NPHP1	ANKRD11	TFAP2B	KIFBP	RPS23	GJA5	TMEM138	RPGRIP1L	STRADA	H4C11	MESD	STAG2	PIGW	FRMD4A	PGAP3	TCTN2	C12orf57	PPP2R3C	TBCK	GJA8	PIGO	ZNF462	FAM149B1	KCNH1	RNF2	PRR12	ESCO2	GAD1	HNRNPH1	PIGS	TRIO	WASHC4	ZSWIM6	KIAA0586	TBX4	RPS6KA3	B9D1	PIGL
HP_ABSENT_PUBIC_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_PUBIC_HAIR	GJB6	CYP17A1	GNRH1	HR	NR5A1	EPS8L3	ITGB4	GJB2	AR
HP_HYPOPLASTIC_NIPPLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_NIPPLES	BRD4	HDAC8	RAD21	DLK1	KRT10	IKBKG	SETBP1	TBX3	CHRNG	TWIST2	TP63	CCDC47	SMC3	NIPBL	EDA	GNE	KIF15	ALG9	MEG3	ANTXR1	SMC1A	PTPRF	UBR1	USP9X	EDARADD	FIG4	TUBB	MGAT2	PORCN	RTL1	KDM6B	WNT7A	SLC25A24	PIGL	MEGF8
HP_SUPERNUMERARY_NIPPLE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPERNUMERARY_NIPPLE	UBA2	HNRNPK	STAG1	ZEB2	DHODH	IKBKG	KRAS	GPC4	HS2ST1	MASP1	PNPLA6	PIGW	CKAP2L	PIGY	MDH2	PPP2R5D	CHAMP1	COLEC10	COLEC11	ARHGAP31	PGAP3	TNRC6B	TFAP2B	TCF4	ZMYND11	KIAA0586	PIGV	ASXL3	PIGO	GPC3	KDM1A	MEGF8	DDX6	TP63	TMCO1	CSPP1	RNF216	NONO	GDF11	H4C9	HDAC4	CDH2	PGAP2	TFAP2A	KDM5B	PORCN	TRRAP	ASXL1	WDR19	PIGL	ACTB
HP_ABSENT_NIPPLE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_NIPPLE	TP63	RSPO2	SLC25A24	EDA	PTPRF	EDARADD	FIG4	CDH11	TWIST2
HP_LOW_SET_NIPPLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_SET_NIPPLES	GTF2H5	CARS1	H3-3A	ERCC3	PIGL	ERCC2	TARS1	RNF113A	GTF2E2	MPLKIP	KAT6A
HP_INTESTINAL_MALROTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTESTINAL_MALROTATION	BRD4	PIGN	ZMYND10	LRP2	RAD21	MYLK	DNAJB13	LETM1	CPLX1	GATA6	TTC7A	IFT43	FOXF1	LRRC56	HNRNPU	GPC4	NIPBL	GAS8	EP300	DNAAF4	OFD1	WNT4	RSPH3	IPO8	HIRA	DNAL1	HMGA2	BCOR	CHRM3	SALL4	STK36	CTBP1	KDM6A	CLMP	ODAD4	CAMK2A	KMT2D	NSD2	SETD5	CFAP300	ALG12	MYH11	TBX1	ACTG2	SIX1	SLC12A2	HDAC8	PI4KA	FARSB	UBE3B	CREBBP	ARID1B	MYRF	WASHC5	GP1BB	FGFRL1	ARVCF	CCDC65	DYNC2H1	DNAAF3	TMEM216	CFAP45	CENPF	LONP1	SMC3	LMOD1	MED12	RREB1	KAT6A	MMP21	DNAAF1	ODAD3	NEK1	TMEM94	FOXJ1	SMC1A	CCDC40	NME8	SMO	FLNB	FLNA	ACTA2	COMT	NPHP3	ODAD2	ASXL1	DSE	DNAI2	NOTCH2	DNAH1	DNAH5	ZFPM2	DNAH9	CCDC22	CFC1	SPAG1	SEC24C	TTC12	DNAAF11	CHST14	SPINT2	RPGR	FBN2	FLI1	DHCR7	DNAI1	DNAH11	ISL1	CFAP221	RSPH4A	NEK10	LEMD3	ERBB3	MKS1	HYDIN	SPEF2	CFAP298	RSPH1	ASXL3	ABL1	GPC3	CCDC103	TP63	MCIDAS	CCNO	RSPH9	RFX6	FGFR2	GAS2L2	DNAAF2	ZPR1	JMJD1C	DNAAF6	DNAAF5	SMAD2	TFAP2A	DHCR24	AMER1	DRC1	PORCN	CCDC39	ODAD1	EYA1	NODAL	UFD1	DHODH
HP_EPISODIC_VOMITING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISODIC_VOMITING	HNRNPK	MT-TQ	CDK8	LBX1	MT-ND2	NOTCH2NLC	CDC42BPB	FAH	MT-CYB	MT-ND6	NSD1	COQ2	MT-TV	MT-CO2	SLC25A15	MT-TW	ALAD	MT-ND1	MT-ND5	CPOX	CCM2	NLRC4	PDCD10	MT-TC	ACADVL	ALG11	MT-TL1	PNPLA8	PDSS2	ARG1	MT-TK	MT-ND3	KRIT1	MT-ATP6	MT-CO3	NFIX	MT-ND4	GK	HMGCL	MT-TS2	UQCRC2	MT-TF	ZEB2	GAMT	SUOX	CDK13	UNC45A	NEXMIF	NAXD	D2HGDH	SLC5A6	SHANK3	MT-CO1	HS3ST6
HP_HEMATOCHEZIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMATOCHEZIA	AMACR	PLVAP	ACVRL1	WIPF1	F5	SMAD4	CYP7B1	BMPR1A	TAOK1	PTEN	HPS1	TTC7A	IL10RA	GREM1	ENG	APC	ARPC1B	IFIH1	RBCK1	WAS
HP_TRACHEOESOPHAGEAL_FISTULA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRACHEOESOPHAGEAL_FISTULA	UBA2	DNAJC30	MYCN	SEMA3E	FANCB	VPS37D	WNT7A	FOXF1	UBE2T	RET	PDGFRB	CHD7	POLR1C	FANCD2	WRAP53	TERT	POLR1D	TCOF1	METTL27	SALL1	HESX1	BRCA1	SOX2	DKC1	SLC12A2	GREB1L	NCF1	NHP2	NCF2	GTF2IRD1	FANCF	NOP10	PARN	CYBA	POLR1B	BUD23	TINF2	WNT9B	FANCL	CYBB	FGF20	PROKR2	RTEL1	PALB2	TYMS	BAZ1B	ELN	PAICS	BCL7B	POLA1	LMBRD1	MLXIPL	BRCA2	NOTCH3	OTX2	FANCM	FBN2	SLX4	CYBC1	EIF4H	GTF2IRD2	LIMK1	ERCC4	FKBP6	ARNT2	RAD51C	RFC2	USB1	CTC1	ZIC3	TBL2	SOX3	TMEM270	FGFR1	MAD2L2	ITGA8	GTF2I	NPM1	FANCA	FANCI	FANCE	FANCG	CLIP2	BRIP1	HOXD13	GFRA1	RAD51	RFWD3	XRCC2	MID1	FANCC	STX1A	WBP11	NCF4	TERC
HP_INTUSSUSCEPTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTUSSUSCEPTION	PDGFRA	GREM1	BMPR1A	ARID1B	PTEN	STAT1	SMAD4	STK11	UNC45A
HP_ABNORMAL_STOMACH_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_STOMACH_MORPHOLOGY	FOXP3	BRD4	VPS37D	GLRB	MTMR14	CASP10	NFKB1	SMAD4	C1R	APC	LTBP4	TMTC3	TNXB	RTL1	ZNF699	CASZ1	IPO8	CCBE1	BMPR1A	ADAMTS3	LTBP1	FAT4	FBLN5	SPEN	METTL27	IFIH1	TERT	SKI	COL18A1	HDAC8	DHCR7	HSPG2	ARID1B	NEFH	RASGRP1	ABCC2	TCF4	MSH2	MSH6	NCF1	TBX3	ARFGEF2	STK11	TERF2IP	PEX3	TP53	GTF2IRD1	ITGA6	ZEB2	BUB1B	MED12	CYBA	CARD8	AXIN2	GLIS3	SMC1A	PIK3CA	CYBB	MLH3	HNF1B	ACD	ENG	MITF	PEX6	BCL7B	SLC2A10	MLXIPL	CDKN2B	TPRKB	LRBA	GON7	PEX19	AKT1	TRIP13	CRKL	CYBC1	EFEMP2	NFKB2	SRC	SYK	BCOR	PDGFRA	PRDM16	PTPRJ	LUZP1	PPP2R5D	STS	PEX1	FKBP6	TREX1	DYRK1A	DLC1	BCL10	HRAS	RFC2	FASLG	WDR4	TBL2	PTCH1	PEX13	BAP1	TGFB3	IL1B	FGFR2	PDGFRL	OTC	PDPN	WDR73	MLH1	DLK1	GTF2I	SDHC	SUFU	KCNAB2	KIT	COL1A1	CLIP2	FIG4	KANSL1	TFAP2A	MAPK1	BIN1	ARF1	NUP107	EP300	STX1A	GBA1	ITGB4	DHODH	CAVIN1	ATAD1	IGKC	DNAJC30	RAD21	PTCH2	BRAF	NPHS1	SH2B1	BUB3	SDHA	NUP133	NEDD4L	CAMTA1	CEP57	RERE	COL5A2	PAK2	BCR	LAGE3	NIPBL	FAS	CISD2	GABRD	OSGEP	PEX11B	SKIC3	ELF4	RAD54B	NRAS	GLRA1	ADAMTS2	LAMA3	RYR1	NAA10	CDKN2A	SLC6A5	MSH3	PRKCZ	PEX12	ERBB2	ATP7A	SERPINA1	MEG3	MYH11	NEK9	MGMT	PLEC	SKIC2	ADAMTSL2	FOCAD	PYCR1	PTPN12	MCC	CDH1	NCF2	SMC3	PEX5	MAP1B	PEX10	ZBTB7A	HDAC4	AAGAB	MDM2	LBR	BUD23	NFIX	RPS20	COL5A1	MMP23B	FGFR3	FLNA	PIEZO2	PEX2	BLM	VAC14	PLA2G4A	ALDH18A1	CTLA4	BAZ1B	MTM1	MUTYH	ELN	MC1R	SDHB	KLF6	RIPK1	WFS1	TP53RK	AURKA	BUB1	PEX14	DCC	CHST14	KRAS	LAMC2	PRKCD	MYF6	FLI1	CHEK2	PEX16	UBE4B	EIF4H	FLCN	TLR2	GTF2IRD2	CCND1	LIMK1	CDK4	DEF6	COL14A1	SEMA4A	PPP2R3C	SERPINH1	SYT2	IGHG2	CBLIF	ERMARD	AIRE	CTNNB1	TMEM270	RNF43	DNM2	PDE11A	LAMB3	POT1	PRKAR1A	IL1RN	GPHN	PEX26	PORCN	PLA2G2A	IRF1	BAX	NCF4	MAP3K7	GTF2H5
HP_GASTROPARESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROPARESIS	HNRNPK	PODXL	MAGEL2	POLG	SNRPN	TMEM70	SLC25A4	EIF2AK2	OCA2	SON	TYMP	MAP3K7	SNCA	NDN	ACTG2	PRKN	HTRA2	UCHL1	POLG2	MYH11	TWNK	RRM2B	RAD21	PARK7	LRRK2	AFF4	MPEG1	DNAJC6	MGAT2	PINK1	VPS13C	SYNJ1	ATP7A
HP_VOLVULUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VOLVULUS	VPS51	BRD4	NIPBL	HDAC8	RAD21	AP1S1	SMC1A	PACS1	ATRX	FOXF1	CHRM3	DIS3L2	VARS1	SMC3	MYH11	TEK
HP_ATROPHIC_GASTRITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATROPHIC_GASTRITIS	NFKB1	CDH1	CTLA4	IFIH1	AIRE	DEF6	LRBA
HP_COLITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COLITIS	FOXP3	DCLRE1B	PIK3CG	UNC13D	XIAP	GPR35	NCF4	RTEL1	POLA1	LRBA	MST1	NOD2	PRKCD	STXBP2	FAS	STAT1	PLCG2	PRF1	FERMT1	TGFB1	SYK	SKIC3	CARMIL2	ELF4	CASP10	BACH2	DOCK2	PIK3CD	WAS	CYBC1	HPS1	NLRC4	PSTPIP1	DEF6	RET	TNFAIP3	RFXANK	IL10RA	ACADVL	RFXAP	FCHO1	IL37	FASLG	CIITA	MYH11	TOM1	IL10RB	SKIC2	SEMA4D	IVNS1ABP	BCL10	RASGRP1	SLC37A4	INAVA	RFX5	PIGY	TCF4	FCN3	ELANE	CARD8	ZAP70	STX11	MASP2	TTC7A	OPLAH	GPIHBP1	MAP3K7	IL6
HP_INTESTINAL_BLEEDING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTESTINAL_BLEEDING	PTEN	TEK	APC	CTC1	BMPR1A	STK11
HP_ABNORMALITY_OF_THE_PERITONEUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PERITONEUM	BCL2	CALR	F5	MYO1E	TTC7A	EMP2	SMAD4	WT1	ANLN	PALB2	GAPVD1	BRCA1	NUP85	MYH11	MAGI2	NAB2	BRCA2	JAK2	INF2	APOL1	STAT6	CDKN2A	ANKFY1	CDC45	CFB	MEFV	NUP205	NUP107	MVK	NPHS1	KRAS	COL4A3	TBC1D8B	TP53	SERPINE1	SLC29A3	CD2AP	NUP93	RABL3	PAX2	PI4KA	PLCE1	BCL6	FOCAD	COQ8B	NPHS2	PALLD	ACTN4	ARHGDIA	TNFRSF1A	NUP160	F10	TRPC6	ELP1	PTPRO	ELANE	HLA-DRB1	NUP133	EWSR1	ARHGAP24	CRB2	NUP37	DAAM2
HP_PERITONITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERITONITIS	CD2AP	NUP93	PAX2	PLCE1	CALR	F5	MYO1E	FOCAD	COQ8B	EMP2	NPHS2	ANLN	GAPVD1	ACTN4	NUP85	MYH11	ARHGDIA	TNFRSF1A	NUP160	MAGI2	TRPC6	MEFV	JAK2	PTPRO	INF2	APOL1	ELANE	WT1	ANKFY1	CDC45	CFB	NUP133	NUP205	NUP107	MVK	NPHS1	COL4A3	TBC1D8B	ARHGAP24	CRB2	NUP37	BRCA1	DAAM2
HP_DUODENAL_ULCER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUODENAL_ULCER	SYK	PLG	CDKN2C	EP300	ARID1B	CDKN2B	CDKN1B	PLA2G4A	MEN1	XYLT2	CDKN1A
HP_GASTROINTESTINAL_ATRESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROINTESTINAL_ATRESIA	PIGN	ITGB4	MYCN	BUB3	TGIF1	TTC7A	FOXF1	CEP57	FGFR2	FANCB	MYH11	ZNF699	ERCC4	SUFU	RTTN	STAG2	FANCD2	DYNC2I1	CHRM3	CAMK2A	FGFR1	WDR35	SALL1	ZIC2	HESX1	GLI2	PLEC	PI4KA	RAD51C	EFTUD2	SOX2	TCTN3	MIR17HG	DISP1	CFAP45	CENPF	ZIC3	ITGA6	BUB1B	SIX3	NODAL	PAH	IFT80	RMRP	CLMP	MAMLD1	FANCL	DIS3L2	RFWD3	PROKR2	PAICS	POLA1	DYNC2H1	PPP1R12A	SON	NDUFB11	OTX2	SIX6	TRIP13	TDGF1	SPINK5	FBN2	FLI1	YY1	GMPPB	FOXH1	COX7B	RERE	AP1S1	SIN3A	ARNT2	DYRK1A	CDON	SOX3	PORCN	RFX6	FANCF	SHH	CHD7	DYNC2I2	AR	SMARCD1	GAS1	SLC25A12	PTCH1	KDM3B	DLL1	FGF8	BUB1	WBP11	HCCS
HP_POLYPHAGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYPHAGIA	NPAP1	MN1	GNAS	ALMS1	KCNJ11	SNORD115-1	SNRPN	MC4R	RERE	HTT	GABRD	MKRN3	PWRN1	CASZ1	IL6	BSCL2	SNORD116-1	GRN	PWAR1	PRKCZ	SPEN	SLC5A2	MBD5	PSEN1	SKI	MAGEL2	POMC	HSPG2	SETD2	ADCY3	MEN1	UCP2	PTPN22	MYT1L	MMP23B	HNF1A	NTRK2	SLC3A1	SIM1	OCA2	IFT74	SATB2	AGPAT2	ABCC8	GPR101	UBE4B	MAPT	PREPL	LEPR	CTNNB1	PRDM16	LUZP1	NDN	BRAF	SLC2A3	MAN1B1	UBE3A	YY1	BBS9	EZH2	PDPN	ATP10A	KCNAB2	PCSK1	LEP	ITPR3	HERC2	SH2B1	ADNP
HP_GASTRIC_ULCER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTRIC_ULCER	ARID1B	PLA2G4A	CISD2	GBA1	WFS1
HP_PANCREATIC_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATIC_HYPOPLASIA	HNF4A	INS	KCNJ11	KLF11	BLK	RFX6	HNF1A	GATA6	GCK	FOCAD	STAT3	CEL	DNAJC21	GLIS3	ABCC8	HNF1B	PAX4	PTF1A	PDX1	EFL1	SRP54	APPL1	SLC29A3	NEUROD1	SBDS
HP_ILEUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ILEUS	FOXP3	GSTM3	SOX10	CFTR	HFE	TGFB1	CLCA4	HMBS	SLC6A8	EDNRA	FAH	WT1	SLC11A1	SERPINA1	GUCY2C	SLC26A9	GCLC	CEACAM3	CEACAM6	STX1A	PPOX	SLC9A3	SLC6A14	KCNN4	EWSR1	MIF	DCTN4	FCGR2A	MTRFR	CAVIN1	HMOX1
HP_HEAD_TITUBATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEAD_TITUBATION	ALS2	LMNB1	NKX6-2	PI4KA	SPG11	FUS	AARS1	SPTBN1	EIF2AK2	GJC2	PLP1	HIBCH	VPS13A	TMEM63A	UCHL1	KIF1C	LAMA1	SIGMAR1	SPTLC1
HP_HYPOREFLEXIA_OF_LOWER_LIMBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOREFLEXIA_OF_LOWER_LIMBS	STIM1	FLRT1	MAG	HSPB8	ADSS1	MYOT	FASTKD2	MYH14	MYH7	HADHA	FBXO38	PMP22	PRKCG	GDAP1	LMNA	RUBCN	IFRD1	FBLN5	DYSF	IBA57	REEP1	FLNC	GAN	SPTLC2	HSPB1	LDB3	BICD2	ATP6AP2	DYNC1H1	KLC2	ATL3	MTPAP	DES	CRYAB	PDK3	HADHB
HP_PARESIS_OF_EXTENSOR_MUSCLES_OF_THE_BIG_TOE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARESIS_OF_EXTENSOR_MUSCLES_OF_THE_BIG_TOE	GCH1	IMPDH2	HSPB8	MFN2	NR4A2	HSPB1
HP_HEPATIC_NECROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATIC_NECROSIS	ETFA	SDHD	NHLRC2	DGUOK	HADH	TERT	ETFB	MET	ACADVL	TERC	MPV17	CTNNB1	ETFDH	TINF2
HP_CELIAC_DISEASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CELIAC_DISEASE	IGKC	HLA-DQB1	POU2AF1	SEMA4D	GPR35	IVNS1ABP	SATB2	SRCAP	SPIB	ODC1	MST1	TBC1D7	MED12	SOCS1	TNPO3	MMEL1	STAT5B	IL12A	MLXIPL	WAC	STAT3	TCF4	IPO8	IRF5	BICRA	TNFSF15	IL12RB1	IGHG2	ELN	HLA-DQA1
HP_CHOLESTATIC_LIVER_DISEASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOLESTATIC_LIVER_DISEASE	SHPK	HADHA	UNC13D	PERCC1	AMACR	STXBP2	HSD3B7	STX11	EPCAM	YARS1	VPS33B	DNASE2	NEUROG3	VIPAS39	NOTCH2	DHCR7	PRF1	CCDC115
HP_CONGENITAL_HEPATIC_FIBROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_HEPATIC_FIBROSIS	CSPP1	EOGT	DYNC2H1	SLC40A1	NOTCH1	RPGRIP1L	DCDC2	RPGRIP1	CEP290	TXNDC15	B9D2	TTC26	HJV	TMEM67	TCTN2	DYNC2I1	TCTN3	HAMP	TMEM107	TMEM237	SDCCAG8	TMEM216	INPP5E	IFT140	DLL4	PNPLA6	WDR35	DZIP1L	NPHP4	WDR19	NPHP3	INVS	RBPJ	ARHGAP31	DYNC2I2	DOCK6	B9D1	TRAF3IP1	IFT80	CEP164	CC2D2A	PKHD1	MKS1	NPHP1	TCTN1	IQCB1	TMEM231
HP_BILIARY_CIRRHOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILIARY_CIRRHOSIS	TGFB1	TTC26	POU2AF1	DCDC2	KRT18	CFTR	SPIB	ABCB4	IRF5	LBR	NPHP3	TNFSF15	TNPO3	MMEL1	FCGR2A	IL12RB1	IL12A	WDR35	PKHD1
HP_HYPOTENSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOTENSION	VPS35	CYP11A1	POU2AF1	KIT	COL5A2	SLC12A3	CLCNKB	SNCA	CYP11B2	SCNN1A	SPG11	CAV1	SOX3	SLC25A20	REN	TBX19	CFH	PROP1	SRSF2	PSAP	DNAJC13	MRAP	ATP7A	ASXL1	CYB561	COQ2	SPIB	CASR	AGT	HMGCL	HELLPAR	DBH	TET2	GIGYF2	AIP	KCNJ1	IRF4	STAR	FMR1	IRF5	LRRK2	HEXB	EIF4G1	PRKAG2	HSD3B2	SIM1	RYR1	CDH23	NR3C2	OTX2	MEN1	LMNB1	MMEL1	KYNU	DAXX	NTRK1	ABCA3	LEPR	ARSA	LHX4	SERPING1	GMPPA	GLI2	TXNRD2	SLC12A1	TTR	CBL	DDC	IL12RB1	DCTN1	NFKB2	RUNX1	HESX1	MUC1	CD46	CFI	MC2R	GBA1	AAAS	TNPO3	IL12A	ACE	ELP1	PDE4D	VHL	SAA1	LEP	COL1A1	ACAT1	POU1F1	SFTPB	ALB	NNT	SFTPC	SERPINA6	COL5A1	FOXA2	TNFSF15	GSN	AGTR1	ATRX	CHRNA3	GNA11	GBE1	CHCHD2
HP_AORTIC_ROOT_ANEURYSM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AORTIC_ROOT_ANEURYSM	TGFB3	MYPN	NPR3	DNAJB11	SLC2A10	LOX	FOXE3	COL5A2	PKD2	FBN1	MYLK	TGFBR1	B3GALT6	ERCC8	IPO8	TGFB2	PGM3	TPM2	MFAP5	AEBP1	ERCC6	TGFBR3	GANAB	ANGPTL6	LMNA	ACTA2	MYH11	HEY2	CARS1	THSD4	SPECC1L	FMR1	KCNH1	PRKG1	ATP2B1	BICC1	SMAD2	MAT2A	DNMT3A	CHST3	B3GAT3	ROBO4	COL1A2	TGFBR2	ENG	NKAP	COL1A1	IFT140	ALDH1A2	PIGN	COL5A1	PKD1	KANSL1	THSD1	ALG9	ELN	FBN2	TPM3	SMAD4	MID1	ALG5	COL3A1	AFF4	PPP1CB	SMAD3
HP_VASCULAR_DILATATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VASCULAR_DILATATION	CHRNG	SEMA3E	VPS37D	NDE1	FOXE3	COL3A1	BGN	PKD2	STAT1	FBN1	LTBP4	TMTC3	LMNA	CASZ1	IPO8	RNASEH2C	PRKAR1A	ALDH18A1	RNU7-1	TPM2	LTBP1	SETD2	TGFB2	FBLN5	ERCC6	TGFBR1	PLOD1	SPEN	ACTA2	METTL27	ENPP1	SKI	SMAD2	SPECC1L	HSPG2	MNX1	ATP2B1	MAT2A	TONSL	ARFGEF2	HLA-DRB1	GTF2IRD1	NPPA	TGFBR2	ZMPSTE24	ENG	NKAP	IFNG	THSD1	MYH11	FBN2	PKD1	RNASEH2B	EPHB4	FLNA	SMAD6	BCL7B	NPR3	SLC2A10	MLXIPL	SMAD3	RYR2	ADAMTS19	COL1A1	NOTCH3	LOX	NCF1	ABCC6	CRKL	HGD	EFEMP2	BRF1	ERCC8	RIN2	PRDM16	LUZP1	PGM3	UBR1	MKS1	C12orf57	FKBP6	TGFBR3	ANGPTL6	RFC2	HNRNPK	PCNT	DPH5	MED12	TBL2	APC2	HEY2	TGFB3	TAB2	PDPN	PRKG1	RAF1	GTF2I	RASA1	ATP6V1A	KCNAB2	ATP7A	MARS2	CLIP2	TREX1	ALDH1A2	AEBP1	PIGN	KANSL1	MAPK1	PTEN	ARF1	NKX2-5	MID1	PRKCSH	STX1A	CAVIN1	PPP1CB	GATA5	NOD2	DNAJC30	MYPN	ELN	SPTBN1	NEDD4L	GAA	RERE	COL5A2	BCR	COL4A1	GABRD	RNASEH2A	EXT2	MYLK	PKP2	CHD7	IL12B	MLX	OFD1	PRKCZ	GANAB	CRB2	FARSB	SMAD4	PEX12	NSD1	LRP5	DNMT3A	FOCAD	NSMCE2	CHST3	RPL10	MFAP5	MAP1B	HLA-B	ROBO4	RAI1	PTPN22	BUD23	GMPPB	SEC61A1	TSC1	LSM11	COL5A1	MMP23B	NOTCH1	SLC25A24	ALG5	BAZ1B	AFF4	FLNB	DNAJB11	TMEM67	PBX1	GJA5	STAT3	UBE4B	SOX10	EIF4H	B3GALT6	PLOD3	TSC2	GTF2IRD2	LIMK1	IFIH1	SALL4	WDR19	GJA8	NF1	SAMHD1	ADAR	ERMARD	BRAF	EXT1	PAM16	TOM1	CARS1	TMEM270	THSD4	FMR1	KCNH1	SEC63	BICC1	GGCX	PDE11A	B3GAT3	MYH3	COL1A2	IFT140	P4HA2	PTPN11	ALG9	TPM3	NODAL
HP_VARICOSE_VEINS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VARICOSE_VEINS	GJC2	FIBP	CLCNKB	SEC24C	GP1BB	ARVCF	RASA1	JMJD1C	PIEZO1	COL3A1	EPHB4	G6PC3	KIF5A	FOXC2	SMAD3	RREB1	VHL	HIRA	TBX1	SLC29A3	NOTCH3	PIK3CA	AEBP1	FLT4	ENG	COMT	UFD1	GBA1	SMAD2	SLC12A3
HP_OVERRIDING_AORTA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVERRIDING_AORTA	TMEM270	DNAJC30	BCL7B	FGFR2	MLXIPL	VPS37D	NDUFB11	GTF2I	CHD7	NCF1	GTF2IRD1	TGDS	NEK9	RAI1	EIF4H	COX7B	BUD23	CLIP2	GTF2IRD2	LIMK1	FKBP6	METTL27	RFC2	STX1A	BAZ1B	ELN	TBL2	HCCS
HP_ABNORMAL_VENOUS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VENOUS_MORPHOLOGY	ZMYND10	FIBP	PLXND1	DNAJB13	BAP1	FOXF1	LRRC56	COL3A1	ATP6V1E1	C1R	EPHB4	PIK3CA	SRCAP	KIF5A	FOS	PTEN	ZNF699	GAS8	PTDSS1	DNAAF4	GNB2	OFD1	RSPH3	HIRA	ZMPSTE24	PRKCD	SLC29A3	CCM2	DNAL1	ERCC8	PDCD10	STK36	AEBP1	PLOD1	GNAQ	ODAD4	COG4	CFAP300	SMAD2	TBX1	ATP6V1A	CLCNKB	GP1BB	ADH5	ARVCF	PYCR1	CCDC65	SLC39A13	DNAAF3	ZIC3	G6PC3	FOXC2	AGGF1	TCF4	RREB1	RAI1	MMP21	DNAAF1	ODAD3	UQCRFS1	AKT1	FOXJ1	ANTXR1	CCDC40	NME8	NOTCH3	LEMD2	SLC25A24	PRKACB	COMT	ODAD2	DNAI2	DNAH1	DNAH5	BANF1	SMOC1	DNAH9	CREBBP	POLR3A	CFC1	SPAG1	GPR35	EP300	SEC24C	TTC12	CWC27	ACVR2B	MST1	DNAAF11	FANCB	NDP	PIEZO1	UBE2A	RPGR	TEK	SMAD3	DNAI1	DNAH11	GLMN	CFAP221	RSPH4A	PPARG	ATP6V0A2	NEK10	HYDIN	WT1	BSCL2	SPEF2	CFAP298	ALX4	NKX2-6	RSPH1	PPP1R15B	KRIT1	CCDC103	GJC2	SEMA4D	MCIDAS	CCNO	RSPH9	MSX2	ATN1	GAS2L2	DNAAF2	RASA1	JMJD1C	DNAAF6	SMG8	DNAAF5	MED25	ATP7A	CIROP	VHL	PROS1	PROC	FLT4	KDM3B	CAVIN1	CAV1	DRC1	LMNA	FADD	RBM10	CCDC39	ENG	AGPAT2	MID1	ODAD1	UFD1	GBA1	TMEM260	SLC12A3
HP_DEEP_VENOUS_THROMBOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEEP_VENOUS_THROMBOSIS	PROS1	MTHFR	SERPINC1	MTRR	MMACHC	F5	AKT1	F2	F9	PROC	PMM2	EPAS1	THBD	PIGA	SERPIND1	ALG6	PIEZO1	F8	UBA1	F13A1	HABP2
HP_RIGHT_AORTIC_ARCH_WITH_MIRROR_IMAGE_BRANCHING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIGHT_AORTIC_ARCH_WITH_MIRROR_IMAGE_BRANCHING	STRA6	TBX1	ESS2	DGCR6	DGCR2	CRELD1	DGCR8
HP_FAT_MALABSORPTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FAT_MALABSORPTION	ABCB11	HLA-DQB1	GSTM3	PNLIP	HSD3B7	PRSS2	SRP54	LBR	CYP7B1	PTRH2	SPINK1	CTRC	SERPINA1	LIPA	SAR1B	ANTXR2	TGFB1	PRSS1	PERCC1	GCLC	DNAJC21	ATP8B1	APOB	SLC9A3	KCNN4	EFL1	AKR1D1	AMACR	DCTN4	DZIP1L	MTTP	SBDS	SHPK	CFTR	PEX12	HFE	CLCA4	EDNRA	SLC10A2	CCDC47	SLC11A1	MPI	SLC26A9	PMM2	COX4I2	CLMP	CEACAM3	EPCAM	PKHD1	PTF1A	CEACAM6	STX1A	SLC51B	SLC6A14	SLC7A7	MIF	FCGR2A	TJP2	HMOX1	ACOX2	HLA-DQA1
HP_VASCULITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VASCULITIS	DNASE1L3	NOD2	NLRP3	PNP	CASP10	WIPF1	FAS	IL12RB1	NFKB2	ACP5	PRTN3	TREX1	C4A	PRKCD	IL10	CCR1	PGM3	MEFV	DOCK8	ICOS	TNFRSF13C	SYK	IRF2BP2	HLA-B	IFNGR1	WAS	TLR4	IL12B	HLA-DPB1	MLX	OTULIN	MVK	CFI	XIAP	SH2D1A	SCN10A	ADA2	MS4A1	KLRC4	ARPC1B	IFIH1	FASLG	IL12A	CD244	SCN11A	SCN9A	CD81	STAT4	IL23R	RASGRP1	CIITA	MYD88	TNFSF12	HLA-DPA1	NFKBIL1	HLA-DRB1	TNFRSF1A	UBAC2	SLC22A4	PTPN22	P4HA2	NFKB1	POLR3F	CR2	CD19	TNFRSF13B	IL12A-AS1	CTLA4	ERAP1
HP_ARTERIOSCLEROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTERIOSCLEROSIS	PIK3CG	LMNA	FOXE3	LDLRAP1	CSF2RA	LIPA	ABCA1	MYLK	MYH11	ABCC6	TGFB2	ERCC6	ACTA2	LDLR	ENPP1	NPC2	BRCC3	XYLT1	APOE	SMPD1	CELA2A	HLA-DRB1	MAT2A	HTRA1	FBN1	APOB	ENG	ZMPSTE24	ERCC4	APOA5	LOX	THSD1	XYLT2	PNPLA2	SMAD4	ZNF687	TGFB3	LCAT	PPP1R17	TNXB	ALMS1	ERCC5	CSF2RB	GHR	ABCG5	CYP27A1	ESR1	GGCX	WRN	ABCG8	NPC1	TGFBR1	ERCC8	APOA1	CAT	MFAP5	PPARG	TGFBR3	HGD	ANGPTL6	AGXT	HEY2	PRKG1	ERCC2	EPHX2	SMAD2	SMARCAL1	GLB1	LIPC	CEP19	NEU1	APOA2	ERCC3	SERPIND1	PCSK9	ELN	ANTXR1	LRP6	ASAH1	GPIHBP1	TGFBR2	SC5D	COL3A1	CYP7A1	SMAD3
HP_BUDD_CHIARI_SYNDROME	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BUDD_CHIARI_SYNDROME	PIGA	TERC	CD55	JAK2	F5	MPL	TET2	TERT	TINF2
HP_HYPERTENSION_ASSOCIATED_WITH_PHEOCHROMOCYTOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTENSION_ASSOCIATED_WITH_PHEOCHROMOCYTOMA	VHL	SDHD	NF1	SDHB	RET	SDHC	KIF1B	FH	SLC25A11	EPAS1	TMEM127	MAX	MDH2	DNMT3A	SDHA	DLST	SDHAF2
HP_NEONATAL_RESPIRATORY_DISTRESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_RESPIRATORY_DISTRESS	ZMYND10	SOX9	SNAP25	DNAJB13	CHRNG	DNAH5	NUP214	NPHS1	HACD1	ITGA3	GLYCTK	MTMR14	CSGALNACT1	CUL7	ARSL	PLAGL1	KIAA0753	FOXF1	LRRC56	GPC4	SFTPB	FBN1	MLYCD	GAS8	CPT2	COLQ	PLPBP	DNAAF4	GNB2	OFD1	RSPH3	ALDH7A1	NR1H4	RYR1	DNAL1	CANT1	PLEC	CCDC40	STK36	TRIP4	ODAD4	DRC1	ODAD2	NPC2	CFAP300	SUCLG1	SPOP	DNAAF6	SHPK	DPM2	UBE3B	MADD	SBDS	ENPP1	PBX1	CCDC65	SMARCA2	TOR1A	DNAAF3	PDHA1	ALG14	CCDC39	SPAG1	DNM1L	SCN4A	RAPSN	DNAJC21	KAT6A	DNAAF1	ODAD3	SMPD4	PEX1	KIF22	FOXJ1	NME8	RSPH1	ABCA3	HSD3B2	ASXL1	DNAI2	MTM1	DNAH1	LONP1	ABCB11	DNAH9	PAX2	GLUL	COX14	TTC12	TRAF7	PLCB3	DNAAF11	LAMB2	DST	RPGR	DMPK	MYF6	RNF168	DNAI1	DNAH11	CFAP221	RSPH4A	NKX2-1	XYLT1	COX6A2	NEK10	RSPH9	NSF	GMPPA	KNSTRN	SLC27A4	NALCN	HYDIN	PIK3CD	FGFR3	NDUFB10	SPEF2	CFAP298	NFASC	GPC3	RUNX2	MT-TT	CCDC103	PTCD3	HYMAI	MCIDAS	CCNO	DNM2	GALK1	ABCB4	GAS2L2	DNAAF2	MDFIC	ATP8B1	DNAAF5	MYH3	SLC30A9	RALGAPA1	GRM7	SNRPB	ASCC1	ALDH1A2	ZC4H2	BIN1	ODAD1	WT1	SRP54
HP_ABNORMAL_PELVIC_GIRDLE_BONE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PELVIC_GIRDLE_BONE_MORPHOLOGY	CHRM3	ARSB	ZIC2	COL2A1	VPS37D	GDF5	IFT43	PLCH1	ZBTB20	GPC4	MYH8	TGIF1	PIGY	RNU4ATAC	NODAL	FRAS1	GNPTAB	RYR1	FZD2	DPYSL5	SIX3	TRPV4	NSD2	SIX1	SLC26A2	SLC35A3	SEC24D	SH3TC2	TBXAS1	DYNC2H1	TPM2	ATP6V1E1	ZIC3	MBTPS2	TRAF3IP1	IARS2	COL6A1	CCDC8	COL10A1	DLL1	OBSL1	CFL2	PCNT	RINT1	HNRNPR	TAF1	NALCN	VPS33A	TMEM67	ZNF407	PALB2	NIN	COL6A2	COL1A2	HK1	PTH1R	CREBBP	NRCAM	POLR3A	BRCA2	POMT1	DDRGK1	RPS6KA3	TRPS1	CFAP410	PIGN	GLE1	VIPAS39	WNK1	KAT6B	AARS1	PRG4	ERGIC1	PTPN2	COL1A1	PPP2R5D	MYL2	IL6ST	B2M	LONP1	FKBP6	DYM	VPS33B	ATAD3A	RUNX2	HSPG2	CSPP1	COG1	COL12A1	BAP1	MAD2L2	ATN1	SMARCAL1	SLC39A13	FGF8	ACP5	ATP6V1A	CDON	RECQL4	GLI2	MACF1	COL11A2	IL2RA	BRIP1	AEBP1	EXT2	COLEC11	COL9A1	BICD2	NDN	EYA1	DHODH	MAN2B1	EXOSC3	RAD21	FLNB	LETM1	FGFR1	SNORD115-1	ABCC9	KDM6A	GABRD	ADA	SHOX	HNRNPK	GSC	INTU	KMT2D	RNF13	SELENON	UBE3B	THOC2	FGFR3	SLC25A1	FLNA	UFSP2	GMPPB	B3GALT6	GPC3	PYCR1	WNT3	LRP5	KIF22	UMPS	WDR35	CANT1	CTSK	VAC14	BAZ1B	CCDC22	MRPS25	PHF6	PIEZO2	FBLN1	FLI1	FOXH1	EIF4H	SHH	IFT140	MCTP2	C12orf57	TMEM53	CAV1	NXN	ITGA7	PIGO	PAM16	MAGEL2	IFITM5	SRCAP	AP4E1	KIF1A	IRF5	THRA	COMP	MASP1	TRIP11	SOX9	MMP13	HNRNPH1	TRAPPC11	TGFBR2	DYNC2I1	SYT2	MATN3	SLC35D1	PEPD	PLEKHM1	COL5A1	DISP1	SIM1	AMER1	FANCC	ARNT2	ATP7A	CNOT3	RPS15A	PRKACB	BRD4	HYAL1	HLA-B	GLRB	STIL	KCNK4	SNRPN	FGFR2	PRDM5	COL3A1	MMP9	MKRN3	COL9A2	GLI3	NANS	MEG3	IFT52	OCRL	CTBP1	METTL27	DVL3	MBD5	DYNLT2B	AP4B1	INPPL1	TGFB1	WNT5A	FGFRL1	TONSL	SMOC1	PEX5	GJB2	CCDC47	OSTM1	IFT80	CHD4	CPLX1	SLC5A7	VCP	AP3B1	WNT7A	FAT4	VANGL1	BCL7B	SMAD3	TRAIP	IFT81	SEC23A	NCF1	MYH3	EFEMP2	SLC6A9	RERE	SMC1A	SMAD4	PORCN	HACE1	FKRP	MUSK	FBN1	IFIH1	FANCI	BMPER	PIGG	ERCC6	GLB1	HERC2	CRTAP	BICRA	CEP120	ARSK	XRCC2	CENPE	BMPR1B	HEATR3	OCA2	WDR19	COL9A3	SLC10A7	DVL1	ELN	NEB	PTRH2	ATP1A3	OSGEP	ZNF469	MKKS	CEP85L	SLC18A3	TWIST2	GLRA1	RPS19	HOXA11	FKBP10	EIF4A3	PRKCZ	SETBP1	HDAC6	PPP2R1A	EVC2	MYO18B	NUP85	DLK1	TWIST1	POR	WASHC5	PUF60	PTEN	ALG9	ORC1	FANCF	PAFAH1B1	TDGF1	GLI1	BUD23	NFIX	SNAP25	CTC1	SMO	SOST	PGAP2	KLHL41	TBX4	TNNI2	OGDHL	SH3PXD2B	LIFR	TPM3	FANCM	UBE4B	GAS1	SCYL2	PIGW	PLK4	ATP6V0A2	PPP2R3C	IDS	TBX15	DDR2	USP9X	COL11A1	GPHN	IDUA	GALNS	TNFRSF1A	B3GAT3	FANCE	PTCH1	FANCG	AP4S1	LMX1B	RSPO2	MAP3K7	GUSB	UBA2	EXTL3	FANCB	HLA-DRB1	CUL7	KIAA0753	UBE2T	IFNGR1	ACTA1	CASZ1	IPO8	IDH1	LEMD3	PLOD1	KIAA0319L	SHPK	TRIM8	DHCR7	SLC12A2	RSPRY1	LGI3	TIMM22	TET3	MMP2	CCN2	EXT1	GJA1	GPX4	TTC21B	POMT2	CD96	LAMA5	FREM2	DYNC2I2	CDCA7	MLXIPL	MTX2	MYH7	PCYT1A	PLCB3	CHRNG	LARGE1	TRAPPC12	PRDM16	TGFB2	FARS2	KIAA0586	HDAC4	RAD51C	ANKH	PDPN	FANCA	INPP5K	ATR	COL6A3	SLC2A10	CLIP2	HACD1	FIG4	KANSL1	ZC4H2	RFWD3	ROR2	LMNA	ENPP1	SRP54	ATAD1	EBP	CSGALNACT1	CENPJ	DYNC2LI1	PWRN1	MED12	GNB2	CCR6	ADAMTS2	MYBPC1	ERCC8	SLC6A5	PWAR1	GMNN	FBLN5	BRCA1	SBDS	DMP1	TNNT3	CHAT	DDB1	LTBP1	CHST3	TCTN3	RETREG1	MECOM	B3GLCT	UNC45A	MMP23B	POLR1A	ALDH18A1	PHEX	RMRP	AFF4	ERCC1	ANKRD11	SF3B4	AKT1	FUZ	EP300	FUT8	ATRIP	DCHS1	IHH	SIL1	WDR26	NTRK1	CCN6	XYLT1	NAA10	ERCC4	COL25A1	RBBP8	COX8A	LBR	EZH2	SNRPB	KDM3B	ANTXR1	CD247	CEP152	MAP3K20	ABCC6	LMNB2	CLCN3	AFF3	COL5A2	DSTYK	HIVEP2	FN1	EXOC6B	POP1	SCN9A	COL13A1	SPEN	PIGV	HPRT1	SKI	HDAC8	SIK3	GTF2IRD1	GNS	CLCN7	SMARCA2	POC1A	ECEL1	IFT172	SEC31A	VPS13B	BGN	TTN	VAMP1	NGLY1	ANKRD55	AIFM1	RAB11B	TBCD	LUZP1	EED	RFC2	FANCD2	TBL2	GEMIN4	GATA1	IL2RB	NEPRO	GTF2I	FHL1	TRAPPC2	STAT4	KCNAB2	TMEM251	TFE3	CCBE1	NKX3-2	NELFA	MYO9A	EVC	STX1A	VDR	DNAJC30	NPAP1	ARX	GNPAT	RIPK4	YWHAE	GNPTG	RAB23	TELO2	COLEC10	STAG2	SNORD116-1	SLC35A2	PTPN22	RBM8A	AP4M1	SERPINF1	ADAMTSL2	TOR1A	SMC3	EIF2AK3	PRIM1	DNAJC21	LRP4	COG6	ZMPSTE24	USP7	SHROOM4	IRX5	GJB6	PYCR2	SATB2	GRIP1	SLX4	AGRN	NIPBL	GTF2IRD2	POLR3B	LIMK1	FANCL	PGAP3	LMOD3	PIGL	HHAT	RTL1	TMEM270	NSDHL	PIK3C2A	OFD1	GORAB	APC	CLTCL1	RAD51	PRKACA
HP_WORMIAN_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WORMIAN_BONES	PLOD2	SH3PXD2B	SP7	CTSK	ELN	COL1A1	NOTCH3	BMP1	SETBP1	NOTCH2	P4HB	ATP7A	COL1A2	LMNA	AIFM1	WNK1	SMO	MESD	KDELR2	ATP6V0A2	ZMPSTE24	ALDH18A1	PYCR1	MEG3	SCN9A	FKBP10	SEC24D	RTL1	HPGD	RUNX2	PPIB	PAM16	FBLN5	CCDC134	DLK1	IFITM5	KIF1A	THRA	P3H1	TAPT1	TENT5A	LRP5	PDGFRB	CREB3L1	BCL11B	RETREG1	NFIX	CHD4	POGZ	CRTAP	MSX2	LEMD2	HSPG2	PRKG2	ARID2	AFF4	MTX2	FLNA
HP_AORTIC_DISSECTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AORTIC_DISSECTION	GATA5	TGFB3	SMAD3	ABCC6	LOX	FOXE3	COL3A1	BGN	MYLK	TGFBR1	TGFB2	MYH11	MFAP5	PLOD1	TGFBR3	ACTA2	ANGPTL6	HEY2	THSD4	EMILIN1	PRKG1	SMAD4	SMAD2	FBN1	MAT2A	SMAD6	IPO8	HLA-DRB1	TGFBR2	HLA-B	SLC2A10	ENG	PTPN22	P4HA2	THSD1	NOTCH1	ELN	NKX2-5	ENPP1
HP_SPONDYLOEPIMETAPHYSEAL_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPONDYLOEPIMETAPHYSEAL_DYSPLASIA	B3GALT6	COL2A1	EXOC6B	DDR2	NANS	KIF22	IARS2	DDRGK1	MATN3	DYM	BGN	RSPRY1	MMP13	AIFM1	PAPSS2	TONSL	ACAN
HP_SKELETAL_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKELETAL_DYSPLASIA	BMPR1B	EXTL3	TREM2	CCDC141	FGF17	ARSB	IARS2	TYROBP	COL2A1	MATN3	RPL10	WDR19	ACP5	TRIP11	B3GALT6	LBR	FGF8	PEX7	HDAC6	ACAN	FN1	FLNA	COL11A1	POLR1C	NANS	POP1	IDH1	DYNC2I1	IDUA	DPYD	SEMA3A	KRAS	DCC	SLC26A2	WDR35	TRPV4	SFRP4	ENPP1	TGFB1	GLI3	COL11A2	PEX3	PAPSS2	RECQL4	GNS	COL9A1	GPX4	TTC21B	EXOC6B	IFT80	RMRP	EPCAM	TMEM67	HSPG2	ACTG1	FGFR3	PTH1R	PEX6	DYNC2I2	IFT172	DYNC2H1	DDRGK1	SEC23A	PCYT1A	NPR2	BGN	PEX19	GJA1	CFAP410	DUSP6	LOXL3	HSPA9	AIFM1	TBXAS1	LONP1	PEX1	GLB1	NMNAT1	KIF7	GEMIN4	PEX13	NEU1	COL9A3	COL3A1	DYM	ALG3	SMARCAL1	NDNF	SLC39A13	PHYH	TACR3	TRAPPC2	ANOS1	SPRY4	RUNX2	RNU4ATAC	FLRT3	LTBP3	PIK3C2A	NKX3-2	CEP120	ALG6	TMEM165	GDF5	SRP54	LIFR	CDKN1C	PROK2	CHD7	DYNC2LI1	POLE	PEX11B	PERCC1	VPS33A	ABCC9	POLR1D	SEC24D	TCOF1	PEX12	CWC27	SBDS	B4GALT7	HESX1	STAC3	DMP1	ACTB	HS6ST1	MBTPS1	FGFR1	SF3B4	PTEN	ALG9	CTSA	PEX5	KCNJ8	PEX10	EIF2AK3	CHST3	DNAJC21	DCHS1	POLR1B	KIF22	SMO	CANT1	GNAS	PEX2	COL9A2	COL10A1	UFSP2	AKT1	NOTCH2	PEX14	P4HB	ALDH3A2	FEZF1	PEX16	KANSL1	FLNB	IHH	CCN6	XYLT1	IL17RD	MAP3K7	IFT140	LRRK1	TMEM53	LEMD3	EFL1	FAT4	ANKH	NF1	MMP13	PAM16	NLRP3	CDH3	COMP	DDR2	SOX10	TONSL	ANAPC1	PROKR2	PEX26	RSPRY1	WDR11
HP_BONE_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BONE_PAIN	PML	VDR	IRF2BP2	TREM2	TYROBP	CYP27B1	TNFSF11	KIT	FIP1L1	FOXE1	FGF23	PTPN11	NABP1	ZBTB16	CLCN5	PSAP	VCP	GATM	MINPP1	LEMD3	HABP2	TNFRSF11A	SLCO2A1	SRSF2	POLE	ASXL1	STAT5B	ENPP1	TGFB1	DMP1	HPGD	GNAS	SERPINF2	NPM1	STAT3	TET2	GBA1	TNFRSF1A	EXT1	ELANE	CLCN7	IDH1	SLC34A1	AP2S1	AGXT	CYP19A1	PRKAR1A	PHEX	ZNF687	CCND1	NDUFAF6	WNT3A	NOTCH2	TRPS1	LPIN2	PSMB8	SNX10	SQSTM1	DKK1	CBL	ATP7B	RUNX1	CDC73	EHHADH	PTH1R	TCIRG1	SLC34A3	RARA	CYP2R1	NUMA1	SCARB2	BCOR	WNT1	IDH2	TBL1XR1	KIF1B	TEK
HP_MULTIPLE_EPIPHYSEAL_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_EPIPHYSEAL_DYSPLASIA	MATN3	COL9A1	RNU4ATAC	COL2A1	KIF7	PEX7	PHYH	TRAPPC2	EIF2AK3	SLC26A2
HP_SPONDYLOEPIPHYSEAL_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPONDYLOEPIPHYSEAL_DYSPLASIA	COL2A1	ACAN	CCN6	COL11A1	RPL10	TRPV4	MBTPS1	SMARCAL1	TRAPPC2	RNU4ATAC	NMNAT1	CHST3	IARS2
HP_EPIPHYSEAL_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIPHYSEAL_DYSPLASIA	COMP	EXTL3	COL9A3	ARSB	DYM	NPR2	LOXL3	COL11A2	COL2A1	B3GALT6	HSPA9	SLC26A2	EIF2AK3	RNU4ATAC	GNS	COL9A1	FLNB	LTBP3	MATN3	COL11A1	XYLT1	KIF22	KIF7	COL9A2	DPYD	CANT1	PTH1R	TMEM165	GEMIN4	TRPV4	CDKN1C
HP_SPONDYLOMETAPHYSEAL_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPONDYLOMETAPHYSEAL_DYSPLASIA	GPX4	TRPV4	CFAP410	ACP5	TRIP11	COL2A1	PCYT1A	PAM16	FN1
HP_INCREASED_SUSCEPTIBILITY_TO_FRACTURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_SUSCEPTIBILITY_TO_FRACTURES	COL1A1	CCDC141	FGF17	CTSK	CYP27B1	KIT	PRDM5	B3GALT6	LBR	FGF8	FOXE1	ANO5	SPTLC2	CTNND2	EXOC6B	PANK2	GATM	MINPP1	KCNJ6	HABP2	TERT	LTBP1	SEMA3A	FBLN5	GNPTAB	DCC	OCRL	TRIP4	LMOD3	KLHL40	CDKN1B	TCIRG1	ASXL1	TMEM38B	GNAS	PLEKHM1	NHP2	TRIP11	TAPT1	CHEK2	TENT5A	TET2	RECQL4	B4GALT7	TNFRSF11A	NOP10	CREB3L1	PARN	CLCN7	SLC34A1	TINF2	ALPL	TREM2	NFIX	SLC29A3	CDKN2B	RTEL1	COL1A2	CHRND	ZFHX2	SP7	WNT3A	SLC4A1	DUSP6	MYH3	NGLY1	FGFR1	EFEMP2	SQSTM1	KDELR2	CTNNB1	TBCD	STAT3	BRAF	FKBP10	NEB	DKK1	B2M	HNRNPA2B1	USB1	RUNX2	CTC1	PPIB	RETREG1	CASR	COL2A1	ZNF469	KLHL41	CHRNG	KRAS	NDNF	SLC37A4	NPM1	TACR3	MMP14	HBB	ANOS1	SPRY4	YY1AP1	AGA	GLE1	FLRT3	GBA1	TNFRSF11B	ATP7A	SCARB2	CRTAP	KIF1A	MOGS	IDH1	CDKN2C	P4HB	CLCN5	LIFR	CYP2R1	VDR	PROK2	ATL3	TNFSF11	PTH1R	NGF	CHD7	SCN9A	ANTXR2	IER3IP1	PTEN	VCP	WRAP53	PDE8B	ACTA1	SEC24D	RIN2	SRSF2	CCDC134	PRKAR1A	PDE11A	HESX1	DKC1	SMPD1	RRM2B	SERPINF1	HS6ST1	GK	SMS	CHST3	P3H1	IL6ST	FN1	PYCR1	SGMS2	MTAP	HNRNPA1	LRP5	MMP2	SPTLC1	UNC45A	SLC9A3R1	AGXT	SLC7A7	IRX5	MET	TYMS	NOTCH2	BANF1	MBTPS2	ZNF687	PLOD2	CCND1	NDUFAF6	SATB2	SEMA5A	WNK1	CYP27A1	RB1	PRKACA	GORAB	LPIN2	FEZF1	NTRK1	SNX10	TPM3	MESD	PLOD3	IL17RD	TIMM8A	NRAS	LEMD3	TP53	CBL	MPV17	CBS	ATP7B	CDKN1A	RUNX1	IFITM5	MEN1	CHRNA1	ARMC5	SOX10	EHHADH	SLC34A3	B3GAT3	UROS	SOX9	ELP1	COPB2	TYROBP	PROKR2	ASCC1	HRAS	CLTCL1	TRPV6	FZD4	WNT1	IDH2	CA2	WDR11	SC5D	ATL1	TERC
HP_PAINLESS_FRACTURES_DUE_TO_INJURY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAINLESS_FRACTURES_DUE_TO_INJURY	SCN9A	NTRK1	NGF	MPV17	WNK1	KIF1A	RETREG1	ZFHX2
HP_DELAYED_EPIPHYSEAL_OSSIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_EPIPHYSEAL_OSSIFICATION	COMP	SOX9	TPO	IARS2	COL2A1	DDRGK1	CYP27B1	POU1F1	HESX1	ESR1	IYD	TSHB	B3GALT6	LHX4	CLCN5	MIR140	GPX4	TG	TRPV4	KIF7	DUOXA2	TSHR	COL9A3	FGFR2	LHX3	TONSL	PISD	KCNH1	SLC34A3	RNU4ATAC	DUOX2	CYP2R1	PROP1	KIF22	MATN3	SLC5A5	CYP19A1	PTH1R	VDR
HP_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM	HNF1B	SDHB	SPINK1	ALK	CTNNB1	GJB2	SDHD	HS2ST1	CPLANE1	BRCA1	KIT	KLHDC8B	UBA1	STK4	TERT	RNASEH2C	MINPP1	SMARCB1	PTPN11	AR	FCHO1	TP53	THPO	FZD2	OCA2	JAK2	SEC23B	ACTG2	SIX1	CYP26C1	MYD88	RASGRP1	MSH2	STS	GNAS	ADH5	ADA2	DYNC2H1	SRY	KRT1	LZTR1	IDH1	MAX	HACE1	PIK3CA	BCR	DICER1	H19	ARID1B	RNASEH2B	ENG	KRAS	PDCD10	MAGT1	RPS29	TOPORS	HNF1A	BRCA2	LRBA	RPL35A	ASPSCR1	WT1	TRPS1	USP8	MLLT10	PGM3	APC	HABP2	GINS1	FOXP1	PPM1D	BCL10	IL12RB1	FGFR3	CCND1	KIF1B	SMARCAL1	HBB	RNF43	CDC73	MT-TL1	RECQL4	PLCD1	HLA-DRB1	GNA14	NNT	USP48	FLT4	ATRX	EXT2	GNA11	GDF5	TEK	PPP1CB	IGKC	PTCH2	DUT	PCGF2	SDHA	FAH	KRT17	VHL	GABRD	CBL	CLPB	SLC22A18	GJB3	RPL26	NBN	CDKN2A	NR0B1	DDB2	TCOF1	NUP214	EIF2AK4	PKHD1	MYH11	ERCC2	SAMD9	PAX6	SMAD4	PTPN12	ALX3	CDH1	TSC2	TYR	GPC3	RARA	MYO1H	RB1	SIX3	FCN3	TMC8	ESR1	CASP8	SDHC	RFWD3	ASXL1	BMP2	CCDC22	RABL3	MLH1	SASH1	DNAJB11	LEMD3	FGFR2	RHBDF2	DCC	RPGRIP1L	PRKCD	TGFBR2	WRN	VANGL1	PTEN	CD28	CPOX	GPR143	SOX6	COL7A1	SCN10A	SOX11	BRAF	KCNH1	MC2R	BAP1	XPC	BARD1	CYLD	ACD	PHOX2B	VANGL2	FOXO1	NKX2-1	IDH2	NRAS	IKBKG	PRKACB	BMPR1B	NEK1	ACP5	GATA2	ZNRF3	NF1	SLC26A4	DHH	NR5A1	SUFU	GNB1	MEG3	IL6	F13B	CTBP1	ATP2A2	CDK4	INPP5E	DVL3	TCTN3	FGF3	SNAI2	FDPS	STK11	TNFRSF13B	BUB1B	TMEM231	RET	TAL2	UROS	ERCC4	CPLX1	ING1	FOXI1	TPP2	ERBB2	PDGFB	EPCAM	PDX1	AIP	ACVRL1	POT1	GPR35	GDNF	SRP72	MYCN	MYSM1	ABCD1	CEL	ICOS	CDH23	NLRP1	AHCY	MT-RNR1	KAT6B	KRIT1	HRAS	UROD	RAD21	PDGFRL	RASA1	FANCI	SAMD9L	KRT5	PTCH1	CR2	FGFR1	MAPK1	FGF8	REST	FIBP	ERCC3	CACNA1S	DVL1	HMBS	RNASEH2A	LAMB3	FAM20C	MET	WAS	RPS19	RYR1	TSC1	SERPINA1	DHX37	TET2	SKIC2	TWIST1	RAG2	IFNG	PALLD	ALX1	FANCF	COL4A6	GLI1	KRT10	SLC2A2	ELANE	CARS1	GNAQ	NFIX	BIRC3	KRT6B	SMO	AP2S1	SRP54	CYSLTR2	TYMS	DOCK8	ACTB	MAP2K1	RNF113A	NFKB2	SH3GL1	CD27	NR4A3	MMP1	FANCM	TDGF1	MMEL1	CARD14	UBE4B	STAT3	MEFV	FERMT1	SASH3	RPS17	DEF6	DPF2	SAMHD1	CHEK2	PRKN	PPP2R1B	PDE11A	CXCR4	FANCE	IGLL1	NF2	FAM149B1	CTHRC1	IGF2R	CALR	CEBPA	HSPA9	RPA1	MDM4	WIPF1	FANCB	EPHB4	HAX1	CASZ1	KIAA0753	NOTCH1	GPR161	IPO8	CREB1	EXTL3	RPS24	OGG1	TERC	IGF2	PIK3R1	RPS27	SEMA3D	L2HGDH	LMOD1	EXT1	PARN	GCGR	TCIRG1	RNF139	DIS3L2	DPM1	ATP7A	HSPG2	MT-TK	SH3KBP1	DDR2	EDN3	BLK	MUTYH	CHRNG	NOTCH3	NDP	SOCS1	TP63	GJA1	YY1	SRC	PDGFRA	PRDM16	TXNRD2	C2CD3	RAD51C	MPL	IRF1	GJC2	MFN2	RAF1	NPM1	FANCA	ELP1	XRCC4	CC2D2A	TOP2A	POU2AF1	PMS1	DMRT3	BMP6	SPTBN1	COL11A2	DDX41	SKIC3	EDNRB	ALAD	ACAN	WRAP53	PDE8B	ETV6	TAL1	CDKN1C	SRSF2	CYP11B2	OFD1	PRKAR1A	SBDS	MYC	DNMT3A	PALB2	AAGAB	TCF4	CCL2	MSH6	MRE11	STAR	NTHL1	ITK	MMP23B	PPOX	LIN28B	BLM	HLA-DQA1	AKT1	SCN4A	EP300	PCNA	RAD54B	CYP2D6	MC1R	FOXH1	B3GALT6	TLR2	BMPR1A	SEMA4A	G6PC1	MPV17	OCRL	MEN1	FLT3	MSX2	MT-TP	SH2B3	KCNN3	PHB1	GPR101	RPS7	KCNQ1OT1	LMNA	ANTXR1	RSPRY1	BAX	PNP	TREM2	PRLR	CASP10	CTLA4	PKD2	PDGFRB	NUTM1	RSPO1	PHKA2	HSCB	KCNJ10	TJP2	CCBE1	CASR	FAT4	SPEN	SDHAF2	TNFRSF1B	TMC6	SKI	MTOR	GFI1	HPGD	NHP2	FAN1	H4C9	NOP10	NODAL	HFE	TINF2	PAX4	RPL15	IL2RG	RPL11	RTEL1	TIAM1	PAX3	ERCC5	WDPCP	CHIC2	LETM1	DHCR7	MPLKIP	SYK	ERBB3	ABCB4	LUZP1	KDR	VPS16	TNFRSF13C	ARHGAP26	AXIN2	RPS10	SCN11A	POU6F2	GATA1	TRIM37	SLC25A13	MCM4	MST1R	KCNQ1	SEC23A	COL4A5	PERP	TGFBR1	FH	RERE	FAS	POLE	LIG4	TNFRSF10B	IL7	MSH3	SFTPA2	SREBF1	PBRM1	XPA	NEK9	TFE3	GLI2	WNT10A	FLNA	IVNS1ABP	TARS1	SOX2	MAN2C1	F5	FOXC2	HDAC4	DNAJC21	MDM2	CIB1	MTAP	KRT16	STAG3	LRRC8A	ARL6IP6	MAP3K1	GJB6	ARID2	KLF6	DYNC2LI1	DLST	ZFHX3	LAMC2	NAB2	MSL3	USP9X	ERCC6	IFIH1	PIGL	FLCN	RTL1	PLCB4	CDON	MS4A1	IGHG2	TMEM127	STIM1	TOM1	FANCG	RUNX1	KANSL1	SEMA4D	BICC1	TNFSF12	SHOX	PHKB	RAD54L	ATM	GAS1	RPS14	PYGL	EWSR1	GREM1	ALG9	EVC	PRKACA	PAX7	CD79A	ZFTA	F13A1	MTMR14	ASCL1	FUZ	GPC4	ECE1	STAT6	ADAMTS3	ABCA5	EIF3F	RMRP	SETD2	GNPTAB	CDKN1B	APPL1	NSD2	FASLG	TAF15	C1S	DISP1	SLC26A2	RPS28	ATP7B	PTPN3	NFKB1	FANCC	TAF1	FOXE1	BDNF	MITF	OPCML	CREBBP	ABCB11	ANTXR2	TRIP13	PLAG1	ABCC6	RAD51	SQSTM1	PTPRJ	XIAP	DLC1	CTSC	ARID1A	POFUT1	MAD2L2	SLC37A4	MT-TQ	IL12A	ABCC8	BRIP1	SRGAP1	PKD1	CD19	TMEM107	EYA1	CYP2A6	STAC3	SPRED1	GCK	PAK2	PTPRC	SPRTN	ADA	CCM2	POLR1D	SF3B1	INTU	ATP6V1B2	SMARCE1	NEUROD1	FLI1	GATA4	SLC25A11	EPAS1	SOS1	COL2A1	CSF3R	RAG1	TRIM28	LSM11	SLC6A17	RPS15A	BTK	MT-TH	ELMO2	DAXX	EDN1	MSR1	ARSA	MAPRE2	SH2D1A	EFL1	SSX1	TCF3	COL1A1	PHKG2	PLA2G2A	ACVR1	BUB1	SLC12A3	DNASE1L3	MBD4	MGAT2	TYROBP	GCDH	TBXT	STAT1	POLR1C	MALT1	HAVCR2	SLC17A9	POLD1	PHF21A	WNT5A	FGFRL1	NUMA1	INS	SHOC2	POLH	GTF2H5	JAG1	MAP2K2	ZAP70	NRTN	MVD	CRKL	RPL10	EPHB2	CYP11B1	ALX4	USB1	PORCN	IL1B	SHH	PSENEN	DKC1	TUBB	BMPER	PIGG	BRD4	SMARCC2	MSTO1	TTC7A	RPL18	CDKN2C	TMEM67	XRCC2	RPL31	HEATR3	SSX2	SLC45A2	TULP3	TBC1D24	NSUN2	TBX2	XRCC3	GNAI3	LPP	GLI3	PRKCZ	SETBP1	PSAP	SOX4	VAMP7	EVC2	DLK1	KLF11	POR	SMPD1	WASHC5	CTPS1	FOCAD	PUF60	MCC	ATR	NR3C1	AGGF1	CD79B	RPS20	TNFRSF4	SIX6	PMS2	DLEC1	RAD50	MBTPS2	SMARCD2	TMEM216	RELA	MLH3	ADAR	CD81	LAMA3	PRF1	DHCR24	ANAPC1	MAD1L1	CLCN2	AP3D1	UBE2T	ZFPM2	FBXO28	ENPP1	DZIP1L	MNX1	SPIB	ATP2B1	SMARCA4	CD4	TERF2IP	WWOX	IKZF3	HLA-DQB1	IGHM	RNASEL	NQO2	GCM2	BCHE	KIF11	CTC1	GTF2E2	APC2	HMMR	KIF7	PDPN	MVK	PTH1R	GPC6	KARS1	SMARCD1	PDE6D	BUB3	TFAP2A	IKZF1	BLNK	MN1	POGLUT1	CARMIL2	KCNJ11	MDH2	MYLK	MRAP	ZIC2	RB1CC1	SFTPC	MYH8	BCL6	CLCNKB	NDUFAF6	NSD1	KCNE3	EGFR	MXI1	SMAD7	GBA1	GIMAP5	PRCC	NBEAL2	LRP1	TRAF7	MAP3K8	DCLRE1C	ZSWIM6	CAT	LMO1	ABL1	CDKN1A	ARMC5	DNM2	PICALM	RHOH	RNF6	KRT14	CD70	HNF4A	FAM20A	MT-TF	TGIF1	DDX59	IRF2BP2	RPS26	FANCD2	RNU7-1	IL7R	SLCO2A1	ECM1	SMARCAD1	GDF2	CHD7	SRD5A3	CDKN2B	TG	CTRC	NAGS	RPL27	SLX4	TREX1	CD96	LZTS1	SCN9A	TRPV3	RRAS2	RAD51D	TNPO3	CTSA	KCNAB2	SEMA3C	SOX9	MT-ND5	TNFSF15	BIN1	NELFA	DLL1	KDM6B	MT-TS2	RPL5	NOD2	BCL2	ESCO2	MAFA	KLLN	CEP57	USF3	COL18A1	H4C5	KRT6A	GANAB	MGMT	RBM8A	GJB4	TSR2	POLR1B	IL6ST	IRF5	ALG5	MST1	AURKA	ASCC1	MYF6	KDSR	FANCL	COL14A1	AXIN1	RPL35	PIEZO2	IFT140	IL1RN	KEAP1	MUC5B	HOXD13
HP_LYMPHOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LYMPHOMA	DNASE1L3	IGKC	PNP	BCL2	CD28	CASP10	WIPF1	NSUN2	ATM	CTLA4	BLM	RASGRP1	KIT	PTPRC	FAS	DDX41	ADA	POLE	KLHDC8B	BCL10	IRF2BP2	NBN	LIG4	WRAP53	TERT	IL7R	MALT1	RMRP	RECQL4	HAVCR2	SRSF2	FCHO1	TNFRSF1B	PIK3R1	MLH1	MYD88	BCL6	DKC1	TCF4	RAG2	NHP2	IL2RG	TNFRSF13B	TET2	RB1	AAGAB	NOP10	MDM2	PARN	RAG1	CHD7	IKZF3	BIRC3	TINF2	NTHL1	NFKB1	ITK	CDKN2A	RTEL1	ZAP70	TYMS	MAGT1	HLA-DQA1	HLA-DQB1	LRBA	NFKB2	RAD54B	CCND1	CD27	ICOS	SOCS1	PRKCD	STAT3	TP63	CHEK2	DCLRE1C	PGM3	TNFRSF13C	SYK	PMS2	DEF6	COL14A1	XIAP	SH2D1A	KIF11	FOXP1	MS4A1	APC	IGHG2	USB1	CTC1	FASLG	WAS	RUNX1	CD81	RNF43	CD19	TNFSF12	SMARCAL1	NPM1	TP53	MSH6	RAD54L	CR2	PRF1	RHOH	NRAS	HLA-DRB1	TTC7A	XRCC4	PTEN	MYC	ASXL1	KRAS	CD70	TERC
HP_PHEOCHROMOCYTOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHEOCHROMOCYTOMA	VHL	SDHB	DLST	SDHD	NF1	PRKAR1A	TMEM127	TSC2	MDH2	DNMT3A	MAX	CDKN1B	RET	CDKN1A	CCND1	MEN1	SDHC	KIF1B	FH	SLC25A11	EPAS1	IFNG	TSC1	SDHA	CDKN2C	CDKN2B	HRAS	SDHAF2
HP_PARAGANGLIOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARAGANGLIOMA	SDHB	SDHD	NF1	SDHC	DLST	FH	SLC25A11	VHL	EPAS1	CCND1	DAXX	TMEM127	KIF1B	MAX	MDH2	DNMT3A	SDHA	ATRX	SDHAF2	RET
HP_OSTEOSARCOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOSARCOMA	RPS29	RPS20	RPS27	TP53	RPL27	TSR2	RB1	RPL35A	ADA2	RPL35	RPS28	CHEK2	RECQL4	WRN	MDM2	MTAP	SQSTM1	ANAPC1	RPS26	RPL26	RPS19	RPL15	RPS17	RPS7	RPL18	RPS24	CDKN2A	LMNA	RPL11	GATA1	RPL31	HEATR3	RPS10	RPS15A	RPL5
HP_BASAL_CELL_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BASAL_CELL_CARCINOMA	PMS1	MLH1	PTCH2	TGFBR2	ERCC5	PMS2	MC1R	PRKCD	WNT10A	FAS	SMO	CASP10	NRAS	BMPR1A	COL14A1	SEMA4A	MLH3	APC	TMC6	FASLG	OCA2	PIK3CA	LMNA	ERCC3	PTCH1	DDB2	ERCC4	TYR	RASGRP1	MSH2	ERCC2	KRAS	FAN1	SUFU	DICER1	XPC	RECQL4	AAGAB	CYLD	CIB1	POLH	MSH6	ANAPC1	RMRP	NTHL1	HRAS	KEAP1	RASA1	EPCAM	RPS20	FOXE1	TYMS
HP_GASTROINTESTINAL_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROINTESTINAL_CARCINOMA	RPS29	RPS20	MLH1	BRAF	GPR35	RPL27	APC	MST1	RPL35A	MUTYH	AKT1	AURKA	BUB1	DCC	POLE	SRC	FLCN	TLR2	RPS26	RAD54B	NRAS	RPL26	PTPRJ	CCND1	BMPR1A	RPS17	BUB1B	COL14A1	RPS24	DLC1	GATA1	RPS10	CTNNB1	SEMA4D	PDGFRL	RPS27	SMAD4	TGFBR2	TSR2	ADA2	WRN	RPL35	PTPN12	STK11	MCC	POLD1	CHEK2	RPS28	TP53	MLH3	AAGAB	TCF4	MSH2	RPS19	NTHL1	RPL15	MSH6	PIK3CA	RPS7	RPL18	FGFR3	PLA2G2A	PMS2	GREM1	RPL11	EPCAM	RPL31	EP300	BAX	AXIN2	RPS15A	RPL5
HP_COXA_VALGA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COXA_VALGA	IDUA	COL9A3	EXTL3	ERCC6	SLC10A7	MGAT2	DVL1	ATRX	B3GALT6	BCR	AFF3	LMNA	STXBP1	COL9A2	ENPP1	EXT2	GLI3	POP1	ADAMTS2	MEG3	RAB23	ABCC9	CANT1	SLC35A2	GLB1	FUCA1	GNPTAB	COG4	DVL3	LMX1B	FZD2	XYLT1	ATP7A	SLC12A2	RBM8A	DLK1	ARID1B	CSGALNACT1	TGFB1	WNT5A	FLNA	ADAMTSL2	COL1A2	GJB2	CCDC47	ORC1	KCNJ8	EIF2AK3	B4GALT7	ZMPSTE24	TRIP11	HNRNPR	HSPG2	GJB6	NRCAM	GTF2E2	BGN	NGLY1	CRKL	SIL1	KDELR2	COL1A1	RTL1	ARCN1	EED	COG8	EXT1	TGFB3	COG1	EZH2	COL11A1	IFIH1	SHOX	GALNS	COL2A1	INPP5K	OTUD5	PDE4D	HNRNPH1	SLC2A10	COL9A1	MAPK1	NFIX	RPS6KA3	MAN2B1
HP_CLOVERLEAF_SKULL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLOVERLEAF_SKULL	RAB23	MEGF8	FGFR3	FGFR2	EXTL3	FGFR1	POR	WDR35
HP_SMALL_FORAMEN_MAGNUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_FORAMEN_MAGNUM	INPPL1	ALDH18A1	FGFR3	CHD4	IARS2	ELN	RSPRY1	FBLN5	FLNB	LBR	HNRNPH1
HP_SKULL_ASYMMETRY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKULL_ASYMMETRY	MASP1	TWIST1	RAD21	RSPRY1	FTO	FGFR2
HP_ABNORMAL_SELLA_TURCICA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SELLA_TURCICA_MORPHOLOGY	IDUA	TP53	TRIM37	PTCH2	TBC1D2B	MTX2	GUSB	CDH11	BRAF	OBSL1	ATRX	TSHB	SUFU	USP8	NR3C1	RMRP	LHX4	GNPTAB	CDH23	STUB1	NKX2-1	ABCC9	NAA10	PLOD3	BMP4	SOST	ZSWIM6	USP48	GLB1	DYM	VPS33A	MAF	ADAMTSL2	PCNT	NOTCH2	MAN2B1	PTCH1	FLNA	SLC17A5
HP_J_SHAPED_SELLA_TURCICA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_J_SHAPED_SELLA_TURCICA	IDUA	GNPTAB	TRIM37	PLOD3	MTX2	GUSB	OBSL1	VPS33A	MAF	ADAMTSL2	RMRP	SLC17A5
HP_DEFORMED_SELLA_TURCICA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEFORMED_SELLA_TURCICA	IDUA	GNPTAB	TRIM37	PTCH2	PLOD3	MTX2	GUSB	DYM	OBSL1	VPS33A	SUFU	MAF	ADAMTSL2	RMRP	NOTCH2	PTCH1	FLNA	SLC17A5
HP_ABNORMAL_CALVARIA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CALVARIA_MORPHOLOGY	MN1	ARSB	CYP27B1	NLGN4X	PHF21A	APC2	TMCO1	IL11RA	CTCF	IFT43	CPLANE1	PDHA1	ALX1	ZBTB20	GPC4	KYNU	LTBP4	GNE	ZNF699	ZIC1	ALX4	RNASEH2C	PIGY	BMP4	RNU4ATAC	ASXL3	ADAMTS3	FRAS1	SETD2	SALL4	EHMT1	GNPTAB	CAMK2A	PRKAR1A	FZD2	CDT1	TCIRG1	DPYSL5	MEGF8	PEX14	SPOP	TCF12	NSD2	ERF	SFRP4	NAGLU	PEX10	SEC24D	GP1BB	ADH5	CHD1	HCFC1	TBXAS1	SLC39A8	TAPT1	TTC8	TAF8	CHSY1	MBTPS2	ZEB2	TGFBR2	RPS6KA3	B4GALT7	TNFRSF11A	DOCK6	CCDC8	TMEM237	OBSL1	PCNT	CAMKMT	SKI	NFKB1	UNC80	CSPP1	HNRNPR	NFIX	DICER1	TMEM67	SLC3A1	PALB2	DSE	COL1A2	RNASEH2B	HK1	KRAS	PTH1R	CREBBP	NRCAM	POLR3A	CDC6	TOPORS	SP7	ALMS1	BRCA2	H3-3B	JAG1	LMNB1	DVL1	HSD17B4	KIAA0753	NOTCH1	TRIP13	CHN1	PIGN	LRP4	RUSC2	DPH1	FGFR3	MEN1	TWIST1	TMEM218	ERGIC1	GDF1	KIF11	STAG2	SCUBE3	PPP2R5D	TCF20	GNAS	NKX2-5	BPNT2	IL6ST	LONP1	C12orf57	CC2D2A	KIF7	DYM	FLII	PIK3CA	NCAPG2	FGFR1	HNRNPA2B1	LBR	RUNX2	KMT2A	MKS1	BAP1	MAD2L2	EBF3	SOX5	PQBP1	ACP5	KIF1A	MCOLN1	RAI1	GJA5	SGSH	SUFU	RECQL4	COL11A2	GRIN1	LARS1	PIK3R1	BRIP1	MOCS1	SUPT16H	CDH2	COLEC11	CTBP1	USB1	FGF9	DHCR24	SPEN	CD19	MAFB	P4HB	SETD1B	FBN1	SATB2	PTHLH	MAN2B1	PPP1CB	CRPPA	FTO	DPM2	GATA6	RAD21	PCGF2	LETM1	MYCN	DLL3	HSPG2	TNFSF11	SNORD115-1	PPM1B	NGLY1	MAF	FOXF1	ATP7A	CUL4B	ERMARD	COL2A1	PAK2	SPRTN	GABRD	STXBP1	PTDSS1	EDA2R	NBAS	SLC25A24	GALNT2	HDAC4	CHAMP1	POLR1D	HNRNPK	DDB2	TCOF1	FUCA1	INTU	FREM1	ERCC2	UBE3B	KIDINS220	SOST	CBL	EFTUD2	NOTCH3	ACTB	ZNF423	FLNA	GRB10	GK	WNT5A	RBPJ	CDH11	TTC5	RB1	FLT4	MTHFR	SGMS2	ADAMTSL1	ANTXR1	TBCE	LSM11	MTOR	PRMT7	COL5A1	WDR35	CTU2	CTSK	VAC14	ASXL1	CCDC22	DVL3	IFT122	GTF2E2	PEX5	FGFR2	NRAS	SEC24C	VCP	RPS23	PEX6	NOTCH2	RPGRIP1L	MOGS	FLI1	PEX16	SON	SHANK3	PREPL	NDE1	CKAP2L	GLB1	SMC1A	SNX10	TCTN2	MCTP2	SOX6	TMEM53	ROBO3	KDR	NXN	ANKH	GJA8	PIGO	HOXD13	KLF1	PAM16	BRAF	HYMAI	IGF2	KCNH1	MASP1	PEX1	MAGEL2	TRIP11	HNRNPH1	TRIO	FLCN	SLC35D1	SYNE1	HBB	CCNQ	SNRPN	PRKCD	TRAPPC9	RAF1	ATIC	ERCC5	BUB1	AMER1	FANCC	CNOT3	BRD4	UBE3A	PPM1D	HBA1	KATNIP	MGAT2	RAB39B	BGN	MKRN3	HMGA2	KCNJ5	RNPC3	POLR1C	RAB18	MYMK	NANS	MEG3	RYR1	IFT52	WAC	INPP5E	MBD5	SATB1	TBX1	ARMC9	TCTN3	ORC6	INPPL1	TGFB1	THOC2	FGFRL1	LRP5	TONSL	IPO8	SMOC1	CCDC47	SLC17A5	EDA	PLEKHM1	BUB1B	OSTM1	AHDC1	IFT80	GLIS3	CHD4	CPLX1	ADK	DDX3X	MSX2	SNX14	BMS1	GTF2H5	GRIA3	OTUD6B	WNT7A	MAP2K2	SIX2	SNAI2	DLL4	FH	PAICS	RAB23	TRAIP	IFT81	SEC23A	PPP1R21	PEX19	IDS	FAM20C	PEX7	MYSM1	PTCH2	ICOS	SLC6A9	RERE	PIGV	PTPN11	SMAD4	ARCN1	RAC1	WDR19	COL11A1	MED27	KDM1A	PPIB	KAT6B	PEX13	TGFB3	OPHN1	WDR73	HDAC8	PIK3R2	IFIH1	GPC6	FANCI	PIGG	SMG8	ERCC6	TUBGCP6	DEAF1	HERC2	UGP2	RAB3GAP2	CRTAP	PEX11B	GMNN	CR2	BICRA	MOCS2	CHD5	HGSNAT	TNFRSF13B	ATP6V1B2	TMEM231	XRCC2	CENPE	TIMM50	GLI3	GBA1	ALPL	ROR2	GJA1	SLC26A2	MYH3	TBC1D24	ADSL	ERCC3	NSUN2	IKBKG	TBX2	SH2B1	GATA4	PLAGL1	TBX6	PTRH2	NOVA2	RNASEH2A	BMPR1A	EPB41	KPTN	HIRA	PPP2CA	RPS19	KIT	OFD1	TFAP2B	EDAR	PRKCZ	SETBP1	CACNA1C	PEX12	TOGARAM1	HDAC6	SETD5	ALDH6A1	PPP2R1A	B9D2	NUP85	DLK1	H3-3A	POR	STAC3	WASHC5	DNMT3A	ARVCF	FOCAD	PTEN	ALG9	RPL10	ORC1	ARHGEF9	FANCF	PAFAH1B1	CARS1	HNRNPA1	NEK1	PGAP2	SMO	CEP104	NUP188	PEX2	KMT2B	RELN	SHOX	DPM1	NPHP1	OGDHL	AHI1	CDKN1C	CHD3	SH3PXD2B	PPP1R12A	RNF113A	CWC27	KATNB1	NFKB2	TBL1XR1	SIX6	CHST14	TMEM138	LIFR	FANCM	NSD1	UBE4B	FERMT1	TTC26	SCYL2	MESD	PEX26	PIGW	PYCR1	PLK4	LEMD3	PIGA	ANKRD17	CASK	EPB41L1	DLX5	TMEM216	NPR2	NAA10	SAMHD1	ADAR	GPC3	EXOC8	NLRP3	CD81	TBX15	COL1A1	ATAD3A	DDR2	USP9X	DDX59	NTNG2	ORC4	IDUA	JMJD1C	RIPPLY2	IQSEC2	TECPR2	ATP6V0A2	SLC34A3	B3GAT3	FANCE	MAP2K1	FANCG	EFNB1	FAM149B1	AP1S2	HRAS	TNFSF12	SMS	NONO	FMR1	SPTB	D2HGDH	WBP11	EOGT	PCLO	COX5A	CHRNG	FANCB	AASS	FBXL4	CUL7	HES7	UBE2T	HNRNPU	UGDH	AIP	CASZ1	PPP3CA	CNOT1	DYNC2I1	EXTL3	PLOD1	MTM1	MVK	PIGL	IFT140	CTNS	PDHX	SPECC1L	DHCR7	PDHB	ATP2B1	RSPRY1	CBY1	TBC1D7	TET3	LIG4	MMP2	MED12	RREB1	NALCN	CREB3L1	KAT6A	GPX4	KCNJ1	COX4I2	TAF1	KDM5B	CD96	LAMA5	SLC29A3	FREM2	ADAMTS10	UBA2	CHUK	CEP290	PLEC	ASPM	ZDHHC9	DYNC2H1	MTX2	KMT2C	CYP26B1	TXNDC15	PAK1	HSPA9	AP1G1	YY1	AGO2	HYLS1	PTCH1	CTNNB1	PRDM16	TGFB2	KNSTRN	STAT3	SRD5A3	C2CD3	AGA	MAN1B1	KIAA0586	RAD51C	XPC	SKIC3	NEU1	CA2	PDPN	CEP41	DLX3	LRPPRC	FANCA	MMP14	SMARCD1	MED13L	SETD1A	FRMPD4	GATAD2B	PDE4D	POU1F1	TNFRSF11B	SLC2A10	FIG4	GATA5	TUBB	XRCC4	CEP120	MESP2	RFWD3	ACTG1	ZNHIT3	DPF2	MID1	ZNF148	CYP2R1	SC5D	PDE6D	ZIC2	SOX9	PRKAR1B	BUB3	KDM4B	EBP	CSGALNACT1	SPTBN1	TFAP2A	EXT2	KMT2E	NAA20	PWRN1	PRUNE1	RTTN	GNB2	CDC45	ACAN	CYFIP2	ERCC8	ATR	PWAR1	ZMYND11	TUBGCP4	POGZ	PNPLA6	KRT5	ALG12	BRCA1	TBC1D20	SLC12A6	DMP1	CDK10	ZFPM2	ITGB4	DONSON	ARHGAP31	SCARF2	P3H1	LTBP1	CLCN7	NFIA	ADARB1	PI4KA	B3GLCT	ATRX	FLNB	PIGT	CDK13	MECP2	MMP23B	B3GALT6	TCTN1	COMT	ZNF142	PHEX	RMRP	AFF4	ANKRD11	PHF6	AKT1	EP300	ATRIP	SMAD3	USP7	CHRNA7	OCA2	HUWE1	ERCC4	MAP3K7	ZSWIM6	COL25A1	SET	COG4	HBA2	RBBP8	LFNG	TLK2	OCRL	GYPC	EZH2	DPYS	AUTS2	CNTNAP1	FKBP10	POLA1	GPR101	CILK1	ACOX1	COL9A2	TBX4	KCNQ1OT1	MPDU1	KRT14	VDR	POLE	TGFBR1	CEP152	EIF5A	ADAT3	TP53RK	ITCH	LMNB2	BLM	CLCN3	MPDZ	PEX3	IRF2BP2	CCBE1	RNU7-1	PLCH1	RNU12	FAT4	SMG9	PIBF1	ALDH18A1	ARID1B	ENPP1	NKX2-6	SIK3	PSMC1	THUMPD1	SLC39A13	H4C9	GNS	AKT3	EXOC6B	SMARCA2	CEP57	TRPS1	SMAD6	FBN2	MAPK1	PIGQ	CITED2	PSAT1	DMXL2	MEIS2	NFKBIA	TMEM70	TRIP12	GRIA1	FBXO11	MPLKIP	ZC4H2	TBCD	LUZP1	PURA	SCO2	UBR1	PRPS1	PIK3CD	FANCD2	DDX6	GATA1	TRIM37	ARL13B	NEPRO	SPTA1	BLTP1	TUBB3	RNF216	CNTN1	TAB2	EMC10	FHL1	PLA2G6	DYNC2I2	KCNAB2	SLC25A12	RALGAPA1	PRKD1	TREX1	RNF135	NELFA	KDM6B	KCNQ1	CENPJ	TDP2	NPAP1	ESCO2	ZNF292	CDC42BPB	SLC39A14	NIPBL	DYNC1H1	EDARADD	YWHAE	COL18A1	DENND5A	MITF	PCDHGC4	COLEC10	PLAG1	H4C5	SNORD116-1	SLC35A2	LMX1B	UPF3B	RAC3	XPA	RBM8A	MADD	TARS1	SOX2	CHST3	TOR1A	METTL23	GDF11	SMC3	ALG14	PRIM1	PDGFRB	SYT1	ASH1L	KIF15	POLR1B	BRWD3	INTS1	IRX5	SNAP29	ARX	RAB3GAP1	PKDCC	ARL3	GRIP1	TANC2	KCNJ2	SLX4	VANGL2	KANSL1	TNFRSF13C	POLR2A	FANCL	MSL3	DHX37	PGAP3	CRIPT	RTL1	SCNM1	MS4A1	HPGD	KCNK9	SLC35A1	SIN3A	HERC1	OTUD5	COX4I1	ZMPSTE24	DIS3L2	APC	ADNP	FKTN	HEPHL1	RAD51	B9D1	UFD1	ARID2
HP_THICKENED_CALVARIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICKENED_CALVARIA	POLR3A	FLNA	SFRP4	NOTCH3	CDH11	LRP5	COL11A1	IFIH1	DVL1	SLC17A5	NONO	MAN2B1	AGA	ERCC6	PLEKHM1	PDE4D	SGMS2	TNFRSF11B	PTDSS1	AP1S2	GNAS	ERCC8	GLB1	TMEM53	AMER1	SNX14	GNPTAB	SMS	DYM	RPS6KA3	TMEM67	SMAD4	CA2	HPGD	RUNX2	PTH1R	PHF6
HP_PRENATAL_MATERNAL_ABNORMALITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRENATAL_MATERNAL_ABNORMALITY	ZMYND10	F13A1	CYP11B1	CYP11A1	F5	DNAJB13	ABCC6	KCNJ11	TGIF1	MSX1	SPTBN1	ABCC8	FOXE3	LRRC56	NR3C2	LBR	ZFP57	GJA1	GAS8	MYLK	EP300	SUFU	DNAAF4	SYCP3	OFD1	ADGRG6	RSPH3	NR1H4	F13B	IRF6	DNAL1	SLC25A20	SLC35A2	STK36	TGFB2	CFH	ODAD4	FGFR1	CFAP300	ZIC2	PLAGL1	RNF13	ACTA2	CYP11B2	HESX1	GLI2	POR	CLCNKB	SOX2	LMNA	MAT2A	DISP1	CCDC65	DNAAF3	SPINK1	HELLPAR	FBN1	SIX3	MTHFR	ASH1L	DNAAF1	NODAL	ODAD3	FOXJ1	CCDC40	NME8	HYMAI	FDXR	HNF1A	CPT1A	PROKR2	SMAD4	CYP19A1	ODAD2	FCGR3B	HBA2	TP63	DNAI2	DNAH1	DNAH5	ABCB11	VANGL2	DNAH9	TGFB3	SERPINC1	CTRC	HTR1A	VANGL1	SPAG1	FUZ	ANXA5	TTC12	TSHR	LOX	DNAAF11	OTX2	HADHA	TDGF1	RPGR	DUOX2	CORIN	DNAI1	FOXH1	DNAH11	HBA1	TGFBR1	CFAP221	RSPH4A	NAA10	NEK10	MME	HYDIN	SPEF2	CFAP298	DHPS	MFAP5	ARNT2	PPARG	F2	RSPH1	CDON	C11orf80	SOX3	MYH11	CCDC103	HEY2	MCIDAS	CCNO	RSPH9	PRKG1	NKX2-5	CD46	COL2A1	CFI	SMAD2	ABCB4	SHH	GAS2L2	DNAAF2	NOS3	ATP8B1	F12	DNAAF6	GAS1	NECTIN1	DNAAF5	PTCH1	DRC1	HADHB	DLL1	ELN	FGF8	CCDC39	ODAD1	TGFBR2	ENPP1	SMAD3	SLC12A3	STOX1
HP_ABNORMALITY_OF_FRONTAL_SINUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FRONTAL_SINUS	ALX3	FLNA	TRIM37	SFRP4	ATRX	NOTCH2	MPDU1	COL11A1	CTSK	SIX2	ALX1	KCNJ2	AGA	RUNX2	DNAI1
HP_ABSENT_FRONTAL_SINUSES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_FRONTAL_SINUSES	TRIM37	CTSK	FLNA	RUNX2	NOTCH2	ATRX	DNAI1	COL11A1
HP_LARGE_SELLA_TURCICA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_SELLA_TURCICA	CDH23	TP53	ABCC9	TBC1D2B	SOST	ZSWIM6	USP48	GLB1	BRAF	GNPTAB	ATRX	TSHB	USP8	NR3C1	PCNT
HP_PLATYBASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PLATYBASIA	HIRA	TBX1	SH2B1	SIK3	SEC24C	NOTCH3	COL1A1	GP1BB	NOTCH2	ARVCF	JMJD1C	COL1A2	COMT	UFD1	FLNB	RREB1	LBR
HP_ABNORMALITY_OF_THE_SKULL_BASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_SKULL_BASE	PIGN	SEMA3E	ZBTB20	AFF3	RPGRIP1	LBR	TXNDC15	MYOD1	HYLS1	FLNA	B9D2	PLPBP	ZIC1	RAB18	ALDH7A1	TCTN2	MEG3	SMARCB1	CSF1R	DYNC2I1	WASHC5	B4GAT1	PLCH1	FBXO28	SMARCE1	SETD2	TMEM107	CRPPA	PLG	FAR1	FKRP	MBD5	WDR35	FLVCR2	DPYSL5	SMG9	DPH1	ASXL1	ATP6V1A	EDEM3	VPS51	RNF113A	ARID1B	SIK3	GNAS	FOXC1	SMARCA4	PRX	GJB2	CPT2	TAF8	ZEB2	BUB1B	TMEM231	PMM2	POMK	DKK1	EBP	IFT80	POMT1	GDF6	TMEM138	DAG1	TCTN1	ACADVL	MUSK	SIX2	NPHP3	TUBA1A	KRAS	CDC42	DYNC2H1	NDUFC2	CREBBP	NOTCH3	MAPKAPK5	TRIP13	CEP290	GTPBP2	NUP88	DHCR7	POMT2	BRF1	NEK8	ATP6V0A2	MKS1	C2CD3	ALX4	TMEM237	KIF7	KIAA0586	TMEM216	RAC1	KATNB1	RFT1	SNORD118	LARGE1	DPH5	APC2	CSPP1	ARID1A	PPFIBP1	PACS2	ANKH	COG1	FGFR2	IGF2	POLR3A	OPHN1	POMGNT1	WDR73	ALG3	BLTP1	ARMC9	COL4A1	DYNC2I2	ACP5	B9D1	ATP6V1B2	WDR81	POMGNT2	SMARCC2	EVC2	MRE11	PHGDH	CDH2	FGFR1	TUBB	CEP120	KCNQ1	EVC	SMARCD1	MID1	IL6ST	GLI3	RXYLT1	PPP1CB	FTO	NRAS	TBC1D24	SH2B1	BUB3	SETBP1	PTH1R	CEP57	B4GALT1	ATP6V1E1	PTDSS1	SOX3	DENND5A	CHD7	TIMMDC1	OFD1	TCTN3	TNFRSF11A	SLC35A2	VRK1	CDKN1C	POGZ	SOX4	B3GALNT2	DLK1	TMEM67	NSD1	COL1A1	AP1S2	GPC3	ERCC5	PITX1	CCDC22	CTU2	FLNB	SLC5A6	NOTCH2	MTM1	GJB6	BANF1	FKTN	CPLANE1	ARID2	ABAT	MYF5	SH3PXD2B	DOK7	GPC4	ALDH18A1	COL1A2	MAN2B1	BCOR	POLR2A	B3GALT6	ABCC9	MAP3K7	USP9X	ZSWIM6	HRAS	TMEM53	RTL1	DPF2	SLC18A3	PMPCA	SOX11	TBX15	PIGU	EXOSC8	FUZ	ESCO2	MSX2	MAB21L1	PUF60	PIEZO2	RAPSN	TGFB1	CC2D2A	KCNQ1OT1	AMER1	VSX1	BUB1	CNOT3	RPGRIP1L	EP300
HP_SCLEROSIS_OF_SKULL_BASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCLEROSIS_OF_SKULL_BASE	DLK1	ANKH	MEG3	MAP3K7	SIK3	NOTCH3	SETBP1	TNFRSF11A	TMEM53	AMER1	RTL1	ACP5	LBR	PTDSS1	FLNA	TGFB1
HP_ABNORMAL_PARIETAL_BONE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PARIETAL_BONE_MORPHOLOGY	CREBBP	PPM1D	PTCH2	TWIST1	POLR3A	EP300	FGFR3	PHF21A	MSX2	KRAS	ALX4	FGFR2	EXT2	SUFU	MPDU1	FIG4	PTCH1	PIGW	PIGY	RPS19	PTPN11	RNU12	PGAP2	PGAP3	PIGV	VAC14	PIGO	RUNX2	PIGL
HP_PARIETAL_FORAMINA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARIETAL_FORAMINA	CREBBP	PPM1D	ALX4	TWIST1	RPS19	EP300	PHF21A	MSX2	RNU12	FGFR2	EXT2
HP_ABNORMAL_FORAMEN_MAGNUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FORAMEN_MAGNUM_MORPHOLOGY	CREBBP	INPPL1	ALDH18A1	FGFR3	CHD4	EP300	IARS2	RAB23	ELN	GPSM2	RSPRY1	FLNA	RUNX2	FBLN5	FLNB	LBR	HNRNPH1
HP_LARGE_FORAMEN_MAGNUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_FORAMEN_MAGNUM	CREBBP	EP300	FLNA	RAB23	RUNX2	GPSM2
HP_ABNORMALITY_OF_SKULL_OSSIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SKULL_OSSIFICATION	ALPL	SEC23A	NOTCH2	TXNDC15	EXT2	IFT43	THPO	COL1A2	LBR	TBCE	FIG4	FGFR2	LMNA	RBL2	VCP	CSF1R	FAM111A	INTU	HHAT	HDAC6	ALG9	SLC25A24	PPIB	COL2A1	COL1A1	NAGLU	PHF21A	P3H1	TAPT1	BMPER	RUNX2	TRIP11	ZMPSTE24	CREB3L1	SGSH	ALX4	CRTAP	MPL	SLC25A19	LAMA5	HGSNAT	WNT7A	ANTXR1	VAC14	OSTM1
HP_HIGH_NARROW_PALATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_NARROW_PALATE	HNRNPK	FGFR1	PCLO	ERCC3	DVL1	IFT122	WNT7A	SPTBN1	FOXE3	HECW2	ERMARD	COL3A1	FBN1	BCR	NOTCH2NLC	NIPBL	FIG4	BMPR1A	MYLK	CPT2	IPO8	PCDHGC4	ASXL3	NAA10	ORC1	H4C5	PTPN11	ABCC6	TGFB2	RECQL4	PLOD1	DVL3	FZD2	CDT1	SMG9	SPRED2	MEGF8	MARS1	ACTA2	ORC6	ARL6	POR	TARS1	NOTCH3	SMARCA2	TCTN3	CDK10	WASHC5	WNT5A	MAT2A	GRB10	GIPC1	SCARF2	GPC3	AFF4	SPRED1	LRP4	CARS1	PTEN	PEX1	ANTXR1	TAF1	ACTA1	TBX1	SLC6A17	VPS13B	GTF2H5	DPM1	ORC4	SLC25A24	SMAD4	VAC14	MED12L	CCDC28B	MAP2K1	CCDC22	CREBBP	CDC6	TGFB3	CHD3	GNE	ERCC2	PEX5	EP300	RNF113A	GPC4	LOX	COL12A1	NSD1	CRKL	INTU	MPLKIP	TPM3	TGFBR1	PIGT	BCOR	COL11A1	CDC45	KCNJ6	NDUFAF6	MFAP5	RUNX2	GTF2E2	MYH11	MYMX	HEY2	COPB1	KCNK9	DDX59	PRKG1	BRAF	RET	KLHL41	MUSK	SMAD2	ATN1	CNTN1	SIN3A	MAP3K7	NONO	FOXP2	TAOK1	PIEZO2	SLC25A12	MED25	DIS3L2	FGFR3	PTDSS1	MCM3AP	APC	BBS1	NEB	GMNN	MAPK1	SPEN	SMS	ELN	TBCK	AMER1	TGFBR2	ARID2	SKI	ATP7A	SMAD3	UBE3B
HP_DOWNTURNED_CORNERS_OF_MOUTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DOWNTURNED_CORNERS_OF_MOUTH	BRD4	PCLO	WDR4	HS6ST2	EIF2S3	SNRPN	ZBTB20	AFF3	MKRN3	RAB18	PIGY	PDX1	CTBP1	PIGV	WAC	IGF2	DVL3	MBD5	FZD2	NSD2	MAGEL2	HDAC8	PHF21A	CDK5	WNT5A	FGFRL1	ATP1A3	CCDC47	AFF4	SHMT2	RTL1	KAT6A	CPLX1	SMC1A	HOXB1	ZNF407	PIGQ	MED12L	LMBR1	CDC42	POLR3A	EEF1A2	DVL1	NARS2	KIAA0753	TRIP12	CHRNG	MASP1	LETM1	FBXO11	PPP1R15B	ZC4H2	GMPPA	DLK1	PACS1	TCF20	COLEC11	EHMT1	KDM1A	HNRNPK	DPH5	UBE2A	MYMX	HACE1	PACS2	CDH11	BRPF1	FOXP1	EBF3	PIGG	SMARCD1	RNU4ATAC	KCNJ11	ABCC8	ATP6V1B2	HERC2	ZMYM2	PIK3R1	NELFA	NDN	DPF2	ROR2	OCA2	SC5D	STAC3	SLC1A3	NPAP1	RAD21	TBC1D24	MEG3	PRKAR1B	KDM4B	SNORD115-1	CAMTA1	EXT2	KCNH1	STAT3	KIF7	NOVA2	NIPBL	PWRN1	TWIST2	GPC4	KAT8	GNB2	TELO2	COLEC10	H4C5	HMGA2	SNORD116-1	PWAR1	CACNA1C	MAFB	SETD5	POGZ	H3-3A	TASP1	GRB10	GK	SMC3	HDAC4	ASH1L	DCHS1	KIF15	WDR37	PIGT	INTS1	PGAP2	CDK13	NEXMIF	TRMT10A	GCK	ATP1A2	MEF2C	POLA1	SON	NOTCH2	CACNA1A	H4C11	PIGW	LEMD3	PIGA	PLOD3	KCNMA1	MSL3	TBL1XR1	DHX37	PGAP3	MED13L	SCNM1	NXN	FAT4	PIGO	RLIM	PIGU	INS	SRCAP	PRR12	NTNG2	ZPR1	TRAPPC9	ALX4	ZSWIM6	SIM1	CSNK2B	PIGL	CNOT3
HP_ADRENAL_OVERACTIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADRENAL_OVERACTIVITY	NR3C1	HTR1A	CYP11B1	MEN1	CACNA1D	NR3C2	ARMC5	KCNJ10	ATRX	KCNJ2	PRKACA	ZNRF3	SCNN1G	PRKAR1A	CACNA1H	CLCNKB	USP8	SCNN1A	CYP11B2	BSND	KCNJ5	TERT	PDE11A	KCNJ11	CYP11A1	PDE8B	GNAS	CDKN2A	SLC12A1	CDKN1B	CDKN1A	CLCNKA	TP53	RET	OCRL	BRAF	INSR	CLCN2	AIRE	CDH23	KCNJ16	KCNJ1	SCNN1B	USP48	CDKN2C	CDKN2B	CTNNB1	SLC26A3	POR	SLC12A3
HP_RECURRENT_BACTERIAL_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_BACTERIAL_INFECTIONS	DNASE1L3	PNP	C5	TBX20	DNAJB13	IL12RB1	GJB2	SCNN1G	CITED2	TNFRSF13C	SERPINA1	RPGR	EPHB4	HAX1	STK4	CD40	DOCK8	DNAAF4	RSPH3	RFXAP	STK36	SLC9A3	ODAD4	POMP	ITGB2	CFAP300	PIK3R1	CD79A	RAG1	GFI1	BTK	CLCA4	CCDC65	RAG2	TNFRSF13B	MBTPS2	G6PC3	STAT1	IL17RA	IKZF3	TCIRG1	UROS	MYD88	FOXJ1	RFXANK	NME8	CEACAM6	AP3B1	ODAD2	ZAP70	DNAH1	DNAH5	SH3KBP1	SPAG1	RAB27A	TLL1	TBCE	DNAH11	CFAP221	RSPH4A	GCLC	NEK10	KNSTRN	STAT3	PGM3	HYDIN	PIK3CD	SCNN1A	NKX2-5	NCF2	SPEF2	CFAP298	SCNN1B	RSPH1	ACTC1	DCTN4	RBCK1	CIITA	CTSC	CD8A	IRAK4	MCIDAS	RSPH9	CD19	HFE	OTULIN	CD81	GAS2L2	EDNRA	SLC37A4	DNAAF2	ICOS	C8B	CYBA	MBL2	SLC11A1	CYBB	CR2	DNAAF5	CFD	CD79B	EPG5	MIF	GATA4	C7	ELANE	IGKC	WAS	ZMYND10	IFNGR1	IKBKG	GATA6	AICDA	LRRC56	IKZF1	ADAM17	UROD	BLNK	NCF1	ANTXR2	LAMB3	CLPB	ADA	RFX5	LYST	GAS8	CARMIL2	OFD1	DNAL1	CFI	IL10RA	CEBPE	KCNN4	SRP54	SBDS	SAMD9	MS4A1	C6	ISG15	IL2RG	DNAAF3	DCLRE1C	SLC26A9	FCN3	GATA1	DNAAF1	UNG	ODAD3	CCDC40	EGFR	SLC39A7	SLC6A14	SLC7A7	IGHM	LCP2	DNAI2	HMOX1	HBB	GJB6	DNAH9	IFNGR2	GSTM3	ATP6AP1	TTC12	DNAAF11	UBE2A	MYH6	LAMC2	MAN2B1	MALT1	C3	DNAI1	NTRK1	DNAJC21	CFB	TYK2	DEF6	JAGN1	PSEN1	SMARCD2	EFL1	FERMT3	IGHG2	STIM1	GATA2	CCDC103	CFTR	PSENEN	CD40LG	CFH	CCNO	TGFB1	IL2RA	SLC35A1	LAMA3	DNAAF6	CXCR4	IGLL1	NHEJ1	CEACAM3	STX1A	DRC1	CCDC39	ODAD1
HP_DECREASED_CIRCULATING_IGA_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_IGA_LEVEL	IGKC	PIK3CG	IL2RG	HLA-DQB1	BTK	ATP6AP1	ITCH	BLM	AICDA	TCN2	LRBA	ATM	ICOS	MOGS	PTPRC	BLNK	PLCG2	RNF168	ADA	SASH3	CD40	NFKB2	DCLRE1C	RAG1	SYK	PIGT	BACH2	IPO8	STAT2	PIK3CD	KNSTRN	CASP8	TNFRSF13C	IGHG2	CD19	CR2	CARD11	TCF3	PIK3R1	MTOR	CD40LG	IVNS1ABP	REL	IL2RA	TNFRSF13B	RAG2	IL6ST	PRIM1	IRF2BP2	PMM2	IGLL1	UNG	CD247	DNMT3B	CD79B	CD3D	TYMS	SPI1	TNFRSF11A	CD3E	NFE2L2	LIG1	CTLA4	CAVIN1	CSNK2A1	TOM1	ZNF341	JAK3	HLA-DQA1
HP_IMMUNODEFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMMUNODEFICIENCY	DCLRE1B	IL2RG	EXTL3	PRPS1	CD28	WIPF1	IL12RB1	LAMTOR2	TFRC	SPATA5	SDHD	NFKB1	CTLA4	TNFRSF13C	STAT1	IRF8	ZNF699	STK4	CD40	LMNB2	TCF3	IRF2BP2	RAG1	DOCK2	TERT	IL7R	RAB27A	XRCC4	RMRP	ALG1	CTBP1	AP3D1	HYOU1	TNFRSF1B	RAC2	TBX1	SEC23B	TP53	PIK3R1	FOXN1	PI4KA	DCLRE1C	SIK3	GP1BB	FGFRL1	CHD1	NHP2	SKIC2	CD3E	CCDC47	TNFRSF13B	MBTPS2	NOP10	RREB1	PARN	CHD7	BCL11B	RAG2	RTEL1	CARD11	TINF2	MYD88	DNMT3B	UNC119	NFE2L2	MAGT1	CDC42	TICAM1	IGHM	XIAP	MEIS2	SLC46A1	CREBBP	LRBA	USP8	CRKL	LAT	ORAI1	NFKB2	ICOS	RNF168	KNSTRN	PGM3	PIK3CD	LYST	NCF2	ACTB	TBCE	USB1	CTC1	DKC1	RBCK1	IRF7	WAS	IRAK4	CD19	OTULIN	PIK3CA	SMARCAL1	NPM1	CYBA	ACP5	LCK	CR2	CDH23	MMUT	FCGR3A	PRKDC	TTC7A	USP48	MAPK1	MYC	PNP	EPG5	CD3D	MAN2B1	ATM	CD247	IFNGR1	IKBKG	LETM1	CPLX1	ATRX	AICDA	CUL4B	SDHB	IKZF1	BLNK	BCR	NCF1	IL21R	ANTXR2	ZBTB24	ADA	POLE	USF3	SKIC3	HIRA	TLR3	BTK	LIG4	WRAP53	AGL	AK2	SRP54	NSD2	JAK3	IL12B	SBDS	CDCA7	MS4A1	CYBB	IVNS1ABP	HBB	TBK1	BCL10	ISG15	ARVCF	CTPS1	IKBKB	BRAF	IL2RB	NR3C1	TRAF3	UNG	CD79B	HELLS	MGAT2	TNFRSF4	LRRC8A	COMT	CARD9	TYMS	LCP2	CUBN	IFNGR2	FRAS1	SEC24C	MALT1	SHANK3	PTEN	CORO1A	DNAJC21	TYK2	SH2D1A	MCM10	AMN	EFL1	ADA2	AKT1	STIM1	CD81	GATA2	TOM1	CD40LG	IL2RA	TNFSF12	JMJD1C	CD3G	IGLL1	ACD	POGZ	NHEJ1	KLLN	PRKCD	MTHFD1	UNC93B1	UFD1	SDHC	BUB1B	SP110	CD79A	EP300	TERC
HP_RECURRENT_ABSCESS_FORMATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_ABSCESS_FORMATION	FCN3	SYK	CARMIL2	PSENEN	PI4KA	BTK	CD247	CEBPE	SP110	CD3D	TTC7A	PSEN1	GJB2	AP3B1	UBE2A	CD3E	LCP2	GJB6	CTSC
HP_RECURRENT_ASPERGILLUS_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_ASPERGILLUS_INFECTIONS	TOM1	GSTM3	CYBB	CFTR	HFE	TGFB1	CLCA4	EDNRA	CYBA	STAT1	SLC11A1	NCF1	SERPINA1	SLC26A9	GCLC	CEACAM3	CEACAM6	STX1A	NCF2	SLC9A3	SLC6A14	KCNN4	MIF	DCTN4	HMOX1
HP_SYSTEMIC_LUPUS_ERYTHEMATOSUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYSTEMIC_LUPUS_ERYTHEMATOSUS	FCGR2B	IGKC	C2	RASGRP1	CTLA4	SMPD1	ACP5	SEMA6B	DNASE1L3	STAT4	IRAK1	TLR7	C4A	SOCS1	PRKCD	C8A	C1QA	TREX1	FAS	C3	DDX41	CFTR	TPP2	CASP10	MASP2	FCGR2A	PNP	C1S	C1QB	DNASE1	SPP1	PTPN22	IGHG2	FASLG	SERPING1	C1QC	PEPD
HP_CHRONIC_MUCOCUTANEOUS_CANDIDIASIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_MUCOCUTANEOUS_CANDIDIASIS	IL2RG	SREBF1	TFRC	WDR1	IL17F	IL17RC	STAT1	ADA	RFX5	MVK	DCLRE1C	CARMIL2	RFXAP	DOCK2	KNSTRN	STAT3	PGM3	PIK3CD	RFXANK	CLEC7A	IL7R	ITGB2	AIRE	CIITA	TOM1	CD40LG	IL2RA	IKBKB	CD3G	IL6ST	IL17RA	CD247	SP110	CD3D	TLR8	AP3B1	EPG5	CD3E	CARD9	ZAP70	ZNF341	JAK3
HP_FOLLICULAR_HYPERPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOLLICULAR_HYPERPLASIA	SYK	NRAS	CASP10	PRKCD	FAS	CD19	FASLG	TNFRSF13C	ICOS	STING1	TNFRSF13B	CTNNBL1	KRAS	CR2	TET2
HP_CHRONIC_NONINFECTIOUS_LYMPHADENOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_NONINFECTIOUS_LYMPHADENOPATHY	CASP10	SDHD	MINPP1	FAS	HABP2	RASGRP1	ABCA1	FASLG	PRKCD	ATRX	FOXE1	DAXX
HP_DECREASED_LYMPHOCYTE_APOPTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_LYMPHOCYTE_APOPTOSIS	NRAS	FASLG	CASP10	FAS	KRAS	CASP8
HP_LYMPH_NODE_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LYMPH_NODE_HYPOPLASIA	PNP	IL2RG	BTK	DCLRE1C	EPHB4
HP_ABNORMAL_LYMPH_NODE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LYMPH_NODE_MORPHOLOGY	FOXP3	DNASE1L3	PNP	UNC13D	CD28	IRF2BP2	ATM	HMOX1	IL12RB1	RASGRP1	YARS1	BAP1	KIT	GATA2	CTLA4	FIP1L1	BRCA1	IL10	EPHB4	IFNGR1	FOXE1	CD40	PRF1	MINPP1	HABP2	TLR4	CYBC1	CCBE1	ADAMTS3	IL7R	RAB27A	MALT1	RMRP	MVK	FAT4	POMP	FCHO1	TP53	TNFRSF1B	TSC2	IFIH1	ASXL1	JAK2	IL6	STAT4	STAT5B	DCLRE1C	H19	RAG1	NCF1	RAC2	RAG2	HLA-DRB1	TNFRSF13B	TET2	TNFRSF1A	CYBA	CHD7	PSMB9	STXBP2	IRF4	NFKB1	CYBB	TPP2	IL2RG	PRKAR1A	ZAP70	NLRP3	ERAP1	MAGT1	STX11	WWOX	LRBA	CCND1	SOCS1	STING1	ANKRD55	LAT	PSMB8	ICOS	SYK	DIS3L2	PTPN2	CDKN2A	NLRP12	NCF2	XIAP	TNFRSF13C	GINS1	FOXP1	SPP1	RBCK1	FASLG	POU6F2	RABL3	STAT1	IL2RB	CD19	ABCA1	TGFBR2	LACC1	TRIM28	ACP5	CTNNBL1	TRIP13	RARA	RNU4ATAC	CR2	MCM4	IL2RA	BRCA2	BCOR	PSMG2	XRCC4	MPL	ATRX	IL12A-AS1	EIF2AK4	ASAH1	REST	STAT2	PML	NOD2	PIK3CD	PIK3CG	BCL2	CASP10	FAS	AICDA	TNFSF11	PALB2	PTPRC	WT1	NABP1	LYST	ZBTB16	ADA	HLA-B	PRKCD	LIG4	SLC29A3	CASP8	KRAS	TSC1	C4A	PTPN22	SRSF2	JAK3	IL12A	IL23R	BCL6	IRF8	MYC	ISG15	MEFV	GPC3	NPM1	PALLD	STAT3	PSTPIP1	ELANE	CLCN7	UNG	BIRC3	IL6ST	SP110	ITK	TRAC	TLR8	CARD9	TERT	BTK	NCKAP1L	CALR	BTNL2	NFKB2	CD27	SMAD4	IRAK1	WDR1	RNF6	CCR1	RNF168	SNX10	DLEC1	DAXX	PSMB4	DEF6	OTULIN	LCAT	MYD88	SH2D1A	SH3BP2	ZNFX1	CBL	MIF	ADA2	FERMT3	MS4A1	KLRC4	ARPC1B	STIM1	CD81	SMPD1	RIPK1	RUNX1	SDHD	CD40LG	BCL10	TNFSF12	TCIRG1	CXCR4	UBAC2	APOE	NUMA1	NRAS	P4HA2	TBL1XR1	EWSR1	HLA-DPB1	NCF4	CD70	CD247
HP_HYPOPLASTIC_FRONTAL_SINUSES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_FRONTAL_SINUSES	ALX3	FLNA	TRIM37	SFRP4	COL11A1	AGA	RUNX2
HP_RECURRENT_KLEBSIELLA_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_KLEBSIELLA_INFECTIONS	CYBA	MBL2	CYBB	NCF1	IL12RB1	NCF2
HP_RECURRENT_ENTEROVIRAL_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_ENTEROVIRAL_INFECTIONS	BTK	IGHM	RAG2	SP110	RAG1
HP_BILATERAL_CLEFT_LIP_AND_PALATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_CLEFT_LIP_AND_PALATE	MED12	SPOP	GLI2	YAP1	CDH1	NECTIN1	SIX3	PTCH1	CHUK	CTNND1
HP_ORAL_LEUKOPLAKIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORAL_LEUKOPLAKIA	DCLRE1B	KRT6B	KRT16	FERMT1	ACD	KRT6A	RHBDF2	DKC1	KRT4	GJB2	TERT	NPM1	NHP2	WRAP53	MEFV	NOP10	TINF2	PARN	KRT17	KRT6C	RTEL1	CTC1	TYMS	TERC	USB1	RPA1
HP_RICKETS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RICKETS	SLC4A1	HLA-DQB1	HSD3B7	NDUFAF6	ABCC6	CYP27B1	FAH	POLRMT	FGF23	NAB2	ENPP1	STAT6	CLCN5	GATM	ADAMTS2	PHEX	RNU4ATAC	ATP8B1	NRAS	EHHADH	HNF4A	OCRL	SLC34A1	CTNS	FARSB	DMP1	RRM2B	ADAMTSL2	KRAS	AKR1D1	SLC34A3	CYP2R1	SLC2A2	ATP6V0A4	HRAS	ALPL	BAAT	VDR	TJP2	ATP7A	HLA-DQA1
HP_OSTEOMALACIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOMALACIA	VDR	OCRL	ENPP1	NDUFAF6	ABCC6	DMP1	CYP27B1	GNAS	SLC34A1	ADAMTSL2	SLC4A1	EHHADH	GATM	ANTXR2	FGF23	CYP2R1	ATP7B	SYK	CLCN5	ADAMTS2	RNU4ATAC	SLC34A3	SLC2A2	ALPL	AP2S1	PHEX	ATP7A
HP_KYPHOSCOLIOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KYPHOSCOLIOSIS	SPG11	PNKP	EXTL3	CBS	ERCC6	MAP3K20	MGAT2	SPART	ARSB	NEMF	BMP1	CFL2	POMT1	GLS	B3GALT6	NF1	DSTYK	EXOC6B	FKTN	MEGF8	RAB18	POP1	MEG3	PTPN11	EGR2	RBM28	ATAD1	COL13A1	GNPTAB	COL2A1	ELN	UBA1	TRPV4	SYNE1	TONSL	SLC26A2	SLC39A13	ATP6V1E1	MMP2	MECP2	PAPSS2	HMGB3	EBP	RPS6KA3	SLC5A7	GZF1	NDRG1	PMM2	SNX14	FBN2	LHX3	DSE	FLNA	PLOD1	TELO2	POLR3A	SBF2	RAB23	CRPPA	MPZ	ERCC2	KY	VAMP1	FKBP14	COL12A1	CLIC2	PIEZO2	MYH3	PEX7	AIFM1	PPP1R15B	PMP22	BCOR	ATP6V0A2	FARS2	MYL2	ATG7	AIMP1	TUBB4A	TPM2	MAPT	HSPG2	FKRP	CHST3	PTCH1	JPH1	TGFB3	PRX	COG1	NEPRO	CDH11	TUBB3	FBN1	NFIX	KRAS	ACP5	TRAPPC2	SUFU	ATP6V1A	MLXIPL	RECQL4	MTTP	DNA2	CLP1	HACD1	NKX3-2	CTDP1	HGSNAT	MYO9A	TMEM165	H1-4	NSDHL	ALDH18A1	SOX9	PTCH2	SLC10A7	LAMA2	IKBKG	ATRX	CCN6	TMEM147	GDAP1	SLC16A2	SRCAP	NDUFS3	SLC18A3	NAA10	TTI2	WDR45B	AEBP1	SETBP1	B4GALT7	DLK1	STAC3	SLC25A1	LMNA	DNMT3A	CHAT	SMS	TOR1A	TCTN3	HERC1	ACTB	NUP107	AKT1	LRP5	KIF22	SNAP25	SELENON	TRMT10A	NOTCH2	ERCC1	MAP2K1	RYR1	SH3PXD2B	PPP1R12A	FUT8	SLC52A2	TPM3	GORAB	DVL1	MVK	SON	AGRN	MESD	SURF1	NRAS	HTRA1	RTL1	MESP2	ITGA7	DLL3	CRLF1	MRPS34	BRAF	ACTA1	RAB3GAP1	AIMP2	NONO	KCNA1	COL1A2	SYT2	ZMPSTE24	CHST14	FKBP10	JAG1	HRAS	SLC1A2	RSPRY1	ARID2
HP_SPARSE_BONE_TRABECULAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPARSE_BONE_TRABECULAE	CLCN5	VDR	SLC34A3	CYP27B1	CYP2R1
HP_THIN_BONY_CORTEX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIN_BONY_CORTEX	CCDC134	CLCN5	SFRP4	FARSB	GLB1	AKT1	CYP27B1	TNFRSF11A	TMEM53	SMS	MMP2	PTH1R	PRKG2	VDR	TENT5A	SLC34A3	ADAMTS10	XYLT2	FBN1	CYP2R1
HP_OSTEOMYELITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOMYELITIS	FOXP3	IGHM	IFNGR1	ATL3	IL12RB1	C2orf69	TCIRG1	SPTBN1	NGF	BLNK	STAT3	SCNN1G	NCF1	ANO5	LPIN2	SCNN1A	SPTLC2	HLA-B	PGM3	NTRK1	SYK	PIK3R1	TCF3	DNAJC21	BTK	EN1	HBB	NCF2	SLCO2A1	EFL1	SRP54	MPV17	ITGB2	SBDS	FLVCR1	CLCN7	CYBB	SPTLC1	STAT1	REL	DNMT1	HPGD	ATL1	PLEKHM1	IL1RN	CYBA	IGLL1	CCT5	RAB7A	ATP7A	MTAP	SCNN1B	TNFSF11	CD79B	CLTCL1	IKBKG	LRRC8A	RETREG1	CD79A	ZNF341
HP_PATHOLOGIC_FRACTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATHOLOGIC_FRACTURE	CCND1	ATL3	VCP	SLC4A1	PTH1R	LIFR	RB1	B3GALT6	IER3IP1	SPTLC2	EFEMP2	PLOD3	LTBP1	B2M	FBLN5	GNPTAB	OCRL	TP53	CBL	HNRNPA2B1	ATP7B	TCIRG1	ASXL1	RUNX1	SMPD1	SLC34A1	GK	CHEK2	AGA	GBA1	UROS	RECQL4	TYROBP	MTAP	SCARB2	TET2	HNRNPA1	LRP5	SLC34A3	CTC1	SRSF2	ALPL	TNFRSF11A	TREM2	SPTLC1	GNAS	AGXT	SLC7A7	MET	SC5D	ATL1	NOTCH2	BANF1
HP_RECURRENT_FRACTURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_FRACTURES	VDR	CCDC141	PROK2	FGF17	TCIRG1	TNFSF11	CHD7	LBR	FGF8	FOXE1	ANTXR2	PTEN	CTNND2	CLCN5	COL1A2	VCP	MINPP1	SLC29A3	HABP2	WRAP53	TERT	TNFRSF11A	SEC24D	SEMA3A	DCC	CCDC134	TMEM38B	HESX1	DKC1	RRM2B	COL1A1	GNAS	PLEKHM1	HS6ST1	NHP2	SMS	CHST3	TRIP11	P3H1	TAPT1	TENT5A	B4GALT7	PYCR1	NOP10	CREB3L1	SGMS2	PARN	MTAP	CLCN7	NFIX	LRP5	TINF2	ALPL	UNC45A	RTEL1	IRX5	TYMS	MBTPS2	ZNF687	TNFRSF11B	SP7	SEMA5A	WNT3A	PRDM5	NOTCH2	P4HB	DUSP6	GORAB	STAT3	MYH3	FEZF1	SNX10	FGFR1	SQSTM1	KDELR2	B3GALT6	IL17RD	TBCD	NRAS	FKBP10	DKK1	LEMD3	CBS	USB1	CTC1	PPIB	SLC7A7	OCRL	CASR	IFITM5	SOX10	CYP27B1	KRAS	NDNF	NPM1	TACR3	ANOS1	SPRY4	RUNX2	SLC34A3	B3GAT3	GLE1	SOX9	FLRT3	ELP1	COPB2	ATP7A	PROKR2	PLOD2	CRTAP	HRAS	CLTCL1	TRPV6	ANO5	MOGS	FZD4	IDH1	WNT1	YY1AP1	IDH2	CA2	WDR11	LIFR	CYP2R1	TERC
HP_OSTEOARTHRITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOARTHRITIS	COL9A3	COL1A1	COL2A1	HLA-B	CCN6	COL5A2	COL3A1	COL11A2	UFSP2	ANKH	COL9A2	MIR140	MMP13	ACAN	HPGD	CANT1	TRPV4	TNFRSF11B	STAT4	PTPN22	SLC26A2	SMAD2	SLC40A1	IL2RB	AIP	F9	GBA1	IL2RA	ATP7B	GNAS	ZMPSTE24	CLCN7	COL9A1	KIF22	COMP	MATN3	PHEX	ZNF687	SMAD3	STT3A	ANKRD55	PRG4	PTPN2	DDRGK1	HGD	COL11A1	FGFR3	TRPS1	TGFB3	ASPN	CD247	EMILIN1	FBN1	GHR	TRAPPC2	MEFV	GDF5	SCARB2	GPR101	AEBP1	FRZB	COL5A1	F8	LMNA
HP_GENERALIZED_JOINT_LAXITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_JOINT_LAXITY	GNRH1	HS6ST1	SATB2	CHST14	COL5A2	ATP6V1E1	C1R	PROK2	CHD7	DUSP6	IPO8	ATP6V0A2	AP4B1	MCTP2	LONP1	PLOD1	SERPINH1	FGF8	WDR11	COL2A1	FGFR1	KISS1R	SPRY4	ATP6V1A	COMP	AP4M1	AP4E1	TACR3	FGF17	TAC3	TONSL	NSMF	PUF60	MED12	AP4S1	COL1A1	GNRHR	FGFR3	KISS1	KIF22	AEBP1	MSTO1	COL5A1	PROKR2	PHIP	DSE
HP_MULTIPLE_EXOSTOSES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_EXOSTOSES	TRPS1	PTPN11	ALX4	SHOX	EXT1	MSX2	EXT2
HP_ABNORMAL_CARTILAGE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CARTILAGE_MORPHOLOGY	TGIF1	MGP	STEEP1	ABCC6	COL2A1	NSD2	ZBTB20	HS2ST1	FGFR2	DHX30	LBR	ANKH	PTPN11	PTCH1	TWIST1	UBA1	HLA-B	EXT2	GNAI3	EDN1	PEX5	POLR1C	IDH1	POLR1D	TCOF1	TNFRSF11B	KRAS	PLCB4	HGD	SLC26A2	EXT1	ZNF462	DDR2	TCTN3	FGFR1	PUF60	PTH1R	TRAPPC2	POLR1B	F8	FLNB	FGFR3	PEX2	IDH2	ENPP1	SIX3
HP_TRACHEAL_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRACHEAL_STENOSIS	KCNJ10	DHCR7	FLNB	GRIP1	MGP	SLC26A2	ARSL	KIF7	PCNT	ZEB2	HYLS1	WNT3	LTBP3	IDUA	EBP	SLC26A4	FRAS1	EXTL3	HOXD13	DDRGK1	SMAD4	FREM2	ADAMTSL2	RSPO2	RMRP	FOXI1	MAP3K7
HP_ABNORMAL_TRACHEAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TRACHEAL_MORPHOLOGY	UBA2	GRIP1	MGP	SEMA3E	FANCB	VPS37D	WNT7A	ARSL	UBE2T	LBR	PDGFRB	LTBP4	ZNF699	HYLS1	POLR1C	FANCD2	TERT	FRAS1	EXTL3	EHMT1	METTL27	PAX3	DHCR7	MYRF	SLC12A2	GREB1L	NCF1	SLC26A2	NHP2	GTF2IRD1	AFF4	ZEB2	NOP10	PARN	CYBA	AHDC1	EBP	TINF2	FANCL	CYBB	FGFR1	FGF20	PROKR2	FREM2	RTEL1	PALB2	FOXI1	HK1	FAT4	PAICS	KCNJ10	BCL7B	USP9X	LMBRD1	MLXIPL	BRCA2	KMT2C	IDS	FBN2	CYBC1	GLMN	IDUA	SCUBE3	FKBP6	ARNT2	RAD51C	SMAD4	RAC1	TRIM2	HRAS	RFC2	USB1	CTC1	TBL2	SOX3	ERF	RPL5	FGFR2	MAD2L2	FLNB	GTF2I	CHD7	NPM1	FANCA	KIF7	FANCI	BMPER	PRRX1	RALGAPA1	LTBP3	CLIP2	BRIP1	FOXF1	TRRAP	RFWD3	XRCC2	MID1	ADAMTSL2	STX1A	DNAJC30	SOX9	MYCN	PCNT	RET	WRAP53	POLR1D	SLC26A4	TCOF1	GMNN	SALL1	HESX1	BRCA1	SOX2	DKC1	NCF2	FANCF	HDAC4	WNT3	DCHS1	POLR1B	BUD23	KIF22	WNT9B	TYMS	BAZ1B	RMRP	ELN	RAB3GAP2	POLA1	COL2A1	NOTCH3	EMC1	OTX2	FANCM	SLX4	KANSL1	EIF4H	WDR26	B3GALT6	GTF2IRD2	LIMK1	ERCC4	DDRGK1	ZIC3	TMEM270	DDR2	ITGA8	ORC4	FANCE	TONSL	ORC6	FANCG	SNRPB	HOXD13	AMER1	GFRA1	RAD51	FANCC	WBP11	NCF4	RSPO2	MAP3K7	TERC
HP_TRACHEOMALACIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRACHEOMALACIA	RAB3GAP2	SOX9	FLNB	USP9X	COL2A1	KMT2C	EMC1	IDS	LTBP4	DCHS1	ZNF699	KANSL1	WDR26	B3GALT6	SCUBE3	EHMT1	GMNN	RAC1	FAT4	PAX3	TRIM2	HRAS	ERF	RPL5	FGFR2	MYRF	ORC4	BMPER	AFF4	TONSL	ORC6	PRRX1	HDAC4	RALGAPA1	AHDC1	KIF22	SLC26A2	AMER1	TRRAP	SNRPB	MID1	HK1
HP_BRONCHOMALACIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRONCHOMALACIA	ERF	SOX9	FLNB	MYRF	RAC1	IDS	ORC4	MYH11	IL6ST	ORC6	LTBP4	ZNF699	KAT6A	SCUBE3	SLC26A2	EHMT1	KRT14	FGFR2	FGFR1	GMNN	POR	HRAS	KRT5
HP_UPPER_AIRWAY_OBSTRUCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_AIRWAY_OBSTRUCTION	SOX9	ZMPSTE24	XPNPEP2	AHDC1	GNE	FGFR3	KCNJ6	COL11A1	FGFR2	SH3BP2	ZSWIM6	DDRGK1	BTNL2	IDS	F12	POR	LMNA	HLA-DRB1
HP_RECURRENT_LOWER_RESPIRATORY_TRACT_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_LOWER_RESPIRATORY_TRACT_INFECTIONS	PNP	IL2RG	ERCC6	AASS	RASGRP1	POLA1	CTCF	NFKB1	SCNN1G	TNFRSF13C	LTBP4	DOCK8	TGFB1	PURA	DOCK2	KCNJ6	IDH1	PIK3CD	CYBC1	DIP2B	LTBP1	EXTL3	FBLN5	GNPTAB	PLOD1	DRC1	FCHO1	HYOU1	LRRC56	IFIH1	DZIP1L	SATB1	C4B	PIK3R1	GAS8	GLI3	TONSL	COL11A2	RAC2	RAG2	TNFRSF13B	G6PC3	SMARCA2	CD247	MASP2	UNC119	TPP2	NME5	AP3B1	VPS33A	DNAH11	CD3E	NFE2L2	FCGR2A	ZAP70	ODAD1	COL6A2	NDUFC2	ALMS1	LMNB1	FOXJ1	LRBA	IDS	CFAP410	MYSM1	LAMA2	LAT	EFEMP2	NFKB2	RAG1	TBCD	STAT3	SCNN1A	NCF2	HYDIN	SCNN1B	RFXAP	RAC1	CIITA	GEMIN4	IGBP1	TRIM37	CD19	ICOS	MDFIC	CYBA	STX3	RNU4ATAC	CR2	SIAH1	CD79B	PRKDC	CD3D	USB1	LEP	ALB	B3GALT6	CAVIN1	JAK3	PEPD	IGKC	COL6A3	KPTN	SOX9	NUP214	AICDA	SREBF1	COL13A1	BLNK	NCF1	IL21R	ADA	COLQ	CARMIL2	BTK	PRKCD	NBN	WAS	FMO3	CCDC40	RFXANK	WDR19	SETBP1	ODAD2	CLPB	POLE	ALG12	EGFR	CYBB	CFTR	RFX5	SLC35C1	IL6ST	CCDC39	ZBTB7A	STK36	FCN3	UNG	TBX1	MGAT2	TK2	PYROXD1	TNFRSF11A	IGHM	CTLA4	ZNF341	CD27	LAMB2	WDR1	ATM	GORAB	RNF168	C3	PGM3	SASH3	DCLRE1C	PKP1	TTC26	NKX2-1	USP9X	SMARCD2	ZNFX1	RNF125	IGHG2	ARPC1B	WDR35	CARD10	TCF3	DDR2	CD40LG	GALNS	SFTPC	FBXW7	CXCR4	ARHGEF1	ORC6	MED25	IGLL1	PKHD1	MTHFD1	VARS1	COL5A1	LIG1	IL7R	COL6A1	P4HTM
HP_TRACHEOBRONCHOMALACIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRACHEOBRONCHOMALACIA	SOX9	GMNN	RAC1	SCUBE3	SLC26A2	EHMT1	IDS
HP_TACHYPNEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TACHYPNEA	CEP290	RHD	IGHMBP2	PLXND1	NEK1	HLCS	KATNIP	ABCD4	ARSL	CDKL5	CPLANE1	CSF2RA	SFTPB	TMEM216	KIAA0753	COA6	CC2D2A	KIAA0586	RHAG	TOGARAM1	PIBF1	B9D2	ARMC9	TCTN3	SLC25A15	RHCE	FARSB	INPP5E	CBY1	ZNF423	MKS1	BOLA3	HMGCL	UQCRC2	TMEM237	NHLRC2	CSPP1	CEP104	ACADVL	ABCA3	PCCB	TCTN1	ACTA2	SLC34A2	RPGRIP1L	LRPPRC	AHI1	OXCT1	ARL3	TOPORS	OFD1	CSF2RB	GABBR2	TMEM138	STING1	CACNA1S	NTNG1	TMEM67	HYLS1	TMEM218	TLL1	FBP1	TCTN2	NKX2-6	PAM16	KIF7	ARL13B	CEP41	PCCA	BTD	SFTPC	CASR	COPA	RYR1	SMC1A	SUFU	FAM149B1	ACAT1	NKX2-1	CA5A	LYRM7	CEP120	TMEM231	MECP2	B9D1	MT-CYB	PDE6D
HP_NEONATAL_BREATHING_DYSREGULATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_BREATHING_DYSREGULATION	TMEM216	CEP290	AHI1	INPP5E	RPGRIP1L
HP_HYPOVENTILATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOVENTILATION	COL6A3	HNRNPK	LBX1	NPAP1	MYPN	PHOX2B	MYH7	NDUFS6	SNORD115-1	NEB	ASCL1	TTN	LAMB2	SLC52A3	MOGS	MKRN3	LAMA2	PWRN1	MAGEL2	COLQ	PURA	ACTA1	TPM2	COL6A2	SNORD116-1	DCTN1	PWAR1	LMOD3	MECP2	RET	NDUFAF2	DZIP1L	MYO1H	FKRP	SELENON	DMD	COL12A1	NDUFS2	SH3TC2	NDUFB8	SURF1	SLC5A7	SCO2	NDUFAF3	HERC2	CFL2	PKHD1	COL6A1	KLHL41	HOXA1	TPM3	P4HTM
HP_REDUCED_VITAL_CAPACITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_VITAL_CAPACITY	KBTBD13	KLHL41	SBF2	CHRNE	MAP3K20	VCP	DOK7	NEB	CHRNB1	CHRNA1	MYOT	MYPN	SCN4A	LRP4	ACTN2	SELENON	TTN	TPM3	ACTA1	CHRND	TPM2	PYROXD1	AK9	RAPSN	COL13A1	AGRN	CRPPA	MYH7	MUSK
HP_ABNORMAL_PATTERN_OF_RESPIRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PATTERN_OF_RESPIRATION	FOXP3	CEP290	DEPDC5	TFG	TERT	ARSB	ZIC2	NDUFA9	NEMF	BAP1	ASCL1	OPA1	CDKL5	PLCH1	FOXE3	CPLANE1	PDHA1	LRP12	NEFH	OTX2	SFTPB	TGIF1	GNE	ETFA	PURA	MT-ND1	TET2	KCNJ6	RNU4ATAC	NODAL	NDUFB11	SLC25A20	TPM2	NDUFS7	TGFB2	RET	PRPH	AP3D1	KLHL7	CDT1	NDUFAF2	SIX3	ATP1A2	VPS51	STN1	NDUFA13	SH3TC2	TRAK1	MAT2A	SLC39A8	IL1RN	SCN2A	COX15	ZIC3	LONP1	MECP2	KCNQ3	TMEM237	DLL1	SPOP	SLC25A1	CFL2	NDUFA2	SKI	UNC80	LARP7	CSPP1	MYH11	VPS33A	POLG	COQ2	COL6A2	RPGRIP1L	MUSK	CREBBP	CDC6	TOPORS	REEP1	BMPR2	CSF2RB	ERBB4	RPS6KA3	GBA1	TRIP13	JPH2	PRRT2	EOMES	KAT6B	TINF2	GALC	TGFBR1	TMEM218	CABP4	ERGIC1	TSEN54	FBP1	GNAS	GATA6	DCTN1	SCNN1B	SOD1	CC2D2A	MGME1	MCCC1	ACTC1	MT-ND6	RUNX2	DPH5	NECTIN1	HEY2	MT-ATP6	MKS1	DMD	COL12A1	PYGM	ATN1	HLCS	TP73	FGF8	SLC35A1	WAC	CDON	SMC1A	SUFU	SCN4A	LTBP3	GLI2	COL4A5	MMUT	PON3	MPC1	BICD2	SFTPA1	TMEM107	NDN	GATA4	TGFBR2	ABCA3	GNA11	MYPN	SATB2	SLC1A3	DPM2	IGHMBP2	PCGF2	FGFR1	NUP214	DHX16	SLC25A4	TNFSF11	SNORD115-1	SLC52A3	NGLY1	ABCC9	SRPX2	CSF2RA	MAPT	PFN1	IFIH1	IL12B	CHAMP1	MLX	PIGT	RANBP2	EIF2AK4	SYT1	MUC5B	MYO1H	RNF13	SELENON	TCF4	RHCE	FARSB	TARDBP	EFTUD2	TNNT2	FGFR3	ZNF423	ATP11A	GRB10	SLC19A3	FLNC	STAT3	SURF1	CISD2	PIBF1	NDUFS8	SQSTM1	MT-TE	PON1	MRPL3	VCL	CNTNAP1	FGFR2	BTNL2	CCNF	MOGS	SMPD1	ETFDH	FOXH1	ABCG8	SLC2A1	EDN1	NDE1	MMAB	CRH	FGF13	CHRND	SHH	TCTN2	IRF6	DSP	PAM16	MAGEL2	LRRC32	POMT1	PRR12	SLC22A5	KIF5A	CASR	RYR1	LIAS	SYT2	NUMA1	FLCN	MCM3AP	PTF1A	PKHD1	HBB	NKX2-1	COL6A1	PARN	DISP1	SIM1	LYRM7	CITED2	BUB1	NDUFA8	P4HTM	SLC12A3	FXR1	DNASE1L3	PLXND1	NEK1	KATNIP	HACD1	STIL	TERC	SNRPN	COL3A1	SCNN1G	TRIP11	MKRN3	MEGF10	UNC13A	SIK1	IFT52	SSR4	INPP5E	MT-ND5	DPH1	AGRN	ADAM22	ARMC9	ACTA2	AIFM1	TCTN3	ADAMTS13	ORC6	SLC18A3	NDUFS4	GLA	FAM13A	HCCS	CCDC47	EDA	CPT2	BUB1B	GABRG2	PI4KA	AHDC1	DNA2	IFNG	SLC5A7	NAGS	GLE1	PMM2	PRKAG2	ACADVL	PRKAR1A	ZFPM2	MYH7	IFT81	PPP1R21	ECHS1	IDS	HLA-B	KIF20A	FOXRED1	SLC6A9	RERE	MT-TK	TRPV6	BRAF	NKX2-5	NKX2-6	ARCN1	SPP1	MED27	ERF	PRRX1	DNAJB6	SMAD2	BRAT1	BMPER	LYRM4	RARA	CHRNA2	HERC2	GMNN	GSN	TMEM67	TMEM231	ENG	ASAH1	NDUFA11	OCA2	HLA-DRB1	CHMP2B	CIZ1	KRT6B	MYL3	HNRNPK	TBC1D24	STT3B	NDUFS2	NEB	PLAA	GAA	NAXE	ATP1A3	LIPT1	LAMB3	NABP1	DMPK	FAM20C	COLQ	GNAI3	PRMT7	RHAG	TTN	SETBP1	TSC1	CACNA1C	TOGARAM1	LDLR	SERPINA1	CHRNB1	B9D2	FKRP	CYB5A	BCHE	PUF60	NPM1	ORC1	UBQLN2	LMNA	COL4A6	NPPA	TDGF1	NFIX	MYL2	SNAP25	KLHL41	CEP104	JRK	RELN	MYBPC3	BANF1	NPHP1	GNPTAB	AHI1	GRIK2	WFS1	KATNB1	LAMB2	TMEM138	LIFR	PIGA	LGI4	GPR101	RAI1	CACNA1A	GAS1	SCYL2	MT-TW	MT-TN	CASK	TMEM216	COL2A1	ALAS2	DPAGT1	MT-ND3	PEX13	CFTR	CHRNE	USP9X	DNAAF3	DSG2	GPHN	LAMA3	TCIRG1	TECPR2	COPA	PTCH1	FAM149B1	ACAT1	C9orf72	HNRNPA1	SDHA	HOXA1	TBL1XR1	PCSK9	D2HGDH	SEPSECS	ACADSB	TSEN2	IRF2BP2	WIPF1	CTSK	NACC1	SH3BP2	ABCD4	ARSL	FIP1L1	LRP4	KIAA0753	TBK1	IPO8	ATXN2	FUS	IDH1	ACTA1	FBXO28	KIAA0586	ACADS	KCNQ2	MTM1	TSC2	DZIP1L	ASXL1	UBA1	SLC25A15	RRM2B	COQ7	ARL3	STAT5B	CBY1	PSAT1	SCN5A	HMGCL	NDUFB8	UQCRC2	SCO1	IDUA	FBN1	NALCN	KAT6A	BMP2	PNPLA2	PHOX2B	DPM1	ORC4	HSPG2	PCCB	NDUFA12	OXCT1	GRIN2A	LOX	TP63	DST	GABRB3	EPHB4	AGO2	HYLS1	PON2	CHAT	CTNNB1	FARS2	PSAP	CHCHD10	SCNN1A	IKZF1	TUBB4A	HDAC4	HRAS	DPP9	WAS	KIF7	NDUFA10	VCP	ETFB	CEP41	COA8	LRPPRC	PCCA	ACY1	MARS1	SLC2A10	SCO2	ATP6V1B2	JAK2	BCOR	FOXF1	NDUFS3	ZC4H2	TAF15	ENPP1	SRP54	MT-CYB	TNNI3	NDUFA4	PDE6D	PML	TRPM4	COL6A3	SOX9	PRKAR1B	MYL1	ATRX	BUB3	MYO9A	STAT4	CCN2	PWRN1	CACNA1H	PKP2	ISCU	COA6	GNB2	KCNJ11	FIG4	CAV1	WDR45B	GRIN1	PWAR1	CLPB	POGZ	NDUFV1	ADCY6	SFTPC	EXOC2	CLCNKB	SBDS	KCNT1	DDB1	GYG1	CEP120	TSPYL1	GABBR2	APOB	CLCN7	IRF5	NDUFAF3	TSEN34	TOE1	MT-TV	ATP5F1A	CDK13	MGAT2	TK2	TCTN1	CYB5R3	SCN8A	AFF4	PET100	XPNPEP2	EP300	ABCG5	IRAK1	HSPD1	NTNG1	USP7	SNX10	B3GALT6	NAA10	DISC1	MFAP5	COL25A1	MPV17	RNF125	COL13A1	DAO	TLK2	PRKG1	NDUFA6	GUSB	BTD	PLPBP	NONO	KCNA1	COL1A2	NDUFAF5	TBX4	AMER1	CHRNA1	HLA-DPB1	PLA2G6	EPHA4	SMARCAL1	PCK1	TRMU	NDUFV2	LBX1	TBX20	RHD	MATR3	ABCC6	ITGA3	NDUFS6	LDLRAP1	MYOZ2	CRYAB	RTEL1	CHRNA4	PLEC	PPARGC1A	FLNA	STX16	COX7B	AIP	MINPP1	DBH	SH2B3	TREM2	SDCCAG8	DKK1	CEP57	MMAA	UQCRFS1	TWNK	ARL13B	AK9	SLC34A2	MTFMT	ACADM	ALPL	CHRNB2	GLUL	RARS2	MMACHC	TLL1	NOTCH3	OFD1	CNTNAP2	VAMP1	STING1	LAMA2	TWIST1	CFAP410	SERPING1	PNKD	PRPS1	TRPV4	DDC	NADK2	PRNP	RPS26	MT-ND4	GLRA1	ANXA11	DOK7	GLT8D1	AARS1	SLC25A12	ZMYM2	CA5A	RBM10	IL6ST	GTPBP3	STAT2	UBE3B	ELN	NOD2	NPAP1	CTSD	ALMS1	MT-ND2	ADGRG1	CDC42BPB	PLCB4	NDUFS1	HTRA2	VAPB	TNNC1	MYLK	ZBTB16	TSFM	ANG	CACNA1I	GABRA1	H4C5	STAG2	SNORD116-1	KRT6A	TACO1	TSEN15	SFTPA2	TRMT5	C2CD3	SUCLG1	ACVRL1	CCR6	TPI1	BOLA3	ATP13A3	ZBTB7A	DNAJC21	SLC6A5	ZMPSTE24	KRT17	NHLRC2	MSX1	KRT16	SLC25A3	SMAD4	ARX	TGFB3	OPTN	DYNC2LI1	CAMK2B	NDUFAF6	MYH6	LAMC2	CACNA1S	DSC2	PEX5	NRXN1	CDC45	LMOD3	MT-TL1	RAPSN	KIT	CRLF1	MRPS34	FUZ	SIN3A	POLG2	TBR1	PGM1	EPOR	SCN1B	RPS28	PRKCSH	ADNP	HEPHL1	TPM3	B9D1	CA2	MTHFR	SMAD3
HP_OSTEOLYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOLYSIS	VDR	GJB2	ASAH1	PERP	CTSK	BUB3	LMNA	ZBTB20	APC	CEP57	COL3A1	CCN2	UROD	PDGFRB	ZMPSTE24	SLC29A3	SCN9A	TNFRSF11A	CAV1	SLCO2A1	KRAS	ATL3	MAFB	CDKN1B	MMP14	ASXL1	HPGD	CCR6	FLNA	FGFR1	IL1RN	MMP2	CHEK2	GBA1	BUB1B	GATA1	IDH1	IRF5	RETREG1	TET2	HNRNPA1	UROS	CDKN2B	NOTCH2	MTX2	BANF1	DDR2	WNK1	VCP	NOTCH3	ANTXR2	TRIP13	CTNNB1	RB1	ELMO2	SQSTM1	HLA-DRB1	SH3PXD2B	MBTPS2	PIGL	TP53	CBL	HNRNPA2B1	NF1	CDKN1A	CTSC	RUNX1	TRPV3	MEN1	KIF1A	PTH1R	IFIH1	ELP1	SCARB2	SRSF2	IDH2	CDKN2C	BUB1	ATP7A	MAN2B1	IKBKG
HP_CONGENITAL_CONTRACTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_CONTRACTURE	ADAT3	ERCC6	CHRNG	CACNA1E	CLCN3	GLE1	VRK1	MYBPC1	MYOD1	LMNA	ADGRG6	ACTA1	PPP3CA	DNM2	PDX1	ATAD1	COL13A1	GNPTAB	TRIP4	LMOD3	KLHL40	CNTNAP1	ASXL1	UBA1	TRPV4	SHPK	DPM2	SYNE1	CDK5	GLI3	ZC4H2	SLC25A46	MYH8	NEB	TPM2	CCDC47	YY1	ZMPSTE24	PI4KA	ALG3	SMPD4	CFL2	SLC5A7	EXOC7	LAMA5	FBN2	HSPG2	MUSK	BICD2	EXOSC8	DSE	TUBA1A	CHMP1A	ACADM	KBTBD13	NRCAM	GFM2	GFPT1	SLC35A3	LZTR1	TNNI2	PIP5K1C	REEP1	ERCC5	EXOSC9	ERGIC1	VAMP1	COL12A1	PIEZO2	FAM20C	VIPAS39	NUP88	KAT6B	KIDINS220	CHAT	SLC6A9	TBCD	NALCN	FKBP10	AIMP1	VPS33B	KIF5C	RFT1	CHRNE	TGFB3	POMT1	KLHL41	BLTP1	PAX7	KIF1A	MYPN	ZNF335	ZBTB42	CEP55	SCYL2	MYO9A	ERBB3	ZNHIT3	AUTS2	POMT2	STAC3	ITGB4	MYH3	SOX10	KCNJ11	ADGRG1	TRIP13	SRPX2	STAT3	PRG4	AGTPBP1	RIPK4	FKRP	ERCC2	MORC2	SLC18A3	GNB2	ABCC8	ADCY6	EXOSC3	NEK9	CHRNA1	PLEC	SLC9A6	IBA57	SLC25A1	TOR1A	REV3L	ALG14	KIF14	RAPSN	MTRFR	SNAP25	PLXND1	CAPN3	GCK	ERCC1	LGI4	FIG4	DOK7	CHST14	MYH2	AGRN	GBE1	TPM3	FKTN	GBA1	MED13L	INS	KCNK9	TSEN54	MAGEL2	OTUD5	DHCR24	SYT2	PIGS	LARGE1	ASCC1	PLOD2	TBX4
HP_ARTHROGRYPOSIS_MULTIPLEX_CONGENITA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTHROGRYPOSIS_MULTIPLEX_CONGENITA	KLHL41	ITGB4	MYH3	SOX10	ERCC6	GFM2	CHRNG	CACNA1E	KCNJ11	CLCN3	GLE1	NEB	TRIP13	STAT3	AGTPBP1	VRK1	RIPK4	ERCC2	MYOD1	LMNA	SLC18A3	GNB2	ACTA1	PPP3CA	ABCC8	ADCY6	PDX1	TPM2	COL13A1	GNPTAB	TRIP4	LMOD3	KLHL40	CNTNAP1	EXOSC3	UBA1	TRPV4	NEK9	CHRNA1	SHPK	PLEC	SYNE1	SLC9A6	IBA57	CDK5	SLC25A1	SLC25A46	MYH8	CHAT	TOR1A	REV3L	KIF14	RAPSN	ERCC5	ZMPSTE24	MTRFR	ALG3	SMPD4	CFL2	SLC5A7	SNAP25	EXOC7	PLXND1	LAMA5	HSPG2	MUSK	PIEZO2	GCK	BICD2	EXOSC8	DSE	TUBA1A	ERCC1	CHMP1A	LGI4	KBTBD13	GFPT1	SLC35A3	LZTR1	TNNI2	PIP5K1C	DOK7	EXOSC9	ERGIC1	CHST14	VAMP1	FAM20C	VIPAS39	FBN2	NUP88	AGRN	KAT6B	GBE1	TPM3	KIDINS220	SLC6A9	TBCD	GBA1	ERBB3	FKBP10	AIMP1	VPS33B	KIF5C	RFT1	CHRNE	INS	BLTP1	AUTS2	KIF1A	TSEN54	MAGEL2	OTUD5	MYPN	DHCR24	SYT2	PIGS	ASCC1	PLOD2	ZNF335	ZBTB42	ZC4H2	CEP55	PI4KA	SCYL2	MYBPC1	MYO9A	ZNHIT3	STAC3
HP_KYPHOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KYPHOSIS	BCOR	EXTL3	FKRP	ARSB	CTSK	VPS37D	NEMF	BMP1	HTT	CUL4B	HS2ST1	ARSL	HES7	SDHD	CDKL5	NSDHL	POMT1	ZBTB20	GLS	CASZ1	FKTN	MEGF8	IPO8	ACTA1	WIPI2	CANT1	FBXO28	PTPN11	SETD2	GNPTAB	ALG1	SYNE1	UBA1	TRPV4	SEC23B	MECP2	NSD2	MAGEL2	DHCR7	HSPG2	GLB1	ROBO3	SEC24D	ATP6V0A2	ZC4H2	LGI3	SLC26A2	FHL1	KCNN3	TPM2	ATP6V1E1	KLC2	MMP2	DMD	MBTPS2	ANKRD11	RPS6KA3	COL6A1	CCDC8	OBSL1	CFL2	TAF1	NDRG1	DYM	ZNF407	YARS2	DSE	COL6A2	MED12L	POLR3A	MLXIPL	ALMS1	ASXL2	WNT3A	VAMP1	CHRNG	KMT2C	GLE1	PIEZO2	FGFR3	AP1G1	HGD	PMP22	ERCC8	LMNA	PRDM16	NUP88	FARS2	SH3PXD2B	MYL2	DKK1	FKBP6	MGME1	AIMP1	TUBB4A	HDAC4	LBR	RUNX2	GTF2E2	PTCH1	APC2	JPH1	NEU1	PRX	COG1	COL12A1	TRIO	PDPN	PIK3CA	ACP5	ATP6V1A	COL6A3	SMC1A	TNFRSF11B	PRDM13	RECQL4	MTTP	SCARB2	DNA2	CLP1	CLIP2	HACD1	EBP	FIG4	SRD5A3	KANSL1	CTDP1	BICD2	MESP2	TMEM165	LAMA2	ROR2	PTEN	H1-4	ALDH18A1	IDUA	SOX9	FLNB	LETM1	CPLX1	IKBKG	DLL3	TMEM147	SNORD115-1	SPTBN1	SLC52A3	GDAP1	SDHB	SLC16A2	KMT2E	GABRD	PWRN1	NDUFS3	TOR1A	COL1A2	NAA10	ERCC6	WDR45B	ABCC6	PWAR1	FOXG1	INPP5K	MMP14	ATP7A	UPF3B	SPRED2	MYO1H	MPZ	NOTCH3	NSD1	SLC25A1	MBTPS1	DNMT3A	CHAT	UFSP2	SMS	P3H1	TTC5	B3GALT6	GBA1	CHST3	ERLIN2	TCTN3	CCDC32	PI4KA	KIF22	MFN2	ATRX	SELENON	MGAT2	MMP23B	MAPK8IP3	TRMT10A	BAZ1B	BIN1	ELN	ERCC1	SVIL	PHF6	COMP	CCDC22	RYR1	DVL3	AKT1	RBM28	CLCF1	FUT8	SLC52A2	NOTCH2	DVL1	PHF8	MAN2B1	ALDH3A2	NTNG1	SON	EIF4H	CCN6	TTI2	SURF1	FLNA	PUS1	DYRK1A	COL2A1	NXN	ITGA7	CBS	SIL1	LFNG	TLK2	OCRL	SRCAP	EZH2	BRAF	GUSB	RAB3GAP1	PRKAR1A	AUTS2	NONO	KCNA1	SLC5A7	PUF60	SYT2	FKBP10	PTDSS1	MCM3AP	GPR101	MED25	PRPS1	COL1A1	SLC1A2	WNT1	AMER1	AIP	USP8	RSPRY1	RIPPLY2	SDHC	SMARCAL1	P4HTM	SPG11	PNKP	SH2B1	MAP3K20	SPART	HLA-B	FA2H	TMEM43	NF1	DSTYK	MKRN3	EXOC6B	RAB18	POP1	MEG3	CSF1R	RNU12	EGR2	EMD	ATAD1	COL13A1	SPEN	CTBP1	SYNE2	METTL27	SKI	ARID1B	TGFB1	POLD1	FGFRL1	TONSL	SLC39A13	TBX5	GTF2IRD1	H4C9	PAPSS2	TMEM231	WDR81	HMGB3	PMM2	NARS1	XYLT2	FOXC2	GZF1	SNX14	GTF2H5	GRIA3	FBN2	LHX3	VPS37A	TBC1D20	KY	PLOD1	TELO2	GBA2	SBF2	RAB23	BCL7B	MEIS2	CRPPA	ERCC2	VPS13B	BGN	IDS	GABBR2	NCF1	FKBP14	GTPBP2	CLIC2	UBTF	MYH3	PEX7	AIFM1	NDUFAF4	RAB3GAP2	PPP1R15B	MPLKIP	LUZP1	SIN3A	ATG7	DCC	ACTB	RFC2	PPIB	MAPT	TBL2	FLVCR1	HACE1	TGFB3	NEPRO	CDH11	TUBB3	FBN1	NFIX	KRAS	GTF2I	PIK3R2	TRAPPC2	SUFU	PIGG	AGA	KCNAB2	PLAA	PIK3C2A	HERC2	NKX3-2	TFAP2A	NELFA	HGSNAT	MYO9A	STX1A	NDUFAF1	DNAJC30	NPAP1	PTCH2	ERCC3	SLC10A7	TBX2	NEB	RERE	CUL7	USF3	SLC18A3	GNPTG	VPS33A	SNORD116-1	AEBP1	PRKCZ	SETBP1	SETD5	B4GALT7	DLK1	MADD	TARS1	STAC3	WASHC5	L1CAM	TPI1	ALG9	HERC1	CARS1	BUD23	ATP6V1B2	NUP107	LRP5	CRLF1	SNAP25	USP7	KLHL41	SHROOM4	MAP2K1	PPP1R12A	GJB1	RNF113A	CYP27A1	TPM3	P4HB	GORAB	RMRP	MVK	AGRN	UBE4B	MESD	PDE11A	TCF12	GTF2IRD2	LIMK1	NRAS	GNAS	HTRA1	LMOD3	RTL1	NPR2	TMEM270	MRPS34	COPB1	RET	AIMP2	GALNS	ZMPSTE24	CHST14	JAG1	PLOD2	HRAS	KLLN	SNRPB	PRKG2	ARID2	FUCA1
HP_COXA_VARA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COXA_VARA	TRPV4	COL9A3	DVL1	COL2A1	DDRGK1	PCYT1A	CCN6	CFAP410	PCNT	PRG4	AIFM1	CANT1	COL9A2	FN1	FLNB	IHH	KDELR2	COL1A1	ATP6V0A2	POP1	ADAMTS2	FKBP10	DVL3	EXT1	MMP13	TBX4	SLC26A2	FZD2	RUNX2	XYLT1	TCIRG1	HSPG2	MEGF8	ENPP1	CSGALNACT1	SBDS	DMP1	DYM	SERPINF1	WNT5A	ADAMTSL2	TONSL	COL1A2	UFSP2	PEX5	TRAPPC2	ORC6	RPL13	DNAJC21	SLC2A10	COL10A1	MATN3	NFIX	RMRP	CRTAP	NKX3-2	RAD21	COMP	EXT2	COL9A1	RSPRY1	SRP54	ATP7A	RNU4ATAC
HP_ABNORMALITY_OF_THE_KNEE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_KNEE	SCN1A	ARSB	KAT6B	IARS2	CYP3A4	COL2A1	VPS37D	CYP27B1	BHLHA9	PI4KA	GJB2	HS2ST1	ZBTB20	TMTC3	ZNF699	GAN	FLNA	FBN1	MEGF8	IPO8	IDH1	ACTA1	ORC1	CANT1	KRAS	RECQL4	PLOD1	CAMK2A	STX1B	CDT1	DPYSL5	SMAD2	UBA1	TRPV4	CTNS	SFRP4	SLC35A3	SCN9A	SHH	TCTN3	GP1BB	TBC1D7	SLC26A2	SLC39A8	ARFGEF2	TPM2	ATP6V1E1	IDUA	PUS3	ZEB2	EXT1	B4GALT7	RREB1	NALCN	COL6A1	GDF5	KAT6A	COL10A1	CFL2	FGFR3	SKI	UNC80	GABRD	HS6ST1	DYM	DPM1	ORC4	HSPG2	CYP19A1	RPGRIP1L	JAG2	CREBBP	CDC6	MLXIPL	H3-3B	MTX2	DDRGK1	COL6A2	CHRNG	ERLIN1	TRPS1	NT5C2	LOXL3	PIEZO2	WNK1	YY1	HGD	PRG4	ERGIC1	PTPN2	TBX1	SH3PXD2B	MYL2	BPNT2	LONP1	C12orf57	FKBP6	TRIM2	KIF7	TBX4	DMD	POLR3A	VCP	PRKG2	MCOLN1	ANO5	TNFRSF1A	RUNX2	COL6A3	CHST11	IL2RA	CLIP2	HACD1	AEBP1	EVC2	EXT2	RMRP	CTDP1	COL9A1	BICD2	EFL1	ARF1	GPC6	SCN1B	ENPP1	MAN2B1	SOX9	SNAP25	ASAH1	FLNB	MYL1	DHX16	EBP	SNORD115-1	CSGALNACT1	SPTBN1	PTH1R	MYO9A	STXBP1	PWRN1	PTDSS1	RTTN	GNB2	CDC45	MMP13	AP4B1	UBR7	PWAR1	GMNN	ATP7A	FBLN5	GABRG2	FKBP10	COL9A3	NDUFAF6	DMP1	SCARF2	MAP1B	LTBP1	CHST3	PIGY	RETREG1	KIF22	FLNC	ATRX	SELENON	MATN3	VPS13B	MAPK8IP3	PRKACB	COMT	COL9A2	BAZ1B	PHEX	PRKACA	ELN	ERCC1	UFSP2	SVIL	HBB	COMP	EP300	NRAS	SEC24C	CHRNB1	WASF1	NOTCH2	COL7A1	SHOX	IFT57	SDHAF1	MYOT	ERLIN2	SMAD3	MAGEL2	IHH	EIF4H	CCN6	XYLT1	RYR1	MAP3K7	MCTP2	HRAS	COL25A1	ITGA7	CBS	ERMARD	PTPN22	LBR	OCRL	COL1A2	CLCN7	EZH2	SDHD	PRR12	AP4E1	GUSB	KIF1A	BRF1	SPART	ZPR1	NLRP3	HCN1	HNRNPH1	PEPD	SYNE1	COL5A1	PMP22	FDFT1	GABRA1	RSPRY1	ANKLE2	EMD	ANKRD55	P4HTM	CD247	RNU4ATAC	HYAL1	ERCC6	MAP3K20	ABCC6	POLRMT	CENPT	TRIP11	B3GALT6	MMP9	LMBR1	NF1	COG5	MKRN3	FN1	COL11A1	GLI3	ALDH18A1	HPGD	BCOR	SLCO2A1	METTL27	CNTNAP1	ORC6	ARID1B	SLC18A3	TGFB1	SIK3	IL2RB	TONSL	BAG3	WDR62	GTF2IRD1	CPT2	EXOC6B	GLI1	SRD5A3	GRIA3	MYL11	FBN2	MAP2K2	ECEL1	GMPPB	SCN2A	MAB21L2	PSAT1	RAB23	BCL7B	MPZ	KY	NCF1	COL12A1	MYH3	RPL10	PCDH19	LMX1B	SLC6A9	RFC2	ADGRV1	TBL2	NEPRO	TUBB3	IFT172	GTF2I	PIK3R2	IFIH1	TRAPPC2	STAT4	DONSON	TFE3	COL1A1	HERC2	UGP2	NKX3-2	ARSK	EVC	STX1A	HEATR3	LIFR	VDR	DNAJC30	NPAP1	ESCO2	SLC10A7	NEB	NEDD4L	GFPT1	COL5A2	ALG2	ACAN	COLQ	PRMT7	HIRA	WNT7A	GNPTG	TELO2	DYSF	SNORD116-1	GLB1	SDHB	BRAF	KRT5	RBM8A	AP4M1	DNMT3A	MAN2C1	ARVCF	RAB33B	TOR1A	FGD1	EIF2AK3	RPL13	SF3B2	BUD23	PITX1	CTC1	KLHL41	ZSWIM6	DPAGT1	GJB6	LGI4	PKDCC	GNPTAB	MIA3	PLOD2	SATB2	LAMB2	TPM3	LMBRD2	NSD1	PTEN	ARL6IP1	C19orf12	SLC25A46	TTC26	SCYL2	SDHA	PIGA	GTF2IRD2	LIMK1	USP9X	PSTPIP1	LMOD3	SERPINH1	SYT2	FZD2	TMEM270	DDR2	AIFM1	MEFV	JMJD1C	GALNS	ALG14	B3GAT3	DYNC2LI1	CYP2R1	MAP2K1	AP4S1	ANAPC1	TNFSF11	UFD1
HP_NEUROPATHIC_ARTHROPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEUROPATHIC_ARTHROPATHY	NTRK1	ELP1	ATL3	ATL1	SPTLC2	SPTLC1
HP_ABNORMALITY_OF_FEMUR_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FEMUR_MORPHOLOGY	EXTL3	TRPV4	IARS2	SEMA3E	FANCB	COL2A1	CYP27B1	POU1F1	GDF5	MATN3	BHLHA9	HS2ST1	ARSL	TREX1	UBE2T	LMNA	IFNGR1	PSAP	LEMD3	RNU4ATAC	CANT1	GNPTAB	CAMK2A	IFT140	FZD2	TCIRG1	MEGF8	TMEM38B	GLB1	ATP6V0A2	RSPRY1	GNAS	TBXAS1	DYNC2H1	FBN1	TAPT1	CHEK2	TRAF3IP1	XYLT2	EXT1	B4GALT7	COL10A1	CLCN7	FGFR3	SLC26A2	RINT1	HNRNPR	DYM	TINF2	LAMA5	TMEM67	HSPG2	PALB2	FLNA	PTH1R	ALG12	NRCAM	POLR3A	TPO	BRCA2	MTX2	DDRGK1	PCYT1A	GJA1	TRPS1	CFAP410	IYD	HSPA9	PRG4	COL1A1	NEK8	KIAA0586	HDAC4	RAD51C	FLNB	DUOXA2	TBX4	RUNX2	PCNT	SKIC3	CSPP1	ANKH	COG1	LHX3	MAD2L2	SMARCAL1	CHD7	SLC39A13	FANCA	INPP5K	NEK9	PDE4D	TNFRSF11B	SLC2A10	BRIP1	EXT2	COL9A1	RFWD3	SRP54	MAN2B1	CYP2R1	IDUA	SOX9	CSGALNACT1	STXBP1	ENPP1	CLCN5	COL1A2	SHOX	MMP13	ADAMTS2	ABCC9	TG	FUCA1	ATP7A	BRCA1	SBDS	DMP1	UFSP2	SCARF2	P3H1	CHST3	SGMS2	KIF22	UNC45A	TNFRSF11A	POLR1A	POR	PHEX	GBA1	COMP	KIFBP	GTF2E2	RB1	IHH	SIL1	B3GALT6	CCN6	XYLT1	ERCC4	TMEM53	ERCC6	TP53	EFL1	LBR	EZH2	BRF1	TRIP11	DUOX2	HNRNPH1	DYNC2I1	FKBP10	PLEKHM1	ACVR1	VDR	FANCC	MGAT2	TSHB	MMP9	AFF3	COL9A2	FN1	GLI3	NANS	POP1	MEG3	CSF1R	AMMECR1	DVL3	TSHR	SLC12A2	ARID1B	TGFB1	GLA	WNT5A	TONSL	PEX5	GJB2	COL11A2	CCDC47	TENT5A	EXOC6B	RMRP	POC1A	CHD4	LEMD2	WNT7A	CREBBP	BGN	NGLY1	AIFM1	CRKL	KDELR2	LMX1B	TRPV6	ACTB	ARCN1	EED	COG8	FANCD2	TGFB3	NEPRO	RASA1	IFIH1	GPC6	FANCI	TRAPPC2	TMEM251	PROP1	PIK3C2A	CRTAP	NKX3-2	MAPK1	PI4KA	XRCC2	BMPR1B	ADAMTSL2	LTBP3	COL9A3	SLC10A7	DVL1	SETBP1	ATRX	BCR	SRCAP	LHX4	ACAN	GNPTG	RAB23	SLC35A2	SALL4	COG4	SUCLG1	RBM8A	DLK1	AGPS	MADD	COL11A1	SERPINF1	RAB33B	PUF60	ORC1	KCNJ8	EIF2AK3	FANCF	RPL13	DNAJC21	ZMPSTE24	NFIX	RAD21	CTC1	SLC5A5	CDC6	GJB6	CPLANE1	RAB3GAP2	PLOD2	HESX1	LIFR	CYP27A1	GORAB	FANCM	SLX4	PLOD3	FANCL	RTL1	TBX15	RET	GALNS	OTUD5	SLC34A3	FANCE	LRP5	ORC6	FANCG	FGFR2	RPS6KA3	RAD51	FIBP	PRKG2	EP300
HP_CAUDAL_APPENDAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAUDAL_APPENDAGE	MASP1	COLEC10	DCHS1	COLEC11	FAT4	TRPV4
HP_HIP_DISLOCATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIP_DISLOCATION	BRD4	UBA2	CHRM3	MAP3K20	COL1A1	ZIC2	KAT6B	IARS2	FANCB	GDF5	GLRB	CLCN3	STIL	CUL7	PLCH1	UBE2T	COL3A1	B3GALT6	AFF3	MYH8	COL5A2	DSTYK	ACTA1	TGIF1	EXOC6B	GLI3	IPO8	ALDH18A1	NODAL	LTBP1	COL13A1	FBLN5	GNPTAB	PTCH1	PLOD1	OCRL	RYR1	CTBP1	KDM6A	DVL3	FZD2	HPRT1	DPYSL5	TDGF1	SIX3	ATP6V1A	SIX1	HDAC8	TRIM8	DHCR7	SLC35A3	SLC12A2	ATP6V0A2	WNT5A	LONP1	FGFRL1	TONSL	SMOC1	COL1A2	TPM2	CCDC47	ZIC3	GJA1	COL6A1	CCDC8	DLL1	MBTPS2	OBSL1	CFL2	FOXH1	SMC1A	SLC5A7	POMT2	GAS1	CD96	FGF8	WNT7A	BICD2	PALB2	ECEL1	COL6A2	SHH	FLNA	HK1	SEC31A	BRCA2	POMT1	CHRNG	LARGE1	MASP1	VAMP1	COL12A1	PIEZO2	MYH3	NGLY1	EFEMP2	AARS1	ERGIC1	SLC6A9	ZC4H2	TBCD	PPP2R5D	MYL2	COLEC11	IL6ST	HDAC4	RAD51C	RUNX2	FANCD2	HSPG2	GEMIN4	HACE1	FKRP	MAD2L2	DISP1	NFIX	GLRA1	FHL1	FANCA	IFIH1	FANCI	INPP5K	ATR	COL6A3	CDON	TMEM251	TFE3	SLC2A10	RECQL4	GLI2	MACF1	HACD1	BRIP1	AEBP1	NKX3-2	FIG4	KANSL1	MYO9A	RFWD3	XRCC2	EYA1	LMNA	DHODH	ATAD1	EXOSC3	SOX9	RAD21	RNU4ATAC	FLNB	DVL1	LETM1	FGFR1	CPLX1	ELN	EBP	NEB	PTRH2	ABCC9	TNNT3	ATP6V1E1	KMT2D	OSGEP	ZNF469	MKKS	CEP85L	SLC18A3	YWHAE	ADAMTS2	TELO2	HOXA11	COLEC10	STAG2	GSC	EIF4A3	SLC6A5	NSD2	RBM8A	BRCA1	UBE3B	SLC25A1	ADAMTSL2	PYCR1	PUF60	CHAT	PTEN	CHST3	ALG9	TOR1A	GMPPB	SMC3	GPC3	EIF2AK3	FANCF	PAFAH1B1	LRP4	ZMPSTE24	KIF22	DNAJC21	SNAP25	SMO	SELENON	SF3B4	KLHL41	SHROOM4	VAC14	ERCC1	AKT1	PYCR2	FUT8	GPC4	TPM3	FANCM	FBLN1	FLI1	SLX4	AGRN	SIL1	SCYL2	NIPBL	XYLT1	NAA10	POLR3B	ERCC4	FANCL	USP9X	MCTP2	C12orf57	LMOD3	COL25A1	PIGL	COL2A1	ITGA7	COX8A	TBX15	MYH7	THRA	GPHN	NSDHL	B3GAT3	FANCE	FANCG	HNRNPH1	SYT2	OFD1	GORAB	SNRPB	APC	CLTCL1	COL5A1	PORCN	RAD51	FANCC	ARNT2	ATP7A	MAP3K7
HP_MULTIPLE_JOINT_CONTRACTURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_JOINT_CONTRACTURES	RYR1	FLRT1	RBM28	ERCC3	ERCC2	PIP5K1C	DOK7	TGM1	POMT1	MYOT	RNF113A	MYH7	RFC1	ALG14	CHRNG	TTN	LARGE1	VPS11	COL12A1	TRIP4	POMT2	NUP88	RNASEH2A	MYBPC1	MYOD1	LMNA	MPLKIP	RTTN	TOR1A	B3GALT6	RNASEH2C	IDH1	SLC39A14	RNU7-1	GPKOW	IFIH1	COL6A2	KLC2	SLC1A4	SLC18A3	SAMHD1	ADAR	GTF2E2	SELENON	FLNA	TARS1	FKRP	NDE1	GMPPB	ZMPSTE24	MED12	RAPSN	PIGS	CARS1	DNA2	COL6A3	TREX1	LSM11	COL6A1	PMM2	UBA1	GTF2H5	MUSK	TUBA1A	KY	RNASEH2B	EXOSC9
HP_ARTHRALGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTHRALGIA	NLRP3	TREM2	SLC40A1	ARSB	ABCC6	TYROBP	VPS37D	COL2A1	KIT	APC	LDLRAP1	IL10	TET2	ANKH	C1R	TNXB	UBA1	LMNB2	IRF2BP2	LEMD3	TLR4	HPGD	MVK	F8	SLCO2A1	TNFRSF11B	HFE	POMP	METTL27	SLC26A2	CD244	ASXL1	TREX1	SMAD2	IL6	STAT4	SFRP4	GLA	CIITA	C1S	AIP	IL1RN	COL11A2	MMP2	HLA-DRB1	GTF2IRD1	TNFRSF1A	FTL	SEPTIN9	COL10A1	PSMB9	IRF4	NFKB1	HBG2	PTPN22	ERCC3	CTLA4	ERAP1	MTX2	HLA-DQB1	BCL7B	MLXIPL	ANTXR2	NCF1	PRTN3	CTNNB1	STING1	MYH3	ANKRD55	PLCG2	HGD	PSMB8	ICOS	MAFB	PTPN2	IFNGR1	MEFV	HLA-DPB1	NLRP12	FKBP6	KLF1	COL11A1	RFC2	KIF7	SPP1	XPC	TBL2	CHST3	TRPS1	MSMO1	IL2RB	MFN2	CD81	GTF2I	LACC1	TRAPPC2	SLC22A4	HLA-B	HBB	COL1A1	IL2RA	CLIP2	CR2	CD19	TNFRSF13B	IL12A-AS1	ASAH1	STX1A	ENPP1	BMP6	LPIN2	NOD2	IGKC	DNAJC30	TLR7	COL5A2	CCN2	SLC12A3	LMNA	GNB2	VCP	GNPTG	IL12B	DDB2	MLX	PIGT	CAV1	C4A	DSE	SRSF2	LDLR	IL12A	XPA	ERCC2	IL23R	CLCNKB	NLRC4	BCL11A	CCR6	NFKBIL1	MPL	APOB	PSTPIP1	IRF5	COL9A1	BUD23	HBG1	SOST	JAK2	BAZ1B	PHEX	ELN	UFSP2	HLA-DQA1	COMP	PKDCC	ERCC4	NFKB2	NOTCH2	ABCG5	IRAK1	SMPD1	CCR1	GPR101	ABCG8	EIF4H	TNFRSF13C	CCN6	PSMB4	GTF2IRD2	LIMK1	OTULIN	DDRGK1	CBL	MIF	ADA2	MS4A1	ATP7B	KLRC4	IGHG2	TMEM270	RUNX1	ASPN	TNFSF12	HLA-DPA1	COPA	UBAC2	EPOR	MATN3	P4HA2	COL5A1	PRKCD	PCSK9	ERCC5	PTH1R	FAS	CD247	RNU4ATAC
HP_CALCIFIC_STIPPLING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALCIFIC_STIPPLING	PEX5	EBP	GNPAT	HSD17B4	PEX2
HP_ASPIRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASPIRATION	SLC1A3	CREBBP	SEC31A	DHX16	MATR3	ADGRG1	ATP1A3	GRB10	GPHN	DST	DCX	GLRA1	SRPX2	LRP12	LAMA2	DOLK	CACNA1A	PI4KA	GNB2	NAA10	GM2A	GRM7	FOXG1	FBXO28	ADNP	MID1	ATP1A2	ATXN8OS	EP300
HP_RECURRENT_BRONCHITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_BRONCHITIS	GAS8	EGFR	IL10RB	CD79A	CD19	DNAAF1	NFKB2	TAP1	TNFSF12	ICOS	ATM	TAP2	TNFRSF13B	RPGR	CR2	DNAI1	TAFAZZIN	TNFRSF13C	IL17RA	IRF2BP2	MGP	SMARCA2	NBN	NFKB1	IL2RG	CD79B	PRKCD	GNPTAB	FCHO1	TAPBP	MS4A1	DNAJB13	CD81	MAGT1
HP_URINARY_BLADDER_SPHINCTER_DYSFUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URINARY_BLADDER_SPHINCTER_DYSFUNCTION	ATL1	CLN3	ABCD1	FXN	MPZ	VCP	GBE1	HSPD1	COL7A1	GFAP	MMP1	KIF1A	REEP2	WASHC5	ATXN3	SETX	AP5Z1	HNRNPA1	SPG11	SPAST	GJC2	FMR1	SPG7	PMP22	KIF5A	ATXN1	ATXN2	NIPA1	PIK3R5	HNRNPA2B1	WWOX	ZFYVE26	RTN2
HP_LYMPHADENITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LYMPHADENITIS	CYBB	CYBC1	IL12RB1	NCF2	MYD88	CYBA	RAC2	CXCR4	RAG2	IRF8	ZAP70	NCF1	RBCK1	STAT2	MVK	RAG1
HP_ABNORMAL_T_CELL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_T_CELL_MORPHOLOGY	FOXP3	RAG2	PIK3CD	WAS	PIK3CG	IL2RG	CD247	CASP10	FAS	TBX2	RASGRP1	PTPRC	RFX5	DOCK8	RFXAP	RAG1	DOCK2	NBN	CASP8	EXTL3	ATP6AP2	IL7	POMP	FCHO1	IL7R	NSMCE3	JAK3	PIK3R1	FOXN1	DCLRE1C	IVNS1ABP	BCL10	MYC	CTPS1	CD4	IL2RB	CD3E	GATA2	RAC2	ZAP70	HLA-DRB1	CARD11	RFXANK	SP110	DNMT3B	UNC119	ITK	AP3B1	BLM	BCL11B	LCP2	MAGT1	IKBKB	NCKAP1L	RIPK1	WDR1	ATM	PRKCD	LAT	PGM3	SASH3	SYK	LEPR	KNSTRN	DEF6	OTULIN	MCM10	FASLG	CD8A	TCF3	IL2RA	SMARCAL1	ACP5	CD3G	CTNNBL1	LCK	ADA	RHOH	LEP	NHEJ1	WIPF1	CD3D	PNP	BTNL2	EPG5	HLA-DPB1	LIG1	CIITA	TOM1	RPA1
HP_ABNORMAL_B_CELL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_B_CELL_MORPHOLOGY	RAG2	DCLRE1B	PIK3CD	B2M	BTK	NCKAP1L	CASP10	TBX2	RIPK1	RASGRP1	TRNT1	LRBA	WDR1	SOCS1	PRKCD	PTPRC	IKZF1	MYSM1	FAS	STAT1	PLCG2	ADA	SASH3	RAG1	SYK	ELF4	BACH2	NBN	KNSTRN	TCF3	FNIP1	MYD88	ATP11A	MCM10	POMP	FCHO1	HYOU1	IL21	CD19	CARD11	FASLG	ALG12	NFKB2	TOM1	PIK3R1	DCLRE1C	IVNS1ABP	REL	IL2RA	CTPS1	ICOS	RAC2	ARHGEF1	CTNNBL1	PRIM1	TET2	IRF2BP2	IGLL1	IKZF3	NHEJ1	SP110	CD79B	UNC119	SLC39A7	TLR8	IKBKG	SPI1	IGHM	GFI1	LCP2	DOCK8	IL6R	JAK3	IKBKB
HP_DECREASED_SPECIFIC_ANTI_POLYSACCHARIDE_ANTIBODY_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SPECIFIC_ANTI_POLYSACCHARIDE_ANTIBODY_LEVEL	COG6	CASP10	PRKCD	FAS	WAS	RASGRP1	FASLG	IL2RA	MAGT1
HP_ABSENCE_OF_LYMPH_NODE_GERMINAL_CENTER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENCE_OF_LYMPH_NODE_GERMINAL_CENTER	ADA	PTPRC	CD40LG	SP110	EPHB4	CD40
HP_DECREASED_CIRCULATING_TOTAL_IGM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_TOTAL_IGM	IGKC	PIK3CG	IL2RG	BTK	ATP6AP1	BLM	TCN2	LRBA	MOGS	PRKCD	PTPRC	TNFRSF13C	FAS	BLNK	PLCG2	RNF168	ADA	SASH3	NFKB2	DOCK8	RAG1	SYK	PIGT	CASP10	BACH2	STAT2	PIK3CD	WAS	KNSTRN	CASP8	EXTL3	FNIP1	ADA2	LAMTOR2	IGHG2	CD19	CARD11	FASLG	POLE	TCF3	IVNS1ABP	IKBKG	RASGRP1	SIK3	ICOS	CNBP	RAG2	ARHGEF1	IL6ST	PRIM1	IRF2BP2	IGLL1	RAC2	CD79B	TYMS	SPI1	TNFRSF11A	LIG1	CTLA4	TOM1	IL6R	JAK3
HP_GENU_VALGUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENU_VALGUM	ARSB	IARS2	COL2A1	VPS37D	HS2ST1	CENPT	ZBTB20	B3GALT6	NF1	COG5	MKRN3	COL9A2	ZNF699	GAN	COL11A1	MEGF8	IPO8	ACTA1	KRAS	BCOR	OCRL	CAMK2A	METTL27	EXT1	SLC26A2	TRPV4	CTNS	SFRP4	TGFB1	TBC1D7	TONSL	TPM2	IDUA	GTF2IRD1	PUS3	ZEB2	COL9A1	KAT6A	CFL2	SKI	COMP	GLI1	HS6ST1	DYM	HSPG2	MAP2K2	CYP19A1	RPGRIP1L	RAB23	BCL7B	MLXIPL	MPZ	H3-3B	MTX2	VPS13B	TRPS1	NCF1	LOXL3	BPNT2	LONP1	FKBP6	RFC2	KIF7	TBL2	CHST3	COL9A3	NEPRO	TUBB3	IFT172	GTF2I	PRKG2	IFIH1	RUNX2	TFE3	HERC2	UGP2	CLIP2	NKX3-2	EVC2	EXT2	ARSK	EVC	STX1A	HEATR3	LIFR	MAN2B1	VDR	DNAJC30	NPAP1	SLC10A7	SNORD115-1	CSGALNACT1	NEB	SPTBN1	FBN1	PWRN1	ENPP1	ACAN	GNPTG	SNORD116-1	GLB1	PWAR1	BRAF	ATP7A	NDUFAF6	RAB33B	ORC1	FN1	EIF2AK3	SF3B2	BUD23	KIF22	ATRX	CTC1	MATN3	KLHL41	MAPK8IP3	PRKACB	FLNA	SHOX	BAZ1B	PHEX	NOTCH2	PRKACA	ELN	COL10A1	HBB	IFT57	NSD1	MAGEL2	EIF4H	CCN6	GTF2IRD2	LIMK1	MCTP2	LMOD3	SERPINH1	CBS	LBR	TMEM270	CLCN7	GUSB	BRF1	SPART	ZPR1	GALNS	B3GAT3	DYNC2LI1	MAP2K1	COL1A2	TNFSF11	PEPD	MMP13	PMP22	RSPRY1	P4HTM
HP_MENINGIOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MENINGIOMA	NRAS	AKT1	PIK3CA	MBD4	SMARCE1	CREBBP	SDHD	NF1	SDHB	BAP1	MN1	TRAF7	SUFU	WRN	USF3	PTEN	TERT	SMARCB1	CCM2	EIF3F	PDCD10	PDGFB	CDKN1B	CHEK2	CDKN1A	NF2	KRIT1	SEC23B	MEN1	ARMC5	SMO	NTHL1	KLLN	GNAS	CDKN2C	LMNA	CDKN2B	SDHC	EP300
HP_RHABDOMYOSARCOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RHABDOMYOSARCOMA	DICER1	MLH1	BUB3	TRIP13	NF1	CEP57	PTCH1	TP53	NRAS	CHEK2	BUB1B	NBN	MDM2	SLC22A18	KEAP1	FOXO1	MC1R	CDKN2A	HRAS	BUB1	PAX7	PAX3
HP_SQUAMOUS_CELL_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SQUAMOUS_CELL_CARCINOMA	TMC6	SASH1	ERCC3	ERCC2	BLM	ERCC5	RNF113A	MVD	GJB2	COL7A1	MMP1	MC1R	LAMC2	WNT10A	STAT1	NUTM1	LAMB3	FERMT1	TINF2	DOCK8	MPLKIP	NLRP1	RSPO1	SLX4	TNFRSF10B	IL7	COL14A1	SLC17A9	KRT5	OCA2	GTF2E2	LMNA	CTSC	TOM1	PSENEN	DDB2	ERCC4	TARS1	TYR	FDPS	SMARCAD1	WRN	MVK	LAMA3	DKC1	ATR	XPC	RECQL4	AAGAB	CIB1	BRD4	POLH	CDKN2A	GATA1	TMC8	ANAPC1	CARS1	UROS	NTHL1	TERT	ING1	TYMS	GTF2H5	KRT14	TERC	GJB6
HP_MELANOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MELANOMA	NRAS	MBD4	PERP	TP53	BAP1	SDHD	PALB2	SDHB	BRCA1	BRCA2	ERCC2	USF3	BRAF	CDKN2A	MC1R	DDB2	SF3B1	KRAS	CDK4	OCA2	TERT	XPA	SEC23B	MGMT	GNA11	TYR	RAD51C	PALLD	TERF2IP	RECQL4	AAGAB	MDM2	POLH	MRE11	BRIP1	ERCC4	SLC6A17	TYMS	CYSLTR2	ERCC3	ACD	MITF	POT1	RABL3	CDKN2B	ERCC5	SMAD4	COL7A1	MMP1	PTEN	GNAQ	CHEK2	KANSL1	RAD51	RAD50	MBTPS2	COL14A1	ERCC6	AKT1	XPC	CTSC	RNF43	TRPV3	PIK3CA	RAF1	WRN	RAD51D	CXCR4	BARD1	HRAS	ANAPC1	KLLN	STK11	PTPN11	SDHC	NBN
HP_MYELODYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYELODYSPLASIA	ELANE	LIG4	FANCB	ATRX	BUB3	SF3B1	KIT	CEP57	UBE2T	TET2	CLPB	DDX41	UBA1	HAX1	RPS26	GNB1	HSCB	RPL26	RPS19	TP53	RPS24	SRP54	SRSF2	GATA1	THPO	SBDS	SAMD9	BRCA1	GFI1	RPS27	TSR2	CALR	ADH5	ADA2	GATA2	RPS28	MPL	H4C9	RECQL4	BUB1B	FANCF	DNAJC21	MDM2	CSF3R	TCIRG1	RPL15	CDKN2A	RFWD3	JAK2	RPL11	BLM	PALB2	TERT	RPS14	RPS15A	RPS29	RPS20	NAGS	BRCA2	RPL27	NBEAL2	RPL35A	TRIP13	SRP72	FANCM	MYSM1	CHEK2	SLX4	TINF2	ERBB3	ERCC4	FANCL	RPS17	SMARCD2	RAD51C	EFL1	GINS1	NF1	FANCD2	RPS10	BRAF	RUNX1	FANCG	MAD2L2	RAF1	RPL35	SH2B3	SAMD9L	FANCA	FANCI	DKC1	FANCE	ANAPC1	BRIP1	RPS7	RPL18	PTPN11	ASXL1	TERC	RAD51	XRCC2	BUB1	RPL31	FANCC	HSPA9	RPA1	RPL5
HP_HYPOPLASTIC_ILIAC_WING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_ILIAC_WING	CREBBP	SOX9	DLK1	COL2A1	EZH2	EP300	ARSB	CTSK	PCNT	FN1	ERCC6	RIPK4	HDAC6	TMEM251	CCBE1	TBX15	WNT7A	MEG3	NKX3-2	EVC2	ERCC8	DYM	LAMA5	RTL1	TRAPPC2	IHH	SMAD4	EVC	EED	RUNX2	GATA1
HP_ABNORMAL_ILIUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ILIUM_MORPHOLOGY	IDUA	SOX9	RNU4ATAC	ARSB	PTH1R	CTSK	HLA-B	HSPG2	MATN3	INPPL1	ACP5	ZBTB20	PCNT	COL2A1	TRIP11	B3GALT6	GPC4	RIPK4	HDAC6	EXOC6B	TWIST2	GPX4	NANS	POP1	WNT7A	IDH1	GNPTG	RPS19	MEG3	RAB23	ERCC8	EXTL3	GLB1	TRPV4	GNPTAB	SLC26A2	DLK1	ENPP1	FGFR3	SEC24D	DMP1	PEX5	FN1	EIF2AK3	TBX15	COL11A2	DYM	LAMA5	VPS33A	IHH	FLNA	CREBBP	POLR3A	VANGL1	FUZ	EP300	IFT81	SEC23A	PCYT1A	FLNB	BGN	PLCB3	RPS6KA3	LIFR	PIGN	AIFM1	RMRP	KAT6B	LMX1B	CCN6	PHEX	LONP1	RTL1	SMAD4	EED	MMP13	GPC3	RUNX2	SLC35D1	PAM16	GATA1	DDR2	EZH2	NEPRO	COL11A1	GALNS	TNFRSF1A	ERCC6	TMEM251	CCBE1	AEBP1	NKX3-2	PLEKHM1	EVC2	CEP120	TRAPPC2	EVC	TMEM67	AMER1	WDR19	ATP7A	MAN2B1
HP_NARROW_ILIAC_WING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_ILIAC_WING	PEX5	RPS6KA3	SOX9	ZBTB20	CTSK	NANS	SEC24D	EIF2AK3	COL2A1	SEC23A
HP_FLARED_ILIAC_WING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLARED_ILIAC_WING	IDUA	CREBBP	TRPV4	FLNA	DDR2	EP300	ARSB	BGN	TRIP11	B3GALT6	GPC4	AIFM1	IHH	GLB1	GPX4	GNPTG	PHEX	RAB23	GNPTAB	VPS33A	MMP13	GPC3
HP_OBSTRUCTIVE_SLEEP_APNEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OBSTRUCTIVE_SLEEP_APNEA	CREBBP	GNPTAB	MAGEL2	PRKAR1B	PCGF2	SATB2	SNRPN	EP300	CTSK	NACC1	SH3BP2	NOTCH3	CDC42BPB	IDS	VAMP1	NGLY1	OCA2	AGRN	SLC18A3	GNAI3	EDN1	PIGT	IDUA	NDN	CHAMP1	GRIN1	H4C5	FBXO28	COL13A1	CACNA1C	TRPV4	PLCB4	ARCN1	HRAS	POGZ	DPH5	ASXL1	DNA2	DMD	EXOC2	FGFR3	PRR12	GUSB	SLC25A1	ATN1	GRB10	CHAT	LRPPRC	CCDC47	NONO	DDB1	NALCN	SYT2	AHDC1	NFIX	MCM3AP	SKI	BMP2	ZMYM2	UNC80	SLC5A7	SNAP25	BICD2	SIM1	MYO9A	CA2	TERT	FXR1
HP_CENTRAL_APNEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_APNEA	CEP290	DISP1	TECPR2	MAGEL2	SHH	FOXH1	SNRPN	FGFR1	ZIC2	FGF8	TDGF1	WFS1	STIL	ARSL	PLCH1	DLL1	ATP1A3	GAS1	PTCH1	OCA2	TGIF1	SLC2A1	NDN	PSAP	NODAL	GLI2	CDON	STAG2	SMC1A	SIX3	AHI1	INPP5E	TMEM216	TBR1	TSEN54	CISD2	SYT1	FGFR3	RPGRIP1L
HP_APNEIC_EPISODES_PRECIPITATED_BY_ILLNESS_FATIGUE_STRESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APNEIC_EPISODES_PRECIPITATED_BY_ILLNESS_FATIGUE_STRESS	SYT2	CHAT	CHRNE	SLC5A7	SNAP25	SLC25A1	COL13A1	VAMP1	PDHA1	MYO9A	AGRN	SLC18A3
HP_EXERTIONAL_DYSPNEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXERTIONAL_DYSPNEA	PML	MYL3	TBX20	IRF2BP2	TERT	GATA6	SLC25A4	TERC	CYB5R3	FOXE3	FIP1L1	CITED2	RTEL1	LRP4	TNNC1	NABP1	MYLK	COLQ	ZBTB16	PRKAR1A	PLEC	TGFB2	CSF2RB	SFTPA2	TRMT5	MUC5B	AGRN	DNA2	CHRNB1	ACTA2	RRM2B	SFTPC	STAT5B	STN1	CYB5A	FAM13A	MAT2A	ATP11A	NPM1	GYG1	STAT3	SCN4A	ATP13A3	FBN1	SH2B3	LMNA	ZMPSTE24	TWNK	AK9	MYH11	POLG	ABCA3	SMAD4	SLC34A2	VCL	CHRND	MUSK	ACADM	TGFB3	MYH7	TLL1	LOX	LAMB2	SURF1	CHRNA1	MYH6	CHRNE	TGFBR1	MT-TN	NKX2-5	MFAP5	RAPSN	ACTC1	DSP	DPP9	COL13A1	HEY2	PYGM	PRKG1	SMAD2	COA8	POLG2	DOK7	RARA	EPOR	NUMA1	JAK2	BCOR	PARN	TBL1XR1	SFTPA1	ELN	EIF2AK4	ENG	GATA4	TGFBR2	NEB	SMAD3
HP_EPISODIC_TACHYPNEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISODIC_TACHYPNEA	CEP290	AHI1	KIF7	ARL3	TOPORS	ARL13B	KATNIP	INPP5E	CEP41	OFD1	CBY1	GABBR2	TMEM216	MKS1	CDKL5	CPLANE1	UQCRC2	NTNG1	SMC1A	SUFU	KIAA0753	TMEM67	TMEM237	HYLS1	TMEM218	CC2D2A	FAM149B1	FBP1	CSPP1	KIAA0586	TCTN2	CEP104	ACADVL	CEP120	TOGARAM1	MECP2	TCTN1	B9D1	PIBF1	RPGRIP1L	B9D2	ARMC9	TCTN3	PDE6D
HP_NOCTURNAL_HYPOVENTILATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NOCTURNAL_HYPOVENTILATION	FKRP	SELENON	COL6A3	HNRNPK	TTN	CFL2	COL12A1	ACTA1	MYH7	NEB	KLHL41	LMOD3	SLC52A3	PHOX2B	TPM2	COL6A2	COL6A1
HP_RESPIRATORY_FAILURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESPIRATORY_FAILURE	KLHL40	LBX1	TFG	MAP3K20	MATR3	DNAJB13	NEK1	GATA2	PDHA1	CRYAB	SFTPB	VRK1	LRP4	MEGF10	DNAAF4	TBK1	UNC13A	RSPH3	ATXN2	FUS	MEG3	RNU4ATAC	ORC1	NDUFB11	STK36	ATAD1	PPARGC1A	ALG1	LMOD3	ODAD4	PRPH	CDT1	NPC2	CFAP300	NDUFAF2	DZIP1L	SUCLG1	AGRN	TRPV4	ORC6	NDUFS4	NDUFS2	COX7B	SLC25A46	ASAH1	CCDC65	NDUFB8	HCCS	CPT2	COL6A1	OSTM1	TREM2	DAG1	IFNG	FOXJ1	NME8	GLE1	AK9	ABCA3	ORC4	PEX6	BICD2	SLC34A2	ODAD2	EXOSC8	DSP	CHRND	DNAH1	DNAH5	GFRA1	FLNA	MUSK	TMEM70	CDC6	SPAG1	POMT1	IFT81	EXOSC9	ECHS1	ERBB4	COL6A2	LARGE1	CHRNA1	GLS	POMT2	LAMA2	DNAH11	GALC	PON2	CFAP221	CFAP410	RSPH4A	SLC6A9	NEK10	ATXN1	TBCD	PSAP	HYDIN	MYL2	SARS2	NEB	CHCHD10	SPEF2	CFAP298	BCHE	MGME1	RSPH1	SMAD4	TPM2	DLK1	AHCY	HRAS	RTL1	DMD	MCIDAS	RSPH9	FKRP	KLHL41	GAS2L2	DNAAF2	LRPPRC	ANXA11	DOK7	COL6A3	GLT8D1	DNAAF5	MCM4	SLC2A10	SCO2	LTBP3	MTTP	PON3	HACD1	NEFH	SLC25A26	GMNN	GAA	VCP	TAF15	ERBB3	GTPBP3	CHMP2B	UBE3B	ZMYND10	IGHMBP2	JUP	CTSD	MYL1	NAXE	COL12A1	LRRC56	HTRA2	AGTPBP1	VAPB	LAMB3	RYR1	PFN1	GAS8	FAM20C	TSFM	DTYMK	ANG	OFD1	IFIH1	FIG4	ACTA1	DNAL1	EXOSC3	CHRNB1	CLPB	FARSB	TARDBP	IBA57	TPI1	BOLA3	DNAAF3	GMPPB	OPTN	SCN4A	SMN1	UBQLN2	SURF1	NBN	DNAAF1	NDUFAF3	ODAD3	NHLRC2	NFS1	TSC1	CCDC40	SQSTM1	SELENON	TK2	NUP188	PON1	BLM	DNAI2	DNAH9	TUFM	TTC12	CCNF	DNAAF11	MICOS13	TPM3	HADHA	DCTN1	LAMC2	RPGR	MYOT	RNF168	CHRNE	SON	DNAI1	NKX2-1	TTN	SOD1	MT-TN	PIGA	TSC2	CDC45	RAPSN	BSCL2	ITGA7	NFU1	COL13A1	DAO	HADHB	CCDC103	PTCD3	CCNO	NUTM2B-AS1	LAMA3	TSEN54	DNAAF6	SFTPC	ASCC1	C9orf72	PKHD1	PLP1	HNRNPA1	DRC1	LYRM7	CCDC39	EPHA4	ACVR1	ODAD1	INVS
HP_SUDDEN_EPISODIC_APNEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUDDEN_EPISODIC_APNEA	SYT2	CHAT	CHRNE	FARS2	SLC5A7	SLC25A20	SNAP25	SLC25A1	GABBR2	SLC39A8	COL13A1	VAMP1	CDKL5	MYO9A	MECP2	NTNG1	SMC1A	AGRN	SLC18A3
HP_HYPERVENTILATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERVENTILATION	TLK2	TCF4	MT-ATP6	CHRNB2	DEPDC5	FBP1	MT-ND2	HLCS	CNTNAP2	MT-ND4	CAMK2B	CPLANE1	KCNT1	CDKL5	GABRB3	GABBR2	GABRG2	CACNA1H	SYT1	SLC2A1	CHRNA2	CABP4	MT-TW	CHRNA4	MT-ND1	UQCRFS1	NRXN1	CRH	MT-TV	GABRA1	ARL13B	CASK	MT-TK	MT-TL1	BTD	MT-ND5	JRK	MT-ND6	MT-ND3	MECP2	CIZ1
HP_HEPATOBLASTOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATOBLASTOMA	ARID2	ARID1A	DLK1	SKIC2	IGF2	APC	GPC4	SETBP1	SMARCA4	SLC37A4	GPC3	SKIC3	SMARCC2	MEG3	SMARCB1	PKHD1	KCNQ1OT1	ARID1B	RTL1	CDKN1C	KCNQ1	DPF2	SMARCD1	SOX4	DZIP1L	SMARCE1	SOX11
HP_MEDULLOBLASTOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEDULLOBLASTOMA	MLH1	PTCH2	APC	PALB2	PTCH1	BRCA2	SUFU	DICER1	TP53	CHEK2	MDM2	GPR161	ELP1	NBN	KEAP1	CTNNB1	CDKN2A	SMARCB1	ASXL1
HP_EPENDYMOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPENDYMOMA	NF2	MLH1	ZFTA	MEN1	TSC1	TP53	CDKN2C	CDKN2A	SETBP1	IFNG	CDKN2B	RELA	CDKN1B	APC	CHEK2	IDH1	CDKN1A	MDM2	ERBB2	TSC2
HP_THYROID_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THYROID_CARCINOMA	KCNJ10	ARID2	APC	RET	SDHD	SDHB	PRKCD	FAS	SLC26A4	CHEK2	FOXE1	PRKAR1A	USF3	PTEN	NRAS	CASP10	FLCN	NKX2-1	MINPP1	HABP2	SMARCB1	SEC23B	DPF2	AKT1	CDKN1B	SOX4	FASLG	CDKN1A	SMARCE1	SOX11	ARID1A	MEN1	RASGRP1	PIK3CA	WRN	CDC73	SMARCA4	PDE11A	BMPR1A	DICER1	TP53	MDM2	SMARCC2	KEAP1	KLLN	SRGAP1	FOXI1	CDKN2C	CDKN2A	ARID1B	JAG1	GREM1	CDKN2B	SMARCD1	HRAS	TG	SDHC
HP_PITUITARY_ADENOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PITUITARY_ADENOMA	PMS1	MEN1	DNAJB11	TGFBR2	PMS2	ATRX	PRKACA	MLH1	GPR101	PKD2	USP8	PRKAR1A	AIP	CDH23	TSC2	PDE8B	BMPR1A	SEMA4A	CDKN1B	GANAB	MLH3	YY1	APC	CDKN1A	PIK3CA	TP53	PDE11A	MSH2	ARMC5	BICC1	BRAF	FAN1	NR3C1	MSH6	IFT140	IFNG	TSC1	GNAS	PKD1	EPCAM	RPS20	KRAS	USP48	IDH1	CDKN2C	ALG9	CDKN2B	IDH2	ALG5
HP_NEOPLASM_OF_THE_PANCREAS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_PANCREAS	PMS1	SPINK1	MAFA	STK11	TP53	PALB2	BRCA1	PDGFRB	NUTM1	BRCA2	KRAS	KCNJ11	APC	WRAP53	TERT	CDKN2A	CDKN1B	MGMT	CLCNKB	MSH2	FLI1	DKC1	RAD51C	NHP2	FAN1	PALLD	TERF2IP	AAGAB	NOP10	MDM2	PARN	GCGR	MSH6	MRE11	BRIP1	TINF2	CDC73	NTHL1	EPCAM	RPS20	CDKN2B	RTEL1	TYMS	ACD	MITF	VHL	MC1R	RABL3	CTRC	MEN1	TGFBR2	NOTCH3	PMS2	SMAD4	WT1	MLH1	PTEN	CHEK2	RAD51	BMPR1A	CDK4	RAD50	COL14A1	SEMA4A	MLH3	USB1	CTC1	CDKN1A	PIK3CA	CCND1	BAP1	RNF43	RAD51D	NPM1	PDE11A	BARD1	POT1	BRD4	PRKAR1A	CDKN2C	EWSR1	NBN	TERC	SLC12A3
HP_PAPILLARY_THYROID_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAPILLARY_THYROID_CARCINOMA	ARID2	ARID1A	APC	SMARCA4	PDE11A	FOXE1	PRKAR1A	NRAS	NKX2-1	SMARCC2	MINPP1	HABP2	SMARCB1	SRGAP1	SEC23B	ARID1B	JAG1	DPF2	SMARCD1	HRAS	SOX4	DICER1	SMARCE1	SOX11
HP_NEOPLASM_OF_THE_LIVER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_LIVER	PMS1	HNF4A	ZFTA	POU2AF1	KCNJ11	CTNNB1	FAH	BMP6	GCK	SETBP1	CASP8	HMBS	PALB2	BRCA1	SPRTN	GPC4	FAS	WT1	APC	BRCA2	SKIC3	STAT6	PHKA2	TJP2	MEG3	SMARCB1	SLC25A13	PIK3CA	HFE	KRAS	CDKN1C	TP53	IGF2	INPP5E	APPL1	SOX4	SLC37A4	SERPINA1	JAK2	DZIP1L	NEUROD1	DLK1	KLF11	SKIC2	H19	SPIB	RASGRP1	MSH2	MSH6	SMPD1	GNAS	SMARCA4	GPC3	FAN1	PALLD	F5	INS	ATP7B	TCF4	SLC2A2	TRIM28	PAX4	EPCAM	RPS20	IRF5	PPOX	ARID1B	JAG1	PDX1	BMP2	HBB	CREBBP	ABCB11	ARID2	GIMAP5	BTK	BLK	GPR35	HNF1A	EP300	TGFBR2	MST1	PMS2	SMAD4	RPGRIP1L	MLH1	PRKCD	MMEL1	NAB2	CEL	DIS3L2	CDKN2A	CASP10	CPOX	ABCB4	BMPR1A	MET	SEMA4A	RTL1	G6PC1	DPF2	RELA	MPV17	MLH3	AHCY	IL12RB1	FASLG	POU6F2	SMARCE1	SOX11	RABL3	ARID1A	PHKG2	SEMA4D	UROD	AXIN1	PDE11A	TNPO3	CCND1	PHKB	PDGFRL	IL12A	TRIP13	PYGL	PRKAR1A	SMARCC2	VHL	ABCC8	PKHD1	IGF2R	KCNQ1OT1	TNFSF15	CC2D2A	TMEM67	KCNQ1	SMARCD1	REST	TULP3
HP_PARATHYROID_ADENOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARATHYROID_ADENOMA	RET	GCM2	CDC73	FLCN	MEN1	TSC2	CLCNKB	IFNG	TSC1	IDH1	CASR	NF1	CDKN1B	IDH2	SLC12A3
HP_EMBRYONAL_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMBRYONAL_NEOPLASM	SPRED1	FIBP	DMRT3	TP53	GPC4	BUB3	SETBP1	TRIP13	EXT2	CEP57	KIT	WT1	APC	PIK3CA	NR5A1	SLC22A18	SKIC3	MEG3	SMARCB1	ZFPM2	NR0B1	SETD2	MSH3	REST	CDKN1C	IGF2	POU6F2	FGFR3	SOX4	VAMP7	DZIP1L	ASXL1	DHX37	H19	MNX1	PAX6	DLK1	SKIC2	PHF21A	GATA4	NSD1	RB1	SMARCA4	BCL10	GPC3	SRY	BUB1B	HDAC4	WWOX	CDC73	TRIM28	DICER1	DIS3L2	ARID1B	BLM	MAP3K1	ARID2	BRCA2	PALB2	STK11	RTL1	DPF2	SMARCE1	SOX11	APC2	ARID1A	TRIM37	PTCH1	PDE11A	BMPER	KCNQ1OT1	CHEK2	SLC37A4	ALX4	PRKAR1A	SMARCC2	PKHD1	SOX9	KCNQ1	HRAS	SMARCD1	BUB1
HP_HYPOKALEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOKALEMIA	SLC4A1	NR3C1	CYP11B1	CACNA1S	NUP214	KCNJ10	SCNN1B	ZNRF3	COL3A1	SLC12A3	PRKAR1A	CLCNKB	CAV3	CALM2	TERT	GATM	SCNN1G	BMPR1A	SLC2A2	MAGED2	CLCNKA	CTNS	CYP11B2	NOS1AP	SCN10A	INSR	KCNJ5	KCNJ18	TP53	BSND	KCNE3	SCNN1A	KCNJ1	CALM3	ATP6V0A4	SLC34A1	UNC45A	CTNNB1	KCNJ2	KCNQ1	HSD11B2	SCN4A	KCNE1	NDUFAF6	CACNA1D	SLC4A4	CALM1	CLDN10	DEF6	KCNE2	CDKN2A	FXYD2	SLC12A1	CASR	SCN4B	AKAP9	GEMIN4	ANK2	OCRL	SNTA1	ATP1A1	CACNA1C	EHHADH	TBX5	TRDN	CLCN2	SERPINA6	SMAD4	CDH23	CYP17A1	AIP	USP8	SCN5A	SLC26A3	KCNH2	GABRA3	PKD2
HP_HYPOCALCEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOCALCEMIA	FOXP3	VDR	GNAS-AS1	GNAS	CYP3A4	ESS2	CYP27B1	IFT122	DGCR2	TNFSF11	PPM1B	STX16	USP53	GCM2	GNB2	HIRA	BTK	CSF1R	CCBE1	ADAMTS3	MT-CO3	FAT4	TCIRG1	GNA11	TBX1	PREPL	FARSB	FAM111A	CLCNKB	CASR	GP1BB	ARVCF	DGCR8	FOCAD	LPIN1	RREB1	OSTM1	PTH	CLCN7	CAMKMT	TBCE	DGCR6	PDE4D	CACNA1C	GATA3	TNFRSF11A	ACADVL	COMT	RMRP	HLA-DQA1	ALG12	HLA-DQB1	SLC3A1	SEC24C	SLC4A1	CAV1	SNX10	PRKAR1A	CTNS	UBR1	GEMIN4	HADHB	PLVAP	CHD7	JMJD1C	HADHA	CYP2R1	PIK3C2A	ORAI1	RYR1	FGF23	CA2	TRPM6	UFD1	MT-CO1	SLC12A3
HP_HYPERPHOSPHATEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPHOSPHATEMIA	STX16	GNAS-AS1	FAM111A	GNAS	CASR	GCM2	CACNA1S	LPIN1	RYR1	KL	TNFRSF11B	PRKAR1A	PTH	TBCE	PGAP2	PDE4D	MT-CO3	GALNT3	GNA11	MT-CO1
HP_MICROSCOPIC_HEMATURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROSCOPIC_HEMATURIA	PAX2	COL4A5	F2	ADAMTS13	NUP85	AMMECR1	FN1	PBX1	SMARCAL1	CUBN	NOS1AP	COL4A3	LPIN2	KCNE5	LMNB2	CLCN5	CTNS	ACSL4	SLC37A4	INF2	LMX1B
HP_CONJUGATED_HYPERBILIRUBINEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONJUGATED_HYPERBILIRUBINEMIA	ABCB11	NR1H4	POU2AF1	SPIB	SLCO1B3	ABCC2	SLC2A1	GLRX5	VPS33B	TNPO3	MMEL1	AKR1D1	KIF12	VIPAS39	IL12A	SLCO1B1	MYO5B	TTC26	ATP8B1	IRF5	BAAT	TNFSF15	SLC51A	IL12RB1	PKHD1	SLC17A5
HP_GENERALIZED_AMINOACIDURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_AMINOACIDURIA	ETFA	SLC2A2	GATM	DGUOK	SLC34A1	NDUFAF6	CYP27B1	FAH	ETFB	EHHADH	NGLY1	ETFDH	CYP2R1	CTNS
HP_ELEVATED_HEPATIC_TRANSAMINASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_HEPATIC_TRANSAMINASE	FOXP3	COX5A	FBXL4	ACAD9	BRCA1	USP53	SERPINA1	LIPA	SAR1B	CPT2	JAK2	RNASEH2A	PRF1	RNASEH2C	TMEM67	DOCK2	SLC25A20	TRMT10C	CFH	SLC51A	AKR1D1	TP53	SUCLG1	CCDC115	SLC25A15	RRM2B	DPM2	STEAP3	HMGCL	UQCRC2	SCO1	ALG6	COX16	ATP7B	ERCC4	PEX16	NFKB1	CEACAM6	RINT1	POLG	DPM1	HNF1B	CFAP418	RNASEH2B	HLA-DQB1	CPT1A	ALMS1	ABCB4	MTX2	CALR	HSD17B4	LBR	SLC25A13	SLC30A10	ACADM	VIPAS39	DHDDS	RAG1	XK	GCLC	ERCC8	FBP1	SRD5A3	IKZF1	VPS33B	KIAA0586	ABHD5	POLG2	RNU7-1	ATP8B1	CSPP1	ALDOB	HFE	EDNRA	FARSA	AP1B1	SLC11A1	MARS1	MTTP	LARS1	GALT	SLC37A4	ASL	CC2D2A	CD19	ERCC6	ATRX	MIF	TMEM165	CAVIN1	SRP54	VPS50	TFR2	NR1H4	SLC25A4	TANGO2	F5	COG2	SPTBN1	NGLY1	FAH	MPV17	BRCA2	PDE8B	TYMP	KRAS	KCNN4	ALG11	PKHD1	ALG12	CLPB	OFD1	PRKAR1A	FARSB	SBDS	MRPL44	COG4	LIG3	TREX1	LPIN1	PNPLA2	TCF4	SLC26A9	SP110	LSM11	PPOX	SLC6A14	SLC7A7	COG7	MRPL3	MTM1	ACOX2	BMP2	HLA-DQA1	GIMAP5	OCRL	AMACR	GNE	ATP6AP1	DGUOK	LHX1	BCAT2	IL18BP	RPGRIP1L	MICU1	WRN	DAXX	SLC22A5	MLIP	HAMP	EFL1	G6PC1	CBS	SDHD	PHKG2	MRPS2	LYST	TGFB1	YARS2	TRAPPC11	TWNK	FAN1	ACOX1	CEACAM3	ALG8	STX1A	PRKCD	COG8	FADD	EIF2AK3	PCK1	UNC13D	CYC1	HMOX1	IARS1	COG5	MYO5B	IRF2BP2	RACGAP1	HJV	PHKA2	DPM3	MT-CO3	SLC9A3	ATP6AP2	TKFC	INPP5E	CAV3	GNMT	MYH9	APOE	CLCA4	POLD1	RAG2	OCLN	PMM2	PEX19	PSMB9	STXBP2	HADH	TFAM	ADK	BCS1L	DMD	JAG1	ACADVL	OTC	DPAGT1	VPS13A	ABCB11	MRPS28	GPR35	HSD3B7	HLA-B	PSMB8	ICOS	CDKN2A	KIF23	DCTN4	MRPS16	AHCY	RBCK1	PYGL	RABL3	DLD	CD46	CFI	CYP7B1	MED12	NOS3	LYRM4	SEMA7A	GAA	CR2	MOGS	BICRA	AGL	TNFRSF13B	ASAH1	HMGCS2	TULP3	ATM	PEPD	PALB2	DCDC2	B4GALT1	C1QBP	IER3IP1	STAT2	BSCL2	RNF220	DDOST	IFT172	SLC35A2	FLT1	TMEM199	DOLK	PDE11A	ALDOA	FOCAD	NSMCE2	HNF4A	ALAS2	PALLD	HELLPAR	KIF12	PRIM1	DNAJC21	COG6	SLC2A2	NFS1	STX11	LIPT1	GSTM3	LDHA	CORIN	NFKB2	MST1	GLRX5	AGPAT2	MICOS13	SMAD4	HADHA	PRKACA	ABCD3	MVK	TNFRSF13C	TTC26	PSMB4	IFIH1	DEF6	APOB	ZNFX1	ADA2	SAMHD1	MS4A1	ADAR	WDR35	STOX1	CD81	PEX13	GPD1	SMPD1	SEMA4D	CFTR	TNFSF12	GDF2	GYS2	PGM1	PHKB	OTUD5	USP18	ACSF3	BAAT	TRMU	HADHB	SLC51B	DNAJC19	SC5D	NBAS	MT-CO1
HP_METHYLMALONIC_ACIDEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METHYLMALONIC_ACIDEMIA	MMACHC	MMAB	MMAA	SUCLA2	LMBRD1	ABCD4	ACSF3	HCFC1	MMUT	PRDX1	MMADHC	CD320	ALDH6A1	SUCLG1
HP_MYOGLOBINURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOGLOBINURIA	FKRP	LDHA	PHKG2	ALDOA	PYGM	SGCB	TANGO2	PGK1	PFKM	HADHA	LPIN1	CPT2	PHKB	CACNA1S	ANO5	RYR1	ISCU	COQ2	PHKA2	HADH	DMD	MT-CO3	HADHB	ACADVL	PHKA1	PGAM2	MT-CO1	CRPPA
HP_HYPERCHLORIDURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERCHLORIDURIA	SLC12A1	KCNJ1	BSND	CLCNKB	CLCNKA
HP_ABNORMALITY_OF_CHROMOSOME_SEGREGATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CHROMOSOME_SEGREGATION	SHH	ESCO2	MECP2	GJA1	LBR	SEC23B	BUB1B	RAI1	NKX2-5	TSC1	CDAN1	TRIP13
HP_HYPERMAGNESEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERMAGNESEMIA	AP2S1	ALDOB	CLCNKB	GNA11	CLDN10	CASR	SLC12A3
HP_KETONURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KETONURIA	OXCT1	CYC1	INS	MMACHC	COX14	TANGO2	KCNJ11	SLC25A13	ABCC8	SUGCT	HMGCL	STAT3	LETM1	GYS2	MCEE	COX16	MCCC2	MMAB	MMAA	ACAT1	GCDH	CA5A	SLC16A1	PDX1	MCCC1	GCK	SDHD	PCK1
HP_DECREASED_CIRCULATING_ACTH_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_ACTH_LEVEL	PRKAR1A	PDE11A	NF2	SMARCE1	LHX3	HESX1	CDH23	ARMC5	POU1F1	PROP1	OTX2	MEN1	BAP1	PRKACA	SMO	TRAF7	SUFU	LHX4	AIP	PIK3CA	TERT	SMARCB1	GLI2	AKT1	PDE8B	GNAS	FOXA2	SOX3	PDGFB	NFKB2
HP_ABNORMAL_CEREBROSPINAL_FLUID_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CEREBROSPINAL_FLUID_MORPHOLOGY	MT-ND4	ARSB	ZIC2	NDUFA9	TRNT1	IFT43	PLCH1	PDHA1	FUZ	RPGRIP1	GPC4	MFN2	SLC2A1	TGIF1	HYLS1	CPT2	B9D2	RSPH3	RNASEH2C	B3GALNT2	MT-ND1	NODAL	NDUFB11	ADAR	NDUFS7	PRKAR1A	FKRP	TCIRG1	SIX3	CYP26C1	SLC25A4	NDUFA13	SEC24D	GP1BB	SLC39A8	COX15	ZIC3	DOCK6	TMEM237	DLL1	NDUFA2	SKI	RAD51	CSPP1	DAG1	PALB2	RNASEH2B	DNAH1	NRCAM	POLR3A	BRCA2	LMNB1	NOTCH1	FGFR3	DNAI1	GALC	TMEM218	CFAP221	POMT2	MKS1	GMPPB	CC2D2A	NDUFA1	MT-ND6	LARGE1	ABHD5	POMGNT1	MT-ATP6	GLI2	PRX	MCIDAS	HLA-DQB1	MAD2L2	GAS2L2	FGF8	NDUFV2	COL4A1	KIF1A	CDON	PET117	SUFU	POMGNT2	BRIP1	EBP	DHCR24	ERCC3	POMT1	P4HB	COPB2	MAN2B1	CRPPA	FTO	IGKC	DNMT1	DLAT	LETM1	NDUFS4	MT-ND5	FGFR1	NUP214	TNFSF11	NGLY1	PAK2	KDM6A	ARSA	ATP1A2	OFD1	SMARCB1	TSEN15	COX20	TCTN3	KMT2D	RANBP2	PNPT1	CRB2	SALL1	SAMD9	COX10	RRM2B	TBK1	MADD	ZNF423	SLC19A3	RBPJ	ZBTB24	KIAA0586	POLG	SURF1	WNT3	DNAAF1	TPK1	LSM11	NR4A2	NDUFS8	TNFRSF11A	ALDH4A1	VAC14	NDUFS1	HBA2	DCC	DARS2	CCDC22	BCAT2	SEC24C	NOTCH2	RPGRIP1L	MICU1	RPGR	CCDC88C	FOXH1	SLC25A19	VANGL1	L1CAM	MTRR	FKTN	GBA1	SHH	TCTN2	ERCC6	MT-TF	CCDC103	CCNO	NDUFAF3	PRDX1	TGFBR2	PTDSS1	OGDH	VANGL2	DISP1	TRPV4	LYRM7	CCDC39	PNPO	FANCC	IRF3	GBE1	NDUFA8	UNC13D	ASPA	TRIM71	KATNIP	DNAJB13	TYROBP	STIL	MMACHC	GCDH	SHOC2	NF1	TBXT	CSF1R	EGR2	FGFR2	PLG	CTBP1	INPP5E	ATPAF2	DPH1	TBX1	ARMC9	AIFM1	MT-TH	FGFRL1	HCCS	PAK3	OSTM1	PIK3CA	IRF4	ERCC4	FTL	ADK	IFNG	FOXJ1	EML1	NME8	FANCL	PDGFB	PRKAG2	MAP2K2	ODAD2	LMBR1	FLNA	PPP1CB	TICAM1	GFAP	PPP1R21	NOTCH2NLC	ECHS1	IDS	CLIC2	FAM20C	PTCH2	DNAH11	RSPH4A	FOXRED1	NEK10	PIGV	BRAF	HYDIN	FAM111A	SPEF2	TMEM216	GFM1	RECQL4	CPLANE1	DLD	MUSK	IFT172	DNAAF2	KIF7	PIK3R2	FANCI	LYRM4	ALG13	TAOK1	NDUFB9	B9D1	POMK	CACNA1A	BICRA	TMEM67	TMEM231	XRCC2	TIMM50	NDUFB3	TAF2	NDUFS2	NSUN2	MPZ	NAXE	B4GALT1	LIPT1	RNASEH2A	PRNP	NDUFAF8	NDUFAF5	TERT	HIRA	STAT2	SLC29A3	HSD17B10	VPS33A	MT-CO1	TSC1	CEBPE	MT-ND3	TOGARAM1	HDAC6	PSAP	TMEM222	PPP2R1A	POR	CFAP43	WASHC5	AKT3	ARVCF	AP1S2	NUBPL	FANCF	TDGF1	TRMT1	NFIX	FARS2	STX11	SMO	MT-TK	CEP104	SLC25A24	ALDH7A1	MT-ND2	NPHP1	LONP1	DNAH9	AHI1	GRIK2	COX14	NDUFS3	DNAAF11	TMEM138	FANCM	PTEN	NRAS	TP53	CCND2	GAS1	TTC26	MT-TW	MT-TN	PYCR1	HPDL	TTR	TBCK	SAMHD1	GPC3	CD59	PPP2R5D	PIGU	PDHX	ERCC2	TSPOAP1	IDUA	JMJD1C	B3GAT3	FANCE	RNU4ATAC	TK2	PTCH1	MAP2K1	PMP22	FANCG	MT-CO3	PORCN	BTNL2	ODAD1	RSPO2	RASA1	EOGT	SMARCE1	NDUFB10	IARS2	FANCB	AASS	HSPG2	UBE2T	HNRNPU	PRF1	B4GAT1	TRMT10C	KRAS	COQ8A	STK36	NARS2	TSC2	CFAP300	FLVCR2	SUCLG1	COX6B1	MT-TL1	CBY1	PSAT1	CCDC65	GLI3	NDUFB8	TET3	LIG4	MED12	RREB1	ALDH5A1	TCTN1	NDUFA12	DNAH5	CEP290	GFM2	NDUFAF2	SPAG1	BAP1	TRAPPC12	CTNNB1	RMND1	NDUFA11	RAD51C	HRAS	NF2	NDUFA10	MECP2	CEP41	GPSM2	COA8	LRPPRC	FANCA	PHYH	DNAAF5	SCO2	MT-TS2	IMPDH2	WDR81	EPHB4	NEU1	RFWD3	ZNHIT3	MT-TQ	MT-CYB	RXYLT1	NDUFA4	SOX9	ERF	CPLX1	KDM4B	ZBTB20	SPTBN1	GLYCTK	FBN1	MPV17	GAS8	NDUFV1	TYMP	ERCC8	NSD2	CLPB	CDCA7	BRCA1	TMEM126B	ARHGAP31	LIG3	CENPF	CEP120	CCL2	TBX15	CLCN7	TRAF3	MYT1L	ODAD3	UQCC2	TOE1	B3GLCT	MT-TV	HELLS	NDUFAF1	UNC45A	COMT	DNAI2	MTM1	PET100	LAMB1	TTC12	TRAF7	SNX10	COX7B	B3GALT6	MDH2	SMC1A	RNF125	NFU1	COX8A	NDUFS6	GNAQ	NDUFA6	GUSB	CEP83	ZPR1	DNAAF6	NDUFAF4	CILK1	TH	AMER1	UNC93B1	TGFBR1	TXN2	TREM2	LMNB2	CLCN3	MPDZ	TXNDC15	DNAAF4	FANCD2	RNU7-1	MC1R	TMEM107	ODAD4	DLL4	PIBF1	SLC12A2	SDHA	SIK3	SUMF1	OCLN	H4C9	HLA-DRB1	PEX19	STXBP2	MTFMT	GLUL	RARS2	ERCC5	NOTCH3	DHCR7	AKT1	CFAP298	TREX1	MBTPS2	RSPH1	DDC	PRRT2	ARL13B	RSPH9	BLTP1	TUBB3	NKX3-2	MAF	SLC17A5	ZMYND10	ESCO2	SLC12A6	CDC42BPB	LRRC56	HTRA2	FIG4	COL18A1	DENND5A	TLR3	KARS1	DNAL1	STAG2	TACO1	TIMMDC1	RAC3	SLC6A3	PEX7	CHST3	BOLA3	DNAAF3	DNM1L	DNMT3B	CDC40	SF3B2	COG6	HERC1	GCH1	CCDC40	SF3B4	USP7	PIEZO2	SMOC1	ARL3	FRAS1	NDUFAF6	SLX4	KANSL1	MT-CO2	RPIA	HBA1	IFIH1	IGHG2	MRPS34	SLC13A5	COX4I1	SLC13A3	SOX2	VSX1	DRC1	UFD1	BUB1B	MTHFR	SCN1A	ROGDI
HP_RHEUMATOID_FACTOR_POSITIVE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RHEUMATOID_FACTOR_POSITIVE	CASP10	RIPK1	FAS	CYBC1	RASGRP1	PGM3	CIITA	PTPN22	FASLG	STING1	PRKCD	IL10	NFKBIL1	IFNGR1	CARD10	CD244	SLC22A4
HP_ELEVATED_CIRCULATING_THYROID_STIMULATING_HORMONE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CIRCULATING_THYROID_STIMULATING_HORMONE_CONCENTRATION	TPO	ALMS1	SLC16A2	THRB	IYD	PAX8	DUOX2	SECISBP2	PSMB8	PDGFRB	GNAS	NKX2-1	MRPS7	TG	SLC35A2	SLC5A5	CDH23	PMM2	PRKAR1A	DCAF17	DUOXA2	SMARCAL1	TSHR
HP_ABNORMALITY_OF_THYROID_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THYROID_PHYSIOLOGY	MDM4	FOXP3	MT-ND4	WDR4	CACNA1S	SMARCE1	ZIC2	VPS37D	POU1F1	NKX2-1	TREX1	PLCH1	DEAF1	ZBTB20	ZFP57	TSHR	TGIF1	CASZ1	IPO8	RNASEH2C	DUOXA2	BMP4	NODAL	RMRP	SETD2	HFE	FMR1	PRKAR1A	ENPP1	IFIH1	SIX3	CTNS	MAGEL2	RRM2B	POMC	HSPG2	STEAP3	GLI3	GP1BB	GNAS	MT-TL1	DISP1	TF	IYD	SMO	LHX4	GPR161	RREB1	TPO	AIP	DLL1	SPOP	HYMAI	KISS1R	GAS1	DCAF17	MT-TN	POLG	TMEM67	KCNJ2	HNF1B	NIN	STIL	SHH	RNASEH2B	FOXI1	POLR3A	KCNJ10	MLXIPL	FOXH1	ALMS1	CDH23	FGF8	LRBA	NKX2-5	TRIP13	PIEZO1	ABCC6	YY1	FDX2	BAP1	LEPR	CTNNB1	TBX1	PRDM16	TXNRD2	GATA6	FKBP6	SLC26A4	FLII	HNRNPK	RNU7-1	APC2	MT-ND6	NF2	LHX3	PDPN	SMARCAL1	SLC37A4	CHD7	FOXP1	FARSA	ACP5	HBB	RAI1	GNB1	CDON	MARS1	HSD17B3	GLI2	MTTP	SAA1	MT-TS2	ATP6V1B2	IMPDH2	CLIP2	NNT	SRD5A3	XRCC4	NDN	MT-TQ	PTEN	SRY	SVBP	GNA11	MT-ND5	FGFR1	EXOSC2	NPHS1	BUB3	SLC25A4	TANGO2	BMP6	DNAH1	PAX8	EXT2	SLC16A2	GABRD	ADA	SKIC3	SMARCB1	NR1H4	HID1	UBR7	TG	KMT2D	HESX1	MRAP	SALL1	FOXE1	CLPB	CLCNKB	MADD	NSD1	PROP1	KCNJ18	INSR	DDB1	THRB	FANCI	ADAMTSL1	RAG1	PTRH2	STAR	LSM11	NR4A2	SLC6A17	MMP23B	TRMT10A	COMT	POLR3GL	BAZ1B	AFF4	OCA2	ELN	MPI	RBM28	SNRPN	FUT8	SEC24C	OTX2	MOGS	TRAF7	EIF4H	SECISBP2	DNM1L	FGF13	SUGCT	SMC1A	MT-TF	AIRE	KLF1	PLVAP	IGF2	JAK1	MC2R	THRA	DUOX2	PCSK1	LEP	STUB1	FLCN	GRM7	FOXA2	SIM1	TRAPPC9	DACT1	BUB1	EIF2AK3	ARNT2	TSC2	SLC12A3	LIG4	ADAT3	ADCY5	ITCH	RPL10	TSC1	ABCC8	TSHB	STAT1	HMGA2	SUFU	WDR11	SOX3	IL7R	PTCH1	SPEN	KDM6A	MSTO1	METTL27	DMXL2	TDGF1	PLAGL1	SKI	WFS1	TRHR	PHF21A	SCN4A	MT-TH	KATNIP	TONSL	GTF2IRD1	BUB1B	HLA-DRB1	PMM2	CEP57	IRF4	TWNK	GLIS3	CACNA1C	PDGFB	IL2RG	GRIN2B	TIAM1	SLC5A5	ABCB11	CPE	BCL7B	GRIA1	NCF1	PPP1R15B	IQSEC2	LUZP1	AKT1	UBR1	BRAF	DYRK1A	RFC2	KAT6B	TBL2	GATA1	TBL1X	MCM8	GTF2I	KCNAB2	YRDC	PLAA	BICRA	ROBO1	STX1A	HPD	LIFR	PIK3CA	DNAJC30	TBC1D24	RERE	B4GALT1	SGPL1	C1QBP	RNASEH2A	TERT	HIRA	KARS1	PLAG1	DDOST	STAG2	MT-CO1	PRKCZ	SETBP1	IRS4	PROKR2	SKIC2	ANAPC1	MT-TL2	RAG2	ARVCF	APOE	FOCAD	IFNG	ALG2	PRIM1	CDKN1B	ASH1L	LRP4	GCH1	BUD23	IL6ST	GNE	POU3F4	PDE4D	NEXMIF	TRH	ARL6IP6	CDKN1C	MEN1	CYP27A1	DIO1	DCLRE1C	KANSL1	MT-CO2	UBE4B	KMT2B	STAT3	BCOR	SASH3	ALG8	B3GLCT	KCNJ11	GTF2IRD2	LIMK1	USP9X	OPA1	ATP11A	SAMHD1	ADAR	TOM1	TMEM270	IGSF1	IL2RA	ABCB4	ATP8B1	JMJD1C	POLG2	ALX4	PIK3C2A	APC	MT-CO3	MT-TW	BTNL2	DNAJC19	TBCK	UFD1	GABRA3	FUCA1	MT-ND1
HP_DECREASED_ACTIVITY_OF_THE_PYRUVATE_DEHYDROGENASE_COMPLEX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_ACTIVITY_OF_THE_PYRUVATE_DEHYDROGENASE_COMPLEX	PET100	PDHX	GLRX5	NDUFV2	NDUFAF2	NDUFS2	NDUFA10	NDUFA13	SDHA	NDUFA9	PDHB	ECHS1	SLC39A8	SLC19A3	NDUFS1	BOLA3	PDHA1	NDUFAF6	COX15	LIPT1	PDP1	SURF1	NDUFS4	FOXRED1	NDUFA2	NDUFAF5	NDUFS8	NDUFS3	DLAT	NDUFS7	TACO1	NDUFA12	NDUFV1	MTFMT	NDUFA4
HP_DISTAL_SENSORY_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_SENSORY_IMPAIRMENT	COA7	IGHMBP2	SPG11	TFG	SOX10	POLG	IARS2	ATL3	MED25	GBE1	MATR3	BSCL2	HSPB1	GDAP1	MFN2	SAMD9L	KIF5A	MPZ	MPV17	SPTLC2	GAN	GBF1	NDRG1	AASS	AARS1	FBLN5	REEP1	CAV1	POLR3A	LMNA	KLHL9	EGR2	NEFL	MORC2	ABCD1	GNB4	PMP2	MSTO1	PNKP	PMP22	MME	ATP7A	NEFH	SPTLC1	MTRFR	PLEKHG5	PNPT1	YARS1	BAG3	MYH14	PRX	SACS	HARS1	SLC25A46	POLR3B	ATP13A2	DDHD1	RAB7A	RAI1	DHH	GARS1	PEX10	SBF2	GJC2	TWNK	ATXN10	INF2	MTMR2	HSPB8	ATXN1	SERPINI1	ALDH4A1	SYT2	CCT5	DCAF8	DARS2	FIG4	KIF1A	SETX	DYNC1H1	APTX	C19orf12	PRPS1	CADM3	MARS1	FGD4	SBF1	DNM2	IBA57	SLC25A19	NAGA	NTRK1	SH3TC2	TYMP	AIFM1	NAGLU	ADA2	TRPV4	TDP1	SCYL1	VCP	CAPN1	JPH1	LITAF	PDK3	PIK3R5	HK1	ATL1	RASA1	HINT1	ABHD12	TK2	MTTP	LMNB1	MCM3AP	COX6A1	KIF1B	DNAJB2	CHCHD10	LRSAM1	CYP7B1	GJB1	KARS1	XRCC1
HP_HEMIVERTEBRAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMIVERTEBRAE	CCDC22	MYH3	EIF5A	FGFR1	FANCB	TBC1D24	PTCH2	DVL1	H3-3B	SEMA3E	TBX2	IKBKG	LRP4	TMCO1	ATRX	SON	SIX6	KDM6A	KMT2D	KYNU	PUF60	CHD7	GLI3	HES7	PTCH1	CAPN15	STAG2	MEG3	WASHC5	RTL1	MBTPS2	MESP2	DVL3	MBD5	FZD2	DLL3	DLK1	CDK10	MADD	WNT5A	SOX2	ORC1	SUFU	TMEM251	SF3B2	ATP6V1B2	EBP	B3GLCT	TBX6	RAD21	JAG1	WNT7A	RIPPLY2	POR	ROR2	PAICS
HP_LUMBAR_HYPERLORDOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LUMBAR_HYPERLORDOSIS	MYPN	PCGF2	ITCH	ARSB	POMT1	MATN3	CFL2	GFPT1	ABCC9	ALG2	ACTA1	ACAN	SHOX	TMEM63C	VPS33A	NAA10	FKRP	TPM2	EXTL3	TRPV4	FUCA1	SGCG	SLC26A2	LIPE	MFN2	TOGARAM1	FGFR3	HACE1	TONSL	ALX3	COL11A2	FN1	RYR1	DMD	LTBP1	CHST3	SYT1	MED12	ASH1L	COL10A1	DAG1	HERC1	RMRP	SETBP1	COL6A3	VCP	VPS13B	DYM	IHH	COL12A1	POLR3GL	DPAGT1	ADAMTS10	KY	GMPPB	COMP	RAB3GAP2	SATB2	DDRGK1	CLCF1	TPM3	BGN	POMK	OBSL1	PIEZO2	MYH7	AP1G1	SON	PRG4	BCOR	LMX1B	XYLT1	RERE	COL6A2	GARS1	NPR2	MYBPC1	COL2A1	HSPG2	POMGNT1	SMARCAL1	PRKG2	SOX5	ACP5	TRAPPC2	ALG14	POMT2	COL6A1	PLEC	SELENON	FBN1	NSDHL
HP_THORACIC_KYPHOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACIC_KYPHOSIS	EXTL3	ERCC3	FLNB	ERCC2	MGAT2	RNF113A	CYP27A1	PHF8	MAN2B1	AIFM1	AP1G1	RMRP	ANKRD11	MPLKIP	CCN6	POP1	VPS33A	FBXO28	TRPV4	GNPTAB	NPR2	COL2A1	ALDH3A2	GTF2E2	LBR	GLB1	TARS1	FGFR3	NEPRO	GUSB	CDH11	TRAPPC2	DMD	PUF60	TONSL	TMEM231	WDR81	PIK3C2A	RYR1	NARS1	CARS1	NFIX	XYLT2	KIF22	SLC26A2	SRD5A3	AMER1	GTF2H5	DYM	LHX3	PRKG2	GBA1	SMARCAL1	MED12L	KY
HP_THORACIC_SCOLIOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACIC_SCOLIOSIS	RAB3GAP2	PYCR2	SGCA	SOX9	MYPN	TBX5	PCGF2	ITCH	MYH7	ALMS1	COL2A1	RBBP8	RAB5IF	ERLIN1	MOGS	CHRNA1	SPRTN	DES	LRP4	CHRNE	HINT1	LMNA	GDF3	CHRND	TPM2	AEBP1	PLOD1	RAPSN	COL13A1	AGRN	CHRNB1	TUBB3	PUF60	PEX5	PRKG2	SOX5	PIK3R2	DOK7	DMD	SCN4A	NEK9	GNS	ZMPSTE24	IARS2	WDR81	NFIX	NKX3-2	VPS13B	AK9	TPM3	MTRFR	MUSK
HP_THORACOLUMBAR_SCOLIOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACOLUMBAR_SCOLIOSIS	IGBP1	HYAL1	TBC1D24	MGAT2	NEPRO	ALMS1	CLCF1	RPL10	CDH11	RSPRY1	CHRNG	MED12	PIEZO2	PAPSS2	AP1G1	COL1A2	ASH1L	GNB2	ATP6V1B2	CCN6	POP1	GLIS3	IDH1	USP9X	SLC26A2	IL6ST	LONP1	ATG7	GNPTAB	ROBO3	MAPK8IP3	COL2A1	COL6A2	LHX3	PDGFRB	NIN	ROR2	MYO18B	LBR
HP_INTERVERTEBRAL_SPACE_NARROWING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERVERTEBRAL_SPACE_NARROWING	MT-TL1	RRM2B	TRAPPC2	COL2A1	FN1	MT-ATP8	LTBP3	CHST3
HP_SUPERNUMERARY_VERTEBRAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPERNUMERARY_VERTEBRAE	GDF11	GPC4	PAX3	GPC3	DHODH
HP_CERVICAL_KYPHOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVICAL_KYPHOSIS	FLNB	SOX9	CHST14	SLC26A2	GZF1	ARSL	RIPPLY2	DSE	HSPG2
HP_VERTEBRAL_FUSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERTEBRAL_FUSION	MYH3	FLNA	VANGL1	PTCH2	FUZ	FKRP	WNT4	LETM1	ASXL2	ABCC6	COL2A1	CPLX1	NADSYN1	NOTCH3	GPC4	NOG	CHRNG	SIX6	CHN1	FGFR2	GDF6	PUF60	HGD	FLNB	ANKRD11	MEOX1	HES7	PTCH1	GDF3	MAP3K7	SALL4	CTBP1	SMAD4	MESP2	NSD2	RAD51	DLL3	MYO18B	TMCO1	RBM8A	BMPER	CHRNA1	GDF5	SOX2	FGFRL1	IL1RN	SOX5	DCC	FGD1	SUFU	CDH11	ZIC3	FN1	GPC3	AFF4	FANCI	SF3B2	ASH1L	NTN1	DKK1	DNAL4	CHD4	AEBP1	TBX6	KANSL1	MAFB	ACVR1	ENPP1	WBP11	CHRND	ROR2
HP_FUSED_CERVICAL_VERTEBRAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FUSED_CERVICAL_VERTEBRAE	MEOX1	RBM8A	FGFR2	ASXL2	ABCC6	COL2A1	NOG	CHRNG	IL1RN	DCC	CDH11	GDF6	AFF4	PUF60	FANCI	FLNA	ASH1L	NTN1	DKK1	DNAL4	GDF3	MAP3K7	CHD4	AEBP1	FLNB	SALL4	ACVR1	MYH3	ENPP1	WBP11	RAD51	MYO18B
HP_PARTIAL_ABSENCE_OF_CEREBELLAR_VERMIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARTIAL_ABSENCE_OF_CEREBELLAR_VERMIS	OPHN1	PACS1	PIGN	PLCH1	POMT2
HP_VERTEBRAL_COMPRESSION_FRACTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERTEBRAL_COMPRESSION_FRACTURE	TP53	CCND1	SPARC	DDRGK1	WNT3A	SERPINF1	BRAF	ATRX	GORAB	P3H1	MMP2	USP8	TENT5A	GBA1	UROS	NR3C1	XYLT2	PYCR1	CREB3L1	MESD	CDH23	SCARB2	DNAJC21	FKBP10	LRP5	CRTAP	USP48	DKK1	TNFRSF11A	WNT1	SMS	AIP	SERPINH1	EFL1	SRP54	P4HB	NOTCH2	SBDS
HP_GRANULOMATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GRANULOMATOSIS	HLA-DPA1	PRTN3	CYBA	ASAH1	CYBB	CTLA4	NCF1	HLA-DPB1	PTPN22	NCF2
HP_IMMUNE_DYSREGULATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMMUNE_DYSREGULATION	TOM1	UNC13D	ACP5	STXBP2	STAT1	STX11	FOXP3	PLCG2	LEPR	LAT	PRF1
HP_AUTOIMMUNITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AUTOIMMUNITY	FOXP3	DNASE1L3	FCGR2B	PNP	PAX4	RHD	LACC1	WIPF1	ITCH	HLA-DRB1	RASGRP1	ACP5	ADA2	NFKB1	C1QA	STAT1	C1R	IFNGR1	UBA1	LMNB2	IRF2BP2	RNASEH2C	RFXAP	LEMD3	CYBC1	RNU7-1	IL7R	FOXD3	SEC23B	RMRP	HAVCR2	C1S	DNASE1	KDM6A	KIAA0319L	POMP	CD244	TREX1	IL6	TBX1	HLA-DQB1	PIK3R1	PI4KA	C2	SPIB	GFI1	CIITA	GP1BB	IL2RB	RAG2	MMP2	TNFRSF13B	CCN2	IL2RA	GALC	RREB1	CHD7	PTPN22	TCIRG1	MASP2	RFXANK	TPP2	IL2RG	ZAP70	C1GALT1C1	FCGR3B	CTLA4	RNASEH2B	MAGT1	GPR35	LRBA	CSF2RB	GRIN2A	PRTN3	SOCS1	STING1	ANKRD55	LAT	NFKB2	ICOS	RAG1	PTPN2	BACH2	PGM3	HLA-DPB1	TNFRSF13C	IL12RB1	SPP1	FASLG	WAS	CD247	CD19	CD81	SMARCAL1	TNPO3	STAT4	CTNNBL1	LCK	IL12A	CR2	SLC22A4	CFTR	ITPR3	COL4A5	TTC7A	GATA2	PSMG2	TNFSF15	PTEN	PEPD	ELANE	IGKC	PIK3CG	POU2AF1	CASP10	FAS	TBX2	TLR7	C4A	CSF2RA	RNASEH2A	CLPB	DDX41	ADA	RFX5	HIRA	CCR6	BTK	PRKCD	NBN	TNFAIP3	FCGR2A	CAV1	RHAG	CTNNB1	KMT2D	FLT1	RHCE	SERPING1	MS4A1	CLCNKB	SMPD1	SEMA6B	ARVCF	LIG4	C8A	NFKBIL1	NLRP1	CDKN1B	TCF4	COL4A6	AIRE	IRF5	LSM11	ITK	TRAC	TLR8	SRP54	SLC7A7	COMT	LCP2	C1QC	HNF1A	CORIN	IL18BP	SEC24C	MST1	IRAK1	MMEL1	DCLRE1C	C3	STAT3	SASH3	IFIH1	DEF6	MIF	IL10	SAMHD1	IGHG2	ARPC1B	STIM1	ADAR	CARD10	THRB	STOX1	FADD	TOM1	FMR1	RIPK1	SEMA4D	TNFSF12	HLA-DPA1	JMJD1C	POLG	ARHGEF1	CD3G	COPA	NRAS	NHEJ1	PLCG2	MTHFD1	C1QB	UFD1	KRAS	SLC12A3
HP_DYSGAMMAGLOBULINEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSGAMMAGLOBULINEMIA	XIAP	SH2D1A	CD40LG	IKBKG	NBN
HP_ABNORMAL_DELAYED_HYPERSENSITIVITY_SKIN_TEST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DELAYED_HYPERSENSITIVITY_SKIN_TEST	FASLG	RFXAP	EPG5	CASP10	RFX5	FAS	WAS	RAB27A	NSMCE3	JAK3	CIITA	RFXANK
HP_CUTANEOUS_ANERGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTANEOUS_ANERGY	RFXAP	EPG5	RFX5	JAK3	CIITA	RFXANK
HP_CUBITUS_VALGUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUBITUS_VALGUS	MAP2K1	LZTR1	NOG	CLCF1	VPS13B	SHOX	CUL4B	LMBRD2	ASPH	PSMD12	PEX5	POP1	BRAF	PTPN11	KRAS	BCOR	SIL1	NF1	SPRED2	EVC2	CHST3	KDM5C	SFRP4	WNT4	CBL	POR	TUBB3	SOS1	RAF1	DYNC2LI1	GJA1	SHOC2	GLI1	IL6ST	NUP107	PEX1	LMX1B	FGF9	PEX2	LARS2	MAP2K2	MAPK1	PTH1R	RSPRY1	EVC	HEATR3	PRKACA	BPTF	SRY	PRKACB
HP_GENU_VARUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENU_VARUM	COMP	VDR	COL9A3	CYP3A4	DDRGK1	CYP27B1	CCN6	NEB	POLRMT	TRIP11	MMP9	COL9A2	ENPP1	FN1	IHH	ACAN	XYLT1	COL2A1	MMP13	IDH1	ACTA1	PHEX	RAB23	CANT1	TRPV4	C12orf57	SLCO2A1	LMOD3	DYM	FGFR3	RBM8A	POLR3A	DMP1	TCTN3	HPGD	PRKG2	TPM2	WDR62	ORC1	LTBP1	RECQL4	TONSL	ORC6	CYP2R1	RPL13	KAT6A	COL10A1	ANAPC1	CFL2	KIF22	NKX3-2	RMRP	MATN3	COL9A1	KLHL41	EFL1	SHOX	UFSP2
HP_REDUCED_DELAYED_HYPERSENSITIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_DELAYED_HYPERSENSITIVITY	FASLG	CASP10	FAS	RAB27A	NSMCE3
HP_ABNORMAL_FOREARM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FOREARM_MORPHOLOGY	VPS35L	BRD4	EXTL3	LMBR1	SMAD6	KAT6B	FANCB	VPS37D	MECOM	LRP4	GDF5	CLCN3	WNT7A	BMP1	BHLHA9	FGFR2	FANCA	IFT43	UBE2T	B3GALT6	AFF3	COL9A2	FLNA	EXOC6B	GLI3	COL2A1	FANCD2	CANT1	KRAS	CBL	BCOR	COL27A1	SALL4	RECQL4	CTBP1	PRKAR1A	RRAS2	METTL27	EXT1	SLC26A2	XYLT1	ELN	HDAC8	DHCR7	ARID1B	TGFB1	FANCE	FGFRL1	TBX3	SLC39A13	DYNC2H1	TBX5	PTPN11	TAPT1	GTF2IRD1	CHSY1	B4GALT7	CCDC8	COL10A1	MAGEL2	RRAS	MRAS	OBSL1	FGFR3	SKI	RBM10	COL7A1	RAI1	SMC1A	FANCC	FANCL	RIT1	MMP9	CD96	LAMA5	JAG1	IHH	TMEM67	FGFR1	MAP2K2	PALB2	BMPR1B	ALG12	CREBBP	BCL7B	MLXIPL	BRCA2	DHODH	IFT81	DVL1	CYP26B1	BGN	MACROH2A1	CHRNG	NCF1	CHN1	MASP1	TWIST1	NALCN	RPL26	TBX22	SLX4	LMX1B	FGF10	COLEC11	FKBP6	AGA	RAD51C	FLNB	RFC2	PCNT	TBL2	FANCF	MAD2L2	GTF2I	CHD7	PRKG2	IFIH1	GPC6	FANCI	ATR	DONSON	SHOX	COL1A1	CLIP2	BRIP1	EXT2	BICRA	COL9A1	FGF9	RFWD3	MAFB	XRCC2	MAF	STX1A	HOXA11	ROR2	B2M	COL9A3	DNAJC30	SOX9	RAD21	LETM1	CPLX1	FZD2	COL5A2	NIPBL	SRCAP	CUL7	RIPK4	PTDSS1	NRAS	MYH3	CDC45	RPS19	COLEC10	TNFRSF11A	GSC	EIF4A3	TRPV4	AEBP1	SETBP1	BRAF	NSD2	NOG	SAMD9	FKBP10	RBM8A	SOS2	BRCA1	SHH	CSGALNACT1	POR	TNNT3	SF3B4	WNT5A	CHST3	SCARF2	P3H1	REV3L	SMC3	SPRED2	TBX15	BUD23	PIGT	ESCO2	PLXND1	RASA2	KIF22	PIEZO2	RAF1	ASXL1	BAZ1B	TNNI2	NOTCH2	AFF4	ERCC1	COMP	RAB3GAP2	EP300	LZTR1	TPM2	MMP13	FANCM	PITX1	PDE4D	EIF4H	GTF2IRD2	LIMK1	ERCC4	MAP3K7	NDN	NPR2	ZIC3	LBR	SNRPN	TMEM270	IFITM5	COL11A1	FGF23	B3GAT3	TRIP11	MAP2K1	FANCG	ANAPC1	APC	CILK1	COL5A1	HOXD13	SOS1	TRIO	CCNQ	RAD51	RNU4ATAC
HP_RADIOULNAR_SYNOSTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RADIOULNAR_SYNOSTOSIS	BRD4	DNAJC30	RAD21	SMAD6	LETM1	KAT6B	CPLX1	VPS37D	MECOM	LRP4	FGFR2	MAF	NRAS	HOXA11	COLEC10	CBL	BCOR	SALL4	SETBP1	CTBP1	RRAS2	METTL27	NSD2	XYLT1	ELN	SOS2	HDAC8	TWIST1	CSGALNACT1	CHSY1	POR	FGFRL1	CHST3	TBX5	PTPN11	SMC3	SPRED2	GTF2IRD1	B4GALT7	RRAS	MRAS	BUD23	SMC1A	RIT1	SF3B4	FGFR3	ESCO2	RASA2	PIEZO2	B3GALT6	RAF1	BAZ1B	BCL7B	MLXIPL	LZTR1	NCF1	MASP1	CANT1	EIF4H	RPL26	TBX22	NIPBL	GTF2IRD2	LIMK1	COLEC11	FKBP6	RFC2	TBL2	TMEM270	KRAS	GTF2I	DONSON	B3GAT3	CLIP2	APC	BICRA	SOS1	STX1A	DHODH
HP_BOWING_OF_THE_LEGS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BOWING_OF_THE_LEGS	ARSB	IARS2	CYP3A4	COL2A1	VPS37D	CYP27B1	GDF5	HSPG2	MATN3	ACP5	BHLHA9	HS2ST1	POLRMT	CENPT	ZBTB20	TRIP11	B3GALT6	MMP9	NF1	COG5	MKRN3	COL9A2	ZNF699	GAN	FN1	COL11A1	MEGF8	IPO8	IDH1	ACTA1	MEG3	CANT1	KRAS	BCOR	EHHADH	SLCO2A1	OCRL	CAMK2A	METTL27	EXT1	SLC26A2	TRPV4	CTNS	SFRP4	TMEM38B	ENPP1	TGFB1	TCTN3	HPGD	RSPRY1	TBC1D7	TONSL	SMOC1	DYNC2H1	TPM2	WDR62	IDUA	GTF2IRD1	PUS3	TENT5A	ZEB2	PAPSS2	RECQL4	COL9A1	COL1A1	KAT6A	COL10A1	COL11A2	CFL2	RMRP	FGFR3	SKI	COMP	GLI1	HS6ST1	DYM	LAMA5	IHH	WNT7A	MAP2K2	CYP19A1	COL1A2	FLNA	RPGRIP1L	ALPL	RAB23	BCL7B	MLXIPL	SP7	MPZ	H3-3B	MTX2	DDRGK1	PCYT1A	VPS13B	TRPS1	NCF1	LOXL3	KDELR2	NEK8	TRPV6	BPNT2	LONP1	C12orf57	FKBP6	ARCN1	RFC2	KIF7	PCNT	TBL2	CHST3	COL9A3	POLR3A	NEPRO	TUBB3	IFT172	SLC34A1	GTF2I	PRKG2	IFIH1	RUNX2	NEK9	TFE3	TNFRSF11B	FLNB	HERC2	UGP2	CLIP2	CRTAP	NKX3-2	EVC2	EXT2	EFL1	ARSK	EVC	STX1A	HEATR3	CLCN5	SATB2	LIFR	MAN2B1	CYP2R1	VDR	DNAJC30	NPAP1	SOX9	FIBP	SLC10A7	SETBP1	CCN6	SNORD115-1	CSGALNACT1	NEB	SPTBN1	FBN1	PWRN1	FGFR2	ACAN	CDC45	MMP13	GNPTG	SNORD116-1	TNFRSF11A	GLB1	PWAR1	BRAF	ATP7A	RBM8A	DLK1	POR	NDUFAF6	DMP1	RAB33B	SCARF2	ORC1	P3H1	EIF2AK3	LTBP1	RPL13	SF3B2	SGMS2	MTAP	BUD23	LRP5	KIF22	ATRX	CTC1	KLHL41	MAPK8IP3	POLR1A	PRKACB	SHOX	BAZ1B	PHEX	NOTCH2	PRKACA	ELN	UFSP2	HBB	CPLANE1	PLOD2	IFT57	GORAB	NSD1	MAGEL2	EIF4H	XYLT1	GTF2IRD2	LIMK1	MCTP2	LMOD3	RTL1	SERPINH1	CBS	LBR	TMEM270	DDR2	CLCN7	GUSB	BRF1	SPART	ZPR1	GALNS	SLC34A3	B3GAT3	RNU4ATAC	DYNC2LI1	ORC6	MAP2K1	DYNC2I1	ANAPC1	TNFSF11	CILK1	PEPD	CLTCL1	PMP22	FGF23	P4HTM
HP_FEMORAL_BOWING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEMORAL_BOWING	PLOD2	SOX9	COL1A1	CYP27B1	GDF5	MATN3	PCYT1A	BHLHA9	LIFR	GORAB	MAN2B1	CLCN5	NEK8	COL1A2	WNT7A	MMP13	TRPV6	TNFRSF11A	FGFR3	POR	LBR	RBM8A	TMEM38B	ENPP1	COL11A1	NEPRO	DMP1	RSPRY1	DYNC2H1	SCARF2	P3H1	TENT5A	SLC34A3	NEK9	RNU4ATAC	CYP2R1	SGMS2	TNFRSF11B	DYNC2I1	COL10A1	RMRP	FGFR2	DYM	LAMA5	POLR1A	PRKG2	VDR	PHEX	FLNA
HP_ABNORMALITY_OF_THE_CALF	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CALF	SCN1A	ARSB	IARS2	SEMA3E	CYP3A4	COL2A1	VPS37D	CYP27B1	IFT122	GDF5	HSPG2	MATN3	BHLHA9	HS2ST1	ZBTB20	SHH	ZNF699	GAN	HYLS1	COL11A1	MEGF8	IPO8	IDH1	ACTA1	CANT1	KRAS	CAMK2A	STX1B	TRPV4	CTNS	SFRP4	TMEM38B	SCN9A	TCTN3	RSPRY1	TBC1D7	SLC26A2	TBXAS1	DYNC2H1	TPM2	TAPT1	CHEK2	IDUA	PUS3	ZEB2	RECQL4	EXT1	KAT6A	GPX4	COL10A1	CFL2	FGFR3	SKI	GABRD	HS6ST1	DYM	LAMA5	CYP19A1	COL1A2	FLNA	RPGRIP1L	PTH1R	ALG12	MLXIPL	SP7	H3-3B	MTX2	DDRGK1	PCYT1A	TRPS1	LOXL3	NEK8	LMBR1	BPNT2	LONP1	C12orf57	FKBP6	FLNB	KIF7	PCNT	POLR3A	CHD7	PRKG2	ATR	RUNX2	NEK9	TNFRSF11B	CLIP2	EVC2	EXT2	RMRP	COL9A1	EFL1	GPC6	SCN1B	SATB2	MAN2B1	CYP2R1	SOX9	SNORD115-1	CSGALNACT1	SPTBN1	FBN1	PWRN1	FGFR2	ENPP1	CLCN5	SHOX	CDC45	MMP13	PWAR1	INTU	ATP7A	GABRG2	NDUFAF6	DMP1	DONSON	SCARF2	P3H1	LTBP1	CHST3	SGMS2	TBX15	KIF22	ATRX	VPS13B	MAPK8IP3	POLR1A	PRKACB	POR	COL9A2	BAZ1B	PHEX	AFF4	PRKACA	ELN	UFSP2	SF3B4	HBB	COMP	IFT57	RB1	MAGEL2	IHH	EIF4H	CCN6	XYLT1	MCTP2	TP53	CBS	SLC29A3	LBR	OCRL	CLCN7	PRR12	GUSB	BRF1	SPART	ZPR1	HCN1	TRIP11	DYNC2I1	SLC35D1	CILK1	PEPD	PMP22	COL1A1	AMER1	GABRA1	VDR	P4HTM	BMPR1B	NEK1	WNT7A	ACP5	POLRMT	COL9A3	CENPT	B3GALT6	MMP9	AFF3	NF1	COG5	MKRN3	FN1	GLI3	NANS	MEG3	HPGD	BCOR	EHHADH	SLCO2A1	METTL27	TGFB1	TONSL	SMOC1	WDR62	GTF2IRD1	TENT5A	PAPSS2	COL11A2	GLI1	MAP2K2	ALPL	SCN2A	RAB23	BCL7B	MPZ	BGN	NCF1	AIFM1	PCDH19	KDELR2	TRPV6	EN1	ARCN1	RFC2	ADGRV1	DDX6	TBL2	NEPRO	TUBB3	IFT172	SLC34A1	GTF2I	IFIH1	TRAPPC2	TFE3	HERC2	UGP2	CRTAP	NKX3-2	ARSK	EVC	STX1A	HEATR3	LIFR	DNAJC30	NPAP1	FIBP	SLC10A7	INPPL1	SETBP1	NEB	ACAN	GNPTG	SNORD116-1	TNFRSF11A	EIF4A3	SLC35A2	GLB1	BRAF	RBM8A	DLK1	RAB33B	ORC1	EIF2AK3	RPL13	SF3B2	MTAP	BUD23	LRP5	PITX1	CTC1	KLHL41	ZSWIM6	MET	NOTCH2	ACTB	CPLANE1	PLOD2	CYP27A1	GORAB	NSD1	PAPPA2	GTF2IRD2	LIMK1	LMOD3	RTL1	SERPINH1	TMEM270	DDR2	GALNS	SLC34A3	B3GAT3	RNU4ATAC	DYNC2LI1	ORC6	MAP2K1	ANAPC1	TNFSF11	CLTCL1	LMX1B	FGF23
HP_TIBIAL_BOWING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TIBIAL_BOWING	CPLANE1	SOX9	SATB2	CYP27B1	PCYT1A	SETBP1	SHOX	LIFR	GORAB	COL1A2	CLCN5	MMP13	MEG3	FLNA	RTL1	COL2A1	PCNT	COL1A1	DLK1	ENPP1	DMP1	SMOC1	P3H1	FN1	SLC34A3	CHST3	CYP2R1	FLNB	COL11A2	LRP5	CILK1	CLTCL1	DYM	FIBP	VDR	FGFR3	PHEX	RMRP	COL10A1
HP_MICROMELIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROMELIA	BMPR1B	BRD4	SLC26A2	DYNC2H1	CDKN1C	RAD21	DVL1	PTH1R	HSPG2	MATN3	WDR19	INPPL1	WNT7A	CSGALNACT1	IFT43	PCNT	TRIP11	FGFR2	NIPBL	LBR	DYNC2LI1	ANTXR2	CUL7	NBAS	RNU4ATAC	DYNC2I1	DPYD	DVL3	FZD2	WDR35	COL11A2	EVC2	ACAN	HDAC8	COL11A1	TCTN3	WNT5A	PUF60	DONSON	GDF5	KIAA0586	SMC3	CCDC8	LRP4	GLI1	IDH1	TTC21B	OBSL1	IFT80	SMC1A	SMO	CD96	IHH	SHOX	RMRP	ACTB	ALPL	DYNC2I2	GLUL	IFT172	DDRGK1	IFT81	PRKAR1A	FAM20C	FGFR3	DHCR7	PDE4D	B3GLCT	IFT140	HYLS1	HHAT	SERPINH1	FLNB	COL2A1	PAM16	DDR2	ADAMTS2	KIF7	GPC6	APC	SLC35D1	CILK1	CRTAP	PHGDH	CEP120	DHCR24	IDH2	TRPV4	POLE	EVC	PRKACA	LIFR	PRKACB
HP_HYPOPLASIA_OF_THE_RADIUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_RADIUS	ALG12	FANCB	TBX5	DHODH	IFT81	LRP4	GDF5	WNT7A	XRCC2	CHN1	PRKAR1A	NIPBL	FGFR3	PDE4D	RPL26	SLX4	FGF10	SHOX	RPS19	SALL4	EIF4A3	NPR2	RECQL4	RBM8A	RAD51C	ESCO2	FANCF	TBX3	SF3B4	ATR	DONSON	TRIP11	FGFR2	FANCI	APC	RBM10	RFWD3	IHH	CCNQ	MAFB	AFF4	ROR2
HP_RADIAL_BOWING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RADIAL_BOWING	B2M	GDF5	GLI3	WNT7A	COL11A1	PRKG2	IFT43	FGF23	SHOX	B3GALT6	P3H1	FLNB	FGFR3	HOXA11	TRPV4	NPR2	TMEM67	MMP13	SLC26A2	PCNT	ROR2	LBR	COL2A1	FLNA
HP_FIBULAR_APLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FIBULAR_APLASIA	CPLANE1	RBM8A	FLNA	LMBR1	GDF5	FLNB	WNT7A	AMER1	BMPR1B	TBX15
HP_ABNORMALITY_OF_FIBULA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FIBULA_MORPHOLOGY	BMPR1B	CPLANE1	FLNA	LMBR1	SOX9	FLNB	MTX2	DDRGK1	IFT122	GDF5	INPPL1	WNT7A	BGN	BHLHA9	AFF3	PAPPA2	EXT2	COL11A1	CLCN5	GLI3	SHOX	GPX4	NANS	CANT1	EIF4A3	INTU	COL2A1	EXT1	RBM8A	DDR2	POR	SHH	FGFR2	CYP27B1	SMOC1	DYNC2H1	TAPT1	ATR	SLC34A3	TBX15	COL11A2	SLC35D1	CILK1	AMER1	GPC6	IHH	PTH1R	MET	VDR	FGFR3	PHEX	AFF4	ATP7A	CYP2R1	SF3B4
HP_ABNORMALITY_OF_TIBIA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_TIBIA_MORPHOLOGY	BMPR1B	SCN1A	SOX9	LMBR1	NEK1	FLNB	SEMA3E	COL2A1	CYP27B1	GDF5	WNT7A	SETBP1	BHLHA9	COL9A3	NF1	SHH	HYLS1	EXT2	CHD7	CLCN5	GLI3	SHOX	SCN1B	MMP13	MEG3	HPGD	EIF4A3	SLC35A2	INTU	STX1B	GABRG2	RBM8A	DLK1	SCN9A	ENPP1	TGFB1	POR	DMP1	TCTN3	COL1A1	TBXAS1	SMOC1	DONSON	DYNC2H1	P3H1	CHEK2	FN1	CHST3	COL11A2	LRP5	PITX1	SLC26A2	GABRD	DYM	LAMA5	IHH	ZSWIM6	FGFR3	PHEX	COL1A2	RMRP	COL10A1	FLNA	ACTB	CPLANE1	ALG12	SCN2A	SATB2	PCYT1A	LIFR	CYP27A1	RB1	GORAB	AIFM1	PCDH19	EN1	RTL1	TP53	ADGRV1	EXT1	SLC29A3	PCNT	DDX6	PRR12	COL11A1	TRAPPC2	HCN1	SLC34A3	CYP2R1	CILK1	CLTCL1	LMX1B	COL9A2	GPC6	GABRA1	FIBP	VDR	ATP7A
HP_LIMITED_ELBOW_MOVEMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_ELBOW_MOVEMENT	SMAD6	ERCC6	MAP3K20	ITCH	MECOM	MATN3	GJB2	HS2ST1	TMEM43	LMNA	FLNA	EXOC6B	FBN1	COL2A1	FBXO28	EXTL3	EMD	FGFR2	PLOD1	SYNE2	SLC26A2	STAG1	ASXL1	UBA1	TRPV4	SFRP4	TBX3	TONSL	FHL1	SLC39A8	DMD	CPT2	GNS	NALCN	COL6A1	RMRP	FGFR3	COL6A3	UNC80	SRD5A3	MYL11	WNT7A	COL12A1	FBN2	MAPK1	ECEL1	KY	JAG2	DDR2	DVL1	BGN	COL6A2	MASP1	MYH3	PSMB8	ERGIC1	LMX1B	SLC6A9	MET	PTPN11	MYL2	COLEC11	TPM2	HRAS	PCNT	RECQL4	DYM	HDAC8	TRAPPC2	ATR	ANO5	GNB1	MED12	TFE3	HACD1	TFAP2A	GPC6	LAMA2	LIFR	ACTA1	TBX5	RNU4ATAC	ESCO2	MYL1	CSGALNACT1	OPA3	FZD2	ABCC9	SPRTN	NIPBL	STXBP1	PTDSS1	GNB2	HOXA11	COLEC10	FKBP10	DYSF	SALL4	TMEM222	ATP7A	SPRED2	COL9A3	POR	PYCR1	WNT5A	CHST3	TOR1A	SCARF2	PITX1	PIGY	KIF22	B3GLCT	SELENON	SF3B4	SYNE1	CAPN3	BANF1	ERCC1	LGI4	SVIL	COMP	PLOD2	ALDH18A1	CLCF1	TPM3	MYOT	ERLIN2	SMC3	RSPO2	FLNB	SLC25A46	SCYL2	PIGA	PLOD3	MAP3K7	SMC1A	PSTPIP1	COL25A1	PPP2R3C	NPR2	SYT2	ITGA7	MMP13	SLC29A3	LBR	TBX15	CRLF1	KCNK9	IFITM5	EZH2	SHOX	B3GAT3	PIK3C2A	SNRPB	B3GALT6	LARGE1	FDFT1	PTH1R	RSPRY1	P4HTM
HP_PATELLAR_DISLOCATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATELLAR_DISLOCATION	CREBBP	PKDCC	MAB21L2	DNAJC30	BCL7B	FLNB	MLXIPL	EP300	KAT6B	VPS37D	SEC24C	EBP	NOTCH2	NEDD4L	NCF1	COL5A2	STXBP1	CANT1	TMTC3	EIF4H	LMX1B	HIRA	GDF5	TBX1	FLNA	GTF2IRD2	LIMK1	RYR1	BPNT2	FKBP6	PLOD1	METTL27	RFC2	TBX4	ERMARD	XYLT1	FZD2	TBL2	TMEM270	OCRL	RBM8A	CSGALNACT1	GP1BB	ARVCF	SLC26A2	GTF2I	ARFGEF2	JMJD1C	GTF2IRD1	MAP1B	CHST11	YY1	RREB1	COL1A1	EXOC6B	BUD23	CLIP2	COL5A1	ARF1	FBN2	PRKACB	COMT	UFD1	STX1A	BAZ1B	ELN	RNU4ATAC
HP_GLOMUS_JUGULAR_TUMOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLOMUS_JUGULAR_TUMOR	SDHD	SDHAF2	NF1	SDHC	SDHB
HP_BREAST_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BREAST_CARCINOMA	PIK3CA	KLLN	TP53	FGFR2	SDHD	POLE	PALB2	SDHB	BRCA1	CASP8	BRCA2	USF3	XRCC3	APC	SEC23B	RAD51	KRAS	RAD51C	RB1CC1	TWIST1	CDH1	BARD1	MSH2	MSH6	GNAS	STK11	PALLD	ATR	SLC22A18	AAGAB	MDM2	ESR1	AXIN2	MRE11	AKT1	BRIP1	NTHL1	SLC6A17	CDKN2A	OPCML	MLH1	SMAD4	PTEN	CHEK2	NQO2	MEFV	RAD54L	RAD50	COL14A1	CTNNB1	PPM1D	NF1	RABL3	RNF43	ERBB2	HMMR	WRN	RAD51D	POLD1	PRKN	ATM	PHB1	IDH1	IDH2	SDHC	NBN
HP_COLON_CANCER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COLON_CANCER	PMS1	MLH1	MBD4	TGFBR2	BUB3	APC	PMS2	SMAD4	TRIP13	PALB2	CEP57	BRCA1	CHEK2	FOXE1	BRCA2	TP53	CDKN2A	MINPP1	RPS19	HABP2	BMPR1A	MSH3	KRAS	MSH2	MLH3	AXIN2	FLCN	PIK3CA	RABL3	MSH6	FAN1	PALLD	BUB1B	MDM2	MUTYH	NTHL1	EPCAM	GREM1	BUB1	SMAD7	SH3KBP1
HP_GANGLIONEUROMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GANGLIONEUROMA	PHOX2B	RET	EDN3	BDNF	GDNF	KIF1B	MYO1H	ASCL1
HP_PROLONGED_BLEEDING_TIME	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLONGED_BLEEDING_TIME	ITGB3	PLEC	F2	ITGA2B	WIPF1	GATA2	RASGRP2	VWF	DLL4	COL5A2	GP9	F5	NF1	GP1BA	RIN2	ADAMTS2	WAS	HPS1	TP53	NBEAL2	GFI1B	RUNX1	MYH9	TET2	HPS6	GATA1	MYRF	CALR	ADAMTSL2	ITGB4	SH2B3	CD36	SLC35A1	AGGF1	GP1BB	CREB3L1	GP6	COL1A1	COL5A1	BMS1	MPL	AP3B1	JAK2	HPS5	UBA2	MAP2K2	TEK
HP_FLARED_METAPHYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLARED_METAPHYSIS	COMP	TRPV4	SH3PXD2B	PTH1R	IARS2	CYP3A4	DDRGK1	GJA1	LIFR	B3GALT6	PEX7	LBR	FIG4	RMRP	PTDSS1	EXOC6B	NANS	MMP13	FGFR3	FAM111A	FLNA	NPR2	COG4	COL2A1	EED	TCIRG1	PCNT	DDR2	EZH2	TONSL	CHST3	SLC39A13	PRKG2	COL11A2	TAPT1	RUNX2	B3GAT3	B4GALT7	PCYT1A	OSTM1	COL10A1	ALG9	KIF22	POLR1A	VAC14	XYLT1	MAP3K7	ERCC1
HP_METAPHYSEAL_WIDENING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METAPHYSEAL_WIDENING	IDUA	ARSB	PTH1R	IARS2	CYP3A4	MATN3	INPPL1	CCN6	ATP7A	TRIP11	B3GALT6	MMP9	LBR	FIG4	ACAN	PTDSS1	EXT2	FLNA	EXOC6B	COL11A1	NANS	MMP13	IDH1	CSF1R	CANT1	GLB1	TRPV4	GNPTAB	SRP54	COG4	SLC26A2	TCIRG1	SBDS	CTNS	SFRP4	TONSL	NSMCE2	CHST3	SLC39A13	DYNC2H1	COL11A2	PITX1	TAPT1	MMP2	DNAJC21	B4GALT7	FGFR3	OSTM1	COL10A1	RMRP	SKI	LRP5	DYM	VPS33A	KIF22	POLR1A	VAC14	ERCC1	COMP	SH3PXD2B	COL2A1	DDRGK1	PCYT1A	PLCB3	GJA1	LIFR	PEX7	AIFM1	ABCC9	XYLT1	PHEX	MAP3K7	FAM111A	NPR2	EFL1	ARCN1	ALG9	EED	EXT1	SLC35D1	PCNT	HSPG2	DDR2	ANKH	EZH2	PRKG2	ACP5	GALNS	RUNX2	B3GAT3	HNRNPH1	ACVR1	BMPR1B	WDR19
HP_ABNORMALITY_OF_THE_WRIST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_WRIST	BMPR1B	HOXD13	EXTL3	LMBR1	ABCC6	CYP27B1	GDF5	TRIP11	B3GALT6	GPC4	FLNA	NANS	MAP3K7	IDH1	LEMD3	MEG3	CANT1	GNPTAB	OCRL	PAX3	ASXL1	ENPP1	SETD2	SHH	SIK3	MMP2	CHSY1	MECP2	EXOC6B	EBP	COL6A3	COL7A1	DYM	IHH	MYL11	BHLHA9	WNT7A	COL12A1	FBN2	HSPG2	SLC34A2	NIN	PTH1R	TRPV4	DDR2	TNNI2	BGN	MACROH2A1	HOXA13	NOG	MYH3	ANKRD55	PSMD12	TBX3	NALCN	GDAP1	KIDINS220	PRG4	ERGIC1	MAFB	PTPN2	PIGV	COL6A2	LONP1	PIEZO2	DLK1	SLC35D1	RECQL4	RTL1	FGFR2	IL2RB	FLNB	COL2A1	MMP14	TRAPPC2	STAT4	ANO5	SHOX	IL2RA	EVC2	PI4KA	EVC	ASAH1	ROR2	ADAMTSL2	LMNA	CLCN5	CYP2R1	TBX5	ESCO2	SLC10A7	DHX16	OPA3	MYH7	TNNT3	EXT2	COLQ	FGFR3	SALL4	GLB1	AEBP1	PTPN22	ATP7A	RAC3	ALG12	RBM8A	POR	DMP1	MBTPS1	PTEN	PITX1	EIF2AK3	CHST3	FBLN1	TBX15	LRP4	GLI1	ZMPSTE24	KIF22	GNE	CAPN3	ALDH18A1	BPTF	NOTCH2	SMOC1	ERCC1	UFSP2	COMP	AKT1	XRCC2	GJA1	LAMB2	TPM2	ERLIN2	CADM3	RMRP	SCYL2	CCN6	XYLT1	COL25A1	NXN	GPC3	EXT1	AIFM1	GALNS	TUBB3	SLC34A3	DYNC2LI1	TONSL	MATN3	APC	COL6A1	RSPRY1	VDR	PRKACA	CD247	PRKACB
HP_ENLARGEMENT_OF_THE_WRISTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGEMENT_OF_THE_WRISTS	CLCN5	ENPP1	AIFM1	VDR	SLC34A3	DMP1	CYP27B1	CYP2R1
HP_METAPHYSEAL_CUPPING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METAPHYSEAL_CUPPING	ALPL	INPPL1	NEPRO	CYP3A4	PCYT1A	PTH1R	PEX5	TRIP11	LBR	AIFM1	HDAC6	COL10A1	COL11A2	GPX4	RMRP	IDH1	COL2A1	MMP13	PAM16
HP_METAPHYSEAL_IRREGULARITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METAPHYSEAL_IRREGULARITY	COMP	TRPV4	ARSB	IARS2	DDRGK1	CYP27B1	PCYT1A	BGN	CFAP410	MMP9	QRICH1	LPIN2	FN1	CLCN5	DNAJC21	COL2A1	GPX4	NANS	MMP13	IDH1	FGFR3	DYM	KIAA0586	EFL1	SRP54	SLC35D1	LBR	SBDS	CSPP1	SIK3	TONSL	RAB33B	PEX5	PRKG2	ACP5	CASR	SLC34A3	CYP2R1	RPL13	COL10A1	MATN3	EXOC6B	KIF22	NKX3-2	RMRP	PTH1R	RSPRY1	VDR	PHEX	SLC17A5
HP_SHORT_LONG_BONE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_LONG_BONE	IARS2	FANCB	IFT122	LRP4	GDF5	HSPG2	MATN3	BHLHA9	HOXD13	KIAA0753	UBE2T	SHH	LBR	HYLS1	FLNA	COL11A1	EP300	CANT1	EXTL3	SALL4	GNPTAB	FBXL3	CAMK2A	PRKAR1A	IFT140	TCF4	GLI3	RSPRY1	LONP1	SLC26A2	DYNC2H1	FBN1	ZIC3	TAPT1	CHSY1	RECQL4	CREB3L1	CCDC8	GPX4	COL10A1	OBSL1	FGFR3	BMP2	RBM10	SMC1A	DYM	CD96	LAMA5	ZNF407	KCNJ2	PALB2	PTH1R	TWIST2	BMPR1B	ALG12	POLR3A	BRCA2	ASXL2	DHODH	NADSYN1	DVL1	PCYT1A	PLCB3	RPS6KA3	CHN1	RPL26	FGF10	SCUBE3	LMBR1	GNAS	BPNT2	RAD51C	TBX4	PCNT	PTCH1	COG1	COL2A1	FANCF	MAD2L2	CHD7	PRKG2	FANCA	PHYH	ATR	NEK9	PDE4D	TNFRSF11B	COL11A2	BRIP1	EVC2	FIG4	EXT2	RMRP	GPC6	RFWD3	MAFB	PTHLH	SRY	GNAS-AS1	SVBP	SOX9	RAD21	TBX5	FLNB	FZD2	SHOX	GHR	HDAC4	GSC	TRPV4	INTU	SALL1	ATP7A	CWC27	NOG	BRCA1	COL9A3	PDE3A	DONSON	WNT5A	SCARF2	P3H1	CHST3	TTC21B	FANCI	DYNC2I2	B3GLCT	PRMT7	PIGT	WDR35	VPS13B	AFF4	SF3B4	COMP	RIPK4	XRCC2	XYLT1	KNSTRN	ERCC4	MAP3K7	LZTFL1	TCTN3	SIL1	EXT1	PAM16	SMARCA2	SRCAP	EZH2	IFT80	RUNX2	TRIP11	DYNC2I1	SNRPB	SLC35D1	AMER1	CCNQ	PIK3CD	ACVR1	FANCC	ROR2	VPS35L	BRD4	NEK1	WNT7A	B3GALT6	AFF3	PEX7	MEG3	IFT52	AMMECR1	HDAC8	INPPL1	TBX3	TONSL	SMOC1	PEX5	SLC39A13	FGF16	EXOC6B	TRPS1	POC1A	IHH	JAG1	RBPJ	IFT81	BGN	HOXA13	MYSM1	FGFR1	SLX4	GLB1	SMAD4	FANCD2	NHS	NEPRO	IFT172	FGFR2	SUFU	RNU4ATAC	HHAT	EVC	IL6ST	ADAMTSL2	LTBP3	B2M	PTCH2	SLC10A7	SETBP1	CDC42BPB	STX16	GNPAT	NIPBL	CUL7	RPS19	TNFRSF11A	EIF4A3	SLC35A2	COG4	DNMT3A	SUCLG1	RBM8A	DLK1	AGPS	POR	RAB33B	PUF60	SMC3	FN1	RPL13	DCHS1	ESCO2	MET	CPLANE1	RAB3GAP2	SH3PXD2B	DYNC2LI1	LIFR	FANCM	HINT1	FERMT1	FANCL	DDRGK1	RTL1	NPR2	ALG9	FAT4	TBX15	DDR2	FANCE	FANCG	PIGS	ANAPC1	APC	PORCN	HEPHL1	RAD51
HP_MESOMELIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MESOMELIA	DVL3	ACAN	NEK1	CTSK	DVL1	GDF5	TRIP11	AFF3	LBR	NGLY1	GLI3	SHOX	EIF4A3	PTH1R	NPR2	NXN	WDR35	TBX15	DHCR7	FLNA	RAC1	SIK3	TONSL	WNT5A	PRKG2	GPC6	IFT80	DONSON	CREB3L1	KIF15	FGFR3	ESCO2	ROR2	RMRP
HP_ABNORMALITY_OF_THE_ANKLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ANKLES	SPG11	SCN1A	MAP3K20	SPART	VPS37D	CYP27B1	HTT	PI4KA	FA2H	KIF1A	MFN2	SAMD9L	KIF5A	COL9A2	FLNA	GLI3	RAB18	IDH1	SCN9A	SETD2	TIMM8A	RYR1	METTL27	STX1B	UCHL1	ATL1	SGCA	SYNE1	UBA1	ANO10	PNPT1	IL2RB	STUB1	NDUFS8	KLC2	MMP2	GTF2IRD1	IL2RA	GDF5	COL6A3	GABRD	DPM1	COL12A1	SOD1	SPAST	COL6A2	CHMP1A	RTN2	GBA2	GFM2	SCN2A	PSAT1	DDR2	BCL7B	MLXIPL	NCF1	ZFYVE27	NT5C2	ANKRD55	TOR1AIP1	PSMD12	PLA2G6	WNK1	RPL10	ABCD1	GALC	ERGIC1	MAFB	PTPN2	SLC39A14	MYL2	FKBP6	TPM2	CYP27A1	RFC2	ADGRV1	SLC1A4	TBL2	APC2	GJC2	CD247	NOG	DYM	GTF2I	CYP7B1	STAT4	ANO5	CLIP2	HACD1	UBE3A	VCP	COL9A1	FLT4	LMNA	STX1A	CLCN5	MAN2B1	CYP2R1	COL9A3	DNAJC30	ESCO2	AARS1	SLC52A3	MYH7	SLC16A2	SMG9	SPTBN4	EXT2	RTTN	ALAD	REEP1	SCN1B	FKBP10	ATP5F1D	KLHL9	C18orf32	PTPN22	GABRG2	NSD1	DNMT3A	DAG1	ZMPSTE24	RETREG1	PSAP	BUD23	POU3F4	PIGT	SELENON	SELENOI	CAPN3	BAZ1B	NIPA1	BPTF	ELN	COL10A1	LGI4	SVIL	FIG4	RAB3GAP2	PYCR2	LIFR	TPM3	COL6A1	ERLIN2	C19orf12	EIF4H	NTRK1	SCYL2	OCA2	GTF2IRD2	LIMK1	MAP3K7	FGF13	COL25A1	DYRK1A	SYT2	ITGA7	PEX16	EXT1	CARS1	TMEM270	CD40LG	ADGRG1	ACTA1	COMP	NONO	HCN1	CAPN1	SLC34A3	HNRNPH1	ATP6AP2	VARS1	VDR	NEB
HP_ENLARGEMENT_OF_THE_ANKLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGEMENT_OF_THE_ANKLES	MYH7	CLCN5	IDH1	VDR	SLC34A3	CYP27B1	CYP2R1
HP_ULNAR_BOWING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ULNAR_BOWING	VPS35L	RBM8A	FGFR3	FGFR2	HOXA11	COL11A1	LAMA5	PRKG2	IFT43	SCARF2	POR	MMP13	SHOX	SLC26A2	RIPK4	CHST3	PCNT	RECQL4	FLNA
HP_DIAPHYSEAL_SCLEROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIAPHYSEAL_SCLEROSIS	MTAP	STX16	SOST	TNFSF11	GNAS	CA2	CSF1R	ANO5	TGFB1
HP_ENLARGED_JOINTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_JOINTS	HOXD13	TRPV4	CCN6	COL11A2	SMARCA2	COL2A1	MATN3	KIF7	LIFR	SRCAP	CHST3	KAT6A
HP_FIBULAR_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FIBULAR_HYPOPLASIA	BMPR1B	SOX9	IFT122	GDF5	INPPL1	BHLHA9	SMOC1	DYNC2H1	SHOX	AFF3	ATR	COL11A1	SLC35D1	EIF4A3	AMER1	INTU	GPC6	PTH1R	MET	AFF4	FLNA	SF3B4
HP_ARTHROPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTHROPATHY	NOD2	COL2A1	ATL3	BMP6	CCN6	SAMHD1	PRG4	HGD	SPTLC2	STAT3	NTRK1	HJV	COL11A1	PIK3CD	TNFAIP3	IL6ST	HAMP	HFE	IL10	DNASE2	HPGD	MMP14	CD244	ENPP1	DMP1	CIITA	TRPV4	NFKBIL1	NLRP1	TNFRSF1A	CHST3	SLC22A4	IL36RN	ELP1	F8	MEFV	ALPL	MMP2	SPTLC1	NLRP3	PTPN22	ANKH	ATL1	BMP2
HP_HUMERORADIAL_SYNOSTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HUMERORADIAL_SYNOSTOSIS	FGFR2	NOG	POR	CYP26B1	GDF5	WNT7A	FGF9	DONSON	FGFR1	PTDSS1	TBX15
HP_ABNORMAL_SHOULDER_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SHOULDER_MORPHOLOGY	BCOR	DNAJC30	PTCH2	GABRA3	ABCC6	VPS37D	LMNA	NEDD4L	CUL4B	COL5A2	SPRTN	NAA10	TMTC3	TNNT1	GNB2	MEOX1	MEG3	GSC	AEBP1	PTPN22	METTL27	ELN	RBM8A	DLK1	ARFGEF2	CHST3	EFNB1	TBX5	SCARF2	ORC1	GTF2IRD1	MAP1B	PAX1	BUD23	DYM	MYL11	TRMT10A	HSPG2	IRX5	BAZ1B	KY	PRNP	JAG2	LGI4	BCL7B	MLXIPL	CHRNG	NCF1	COL12A1	LMBRD2	PIEZO2	MYH3	GDF6	NGLY1	ANKRD55	PPP1R15B	EYA1	EIF4H	PTPN2	LMX1B	CCN6	OTUD6B	FLNA	GTF2IRD2	LIMK1	SALL4	FKBP6	HHAT	RTL1	TRPV4	RFC2	ERMARD	TBL2	PTCH1	TMEM270	IL2RB	GTF2I	CHD7	TRAPPC2	SUFU	STAT4	RUNX2	B3GAT3	RNU4ATAC	TMEM251	COL1A2	COL1A1	IL2RA	CLIP2	COL5A1	FIG4	GDF3	ARF1	STX1A	ENPP1	ATP7A	CD247
HP_SHOULDER_FLEXION_CONTRACTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHOULDER_FLEXION_CONTRACTURE	COL12A1	MYL11	HSPG2	MYH3	RNU4ATAC	KY	TNNT1	JAG2
HP_ABNORMAL_PATELLA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PATELLA_MORPHOLOGY	COL9A3	DNAJC30	SOX9	FLNB	KAT6B	COL2A1	VPS37D	EBP	BHLHA9	NEDD4L	COL5A2	LMBR1	STXBP1	COL9A2	TMTC3	PRMT7	HIRA	CDC45	WNT7A	UBR7	RAB23	ORC1	RECQL4	PLOD1	GMNN	METTL27	LMX1B	SLC26A2	XYLT1	CDT1	TBX1	FKBP10	RBM8A	ORC6	CREBBP	ARID1B	CSGALNACT1	SHH	GP1BB	DNMT3A	TBC1D7	ARVCF	ARFGEF2	GJB2	GTF2IRD1	MAP1B	YY1	RREB1	GDF5	EXOC6B	BUD23	PITX1	ESCO2	KIF22	ORC4	FBN2	PRKACB	CDC6	ZSWIM6	COMT	TBX4	SHOX	BAZ1B	GJB6	ELN	PKDCC	MAB21L2	BCL7B	MLXIPL	EP300	SEC24C	NOTCH2	CHRNG	NCF1	COL12A1	CANT1	EIF4H	FLNA	GTF2IRD2	LIMK1	RYR1	USP9X	BPNT2	FKBP6	RFC2	ERMARD	FZD2	TBL2	TMEM270	OCRL	GTF2I	JMJD1C	NLRP3	DONSON	CHST11	COL1A1	ANAPC1	CLIP2	COL5A1	COL9A1	ARF1	UFD1	STX1A	RNU4ATAC
HP_RADIAL_HEAD_SUBLUXATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RADIAL_HEAD_SUBLUXATION	CHD7	DCHS1	XYLT1	B3GALT6	KIF22	GLI3	HNRNPH1
HP_ULNAR_DEVIATION_OF_THE_WRIST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ULNAR_DEVIATION_OF_THE_WRIST	MYH3	COMP	DLK1	ASAH1	FLNB	TNNI2	POR	MEG3	SIK3	TNNT3	GLB1	TPM2	PAX3	RTL1	GALNS	ASXL1	RAC3	ALG12	NALCN	KIDINS220
HP_ENLARGED_METAPHYSES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_METAPHYSES	CHST3	TRAPPC2	COL2A1	B3GAT3	RNU4ATAC	RPL13	EXTL3
HP_ABNORMALITY_OF_THE_RADIOULNAR_JOINTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_RADIOULNAR_JOINTS	AEBP1	POR	B3GALT6	CANT1	TRPV4	EXOC6B
HP_ABNORMALITY_OF_THE_HUMERUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_HUMERUS	ALG12	POLR3A	LMBR1	TBX5	FLNB	NOG	COL2A1	IFT122	CYP26B1	WNT7A	MACROH2A1	FANCB	FZD2	KIAA0753	GNPAT	MYSM1	PITX1	TBX3	SRCAP	RSPO2	PTDSS1	SALL4	GSC	LONP1	TRPV4	GNPTAB	FLNA	POR	SLC26A2	ZIC3	ATP7A	RECQL4	SUCLG1	LBR	TBX15	STX16	RBM8A	AGPS	FGFR2	TGFB1	EZH2	GDF5	TONSL	DONSON	PEX5	PRKG2	GPC6	SHOX	RNU4ATAC	TMEM251	CREB3L1	TNFRSF11B	SNRPB	FGF9	DYM	LAMA5	IHH	FGFR1	GNAS	B3GALT6
HP_PATELLAR_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATELLAR_HYPOPLASIA	PRMT7	ANAPC1	LMX1B	SOX9	UBR7	PITX1	TBX4	GJB2	ZSWIM6	STXBP1	RECQL4	ORC6	GJB6
HP_LIMITED_KNEE_EXTENSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_KNEE_EXTENSION	PCDH19	SCN2A	SCN1A	COL9A3	SCN9A	GABRG2	SCN1B	EZH2	DYM	GABRD	CSGALNACT1	GPC6	GABRA1	FBN2	STX1B	HCN1	ADGRV1	ATP7A	DPYSL5
HP_ELBOW_ANKYLOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELBOW_ANKYLOSIS	GDF5	FGFR2	FGFR1	PTDSS1	WNT7A	POR	MUSK	NOG
HP_FLATTENED_EPIPHYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLATTENED_EPIPHYSIS	TRPS1	SLC10A7	COL2A1	IFT122	CCN6	TONSL	RAB33B	SLC26A2	SLC39A13	UFSP2	AIFM1	EIF2AK3	CHST3	COL9A1	ACAN	MMP13	GNPTG	KIF22	KIF7	COL9A2	CANT1	TRPV4	TBX4	PTH1R
HP_HYPERCALCEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERCALCEMIA	VHL	ALPL	DNAJC30	CDC73	LDHA	CCND1	BCL7B	SDHB	MEN1	MLXIPL	VPS37D	NOTCH3	SDHD	PTH1R	NCF1	KL	PDGFRB	SLC5A1	SLC34A1	EIF4H	PIGT	TMEM127	GCM2	GTF2IRD2	LIMK1	MDH2	DNMT3A	TNFRSF11A	SETD2	CASR	FKBP6	MAX	SLC12A1	CDKN1B	METTL27	RFC2	RET	ELN	CDKN1A	TBL2	APC2	CDKN1C	TMEM270	NF1	NSD1	KIF1B	GTF2I	FH	SDHC	SLC25A11	EPAS1	GTF2IRD1	HLA-DRB1	PIK3C2A	BUD23	CLIP2	CYP24A1	SDHA	AP2S1	CDKN2C	BTNL2	TRIO	CDKN2B	GNA11	STX1A	BAZ1B	DLST	SDHAF2
HP_HYPOALBUMINEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOALBUMINEMIA	FOXP3	UNC13D	B2M	POU2AF1	WDR4	NPHS1	ITGA3	ANLN	CD55	SGPL1	SETX	OSGEP	IFNGR1	IRF8	PRF1	BMPR1A	MYO5B	VPS33A	ALG1	PIK3R5	COL4A3	TBC1D8B	TKFC	DGAT1	KRT5	ALG12	NUP93	FARSB	PLCE1	SPIB	COL7A1	COQ8B	NPHS2	ARHGDIA	ACTN4	ATP7B	FN1	TCF4	PTPRO	PMM2	NUP133	WT1	STXBP2	PTEN	TFAM	STX11	IRF5	CRB2	NUP37	SAR1B	MPI	GPR35	DGUOK	MYO1E	SLC25A13	MST1	MICOS13	EMP2	GAPVD1	APTX	NUP85	MMEL1	MAGI2	COQ2	DHCR7	INF2	APOL1	ALG8	SYK	TTC26	ANKFY1	NUP205	NLRC4	NUP107	XIAP	SH2D1A	TDP1	PDSS2	AHCY	IL12RB1	SLCO2A1	RNU7-1	SKIC3	CD2AP	PAX2	PLVAP	SEMA4D	WDR73	FARSA	TNPO3	AP1B1	IL12A	NUP160	TRPC6	ERCC4	CCBE1	MTTP	ALB	SMAD4	TRMU	TNFSF15	PET100	KRT14	ALG6	EIF2AK3	ARHGAP24	DAAM2
HP_HYPERGLYCEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERGLYCEMIA	LRPPRC	HNF4A	CYC1	SCN4A	KCNJ11	BLK	CACNA1S	ARMC5	INS	BMP6	GATA6	GCK	NARS2	ABCC8	HYMAI	STAT3	GYS2	ZFP57	INSR	CEL	IL6	ZMPSTE24	PDX1	HFE	APPL1	PLAGL1	NEUROD1	SHPK	HNF1A	KLF11	BBS9	RFX6	RIMS2	KCNJ18	KCNE3	PTPN22	ITPR3	SLC2A2	ACAT1	PIK3R1	PPARG	DYRK1B	PAX4	PTF1A	GLI3	BCS1L	LMNA	PRORP	AFF4	GABRA3
HP_HYPOPROTEINEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPROTEINEMIA	RAG2	PRF1	B2M	SLC25A13	RAG1	NPHS1	LYST	FOCAD	CD55	NOS1AP	ACADVL	TMPRSS15	UBR1	ALB	DCLRE1C	LAMB2	RBCK1	DPAGT1
HP_GLYCOSURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLYCOSURIA	HNF4A	PAX2	KCNJ11	BLK	NDUFAF6	SLC5A1	GATA6	GCK	ABCC8	SURF1	PIGA	STAT3	VIPAS39	ETFDH	SLC16A12	CEL	CLCN5	ETFA	MT-TN	CTNS	GATM	SLC2A2	EHHADH	PDX1	SLC5A2	TRMT5	APPL1	SLC34A1	NEUROD1	ALDOB	INS	KLF11	HNF1A	PBX1	ETFB	RRM2B	COA8	NSMCE2	GYS2	ATP7B	FAN1	HNF1B	PAX4	LMNA
HP_HYPERLIPIDEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERLIPIDEMIA	PIK3CG	UNC13D	PSMB10	CIDEC	LCAT	ALMS1	NPHS1	YARS1	CFHR3	TMEM43	MC4R	CREB3L3	LDLRAP1	DEAF1	LMNA	STXBP2	SGPL1	LIPA	CETP	MYO5A	FOS	PRF1	CPT2	CFH	CFHR1	PHKA2	ZMPSTE24	BSCL2	SLC29A3	AGL	PDE8B	CAV1	RAB27A	SLC25A13	EMD	AEBP1	HAVCR2	SYNE2	LDLR	ABCA1	DGAT1	SLC37A4	LIPE	PRKAR1A	RSPO1	PDE11A	GLA	SMPD1	CELA2A	POLD1	APOE	FHL1	NSMCE2	GK	ADCY3	ACTN4	PNPLA2	APOB	XRCC4	MCFD2	APOC2	SLC2A2	PSMB9	APOA5	STX11	RAI1	LIPC	FECH	CPT1A	DCAF17	SYNE1	JAG1	SLC7A7	CYP19A1	MTX2	POLR3A	PLIN1	AKT2	XIAP	LMF1	AGPAT2	LPL	ABCG5	PRKACA	NPHS2	PSMB8	WRN	IQSEC2	ABCG8	PIGT	LEPR	PSMB4	PPARG	DEF6	MCM10	FLII	G6PC1	TFG	PIGH	APOC3	ABHD5	TTPA	LMAN1	PYGL	GPD1	PHKG2	PLVAP	LYST	ARMC5	SMARCAL1	FARSA	GYS2	PHKB	LEP	CEP19	DYRK1B	GNAS	CAVIN1	PCSK9	LRP6	GPIHBP1	ALB	CYP7A1
HP_DEFECTIVE_DNA_REPAIR_AFTER_ULTRAVIOLET_RADIATION_DAMAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEFECTIVE_DNA_REPAIR_AFTER_ULTRAVIOLET_RADIATION_DAMAGE	CARS1	DDB2	ERCC4	ERCC3	ERCC2	TARS1	RNF113A	ERCC6	GTF2H5	XPA	XPC	GTF2E2	ERCC5	MPLKIP
HP_HYDROXYPROLINURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYDROXYPROLINURIA	PLOD2	SLC36A2	TNFRSF11A	PRODH	SLC6A20	ALDH4A1	SLC6A18	SLC6A19	TNFRSF11B
HP_INCREASED_URINARY_POTASSIUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_URINARY_POTASSIUM	KCNJ1	GATM	SLC34A1	NDUFAF6	CLCNKA	EHHADH	SLC12A1	BSND	CLCNKB
HP_FRACTURES_OF_THE_LONG_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRACTURES_OF_THE_LONG_BONES	MTAP	SQSTM1	CLCN7	TAPT1	LBR	TBCD	TNFRSF11A
HP_ACROMESOMELIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACROMESOMELIA	KIF15	NPR2	NGLY1	RAC1	GDF5
HP_PREMATURE_OSTEOARTHRITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_OSTEOARTHRITIS	DDRGK1	MATN3	COL11A2	TRAPPC2	COL1A1	KIF22	SLC26A2	FBN1	TRPV4
HP_HAMSTRING_CONTRACTURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAMSTRING_CONTRACTURES	ACTA1	CAPN3	SELENON	DMD	ANO5	FHL1	OPA1	ABCD1
HP_LIMITED_HIP_EXTENSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_HIP_EXTENSION	COMP	DST	FGFR3	KY	CHST3
HP_SEPTIC_ARTHRITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEPTIC_ARTHRITIS	NTRK1	MTHFD1	BTK	C2orf69	CFI	MYD88
HP_SHORT_FEMUR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_FEMUR	CPLANE1	ALG12	POLR3A	FGFR3	AGPS	COL11A1	BHLHA9	PUF60	TAPT1	RNU4ATAC	GDF5	SLC26A2	FLNB	TNFRSF11A	SALL4	AMMECR1	CAMK2A	IHH	COL2A1	TBX4	SUCLG1	TBX15
HP_SLENDER_LONG_BONE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLENDER_LONG_BONE	RAB3GAP2	CDC6	MGAT2	ITCH	CUL7	OBSL1	COL1A2	B3GALT6	TBCE	FIG4	SON	BRF1	PIGT	ATP6V0A2	CDC45	ORC1	FAM111A	HARS1	MAFB	CDT1	PCNT	PIGU	CCDC134	ORC6	POLR3A	COL1A1	MUSK	NSMCE2	ORC4	SCARF2	P3H1	GLE1	PDGFRB	CCDC8	HNRNPH1	NFIX	LARP7	GMNN	FDFT1	VAC14	KCNJ2	RSPRY1	ERCC1
HP_ABNORMAL_CORTICAL_BONE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CORTICAL_BONE_MORPHOLOGY	TAF13	LEMD3	SH3PXD2B	CYP27B1	TCIRG1	STIL	SETBP1	GJA1	ASPM	SASS6	LIFR	NSDHL	WNK1	KNL1	PHC1	COL1A1	CLCN5	MFSD2A	TRAPPC10	HPGD	SCN9A	MCM7	LRP5	PYCR2	CEP152	TMEM53	SLCO2A1	AGA	SOST	CEP135	NF1	FAM111A	CCDC134	TRIM37	SFRP4	FARSB	GLB1	ENPP1	TGFB1	DMP1	METTL5	KIF1A	CENPJ	COPB2	PLEKHM1	FLNA	TBXAS1	KIF14	CDK6	LRP4	MMP2	TENT5A	SLC34A3	GLE1	XYLT2	CYP2R1	PEX19	RETREG1	PTDSS1	CLCN7	AKT1	CEP63	ANO5	WDR62	TNFRSF11A	NCAPD3	TBCE	SMS	MCPH1	CDK5RAP2	TRPV4	PTH1R	CIT	TRAPPC14	PRKG2	VDR	ADAMTS10	FBN1	ANKLE2	MAN2B1
HP_ABNORMAL_CIRCULATING_CHOLESTEROL_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_CHOLESTEROL_CONCENTRATION	CYP11A1	LCAT	ANGPTL3	TMEM43	CREB3L3	LDLRAP1	DEAF1	HTT	TSHB	LMNA	B4GALT1	DLK1	SETX	LIPA	ABCA1	SAR1B	CETP	FOS	RTL1	MYO5B	PSAP	PHKA2	GALNT2	CAV1	IFT172	EMD	OCRL	PIK3R5	SYNE2	LDLR	DGAT1	TMEM199	MEG3	ALG12	MTTP	CCDC115	DHCR7	UBE3B	RSPO1	SMPD1	CELA2A	APOE	FHL1	COG4	KIF12	APOB	PMM2	APOC2	ABCA2	EBP	MEF2A	NUP107	APOA5	RAI1	PANK2	LIPC	CAV3	SYNE1	JAG1	SLC7A7	PPP1R17	ATP6AP1	APOC3	HSD3B7	ALMS1	SLC25A13	LPL	GHR	ATAD3A	ABCG5	APTX	NGLY1	DIO1	PSMB8	IQSEC2	ABCG8	TTC26	PPARG	APOA1	ABCB4	UBR1	SLC2A3	BSCL2	FLII	TDP1	CYP27A1	TTPA	PYGL	TBL1X	MSMO1	PHKG2	PEX12	EPHX2	GALK1	SLC37A4	NSDHL	PHKB	DHCR24	PCSK9	CEP19	FLCN	ALB	DYRK1B	CAVIN1	APOA2	FDFT1	ALG6	LRP6	GPIHBP1	AGPAT2	SC5D	CYP7A1
HP_HYPERPHOSPHATURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPHOSPHATURIA	CDC73	ALDOB	ENPP1	ABCC6	DMP1	SLC34A1	GNAS	COA8	KRAS	PTH1R	SURF1	CTNS	HNF4A	CASR	ATP7B	CLCN5	GCM2	SLC2A2	MT-TN	HRAS	SLC34A3	NRAS	MEN1	EHHADH	SLC9A3R1	OCRL	FGF23
HP_ABNORMALITY_OF_URINE_HOMEOSTASIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_URINE_HOMEOSTASIS	LRP2	MT-ND4	HPRT1	SDHB	ALK	ITGA2B	ARSB	LMX1B	VPS37D	CYP27B1	TRNT1	ACAD9	B2M	SDHD	TREX1	SLC6A19	VHL	GNE	ITGA2	CPT2	SERAC1	TERT	ETFA	AVPR2	MT-ND1	SLC25A20	DNMT3A	MT-TK	GNPTAB	SLC6A20	CDKN1B	APPL1	MAGED2	CLCNKA	CFB	SLC25A4	NAGLU	AGK	GNAS	FMO3	HCFC1	KCNJ5	SMARCA2	LETM1	PUS3	NPHS1	ITGA6	COX16	ATP7B	SLCO1B1	APOA1	SLC25A1	CAMKMT	MAX	HACE1	GP9	UROC1	SLC25A21	VPS33A	NAGA	SLC3A1	CLCN5	GP1BB	HFE	ASS1	MYO1E	BCKDHA	PGK1	SLC25A13	WT1	PRTN3	LYZ	ACADM	VIPAS39	PCCA	CLDN10	HGD	COL4A3	MAFB	FBP1	MTHFR	FKBP6	PHKA1	SLC12A1	VPS33B	CASR	MCCC1	ATAD3A	MT-ND6	RNU7-1	CCND1	MT-ATP6	PAX2	COL2A1	PYGM	OTC	HLCS	KIF1B	SMARCAL1	CDC73	SLC37A4	ACTN4	TRIP13	COL4A1	SGSH	PET117	COL4A5	BRCA2	MPC1	ABCC8	TPRKB	MOCS1	GALT	NNT	PKD1	ASL	OPLAH	SDHA	MMUT	PNP	DGKE	CLCNKB	GNA11	MAN2B1	CRPPA	GNAS-AS1	MT-ND5	CLDN19	TANGO2	GCK	PIGB	PPM1B	NGLY1	FAH	GUCY2D	LAGE3	SLC12A3	GCM2	DDB2	PIGT	FUCA1	PIGA	MT-TL1	SLC36A2	NEUROD1	PIK3CA	CLPB	ERCC2	NUP93	MCCC2	HNF1B	CFTR	SGCB	GK	KCNJ18	PFKM	SLC25A11	INSR	EPAS1	STAT3	KHK	TPK1	TRIM28	UMPS	MEFV	CYP24A1	IDUA	KIRREL1	SLC7A7	ALDH4A1	INF2	BAZ1B	HBB	HAL	OCRL	TK2	ADCY10	DNAJB11	DGUOK	SLC52A2	WDR73	SLC1A1	TIMM50	NPHS2	ETFDH	BSND	EIF4H	PREPL	MMAB	CPOX	DBT	IL17RA	COQ8B	AUH	MMADHC	MT-TF	PDSS2	SLC34A1	AGXT	CD2AP	PHKG2	APRT	MRPS2	SLC22A5	LDHD	MC2R	PRDX1	RYR1	NUMA1	ACSL4	OGDH	PHOX2B	TNFRSF11A	C3	ETHE1	ERCC5	DNASE1L3	ASPA	CBS	SH2B1	STK11	HMOX1	TCN2	ACP5	MMACHC	AMN	GCDH	POLRMT	ANLN	ZNRF3	PRKAR1A	LMNB2	TGFB1	AMMECR1	METTL27	ATPAF2	ADAMTS13	NUP85	INPPL1	H19	NDUFS4	GLA	ABCC2	MT-TH	CLEC7A	AQP2	CTNS	TP53	INS	ARHGDIA	MICOS13	BCKDHB	PTPRO	ERCC8	SLC22A12	UROS	HADH	PEX1	ARG1	SLC16A1	PMM2	SNX14	SCARB2	HIBCH	PDX1	CRB2	POLG	FH	ACVRL1	NUP37	CPS1	BCL7B	LMBRD1	HSD11B2	GCSH	GPHN	IDS	NCF1	TKT	MYCN	CEL	DIS3L2	ANKFY1	CYP11B1	NR0B1	SPP1	NOTCH2	LMAN1	CHUK	DLD	IL1B	UROD	CD46	KRAS	NOS3	LYRM4	ERCC6	MLXIPL	RARA	ERCC4	YRDC	IL17F	ACAD8	NEU1	MOCS2	DPYD	CDKN2C	GSN	HGSNAT	ARSK	REST	NUP160	HLA-DRB1	ALPL	WDR19	PEPD	TBC1D24	KCNJ11	NUP133	GLDC	HMBS	STX16	SGPL1	OSGEP	FGF23	NABP1	DNAJC19	AASS	HSD17B10	G6PD	ATP5F1D	DDOST	MT-CO1	GLB1	OFD1	TSC1	ALDH6A1	FLT1	FKRP	RET	KLF11	ALDOA	RRM2B	SLC6A2	FOCAD	NSMCE2	SDHC	GPC3	HNF4A	SLC7A9	NPM1	HELLPAR	AGGF1	TAFAZZIN	COL4A6	SLC2A2	BUD23	NUP107	LAMB2	FARS2	NFS1	ITGA8	AP2S1	SLC26A1	CD109	GATA3	CUBN	PLCE1	GALK1	MIA3	LIPT1	COL4A4	CORIN	NDUFAF6	SLC5A1	ITGB3	COX14	GCLC	SUGCT	DHTKD1	LPIN2	TTC26	MT-TW	APC	MT-TN	NRAS	FXYD2	ACADVL	DNASE2	MT-ND3	CD59	ATP1A1	EHHADH	GALNS	GYS2	AKR1D1	SLC34A3	APOE	PDP1	SUCLA2	ACAT1	HRAS	MT-CO3	F8	IL17RC	TRMU	SLC25A19	SLC52A1	GLUD1	BTNL2	TBL1XR1	D2HGDH	GUSB	CYP11A1	NDUFA9	WDR4	CFI	IRF2BP2	IFT122	ABCD4	FIP1L1	CYP11B2	OPA3	TMEM67	GATM	IDH1	ACADS	THBD	CFH	HPD	TSC2	SUCLG1	ATP5F1E	SLC25A15	TRIM8	STAT5B	PCCB	BCS1L	PBX1	GALE	HMGCL	SCO1	KCNJ1	SUOX	ALDH5A1	FCGR2A	OXCT1	BLK	YAP1	SLCO1B3	MTX2	STAR	BLVRA	SPRY2	MAGI2	TRAF3IP2	GRHPR	NUP205	TXNRD2	HLA-DPB1	AGA	XPC	SKIC3	ALDOB	FN1	ETFB	COA8	IDH2	ANO5	TAT	TRPC6	MARS1	COQ6	GBA1	TNFRSF11B	SAA1	MT-TS2	ATP6V1B2	CLIP2	XDH	BCOR	MT-TQ	ENPP1	VPS50	PML	TOP2A	SREBF1	SLC2A9	KCNJ10	SPTBN1	PTH1R	GLYCTK	STAT4	NOS1AP	MLYCD	GP1BA	ISCU	TMEM127	COQ2	ALAD	MDH2	PRPS1	MRAP	PGAM2	FGA	GSS	NPHP1	KYNU	DMP1	PRODH	LPIN1	KANK2	PTPN22	ATP6V0A4	MT-TV	UNC45A	CPT1A	PPOX	SPINK5	LIN28B	PHEX	KIF23	RMRP	ELN	FAM20A	FGFR2	SLC18A2	IRAK1	MCEE	NDUFB10	LMO1	SLC5A2	G6PC1	TBC1D8B	NFU1	CDKN1A	MEN1	MUC1	DPYS	ACSF3	HLA-DPA1	BTD	KCNE5	HLA-B	FAN1	P4HA2	TRPV6	PET100	LMNA	PCBD1	AMT	PCK1	DLST	CYC1	TP53RK	ABCC6	ITGA3	CASP10	MOCOS	PKD2	SLC16A12	CLDN16	PHKA2	SLCO2A1	MYH9	MTRR	SLITRK6	HOGA1	SUMF1	GDF2	GTF2IRD1	DBH	GNS	DCXR	MMAA	SMAD4	PAX4	DMD	CLTRN	CDKN2B	SLC34A2	ERCC3	CTLA4	CTH	PLOD1	TMEM70	EMP2	GAPVD1	NT5C3A	FTCD	OAT	APOL1	SARS2	SLC19A2	RFC2	REN	NADK2	POU6F2	TBL2	ATP11C	GEMIN4	F2	NF1	MTR	F5	CD81	GTF2I	CFHR5	SERPINA6	GAA	CA5A	MAF	STX1A	ITGB4	STAT2	DNAJC30	MT-ND2	GATA6	MT-TE	DCDC2	HTRA2	NIPBL	IER3IP1	MVK	SCNN1A	ZBTB16	KARS1	IFT172	L2HGDH	TRMT5	GANAB	ERBB2	XPA	MANBA	KRT18	SERPINF2	DMGDH	FLAD1	CACNA1S	FOXC2	MCFD2	PSTPIP1	GATA1	KCNJ16	SARDH	SLC9A3R1	CTNNB1	HSD3B2	ALG5	IVD	SNAP29	MUTYH	LCAT	PLOD2	LDHA	CASK	KLF6	SURF1	HADHA	SLC6A18	CD320	MT-CO2	RPIA	PEX5	GTF2IRD2	LIMK1	CDKN2A	STOX1	CDKN1C	TMEM270	HNF1A	BICC1	SLC35A1	PIEZO1	ENG	PHKB	F10	CYP2R1	PYGL	SLC13A3	PIK3C2A	IFT140	ZAP70	IL1RN	HADHB	ALG9	IRF1	ARHGAP24	SDHAF2	GABRA3	DAAM2	CYP21A2
HP_ABNORMAL_BLOOD_ION_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_ION_CONCENTRATION	FOXP3	SLC4A1	CYP11B1	CYP11A1	SDHB	CACNA1S	CYP3A4	VPS37D	CYP27B1	IFT122	SDHD	SPATA5	VHL	USP53	CYP11B2	STAT6	PRF1	TERT	AVPR2	GATM	SCNN1G	ADAMTS3	DNMT3A	SETD2	HFE	MAX	PRKAR1A	CDKN1B	TCIRG1	DZIP1L	MAGED2	CLCNKA	CTNS	TRNT1	STEAP3	RET	FAM111A	BCS1L	CASR	ENPP1	CUL3	PBX1	GP1BB	GNAS	FH	SLC39A8	KCNJ5	SKIC2	DBH	ATP7B	RREB1	SLC39A4	KCNJ1	CALM3	CAMKMT	PCBD1	EGF	KCNJ2	KCNQ1	ALG12	HLA-DQB1	WNK4	SLC3A1	MLXIPL	SLC30A10	CLDN10	SLC25A38	GCM2	TBX1	ATP6V0A2	TXNRD2	KCNE2	FKBP6	SLC12A1	KLHL3	SCN4B	FGFR1	TBCE	SKIC3	APC2	ALDOB	SCN4A	KIF1B	CDC73	CHD7	FOXP1	HBB	COL4A3	AP1B1	CLCN2	AQP2	TNFRSF11B	SLC30A9	CLIP2	NNT	ABCB6	SDHA	CYP17A1	SLC26A3	TRPM6	CLCNKB	GNA11	TFR2	CYP2R1	GNAS-AS1	CLDN19	NUP214	BMP6	TNFSF11	COG2	WNK1	KCNJ10	PTH1R	SCNN1B	PPM1B	FAH	PKLR	AP1S1	SLC12A3	TMEM127	GNB2	CLCN5	ALAD	MDH2	MRAP	NOS1AP	SAMD9	SLC40A1	SLC33A1	FARSB	SLC30A2	TBK1	NDUFAF6	DMP1	NSD1	DGCR8	KCNJ18	SLC25A11	INSR	EPAS1	KCNE3	LPIN1	SCNN1A	CLCN7	TRAF3	ATP6V0A4	STAR	CYP24A1	UNC45A	PPOX	GATA3	SLC7A7	TNFRSF11A	COMT	CARD9	POR	BAZ1B	PHEX	HJV	RMRP	ELN	BMP2	HLA-DQA1	PAX2	OCRL	CCND1	ATP6AP1	CACNA1D	NR3C2	SEC24C	HMBS	SLC4A4	SLC5A1	SNX10	BSND	EIF4H	PIGT	CPOX	HAMP	CDKN1A	SLC34A1	CNNM2	NFKB2	ANK2	PLVAP	MEN1	LYST	SNTA1	CACNA1C	MC2R	TBX5	HADHA	RYR1	ELP1	PKHD1	ALG8	UNC93B1	TRIO	AIP	USP8	SCN5A	VDR	EIF2AK3	DLST	ARNT2	NR3C1	ABCC6	IARS1	POLRMT	CP	ZNRF3	COL3A1	PDGFRB	CAV3	RACGAP1	CLDN16	CSF1R	CCBE1	BMPR1A	MT-CO3	FAT4	METTL27	STX16	PREPL	INPPL1	TDP2	COL7A1	SCN10A	KCNN4	TP53	GTF2IRD1	HLA-DRB1	OSTM1	PTH	IRF4	DGCR6	ACADVL	CDKN2B	TIAM1	ALPL	TICAM1	BCL7B	CA12	HSD11B2	NCF1	CALM1	FAM20C	SYK	SLC39A14	UBR1	SARS2	KIF23	GALNT3	NR0B1	RFC2	TBL2	GEMIN4	NF1	KRAS	GTF2I	PIEZO1	PIK3C2A	SERPINA6	PGAP2	CDH23	DSG1	CDKN2C	KCNH2	STX1A	DNAJC30	ESS2	DGCR2	SCO2	FGF23	LAMB3	TSFM	CALM2	HIRA	TLR3	BTK	SLC2A2	TBX19	ALDOA	SLC2A1	ARVCF	FOCAD	SDHC	HNF4A	BUD23	PDE4D	SLC9A3R1	AP2S1	CTNNB1	HSD3B2	LDHA	KCNE1	TMPRSS6	NOTCH3	PIGA	MMP1	LAMC2	KL	ABCD3	CAV1	NAB2	GTF2IRD2	LIMK1	NRAS	DEF6	CDKN2A	FXYD2	ALAS2	AKAP9	CDKN1C	HADHB	TMEM270	ATP1A1	EHHADH	LAMA3	JMJD1C	TRDN	SLC34A3	ORAI1	HRAS	SMAD4	BTNL2	CA2	UFD1	MT-CO1	INVS	SDHAF2	GABRA3	PKD2
HP_ABNORMAL_CIRCULATING_AMINO_ACID_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_AMINO_ACID_CONCENTRATION	PHGDH	ASPA	COX5A	CBS	AASS	ABCD4	MT-ND2	FBXL4	GLYCTK	PAH	PC	MMACHC	GLDC	NGLY1	FAH	GUCY2D	PDHA1	HPD	NOS3	DTYMK	BCKDK	MCCC2	MT-ND1	KARS1	TYMP	TRMT10C	POLG	SLC25A13	UROC1	CPS1	COQ9	PNPLA8	MIPEP	MTO1	MT-ND5	OAT	ARG1	AHCY	LMBRD1	SUCLG1	GNMT	VARS2	COX6B1	PDHX	SLC25A15	MTRR	COX10	HFE	RRM2B	NDUFS4	PRODH	FOCAD	DMGDH	PSAT1	BOLA3	LIG3	UQCRC2	SCO1	GLS	DNM1L	BCKDHB	MCCC1	COX16	LIPT2	GCH1	MMAA	PCBD1	NFS1	ALDH5A1	ADK	MT-TV	SARDH	NR4A2	BCS1L	PTS	ATP5F1A	NAGS	MT-TK	PPM1K	SLC7A7	PCCB	ALDH4A1	OTC	NFE2L2	MRPL3	HAL	GLRX5	GLUL	LIPT1	ASS1	NDUFC2	BCAT2	TMEM70	GCSH	BCKDHA	SLC30A10	GPHN	MICOS13	FTCD	MICU1	APP	NADK2	KYNU	CD320	NDUFA13	MT-TW	SLC19A1	MMAB	DBT	FBP1	TALDO1	PLAU	CTH	MTHFR	NDUFB10	MT-TL1	MMADHC	MT-ND6	NFU1	PSPH	MT-ND3	COX8A	SKIC3	MT-ATP6	MAT1A	MDH1	DLD	MTR	MRPS2	MT-ND4	MRM2	PCCA	PRDX1	TAT	IRF6	SPR	TNFRSF11B	PET117	GAMT	QDPR	PDP1	IMPDH2	SLC25A4	MPO	ASL	TMEM126B	CA5A	MTHFD1	MMUT	TARS2	LYRM7	MRPS14	PNPO	AMT	PCK1
HP_HYPOCHLOREMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOCHLOREMIA	SLC12A1	KCNJ1	SLC26A3	BSND	CLCNKB	CLCNKA	MAGED2
HP_ABNORMAL_EKG	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EKG	SLC1A3	MYL3	TBX20	GNAS	KCNQ1	GATA6	TANGO2	KCNJ5	GAA	PKP2	CALM1	CITED2	SLC12A3	JUP	TNNC1	DNAJC19	CAV3	CALM2	GJA5	DSG2	AKAP9	DYSF	KCNH2	CACNA1C	ANK2	CDKN1B	RAF1	KCNE1	SCN2B	HCN4	MECP2	NOS1AP	DOHH	STX16	CLCNKB	SCN10A	SEMA3A	ATP1A3	SCN5A	SCN1B	KCNJ18	CACNA1S	SCN3B	TNNT2	GYG1	DMD	FXN	GNB5	NPPA	GPC3	DBH	CALM3	TECRL	HADH	MYL2	KCNE2	DCAF17	SLMAP	PRKAG2	ACADVL	CDKN2B	CACNB2	KCNJ2	IRX5	KCNE3	KCNA5	DPAGT1	ATP1A2	BPTF	SLC4A3	SVIL	TRPM4	RANGRF	MYH7	TLL1	GPC4	SLC6A8	GPD1L	MYH6	NKX2-5	PSMD12	GMPPB	CACNA1A	CACNA2D1	SCN4B	BRF1	KCND3	ALPK3	FLNC	TNNI3K	TMEM43	KCNE5	TTR	ACTC1	ALG10B	CDKN1A	CLN3	MEN1	SNTA1	CDC73	TBX5	POLG	TRDN	SCNN1A	ABCC9	PHOX2B	KCNJ8	NEU1	CDKN2C	RYR1	GATA4	CAVIN1	EMD	MT-CYB	GABRA3	SRY
HP_ABNORMAL_CIRCULATING_HORMONE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_HORMONE_CONCENTRATION	CIDEC	CYP11A1	SDHB	FSCN2	SMARCE1	FGF17	CYP3A4	CTSK	PNLDC1	CYP27B1	NLGN4X	POU1F1	GATB	RGR	SHOC1	IDH3A	PRPF4	MC4R	KLHL10	LMNA	VHL	ZFP57	TAF4B	ZMYND15	CYP11B2	OTX2	KISS1R	AIP	AR	STAT6	TERT	NUP107	RNU4ATAC	ZFPM2	PRPF31	HFE	PRKAR1A	FMR1	CDKN1B	APPL1	SLC7A14	PCARE	MAGEL2	POMC	FAM111A	EYS	GNAS	CYP17A1	FH	PSMC3IP	SRY	CNBP	EIF2B3	SMO	SPIDR	EIF2B5	SNRPN	MEN1	CCDC141	WWOX	TPO	GCGR	SLC39A4	BBS2	REEP6	MAX	LGR4	SLC16A1	HYMAI	HNF1A	DCAF17	ADORA2A	KCNJ11	LARS2	INS	PRDM13	FANCM	POLR3A	HS6ST1	BLK	ALMS1	CDH23	ARMC5	ARL3	KIAA0753	CYP11B1	DUSP6	IMPG1	IYD	ABCC8	C14orf39	USP8	RP2	CLRN1	BAP1	GCM2	LEPR	WT1	TXNRD2	EPO	AGBL5	CRB1	CASR	MCM9	WDR11	DUOXA2	IGFALS	GPR101	CCND1	FOXL2	EIF2B4	PRPH2	SDHD	MECP2	NF2	LHX3	COL2A1	RPE65	TEX11	NR5A1	CDC73	NDNF	ANOS1	SPRY4	MSH5	TTC8	PDE4D	MPI	GNRHR	NNT	PNPLA6	USP48	CTDP1	CAVIN1	LEP	EPAS1	ESR1	SDHA	DHDDS	NDN	ATRX	NR2E3	GNAS-AS1	DMRT3	BMP6	GCK	SPATA7	SNORD115-1	TULP1	SNRNP200	MCOLN1	PWRN1	TMEM127	GHR	SMARCB1	ARHGEF18	IGF1R	MDH2	PDE8B	NR0B1	TG	PWAR1	SEMA4A	MRAP	PDE6A	ALG12	NEUROD1	EIF2B2	GATA4	MADD	PROP1	NRL	SLC25A11	INSR	NSMF	THRB	USH2A	ROM1	AIRE	FSHR	KIF1B	STAR	TBCE	CA4	TBX1	ZNF513	DHX37	RP1L1	RLBP1	SIM1	POR	PHEX	FSHB	OCA2	FAM20A	GNRH1	CCDC34	AKT2	RBM28	BEST1	NANOS1	FIGLA	SYCE1	IMPDH1	HFM1	KLHL7	TRAF7	PROK2	PRPF8	PRKACA	FEZF1	DAXX	ZSWIM7	SECISBP2	IGF1	IL17RD	MCTP2	BSCL2	FGF8	RNF125	CDKN1A	AHI1	NFKB2	OCRL	KIZ	NR2F2	MERTK	SDHC	MC2R	THRA	CRX	SEMA3A	B4GALNT1	TOPORS	DUOX2	PCSK1	PDE6B	PROKR2	POLA1	IFT140	TRPV6	FOXA2	MPDU1	GALT	CAV1	MAK	XRCC2	HADH	CLDN19	VDR	POMGNT1	DLST	HSD17B4	HNF4A	ADAT3	NR3C1	CERKL	RP1	FAM161A	ZNRF3	TSHB	GUCA1B	MKRN3	CHD7	DHH	FOS	CLDN16	ZMPSTE24	FGD1	PRPF6	MRPS22	SOX3	AVP	SLCO2A1	GCNA	DCC	SCAPER	SOST	TUB	RET	TSHR	RDH12	PLAGL1	TP53	STX16	QRSL1	TDRD9	AMH	IMPG2	WNT4	TRHR	SIK3	HPGD	ADCY3	PAX8	STAT5B	DBH	UCP2	PTH	KISS1	PRPF3	RBP3	PAX4	PMM2	PDE6G	LHCGR	PDGFB	CDKN2B	PDX1	TEX14	CPE	KIAA1549	HTR1A	ESR2	IFT172	HSD11B2	TEX15	ABCA4	GDF9	NEK2	ABCD1	CEL	RP9	PPARG	LHX4	GLI2	AKT1	OFD1	EIF2B1	YY1	TBL1X	CLN3	NF1	BMP15	POLR3H	TACR3	PROM1	PLIN1	GALK1	SLC34A1	TAC3	MCM8	MED12	CDHR1	FLRT3	HERC2	DIAPH2	SH2B1	SERPINA6	SOX9	DMXL2	GH1	CDKN2C	ALG6	ARL6	CYB5A	BMPR1B	LRAT	NPAP1	IFT88	MAFA	CNGA1	CNGB1	PIK3CA	GLUD1	BNC1	SNORD116-1	TBX19	GLI3	IRS4	SYCP3	VAMP7	CCDC134	PRCD	KLF11	PDE11A	HESX1	NLGN3	CFAP418	SMPD1	FOCAD	BRAF	MSH4	NSMCE2	FN1	SOHLH1	GATC	NHLH2	BBS1	CBX2	ARL2BP	SLC5A5	SHROOM4	CTNNB1	ZNF408	HSD3B2	STAG3	MAP3K1	BANF1	SAG	AGPAT2	LIPE	DIO1	KL	SUFU	PAPPA2	NAB2	ERCC6	ALG8	FGFR1	AMHR2	HGSNAT	USP9X	RHO	CDKN2A	PPP2R3C	IDH3B	MEIOB	DHX38	FKBP6	TRMT10A	LHB	SOX10	AAAS	PGM1	CYP2R1	KCNJ18	GHSR	DIS3L2	GHRHR	CFTR	SLC34A3	RPGR	AHR	SDHAF2
HP_INCREASED_CIRCULATING_CORTISOL_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_CORTISOL_LEVEL	TP53	RET	NR3C1	HTR1A	PRKAR1A	PDE8B	MEN1	PDE11A	ARMC5	GNAS	CYP11B1	BRAF	ATRX	PRKACA	ZNRF3	USP8	CYP11B2	AIRE	CDH23	TERT	KCNJ11	USP48	CDKN2A	CDKN2C	CDKN1B	CDKN2B	CTNNB1	POR	CDKN1A
HP_ABNORMAL_CIRCULATING_LIPID_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_LIPID_CONCENTRATION	CIDEC	CYP11A1	VPS37D	ABCD4	YARS1	ACAD9	MC4R	DEAF1	HTT	DLK1	LMNA	LIPA	SAR1B	RTL1	CPT2	CFH	PRF1	PSAP	GATM	SLC25A20	RAB27A	ACADS	MT-TK	PEX10	CTNS	CCDC115	DHCR7	PEX26	ZMPSTE24	SPIB	CELA2A	PEX3	FHL1	SCO1	PEX1	COX16	KCNJ1	PANK2	HNF1A	DCAF17	PNPLA2	CYP19A1	MTX2	POLR3A	CPT1A	MLXIPL	ALMS1	HSD17B4	SLC25A13	GHR	PEX5	ABCC8	ACADM	AMACR	LEPR	FKBP6	FLII	SLC12A1	CYP27A1	IL12RB1	PEX6	ABHD5	TTPA	MSMO1	PEX12	ABCA1	SMARCAL1	SLC37A4	FARSA	PHYH	RAI1	TDP1	IL12A	APOB	MTTP	CEP19	PEX2	CLIP2	PLA2G7	CAVIN1	HMGCL	ALB	MT-TE	POU2AF1	LCAT	NPHS1	TANGO2	GLYCTK	CFHR3	UNC13D	STXBP2	MYO5A	CFHR1	KCNJ11	GALNT2	LTC4S	PDE8B	MT-TL1	ALG12	PRKAR1A	UBE3B	ABCD1	GK	COG4	MEG3	XRCC4	LIPC	CAV3	ACAD8	SYNE1	SLC7A7	CCT5	PLA2G4A	BAZ1B	ACOX2	ELN	AKT2	ATP6AP1	LMF1	LPL	ATAD3A	ABCG5	APTX	SMPD1	NADK2	MCEE	NPHS2	WRN	ABCG8	EIF4H	PIGT	APOA1	AP1S1	PEX11B	BSCL2	MCM10	PEX14	G6PC1	APOC3	OCRL	PLVAP	NSMCE2	PHKG2	LYST	ARMC5	SLC22A5	LDLRAP1	PCSK9	LEP	FLCN	APOA2	CAV1	FDFT1	ETHE1	GPIHBP1	TRMU	ANGPTL3	TMEM43	CREB3L3	TSHB	FOS	MYO5B	MCCC2	PHKA2	PEX13	EMD	HAVCR2	SYNE2	METTL27	AR	RSPO1	GLA	COL7A1	POLD1	ADCY3	GTF2IRD1	PMM2	APOC2	PEX19	UCP2	PSMB9	FBN1	ABCA2	EBP	MEF2A	HADH	SLC34A1	JAG1	ACADVL	STX11	PLIN1	MMACHC	BCL7B	XIAP	PNLIP	LMBRD1	HSD3B7	NCF1	PEX7	NGLY1	APOA5	PSMB8	IQSEC2	PPARG	ABCB4	UBR1	PEX16	TFG	RFC2	PIGH	TBL2	LMAN1	PYGL	TBL1X	DLD	NUP107	EPHX2	GALK1	GTF2I	TNPO3	DOLK	PCYT1A	DYRK1B	TNFSF15	AGL	ALG6	LRP6	STX1A	CYP7A1	PIK3CG	PSMB10	DNAJC30	B4GALT1	SGPL1	SETX	CETP	LMNB2	SLC29A3	IFT172	AEBP1	PIK3R5	LDLR	DGAT1	LIPE	TMEM199	PDE11A	APOE	KIF12	DNM1L	ACTN4	MCFD2	SLC2A2	BUD23	IRF5	FECH	PPP1R17	NDUFAF6	AGPAT2	HADHA	PRKACA	MMP1	MMEL1	DIO1	TTC26	PSMB4	GTF2IRD2	LIMK1	DEF6	SLC2A3	HNF4A	TMEM270	GPD1	EHHADH	NSDHL	GYS2	PHKB	DHCR24	GNAS	SLC52A1	HADHB	TBCK	SC5D
HP_LIMB_JOINT_CONTRACTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_JOINT_CONTRACTURE	NLRP3	BCOR	FKRP	CHRNG	KAT6B	HLA-DRB1	CTCF	PI4KA	GJB2	HS2ST1	HES7	POMT1	ZBTB20	LMNA	TP63	SHH	IDS	ACTA1	FLNA	CASZ1	COL11A1	FBN1	FKTN	IPO8	BMP4	OPA1	NEFL	SPG11	ORC1	ADAMTS3	FBXO28	SETD2	EXTL3	F8	PDX1	PLOD1	RYR1	KIAA0319L	SGCG	PIGL	FZD2	CDT1	COL11A2	MEGF8	ASXL1	UBA1	HSPG2	FBXW11	TCTN3	ZC4H2	SLC26A2	FHL1	SLC39A8	TGDS	ATP6V1E1	MMP2	DMD	MECP2	MBTPS2	TGFBR2	CCN2	ZMPSTE24	ERCC4	MED12	GJA1	NALCN	COL6A1	TPM2	ALG3	SKI	UNC80	KRT1	KDM5B	PIEZO2	DPM1	ZNF407	ORC4	MUSK	TUBA1A	JAG2	BIN1	MYH3	GFM2	POLR3A	TRPV4	CDC6	SLC35A3	DDR2	ZDHHC9	TNNI2	REEP1	ERCC5	DHODH	COL6A2	ERLIN1	NT5C2	MECR	NSUN2	TOR1AIP1	TBX3	KRT16	SPTLC1	PRG4	ERGIC1	PRDM16	SPEG	SH3PXD2B	PPP2R5D	MKS1	MYL2	IL6ST	ASXL3	TRIM2	HRAS	APC2	RTL1	PDPN	ATR	ANO5	PMP22	COL6A3	ABHD12	BCAS3	HACD1	BICD2	GJB1	ERCC6	MESP2	MYBPC1	PEX6	NUP107	LAMA2	ROR2	B3GALT6	PAX3	KDM5C	IGHMBP2	SOX9	RNU4ATAC	SNAP25	TWIST2	MYL1	DHX16	SEPSECS	DLL3	PTH1R	MYO9A	ABCC9	CUL4B	EZH2	LAGE3	SPRTN	GABRD	TNNT1	SPTBN4	PTDSS1	MORC2	RTTN	GNB2	ALAD	CCR6	NAA10	ERCC8	KLHL9	GRIN1	MAFB	OSGEP	CSGALNACT1	NSD1	PIGA	HEXB	ALX3	SCARF2	PITX1	KRT9	GPC3	CHST3	PIGY	ITGB4	TBX15	LMBR1	DAG1	PTRH2	KIF22	SELENON	MMP23B	ALS2	SYNE1	MT-TE	POR	POLR3GL	ERCC1	SVIL	ALDH18A1	CLCF1	DOK7	COL2A1	CHRNB1	GPC4	TPM3	WDR73	PHF6	SDHAF1	ERLIN2	RSPO2	SLC25A19	WDR26	CCN6	SIGMAR1	MAP3K7	COL17A1	TBC1D2B	COL25A1	CAV1	DYRK1A	NXN	ITGA7	FGFR3	SLC29A3	LBR	LFNG	TLK2	SDHD	IRF5	MYH7	TUBB3	UROS	CNTNAP1	SNRPB	AMER1	FDFT1	VARS1	FLVCR1	ANKLE2	EMD	P4HTM	IKBKG	HOXD13	EIF5A	ADAT3	MAP3K20	RPL10	CFL2	TMEM43	COG5	KIF5A	MEGF10	MYOD1	EXOC6B	GLI3	CDH3	MEG3	PLEC	CCBE1	GPKOW	TTN	RBM28	FAT4	IGF2	TGFBR1	SPEN	OCRL	SLC12A6	SYNE2	ECE1	DVL3	XYLT1	SGCA	SMG9	PNPT1	ORC6	SLC18A3	SIK3	WNT5A	BAG3	SMOC1	SLC39A13	EFNB1	H4C9	CPT2	GNS	TRPS1	SRD5A3	OTUD6B	MYL11	WNT7A	COL12A1	FBN2	ECEL1	DSP	KY	GMPPB	CTDP1	TMEM70	PSAT1	RARS2	TNNT3	CRPPA	SMAD3	TPRKB	ERCC2	COL7A1	NGLY1	SUZ12	CANT1	NUP88	CRKL	PSMB8	ABCD1	GDAP1	BRF1	IDUA	SLC6A9	SMC1A	LUZP1	FUS	GARS1	L1CAM	DLK1	ARPC4	SLC1A4	WDR4	PORCN	TGFB3	CNTN1	PIK3R2	KCNAB2	PIGN	GMNN	PHGDH	TFAP2A	MAPK1	PQBP1	SMARCAD1	ADAMTSL2	AUTS2	LIFR	NOD2	ESCO2	JUP	SLC10A7	DVL1	TBX2	KCNJ11	NUP133	GFPT1	RERE	STAT3	BCR	NIPBL	ALG2	ANTXR2	RAB3GAP1	SLC39A14	RAB23	TELO2	FKBP10	ATP5F1D	C18orf32	SLC35A2	ABCC8	PRKCZ	SDHB	UPF3B	TMEM222	NOG	EMG1	PYCR1	GDF5	TOR1A	FGD1	ALX1	DDHD2	EED	PLEKHG5	CRLF1	PYROXD1	CAPN3	GCK	KMT2B	DPAGT1	GJB6	LGI4	FIG4	GNPTAB	PLOD2	MYOT	TP53RK	LMBRD2	MMP1	C19orf12	CADM3	RMRP	HINT1	UBE4B	FERMT1	SLC25A46	SCYL2	PEX5	SDHA	PLOD3	CDC45	PSTPIP1	ACTG2	SYT2	LAMB3	INS	KCNK9	ARID1B	PEX1	SIN3A	RIPPLY2	TBR1	TMEM218	ALG14	B3GAT3	ARX	RAPSN	DHCR24	MED25	PIK3C2A	SLC25A4	LARGE1	LMX1B	KRT14	NEB
HP_HYPERCHOLESTEROLEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERCHOLESTEROLEMIA	ATP6AP1	SLC25A13	LPL	ABCG5	CREB3L3	LDLRAP1	DEAF1	APTX	TSHB	DLK1	LMNA	DIO1	SETX	LIPA	CETP	FOS	CAV1	RTL1	IQSEC2	MYO5B	ABCG8	TTC26	PHKA2	PPARG	ABCB4	IFT172	BSCL2	OCRL	FLII	PIK3R5	TDP1	LDLR	APOC3	DGAT1	TMEM199	MEG3	CCDC115	TTPA	PYGL	TBL1X	RSPO1	PHKG2	NUP107	GALK1	APOE	SLC37A4	COG4	GHR	RAI1	PHKB	KIF12	APOB	PCSK9	APOC2	CEP19	MEF2A	ALB	DYRK1B	LIPC	CAV3	CAVIN1	JAG1	SLC7A7	AGPAT2	CYP7A1
HP_LOW_MOLECULAR_WEIGHT_PROTEINURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_MOLECULAR_WEIGHT_PROTEINURIA	CLCN5	OCRL	CTNS	GATM	SLC34A1	NDUFAF6	EHHADH
HP_HYPOCALCIURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOCALCIURIA	FXYD2	AP2S1	FAM20A	SLC12A3	PHEX	CLCNKB	GNA11	CLDN10	CASR	KCNJ10
HP_LACTIC_ACIDOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACTIC_ACIDOSIS	CYC1	MT-ND4	WARS2	NDUFB10	TRNT1	GATB	NDUFS6	FBXL4	ACAD9	PC	MT-CYB	MT-ND6	PDHA1	TKFC	SERAC1	PLPBP	PHKA2	ALDH7A1	TRMT10C	POLG	COQ8A	MT-ND1	MT-TC	MIPEP	SUCLG1	ETHE1	VARS2	COX6B1	ATP5F1E	PDHX	QRSL1	PREPL	SLC25A4	NDUFS4	MT-CO3	PDHB	BCS1L	MT-TH	AGK	NDUFB7	MT-TL1	BCKDHB	COX16	NDUFAF5	LIPT2	PDP1	AARS2	UQCRFS1	CAMKMT	HADH	NUBPL	DLAT	NDUFAF8	PCCB	YARS2	SDHD	MT-CO1	FH	LRPPRC	SLC3A1	NDUFS2	TMEM70	BCKDHA	SLC25A13	SFXN4	NDUFA4	NDUFS7	SLC25A19	MT-TV	EARS2	GTPBP3	MT-ND5	RMND1	FBP1	SCO2	NDUFA11	NDUFA6	NDUFAF6	NDUFA1	NSUN3	MRPS16	NADK2	MT-TK	MT-TT	DLD	ALDOB	COA8	SLC37A4	NDUFV2	MT-TS2	PCCA	LYRM4	MT-TW	NDUFS8	MARS1	NDUFB9	MPC1	LARS1	SLC25A26	MRPS7	CA5A	RYR1	MT-TQ	MT-TE	NDUFB3	FOXRED1	PUS1	NDUFAF2	TANGO2	PPM1B	NAXE	MLYCD	NDUFS3	TSFM	NDUFV1	ISCU	COA6	COQ2	HSD17B10	TYMP	ATP5F1D	COQ9	MT-ND3	PNPLA8	TIMMDC1	MTO1	TRMT5	COX10	RRM2B	TMEM126B	NDUFA10	IBA57	BOLA3	LIG3	MT-TF	ELAC2	DNM1L	GATC	TAFAZZIN	TPK1	UQCC2	FARS2	SLC25A3	GFER	NDUFAF1	NDUFS1	MT-ND2	LONP1	LIPT1	TK2	TUFM	DGUOK	MICOS13	SURF1	HADHA	MT-CO2	SQOR	UQCC3	LARS2	MT-TN	DBT	G6PC1	MPV17	PDSS2	PMPCA	NFU1	COX8A	PHKG2	MRPS34	NDUFAF3	SDHA	PHKB	LIAS	PYGL	NDUFB11	SUCLA2	NDUFAF4	OGDH	SLC25A42	USP18	TRMU	SLC52A1	PET100	HADHB	LYRM7	MRPS14	PCK1	NDUFA8
HP_ABNORMAL_PERIPHERAL_MYELINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PERIPHERAL_MYELINATION	SOX10	SLC12A6	DHX16	MT-ND2	ARSA	MPZ	KCNJ10	SPTBN1	GDAP1	FA2H	DHH	MORC2	GBF1	NDRG1	MT-ND1	SPG11	NEFL	PNPT1	TYMP	LMNA	POLG	ERCC8	EGR2	KLC2	GNB4	PMP2	MT-ND5	PMP22	ABCA1	MTTP	PSAP	MME	COQ7	RRM2B	SPTLC1	MTRFR	PLEKHG5	UBTF	DNMT1	SH3TC2	PRX	SACS	LIG3	GALC	RAB7A	RAI1	PLP1	SUMF1	SBF2	GCDH	MT-TV	GAN	INF2	MTMR2	HSPB8	MT-TK	MFN2	ARHGEF10	VPS13A	ASXL1	DCAF8	FIG4	LRPPRC	FLRT1	MMACHC	WNK1	HK1	LMNB1	APTX	KIF1C	PRPS1	FGD4	NTRK1	SBF1	DNM2	MT-TW	HYCC1	SURF1	MT-TL1	MPV17	PEX16	TRIM2	TFG	MT-ND6	MT-ND3	RETREG1	MT-ATP6	HACE1	MAT1A	JPH1	LITAF	MT-ND4	SCN9A	ERCC6	TYROBP	ZNHIT3	TWNK	COX6A1	ELP1	MOCS1	KIF1B	KIF1A	CTDP1	MOCS2	NGF	GJB1	FLVCR1
HP_CYSTINURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CYSTINURIA	PREPL	PPM1B	AASS	SLC7A9	SLC3A1	CAMKMT
HP_ABNORMALITY_OF_THE_SPINOCEREBELLAR_TRACTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_SPINOCEREBELLAR_TRACTS	RRM2B	GCLC	ATXN3	ATXN1	ATXN2	GJB1	RNASEH1	TDP1	MAN2B1	PLP1
HP_PROLINURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLINURIA	OPLAH	PRODH	SLC36A2	SLC6A20	ALDH4A1	SLC6A18	SLC6A19
HP_PANHYPOGAMMAGLOBULINEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANHYPOGAMMAGLOBULINEMIA	DCLRE1C	SKIC2	ERCC3	ERCC2	TARS1	BTK	RNF113A	ZAP70	RFX5	IL21R	MPLKIP	SKIC3	RAG1	CARS1	RAG2	RFXAP	RFXANK	SP110	GTF2H5	IGHM	CIITA	JAK3	GTF2E2
HP_INCREASED_LDL_CHOLESTEROL_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_LDL_CHOLESTEROL_CONCENTRATION	PPP1R17	LCAT	SMPD1	CELA2A	EPHX2	SLC25A13	LPL	GHR	APOE	ABCG5	FHL1	TMEM43	LDLRAP1	LIPA	APOB	ABCG8	LMNA	CEP19	ABCA2	ALB	DYRK1B	APOA2	EMD	SYNE1	SLC7A7	SYNE2	PCSK9	LDLR	LRP6	CYP7A1	TMEM199	CCDC115	TTPA
HP_INCREASED_SERUM_SEROTONIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_SERUM_SEROTONIN	SDHD	MEN1	NLGN3	NLGN4X	CDKN2C	SHROOM4	CDKN2B	ATRX	CDKN1B	SNRPN	MECP2	CDKN1A	DAXX
HP_DECREASED_ADENOSYLCOBALAMIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_ADENOSYLCOBALAMIN	PRDX1	MMADHC	MMAB	MMAA	LMBRD1	ABCD4	MMACHC
HP_HYPOCHOLESTEROLEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOCHOLESTEROLEMIA	MTTP	MSMO1	PSAP	FLCN	UBE3B	HSD3B7	PEX12	ABCA1	ATAD3A	APOB	FDFT1	SAR1B	DHCR7	ALG12	PMM2
HP_ELEVATED_SERUM_ACID_PHOSPHATASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_SERUM_ACID_PHOSPHATASE	CLCN7	OCRL	PSAP	CA2	TNFRSF11B
HP_HYPERURICOSURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERURICOSURIA	ALDOB	SLC22A12	GATM	SLC34A1	NDUFAF6	PRPS1	SLC2A9	EHHADH	HPRT1
HP_GLUTARIC_ACIDURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLUTARIC_ACIDURIA	GCDH	SUGCT	ETFA	D2HGDH	ETFDH	ETFB	DNAJC19	HMGCL
HP_INCREASED_CIRCULATING_ACTH_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_ACTH_LEVEL	CDH23	TP53	NR3C1	CYP11A1	CYP11B1	POR	USP48	BRAF	MC2R	ATRX	AIP	USP8	MRAP	DAXX
HP_HYPEROXALURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPEROXALURIA	AGXT	SLC26A1	PEX1	GRHPR	HOGA1
HP_FASTING_HYPOGLYCEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FASTING_HYPOGLYCEMIA	TBX19	PHKG2	KCNJ11	INSR	GRB10	SLC1A1	GCDH	GYS2	ABCC8	PHKB	SECISBP2	IARS2	SLC2A2	PHKA2	FBP1	SLC25A20	HNF1A	HNF4A	G6PC1	IGF2	PCK1
HP_ELEVATED_URINARY_DELTA_AMINOLEVULINIC_ACID	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_URINARY_DELTA_AMINOLEVULINIC_ACID	PPOX	FAH	HMBS	CPOX	HFE	ALAD
HP_HYPOTHALAMIC_GONADOTROPIN_RELEASING_HORMONE_DEFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOTHALAMIC_GONADOTROPIN_RELEASING_HORMONE_DEFICIENCY	FGFR1	PROKR2	HESX1	IL17RD	CCDC141	PROK2	FGF17	ANOS1	SOX10	HS6ST1	SEMA3A	NDNF	DCC	CHD7	DUSP6	TACR3	SPRY4	FGF8	WDR11	FLRT3	FEZF1
HP_ELEVATED_CIRCULATING_PARATHYROID_HORMONE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CIRCULATING_PARATHYROID_HORMONE_LEVEL	STX16	GNAS-AS1	CDC73	GNAS	CYP3A4	CYP27B1	CASR	KL	CYP2R1	PDE4D	PRKAR1A	GCM2	CLDN16	MEN1	SOST	CDKN1B	NF1	VDR	PHEX
HP_ABNORMAL_ACETABULUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ACETABULUM_MORPHOLOGY	HYAL1	RNU4ATAC	ARSB	COL2A1	MATN3	CSGALNACT1	CENPJ	TRIP11	UFSP2	FGFR2	GPX4	NANS	AP4B1	RAB23	IFT52	HOXA11	FKBP10	CANT1	EIF4A3	EXTL3	TRPV4	GNPTAB	SLC26A2	MYO18B	DYNLT2B	AP4M1	INPPL1	FGFR3	SERPINF1	COL1A1	TONSL	TIMM22	DYNC2H1	MMP2	CHD4	COMP	RINT1	WDR35	DYM	LAMA5	AP3B1	VPS33A	POLR1A	HSPG2	COL10A1	ERCC1	PTH1R	PLOD1	NRCAM	SLC35A3	SMAD3	BGN	CHRNG	COL1A2	SCYL2	ERGIC1	B3GALT6	CCN6	XYLT1	TGFB2	GLB1	COL25A1	KIAA0586	SLC35D1	GATA1	CSPP1	COG1	AP4E1	GUSB	FBN1	SMARCAL1	IFIH1	TMEM251	AP4S1	TGFBR2	DYNC2I1	FLNB	CRTAP	EVC2	FIG4	TBX4	CEP120	ARSK	EVC	TMEM67	WDR19	RPS15A
HP_ABNORMALITY_OF_THE_PUBIC_BONE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PUBIC_BONE	FRAS1	KAT6B	HLA-DRB1	HSPG2	MATN3	SETBP1	GRIP1	CCN2	LETM1	CUL7	FGFR2	ABCC9	COL2A1	CCR6	RNU4ATAC	CAV1	GSC	INTU	KIAA0319L	RUNX2	NSD2	SMAD4	INPPL1	SIK3	DYM	FLNA	IRF5	GJB2	PIGG	CCDC8	TBX15	COL11A2	OBSL1	CPLX1	NKX3-2	FIG4	HNRNPR	NELFA	WNT7A	CTBP1	FREM2	ATP7A	GJB6
HP_ABNORMALITY_OF_THE_ISCHIUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ISCHIUM	CDCA7	INPPL1	KAT6B	HLA-DRB1	HSPG2	CCR6	IRF5	LIFR	IFT43	CCN2	TRIP11	CUL7	FGFR2	CCDC8	COL11A1	TBX15	COL11A2	ABCC9	OBSL1	ALG9	CAV1	EXTL3	TMEM53	KIAA0319L	PAM16	COL2A1
HP_HYPOPLASTIC_ISCHIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_ISCHIA	COL11A2	CDCA7	ABCC9	OBSL1	INPPL1	KAT6B	HSPG2	IFT43	TRIP11	CUL7	PAM16	FGFR2	COL2A1	CCDC8	COL11A1	TBX15
HP_SQUARED_ILIAC_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SQUARED_ILIAC_BONES	RNU4ATAC	INPPL1	PTH1R	NEPRO	AEBP1	MATN3	PLCB3	LONP1	TRPV4	CEP120	HSPG2	PAM16
HP_PROTRUSIO_ACETABULI	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROTRUSIO_ACETABULI	TGFBR2	FKBP10	SMAD3	TGFB2	CRTAP	SERPINF1	COL1A1	FBN1	COL1A2	HSPG2	MMP2	PLOD1
HP_FLAT_ACETABULAR_ROOF	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLAT_ACETABULAR_ROOF	TRPV4	INPPL1	COG1	FGFR3	MATN3	BGN	CSGALNACT1	COMP	TRIP11	TMEM251	FLNB	XYLT1	GPX4	NANS	COL2A1	CHD4	IFT52	FIG4	CANT1	WDR35	GNPTAB	DYM	CEP120	SLC26A2	SLC35D1	PTH1R
HP_SHALLOW_ACETABULAR_FOSSAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHALLOW_ACETABULAR_FOSSAE	GNPTAB	IFIH1	RNU4ATAC	UFSP2	RAB23	SMARCAL1	HOXA11	TBX4	GATA1	TONSL
HP_WIDE_PUBIC_SYMPHYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDE_PUBIC_SYMPHYSIS	DYM	FREM2	FRAS1	RUNX2	HNRNPR	GRIP1
HP_DECREASED_HIP_ABDUCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_HIP_ABDUCTION	NFIX	PIEZO2	CHST3	MATN3	TNNT1	TPM2
HP_SHORT_GREATER_SCIATIC_NOTCH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_GREATER_SCIATIC_NOTCH	FGFR3	GPC4	GPC3	SLC26A2	TRPV4
HP_INVERTED_NIPPLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INVERTED_NIPPLES	ALG12	HNRNPK	MAN1B1	STT3A	WASF1	B4GALT1	INTU	PIGT	RERE	MEG3	PEX3	TCF20	DEF6	SRD5A3	SOX6	C18orf32	SLC35A2	ALG11	SET	CACNA1C	RTL1	WAC	RFT1	DPAGT1	LBR	DLK1	EZH2	ALG3	ATN1	NFIX	TBX3	TWIST2	EBF3	ALG9	ALG2	SLC25A46	KAT6A	ACOX1	ALG8	BICRA	MGAT2	PMM2	COG7	KMT2B	DPM1
HP_BREAST_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BREAST_HYPOPLASIA	GNRH1	HS6ST1	TWIST2	CCDC141	PROK2	FGF17	IKBKG	TP63	CHD7	ESR1	DUSP6	FGF8	YY1	FEZF1	FGFR1	IL17RD	SEMA3A	DCC	WDR11	KISS1R	SPRY4	HESX1	USP9X	TACR3	SOX10	TBX3	TAC3	CDT1	NDNF	ORC4	ORC1	ANOS1	NSMF	ORC6	FLRT3	EFNB1	PROKR2	GNRHR	POC1A	KISS1	ANTXR1	MAF	FSHB	NIN
HP_LONG_NOSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_NOSE	PIGU	SOX18	GJA1	TWIST1	SETD2	GABRA3	OPHN1	ACTB	NOG	SPATA5	FGFR2	PIEZO2	AP1S2	SRCAP	RECQL4	SMG9	POLE	PIGS	THOC6	NBN	ZMYM2	SCUBE3	RNU4ATAC	AP4E1	ASXL3	XRCC4	EXTL3	NEXMIF	JAG1	SLC9A6	ACTG1	SOX11	ZBTB18	ABL1	NOTCH2	MED12	SATB2	KAT6B
HP_CLEFT_ALA_NASI	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLEFT_ALA_NASI	PORCN	FREM2	FRAS1	ALX4	GRIP1
HP_ALLERGIC_RHINITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALLERGIC_RHINITIS	IGKC	CARMIL2	SLC27A4	COX4I2	CDSN	PGM3	MS4A2	SIK3	IL4R	PLCG2	SPINK5	KRT74	IGHG2	PLA2G7
HP_SHORT_NOSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_NOSE	LRP2	MEF2C	MN1	IARS2	VPS37D	TMCO1	CTCF	ARSL	DEAF1	GPC4	ZNF699	COL11A1	PURA	SMARCB1	CANT1	KRAS	EXTL3	FZD2	SPOP	ATP6V1A	SPECC1L	DPM2	ZMPSTE24	COX7B	TCTN3	GLI3	RSPRY1	LONP1	DISP1	SMARCA4	FBN1	TBL1XR1	TAPT1	WAC	GJA1	BMP2	STAMBP	SMC1A	DNMT3B	NFIX	CD96	ARID1B	HOXB1	YARS2	DSE	FLNA	CREBBP	NRCAM	CDCA7	MLXIPL	LMNB1	DVL1	NARS2	PLCB3	PIGN	HSPA9	PPP2R5D	TCF20	PIGF	BPNT2	EHMT1	PTH1R	FKBP6	AGA	FLII	NCAPG2	ATAD3A	ASXL3	PAX3	KMT2A	POLR1A	ARID1A	TRIO	GRIN2A	FOXP1	KIF1A	RAI1	NALCN	PIGO	PDE4D	POU1F1	SLC2A10	RECQL4	COL11A2	CLP1	CLIP2	MOCS1	USB1	DHCR24	PTEN	TRRAP	GPC6	FGFR2	ZNHIT3	SMARCD1	ROR2	SC5D	IL1RAPL1	FGFR1	RAD21	RNF13	SPTBN1	MAF	KIF7	ZBTB24	ADNP	GNB2	MIR140	RIPK4	PAFAH1B1	GMNN	FOXG1	SOX11	SYT1	ZIC2	UBE3B	HIC1	EFTUD2	MADD	WNT5A	MPLKIP	DDB1	GPC3	SIX3	FLNB	PIGT	TRMT10A	COG7	BAZ1B	AFF4	ELN	CCDC22	DVL3	POLA1	RPS7	FUT8	PRKAR1A	ACTB	KCNJ11	FLI1	SON	FOXH1	PGAP3	EIF4H	B3GALT6	NAA10	HUWE1	PUS1	NXN	PAM16	DCPS	SMARCE1	ZNF462	SMARCA2	GGCX	NFIA	ZPR1	TRIP11	HRAS	VARS1	NRAS	ERCC2	PHIP	BRD4	ADAT3	TGIF1	WNT7A	SHOC2	MYMX	HDAC6	SUFU	RAB18	FGD1	AVP	ECE1	METTL27	MBD5	HDAC8	INPPL1	ADSL	TONSL	COL2A1	SMOC1	GTF2IRD1	EDA	PAK3	TCTN2	NODAL	CEP57	TMEM94	PRPS1	MAP2K2	TBC1D20	PAICS	PPP1CB	GLUL	BCL7B	PPP1R21	TRIP12	MYMK	NCF1	GTPBP2	FAM20C	MYH3	RAB3GAP2	PPP1R15B	IQSEC2	PIGV	DYRK1A	RFC2	ABL1	PYCR2	SLC35D1	PEX6	TBL2	BLTP1	SHH	GTF2I	PLA2G6	BMPER	CCDC88A	ABCC8	PTCH1	PLAA	MARS2	SMARCC2	ZMYM2	PGAP2	MOCS2	DLL1	FGF8	ADAMTSL2	CDH11	STX1A	FAR1	LTBP3	PEPD	SLC26A2	DNAJC30	SLC12A6	GATA4	SETBP1	ATRX	ATP6V1E1	SNRPN	VPS53	YWHAE	DPYD	VPS33A	CAV1	TXNL4A	BRAF	CACNA1G	ALDH6A1	SOX4	RAC3	GLI2	CHSY1	POR	WASHC5	ALG9	SMC3	LRP4	BUD23	SMO	INTS1	NEXMIF	SLC25A24	PARS2	ARID2	SATB2	RAB3GAP1	PPP1R12A	CHST14	LIFR	TDGF1	UBR1	PUF60	NIPBL	B3GLCT	PLOD3	GTF2IRD2	LIMK1	CASK	ATP6V0A2	MED13L	NPR2	DPF2	CDON	CDKN1C	PIGU	TMEM270	DDR2	MTOR	SIN3A	GAS1	MAP2K1	OFD1	DIS3L2	GNAI1	APC	ZSWIM6	GBA1	BUB1B
HP_MYOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOPATHY	STIM1	CHCHD10	MT-ND4	TNNC1	FKRP	FHL1	MYOT	VPS37D	VCP	ACAD9	MTMR14	ABCC9	MT-ATP6	POMT1	MT-ND6	LRP12	MT-ND2	TKFC	DPM3	SAR1B	LRP4	DES	CASZ1	FKTN	ADGRG6	FHL2	ACTA1	GFER	ACADS	MT-CO3	MT-TC	PLOD1	NARS2	SGCG	UBA1	CTNS	ACTN2	RRM2B	HSPG2	VMA21	AGK	MT-TL1	CHRNB1	DISP1	TPM2	CPT2	FLNC	NALCN	COL6A1	CFL2	UNC80	ANKRD1	PNPLA2	POLG	YARS2	MT-TK	DSE	MT-CO1	CHRND	JAG2	MYH7	MUSK	KBTBD13	MLXIPL	VAMP1	PGK1	ERGIC1	COL6A2	MT-ND5	SCN5A	GIPC1	ORAI1	TMPO	XK	LMNA	POMT2	PRDM16	RMND1	FKBP6	MGME1	RYR1	LDB3	HNRNPA2B1	TBCE	MYPN	ABHD5	SCN4A	COL12A1	MT-ND4L	PDPN	KLHL41	TTN	HNRNPDL	MT-TS2	MT-TQ	INPP5K	MT-TW	ANO5	COL6A3	DYSF	MTTP	CLIP2	XDH	COL9A1	LARGE1	PTEN	BAG3	VWA1	GATAD1	MT-TE	MT-TI	TPM1	MAN2B1	MYH14	DHX16	SLC25A4	ZBTB20	ADSS1	OPA1	GABRD	SQSTM1	TNNT1	ISCU	CAV3	TNNI3	KLHL9	FGFR1	PGAM2	ZIC2	BAG5	CRYAB	SGCB	TNNT2	SLC25A1	CHAT	GK	CENPF	GYG1	DSP	CISD2	TCAP	SIX3	SELENON	COLQ	PANK2	SDHA	B4GALT1	MT-ND1	TK2	MMP23B	SYNE1	BAZ1B	BIN1	ELN	SVIL	MT-CYB	AKT1	GMPPB	MT-TH	NEB	TIA1	SDHAF1	MYH2	CHRNE	FOXH1	EIF4H	TPM3	SIL1	DNM1L	PPCS	PUS1	BSCL2	MT-TF	LAMA4	COL13A1	CSRP3	TWNK	PLEC	SDHD	MT-TT	MT-TP	SLC22A5	DNM2	AMPD1	COMP	HADHA	PSEN1	RBM20	CASQ1	SYT2	CHRNA1	POMGNT1	EMD	TRMU	FXR1	KLHL40	ACTC1	GNE	TGIF1	CAP2	POLRMT	TMEM43	MYMX	COL9A2	CAPN3	MEGF10	LMNB2	SUFU	MYMK	SPEN	TRIM32	ACACA	SYNE2	METTL27	TAF1A	SGCA	SKI	AGRN	NEFH	PABPN1	GTF2IRD1	MYOD1	G6PC3	NODAL	TRAPPC11	DNA2	SLC5A7	AK9	PRKAG2	VPS13A	ACADM	BCL7B	CRPPA	NCF1	FKBP14	MYH6	TRIP4	MT-TV	NDUFAF4	NEFL	PLN	LUZP1	SCO2	PPARG	MYBPC1	DMD	RFC2	MT-RNR1	TBL2	B3GALNT2	CHKB	TNPO3	SHH	GTF2I	MYBPC3	DOK7	AP1S2	CACNA1S	KCNAB2	PTCH1	MSTO1	DNAJB6	AGL	DLL1	MYO9A	EPG5	FGF8	TXNRD2	NDUFA11	STX1A	NDUFAF1	ALPL	HNRNPA1	COL9A3	DNAJC30	GFPT1	TANGO2	RERE	ALG2	C1QBP	SLC18A3	RILPL1	SGCD	DSG2	PRKCZ	SDHB	DOLK	LIPE	MYO18B	GLI2	ALDOA	TPI1	FLAD1	NDUFS2	NUBPL	TAFAZZIN	NEXN	MTAP	BUD23	SLC25A3	SNAP25	CCDC174	DPAGT1	PSEN2	WFS1	GCLC	LAMB2	TDGF1	VCL	MYF6	MT-CO2	UBE4B	NDUFB3	GTF2IRD2	LIMK1	LAMP2	LMOD3	RAPSN	CDON	HADHB	TMEM270	RET	HAND2	POLG2	GAS1	ALG14	CHST14	RAF1	UNC45B
HP_DECREASED_MUSCLE_MASS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_MUSCLE_MASS	AKT1	GFPT1	NPAP1	SPARC	VANGL1	FUZ	LETM1	CPLX1	NOTCH3	BMP6	HSD17B4	SNORD115-1	FSHB	COL12A1	STRADA	PIEZO2	RUSC2	ATP6V1E1	MKRN3	PWRN1	MAGEL2	RAB18	ATP6V0A2	PYCR1	AP4E1	TYMP	POLG	SNORD116-1	PWAR1	HFE	PLOD1	CTBP1	G6PC1	NSD2	TRIM2	CHRNE	ATP6V1A	TGFB3	RRM2B	ALDOA	TBC1D20	SLC9A6	FGFRL1	FBN1	GRB10	PTEN	SMS	FARSA	LIG3	GYG1	COLQ	CHST14	HERC2	PANK2	LMX1B	ECEL1	DSE	MAP3K7	FUCA1
HP_RAGGED_RED_MUSCLE_FIBERS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RAGGED_RED_MUSCLE_FIBERS	CHCHD10	MT-ND4	MT-TL1	MT-TF	POLG	MT-ND5	SLC25A4	MT-ND2	GFPT1	MT-CYB	MT-ND6	ALG2	COQ2	MT-ND1	TYMP	MT-CO1	MT-TC	SUCLG1	SPG7	TWNK	RRM2B	NEFH	NDUFS4	MT-CO3	MT-TH	MT-TL2	SLC25A32	LIG3	PABPN1	MT-TP	NUBPL	MT-ATP8	MT-TV	BCS1L	MT-TK	MT-TN	DPAGT1	GMPPB	MT-TQ	TK2	MIEF2	CARS2	MYH7	MT-CO2	EARS2	MT-TW	DGUOK	MGME1	MT-RNR1	MT-ND3	MT-ATP6	SDHA	MT-TS2	POLG2	ALG14	AIFM1	SLC25A26	MT-TE	MT-TI	TRMU
HP_RHABDOMYOLYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RHABDOMYOLYSIS	CTDP1	TSEN2	AMACR	LDHA	CACNA1S	POLG	TANGO2	PGK1	HADHA	LPIN1	SLC12A3	FDX2	TSFM	ISCU	MLIP	XK	TSEN54	SLC25A20	ATP5F1D	TRAPPC2L	MT-CO3	ACADVL	CPT2	TSEN15	DGUOK	PGAM2	SUCLG1	HADHB	ALDOA	PYGM	CLCNKB	AMPD1	KCNJ18	ANO5	PGM1	PHKB	RYR1	TSEN34	SLC25A42	BCS1L	SEPSECS	MT-CO1	GABRA3
HP_SKELETAL_MUSCLE_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKELETAL_MUSCLE_ATROPHY	CHCHD10	FKRP	VCP	NEMF	BMP1	CUL4B	HSPB1	OPA1	MTMR14	POMT1	ZBTB20	LRP12	NEFH	MFN2	GBF1	CHRNA1	SPG11	FARS2	NEFL	TPM2	LMNB2	RTN2	SALL4	ALDH18A1	RYR1	LMOD3	PRPH	DGUOK	PGAP1	CCDC115	SPTLC1	VMA21	SH3TC2	FHL1	LIMS2	SGCG	CNBP	SLC25A46	LETM1	KLC2	SMCHD1	BSCL2	DYSF	COL6A1	COMP	DAG1	UBA1	SLC25A21	NAGA	TUBA1A	COL6A2	SGCD	TBCE	JAG2	MUSK	CPT1A	REEP1	EXOSC9	KIF1A	ERBB4	RPS6KA3	CPT1C	CHN1	GLE1	USP8	TOR1AIP1	WARS2	WNK1	PRPS1	PMP22	ERGIC1	ERCC8	LMNA	NDUFAF6	BVES	SOD1	C9orf72	PHKA1	MGME1	ATAD3A	GDAP1	HNRNPA2B1	LARGE1	CHRNE	HSPG2	KDM5C	PRX	PYGM	PIK3R5	HK1	KLHL41	TTN	SLC39A13	CYP7B1	COL4A1	CEP126	TDP1	ABHD12	SCN4A	POMGNT2	PON3	MINPP1	NOP56	PNPLA6	USP48	BICD2	DYNC1H1	ERBB3	MAFB	CRPPA	STAC3	COA7	EXOSC3	IGHMBP2	SOX10	SMN1	SLC52A3	NGLY1	MYH7	SPRTN	AGTPBP1	TTPA	PFN1	TBK1	ANO5	PNPT1	INPP5K	SELENON	TARDBP	ITGA7	SLC25A1	INSR	POLG	HSPB3	SPEG	FLNC	SQSTM1	MTMR2	HSPB8	CAV3	ATXN1	PLXND1	HEXB	ALS2	MT-TE	COG7	CCT5	PON1	BIN1	PDK3	DARS2	ATP8A2	TK2	DOK7	SLC52A2	MPZ	CCNF	PHF6	UBAP1	DCTN1	SDHAF1	SLC25A19	H4C11	DNM1L	ARSI	SIGMAR1	SURF1	TTC8	CHRND	PUS1	SLC7A7	CARS1	TWNK	PHKG2	SCAPER	SDHD	SPART	AMPD2	CEP290	HINT1	TRAPPC11	SYT2	STUB1	OGDH	ASCC1	GARS1	AIP	FLVCR1	NDUFA8	PNKP	CD28	SLC33A1	NEK1	MED25	POLRMT	TMEM43	SACS	KIF5A	PEX7	DHH	PFKM	TNXB	UNC13A	C19orf12	MYMK	CPLANE1	EGR2	EMD	RBM28	ERCC6	SETX	SLC12A6	SYNE2	COASY	CNTNAP1	SGCA	AGRN	AIFM1	MAG	COQ2	TGFB1	NDUFS4	SYNE1	PEX5	NEB	FBXO38	RAB7A	ADK	SLC5A7	EXOSC8	FIG4	GPR35	SLC46A1	SFXN4	KY	CFAP418	BBS1	NUP88	SBF1	DNM2	FITM2	FUS	ATXN2	SDCCAG8	TFG	LITAF	POMT2	TTC19	PAX7	PIK3R2	AP1S2	GLB1	TIA1	TOE1	VAPB	NEU1	AGL	SLC9A6	ASAH1	CHMP2B	HNRNPA1	DUX4	SCO2	TRIM32	KIF1C	ERLIN2	COLQ	SLC18A3	NDRG1	TIMMDC1	ZFYVE26	ATP1A1	SDHB	VRK1	ABCA1	CHRNB1	B3GALNT2	MKKS	MAP3K20	YARS1	SGCB	BRAF	HARS1	UBQLN2	B4GALNT1	NR3C1	RAI1	NPPA	RRM2B	IFRD1	PEX10	MT-ATP8	GNE	GAN	SNAP25	ACTA1	PYROXD1	NEXMIF	COL6A3	COL2A1	PLP1	DCAF8	ACTB	GJB1	MYOT	LAMB2	TUBB2B	SCYL2	SDHA	TYMP	LEMD3	HYCC1	TIMM8A	MATR3	CD59	TCAP	RNASEH1	CAPN1	RAPSN	SLC25A4	JAG1	ACTN2	KIF1B	GNAS	UNC45B	TBCK	ACADSB	ATL1	STIM1	BBIP1	NDUFA9	CHRNG	C2orf69	FBXL4	LRP4	FKTN	CEP19	LDB3	NARS2	MORC2	SUCLG1	DNA2	MECP2	CTNS	PLEKHG5	NPHP1	FAM111B	ZC4H2	BBS5	TBC1D23	KAT6A	POMK	YARS2	KBTBD13	FLRT1	GFPT1	VAMP1	ERLIN1	YY1	FGD4	FRG1	PON2	LTBP4	SCYL1	JPH1	POLR3A	CAPN3	HNRNPDL	WRN	MME	NALCN	MYPN	CDH23	LRSAM1	TAF15	PLEC	PTEN	FBLN5	VWA1	GYG1	RXYLT1	BBS2	PHYH	SVBP	MT-TL1	ATL3	GBA2	ADSS1	SLC16A2	TNNT1	SPTBN4	MPV17	ISCU	AARS1	PDE8B	KLHL9	KRT5	AFG3L2	PRKAR1A	VPS13D	VLDLR	PIGA	CHAT	MYH14	WDR81	REV3L	PNPLA2	SMN2	TCF4	MTRFR	RETREG1	PTRH2	ADARB1	INF2	FLNA	B4GAT1	IFT27	ATRX	APTX	WASHC5	MARS1	TPM3	SIL1	MLIP	HUWE1	MDH2	COL25A1	DHTKD1	MRE11	COL13A1	DAO	ARMC5	AMPD1	DMD	ATXN3	BBS4	MYH3	DNAJB2	ENTPD1	KRT14	COG8	DALRD3	NDUFA12	EPHA4	SLC5A6	SUCLA2	FXN	CTLA4	TPI1	MYMX	MYBPC1	SPTLC2	MYOD1	RNF170	MCCC2	PHKA2	SCN9A	BBS10	BBS12	PPARGC1A	TRIP4	PMP2	MSTO1	KLHL40	AR	TNFRSF1B	TP53	ATP7A	TRPV4	COL7A1	LZTFL1	ADSL	BAG3	NDE1	DES	TREM2	ANG	VPS13A	AK9	COL12A1	SPAST	ACADM	SCN5A	PIP5K1C	WDPCP	FKBP14	STING1	GMPPB	PSMB8	CFAP410	IDUA	TBCD	DNMT3B	MKS1	RBCK1	PYCR2	STAT1	POMGNT1	NOTCH2NLC	ANXA11	GLT8D1	ANTXR2	PSMG2	MYO9A	ATM	IBA57	HMGA2	PEX6	IFT74	LIPE	DPM3	PRUNE1	B4GALT7	PDE11A	GIPC1	NBN	MTAP	ARL6	SBF2	PIEZO2	TNR	NIPA1	OPTN	MST1	CYP27A1	PRKACA	IFT172	CADM3	KANSL1	GBE1	POLR2A	CA8	BBS7	PLOD3	LAMP2	BBS9	CHP1	SMPD1	SEMA4D	KCNK9	FUZ	PHKB	SEPTIN9	DNAJC19
HP_IMPAIRED_OXIDATIVE_BURST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_OXIDATIVE_BURST	CYBA	CYBB	CYBC1	NCF1	IRF8	NCF2	RAC2
HP_INTRACELLULAR_ACCUMULATION_OF_AUTOFLUORESCENT_LIPOPIGMENT_STORAGE_MATERIAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRACELLULAR_ACCUMULATION_OF_AUTOFLUORESCENT_LIPOPIGMENT_STORAGE_MATERIAL	NDRG1	TPP1	CLN6	KCTD7	DNAJC5	CLN8	CLN3	CLN5
HP_DECREASED_ACTIVITY_OF_NADPH_OXIDASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_ACTIVITY_OF_NADPH_OXIDASE	CYBA	CYBB	NCF1	NADK2	NCF2
HP_FINGERPRINT_INTRACELLULAR_ACCUMULATION_OF_AUTOFLUORESCENT_LIPOPIGMENT_STORAGE_MATERIAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FINGERPRINT_INTRACELLULAR_ACCUMULATION_OF_AUTOFLUORESCENT_LIPOPIGMENT_STORAGE_MATERIAL	CLN6	KCTD7	DNAJC5	CLN3	CLN5	CLN8
HP_DECREASED_METHYLMALONYL_COA_MUTASE_ACTIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_METHYLMALONYL_COA_MUTASE_ACTIVITY	PRDX1	MMADHC	MMAB	MMAA	MMACHC
HP_DEFICIENT_EXCISION_OF_UV_INDUCED_PYRIMIDINE_DIMERS_IN_DNA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEFICIENT_EXCISION_OF_UV_INDUCED_PYRIMIDINE_DIMERS_IN_DNA	FANCA	ERCC4	FANCD2	FANCC	FANCE
HP_DICARBOXYLIC_ACIDURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DICARBOXYLIC_ACIDURIA	ACADM	HFE	MMACHC	LMBRD1	ABCD4	TCN2	HMBS	ACAD9	GCDH	SUGCT	HPD	CD320	PPOX	DHTKD1	MCEE	ETFDH	DNAJC19	MLYCD	CPT2	ETFA	ALAD	MMAB	CPOX	IDH1	SLC25A20	ACADS	ACADVL	L2HGDH	MMADHC	ALDH6A1	NFU1	SUCLG1	ETHE1	NDUFS4	SLC22A5	ETFB	HCFC1	ACSF3	IDH2	PRDX1	SCO1	LETM1	COX16	SLC13A3	GATA1	ACAD8	SLC25A1	MMAA	SUCLA2	UROS	HADH	TRMU	HMGCL	CPT1A	SLC52A1	MMUT	D2HGDH	POLG
HP_GENERALIZED_AMYLOID_DEPOSITION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_AMYLOID_DEPOSITION	APOA1	LYZ	CST3	GSN	FGA	B2M
HP_HYPERGLUTAMINEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERGLUTAMINEMIA	LIPT1	SLC7A7	NAGS	GLS	ASS1	OTC	ASL	COX16
HP_OROTICACIDURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OROTICACIDURIA	SLC7A7	SLC25A15	UMPS	ASS1	OTC	ARG1	ASL
HP_ETHYLMALONIC_ACIDURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ETHYLMALONIC_ACIDURIA	ETFA	ETHE1	ACADS	POLG	ETFDH	ETFB	COX16	SUCLG1
HP_ABNORMALITY_OF_CHROMOSOME_STABILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CHROMOSOME_STABILITY	SMARCE1	BRCA2	FANCB	BLM	TCN2	XRCC2	PALB2	FANCA	TOP3A	UBE2T	FANCM	TMEM185A	TRAF7	RNF168	MAD2L2	SUFU	SLX4	ERCC4	PIK3CA	BAP1	TERT	FANCD2	SMARCB1	LIG4	AKT1	FANCL	RAD50	RAD51C	BRIP1	TINF2	CDCA7	BRCA1	FANCG	NF2	FANCF	FANCE	ZBTB24	FANCI	SMO	COX4I1	DNMT3B	NBN	MCM4	FMR1	FANCC	HELLS	XRCC4	PDGFB	RAD51	RFWD3	RMRP	ATM
HP_CHROMOSOMAL_BREAKAGE_INDUCED_BY_CROSSLINKING_AGENTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHROMOSOMAL_BREAKAGE_INDUCED_BY_CROSSLINKING_AGENTS	PALB2	FANCA	FANCD2	BRIP1	COX4I1	FANCF	BRCA2	FANCC	MAD2L2	FANCL	FANCE	FANCI
HP_DECREASED_METHYLCOBALAMIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_METHYLCOBALAMIN	MTHFD1	MTRR	PRDX1	MMADHC	MTR	LMBRD1	ABCD4	MMACHC
HP_HYPERNATREMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERNATREMIA	DSG1	AVPR2	SYK	FGFR1	SLC5A1	AQP2	ARNT2
HP_HYPERTYROSINEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTYROSINEMIA	FAH	HPD	TAT	BCS1L	SLC25A13
HP_DECREASED_PLASMA_CARNITINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_PLASMA_CARNITINE	ACADM	DLD	NDUFAF6	SLC22A5	COL7A1	ACAD9	EHHADH	MMP1	SCO1	NADK2	CPT2	ACAD8	MCCC2	GATM	HADH	SLC34A1	SLC25A20	HMGCL	ACADVL	MT-TE	TRMU	CTNS
HP_HYPERMETHIONINEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERMETHIONINEMIA	FAH	MAT1A	CBS	AHCY	ADK	SLC25A13	GNMT	SKIC3
HP_INCREASED_CIRCULATING_IGG_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_IGG_LEVEL	CD247	CCND1	NCKAP1L	CASP10	FAS	RASGRP1	IL2RB	IL2RG	FASLG	STING1	PRKCD	NLRP1	IFNGR1	PSMB8	PGM3	TGFB1	DOCK8	IFIH1	IPO8	TPP2	POMP	CARD10	IL7R
HP_EXTERNAL_GENITAL_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXTERNAL_GENITAL_HYPOPLASIA	PROKR2	SEMA3E	VPS37D	RGR	CTCF	CUL4B	IDH3A	PRPF4	KLHL10	OTX2	ZMYND15	KISS1R	CEP41	RNASEH2C	KCNJ6	BMP4	FRAS1	EHMT1	LMOD3	CAMK2A	FKRP	FZD2	CDT1	SLC7A14	BRCC3	DPYSL5	MEGF8	PCARE	RNF113A	TCTN3	CYP17A1	DISP1	DYNC2H1	SRY	SMARCA2	TAPT1	ZEB2	CCDC141	GPR161	SLC39A4	NR5A1	HNRNPR	DAG1	UBA1	FANCM	RNASEH2B	DHX37	TWIST2	CDC6	POMT1	ARL3	DVL1	SMCHD1	CYP11B1	DUSP6	PSMD12	RP2	KAT6B	LEPR	PIGQ	WT1	MKS1	FKBP6	CRB1	FGFR1	LARGE1	HSPG2	RNU7-1	SOX3	KDM5C	GLI2	TEX11	XRCC2	BBS5	NDNF	CHD7	EBF3	PQBP1	COL4A1	SPRY4	ATP6V1A	EIF2S3	IRF6	ARX	POMGNT2	GNRHR	MINPP1	SOX9	DDX3Y	CDH2	TRRAP	PEX6	NDN	SIK1	NR2E3	ALOXE3	DHODH	DPM2	RAD21	SNORD115-1	TULP1	EZH2	SNRNP200	KDM6A	DAZ2	GABRD	STXBP1	LHX4	RIPK4	HSD3B2	HID1	UBR7	GRM7	POLR1D	NR0B1	DDB2	TCOF1	SEMA4A	INTU	KMT2D	HESX1	PDE6A	ERCC2	SAMD9	TCF4	KLHL41	FARSB	UBE3B	THOC2	GATA4	MADD	NRL	WNT5A	RSPO2	KIAA0586	GMPPB	AR	GPC3	CDKL5	USH2A	SIX3	TBCE	LSM11	CTU2	VAC14	BAZ1B	CCDC28B	CCDC22	DVL3	BEST1	GPC4	ATAD3A	SYCE1	PHF6	MOGS	IMPDH1	C14orf39	PRPF8	FEZF1	EIF4H	FKTN	TTC8	MCTP2	MAPRE2	LZTFL1	DYRK1A	FGF8	NXN	RPL10L	KLF1	INPP5E	AHI1	SNRPN	MAGEL2	KIZ	IGF2	SCAPER	NSMF	CEP290	TOPORS	PDE6B	PTDSS1	IFT140	CCNQ	MAK	SIM1	ERCC5	WDR11	POMGNT1	FXR1	BRD4	GRIP1	CERKL	NEK1	FAM161A	CENPT	LSS	GUCA1B	MKRN3	NSD1	HMGA2	SUFU	POLR1C	RAB18	MAP3K7	MEG3	ARL6	XRCC4	CRPPA	SEMA3A	DCC	METTL27	MBD5	STAG1	ORC6	PHF21A	KATNIP	MKKS	SLC25A22	IFT80	RBMY1A1	TP63	GNAO1	CHD4	PRPF3	RBP3	FANCL	PMM2	PDE6G	GRIA3	WNT7A	TBC1D20	RAB23	BCL7B	IFT172	ABCA4	CFAP418	NCF1	SUZ12	BBS1	RAB3GAP2	RP9	PTPN11	SIN3A	OFD1	FAM111A	DCX	SDCCAG8	ARCN1	UBE2A	PRRX1	OPHN1	NECTIN1	BBS2	SATB2	PROM1	HDAC8	SHH	MCM8	OGT	DKC1	TUBB	ERCC6	MLXIPL	FLRT3	PTCH1	TOE1	HERC2	GMNN	ROBO1	OCA2	ROR2	STT3B	SCN1B	ATRX	FSHB	CNGA1	SGPL1	STT3A	TRIM32	RNASEH2A	RYR1	DNAJC19	DTYMK	SLC29A3	GLI3	PRKCZ	SETBP1	PROP1	PNPLA6	POMT2	VAMP7	B3GALNT2	PRCD	DLK1	RAD51C	POR	SOX2	WASHC5	RPL10	ORC1	SOHLH1	PAFAH1B1	HOXA13	BUD23	SMO	ARL2BP	SLC25A24	DPM1	ACTB	CDKN1C	SAG	RAB3GAP1	PPP1R12A	SIX6	TDGF1	UBE4B	HGSNAT	PIGA	PPP2R3C	ANK1	SAMHD1	ADAR	MEIOB	MAMLD1	TACR3	LHB	SOX10	PEX1	NEUROD2	ORC4	BBS4	RNU4ATAC	GAD1	ALX4	POU1F1	SALL1	FGFR2	RPGR	FGF17	PORCN	AHR	DAZ4	BBIP1	CYP11A1	FSCN2	CHRNG	PNLDC1	CUL7	AXL	KIAA0753	TAF4B	FBN1	CASZ1	ZFPM2	DYNC2I1	B4GAT1	CEP19	PRPF31	CHRM3	WDR35	PHGDH	DHCR7	EYS	NPHP1	PHF8	TBL1XR1	ALOX12B	LHCGR	WWOX	SRD5A2	POMK	SCN2A	REEP6	SMC1A	HS6ST1	TYMS	DCAF17	LAMA5	PRDM13	FREM2	ALG12	IMPG1	B9D2	TBX3	DHDDS	CLRN1	ISL1	PRDM16	C2CD3	AGBL5	ARNT2	DMXL2	XPC	PRPH2	FANCF	RPE65	PDPN	IFT27	INPP5K	ANOS1	MTM1	CLIP2	FIG4	PRKDC	CTDP1	LEP	KLHL15	LMNA	RXYLT1	SC5D	HCCS	GBA2	PROK2	DMRT3	SPATA7	SPTBN1	EXT2	ALKBH8	KIF7	FANCB	PWRN1	MED12	RTTN	GNB2	CDC45	ARHGEF18	ERCC8	PWAR1	COLEC10	ZIC2	CYB5A	GNRH1	ROM1	B3GLCT	CA4	MMP23B	ZNF513	RP1L1	RLBP1	MID1	ELN	CCDC34	NANOS1	PBX1	KLHL7	CDON	CASK	USP7	FOXH1	SIL1	COX7B	NAA10	TSPY1	IL17RD	HUWE1	RLIM	PIGP	MERTK	ZPR1	CRX	MYH3	THOC6	POLA1	CILK1	FOXA2	DACT1	FMR1	LIG4	ADAT3	RP1	LMNB2	TGIF1	GLYCTK	COG5	FANCD2	PRPF6	BBS10	BBS12	SPEN	ECE1	TUB	KLHL40	RDH12	SKI	USP9Y	TDRD9	IMPG2	RSPO1	MYRF	PSMC1	GTF2IRD1	H4C9	NODAL	POC1A	KISS1	ECEL1	ERCC3	TEX14	CPE	KIAA1549	ESR2	WDPCP	TEX15	TRIM8	NDUFB11	NEK2	LUZP1	UBR1	NEB	MBTPS2	RFC2	DDX6	TBL2	SMAD4	CDH11	BLTP1	TAC3	GTF2I	DYNC2I2	GHR	CDHR1	KCNAB2	TREX1	DLL1	STX1A	KCNA1	LRAT	DNAJC30	NPAP1	IFT88	ALMS1	CDC42BPB	RERE	DAZ3	NIPBL	IER3IP1	CNGB1	POLE	YWHAE	ACTA1	PLAG1	SNORD116-1	SYCP3	LMX1B	IFT74	RAC3	XPA	MNX1	TOGARAM1	SRA1	TMEM216	SMC3	DAZ1	ZMPSTE24	HERC1	POLR1B	EED	ZNF408	MAP3K1	ERCC4	BBS7	TCF12	GTF2IRD2	LIMK1	IFIH1	BBS9	RHO	RTL1	FAT4	GRIN1	IDH3B	DHX38	TMEM270	ARID1B	OTUD5	GAS1	PIEZO2	DIS3L2	TSPYL1	CFTR	HOXD13	BUB1B	PNKP
HP_OVERGROWTH_OF_EXTERNAL_GENITALIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVERGROWTH_OF_EXTERNAL_GENITALIA	PPARG	CDKN1C	KCNQ1	INSR	AGPAT2	IGF2	FOS	CAVIN1	BSCL2	KCNQ1OT1	CAV1
HP_ABNORMALITY_OF_DNA_REPAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_DNA_REPAIR	CARS1	DDB2	ERCC4	ERCC3	FANCD2	ERCC2	TARS1	RNF113A	FANCC	FANCE	ERCC6	GTF2H5	FANCA	XPA	XPC	GTF2E2	ERCC5	MPLKIP
HP_ABNORMALITY_OF_THE_COAGULATION_CASCADE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_COAGULATION_CASCADE	PML	ITGB3	ANO6	UNC13D	DPM2	F13A1	NR1H4	IRF2BP2	ITGA2B	PROS1	MGAT2	ACAD9	PROC	GP1BB	FAH	FIP1L1	B4GALT1	ATP6V1E1	FGG	GP9	F5	NABP1	PRF1	SERAC1	F11	ZBTB16	GP1BA	LMAN1	F13B	DDOST	PTPN11	F8	PLG	HAVCR2	COG2	CFH	AKR1D1	NBEAL2	AMACR	CLPB	F7	ITGB2	SPTA1	ALG12	ATP6V1A	VWF	SLC25A15	STAT5B	SERPINC1	SPTB	EPB42	SOS2	COG4	HMGCL	NPM1	ALG2	HELLPAR	STAT3	F9	MPDU1	RFT1	ALG6	COX16	TCF4	MCFD2	OSTM1	PMM2	STXBP2	HADH	TFAM	STX11	ADK	RINT1	LZTR1	F10	SLC7A7	DPM1	SLC4A1	OTC	RYR1	PRKAR1A	DPAGT1	FLNA	HLA-DQA1	MAP2K1	HLA-DQB1	MPI	ALDOB	F2	GNE	XIAP	GPR35	HSD3B7	SLC25A13	MST1	SLC30A10	MICOS13	CACNA1S	NGLY1	GGCX	ALG8	ATP6V0A2	VKORC1	NLRC4	SRD5A3	MCM10	FGA	SERPINE1	AHCY	GFI1B	HSD17B10	SSR4	ANK1	SEMA4D	BRAF	LYST	CD46	CFI	SOS1	CYP7B1	SLC37A4	F12	PGM1	AGA	RARA	FGB	NUMA1	MTTP	LARS1	GNA14	BCOR	TRMU	EFL1	PET100	IKZF5	TBL1XR1	COG8	NBAS
HP_INCREASED_CIRCULATING_IGA_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_IGA_LEVEL	CD247	CCND1	POU2AF1	CASP10	CD40LG	IKBKG	FAS	SPIB	RASGRP1	FASLG	STING1	PRKCD	TNPO3	MMEL1	NLRP1	IL12A	PSMB8	MVK	PGM3	WAS	IRF5	OTULIN	TNFSF15	POMP	IL12RB1	CARD10	IL7R	GTF2H5
HP_SMOOTH_MUSCLE_ANTIBODY_POSITIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMOOTH_MUSCLE_ANTIBODY_POSITIVITY	FASLG	COL4A5	CD247	ITCH	CASP10	FAS	COL4A6
HP_NEONATAL_HYPERBILIRUBINEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_HYPERBILIRUBINEMIA	GYPC	TPO	SLC35A2	UGT1A1	SPTA1	KCNN4	UBE2A	IYD	TSHB	DUOX2	EPB41	PIEZO1	SLC4A1	FBP1	TG	SLC5A5	IGF1	SPTB	GPX1	DUOXA2	CPOX	PAFAH1B1	TSHR
HP_ABDOMINAL_DISTENTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABDOMINAL_DISTENTION	SLC1A3	IDUA	FSHR	SLC26A4	POU2AF1	ITGB4	NPHS1	CYP27B1	IFT122	C2orf69	TTC7A	NKX2-5	NKX2-1	PAX8	STAT4	KIAA0753	COL2A1	MYH11	LBR	TSHR	LIPA	SAR1B	ARSA	GNE	COL11A1	PERCC1	IPO8	ALAD	MEG3	IFT52	DYNC2I1	TYMP	INSR	SLC2A2	POLG	GNPTAB	ACTG2	MYLK	ANO1	PSAP	WDR35	SLC37A4	SPTA1	SLC26A2	PI4KA	DLK1	INPPL1	RRM2B	MTOR	KRT18	MNX1	SPIB	FLI1	LRP5	SPTB	ATP1A3	FOCAD	EPB42	LIG3	LMOD1	TRIP11	ITGA6	ATP7B	TCTN2	STX3	KAT6A	IFT80	CLMP	EPCAM	FLNB	IRF5	SLC4A1	FLNA	ATP1A2	SLC9A3	HLA-DQA1	HLA-DQB1	ALDOB	DYNC2H1	ZEB2	SLC5A1	MYL9	PSAT1	DDRGK1	HMBS	TXNDC15	IRAK1	WT1	SPINT2	MMEL1	DHCR7	EPHB4	PSMB8	CACNA1A	ALG8	TTC26	RET	FGFR3	TREH	PTH1R	RTL1	FREM2	G6PC1	MESP2	MPV17	IL12RB1	SPP1	SLC35D1	DLL3	BRCA1	SMPD1	ANK1	SEC63	DYM	SMARCAL1	DYNC2I2	TNPO3	BMPER	IL12A	TMEM251	CYP2R1	PYGL	SI	COL11A2	FOXE1	NKX3-2	MYO5B	TRMU	PRKCSH	TNFSF15	EWSR1	SLC26A3	VDR	PLEC	FBN1	GBA1	POLG2
HP_HIP_CONTRACTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIP_CONTRACTURE	ACTA1	GNPTAB	MYH3	MAP3K20	SLC10A7	KAT6B	MYL1	ZBTB20	PI4KA	HS2ST1	PTH1R	TPM3	ERLIN2	RMRP	TNNT1	RYR1	SCYL2	ERGIC1	GNB2	SLC6A9	ZC4H2	PIGA	SPEG	TELO2	FKBP10	NALCN	MYL2	TTN	ERCC8	SETD2	GARS1	COL25A1	COL2A1	TPM2	ITGA7	HSPG2	UBA1	UNC80	APC2	PNPT1	TRPV4	NSD1	SLC26A2	SELENON	MMP2	RNU4ATAC	PIGY	HACD1	F8	BICD2	MYL11	FBN2	MAP3K7	BIN1	LGI4	P4HTM
HP_NARROW_PELVIS_BONE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_PELVIS_BONE	BMPER	POR	FGFR2	RSPRY1	BGN	PCNT	IDUA	PTH1R
HP_LOW_ALKALINE_PHOSPHATASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_ALKALINE_PHOSPHATASE	SLC39A4	PIGT	PIGS	CEBPE	BCR	LIPA	ALPL	ABL1	C18orf32	PIGK
HP_CYSTATHIONINEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CYSTATHIONINEMIA	PRDX1	LMBRD1	CTH	MTHFR	MMACHC
HP_DECREASED_SERUM_LEPTIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SERUM_LEPTIN	ZMPSTE24	LEP	LEPR	CIDEC	AKT2	BSCL2	AGPAT2	LMNA	LIPE	BANF1
HP_SPINA_BIFIDA_OCCULTA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPINA_BIFIDA_OCCULTA	CREBBP	DNAJC30	FLNB	TBC1D24	BCL7B	TNXB	POLA1	MLXIPL	NSUN2	CHRNG	EP300	VPS37D	DLL3	CUL7	HES7	NCF1	TBX6	CHN1	MASP1	FUZ	MYH3	TBXT	FLNA	DACT1	EIF4H	ZIC1	B3GLCT	GTF2IRD2	LIMK1	RAB23	MAP3K7	PTPN11	COLEC10	COLEC11	SALL4	FKBP6	METTL27	RFC2	BRAF	RECQL4	TBL2	LFNG	NEK9	COL18A1	TMEM270	ARID1B	KCNH1	RAF1	GTF2I	PUF60	RORA	RIPPLY2	VANGL1	LIG4	NOTCH2NLC	GTF2IRD1	RUNX2	IRF6	CCBE1	CCL2	ATP6V1B2	BUD23	CLIP2	BMP2	HMX1	VANGL2	CCNQ	CDK13	AMER1	PORCN	MESP2	MAFB	FIBP	STX1A	BAZ1B	WBP11	DARS1	ELN	ACTB	IKBKG
HP_OVOID_VERTEBRAL_BODIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVOID_VERTEBRAL_BODIES	COMP	UBE3B	NAGLU	COL2A1	ARSB	SBDS	MATN3	PCYT1A	SMARCAL1	LIFR	GALNS	B3GALT6	FBN1	FN1	KCNJ8	LTBP1	GNS	DNAJC21	IHH	SGSH	TBX15	ABCC9	POP1	GLB1	GNPTAB	HGSNAT	NPR2	SLC35D1	SRP54	LBR	LTBP3
HP_IRREGULAR_VERTEBRAL_ENDPLATES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRREGULAR_VERTEBRAL_ENDPLATES	POLR3A	COMP	SLC10A7	COL9A3	ZBTB20	SLC39A13	GORAB	LOXL3	ACP5	GNPAT	B3GALT6	TRAPPC2	EIF2AK3	PAPSS2	CHST3	PDE4D	COL9A1	TNFRSF11A	COL10A1	COL11A1	CCN6	EXOC6B	NANS	IDH1	COL2A1	KIF22	SLC29A3	RNU4ATAC	TCIRG1	COL9A2	MMP13
HP_SPONDYLOLISTHESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPONDYLOLISTHESIS	TGFBR2	MYH3	TGFB3	KANSL1	BMP2	SMAD3	TGFB2	CTSK	LMX1B	FBN1	COL2A1	PABPN1	MAN2B1	IDUA	AGA	RUNX2	ZNF469
HP_SPONDYLOLYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPONDYLOLYSIS	FLNB	CTSK	AGA	RUNX2	LMX1B	FLNA
HP_BLOCK_VERTEBRAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLOCK_VERTEBRAE	HES7	MESP2	ZIC3	DLL3	FLNB	SF3B2
HP_SPINAL_RIGIDITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPINAL_RIGIDITY	ACTA1	KBTBD13	KLHL41	COL6A3	MYH7	POMT1	VAMP1	COL6A2	NEB	TTN	TMEM43	COL12A1	COL13A1	TRIP4	ACVR1	TOR1AIP1	ERLIN2	DES	AGRN	SLC18A3	FKTN	TPM3	LMNA	MYMK	DYSF	EMD	TPM2	LMOD3	MGME1	SYNE2	MYBPC1	COL2A1	INPP5K	SELENON	SLC25A1	TNPO3	FHL1	BAG3	CHAT	MYPN	COL6A1	SYT2	ORAI1	CFL2	SLC5A7	SNAP25	PYROXD1	SYNE1	CAPN3	MYO9A	HSPG2	CAVIN1	KY	JAG2	POMT2
HP_HYPERLORDOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERLORDOSIS	BCOR	PPM1D	MAP3K20	FKRP	ITCH	ARSB	IARS2	CTSK	VPS37D	MATN3	CFL2	CUL7	MTMR14	NSDHL	TMEM43	NF1	ACTA1	NAA10	ACAN	CAPN3	POP1	SCN9A	CANT1	TPM2	TTN	EXTL3	EMD	SYNE2	SGCG	METTL27	TRPV4	TGFB1	TONSL	SLC26A2	FHL1	COL1A2	COL11A2	GTF2IRD1	DMD	SMCHD1	MED12	CCDC8	COL10A1	OBSL1	DNA2	RMRP	FGFR3	COL6A3	TRPS1	VCP	POMT2	DYM	IHH	COL12A1	HSPG2	DNM2	ECEL1	ADAMTS10	KY	BIN1	GMPPB	SGCA	BCL7B	MLXIPL	DDRGK1	BGN	NCF1	MASP1	PIEZO2	MYH7	LAMA2	AP1G1	CRKL	WNK1	TWIST1	PRG4	LMX1B	LMNA	RERE	KNSTRN	DNMT3B	MYL2	COLEC11	PIK3CD	COL6A2	GARS1	FKBP6	MYBPC1	ALG2	HNRNPA2B1	RFC2	POMGNT1	TBL2	COL2A1	NECTIN1	SCN4A	SMARCAL1	GTF2I	PRKG2	SOX5	ACP5	TRAPPC2	TFE3	PIK3C2A	CLIP2	HACD1	RAB3GAP2	ZC4H2	TFAP2A	BICD2	MAPK1	PLEC	FRG1	ARSK	POMT1	TRAPPC11	STX1A	CAVIN1	FBN1	DNAJC30	MYPN	PCGF2	SLC10A7	DUX4	CSGALNACT1	NEB	GFPT1	TBX6	ABCC9	BCR	GNB2	TOR1A	SHOX	GNPTG	TMEM63C	VPS33A	COLEC10	H4C5	DYSF	FGFR2	GLB1	FUCA1	INPP5K	LIPE	MFN2	TOGARAM1	NOTCH3	L1CAM	HACE1	ALX3	FN1	RYR1	EIF2AK3	LTBP1	CHST3	SYT1	SETD5	ASH1L	DAG1	HERC1	COLQ	RETREG1	HNRNPA1	BUD23	SPEG	SETBP1	PLEKHG5	SELENON	KLHL41	VPS13B	MAPK8IP3	SYNE1	HNRNPH2	POLR3GL	DPAGT1	BAZ1B	ELN	COMP	RAB3GAP1	SATB2	CLCF1	TPM3	POMK	SON	KANSL1	FLNB	EIF4H	CCN6	XYLT1	GTF2IRD2	LIMK1	LMOD3	NPR2	ITGA7	LBR	PPP1R15B	TMEM270	RET	KIF1A	GALNS	ALG14	MMP13	COL6A1	FKTN	RSPRY1	AMER1
HP_CERVICAL_SUBLUXATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVICAL_SUBLUXATION	IDUA	COL2A1	DDR2	GALNS	MMP2	MADD	RMRP	FLNB	GLB1	ARSL
HP_ABNORMALITY_OF_THE_ODONTOID_PROCESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ODONTOID_PROCESS	COMP	IDUA	TRPV4	DDR2	INPPL1	ARSB	IARS2	COL2A1	GUSB	DYM	BGN	RAB33B	GALNS	TRAPPC2	AIFM1	EIF2AK3	FN1	FLNB	DKK1	HES7	NFIX	RMRP	FGD1	EXTL3	LONP1	GLB1	GNPTAB	COG4	MESP2	NMNAT1	FLNA	DLL3	LFNG
HP_HYPOPLASIA_OF_THE_ODONTOID_PROCESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_ODONTOID_PROCESS	COMP	IDUA	TRPV4	DDR2	INPPL1	ARSB	IARS2	COL2A1	GUSB	DYM	BGN	RAB33B	GALNS	TRAPPC2	AIFM1	EIF2AK3	FN1	FLNB	NFIX	RMRP	FGD1	EXTL3	LONP1	GLB1	GNPTAB	COG4	LFNG
HP_ABNORMAL_FORM_OF_THE_VERTEBRAL_BODIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FORM_OF_THE_VERTEBRAL_BODIES	EXTL3	ARSB	IARS2	SEMA3E	COL2A1	VPS37D	LRP4	HSPG2	MATN3	TMCO1	BMP1	CUL7	HAAO	ARSL	HES7	IFT43	DEAF1	FUZ	ZBTB20	LBR	KYNU	ACAN	COL11A1	IPO8	IDH1	RNU4ATAC	WASHC5	CANT1	SALL4	GNPTAB	PRKAR1A	FZD2	LRP5	TCIRG1	COL11A2	TRPV4	NSD2	DHCR7	SFRP4	GLB1	NAGLU	SEC24D	GLI3	RSPRY1	LONP1	CBY1	TBXAS1	VANGL1	FBN1	TAPT1	MESP2	MBTPS2	XYLT2	CREB3L1	CCDC8	GPX4	COL10A1	TMEM237	OBSL1	CLCN7	FGFR3	FANCC	CSPP1	RINT1	HNRNPR	DYM	LAMA5	SLC29A3	COL1A2	ALG12	POLR3A	SPARC	MLXIPL	H3-3B	DDRGK1	PCYT1A	PLCB3	RPS6KA3	CHRNG	CHN1	CFAP410	LOXL3	HSPA9	TMEM67	HYLS1	TMEM218	PTCH1	SH3PXD2B	PTH1R	FKBP6	AGA	FLII	KIAA0586	NMNAT1	NEU1	COG1	CEP41	SMARCAL1	CHD7	SLC39A13	PRKG2	SOX5	MMP14	MAP3K7	ACP5	RAI1	GLE1	PDE4D	SGSH	SUFU	ATP6V1B2	CLIP2	AEBP1	MPL	FIG4	MAFB	SRP54	MAN2B1	IDUA	FGFR1	FLNB	LETM1	CPLX1	IKBKG	DLL3	CSGALNACT1	FOXF1	KDM6A	ADA	MMP13	ABCC9	FUCA1	ATP7A	FKBP10	UBE3B	SBDS	DMP1	NOTCH3	CDK10	MADD	FLNA	P3H1	B3GALT6	LTBP1	CHST3	PYCR1	SGMS2	CCL2	TBX15	KIF22	B3GLCT	TCTN1	POR	COL9A2	BAZ1B	RMRP	ELN	UFSP2	SF3B4	COMP	CCDC22	AKT1	WNT4	NOTCH2	FLI1	SON	IHH	EIF4H	CCN6	XYLT1	TCTN2	LRRK1	TMEM53	COG4	PAM16	LFNG	OCRL	IFITM5	GUSB	RUNX2	PUF60	SLC35D1	VANGL2	COL1A1	AIP	CEP120	ANTXR1	USP8	ACVR1	RIPPLY2	ROR2	EIF5A	CBS	KATNIP	ITCH	THPO	TRIP11	TBXT	HDAC6	FN1	EXOC6B	NANS	POP1	MEG3	CSF1R	CTBP1	METTL27	DVL3	MBD5	PIBF1	ARMC9	INPPL1	ENPP1	WNT5A	FGFRL1	PLEKHM1	TONSL	GTF2IRD1	TENT5A	PAPSS2	GNS	COL9A1	TNFRSF11A	EBP	SUMF1	PMM2	JAG1	WNT7A	PLOD1	PAICS	ALPL	MRPS28	FANCB	BCL7B	SEC23A	BGN	NCF1	PEX7	AIFM1	INPP5E	TWIST1	PTCH2	IQSEC2	KDELR2	SMAD4	RFC2	PPIB	TBL2	CPLANE1	COL9A3	ARL13B	NEPRO	CDH11	GTF2I	TRAPPC2	PIGG	TMEM251	ALDH1A2	NKX3-2	NELFA	HGSNAT	ARSK	HHAT	STX1A	SKI	LTBP3	VDR	MYH3	DNAJC30	TBC1D24	SLC10A7	DVL1	TBX2	ATRX	GNPAT	KMT2D	CAPN15	STAG2	RPS19	FGFR2	TOGARAM1	SLC26A2	B9D2	DLK1	SERPINF1	SOX2	RAB33B	PTEN	MKS1	ORC1	KCNJ8	EIF2AK3	RPL13	DNAJC21	SF3B2	BUD23	NEK1	RAD21	SOST	MMP2	CEP104	SLC25A24	PIEZO2	SMOC1	AHI1	MIA3	PLOD2	ARL3	GJA1	SIX6	LIFR	CYP27A1	P4HB	GORAB	ANKRD11	PLOD3	GTF2IRD2	LIMK1	DHX37	RTL1	SERPINH1	NPR2	NF1	PPP1R15B	TMEM270	DDR2	GALNS	OTUD5	NOTCH2NLC	B3GAT3	APC	TBX6	IDH2	WNT1	B9D1	WBP11	SC5D
HP_BUTTERFLY_VERTEBRAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BUTTERFLY_VERTEBRAE	ALG12	MBTPS2	IPO8	STAG2	COG1	TBX6	NKX3-2	SOX2	CSGALNACT1	HAAO	ARSL	SIX6	LAMA5	SOX5	FOXF1	KDM6A	OTUD5	RIPPLY2	KMT2D	WBP11	SC5D
HP_ABNORMALITY_OF_THE_CERVICAL_SPINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CERVICAL_SPINE	PIGN	BBIP1	GABRA3	POU1F1	HSPG2	TMCO1	GLE1	CUL7	HS2ST1	ARSL	HES7	RIT1	ACAN	COL11A1	MEOX1	PIGY	IDH1	ACTA1	RNU4ATAC	CANT1	CEP19	PTPN11	KRAS	EXTL3	SALL4	DPYD	RPS24	IFT140	PGAP1	FZD2	COL11A2	MEGF8	DHCR7	ROBO3	RPS27	TCF4	NPHP1	RSPRY1	GP1BB	ADA2	SLC26A2	FHL1	BBS5	SOS2	TPM2	TBL1XR1	TAPT1	MMP2	RPS28	IDUA	MECP2	MESP2	ANKRD11	MED12	RREB1	NALCN	COL6A1	CCDC8	OBSL1	CFL2	SKI	UNC80	SMC1A	TAF1	IGBP1	HNRNPR	DYM	LAMA5	VPS33A	DSE	RPS29	POLR3A	TRPV4	LZTR1	POMT1	ERCC5	DDRGK1	DVL1	RPL35A	COL6A2	CHRNG	LARGE1	TXNDC15	CHN1	PIEZO2	HSPA9	GDF6	POMT2	PSMD12	PTPN2	TBX1	NUP88	MKS1	GNAS	APC	MAN1B1	HRAS	COG1	LHX3	BAP1	COL2A1	SMARCAL1	COL6A3	MED13L	NEK9	IL2RA	AEBP1	MPL	TUBB	ZC4H2	GPC6	SCYL2	ACTG1	MAFB	ROR2	MAN2B1	PPP1CB	FTO	BBS2	SOX9	RAD21	FLNB	EBP	DLL3	CUL4B	ERMARD	FANCB	STXBP1	GPX4	NBAS	RPL26	BRAF	ABCC9	FUCA1	INTU	ATP6V1B2	POGZ	SPRED2	CSGALNACT1	CBL	NOTCH3	ACTB	MADD	TNNT3	DONSON	WNT5A	RAF1	KIAA0586	GMPPB	TGDS	RB1	GPC3	CHST3	FANCI	ERCC6	RPS19	B3GLCT	ATRX	PRMT7	TRMT10A	COG7	COMT	RPS15A	BPTF	RMRP	CCDC22	DVL3	KIFBP	FGFR2	PSAT1	SEC24C	GPC4	OTX2	NOTCH2	RAB5IF	SHOX	IFT27	MICU1	FLI1	SMAD3	B3GALT6	XYLT1	NAA10	GLB1	KNSTRN	TTC8	DYRK1A	HBA2	NXN	GJA8	PIGO	PAM16	LFNG	SCAPER	SRCAP	GUSB	BRF1	BBS4	COMP	CEP290	TRIP11	PUF60	KCNN3	TRAPPC9	SLC35D1	FOXA2	RPS7	PIK3CD	RIPPLY2	TGFBR1	CD247	BRD4	ADAT3	HBA1	MGAT2	WNT7A	THPO	BGN	AFF3	DOK7	COG5	CTNND2	RPS26	NANS	POP1	FGD1	MEG3	BBS10	BBS12	GPKOW	EMD	AMMECR1	PIGV	WAC	GATA1	STX16	HDAC8	WNT4	INPPL1	CDK5	LZTFL1	SPRED1	GNS	TCTN2	SHOC2	EXOC6B	SMPD4	XYLT2	RPL15	FANCL	GZF1	OTUD6B	MYL11	RPL11	FBN2	MAP2K2	MAPK1	ECEL1	MYH3	CHRND	FLNA	PAICS	CTDP1	MRPS28	TECPR2	MAPRE2	WDPCP	CREBBP	RPL27	IDS	CFAP418	FAM20C	ANKRD55	AIFM1	BBS1	FGFR1	PPP1R15B	AP5Z1	LHX4	GLI2	DCC	SDCCAG8	SMAD4	CD96	RPS10	UBE2A	TGFB3	IL2RB	FKRP	CDH11	MUSK	SOS1	TRAPPC2	BMPER	STAT4	PROP1	NKX3-2	PHGDH	GDF3	TFAP2A	CEP55	RPL18	RPL31	TIMM50	RPL5	EXOSC9	ESCO2	TBX2	GATA4	SETBP1	CCN6	NEB	TBX6	COL12A1	NIPBL	SNRPN	TRIM32	ANTXR2	RIPK4	POLE	ERCC2	YWHAE	NLRP1	HIRA	GNPTG	RAB23	H4C5	PTPN22	LMX1B	IFT74	C2CD3	KCNH1	MYO18B	MKKS	DLK1	ALDOA	TSR2	WASHC5	NRAS	ARVCF	MRPL12	RAB33B	ALG9	RDH11	TOR1A	SMC3	FN1	RFT1	KCNJ8	HDAC4	NBN	PAFAH1B1	ARL6	IL6ST	INTS1	PGAP2	SF3B4	KLHL41	NUP188	TNNI2	MAP2K1	RPS20	PKDCC	SATB2	SEMA5A	CLDN11	GJA5	HESX1	LIFR	PALB2	IFT172	ALG8	PLXNA1	PIGW	BBS7	PIGA	HPDL	MSL3	KIF7	RPS17	DHX37	ERCC1	PGAP3	FGFR3	BBS9	HTRA1	LMOD3	RTL1	WDR35	NF1	TBX15	CRLF1	DDR2	CHRNA1	SLC2A1	RPL35	JMJD1C	PTCH1	GALNS	TBR1	B3GAT3	RYR1	OFD1	EFNB1	CHST14	SMS	TBCK	UFD1	BUB1B	PIGL	EP300	TALDO1
HP_C1_C2_SUBLUXATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_C1_C2_SUBLUXATION	IDUA	COL2A1	DDR2	MMP2	MADD	ARSL
HP_PROGRESSIVE_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_MUSCLE_WEAKNESS	PRPS1	MAP3K20	MIEF2	POLG	MYOT	PUS1	PEX19	VAPB	ACTA1	GGPS1	PEX10	TPM3	PEX5	NOTCH2NLC	DES	TNNT1	RYR1	PEX2	MLIP	COQ2	PHKA2	LTBP4	PEX13	PLEC	PEX11B	MYL2	TTN	LDB3	COL6A2	PEX16	PEX14	TPM2	MPV17	ITGA7	SIL1	PEX6	ABHD5	POLG2	TWNK	DOLK	CRYAB	PHKG2	PYGM	MT-TL2	YARS2	PEX3	DMD	TPI1	ANO5	GIPC1	PHKB	PEX1	PNPLA2	DYSF	TRAPPC11	SPEG	HACD1	PEX12	COL6A3	VCP	MT-TL1	SELENON	PEX26	TK2	COL6A1	PCNA	MT-TN	MYH7	COL12A1	MT-TE	TBCK	NEB	BIN1
HP_GENERALIZED_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_MUSCLE_WEAKNESS	MAP3K20	MATR3	FKRP	NEK1	MYL1	ADCY5	ACAD9	POMT1	COL12A1	SLC16A2	HTT	SLC12A3	CLCNKB	POMGNT1	MYL2	ACTA1	FGF23	VAPB	PFN1	MORC2	COLQ	SLC18A3	FKTN	CHRNA1	ANG	TBK1	UNC13A	ATXN2	VCP	FUS	PLEC	FIG4	ATP13A2	LDB3	COL13A1	PPARGC1A	PLOD1	RYR1	SDHB	DSE	PRPH	RANBP2	UBA1	SLC25A4	AIFM1	TARDBP	SLC25A1	CHAT	DMD	UBQLN2	MEN1	RAPSN	COL6A1	TREM2	AARS2	SELENON	KCNJ1	SLC5A7	SNAP25	SQSTM1	POMT2	GLE1	TK2	CAPN3	PON1	MTM1	MYH7	CCND1	CRPPA	OPTN	TPM3	CCNF	ERBB4	COL6A2	LAMB2	VAMP1	NEB	HADHA	DCTN1	PRRT2	SDHAF1	MYH2	AGRN	PON2	SDHA	CFAP410	SOD1	PNKD	CHCHD10	SLC2A3	LMOD3	FXYD2	SLC12A1	TPM2	ITGA7	YY1	DAO	HADHB	TWNK	POLG	SDHD	KLHL41	TTN	COA8	PLA2G6	ANXA11	ACY1	COL6A3	GLT8D1	CHRND	SYT2	ORAI1	PON3	HACD1	NEFH	C9orf72	PIGN	GAA	DNAJB6	TAF15	HNRNPA1	ABCB6	MYO9A	EPHA4	CAVIN1	CHMP2B	EXOSC9
HP_LIMB_GIRDLE_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_GIRDLE_MUSCLE_WEAKNESS	MAP3K20	FKRP	SLC25A4	POMT1	MATR3	CFL2	NEB	GFPT1	MYH7	OPA1	ALG2	LRP4	RYR1	MORC2	SLC18A3	TRIM32	ACTA1	DPM3	PLEC	SMN1	LDB3	COL13A1	DGUOK	SGCA	POMK	AGRN	DNA2	CHRNB1	RRM2B	CRYAB	SGCB	SLC25A1	CHAT	TPM2	GYG1	GMPPB	SMCHD1	SCN4A	PNPLA2	SMN2	DYSF	LMNA	MTAP	DAG1	PSAP	TWNK	COL6A3	SLC5A7	GNE	FLNC	VCP	SNAP25	SELENON	KLHL41	AK9	POLG	ANO5	COL12A1	MT-TE	DPAGT1	CHRND	MUSK	COL6A2	LARGE1	VAMP1	TPM3	CHRNA1	COL6A1	MYOT	POMT2	CHRNE	GDAP1	FRG1	GALC	TTN	BICD2	MYL2	LMOD3	BVES	PHKA1	RAPSN	ITGA7	ABHD5	DNAJB6	TNPO3	HNRNPDL	POLG2	DOK7	PHKB	ALG14	SYT2	HACD1	LRIF1	MYO9A	CRPPA
HP_MYALGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYALGIA	MDM4	STIM1	DNASE1L3	CHCHD10	NLRP3	FKRP	VCP	ACP5	ACAD9	MTMR14	CAV3	MOCOS	HPDL	KIT	APC	POMT1	PRDM5	LMNA	IL10	CAPN3	FKTN	PHKA2	TLR4	MVK	MT-TK	MT-CO3	FMR1	MSTO1	DGUOK	CR2	SPTA1	DNA2	TBX1	COX6B1	STAT4	TWNK	RRM2B	GLA	SCN4A	SH3TC2	GP1BB	AMPD1	SPTB	EPB42	DCC	CNBP	CPT2	HLA-DRB1	DMD	TET2	TNFRSF1A	DYSF	RREB1	NTN1	CASQ1	TRAPPC11	IRF4	POLG	SLC4A1	ANO5	HSPG2	PDGFRA	CTLA4	KY	ERAP1	ACADM	POLR3A	MIEF2	CRPPA	PRTN3	CTNNB1	LPIN1	ANKRD55	MYH7	FDX2	PNPLA2	PTPN2	IFNGR1	MEFV	CCDC78	HLA-DPB1	NLRP12	PPARG	BVES	PHKA1	RYR1	POLG2	RBCK1	RAD51	PYGM	IL2RB	ZNF469	DNAJB6	RNASEH1	MTTP	LMNB1	IL2RA	BIN1	VWA1	IL12A-AS1	PRORP	CAVIN1	HNRNPA1	IGKC	ALMS1	SLC25A4	MT-TE	EXT2	TRIM32	HLA-B	HIRA	IL12B	MLX	CLCN1	C4A	PTPN22	DSE	SRSF2	MT-TL1	IL12A	PGAM2	ALDOA	IL23R	CLCNKB	ARVCF	ENO3	ORAI1	PGK1	NOD2	LBR	FLNC	TK2	ALDH4A1	COMT	SVIL	LDHA	SCN9A	TNXB	MYOT	SEC24C	HADHA	CCR1	MYF6	LPIN2	MLIP	DNM1L	NLRC4	OTULIN	OPA1	ACADVL	LEMD3	MATR3	ADA2	KLRC4	IGHG2	EXT1	HADHB	PHKG2	ANK1	MRPS2	DNM2	HLA-DPA1	JMJD1C	PHKB	SDHA	UBAC2	DNAL4	P4HA2	TMEM126B	AMPD3	UFD1	ASXL1	FAS	MT-CO1	CD247	SLC12A3
HP_AXIAL_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AXIAL_MUSCLE_WEAKNESS	MYMX	SELENON	KLHL41	CRYAB	ACTA1	POMT1	MYL1	MYH7	MT-TL2	FKRP	DOK7	NEB	TTN	LAMB2	LARGE1	TPM2	GMPPB	POMT2	DES	RYR1	COLQ	CFL2	COL6A3	SPEG	MT-TL1	COL6A2	BICD2	COL6A1	LMOD3	UNC45B	MT-TN	COL12A1	MYBPC1	KLHL40	LMNA	BIN1
HP_ABNORMAL_HAIRSHAFT_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HAIRSHAFT_MORPHOLOGY	CDH3	RNF113A	SKIC2	ERCC3	GTF2E2	ERCC2	TARS1	NECTIN1	TCHH	KRT85	AARS1	WRN	PEX1	MPLKIP	TGM3	BCS1L	GAN	DSG4	SKIC3	CARS1	CLCN6	KRT25	ASL	GTF2H5	PADI3	HEPHL1	SPINK5	LMNA	ST14	PEX6	NECTIN4	GJA1	MARS1	TP63
HP_ABNORMAL_BONE_STRUCTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BONE_STRUCTURE	SLC4A1	SEMA3E	VPS37D	CYP27B1	POU1F1	BMP1	CTCF	SDHD	IFT43	HECW2	ZBTB20	LMNA	GPC4	LBR	SERPINA1	LTBP4	DUSP6	ZNF699	KISS1R	STAT6	NUP107	FAT4	RNU4ATAC	TERT	HFE	GNPTAB	FZD4	PRKAR1A	LEMD3	CDKN1B	TCIRG1	ASXL1	TRPV4	SEC23B	NSD2	SLC26A2	SFRP4	NAGLU	ZMPSTE24	SETD2	SEC24D	GDF5	GNAS	CYP17A1	TBXAS1	SLC39A8	IL1RN	SRY	NOP10	TAPT1	XYLT2	B4GALT7	TNFRSF11A	CCDC141	ATP7B	AIP	COL10A1	PEX16	IDH1	SKI	NFIX	SLC10A1	POLG	TMEM67	LARS2	NAGA	PALB2	TRAPPC14	COL1A2	ANKLE2	PTH1R	POLR3A	SPARC	TPO	SP7	SATB2	BRCA2	LRP5	DDRGK1	HSD17B4	WNT3A	ANTXR2	TRIP13	USP8	WNK1	TINF2	PRG4	SQSTM1	MAFB	BMPR1B	RIN2	WT1	DKK1	B2M	LONP1	IGF1	FKBP6	DYM	SLC12A1	HNRNPA2B1	KIF7	IL12RB1	RUNX2	HSPG2	RNU7-1	CTSC	CSPP1	FGF17	PEX3	COG1	LHX3	COL2A1	MAD2L2	PIK3CA	CDC73	NDNF	EDNRA	SLC37A4	SLC39A13	ACP5	HBB	SPRY4	SLC11A1	IL12A	SGSH	RECQL4	TRAF3IP1	GNRHR	CEP164	BRIP1	AEBP1	MPL	ANO5	USP48	CAVIN1	DHCR24	TBCE	COL1A1	NDN	P4HB	MIF	EXT2	B3GALT6	GNA11	FBN1	MAN2B1	DPM2	FLNB	LETM1	SLC25A4	GPAA1	TNFSF11	SNORD115-1	NGLY1	FAH	ATP7A	CLPB	PTDSS1	ABCC9	POLR1D	NR0B1	GSC	TCOF1	COL3A1	INTU	SRP54	MMP14	SAMD9	FARSB	SOST	WDR19	GATA4	FLNA	GK	UFSP2	PYCR1	SGMS2	SLC26A9	WNT3	KIF22	CANT1	MCPH1	SLC7A7	CTSK	VAC14	BAZ1B	BMP2	MBTPS2	CCND1	ADCY10	IFT122	VCP	OTX2	NOTCH2	DVL1	PRKACA	FEZF1	ELMO2	WRN	PEX10	EIF4H	PTEN	MTRR	RBL2	MFSD2A	SNX10	NT5E	HAMP	TMEM53	EFL1	FGF8	ANKH	FERMT3	SLC34A1	FAM111A	UNC80	MAGEL2	PHKG2	IFITM5	SRCAP	CEP290	TGFB1	KIF1A	NSMF	COMP	TRIP11	SOX9	DUOX2	ELP1	MMP13	HNRNPH1	TGFBR2	MATN3	SLC35D1	CEP63	PEPD	PLEKHM1	COL5A1	WNT1	GALT	CAV1	SIM1	PIK3CD	IDH2	ACVR1	BUB1	AMER1	WDR11	FANCC	IKBKG	VPS35L	CBS	ERCC6	MGAT2	TYROBP	SNRPN	POLRMT	PRDM5	TSHB	NF1	STAT1	MKRN3	CHD7	NR5A1	STN1	PSMC3IP	GLI3	POLR1C	TRAPPC10	MEG3	CSF1R	MRPS22	AVP	SEMA3A	DCC	OCRL	CTBP1	KLF1	METTL27	TSHR	PHF21A	GLA	CLCA4	POLD1	FGFRL1	TONSL	GJB2	CTNS	BUB1B	OSTM1	TRPS1	IFT80	UROS	GLIS3	CPLX1	PEX1	ALPL	PMM2	LEMD2	BMS1	GTF2H5	WNT7A	RETREG1	DPAGT1	PEX6	BCL7B	GPR35	HSD3B7	SMAD3	SEC23A	NPR2	PEX19	NCF1	CTNNB1	COL7A1	FAM20C	PEX7	KDELR2	PIGV	GLI2	TRPV6	FKBP10	USB1	PPIB	PEX13	PORCN	BMP15	POLR3H	INPPL1	ALG3	COPB2	KRAS	PISD	MED12	IFIH1	FANCI	DKC1	SUFU	BMPER	PIGG	STX3	MLXIPL	FLRT3	HERC2	CRTAP	NEU1	CDH23	CDKN2C	HGSNAT	XRCC2	LRP6	ASAH1	OCA2	HLA-DRB1	NDP	GJA1	HNRNPK	ERCC3	SLC10A7	ELN	FGFR1	FGF23	LAMB3	VPS53	PEX11B	SLC29A3	DDOST	GLB1	SETBP1	PEX12	PROP1	HDAC6	VAMP7	SBDS	DHX37	DLK1	AGPS	SMPD1	RRM2B	BRAF	RPL10	HNF4A	ORC1	KCNJ8	NR3C1	FANCF	HOXA13	DCHS1	SLC2A2	CARS1	HNRNPA1	BUD23	CTC1	AP2S1	PEX2	TYMS	HMOX1	BANF1	MIA3	SH3PXD2B	NDUFAF6	SEMA5A	RNF113A	NOTCH3	MEN1	AGPAT2	HESX1	LIFR	ESR1	MMP1	FANCM	MMEL1	LPIN2	PAPPA2	TTC26	PDE11A	NRAS	HTRA1	MC4R	SMARCD2	SDCCAG8	SERPINH1	CBL	ALG9	AKT1	SLC25A24	GPC3	NLRP3	PIGU	DDR2	CFTR	AIFM1	SOX10	MAP2K1	EHHADH	LAMA3	GALNS	AKR1D1	SLC34A3	B3GAT3	FANCE	ORC6	FANCG	ALX4	ANAPC1	PEX26	HRAS	LMX1B	BAAT	SLC25A19	SMS	BTNL2	FSHR	TP53	TBCK	SC5D	RSPO2	GUSB	MDM4	EXTL3	CYP11A1	IARS2	CYP3A4	FANCB	SH3BP2	STIL	SASS6	ARSL	APC	NSDHL	UBE2T	NHP2	PHC1	PSAP	GATM	ZFPM2	DYNC2I1	PLOD1	IFT140	WDR35	TMEM38B	SPIB	CASR	ENPP1	ATP6V0A2	RSPRY1	NPHP3	KIF14	MMP2	CHEK2	SPIDR	WWOX	CREB3L1	PARN	KCNJ1	CLCN7	COX4I2	TAF1	CEACAM6	HS6ST1	DCAF17	CD96	LAMA5	PCCB	CYP19A1	ADAMTS10	TJP2	UBA2	MTX2	PLEC	HLA-DQB1	DYNC2H1	ASXL2	ARMC5	PLCB3	CHRNG	TXNDC15	IYD	SRC	GCM2	GCLC	KNSTRN	STAT3	AGA	KIAA0586	RAD51C	CYP27A1	DUOXA2	GTF2E2	PTCH1	CA2	ADAMTS2	CENPJ	DLX3	NPM1	FANCA	PCCA	ANOS1	GLE1	GBA1	TNFRSF11B	MTTP	SCARB2	CLIP2	FIG4	NCAPD3	RFWD3	TMEM165	CIT	CYP2R1	TAF13	POU2AF1	PROK2	DMRT3	BUB3	BMP6	EBP	DLL4	SDHB	CCN2	UROD	NAA20	PWRN1	FGFR2	CLCN5	MIR140	GPX4	IL17RD	WRAP53	PDE8B	ERCC8	TG	PWAR1	KCNN4	ATL3	SRSF2	FBLN5	ALG12	OFD1	BRCA1	COL9A3	ATP6V0A1	DMP1	TSPAN12	MBTPS1	ITGB4	CDK6	HBG2	P3H1	PEX5	CHST3	PIGY	TCF4	IRF5	ATP6V0A4	PIGT	UNC45A	SLC6A14	CDK5RAP2	PHEX	RMRP	HLA-DQA1	GNRH1	FUT8	ASPM	ATRX	RB1	MALT1	CCN6	XYLT1	POF1B	ERCC4	MAP3K7	ATP8B1	LRRK1	BSCL2	G6PC1	CEP135	RNF125	THRB	EXT1	CDKN1A	GGCX	ALDH18A1	RAB3GAP1	PROKR2	SNRPB	CEACAM3	FOXA2	STX1A	ANTXR1	VDR	SDHC	SMARCAL1	TERC	TREM2	ABCC6	KIT	THPO	AFF3	PDGFRB	FOS	CTNND2	HJV	PHKA2	HPGD	ZNF408	SCN9A	SOX3	MCM7	PYCR2	SLCO2A1	SLC9A3	STX16	GFI1	SIK3	GTF2IRD1	TENT5A	TET2	EXOC6B	COL11A2	POC1A	TWNK	KISS1	IHH	FBN2	CDKN2B	RTEL1	SLC34A2	RPL11	PDLIM4	LFNG	CTDP1	ESR2	BGN	FKBP14	KNL1	DHCR7	MPLKIP	SYK	MGP	PPARG	LHX4	CALCR	EED	HGD	GALNT3	DCTN4	RFC2	FANCD2	PRLR	TBL2	GEMIN4	TRIM37	TRPV3	TACR3	ZNF469	TAC3	GTF2I	KCNH1	DYNC2I2	TNPO3	TRAPPC2	NKX3-2	WDR62	TNFSF15	NELFA	CYB5A	ADAMTSL2	NDUFAF1	SLC17A5	ELANE	DNAJC30	NPAP1	PTCH2	PERP	CEP57	COL5A2	GNPAT	SLC39A14	IER3IP1	POLE	USF3	BNC1	MITF	HMGA2	SNORD116-1	SALL4	SLC35A2	CCDC134	NPHP4	TARS1	IFT52	CCR6	FN1	EIF2AK3	DNAJC21	GATA1	MTAP	POLR1B	SLC5A5	SLC9A3R1	AGXT	IRX5	ARL6IP6	MAP3K1	GJB6	HBG1	ZSWIM7	PLOD2	GSTM3	ERCC2	MST1	PEX14	GORAB	LAMC2	KL	SLX4	NAB2	PDE4D	TCF12	PLOD3	GTF2IRD2	LIMK1	FANCL	USP9X	CEP152	PIGL	CRIPT	HHAT	RTL1	CDKN1C	TOM1	TMEM270	RUNX1	SEMA4D	METTL5	TRMT10A	INVS	LRP4	POLG2	PHKB	PYGL	ALB	KLLN	NPHP1	RAD51	IQCB1	PRKG2
HP_ELEVATED_CIRCULATING_CATECHOLAMINE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CIRCULATING_CATECHOLAMINE_LEVEL	SDHD	SLC25A11	SDHC	VHL	CCND1
HP_ABNORMAL_ENCHONDRAL_OSSIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ENCHONDRAL_OSSIFICATION	VPS35L	EXTL3	IARS2	ABCC6	CYP27B1	POU1F1	ARSL	TSHB	TRIP11	B3GALT6	GPC4	LBR	LEMD3	MEG3	RNU4ATAC	DYNC2I1	CANT1	CTBP1	PRKAR1A	SLC26A2	WDR35	TSHR	TRPV4	PEX26	SETD2	GDF5	SIK3	FGFRL1	TONSL	GJB2	PEX3	COL10A1	PEX16	EXOC6B	COL11A2	EBP	IFT80	PEX1	COMP	DYM	CD96	IHH	HSPG2	PEX6	CYP19A1	SLC34A2	PTH1R	LFNG	FLNA	ALPL	TPO	DYNC2H1	DDRGK1	BGN	PEX19	IYD	PEX7	DHCR7	BMPR1B	MGP	PIGV	LONP1	KIAA0586	FLNB	KIF7	DUOXA2	RUNX2	SLC35D1	PTCH1	PEX13	CSPP1	FGFR2	LHX3	INPPL1	PISD	KCNH1	DYNC2I2	TRAPPC2	SUFU	BMPER	PROP1	COL2A1	NEU1	NKX3-2	FIG4	PEX2	ENPP1	CLCN5	SRP54	CYP2R1	SOX9	PTCH2	SLC10A7	LETM1	CPLX1	LHX4	PEX11B	MIR140	GPX4	TG	GSC	PEX12	NSD2	DLK1	COL9A3	AGPS	SBDS	MBTPS1	UFSP2	ORC1	PEX5	PEX10	EIF2AK3	CHST3	DNAJC21	WNT3	HOXA13	NFIX	KIF22	MATN3	SLC5A5	VAC14	RMRP	GJB6	HESX1	PEX14	ESR1	PDE4D	XYLT1	RTL1	GPC3	THRB	DDR2	GGCX	NSDHL	SLC34A3	ORC6	DUOX2	SNRPB	VDR	RSPO2	GUSB
HP_LAMINA_LUCIDA_CLEAVAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LAMINA_LUCIDA_CLEAVAGE	ITGB4	KRT14	PLEC	ITGA6	COL7A1	LAMA3	KRT5	LAMC2	LAMB3	COL17A1
HP_3_METHYLGLUTARIC_ACIDURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_3_METHYLGLUTARIC_ACIDURIA	HMGCL	HTRA2	TIMM50	DNAJC19	OPA3
HP_IMPAIRED_LYMPHOCYTE_TRANSFORMATION_WITH_PHYTOHEMAGGLUTININ	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_LYMPHOCYTE_TRANSFORMATION_WITH_PHYTOHEMAGGLUTININ	IL2RG	ZAP70	MYD88	RMRP	STAT1	WAS	TTC7A	MGAT2	MCM10	PTPRC	JAK3	KLHDC8B
HP_DECREASED_CIRCULATING_RENIN_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_RENIN_LEVEL	AVPR2	CYP11B1	SCNN1G	HSD11B2	SCNN1B	KCNJ5	CYP17A1	NR3C2	POR	CACNA1D
HP_AMINOACIDURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMINOACIDURIA	ASPA	CBS	AASS	CYP27B1	ABCD4	FAH	TRNT1	GLYCTK	MMACHC	GLDC	PPM1B	GUCY2D	SLC6A19	GSS	CLCN5	ETFA	MCCC2	GATM	SLC2A2	SLC25A13	DDB2	TNFRSF11A	EHHADH	OCRL	SLC6A20	ATPAF2	ARG1	ALDH6A1	SLC36A2	XPA	CTNS	ERCC2	MTRR	PREPL	KYNU	NDUFAF6	BCS1L	PRODH	HCFC1	GALE	FOCAD	DMGDH	HNF4A	SLC7A9	LETM1	ATP7B	SUOX	CAMKMT	FARS2	SLC34A1	NFS1	ALDH5A1	PEX1	UMPS	SARDH	RRM2B	SPINK5	SLC7A7	CLTRN	PCCB	SLC3A1	ALDH4A1	HIBCH	ERCC3	IVD	CTH	FH	HAL	PLOD2	LIPT1	TK2	CPS1	LMBRD1	DGUOK	ERCC4	GCLC	GCSH	GPHN	SLC1A1	SURF1	SLC6A18	FTCD	ACADM	NGLY1	VIPAS39	DHTKD1	ETFDH	SLC25A15	OAT	NAGA	PEX5	MT-TN	MTHFR	VPS33B	MMADHC	SLC19A2	HGD	XPC	NFU1	GEMIN4	ALDOB	NEU1	CASR	MTR	OTC	ETFB	COA8	SLC35A1	PCCA	PRDX1	MARS1	CYP2R1	SLC13A3	TNFRSF11B	SUCLA2	MOCS1	GALT	ASL	TRPV6	MOCS2	PET100	OPLAH	ERCC5	AMT
HP_INCREASED_VLDL_CHOLESTEROL_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_VLDL_CHOLESTEROL_CONCENTRATION	LCAT	APOA5	UBR1	LDLRAP1	LPL
HP_ARTHRALGIA_OF_THE_HIP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTHRALGIA_OF_THE_HIP	MATN3	COL9A3	COL9A1	COL2A1	TRAPPC2	SLC26A2	COMP	COL9A2	B2M
HP_ABNORMAL_FEMORAL_NECK_HEAD_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FEMORAL_NECK_HEAD_MORPHOLOGY	EXTL3	ERCC6	TRPV4	MGAT2	IARS2	COL2A1	POU1F1	HS2ST1	ARSL	TREX1	TSHB	B3GALT6	MMP9	AFF3	LMNA	UFSP2	IFNGR1	COL9A2	FN1	GLI3	NANS	POP1	MEG3	CANT1	GNPTAB	DVL3	IFT140	EXT1	SLC26A2	FZD2	XYLT1	TCIRG1	MEGF8	TSHR	SLC12A2	GLB1	ARID1B	ENPP1	TGFB1	ATP6V0A2	RSPRY1	WNT5A	TONSL	COL1A2	PEX5	SLC39A13	GJB2	COL11A2	CCDC47	TRAF3IP1	B4GALT7	COL10A1	TRIP11	EXOC6B	TRPS1	RMRP	FGFR3	POC1A	CHD4	COMP	RINT1	HNRNPR	DYM	TINF2	IHH	TMEM67	HSPG2	FLNA	PTH1R	NRCAM	TPO	MTX2	DDRGK1	CREBBP	PCYT1A	BGN	CFAP410	IYD	HSPA9	NGLY1	AIFM1	CRKL	PRG4	KDELR2	COL1A1	KIAA0586	HDAC4	ARCN1	EED	DUOXA2	TBX4	COG8	RUNX2	PCNT	SKIC3	CSPP1	TGFB3	COG1	LHX3	SMARCAL1	IFIH1	TRAPPC2	INPP5K	RNU4ATAC	TMEM251	SHOX	PROP1	PDE4D	SLC2A10	PIK3C2A	CRTAP	NKX3-2	EXT2	COL9A1	MAPK1	BMPR1B	ADAMTSL2	SRP54	MAN2B1	IDUA	COL9A3	SLC10A7	DVL1	ATRX	CCN6	CSGALNACT1	BCR	STXBP1	SRCAP	LHX4	ACAN	GNPTG	ADAMTS2	RAB23	ABCC9	FKBP10	TG	SLC35A2	FUCA1	COG4	LMX1B	ATP7A	NEK9	SBDS	RBM8A	DLK1	DMP1	SERPINF1	RAB33B	ORC1	KCNJ8	EIF2AK3	CHST3	RPL13	DNAJC21	ZMPSTE24	NFIX	KIF22	RAD21	CTC1	MATN3	UNC45A	SLC5A5	FLNB	CDC6	GJB6	RAB3GAP2	GTF2E2	HESX1	SIL1	PLOD3	TMEM53	RTL1	EFL1	MMP13	LBR	EZH2	RET	BRF1	COL11A1	GALNS	OTUD5	LRP5	ORC6	DUOX2	HNRNPH1	RPS6KA3	ACVR1	EP300
HP_ABNORMAL_FEMORAL_NECK_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FEMORAL_NECK_MORPHOLOGY	EXTL3	ERCC6	MGAT2	COL2A1	B3GALT6	MMP9	AFF3	LMNA	UFSP2	COL9A2	FN1	GLI3	NANS	POP1	MEG3	CANT1	GNPTAB	DVL3	IFT140	EXT1	SLC26A2	FZD2	XYLT1	TCIRG1	MEGF8	SLC12A2	GLB1	ARID1B	ENPP1	TGFB1	ATP6V0A2	RSPRY1	WNT5A	TONSL	COL1A2	PEX5	SLC39A13	GJB2	CCDC47	B4GALT7	COL10A1	TRIP11	EXOC6B	RMRP	FGFR3	POC1A	CHD4	COMP	HNRNPR	IHH	TMEM67	HSPG2	FLNA	PTH1R	NRCAM	TRPV4	MTX2	DDRGK1	PCYT1A	BGN	CFAP410	NGLY1	AIFM1	CRKL	PRG4	KDELR2	COL1A1	ARCN1	EED	TBX4	COG8	RUNX2	PCNT	TGFB3	COG1	DYM	IFIH1	TRAPPC2	INPP5K	TMEM251	SHOX	PDE4D	SLC2A10	CRTAP	NKX3-2	EXT2	COL9A1	MAPK1	BMPR1B	ADAMTSL2	SRP54	MAN2B1	IDUA	COL9A3	SLC10A7	DVL1	ATRX	CCN6	CSGALNACT1	BCR	STXBP1	ADAMTS2	RAB23	ABCC9	FKBP10	SLC35A2	FUCA1	COG4	LMX1B	ATP7A	RBM8A	DLK1	SBDS	DMP1	SERPINF1	RAB33B	ORC1	KCNJ8	EIF2AK3	CHST3	RPL13	DNAJC21	ZMPSTE24	NFIX	RAD21	CTC1	KIF22	GJB6	RAB3GAP2	GTF2E2	FLNB	SIL1	TMEM53	RTL1	MMP13	LBR	EZH2	COL11A1	GALNS	OTUD5	ORC6	HNRNPH1	PIK3C2A	MATN3	RPS6KA3	ACVR1	RNU4ATAC
HP_ABNORMAL_FEMORAL_HEAD_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FEMORAL_HEAD_MORPHOLOGY	IDUA	EXTL3	TRPV4	DVL1	IARS2	COL2A1	POU1F1	CCN6	HS2ST1	TREX1	TSHB	B3GALT6	UFSP2	IFNGR1	SRCAP	LHX4	ACAN	POP1	GNPTG	ADAMTS2	TG	GLB1	SRP54	DVL3	IFT140	SLC26A2	FZD2	TSHR	NEK9	SBDS	CREBBP	RSPRY1	WNT5A	ADAMTSL2	TONSL	RAB33B	COL1A2	PEX5	SLC39A13	COL11A2	FN1	TRAF3IP1	EXT1	CHST3	COL9A1	DNAJC21	TRPS1	KIF22	COMP	RINT1	MATN3	UNC45A	SLC5A5	CANT1	DYM	TINF2	IHH	CDC6	COL10A1	RAB3GAP2	TPO	MTX2	HESX1	IYD	HSPA9	AIFM1	SIL1	PRG4	COL1A1	PLOD3	KIAA0586	HDAC4	EFL1	DUOXA2	TBX4	PCNT	SKIC3	CSPP1	LHX3	RET	BRF1	SMARCAL1	TRAPPC2	INPP5K	RNU4ATAC	DUOX2	PROP1	SLC2A10	PIK3C2A	ATP7A	EP300
HP_STEPPAGE_GAIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STEPPAGE_GAIT	COA7	IGHMBP2	FHL1	ATL3	ADSS1	MPZ	GRIN2A	HSPB1	MYH7	NEB	TIA1	NEFL	SCO2	SLC30A10	MFN2	SQSTM1	DHH	HINT1	MARS1	SPTLC2	GBF1	PMP22	LMNA	KLHL9	EGR2	ATP1A1	HARS1	GNB4	PMP2	TDP1	PRX	MTRFR	PLEKHG5	PDK3	VCP	GDAP1	TTN	CLIC2	SLC25A46	POLG	RAB7A	HSPB3	MTTP	COX6A1	SBF2	KIF1B	GNE	GAN	INF2	LRSAM1	SPTLC1	BICD2	KARS1	DCAF8	ATL1
HP_AXONAL_DEGENERATION_REGENERATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AXONAL_DEGENERATION_REGENERATION	MPZ	MFN2	KIF1B	SLC12A6	LRSAM1	RAB7A	LMNA	GBF1
HP_DECREASED_NUMBER_OF_PERIPHERAL_MYELINATED_NERVE_FIBERS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_NUMBER_OF_PERIPHERAL_MYELINATED_NERVE_FIBERS	FLRT1	WNK1	HK1	MPZ	GDAP1	APTX	FGD4	NTRK1	DNM2	SH3TC2	SPG11	NEFL	PNPT1	TYMP	LMNA	POLG	EGR2	KLC2	MPV17	TRIM2	TFG	PMP22	RETREG1	MME	JPH1	RRM2B	PRX	SPTLC1	PLEKHG5	DNMT1	SCN9A	SACS	LIG3	RAB7A	RAI1	DHH	TWNK	ELP1	SBF2	KIF1B	KIF1A	GAN	HSPB8	NGF	GJB1	MFN2	VPS13A	MTRFR
HP_HYPERTROPHIC_NERVE_CHANGES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTROPHIC_NERVE_CHANGES	PRX	LITAF	MPZ	PMP22	GDAP1	EGR2
HP_ONION_BULB_FORMATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ONION_BULB_FORMATION	FIG4	PRX	MTRFR	LITAF	MPZ	SLC12A6	GDAP1	LMNA	EGR2	SACS	NEFL	PRPS1	PMP22	FGD4	SBF1	DNM2	GBF1	NDRG1	SH3TC2	HYCC1	COX6A1	SBF2	KIF1B	INF2	GJB1	GNB4	PMP2	MFN2	ARHGEF10	DCAF8
HP_DECREASED_NUMBER_OF_LARGE_PERIPHERAL_MYELINATED_NERVE_FIBERS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_NUMBER_OF_LARGE_PERIPHERAL_MYELINATED_NERVE_FIBERS	MME	SH3TC2	TWNK	RRM2B	SPTLC1	ELP1	PLEKHG5	HK1	NEFL	PNPT1	TYMP	LMNA	GDAP1	POLG	HSPB8	PRX	SACS	LIG3	APTX
HP_EASY_FATIGABILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EASY_FATIGABILITY	STIM1	SLC25A1	HNRNPK	MYPN	MAP3K20	SLC25A4	POMT1	CHRND	GFPT1	MTMR14	ALG2	LRP4	COLQ	SLC18A3	ISCU	PRKAR1A	TYMP	TPM2	POLG	COL13A1	SDHB	AGRN	JAK2	CHRNB1	CHRNA1	RRM2B	TDP2	AGK	BAG3	CHAT	LIG3	DCC	SCN4A	ATP13A3	PNPLA2	RAPSN	AIP	HSPB3	NTN1	CASQ1	GMPPB	TWNK	SLC5A7	SNAP25	SELENON	PYROXD1	AK9	SYT2	DNM2	NFE2L2	DPAGT1	MUSK	RYR1	LDHA	CDH23	CALR	MEN1	LAMB2	VAMP1	FKBP14	TPM3	NEB	MICU1	SDHAF1	CHRNE	SDHA	CCN6	SURF1	MYL2	MGME1	ITGA7	RAD51	SDHD	DOK7	CWF19L1	ACTA1	TET2	POLG2	ALG14	TGFB1	DNAL4	HACD1	TMEM126B	MPL	MYO9A	GTPBP3
HP_SENSORY_AXONAL_NEUROPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SENSORY_AXONAL_NEUROPATHY	CAPN1	TWNK	POLG	NEFH	FXN	PRICKLE1	CTSD	DHX16	VCP	GJC2	ATP13A2	PIEZO2	KLC2	MFN2	HINT1	TK2	SHMT2	CCT5	MORC2	HNRNPA1	SAMD9L	COX20	OPA1	AIFM1	GAN	LMNA	XRCC4	PLEKHG4	FGF14	ATL3	ACOX1	HEXB	HNRNPA2B1	DGUOK	PLD3	SYNE1
HP_GOWERS_SIGN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GOWERS_SIGN	ACTA1	GFPT1	SGCA	TK2	MYPN	HACD1	GATM	CAV3	CFL2	MICU1	ALG2	ORAI1	FKTN	PNPLA2	RYR1	TRIM32	BICD2	PLEC	TPM2	TTN	COL6A2	NEFL	SGCG	PNPLA8	INPP5K	CHRNE	DPM3	POMK	DNA2	CHRNA1	POMT1	DMD	TRPV4	SYNE1	ITGA7	VMA21	SGCB	CHKB	DOK7	DNAJB6	SELENON	ALG14	MUSK	SECISBP2	RAPSN	POMGNT2	TAFAZZIN	TRAPPC11	DAG1	POMGNT1	SPEG	COL6A3	MSTO1	ASAH1	COL6A1	PYROXD1	UNC45B	COL12A1	TPM3	LAMA2	DPAGT1	BIN1	SGCD	GMPPB	ACBD5
HP_FIRST_DORSAL_INTEROSSEI_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FIRST_DORSAL_INTEROSSEI_MUSCLE_WEAKNESS	REEP1	GARS1	PRRT2	JAG1	BSCL2	CACNA1A	SCN1A	ATP1A2
HP_THENAR_MUSCLE_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THENAR_MUSCLE_ATROPHY	REEP1	IDUA	GARS1	SPG11	COMP	PLOD3	PDK3	BSCL2	SLC39A13	NEB	SLC5A6	GBF1
HP_MUSCLE_SPASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_SPASM	STIM1	CHCHD10	PODXL	TFG	MATR3	FKRP	NEK1	VCP	CAV3	HSPB1	HPDL	POMT1	LRP12	NEFH	MFN2	GBF1	FKTN	TBK1	UNC13A	ATXN2	PHKA2	FUS	NEFL	RTN2	MT-CO3	PPARGC1A	PRKN	MORC2	PRPH	DGUOK	GNA11	DNA2	STX16	RRM2B	TRPM7	SCN4A	SH3TC2	AMPD1	CPT2	FBXO38	DMD	BSCL2	TREM2	REEP1	KCNJ1	CASQ1	TWNK	LRRK2	GLE1	PINK1	POLG	VPS13C	ACADVL	SYNJ1	HEXB	GMPPB	ACADM	GFM2	GFPT1	CRPPA	KPNA3	PGK1	ERBB4	VAPB	KY	FDX2	GLA	PON2	CFAP410	GNAS	ATXN3	SOD1	SLC12A1	CASR	UCHL1	CHRNE	FLVCR1	DLD	PUS7	PYGM	DOK7	ANXA11	GLT8D1	MT-ATP6	COL4A1	COL1A1	PON3	AR	TAF15	RYR1	CYP17A1	TRAPPC11	HHAT	TRPM6	LAMA2	CHMP2B	VPS35	SLC25A4	OPA3	MYH7	COL5A2	SLC12A3	ALG2	SNCA	GARS1	PFN1	ISCU	CARMIL2	ANG	FIG4	SMN1	ATP1A1	DNAJC13	HTRA2	PGAM2	DCTN1	MAP3K20	TARDBP	CLCNKB	ORAI1	KCNJ18	PFKM	CACNA1S	LPIN1	UBQLN2	SMN2	GIGYF2	SQSTM1	ATXN1	EIF4G1	ALDH4A1	PON1	DPAGT1	SVIL	ATP2A1	OPTN	STT3A	FAR1	MPZ	CCNF	ALDH18A1	UBAP1	HADHA	MICU1	WASHC5	PIGG	CADM3	HINT1	SLC16A1	MLIP	LAMP2	DAO	HADHB	PHKG2	PARK7	GBA1	POLG2	LDHA	PHKB	KCNA1	ALG14	PMP22	PYGL	C9orf72	COL5A1	DNAJC6	HNRNPA1	ABCB6	AMPD3	EPHA4	MT-CO1	GBE1	GABRA3
HP_SYRINGOMYELIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYRINGOMYELIA	NRAS	RBM8A	DDR2	CREBBP	SETD2	FUZ	SH2B1	NOTCH3	ABCA1	IL11RA	NOTCH2	NFIA	DDHD2	FOXF1	ACY1	FBLN1	EXT2	RAI1	DKK1	LEMD3	TBX6	HMGA2	CCNQ	CTNNB1	KDM1A	RUNX2	EXT1	EP300
HP_ABNORMAL_SYNAPTIC_TRANSMISSION_AT_THE_NEUROMUSCULAR_JUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SYNAPTIC_TRANSMISSION_AT_THE_NEUROMUSCULAR_JUNCTION	KLHL41	SLC25A1	TFG	MYPN	MAP3K20	SNAP25	MATR3	CACNA1S	NEK1	ACAD9	NEB	GFPT1	NOTCH2NLC	ALG2	DES	LRP4	VAPB	PFN1	COLQ	SLC18A3	CHRNA1	ANG	TBK1	UNC13A	ATXN2	FUS	ACTA1	FIG4	TPM2	LDB3	MT-CO3	COL13A1	PPARGC1A	MTM1	PRPH	AGRN	CHRNB1	TP53	TARDBP	CASR	VCP	ORAI1	BRAF	CHAT	GIPC1	STIM1	GMPPB	KCNE3	LPIN1	SCN4A	UBQLN2	NR3C1	TREM2	DKK1	RRM2B	CFL2	SLC5A7	FLNC	SQSTM1	SELENON	GLE1	AK9	PON1	SLC34A2	DPAGT1	CHRND	MUSK	ACADM	KBTBD13	OPTN	POMT1	ALG14	CCNF	ERBB4	LAMB2	LARGE1	VAMP1	TPM3	ATRX	DCTN1	NGLY1	USP8	POMT2	CHRNE	HINT1	PON2	CFAP410	SOD1	MYL2	CHCHD10	LMOD3	RAPSN	ITGA7	DAO	PLEC	KCNK9	FKRP	DOK7	COA8	ANXA11	RNASEH1	GLT8D1	CASQ1	SYT2	CDH23	TOE1	PON3	HACD1	MINPP1	NEFH	C9orf72	SYNE1	USP48	TAF15	HNRNPA1	MYO9A	EPHA4	RYR1	GNA11	MT-CO1	CHMP2B
HP_PARESTHESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARESTHESIA	PMS1	GNAS	HPDL	OPA3	HMBS	IL10	PRNP	SLC12A3	UROD	MFN2	KIF5A	SLC2A1	ATP1A2	TRIM32	HLA-B	PMP22	NEFL	TLR4	TYMP	POLG	TP53	C4A	THPO	SLC26A2	GNA11	IL12A	STAT4	STX16	TET2	RRM2B	IL23R	CLCNKB	MSH2	CASR	CALR	AIP	MEFV	HEXB	LIG3	FAN1	HLA-DRB1	MEN1	APP	KRT14	SEPTIN9	GATA1	MSH6	KCNJ1	PTPN22	UROS	COMP	GABRG2	ALAD	SRPX2	EPCAM	RPS20	SLC19A2	SPTLC2	KRAS	ATXN1	MPL	JAK2	ERAP1	CTDP1	SBF2	CCND1	GALC	GRIN2A	TGFBR2	CUBN	PMS2	HLA-DQB1	MLH1	CCR1	HINT1	GLA	SCYL1	IFNGR1	SERPING1	BMPR1A	MTHFR	DEPDC5	NAGLU	SEMA4A	SLC12A1	MLH3	YY1	KLRC4	CBLIF	NPRL3	PIK3CA	NAGA	NPRL2	SCN4A	PRRT2	LITAF	VCP	ATL1	SH2B3	CACNA1A	TRAPPC2	TNFRSF1A	TK2	UBAC2	PDCD1	GPR101	GNA14	P4HA2	LMX1B	VWA1	KRT5	IL12A-AS1	FAS	GBE1	LIFR	SCN1A
HP_DECREASED_MINIATURE_ENDPLATE_POTENTIALS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_MINIATURE_ENDPLATE_POTENTIALS	CHRNA1	CHAT	CHRNE	CHRND	AK9	CHRNB1	RAPSN	DOK7	SCN4A	LRP4	COL13A1	AGRN	MUSK
HP_EMG_DECREMENTAL_RESPONSE_OF_COMPOUND_MUSCLE_ACTION_POTENTIAL_TO_REPETITIVE_NERVE_STIMULATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMG_DECREMENTAL_RESPONSE_OF_COMPOUND_MUSCLE_ACTION_POTENTIAL_TO_REPETITIVE_NERVE_STIMULATION	CHRNA1	GFPT1	CHRNE	MYL1	CHRNB1	ALG14	NOTCH2NLC	LAMB2	DPAGT1	DOK7	ALG2	SCN4A	LRP4	RAPSN	RYR1	CHRND	COLQ	CHAT	SPEG	GMPPB	TTN	AK9	SYT2	AGRN	COL13A1	BIN1	MUSK
HP_DISTAL_SENSORY_IMPAIRMENT_OF_ALL_MODALITIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_SENSORY_IMPAIRMENT_OF_ALL_MODALITIES	NAGA	RNF170	CCT5	SPTLC1	HK1	DHH	SPTLC2	ATL1	HINT1	MFN2
HP_ATLANTOAXIAL_ABNORMALITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATLANTOAXIAL_ABNORMALITY	COMP	POLR3A	B3GALT6	CHST14	DDR2	NFIX	FKBP14	DYM	ARSL	GNPTAB	COL2A1	DSE	RMRP	GATA1
HP_ATLANTOAXIAL_DISLOCATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATLANTOAXIAL_DISLOCATION	GNPTAB	COMP	B3GALT6	CHST14	NFIX	DSE	RMRP
HP_SPINAL_CANAL_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPINAL_CANAL_STENOSIS	IARS2	ARSL	RERE	PRKAR1A	GABRD	IDS	KANSL1	UBE4B	PDE4D	CASZ1	PRDM16	LUZP1	TTR	EXTL3	IDUA	PRKCZ	SPEN	KIAA0586	TBCE	FGFR3	SKI	NOG	CSPP1	HSPG2	ENPP1	RRAS2	DMP1	PDPN	AIP	KCNAB2	AKT1	GPR101	MMP23B	RIPPLY2	ADAMTS10	PHEX	FBN1	ZNF341	PHF6
HP_CORONAL_CLEFT_VERTEBRAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORONAL_CLEFT_VERTEBRAE	COL11A2	SLC10A7	FLNB	ALDH1A2	IARS2	COL2A1	LONP1	CSGALNACT1	TRPV4	ARSL	LAMA5	TRIP11	PEX7	HSPA9	SLC26A2	CHST3	HSPG2
HP_BACK_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BACK_PAIN	SMARCE1	COL2A1	HLA-B	VCP	FAR1	HMBS	TCIRG1	SLC2A9	SPTBN1	ALDH18A1	SMAD4	TMEM43	PALB2	BRCA1	TRAF7	SUFU	HGD	NAB2	BRCA2	CAPN3	WRN	VANGL1	PIK3CA	BAP1	STAT6	TERT	CDKN2A	LMX1B	LMNA	CPOX	SMARCB1	AKT1	TBX18	EMD	HTRA1	KRAS	CFH	ANXA11	SYNE2	ABCD1	MESP2	TP53	ATP7B	DLL3	CCND1	RABL3	NF2	FLI1	SEC63	CD46	CFI	LRP5	PLEKHM1	FHL1	RASA1	PALLD	TRAPPC2	HELLPAR	SMO	SLC22A12	CLCN7	SPAST	TBX6	NKX3-2	MATN3	PRKCSH	PPOX	SYNE1	PDGFB	POLR3GL	VHL
HP_LOW_BACK_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_BACK_PAIN	ALDH18A1	STAT6	ANXA11	SPAST	COL2A1	TBX6	HGD	FAR1	NAB2	WRN	HTRA1
HP_VERTEBRAL_SEGMENTATION_DEFECT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERTEBRAL_SEGMENTATION_DEFECT	EIF5A	FKRP	CHRNG	ABCC6	SEMA3E	VPS37D	LRP4	TMCO1	HES7	FGFR2	GPC4	KYNU	FLNA	GLI3	MEOX1	MAP3K7	MEG3	WASHC5	FRAS1	CHRM3	SALL4	CTBP1	METTL27	DVL3	MBD5	FZD2	COL2A1	MNX1	WNT5A	FGFRL1	IL1RN	DCC	ZIC3	GTF2IRD1	MESP2	AFF4	ANKRD11	NTN1	DKK1	EBP	CHD4	GDF6	TAF1	JAG1	WNT7A	FREM2	MYH3	CHRND	KRAS	LFNG	PAICS	FANCB	VANGL1	BCL7B	MLXIPL	H3-3B	ASXL2	NADSYN1	NOTCH3	NCF1	CHN1	HGD	PTCH2	NALCN	PTCH1	FKBP6	MBTPS2	SMAD4	RFC2	HNRNPK	RAD51	TBL2	COG1	FLNB	GTF2I	CHD7	SOX5	SUFU	BMPER	TMEM251	ATP6V1B2	CLIP2	AEBP1	GDF3	KANSL1	MAFB	MID1	ROR2	STX1A	ENPP1	FGFR1	DNAJC30	TBC1D24	DVL1	LETM1	CPLX1	TBX2	IKBKG	DLL3	ATRX	NOG	TBX6	KDM6A	KMT2D	CAPN15	STAG2	CDC45	NSD2	MYO18B	RBM8A	DLK1	CDK10	MADD	SOX2	TNNT3	ORC1	FGD1	CDH11	FN1	GPC3	FANCI	SF3B2	ASH1L	BUD23	B3GLCT	RAD21	POR	BAZ1B	TNNI2	ELN	CCDC22	FUZ	WNT4	NRAS	SON	GRIP1	SIX6	TPM2	PUF60	EIF4H	GTF2IRD2	LIMK1	HRAS	RTL1	NXN	TMEM270	CHRNA1	GDF5	RIPPLY2	DNAL4	HOXD13	ACVR1	WBP11
HP_THORACOLUMBAR_KYPHOSCOLIOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACOLUMBAR_KYPHOSCOLIOSIS	GNPTAB	CCN6	POP1	LHX3	MGAT2	NEPRO	SLC26A2	CDH11
HP_CNS_HYPOMYELINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CNS_HYPOMYELINATION	PHGDH	PLP1	C2orf69	SPATA5	RARS1	MTHFS	GJC2	POLR3A	GAN	SNIP1	PIGY	SPG11	RNF220	DDOST	EPRS1	NKX6-2	NARS2	SLC1A4	PIGV	EIF2B2	SLC33A1	EXOC2	CYB5A	ADSL	TUBB4A	EIF2B3	BCAP31	EIF2B5	SMPD4	PI4KA	PURA	PGAP2	GABRA2	LEMD2	HEXB	DPAGT1	TIAM1	EXOSC5	CYB5R3	PARS2	PYCR2	GLUL	ELOVL1	CLDN11	GRIK2	YIF1B	VPS11	GABRA5	STXBP1	POLR1C	POLR3B	ATP6V1A	SOX10	AARS1	SPTLC1	INTU	WDR26	ALS2	TTC26	PIGW	TBCD	HYCC1	SPTAN1	RMND1	QARS1	FUS	PGAP3	EIF2B1	DYRK1A	NMNAT1	AHCY	MED27	PIGO	GDAP1	EIF2B4	PEX13	CHKA	TMTC3	CNTNAP1	SIGMAR1	ALG2	SLC25A12	TRAPPC11	GRM7	PRKDC	DALRD3	DARS1	PIGL	ACBD5
HP_DECREASED_SIZE_OF_NERVE_TERMINALS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SIZE_OF_NERVE_TERMINALS	CHRNA1	GFPT1	CHRNE	COLQ	CHRND	AK9	LAMB2	CHRNB1	RAPSN	DOK7	SCN4A	LRP4	COL13A1	AGRN	MUSK
HP_EMG_CHRONIC_DENERVATION_SIGNS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMG_CHRONIC_DENERVATION_SIGNS	PSAP	SPG7	SLC12A6	VCP	SH3TC2	PLA2G6	OPA1	SCO2	FBXO38	MFN2	ARSA	SMN2	HINT1	MPV17	SCYL2	ERGIC1	HNRNPA1	SMN1	HSPB8	COL25A1	ALS2	ASAH1	TBCK	HNRNPA2B1	DCAF8	PRPS1	TBCE	HSPB1
HP_EMG_NEUROPATHIC_CHANGES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMG_NEUROPATHIC_CHANGES	CHCHD10	IGHMBP2	SMN1	HSPB8	PSAP	SPG7	SLC12A6	ARSA	VCP	NEB	OPA1	SCO2	MFN2	MYH7	HINT1	MPV17	GBF1	SCYL2	ERGIC1	NOP56	SPG11	IBA57	COL25A1	VRK1	LDB3	HNRNPA2B1	SYNE1	UBA1	HSPB1	ATP7A	NEFH	PNPT1	SH3TC2	GDAP1	PLA2G6	ANO5	FBXO38	SMN2	HSPB3	TPP1	VAPB	HNRNPA1	PMP22	PLEKHG5	ACTA1	DYNC1H1	ALS2	GJB1	ASAH1	TBCK	VPS13A	DCAF8	PRPS1	TBCE
HP_AXONAL_LOSS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AXONAL_LOSS	FIG4	NDRG1	RFC1	ASCC1	ADPRS	SURF1	MOCS1	UBTF	LMNA	INF2	MOCS2	BAG3	SLC12A6	TRIP4	GJB1	UBQLN2	NGLY1	GDAP1	TYROBP
HP_COLD_INDUCED_MUSCLE_CRAMPS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COLD_INDUCED_MUSCLE_CRAMPS	CHCHD10	REEP1	CPT2	GARS1	BSCL2	PMP22	MPZ
HP_AXONAL_REGENERATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AXONAL_REGENERATION	GDAP1	NEFL	JPH1	GNB4	HK1	YARS1
HP_INCREASED_SERUM_IRON	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_SERUM_IRON	PKLR	RACGAP1	HFE	STEAP3	KIF23	BCS1L	HJV	BMP2	HAMP	TFR2	SKIC3
HP_ANTINEUTROPHIL_ANTIBODY_POSITIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTINEUTROPHIL_ANTIBODY_POSITIVITY	ELANE	CASP10	FAS	GFI1	RASGRP1	DNASE1L3	STAT4	IRAK1	FASLG	STING1	PRKCD	ITCH	CLPB	BACH2	TCIRG1	DEF6	TLR8	CTNNB1	SRP54	FCGR3B	SPP1	ARPC1B
HP_ELEVATED_CIRCULATING_LONG_CHAIN_FATTY_ACID_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CIRCULATING_LONG_CHAIN_FATTY_ACID_CONCENTRATION	PEX19	PEX5	CPT2	ABCD1	PEX1
HP_EMG_ABNORMALITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMG_ABNORMALITY	CHCHD10	TFG	TNNC1	FKRP	MYOT	SPG7	VCP	ACAD9	MTMR14	ABCC9	POMT1	LRP12	MFN2	SAR1B	LRP4	DES	GBF1	FKTN	FHL2	SPG11	COQ8A	PLOD1	SGCG	OAT	SYNE1	UBA1	ACTN2	RRM2B	CASR	SH3TC2	DISP1	FHL1	SMCHD1	NALCN	COL6A1	SEPTIN9	TPP1	PMP22	UNC80	ANKRD1	MT-TN	POLG	HSPG2	YARS2	MT-TK	CHRND	PRPS1	TBCE	JAG2	BIN1	MYH7	MUSK	KBTBD13	GFPT1	COL6A2	CPT1C	ATP13A2	SCN5A	GIPC1	TMPO	CHAT	ERGIC1	LMNA	POMT2	LDB3	CYP27A1	HNRNPA2B1	MYPN	CHRNE	ABHD5	KLHL41	SCN4A	TTN	MT-TQ	ANO5	CEP126	COL6A3	MT-TL1	LARGE1	ACTA1	FRG1	DYNC1H1	BAG3	VWA1	GATAD1	RYR1	TPM1	GNA11	MYH14	IGHMBP2	SMN1	ATL3	MYL1	DHX16	SLC25A4	GBE1	OPA1	SQSTM1	ARSA	TNNT1	MPV17	CAV3	TNNI3	PRDM16	KLHL9	MAFB	FGFR1	ZIC2	BAG5	ADCY6	HSPB1	CHRNA1	CRYAB	PSAP	TNNT2	SLC25A1	KCNJ18	GYG1	KCNE3	OPTN	DSP	RAPSN	SMN2	TCAP	SIX3	HSPB3	COLQ	SPEG	GMPPB	SDHA	HSPB8	SPTLC1	ALS2	SVIL	CNTNAP1	TK2	CACNA1D	MT-TH	CHRNB1	NEB	TIA1	DPAGT1	FOXH1	TPM3	PPCS	COL25A1	PUS1	LAMA4	AGRN	COL13A1	CSRP3	CLCN1	MT-TP	DNM2	PSEN1	RBM20	ELP1	CASQ1	SYT2	KCNA1	POMGNT1	PLA2G6	MT-TF	ACTC1	GNE	TGIF1	CAP2	TMEM43	SPTLC2	MEGF10	SUFU	CPLANE1	PLEC	EMD	TRIM32	SETX	SYNE2	TAF1A	SGCA	ATP7A	TWNK	ANO10	NEFH	GDAP1	FBXO38	NODAL	SLC5A7	AK9	COL12A1	VPS13A	DYSF	CRPPA	ALG14	NOTCH2NLC	VAMP1	NR4A2	MYH6	TRIP4	LAMA2	NOP56	NEFL	PLN	DNMT3B	MYBPC1	DMD	MT-RNR1	SMAD4	B3GALNT2	PDK3	TNPO3	SHH	MYBPC3	DOK7	PTCH1	VAPB	MSTO1	DMXL2	MT-ND5	DLL1	MYO9A	FGF8	ASAH1	TXNRD2	FXR1	MT-TS2	CACNA1S	SLC12A6	DUX4	TANGO2	SCO2	ALG2	SLC18A3	RILPL1	SGCD	IBA57	DSG2	TPM2	VRK1	DOLK	ATXN3	GLI2	ALDOA	PNPT1	MT-TL2	ORAI1	STIM1	NEXN	HNRNPA1	MT-ATP8	PLEKHG5	SNAP25	DCAF8	TAFAZZIN	PSEN2	LAMB2	TDGF1	LGI4	VCL	MYF6	HINT1	SCYL2	LAMP2	ANXA11	MATR3	CDON	HAND2	POLG2	GAS1	RAF1	UNC45B	GJB1	TBCK	ATL1	GABRA3
HP_EMG_MYOPATHIC_ABNORMALITIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMG_MYOPATHIC_ABNORMALITIES	KLHL41	CHCHD10	MYH14	FKRP	POLG	MYOT	VCP	DHX16	GNE	SLC25A4	TGIF1	ACAD9	MTMR14	TANGO2	MYH7	TMEM43	POMT1	COL12A1	LRP12	SQSTM1	SAR1B	LRP4	TNNT1	MEGF10	SLC18A3	FKTN	SUFU	TRIM32	RILPL1	CAV3	RYR1	PLEC	KLHL9	EMD	TPM2	COL13A1	TTN	PLOD1	SYNE2	SGCG	FGFR1	SGCA	ZIC2	AGRN	CHRNB1	TWNK	RRM2B	GLI2	CRYAB	ALDOA	SLC25A1	DISP1	FHL1	ORAI1	BAG3	CHAT	NEB	STIM1	GYG1	SCN4A	NALCN	SIX3	COL6A1	NODAL	HNRNPA1	COL6A3	UNC80	SLC5A7	SNAP25	ACTA1	AK9	SYNE1	ANO5	DNM2	BIN1	CHRND	JAG2	MUSK	SVIL	KBTBD13	TK2	DYSF	CRPPA	COL6A2	VAMP1	TIA1	TRIP4	CHRNA1	TDGF1	MYF6	GIPC1	CHRNE	FOXH1	TPM3	NEFL	LMNA	LAMP2	RAPSN	MYBPC1	DES	LDB3	CDON	HNRNPA2B1	ABHD5	TNPO3	SHH	POLG2	DOK7	GAS1	MYPN	CASQ1	PTCH1	SYT2	LARGE1	MSTO1	UNC45B	DLL1	MYO9A	VWA1	FGF8	FXR1
HP_POLYCLONAL_ELEVATION_OF_IGM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYCLONAL_ELEVATION_OF_IGM	MYD88	SEMA4D	GPR35	KLHDC8B	MST1	TCF4
HP_DECREASED_CIRCULATING_TOTAL_IGA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_TOTAL_IGA	SYK	ATP6AP1	IVNS1ABP	CD3E	CD247	KNSTRN	CD3D	PIK3CD
HP_ATLANTOAXIAL_INSTABILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATLANTOAXIAL_INSTABILITY	DYM	DDR2	COL2A1	FKBP14	GATA1	ARSL
HP_ABNORMAL_VERTEBRAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VERTEBRAL_MORPHOLOGY	FGF8	EXTL3	FKRP	CHRNG	DLL1	ARSB	IARS2	SEMA3E	COL2A1	VPS37D	LRP4	HSPG2	MATN3	TMCO1	BMP1	GLE1	CUL7	HAAO	ARSL	HES7	IFT43	DEAF1	FUZ	ZBTB20	FGFR2	GPC4	LBR	IDS	KYNU	ACAN	FLNA	COL11A1	MEOX1	IPO8	IDH1	LEMD3	NUP107	RNU4ATAC	DYNC2I1	WASHC5	CANT1	FRAS1	CHRM3	SETD2	SALL4	GNPTAB	PRKAR1A	FZD2	WDR35	LRP5	TCIRG1	COL11A2	TRPV4	NSD2	SLC26A2	DHCR7	SFRP4	GLB1	NAGLU	MNX1	SEC24D	GLI3	RSPRY1	LONP1	CBY1	TBXAS1	IL1RN	DCC	VANGL1	FBN1	ZIC3	TAPT1	MMP2	SPIDR	MESP2	MBTPS2	ANKRD11	XYLT2	GJA1	CREB3L1	CCDC8	GPX4	COL10A1	TMEM237	OBSL1	CLCN7	FGFR3	FANCC	CSPP1	RINT1	HNRNPR	TAF1	DYM	LAMA5	SLC29A3	FREM2	TBXT	DSE	COL1A2	KRAS	ALG12	POLR3A	SPARC	DYNC2H1	MLXIPL	H3-3B	ASXL2	DDRGK1	NADSYN1	PCYT1A	WNT3A	PLCB3	RPS6KA3	CHN1	FANCB	CFAP410	LOXL3	HSPA9	GDF6	USP8	HGD	NALCN	TMEM67	HYLS1	TMEM218	PTCH1	SH3PXD2B	DKK1	PTH1R	FKBP6	AGA	FLII	KIAA0586	FLNB	NMNAT1	KIF7	HNRNPK	APC2	NEU1	MKS1	COG1	CEP41	SMARCAL1	CHD7	SLC39A13	PRKG2	SOX5	MMP14	MAP3K7	ACP5	RAI1	PDE4D	SGSH	SUFU	CDH23	SCARB2	ATP6V1B2	CLIP2	AEBP1	MPL	FIG4	COLEC11	USP48	FOXF1	KANSL1	MAFB	P4HB	MID1	ROR2	ENPP1	DHODH	SRP54	GAS1	MAN2B1	IDUA	FGFR1	SOX9	TBX5	LETM1	CPLX1	IKBKG	EBP	DLL3	CSGALNACT1	KDM6A	ADA	CDC45	MMP13	ABCC9	FUCA1	KMT2D	ATP7A	FKBP10	UBE3B	SBDS	DMP1	NOTCH3	CDK10	MADD	NSD1	PROP1	TNNT3	P3H1	CDH11	CTSA	CEP120	B3GALT6	GBA1	GPC3	LTBP1	CHST3	FANCI	PYCR1	SGMS2	WNT3	CCL2	TBX15	FSHR	KIF22	B3GLCT	STIL	TGIF1	TCTN1	POR	COL9A2	BAZ1B	RMRP	AFF4	ELN	UFSP2	SF3B4	PHF6	COMP	CCDC22	AKT1	CCND1	WNT4	NRAS	OTX2	NOTCH2	TPM2	ATRX	FLI1	SON	IHH	EIF4H	CCN6	XYLT1	GDF3	TCTN2	HRAS	LRRK1	TMEM53	COG4	EFL1	NXN	PAM16	LFNG	OCRL	IFITM5	GUSB	RUNX2	TRIP11	UROS	PUF60	MYH3	GLI2	SLC35D1	POGZ	VANGL2	FOXA2	ZIC2	COL1A1	WNT1	AIP	ANTXR1	ACVR1	RIPPLY2	DACT1	VPS35L	EIF5A	CBS	KATNIP	ITCH	ABCC6	CLCN3	THPO	HDAC6	FN1	EXOC6B	PSMC3IP	NANS	POP1	PAX3	MEG3	CSF1R	MRPS22	SOX3	CTBP1	AHI1	METTL27	DVL3	MBD5	PIBF1	ARMC9	TP53	INPPL1	WNT5A	FGFRL1	PLEKHM1	TONSL	SIX3	GTF2IRD1	TENT5A	PAPSS2	GNS	COL9A1	TNFRSF11A	NTN1	IFT80	SUMF1	CHD4	GZF1	PMM2	CDON	JAG1	WNT7A	HIBCH	CHRND	PLOD1	PAICS	ALPL	MRPS28	BCL7B	SEC23A	BGN	FOXH1	NCF1	PEX7	AIFM1	INPP5E	TWIST1	PTCH2	IQSEC2	KDELR2	TDGF1	LHX4	SMAD4	RFC2	KDM1A	PPIB	RAD51	RECQL4	TBL2	CPLANE1	COL9A3	ARL13B	BMP15	POLR3H	NEPRO	GTF2I	DYNC2I2	TRAPPC2	BMPER	PIGG	TMEM251	ALDH1A2	CRTAP	NKX3-2	NELFA	HGSNAT	ARSK	HHAT	STX1A	SKI	SHH	LTBP3	VDR	DNAJC30	TBC1D24	SLC10A7	DVL1	TBX2	SH2B1	NOG	TBX6	GNPAT	BNC1	CAPN15	STAG2	RPS19	NR5A1	TOGARAM1	MYO18B	B9D2	NEK9	CCDC134	RBM8A	DLK1	SERPINF1	SOX2	RAB33B	BRAF	PTEN	ORC1	FGD1	GDF11	KCNJ8	EIF2AK3	NR3C1	RPL13	DNAJC21	SF3B2	ASH1L	BUD23	NEK1	RAD21	SOST	CEP104	SLC25A24	PIEZO2	TNNI2	SMOC1	MIA3	ZSWIM7	PLOD2	ARL3	GRIP1	SIX6	LIFR	CYP27A1	GORAB	MESD	PLOD3	GTF2IRD2	PHEX	LIMK1	NODAL	DHX37	HTRA1	RTL1	SERPINH1	NPR2	DISP1	NF1	PPP1R15B	TMEM270	DDR2	HESX1	CHRNA1	ESCO2	GDF5	GALNS	NSDHL	OTUD5	NOTCH2NLC	B3GAT3	CHST14	DNAL4	POU1F1	APC	SALL1	HOXD13	IDH2	SMS	B9D1	WBP11	SC5D	RSPO2
HP_PARALYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARALYSIS	IGHMBP2	SDHB	MATR3	CACNA1S	NEK1	MYCN	ADGRG1	HAAO	RARS1	SLC52A3	GAA	FAH	HMBS	TMEM43	SRPX2	VHL	NEFH	NOTCH2NLC	TPI1	SLC12A3	MFN2	SLC2A1	VAPB	ZNF699	MEGF10	PFN1	MORC2	ATP1A2	KCNJ5	TMEM127	ANG	TBK1	UNC13A	PMP22	ATXN2	ZFYVE26	FUS	MDH2	FIG4	DNMT3A	EMD	ALDH18A1	TGM6	PPARGC1A	KRAS	SETBP1	SYNE2	PRPH	SDHAF2	RET	CNTNAP1	TCIRG1	ELN	ATXN3	DCTN1	TRPM7	TARDBP	ALS2	CLCNKB	VCP	SH3TC2	FHL1	FH	FGFR1	BAG3	SDHC	PRX	KCNJ18	GIPC1	SLC25A11	CPOX	EPAS1	KCNE3	ALOX12B	UBQLN2	SCN4A	PI4KA	TREM2	CLCN7	DKK1	KIF1B	ACTB	GM2A	MAX	ALAD	SQSTM1	NOTCH3	GLE1	COL4A1	PPOX	SYNE1	PON1	KCNJ2	POLG	MTRFR	PDCD10	SBF2	HFE	POLA1	SEC31A	OPTN	HSPB8	HK1	REEP1	CCNF	ERBB4	CAMK2B	LMNB1	DST	SLC25A19	GDAP1	PON2	CFAP410	TRAPPC12	SOD1	CHCHD10	LONP1	HTRA1	BCHE	TRPV4	CYP27A1	TRIM2	NFU1	CD59	DAO	SDHD	NF1	PRRT2	CA2	SLC5A7	ANXA11	NONO	B4GALNT1	GLT8D1	MLXIPL	LMNA	TNFSF11	PON3	JAG1	C9orf72	CACNA1A	HSPB1	TAF15	CDH23	HNRNPA1	SDHA	ABCB6	EPHA4	ALOXE3	GBA1	DLST	CHMP2B	GABRA3	SCN1A
HP_HYPOCALCEMIC_TETANY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOCALCEMIC_TETANY	GNAS	STX16	CTNS	FAM111A	TBCE
HP_SOMATIC_SENSORY_DYSFUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SOMATIC_SENSORY_DYSFUNCTION	IGHMBP2	PMS1	CHCHD10	NLRP3	ZFTA	TFG	IARS2	HSPD1	PI4KA	SETX	HSPB1	CDKL5	DEAF1	MFN2	DAB1	SAMD9L	SAR1B	PDYN	GAN	HAX1	GBF1	PMP22	DNAJC3	SPG11	GPI	NEFL	TLR4	PNPT1	RTN2	ALDH18A1	PLOD1	NIPA1	MORC2	FMR1	THPO	ATL1	SYNE1	ATXN8OS	DDHD1	MAGEL2	SLC25A15	ATN1	SPTLC1	PLEKHG5	MSH2	CASR	SH3TC2	GNAS	SORD	SLC25A46	ATP13A2	BSCL2	ZEB2	MEN1	ATP7B	NALCN	DHH	SEPTIN9	REEP1	TPP1	KCNJ1	COMP	UNC80	KRT1	NDRG1	SERPINI1	KCNC3	H19	TWNK	SYT2	DSE	FLRT1	KPNA3	GRIN2A	TGM1	SCN11A	KIF1A	CPT1C	HLA-DQB1	WASHC5	KRT16	PRPS1	FGD4	GLA	GALC	XK	SCYL1	GMPPA	KNSTRN	PGM3	MTHFR	FLII	SLC12A1	GDAP1	MPL	AIFM1	HNRNPK	NF2	RETREG1	NAGA	TTPA	KDM5C	NPRL2	JPH1	PRX	TRIO	ABCA1	VCP	PIK3R5	HK1	NTRK1	EBF3	CYP7B1	PHYH	MME	RAI1	MPZ	TDP1	ABHD12	SMC1A	MTTP	LMNB1	IMPDH2	GNA14	LRSAM1	DYNC1H1	GJB1	FBLN5	VWA1	KARS1	NDN	IL12A-AS1	MECP2	GNA11	COA7	GBA2	SOX10	SYNGAP1	ATL3	GBE1	SNORD115-1	OPA3	NGF	NGLY1	PRNP	SLC12A3	MAPT	SCN9A	UROD	VAMP1	PWRN1	MPV17	EXT2	ATP1A2	HLA-B	AARS1	HDAC4	TYMP	CHAMP1	KLHL9	TGM6	PWAR1	ABCD1	SERPING1	RRM2B	MYORG	CLCNKB	FLI1	MADD	CALR	CACNA1G	MYH14	HEXB	SACS	LIG3	KRT9	FXN	POLG	KRT14	MTRFR	MSH6	PSAP	PTPN22	SPAST	GJC2	ALAD	ATXN10	NR4A2	INF2	MTMR2	HSPB8	ATXN1	PPOX	PLEKHG4	MT-TE	ALDH4A1	CCT5	REEP2	OCA2	PDK3	DARS2	CCND1	IGF2	SNRPN	HMBS	HLA-DRB1	UBAP1	APTX	PIEZO2	ERLIN2	NTNG1	MARS1	SLC25A19	SHANK3	ARSI	ERBB3	BMPR1A	KIF5A	NAGLU	ADA2	SEMA4A	HARS1	DHTKD1	KLRC4	CBLIF	NPRL3	EXT1	CAPN1	RFC1	LYST	SPART	SH2B3	AMPD2	B4GALNT1	HINT1	ATXN3	ELP1	STUB1	MCM3AP	PDCD1	GPR101	COX6A1	P4HA2	DNAJB2	GARS1	SIM1	FLVCR1	PLD3	XRCC1	PNKP	SLC33A1	MED25	MATR3	HPDL	IL10	MKRN3	FGF14	SPTLC2	COL1A1	PRKCG	RNF170	MT-ATP6	EGR2	SLCO2A1	SLC12A6	PMP2	MSTO1	UCHL1	SLC26A2	MAG	STAT4	STX16	ATP7A	NEFH	HPGD	AIP	SLC2A1	BAG3	FAN1	PRDM12	POLR3B	APP	RAB7A	DKK1	NARS1	FBN1	UROS	GABRG2	SLC19A2	KRAS	GRIA3	JAK2	VPS13A	VPS37A	ERAP1	ZFHX2	CTDP1	SBF2	NOTCH2NLC	GABBR2	CUBN	MLH1	UBTF	SBF1	DNM2	IQSEC2	IBA57	TBP	IFNGR1	PIK3CD	DEPDC5	ATXN2	TRPV4	YY1	PIK3CA	PRRT2	LITAF	RASA1	TRAPPC2	HERC2	CACNA1A	SPG7	PRORP	LIFR	VPS41	NPAP1	ALMS1	SCO2	TRIM32	AASS	ZFYVE26	CAV1	POLR3A	VPS13D	LMNA	SNORD116-1	TP53	ATP1A1	AEBP1	KLC2	C4A	PEX6	GNB4	IL12A	TET2	IL23R	ELOVL5	YARS1	PEX7	KCND3	IRF2BPL	MEFV	DNM1L	GATA1	GCH1	IFRD1	PEX10	SRPX2	EPCAM	RPS20	ATXN7	SCN10A	DCAF8	FIG4	WNK1	TGFBR2	FAR1	PMS2	CHST14	CYP27A1	CCR1	C19orf12	CADM3	CSF1R	SPTBN2	WDR48	HTRA1	CHP1	RELA	PEX16	MLH3	SCN4A	BEAN1	FUZ	KCNQ1OT1	TMEM218	TNFRSF1A	SDHA	TK2	UBAC2	JAG1	CLTCL1	KIF1B	LMX1B	KRT5	HRAS	FAS	SCN1A
HP_SEGMENTAL_PERIPHERAL_DEMYELINATION_REMYELINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEGMENTAL_PERIPHERAL_DEMYELINATION_REMYELINATION	MT-ATP6	PMP22	MPZ	PRX	LITAF	MT-ND2	MT-ND4	PRPS1	DNM2	GBF1	NDRG1	MT-TW	MT-ND1	SBF2	MT-TV	MT-TK	EGR2	MT-TL1	NEFL	MT-ND5	MT-ND6	MT-ND3
HP_EMG_AXONAL_ABNORMALITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMG_AXONAL_ABNORMALITY	TFG	SPG11	PDK3	GNE	LMNA	MTMR14	NR4A2	SETX	ATP13A2	ANXA11	SGCG	DNM2	CYP27A1	ANO5	OPTN
HP_UPPER_LIMB_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_LIMB_MUSCLE_WEAKNESS	CHCHD10	TFG	SMARCE1	MTMR14	MYH7	TMEM43	NOTCH2NLC	MFN2	GARS1	LRP4	MPZ	MORC2	PIK3CA	CHRNA1	TERT	ZFYVE26	SMARCB1	RYR1	NEFL	LDB3	DYSF	EGR2	EMD	MT-CO3	PLOD1	SLC12A6	SYNE2	SGCG	AGRN	CHRNB1	SPG7	NEFH	YARS1	BAP1	LMNA	FHL1	GIPC1	GYG1	SMO	FBXO38	LPIN1	SCN4A	BSCL2	ADAR	SMPX	MTRFR	REEP1	GMPPB	NUP62	POU3F4	AK9	PPOX	SYNE1	PDGFB	HEXB	DNM2	CHRND	VHL	JAG2	MUSK	SBF2	GALC	ADSS1	HMBS	ACTA1	KY	PIEZO2	LIPE	MYF6	TRAF7	SUFU	CHRNE	CADM3	FGD4	SBF1	SCYL2	ERGIC1	SH3TC2	CPOX	AKT1	COL25A1	ANXA11	RAPSN	TRPV4	GDAP1	COL13A1	TCAP	NF2	CCND1	POMT1	DNMT3B	MT-ATP6	FUZ	VCP	SPART	CYP7B1	ANO5	DOK7	JAG1	BIN1	VWA1	LAMA2	MT-CO1	CRPPA
HP_BABINSKI_SIGN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BABINSKI_SIGN	TSEN2	PNPLA6	SLC33A1	FXN	PLP1	SPART	SPG7	EEF2	ARSA	HSPD1	RFC1	AFG3L2	PI4KA	SETX	FUS	HPDL	FA2H	PRSS12	GJC2	SACS	HTT	UGDH	KIF1A	MFN2	SAMD9L	SLC2A1	KIF5A	SNCA	PDYN	SLC44A1	GAN	C19orf12	DNAJC3	RNF170	SPG11	FARS2	CYP2U1	DPM3	OPA1	ATP13A2	PNPT1	RTN2	MT-ATP6	TIMM8A	ALDH18A1	NIPA1	MORC2	PGAP1	UCHL1	ATL1	SYNE1	DDHD1	MAG	PSAP	AP4B1	COQ2	NEFH	NDUFS4	STUB1	SLC25A46	LETM1	KLC2	POLR3B	MECP2	CWF19L1	SHMT2	ADAR	TPP1	DKK1	MTPAP	NUP62	FBXO7	FTL	TREM2	CNP	SNX14	GRIA3	VCP	SOD1	SPAST	GBA2	GFM2	GLRX5	PCYT2	ELOVL1	MPZ	KPNA3	GFAP	CHMP2B	KY	CPT1C	LMNB1	NDUFA4	ZFYVE27	NT5C2	RUSC2	MECR	WASHC5	AIFM1	IBA57	NOP56	TSEN54	SLC39A14	ATP6AP2	PRPS1	ATXN2	ATXN3	TH	C9orf72	DDC	CYP27A1	PYCR2	SLC1A4	CHCHD10	ZFYVE26	KDM5C	DEGS1	TTC19	DDHD2	CYP7B1	BRAT1	ABHD12	RNASEH1	EIF2S3	PET117	PLAA	MTTP	IMPDH2	CTDP1	BICD2	GJB1	BSCL2	DARS1	DNMT1	TAF2	DLAT	AARS1	TANGO2	ATP7A	SLC16A2	IREB2	MCOLN1	VAMP1	KIF1C	SPG21	PLA2G6	DTYMK	ASPA	TOR1A	REEP1	TSEN15	COX20	TMEM63C	AP4E1	CAV1	POLR3A	TGM6	SDHB	PIK3R5	ABCD1	TRMT5	TARDBP	ZFR	SQSTM1	ABCB7	AP4M1	GRID2	MTRFR	ALS2	TBC1D20	VPS13D	CACNA1G	PSEN1	HTRA1	ERLIN1	IRF2BPL	PIGA	EIF2AK2	AP4S1	POLG	B4GALNT1	NUBPL	ATXN10	ERLIN2	APOE	GCH1	TSEN34	PANK2	ATXN7	NR4A2	PIGT	OPA3	SELENOI	ATXN1	GPT2	COL4A1	ATG5	MT-TE	CCT5	DSTYK	TMEM63A	NDE1	DARS2	PARS2	GALC	CLDN11	JAM2	FAR1	NDUFS1	UBAP1	MAN2B1	TBK1	SDHAF1	REEP2	CTSF	SLC19A3	SDHA	HYCC1	CACNA1A	SIGMAR1	PRNP	MDH2	FGF13	SLC2A3	NFASC	ERCC6	NEFL	ANXA11	CHP1	PEX16	ARX	HADHB	CAPN1	TWNK	PRICKLE1	ADGRG1	SDHD	WWOX	TSPOAP1	ABHD16A	AAAS	AMPD2	HADHA	CNTNAP1	TFG	TYROBP	ADPRS	ACOX1	KCNA4	LARGE1	PMP22	SLC1A2	LYRM7	ETHE1	SEPSECS	KCNA1
HP_ANTINUCLEAR_ANTIBODY_POSITIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTINUCLEAR_ANTIBODY_POSITIVITY	FCGR2B	LACC1	POU2AF1	CASP10	FAS	RASGRP1	ACP5	STAT4	IRAK1	TLR7	SOCS1	STING1	PRKCD	MMEL1	TREX1	ANKRD55	PTPN2	TNFAIP3	FCGR2A	DNASE1	PTPN22	POMP	IL12RB1	SPP1	ARPC1B	CARD10	FASLG	RIPK1	MS4A1	CD247	IL2RB	SPIB	CTLA4	DNASE1L3	TNPO3	MMP2	COPA	NLRP1	IL12A	IL2RA	IRF5	PLCG2	TNFSF15	SLC7A7
HP_INCREASED_CIRCULATING_IGM_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_IGM_LEVEL	PIK3CD	PIK3R1	CD247	SPPL2A	MYD88	POU2AF1	SEMA4D	GPR35	CASP10	CD40LG	IKBKG	FAS	SPIB	AICDA	RASGRP1	MST1	FASLG	TNPO3	MMEL1	IL12A	IFNGR1	KLHDC8B	TCF4	CD40	UNG	VPS33A	PGM3	DNMT3B	IRF5	OTULIN	TPP2	TNFSF15	XIAP	SH2D1A	IL12RB1	NSMCE3
HP_DISPROPORTIONATE_SHORT_STATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISPROPORTIONATE_SHORT_STATURE	BMPR1B	EXTL3	ARSB	CTSK	IFT122	GDF5	MATN3	WNT7A	ACP5	HS2ST1	KIAA0753	TRIP11	LBR	KYNU	HDAC6	ACAN	COL11A1	DYNC2I1	CANT1	XRCC4	PRKAR1A	IFT140	SLC26A2	XYLT1	WDR35	TRPV4	DHCR7	INPPL1	SIK3	TONSL	SLC39A8	MESP2	CREB3L1	GPX4	COL10A1	CEP57	COL11A2	EBP	IFT80	RMRP	FGFR3	POC1A	XYLT2	COMP	DYM	IHH	COL1A2	ALPL	ALG12	MAB21L2	DYNC2H1	DDRGK1	DVL1	PCYT1A	BGN	CFAP410	PEX7	MYSM1	FGFR1	BRF1	KDELR2	PTH1R	KIAA0586	ARCN1	FLNB	WDR19	KMT2A	PPIB	SLC35D1	PCNT	COL2A1	CHST3	CSPP1	COG1	FGFR2	SMARCAL1	PRKG2	GPC6	DYNC2I2	TRAPPC2	BMPER	SHOX	CRTAP	NKX3-2	EVC2	CEP120	ARSK	EVC	ROR2	SOX9	SLC10A7	HSPG2	FZD2	GNPAT	MIR140	MMP13	GSC	GLB1	CLPB	AGPS	CSGALNACT1	COL1A1	IFT52	RAB33B	PUF60	WNT5A	P3H1	FN1	TBX15	GLI1	KIF22	B3GLCT	ASXL1	MBTPS2	PKDCC	MESD	CCN6	IFT43	PHEX	NPR2	NXN	DLL3	DDR2	NSMCE2	MTOR	GALNS	B3GAT3	RNU4ATAC	DYNC2LI1	DHCR24	ALG9	TBX6	RSPRY1	PRKACA	PRKACB
HP_MILD_SHORT_STATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MILD_SHORT_STATURE	COMP	COL9A3	SMARCA2	FGD1	COL1A1	RTTN	EVC2	COL9A2	PDE4D	MATN3	IDS	CANT1	DOCK3	CAMK2G	CHST11	EVC	LBR	COL10A1	PRKAR1A
HP_PROPORTIONATE_SHORT_STATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROPORTIONATE_SHORT_STATURE	SLC26A2	COL1A1	PNPLA6	DVL1	HSPG2	ARSL	PTH1R	TBX6	CENPT	B3GALT6	NPR2	ANTXR2	POLE	ACAN	RTTN	COL2A1	GHR	FGD1	ADAMTS2	RNU4ATAC	ORC1	NDUFB11	EVC2	CANT1	EPRS1	TRPV4	SDHB	GMNN	HOXD13	DNMT3A	CAMK2G	DVL3	FZD2	EVC	XYLT1	CDT1	FBN1	ALDH18A1	ORC6	COL9A3	CSGALNACT1	SMARCA2	TCTN3	COX7B	WNT5A	ADAMTSL2	COL1A2	NSMCE2	SLC39A13	HCCS	SALL4	TRIP11	MBTPS2	RPL13	PYCR1	SGMS2	SCNN1B	PIK3R1	HADH	FGFR1	PDE4D	MATN3	SELENOI	FGFR3	TRMT10A	ORC4	PIEZO2	ZBTB18	NIN	ADAMTS10	GH1	COL10A1	CDC6	MIA3	FLNB	IDS	OBSL1	TKT	GORAB	DOCK3	SCNN1G	PEX7	HSPA9	SDHAF1	TBCE	SCNN1A	RMRP	SON	STAT5B	PPP1R15B	PRKAR1A	BRF1	SIL1	SDHA	CKAP2L	GLB1	CTNNB1	CDC45	BRAF	ERCC6	ATP11A	DDRGK1	DLX5	CRIPT	HHAT	KIF11	MESP2	LBR	RUNX2	DLL3	FAM111A	KAT6B	SMAD4	COMP	PTCD3	SDHD	INPPL1	NEPRO	ESCO2	DYM	LARP7	MAP3K7	INPP5K	ATR	CHST11	CTSA	TMEM251	SHOX	ERCC4	PCYT1A	PTDSS1	GHRHR	COL9A2	DHCR24	AMER1	LTBP3
HP_SEVERE_SHORT_STATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_SHORT_STATURE	SLC26A2	PNPLA6	DVL1	HSPG2	PTH1R	TBX6	CENPT	B3GALT6	ANTXR2	POLE	RTTN	COL2A1	GHR	ADAMTS2	RNU4ATAC	ORC1	NDUFB11	CANT1	EPRS1	TRPV4	SDHB	GMNN	DNMT3A	DVL3	FZD2	XYLT1	CDT1	FBN1	ALDH18A1	ORC6	CSGALNACT1	SMARCA2	TCTN3	COX7B	WNT5A	ADAMTSL2	COL1A2	NSMCE2	HCCS	SALL4	TRIP11	MBTPS2	RPL13	PYCR1	SGMS2	PIK3R1	FGFR1	FGFR3	ORC4	PIEZO2	NIN	GH1	CDC6	FLNB	IDS	OBSL1	GORAB	PEX7	HSPA9	SDHAF1	RMRP	STAT5B	BRF1	SIL1	SDHA	COL1A1	CKAP2L	GLB1	CDC45	ERCC6	ATP11A	DDRGK1	DLX5	CRIPT	HHAT	KIF11	MESP2	DLL3	FAM111A	KAT6B	SMAD4	COMP	PTCD3	SDHD	INPPL1	NEPRO	ESCO2	DYM	LARP7	MAP3K7	INPP5K	CTSA	TMEM251	SHOX	ERCC4	PCYT1A	PTDSS1	GHRHR	DHCR24	AMER1	LTBP3
HP_BIRTH_LENGTH_GREATER_THAN_97TH_PERCENTILE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIRTH_LENGTH_GREATER_THAN_97TH_PERCENTILE	SUZ12	PIGA	GPC4	GPC3	MTM1
HP_DISPROPORTIONATE_SHORT_TRUNK_SHORT_STATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISPROPORTIONATE_SHORT_TRUNK_SHORT_STATURE	TRPV4	COL2A1	ARSB	DYM	BGN	ACP5	RAB33B	SMARCAL1	PUF60	CFAP410	GALNS	TRAPPC2	BMPER	FN1	MESP2	TRIP11	FLNB	BRF1	CCN6	XYLT2	KIF22	TBX6	NKX3-2	GLB1	ARSK	RSPRY1	DLL3	CHST3
HP_HYPERPROSTAGLANDINURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPROSTAGLANDINURIA	SLC12A1	KCNJ1	SLCO2A1	BSND	CLCNKB	CLCNKA
HP_ELEVATED_CALCITONIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CALCITONIN	RET	NF1	SDHB	MEN1	FH	SDHC	SLC25A11	VHL	PRKAR1A	TMEM127	KIF1B	SDHD	MAX	MDH2	GNAS	PDE4D	SDHA	CDKN2C	CDKN2B	CDKN1B	DLST	CDKN1A	SDHAF2
HP_ELEVATED_CIRCULATING_GLUTARIC_ACID_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CIRCULATING_GLUTARIC_ACID_CONCENTRATION	SUGCT	ETFA	DNAJC19	GCDH	ETFDH	ETFB
HP_3_METHYLGLUTACONIC_ACIDURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_3_METHYLGLUTACONIC_ACIDURIA	ATP5F1E	TMEM70	AGK	MICOS13	NGLY1	LETM1	TIMM50	HTRA2	SDHA	TAFAZZIN	SERAC1	OPA3	CLPB	ATP5F1D	AUH	ATAD3A	DNAJC19	ATPAF2	POLG	SUCLG1
HP_HYPOURICEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOURICEMIA	PNP	SLC22A12	CTNS	GATM	SLC34A1	NDUFAF6	MOCS1	SLC2A2	SLC2A9	GPHN	MOCS2	MOCOS	EHHADH	HNF4A	ATP7B	PRPS1
HP_URINARY_GLYCOSAMINOGLYCAN_EXCRETION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URINARY_GLYCOSAMINOGLYCAN_EXCRETION	IDUA	NAGLU	ARSB	COL2A1	GUSB	IDS	SUMF1	NGLY1	GALNS	GNS	SGSH	PIK3C2A	VPS33A	GLB1	GNPTAB	HGSNAT	ARSK	RMRP	FUCA1
HP_INCREASED_SERUM_PYRUVATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_SERUM_PYRUVATE	MT-TF	NDUFB10	NDUFS4	NDUFAF2	NDUFS3	PC	MT-TK	NDUFS7	PDHA1	NDUFS2	NDUFAF8	NDUFAF5	NDUFV1	COX6A2	KARS1	SCO2	NDUFA11	ACAT2	NDUFA6	MT-ND1	NDUFA1	MT-ND3	PNPLA8	TIMMDC1	AIFM1	PDHX	PITRM1	COX10	DLD	FOXRED1	MECP2	TMEM126B	NDUFS6	NDUFAF3	BCS1L	MT-TL1	NDUFV2	NDUFS8	UQCRC2	POLG	LDHA	MT-TP	NDUFB9	COX16	NDUFB11	LIPT2	MPC1	NDUFAF4	SLC25A26	NUBPL	NDUFAF1	TWNK	MT-TI	NDUFS1	MT-ND2	NDUFB3	LONP1	SDHB
HP_EXERCISE_INTOLERANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXERCISE_INTOLERANCE	KLHL41	COL9A3	MT-ND4	TBX20	POLG	MT-ND5	PUS1	GATA6	SLC25A4	SLC2A9	GCDH	GAA	COL13A1	CITED2	C1QBP	COL9A2	ISCU	PHKA2	ATP5F1D	MT-CO1	COQ8A	TPM2	CPT2	TRMT5	KCNE1	KBTBD13	PGAM2	DNA2	TWNK	RRM2B	FARSB	CHCHD10	SLC18A3	NDUFS4	MT-TH	AGK	MT-TL1	SLC25A32	ENO3	FLAD1	PFKM	NEB	TAFAZZIN	NPPA	SLC22A12	GMPPB	COMP	BCS1L	DMD	TK2	GYS1	MT-TE	ALDH4A1	SVIL	SCN5A	TOP3A	KCNQ1	MIEF2	TLL1	PGK1	SURF1	COL12A1	MYH6	PNPLA2	HINT1	MT-CO2	POLR2A	MLIP	TPM3	MT-TN	RSPH9	ACTA1	CCDC78	MT-TK	LAMP2	NKX2-5	BVES	PHKA1	MGME1	ACTC1	MT-TF	POLG2	HADHB	MT-ND6	PHKG2	PYGM	MRPS2	SDHA	YARS2	COA3	FARSA	RNASEH1	LDHA	HADHA	PGM1	PHKB	MYPN	PYGL	MT-TS2	RSPH4A	MT-CO3	TMEM126B	COL9A1	BICD2	MT-TW	ACAD9	MT-TQ	GATA4	CAVIN1	MT-CYB	MT-ND1
HP_SHOULDER_GIRDLE_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHOULDER_GIRDLE_MUSCLE_WEAKNESS	MAP3K20	FKRP	SLC25A4	MATR3	DYSF	CFL2	MYH7	TPM3	CHRNA1	MYOT	LRP4	CHRNE	RYR1	GDAP1	FRG1	GALC	TRIM32	TTN	BICD2	CHRND	SMN1	MYL2	RAPSN	TPM2	ITGA7	ABHD5	COL13A1	AGRN	CHRNB1	RRM2B	DNAJB6	TNPO3	HNRNPDL	ACTA1	POLG2	DOK7	GYG1	SCN4A	PNPLA2	SMN2	PSAP	HACD1	TWNK	LRIF1	GNE	VCP	SELENON	AK9	POLG	ANO5	MT-TE	MUSK
HP_SUBSARCOLEMMAL_ACCUMULATIONS_OF_ABNORMALLY_SHAPED_MITOCHONDRIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBSARCOLEMMAL_ACCUMULATIONS_OF_ABNORMALLY_SHAPED_MITOCHONDRIA	ISCU	TWNK	TYMP	POLG	PNPT1	SLC25A4
HP_PREDOMINANTLY_LOWER_LIMB_LYMPHEDEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREDOMINANTLY_LOWER_LIMB_LYMPHEDEMA	SOX18	DNMT1	GJC2	CELSR1	FLT4	FOXC2	EPHB4
HP_DIFFICULTY_CLIMBING_STAIRS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFICULTY_CLIMBING_STAIRS	SGCA	MYPN	ACTA1	MIEF2	DYSF	FKRP	ADSS1	SLC25A4	POMT1	GFPT1	GAA	ALG2	MYOT	MFN2	TOR1AIP1	RYR1	PLEC	TPM2	TTN	ANO5	SGCG	KBTBD13	LIPE	POMK	TCAP	HADHB	TWNK	RRM2B	POLG	DMD	POMT2	VMA21	VCP	DNAJB6	RNASEH1	WDR62	POLG2	HADHA	ALG14	FLNC	DAG1	POMGNT1	SPEG	GMPPB	PLEKHG5	LRIF1	PYROXD1	CAPN3	MT-TE	TPM3	LAMA2	DPAGT1	SGCD	BIN1	TFG	MYH7
HP_MUSCLE_STIFFNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_STIFFNESS	STIM1	SCN4A	KBTBD13	KLHL41	RYR1	ATP2A1	MYOT	KIF1A	GLRB	CAV3	PI4KA	DNAJC6	CACNA1S	REEP2	VAMP1	RNASEH2A	MAPT	KIF5A	HINT1	SLC2A1	SLC16A1	PANK2	SIL1	GALC	MLIP	MYO5A	TPM3	RNASEH2C	ZFYVE26	ACTA1	PRKAR1B	GLRA1	RNU4ATAC	ATP13A2	RNU7-1	IFIH1	LDB3	MT-ATP6	TPM2	SLC6A5	KRAS	CLCN1	ACADVL	PHKA1	KIF11	ABCD1	SAMHD1	ADAR	HSPG2	KAT6A	ANO10	CRYAB	PYGM	FGFR1	AOPEP	KCNJ18	NEB	ANO5	PODXL	LDHA	INPP5K	KCNA1	MYPN	TNFRSF1A	CPT2	TK2	ARX	PSAP	GPHN	TREX1	POLG	SYNJ1	LSM11	SPG7	DHCR24	SPAST	CAVIN1	RNASEH2B	DARS2	GABRA3	ATAD1
HP_TYPE_2_MUSCLE_FIBER_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPE_2_MUSCLE_FIBER_ATROPHY	STIM1	CHRNA1	CHAT	GFPT1	COLQ	PNPT1	CHRNE	SARS2	ORAI1	MT-CO3	LAMB2	CNBP	ALG14	LPIN1	MT-CO1	SPTBN4	CASQ1
HP_MUSCLE_FIBER_SPLITTING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_FIBER_SPLITTING	TTN	NEFH	ACTA1	TRPV4	DYSF	ALDOA	CHRNB1	DNAJB6	PLEC	MYH7	NEB	ADSS1	SGCG	LDB3	ANO5	FLNC	CRYAB	TNXB	CAPN3
HP_VIRAL_INFECTION_INDUCED_RHABDOMYOLYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VIRAL_INFECTION_INDUCED_RHABDOMYOLYSIS	TSEN34	TSEN2	TSEN54	TSEN15	ALDOA	DGUOK	LPIN1	SEPSECS	MT-CO1	MT-CO3
HP_MUSCULAR_DYSTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCULAR_DYSTROPHY	COL6A3	PNKP	ITGB4	LAMA2	FKRP	BUB3	POMT1	TMEM43	CEP57	LMNA	CRYAB	POMGNT1	RYR1	TRIP4	FKTN	TRIM32	CAV3	B3GALNT2	DPM3	B4GAT1	POMGNT2	PLEC	EMD	CRPPA	ANO5	SYNE2	POMT2	SGCA	LIPE	LARGE1	POMK	SELENON	ITGA7	SYNE1	SGCB	FHL1	BAG3	GK	LIMS2	SGCG	DMD	SMCHD1	TTN	BUB1B	NPPA	DAG1	TRAPPC11	DYSF	HNRNPA1	GMPPB	CAPN3	DPM1	COL12A1	PIEZO2	COL6A2	SGCD	JAG2	SCN5A	ACTA1	RXYLT1	MYH7	TRIP13	TOR1AIP1	SIL1	FRG1	BVES	NR0B1	AHCY	TCAP	CHKB	DNAJB6	TNPO3	HNRNPDL	COL4A1	INPP5K	COL6A1	BUB1	CAVIN1
HP_BIRTH_LENGTH_LESS_THAN_3RD_PERCENTILE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIRTH_LENGTH_LESS_THAN_3RD_PERCENTILE	DYRK1A	SMPD4	PIK3R1	B3GLCT	FIG4	PLAG1	CDT1	ORC4	SMAD4	ORC1	CDC6	HMGA2	TBCE	EIF2S3	ORC6
HP_DECREASED_LDL_CHOLESTEROL_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_LDL_CHOLESTEROL_CONCENTRATION	MTTP	MSMO1	APOC3	ANGPTL3	PANK2	APOB	FDFT1	ALG6	B4GALT1	GPIHBP1	NGLY1	APOA5	SAR1B
HP_LOW_PLASMA_CITRULLINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_PLASMA_CITRULLINE	MT-ATP6	MT-TW	MT-ND1	MT-TV	MT-ND2	MT-ND4	MT-TK	CPS1	MT-TL1	MRM2	OTC	MT-ND5	MT-ND6	PCK1	MT-ND3
HP_INCREASED_TOTAL_BILIRUBIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_TOTAL_BILIRUBIN	PIEZO1	PRF1	SLC4A1	LIPT1	TMEM67	SEC63	LRP5	PRKCSH	KCNN4	PFKM	DCDC2	CPT2	POLG2	MYO5B
HP_CONGENITAL_ONSET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_ONSET	AMPD2	FKRP	DPP6	LRP4	HS2ST1	MTMR14	ZBTB20	TGM1	PHOX2A	KYNU	LTBP4	EP300	B3GALNT2	CYP2U1	EIF3F	LSS	POMP	NUS1	IFIH1	MEGF8	GSX2	SLC26A2	RNF113A	TSR2	SLC25A4	MFSD2A	MITF	STS	ALOXE3	ATP8A2	FOXC1	AVPR2	ZIC3	DBH	TTC8	XYLT2	DHH	DYRK1A	STAMBP	HNRNPR	RPGRIP1L	HOXB1	GUF1	TWIST2	CREBBP	NRCAM	CFC1	STAG1	GEMIN5	KCNE1	REEP1	DVL1	COA5	CFAP410	PIGN	PSMD12	GLE1	RUSC2	DPH1	CLDN10	AARS1	CA8	NEK8	TFAP2B	SUMO1	UGT1A1	GREB1L	MECP2	VPS33B	RYR1	NCAPG2	ACKR3	KATNB1	GDAP1	RUNX2	DPH5	HSPG2	CD8A	IGBP1	TAB2	SPATA5	BAP1	BRPF1	ATN1	CHD7	ACP5	ATP2A2	WT1	PRDM13	COL11A2	CLP1	MPC1	KRT5	ZNF335	RPS10	SPI1	TMEM107	SLC6A6	CLCNKB	CERS3	COPB2	SATB2	PPP1CB	FTO	EXOSC3	FGFR1	IGHMBP2	NR1H4	LAMA2	TUBB	MYCN	IKBKG	ARL2	SNORD115-1	SELENBP1	ABCC9	SLC26A4	SCN9A	ZBTB24	GP9	TSEN54	TMEM231	TSEN15	NBN	IGF1R	UBR7	HDAC4	MEIS2	CHAMP1	ITGB4	GSC	KMT2D	CRB2	INPP5K	SALL1	CRELD1	PLEC	UBE3B	TSEN2	ITGA7	IBA57	WNT5A	RSPO2	CDH11	TTC5	CABP2	ALDH1A3	RAPSN	SNAI2	KIF15	CCDC32	GATA4	TBCE	CLCNKA	PREPL	COL4A1	CTU2	RFWD3	ASXL1	BIN1	DCC	PRKACA	FOXI1	CCDC28B	PKHD1	BMPR1B	F2	ALX4	KNL1	YIF1B	CCDC88C	MYH2	SPECC1L	POLR3A	VANGL1	H4C11	IGF1	FKTN	PEX3	ROBO3	COL7A1	TRAPPC14	LZTFL1	HBG2	RHOA	KLF1	DCPS	FOXE3	PSAP	COQ4	PRR12	IFT74	KCNQ1	KIF5A	CLRN1	LAMB3	MAGEL2	ZFPM2	HRAS	MED23	HNRNPH1	MCM3AP	ASCC1	MED25	EDNRB	NKX2-5	FLT4	HK1	NKX2-1	GJB2	ACAD9	ACVR1	NRAS	VPS35L	TWIST1	ERCC6	KAT5	WDR4	KCNK4	GPRASP2	ATOH7	QRICH1	HBA1	ATP2B3	CCDC103	MSRB3	MKRN3	EDNRA	CDC14A	MEGF10	ERCC4	CDH3	RAB18	MAP3K7	CSF1R	IFT52	ARL6	ATAD1	IGF2	OTOF	SSR4	ATPAF2	PAX6	PITX3	CDK5RAP2	DYNLT2B	AP4B1	AMH	INPPL1	GLI3	KCNJ10	CDK5	KATNIP	RSPH3	ZNF141	COL1A2	PEX5	WDR62	PAX8	MKKS	H4C3	OPN1MW	SHMT2	IRF6	FBLN5	NARS1	LSM11	BCL11B	TP63	CLMP	TFAM	FANCL	GLI1	KRAS	AP3B1	PRKAG2	CFAP53	BICD2	DLL4	TRIM32	CEP135	CHMP1A	FLNA	TELO2	GRHL3	SOX18	CEP63	ERCC2	ECHS1	MAPKAPK5	KLHL24	SLC25A19	GLS	FAM20C	POLR3B	TCOF1	SLC6A9	COX6A2	SMC1A	EOGT	EN1	FAM111A	ARCN1	GFM1	FGA	TMCO1	CC2D2A	CHKB	TMPRSS3	TTN	CWF19L1	MC2R	DONSON	CCDC88A	YRDC	MARS2	LMBR1	HERC2	POMK	ACTG2	TPM2	TTC7A	PHGDH	THOC6	HPGD	KRT14	TUBB4B	HEPACAM	DPYD	TARS2	CIT	KIF1A	WDR19	ROR2	RAB3GAP2	WAS	TBX2	PTRH2	ATP1A3	MYSM1	POMGNT1	VSX2	PDCD6IP	DTYMK	RAB3GAP1	CAPN15	TUBB1	AP4E1	G6PD	RIPOR2	KITLG	C18orf32	EIF4A3	SALL4	OFD1	ANO1	VRK1	MRPS22	MTO1	ELP2	PLD1	POMT2	RAD51C	AP3B2	CEP152	HOXD13	KRT74	DNMT3A	FOCAD	ITPR1	ORC1	COG1	NIPAL4	ATR	CYP19A1	SPATA5L1	DCHS1	WHRN	LRP5	DCT	PITX1	SMO	ITGA8	PYROXD1	GMPPB	CST6	SLC25A24	CDC6	MET	GATA3	SIX3	OGDHL	STIL	MKS1	AGPAT2	MICOS13	SIX6	CHST14	LIFR	LAMC2	LRTOMT	PUF60	FZD6	SOX10	UQCC3	ALG8	TTC26	TBC1D24	HYCC1	MAF	HPDL	FGFR3	SLC39A8	SMARCD2	PPP2R3C	DLX5	PIK3CA	SYT2	TBCK	ALG9	DNASE2	WDR35	NECTIN4	DPAGT1	COL3A1	LPAR6	LIPH	LMOD2	DSTYK	JAM3	DNAAF3	ORC4	BBS4	LMNA	RNU4ATAC	ORC6	CIROP	CHRNE	JAG1	FGF3	ELP1	BBS1	TKT	UNC45B	PORCN	EDN3	TUBGCP6	SELENON	RPA1	GTF2H5	UBA2	EXTL3	PCLO	COX5A	NDUFA2	IARS2	IFT122	ABCD4	VLDLR	MATN3	C2orf69	PC	HAAO	ACTA1	COL11A1	NOTCH1	IPO8	GATA5	TRMT10C	IFT140	LRRC56	COL17A1	ELOVL4	PDHX	COL18A1	COQ7	DPM2	PEX26	MNX1	MARVELD2	ATP2B1	ENPP1	KANK1	ATP6V0A2	CHRNB1	CDT1	CCND2	ALOX12B	GP1BB	CREB3L1	KAT6A	PLK4	ALG3	MYH9	TAF1	ODAD3	EXOC7	TYMS	LAMA5	PHOX2B	ABCA3	TBXT	CHUK	GFRA1	ASPM	CDCA7	SLC35A3	SCN11A	ASXL2	ERGIC1	TXNDC15	NCAPH	TUBGCP4	DSP	RALA	CHAT	NECTIN1	ZFYVE19	GMPPA	NUP88	RMND1	NF1	PIGF	NALCN	SRD5A3	C2CD3	GATA6	TSHR	GJA1	TMEM106B	BBS9	PEX12	FANCF	EGR2	MDFIC	AP1B1	PIGO	MPZ	ANKS6	WDR81	COASY	VAX1	SLC37A4	FIG4	ZC4H2	PCDH15	NUAK2	FOXRED1	ZNF148	H1-4	SDHB	HCCS	ABCA12	STRC	SOX9	PRKAR1B	RNF13	SERPINE1	NPHS1	MYL1	SREBF1	MYO9A	TRAPPC12	COL13A1	NUDT2	CRYGB	GLRB	FGG	CNOT1	PWRN1	SPTBN4	TRIP4	COA6	CDC45	ITGA6	LAMA3	PWAR1	MARK3	PDX1	DSE	ARHGEF2	CLPB	ODAD4	SPRED2	POLE	CHRNA1	DOHH	TASP1	EXOC2	TBC1D20	ESRRB	ERCC3	CDK10	CSPP1	SCARF2	CENPF	AP4S1	LTBP1	CHST3	PIGY	COL4A6	TCTN3	BHLHA9	TOE1	ATP5F1A	FLNB	PIGT	CDK13	POLR1A	MID1	PRKACB	TUBB3	SCN8A	OTOGL	NDE1	ERCC1	SVIL	KIFBP	POLA1	NOG	TYR	PSAT1	TMEM67	FUT8	TPM3	XRCC2	GDF3	GGPS1	SLC16A2	SCN5A	HRURF	COX7B	LARS2	NAA10	AP1S1	TPM1	ST14	COL2A1	DNAH9	COG6	LAMB2	LBR	TLK2	NDUFA6	F13B	FYCO1	BRF1	MYH7	CACNA1D	RRP7A	SLC5A7	UROS	CNTNAP1	ATP6V1B2	SMAD2	LARGE1	POGZ	VARS1	KDSR	SMARCAL1	PPP3CA	EIF5A	TP53RK	LMNB2	NUP155	BLM	ELP4	RPL10	F13A1	ITGA3	CFL2	MAP3K20	PAFAH1B1	VIM	MPDZ	HIVEP2	MYBPC1	DDX59	DNM2	RNU12	DTNA	NECAP1	KDM6A	ECE1	SMG9	CLCN7	SLC12A2	HOXA2	TRPV4	AGTPBP1	COL25A1	SIK3	TBX3	CFAP45	BSND	AFF4	YY1	GDF5	TCTN2	PMM2	ATP2B2	PEX19	AARS2	MBTPS2	MMP1	FGF16	EXOC6B	KRT1	EBP	RMRP	TMEM94	PDE6D	BCS1L	PKD1L1	PRPS1	MYL11	FBN2	EPS8	ACTA2	ECEL1	KY	YAP1	LFNG	RBPJ	EEF1A2	MAB21L2	CRYAB	RARS2	DMXL2	SLC2A10	MAPRE2	ADAMTS19	BCL11A	TMEM70	RBBP8	NOTCH3	ACVR2B	NDUFB11	NDUFA4	DCDC2	NDUFAF4	DHCR7	DSG4	ALPK3	TBCD	PNPLA1	GP1BA	MYO6	GRIN1	CATSPER2	TXNL4A	EED	MRPS16	PKLR	LRP2	NPHP3	ATP11C	GATA1	MYO7A	ARHGEF9	PKP1	PPFIBP1	CYP4F22	POMT1	FGFR2	RPS26	ANOS1	BLTP1	POLR1D	ARMC9	TRIM36	HELLS	DOLK	SLC25A12	FGB	PLAA	CENPJ	PRKD1	SIAH1	NKX3-2	ATCAY	PGAP2	MOGS	NPHP1	TMC1	EPG5	TXN2	SEC23A	EXOSC9	PAX2	ELN	NPAP1	CTCF	CTSD	CDC42BPB	CIB2	JUP	IER3IP1	RIPK4	PTCH1	MYO15A	BSCL2	PCDHGC4	KARS1	CAV1	IFT172	SNORD116-1	NUP37	NEK9	PRUNE1	TMEM98	RBM8A	SOX2	CDAN1	PYCR1	TMEM216	GDF11	CCDC39	NCAPD2	ZBTB7A	ECM1	PLCD1	CDC40	SF3B2	ASH1L	ACTB	GDNF	BRWD3	RRM2B	SF3B4	IRX5	ARX	SULT2B1	CPLANE1	CASK	CAMK2B	HCN4	GORAB	GJA8	AMHR2	TCF12	KIF7	KRT71	LMOD3	PDE4D	CRIPT	SCNM1	FAT4	IARS1	AP4M1	ALDH3A2	NEDD4L	WNT10A	WLS	ADGRG1	TRMT10A	SIN3A	NSDHL	HERC1	BRAF	OTUD5	PIEZO2	ZMPSTE24	PSMC3	TBX6	WDPCP	CRYBA1	RPS28	CALM3	VSX1	PXDN	NODAL	AHDC1
HP_ADULT_ONSET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADULT_ONSET	GABRA3	LMNA	LMX1B	SHOC1	BAG3	LRP12	NEFH	DAZ1	IL6	UBA1	GBF1	CHRNA1	SYCP3	SCNN1G	MSH4	PPARG	TSC2	FMR1	DNAH17	PSEN1	SMAD2	TNNI3	TBK1	H6PD	SFRP4	OSMR	PLG	SDHB	FOXC1	CNBP	BRCA1	LZTR1	ATP7B	IMPG2	FOXE3	IMPG1	KCNJ2	TIMP3	GYG1	NLRP3	ENPP1	RCBTB1	CFHR1	NTHL1	JAG2	MAGT1	NRCAM	TOP3A	PRDM16	SLC26A8	PMP22	HFE	ZNF408	IGF2BP2	RYR2	TNC	LAMA4	BMPR2	CHMP2B	MYH7	JPH2	HLA-DQB1	TOR1AIP1	GIPC1	HGD	COL4A1	GGN	MAPT	AMACR	NEXN	MAFB	MAK	BLK	ATP6AP2	ACTG1	DCTN1	SUFU	MSH5	BVES	SOD1	PHKA1	CASR	MCCC1	C9orf72	BCL10	JAK2	ITPR1	DNMT1	MEI1	DPY19L2	DNMT3B	PIK3R5	ANXA11	VSX1	FSIP2	ABHD12	RPGR	MICAL1	SCN4A	FAT2	SMARCB1	LIG3	GNAI2	EPAS1	PTEN	COL6A3	SMN1	PPP2R3C	SELENBP1	TLR7	NOS3	BEAN1	PRPF8	TOR1A	TGM6	CCDC62	PIGA	ANO5	EIF2AK4	SMARCE1	RAF1	ATP1A3	SLC25A4	NR4A2	RPS4Y2	DRD5	HTRA1	ENO3	AOPEP	CEP78	PRKCH	TREX1	CDH1	OPTN	POLG	C14orf39	TMEM240	C9	HSPB3	APOE	MPEG1	CYP11B1	ATXN10	HSPB8	TLR8	ATXN1	ANKH	CARD9	INF2	PRNP	VCL	MAPKAPK3	PRY2	PDK3	SFTPA1	PKHD1	ZNF687	CASQ2	MLH1	CATIP	LMF1	PRKAG2	BTNL2	ZP1	ACTC1	SMPD1	CATSPER2	CTSF	SLC19A3	FLNC	MARCHF6	SPG11	CLN6	WFS1	AUH	RPL10L	DDX3Y	TWNK	NLRP7	THSD4	PDGFRB	DNAJC5	LRP5	RFC1	SDHC	C2CD6	ZP3	CCDC34	BAP1	GPD2	F2	HINT1	CPT2	CYLD	SCN3B	PDCD1	TTN	REEP1	C3	XRCC2	USP9Y	GPIHBP1	SLC2A2	XRCC1	GBE1	STARD7	CFAP43	CDH2	MBD4	HK1	STK11	MED25	GDAP2	MATR3	KCNJ5	POLRMT	CP	PRDX3	C19orf12	LDB3	HNF1A	GCNA	HAVCR2	SETX	KCNH2	COQ2	HSFY1	TSC1	CEBPE	KIF5A	ZMYND15	CPOX	IL36RN	BPY2	GLUD2	RBP3	UQCRC1	DYSF	SLC4A11	NEUROD1	VCP	SPTLC2	IRS1	RTEL1	GCGR	EPCAM	OTC	AIP	ASTL	FBXO43	FIG4	PLIN1	POT1	NF1	RNF170	SLC17A9	GFAP	MYH6	IDS	SCN1A	APP	GGCX	MAPK8IP1	PNPLA2	CORIN	PARK7	NAGA	CDH23	TBP	SAMD9L	ATXN2	TCF7L2	SNCA	PDGFB	NR0B1	TFG	TNNT2	CRYAB	TERB1	CC2D2A	LRRK2	LITAF	MCM6	ELOVL4	DNAJB6	TNPO3	BAG5	IFIH1	MOV10L1	KCNE1	MSH2	VAPB	DIAPH2	MPO	DNHD1	DYRK1B	CSRP3	ENG	LRP6	ATP1A2	BMP6	HLA-DRB1	GATAD1	TULP3	HNRNPA1	STOX1	BBS2	PIK3CA	PTPN1	IFT140	MYPN	ANLN	CACNB4	ZPBP	KCNK3	FSHB	GAA	C1QBP	TRPC3	SPG21	RILPL1	MPZ	SEC23B	G6PD	RIPOR2	TAF4B	SLC25A13	ATP1A1	PNKP	ABCA7	SGCD	SERPINA1	DNAH8	YARS1	TLCD3B	ABCC9	ANO3	MYL2	KCNE2	KDM5D	SOST	TAF1	LGI1	CHRNA2	MYBPC3	MYOT	PLN	HMCN1	KCNQ1	WDR19	SCN4B	KCNJ11	SASH3	PDE11A	PRPH	SH3BP2	TTR	CFHR3	ALG10B	CATSPER1	LHB	SAMD12	DSG2	SCN5A	CCND1	SDHA	TYROBP	NF2	RAPGEF2	KIF1B	LRIF1	PRY	TERT	FZD4	TMEM43	MGME1	UBQLN2	THAP1	RPA1	AKT1	STIM1	ALOX5AP	CFI	F5	FHL1	SLC20A2	KNG1	PRPH2	CFAP58	PARN	FKTN	TTLL5	IFT74	SNORD118	TERC	MORC2	SYCE1	PLEKHG5	PPP1R3A	REC114	ATP13A2	GALC	TGFBI	ALDH5A1	PMVK	KCNC3	XPR1	TINF2	CTNS	SLC30A8	RPS14	FBN1	COL2A1	PNLDC1	ABCB4	ARMC5	ACTA1	LMNB1	BLVRA	SOCS1	SPRY2	WASHC5	PLA2G6	XK	SH3TC2	ATP11A	MEFV	SLC12A5	LIPC	CYP27A1	TUBB4A	POLG2	PABPN1	CCNF	DNAJB11	SDHD	FN1	TERB2	HNRNPDL	ICOS	MME	RELN	TNNC1	NPHP1	CHCHD10	SLC37A4	MSH6	FBLN5	BSCL2	VAMP1	CDY2A	LAMA2	PRPF4	NOL3	UNC13D	ADH1C	IKZF1	MN1	GARS1	DDX41	LYST	PSAP	PKP2	CCDC88C	AARS1	DES	DIAPH3	ERBB4	RP1	ABCC1	MEIOB	ADGRG2	SERPING1	ATP6V0A1	MYORG	VPS13D	DMD	STUB1	HKDC1	SMN2	PAX2	SPAG17	VCY	ARHGEF10	ALDH18A1	HJV	TNRC6A	CFH	GANAB	SCN1B	SLC4A4	PRKN	CACNA1C	APTX	RBM20	STRC	MAP1B	MARS1	DGUOK	POF1B	DAZ3	TPM1	TBX18	AGBL1	KLKB1	DHTKD1	RRM2B	TTC21A	ABCC8	PAX4	MTOR	MUC1	PRKAR1A	SLC22A12	TIA1	ITM2B	SEMA3A	SEC63	ATXN3	SLC44A4	DAZ2	FTL	ABCG8	KCND3	GSN	ALG5	PLD3	APOA1	CLCN1	M1AP	GNE	AFG3L2	MOCOS	THBD	NFKB1	AAGAB	TNFRSF13C	CAPN3	HNF1B	RAX2	APC	DTNA	MT-TT	PMP2	SDHAF2	SLCO2A1	TCAP	GBA1	GRN	HPRT1	CLEC3B	JUP	KLHL7	RP2	PDX1	TBX3	PSEN2	SMCHD1	ELMOD3	PRKRA	GCK	ATP2B2	HMGA1	MARS2	CD164	KCTD17	SNCAIP	ZSWIM7	NPPA	SLC2A10	NEK1	INSR	MYL4	PPOX	VPS16	ACTN2	CDY1	TRPV4	SLC19A2	COCH	QRICH2	STAT1	SCN2B	IRS2	ABCA4	ATL1	PRKG1	PDHA2	NOTCH2NLC	SLC34A2	ATN1	AR	SERPINA6	HSPB1	MTNR1B	SPG7	PATL2	EEF2	ATXN8OS	B2M	SYCP2	MAFA	DNAJC3	TGFBR1	HAMP	SLC39A14	BPGM	GJA5	TRIM32	KRAS	GNAL	CACNA1I	CAV1	TNFAIP3	DSP	TRMT5	DNAJC30	LIG4	LIPE	DPM3	AURKC	KRT18	RETN	EIF2AK2	CLCN2	CCDC39	MFAP5	SMPX	SLC7A6OS	SERPINH1	TECRL	NOTCH3	SHANK3	SCN10A	STAG3	TBC1D24	KCNA5	MSH3	MEN1	CASK	STT3A	DLST	HCN4	DSC2	CADM3	SYNE1	TARDBP	ERCC6	NPC1	CPT1C	CSF1R	CACNA1A	PLAU	GNAS	SEPTIN12	AKT2	THSD1	ATP5MC3	FKBP6	TIE1	TP53	CFAP44	NUTM2B-AS1	SNTA1	AAAS	GCM2	CAV3	POLE	KCNJ18	PYGM	VHL	RAB39B	PRKCSH	CYP7B1	RBMY1A1	TTBK2	SMAD4	HNF4A	F8	FHOD3	VPS11	TRDN	PKD2
HP_LATE_ONSET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LATE_ONSET	ATXN8OS	BBS2	PTPN1	MAFA	LMX1B	MYPN	ANLN	CYLD	TBP	AAGAB	ADH1C	BAG3	BAP1	IL6	BEAN1	CAPN3	HNF1B	APOE	FBLN5	DSG2	SEC23B	HNF1A	HAVCR2	MT-TT	PPARG	FMR1	ERBB4	MYBPC3	GBA1	ABCA7	CLEC3B	NR4A2	KRT18	PDX1	RETN	PPP1R3A	PSEN2	OPTN	IMPG2	GLUD2	HTRA1	HMGA1	UQCRC1	MAPT	MYH6	NEUROD1	IRS1	SNCAIP	SLC30A8	EPCAM	ACTC1	RPS14	VCL	ENPP1	CFHR1	SFTPA1	GANAB	IGF2BP2	RYR2	LAMA4	NEK1	HMCN1	PDGFRB	BLVRA	MAPK8IP1	DSC2	MARS1	TARDBP	KCNJ11	FLNC	NEXN	TMEM43	TPM1	AKT2	CLN6	ATXN2	WFS1	LIPC	THSD1	TCF7L2	KLKB1	LDB3	CFHR3	JAK2	PABPN1	CCNF	CHCHD10	ABCC8	THSD4	PAX4	LRRK2	GCK	IRS2	ELOVL4	ANXA11	MME	GPD2	CAV1	ATN1	TNNC1	MTNR1B	TIA1	GYG1	HNF4A	SLC2A2	BMP6	KCNE2
HP_INSIDIOUS_ONSET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INSIDIOUS_ONSET	ATXN8OS	ATL1	GLUD2	MAPT	NR4A2	SNCA	OPA1	ATXN2	SPAST	EIF4G1	MPZ	NIPA1	MT-TT	TBP	ADH1C	SNCAIP	WASHC5	GBA1	PMP22
HP_INFANTILE_ONSET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFANTILE_ONSET	AMPD2	KITLG	IDH3A	ARSB	YARS1	NEMF	TRNT1	APC2	ADCY5	CHRND	PI4KA	MTMR14	PDHA1	GLS	USP53	FLT4	SLC2A1	LIPA	GABRG2	GNE	KCNQ5	CNNM4	EP300	FRMD7	CHRNA1	B3GALNT2	CYP2U1	SLC41A1	OPA1	TGFBI	EIF3F	NDP	ADAR	ALDH18A1	GNPTAB	RYR1	SLC51A	TSC2	CAMK2A	FCHO1	KLHL7	PGAP1	IFIH1	TCIRG1	SPATA5L1	EDEM3	CCDC115	ATP1A2	ERBB2	CYB561	TBK1	UVSSA	NKX6-2	PCDH12	STS	AGK	HCFC1	WDR26	FOXC1	FMN2	LETM1	KLC2	TAF8	GUCY2C	MECP2	TPO	ARV1	DYRK1A	SLC39A4	SHQ1	RINT1	NDUFAF8	SYNGAP1	VPS33A	ZNF407	NAGA	ZBTB18	COL6A2	SCN1A	JAG2	CREBBP	TRPV4	ABCB11	STAG1	GEMIN5	ASS1	SP7	LRP5	H3-3B	LMNB1	ANTXR2	MYH7	CFAP410	PSMD12	RUSC2	UPB1	HGD	AARS1	NDUFA13	MAFB	ANTXR1	RIN2	SPEG	MACF1	TCF20	CLTC	LINGO1	NDUFAF6	NLRP12	SI	SLC1A3	ZMYND10	CHD1	MCCC1	NMNAT1	TUBGCP2	GFI1B	LMAN2L	UFSP2	CHRNE	HSPG2	CHKA	PRX	SPATA5	COL12A1	TRIO	ZNF526	CHD8	TMTC3	NTRK1	DBR1	EBF3	TCTN2	GNB1	BCAS3	MPI	SLC30A9	PEX2	GRIN1	DCDC2	ASNS	SUPT16H	AEBP1	EXT2	RPS10	BICD2	USB1	EFL1	SLC6A6	P4HB	SLC26A3	CAVIN1	TOM1	SATB2	DUT	NR1H4	GPAA1	POMT1	SEPSECS	USH1C	SELENBP1	CAMTA1	NGF	NGLY1	GUCY2D	ABCC9	ATP7A	IREB2	DHX30	PTPRC	ADA	GABRB3	ADNP	ARFGEF1	TSEN15	HID1	TMEM63C	CHAMP1	AMTN	FUCA1	PNPT1	INPP5K	IL37	JAK3	MMP14	CD19	PCDH19	IL12B	SYT1	MARS1	MFN2	PLEKHG2	COX10	SLC33A1	FARSB	CFTR	BCL10	ITGA7	PTPRQ	RPS29	ZAP70	IL6ST	COLQ	TPK1	SRCAP	CRB2	CLPB	PRMT7	TNPO2	PURA	TRAC	TLR8	COL4A1	HEXB	MAPK8IP3	TNFRSF11A	IGHM	MRPL3	DCC	CNPY3	PKHD1	AMBN	BTK	TK2	MRPS25	NCKAP1L	DGUOK	ZMIZ1	NDST1	YIF1B	CRX	PGAP3	POLR3A	GLB1	GATA1	PCDH15	NKX2-1	GCH1	SPTBN2	SPTAN1	FGF13	TBL1XR1	JAGN1	SOX6	ADA2	C12orf57	ROBO3	COL7A1	AUH	MMADHC	FERMT3	YWHAG	ALS2	ZNF462	TCF3	SLC7A7	PITRM1	POLR3K	IFITM5	MRPS2	ALG11	PIGM	YIPF5	PRDX1	TGM3	MAGEL2	POMC	VHL	TWNK	WASHC4	HNRNPU	CXCR4	BCORL1	PNKD	C3	SLC1A2	PLCG2	FKTN	GJB2	LYRM7	ETHE1	KCNMA1	PHIP	CNOT3	NDUFA8	COL6A1	P4HTM	ASPA	TWIST1	WARS2	TRDN	CPSF3	MMACHC	ITPA	POLRMT	CARS2	MMP9	RPSA	IRF8	TGFB1	KCTD7	EPHB4	MYMK	KMT5B	ZMPSTE24	RAG1	PIK3CD	PROC	EGR2	PLG	SLC12A6	MTSS2	SOST	TBR1	AMMECR1	WAC	MBD5	GABBR2	ADAM22	TUBB6	DCLRE1C	TSC1	NDUFS4	ALG14	CD3E	WDR62	PRDM12	POLR3B	EDA	IL36RN	WDR81	OSTM1	ERCC5	PHKA2	CLMP	DAG1	PEX1	ADK	GCDH	FANCL	CLCN4	SLC16A1	DDX3X	TPP2	DLAT	ATP1A3	SCN3A	TP53	JAG1	PIDD1	FRRS1L	MTPAP	HCRT	STEAP3	OTC	HIBCH	BCL11B	GRIN2D	VPS37A	POLG	EXOSC5	SDHD	CHMP1A	STX11	SOX18	YME1L1	KRT81	LMBRD1	RAB27A	MTFMT	GFAP	GON7	IDS	NR4A2	DOCK3	RORC	KRT14	RDX	KDELR2	SH3TC2	COX6A2	RERE	ADD3	KIDINS220	DCX	TRAPPC6B	CPLX1	RAC1	FGA	NR0B1	SCN4A	UBE2A	ADGRV1	DLD	IL10RB	SLC46A1	ABCB4	OPHN1	TBX21	POLR1C	WDR73	TTN	CWF19L1	SNX14	BRAT1	ATP6AP2	ALG13	ERCC6	MUSK	YRDC	DEAF1	SEMA7A	GNAS	DNAAF5	SLC25A26	MRPS7	KIF1A	THOC6	CHD5	HEPACAM	DPYD	TARS2	SLC12A5	MYO5A	POC1B	CD3D	HMGCS2	TIMM50	TULP3	CRBN	NUP62	RORB	ILDR1	TRIP13	NAXE	SGPL1	BLNK	VPS53	PTCHD1	DTYMK	TIMMDC1	STAT2	PPP2CA	WAS	RPS19	NBEA	SEC23B	G6PD	MPZ	TRAPPC2L	CACNA1C	DZIP1L	PNPLA8	CAMK2G	ELP2	HSD17B10	ALDH6A1	SGCD	ADAT3	NSRP1	AP3B2	GRID2	NLRC4	NDUFA10	PUS3	FOCAD	IKBKB	ITPR1	IFNG	ALG2	AP1S2	ATR	SMN1	SPATA7	SETD5	TAFAZZIN	FRMD5	ELANE	TRMT1	KRT5	SETBP1	GAN	CTC1	CAD	SNAP29	PYROXD1	NTRK2	NEXMIF	ATG5	HPS5	PPCS	PLP1	KCNN2	MEF2C	OGDHL	MIA3	LIPT1	CHD3	CLDN11	TRIOBP	MICOS13	LMBRD2	STXBP1	GPR101	TBCE	IL17RC	ABCD3	CAV1	STAT3	TAF2	ALG8	TTC26	MT-TN	SARS1	DYNC1I2	CRB1	HPDL	DEF6	APOB	DHPS	MAST1	ACADVL	ZNFX1	PEX16	ARPC1B	RPE65	CD59	ATAD3A	GPD1	PHKG2	CD40LG	MFF	ANK1	GPHN	GALNS	IQSEC2	CD3G	SLC34A3	RNU4ATAC	EDC3	GAD1	PMP22	SPR	MYO7A	RNASET2	IGLL1	SUCLA2	ZSWIM6	LARGE1	FZD4	BAAT	TRMU	UNC45B	SDHA	FAR1	D2HGDH	ACADSB	ATP1A1	COX5A	PDZD8	WDR4	IARS2	NACC1	MATN3	C2orf69	NSD2	HTT	PC	NCAPD3	GPT2	CPT2	HAX1	DOCK8	RNASEH2A	PRF1	DOCK2	IFNAR1	VPS41	SNORD118	PIGK	NARS2	FBXL3	DRC1	IFT140	IL7R	SUCLG1	C4B	CTNS	PIK3R1	HNF1A	TMEM38B	ATP2B1	TBC1D7	LGI3	PSPH	TUBB4A	SKIC2	SMARCA4	TNNT2	MMP2	EIF2AK1	CACNA2D2	PERP	GALC	GRM1	PDP1	SLURP1	NCDN	COX4I2	ALDH5A1	CELF2	EPO	EXOC7	KDM5B	TYMS	PHOX2B	DPM1	PRDM13	CLCN7	FCGR2A	GFPT1	NDUFC2	PMPCA	PRRT2	MTX2	VAMP1	ACTA1	SLC6A8	PAK1	NSUN2	KCNB1	EARS2	VAMP2	AGO2	SLC25A38	GABRA1	ZFYVE19	VPS33B	MEFV	GMPPA	PSAP	DDOST	DST	SRD5A3	FNIP1	HDAC4	KCNA2	RETREG1	TMEM106B	JPH1	RPGRIP1L	LCK	CYBB	MED13L	SETD1A	COQ6	FRMPD4	POU1F1	TNFRSF11B	GAMT	ANKS6	RUBCN	AIFM1	SCN11A	SLC37A4	FCGR3A	PRKDC	CTDP1	DPF2	MLC1	TRPM6	RANBP2	PDE2A	IL6R	CYP2R1	SDHB	LCA5	RAG2	COL6A3	PRKAR1B	KDM4B	CIC	COG2	KCNJ10	GDAP1	UNC13D	SLC38A3	NOS1AP	ERF	CALM1	KMT2E	STXBP2	FANCB	NAA20	FGG	MCOLN1	LYST	CARMIL2	GNB2	COQ2	TBC1D24	HERC2	EPRS1	ERCC8	WDR45B	CFI	ZMYND11	SPRED2	MAP2K2	AFG3L2	ADGRG1	CYB5A	ATP6V0A1	EXOC2	IKBKG	VPS45	HCN4	PIGA	MRPL44	SACS	COLGALT1	DDB1	TSPYL1	LTBP1	SELENON	MYT1L	ATP6V0A4	PANK2	CLCN3	PTS	PIGT	SLC39A7	FLNA	ZNF142	SCN8A	PHEX	RSRC1	ACOX2	ERCC1	SVIL	FTSJ1	ATP6AP1	SLC18A2	TMEM67	RIPK1	GATAD2B	NEB	RASGRP2	DPAGT1	NLRP3	PLCB1	MCEE	KCNC2	SDHAF1	CORO1A	MLIP	HUWE1	MDH2	ATP8B1	NAPB	LRRK1	SET	G6PC1	S1PR2	MPV17	SIL1	ENPP1	NFU1	RLIM	TLK2	EXOSC8	MTOR	GGCX	SCN2A	TMX2	NDUFA6	GUSB	WWOX	FYCO1	BRF1	CHD2	BTD	AUTS2	PLPBP	FOXP1	SLC5A7	TRAPPC9	PPA2	PTEN	ACOX1	POGZ	TH	NDUFAF3	SASH1	PET100	MTHFD1	VARS1	NDUFA12	VDR	LIG1	ERCC2	PCK1	PPP3CA	DCLRE1B	PNP	SLC25A1	HIKESHI	IL2RG	CYC1	TP53RK	DNAH5	BLM	ITGA3	KRT83	GJC2	ACTL6B	CDKL5	HIVEP2	NDUFV1	MYO5B	TNIK	HCN1	MCCC2	TJP2	DIP2B	EHHADH	RPL3L	IMPDH1	MIPEP	DSC3	IL21	HPRT1	ROR1	TREX1	VARS2	MTRR	ACO2	AGTPBP1	ARFGEF2	PSMC1	ADSL	THUMPD1	GRIA3	ADCY3	ANGPT2	EEF1A2	MPDU1	PDE10A	OCLN	H4C9	GNS	PMM2	AARS2	PTH	MMP1	MMAA	RPL35A	RMRP	CARD11	LRIG2	CD164	SOD1	DNM2	NFE2L2	TIAM1	SAR1B	LRPPRC	ELOVL1	NDUFS2	GNB5	NFKBIA	SLC2A10	CA12	CCDC65	GRIA1	CEP104	GTPBP2	STING1	GMPPB	PSMB8	ALPK3	PINK1	SYK	NARS1	TBCD	SCO2	KDR	SARS2	KCNT2	GARS1	ATG7	HYDIN	NDUFB8	DDC	NSUN3	ARPC4	RBCK1	GABRB1	SLC1A4	MED12	NPHP3	GEMIN4	MYMX	NEUROD2	TBL1X	TRIM37	MTR	PUS7	RPS26	ANOS1	DOCK7	GLRA1	NOTCH2NLC	CACNA1S	DOLK	TMEM251	SLC25A12	FGB	QDPR	ISCA1	ZMYM2	CD79B	KCNQ2	PSMG2	GRIK2	MID2	GH1	PHKB	EPG5	TXN2	ABCC6	NDUFAF1	DARS1	CD247	KRT86	FOXP3	CERS1	EIF2AK2	KCNH1	HPD	AASS	BCS1L	CACNA1H	DYNC1H1	SMG9	OAS1	TRPA1	MVK	GLUD1	ELF4	SLC39A14	DNAAF4	CACNA1I	PCDHGC4	TTI2	H4C5	TNFAIP3	ANAPC7	HNMT	NEFL	L2HGDH	REST	POMK	SLC6A3	TBX19	TOGARAM1	MANBA	ALDOA	CLPX	SAMHD1	IRF2BPL	IL2RB	BOLA3	HCN2	METTL23	KIF12	CCDC39	NLRP1	RFT1	ATP13A3	EIF2AK3	ECM1	DDHD1	STT3A	ASH1L	GP6	ATP6V1B2	AKT1	POMT2	BRWD3	NDUFV2	AGXT	PDGFRB	SLC5A6	HNRNPH2	TNR	PIGG	TP63	MBOAT7	LINS1	CUX2	CASK	TUFM	WNK1	NDUFS1	MCM5	GATM	SON	CAMK2B	SURF1	CPLANE1	HADHA	NF1	CD320	GJB3	DPH2	CADM3	SLC25A15	GRIN2B	TAF13	OTULIN	DLG4	LEPR	SMPD1	MRPS34	COPB1	TECR	WLS	TRIT1	PIGP	CYP1B1	SLC35A1	SCN9A	AIMP2	SIN3A	ABHD16A	CARD14	TET2	COPB2	PIGS	TNFSF11	CUL3	PARN	OGDH	NDUFB9	SOBP	HADHB	NAXD	KAT6B	PRKG2	FBP2	CTNNB1	ACADS	NBAS	GBA1
HP_MIDDLE_AGE_ONSET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MIDDLE_AGE_ONSET	BBS2	CDH2	MBD4	MAFA	POLG	LMNA	LMX1B	PSEN2	MYPN	MATR3	KNG1	KCNK3	CYLD	MOCOS	POLRMT	BAG3	IKZF1	BAP1	LRP12	PRNP	TNNC1	FKTN	UBA1	CAPN3	GBF1	PSAP	GJA5	CHRNA1	TOR1A	AARS1	RAX2	FBLN5	REEP1	CACNA1I	DSG2	APC	MPZ	SEC23B	G6PD	RIPOR2	TTLL5	SNORD118	TGM6	HAVCR2	PSEN1	ERBB4	EIF2AK4	RAF1	CLEC3B	KCNJ2	TTN	TBK1	H6PD	KLHL7	MYORG	PLEKHG5	KIF5A	DRD5	HTRA1	ABCC9	CLCN2	CNBP	TNNT2	BRCA1	OPTN	HKDC1	TMEM240	TGFBI	SMPX	TNNI3	SCN5A	IMPG2	ATP2B2	UQCRC1	CRYAB	ATXN10	VCP	SPTLC2	MARS2	NOTCH3	LGI1	KCNC3	EPCAM	ACTC1	NPPA	KCNA5	VCL	MSH3	PDK3	APOE	SFTPA1	PKHD1	FBN1	GANAB	SCN1B	NF1	MLH1	CASK	ZNF408	STT3A	MYH6	LAMA4	NEK1	BMPR2	CHMP2B	VAPB	PRKN	PDGFRB	SOCS1	KCNQ1	SMPD1	MAP1B	DSC2	CADM3	MARS1	COL4A1	MAPT	FLNC	NEXN	CSF1R	TBP	SAMD9L	MAK	TPM1	ATP6AP2	VPS16	CLN6	TBX18	BVES	THSD1	PHKA1	ANXA11	SNCA	RRM2B	JAK2	PLN	CCNF	DNMT1	CHCHD10	THSD4	LITAF	SCN2B	HLA-DQB1	ELOVL4	NOTCH2NLC	MME	RELN	ITM2B	CAV1	SDHA	RPGR	MICAL1	SCN3B	KCNJ18	MSH2	PYGM	ATN1	KIF1B	RAB39B	LRIF1	DYRK1B	SLC37A4	TERT	FTL	CYP7B1	TIA1	KCND3	GYG1	BMP6	GATAD1	GBE1	RPA1	HNRNPA1	KCNE2	PKD2
HP_ANTIPHOSPHOLIPID_ANTIBODY_POSITIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTIPHOSPHOLIPID_ANTIBODY_POSITIVITY	TOM1	FCGR2B	CASP10	FAS	RASGRP1	CTLA4	ADA2	STAT4	IRAK1	FASLG	STING1	PRKCD	TREX1	STAT1	DEF6	FCGR2A	DNASE1	SPP1	PTPN22
HP_JUVENILE_ONSET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JUVENILE_ONSET	CIDEC	IDH3A	GABRA3	LMX1B	ADCY5	PI4KA	AXL	LRP12	LMNA	USP53	LIPA	FKTN	KISS1R	CHRNA1	SCNN1G	IFNAR1	CYP2U1	NLGN3	CNTN2	SNORD118	ALDH18A1	WFS1	MORC2	DSP	AGBL5	ATP1A2	PIK3R1	TBK1	H6PD	SFRP4	NAGLU	PLEKHG5	FOXC1	PSMC3IP	CD4	SGCG	EIF2B3	TNNT2	MMP2	EIF2B5	ALG6	ATP13A2	ATP7B	SLC2A1	TGFBI	TLR3	GNPTAB	ALDH5A1	PMVK	PANK2	WARS2	CACNB4	TYMS	TINF2	MFSD8	CTNS	HPCA	KCNJ2	BFSP1	SGCE	RCBTB1	JAG2	PDCD10	MAGT1	FBN1	NRCAM	TRPV4	PRDM16	PMP22	SMAD9	ASS1	RYR2	TNC	PGK1	MYH7	CFAP410	SOCS1	NEFL	MECR	TOR1AIP1	PLA2G6	DHDDS	GLA	MYOT	MAFB	ATP11A	MEFV	MACF1	ATP6AP2	SLC12A5	BVES	ZMYND10	CASR	WARS1	MCCC1	MCM9	TUBB4A	ITPR1	TTPA	EIF2B4	FN1	OTULIN	CAPN3	PIK3R5	DOK7	DBR1	ACP5	RELN	CLCN2	PDE6H	ABHD12	KCNT1	MSH5	FHL1	COQ6	MICAL1	SLC30A9	PET117	ANKS6	NPHP1	LIG3	NLRP3	SLC37A4	EXT2	PNPLA6	RPS10	DIAPH1	BICD2	ESR1	BSCL2	VAMP1	SLC26A3	LAMA2	PRPF4	TOM1	COL6A3	DUT	CASP10	CIC	SLC52A3	TLR7	UNC13D	HPS3	IKZF1	SLC12A3	NCF1	SLC6A1	MPV17	PRPF8	NDUFS3	ENPP1	ISCU	AARS1	FA2H	DSG2	COX20	SMN1	DIAPH3	EPRS1	CFI	EIF2AK4	RP1	SPRY4	RAF1	CHM	CD19	ATP1A3	TCF4	EIF2B2	ABCB7	ATP6V0A1	ERCC4	MPZ	NDUFAF6	GNRH1	HTRA1	MYH14	UMOD	AOPEP	DDB1	IL6ST	FXN	BMP15	SMN2	CRB2	CYP11B1	ITK	HSPB8	TLR8	KIRREL1	CARD9	BIN1	TPM2	PDK3	DAAM2	DNAJC6	SVIL	CASQ2	CALM2	ATL1	GIMAP5	GANAB	BTK	SCN9A	PRKAG2	RHBDF2	IMPG2	PRKN	CACNA1C	SCN5A	APTX	ACTC1	SMPD1	NPHS2	CLN3	MAP1B	WRN	SLC19A3	SLC25A19	POLR3A	FLNC	MLIP	ZSWIM7	AKAP9	SPG11	SIGMAR1	ATP8B1	TMEM53	TBX18	DHTKD1	DNAH9	WDR19	CBLIF	CARD10	MRE11	THRB	KLF1	TWNK	POLG	NLGN4X	CFH	APRT	PAX9	PRKAR1A	UBAP1	ARHGEF1	HINT1	VHL	MCM3AP	TPM3	REEP1	CALM1	C3	LYRM7	CCDC141	FLRT3	SLC5A6	EMD	ACO2	CLCN1	KCNA1	IRF3	DCLRE1B	CDH2	HYAL1	MBD4	HK1	AFG3L2	CAV3	MOCOS	HPDL	NFKB1	MYOZ2	CARS2	ATP2B3	ANO5	TUB	PRDX3	C19orf12	CLDN16	MCCC2	GAL	MYMK	HSCB	PIK3CD	CSF1R	PROC	GNRHR	MYPN	CHST6	HAVCR2	SETX	PMP2	EXT1	UCHL1	MYRF	HPRT1	SGCA	KMT2B	ATP7A	CEBPE	RP2	DNASE1L3	NDUFS8	OFD1	PAX8	PRKRA	GCK	IL36RN	RAB7A	TNNI3	ATP2B2	PHKA2	HSD11B1	CLCN7	GCDH	ASAH1	SPTLC2	FTL	MARS2	LRIG2	SLC16A1	CD46	KCTD17	PIDD1	OTC	RETREG1	ALPK1	GBA2	MIEF2	LMBRD1	SLC2A10	DYSF	SLC17A9	GFAP	INSR	SLC4A1	IDS	PDGFRB	SCN1A	LPIN1	SBF1	POLR3B	DNM2	SH3TC2	SLC19A1	TACO1	SAMD9L	VPS16	NCF2	HYDIN	EIF2B1	ACTN2	SLC19A2	GALNT3	NR0B1	SLCO2A1	MYH9	STAT1	LITAF	SLC5A7	MCM6	ABCA4	TNPO3	BAG5	CYBA	IFIH1	SLC34A2	EFHC1	COL2A1	POMGNT1	ATN1	PPARG	COL17A1	TMC1	DPYD	HGSNAT	KIF1A	SEMA3E	NUP160	TULP3	PIK3CG	MYL3	B2M	RORB	MAFA	IFT140	DNAJC3	ANLN	TGFBR1	KCNK3	CSTB	SLC39A14	FEZF1	SGPL1	CACNA1H	TNNC1	MPZL2	LMNB2	NDRG1	ELF4	GFPT1	KPTN	GNAL	SEC23B	G6PD	RIPOR2	TNFAIP3	ARL3	GLB1	EGR2	ATP1A1	REST	DZIP1L	DNAJC30	SGCD	DPM3	CYBB	CTNNA3	MTRFR	TLCD3B	SLC6A2	SRA1	IRF2BPL	SGCB	FOCAD	EIF2AK2	KIF12	CCDC39	DDHD1	NHLH2	SLC7A6OS	COL9A1	ANO3	TECRL	PEX10	NUP107	SBF2	GAN	SHANK3	LGI1	PYROXD1	CHRNA2	TNFRSF4	HPS5	PLP1	MYBPC3	OGDHL	CASK	STT3A	HCN4	KCNQ1	DSC2	PAPPA2	SPIDR	SLC25A15	STAT3	SCN4B	SLC39A5	NPC1	TYMP	PDE11A	KISS1	CACNA1A	MAF	PANK4	WDR11	DEF6	SH3BP2	FDXR	NEXN	DMD	KCNN2	CTNNB1	ZNFX1	CHP1	ADA2	TGFB3	NUP133	DUSP6	PHKG2	TIE1	ANK1	MVK	TPP1	GNAS	ZNF513	GALNS	AAAS	LDHA	CAV1	SLC13A3	TGFB1	RYR1	NHP2	PYGM	TERT	FGF17	MGME1	BAAT	CYP7B1	FSHR	PRKG2	CPA6	THAP1	RPA1	TRDN	PKD2
HP_NEONATAL_ONSET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_ONSET	SLC25A1	IL2RG	EXTL3	LBX1	CBS	NDUFA9	DNAH5	HACD1	ABCD4	C2orf69	TRNT1	F13A1	ITGA3	NDUFS6	KCNJ5	GLYCTK	GJB2	ZBTB20	LSS	USP53	SFTPB	MYL2	CYP11B2	OTX2	DOCK2	TJP2	EIF3F	PROC	ADAR	RPL3L	NEUROG3	LCT	CPS1	RYR1	POMP	DRC1	AKR1D1	HYOU1	ARG1	ITGB2	IFIH1	NPC2	SUCLG1	VARS2	TRPV4	ATP1A2	TMEM38B	STS	ENPP1	DCN	IL1RN	PSAT1	TRAPPC4	AVPR2	SKIC2	NDUFS8	PAX8	EEF1A2	MPDU1	OCLN	MINPP1	CACNA2D2	G6PC3	SHMT2	COX16	IL36RN	OSTM1	ERCC5	PMM2	LIPT2	NUP133	KCNJ1	ARHGDIA	SUOX	COX4I2	PEX1	ADK	GCDH	CELF2	ARL13B	WARS2	KDM5B	SCN3A	TP53	KCNJ11	SLC10A1	PHOX2B	OTC	CLCN7	GUF1	OXCT1	STAG1	ASS1	LMBRD1	SLC2A10	HSD3B7	HSD17B4	PPP1R21	GPHN	CYP11B1	CFAP410	STING1	KCNB1	VIPAS39	GMPPB	CHAT	LAMA3	GMPPA	CCDC78	SCO2	KCNQ2	NLRP12	HYDIN	HDAC4	RAC1	NR0B1	UFSP2	RBCK1	COL12A1	CYP7B1	SNX14	TP73	EBF3	BRAT1	LYRM4	ATP6AP2	STX3	KRT5	MARS1	AQP2	SCN4A	DCDC2	ASNS	SUPT16H	ASL	MOCS2	MMUT	NDUFA11	FOXRED1	H1-4	VPS50	PSMB10	SOX10	DUT	NR1H4	MCIDAS	NUP214	SLC12A6	ITGB3	DNAL1	CDC42BPB	CIC	UNC13D	SLC38A3	NOS1AP	ATP1A3	NUDT2	HTRA2	GLRB	NAA20	ADA	SPTBN4	LYST	SCNN1A	TSFM	GLUD1	CARMIL2	TOR1A	SCN8A	CACNA1I	PCDHGC4	CHRND	KRT14	BRAF	HID1	CAV1	CHAMP1	RIPOR2	ATP5F1D	WDR45B	GRIN1	CACNA1C	ANO1	IRS4	TRMT5	AMACR	SOX11	DGAT1	UPF3B	MYO1H	DNAAF6	SLC6A3	DOHH	NSRP1	COX10	MAG	KYNU	ATP6V0A1	AP3B2	SCN9A	MYO5B	VPS45	TPI1	FOCAD	HNF4A	SLC10A2	KIF12	TSPYL1	DNM1L	SMN1	ATP13A3	LTBP1	SPATA7	TMEM240	SLC6A5	FRMD5	SELENON	NFIX	NHLRC2	UQCC2	ATP6V0A4	ITGA2B	FARS2	CLPB	CLCN3	PURA	RRM2B	SLC39A7	SELENOI	TNFRSF11A	COL7A1	HPS5	ALDH7A1	PPCS	MRPL3	RP1L1	ARX	MYBPC3	PKHD1	CALM2	ATP2A1	BTK	CDSN	ATP6AP1	SLC35A2	SH3PXD2B	DGUOK	UGT1A1	SLC5A1	STT3A	NR3C2	GRIK2	RIPK1	AGPAT2	CHST14	HADHA	NSD1	STXBP1	HSPD1	CD320	DNAI2	STAT3	KCNC2	PLXNA1	SECISBP2	MMAB	RBL2	KIF14	HPDL	MDH2	TPM1	FGF13	NLRC4	C12orf57	NFASC	ATP11A	ACADVL	ADA2	DNASE2	RNF125	LAMB2	NFU1	TNNT1	PIGU	MRPS34	SMARCA2	GGCX	ANK1	PIGP	ALG11	SIN3A	ABHD16A	AUTS2	PLPBP	NLRP3	MAGEL2	SMARCAD1	SLC37A4	GAD1	WASHC4	TNFSF11	NKX2-1	USP18	NDUFAF3	SLC1A2	TRMU	HADHB	SLC51B	HADH	PXDN	VDR	CTNNB1	ACADS	ATP1A1	HR
HP_LOSS_OF_SUBCUTANEOUS_ADIPOSE_TISSUE_IN_LIMBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOSS_OF_SUBCUTANEOUS_ADIPOSE_TISSUE_IN_LIMBS	PPARG	CIDEC	LMNA	ZMPSTE24	LIPE	CAV1	PLIN1	LMNB2
HP_HEMOGLOBINURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMOGLOBINURIA	CASK	ALDOA	G6PD	CD46	CFI	PIGT	PIGA	PIEZO1	CFH	NT5C3A	HELLPAR	CD59
HP_TYPE_I_TRANSFERRIN_ISOFORM_PROFILE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPE_I_TRANSFERRIN_ISOFORM_PROFILE	DPM2	DOLK	ALG11	ALG2	ALG13	ALG6	MPI	PMM2	ALG8	ALG3	ALG1	DDOST	SRD5A3	MPDU1	MAGT1	SSR4	DPM1	DPAGT1	DPM3
HP_PROLONGED_PARTIAL_THROMBOPLASTIN_TIME	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLONGED_PARTIAL_THROMBOPLASTIN_TIME	ALG12	LMAN1	HLA-DQB1	F2	GNE	F5	GGCX	SOS1	VPS33B	FAH	ALG2	F12	B4GALT1	AKR1D1	PGM1	F9	ALG13	ABCD3	MCFD2	F11	PMM2	F8	SLC37A4	LZTR1	GATA6	F10	EFL1	DPM1	KLKB1	HLA-DQA1
HP_BICARBONATURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BICARBONATURIA	EHHADH	OCRL	ALDOB	GATM	SLC34A1	NDUFAF6
HP_LACTICACIDURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACTICACIDURIA	MT-ATP6	LIPT1	NDUFA9	NDUFS4	MT-ND2	LDHD	MT-ND4	LYRM4	GATM	PET117	PDP1	MT-TW	MT-ND1	NFS1	MT-TV	BCS1L	MT-TK	TRMU	NDUFB10	SLC25A21	MT-TL1	MT-ND5	ATPAF2	MT-ND6	NFU1	SDHD	MT-ND3	SUCLG1
HP_FOAM_CELLS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOAM_CELLS	NPC1	PIK3CG	LCAT	SMPD1	APOE	NEU1	HLA-DRB1	CSF2RB	LIPA	ASAH1	CSF2RA	NPC2	SC5D	GLB1
HP_RECURRENT_MYOGLOBINURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_MYOGLOBINURIA	COQ2	PYGM	LPIN1	MT-CO1	MT-CO3
HP_GRANULAR_OSMIOPHILIC_DEPOSITS_GROD_IN_CELLS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GRANULAR_OSMIOPHILIC_DEPOSITS_GROD_IN_CELLS	DNAJC5	CTSD	NOTCH3	CLN8	CLN6
HP_HYPOMETHIONINEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOMETHIONINEMIA	MTRR	PRDX1	MMACHC	MMADHC	MTR	ABCD4	MTHFR
HP_PROGRESSIVE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE	PCLO	NDUFS7	SLC20A2	HPDL	KCNT1	GPT2	CACNA1A	KCTD7	C19orf12	SPG11	TJP2	OPA1	CSF1R	LMNB2	SNORD118	ALDH18A1	ATAD1	NIPA1	SLC12A6	MT-TT	SOST	SYNJ1	MAP2K1	COASY	UCHL1	GBA1	NDUFAF2	SGCA	KMT2B	TWNK	NUP85	COQ2	MFSD2A	NKX6-2	NEFH	AGTPBP1	SYNE1	DNMT1	TRAK1	STUB1	TUBB4A	LIMS2	KLC2	KCNC1	ISCA2	PRKRA	GNS	GLUD2	POLG	TFAM	ADK	ASAH1	VPS13A	DRD3	XPR1	KCTD17	DPM1	PDGFB	SNCAIP	ANO5	RETREG1	COL6A2	JAG2	RTN2	GBA2	SOX18	RARS2	GEMIN5	LAMB1	SMAD9	HK1	SETX	PMPCB	ELMO2	ANTXR2	LMNB1	MECR	SPRY2	WASHC5	SBF1	COL4A3	POLR3B	NOP56	ATP11A	TBP	QARS1	TRAPPC6B	AIMP1	COCH	UBA5	POLG2	RBCK1	PYCR2	PABPN1	CHCHD10	ZFYVE26	DNAJB11	DEGS1	ATXN2	DIABLO	PIK3R5	ATL1	NUP107	KCNQ4	DDHD2	TTN	BRAT1	WT1	NALCN	RNASEH1	MARS1	GOSR2	TNFRSF11B	LMNA	POMGNT1	RUBCN	AIFM1	ISCA1	DCDC2	ASNS	MOCS1	CFHR5	PNPLA6	MOCS2	DGKE	KIF1A	TXN2	NUP160	COPB2	VAC14	DARS1	EXOSC9	ATXN8OS	REPS1	COL6A3	COL4A5	SNCA	NUP214	KCNK3	CERS1	SLC52A3	PTRH2	TRAPPC12	ADH1C	IREB2	SGPL1	KIF1C	HSPD1	TRPC3	PLA2G6	VPS53	MPV17	SLC39A14	ACER3	FA2H	TBK1	BSCL2	SMN1	MAPKBP1	EPRS1	TNFRSF11A	WDR45B	TRAPPC2L	GRHL2	VRK1	PNPLA8	NBEAL2	ELP2	CLPB	INPP5K	AFG3L2	SLC25A4	PRUNE1	SLC6A3	NR4A2	SLC33A1	ABCD1	AP5Z1	MYORG	MED17	IBA57	NUP93	ERLIN1	IRF2BPL	MYH14	UMOD	TREX1	OPTN	DNM1L	B4GALNT1	SMN2	ERLIN2	MTAP	SEC61A1	AKT1	SPAST	CTC1	INF2	RRM2B	CAD	MECP2	PCNA	ALS2	STIM1	FHL1	SQSTM1	MTRFR	PLCE1	FIG4	SLC9A1	MAPT	TK2	COL4A4	NDUFS1	SLC52A2	MICOS13	MYO1E	PIEZO2	TBCE	ABCD3	CTSF	CRAT	POLR3A	TYMP	TBC1D24	SIGMAR1	COQ8B	KIF5A	NAGLU	ADA2	TTR	PEX16	MRE11	NUP133	VCP	PDGFRB	MRPS34	MFF	PRICKLE1	AARS2	PDXK	EMC1	YARS2	RNASEH2C	AIMP2	GNAS	AAAS	HINT1	ATXN3	PUM1	CHRND	VPS13C	FAN1	SLC44A4	ELP1	PRDM8	CCNO	DMXL2	NDUFB9	MGME1	FTL	CYP7B1	FKTN	VARS1	LYRM7	UBQLN2	NDUFA12	XRCC1	COL6A1	PKD2
HP_SLOWLY_PROGRESSIVE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLOWLY_PROGRESSIVE	STIM1	COA7	IGHMBP2	SPG11	SMN1	POMT1	GDAP2	BSCL2	AFG3L2	CFL2	MTMR14	ADSS1	MCM2	SIGMAR1	LRP12	KIF1A	DNM1L	KCND3	GARS1	TEAD1	SPG21	PDYN	TRIM32	CCDC88C	MYMK	FARS2	MYPN	ATP1A1	TGM6	SETX	RYR1	MORC2	DZIP1L	GNB4	PMP2	PMP22	KBTBD13	DNA2	AP4B1	ATP7A	MAG	SYT14	MAP3K20	ALS2	MPZ	VMA21	CHCHD10	CLN8	MYH7	CACNA1G	PRX	FBXO38	TTN	ACTN4	MECP2	B4GALNT1	DDHD1	FLNC	TMEM240	ERLIN2	GRM1	LMNA	HSPB3	PRKCG	PEX10	PANK2	GAN	PYROXD1	KCNC3	COL6A3	HPCA	MTPAP	MFN2	DNM2	TBC1D24	ALDH18A1	NLRP3	KY	PDK3	DNAJC6	CRPPA	DYSF	WNK1	COL6A2	MYOT	ALG14	ACTA1	DARS2	DYNC1H1	DPAGT1	POGLUT1	COL6A1	REEP2	TOR1AIP1	C19orf12	PNPLA2	SYNE1	FZD6	PARK7	MARS1	IBA57	NDUFA13	FRG1	PINK1	CPT1C	SPTBN2	SURF1	ATP6AP2	DCTN1	NEFL	WARS1	ALG2	VWA3B	TFG	ITPR1	AIFM1	CRYAB	RETREG1	LRRK2	LRP5	RFC1	FBXO7	FN1	SLC5A7	CHKB	DNAJB6	CWF19L1	HNRNPDL	TPP1	SCN9A	TIA1	MME	ELOVL5	SLC34A2	ABHD12	RNASET2	PEX2	ORAI1	FAT2	SLC25A4	MCM3AP	COX6A1	DAB1	KIF1B	AR	DNAJB2	HSPB1	LRSAM1	TENM4	FZD4	TMEM43	CLCN5	HEPACAM	GJB1	PLP1	FLVCR1	GYG1	LAMA2	PLD3	EMD	NOL3	GBE1	PDE8B	EEF2
HP_RAPIDLY_PROGRESSIVE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RAPIDLY_PROGRESSIVE	DNAJC5	PRNP	NR1H4	HLA-DQB1	NPHS1	PSEN1	EPM2A	BAG3	NAXE	SGCG	CRYAB	NHLRC1	NPHS2	ATP13A2	PLA2G6	FHL1	COQ6	TARDBP	PEX10	DYSF	APOE	CSF1R	ARHGDIA	PANK2	PLEKHG5	DCTN1	PLEC	MFSD8	LYRM7	PNKP	SCARB2	SNCA	C9orf72	POLG	GRN	GDAP1	DNAJC6
HP_PACE_OF_PROGRESSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PACE_OF_PROGRESSION	STIM1	IGHMBP2	PCLO	SLC20A2	VLDLR	MTMR14	MCM2	SIGMAR1	LRP12	KCNT1	GPT2	KCND3	TEAD1	PDYN	SPG11	FARS2	OPA1	LMNB2	SNORD118	ALDH18A1	NIPA1	RYR1	MORC2	MAP2K1	NDUFAF2	DNA2	SYT14	MFSD2A	NKX6-2	VMA21	DNMT1	TRAK1	TUBB4A	LIMS2	SGCG	KLC2	MECP2	ISCA2	ATP13A2	FLNC	GRM1	PANK2	KCNC3	XPR1	MFSD8	DPM1	HPCA	PDGFB	HOXB1	COL6A2	NLRP3	JAG2	RTN2	MYH7	COL4A3	GFPT1	GEMIN5	SMAD9	PMPCA	HK1	ANTXR2	ACTA1	LMNB1	MECR	SPRY2	WASHC5	TOR1AIP1	PLA2G6	NDUFA13	FRG1	MYOT	ATP11A	QARS1	ATP6AP2	DCTN1	AIMP1	WARS1	C9orf72	UBA5	ITPR1	POLG2	CHRNE	AIFM1	PABPN1	RETREG1	DNAJB11	DEGS1	PRNP	DIABLO	HLA-DQB1	FBXO7	FN1	PIK3R5	ATN1	HNRNPDL	KCNQ4	DDHD2	MME	NALCN	ABHD12	RNASEH1	FHL1	MARS1	COQ6	GOSR2	TNFRSF11B	DYSF	LMNA	PEX2	FAT2	RUBCN	DCDC2	ASNS	MOCS1	DAB1	CHCHD10	PNPLA6	LRSAM1	PLEC	DYNC1H1	GJB1	DGKE	PLP1	GYG1	LAMA2	COPB2	NOL3	COA7	REPS1	COL6A3	NR1H4	SMN1	ASAH1	SNCA	NUP214	NPHS1	POMT1	SLC52A3	ADSS1	TRAPPC12	ADH1C	IREB2	KIF1A	GARS1	MPV17	CCDC88C	FA2H	TBK1	MAPKBP1	EPRS1	WDR45B	TGM6	NBEAL2	CLPB	INPP5K	AFG3L2	SLC25A4	NR4A2	SLC33A1	ABCD1	AP5Z1	ALS2	MYORG	MPZ	PSEN1	IBA57	NUP93	EPM2A	CACNA1G	MYH14	UMOD	TREX1	COL4A4	STUB1	OPTN	TMEM240	SMN2	ERLIN2	HSPB3	APOE	SPAST	INF2	SQSTM1	PDK3	DNAJC6	MAPT	TK2	SLC52A2	DARS2	DPAGT1	PIEZO2	POGLUT1	NPHS2	CTSF	CRAT	PEX10	POLR3A	MARCHF6	SPTBN2	SURF1	COQ8B	KIF5A	NAGLU	ADA2	NEFL	MRE11	VCP	PDGFRB	DNAJC5	LRP5	RFC1	PRICKLE1	PDXK	YARS2	KRT12	RNASEH2C	TIA1	YEATS2	ELOVL5	HINT1	ATXN3	PMP22	CHRND	TWNK	VPS13C	MCM3AP	FAN1	SLC44A4	COX6A1	DNAJB2	CCNO	DMXL2	TNFRSF11A	FTL	FKTN	VARS1	LYRM7	FLVCR1	NDUFA12	PLD3	XRCC1	EMD	GBE1	COL6A1	STARD7	NDUFS7	GDAP2	CFL2	HPDL	CRYAB	ATP2B3	FGF14	CACNA1A	KCTD7	C19orf12	MYMK	TJP2	CSF1R	MYPN	ATAD1	SETX	SLC12A6	MT-TT	SOST	SYNJ1	PMP2	COASY	UCHL1	GBA1	GRN	SGCA	KMT2B	TUBB6	AP4B1	ATP7A	NUP85	TRPV4	COQ2	NEFH	AGTPBP1	SYNE1	CLN8	BAG3	PRX	FBXO38	KCNC1	PRKRA	GNS	PRKCG	GLUD2	POLG	ARHGDIA	TFAM	ADK	VPS13A	DRD3	KCTD17	SNCAIP	ANO5	MTPAP	SCARB2	MFN2	DNM2	KY	GBA2	SOX18	CRPPA	RARS2	LAMB1	PMPCB	ALG14	ELMO2	PNPLA2	PARK7	SBF1	POLR3B	PINK1	NOP56	TBP	TRAPPC6B	ALG2	COCH	VWA3B	TFG	RBCK1	PYCR2	ZFYVE26	LRRK2	ATXN2	SLC5A7	CHKB	ATL1	DNAJB6	CWF19L1	NUP107	TTN	SLC34A2	BRAT1	NHLRC1	WT1	POMGNT1	ISCA1	CFHR5	AR	HSPB1	TENM4	MOCS2	HEPACAM	TXN2	NUP160	VAC14	DARS1	EEF2	EXOSC9	SCN8A	ATXN8OS	COL4A5	BSCL2	KCNK3	CERS1	ILDR1	PTRH2	NAXE	SGPL1	DNM1L	KIF1C	HSPD1	TRPC3	SPG21	VPS53	TRIM32	SLC39A14	ACER3	ATP1A1	TRAPPC2L	GRHL2	VRK1	DZIP1L	GNB4	PNPLA8	ELP2	KBTBD13	PRUNE1	SLC6A3	MAG	MAP3K20	MED17	ERLIN1	IRF2BPL	ACTN4	B4GALNT1	DDHD1	MTAP	SEC61A1	AKT1	PLEKHG5	GAN	CTC1	RRM2B	CAD	PYROXD1	PCNA	ATG5	TBC1D24	MTRFR	PLCE1	CLDN14	FIG4	SLC9A1	WNK1	NDUFS1	PDE10A	MICOS13	MYO1E	REEP2	TBCE	ABCD3	FZD6	TARDBP	TYMP	CPT1C	TTR	PEX16	NUP133	GDAP1	MRPS34	MFF	AARS2	EMC1	SAMD12	TPP1	SCN9A	AIMP2	GNAS	AAAS	PUM1	RNASET2	ORAI1	ELP1	KIF1B	PRDM8	NDUFB9	FZD4	TMEM43	MGME1	CLCN5	CYP7B1	PNKP	UBQLN2	PDE8B	PKD2
HP_NONPROGRESSIVE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NONPROGRESSIVE	COL4A3	GFPT1	TRPV4	MARCHF6	PMPCA	VLDLR	SAMD12	KRT12	ATN1	PDE10A	ILDR1	ATG5	YEATS2	HOXB1	COL4A4	ATP2B3	FGF14	CHRNE	CLDN14	STARD7	SCN8A	TUBB6
HP_CENTRALLY_NUCLEATED_SKELETAL_MUSCLE_FIBERS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRALLY_NUCLEATED_SKELETAL_MUSCLE_FIBERS	SMN1	MICU1	MYH7	TPM3	MATR3	MTMR14	ACTA1	GGPS1	TRIP4	MYF6	TOR1AIP1	HNRNPA2B1	DPM3	CAPN3	RYR1	TRIM32	MLIP	CCDC78	TTN	DNM2	BVES	MTM1	ANXA11	CAV3	SIL1	TWNK	POLG	POMT1	SYNE1	TNPO3	ORAI1	STIM1	SMPX	CASQ1	SELENON	SPEG	JAG1	TPM2	PYROXD1	UNC45B	BIN1	CAVIN1	HNRNPA1	FXR1
HP_CYTOCHROME_C_OXIDASE_NEGATIVE_MUSCLE_FIBERS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CYTOCHROME_C_OXIDASE_NEGATIVE_MUSCLE_FIBERS	TWNK	RRM2B	COX10	POLG	MIEF2	PUS1	SLC25A4	COA3	NDUFA4	MRPL44	SURF1	LRPPRC	BRAT1	POLG2	TK2	AARS2	TYMP	COX6A2	TACO1	MT-TN	COA8	ETHE1	TRMT5	MT-TE	TRMU	COX6B1
HP_MULTIPLE_MITOCHONDRIAL_DNA_DELETIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_MITOCHONDRIAL_DNA_DELETIONS	TWNK	POLG	SLC25A4	RRM2B	LIG3	POLG2	MGME1
HP_LIMB_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_MUSCLE_WEAKNESS	IGHMBP2	CHCHD10	TFG	PNPLA6	SMARCE1	FHL1	VCP	HSPD1	MTMR14	PI4KA	HSPB1	SIGMAR1	LRP12	MFN2	LRP4	GAN	GBF1	CHRNA1	SPG11	ACTA1	NEFL	TPM2	LDB3	RTN2	EXTL3	ALDH18A1	PLOD1	NIPA1	MORC2	SGCG	DGUOK	ATL1	SYNE1	DDHD1	RRM2B	VMA21	SH3TC2	ASAH1	SORD	SMO	DMD	BSCL2	ATP7B	DYSF	REEP1	CFL2	PMP22	NDRG1	SLC25A21	POLG	SYT2	CHRND	TBCE	JAG2	MUSK	KBTBD13	KPNA3	CPT1C	WASHC5	FGD4	BAP1	ERGIC1	LMNA	SCYL1	MYL2	COL6A2	BVES	PHKA1	ACOX1	CYP27A1	GDAP1	LBR	POLG2	HSPG2	PABPN1	CCNF	NF2	CCND1	PRNP	DNMT3B	PRX	CAPN3	HK1	DYM	TTN	DDHD2	EGR2	CYP7B1	ANO5	PHYH	MYPN	GNB1	MTTP	HACD1	LRSAM1	BICD2	DYNC1H1	GJB1	FBLN5	VWA1	KARS1	GYG1	LAMA2	CRPPA	COA7	MYH14	ATL3	SLC25A4	MYH7	SQSTM1	DES	GARS1	MPZ	MPV17	LYST	GNB2	AARS1	ALAD	SMARCB1	COX20	TYMP	SMN1	ABCD1	CRYAB	AP5Z1	FLI1	SLC25A1	CHAT	KCNJ18	LIG3	LPIN1	PNPLA2	SMN2	ERLIN2	HSPB3	MTRFR	COLQ	GMPPB	SPAST	FLNC	INF2	SELENON	SPTLC1	PPOX	DSTYK	VHL	TK2	ADSS1	CHRNB1	HMBS	SLC52A2	NEB	UBAP1	TIA1	PIEZO2	POGLUT1	MYOT	TRAF7	CHRNE	MARS1	MLIP	CPOX	KIF5A	COL25A1	HARS1	DHTKD1	ITGA7	COL13A1	CAPN1	POMT1	MRPS2	DNM2	SPART	GFAP	HADHA	HINT1	MCM3AP	COX6A1	TPM3	DNAJB2	COL6A1	AMPD3	SLC5A6	PNKP	MAP3K20	SLC33A1	GNE	MATR3	FA2H	TMEM43	SACS	KIF1A	SPTLC2	RNF170	PLEC	MT-ATP6	EMD	MT-CO3	TRIM32	SLC12A6	SYNE2	PMP2	AGRN	MME	TWNK	TRPV4	NEFH	AMPD1	SMCHD1	FBXO38	ADAR	RAB7A	NUP62	COL6A3	SLC5A7	VPS13A	AK9	PDGFB	COL12A1	HEXB	KY	GBA2	SBF2	NF1	HSPB8	SPG21	VAMP1	ZFYVE27	TRIP4	SBF1	AKT1	DCTN1	MAPT	ZFYVE26	PDK3	NOTCH2NLC	RASA1	DOK7	PIGN	AR	SPG7	DMXL2	BIN1	MYO9A	PRORP	HNRNPA1	KLHL41	GAA	SCO2	SLC18A3	PIK3CA	TERT	RYR1	IBA57	CAV1	L1CAM	ATP1A1	LIPE	YARS1	PEX7	CACNA1S	GIPC1	POPDC3	SCN4A	SECISBP2	SMPX	RAI1	MTAP	POU3F4	SARDH	SNAP25	PYROXD1	AFG3L2	PLP1	GALC	MYF6	SUFU	CADM3	SCYL2	HYCC1	LMOD3	ANXA11	RAPSN	TDP1	BTD	CD59	TCAP	ATP5MC3	HADHB	EMILIN1	FUZ	KCNJ10	RNASEH1	SDHA	ORAI1	JAG1	ACTN2	KIF1B	MT-CO1	MTHFR	GABRA3
HP_SCAPULAR_WINGING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCAPULAR_WINGING	PAX3	KLHL41	FHL1	VCP	CSGALNACT1	CUL7	GFPT1	MYH7	TMEM43	ALG2	SQSTM1	CAPN3	COLQ	C19orf12	TK2	NEFL	MYPN	TTN	DYSF	EMD	TPM2	SYNE2	SGCG	SGCA	SPRED2	ATP6V0A2	SGCB	NEB	GDF11	SMCHD1	SMPX	CCDC8	ASH1L	LMNA	SEPTIN9	OBSL1	PAX1	SPEG	COL6A3	GNE	POLG	PYROXD1	SYNE1	COL12A1	KCNJ2	DSTYK	GYG1	FLNA	SGCD	DPAGT1	BIN1	LGI4	GMPPB	FBN1	KBTBD13	CRPPA	ACTA1	LAMB2	POGLUT1	MYH2	FLNB	RYR1	EYA1	FRG1	TPM3	DNM1L	PTPN11	COL6A2	OPA1	ANXA11	MYBPC1	BRAF	TRPS1	TWNK	TGFB3	TRPV4	EMILIN1	TRIO	POMT2	PRR12	TNPO3	RAF1	ANO5	ALG14	LRIF1	BICD2	COL6A1	VWA1
HP_DISTAL_AMYOTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_AMYOTROPHY	CHCHD10	PNKP	NDUFA9	PNPLA6	FXN	SPART	MYOT	VCP	GNE	NEMF	MED25	CUL4B	HSPB1	SACS	ZBTB20	LRP12	MFN2	KIF5A	SPTLC2	GBF1	CHRNA1	C19orf12	FBLN5	SPG11	NEFL	CPLANE1	LDB3	EGR2	COL13A1	SETX	SLC12A6	MORC2	PMP2	MSTO1	COASY	CAV3	ATL1	MAG	MME	ATP7A	TRPV4	MPZ	PLEKHG5	SH3TC2	GDAP1	ZC4H2	SLC39A13	PRX	SLC25A46	KLC2	BSCL2	DYSF	RAB7A	REEP1	ANG	POLG	COMP	SLC5A7	ASAH1	SLC25A21	SYT2	SPAST	VPS13A	TBCE	FLRT1	KIF1A	VAPB	ACTA1	CPT1C	VAMP1	TOR1AIP1	MYH7	YY1	PRPS1	FGD4	DNM2	SPTLC1	IDUA	PMP22	FUS	GARS1	ATXN2	ATXN3	DCTN1	PHKA1	ZFYVE26	KDM5C	JPH1	LITAF	PDK3	PIK3R5	HK1	DOK7	NOTCH2NLC	ANO5	CEP126	TDP1	ABHD12	TIA1	LRSAM1	GJB1	AGL	MYO9A	COA7	SVBP	IGHMBP2	SOX10	ATL3	SLC52A3	NGLY1	GBA2	ADSS1	KIF1C	RYR1	SPTBN4	MPV17	SLC18A3	NDRG1	AARS1	IBA57	SMN1	LMNA	KLHL9	ATP1A1	SDHB	VRK1	ABCA1	KRT5	MTRFR	VPS13D	YARS1	SLC25A1	CHAT	MYH14	GIPC1	HARS1	B4GALNT1	SMN2	RAI1	HSPB3	PTRH2	PEX10	SBF2	FLNC	GAN	SNAP25	INF2	MTMR2	HSPB8	ATXN1	ALS2	MT-TE	AFG3L2	CCT5	TNR	DCAF8	CYP27A1	NEB	APTX	SDHAF1	CADM3	HINT1	AGRN	MARS1	KANSL1	SDHA	TYMP	PLOD3	SIGMAR1	BICD2	TIMM8A	SQSTM1	CHP1	MATR3	MRE11	TCAP	ATAD3A	SDHD	FUZ	TFG	STUB1	TWNK	JAG1	TPM3	ACTN2	KIF1B	KRT14	SLC5A6
HP_LATE_ONSET_PROXIMAL_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LATE_ONSET_PROXIMAL_MUSCLE_WEAKNESS	KCNJ18	CACNA1S	SCN4A	DES	KCNE3	CRYAB	GABRA3
HP_DIFFICULTY_STANDING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFICULTY_STANDING	TFG	GRM1	DYM	DYSF	ABCC8	GRIN2A	KY	CYP27B1	TK2	SMS	TRMT5	MYOT	ATP2B3	VDR	WARS2	SLC34A3	GPAA1	TBCE	CLN8	FAR1	CYP2R1
HP_GENERALIZED_AMYOTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_AMYOTROPHY	KLHL41	COL6A3	MYPN	WARS2	PUS1	C2orf69	FUS	COL12A1	SCO2	SPTBN4	MYOD1	RNF170	SPG11	TPM2	LMNB2	TTN	TRIP4	LMNA	TARDBP	DNA2	SQSTM1	SELENON	PNPLA6	BAG3	PIGA	NEB	CNBP	NDE1	POLG	PNPLA2	TCF4	COL6A1	HNRNPA1	SPEG	VCP	PYROXD1	NAGA	MUSK	ALDH18A1	YARS2	SGCD	TUBA1A	COL6A2	BIN1	DARS2	MYH7	KBTBD13	TK2	RBM28	GPR35	DOK7	SLC52A2	VAMP1	MST1	SLC16A2	TBK1	NUP88	GMPPB	RYR1	TPM3	SCYL1	ACTA1	LAMP2	C9orf72	MGME1	LEMD3	SLC18A3	HNRNPA2B1	CARS1	TWNK	POMT1	SEMA4D	POLR3A	NOTCH2NLC	RAPSN	CHCHD10	OGDH	UNC45B	PGAP1	DALRD3	DNAJC19	ACADSB	EXOSC9
HP_PROXIMAL_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_MUSCLE_WEAKNESS	STIM1	IGHMBP2	CHCHD10	FKRP	FHL1	MYOT	MTMR14	MT-ATP6	LRP12	MFN2	ACTA1	LRP4	FKTN	GAN	TK2	NEFL	SPG11	TPM2	LDB3	COQ8A	NARS2	MORC2	SGCG	OAT	UBA1	DNA2	RRM2B	VMA21	SORD	CNBP	DMD	FLNC	DYSF	CASQ1	POMT2	NDRG1	MT-TN	SLC25A21	POLG	SYT2	VCP	COL6A2	CHRND	SGCD	JAG2	BIN1	MUSK	TOP3A	GFPT1	VAPB	RUSC2	ORAI1	SPTLC1	LMNA	LTBP4	GMPPB	BVES	C9orf72	PHKA1	RYR1	GDAP1	HNRNPA2B1	ABHD5	CHRNE	HSPG2	PABPN1	POMGNT1	JPH1	PRX	COL12A1	PYGM	HK1	DOK7	TTN	ANO5	BICD2	PLEC	DYNC1H1	VWA1	POMT1	LAMA2	CAVIN1	CRPPA	MYH14	COL6A3	SMN1	OPA1	MYL1	SLC25A4	SLC52A3	MYH7	PDE8B	INPP5K	CHRNA1	PRKAR1A	COL9A3	CRYAB	ITGA7	SGCB	REEP1	SLC25A1	CHAT	HEXB	KCNJ18	KCNE3	LPIN1	PNPLA2	RAPSN	SMN2	DAG1	SPEG	TWNK	MT-TL1	MTMR2	ATXN1	PPOX	ALS2	SYNE1	MT-TE	POLR3GL	SCN4A	ADSS1	HMBS	TPM3	NEB	MICU1	DPAGT1	POGLUT1	SDHAF1	MYH2	PRKACA	MLIP	DGUOK	CPOX	ATP7B	AGRN	COL13A1	SDHD	ARMC5	SLC22A5	DNM2	SELENON	SLC5A7	POMGNT2	SIGMAR1	TRAPPC11	COL6A1	FXR1	TRDN	HACD1	CAV3	CFL2	FUS	POLRMT	TMEM43	TNXB	CAPN3	MYMK	MYPN	EGR2	EMD	MT-CO3	TRIM32	SLC12A6	SYNE2	SGCA	NEFH	FBXO38	HLA-DRB1	ASAH1	AK9	ACADM	SBF2	KY	VAMP1	SH3TC2	TRPV4	MYBPC1	DES	ALG2	TFG	RBCK1	CHKB	DNAJB6	PIGN	MSTO1	GAA	DMXL2	MYO9A	HNRNPA1	CACNA1S	NOTCH2NLC	COLQ	SLC18A3	ACTN2	MPZ	SDHB	PNPLA8	TARDBP	LIPE	DPM3	POMK	CHRNB1	SQSTM1	MAP3K20	PDE11A	MT-TL2	FLAD1	GIPC1	POPDC3	SECISBP2	SMPX	TAFAZZIN	MTAP	PLEKHG5	SNAP25	PYROXD1	GATM	LAMB2	TBK1	MYF6	SDHA	CPT1C	LAMP2	ANXA11	TCAP	NUTM2B-AS1	POLG2	ALG14	PMP22	JAG1	LRIF1	LARGE1	GNAS	UNC45B	BTNL2	MT-CO1	GABRA3	ACBD5
HP_CALF_MUSCLE_PSEUDOHYPERTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALF_MUSCLE_PSEUDOHYPERTROPHY	TRIM32	DAG1	SGCA	DMD	FKRP	POMK	CAV3	GMPPB	SGCB	PPARG	NEB	ANO5	SGCG	POMT1	POMGNT1	POMT2	CRPPA	MYH7
HP_EXERCISE_INDUCED_MUSCLE_CRAMPS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXERCISE_INDUCED_MUSCLE_CRAMPS	CHCHD10	MLIP	ATP2A1	PYGM	CAV3	LAMP2	PGK1	PFKM	CPT2	RYR1	LAMA2	DMD	PGAM2	HINT1	PYGL	SLC16A1
HP_SKELETAL_MUSCLE_HYPERTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKELETAL_MUSCLE_HYPERTROPHY	AMPD2	SLC25A1	SLC26A4	FKRP	ARSB	VPS37D	CPSF3	POU1F1	NKX2-5	NKX2-1	MTMR14	CAV3	CUL4B	HS2ST1	ABCC8	SDHD	TSHB	LMNA	GPC4	ZFP57	IDS	TSHR	FKTN	FOS	GNE	IPO8	POP1	MEG3	DPM3	PLEC	EHMT1	GNPTAB	SGCG	METTL27	IFT140	PTEN	MBD5	SGCA	PLAGL1	SEC23B	TRAF3IP2	SCN4A	AIP	LIMS2	CCDC47	MSTN	PAX8	GTF2IRD1	DMD	GNS	SMARCA4	POMT1	PEX1	DNMT3B	HYMAI	POMT2	SNX14	PRKAG2	VPS33A	ANO5	HSPG2	SLC5A5	SGCD	JAG2	POLR3A	PLIN1	CRPPA	BCL7B	TPO	MLXIPL	ZEB2	MYH7	DVL1	DYSF	LARGE1	NCF1	IYD	LAMA2	FDX2	PSMB8	PMP22	FRG1	PPARG	LTBP4	IL6ST	GMPPB	GLB1	FKBP6	AGA	SMAD4	ACTB	ARCN1	DLK1	HRAS	RFC2	PQBP1	DUOXA2	HNRNPK	POMGNT1	TBL2	GATA1	RTL1	PIGW	UBE3A	LHX3	ARID1A	IGF2	ALG3	TTN	PIK3CA	GTF2I	FHL1	RASA1	MED13L	NEK9	PROP1	CLIP2	AR	CHCHD10	GAA	CAVIN1	BIN1	ALG6	KCNQ1	MT-TE	STX1A	ROR2	MAN2B1	SRY	CIZ1	IDUA	DNAJC30	FIBP	SMN1	DHX16	SETBP1	ATRX	MPZ	SDHB	LHX4	SNIP1	USF3	RYR1	TG	FUCA1	CLCN1	CDKN1C	ATP6V1B2	FOXG1	KCNH1	CDCA7	MAP3K20	SGCB	INPP5E	INSR	MAN2C1	WNT5A	CIDEC	ZBTB24	POPDC3	GPC3	DAG1	BUD23	HELLS	HEXB	CAPN3	BAZ1B	AFF4	ELN	STT3A	POMK	SHOX	HESX1	MICU1	LIPE	MYF6	ERLIN2	DUOX2	RMRP	EIF4H	KCNJ11	GTF2IRD2	KCNMA1	LIMK1	BSCL2	TBCK	AKT1	RNF125	TCAP	TMEM270	GUSB	DNM2	THRA	KCNA1	KCNN3	POMGNT2	PIK3C2A	SMARCB1	PIGS	GPR101	FOXE1	KLLN	ALG8	SNRPN	PRPS1	KCNQ1OT1	CAV1	UNC45B	AGPAT2	SDHC	TRMU
HP_MUSCLE_FIBER_NECROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_FIBER_NECROSIS	MLIP	COL6A3	TWNK	POLG	SMN1	ACTA1	DHX16	BVES	PHKA1	POPDC3	SGCG	COL6A2	SGCA	MEGF10	COL6A1
HP_MYOFIBRILLAR_MYOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOFIBRILLAR_MYOPATHY	PTEN	KLHL40	AKT1	TTN	LDB3	ACTA1	FHL1	MYOT	FLNC	DNAJB6	BAG3
HP_NECK_FLEXOR_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NECK_FLEXOR_WEAKNESS	POLG	ACTA1	NEB	CHRNA1	DES	LRP4	CHRNE	SPTLC1	ALS2	TRIM32	MYOT	TTN	SPG11	CHRND	DYSF	FUS	LMOD3	RAPSN	SGCG	CAV3	KBTBD13	COL13A1	AGRN	CHRNB1	CHCHD10	TPM2	CNBP	RNASEH1	DOK7	GYG1	SCN4A	SIGMAR1	SELENON	RRM2B	CFL2	KLHL41	AK9	LAMA2	MYH7	MUSK
HP_SHOULDER_GIRDLE_MUSCLE_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHOULDER_GIRDLE_MUSCLE_ATROPHY	FRG1	TRIM32	FKRP	TPM3	GNE	SMN1	VCP	LMNA	SGCB	UNC45B	MYH7	TRPV4	DES	SMN2	ACTB
HP_QUADRICEPS_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_QUADRICEPS_MUSCLE_WEAKNESS	TRIM32	RRM2B	TTN	TWNK	COL6A3	ADSS1	VCP	SLC25A4	COL6A2	DYSF	COL6A1	PHKA1	POLG	COL12A1	POLG2	MFN2	DMD	HSPG2	GDAP1
HP_AUTOPHAGIC_VACUOLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AUTOPHAGIC_VACUOLES	RILPL1	LRP12	CRYAB	LDB3	ACTA1	MYOT	ACTN2	TNPO3
HP_MITOCHONDRIAL_MYOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MITOCHONDRIAL_MYOPATHY	MT-TQ	NDUFB10	NDUFS4	NDUFAF2	NDUFS3	SLC25A4	MT-ND2	NDUFS7	MT-ATP6	OPA1	MT-CYB	MT-ND6	NDUFS2	FDX2	MT-TV	NDUFAF8	NDUFAF5	MT-CO2	NDUFV1	ISCU	MT-TW	TYMP	CAV3	TK2	MT-ND1	DGUOK	MT-ND5	NDUFA11	NDUFA6	MT-TC	NDUFA1	PUS1	MT-TL1	MT-ND3	PNPLA8	TIMMDC1	MT-TK	RRM2B	FOXRED1	TMEM126B	NDUFS6	NDUFAF3	MT-TT	MT-CO3	AGK	MT-ND4	NDUFV2	MT-TS2	MT-TF	POLG2	NDUFS8	POLG	NDUFB9	NDUFB11	DNA2	NDUFAF4	TWNK	MSTO1	NUBPL	NDUFAF1	NDUFS1	YARS2	NDUFB3	MT-CO1
HP_EXERCISE_INDUCED_MYALGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXERCISE_INDUCED_MYALGIA	ACADM	STIM1	LDHA	PYGM	DNM2	AMPD1	DYSF	MTMR14	CAV3	PGK1	RNASEH1	CPT2	ANO5	MYF6	LPIN1	RYR1	TRIM32	MLIP	RRM2B	FLNC	MT-CO3	BIN1	ACADVL	PHKA1	AMPD3	LMNA	MATR3	PGAM2	MT-CO1	HNRNPA1
HP_MYOCLONIC_SPASMS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOCLONIC_SPASMS	PIK3CA	BAP1	STX16	TERT	SMARCB1	NF2	SMARCE1	GNAS	MOCS1	AKT1	INPP5E	MOCS2	PDGFB	SLC1A4	BRAT1	SMO	TRAF7	MT-ATP6	SUFU	TXN2
HP_CONGENITAL_MUSCULAR_DYSTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_MUSCULAR_DYSTROPHY	FKRP	SELENON	COL6A3	POMT1	LAMA2	CRPPA	COL12A1	ITGA7	MYH7	CHKB	POMK	TTN	POMT2	FKTN	LARGE1	POMGNT1	GMPPB	LMNA	COL6A2	COL6A1
HP_GENETIC_ANTICIPATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENETIC_ANTICIPATION	ATXN7	ATN1	SPAST	ATXN3	ATXN10	TERT	CACNA1A	ATXN1	ATXN2
HP_SPORADIC	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPORADIC	ATXN8OS	GNAS-AS1	NRAS	NPAP1	HNF1B	CACNA1S	LETM1	CPLX1	NLGN4X	SNORD115-1	TBP	STX16	PAFAH1B1	KIT	ADH1C	ZBTB20	NIPBL	MKRN3	PWRN1	PTDSS1	LMNB2	EP300	FOXG1	NLGN3	ACAT2	SNORD116-1	EHMT1	PWAR1	CTBP1	MT-TT	OGG1	TSC2	NSD2	MAP2K1	IGF2	GBA1	FGFR3	PBRM1	ALDH18A1	NR4A2	COQ2	TSC1	TSHR	DRD5	FGFRL1	TUBB4A	BCL10	CDON	SNRPN	RB1	GLUD2	GNAQ	NFIX	SKI	AKT1	RNF139	RAI1	FLNB	SDHC	SNCAIP	PDGFRA	SIX3	RPS14	MEF2C	CREBBP	VHL	MAPT	GJA5	PIK3CA	IRF6	HNF1A	MAGEL2	SPECC1L	SUMO1	STK11	GNAS	ADA2	FLCN	GJA8	JAK2	HRAS	PSEN1	GATA1	TINF2	ALX3	GLI2	MTOR	UBE3A	ATXN2	NFIA	SDHB	KRAS	CHD7	SIN3A	PCSK1	HERC2	FGFR1	MYC	RPS6KA3	SHANK3	KIF1B	HLA-DRB1
HP_PELVIC_GIRDLE_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PELVIC_GIRDLE_MUSCLE_WEAKNESS	RYR1	MAP3K20	DYSF	TPM3	CHRNA1	MYOT	FKRP	LRP4	CHRNE	TRIM32	TTN	DPM3	PLEC	CHRND	SMN1	MYL2	PHKA1	RAPSN	TPM2	ITGA7	DGUOK	COL13A1	AGRN	CHRNB1	SGCB	DNAJB6	TNPO3	HNRNPDL	ACTA1	DOK7	PHKB	SMCHD1	SCN4A	PNPLA2	SMN2	HACD1	GNE	FLNC	VCP	SELENON	AK9	ANO5	MT-TE	GYG1	MYH7	MUSK
HP_INCREASED_MUSCLE_FATIGUABILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_MUSCLE_FATIGUABILITY	TRAPPC11	CAV3	SCN4A	CACNA1S	CHRND	SERPINA6	AMPD1	DMGDH	PGK1	KCNJ18	AMPD3	RRM2B	STIM1	KCNE3	DBH	SLC16A1	GABRA3
HP_EPISODIC_FLACCID_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISODIC_FLACCID_WEAKNESS	KCNJ5	SCN4A	CACNA1S	KCNJ18	KCNJ2	KCNE3	GABRA3
HP_TYPE_1_FIBERS_RELATIVELY_SMALLER_THAN_TYPE_2_FIBERS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPE_1_FIBERS_RELATIVELY_SMALLER_THAN_TYPE_2_FIBERS	MTM1	RYR1	MYL2	ACTA1	TPM2	SELENON	TPM3	MYH7
HP_SKELETAL_MYOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKELETAL_MYOPATHY	COMP	SDHA	SDHB	PNPLA2	MT-TE	HADHA	ALDOA	SDHAF1	SDHD	TAFAZZIN	HADHB
HP_REDUCED_SUBCUTANEOUS_ADIPOSE_TISSUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_SUBCUTANEOUS_ADIPOSE_TISSUE	POLR3A	SOX18	TGFB3	KCNK9	PLIN1	INSR	FBN1	AGPAT2	TOP3A	ATP6V1E1	LMNA	ATP6V1A	ERCC6	CAV1	TGFB1	GNB2	NAA10	ZMPSTE24	BSCL2	SKI	IGF1R	PPARG	PTF1A	H4C5	SLC2A2	ERCC8	LEMD2	RBM28	SLC25A24	FH
HP_CALCINOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALCINOSIS	ANAPC1	LMNA	CASR	SAMD9	ZMPSTE24	GALNT3	GNAS	RECQL4	LBR	GEMIN4	AGXT
HP_UTERUS_DIDELPHYS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UTERUS_DIDELPHYS	HOXA13	INTU	GATA3	DYNC2I2	IFT80	DYNC2H1	PPP1R12A	AXIN1	WDR35	DYNC2I1	WT1
HP_BRUXISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRUXISM	EEF1A2	HNRNPK	ANK3	PUS7	CDKL5	HTT	NTNG2	SPTBN1	CAMK2B	DHX30	AFF3	MECP2	ZEB2	GABBR2	TRAPPC9	PGAP3	SHANK3	GNB2	KIF15	FOXG1	GRIN1	H4C5	ATG7	CERT1	NEXMIF	MBD5	ZBTB18	VPS13A	PDE2A
HP_NEVUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEVUS	PLP1	CHRNG	H19	VPS37D	TSC1	SDHD	THPO	COL3A1	PRKAR1A	MC1R	CBL	FGFR2	RBM28	IGF2	KRAS	GNAQ	CAMK2A	RRAS2	METTL27	CDK4	LEMD3	DVL3	FZD2	TSC2	OCA2	TERT	ASXL1	SEC23B	EDEM3	CYP26C1	MYOC	COL7A1	WNT5A	SLC26A2	NRAS	BLOC1S5	TERF2IP	PTPN11	GTF2IRD1	PUS3	LTBP2	TNFRSF11A	PIK3CA	RRAS	MRAS	IFNG	RIT1	ERCC3	ACD	MITF	CDC42	BCL7B	LZTR1	MLXIPL	CDKN2B	ASXL2	DVL1	NCF1	TP63	PTCH2	SMO	PTCH1	HPS1	FKBP6	KRT14	EED	HRAS	RFC2	XPC	TBL2	FGFR3	BAP1	TGFB3	TRIM37	HDAC8	NEK9	RAF1	GTF2I	CLIP2	MPL	PTEN	SUZ12	KCNQ1	ROR2	STX1A	HEATR3	H1-4	SLC45A2	DNAJC30	GNA11	ERF	TEK	DUT	PCGF2	SPTBN1	SDHB	USF3	BRAF	H4C5	CDKN2A	DDB2	CDKN1C	XPA	ERCC2	FKBP10	MGMT	RBM8A	SOS2	TASP1	TYR	CDK10	FOCAD	FGFR1	PUF60	CDH11	SPRED2	SUFU	BUD23	NFIX	TYRP1	SETBP1	AKT1	CDK13	RASA2	BAZ1B	ARL6IP6	ELN	FBN1	TNFRSF11B	ERCC4	SMC3	KANSL1	CHRNA7	PDE4D	EIF4H	ALX4	GTF2IRD2	LIMK1	MSL3	NXN	SLC25A24	LBR	CDH3	TMEM270	EZH2	PDE11A	NSDHL	MYH3	POT1	MED25	DIS3L2	KLLN	STK11	KCNQ1OT1	SOS1	CYP1B1	HEXB	ERCC5	SDHC
HP_PSORIASIFORM_DERMATITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSORIASIFORM_DERMATITIS	FOXP3	LIG4	IGKC	MSMO1	PI4KA	HLA-DRB1	HLA-B	CACNA1G	TTC7A	IL2RA	TP63	GJB2	ADAM17	IL36RN	IRF2BP2	NFKB2	SLC29A3	KNSTRN	HLA-C	EGFR	PIK3CD	CARD14	DSG1	GATA3	FLI1	CTLA4	IGHG2	AP1S3	GJB6	HLA-DQB1
HP_PERIODIC_PARALYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIODIC_PARALYSIS	KCNJ18	KCNJ5	SCN4A	CACNA1S	CA2	CDH23	FAH	ABCB6	KCNJ2	KCNE3	GABRA3
HP_PULP_CALCIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULP_CALCIFICATION	FGF3	COL1A1	COL5A2	GALNT3	FAM20A	COL5A1	DSPP
HP_STAGE_5_CHRONIC_KIDNEY_DISEASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STAGE_5_CHRONIC_KIDNEY_DISEASE	NOD2	CEP290	COL4A5	TP53RK	ALMS1	NPHP4	LMX1B	IFT122	ANLN	DCDC2	NOS1AP	IQCB1	SGPL1	PKD2	OSGEP	SRCAP	MYOCD	CC2D2A	CLCN5	ZMPSTE24	TMEM67	GATM	PRKCD	SLC41A1	MAPKBP1	WDR19	CPT2	COL4A3	TBC1D8B	DZIP1L	APOL1	GANAB	IFT140	GLIS2	CLCNKA	NPHP1	CTNS	NUP93	NUP85	RAD51C	PLCE1	NDUFAF6	RRM2B	CD151	NPHP3	BBIP1	AVIL	COQ8B	NPHS2	ARHGDIA	ACTN4	TRAF3IP1	TTC21B	TMEM231	PAX2	PTPRO	COL4A6	NUP133	WT1	APRT	NUP107	LAMB2	SLC34A1	XPNPEP3	NUP205	IFNG	TSC1	INF2	JAG1	ALG5	CRB2	NEK8	RPGRIP1L	NUP37	COL4A4	DNAJB11	MYO1E	GON7	EMP2	LAMA5	GAPVD1	SPRY2	MAGI2	BSND	TTC26	MAFB	ANKFY1	MEFV	TSC2	NPHS1	SDCCAG8	LZTFL1	IFT43	RNU7-1	LAGE3	CLCNKB	AGXT	TRPC6	CD2AP	SLC7A7	AHI1	DSTYK	FN1	MUC1	BICC1	CEP83	CD81	SMARCAL1	SLC37A4	EHHADH	INVS	NUP160	COQ6	YRDC	ANKS6	FAN1	CEP164	TPRKB	HNF1B	CFHR5	PKD1	PKHD1	TMEM126B	C3	BNC2	MMUT	GSN	DGKE	ALG9	ARHGAP24	DAAM2
HP_PILI_TORTI	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PILI_TORTI	CDH3	NECTIN1	KRT85	WRN	PEX1	HEPHL1	LMNA	ST14	PEX6	BCS1L	ERCC2	NECTIN4	DSG4
HP_EXCESSIVE_SALIVATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXCESSIVE_SALIVATION	UBE3A	PRPS1	GFM2	PCGF2	SPART	LMNB2	TANGO2	ADGRG1	SPTBN1	CAMTA1	SRPX2	ATP1A3	KIF7	NAA20	GPT2	SNRPN	HIVEP2	FOXG1	AP4B1	CACNA1I	MEG3	AP4E1	POLR3A	CHAMP1	FBXO28	EXTL3	MBD5	GABBR2	SATB1	AP4M1	DLK1	SCN9A	TASP1	SH3TC2	PDE10A	DNM1L	MECP2	SCN1A	PAK3	GNS	SHMT2	ATP7B	PI4KA	SETD5	HERC1	KIF15	SMARCA2	NFIX	GABRG2	PMP22	ATRX	PTS	TBX1	VPS13A	DLAT	CERT1	NEXMIF	SYNGAP1	ALS2	HNRNPH2	RSRC1	SCN2A	ZEB2	SATB2	GRIN2A	CLDN11	GRIK2	HLA-B	SLC16A2	STRADA	FBLN1	POLR3B	KCNC2	POU3F3	PCDH19	OCA2	ZC4H2	GCH1	NRXN1	HPDL	NALCN	ATP6AP2	TH	IKZF1	RTL1	HDAC4	ANXA11	MED27	ARX	SLC1A4	NTNG2	TSPOAP1	ATP10A	FOXP1	FOXP2	EIF2S3	DEAF1	MED12	SLC25A12	AP4S1	QDPR	MRE11	BCORL1	TUBB2B	SPEN	NONO	GABRA1	SLC12A5	PLA2G6	NAXD	SLC9A6	SCN1B	VAC14	ZBTB11
HP_EUNUCHOID_HABITUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EUNUCHOID_HABITUS	GNRH1	HS6ST1	GNRHR	KISS1	ESR2	TACR3	PROKR2	FGF17	ANOS1	TAC3	TUBB4A	FGF8	WDR11	CYP19A1	NSMF	PROK2	CHD7	FGFR1	KISS1R	SPRY4	DUSP6
HP_MINICORE_MYOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MINICORE_MYOPATHY	RYR1	MYH7	SELENON	TRIP4	CFL2	FXR1
HP_DEPOSITS_IMMUNOREACTIVE_TO_BETA_AMYLOID_PROTEIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEPOSITS_IMMUNOREACTIVE_TO_BETA_AMYLOID_PROTEIN	PSEN1	ABCA7	TREM2	DYSF	GNE	PSEN2	APP	TOMM40	SORL1
HP_SHORT_MIDDLE_PHALANX_OF_TOE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_MIDDLE_PHALANX_OF_TOE	FGFR3	FGFR2	FGFR1	TRPV4	HOXD13
HP_IRREGULAR_ILIAC_CREST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRREGULAR_ILIAC_CREST	GPX4	DYM	COL2A1	LMX1B	IDH1	PAM16
HP_LIMB_GIRDLE_MUSCLE_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_GIRDLE_MUSCLE_ATROPHY	CRPPA	ACTA1	FKRP	POMT2	HNRNPDL	SGCB	FHL1	MYH7	TMEM43	POMT1	DES	ANO5	SMN2	MORC2	LMNA	FKTN	TRAPPC11	FRG1	TRIM32	DAG1	TPM3	GNE	SMN1	VCP	EMD	UNC45B	SYNE1	CAPN3	SYNE2	TRPV4	GYG1	DGUOK	SGCA	DPM3	ACTB	HNRNPA1
HP_NEMALINE_BODIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEMALINE_BODIES	KBTBD13	KLHL41	RYR1	KLHL40	ACTA1	CFL2	NEB	NEFL	TPM2	MYPN	TPM3	NDUFB3	LMOD3	PYROXD1	KY	MYO18B	TNNT1
HP_MUSCLE_ABNORMALITY_RELATED_TO_MITOCHONDRIAL_DYSFUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_ABNORMALITY_RELATED_TO_MITOCHONDRIAL_DYSFUNCTION	NDUFB10	POLG	NDUFS4	PUS1	NDUFAF2	SLC25A4	MT-ND2	MT-ATP6	OPA1	MT-CYB	MT-ND6	NDUFS2	NDUFAF8	NDUFAF5	NDUFV1	ISCU	CAV3	TK2	MT-ND1	MT-TC	MT-ND3	PNPLA8	TIMMDC1	TRMT5	MT-ND5	SUCLG1	MT-TL1	COX6B1	TWNK	RRM2B	COX10	PNPT1	FOXRED1	TMEM126B	MT-CO3	MT-TL2	AGK	MRPL44	MT-TF	AARS2	DNA2	MT-TV	NUBPL	NDUFAF1	MT-TK	MT-TN	NDUFS1	YARS2	MT-CO1	MT-TQ	MIEF2	NDUFS3	NDUFA4	SLC25A10	SURF1	NDUFS7	TOP3A	FDX2	MT-CO2	MT-TW	TYMP	COX6A2	TACO1	DGUOK	FARS2	NDUFA11	NDUFA6	NDUFA1	COA8	POLG2	NDUFS6	NDUFAF3	MT-TT	MT-ND4	COA3	LRPPRC	NDUFV2	MT-TS2	BRAT1	NDUFS8	NDUFB9	NDUFB11	NDUFAF4	MSTO1	LIG3	MGME1	ETHE1	MT-TE	NDUFB3	TRMU
HP_TYPE_1_MUSCLE_FIBER_PREDOMINANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPE_1_MUSCLE_FIBER_PREDOMINANCE	KLHL41	COL6A3	SMN1	FKBP14	MYL1	MTMR14	NEB	GFPT1	ALG2	LRP4	RYR1	TNNT1	COLQ	ACTN2	ACTA1	MYPN	TTN	TPM2	LMOD3	KLHL40	CAV3	AGRN	CHRNB1	PNPT1	AGTPBP1	SGCG	SCN4A	SELENON	SPEG	CFL2	AK9	DNM2	GYG1	DPAGT1	COL6A2	CHRND	BIN1	GMPPB	MYH7	MUSK	KBTBD13	LAMB2	CHRNA1	MYF6	MYH2	CHRNE	TPM3	CCDC78	GARS1	RAPSN	COL13A1	POMT1	DOK7	ALG14	SLC25A12	KCNA1	VCP	UNC45B	COL6A1	FXR1
HP_RIMMED_VACUOLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIMMED_VACUOLES	CHCHD10	SMN1	ACTA1	VCP	GNE	MATR3	GGPS1	NEB	TMEM43	TIA1	ADSS1	LRP12	HNRNPA2B1	SQSTM1	GIPC1	MYH7	RILPL1	TTN	LMNA	DPM3	COL6A2	EMD	ANXA11	SYNE2	SIL1	TCAP	MAP3K20	NEFH	DNAJB6	TNPO3	HNRNPDL	FHL1	NOTCH2NLC	PABPN1	PNPLA2	SMPX	HNRNPA1	COL6A3	ACTN2	COL6A1	SYNE1	COL12A1
HP_NEONATAL_DEATH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_DEATH	GLUL	PIP5K1C	CTSD	TMEM70	FLNB	NDUFS6	EDNRB	GPHN	HSPG2	GLE1	ATAD3A	FANCB	FOXF1	HTRA2	FAM20C	LBR	FGG	SFTPB	ETFDH	NDUFAF4	NDUFB11	NEB	ALG8	TTC26	ETFA	ITGA6	AP1S1	GBA1	FGFR3	WT1	GLI3	NDUFB10	LMOD3	INTU	MBTPS2	FGA	MRPS16	ZIC3	NFU1	NPHP3	SUCLG1	QRSL1	PPFIBP1	SLC25A4	RAD51C	LMOD2	JAM3	ETFB	CDK5	MDFIC	LMOD1	GAD1	GATC	FGB	AARS2	ZMPSTE24	DSP	ATP1A2	PHGDH	BCS1L	MOCS2	CEP55	PET100	TARS2	ABCA3	SLC25A24	IL6ST	SDHD	PLEC	PKHD1	PAICS
HP_PHENOTYPIC_VARIABILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHENOTYPIC_VARIABILITY	PAX3	COL6A3	KRT86	FKRP	EXOSC2	RTEL1	POMT1	KRT83	PITX2	SAMHD1	FGFR2	MT-CYB	MT-ND6	MCM2	KIF1A	FGF12	SAMD9L	MPDZ	ACTA1	SCN1A	SPG21	SERAC1	GATA1	DLX5	CANT1	MAPKBP1	GLI3	RHOBTB2	SHH	MT-TC	NIPA1	ANO5	SLC5A2	LMNA	F7	AFG3L2	MT-TL1	TUBB6	SLC2A1	PSAP	PDHX	NEFH	DHFR	TWIST1	MT-CO3	VPS13D	CLPX	IBA57	AGK	CSPP1	WDR26	CDON	GJB6	PFKM	STX1B	CD3E	HARS1	MT-TF	SLC25A46	FBXO38	RYR1	ACTN4	SCNN1A	GP6	GM2A	EYA1	DHDDS	NRIP1	POMT2	SPAST	DAG1	TMEM126A	MFN2	DNAJC21	COQ8A	RARS1	TUBB2A	VEGFC	DPM1	GLI2	GRIN2D	COL6A2	MT-CO1	SH3KBP1	FIG4	ATL1	GFPT1	MT-TQ	KRT81	F2	GUCY1A1	SETX	SLC52A2	TPM3	SFXN4	DARS2	PIGN	GLE1	MT-TV	PNPLA2	PRPS1	EPHB4	MT-CO2	ATP6V1A	SLX4	NAA10	GTPBP3	SCN4A	MT-ND5	KIF11	GCH1	SURF1	RMND1	ADD3	PTPRO	RNASEH2B	MT-ND1	TBCK	IARS1	STIM1	PIGH	POLG2	CHRNE	MT-TK	DPAGT1	VCP	DEGS1	LAMA1	SCN2A	NUP107	BRPF1	HDAC8	MYH7	GABRB2	MT-TS2	WWOX	MT-TW	EIF2S3	PMP22	SPR	TNFRSF11B	PLAA	QDPR	GRIA4	VWF	PEX2	ORAI1	MPC1	CFD	NDUFA1	TH	SLC25A26	TPM2	PRDM8	TENM4	CA5A	TUBB2B	FKTN	CIT	KCNMA1	NDUFAF1	SELENON	KCNA1	ROGDI	COL6A1
HP_DEATH_IN_CHILDHOOD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEATH_IN_CHILDHOOD	COX5A	ERCC6	NUP214	C2orf69	ATP5MK	STT3B	NAXE	ATP7A	PTPRC	FGG	NDUFV1	LTBP4	OAS1	JPH2	RNASEH2A	TSFM	DTYMK	TIMMDC1	TSEN54	KARS1	C18orf32	GNPTAB	FCHO1	ATPAF2	NPC2	ELOVL4	SUCLG1	ATP1A2	SLC33A1	MFSD2A	TSEN2	MADD	SMN1	PIGY	PMM2	AARS2	MBTPS2	FKRP	ACTL6B	NFIX	NHLRC2	FARS2	PEX1	CLCN3	RINT1	TPP2	SNAP29	HEXB	PRPS1	VPS33A	TNFRSF11A	PPCS	ADCY5	MRPL3	ERCC1	ABCB11	ABAT	TK2	RARS2	SEC31A	RAB27A	TMEM70	MTX2	GFAP	LAMA3	ERCC2	PLCB3	KRT5	SURF1	LAT	NEB	PEX5	MT-TN	AP1S1	UBR1	WT1	ATG7	SMARCD2	ZNFX1	FGA	LAMB2	DLD	EXOSC8	MFF	ALG11	RNASEH2C	MRM2	CD3G	RNU4ATAC	GAD1	MPI	FGB	PEX2	OGDH	TTC7A	SLC25A22	HMGCL	PQBP1	EFL1	PET100	ACAD9	SCYL2	FADD	LYRM7	NAXD	VPS50	SLC17A5	FTO
HP_STILLBIRTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STILLBIRTH	ALPL	SLC26A2	ESCO2	POR	PTH1R	MUSK	COL2A1	NSDHL	CENPF	LBR	TRIP11	RNU4ATAC	HYLS1	GDF5	OSTM1	COL11A1	ZMPSTE24	NEK8	PITX1	GBA1	PHGDH	FLNB	WT1	CEP55	FLNA	CALCRL	IL6ST	SLC35D1	LGI4
HP_TYPIFIED_BY_INCOMPLETE_PENETRANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPIFIED_BY_INCOMPLETE_PENETRANCE	PROKR2	PTCH2	RORB	OPA1	SHH	PROK2	UCHL1	FGFR1	CACNB4	FH	WNT10B	IKZF1	MN1	PARN	DCC	FGF23	KLF13	DDX41	PTCH1	PRPF8	STAT1	KRIT1	MET	TOR1A	GPR161	EPHB4	POT1	GATA5	DLX5	CTNNB1	MT-CO3	MT-ND6	TERC	SMARCE1	SUFU	IFIH1	ATP1A3	KMT2B	CRELD1	NPRL3	SLC2A1	SIX1	TBK1	TRPV4	MNX1	VMA21	SCN1B	KIF5A	SDHB	INAVA	NF2	CPOX	RPS29	BRCA2	TTN	ACTN4	LZTR1	PAX2	TLR3	FOXE3	PRKCG	ANO3	EYA1	NRIP1	NR5A1	MT-ND1	PITX1	ATXN10	LRP5	RTEL1	COL4A1	CHRNA2	CHRNA4	JAG1	GLI2	CHRNA7	MFN2	TERT	RAD51	SGCE	CTLA4	SIX3	ATL1	MT-CYB	TM4SF20	CFC1	PRCC	COL4A2	SMAD9	PRRT2	BMPR2	GJA5	DLST	MT-ND5	VWF	GABRB3	HCN1	PRPF31	GRIN2A	GABRG2	CDH23	MT-ND4	ERBB3	KIF11	SLC12A5	NLRP12	FLCN	DCX	GREB1L	MT-ND2	PDGFB	GJA8	LRRK2	SCN4A	DSTYK	MT-ND4L	PTEN	OTULIN	ELOVL4	RELN	HNRNPDL	CACNA1A	CLCN2	CAV1	RBM12	CACNA1S	PUM1	NPRL2	ELP1	SMARCB1	FMR1	DEPDC5	MT-ATP6	MSH6	LRSAM1	TENM4	TICAM1	GJB1	CILK1	ATP1A2	GJC2	KIF1B	RANBP2	THAP1	PKD2
HP_SHOULDER_DISLOCATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHOULDER_DISLOCATION	COL1A1	FLNA	AEBP1	COL5A1	SALL4	NEDD4L	ARFGEF2	CHST3	ARF1	COL5A2	NGLY1	MAP1B	B3GAT3	ERMARD	TMTC3	COL1A2
HP_ABNORMALITY_OF_UPPER_LIMB_EPIPHYSIS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_UPPER_LIMB_EPIPHYSIS_MORPHOLOGY	COMP	MRPS28	MIA3	COL9A3	NEK1	NPR3	FLNB	LETM1	IFT140	CPLX1	BGN	RPS6KA3	ARSL	TRPS1	KCNH1	TRIP11	GNPAT	COL9A2	IHH	FGFR3	BMPR1B	MGP	GPX4	COL2A1	RAB23	IFT52	ERCC8	TRPV4	FLNA	CTBP1	NPR2	COG4	PRKAR1A	NSD2	GDF5	SLC26A2	RUNX2	SALL1	PCNT	SRCAP	POR	FGFRL1	IFT172	TONSL	IFIH1	TRAPPC2	ATR	ERCC6	EIF2AK3	EXT1	KIF15	NKX3-2	EVC2	RMRP	MATN3	COL9A1	DYM	EVC
HP_BOWED_HUMERUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BOWED_HUMERUS	LAMA5	KIAA0753	B3GALT6	RNU4ATAC	RSPO2	FLNB	LBR
HP_ABSENT_FOREARM_BONE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_FOREARM_BONE	RBM8A	LMBR1	TBX5	FLNB	FANCE	WNT7A	XRCC2	TBX3	CHD7	DONSON	CHN1	FANCA	FANCB	FGFR2	RIPK4	GLI3	FANCD2	FANCC	FANCL	SALL4	SF3B4	TRIO	MAFB	ZIC3	RECQL4
HP_ABNORMALITY_OF_THE_RADIAL_HEAD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_RADIAL_HEAD	CREBBP	EXTL3	SOX9	EP300	DVL1	CLCN3	BMP1	SHOX	CHRNG	FZD2	COL5A2	B3GALT6	AFF3	NIPBL	SRCAP	FLNA	EXOC6B	LMX1B	CDC45	MAP3K7	COL27A1	GSC	PRKAR1A	CD96	NOG	ARID1B	IFITM5	WNT5A	CHST3	SLC39A13	SCARF2	ATR	DONSON	B3GAT3	RECQL4	B4GALT7	TBX15	COL1A1	ANAPC1	SKI	COL5A1	GPC6	KIF22	ASXL1	NOTCH2	ROR2	ESCO2	ERCC1	RNU4ATAC
HP_ABNORMALITY_OF_RADIAL_EPIPHYSES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_RADIAL_EPIPHYSES	COL9A3	IFIH1	SLC26A2	COL9A2	BGN	COL9A1
HP_ABNORMAL_ULNAR_METAPHYSIS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ULNAR_METAPHYSIS_MORPHOLOGY	MMP9	COL10A1	COMP	MAGEL2	MMP13	ANAPC1	COL2A1	RECQL4	SNRPN	NDN
HP_ABSENT_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_HAND	TP63	EOGT	LMBR1	FBXW4	NOTCH1	PLXND1	DLX5	RBPJ	SEM1	ARHGAP31	BTRC	REV3L	EPS15L1	DLL4	TBX3	WNT10B	DOCK6	DLX6	IKBKG
HP_SCLEROSIS_OF_HAND_BONE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCLEROSIS_OF_HAND_BONE	TRPS1	LMNA	EBP	SLC34A2	SRCAP	LEMD3	NGLY1	ERCC6	EIF2AK3	ERCC8	TONSL	GJA1
HP_MITTEN_DEFORMITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MITTEN_DEFORMITY	COL7A1	MMP1	DSP	COL17A1	KRT5	LAMA3	LAMC2	LAMB3	ITGB4
HP_MACRODACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACRODACTYLY	PTEN	AKT1	PIK3CA	GPR101	AIP
HP_ABNORMAL_2ND_FINGER_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_2ND_FINGER_MORPHOLOGY	BMPR1B	BMP2	RPL10	GPC4	CSGALNACT1	FGFR2	OPA3	HOXD13	GDF5	ANKRD11	INTU	COL2A1	PLOD3	KNSTRN	MEIS2	CANT1	PIK3CD	IFT140	RUNX2	TWIST1	CHSY1	SRCAP	TGDS	NSDHL	GPC3	MED12	MED25	HOXA13	KIF15	PTRH2	FIG4	BHLHA9	HNRNPR	IHH	IRX5	MYCN	LFNG	FLNA
HP_MIDLINE_DEFECT_OF_THE_NOSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MIDLINE_DEFECT_OF_THE_NOSE	ALX3	NF1	FRAS1	ZSWIM6	LONP1	ALX4	TBX4	GRIP1	EFNB1	FREM1	FREM2	ALX1	NUAK2	PTCH1	TFE3	HYLS1
HP_ABNORMAL_3RD_FINGER_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_3RD_FINGER_MORPHOLOGY	PKDCC	DLK1	TWIST1	CHSY1	TBX2	GLI3	TBX3	FGFR2	NSDHL	GNAS	GDF5	MED25	PTRH2	COL2A1	SMC1A	PLOD3	MEG3	KNSTRN	EN1	PIK3CD	IHH	RTL1	SLC26A2
HP_ABNORMAL_4TH_FINGER_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_4TH_FINGER_MORPHOLOGY	TLK2	COL2A1	FBXW11	KNSTRN	TBX2	MECOM	NARS2	GLI3	PIK3CD	IHH	TBX3	KDM5B	COL11A1	SIN3A	ASXL3	KCNJ11	SNRPN	GDF5	ABCC8	NOG
HP_ABNORMAL_5TH_FINGER_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_5TH_FINGER_MORPHOLOGY	UBA2	PIGN	BCOR	BBIP1	WDR4	MKKS	SEMA3E	ODC1	FANCB	VPS37D	TBX1	PHF21A	NSD2	CTCF	BHLHA9	CUL7	HOXD13	UBE2T	DEAF1	RPGRIP1	GPC4	LBR	HYLS1	CASZ1	COL11A1	B9D2	MEGF8	BMP4	SMARCB1	RNU4ATAC	WIPI2	ORC1	DYNC2I1	CEP19	PIGL	IGF2	IFT140	FZD2	EVC	CDT1	WDR35	SPOP	DHCR7	HSPG2	FBXW11	GDF5	TCTN3	ATP2B1	GLI3	NPHP1	ZC4H2	TWIST2	BBS5	SMARCA4	TGDS	PTPN11	LIG4	CCND2	GJA1	CCDC8	TTC21B	RRAS	OBSL1	PCNT	BMP2	SMC1A	RIT1	HNRNPR	KDM5B	PIEZO2	PHIP	DYM	CD96	RPGRIP1L	ARID1B	TCTN1	ORC4	KCNJ2	PALB2	CFAP418	BMPR1B	CREBBP	CDC6	DYNC2I2	DYNC2H1	HOXA13	MLXIPL	SATB2	BRCA2	H3-3B	JAG1	DVL1	TP63	TXNDC15	TRIP13	TBX3	CEP290	AP1G1	AGO2	GDF1	PRDM16	STAG2	SH3PXD2B	MKS1	TCF20	NKX2-5	C12orf57	IGF1	FKBP6	KIF7	FLII	MAN1B1	RAD51C	RUNX2	KMT2A	ARID1A	GLI2	BBS9	TRIO	PDPN	MAD2L2	FANCA	TCTN2	RAI1	ATR	GJA5	SLC2A10	GATA6	ATP6V1B2	CLIP2	BRIP1	EVC2	GATA5	XRCC4	MAP1B	CC2D2A	TRRAP	GATA4	RFWD3	TMEM107	SMARCD1	DPF2	ROR2	SC5D	SPRED1	BBS2	RAD21	SLC9A7	BUB3	KDM4B	TMEM147	PTH1R	CUL4B	KDM6A	DYNC2LI1	NAA20	GABRD	KLF13	NRAS	CHD7	GNB2	MEIS2	PAFAH1B1	KMT2D	ALG12	OFD1	CNOT2	BRCA1	UBE3B	HIC1	PACS1	CSGALNACT1	TMEM67	RAC1	INPP5E	CIBAR1	ZFPM2	GRB10	WNT5A	PITX1	REV3L	RB1	GPC3	FLT4	LTBP1	CHST3	PIGY	CCDC32	TBX15	AKT3	MECOM	B3GLCT	EMG1	MECP2	MMP23B	PLXND1	MAPK8IP3	PRKACB	B3GALT6	BAZ1B	ELN	CCDC28B	AKT1	KIFBP	POLA1	IFT122	EP300	LZTR1	IFT27	ATRIP	USP7	CHRNA7	FLNB	EIF4H	SHANK3	NAA10	CKAP2L	ERCC4	TTC8	SOX6	LZTFL1	KDR	NXN	GJA8	SLC29A3	SMARCE1	SOX11	RBBP8	ZNF462	MBD5	SCAPER	SRCAP	PRR12	BRF1	BBS4	MASP1	AUTS2	IFT80	NONO	GNAS	PUF60	HNRNPH1	SNRPB	CCNQ	TBX4	SOS1	AMER1	TRAPPC9	TRPV4	ACVR1	RSPRY1	DACT1	BUB1	FANCC	TGFBR1	CNOT3	CEP152	BRD4	NEK1	H19	LMNB2	BLM	RPL10	WDR19	CLCN3	KCNK4	FGFR2	PNPLA6	QRICH1	HMGA2	DDX59	RAB18	COL2A1	FGD1	BBS10	BBS12	CBL	SPEN	AMMECR1	RRAS2	METTL27	DVL3	STAG1	XYLT1	SKI	DYNLT2B	HDAC8	ORC6	NKX2-6	SIK3	SMOC1	ZNF141	EFNB1	H4C3	GTF2IRD1	BUB1B	TMEM231	MBTPS2	KDM1A	FGF16	MRAS	SMARCA2	CEP57	PDE6D	UBE3A	TRPS1	IHH	FGFR3	MYL11	ZDHHC9	MYCN	DSP	CITED2	FLNA	PAICS	RAB23	IFT172	BCL7B	MAPRE2	WDPCP	TRAIP	VPS13B	MACROH2A1	SPECC1L	NCF1	CANT1	BBS1	CRKL	TWIST1	IQSEC2	EXT2	LMX1B	RERE	LUZP1	UBR1	ATG7	TMEM237	SDCCAG8	TMEM216	ARPC4	RFC2	PIGH	FANCD2	BRAT1	KAT6B	TBL2	GATA1	TMCO1	PACS2	KRAS	RNF216	GTF2I	OGT	ARMC9	FANCI	DONSON	KCNAB2	B9D1	BPTF	PIK3C2A	SIAH1	SMARCC2	ZMYM2	ALDH1A2	PIK3R2	GMNN	TFAP2A	MAPK1	CEP55	CEP120	PQBP1	KDM6B	XRCC2	CENPE	CENPJ	MAF	CDH11	STX1A	HOXA11	NIN	CSPP1	DNAJC30	KPTN	TBC1D24	JUP	NSUN2	ZNF292	SETBP1	NOG	PLAA	BCR	NIPBL	SNRPN	TRIM32	YWHAE	KAT8	WNT7A	TELO2	PLAG1	KIAA0825	EIF4A3	TFAP2B	PRKCZ	NUP37	IFT74	AFF2	PPP2R1A	SOX4	C2CD3	RBM8A	SOS2	NUP85	CHSY1	ARL6	IFT52	PTEN	SMC3	SPRED2	FANCF	HDAC4	KIF15	BUD23	NFIX	SMO	ESCO2	PYROXD1	RASA2	NEXMIF	KMT2B	IRX5	RAF1	SHOX	MEF2C	CPLANE1	PKDCC	ARID2	MIA3	CDKN1C	LIFR	FANCM	SLX4	UBE4B	ANKRD11	BBS7	IFT43	PLK4	LEMD3	GTF2IRD2	LIMK1	CDC45	FANCL	ATRX	DHPS	SCNM1	DPAGT1	LMBR1	ALX3	TMEM270	L1CAM	SIN3A	BRAF	OTUD5	TMEM218	COX4I1	FANCE	FANCG	PIGS	SALL1	PORCN	RAD51
HP_ABNORMAL_5TH_FINGER_PHALANX_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_5TH_FINGER_PHALANX_MORPHOLOGY	TFAP2B	BMPR1B	ARID1B	GJA1	SRCAP	HOXD13	RBBP8	BMP2	DVL1	NOG	PUF60	ZNF141	WNT5A	RUNX2	GDF5	ATP6V1B2	SMARCB1	GNB2	KIF15	COL2A1	BHLHA9	HNRNPR	IGF2	IFT140	MYCN	ROR2	NIN	GATA1
HP_SYMPHALANGISM_OF_THE_5TH_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYMPHALANGISM_OF_THE_5TH_FINGER	TFAP2B	BHLHA9	GDF5	ROR2	NOG
HP_ABNORMALITY_OF_THE_MIDDLE_PHALANX_OF_THE_5TH_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MIDDLE_PHALANX_OF_THE_5TH_FINGER	TFAP2B	BMPR1B	SRCAP	HOXD13	RBBP8	BMP2	DVL1	NOG	PUF60	WNT5A	RUNX2	GDF5	GJA1	ATP6V1B2	GNB2	BHLHA9	IGF2	IFT140	MYCN	ROR2	NIN	GATA1
HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_5TH_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_5TH_FINGER	SMARCB1	TFAP2B	ARID1B	GJA1	COL2A1	IGF2	HNRNPR
HP_SHORT_DISTAL_PHALANX_OF_THE_5TH_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_DISTAL_PHALANX_OF_THE_5TH_FINGER	SMARCB1	ARID1B	COL2A1	IGF2	HNRNPR
HP_ADVANCED_OSSIFICATION_OF_CARPAL_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADVANCED_OSSIFICATION_OF_CARPAL_BONES	CANT1	XYLT1	B3GALT6	SLC10A7	SETD2	PTH1R	SLC35D1
HP_OSTEOARTHRITIS_OF_THE_SMALL_JOINTS_OF_THE_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOARTHRITIS_OF_THE_SMALL_JOINTS_OF_THE_HAND	TRAPPC2	ASPN	SMAD3	TRPV4	MATN3
HP_DUPLICATION_OF_HAND_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUPLICATION_OF_HAND_BONES	BMPR1B	BCOR	BBIP1	NEK1	KATNIP	MKKS	BLM	POU1F1	WDR19	BHLHA9	MAP3K20	FGFR2	FANCA	CPLANE1	DEAF1	RPGRIP1	SHH	GPC4	LBR	NAA10	TXNDC15	ZNF699	HYLS1	DDX59	B9D2	KIAA0753	MEGF8	RPS26	TCTN2	FANCD2	DYNC2I1	BBS10	BBS12	CANT1	CEP19	EXTL3	TMEM107	SALL4	RPS24	CTBP1	GATA1	AHI1	INPP5E	IFT140	PTEN	EVC	WDR35	PIBF1	TBX1	DYNLT2B	ARMC9	NSD2	TCTN3	DHCR7	GLI3	RPS27	GDF5	FANCE	NPHP1	LZTFL1	GP1BB	FGFRL1	CBY1	ADA2	TBX3	BBS5	SMOC1	ZNF141	EFNB1	PHF8	CCND2	RPS28	SHMT2	TMEM231	RREB1	PIK3CA	TMEM237	MBTPS2	TTC21B	IFT80	PDE6D	CPLX1	FANCC	RPL15	CSPP1	CD96	RPGRIP1L	TCTN1	RPL11	ACTG1	CFAP418	FLNA	LMBR1	RPS29	CEP290	RAB23	DYNC2I2	IFT172	DYNC2H1	TOPORS	HOXA13	WDPCP	DVL1	RPL27	OFD1	RPL35A	CHN1	FANCB	KIF7	LETM1	FGFR3	BBS1	IQSEC2	SMO	TMEM67	TMEM218	FGF10	MKS1	EFTUD2	CC2D2A	FLII	SDCCAG8	TMEM216	RPS10	TMCO1	PORCN	GLI2	ARL13B	BBS9	LHX3	BBS2	NUP107	CEP41	FLNB	ACOX1	CHD7	PIGG	RAI1	PROP1	B9D1	SUFU	EVC2	PIK3R2	TFAP2A	RPL18	CEP120	NELFA	RBM10	MAFB	RPL31	HEATR3	ROR2	RPL5	SC5D	TBX5	SH2B1	GLI1	SETBP1	PLAA	DYNC2LI1	TRIM32	LHX4	HIRA	CDC45	WNT7A	RPL26	RPS19	KIAA0825	TFAP2B	TOGARAM1	IFT74	PNPLA6	SALL1	C2CD3	TWIST1	CHSY1	ARL6	HOXD13	ACTB	TSR2	CIBAR1	WASHC5	AKT3	ZNF423	ARVCF	WNT5A	GPC3	SF3B2	PAH	ESCO2	CEP104	PRKACB	COMT	RPS15A	CCDC28B	CCDC22	RPS20	ARL3	LEMD3	SEC24C	GJA5	GJA1	UBE2T	HESX1	IFT27	TMEM138	FLI1	INTU	BBS7	TTC8	RPS17	PPP2R3C	SCNM1	GJA8	ZIC3	ALX3	FAM149B1	SCAPER	ABCA12	BBS4	RPL35	JMJD1C	OTUD5	PUF60	RNU4ATAC	EBP	KIAA0586	RPS7	DACT1	UFD1	PRKACA	TGFBR1
HP_SYNOSTOSIS_INVOLVING_BONES_OF_THE_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNOSTOSIS_INVOLVING_BONES_OF_THE_HAND	BMPR1B	PAX3	HOXD13	TFAP2B	MYH3	FLNA	NOG	LRP4	MACROH2A1	HOXA13	B3GALT6	LMBR1	PITX1	PTDSS1	FLNB	TWIST1	FGFR3	ZIC1	MAP3K7	EIF4A3	SALL4	NXN	ATP7A	EVC2	RECQL4	TCF12	RBM8A	FGFR2	CHSY1	POR	SHH	GDF5	IHH	SMOC1	NONO	DYNC2LI1	FBLN1	GLI1	ANAPC1	FGF16	APC	BHLHA9	FGF9	ESCO2	PQBP1	EVC	ROR2	PRKACA	PRKACB
HP_SHORT_PALM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_PALM	NPAP1	KDM5C	DVL1	KDM4B	SNORD115-1	CAMTA1	CUL4B	BCR	GPC4	DYNC1H1	MKRN3	ANTXR2	FGFR1	HDAC6	PWRN1	SNIP1	COL11A1	FGD1	RNU4ATAC	DYNC2I1	EVC2	SNORD116-1	PWAR1	PRKAR1A	CAMK2G	DVL3	MBD5	FZD2	WDR35	FBN1	TCF4	INPPL1	CHSY1	SMARCA2	WNT5A	TONSL	COL11A2	TRIP11	ORC1	TBL1XR1	HDAC4	WDR81	GPX4	TRPS1	IFT80	RMRP	PIK3R1	RAI1	B3GLCT	TBCE	HNRNPR	IHH	FGFR2	DPM1	BHLHA9	KCNJ2	KRAS	RBPJ	MRPS28	RAB3GAP2	FLNA	DYNC2H1	SH3PXD2B	MAPRE2	BGN	FGF9	CRKL	MAGEL2	NOG	KAT6B	ANKRD11	SIL1	SCUBE3	MSL3	TMEM53	PIGL	PPP2R3C	COG4	COL2A1	GPC3	GATA1	SMAD4	CRLF1	SIN3A	DYNC2I2	MAP3K7	INPP5K	YY1AP1	WAC	PUF60	EVC	CCBE1	RECQL4	FGFR3	HERC2	PTDSS1	COL9A2	GDF5	MAPK1	IGF1R	TRIO	LMNA	KLHL15	PTH1R	RSPRY1	ADAMTSL2	ROR2	ATP7A	LTBP3
HP_NARROW_PALM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_PALM	MAGEL2	NPAP1	HERC2	UBE3B	VPS13B	SNORD116-1	KANSL1	SNORD115-1	NDN	PWAR1	SMS	KMT2B	MKRN3	GNB1	DPYSL5	PWRN1	AUTS2	SNRPN
HP_PSEUDOEPIPHYSES_OF_HAND_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSEUDOEPIPHYSES_OF_HAND_BONES	BMPR1B	NPR3	LETM1	RAB23	CPLX1	GDF5	NKX3-2	FGFRL1	RPS6KA3	KCNH1	CTBP1	NSD2	SALL1	PCNT
HP_ABNORMAL_GASTRIC_MUCOSA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GASTRIC_MUCOSA_MORPHOLOGY	FOXP3	IGKC	DNAJC30	BCL7B	MLXIPL	VPS37D	RIPK1	WFS1	LRBA	NCF1	NFKB1	PRKCD	FAS	CISD2	EIF4H	SYK	SKIC3	ELF4	CASP10	IPO8	GTF2IRD2	LIMK1	DEF6	FKBP6	METTL27	RFC2	IGHG2	IFIH1	AIRE	FASLG	TBL2	TMEM270	ARID1B	SKIC2	RASGRP1	ABCC2	GTF2I	FOCAD	CDH1	GTF2IRD1	LBR	CARD8	BUD23	CLIP2	PLA2G4A	CTLA4	STX1A	BAZ1B	GBA1	ELN
HP_ABNORMALITY_OF_THE_BILIARY_SYSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_BILIARY_SYSTEM	EPB42	VPS37D	IFT122	POU1F1	YARS1	B2M	CTCF	SLCO1B3	ABCC2	BRCA1	TSHR	USP53	JAK2	ZNF699	PRF1	ETFA	RNASEH2C	TMEM67	GPI	CNOT1	RAB27A	SETD2	HFE	ABCB11	SLC51A	AKR1D1	TP53	IFT140	NPC2	DZIP1L	PEX14	ASXL1	SPOP	NSD2	CCDC115	SHPK	POMC	CASR	DHCR7	PEX26	SPIB	BCS1L	GP1BB	LONP1	GNAS	GALE	HMGCL	ZIC3	TRAF3IP1	ATP7B	SLCO1B1	RREB1	GCGR	APOA1	HADHA	PTPN3	PEX16	COX4I2	SPTB	RFXANK	EPCAM	RINT1	RPGRIP1L	SLC10A1	HNF1B	FCGR2A	FCGR3B	RNASEH2B	TPO	MLXIPL	VPS4A	ABCB4	CALR	HSD17B4	LBR	SLC25A13	LYZ	B9D2	BLVRA	IYD	VIPAS39	EARS2	NEK8	ZFYVE19	TBX1	UGT1A1	MKS1	GATA6	FKBP6	NPHP3	CPA1	SLC26A4	RFXAP	VPS33B	CYP27A1	DUOXA2	IL12RB1	RHAG	SKIC3	APC2	KDM5C	ATP8B1	ALDOB	MECP2	REL	LHX3	KCNN4	ETFB	HBB	IL12A	MARS1	ANKS6	SAA1	SCARB2	SLC4A1	CLIP2	DCDC2	SUPT16H	SLC37A4	FOXF1	CC2D2A	VPS50	SC5D	IGKC	NR1H4	POU2AF1	LETM1	CPLX1	BMP6	F5	SPTBN1	PKLR	SLC16A2	AP1S1	KMT2E	NEUROG3	IL21R	ARSA	RFX5	BRCA2	LYST	GNB2	TG	INTU	KRAS	PKHD1	CPOX	FGA	RHCE	KYNU	FARSB	DHFR	CFTR	FLI1	PSAP	NSD1	PFKM	PEX5	GBA1	PNPLA2	CTRC	TCTN3	TCF4	SCNN1B	B3GLCT	SP110	LSM11	UNC45A	COG7	COMT	BAZ1B	KIF23	ELN	CCDC28B	AMACR	GNE	ATP6AP1	DGUOK	IL18BP	SEC24C	SLC30A10	AP1B1	KIF3B	SCNN1G	ETFDH	SON	PRSS1	EIF4H	NAA10	CLDN1	HBG2	MPV17	WDR19	AIRE	LMNA	RNF43	GYPC	PHKG2	ANK1	RFX6	CEP83	UROS	PAX8	DUOX2	PCSK1	HK1	GALT	FADD	EIF2AK3	CIITA	ATP7A	POLG2	UNC13D	RHD	EPB41	IARS1	NKX2-5	TSHB	SLC44A1	ERCC4	MYO5B	TGFB1	PHKA2	PRKAR1A	TJP2	RNU7-1	PRSS2	ATP6AP2	CTBP1	GALM	METTL27	INPP5E	HYOU1	ARG1	FECH	SPTA1	ADAMTS13	PI4KA	LIPA	TRHR	FGFRL1	STK11	GDF2	CCDC47	SPINK1	PEX3	GTF2IRD1	OCLN	IL36RN	PEX19	STXBP2	UQCRFS1	GLIS3	TFAM	SMAD4	PEX1	ADK	ARL13B	JAG1	ACADVL	POLG	FH	ACVRL1	STX11	PEX6	MMACHC	BCL7B	GPR35	HSD3B7	NCF1	CEP290	CDKN2A	UBR1	PRPS1	TREX1	CDKN1B	GFM1	RFC2	NOTCH2	RBCK1	TBL2	ATP11C	PEX13	RABL3	CYP7B1	IFT172	GTF2I	MED12	TNPO3	PIGG	PROP1	TFE3	PIEZO1	PEX2	TNFSF15	GH1	NELFA	ALG6	ASAH1	STX1A	CYP7A1	TULP3	PEPD	DNAJC30	ESCO2	TTC7A	PALB2	HTRA2	RNASEH2A	IER3IP1	LHX4	DMPK	PEX11B	PERCC1	HIRA	SEC23B	G6PD	INSR	TBX19	PEX12	LMBRD1	KRT18	ARL6	ALDOA	SLC2A1	SMPD1	ARVCF	CDAN1	TPI1	FOCAD	IL2RG	ALAS2	TMEM216	PALLD	ITCH	KIF12	PEX10	COG6	BUD23	ABCG8	IRF5	SLC5A5	PARS2	GALK1	CASK	TMPRSS6	GCLC	MST1	GLRX5	MICOS13	HESX1	PIGA	MMEL1	ABCD3	SCNN1A	ALG8	NPC1	TTC26	GTF2IRD2	LIMK1	USP9X	IFIH1	DEF6	DNASE2	SAMHD1	IGHG2	ADAR	WDR35	DPAGT1	HADHB	TMEM270	LPL	SEMA4D	CD40LG	ENG	JMJD1C	PGM1	RNU4ATAC	PYGL	MED25	BBS1	BAAT	HOXD13	TRMU	SLC51B	SERPINA1	CDIN1	UFD1	NBAS	FUCA1	PKD2
HP_ABNORMALITY_OF_THE_ABDOMINAL_WALL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ABDOMINAL_WALL	PIGN	NLRP3	LRP2	CHRM3	CHRNG	MECP2	ARSB	ODC1	FANCB	VPS37D	IFT122	ABCD4	POU1F1	BMP1	CTCF	BHLHA9	HES7	APC	FOXE3	UBE2T	GPC4	ZFP57	IDS	C1R	LTBP4	GNE	HYLS1	COL11A1	NOTCH1	MEGF8	IPO8	AMH	DYNC2I1	RTL1	FRAS1	SETD2	TGFB2	GATA4	GNPTAB	PLOD1	IFT140	FZD2	WDR35	COL11A2	ELOVL4	ATP6V1A	ACTG2	SHPK	SLC26A2	SPECC1L	DHCR7	FBXW11	C1S	GLI3	ATP6V0A2	GP1BB	MAT2A	PTPN11	ZIC3	LMOD1	MBTPS2	FBN1	MED12	RREB1	KAT6A	RRAS	SCN2A	SKI	RIT1	HYMAI	KDM5B	UBA1	CD96	H19	DIS3L2	HSPG2	FREM2	PALB2	DSE	TP63	FLNA	TWIST2	VANGL2	CREBBP	HLA-DQB1	IGF2	TPO	DYNC2H1	MLXIPL	BRCA2	DVL1	KMT2C	SMCHD1	PRDM5	LOX	PIEZO1	IYD	TBX3	UPB1	ISL1	TGFBR1	COL1A1	TBX1	RIN2	PIGQ	KNSTRN	SH3PXD2B	MKS1	NALCN	COLEC11	FREM1	GATA6	LONP1	EHMT1	FKBP6	NPHP3	AGA	DMXL2	KIF7	RAD51C	FLNB	DUOXA2	LBR	GTF2E2	APC2	HEY2	LHX3	ARID1A	ADAMTS2	MAD2L2	CDC42	RAF1	CHD7	PRKG2	MDFIC	FANCA	MMP14	MCOLN1	AR	NEK9	SGSH	SLC2A10	CLIP2	PIK3R1	BRIP1	AEBP1	SLC37A4	NEU1	CC2D2A	TRRAP	CEP120	GPC6	MESP2	RFWD3	TMEM107	MID1	SIK1	ROR2	TGFBR2	LMNA	CAVIN1	SATB2	MAN2B1	ATAD1	FTO	IDUA	FGFR1	RNF13	KRAS	MANBA	DLL3	MSX1	FOXF1	ALKBH8	CUL4B	EZH2	MYH11	AP1S2	PTDSS1	NRAS	SKIC3	GNB2	COL2A1	SLC25A24	GRM7	CHAMP1	ABCC9	TG	COL3A1	SLC6A5	FUCA1	PAFAH1B1	MYLK	COLEC10	GMNN	CDKN1C	POGZ	SALL1	FBLN5	CDCA7	BRCA1	FARSB	HIC1	PACS1	TASP1	CSGALNACT1	NOTCH3	RAC1	NSD1	DGCR8	DNMT3A	WNT5A	ZBTB24	P3H1	TGDS	GPC3	LTBP1	PIGY	CDKL5	PIEZO2	PAH	ANTXR1	B3GLCT	HELLS	COMT	POLR3GL	BAZ1B	MEG3	RMRP	ELN	HLA-DQA1	CCDC22	DVL3	OCRL	SEC24C	LZTR1	TRAF7	NOTCH2	RPGRIP1L	RIC1	FLI1	SMAD3	CASK	EIF4H	SHANK3	NAA10	GLB1	ZEB1	ERCC4	SOX6	MAPRE2	MFAP5	SET	NXN	BRAF	LFNG	COL1A2	GDF1	SMARCA2	KCNH1	SRCAP	PIGP	PRKG1	PRR12	GUSB	LDHD	NFIA	THRA	MASP1	AUTS2	DUOX2	MYH3	SMARCB1	COL5A1	KDM3B	KCNQ1OT1	SOS1	AMER1	PIK3CD	CLDN19	FANCC	SLC5A6	ATP7A	NDUFA8	IKBKG	PHGDH	CBS	RPL10	GLRB	NKX2-5	ABCC8	TSHB	HIVEP2	CTNND2	HMGA2	ALDH18A1	FGD1	CBL	XRCC4	TNRC6B	FGFR2	RRAS2	METTL27	INPP5E	XYLT1	TSHR	DPH1	PLAGL1	ACTA2	WNT3	PI4KA	ARID1B	MTOR	TRIP11	PAX8	H4C3	GTF2IRD1	OCLN	SLC25A22	TENT5A	G6PC3	GNS	SHOC2	MRAS	BCL11B	IFT80	TMEM94	GLIS3	GNAO1	MAMLD1	ATP1A2	DGCR6	GZF1	KRT1	GTF2H5	GRIN2B	SLC5A5	MTHFR	RAB23	BCL7B	MEIS2	SEC31A	TMEM70	IFT81	TRIM8	ELMO2	NCF1	CTNNB1	SUZ12	CANT1	CRKL	EFEMP2	MPLKIP	BRF1	EOGT	EN1	DLK1	ARX	STS	DYRK1A	TXNL4A	EED	NAT8L	ARPC4	RFC2	FANCD2	SLC35D1	DDX6	TBL2	SMAD4	TMCO1	PORCN	AMHR2	TGFB3	CHUK	CDH11	SMAD2	GTF2I	GLRA1	DYNC2I2	FANCI	BRAT1	TUBB	BMPER	NECTIN1	PROP1	TFE3	CCBE1	TTC7A	MAPK1	STRA6	TMEM67	KCNQ1	XRCC2	MAF	STX1A	WDR19	KCNA1	DNAJC30	ERCC3	SLC10A7	FKBP14	ESS2	DGCR2	SCN1B	ATRX	COL5A2	BCR	ATP6V1E1	NIPBL	RIPK4	LHX4	PTCH1	SNIP1	YWHAE	HIRA	BSCL2	PPP2CA	IRF6	PLAG1	INSR	SETBP1	PLD1	PPP2R1A	SOS2	SKIC2	TARS1	DACT1	WASHC5	ARVCF	ADAMTSL2	CLCN4	FOCAD	PYCR1	PUF60	CHST3	TOR1A	TMEM216	GDF11	SLC35C1	SPRED2	KCNJ8	ZBTB7A	DNMT3B	FANCF	HDAC4	ZMPSTE24	CARS1	BUD23	NFIX	MMP2	SF3B4	RASA2	IRX5	RAB3GAP2	PLOD2	ERCC2	SEMA5A	PPP1R12A	RNF113A	CWC27	GJA1	AGPAT2	GRIP1	HESX1	CHST14	FANCM	SLX4	BCOR	POLR2A	TTC26	KCNJ11	GTF2IRD2	LIMK1	FANCL	USP9X	MED13L	PPP2R3C	SERPINH1	ALG9	GRIN1	TMEM270	RNF2	NEUROD2	GPHN	SIN3A	JMJD1C	RIPPLY2	GALNS	NSDHL	B3GAT3	FANCE	GAD1	FANCG	MED25	OFD1	PIGS	EFNB1	HOXD13	ADNP	RPS6KA3	RAD51	FIBP	TBCK	UFD1	PNKP
HP_FUNCTIONAL_MOTOR_DEFICIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FUNCTIONAL_MOTOR_DEFICIT	STIM1	RASA1	TFG	SMARCE1	FKRP	NACC1	MYOT	VCP	CYP27B1	CHRND	MTMR14	PI4KA	EEF1A2	CDKL5	POMT1	DNM1	HTT	LRP12	MFN2	LRP4	GAN	GABRA5	GBF1	FKTN	CACNA2D1	CDK19	RNASEH2C	OPA1	SPG11	NDUFB11	TPM2	NKX6-2	RTN2	MORC2	SGCG	PLP1	ATL1	BRCC3	JAK2	RRM2B	SPTLC1	VMA21	SH3TC2	AGK	ASAH1	ATP2B3	SORD	DCC	SMO	PDE10A	NTRK2	TBC1D23	PUS3	CWF19L1	FLNC	ERCC4	COL6A1	AIP	TPP1	CASQ1	ACTL6B	LRRK2	POLG	SYT2	COQ2	RNASEH2B	SGCD	TBCE	BIN1	MYH7	MUSK	KBTBD13	FLRT1	GFPT1	NPR3	KPNA3	HK1	CDH23	REEP1	CACNA1A	DYSF	COL6A2	CPT1C	ERLIN1	ATP13A2	NEFL	GLE1	TOR1AIP1	WARS2	YWHAG	FDX2	ORAI1	BAP1	GALC	ERCC8	SCYL1	MYL2	BVES	MGME1	ACOX1	PIK3CA	WARS1	RYR1	CYP27A1	CHRNE	ABHD5	HNRNPK	DMD	MECP2	NF2	COL12A1	CAPN3	PIK3R5	DYM	DOK7	KLHL41	TTN	TET2	ANO5	PMP22	COL6A3	MYPN	EIF2S3	FHL1	SMC1A	GOSR2	SLC30A9	HPCA	LMNB1	PEX2	HACD1	EPHB4	DAB1	CHCHD10	MRE11	NOP56	BICD2	MPL	PLEC	ACTA1	DYNC1H1	GJB1	ERCC6	PGAP1	BSCL2	VWA1	GABRA2	GYG1	LAMA2	NOL3	CYP2R1	GBA2	VPS35	SNAP25	DLAT	SLC25A4	NUDT2	MAPT	VAMP1	DES	ARSA	PRF1	EXT2	ISCU	ASPA	ALAD	COASY	FA2H	SMARCB1	AP4B1	SCN3A	COX20	TYMP	KLHL9	TRPV4	TGM6	PANK2	DNAJC13	ARHGEF2	MYO1H	CHRNA1	CRYAB	TBK1	VPS13D	SGCB	PSAP	SLC25A1	CHAT	SMS	AOPEP	LIG3	LPIN1	PNPLA2	RAPSN	GIGYF2	HSPB3	DAG1	TRAF3	COLQ	TPK1	SPEG	GMPPB	GJC2	LSM11	MTOR	SELENON	AARS1	MATN3	TK2	GPT2	FGF14	ALS2	TRAK1	EIF4G1	MT-TE	HCN1	DARS2	ATP2A1	CDK8	CCDC88C	ADSS1	CHRNB1	SLC30A10	NEB	UBAP1	TIA1	MICU1	SDHAF1	TRAF7	WASHC5	NTNG1	MARS1	SLC19A3	SLC25A19	PKP1	TPM3	NTRK1	OCA2	CCN6	MARCHF6	NKX2-1	ARSI	SURF1	ATP6V1A	ERCC1	SLC13A5	C19orf12	DHTKD1	ITGA7	ATP7B	AGRN	EXT1	COL13A1	CAPN1	TWNK	SDHD	AP4E1	DNM2	ARV1	GBA1	HADHA	CELF2	SIGMAR1	TRAPPC11	STUB1	FZR1	SYNJ1	UNC93B1	GRM1	RSPRY1	VDR	EIF2AK3	GDAP1	UNC13D	MAP3K20	ADCY5	SPART	RPL10	GDAP2	CFL2	SCN8A	SACS	MEGF10	NECAP1	PRKAR1A	CACNA1B	CSF1R	RNU7-1	MT-ATP6	MT-CO3	FGF13	SETX	SLC12A6	PMP2	MSTO1	TTBK2	ATP1A3	ARG1	SYNGAP1	KCNC3	AP3B2	CNKSR2	NEFH	SLC18A3	TDP2	COX7B	DHDDS	BAG3	PRX	NDUFS8	HCCS	WDR62	FBXO38	POLR3B	GNS	AKT3	ADAR	NTN1	DNM1L	MTPAP	DNA2	STXBP2	MFF	NUP62	FGF12	FTL	PEX1	SLC5A7	AK9	PDGFB	NFE2L2	SPAST	VPS13A	KY	SBF2	TICAM1	SGCA	MIEF2	CRPPA	MPZ	RNU12	ALG14	SPG21	ABCC8	GRIN2A	SLC38A3	GABBR2	FKBP14	ABCD1	RAB11B	CCDC78	AKT1	FUS	PPP3CA	SZT2	RAD51	DDX6	POLG2	HACE1	POMT2	PDK3	DNAJB6	TNPO3	GABRB2	GLRA1	ATP1A2	GPAA1	TMEM251	PARS2	POMGNT1	UBE3A	TREX1	HSPB1	KCNA2	MYO9A	GTPBP3	FAR1	CIZ1	RARS1	GAA	NOTCH2NLC	SCO2	ALG2	SNCA	KIF1C	RNASEH2A	SMG9	STRADA	TERT	TLR3	IBA57	KLC2	SDHB	PEX6	TRMT5	DALRD3	LIPE	POMK	AP4M1	MTRFR	ELOVL5	YARS1	KCND3	GIPC1	POPDC3	SCN4A	ATP13A3	B4GALNT1	NUBPL	DDHD1	SLC7A6OS	HERC1	STX11	PLEKHG5	WWOX	INTS1	SELENOI	PYROXD1	GABRG2	DPAGT1	GRID2	KCNB1	PRNP	CLTC	FIG4	PYCR2	LDHA	CALR	MEN1	LAMB2	JPH3	ARL6IP1	MYF6	SUFU	HINT1	GRIN2D	SDHA	USP9X	IFIH1	SLC2A3	WDR48	ATP6AP2	SQSTM1	CHP1	MATR3	PEX16	SAMHD1	TCAP	ATP5MC3	HADHB	FUZ	CYFIP2	GPHN	TAF1	KCNJ10	RNASEH1	SLC34A3	UBA5	NUS1	CLN8	MED25	TGFB1	AP4S1	SLC1A2	DNAL4	LRIF1	TMEM126B	MT-CO1
HP_ABNORMAL_MUSCLE_FIBER_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MUSCLE_FIBER_MORPHOLOGY	STIM1	CHCHD10	MT-ND4	MYOT	VCP	MTMR14	POMT1	MT-ND6	LRP12	DPM3	MYL2	ACTA1	LRP4	FKTN	CHRNA1	MT-ND1	SPG11	TPM2	MT-TC	PLOD1	RYR1	LMOD3	MTM1	SGCG	UBA1	RRM2B	MT-TL1	FHL1	CNBP	DMD	FLNC	DYSF	COL6A1	CFL2	HNRNPA1	MT-TN	PNPLA2	POLG	GYG1	MT-TK	COL6A2	MT-CO1	CHRND	JAG2	BIN1	MYH7	MUSK	KBTBD13	GFPT1	REEP1	CARS2	LARGE1	NEFL	FKRP	POMT2	TOR1AIP1	GIPC1	EARS2	SPTLC1	TOMM40	CHAT	LMNA	MT-ND5	GMPPB	BVES	PHKA1	MGME1	LDB3	HNRNPA2B1	CHRNE	HNRNPK	POMGNT1	MT-ATP6	COL12A1	KLHL41	TTN	HNRNPDL	MT-TS2	MT-TQ	MT-TW	ANO5	COL6A3	MYPN	NEK9	AIFM1	HACD1	DYNC1H1	DAG1	MT-TE	MT-TI	LAMA2	CAVIN1	CRPPA	STAC3	MYH14	SMN1	MYL1	DHX16	SLC25A4	ADSS1	SQSTM1	TNNT1	SPTBN4	TRIP4	ISCU	COQ2	CAV3	TYMP	OPA1	ABCA7	SELENON	CRYAB	ITGA7	SGCB	SLC25A1	SLC25A32	KCNJ18	LIG3	KCNE3	LPIN1	COLQ	SPEG	TWNK	MT-TV	SYNE1	TK2	SCN4A	MT-TH	CHRNB1	TPM3	GGPS1	SORL1	NEB	TIA1	DPAGT1	MYH2	ALS2	MLIP	DGUOK	MT-TF	SIL1	COL13A1	TREM2	SDHA	MT-TP	DNM2	SIGMAR1	CASQ1	SYT2	KCNA1	ASCC1	SLC5A6	EMD	TRMU	FXR1	KLHL40	MAP3K20	GNE	MATR3	POLRMT	TMEM43	MT-CYB	TNXB	CAPN3	MEGF10	MT-CO3	TRIM32	SLC12A6	SYNE2	MSTO1	SGCA	APP	AGRN	PNPT1	NEFH	AGTPBP1	NDUFS4	PABPN1	AARS2	CLCN6	SLC5A7	BCS1L	AK9	HEXB	VPS13A	KY	MIEF2	NDUFA4	VAMP1	CCDC78	SCO2	SARS2	FUS	GARS1	PPARG	ALG2	MT-RNR1	TRPV4	DNAJB6	TNPO3	NOTCH2NLC	IFIH1	DOK7	LYRM4	SLC25A12	SLC25A26	PSEN1	MYO9A	TRAPPC11	CACNA1S	FKBP14	MT-ND2	PSEN2	COQ5	SLC18A3	RILPL1	ACTN2	PLEC	CPT2	SUCLG1	MYO18B	SPG7	ALDOA	MT-TL2	ORAI1	POPDC3	ALG14	NUBPL	SMPX	MT-ATP8	GLI3	SNAP25	GFER	PYROXD1	CCDC174	MICU1	POMK	LAMB2	MYF6	MT-CO2	NDUFB3	HPDL	ANXA11	RAPSN	MT-ND3	TCAP	LMOD2	EMILIN1	POLG2	JAG1	LRIF1	UNC45B	GABRA3
HP_INVOLUNTARY_MOVEMENTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INVOLUNTARY_MOVEMENTS	MT-ND4	SDHB	CACNA1E	VPS37D	NEMF	ADCY5	PI4KA	SPATA5	HSPB1	CPLANE1	NEFH	MFN2	SLC2A1	GABRA5	CACNB4	RNASEH2C	NEFL	SPG11	RTN2	MT-CO3	ADAR	ALDH18A1	FMR1	PGAP1	DPYSL5	NKX6-2	FBXW11	SH3TC2	ITM2B	CHD1	HCFC1	ASAH1	ATP2B3	KLC2	PPT1	TMEM67	PDE10A	MECP2	TPP1	MAX	STAMBP	LARP7	HNRNPR	UBA1	PDGFB	COQ2	GUF1	RNASEH2B	POLR3A	TOPORS	VPS4A	LMNB1	EXOSC9	CARS2	CHMP2B	PIGN	PRRT2	RUSC2	MECR	WARS2	YWHAG	KCTD17	NDUFA13	CABP4	ERCC8	GLRX5	PGM3	ATP6AP2	TCF20	GNAS	FKBP6	FLII	PIK3CA	MT-ND6	ITPR1	KMT2A	POMGNT1	NMNAT1	NAGA	ANO10	MT-ATP6	MKS1	CHKA	UBA5	FBXO7	CHD8	SOX5	CYP7B1	RAI1	GNB1	SMC1A	POU4F1	GRIA4	PEX2	MOCS1	NOP56	BICD2	GABRA2	SCN1B	GNA11	SLC1A3	EXOSC3	COL6A3	SOX10	SMN1	MT-ND5	SLC25A4	TANGO2	SEPSECS	TNFSF11	OPA3	CAMTA1	NGLY1	GUCY2D	CUL4B	VHL	GABRD	VAMP1	MAPT	TTPA	PLA2G6	TOR1A	SMARCB1	SCN3A	COX20	CHAMP1	DNAJC13	ABCA7	FOXG1	ATP1A3	SYT1	TCF4	TSEN2	THOC2	SLC9A6	SEMA6B	CACNA1G	KCNJ18	JRK	GABRB3	SURF1	CDKL5	APOE	KIF1B	TPK1	GJC2	PHACTR1	MT-ND1	NR4A2	TNPO2	PURA	WDR45	ATXN1	SCN8A	HEXB	FGF14	PSEN1	HCN1	SQSTM1	PDK3	MT-CYB	VCP	SORL1	RPGRIP1L	UBAP1	DARS2	TMEM237	CTSF	CRAT	SLC19A3	PGAP3	EIF4H	ARX	TTI2	SNCA	NKX2-1	GCH1	TCTN2	CLN6	RAB3GAP2	AUH	DYRK1A	PTS	MT-TF	PIGO	PITRM1	POLR3K	TREM2	PPP2R2B	AP4E1	ARV1	SPART	KIF5A	PARK7	YEATS2	AMPD2	AFF2	MED23	TRAPPC11	TRIO	STUB1	VPS13C	FZR1	SYNJ1	SLC25A42	BCORL1	PNKD	GALT	WDR11	KCNA1	STARD7	FXR1	UBE3A	CD28	SLC33A1	KATNIP	KAT5	GLRB	ACP5	MMACHC	SACS	MEGF10	PRDX3	NECAP1	C19orf12	KMT5B	SIK1	RYR1	EGR2	OCRL	SETX	CTBP1	METTL27	INPP5E	SYNGAP1	SATB1	ARMC9	AIFM1	TCTN3	ADAMTS13	UGT1A1	NDUFS4	NOTCH2NLC	MARS1	SLC17A5	SLC25A22	SLC18A2	SHMT2	TMEM231	GABRG2	GCK	NARS1	MTPAP	DNM1	GLUD2	UQCRC1	FGF12	GNAO1	GCDH	LEMD2	GRIA3	UQCRQ	FRRS1L	GRIN2B	HIBCH	VPS37A	CP	GGT1	CHMP1A	SLC6A17	MPZ	GFAP	TSHR	GCSH	GON7	ABCC8	SFXN4	NCF1	TKT	ABCD1	SLC6A9	PIGV	SCARB2	FUS	TRAPPC6B	RAC1	TFG	SNORD118	TMCO1	TTC19	GM2A	BRAT1	ERCC6	TAOK1	YRDC	TOE1	SDHD	CNTN2	MOCS2	MAPK1	CDH23	ATP1A2	TIMM50	NUP62	RORB	ERCC3	SH2B1	PSEN2	ATRX	KCNA2	NAXE	SCO2	NOVA2	SNRPN	GIGYF2	RNASEH2A	PRNP	VPS53	ERCC2	CEP85L	PTCHD1	AASS	MYO5A	KPTN	TIMMDC1	ZFYVE26	GLRA1	DDOST	MT-CO1	DNAJC30	CACNA1C	SLC1A4	TOGARAM1	ELP2	TARDBP	HSD17B10	CYB5A	MED17	MRPL12	CLCN4	MT-TP	AP1S2	SCN1A	LAMA1	FRMD5	CARS1	HNRNPA1	ANO3	FARS2	TSC1	CTC1	WWOX	CERT1	CEP104	NTRK2	NEXMIF	UFC1	KCNB1	SCN2A	CHD3	LNPK	GRIK2	GJB1	RNF113A	JPH3	STXBP1	TBK1	UBE4B	MT-TW	PIGW	PRPH	HYCC1	CRB1	TTR	KCNN2	SAMHD1	DPAGT1	BEAN1	ABCB4	CYFIP2	PLCB1	TSPOAP1	GPHN	ATP8B1	TK2	PMP22	AP4S1	FAM149B1	RAPGEF2	JAG1	ADPRS	AFG3L2	PRDM8	PSAP	CHCHD2	NDUFA9	WDR4	MEF2C	SLC20A2	NSD2	EIF4G1	HTT	PC	DEAF1	UGDH	MT-ND2	KCNT1	DAB1	SAMD9L	CASZ1	CACNA2D1	KIAA0753	NLGN3	EXTL3	COQ8A	PRKN	PLP1	CACNA1B	SLC25A15	TRIM8	MT-TL1	CBY1	PSAT1	SMO	ATP13A2	CWF19L1	PCBD1	ACTL6B	CELF2	TAF1	LRRK2	XPR1	GRIN1	DPM1	SGCE	KPNA3	PMPCA	GRN	SLC6A8	NDP	YY1	POU3F3	KCTD7	VAMP2	HYLS1	TRAPPC12	SCYL1	PRDM16	KNSTRN	MAN1B1	SCN9A	CCNF	CEP41	FOXP1	CTNND2	LRPPRC	MME	ANOS1	FRMPD4	GAMT	MT-TS2	CHCHD10	CTDP1	NEU1	HMGCL	CC2D2A	MT-TQ	FOXRED1	NOL3	RET	PDE2A	ATAD1	SC5D	MYH14	CIC	KCNJ10	SPTBN1	ADRA2B	SLC16A2	ADH1C	NACC1	SLC6A1	TNNT1	SPTBN4	PRUNE1	LYST	CACNA1H	MORC2	TBC1D24	RTTN	CCDC88C	FA2H	GPR88	AP4B1	HERC2	SLC6A5	UROC1	CLPB	HTRA2	GSS	OFD1	ABCB7	ATP6V0A1	VPS13D	PGK1	TSPYL1	PNPLA2	SMN2	CLCN7	NDUFAF3	SLITRK1	PANK2	MT-TV	PIGT	AARS1	MMP23B	TRAK1	TCTN1	CYB5R3	ELN	DNAJC6	TNRC6A	AMACR	POLA1	HMBS	APTX	HSPD1	ERLIN2	WASHC5	CASK	SNX10	ALS2	NAA10	NAPB	NFASC	TGM6	PTCD3	SPTBN2	EXOSC8	MBD5	PLPBP	PUF60	SIGMAR1	TRAPPC9	PROKR2	MMUT	TH	PRPS1	TSEN34	PNPO	COG8	KCNQ3	AMT	PNP	HIKESHI	CLN8	ARSA	CLCN3	RFC1	GLYCTK	ADA2	CTLA4	AFF3	VRK1	SLC44A1	PRKCG	CHRNA4	SPEN	MT-TT	AHI1	TNFRSF1B	GBA1	HPRT1	SKI	KCNC3	AP3B2	STX16	PNPT1	CNKSR2	ACO2	AGTPBP1	SPR	NDE1	PODXL	KCNC1	NDUFAF5	PMM2	KCNQ2	MMAA	VPS13A	DRD3	PINK1	PRODH	SNCAIP	GBA2	EEF1A2	CHRNB2	ELOVL1	RNU12	TMEM70	SLC38A3	GRIA1	GABBR2	GTPBP2	UBTF	KCNMA1	EXT2	MPLKIP	RAB11B	TBCD	LUZP1	PIK3CD	ATG7	DDC	NAT8L	VWA3B	ARPC4	NADK2	FLVCR1	NF1	SLC25A13	ARL13B	SLC5A7	TUBB3	GTF2I	GABRB2	LMAN2L	GPAA1	SLC25A12	ATN1	ZMYM2	ATCAY	TENM4	ATXN8OS	VPS41	MAOA	CDC42BPB	CERS1	TBP	RERE	BCR	COQ5	TSFM	CAV1	SLC13A5	PIK3R5	TSEN15	DALRD3	SUCLG1	MTFMT	AP4M1	HESX1	MADD	TARS1	HS6ST1	ERLIN1	IRF2BPL	NDUFS2	DNM1L	RFT1	ATXN10	HDAC4	ASH1L	DHDDS	TMEM106B	HNRNPH2	TNR	CSTB	CYP27A1	TANC2	XPA	CACNA1D	GRIN2D	CACNA1A	GTF2IRD2	POLR3B	LIMK1	IFIH1	DCAF17	DCTN1	TMEM270	SCN4A	SMPD1	MRPS34	TECR	KCNK9	EMILIN1	NUTM2B-AS1	POLG2	TSEN54	PRKRA	POMT2	GNAI1	SHQ1	RAB39B	MT-ND4L	B9D1	DNAJC19	PIGL	GABRA3	EP300	ACBD5	DEPDC5	NLGN4X	HECW2	PDHA1	ZBTB20	LRP12	GRIA2	PDYN	ST3GAL3	PIGY	OXR1	OPA1	ASXL3	LMNB2	DNMT3A	SETD2	EHMT1	TMEM240	NIPA1	CAMK2A	NPC2	EPM2A	SPTLC1	SLC25A46	ZEB2	CCDC141	ATP7B	SLC39A4	SPOP	XPNPEP3	CSPP1	SERPINI1	SLC25A21	POLG	ZBTB18	AP2M1	DUSP6	GALC	TMEM218	ERGIC1	CA8	PIGQ	MACF1	PPP2R5D	CLTC	GMPPB	SOD1	C9orf72	HNRNPA2B1	PRX	EFHC1	HLA-DQB1	ZNF526	NDNF	EBF3	SPRY4	CEP126	ABHD12	GOSR2	SLC30A9	SUFU	HPCA	MINPP1	LIG3	MRE11	PNPLA6	SDHA	POMT1	PTEN	COA7	DNMT1	VPS35	LETM1	NUP214	SLC52A3	TLR7	IREB2	DHX30	CHD2	ADNP	GRM7	DHFR	SLC25A11	EPAS1	OPTN	TWNK	CNPY3	NAA15	LSM11	MTOR	GPT2	CCT5	BAZ1B	SLC52A2	MICU1	FEZF1	RBL2	MARCHF6	CRH	FGF13	ATP6V1A	GJA8	GABRA1	PDGFRB	DNAJC5	PRICKLE1	DLL1	PRDX1	HINT1	LIAS	ATXN2	FLCN	HNRNPU	ABCB6	MGAT2	TYROBP	PAH	KCNK4	ITPA	ATP5MK	QRICH1	FGF8	CILK1	RAB18	TIMM8A	SEMA3A	DCC	TBR1	APP	PITX3	KMT2B	MAG	MT-TH	FGFRL1	NDUFS8	FBXO38	MICOS13	RAB7A	WDR81	OSTM1	ERCC5	IRF4	FTL	IFNG	DLAT	GTF2H5	CLN5	BCL7B	CREBBP	ZFYVE27	CRKL	AP5Z1	PFN1	PPP3CA	MYBPC1	ADGRV1	SLC46A1	OPHN1	POLR1C	ELOVL4	NHLRC1	CCDC88A	FLRT3	ATP7A	CHRNA2	VAPB	MSTO1	CLCN2	BICRA	CIZ1	GLDC	RARS1	ST3GAL5	KIF1C	DTYMK	RILPL1	TERT	REEP1	FKRP	DYSF	PRKCZ	TMEM222	B9D2	SDHC	BUD23	IFRD1	PEX10	POU3F4	PGAP2	SELENOI	MT-TK	TMEM63A	NPHP1	SLC9A1	FAR1	GJA5	POMK	SCYL2	LEMD3	PIGA	DHPS	ATP11A	HNF4A	TMEM216	SYT2	PEX16	RPE65	MT-ND3	PPP1R15B	CD40LG	SAMD12	NTNG2	NEUROD2	TCIRG1	CAPN1	PUM1	RNASET2	SUCLA2	ZSWIM6	NONO	UBQLN2	THAP1	AKT1	PDZD8	SMARCE1	FGF17	VLDLR	FBXL4	KCND3	MYL2	CDK19	FBXO28	STX1B	ATL1	SYNE1	RRM2B	HSPG2	CEP152	CASR	LGI3	FH	TUBB4A	NDUFB8	TBC1D23	CACNA2D2	MEN1	ERCC4	GRM1	KAT6A	SUOX	NDRG1	PHIP	GFM2	MLXIPL	SLC30A10	ADGRL1	TOMM40	GLA	BAP1	MYOT	XK	RMND1	DMXL2	UCHL1	GTF2E2	APC2	KIF7	NF2	PDPN	GRIN2A	HDC	GATAD2B	CPLX1	ATP6V1B2	IMPDH2	CLIP2	USP8	LRSAM1	VWA1	DPF2	MT-TI	PDE6D	PRKAR1B	ALKBH8	NAA20	TMEM127	GNB2	NR1H4	MDH2	EPRS1	POGZ	MYORG	NSD1	SMS	MAPK10	CEP120	ZNF142	REEP2	SLC6A3	ATM	TRAF7	CLN3	NTNG1	KCNC2	WDR26	OCA2	IL17RD	IQSEC2	HUWE1	COL25A1	SPTAN1	BSCL2	NFU1	RLIM	PIGP	ATXN3	ZNHIT3	KIAA0586	PET100	VARS1	SHANK3	DLST	TXN2	HSD17B4	PHGDH	FXN	RPL10	TBX1	KIF1A	NDUFV1	RNU7-1	RHOBTB2	PMP2	THG1L	PIBF1	WFS1	PSMC1	ADSL	TAT	RORA	GTF2IRD1	AKT3	PTH	KDM1A	SMARCA2	NFE2L2	SPAST	ABCB11	SBF2	NAGS	CNTNAP2	NDUFA4	SLC25A10	SCP2	PCDH19	SLC39A14	CTH	SZT2	KIF5C	RFC2	DDX6	TBL2	PUS7	EMC10	MRM2	CUX2	TACR3	KCNAB2	TFE3	PARS2	QDPR	TREX1	NDUFA1	AR	NUS1	PRORP	STX1A	AUTS2	PROK2	SLC12A6	EIF2AK2	CHD7	SMG9	DENND5A	ACAT2	H4C5	HMGA2	TNFAIP3	DOCK7	PEX6	TRMT5	ZFR	MTRFR	ELOVL5	TPI1	PYCR1	BOLA3	CACNA1S	SLC7A6OS	KIF15	NHLRC2	ATXN7	ARL3	NR2F1	KYNU	MT-CO2	FGFR1	DRD2	TSC2	SLC2A3	ANXA11	AARS2	ADGRG1	ABHD16A	BRAF	COX4I1	SLC1A2	NAXD	ARID2	SDHAF2	PNKP
HP_ABNORMAL_ENDOCARDIUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ENDOCARDIUM_MORPHOLOGY	IDUA	MYL3	DNAJC30	BCL7B	MLXIPL	TAFAZZIN	GJA5	VPS37D	NCF1	IL10	CCR1	ABCC6	TRAF3IP2	EIF4H	ALPK3	HLA-B	PRKAR1A	IFNGR1	IL17RA	GTF2IRD2	LIMK1	TLR4	IL12B	LDB3	MLX	FKBP6	MCM10	ACTN2	C4A	METTL27	RFC2	KLRC4	ENPP1	BRAF	IL12A	TBL2	STAT4	TMEM270	IL23R	GLA	CLEC7A	SLC22A5	RAF1	GTF2I	MEFV	GTF2IRD1	MYH7	UBAC2	IL17F	BUD23	CLIP2	IL17RC	CSRP3	PTPN11	PDGFRA	IL12A-AS1	STX1A	BAZ1B	GBA1	VCL	FAS	ERAP1	SP110	ELN
HP_ABNORMAL_ANATOMIC_LOCATION_OF_THE_HEART	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ANATOMIC_LOCATION_OF_THE_HEART	ZMYND10	CSPP1	CFAP52	KATNIP	DNAJB13	DNAH5	SH2B1	DNAH1	DNAL1	MSX1	SLC38A3	LRRC56	PAK2	RPGRIP1	OTX2	CCDC103	SRCAP	TXNDC15	GAS8	LMNA	B9D2	COL18A1	DNAAF4	OFD1	RSPH3	TCTN2	IRF6	TCTN3	CCDC40	STK36	TMEM107	ODAD4	TOGARAM1	ODAD2	AHI1	DNAAF11	CFAP300	EVC2	MEGF8	PIBF1	DNAAF6	ARMC9	CRELD1	TMEM67	MYRF	CBY1	CCDC65	MKS1	DNAAF3	CFAP45	ARL2BP	ZIC3	CEP120	TTC8	CCDC39	SPAG1	TGDS	ZMPSTE24	GLI1	TMEM237	MMP21	DNAAF1	ODAD3	GATA4	FOXJ1	NME8	PKD1L1	CEP104	TCTN1	CFAP53	PIEZO2	DNAH11	WT1	ODAD1	TP63	DNAI2	TMEM231	DNAH9	CFC1	DNAAF2	ARL3	LMBRD1	TTC12	ACVR2B	FANCB	UBR1	RPGR	CEP290	INPP5E	DNAI1	BCOR	TTC26	HYLS1	TMEM218	CFAP221	NEK8	RSPH4A	HES7	NEK10	HYDIN	SPEF2	CFAP298	NPHP3	LZTFL1	RSPH1	TMEM216	SLC19A2	ZNF423	CPLANE1	PRRX1	GDF1	ARL13B	MCIDAS	CCNO	RSPH9	CEP41	GAS2L2	NECTIN1	DYNC2LI1	DNAAF5	B9D1	CIROP	SUFU	MNS1	ANKS6	SMAD2	CC2D2A	KIAA0586	CDH2	PQBP1	DRC1	NODAL	EVC	PRKACA	INVS	RPGRIP1L	PRKACB	PKD2
HP_VENTRICULAR_ARRHYTHMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENTRICULAR_ARRHYTHMIA	MT-ND4	CDH2	TBX20	RHD	PLXND1	CACNA1S	TRDN	LMNA	NUP155	TSC1	KCNJ5	SDHD	KIT	PKP2	TMEM43	MT-CYB	MT-ND6	MYOZ2	MT-ND2	CITED2	CPT2	ZNF699	CAV3	AKAP9	LDB3	SLC25A20	DTNA	EMD	MT-TC	CALM1	MAX	SYNE2	ECE1	TECRL	TCAP	KCNH2	TNNI3	RRM2B	JUP	RET	MT-CO3	MYRF	MT-TH	SCN10A	SDHB	CACNA1C	MT-TL1	FHL1	SCN1B	SCN3B	CPOX	CNBP	TET2	HLA-DRB1	SCN5A	UCP2	CALM3	TWNK	BMP2	MT-CO1	MT-ND1	SLC19A2	ATP1A3	HNF1A	PRKAG2	POLG	ACADVL	ACTC1	CACNB2	KCNJ2	KCNE3	RYR1	GYG1	KCNQ1	JAG2	HFE	GJA5	KCNE1	RYR2	TLL1	CALM2	CSF2RB	NDUFB11	MYH7	DST	JPH2	ABCC8	PPOX	TOR1AIP1	MT-TV	DHCR7	CACNA2D1	ABCA3	TNNI3K	MT-ND5	FBP1	KCNE5	KCNE2	NKX2-5	FNIP1	ACTN2	NKX2-6	SCN4B	MT-TK	PYGM	KIF1B	BAG5	GPD1L	MT-TS2	MT-TW	SCNN1A	ABCC9	CASQ2	CDH23	GNAI2	MT-TQ	PRORP	GATA4	GTPBP3	CAVIN1	HCN4	SRY	HCCS	VHL	SPRED1	MYL3	GATA6	SLC25A4	TANGO2	KCNJ11	CSRP3	GAA	HMBS	SLC12A3	CSF2RA	TNNC1	DSG2	VPS33A	FMO3	DNAJC30	RHAG	DSP	SRSF2	RAF1	SCN2B	NOS1AP	DOHH	TTN	RHCE	MTFMT	SCN9A	CTNNA3	CLCNKB	TSHR	SEMA3A	DNMT3A	FLAD1	KCNJ18	IFNG	NDUFS2	MT-TF	GNB5	NPPA	DPP6	NFIX	MYL2	MYH6	CRYAB	SLMAP	SYNE1	CUBN	SLC4A3	MYBPC3	TRPM4	RANGRF	PLN	KYNU	DSC2	MT-CO2	COX7B	KCND3	NAA10	TPM1	LAMP2	HNF4A	AMN	TGFB3	TMEM127	ALG10B	ANK2	MT-ATP6	LMOD2	SDHC	SNTA1	TBX5	POLG2	PGM1	ELP1	SFTPB	SFTPC	MT-ND4L	KCNJ8	BTNL2	MRPS14	NAXD	ASXL1	GABRA3	TSC2
HP_VENTRICULAR_PREEXCITATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENTRICULAR_PREEXCITATION	MT-TQ	MT-ND4	MT-ND5	PRKAG2	TSC1	GAA	MT-CYB	MT-ND6	MT-ND2	MT-TV	MT-CO2	BMP2	LAMP2	MT-CO1	FNIP1	DNAJC30	MT-TC	MT-ND1	MT-TF	TCAP	MT-TK	MT-TL1	MT-CO3	TNNI3	MTFMT	MT-ATP6	MT-TH	IFNG	NDUFS2	MT-TS2	MT-TW	MT-ND4L	ATP1A3	MRPS14	GTPBP3	JAG2	TSC2
HP_ABNORMAL_MACROPHAGE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MACROPHAGE_MORPHOLOGY	PIK3CG	UNC13D	ASAH1	XIAP	RAB27A	CD27	PRTN3	STXBP2	SMPD1	NCF1	IFNGR1	LIPA	PRF1	LYST	NPC1	SLC29A3	HLA-DPB1	NCF2	SH2D1A	HAVCR2	ZNFX1	SGCG	DNASE2	NPC2	SLC7A7	GLB1	CYBB	APOE	HLA-DPA1	CYBA	SAMD9L	STX11	NEU1	PTPN22	TLR8	CTLA4
HP_ABNORMAL_RETICULOCYTE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RETICULOCYTE_MORPHOLOGY	SLC4A1	RHD	EPB42	FANCA	CFHR3	PKLR	FAS	EPB41	CFH	IFNG	CFHR1	RPS26	RPL26	FANCD2	RPS19	SEC23B	G6PD	HBB	GATA1	RHAG	RPS24	CPOX	SPTA1	RHCE	ADAMTS13	STEAP3	RPS27	RASGRP1	BCL11A	TSR2	FANCE	ADA2	CDAN1	SPTB	PGK1	KCNN4	PFKM	RPS28	SLC2A1	NHLRC2	RPL35A	UROS	HBG1	FANCC	TERC	RPL15	HBG2	RPS17	PRF1	RPL11	CLCN7	CUBN	RPS15A	RPS29	RPS20	CASK	RPL27	GCLC	PIGA	PRKCD	MYSM1	TCN2	CASP10	SBDS	KLF1	AMN	RPS10	FASLG	GYPC	ANK1	TERT	RPL35	PIEZO1	MTTP	HK1	ABCB6	RPS7	RPL18	CDIN1	ABCG8	RPL31	RPL5
HP_DECREASED_CIRCULATING_ANTIBODY_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_ANTIBODY_LEVEL	UNC13D	IL2RG	EXTL3	ITCH	BLM	TCN2	RASGRP1	TRNT1	TFRC	NFKB1	TNFRSF13C	CD40	DOCK8	TCF3	IRF2BP2	IPO8	RFXAP	RAG1	PIK3CD	CCBE1	ADAMTS3	TIMM8A	FAT4	ATP6AP2	LAMTOR2	HYOU1	IL21	CR2	PIK3R1	RNF113A	DCLRE1C	MTOR	CD79A	BTK	SIK3	TONSL	CNBP	RAC2	RAG2	TNFRSF13B	ZEB2	PMM2	STXBP2	CD247	CARD11	RFXANK	DNMT3B	FLNA	TYMS	GTF2H5	TP53	CD3E	NFE2L2	SH3KBP1	MAGT1	ALG12	HLA-DQB1	CDCA7	IGHM	XIAP	SLC46A1	LRBA	SLC25A13	PLCG2	LAT	NFKB2	ICOS	MPLKIP	SYK	BACH2	RNF168	KNSTRN	FNIP1	FASLG	CIITA	GTF2E2	SKIC3	REL	CD19	CD81	CTNNBL1	HELLS	RNU4ATAC	SAMD9L	CD79B	TTC7A	CD3D	MOGS	SPI1	EPG5	PTEN	CAVIN1	CSNK2A1	TOM1	IL6R	JAK3	ATM	IGKC	PIK3CG	B2M	SPPL2A	ERCC3	IKBKG	RTEL1	AICDA	CD55	MYSM1	PTPRC	IKZF1	BLNK	FAS	CISD2	IL21R	ZBTB24	ADA	RFX5	PRF1	OAS1	CARMIL2	IFIH1	STAT2	PRKCD	NBN	WAS	VPS33A	CASP8	AK2	KRT5	POLE	RBM8A	MS4A1	SKIC2	IVNS1ABP	BCL10	TARS1	CTPS1	IKBKB	ZAP70	SLC35C1	IL6ST	PRIM1	COG6	UNG	CARS1	NHLRC2	STX11	SP110	ITK	SLC39A7	MGAT2	TLR8	SPINK5	SLC7A7	TNFRSF11A	SLC5A6	LRRC8A	CTLA4	RMRP	ZNF341	HLA-DQA1	CCND1	ATP6AP1	ERCC2	RIPK1	CD27	MAN2B1	SON	STAT3	SASH3	PIGT	CASP10	ADA2	SH2D1A	IGHG2	PLVAP	CD40LG	IL2RA	TNFSF12	CXCR4	ARHGEF1	CD3G	IGLL1	NHEJ1	MSN	TRMU	MTHFD1	KRT14	LIG1	SMARCAL1	CD70	RPA1
HP_DECREASED_CIRCULATING_ALDOSTERONE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_ALDOSTERONE_LEVEL	AIRE	NR3C1	CYP11A1	STAR	SCNN1G	HSD11B2	NNT	TXNRD2	SCNN1B	CYP11B1	CYP11B2	MC2R	CYP17A1	AAAS	NR3C2	HSD3B2	NR0B1	MRAP
HP_VAGINAL_FISTULA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VAGINAL_FISTULA	IL10RB	SLC35A2	DYNC2H1	MNX1	TCTN3	FREM1	DYNC2I2	SPINT2	KIF7	SALL4	DDB1	MKKS	DACT1	POLR1B	POLR1C	CAPN15	IFT80	PI4KA	SALL1	DYNC2I1	UBR1	POLR1D	CCNQ	RNU12	TCOF1	LONP1	POR	WDR35	RECQL4	JAK3
HP_INCREASED_BODY_WEIGHT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_BODY_WEIGHT	BBIP1	FSCN2	SMARCE1	FGF17	CTSK	ODC1	VPS37D	POU1F1	PHF21A	RGR	MTMR14	CUL4B	IDH3A	PRPF4	MC4R	DEAF1	ZBTB20	RBMX	DLK1	RIT1	PDSS1	RTL1	CASZ1	TERT	MEGF8	SPG11	CANT1	CEP19	PRPF31	EHMT1	CFH	ZNF365	PIGL	APPL1	SLC7A14	PCARE	MAGEL2	POMC	H6PD	HSPG2	TBC1D2B	SETD2	EYS	CELA2A	GLI3	NPHP1	GP1BB	FHL1	BBS5	SMO	TTC8	MECP2	MEN1	TRAF3IP1	RPS6KA3	CCDC141	RREB1	COL10A1	NKAP	BBS2	REEP6	SMC1A	TAF1	HNF1A	PHIP	DIS3L2	KCNJ11	LARS2	CYP19A1	CFAP418	SH3KBP1	CREBBP	FTO	TMEM67	BLK	MLXIPL	ALMS1	ARMC5	ARL3	KMT2C	P2RY11	MOG	DUSP6	PIGN	IMPG1	MTTP	ABCC8	USP8	ADGRL1	PSMD12	TBX3	RP2	CLRN1	BAP1	LEPR	LMNA	BBS7	CTNNB1	TBX1	PRDM16	TCF20	GNAS	IGF1	FKBP6	AGBL5	ARNT2	CRB1	FLII	MAN1B1	UBE3A	IGFALS	PCNT	SOX3	PRPH2	NF2	BBS9	LHX3	RPE65	PDPN	CHD8	IFT27	NDNF	FOXP1	ANOS1	SPRY4	RAI1	WAC	SETD1A	EIF2S3	PDE4D	CDH23	CLIP2	HDAC8	TNFSF4	USP48	LEP	SPEN	DHDDS	NDN	ALB	NR2E3	MKS1	HCRT	SRY	GNAS-AS1	RAD21	PRKAR1B	PROK2	MRAP2	GCK	SPATA7	SNORD115-1	SPTBN1	TULP1	ERMARD	SNRNP200	KDM6A	GABRD	PWRN1	LAS1L	ADNP	IQSEC2	BDNF	SMARCB1	AP4B1	ARHGEF18	IGF1R	PDE8B	HDAC4	PWAR1	SEMA4A	POGZ	PNPLA6	PDE6A	NEUROD1	PAX6	PRKAR1A	KIDINS220	THOC2	FGFR3	DNMT3A	PIGA	NRL	KCNJ18	MEG3	DDB1	USH2A	ROM1	DYNC2I2	MYT1L	ATRX	PRMT7	CA4	PIGT	SUFU	MMP23B	ZNF513	VPS13B	MAPK8IP3	SYNE1	RP1L1	RLBP1	BLM	SIM1	COMT	BAZ1B	BPTF	AFF4	OCA2	ELN	CCDC28B	PHF6	BEST1	SNRPN	EP300	NDST1	SEC24C	BBS12	SHOX	AKT2	IMPDH1	KLHL7	TRAF7	PRPF8	PRKACA	FEZF1	EIF4H	SHANK3	XYLT1	IL17RD	LZTFL1	GJA8	ATP7B	THRB	INPP5E	AHI1	BRAF	SLC7A7	KIZ	PHKG2	SCAPER	AP4E1	FGFR1	MERTK	DNM2	BBS4	THRA	ZPR1	CRX	CEP290	TOPORS	TRAPPC9	PCSK1	PDE6B	PROKR2	MCM3AP	PTEN	IFT140	MAK	AIP	RAF1	WDR11	POMGNT1	P4HTM	FMR1	BRD4	HNF4A	PNKP	CERKL	SH2B1	RP1	EDNRB	FAM161A	TMEM43	ZNRF3	FGF8	GUCA1B	BBS10	MKRN3	TUB	CTSH	RNPC3	PHKA2	PRPF6	ARL6	XRCC4	EMD	SEMA3A	DCC	SYNE2	CEP164	METTL27	ANK3	RDH12	SKI	SATB1	TP53	IMPG2	WNT4	MTOR	TRHR	ADCY3	MKKS	WT1	INS	GTF2IRD1	SHOC2	SDCCAG8	HSD11B1	UCP2	EXOC6B	PRPF3	RBP3	PAX4	ARL13B	PDE6G	PDGFB	ACADVL	PDX1	MC3R	TRIM32	CPE	IFT74	KIAA1549	RAB23	BCL7B	STEEP1	WDPCP	IFT172	ZNF711	ABCA4	TRIP12	CNTNAP2	NCF1	TRIP4	NEK2	BBS1	FBXO11	CEL	RP9	ABCB4	LUZP1	AKT1	SIN3A	OFD1	SMAD4	YY1	RFC2	DDX6	TBL2	TMCO1	UBE2A	HACE1	CD46	PROM1	CFI	SOS1	GTF2I	ATP10A	TACR3	GHR	CDHR1	TAOK1	KCNAB2	FLRT3	PROP1	TFE3	HERC2	DYRK1B	RNF135	BIN1	PRORP	FXR1	STX1A	HEATR3	CYP7A1	NIN	LRAT	DNAJC30	NPAP1	FIBP	SLC10A7	IFT88	GATA4	CHD7	RERE	STX16	CNGA1	KMT2D	CNGB1	LHX4	PIK3CA	DPYD	HIRA	RYR1	HLA-DQB1	SNORD116-1	PRKCZ	LIPE	HESX1	MTFMT	AP4M1	TOGARAM1	PRCD	KLF11	PDE11A	SOX2	HS6ST1	ARVCF	APOE	CACNA1S	HELLPAR	SMC3	ZBTB7A	SECISBP2	NR3C1	ASH1L	NHLH2	HERC1	BUD23	SETBP1	POU3F4	ARL2BP	USP7	HLA-DRB1	NTRK2	ZNF408	PKDCC	MIA3	SAG	GJA5	OTX2	NSD1	DMPK	MYF6	UBE4B	NIPBL	ABCC9	HGSNAT	GTF2IRD2	LIMK1	RHO	ATP6AP2	CDKN2A	IDH3B	DHX38	TMEM270	COPB1	IGSF1	SOX10	COA3	JMJD1C	PTCH1	PHKB	TMEM218	AP4S1	GNAI1	SLC25A4	RPGR	UNC45B	AHR	UFD1	GABRA3
HP_CACHEXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CACHEXIA	FOXP3	ACADM	AKT1	TRAIP	ERCC5	CALR	WT1	NDP	CUL4B	SCNN1G	ATRIP	LPIN2	GFAP	BMPR1A	SPTLC1	ALS2	GALC	TYMP	PLK4	SPG11	POLG	FUS	ATR	SCNN1A	SCNN1B	MAFB	LMNA	RBBP8	JAK2	UNC80	MECP2	CFTR	NUP85	RRM2B	TGFB1	SLC9A6	ERCC2	PTEN	TET2	LIG3	STUB1	SLC6A8	CNTNAP1	NBN	ERCC4	SIGMAR1	NALCN	TRPV4	PSAP	IRF4	TRIM37	PCNT	MPL	ERCC3	EWSR1	HSPG2	LIPA	CENPE	CENPJ	GBA1	CEP152	SUCLA2
HP_ABNORMAL_VITREOUS_HUMOR_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VITREOUS_HUMOR_MORPHOLOGY	COL9A2	BEST1	LRP5	COL2A1	NDP	PAX6	RS1	BAP1	ATOH7	LOXL3	PAK2	TTR	GNAQ	HLA-A	PRPF8	BCOR	COL18A1	COL11A1	ZNF408	NDUFB11	PROC	ARL3	SF3B1	CTNNB1	FZD4	CRB1	VCAN	LAMB2	CAPN5	NF2	COL9A3	GNA11	PRR12	COX7B	P3H2	TSPAN12	HCCS	NR2E3	COL9A1	RB1	KCNJ13	ARSK	CYSLTR2	ERBB3	SIX3	CRPPA
HP_INCREASED_SKULL_OSSIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_SKULL_OSSIFICATION	HHAT	HGSNAT	NAGLU	RBL2	VCP	CSF1R	OSTM1	SGSH
HP_DECREASED_SKULL_OSSIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SKULL_OSSIFICATION	ALPL	LBR	FAM111A	PHF21A	SEC23A	COL1A1	NOTCH2	TXNDC15	EXT2	IFT43	THPO	COL1A2	P3H1	TAPT1	BMPER	TBCE	RUNX2	TRIP11	FIG4	ZMPSTE24	FGFR2	LMNA	CREB3L1	ALX4	CRTAP	MPL	SLC25A19	INTU	LAMA5	HDAC6	WNT7A	ANTXR1	ALG9	VAC14	SLC25A24	PPIB	COL2A1
HP_ABNORMAL_LYMPHOCYTE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LYMPHOCYTE_MORPHOLOGY	MDM4	FOXP3	DCLRE1B	PNP	IL2RG	EXTL3	CD28	WIPF1	TCN2	RASGRP1	TRNT1	CTLA4	STAT1	KLHDC8B	STK4	DOCK8	LMNB2	IRF2BP2	RFXAP	RAG1	DOCK2	PIK3CD	CYBC1	CCBE1	ADAMTS3	IL7R	XRCC4	RMRP	FAT4	ATP6AP2	POMP	FCHO1	HYOU1	TNFRSF1B	IL21	NSMCE3	TP53	PIK3R1	FOXN1	MYD88	DCLRE1C	GFI1	BTK	CD4	CD3E	GATA2	RAC2	SLC17A5	RAG2	G6PC3	HLA-DRB1	CHD7	IKZF3	BCL11B	PSMB9	TCIRG1	CD247	CARD11	NFKB1	RFXANK	DNMT3B	UNC119	PNPLA2	AP3B1	ZAP70	MAGT1	LRBA	SOCS1	STING1	MYSM1	USP8	PLCG2	LAT	TINF2	ICOS	SYK	LEPR	BACH2	KNSTRN	PGM3	TCF3	FNIP1	XIAP	RNASEH2B	GINS1	SPP1	FASLG	WAS	CD8A	CLN3	REL	RRAS2	SMARCAL1	ACP5	CTNNBL1	AGA	LCK	MCM4	CDH23	TERT	NEU1	FCGR3A	CD79B	TTC7A	CR2	CD3D	USP48	CD19	SPI1	TERC	TNFRSF13B	EPG5	PTEN	TOM1	IL6R	TFR2	JAK3	ATM	ELANE	PIK3CG	B2M	CASP10	FAS	TBX2	STAT4	TLR7	PTPRC	IKZF1	SGPL1	CLPB	ADA	RFX5	SKIC3	ELF4	IFIH1	STAT2	PRKCD	NBN	TNFAIP3	CASP8	FUCA1	IL7	SPRED2	ALG12	SAMD9	CDCA7	SKIC2	IVNS1ABP	BCL10	MYC	CTPS1	FOCAD	IKBKB	BRAF	IL2RB	ZBTB24	LIG4	IL6ST	PRIM1	NR3C1	PI4KA	SP110	HELLS	ITK	SLC39A7	MGAT2	TLR8	SRP54	IGHM	BLM	LCP2	AK2	NCKAP1L	RIPK1	NFKB2	IRAK1	WDR1	ATRX	MAN2B1	SASH3	TNFRSF13C	CORO1A	TPP2	PSMB4	GLB1	TTI2	NLRC4	DEF6	OTULIN	ADA2	SH2D1A	ATP11A	MCM10	MS4A1	ARPC1B	CD81	LYST	IL2RA	TNFSF12	CXCR4	ARHGEF1	CD3G	TET2	IGLL1	RHOH	NRAS	LEP	NHEJ1	MSN	IKBKG	MTHFD1	BTNL2	HLA-DPB1	EIF2AK3	LIG1	CIITA	KRAS	CD70	RPA1	GTF2H5
HP_BONE_MARROW_FOAM_CELLS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BONE_MARROW_FOAM_CELLS	NPC1	SMPD1	LIPA	NEU1	NPC2
HP_DERMAL_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DERMAL_ATROPHY	ITGB4	MGP	COL1A1	CUL4B	COL17A1	COL5A2	ZNRF3	COL3A1	LMNA	PRKAR1A	COL7A1	C1R	FBN1	ERCC2	CARMIL2	TERT	ZMPSTE24	KRT14	LAMA3	PDE8B	NDUFB11	DDB2	AEBP1	TGFBR1	PLOD1	DSE	ENPP1	KRT5	SMAD2	XPA	B4GALT7	TP53	PLEC	PDE11A	COX7B	POLD1	LAMB3	TWIST2	IPO8	BRAF	COL1A2	SLC39A13	HCCS	RECQL4	TGFBR2	NR3C1	POLH	MMP1	ERCC4	COL6A3	RTEL1	TINF2	COL5A1	COL12A1	CTNNB1	ERCC3	MTX2	PARN	FERMT1	SMAD3	ERCC5	LRP1	KLHL24	CHST14	FKBP14	ATRX	LAMC2	PRKACA	USP8	ABCC6	B3GALT6	TGFB2	COL6A2	GNAS	ADA2	CDKN2A	ERCC6	LEMD3	DLG4	XPC	DKC1	CTSC	PORCN	COPB1	ARMC5	SOX18	CDH23	ACD	ANAPC1	TP63	USP48	TFAP2A	USB1	COL6A1	DHCR24	SPEN	GSN	TERC	AIP	C1S
HP_MYELIN_OUTFOLDINGS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYELIN_OUTFOLDINGS	SBF2	NEFL	SOX10	PMP22	MPZ	SBF1	MTMR2
HP_ABNORMALITY_OF_AMINO_ACID_METABOLISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_AMINO_ACID_METABOLISM	TAT	ERCC3	ERCC4	CBS	ERCC5	ERCC2	SLC30A10	AGA
HP_ABNORMAL_CIRCULATING_AROMATIC_AMINO_ACID_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_AROMATIC_AMINO_ACID_CONCENTRATION	QDPR	GCH1	IMPDH2	PCBD1	NR4A2	BCS1L	PTS	SLC25A13	PAH	FAH	HPD	PNPO	KYNU	FTCD	TAT	SPR
HP_ABNORMAL_CIRCULATING_SULFUR_AMINO_ACID_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_SULFUR_AMINO_ACID_CONCENTRATION	MAT1A	MTRR	CBS	MMACHC	MTR	LMBRD1	ABCD4	SLC25A13	GPHN	FAH	PRDX1	CD320	AASS	SLC19A1	ADK	MTHFR	MTHFD1	MMADHC	NFE2L2	AHCY	GNMT	SKIC3
HP_ABNORMALITY_OF_VITAMIN_B_METABOLISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_VITAMIN_B_METABOLISM	HLA-DQB1	MTRR	CCND1	MMACHC	DLAT	MTR	LMBRD1	SLC46A1	RASGRP1	ABCD4	HCFC1	SPTBN1	AMN	CUBN	FTCD	TTR	PRDX1	PRKCD	CD320	OTUD5	FAS	GUCY2C	ZNF699	CASP10	SLC19A1	MMAB	MMAA	GRM7	SUCLA2	ACSF3	SLC52A1	MTHFD1	MMUT	MMADHC	ABCD1	ALDH4A1	SIM1	ALDH6A1	CBLIF	FASLG	SUCLG1	RNF13	HLA-DQA1
HP_ABNORMALITY_OF_VITAMIN_B12_METABOLISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_VITAMIN_B12_METABOLISM	HLA-DQB1	MTRR	CCND1	MMACHC	MTR	LMBRD1	RASGRP1	ABCD4	HCFC1	AMN	CUBN	PRDX1	PRKCD	CD320	FAS	GUCY2C	CASP10	SLC19A1	MMAB	MMAA	GRM7	SUCLA2	ACSF3	MTHFD1	MMUT	MMADHC	ABCD1	ALDH6A1	CBLIF	FASLG	SUCLG1	RNF13	HLA-DQA1
HP_ABNORMAL_GLYCOSPHINGOLIPID_METABOLISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GLYCOSPHINGOLIPID_METABOLISM	HEXB	PSAP	GM2A	ARSA	MCOLN1	GLA
HP_WEAKNESS_OF_MUSCLES_OF_RESPIRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WEAKNESS_OF_MUSCLES_OF_RESPIRATION	KLHL41	COL6A3	MAP3K20	LAMA2	CACNA1S	MYL1	MATR3	MTMR14	CFL2	GAA	HMBS	TMEM43	LRP12	NOTCH2NLC	DES	ACTA1	TNNT1	MORC2	TRIP4	SLC18A3	CHRNA1	RYR1	EMD	TPM2	COL13A1	TTN	LMNA	SYNE2	ERBB4	SELENON	SLC25A4	CRYAB	AGTPBP1	MT-TL2	SLC25A1	TPI1	FHL1	ASAH1	CHAT	KCNJ18	NEB	GIPC1	CPOX	KCNE3	POLG	COLQ	HNRNPA1	RRM2B	ALAD	PLEKHG5	SLC5A7	MFN2	SNAP25	MT-TL1	TK2	UBA1	PPOX	MT-TN	SYNE1	COL12A1	CCDC174	BICD2	COL6A2	BIN1	KBTBD13	GFPT1	SCN4A	MYH7	VCP	TPM3	SURF1	VAMP1	GLE1	COL6A1	MYOT	MYF6	ORAI1	AGRN	TARDBP	SCYL2	ERGIC1	SPG11	MYL2	LMOD3	COL25A1	MGME1	ACOX1	SYT2	ITGA7	HNRNPA2B1	CHRNE	DMD	YARS2	DYM	DOK7	DNM2	TNPO3	PAX7	COA8	CNTN1	RNASEH1	MPZ	MYPN	AIFM1	SUCLA2	HACD1	POMK	MYO9A	GABRA3
HP_ABNORMALITY_OF_BONE_MINERAL_DENSITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_BONE_MINERAL_DENSITY	SLC4A1	SEMA3E	VPS37D	CYP27B1	BMP1	CTCF	HECW2	ZBTB20	LMNA	LBR	SERPINA1	LTBP4	DUSP6	ZNF699	KISS1R	STAT6	NUP107	FAT4	RNU4ATAC	TERT	HFE	GNPTAB	FZD4	LEMD3	CDKN1B	TCIRG1	ASXL1	NSD2	SFRP4	NAGLU	SEC24D	GNAS	CYP17A1	SLC39A8	IL1RN	SRY	NOP10	TAPT1	XYLT2	B4GALT7	TNFRSF11A	CCDC141	ATP7B	AIP	SKI	NFIX	SLC10A1	POLG	TMEM67	LARS2	NAGA	PALB2	POLR3A	SPARC	SP7	SATB2	BRCA2	LRP5	HSD17B4	WNT3A	ANTXR2	USP8	WNK1	TINF2	PRG4	SQSTM1	MAFB	RIN2	WT1	TBXAS1	DKK1	PTH1R	IGF1	FKBP6	SLC12A1	IL12RB1	RUNX2	HSPG2	RNU7-1	FGF17	COG1	COL2A1	MAD2L2	CDC73	NDNF	EDNRA	SLC37A4	SLC39A13	ACP5	HBB	SPRY4	SLC11A1	IL12A	SGSH	RECQL4	TRAF3IP1	GNRHR	CEP164	BRIP1	AEBP1	ANO5	USP48	DHCR24	TBCE	COL1A1	NDN	P4HB	MIF	EXT2	B3GALT6	CAVIN1	GNA11	MAN2B1	DPM2	SLC25A4	GPAA1	TNFSF11	SNORD115-1	NGLY1	FAH	ATP7A	CLPB	PTDSS1	COL1A2	ABCC9	POLR1D	NR0B1	TCOF1	SRP54	MMP14	FARSB	SOST	WDR19	GATA4	GK	UFSP2	PYCR1	SGMS2	SLC26A9	SLC7A7	CTSK	BAZ1B	BMP2	MBTPS2	CCND1	ADCY10	IFT122	OTX2	NOTCH2	DVL1	PRKACA	FEZF1	WRN	EIF4H	MTRR	RBL2	SNX10	HAMP	TMEM53	EFL1	FGF8	ANKH	FERMT3	SLC34A1	FAM111A	UNC80	MAGEL2	PHKG2	IFITM5	SRCAP	CEP290	TGFB1	KIF1A	NSMF	MMP13	HNRNPH1	TGFBR2	PEPD	PLEKHM1	COL5A1	WNT1	GALT	SIM1	PIK3CD	AMER1	WDR11	FANCC	CBS	ERCC6	MGAT2	TYROBP	SNRPN	POLRMT	PRDM5	TRIP11	STAT1	MKRN3	CHD7	NR5A1	STN1	PSMC3IP	POLR1C	MEG3	CSF1R	MRPS22	AVP	SEMA3A	DCC	OCRL	METTL27	GLA	CLCA4	POLD1	TONSL	CTNS	OSTM1	TRPS1	UROS	GLIS3	CPLX1	ALPL	PMM2	LEMD2	BMS1	GTF2H5	DPAGT1	FLNA	BCL7B	GPR35	HSD3B7	SMAD3	NPR2	NCF1	COL7A1	FAM20C	KDELR2	GLI2	TRPV6	FKBP10	USB1	BMP15	POLR3H	ALG3	KRAS	MED12	IFIH1	FANCI	DKC1	PIGG	STX3	MLXIPL	FLRT3	HERC2	CRTAP	CDH23	CDKN2C	HGSNAT	XRCC2	LRP6	ASAH1	OCA2	NDP	GJA1	HNRNPK	ERCC3	ELN	FGFR1	FGF23	LAMB3	VPS53	VCP	DDOST	GLB1	SETBP1	PROP1	VAMP7	SBDS	DHX37	DLK1	SMPD1	RRM2B	BRAF	RPL10	HNF4A	KCNJ8	NR3C1	FANCF	DCHS1	SLC2A2	CARS1	BUD23	CTC1	AP2S1	TYMS	HMOX1	BANF1	MIA3	SH3PXD2B	NDUFAF6	SEMA5A	RNF113A	MEN1	LIFR	ESR1	MMP1	FANCM	MMEL1	LPIN2	PAPPA2	TTC26	PDE11A	IFT43	NRAS	HTRA1	MC4R	SMARCD2	SDCCAG8	SERPINH1	CBL	NF1	NLRP3	PIGU	HESX1	CFTR	AIFM1	SOX10	MAP2K1	EHHADH	LAMA3	GALNS	AKR1D1	SLC34A3	B3GAT3	FANCE	FANCG	ANAPC1	POU1F1	HRAS	LMX1B	BAAT	SLC25A19	SMS	FSHR	CTBP1	TBCK	SC5D	MDM4	CYP11A1	IARS2	CYP3A4	FANCB	UBE2T	NHP2	PSAP	GATM	ZFPM2	CANT1	PLOD1	IFT140	TMEM38B	SPIB	CASR	ENPP1	ATP6V0A2	RSPRY1	NPHP3	MMP2	SPIDR	ZMPSTE24	WWOX	CREB3L1	PARN	KCNJ1	CLCN7	COX4I2	TAF1	CEACAM6	HS6ST1	DCAF17	LAMA5	SLC29A3	PCCB	CTNNB1	CYP19A1	TJP2	UBA2	PLEC	HLA-DQB1	ASXL2	ARMC5	MTX2	SRC	GCM2	GCLC	KNSTRN	STAT3	RAD51C	CYP27A1	GTF2E2	PEX12	CA2	ADAMTS2	DLX3	NPM1	FANCA	PCCA	ANOS1	GBA1	TNFRSF11B	MTTP	SCARB2	CLIP2	RFWD3	TMEM165	CYP2R1	POU2AF1	PROK2	DMRT3	BMP6	DLL4	FBN1	UROD	NAA20	PWRN1	FGFR2	CLCN5	IL17RD	WRAP53	PDE8B	ERCC8	PWAR1	KCNN4	SRSF2	FBLN5	OFD1	BRCA1	PRKAR1A	ATP6V0A1	DMP1	TSPAN12	ITGB4	P3H1	CHST3	PIGY	TCF4	RETREG1	ATP6V0A4	PIGT	UNC45A	SLC6A14	PHEX	HLA-DQA1	GNRH1	FUT8	ATRX	MALT1	CCN6	POF1B	ERCC4	MAP3K7	ATP8B1	LRRK1	G6PC1	RNF125	CDKN1A	ALDH18A1	RAB3GAP1	PROKR2	CEACAM3	FOXA2	STX1A	VDR	SMARCAL1	TERC	TREM2	ABCC6	KIT	AFF3	CTNND2	HJV	PHKA2	ZNF408	SCN9A	SOX3	SLCO2A1	SLC9A3	TP53	STX16	GFI1	SIK3	HPGD	GTF2IRD1	TENT5A	TET2	WDR35	EBP	POC1A	TWNK	KISS1	FBN2	CDKN2B	RTEL1	SLC34A2	RPL11	PDLIM4	CTDP1	ESR2	NOTCH3	FKBP14	LETM1	MPLKIP	SYK	LHX4	CALCR	EED	HGD	DCTN4	RFC2	FANCD2	PRLR	TBL2	GEMIN4	TACR3	ZNF469	TAC3	GTF2I	TNPO3	TRAPPC2	SOX9	TNFSF15	NELFA	CYB5A	ADAMTSL2	NDUFAF1	SEC23A	SLC17A5	ELANE	DNAJC30	NPAP1	COL5A2	GNPAT	SLC39A14	IER3IP1	POLE	PTEN	BNC1	MITF	HMGA2	SNORD116-1	SLC35A2	CCDC134	NPHP4	TARS1	IFT52	FN1	EIF2AK3	SLC26A2	PDGFRB	GATA1	MTAP	POLR1B	DNAJC21	IRF5	SLC9A3R1	AGXT	IRX5	ARL6IP6	MAP3K1	ZSWIM7	PLOD2	GSTM3	ERCC2	MST1	GORAB	LAMC2	KL	SLX4	NAB2	TCF12	PLOD3	GTF2IRD2	LIMK1	FANCL	USP9X	DDRGK1	CRIPT	HHAT	RTL1	CDKN1C	TOM1	TMEM270	RUNX1	SEMA4D	TRMT10A	INVS	LRP4	POLG2	PHKB	PYGL	COPB2	ALB	NPHP1	RAD51	IQCB1
HP_ABNORMAL_CIRCULATING_CARBOXYLIC_ACID_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_CARBOXYLIC_ACID_CONCENTRATION	COX5A	AASS	ABCD4	FBXL4	ACAD9	PC	SLCO1B3	ABCC2	PDHA1	ZNF699	OTX2	CPT2	PRF1	ETFA	MT-ND1	TMEM67	GATM	SLC25A20	TRMT10C	ACADS	ABCB11	SLC51A	AKR1D1	OAT	HPD	DZIP1L	SUCLG1	CTNS	COX6B1	PDHX	SLC25A15	PEX26	SPIB	PRODH	HCFC1	PSAT1	UQCRC2	SCO1	MCCC1	COX16	ATP7B	SLCO1B1	PCBD1	ALDH5A1	SLC10A1	PCCB	TJP2	TPO	ASS1	NDUFC2	LBR	BCKDHA	SLC25A13	BLVRA	IYD	SLC30A10	ACADM	VIPAS39	NDUFA13	GLRX5	FBP1	UGT1A1	MTHFR	IGF1	VPS33B	MT-ND6	DUOXA2	IL12RB1	SKIC3	MT-ATP6	ATP8B1	ALDOB	KCNN4	ETFB	IDH2	PCCA	AP1B1	IL12A	TAT	IRF6	TNFRSF11B	PET117	GAMT	MTTP	SLC4A1	IMPDH2	GALT	ASL	HMGCL	MMUT	GPX1	MT-TE	VPS50	NR1H4	POU2AF1	TANGO2	SPTBN1	GLYCTK	NGLY1	FAH	GUCY2D	PKLR	NOS3	TYMP	HBB	TG	UROC1	SRP54	PKHD1	CPOX	RHCE	COX10	FARSB	RRM2B	MCCC2	PGK1	PFKM	LIG3	RHAG	ABCB4	MT-TV	NR4A2	PTS	UNC45A	ACAD8	SLC7A7	ALDH4A1	MRPL3	HAL	SLC6A3	SLC35A2	DGUOK	BCAT2	MICU1	NADK2	MCEE	ETFDH	MTRR	NAA10	MMAB	GCH1	DBT	NDUFB10	EFL1	MMADHC	NFU1	KLF1	PSPH	COX8A	MAT1A	GYPC	ANK1	RFX6	MRPS2	SLC22A5	PRDX1	POMC	DUOX2	HK1	FDFT1	MTHFD1	GSR	LYRM7	ETHE1	PNPO	AMT	EIF2AK3	PCK1	TRMU	POLG2	PHGDH	RHD	ASPA	CBS	PAH	MMACHC	TSHB	MYO5B	RACGAP1	POLG	GATA1	CPS1	MIPEP	MT-ND5	ARG1	SPTA1	TSHR	GNMT	VARS2	HFE	NDUFS4	COL7A1	SPTB	EPB42	GLS	PAX8	BCKDHB	OSTM1	LIPT2	PEX19	MMAA	UROS	HADH	SLC34A1	ADK	GCDH	BCS1L	NAGS	OTC	NFE2L2	FH	GLUL	LMBRD1	HSD3B7	TMEM70	GCSH	GPHN	APP	FTCD	SLC19A1	TALDO1	CTH	KIF23	AHCY	DLD	MTR	CYP7B1	MT-ND4	MED12	MRM2	TNPO3	QDPR	PIEZO1	SEMA7A	MPO	CA5A	TNFSF15	TARS2	PRKCSH	SLC17A5	MT-ND2	GLDC	DCDC2	EPB41	DTYMK	ODC1	BCKDK	KARS1	G6PD	L2HGDH	COQ9	PNPLA8	MTO1	AMACR	HSD17B10	ALDH6A1	SBDS	ALDOA	LRP5	CDAN1	FOCAD	DMGDH	BOLA3	KIF12	DNM1L	NHLRC2	NFS1	SARDH	IRF5	ATP5F1A	MT-TK	SLC5A5	PPM1K	ALDH7A1	LIPT1	CASK	NDUFAF6	MICOS13	PIGA	SUGCT	HADHA	UBE2A	MMP1	MMEL1	KYNU	CD320	ABCD3	TTC26	MT-TW	DNAJC21	PLAU	ACADVL	MT-TL1	WDR35	MT-ND3	MDH1	SEC63	SLC2A1	EHHADH	RNU4ATAC	SPR	PDP1	SLC25A4	SUCLA2	TMEM126B	ACSF3	BAAT	SLC52A1	HADHB	SLC51B	MRPS14	DNAJC19	SC5D	PAFAH1B1
HP_ABNORMALITY_OF_LYSOSOMAL_METABOLISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_LYSOSOMAL_METABOLISM	GNPTAB	CLCN7	PSAP	DNAJC5	ASAH1	CA2	CTSD	NOTCH3	CLN6	OCRL	CLN8	TNFRSF11B
HP_ABNORMAL_CIRCULATING_FATTY_ACID_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_FATTY_ACID_CONCENTRATION	ACADM	MMACHC	LMBRD1	NDUFAF6	PEX5	ABCD4	TANGO2	HSD17B4	PEX19	ACAD9	GLYCTK	PEX10	HADHA	COL7A1	MMP1	ABCC8	PEX7	NADK2	MCEE	PEX2	ABCD1	CPT2	AMACR	KCNJ11	MCCC2	GATM	LTC4S	PEX13	AP1S1	PEX11B	SLC25A20	ACADS	HNF4A	ACADVL	PEX16	SLC12A1	PEX14	PEX6	CTNS	PEX26	DLD	SLC22A5	PEX3	EHHADH	PHYH	SCO1	PEX1	DNM1L	DOLK	COX16	UCP2	KCNJ1	ACAD8	PEX12	HADH	SLC34A1	HMGCL	HNF1A	SLC52A1	HADHB	ETHE1	PLA2G4A	MT-TE	TRMU
HP_ABNORMALITY_OF_ACID_BASE_HOMEOSTASIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_ACID_BASE_HOMEOSTASIS	SLC4A1	PAX4	MT-ND4	CIDEC	COX5A	CYP11A1	NDUFA9	NDUFB10	NDUFA2	ABCD4	YARS1	TRNT1	GATB	FBXL4	ACAD9	HS6ST2	UQCRB	PC	MT-ND6	PDHA1	ATP6V1B1	TKFC	ZFP57	PDSS1	CPT2	SERAC1	ETFA	ALDH7A1	TK2	MT-ND1	GATM	SCNN1G	TRMT10C	ACADS	CYP17A1	COQ8A	NDUFS7	MT-TC	NARS2	SUCLG1	CLCNKA	CTNS	COX6B1	ATP5F1E	PDHX	SLC25A15	RRM2B	SLC25A4	NDUFA13	PDHB	BCS1L	CUL3	PBX1	AGK	MT-TL1	HCFC1	TIMM22	KCNJ5	HMGCL	NDUFB8	UQCRC2	SCO1	COX15	LETM1	COX16	PDP1	KCNJ1	SUOX	CAMKMT	NUBPL	NDUFAF8	HYMAI	MT-TN	POLG	PCCB	TWNK	HNF1B	YARS2	NDUFA12	MT-CO1	GFM2	OXCT1	WNK4	NDUFAF2	SLC3A1	CPT1A	ASS1	NDUFC2	CARS2	BCKDHA	SLC25A13	GYS2	ACADM	VIPAS39	WARS2	FDX2	UPB1	EARS2	MT-ND5	RMND1	FBP1	NDUFA11	NDUFAF6	IKZF1	NDUFA1	SLC12A1	VPS33B	KLHL3	MCCC1	ATAD3A	POLG2	MT-TK	MT-ATP6	ALDOB	NDUFA10	MECP2	CA2	ETFB	HLCS	COA8	SLC37A4	LRPPRC	IDH2	NDUFV2	MT-TS2	PCCA	MT-TW	RNASEH1	MARS1	IVD	KCNJ11	PET117	SCO2	AIFM1	MPC1	LARS1	GALT	ASL	NDUFS3	MMUT	SLC26A3	MT-TQ	MT-TE	MT-TI	CLCNKB	FOXRED1	MT-CYB	SDHB	NDUFA4	NDUFS4	PUS1	TANGO2	WNK1	KCNJ10	GLYCTK	PPM1B	NGLY1	FAH	SLC12A3	NEUROG3	MLYCD	NDUFV1	ISCU	COA6	COQ2	IL6	COX20	TYMP	PNPT1	CLPB	GSS	COX10	EPG5	CHCHD10	TMEM126B	GOT2	FASTKD2	IBA57	MRPL44	SLC19A3	GK	LIG3	ELAC2	SURF1	SCNN1A	NDUFAF3	SCNN1B	TPK1	UQCC2	ATP6V0A4	MT-TV	STX3	NDUFS8	NDUFAF1	NDUFS1	MRPL3	DARS2	HNF1A	PET100	PAX2	DGUOK	CACNA1D	NR3C2	SLC4A4	SHOX	TIMM50	MCEE	ETFDH	BSND	INSR	SQOR	LARS2	MMAB	DBT	MDH2	AUH	MMADHC	G6PC1	MT-TF	MPV17	PDSS2	PMPCA	NFU1	HSD17B10	COX8A	AGXT	SLC7A7	OCRL	PITRM1	PLVAP	COQ4	PHKG2	NDUFS6	APRT	MT-TT	MRPS2	SDHA	NDUFA6	DPYS	UQCRH	ACSF3	BTD	PRDX1	PLPBP	RYR1	LIAS	PPA2	NDUFAF4	SLC25A42	NDUFAF5	PNPO	AIP	LYRM7	ETHE1	USP8	EIF2AK3	PCK1	TRMU	TXN2	NDUFA8	CYC1	NR3C1	ERCC6	ITGA3	MMACHC	ABCC8	POLRMT	CLDN16	MCCC2	PHKA2	EHHADH	LCT	CPS1	MIPEP	ATPAF2	PLAGL1	VARS2	QRSL1	PREPL	ADAMTS13	MT-CO3	NDUFS2	MT-TH	NDUFB7	KARS1	BCKDHB	DNM1L	LIPT2	PTPN22	AARS2	MMAA	UQCRFS1	HADH	SLC34A1	CLMP	GCDH	SLC16A1	DLAT	UQCRQ	JAG1	ACADVL	OTC	SOD1	SDHD	MTFMT	FH	MRPS28	RARS2	LMBRD1	TMEM70	HSD11B2	PMPCB	ECHS1	SFXN4	HLA-B	SLC25A10	SLC25A19	COX6A2	GTPBP3	SARS2	INS	GFM1	NSUN3	MRPS16	NOTCH2	NADK2	RBCK1	DLD	MRM2	LYRM4	TAOK1	NDUFB9	SLC25A12	ITPR3	ISCA1	SLC25A26	MRPS7	CA5A	TARS2	PRORP	NDUFB3	HPD	SYNJ1	MT-ND2	ACAT1	RARS1	NAXE	HTRA2	C1QBP	LIPT1	NDUFB11	TSFM	DTYMK	STAT2	ACAT2	ATP5F1D	SLC2A2	L2HGDH	MRPS22	COQ9	MT-ND3	TACO1	PNPLA8	TIMMDC1	MTO1	TRMT5	ALDH6A1	MT-TL2	MRPL12	FOCAD	BOLA3	HNF4A	MT-TP	GATC	TAFAZZIN	KCNJ16	FARS2	NFS1	SLC25A3	GFER	CAD	PPCS	GATA3	MTRFR	LONP1	TUFM	SLC5A1	COX14	MICOS13	PIGA	CYP27A1	SUGCT	HADHA	KYNU	CD320	CACNA1S	MT-CO2	UQCC3	TTC26	HPDL	DEF6	HIBCH	MRPS34	LDHA	PHKB	COX4I1	PYGL	SUCLA2	OGDH	USP18	MYO5B	SLC52A1	HADHB	MRPS14	NAXD	DNAJC19	INVS	CLCN2
HP_ABNORMAL_CIRCULATING_LEPTIN_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_LEPTIN_CONCENTRATION	ZMPSTE24	LEP	LEPR	CIDEC	AKT2	MECP2	BSCL2	AGPAT2	ADCY3	LMNA	LIPE	BANF1
HP_ABNORMAL_CIRCULATING_NITROGEN_COMPOUND_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_NITROGEN_COMPOUND_CONCENTRATION	PNP	CYC1	HPRT1	SH2B1	CFI	AASS	ACAD9	MOCOS	TREX1	CARS2	PKD2	CPT2	PFKM	CFH	SERAC1	CLDN16	AVPR2	MCCC2	GATM	SLC41A1	SLC25A20	CPS1	THBD	ARG1	CTNS	COX6B1	SLC25A15	CFB	COQ7	ADAMTS13	PCCB	HMGCL	UQCRC2	DBH	MCCC1	TNFRSF11A	ATP7B	ERCC4	PHKA2	POLG	ERCC8	SLC22A12	MMAA	HADH	SLC34A1	PCBD1	RINT1	NAGS	CD46	PRPS1	ACADVL	OTC	CC2D2A	HNF1B	NFE2L2	ACADM	TMEM70	GLUL	MMACHC	ASS1	ALMS1	SLC25A13	GPHN	SLC4A1	PCCA	FBP1	SARS2	PPARG	PDHB	REN	NT5E	LMAN1	ALDOB	DLD	MECP2	HLCS	SLC37A4	MRM2	COL4A3	MARS1	TNFRSF11B	GAMT	MMUT	MOCS1	NPHP1	MRPS7	PKD1	XDH	ASL	CA5A	MOCS2	ERCC6	PHKB	WDR19	PAX2	NR1H4	TANGO2	SLC2A9	CFHR3	TSFM	GLUD1	CFHR1	GALNT2	HSD17B10	ATP5F1D	SLC2A2	HBB	GANAB	FLT1	GOT2	MYC	FOCAD	UMOD	HNF4A	MCFD2	SEC61A1	CAD	CPT1A	SLC7A7	ALG5	CCND1	CORIN	DNAJB11	TUFM	NDUFAF6	PIGA	HADHA	ALG8	TTC26	MLIP	TYMP	MMAB	G6PC1	BTD	STOX1	OCRL	APRT	MUC1	NDUFA6	BICC1	SLC22A5	DPYS	ALG11	UQCRH	EHHADH	ZPR1	IFT140	PYGM	FAN1	ACAT1	ELP1	SLC25A42	C3	HADHB	ALG9	EIF2AK3	NBAS	INVS	TMEM260
HP_ABNORMALITY_OF_TEMPERATURE_REGULATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_TEMPERATURE_REGULATION	KRT14	NLRP3	MT-ND4	IRF2BP2	WIPF1	ZIC2	POU1F1	C2orf69	TRNT1	MTMR14	PLCH1	FIP1L1	IFNGR1	TGIF1	MPL	EDAR	JAK2	UBA1	ZNF699	CFH	STAT6	TCF3	PRF1	RNASEH2C	MT-ND1	DOCK2	SLC41A1	TLR4	CYBC1	NODAL	SLC25A20	RAB27A	RMRP	AVPR2	RYR1	POMP	KLHL7	TSC2	IFIH1	CR2	SIX3	SUCLG1	MAGEL2	ARL3	STAT5B	SLC11A1	ALOXE3	MT-TL1	HMGCL	EIF2B3	DBH	CHEK2	EIF2B5	MBTPS2	GALC	ERCC4	DLL1	PTPN3	KCNJ1	WT1	TCIRG1	PMP22	CD247	CYBB	BCR	GAS1	PHOX2B	HSPG2	LIPA	HAVCR2	FCGR3B	STIL	SHH	RNASEH2B	SH3KBP1	VANGL2	POLR3A	TPO	IGHM	FOXH1	CALR	FGF8	MYO1E	PRTN3	DST	IYD	VPS11	CLDN10	TBX3	MAGI2	ORAI1	TRAF3IP2	RAG1	PIK3R1	PTPN2	ZFYVE19	SCYL1	MEFV	NUP205	HLA-DPB1	SCNN1A	NLRP12	EDARADD	SCNN1B	IKZF1	XIAP	NPHS1	SLC12A1	FOXP1	MT-ND6	DUOXA2	XPC	HNRNPK	WAS	EIF2B4	MT-ATP6	PAX2	REL	LHX3	POFUT1	NTRK1	TET2	LACC1	TRIM28	CACNA1S	ACTN4	TRIP13	TRPC6	AVP	CDON	AQP2	GLI2	MT-TS2	LMNB1	IL2RA	BRCA2	HLA-DRB1	CD3D	BCOR	ERCC6	IL12A-AS1	MT-TQ	TMEM165	ENPP1	MT-CYB	IL6R	STAC3	PML	ASAH1	MT-ND5	FGFR1	F5	TNFSF11	SNORD115-1	SPTBN1	NGF	NGLY1	STAT4	TLR7	CFHR3	FAH	UNC13D	ATP7A	PTPRC	BLNK	STXBP2	SLC12A3	CLPB	ADA	PWRN1	POGLUT1	CFHR1	COA6	HLA-B	IL12B	TG	DDB2	MLX	PWAR1	ALG11	RANBP2	SRSF2	PKHD1	MAP2K2	MYO1H	ERCC2	NUP93	EIF2B2	TBK1	BCL6	IRF8	MADD	IBA57	COQ8B	NOD2	STAT3	TSPYL1	LPIN1	TCF4	LBR	MTHFR	CLCN7	TRAF3	PSAP	PTPN22	MT-TV	LSM11	PTS	ITK	SH2B3	CPT2	HBB	ATP2A1	CLCF1	SLC18A2	DGUOK	FBP1	HMBS	IRAK1	WDR1	RB1	IFNG	SLC5A1	SNX10	SLC19A3	MYH3	OCA2	GCH1	IL17RA	NLRC4	NUP107	SH2D1A	MCM10	SMC1A	SCN10A	TP53	MT-TF	IL10	KLRC4	ABL1	SLC29A3	CD2AP	GYPC	ANK1	LYST	ABCA12	DNM2	ATXN3	UQCRH	MYD88	SCN5A	HLA-DPA1	DUOX2	ELP1	NUMA1	P4HA2	DISP1	TRAPPC9	UNC93B1	PLA2G6	ERCC5	SHANK3	EIF2AK3	ASXL1	SMARCAL1	NCF4	CD70	P4HTM	UBE3A	LBX1	ATM	PRSS2	ABCC6	KIT	GATA2	ANLN	TSHB	SCNN1G	MKRN3	COL1A1	PRSS1	PRKAR1A	ATP13A2	RNU7-1	IL7R	MALT1	MVK	MT-CO3	PTCH1	TBC1D8B	TDGF1	SPTA1	CD244	TSHR	IL6	ADAMTS13	H19	CEBPE	GFI1	GLA	CIITA	ABCC2	MT-TH	CLEC7A	NCF1	SPTB	CYP11B2	EPB42	NPHS2	SPR	PAX8	RAG2	EDA	ARHGDIA	TNFRSF1A	IL36RN	PTPRO	CYBA	CHD7	CLCN6	PSMB9	ERCC8	IRF4	UQCRFS1	GABRA2	PMM2	IL2RG	SLC4A1	ACADVL	CD3E	SLC34A2	ERCC3	CTLA4	CRB2	ALPK1	ERAP1	CHRND	NUP37	ZFHX2	STX11	ALPL	TICAM1	HTR1A	MMACHC	GPR35	NFKBIA	CCND1	EMP2	GAPVD1	STING1	SPINK1	ANKRD55	PSMB8	INF2	APOL1	SYK	DIS3L2	BACH2	ANKFY1	TH	TREX1	EIF2B1	NALCN	DDC	SPP1	COG6	RBCK1	SCN11A	PRNP	POU6F2	SCN9A	PEX6	STAT1	IL2RB	CHRNG	PSENEN	BRAT1	RARA	PROP1	SLC22A4	IL17F	KRT5	QDPR	HERC2	CFTR	MRPS7	PSMG2	BIN1	ATP1A2	BRCA1	REST	STAT2	LPIN2	LIFR	ELANE	PIK3CG	PSMB10	BCL2	NPAP1	MT-ND2	GAA	CTRC	RNASEH2A	LAMB3	LHX4	NABP1	EPB41	ZBTB16	ELF4	TLR3	BTK	PRKCD	G6PD	H4C5	TNFAIP3	STAG2	SNORD116-1	MT-CO1	AK2	TSC1	C4A	COL4A3	IL12A	XPA	ALDOA	IL23R	KRT18	PLCE1	FOCAD	GPC3	NPM1	LIG4	NCF2	BCAP31	NFKBIL1	SLC35C1	NLRP1	PSTPIP1	TRAF6	BIRC3	CD79B	CRLF1	MT-TK	SLC5A5	KDF1	SRP54	RUNX1	LRRC8A	LDHA	CASK	MST1	MICOS13	CD27	HESX1	NUP85	LAMC2	CCR1	MYF6	RNF168	DCLRE1C	C3	NAB2	MT-CO2	MT-TW	NKX2-1	PSMB4	CACNA1A	COG7	DEF6	OTULIN	ZNFX1	MIF	ADA2	DNASE2	SAMHD1	STIM1	ADAR	NECTIN4	MT-ND3	SCN4A	RIPK1	SEMA4D	CHRNA1	ITPR2	MAP2K1	BCL10	TSPOAP1	LAMA3	PGM1	NUP160	RNU4ATAC	IGLL1	UBAC2	ACAT1	NUP133	SHQ1	IL17RC	SLC25A19	SLC52A1	HEPHL1	BTNL2	TBL1XR1	NAXD	TBCK	ARHGAP24	KIF1B	ACADSB	FAS	CD79A	DAAM2	CYP21A2
HP_REDUCED_CONSCIOUSNESS_CONFUSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_CONSCIOUSNESS_CONFUSION	SLC4A1	MT-ND4	COX5A	SMARCE1	NDUFB10	ZIC2	ABCD4	POU1F1	NDE1	SNCB	PLCH1	PDHA1	HTT	SLC2A1	CPT2	LRP4	TGIF1	CFH	STAT6	PRF1	ETFA	TLR4	NODAL	SLC25A20	ACADS	MT-ND1	PDX1	HFE	RPS24	ZNF365	CDKN1B	SIX3	SLC25A15	MAGEL2	RRM2B	TBK1	DHCR7	EPM2A	SPIB	RPS27	DNMT1	CASR	PBX1	MT-TL1	ADA2	HMGCL	NDUFB8	EIF2B3	SMO	RPS28	EIF2B5	ISCA2	MEN1	ATP7B	TLR3	SLC39A4	DLL1	NUBPL	GAS1	HNF1A	ADORA2A	POLG	PCCB	MUSK	GUF1	TUBA1A	STIL	SHH	CHRND	RPS29	POLR3A	KCNQ1	TPO	CPT1A	ASS1	FOXH1	FGF8	P2RY11	BCKDHA	RPL35A	MOG	NDUFS7	IYD	ABCC8	ACADM	FIG4	UPB1	TOMM40	BAP1	CTNNB1	RMND1	PSAP	FBP1	NDUFA11	TXNRD2	GNAS	NDUFA1	MCCC1	DUOXA2	IL12RB1	EIF2B4	ALDOB	MT-ND6	NF2	LHX3	HLA-DQB1	ETFB	HLCS	COA8	NDUFV2	PCCA	KIF1A	IL12A	AVP	CDON	SCO2	GLI2	MT-TS2	MMUT	NNT	TNFSF4	ASL	ERCC3	ZNHIT3	IL12A-AS1	MT-TQ	RANBP2	GNA11	MT-CYB	HCRT	MAN2B1	SOX10	POU2AF1	NDUFS4	MT-ND5	FGFR1	NDUFAF2	SLC25A4	BMP6	SLC25A22	GLYCTK	STAT4	CFHR3	ARSA	ATP1A2	NDUFV1	CFHR1	ASPA	HLA-B	ALAD	RPL26	SMARCB1	IL12B	TG	MLX	HLA-DRB1	ABCA7	MRAP	EIF2B2	TMEM126B	CLCNKB	APP	PIGA	GK	TBC1D24	SURF1	TRAF3	NDUFAF3	STAR	RPS19	SNCA	PTS	CYP24A1	NDUFAF1	PPOX	SLC7A7	MT-TE	ALDH4A1	NDUFS1	HJV	RPS15A	PAX2	DOK7	IL18BP	NOTCH3	HMBS	SORL1	IRAK1	TRAF7	PIGG	ETFDH	CHRNE	INSR	SLC19A3	SQOR	SLC25A19	TCN2	SLC22A5	MTRR	MMAB	GCH1	DBT	FKTN	GBA1	HAMP	SMC1A	MMADHC	MT-TF	KLRC4	NFU1	COL13A1	CDKN1A	NFKB2	POLR3K	TREM2	NDUFS6	DPYS	UQCRH	MYD88	MC2R	THRA	AKT2	BTD	PRDX1	HADHA	DUOX2	TWNK	LARGE1	NDUFAF4	PRPS1	RPS7	SLC1A2	GALT	BNC2	DISP1	CHRNA1	SIM1	UNC93B1	LYRM7	HADH	PLA2G6	AMT	SLC12A3	UNC13D	CYC1	PLP1	MMACHC	ATP5MK	GCDH	TSHB	COL3A1	IL10	MYOD1	CTSH	RPS26	MCCC2	RYR1	ATP13A2	PTCH1	AUH	CPS1	GATA1	TDGF1	TSHR	AGRN	ADAMTS13	TRHR	NDUFS2	MT-TH	NDUFS8	CPOX	SPR	PAX8	BCKDHB	GCK	UCP2	STXBP2	MMAA	ERCC4	RPL15	SLC19A2	NAGS	ATP1A3	AK9	PDGFB	ACADVL	RPL11	CDKN2B	OTC	HIBCH	ERAP1	SLC5A5	TICAM1	RARS2	LMBRD1	GFAP	ERCC5	RPL27	GCSH	NOTCH2NLC	CUBN	NUP88	ABCD1	TBP	IFNGR1	AKT1	NDUFA6	BRAF	TH	EIF2B1	DDC	YY1	MRPS16	SPP1	RPS10	MT-TT	DLD	PRRT2	POMT1	SLC25A13	NHLRC1	GABRB2	TNPO3	SIK1	AARS1	NDUFB9	PROP1	CACNA1A	CA5A	RPL18	TNFSF15	PSEN1	DPYD	CDKN2C	RPL31	HMGCS2	NDUFB3	RPL5	KCNJ11	PSEN2	GLDC	NAXE	STAT3	PRNP	NDUFAF8	NDUFAF5	LHX4	FKRP	DMPK	PIK3CA	GLUD1	TERT	ATP5F1D	STAG2	MT-CO1	C4A	MT-ND3	TIMMDC1	KCNE1	POMT2	CHRNB1	FOXRED1	IL23R	KRT18	TSR2	MEFV	BOLA3	SCN4A	ASH1L	NFS1	STX11	IRF5	CHRNA2	MT-ND2	IVD	LONP1	RPS20	ABAT	GJB1	NDUFS3	HESX1	SUGCT	MMEL1	CCR1	KYNU	SUFU	NAB2	MT-CO2	TTC26	RPS17	SLC2A3	HNF4A	NAA10	RAPSN	SLC18A3	HADHB	INS	ERCC2	RPL35	PRDM8	TSPOAP1	POLG2	GYS2	RNU4ATAC	UBAC2	SLC13A3	NDUFB11	ACAT1	SHQ1	MT-CO3	USP18	SLC52A1	MT-TW	NAXD	ACADSB	NBAS	FAS	MTHFR	SCN1A
HP_FOCAL_DYSTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_DYSTONIA	COL6A3	SOX10	PRKAR1B	PCGF2	GNAS	GDAP2	AARS1	CACNA1A	SPTBN1	TBP	CP	NAXE	THAP1	COL12A1	MAPT	PRDX3	ATP1A3	TBC1D24	TOR1A	C19orf12	SLC39A14	POLR1C	RNF170	COASY	ANO3	GNAL	COX20	SPG11	ATP13A2	POLR1D	FGFR2	TCOF1	TIMM8A	SALL4	TGM6	ARX	PANK2	KCNC3	KMT2B	SLC6A3	STX16	ATN1	NKX6-2	ITGA7	CASR	FLI1	CDK10	DRD5	PLA2G6	AOPEP	PRKRA	COL6A1	PRKCG	GCH1	POLR1B	FTL	NR4A2	FGFR3	CNP	KCTD17	SYNGAP1	ALS2	HPCA	HSPG2	HEXB	VPS13A	SGCE	COL6A2	ZNF142	HK1	ALDH18A1	MYF5	ACTA1	REEP1	CHN1	KIF1C	MECR	PRRT2	NGLY1	PARK7	HINT1	TWIST1	SCP2	SLC19A3	SPTLC1	DRD2	B3GALT6	NAA10	TGFB2	PNKD	FUS	VPS16	TH	ROBO3	KCNN2	TUBB4A	DDC	ATP5MC3	TRPV4	KCNA1	NDUFA6	TUBB3	TSPOAP1	CEP85L	TAF1	NEK9	SIGMAR1	CPLX1	IMPDH2	ALG9	SUPT16H	COLEC11	PLP1	MAFB	GNA11	VAC14	STARD7	VPS11	CIZ1
HP_HEMIPLEGIA_HEMIPARESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMIPLEGIA_HEMIPARESIS	DNASE1L3	PMS1	EOGT	MT-ND4	HPRT1	PCYT1A	SMARCE1	TUBB2B	ADA2	PAH	CACNA1A	TREX1	PNPLA6	MT-CYB	MT-ND6	IL10	AIPL1	SLC2A1	PDGFRB	PEX7	SPATA7	CASZ1	CFH	DOCK8	PRF1	MEOX1	RNASEH2C	TLR4	RNU7-1	SNORD118	RHOBTB2	KRAS	MT-TC	SPEN	GNAQ	TSC2	DLL4	ENPP1	SPATA5L1	SKI	IQCB1	STAT4	CYP26C1	TBK1	RPE65	HSPG2	TSC1	MT-CO3	MSH2	MT-TH	MT-TL1	ATP1A3	HMGCL	FAN1	WDR62	SMO	AKT3	DOCK6	TLR3	ENG	SPOP	SUOX	ARG1	THSD1	PDGFB	PROKR2	RDH12	CTLA4	RNASEH2B	ERAP1	MT-CO1	CRB1	SCN5A	CPT1A	COL4A2	TPRKB	NOTCH1	PRTN3	MLH1	SCN1A	RRM2B	GDF6	ABCC6	PLA2G6	MT-TV	IFT140	ABCD1	AMACR	BAP1	POMT2	IFNGR1	MT-ND5	FKTN	PRDM16	LUZP1	AKT1	HLA-DPB1	SLC1A3	ARNT2	PIK3CA	TGFBR3	RD3	ANGPTL6	SPP1	MT-TK	WDR4	NF2	SOX3	NAGA	PRRT2	B3GALNT2	HLA-DQB1	PDPN	RNF216	SMARCAL1	IMPDH1	TUBB4B	MT-TS2	MT-TW	GNB1	KCNAB2	ARX	GDF3	USP45	LARGE1	IL12A-AS1	MT-TQ	ATP1A2	PRORP	NUP107	LCA5	PHYH	CEP290	GBE1	NUP133	CFHR3	RERE	LAGE3	SMARCB1	GABRD	RNASEH2A	TTPA	PRNP	PTEN	KCNJ13	CFHR1	TERT	HLA-B	COQ2	PRKCZ	C4A	PNPLA8	OSGEP	IL12A	HESX1	IL23R	SLC12A6	SOX2	MEFV	FGFR1	RBPJ	TBC1D24	ARHGAP31	MT-TF	TULP1	NPPA	MSH6	RPGRIP1	MT-ATP8	SP110	EPCAM	LSM11	RPS20	MTOR	CTC1	NOTCH3	TBX1	MMP23B	COL4A1	DCC	GALC	GMPPB	LRAT	TGFBR2	GUCY1A1	WDR73	TP53RK	GUCY2D	OTX2	PMS2	IRAK1	POMT1	CCR1	TRAF7	TP53	SUFU	FKRP	MT-CO2	UBE4B	L1CAM	TPP2	DNM1L	NMNAT1	BMPR1A	IFIH1	OPA1	HTRA1	SEMA4A	MT-ND1	TTR	MLH3	CBS	SAMHD1	KLRC4	ADAR	CRX	HLA-DPA1	UBAC2	MMUT	PTPN22	POMGNT1	HRAS	COL3A1	FAS	MTHFR	IKBKG
HP_NEOPLASM_OF_THE_NERVOUS_SYSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_NERVOUS_SYSTEM	PMS1	ZFTA	SDHB	ALK	MBD4	SMARCE1	SDHC	TSC1	SDHD	ASCL1	GCDH	SLC25A11	CPLANE1	BAP1	NF1	VHL	PDGFRB	PRKAR1A	NUTM1	CASZ1	ERBB2	KIAA0753	STAT6	GPR161	BRCA2	APC	CCBE1	ADAMTS3	EIF3F	DNMT3A	CTNNB1	SETD2	PHOX2B	FAT4	SPEN	DICER1	MAX	RET	CDKN1B	SDHAF2	MSH2	ASXL1	SKI	SEC23B	TCTN3	MLH1	HSPG2	GLI3	FH	FAN1	L2HGDH	SMO	LZTR1	SPRED1	MEN1	GCGR	IFNG	HACE1	KRAS	PDGFB	BDNF	CDKN2B	TIAM1	NTHL1	EDN3	TOPORS	CDKN2A	CREBBP	WDPCP	OFD1	MYCN	YY1	EPHB2	PRDM16	LUZP1	AKT1	VPS16	SUFU	HRAS	PIK3CA	NF2	PTCH1	APC2	KRIT1	CCND1	KIF7	PTEN	PDPN	KIF1B	RAF1	WRN	TUBB	TP53	KCNAB2	BRD4	ELP1	SMARCB1	FGFR1	IDH1	SDHA	CDKN2C	KARS1	ATRX	GDNF	PDE6D	TOP2A	NRAS	PTCH2	MAFA	SPTBN1	POLE	RERE	MN1	GABRD	BMPR1A	USF3	TERT	TMEM127	KCNJ11	POT1	NBN	MDH2	CCM2	PDCD10	MSH3	PRKCZ	SETBP1	FLI1	NSD1	SOX2	MAN2C1	ALX3	ALX1	EPAS1	GPC3	MYO1H	RB1	AAGAB	MDM2	MSH6	EPCAM	RPS20	KIT	MMP23B	LIN28B	ZSWIM6	TGFBR2	NOTCH3	GPC4	LRP1	DLST	SIX6	PMS2	PALB2	WT1	TRAF7	CHEK2	NAB2	UBE4B	DAXX	TSC2	MAPRE2	COL14A1	SEMA4A	LMO1	TMEM216	RELA	MLH3	BRAF	CDKN1A	RUNX1	LMNA	OCRL	RNF43	ARMC5	POLD1	PDE11A	FAM149B1	KEAP1	KLLN	GNAS	PTPN11	EWSR1	IDH2	EP300
HP_HEMATOLOGICAL_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMATOLOGICAL_NEOPLASM	F13A1	WIPF1	FANCB	RASGRP1	UBE2T	TET2	SAMD9L	BCR	MPL	KLHDC8B	UBA1	HAX1	RNASEH2C	IDH1	TERT	PTPN11	RMRP	SETD2	RPS24	TERC	FCHO1	PIGL	MSH2	THPO	ASXL1	JAK2	PIK3R1	MYD88	RPS27	TCF4	MSH6	ADH5	ADA2	LIG4	RPS28	RECQL4	PARN	IKZF3	TCIRG1	NFKB1	CCND1	FANCC	PALB2	RPS14	RNASEH2B	MAGT1	RPS29	CREBBP	HLA-DQB1	LZTR1	BRCA2	LRBA	RPL35A	GATA2	TRIP13	SOCS1	TP63	MLLT10	TINF2	TP53	ERBB3	PGM3	XIAP	KIF11	RAD51C	GINS1	FOXP1	BCL10	APC	CTC1	WAS	APC2	CD19	MAD2L2	RAF1	SMARCAL1	NPM1	FANCA	NUP214	HLA-DRB1	BRIP1	DNMT3A	XRCC4	PTEN	MYC	RFWD3	SRP54	SPRED1	IGKC	DUT	ATRX	BUB3	PTPRC	IKZF1	CBL	CLPB	DDX41	ADA	ALAD	POT1	RPL26	NBN	WRAP53	ETV6	TAL1	SRSF2	SAMD9	BRCA1	BCL6	SBDS	NSD1	CALR	RARA	RB1	AAGAB	CSF3R	RAG1	RPS19	NTHL1	LSM11	ITK	CDKN2A	BLM	SH2B3	GBA1	RPS15A	HLA-DQA1	EP300	NBEAL2	RAD54B	ATM	PRKCD	STAT3	CD28	ERCC4	SH2D1A	SCN10A	EFL1	BRAF	ABL1	RUNX1	TCF3	RNF43	FLT3	GNB1	PICALM	RHOH	RPS7	FAS	BUB1	CD70	PRKACB	DNASE1L3	PNP	CASP10	MBD4	TREM2	TYROBP	SF3B1	KIT	CTLA4	NUTM1	IRF2BP2	RPS26	HSCB	FANCD2	PDGFRB	F13B	RNU7-1	IL7R	MALT1	HAVCR2	GATA1	TNFRSF1B	MLH1	GFI1	FANCE	NHP2	NUMA1	TNFRSF13B	H4C9	BUB1B	NOP10	CHD7	TAL2	RPL15	KRAS	IL2RG	RPL11	PDGFRA	RTEL1	ZAP70	NAGS	NF1	RPL27	SRP72	CHIC2	MYSM1	ICOS	SYK	BAX	STS	TNFRSF13C	ARHGAP26	USB1	RPS10	FASLG	SCN11A	SCN9A	FANCI	DKC1	CR2	MCM4	BRD4	TREX1	TTC7A	RPL18	XRCC2	RPL31	RPL5	ELANE	BCL2	NSUN2	CEP57	RNASEH2A	POLE	LPP	SETBP1	EVC2	SMPD1	TSR2	NRAS	RAG2	CTPS1	FANCF	DNAJC21	MDM2	GLI1	BIRC3	TYMS	MAP2K1	RPS20	NFKB2	SH3GL1	PIK3CA	CD27	FANCM	CHEK2	DCLRE1C	SLX4	MEFV	PMS2	FANCL	RPS17	IFIH1	DEF6	COL14A1	SMARCD2	SAMHD1	MS4A1	IGHG2	ADAR	CD81	FANCG	TNFSF12	RPL35	RAD54L	DYNC2LI1	PRF1	ANAPC1	CEBPA	RAD51	EVC	PRKACA	HSPA9	RPA1
HP_ABNORMALITY_OF_THE_ANUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ANUS	PIGN	FGF8	EXTL3	CHRM3	MKKS	DLL1	FANCB	WNT7A	UBE2T	FGFR2	GPC4	KYNU	ERCC4	CASZ1	IRF2BP2	MEOX1	PIGY	PITX2	CYBC1	DYNC2I1	WASHC5	NDUFB11	FRAS1	RNU12	TNRC6B	SPEN	KDM6A	PIGV	CDH1	WDR35	CTNND1	SKI	TBX1	WNT3	HSPG2	MNX1	TCTN3	COX7B	COL7A1	GLI3	GP1BB	TBX3	DYNC2H1	HCCS	ZIC3	SIX3	LIG4	G6PC3	MED12	RREB1	IKZF3	IFT80	RMRP	CHD4	NFKB1	RAD51	MAMLD1	EPCAM	FANCL	CDON	ACADVL	FREM2	PALB2	MYCN	TWIST2	FAT4	FERMT1	VANGL1	BRCA2	KMT2C	FOXH1	FREM1	SPINT2	HSPA9	GDF6	PTCH1	UPB1	SMO	ICOS	ISL1	SYK	BCOR	TDGF1	PRDM16	LUZP1	UBR1	MKS1	SIN3A	LONP1	C2CD3	RAD51C	CD96	ABL1	FANCD2	RECQL4	DVL3	DDX6	GATA1	TP63	POMT1	IL10RB	RRAS2	PDPN	POFUT1	CDH11	MAD2L2	ATN1	CHD7	PSENEN	FANCA	PQBP1	DYNC2I2	FANCI	DKC1	PIGO	AR	KCNAB2	KRT5	BRIP1	CR2	GDF3	FOXF1	CD19	SUZ12	CEP120	TNFRSF13B	RFWD3	XRCC2	MID1	ROR2	GAS1	SHH	NSUN2	RERE	KIF7	ADAM17	GABRD	RIPK4	FKRP	POGLUT1	PTDSS1	PERCC1	ELF4	HIRA	CAPN15	CDC45	NBN	NAA10	SALL4	IL10RA	PRKCZ	INTU	SETBP1	CACNA1C	KMT2D	POMT2	SALL1	FOXC1	BRCA1	POR	DACT1	ARVCF	DDB1	FANCF	ELANE	DCHS1	NFIX	B3GLCT	STIL	EGFR	PGAP2	MMP23B	TGIF1	SLC25A24	COMT	TWIST1	DOCK8	CCDC22	CDK8	FUZ	RIPK1	SEC24C	NFKB2	EMC1	GRIP1	ATP2A2	MMP1	FANCM	FLI1	SLX4	UBE4B	TGFB1	TNFRSF13C	PKP1	PIGW	FKTN	NODAL	USP9X	DEF6	PGAP3	PPP2R3C	DISP1	NXN	MS4A1	GPC3	CD81	RFX6	ESCO2	DPYS	TNFSF12	JMJD1C	CD3G	FANCE	FANCG	GLI2	THOC6	LARGE1	SNRPB	EHMT1	CCNQ	ZIC2	HOXD13	AMER1	PRKCD	PORCN	UFD1	FANCC	RSPO2	PIGL
HP_ABNORMALITY_OF_ALKALINE_PHOSPHATASE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_ALKALINE_PHOSPHATASE_LEVEL	POU2AF1	ABCC6	CYP3A4	CYP27B1	TCIRG1	CYP7B1	PTH1R	PIGB	TREX1	DCDC2	HNRNPA2B1	USP53	BCR	LIPA	FGF23	ENPP1	VCP	TMEM67	PIGY	NR1H4	SLC2A2	TNFRSF11A	C18orf32	PIGK	ABCB11	CEBPE	SOST	SLC51A	PIGV	AKR1D1	PKHD1	TMEM199	ASXL1	CCDC115	SPIB	DMP1	SIK3	PLEKHM1	COG4	HNF4A	CCDC47	CHEK2	KIF12	PRIM1	TCF4	SGMS2	CSF3R	COG6	SLC39A4	TET2	HNRNPA1	CLCN7	BCS1L	IRF5	ALPL	PGAP2	PIGQ	PHEX	ZNF687	NPR3	GPR35	ABCB4	LBR	SLC25A13	MST1	ELMO2	ESR1	RB1	MMEL1	FAM20C	PGAP3	TTC26	PIGT	SQSTM1	PIGW	CTNS	PIGA	TRPV6	LRRK1	TP53	CBL	IL12RB1	PIGO	SLC34A1	RUNX1	SEMA4D	ATP8B1	TNPO3	IL12A	SLC34A3	CYP2R1	ABL1	TNFRSF11B	PIGS	FKBP10	HNF1B	SLC37A4	SRSF2	PRKCSH	TNFSF15	ACVR1	VDR	SC5D	PIGL	PKD2
HP_AORTIC_VALVE_CALCIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AORTIC_VALVE_CALCIFICATION	GATA5	ZMPSTE24	NOTCH1	GBA1	SMAD6	IFIH1	LMNA	NKX2-5	HGD
HP_SUPRAVALVULAR_AORTIC_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPRAVALVULAR_AORTIC_STENOSIS	TMEM270	DNAJC30	BCL7B	MLXIPL	RRAS2	VPS37D	ABCG5	GTF2I	NCF1	LDLRAP1	GTF2IRD1	APOB	FBLN5	EFEMP2	ABCG8	EIF4H	BUD23	CLIP2	ELN	GTF2IRD2	LIMK1	LTBP1	FKBP6	PCSK9	METTL27	LDLR	RFC2	STX1A	BAZ1B	TBL2
HP_MITRAL_VALVE_CALCIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MITRAL_VALVE_CALCIFICATION	ZMPSTE24	IFIH1	HGD	SLC34A2	GBA1	MTX2	LMNA	FBN1
HP_PROTRACTED_DIARRHEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROTRACTED_DIARRHEA	CD247	SDHD	RFXAP	RFXANK	MYO5B	CD3D	ATRX	RAG2	CD3E	RFX5	CIITA	DAXX	RAG1
HP_GASTROINTESTINAL_INFLAMMATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROINTESTINAL_INFLAMMATION	FOXP3	DCLRE1B	PIK3CG	UNC13D	PHGDH	F13A1	POU2AF1	WIPF1	NCF4	IARS1	HLA-B	RTEL1	POLA1	GLRB	PI4KA	STXBP2	FAS	STAT1	STXBP1	LAMB3	PRF1	DOCK8	SKIC3	CARMIL2	ELF4	DOCK2	GLRA1	PIK3CD	ADAMTS2	WAS	F13B	CYBC1	TNFAIP3	RFXANK	SLC6A5	IL10RA	FCHO1	LMX1B	IL37	IL21	SLC37A4	MYH11	ABCB1	COL7A1	SKIC2	IVNS1ABP	BCL10	SPIB	RASGRP1	TCF4	ADAMTSL2	GRB10	INAVA	IRGM	RFX5	GUCY2C	PIGY	PSTPIP1	FCN3	ELANE	COG6	CARD8	STX11	MASP2	IRF5	ZAP70	CTLA4	RPL11	SLC9A3	MEN1	XIAP	GPR35	RIPK1	LRBA	MST1	MMP1	NOD2	PRKCD	LAMC2	MMEL1	PLCG2	SMAD3	PGM3	MEFV	FERMT1	TGFB1	SYK	CASP10	BACH2	TGFB2	HPS1	NLRC4	DEF6	RET	FNIP1	ACADVL	RFXAP	CDKN1B	DNASE2	IL12RB1	ARPC1B	CARD10	RBCK1	PSPH	FASLG	CIITA	TOM1	TGFB3	IL10RB	SEMA4D	REL	JAK1	LAMA3	TNPO3	IL12A	SLC2A10	TRAPPC11	TGFBR2	GPHN	TTC7A	TNFSF15	OPLAH	GPIHBP1	HLA-DRB1	TGFBR1	ATP7A	MAP3K7	IL6	ATAD1
HP_ENTEROCOLITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENTEROCOLITIS	TOM1	FCN3	ELANE	PIK3CG	IL10RB	NLRC4	TTC7A	DEF6	RET	SLC37A4	OPLAH	IL10RA	ACADVL	STAT1	PLCG2	PIGY	MYH11
HP_INTESTINAL_PSEUDO_OBSTRUCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTESTINAL_PSEUDO_OBSTRUCTION	RABL3	TWNK	HNRNPK	MT-ND4	POLG	MT-ND6	RAD21	MT-ND5	MT-TH	MT-TL1	IDS	SMAD4	PALB2	BRCA1	PALLD	BRCA2	MT-CO2	SMO	MT-TS2	TYMP	CDKN2A	LIG3	ERBB3	MT-CO3	MT-CO1	MT-TW	KRAS	ACTG2	FLNA	MT-TF	TP53	MT-TQ	MYH11	MT-ND1
HP_HAMARTOMATOUS_POLYPOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAMARTOMATOUS_POLYPOSIS	PTEN	PIK3CA	PTCH2	KLLN	SMAD4	BMPR1A	MSH3	SDHD	SDHB	GREM1	SUFU	AKT1	SDHC	STK11	PTCH1	USF3	SEC23B
HP_MULTIPLE_GASTRIC_POLYPS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_GASTRIC_POLYPS	MSH3	SMAD4	BMPR1A	APC	ENG	STK11	TREX1
HP_MALNUTRITION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALNUTRITION	SLC7A7	HLA-DQA1	CTRC	ALDOB	ATP6V0A1	BMP4	MYO5B	COL7A1	TP63	FOCAD	LAMA3	MMP1	ARHGAP29	SPINK1	LAMC2	SLC5A1	LAMB3	NECTIN1	HLA-DQB1	PDGFRA	CRLF1	SAA1	TYMP	LMNB1	DNAJC21	POLG	IRF6	MSX1	COX4I2	DLX4	CDH1	ACTG2	EFL1	SRP54	LIPA	DLG1	NOS1	SBDS	SAR1B
HP_POOR_APPETITE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POOR_APPETITE	NAGS	MAP3K20	RHBDF2	IL18BP	SLC25A13	CAMK2B	SMAD4	SLC39A4	TPM3	PALB2	BRCA1	BRCA2	DAXX	CDKN2A	CTNS	TYMP	MYL2	SLC2A2	POLG	KRAS	MGME1	AMN	TPM2	TP53	ITGA7	ABL1	RABL3	RRM2B	WLS	ACTA1	GRB10	LIG3	PCCA	PALLD	KRT1	TGFB1	KRT10	PIK3R1	HACD1	SLC25A26	SELENON	BCR	LEMD2	RUNX1	PCCB	ATRX	BLM	CUBN
HP_ECTOPIC_ANUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTOPIC_ANUS	PIGN	FGF8	MKKS	DLL1	FREM1	FGFR2	KYNU	PTDSS1	ERCC4	MEOX1	CDC45	PIGY	DYNC2I1	FRAS1	GLI3	RECQL4	SETBP1	PIGV	WDR35	POR	WASHC5	CDH11	DDB1	ZIC3	SIX3	MED12	DCHS1	NFIX	IFT80	CHD4	B3GLCT	STIL	PGAP2	CDON	TGIF1	ACADVL	SLC25A24	FREM2	TP63	TWIST2	FAT4	CCDC22	DVL3	CDK8	DYNC2H1	FOXH1	GRIP1	NDUFB11	UBR1	GDF6	PTCH1	FLI1	TBX3	COX7B	PIGW	TDGF1	NODAL	PGAP3	C2CD3	DISP1	NXN	PIGO	DDX6	RFX6	RRAS2	ESCO2	ATN1	DYNC2I2	GLI2	SNRPB	SALL1	ZIC2	GDF3	PORCN	SUZ12	MID1	DACT1	ROR2	PIGL	GAS1	SHH	HCCS
HP_PEPTIC_ULCER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PEPTIC_ULCER	TMEM270	DNAJC30	BCL7B	ARID1B	MEN1	MLXIPL	VPS37D	WFS1	HPGD	GTF2I	CDC73	KIT	NCF1	GTF2IRD1	CISD2	TET2	EIF4H	BUD23	CLIP2	GTF2IRD2	LIMK1	SLCO2A1	FKBP6	AP2S1	CDKN2C	CDKN1B	SRSF2	CDKN2B	METTL27	PLA2G4A	RFC2	ASXL1	GNA11	STX1A	BAZ1B	GBA1	CDKN1A	ELN	TBL2
HP_ABNORMALITY_OF_THE_PYLORUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PYLORUS	BRD4	ITGB4	RAD21	NPHS1	SH2B1	MTMR14	NEDD4L	RERE	PAK2	BCR	NIPBL	GABRD	LTBP4	TMTC3	FIG4	RTL1	ZNF699	CASZ1	PEX11B	COL18A1	ITGA6	LAMA3	RYR1	CCBE1	NAA10	ADAMTS3	LTBP1	FAT4	FBLN5	PRKCZ	SPEN	PEX12	MEG3	SKI	NEK9	HDAC8	PLEC	DHCR7	HSPG2	NEFH	NCF1	TBX3	PYCR1	ARFGEF2	PEX3	NCF2	SMC3	PEX5	MAP1B	PEX10	ZEB2	HDAC4	MED12	CYBA	NFIX	SMC1A	CYBB	MMP23B	FLNA	PIEZO2	PEX2	VAC14	HNF1B	MTM1	PEX6	PEX19	PEX14	LAMC2	MYF6	FLI1	CRKL	PEX16	UBE4B	CYBC1	EFEMP2	NFKB2	BCOR	PRDM16	LUZP1	PPP2R5D	PEX1	PPP2R3C	DYRK1A	SERPINH1	SYT2	HRAS	ERMARD	PEX13	FGFR2	OTC	PDPN	DNM2	DLK1	LAMB3	KCNAB2	SLC2A10	PEX26	KANSL1	TFAP2A	MAPK1	BIN1	ARF1	DHODH	NCF4	CAVIN1	MAP3K7	GTF2H5
HP_MECONIUM_ILEUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MECONIUM_ILEUS	TGFB1	GSTM3	GCLC	CFTR	CEACAM3	HFE	CLCA4	CEACAM6	STX1A	EDNRA	SLC9A3	SLC6A14	KCNN4	MIF	DCTN4	SLC11A1	FCGR2A	SERPINA1	HMOX1	GUCY2C	SLC26A9
HP_ABNORMAL_NIPPLE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NIPPLE_MORPHOLOGY	BRD4	UBA2	PIGN	ERCC6	MAN1B1	ABCD4	NSD2	HS2ST1	PNPLA6	TP63	GPC4	CHD7	GNE	RAB18	PIGY	IDH1	MEG3	FRAS1	PTPN11	CBL	TNRC6B	GNPTAB	AMMECR1	PIGV	WAC	RRAS2	PIGL	MEGF8	HDAC8	DHCR7	COX7B	TCF4	TBX3	TWIST2	EFNB1	SLC25A46	CCDC47	TBL1XR1	EDA	H4C9	CPT2	KAT6A	KDM1A	RRAS	MRAS	SMPD4	TMEM94	KISS1	CPLX1	SMC1A	PTPRF	EDARADD	RIT1	KDM5B	PMM2	GTF2H5	LAMA5	WNT7A	FREM2	DPAGT1	ALG12	HS6ST1	STAG1	LZTR1	ZEB2	MAPRE2	DHODH	CHRNG	MASP1	LETM1	DUSP6	MPLKIP	ZC4H2	RERE	KNSTRN	PPP2R5D	PACS1	UBR1	TCF20	SRD5A3	COLEC11	PIK3CD	ARHGAP31	KIAA0586	ARCN1	WDR11	ASXL3	EED	KATNB1	RFT1	HNRNPK	GTF2E2	DDX6	TMCO1	UBE2A	CSPP1	KRAS	KRT10	TACR3	NECTIN1	ALG3	CDH11	RNF216	SOS1	ATN1	NFIX	TAC3	EBF3	PIGG	GNRHR	FIG4	CDH2	TUBB	KANSL1	BICRA	TFAP2A	TRRAP	NELFA	KDM6B	TIMM50	ZNF148	WDR19	PPP1CB	SRY	RAD21	ERCC3	GATA4	IKBKG	SETBP1	ERMARD	B4GALT1	NIPBL	RIPK4	NRAS	GNB2	KCTD1	BRAF	IGF1R	CHAMP1	COLEC10	INSR	C18orf32	SLC35A2	TFAP2B	INTU	ZMYND11	ALG11	CACNA1C	ARHGEF2	SPRY4	SOS2	TOGARAM1	DLK1	H3-3A	EXOC2	TARS1	SMARCA2	MADD	IBA57	WASHC5	SMS	ALG9	RSPO2	ALG2	GDF11	SMC3	ALG14	COG1	TTC5	SPRED2	NSMF	GPC3	CHST3	HDAC4	ASH1L	WNT3	KIF15	CARS1	ANTXR1	B3GLCT	WDR37	PIGT	PGAP2	CDK13	MGAT2	CERT1	RASA2	SLC25A24	NUP188	COG7	VAC14	KMT2B	RAF1	ASXL1	DPM1	ACTB	MAP2K1	CCDC22	RAB3GAP2	GNRH1	KIFBP	ERCC2	PSAT1	STT3A	RNF113A	TRAF7	WASF1	GRIP1	PROK2	PIGW	CKAP2L	MDH2	PEX3	USP9X	DEF6	PGAP3	SOX6	SET	RTL1	FGF8	NF1	PIGO	FGFR1	KISS1R	LBR	WLS	EZH2	FGF17	MAB21L1	NONO	OFD1	CILK1	ACOX1	PROKR2	ALG8	AMER1	ADNP	PORCN	CTBP1
HP_SPONTANEOUS_RECURRENT_EPISTAXIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPONTANEOUS_RECURRENT_EPISTAXIS	ITGB3	GP1BA	SRC	ACVRL1	ITGA2B	GP9	GP1BB	GDF2	HPS3	ENG	GBA1	LYST	MYH9
HP_ABNORMALITY_OF_THE_SENSE_OF_SMELL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_SENSE_OF_SMELL	PROKR2	PHYH	PODXL	SOX10	VPS35	PROK2	SMARCE1	CCDC141	FGF17	SEMA3E	FGFR1	CHD7	HTT	SLC39A14	FGF8	SCN9A	SNCA	PEX7	KISS1R	PIK3CA	TERT	IL17RD	SMARCB1	WDR11	SEMA3A	SHH	DCC	PRKN	DNAJC13	HTRA2	MFN2	HESX1	TSHZ1	SOX2	BAP1	HS6ST1	ADCY3	REV3L	SMO	ATP13A2	SUFU	GIGYF2	ATP7B	FGFR2	LRRK2	TAC3	LGI1	PLXND1	PINK1	SMCHD1	EIF4G1	PDGFB	VPS13C	NDNF	SYNJ1	ARSL	FEZF1	OTX2	DUSP6	FGFR3	TRAF7	CEP290	PTCH2	SCP2	DNAI1	PTCH1	FGF10	SPRY4	TCF12	AKT1	PTPN11	SLC2A3	ARNT2	HYLS1	ANK1	LZTFL1	UCHL1	DDX6	SOX3	NF2	ANOS1	NSMF	IFT27	PARK7	KIF7	TACR3	GNRH1	GBA1	RELN	SOX9	FLRT3	MICAL1	DNAJC6	ATP7A
HP_HYPOSMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOSMIA	PROKR2	PODXL	VPS35	PROK2	CCDC141	FGF17	FGFR1	CHD7	DUSP6	SLC39A14	FGF8	SCN9A	SNCA	CEP290	FEZF1	SCP2	SPRY4	IL17RD	PTPN11	SEMA3A	DCC	LZTFL1	PRKN	DNAJC13	HTRA2	UCHL1	DDX6	TSHZ1	LRRK2	HESX1	ANOS1	SOX10	NSMF	IFT27	HS6ST1	NDNF	PARK7	ADCY3	TACR3	GBA1	ATP13A2	FLRT3	GIGYF2	ATP7B	DNAJC6	PINK1	SMCHD1	EIF4G1	VPS13C	SYNJ1	WDR11
HP_DEVIATED_NASAL_SEPTUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVIATED_NASAL_SEPTUM	NONO	CREBBP	NF1	PAH	EP300	EXOSC5
HP_ABNORMALITY_OF_THE_PULMONARY_ARTERY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PULMONARY_ARTERY	ELN	EOGT	DNAJC30	ITPR1	PLXND1	MGP	ESS2	VPS37D	AASS	GATA4	DGCR2	GATA6	RPL10	TNFSF11	ARSL	FOXF1	COL3A1	BGN	LTBP4	GDF1	NRAS	SKIC3	IPO8	ALDH18A1	MEG3	PAX6	SOX10	CBL	BCOR	LTBP1	FLT4	FBLN5	RRAS2	METTL27	PIGL	PLD1	DLL4	CRELD1	SOS2	DLK1	SKIC2	DGCR8	RBPJ	ARHGAP31	PTPN11	SPRED2	GTF2IRD1	ZEB2	AGGF1	DOCK6	MMP21	CLCN7	RRAS	MRAS	BCL11B	BUD23	TMEM94	DGCR6	RIT1	PKD1L1	TYR	COL5A1	RASA2	JAG1	ACTA2	RAF1	BAZ1B	KITLG	DVL3	TRAIP	BCL7B	POLA1	SLC2A10	MLXIPL	ADAMTS19	LZTR1	ACVR2B	BMPR2	NOTCH1	MYH7	NCF1	LIFR	UBE2A	NKX2-5	WNT4	SNX10	EFEMP2	EIF4H	TTC26	B3GLCT	TBX1	NAA10	TLL1	GTF2IRD2	LIMK1	FKBP6	NKX2-6	RTL1	EDNRB	RFC2	NOTCH2	BRAF	IFT43	LMNA	FADD	TBL2	GATA1	TMEM270	KRAS	FBN1	WRN	GTF2I	CHD7	MED12	TCIRG1	SMG8	OTUD5	PIGO	TAOK1	MITF	CIROP	TGFBR2	CLIP2	ALDH1A2	CRTAP	PIGN	CCNQ	FGFR1	SOS1	STRA6	GPC6	SNAI2	NODAL	STX1A	TGFBR1	PPP1CB
HP_PULMONARY_ARTERY_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_ARTERY_STENOSIS	ELN	DNAJC30	BCL7B	PLXND1	POLA1	MGP	SLC2A10	MLXIPL	ZEB2	VPS37D	GATA4	LZTR1	GATA6	RPL10	TNFSF11	ARSL	NCF1	FOXF1	UBE2A	WNT4	LTBP4	SNX10	EFEMP2	EIF4H	NRAS	SKIC3	NAA10	ALDH18A1	GTF2IRD2	MEG3	LIMK1	CBL	BCOR	LTBP1	ARHGAP31	FKBP6	FBLN5	NKX2-6	RTL1	RRAS2	METTL27	PIGL	RFC2	NOTCH2	IFT43	TBL2	GATA1	TMEM270	SOS2	DLK1	KRAS	SKIC2	JAG1	WRN	GTF2I	MED12	TCIRG1	PTPN11	SPRED2	GTF2IRD1	PIGO	TAOK1	CLCN7	RRAS	MRAS	BCL11B	BUD23	CLIP2	NKX2-5	PIGN	CCNQ	RIT1	FGFR1	SOS1	RASA2	GPC6	RAF1	STX1A	BAZ1B	PPP1CB
HP_PRECOCIOUS_ATHEROSCLEROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRECOCIOUS_ATHEROSCLEROSIS	CYP27A1	LDLRAP1	PCSK9	LMNA	TNXB	LDLR	APOA5	APOB	ABCG5	ABCG8
HP_INTERMITTENT_CLAUDICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERMITTENT_CLAUDICATION	XYLT2	AGXT	JAK2	MPL	TET2	ABCC6	XYLT1	NT5E
HP_THROMBOPHLEBITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THROMBOPHLEBITIS	PROS1	MTHFR	AKT1	SERPINC1	F2	TGFB2	PROC	PTEN	PRORP	F13A1	HABP2
HP_RECURRENT_THROMBOPHLEBITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_THROMBOPHLEBITIS	MTHFR	F2	SERPINC1	TGFB2	F13A1	HABP2
HP_ARTERIAL_THROMBOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTERIAL_THROMBOSIS	STAT4	TET2	AKT1	SERPINC1	IL23R	PROS1	CALR	MEFV	SH2B3	PTEN	PIGA	FCGR2C	IL10	CCR1	HLA-DRB1	MPL	MYH7	UBAC2	HLA-B	PTPN22	JAK2	IFNGR1	P4HA2	TLR4	TP53	C4A	IL12A-AS1	CBS	THPO	KLRC4	FAS	IL12A	ERAP1
HP_ELEVATED_SYSTOLIC_BLOOD_PRESSURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_SYSTOLIC_BLOOD_PRESSURE	GNB3	PTGIS	AGT	AVPR2	ECE1	CORIN	ADD1	CYP3A5	FLT1	AGTR1	STOX1	NOS3
HP_BIPARIETAL_NARROWING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIPARIETAL_NARROWING	CEP290	AHI1	TWIST1	ARL3	MEIS2	TOPORS	KATNIP	NRAS	GATA4	OFD1	TMEM138	RPGRIP1L	CPLANE1	CUL4B	HNRNPU	TMEM237	INPP5E	TMEM216	KIAA0753	TMEM67	HYLS1	TMEM218	LIG4	KRAS	TCTN2	HRAS	CC2D2A	TUBGCP4	BRAF	TOGARAM1	CD96	PIBF1	B9D2	ARMC9	TCTN3	DHCR7	KIF7	MKS1	ARL13B	CEP41	CBY1	ZNF423	PLK4	KIF1A	MCOLN1	CEP120	TUBGCP6	MAP2K1	SUFU	FAM149B1	PTEN	CSPP1	KIAA0586	XRCC4	CEP104	TMEM231	MAP2K2	ZNHIT3	TCTN1	B9D1	NPHP1	ANKRD11	SC5D	PDE6D
HP_FLAT_FOREHEAD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLAT_FOREHEAD	LRP5	TWIST1	IARS2	KNSTRN	PIK3CD	IL11RA	FGFR2	CHST14	KCNH1	CAMK2G	COG7	EXT2	RECQL4	B4GALT7
HP_ABNORMAL_CHEEK_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CHEEK_MORPHOLOGY	BCOR	EXTL3	TBX1	PCLO	SEMA3E	ODC1	IARS1	SH3BP2	IFT122	YARS1	CLCN3	EIF2S3	HNRNPU	RPGRIP1	LMNA	GPC4	IDS	EDNRA	SIX1	NAA10	TXNDC15	RTL1	CTNND2	FLNA	B9D2	POLR1C	NKX2-5	MAP3K7	TCTN2	IFT52	SIX5	KRAS	LTBP1	TMEM107	SALL4	FGFR2	FBLN5	CTBP1	KDM6A	WAC	KLHL7	IFT140	ELN	ASXL1	STX16	CYP26C1	SPECC1L	FGF3	ARID1B	NKX2-6	TCF4	CDK5	FGFRL1	AIP	WDR26	TGDS	H4C3	TBL1XR1	IDUA	H4C9	PIK3CA	PAX1	XYLT2	SNX14	JAG1	TCTN1	HSPG2	MAP2K2	ACTG1	KCNJ2	PIGQ	HK1	CITED2	CPE	CREBBP	EEF1A2	VPS13B	EYA1	CHN1	LRP1	CEP290	EFEMP2	PPP1R15B	EXT2	SYK	TCOF1	ATP6V0A2	GDF1	STAG2	PURA	NALCN	GNAS	KIDINS220	EFTUD2	TMEM237	TUBB4A	KIF11	TMEM216	TXNL4A	HRAS	HNRNPK	NPHP3	KAT6A	KAT6B	COL2A1	DLK1	SLC37A4	POLR1D	MED12	KCNH1	KIF1A	MLXIPL	CCDC88A	SETD1A	GJA5	TFE3	B9D1	ATP7A	GNAI3	GATA6	LARS1	MOCS1	PIGN	GATA5	BICRA	TFAP2A	MOCS2	TBCE	GATA4	KDM6B	MAFB	ZNHIT3	MID1	SETD1B	HEATR3	H1-4	AUTS2	WDR19	PPP1CB	SC5D	UBE3B	CSPP1	FGFR1	SVBP	LETM1	CPLX1	CDC42BPB	SPTBN1	PIGB	NGLY1	PCNT	KIF7	KMT2E	SNRPN	KMT2D	STXBP1	IER3IP1	DTYMK	DPYD	CHD7	PRMT7	GNB2	MITF	SLC29A3	RAB23	AGL	VPS33A	CAV1	H4C5	TCTN3	GSC	AEBP1	BRAF	NSD2	LMX1B	SOX11	SALL1	MEG3	NEK9	TASP1	TMEM67	ACTB	WASHC5	ZFPM2	PUF60	ALX3	ALX1	DDB1	FN1	EIF2AK3	FLT4	SLC26A2	SF3B2	TAFAZZIN	POLR1B	EDN1	B3GLCT	CRLF1	MKS1	INTS1	SF3B4	MAPK8IP3	TRMT10A	KMT2B	IRX5	NOTCH2	AFF4	TMEM231	DPM1	ANKRD11	CCDC22	CLCF1	SLC35A2	SH3PXD2B	SEMA5A	SON	LIFR	EP300	UBE2A	ELMO2	FLNB	BMP2	SHANK3	PYCR1	MSL3	MED13L	ANK1	SIM1	PLCB4	KDR	GPC3	WDR35	PSPH	ZNF462	OCRL	SMARCA2	WLS	BRF1	ZPR1	TECPR2	LRP5	MAP2K1	PIGS	PSMC3	GPR101	FBN1	CC2D2A	DACT1	NRAS	WBP11	RPGRIP1L	TMEM260
HP_ELFIN_FACIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELFIN_FACIES	TMEM270	DNAJC30	BCL7B	BUD23	CLIP2	MLXIPL	GTF2IRD2	LIMK1	VPS37D	INSR	CYP24A1	FKBP6	GTF2I	NCF1	FARSA	HEPHL1	METTL27	GTF2IRD1	RFC2	STX1A	BAZ1B	ELN	TBL2	EIF4H
HP_RECURRENT_VIRAL_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_VIRAL_INFECTIONS	ELANE	RAG2	PNP	BTK	RNF168	MALT1	CLPB	ADA	RFX5	PGM3	STK4	NFKB2	DCLRE1C	DOCK8	RAG1	DNAJC21	IFIH1	RFXAP	KNSTRN	TYK2	DEF6	PIK3CD	RFXANK	POMP	EFL1	SRP54	BTD	FLI1	CIITA	CD8A	GATA2	SBDS	GFI1	IRF9	JAK1	IL2RA	CTPS1	IL2RG	ARHGEF1	MCM4	RALGAPA1	STAT1	TCIRG1	RMRP	NHEJ1	SP110	FCGR3A	IGHM	EPG5	ZAP70	IL7R	MAGT1	JAK3
HP_SEVERE_COMBINED_IMMUNODEFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_COMBINED_IMMUNODEFICIENCY	IL2RG	EXTL3	PI4KA	DCLRE1C	TTC7A	RAG2	LIG4	ADA	PGM3	RAG1	CHD7	BCL11B	IL7R	PRKDC	XRCC4	RMRP	AK2	MTHFD1	PNP	JAK3
HP_AGAMMAGLOBULINEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGAMMAGLOBULINEMIA	IL2RG	CDCA7	BTK	IGHM	CD79A	IKBKB	PIK3R1	BLNK	RFX5	HELLS	IGLL1	TCF3	CARD11	CD79B	TTC7A	SLC39A7	FNIP1	TIMM8A	LRRC8A	RFXANK	SPI1	RFXAP	CIITA	SH3KBP1
HP_CRANIAL_HYPEROSTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRANIAL_HYPEROSTOSIS	GJA1	IDUA	AKT1	ALMS1	ERCC4	VCP	RPS6KA3	SLC39A14	COL1A1	GNAS	TBXAS1	LRP5	DDB2	KRAS	SOST	PIK3CA	PRKAR1A	ANKH	HNRNPA2B1	XPC	XPA	SMAD4	ERCC2	CA2	THOC2	NOTCH3	FLNA	FGFR1	PTEN	LRP4	TNFRSF11A	OSTM1	HNRNPA1	PTDSS1	TNFSF11	COX4I2	SLC29A3	TCIRG1	B3GALT6	ERCC5	ERCC3	AMER1	MAN2B1	TNFRSF11B
HP_CRANIOFACIAL_DYSOSTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRANIOFACIAL_DYSOSTOSIS	ALX4	SLC25A24	FGFR2	EFTUD2	RPS26	MSX2	EDNRA	PDE4D	IL11RA	PRKAR1A	POLR1C
HP_CORONAL_CRANIOSYNOSTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORONAL_CRANIOSYNOSTOSIS	SPECC1L	TWIST1	FGFR2	GTF2E2	CTSK	SEC24D	IL11RA	ALX4	MASP1	ERF	PIGO	H4C9	FGFR1	ZEB2	CCBE1	SMO	ZIC1	EFNB1	FGFR3	POLA1	SLC25A24	TCF12	SCUBE3	RAB23	BPNT2	RNU12	CEP120	MSX2	P4HB	POR	RECQL4
HP_SAGITTAL_CRANIOSYNOSTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SAGITTAL_CRANIOSYNOSTOSIS	HNRNPK	SPECC1L	ATP6V1B2	TWIST1	TBC1D24	CDC45	FGFR2	GLIS3	RAB23	IFT122	DNMT3A	RNU12	IL11RA	KRAS	WDR19	ERF	DPF2	SON	DPH1	RECQL4	IFT43	TCF12
HP_LAMBDOIDAL_CRANIOSYNOSTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LAMBDOIDAL_CRANIOSYNOSTOSIS	ZIC1	HNRNPK	FGFR2	TWIST1	BMP4	RAB23	SEC24D	PIGT	RNU12	IL11RA	KRAS	MASP1	ERF	POR	RAC3	RECQL4
HP_SPHEROCYTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPHEROCYTOSIS	RHCE	RHD	ANK1	EPB42	SLC4A1	SPTB	RHAG	SPTA1
HP_ELLIPTOCYTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELLIPTOCYTOSIS	TRNT1	GYPC	NHLRC2	GATA1	ACSL4	AMMECR1	EPB41	SPTB	SLC4A1	SPTA1	CA2	KCNE5
HP_STOMATOCYTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STOMATOCYTOSIS	SLC4A1	RHAG	RHCE	GP1BA	RHD	GYPC	SPTA1	SLC2A1	ABCB6	GATA1	SPTB	ABCG8	EPB41
HP_POIKILOCYTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POIKILOCYTOSIS	SLC4A1	HBB	RHAG	RHD	CASK	EPB42	AMMECR1	EPB41	CALR	TRNT1	CFHR3	PKLR	SPTA1	SAR1B	CFH	CFHR1	XK	RACGAP1	SLC19A1	GATA1	G6PD	APOB	MPIG6B	ANK1	CRIPT	AMN	KIF23	KLF1	MTTP	JAK2	RHCE	GP1BA	GYPC	UMPS	ADAMTS13	CYP4F22	STEAP3	KCNN4	SLC2A1	CDAN1	SPTB	TET2	TOR1A	KCNE5	PIEZO1	NHLRC2	PANK2	UROS	ACSL4	CLPB	ABCB6	VPS13A	TMPRSS6	CAD	MPL	CDIN1	ABCG8	CA2	SC5D	CUBN
HP_FULMINANT_HEPATIC_FAILURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FULMINANT_HEPATIC_FAILURE	XIAP	SH2D1A	GFM1	KRT18	IL18BP	HADH
HP_ABNORMALITY_OF_THE_MIDDLE_EAR_OSSICLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MIDDLE_EAR_OSSICLES	ABCC6	NOTCH3	COL1A1	GJB2	IL11RA	NOG	POLR1D	EYA1	GJB6	SIX5	IDS	PSMD12	COL1A2	GDF6	MAP3K7	POU3F4	RAD21	TFAP2A	SETBP1	SIX1	ENPP1	BPTF
HP_OVERFOLDING_OF_THE_SUPERIOR_HELICES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVERFOLDING_OF_THE_SUPERIOR_HELICES	GNAI3	SALL1	FGFR2	BICRA	PLCB4
HP_ABNORMAL_MIDDLE_EAR_REFLEXES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MIDDLE_EAR_REFLEXES	OTOF	PRORP	DIAPH3	AIFM1	MPDU1
HP_DILATATED_INTERNAL_AUDITORY_CANAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DILATATED_INTERNAL_AUDITORY_CANAL	SIX1	GJB6	EYA1	POU3F4	GJB2
HP_ABSENT_BRAINSTEM_AUDITORY_RESPONSES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_BRAINSTEM_AUDITORY_RESPONSES	OTOF	ERCC6	OPA1	MOGS	SOX10	RIPOR2	ERCC8	NEFL	SPTBN4	ERCC4	TIMM8A
HP_CHRONIC_BRONCHITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_BRONCHITIS	CFTR	CARMIL2	SCNN1G	DNAAF5	ALMS1	CCDC65	RSPH4A	GUSB	DNMT3B	ODAD3	CCDC40	HYDIN	ZMYND10	ODAD2	RAC2	SCNN1A	DNAAF11	CCDC39	SPAG1	CFAP298	SCNN1B	ZBTB24	SERPINA1
HP_APLASIA_CUTIS_CONGENITA_OVER_THE_SCALP_VERTEX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_CUTIS_CONGENITA_OVER_THE_SCALP_VERTEX	BMS1	PLEC	DLL4	UBA2	MCTP2	ITGB4
HP_PERSISTENT_OPEN_ANTERIOR_FONTANELLE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERSISTENT_OPEN_ANTERIOR_FONTANELLE	GH1	DSE	CTSK	RUNX2	ATP7A	ANKRD11
HP_PROGRESSIVE_MACROCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_MACROCEPHALY	GCDH	PIK3CA	HEXB	NDUFS4	GFAP	PTEN	AKT1
HP_RELATIVE_MACROCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RELATIVE_MACROCEPHALY	VPS35L	POLR3A	SOX9	IGF2	ACAN	MEG3	LZTR1	CDKN1C	PCGF2	USP9X	SATB2	ITCH	H19	IFT81	APC2	SON	CUL4B	OBSL1	DOCK3	TRIP11	BGN	RIT1	POLE	PTDSS1	HMGA2	XYLT1	ACER3	POP1	DLK1	NF1	PLAG1	APC	SERPINH1	DPH1	LBR	TONSL	SNX14	GRB10	THRA	BRAF	NONO	RTL1	DHCR24	TNFRSF11B	SHOC2	ZMPSTE24	NXN	USP7	CEP120	LAMA5	IHH	LMNA	MRAS	FH	PPP1CB
HP_CRANIOFACIAL_ASYMMETRY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRANIOFACIAL_ASYMMETRY	MAF	CTBP1	NSD2	LETM1	CPLX1	FGFRL1
HP_CESSATION_OF_HEAD_GROWTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CESSATION_OF_HEAD_GROWTH	EIF2B4	UBE3A	PLAA	EIF2B2	OCA2	ATP10A	EIF2B1	EIF2B3	EIF2B5	SNRPN
HP_MACROCEPHALY_AT_BIRTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACROCEPHALY_AT_BIRTH	BIN1	ODC1	SLC16A2	RYR1	MYF6	PIGN	DNM2	MTMR14	FOCAD
HP_CALVARIAL_HYPEROSTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALVARIAL_HYPEROSTOSIS	IDUA	PTEN	AKT1	HNRNPA1	PRKAR1A	COX4I2	SLC39A14	HNRNPA2B1	VCP	COL1A1
HP_LARGE_POSTERIOR_FONTANELLE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_POSTERIOR_FONTANELLE	NAA10	PEX26	GPX4	TPO	LHX3	POU1F1	TG	SLC5A5	HESX1	INTU	IYD	TSHB	PAX8	DUOXA2	LHX4	DUOX2	TSHR	PROP1
HP_WIDELY_PATENT_FONTANELLES_AND_SUTURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDELY_PATENT_FONTANELLES_AND_SUTURES	ALPL	POLR3A	PEX1	MSX2	SETBP1	REN	CYP27B1	AGT	RBM10	AGTR1	VDR	SLC34A3	ACE	MED12	ZMPSTE24	LMNA	CYP2R1
HP_CRANIOFACIAL_HYPEROSTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRANIOFACIAL_HYPEROSTOSIS	ERCC2	GJA1	ERCC4	NOTCH3	FLNA	RPS6KA3	FGFR1	TBXAS1	LRP4	SOST	TNFRSF11A	PTDSS1	AKT1	DDB2	GNAS	KRAS	SLC29A3	TCIRG1	B3GALT6	ERCC5	ANKH	ERCC3	AMER1	XPC	LRP5	XPA	SMAD4
HP_BILATERAL_CHOANAL_ATRESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_CHOANAL_ATRESIA	TXNL4A	TP63	SLC37A4	DCHS1	POLR1A	FAT4	PAICS
HP_PANCREATIC_ISLET_CELL_HYPERPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATIC_ISLET_CELL_HYPERPLASIA	UCP2	ABCC8	KCNJ11	INSR	GPC4	SLC16A1	GCGR	HNF4A	FAH	DIS3L2	LBR	GPC3
HP_SCARRING_ALOPECIA_OF_SCALP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCARRING_ALOPECIA_OF_SCALP	GATA1	ITGB4	UROS	LAMA3	COL17A1	EBP	PLEC	LAMB3	GJB2	LAMC2	CLDN1	RHOA	UROD	GJB6	MBTPS2
HP_GENERALIZED_HYPERTRICHOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_HYPERTRICHOSIS	SETBP1	ATP6V1B2	SRCAP	KCNN3	KCNH1	NEU1
HP_SEVERE_PLATYSPONDYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_PLATYSPONDYLY	INPPL1	FGFR3	LRP5	PCYT1A	PAM16	EXTL3	COL2A1
HP_BEAKING_OF_VERTEBRAL_BODIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BEAKING_OF_VERTEBRAL_BODIES	COMP	FLNB	GLB1	NEPRO	GUSB	DYM	SERPINF1	PLCB3	COL2A1	PRKG2	GORAB	COL11A2	GALNS	AGA	PYCR1	EXOC6B	B3GALT6	CCN6	SH3PXD2B	RINT1	FUCA1	GNPTAB	HGSNAT	ARSK	NPR2	RSPRY1	NF1	TMCO1
HP_INCREASED_VERTEBRAL_HEIGHT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_VERTEBRAL_HEIGHT	TRPV4	OBSL1	MAN2B1	FGFR3	ITCH	CUL7	NOTCH2	CCDC8	PPP1R15B
HP_SCLEROTIC_VERTEBRAL_ENDPLATES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCLEROTIC_VERTEBRAL_ENDPLATES	ENPP1	CLCN7	DMP1	SOST	CCN6	LRRK1
HP_BICONCAVE_VERTEBRAL_BODIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BICONCAVE_VERTEBRAL_BODIES	IDUA	CBS	IFITM5	COL2A1	COL1A1	NOTCH3	SERPINF1	ZBTB20	NOTCH2	TONSL	GORAB	COL1A2	TRAPPC2	FN1	TENT5A	PYCR1	FKBP10	NANS	LRP5	ARSK	AIP	KIF22	USP8	NMNAT1	MBTPS2
HP_HYPOPLASTIC_SACRUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_SACRUM	POC1A	RPS19	TP63	TRIP11	FANCL	ROR2
HP_THORACIC_PLATYSPONDYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACIC_PLATYSPONDYLY	PRKG2	RSPRY1	COL2A1	FLNB	PLCB3	LBR
HP_ABSENT_OR_MINIMALLY_OSSIFIED_VERTEBRAL_BODIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_OR_MINIMALLY_OSSIFIED_VERTEBRAL_BODIES	VPS35L	ALPL	SLC26A2	SOX9	IFT80	DYNC2H1	BMPER	DYNC2I1	FLNB	DYNC2I2	COL2A1	LBR	TRIP11	WDR35
HP_CERVICAL_C2_C3_VERTEBRAL_FUSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVICAL_C2_C3_VERTEBRAL_FUSION	MEOX1	DKK1	ASXL2	AEBP1	GDF6	GDF3	CDH11	FLNA	AFF4	MYO18B	ASH1L
HP_BICONVEX_VERTEBRAL_BODIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BICONVEX_VERTEBRAL_BODIES	TRIP11	RNU4ATAC	COL2A1	FN1	RMRP
HP_LUMBAR_SCOLIOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LUMBAR_SCOLIOSIS	HYAL1	ATP6V1B2	TBC1D24	IDH1	ALMS1	RPL10	LONP1	ATG7	GNPTAB	COL2A1	NIN	PAPSS2	AP1G1	ASH1L
HP_DECREASED_CERVICAL_SPINE_FLEXION_DUE_TO_CONTRACTURES_OF_POSTERIOR_CERVICAL_MUSCLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CERVICAL_SPINE_FLEXION_DUE_TO_CONTRACTURES_OF_POSTERIOR_CERVICAL_MUSCLES	LMNA	SYNE1	TMEM43	SYNE2	PLEC	EMD	FHL1
HP_DECREASED_CERVICAL_SPINE_MOBILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CERVICAL_SPINE_MOBILITY	POU1F1	LHX4	LHX3	HESX1	POMT1	GLI2	FOXA2	FKRP	OTX2	CCN6	LARGE1	PROP1	TRAPPC2	GMPPB	POMT2
HP_DECREASED_FACIAL_EXPRESSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_FACIAL_EXPRESSION	ATXN8OS	DPM2	ITPR1	VPS35	GFM2	MAP3K20	SLC20A2	MYL1	SLC25A4	DUX4	TANGO2	SLC52A3	EIF2AK2	FA2H	MYH7	KCNH1	TBP	SLC16A2	ADH1C	DNAJC6	LRP12	DLK1	NOTCH2NLC	KDM6A	KMT2D	SNCA	PRNP	RIPK4	RYR1	FKRP	SPTBN4	PRDX3	PANK2	ATP1A3	SLC39A14	KCNJ6	VPS41	ASXL3	ATP13A2	PAX6	SMCHD1	TRIM32	MT-TT	FMR1	MSTO1	DNAJC13	GBA1	POMT2	UBA1	SLC6A3	RRM2B	NR4A2	CC2D1A	STAC3	SGCB	PLA2G6	GIPC1	SPR	PABPN1	PODXL	MEG3	REV3L	SLC18A2	SLC6A8	GIGYF2	TAFAZZIN	GLUD2	BCL11B	DNA2	TWNK	FBXO7	UBE3A	FTL	POLG	TNPO2	PURA	ACTA1	SELENON	LRRK2	CERT1	PLXND1	PYROXD1	EIF4G1	HOXB1	SNCAIP	CCDC174	HSPG2	PIEZO2	TPM2	OGDHL	TECPR2	MAPT	DMXL2	JAM2	VAMP1	SLC30A10	TPM3	NEB	GLE1	MYH3	MYH2	LAMA2	GMPPB	PDGFB	SCYL2	ERGIC1	SLC6A9	FKTN	KNSTRN	ATP6AP2	DNMT3B	MYL2	CLTC	PIK3CD	DCTN1	COL25A1	TXNL4A	ITGA7	MYMX	PDGFRB	POMT1	KCNK9	ATXN2	UBA5	HLA-DQB1	KLHL41	DDHD2	EBF3	POLG2	ATP6V1A	RTL1	TK2	ATP7A	PLAA	LARGE1	HACD1	TH	SYNJ1	MRE11	FRG1
HP_TALIPES_VALGUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TALIPES_VALGUS	SCN2A	CARS1	RAB3GAP2	SCN1A	SCN1B	DNMT3A	GABRD	LIFR	NONO	STX1B	HCN1	ADGRV1	EXT1	SCN9A	EXT2	GABRG2	MAN2B1	CHMP1A	HNRNPH1
HP_SHORT_FOURTH_METATARSAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_FOURTH_METATARSAL	TCF4	PIGS	PRMT7	DCHS1	EZH2	PEX7	CDC42BPB	HEPHL1	LZTFL1	PHYH	ZNF407	FAT4	RSPRY1
HP_2_3_TOE_SYNDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_2_3_TOE_SYNDACTYLY	POLR3A	MAB21L2	GNE	HOXD13	MAPRE2	ZMIZ1	MYCN	SLC12A6	CLCF1	LMBR1	IL11RA	CTCF	CSGALNACT1	FGFR1	IFT43	KCNJ2	PSMD12	NIPBL	AP1G1	RALA	DHCR7	GDF5	BCOR	FGFR2	KCNJ5	BBS7	CDC45	TTI2	KCTD1	MEIS2	IFT172	SETD2	MAN1B1	SMAD4	TXNL4A	ARCN1	TRMT5	SETD5	STAG1	SALL1	NEDD4L	DDX6	SATB1	APC2	NOG	UBE2A	SLC12A2	CNOT2	TRIO	FBXW11	MYRF	SIK3	NSD1	BMPR1B	SOX5	BMP2	H4C9	PUF60	PIGY	SHMT2	SYT1	RAI1	MED25	TBX15	DDX11	EBP	TP63	PDE6D	ALDH1A2	RAD21	WDPCP	CEP55	CERT1	FDFT1	ADNP	PHIP	HEPHL1	BHLHA9	SHANK3	KMT2B	TBCK	MEF2C	RBPJ
HP_4_5_TOE_SYNDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_4_5_TOE_SYNDACTYLY	HOXD13	MYCN	TELO2	RBBP8	MAP3K20	NSDHL	NSUN2	NECTIN4	SALL1	TMEM231	TBX15
HP_RENAL_MALROTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_MALROTATION	SIX1	STRA6	RBM8A	FIBP	EYA1	SOX11	SALL4	PAX2
HP_THICKENED_GLOMERULAR_BASEMENT_MEMBRANE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICKENED_GLOMERULAR_BASEMENT_MEMBRANE	COL4A5	DGKE	NOS1AP	COL4A4	COL4A3	CFH	GATA3	LMX1B	CEP83	CD151	RNU7-1
HP_CALCIUM_NEPHROLITHIASIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALCIUM_NEPHROLITHIASIS	SLC6A20	ADCY10	HOGA1	GRHPR	TBC1D7	OPLAH	AGXT	SLC26A1	SLC6A19	SLC34A2	SLC34A3	SLC36A2
HP_IMPAIRED_RENAL_CONCENTRATING_ABILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_RENAL_CONCENTRATING_ABILITY	CEP290	FAM20A	BSND	NPHP1	CLCNKB	CLCNKA
HP_RENAL_CORTICAL_MICROCYSTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_CORTICAL_MICROCYSTS	PEX1	NEK8	INVS	SKIC3	PEX2
HP_CROSSED_FUSED_RENAL_ECTOPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CROSSED_FUSED_RENAL_ECTOPIA	LRP4	APC	DDX59	SALL4	CDC42BPB	CTU2	KDM6A	KMT2D	WT1	DACT1
HP_ABNORMAL_RENAL_COLLECTING_SYSTEM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_COLLECTING_SYSTEM_MORPHOLOGY	SIX1	COL18A1	IARS1	FANCE	TNXB	PSMC1	FANCA	LAMA3	LAMC2	KDM6A	OTUD5	KMT2D	LAMB3	PIGY	DHCR7	SHOC2	RTTN	FANCD2	PIGA	POGZ	PIGN	TELO2	FANCC	JAG1	MAPK1	PIGL	EYA1	TP63	SUCLG1
HP_ATRIAL_FLUTTER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATRIAL_FLUTTER	TBX20	LMNA	PRKAG2	TLL1	NUP155	GATA6	SGO1	SCN5A	KCNK3	CLIC2	MYH6	CITED2	DMPK	SCN3B	TNNI3K	NKX2-5	ACTC1	GATA4	MT-CYB
HP_PAROXYSMAL_VENTRICULAR_TACHYCARDIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAROXYSMAL_VENTRICULAR_TACHYCARDIA	SCN10A	TRPM4	LMOD2	RANGRF	SCN1B	SEMA3A	GPD1L	PKP2	SCN3B	SCN5A	JUP	SCNN1A	CACNA2D1	ABCC9	KCND3	TECRL	AKAP9	KCNE5	KCNJ8	GNAI2	SLMAP	KCNE3	CACNB2	GYG1	SCN2B	HCN4	CACNA1C
HP_PERMANENT_ATRIAL_FIBRILLATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERMANENT_ATRIAL_FIBRILLATION	FLNC	KCNQ1	MYL4	KCNA5	KCNJ5	SCN3B	KCNJ2	SCN5A	KCNE2
HP_SUPRAVENTRICULAR_TACHYCARDIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPRAVENTRICULAR_TACHYCARDIA	SCN10A	SPRED1	TBX20	TRPM4	RANGRF	TLL1	NUP155	GATA6	NDUFB11	PKP2	SCN5A	LMNA	MYH6	CITED2	CACNA1S	CACNA2D1	COX7B	KCND3	NAA10	TNNI3K	AKAP9	KCNE5	NKX2-5	ACTN2	ACTC1	KCNE3	SCN2B	HCN4	SCN1B	SEMA3A	DNMT3A	FLAD1	GPD1L	SCN3B	RYR1	SCNN1A	ABCC9	BMP2	MYL2	SLC19A2	KCNJ8	SLMAP	CACNB2	GATA4	MT-CYB	CACNA1C	HCCS
HP_VENTRICULAR_TACHYCARDIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENTRICULAR_TACHYCARDIA	SCN10A	CALM2	SCN5A	CDH2	TRPM4	RANGRF	TRDN	RYR2	TANGO2	CASQ2	CALM3	CSRP3	MYH7	PKP2	JPH2	KCNJ2	MYOZ2	SLC12A3	CACNA1S	JUP	CPT2	DSP	CACNA2D1	KCND3	KCNJ5	NAA10	DSG2	TMEM43	TPM1	AKAP9	KCNE5	SLC25A20	CALM1	TECRL	KCNE3	SCN2B	HCN4	TTN	LMOD2	CTNNA3	SCN1B	SEMA3A	ABCC9	BAG5	GPD1L	SCN3B	GYG1	RYR1	SCNN1A	HLA-DRB1	NPPA	NDUFB11	MYL2	MYH6	CRYAB	KCNJ8	GNAI2	SLMAP	BTNL2	ACADVL	ACTC1	CACNB2	MT-CYB	CACNA1C
HP_PAROXYSMAL_ATRIAL_FIBRILLATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAROXYSMAL_ATRIAL_FIBRILLATION	SCN1B	GJA5	PRKAG2	SCN2B	ABCC9	CSRP3	KCNH2	HCN4	TBX5	LRP12	KCNQ1	MYL4	KCNA5	GNB2	PLN	RYR2	SCN3B	KCNJ2	SCN5A	KCNE2	TRDN	CASQ2
HP_DUODENAL_POLYPOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUODENAL_POLYPOSIS	SMAD4	BMPR1A	APC	ENG	MSH3
HP_LACTOSE_INTOLERANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACTOSE_INTOLERANCE	LCT	MTOR	MCM6	PGM3	SATB1
HP_ESOPHAGEAL_ULCERATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ESOPHAGEAL_ULCERATION	MSR1	COL7A1	MMP1	PLA2G4A	CTHRC1	ASCC1
HP_MALROTATION_OF_SMALL_BOWEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALROTATION_OF_SMALL_BOWEL	CTBP1	WNT4	CHST14	NSD2	LETM1	DSE	CPLX1	FGFRL1
HP_GASTROINTESTINAL_OBSTRUCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROINTESTINAL_OBSTRUCTION	FOXP3	SOX10	F5	SDHA	FAH	APC	HMBS	PALB2	CD55	BRCA1	SERPINA1	ECE1	PDGFRB	BRCA2	JAK2	EXT2	TGFB1	EDNRB	MITF	MVK	SLC9A3	KRAS	KCNN4	EDN3	TP53	SREBF1	JAK3	MYH11	MNX1	CFTR	MYC	CLCA4	STK11	SEMA3D	PALLD	SLC6A8	SLC26A9	RET	SDHC	CEACAM6	ERBB2	KIT	PPOX	SLC6A14	ATP7A	FCGR2A	CTLA4	MTRFR	HMOX1	GSTM3	SDHB	NRTN	CALR	NOTCH3	SMAD4	PRTN3	CTNNB1	WT1	GDNF	NOD2	ABCD1	GUCY2C	CDKN2A	PDGFRA	GCLC	ERBB3	HLA-DPB1	DCTN4	TBCE	EXT1	RABL3	HFE	SDHD	EDNRA	HLA-DPA1	SLC11A1	TNFRSF1A	MEFV	SEMA3C	CEACAM3	TTC7A	PTPN22	STX1A	EWSR1	SMO	MIF	ERCC2	CAVIN1	IL6
HP_RECURRENT_INFECTION_OF_THE_GASTROINTESTINAL_TRACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_INFECTION_OF_THE_GASTROINTESTINAL_TRACT	ELANE	FOXP3	ADAT3	CORIN	NFKBIA	GFI1	IRF9	AICDA	COG4	CD3E	TNFRSF13B	ADAM17	CD3G	SLC35C1	IL21R	CLPB	RFX5	MAN2B1	NFKB2	DCLRE1C	CARMIL2	RFXAP	TCIRG1	NBN	VPS33A	RFXANK	SP110	EGFR	SRP54	BLM	ZAP70	FLT1	CIITA	STOX1	IFNGR1	SH3KBP1	JAK3
HP_CONGENITAL_HEMOLYTIC_ANEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_HEMOLYTIC_ANEMIA	PIEZO1	KCNN4	PKLR	SLC4A1	SPTB	GYPC	SPTA1	EPB41
HP_ACUTE_MYELOID_LEUKEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_MYELOID_LEUKEMIA	ELANE	RPS29	RPS20	MBD4	RPL27	RPL35A	SH3GL1	SF3B1	KIT	CHIC2	CHEK2	MLLT10	CLPB	DDX41	MEFV	DNAJC21	RPS26	JAK2	ERBB3	RPL26	BRCA2	RPS17	NPM1	LPP	ETV6	NUP214	RPS24	EFL1	SRP54	SRSF2	GATA1	THPO	MPL	RPS10	RUNX1	SBDS	GFI1	RPS27	FLT3	TSR2	ADH5	ADA2	TERT	TET2	RPL35	SAMD9L	DKC1	GATA2	RPS28	TP53	RPS14	PICALM	MDM2	SAMD9	TCIRG1	RPS19	RPL15	DNMT3A	RPS7	RPL18	CDKN2A	CEBPA	KRAS	RPL11	BLM	RPL31	ASXL1	RPS15A	RPL5
HP_NEONATAL_ALLOIMMUNE_THROMBOCYTOPENIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_ALLOIMMUNE_THROMBOCYTOPENIA	RNASEH2C	TREX1	ITGA2B	ITGB3	LSM11	RNU7-1	IFIH1	GP1BA	CD109	SAMHD1	ADAR	RNASEH2A	RNASEH2B	GP1BB	ITGA2
HP_CONGENITAL_HYPOPLASTIC_ANEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_HYPOPLASTIC_ANEMIA	RMRP	RPS19	LPIN2	KIF23	ZNF699
HP_HYPERSEGMENTATION_OF_NEUTROPHIL_NUCLEI	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERSEGMENTATION_OF_NEUTROPHIL_NUCLEI	MTHFD1	SLC19A1	AMN	FTCD	CUBN
HP_ANISOPOIKILOCYTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANISOPOIKILOCYTOSIS	HBB	MPIG6B	CRIPT	AMN	STEAP3	CLPB	KCNN4	SC5D	CUBN	CAD
HP_HYPOCHROMIC_MICROCYTIC_ANEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOCHROMIC_MICROCYTIC_ANEMIA	HBB	SHPK	ABCB7	HBA1	BCL11A	C2orf69	TRNT1	ATRX	LPIN2	TAFAZZIN	OSTM1	HBA2	HSCB	HBG1	KARS1	TMPRSS6	HBG2	KLF1	DNAJC19	CP	ALAS2	CARD10
HP_REDUCED_FACTOR_XII_ACTIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_FACTOR_XII_ACTIVITY	MAP2K1	F12	MGAT2	BRAF	SLC37A4	PTPN11
HP_COOMBS_POSITIVE_HEMOLYTIC_ANEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COOMBS_POSITIVE_HEMOLYTIC_ANEMIA	CASP10	FAS	FOXP3	HMOX1	RASGRP1	TNFRSF4	FASLG	SOCS1	PRKCD	LAT
HP_PROLONGED_BLEEDING_AFTER_SURGERY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLONGED_BLEEDING_AFTER_SURGERY	ITGB3	LMAN1	F13A1	ITGA2B	F5	F13B	GP1BB	VWF	F10	GP9	MCFD2	GP1BA	F8	SERPINE1	F7	P2RY12
HP_INTERMITTENT_THROMBOCYTOPENIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERMITTENT_THROMBOCYTOPENIA	GP1BA	WDR1	G6PC3	TFRC	WAS
HP_REDUCED_PROTEIN_S_ACTIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_PROTEIN_S_ACTIVITY	PROS1	ALG6	DPM1	MPI	B4GALT1	GGCX	DPAGT1	ALG12
HP_AMEGAKARYOCYTIC_THROMBOCYTOPENIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMEGAKARYOCYTIC_THROMBOCYTOPENIA	MAP2K1	MPL	MECOM	BRAF	HOXA11	PTPN11
HP_IMPAIRED_ADP_INDUCED_PLATELET_AGGREGATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_ADP_INDUCED_PLATELET_AGGREGATION	HPS6	ITGA2B	MYH9	ITGB3	IKZF5	CALR	AP3B1	SH2B3	HPS5	FLI1	THPO	P2RY12
HP_CHRONIC_HEMOLYTIC_ANEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_HEMOLYTIC_ANEMIA	PKLR	ABCG8	NHLRC2	SPTB	HBB	TPI1
HP_PERINEAL_FISTULA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERINEAL_FISTULA	SYK	CDK8	ELF4	SALL1	TCTN3	KDM6A	KMT2D	CD3G	DACT1	RECQL4	TGFB1	PKP1
HP_INTERCOSTAL_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERCOSTAL_MUSCLE_WEAKNESS	TPM3	VRK1	TRPV4	MAP3K20	TPM2	HACD1	ITGA7	LAMA2	MYL2	SELENON	ACTA1
HP_INTERMITTENT_HYPERVENTILATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERMITTENT_HYPERVENTILATION	TCF4	FBP1	CASK	CNTNAP2	MECP2
HP_EPISODIC_RESPIRATORY_DISTRESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISODIC_RESPIRATORY_DISTRESS	SYT2	MT-ATP6	MT-TW	MT-ND1	MT-TV	SLC5A7	MT-ND2	SNAP25	SLC25A1	MT-ND4	MT-TK	CHAT	COL13A1	VAMP1	MT-TL1	MYO9A	MT-ND5	MT-ND6	MT-ND3	AGRN	SLC18A3
HP_CONGENITAL_LARYNGEAL_STRIDOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_LARYNGEAL_STRIDOR	PLP1	AGTPBP1	EXOSC8	VRK1	EXOSC9	EXOSC3	SLC25A46	NFASC
HP_RESPIRATORY_FAILURE_REQUIRING_ASSISTED_VENTILATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESPIRATORY_FAILURE_REQUIRING_ASSISTED_VENTILATION	GNPTAB	TICAM1	TFG	IGHMBP2	TBK1	SMPD1	CSF2RB	ARSL	MYH11	TSEN54	CSF2RA	PRIM1	SLC25A46	AHDC1	TRAF3	ALAD	TLR3	TBCD	HPDL	GAA	USP18	NDUFAF8	TK2	DPYD	UNC93B1	BCHE	MTM1	POLR1B	MT-TE	TRMU	PRPS1
HP_INTERMITTENT_EPISODES_OF_RESPIRATORY_INSUFFICIENCY_DUE_TO_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERMITTENT_EPISODES_OF_RESPIRATORY_INSUFFICIENCY_DUE_TO_MUSCLE_WEAKNESS	SYT2	SELENON	CHRNA1	SLC5A7	MYH7	SNAP25	SLC25A1	TTN	CHAT	COL13A1	VAMP1	MYO9A	AGRN	SLC18A3
HP_ELEVATED_PULMONARY_ARTERY_PRESSURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_PULMONARY_ARTERY_PRESSURE	NOD2	EOGT	MT-ND4	TBX20	COX5A	MGP	GJA1	TERT	ARSB	MT-ND5	ALMS1	ABCC6	GATA6	HLA-DRB1	ABCD4	CTCF	TNFSF11	KCNK3	FOXF1	CCN2	CITED2	MYH11	STAT1	SFTPB	PDSS1	FIG4	ZNF699	COLQ	NOTCH1	IPO8	MYMK	CCR6	MEG3	IL12B	VPS33A	CAV1	MT-CO1	MLX	RPL3L	KRAS	CACNA1C	KIAA0319L	EIF2AK4	SFTPA2	MYBPC3	THPO	DLL4	COX6B1	SFTPC	ACVRL1	DLK1	KRT18	COX7B	MT-TH	COL1A1	MT-TL1	FGFR1	RBPJ	ARHGAP31	GDF2	GBA1	HLA-B	ATP13A3	G6PC3	PRIM1	CHST3	DOCK6	ZMPSTE24	CLCN7	IRF5	NFIX	SMAD4	ATP5F1A	FGFR3	SLC25A24	HSPG2	PPCS	ACTA2	VAC14	VCL	AFF4	BANF1	LIPT1	MMACHC	SMAD9	CACNA1D	TLL1	BTNL2	BMPR2	MYH7	LAMB2	LIFR	UBE2A	COL1A2	MYH6	LAMA2	SNX10	MT-CO2	TTC26	IDUA	NKX2-1	NAA10	JAK2	DEF6	SARS2	NKX2-5	NDUFB10	FLNA	RTL1	ACTC1	MT-TF	NF1	MPL	NFU1	SLC29A3	PAM16	COX8A	TOM1	MT-ND6	COG1	SMARCAL1	FOXP1	ENG	TCIRG1	HBB	PGM1	SLC37A4	MED12	MED25	VHL	SCARB2	MT-TS2	ALDH1A2	FBN1	PIGN	MT-CO3	MUC5B	TBX4	MT-TW	TRRAP	CA2	MT-TQ	IL6ST	GATA4	LMNA	ENPP1	NDUFA8	MT-ND1	IKBKG
HP_SEVERE_LACTIC_ACIDOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_LACTIC_ACIDOSIS	TSFM	SLC25A4	NDUFS4	SLC25A26	BCS1L	RRM2B	PDHA1	PDSS2	MT-TE	COQ2	TRMU	COX16	MT-TT
HP_MATURITY_ONSET_DIABETES_OF_THE_YOUNG	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MATURITY_ONSET_DIABETES_OF_THE_YOUNG	PDX1	HNF1A	APPL1	CEL	INS	DLK1	ABCC8	MEG3	ZFP57	RTL1	KLF11	PAX4	GCK	KCNJ11	PCBD1	HNF1B	BLK	HYMAI	HNF4A	NEUROD1	PLAGL1
HP_BICARBONATE_WASTING_RENAL_TUBULAR_ACIDOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BICARBONATE_WASTING_RENAL_TUBULAR_ACIDOSIS	EHHADH	GATM	SLC34A1	NDUFAF6	SLC4A4
HP_EPISODIC_METABOLIC_ACIDOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISODIC_METABOLIC_ACIDOSIS	MMUT	MCCC1	ACADS	NFU1	CTNS
HP_HYPOPHOSPHATEMIC_RICKETS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPHOSPHATEMIC_RICKETS	ENPP1	NDUFAF6	ABCC6	DMP1	SLC34A1	KRAS	EHHADH	FAH	POLRMT	SLC34A3	FGF23	NAB2	STAT6	GATM	HRAS	NRAS	HNF4A	PHEX	CLCN5	CTNS
HP_ABNORMAL_MAGNESIUM_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MAGNESIUM_CONCENTRATION	FOXP3	PLVAP	ALDOB	CLCNKB	CLDN19	CASR	ATP1A1	KCNJ10	POLRMT	KCNJ18	CACNA1S	CNNM2	SLC12A3	DBH	TBCE	CLDN10	GCM2	BSND	GNB2	KCNJ1	CLDN16	PCBD1	SARS2	EGF	FXYD2	AP2S1	TRPM6	GNA11	TIAM1	GABRA3	CLCNKA	CTNS
HP_HYPERPHENYLALANINEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPHENYLALANINEMIA	QDPR	PCBD1	GCH1	PTS	PAH
HP_ABNORMAL_ORAL_GLUCOSE_TOLERANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ORAL_GLUCOSE_TOLERANCE	HNF4A	KCNJ11	KLF11	BLK	ABCC8	SLC5A1	HNF1A	PAX4	GCK	PDX1	INS	APPL1	NEUROD1	CEL
HP_ORTHOSTATIC_HYPOTENSION_DUE_TO_AUTONOMIC_DYSFUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORTHOSTATIC_HYPOTENSION_DUE_TO_AUTONOMIC_DYSFUNCTION	NTRK1	LEP	LEPR	VPS35	ARSA	LRRK2	LMNB1	COQ2	GSN	EIF4G1	TTR	GBA1	PSAP	DNAJC13	SNCA	GIGYF2
HP_PULMONARY_ARTERY_DILATATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_ARTERY_DILATATION	TGFBR2	TTC26	IPO8	TLL1	ADAMTS19	COL5A1	FBN1	FOXF1	COL3A1	BGN	ACTA2	EFEMP2	TGFBR1
HP_ABNORMALITY_OF_THE_PULMONARY_VASCULATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PULMONARY_VASCULATURE	EOGT	PLXND1	MGP	DNAJB13	VPS37D	AASS	RPL10	ARSL	HES7	COL3A1	BGN	GPC4	SFTPB	LTBP4	GDF1	DNAAF4	RSPH3	IPO8	ALDH18A1	MEG3	TUBG1	SOX10	CBL	BCOR	LTBP1	STK36	FBLN5	ODAD4	RRAS2	METTL27	PIGL	DLL4	CFAP300	ELN	WNT3	MYRF	CCDC65	TBX5	PTPN11	ZIC3	GTF2IRD1	AFF4	ZEB2	DOCK6	MMP21	RRAS	MRAS	BCL11B	TMEM94	FOXJ1	NME8	DGCR6	RIT1	PKD1L1	JAG1	CFAP53	WT1	ACTA2	ODAD2	DNAH1	DNAH5	KITLG	CDC42	TRAIP	BCL7B	SPAG1	SLC2A10	MLXIPL	ADAMTS19	ACVR2B	BMPR2	NOTCH1	MYH7	NCF1	NIPA1	NKX2-5	WNT4	EFEMP2	DNAH11	CFAP221	RSPH4A	TBX1	NEK10	SMC1A	TLL1	HYDIN	ARHGAP31	GATA6	FKBP6	SPEF2	CFAP298	NKX2-6	RSPH1	EDNRB	RFC2	NOTCH2	IFT43	DVL3	TBL2	GATA1	PORCN	KRAS	MCIDAS	RSPH9	FBN1	RAF1	WRN	GTF2I	GAS2L2	CHD7	DNAAF2	MED12	SMG8	PIGO	TAOK1	DNAAF5	MITF	CLIP2	ALDH1A2	CRTAP	PIGN	FGFR1	DHCR24	STRA6	GPC6	MESP2	EIF2AK4	ENG	SNAI2	STX1A	PPP1CB	ZMYND10	DNAJC30	ITPR1	ESS2	GATA4	DGCR2	DLL3	TNFSF11	FOXF1	LRRC56	GAS8	NRAS	SKIC3	OFD1	CAV1	PAX6	DNAL1	FLT4	PLD1	CRELD1	SOS2	ACVRL1	DLK1	SKIC2	SMAD4	DGCR8	RBPJ	RSPO2	DNAAF3	SPRED2	FOXC2	NIPA2	AGGF1	CITED2	DNAAF1	CLCN7	ODAD3	BUD23	CCDC40	TYR	COL5A1	RASA2	BAZ1B	DNAI2	DNAH9	POLA1	LZTR1	TTC12	DNAAF11	LIFR	UBE2A	RPGR	DNAI1	SNX10	EIF4H	TTC26	B3GLCT	NAA10	GTF2IRD2	LIMK1	RTL1	GPC3	BRAF	LMNA	FADD	LFNG	CCDC103	TMEM270	CCNO	RIPPLY2	TCIRG1	DNAAF6	CCND1	OTUD5	CIROP	TGFBR2	SMAD2	VHL	CCNQ	SOS1	DRC1	CCDC39	ODAD1	NODAL	TGFBR1	RPS15A	TMEM260
HP_VASCULAR_CALCIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VASCULAR_CALCIFICATION	TOM1	GATA5	SMAD6	PDGFRB	ABCC6	SLC20A2	ENPP1	ABCG5	IFIH1	LDLRAP1	GBA1	STAT1	RNASEH2A	APOB	HGD	ABCG8	PDGFB	ERCC8	RNASEH2C	TREX1	LSM11	RNU7-1	NT5E	ERCC6	NOTCH1	PCSK9	LDLR	NKX2-5	SLC34A2	GALNT3	SAMHD1	ADAR	RNASEH2B
HP_PULMONARY_ARTERY_ATRESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_ARTERY_ATRESIA	DVL3	EOGT	PLXND1	GDF1	ESS2	DGCR2	ACVR2B	NOTCH1	DGCR8	CHD7	RBPJ	ARHGAP31	NKX2-5	OTUD5	DOCK6	CIROP	MMP21	TBX1	TMEM94	DGCR6	FLT4	PKD1L1	STRA6	NKX2-6	FADD	PLD1	NODAL	DLL4	CRELD1
HP_VENOUS_THROMBOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENOUS_THROMBOSIS	PROS1	PROC	THBD	CD55	IL10	TET2	UBA1	NOTCH1	HLA-B	TLR4	PRSS2	TP53	GNAQ	C4A	SPINK1	THPO	IL12A	JAK2	STAT4	CASR	IL23R	SERPINC1	CALR	MEFV	PTEN	KCNN4	GDF2	MPL	AGGF1	CTRC	F13A1	IDH1	AKT1	SMAD4	PDE4D	FGA	PMM2	PDGFRA	CTLA4	ERAP1	ACVRL1	HBB	MMACHC	CFTR	PRTN3	PIGA	PIEZO1	CCR1	PRSS1	PRKAR1A	MTHFR	MTRR	IFNGR1	TGFB2	HLA-DPB1	CPA1	KIF11	CBS	KLRC4	F5	FGB	FGG	F9	PIGM	SH2B3	MET	HLA-DPA1	PTH1R	ENG	PGM1	CTNNB1	UBAC2	EPOR	SAA1	SLC4A1	F2	PTPN22	EPAS1	IDH2	SERPIND1	ALG6	IL12A-AS1	PRORP	F8	FAS	HABP2
HP_PULMONARY_ARTERY_ANEURYSM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_ARTERY_ANEURYSM	TGFBR2	IPO8	COL3A1	BGN	EFEMP2	TGFBR1	COL5A1
HP_AORTIC_ANEURYSM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AORTIC_ANEURYSM	CHRNG	SEMA3E	VPS37D	FOXE3	COL3A1	PKD2	FBN1	TMTC3	LMNA	CASZ1	IPO8	RNASEH2C	ALDH18A1	RNU7-1	TPM2	SETD2	TGFB2	ERCC6	TGFBR1	PLOD1	SPEN	ACTA2	METTL27	SKI	SMAD2	SPECC1L	HSPG2	ATP2B1	MAT2A	ARFGEF2	HLA-DRB1	GTF2IRD1	TGFBR2	ZMPSTE24	FBLN5	ENG	NKAP	IFNG	THSD1	MYH11	FBN2	RNASEH2B	FLNA	SMAD6	BCL7B	NPR3	SLC2A10	MLXIPL	SMAD3	ADAMTS19	COL1A1	NOTCH3	LOX	NCF1	CRKL	HGD	BRF1	ERCC8	RIN2	PRDM16	LUZP1	PGM3	C12orf57	FKBP6	TGFBR3	ANGPTL6	RFC2	HNRNPK	EFEMP2	DPH5	MED12	TBL2	APC2	HEY2	TGFB3	TAB2	PDPN	PRKG1	GTF2I	ATP6V1A	KCNAB2	CLIP2	TREX1	ALDH1A2	AEBP1	PIGN	PKD1	KANSL1	MAPK1	PTEN	ARF1	NKX2-5	MID1	STX1A	PPP1CB	GATA5	NOD2	DNAJC30	MYPN	ELN	SPTBN1	NEDD4L	RERE	COL5A2	BCR	GABRD	RNASEH2A	MYLK	CHD7	IL12B	MLX	PRKCZ	GANAB	SMAD4	NSD1	DNMT3A	NSMCE2	CHST3	MFAP5	MAP1B	HLA-B	ROBO4	RAI1	PTPN22	BUD23	TSC1	LSM11	MMP23B	NOTCH1	SLC25A24	ALG5	BAZ1B	AFF4	FLNB	DNAJB11	GJA5	UBE4B	EIF4H	B3GALT6	TSC2	GTF2IRD2	LIMK1	IFIH1	GJA8	SAMHD1	ADAR	ERMARD	CARS1	TMEM270	THSD4	FMR1	KCNH1	BICC1	B3GAT3	MYH3	COL1A2	IFT140	P4HA2	COL5A1	ALG9	TPM3	NODAL
HP_ACCELERATED_ATHEROSCLEROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACCELERATED_ATHEROSCLEROSIS	XYLT2	LMNA	ABCA1	CELA2A	CYP7A1	ABCC6	XYLT1	APOE
HP_DILATATION_OF_THE_CEREBRAL_ARTERY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DILATATION_OF_THE_CEREBRAL_ARTERY	GANAB	TGFB3	DNAJB11	SMAD3	LOX	SPTBN1	GAA	FOXE3	COL5A2	BGN	PKD2	COL4A1	STAT1	MYLK	TGFBR1	IPO8	PRKAR1A	PLOD3	COL3A1	MFAP5	TGFB2	THSD1	TGFBR3	ANGPTL6	NF1	PCNT	SMAD2	ACTA2	MYH11	TOM1	HEY2	FARSB	PRKG1	BICC1	GGCX	MAT2A	TONSL	PDE11A	FBN1	TGFBR2	ENG	COL1A1	IFT140	COL5A1	PKD1	ALG9	ELN	SMAD4	ALG5
HP_ARTERIOVENOUS_FISTULA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTERIOVENOUS_FISTULA	RASA1	COL1A1	EPHB4	SMAD4	COL5A1	ENG	GDF2	COL5A2	COL3A1	AGGF1	ACVRL1
HP_VASCULAR_TORTUOSITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VASCULAR_TORTUOSITY	MT-CYB	NEK1	SLC2A10	SMAD3	MT-ND4L	IPO8	MT-ND5	APP	RASA1	TGFBR2	FBLN5	MT-ND4	IDH1	TGFB2	MT-ND1	MT-ATP6	COL5A1	SELENOI	MT-CO3	MT-ND6	TGFBR1	MT-ND2	DNAJC30	ATP7A	EFEMP2	NT5E
HP_PERIPHERAL_ARTERIAL_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_ARTERIAL_STENOSIS	HEY2	TGFB3	PRKG1	LOX	SMAD2	MAT2A	APOE	ABCG5	FOXE3	LDLRAP1	IDS	FBN1	APOB	MYLK	ABCG8	TGFBR1	JAK2	ABCC6	MFAP5	TGFB2	ELN	AGXT	MYH11	LMNA	PCSK9	LDLR	SMAD4	THPO	TGFBR2	MPL	ACTA2	SMAD3
HP_THORACIC_AORTA_CALCIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACIC_AORTA_CALCIFICATION	GATA5	NOTCH1	IFIH1	NKX2-5	SMAD6
HP_CALCIFICATION_OF_THE_AORTA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALCIFICATION_OF_THE_AORTA	GATA5	SMAD6	ABCC6	ENPP1	ABCG5	IFIH1	LDLRAP1	RNASEH2A	APOB	ABCG8	RNASEH2C	TREX1	GBA1	LSM11	RNU7-1	NOTCH1	PCSK9	LDLR	NKX2-5	SLC34A2	SAMHD1	ADAR	RNASEH2B
HP_PERIPHERAL_PULMONARY_ARTERY_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_PULMONARY_ARTERY_STENOSIS	ELN	TMEM270	DNAJC30	BCL7B	SKIC2	MLXIPL	VPS37D	JAG1	GTF2I	NCF1	UBE2A	GTF2IRD1	PIGO	TAOK1	LTBP4	EFEMP2	EIF4H	SKIC3	MGP	NAA10	BUD23	ALDH18A1	CLIP2	GTF2IRD2	LIMK1	PIGN	CCNQ	BCOR	FGFR1	LTBP1	FKBP6	FBLN5	METTL27	PIGL	RFC2	NOTCH2	STX1A	BAZ1B	IFT43	TBL2	PPP1CB
HP_ASCENDING_TUBULAR_AORTA_ANEURYSM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASCENDING_TUBULAR_AORTA_ANEURYSM	THSD4	SMAD3	ADAMTS19	GJA5	FBN1	COL3A1	ATP6V1A	HLA-B	ZMPSTE24	FBLN5	LMNA	BRF1	TGFBR2	ACTA2	B3GALT6	IPO8	TGFB2	IL12B	MLX	MYH11	FMR1	GJA8	NODAL	MED12	FLNA
HP_PULMONARY_ARTERY_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_ARTERY_HYPOPLASIA	MMP21	TRAIP	NKX2-6	MGP	PLXND1	ALDH1A2	AASS	MYH7
HP_ELEVATED_MEAN_ARTERIAL_PRESSURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_MEAN_ARTERIAL_PRESSURE	GNB3	PTGIS	AGT	ECE1	ADD1	CYP3A5	AGTR1	NOS3
HP_ERLENMEYER_FLASK_DEFORMITY_OF_THE_FEMURS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERLENMEYER_FLASK_DEFORMITY_OF_THE_FEMURS	PSAP	ABCC9	ANKH	CLCN7	CSF1R	PLEKHM1	GBA1	TCIRG1
HP_KNEE_DISLOCATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KNEE_DISLOCATION	TTC26	SLC35A3	FLNB	EXOC6B	XYLT1	SLC10A7	RYR1	AEBP1	SYNE1	CHST3	B3GAT3	HNRNPH1
HP_METAPHYSEAL_SCLEROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METAPHYSEAL_SCLEROSIS	ANAPC1	KIF22	COL2A1	CENPE	ACP5	SBDS	MMP13	RECQL4	CTC1	DNAJC21	SRP54	COL10A1
HP_MESOMELIC_LEG_SHORTENING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MESOMELIC_LEG_SHORTENING	GLI3	FLNA	NEK1	EIF4A3	TBX15
HP_RHIZOMELIC_ARM_SHORTENING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RHIZOMELIC_ARM_SHORTENING	GPX4	DYM	CSPP1	FZD2	KIAA0586	FGFR2	MYSM1	SLC26A2
HP_SLENDER_LONG_BONES_WITH_NARROW_DIAPHYSES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLENDER_LONG_BONES_WITH_NARROW_DIAPHYSES	B3GALT6	ATP6V0A2	VAC14	FIG4	HNRNPH1
HP_APLASIA_HYPOPLASIA_OF_THE_CAPITAL_FEMORAL_EPIPHYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_CAPITAL_FEMORAL_EPIPHYSIS	MATN3	EXTL3	PIK3C2A	PLOD3	DYM	GLB1	HS2ST1	CANT1	COMP	KIF22	TRAPPC2	COL11A2	COL2A1	CDC6	IFT140	ADAMTSL2	SMARCAL1	CHST3
HP_DIAPHYSEAL_THICKENING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIAPHYSEAL_THICKENING	IDUA	SOST	SLC35D1	INPPL1	LRP5	TBXAS1	IDS	LRP4	LBR	SHOX	RMRP	PTDSS1	GUSB
HP_SHORTENING_OF_ALL_PHALANGES_OF_THE_TOES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORTENING_OF_ALL_PHALANGES_OF_THE_TOES	SOX9	NOG	KCNH1	VAC14	TRPV4	PIGF	FIG4	ARSL
HP_PROXIMAL_RADIO_ULNAR_SYNOSTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_RADIO_ULNAR_SYNOSTOSIS	CHSY1	B3GALT6	HOXA11	FGFR2	TWIST1	FGFR3
HP_IRREGULAR_CAPITAL_FEMORAL_EPIPHYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRREGULAR_CAPITAL_FEMORAL_EPIPHYSIS	TRPV4	PEX5	UFSP2	ADAMTSL2	RNU4ATAC	COL9A1
HP_SYNOSTOSIS_OF_CARPAL_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNOSTOSIS_OF_CARPAL_BONES	BMPR1B	FLNA	FGFR2	SHH	MACROH2A1	GDF5	HOXA13	NOG	MAP3K7	SALL4	LMBR1	PITX1	DYNC2LI1	LRP4	GLI1	APC	ESCO2	BHLHA9	NXN	PAX3	ROR2	EVC	PRKACA	EVC2	SMOC1	PRKACB
HP_METAPHYSEAL_SPURS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METAPHYSEAL_SPURS	DYNC2H1	ATP7A	RTL1	DLK1	TRAPPC2	MEG3	COL2A1	MATN3	PCYT1A
HP_HYPEREXTENSIBILITY_AT_WRISTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPEREXTENSIBILITY_AT_WRISTS	COL6A3	PYCR2	COL12A1	HYAL1	COL6A2	RNF13	COL6A1
HP_KNEE_OSTEOARTHRITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KNEE_OSTEOARTHRITIS	PRG4	PTPN2	IL2RA	CD247	MMP13	SMAD3	IL2RB	COL9A2	COL2A1	COL11A1	STAT4	PTPN22	TRAPPC2	ANKRD55	SMAD2
HP_ABNORMAL_METAPHYSEAL_TRABECULATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_METAPHYSEAL_TRABECULATION	VDR	PORCN	DKC1	NOTCH2	PLCB3	LIFR	NPM1	NHP2	TNFRSF11A	NOP10	PARN	TINF2	WRAP53	TERT	TRPV4	SLC29A3	TCIRG1	RTEL1	AMER1	USB1	TYMS	CTC1	TERC	TNFRSF11B
HP_HIGH_FREQUENCY_HEARING_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_FREQUENCY_HEARING_IMPAIRMENT	MYH9	POLRMT	DSPP	AP1S2	GJB3	RPGR	LMX1A	SMPX
HP_ABNORMALITY_OF_THE_VERTEBRAL_ENDPLATES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_VERTEBRAL_ENDPLATES	POLR3A	COMP	ENPP1	SLC10A7	COL9A3	DMP1	DYM	ZBTB20	CCN6	TONSL	SLC39A13	GORAB	LOXL3	ACP5	GNPAT	B3GALT6	TRAPPC2	EIF2AK3	PAPSS2	CHST3	PDE4D	COL9A1	FN1	TNFRSF11A	COL10A1	CLCN7	COL11A1	EXOC6B	NANS	COL2A1	IDH1	SOST	LRRK1	KIF22	SLC29A3	RNU4ATAC	TCIRG1	COL9A2	MMP13
HP_ABNORMAL_SACRUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SACRUM_MORPHOLOGY	DNAJC30	ERF	NSUN2	CTCF	DVL1	LETM1	ODC1	CPLX1	HLA-B	VPS37D	NSD2	WNT7A	SETBP1	HAAO	TBX6	FUZ	AFF3	LBR	TBXT	RET	PDGFRB	SMG9	ZNF699	TWIST2	RTTN	GNB2	MEOX1	CAPN15	RPS19	RAB23	NDUFB11	H4C5	HNRNPK	SETD2	EXTL3	FUCA1	PAFAH1B1	AEBP1	CTBP1	COLEC10	METTL27	CAMK2G	DVL3	FZD2	SLC26A2	SPOP	TCF4	MNX1	HIC1	ARID1B	ENPP1	KCNK9	DMP1	COX7B	GREB1L	CDK10	NSD1	WNT5A	FGFRL1	MAN2C1	RPL10	VANGL1	SCARF2	HCCS	ZIC3	LIG4	GTF2IRD1	GNS	SETD5	MED12	CCL2	DCHS1	KIF15	BUD23	POC1A	WNT9B	FANCL	TAF1	TBX1	FGFR3	OTUD6B	FGF20	ASXL1	BAZ1B	TP63	RMRP	ELN	FANCB	BCL7B	POLA1	MLXIPL	WNT4	FGFR2	NADSYN1	NOTCH3	NCF1	HOXA13	SUGCT	B9D2	PSMD12	GDF6	DHCR7	KANSL1	EIF4H	SHANK3	B3GLCT	GTF2IRD2	PHEX	LIMK1	USP9X	FKBP6	DHPS	ANK1	DYRK1A	NCAPG2	NXN	CD96	FAT4	RFC2	KMT2A	PAM16	TBL2	APC2	TMCO1	TMEM270	YWHAE	WLS	BAP1	PRR12	FANCF	ITGA8	GTF2I	MASP1	BMPER	PIGG	RUNX2	TNFRSF1A	TRIP11	COL2A1	EBP	DEAF1	FLNB	CLIP2	VANGL2	GDF3	SRD5A3	TBX4	HOXD13	NELFA	GFRA1	PTH1R	NODAL	ROR2	STX1A	LIFR
HP_ABNORMAL_INTERVERTEBRAL_DISK_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_INTERVERTEBRAL_DISK_MORPHOLOGY	PPP1CB	MT-TL1	SMAD3	TPRKB	COL2A1	LTBP3	DLL3	WDR73	PLCB3	TP53RK	NUP133	HES7	SHOC2	RRM2B	LAGE3	ANKH	HGD	MAP3K7	RNU4ATAC	NT5E	EXTL3	TRPV4	TMEM53	TNFRSF11B	SLC26A2	OSGEP	WDR4	SMAD2	LFNG	CHST3	RIPPLY2	ACP5	TRAPPC2	FN1	COL9A1	XYLT2	MT-ATP8	TBX1	MATN3	HOXD13	MESP2	LMNA	NUP107
HP_ABNORMALITY_OF_THE_ACHILLES_TENDON	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ACHILLES_TENDON	ADAT3	SGCA	CRPPA	FKRP	MYOT	ACTA1	CYP27A1	TMEM43	ABCC9	POMT1	NSUN2	NGLY1	ARL6IP1	KL	HGD	HINT1	GAN	FKTN	PRKCG	SLC39A14	TTN	LMNA	ZC4H2	BICD2	OPA1	PLEC	COL6A2	EMD	SLC12A6	SYNE2	SGCG	HRAS	ALS2	DMD	FHL1	ABHD12	GNS	PTRH2	SLC25A4	COL6A3	LARGE1	POU3F4	LMX1B	KRT1	COL6A1	PYROXD1	GJB1	SYNE1	COL12A1	MT-TE	KY	JAG2	TFG
HP_ABDOMINAL_AORTIC_ANEURYSM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABDOMINAL_AORTIC_ANEURYSM	HEY2	TGFB3	SMAD3	PRKG1	LOX	SMAD2	MAT2A	NSMCE2	FOXE3	HLA-DRB1	FBN1	HLA-B	MYLK	TGFBR2	TGFBR1	PTPN22	P4HA2	MFAP5	TGFB2	ELN	SMAD4	ACTA2	MYH11
HP_AORTIC_ARCH_ANEURYSM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AORTIC_ARCH_ANEURYSM	GATA5	TMEM270	DNAJC30	HSPG2	BCL7B	MLXIPL	KCNH1	SEMA3E	VPS37D	PDPN	SMAD6	GTF2I	NCF1	RERE	GTF2IRD1	GABRD	KCNAB2	UBE4B	CASZ1	EIF4H	TGFBR2	CHD7	BUD23	CLIP2	PRDM16	GTF2IRD2	LUZP1	LIMK1	LOX	MMP23B	FKBP6	PRKCZ	SPEN	NOTCH1	METTL27	NKX2-5	ACTA2	RFC2	STX1A	BAZ1B	SKI	ELN	TBL2
HP_SUPRAVENTRICULAR_ARRHYTHMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPRAVENTRICULAR_ARRHYTHMIA	SPRED1	TBX20	LMNA	NUP155	GATA6	SLC25A4	MYPN	CSRP3	KCNJ5	KCNK3	PKP2	TMEM43	MYOZ2	LRP12	CITED2	COL4A1	DES	TNNC1	DMPK	GJA5	GATA5	AKAP9	MT-ATP6	DTNA	EMD	KCNH2	SYNE2	ANK2	GNB2	SCN2B	HCN4	KCNJ2	TTN	TNNI3	RRM2B	TNNT2	CACNA1C	SEMA3A	DNMT3A	FHL1	FLAD1	PSEN2	SCN3B	TBX5	FLNC	DBH	MFAP5	NPPA	KCNQ1	SCN5A	APRT	TWNK	BMP2	MYL2	SLC19A2	SLMAP	SYNE1	POLG	ACTC1	CACNB2	KCNA5	SLC4A3	CASQ2	SCN10A	SCN1B	TRPM4	RANGRF	SMAD3	PRKAG2	TLL1	ABCC9	NDUFB11	KIF20A	MYH6	NKX2-5	MYL4	CACNA1S	CACNA2D1	SCN4B	COX7B	KCND3	XK	NAA10	TNNI3K	TPM1	KCNE5	TTR	NEXN	ACTN2	KCNE3	PLN	TAB2	LMOD2	SGO1	CLIC2	GPD1L	POLG2	RYR1	SCNN1A	MYH7	RYR2	KCNJ8	CDH23	NODAL	GATA4	CAVIN1	MT-CYB	FHOD3	GATAD1	KCNE2	TRDN	HCCS	CIZ1
HP_ELEVATED_DIASTOLIC_BLOOD_PRESSURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_DIASTOLIC_BLOOD_PRESSURE	GNB3	PTGIS	AGT	ECE1	CORIN	ADD1	KCNMB1	CYP3A5	FLT1	AGTR1	STOX1	NOS3
HP_ABNORMAL_CARDIAC_ATRIUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CARDIAC_ATRIUM_MORPHOLOGY	MKKS	KAT6B	FANCB	VPS37D	ABCD4	CTCF	SPATA5	HAAO	ARSL	RARB	UBE2T	CITED2	GPC4	RIT1	GJA1	MYL2	LTBP4	ZNF699	STK4	MYOCD	COL11A1	FKTN	NOTCH1	RSPH3	IPO8	GATA5	IDH1	SMARCB1	WASHC5	TUBG1	PTPN11	KRAS	CHRM3	SMARCE1	SETD2	STK36	RPS24	PGAP1	CFAP300	TNNI3	MEGF8	NSD2	MAGEL2	SPECC1L	DHCR7	FBXW11	RPS27	COX7B	ATP2B1	GLI3	GP1BB	ADA2	SMARCA4	CCDC65	SMARCA2	UQCRC2	TGDS	ATP6V1E1	ZIC3	RPS28	XYLT2	ZMPSTE24	RREB1	KAT6A	TBX20	NKAP	MMP21	MED12	STAMBP	LARP7	SMC1A	KDM5B	LAMA5	ARID1B	VPS33A	WT1	PALB2	DNAH1	DNAH5	RPS29	ALG12	CREBBP	CFC1	ZDHHC9	LZTR1	SPAG1	MLXIPL	ZEB2	BRCA2	H3-3B	ASXL2	MTX2	LMNB1	RPL35A	TRIP13	NIPA1	PIGN	PIEZO1	HSPA9	FGFR3	YY1	EPHB4	AGO2	CFAP221	TBX1	SCUBE3	PPP2R5D	PACS1	PIGF	GATA6	LONP1	C2CD3	FKBP6	NPHP3	VPS33B	KIF11	GATA4	RAD51C	ACTC1	NCAPG2	HRAS	PQBP1	HNRNPK	DPH5	APC2	RPL5	ARID1A	MCIDAS	POLR3A	TRIO	FANCF	MAD2L2	ATN1	GAS2L2	CHD7	FANCA	MMP14	PIGO	ATP6V1A	MED13L	DNAAF5	PRRX1	PRDM13	CLIP2	BRIP1	EVC2	FIG4	FOXF1	KANSL1	TRRAP	GPC6	RFWD3	SMARCD1	DPF2	MID1	ROR2	EXT2	MYPN	PPP1CB	HCCS	RAD21	TBX5	PCGF2	LETM1	CPLX1	BUB3	TMEM147	CSGALNACT1	SLC38A3	GAS8	SKIC3	OFD1	GPX4	CDC45	RPL26	IGF1R	UBR7	MEIS2	KMT2D	DSE	SALL1	DOHH	BRCA1	UBE3B	TASP1	EFTUD2	TNNT2	RAC1	CDK10	NSD1	FOXC1	DNMT3A	KIAA0586	FLNC	GPC3	NIPA2	FANCI	SCN5A	DNAAF1	ODAD3	RPS19	B3GLCT	WDR37	CDK13	CCDC22	CTU2	PRKACB	VAC14	COMT	MRPL3	ASXL1	BAZ1B	DNAI2	RPS15A	AFF4	ELN	ZNF341	DVL3	CDK8	SCN1B	FLNB	POLA1	SLC35A2	EP300	SEC24C	TTC12	KDM6A	MOGS	STRADA	RPGR	SMAD3	SON	DNAI1	EIF4H	PIGT	NDE1	NAA10	ERCC4	FGF13	SALL4	MCM10	NXN	GJA8	SLC29A3	METTL5	SOX11	BRAF	CCDC103	CARS1	AHI1	GDF1	NR2F2	TLL1	CCNO	SRCAP	PRR12	NKX2-5	MASP1	DNAAF6	NONO	MYH7	MED23	COL1A2	TGFBR2	SMAD2	THOC6	FLCN	SNRPB	ASCC1	POGZ	PTF1A	NKX2-1	TBX4	RPS7	AMER1	RAF1	CCDC39	RSPRY1	DACT1	BUB1	EIF2AK3	FANCC	TGFBR1	TMEM260	BRD4	ADAT3	PLXND1	DNAJB13	NUP155	HACD1	RPL10	CLCN3	B3GALT6	NF1	STAT1	LMNA	DNAAF4	RPS26	MAP3K7	MEG3	RPL3L	FLNA	TRIP4	CTBP1	AMMECR1	ODAD4	ECE1	GATA1	METTL27	PAX3	DPH1	HDAC8	MYRF	SIK3	FGFRL1	NDUFB7	CFAP45	H4C3	GTF2IRD1	OCLN	H4C9	G6PC3	BUB1B	SHMT2	SHOC2	PEX19	MBTPS2	KDM1A	CEP57	TMEM94	CHD4	ADK	FOXJ1	RPL15	NME8	SLC19A2	PKD1L1	CACNA1C	SNX14	JAG1	RPL27	CFAP53	OTUD6B	ACADVL	RPL11	FBN2	MAP2K2	MAPK1	ACTA2	NFE2L2	NPPA	ODAD2	SDHD	CHMP1A	CPE	TRAIP	GNB5	BCL7B	LMBRD1	SETD1A	PPP1R21	ACVR2B	MAPKAPK5	NDUFB11	NCF1	CEP290	KIF20A	TKT	CRKL	DNAH11	RSPH4A	NEK10	RERE	EOGT	TALDO1	UBR1	TBX22	HYDIN	ARHGAP31	SPEF2	CFAP298	NKX2-6	RSPH1	SMAD4	TXNL4A	RFC2	ABL1	NOTCH2	FANCD2	RPS10	DDX6	TBL2	TMCO1	UMPS	TGFB3	PPFIBP1	RSPH9	BBS2	SOS1	GTF2I	DNAAF2	PIK3R2	PIGG	SMG8	CCBE1	SIAH1	SMARCC2	ZMYM2	PHGDH	FGFR1	BICRA	RPL18	STRA6	NELFA	RBM10	EPG5	XRCC2	EVC	ABCC6	RPL31	STX1A	HEATR3	AUTS2	MRAS	ZMYND10	MYL3	DNAJC30	ESCO2	TBX2	SH2B1	SETBP1	CDC42BPB	KCNH1	PCNT	LRRC56	BCR	SNRPN	RIPK4	BMPR1A	TSFM	KAT8	HIRA	STAG2	RAB23	DNAL1	IFT172	ANAPC7	PLD1	UPF3B	SOX4	ATIC	SUCLG1	NEK9	RBM8A	DLK1	H3-3A	SKIC2	TSR2	INSR	ARVCF	FOCAD	CHST3	DNAAF3	SMC3	SMN1	ZBTB7A	PRIM1	AGGF1	ROBO4	SYT1	RAI1	MYH6	FRMD5	COG6	GLI1	KIF15	BUD23	NFIX	PTEN	NEK1	CCDC40	MMP2	GYS1	RPS17	SLC25A24	HNRNPH2	IRX5	RELN	TWIST1	MYBPC3	BANF1	MAP2K1	DNAH9	RPS20	PKDCC	ARID2	GNPTAB	SH3PXD2B	COL1A1	KATNB1	GJA5	DNAAF11	CHST14	FTCD	UBE2A	FANCM	CACNA1D	SLX4	BCOR	BMP2	TTC26	NIPBL	TBC1D24	PIGA	GTF2IRD2	LIMK1	FANCL	USP9X	DEF6	ANK1	RTL1	POR	WDR35	TOM1	TMEM270	LMOD2	WLS	RPL35	JMJD1C	B3GAT3	FANCE	RNU4ATAC	DYNC2LI1	FANCG	MED25	CIROP	CUL3	ALG9	FGFR2	USP18	DRC1	RAD51	ODAD1	NODAL	UFD1	PRKACA	FHOD3
HP_RIGHT_VENTRICULAR_DILATATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIGHT_VENTRICULAR_DILATATION	CDH2	TBX20	TRAPPC11	IPO8	CTNNA3	TLL1	ALG9	GATA6	NKX2-5	FNIP1	ACTC1	MYH6	CITED2	GATA4	SCN5A
HP_ABNORMAL_T_WAVE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_T_WAVE	NOS1AP	SLC1A3	ANK2	MYL3	CLN3	JUP	KCNE1	CLCNKB	SNTA1	SCN10A	CACNA1C	ATP1A3	CALM1	KCNJ2	TBX5	TRDN	GYG1	CACNA1A	SCN4B	BRF1	CAV3	KCNJ5	CALM2	CALM3	MYL2	KCNE2	DCAF17	RYR1	PRKAG2	SCN5A	KCNH2	KCNQ1	ATP1A2	ALG10B	AKAP9	MECP2	SLC12A3
HP_VENTRICULAR_SEPTAL_HYPERTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENTRICULAR_SEPTAL_HYPERTROPHY	ALPK3	MTFMT	BSCL2	MYL2	SYNE1	MYPN	CSRP3	LEMD2	GYG1	TNNT2	MAP2K2	MYBPC3	GLA
HP_CORONARY_ARTERY_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORONARY_ARTERY_STENOSIS	YY1AP1	PNPLA2	MLXIPL	DYRK1B	ABCA1	ELN
HP_CARDIAC_VALVE_CALCIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIAC_VALVE_CALCIFICATION	GATA5	ZMPSTE24	NOTCH1	GBA1	MTX2	FBN1	SMAD6	IFIH1	LMNA	NKX2-5	HGD	SLC34A2
HP_ABNORMAL_ATRIOVENTRICULAR_CONDUCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ATRIOVENTRICULAR_CONDUCTION	TBX20	MT-TL1	GJA1	LMNA	GATA6	KCNJ5	KCNK3	PKP2	TMEM43	CALM1	CITED2	DES	DMPK	CDC45	AKAP9	MYPN	DTNA	GRIN1	EMD	SDHB	PSEN1	SYNE2	SLC25A20	GNB2	SCN2B	HCN4	DOHH	TTN	CTNNA3	GLA	SEMA3A	FHL1	SCN5A	PSEN2	KCNJ18	CACNA1S	SCN3B	TBX5	KCNQ1	NPPA	GPX4	RRM2B	MT-ATP8	MMP2	SLMAP	AGXT	SYNE1	ACADVL	CACNB2	KCNH2	SLC4A3	MYBPC3	CASQ2	SCN10A	CALM2	TRPM4	RANGRF	CACNA1D	GJA5	TLL1	PRKAG2	GPD1L	MYH6	TTR	MYL4	SDHAF1	CACNA2D1	SCN4B	KCND3	FLNC	SDHA	PTPN11	KCNE5	DEF6	NKX2-5	BVES	ACTN2	ACTC1	KCNE3	SDHD	SCN1B	PRKG2	RNASEH1	MMP14	SCNN1A	RYR2	ABCC9	KCNJ2	KCNJ8	CALM3	GATA4	MT-CYB	CACNA1C	GABRA3	TRDN
HP_VENTRICULAR_ESCAPE_RHYTHM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENTRICULAR_ESCAPE_RHYTHM	LMNA	SCN5A	SYNE1	TMEM43	SYNE2	GJA5	GNB5	EMD	FHL1	NPPA
HP_CONCENTRIC_HYPERTROPHIC_CARDIOMYOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONCENTRIC_HYPERTROPHIC_CARDIOMYOPATHY	TSFM	ALPK3	MT-ND4	MT-TS2	MT-ND6	NDUFS4	MT-ND5	MT-CO3	MT-TH	MT-CO1	MT-TL1	MT-TW	MT-TF	MT-TQ	DES	CLN3	TNNC1	FHOD3	MT-CO2	MT-ND1
HP_TOTAL_ANOMALOUS_PULMONARY_VENOUS_RETURN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TOTAL_ANOMALOUS_PULMONARY_VENOUS_RETURN	CDC42	MMP21	GDF1	TUBG1	ACVR2B	WT1	NIPA1	CFAP53	ZIC3	GPC4	NODAL	GPC3	NIPA2	RPS15A	DHCR24
HP_SHORTENED_PR_INTERVAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORTENED_PR_INTERVAL	DOHH	GAA	KCNJ18	CACNA1S	PRKAG2	TRPM4	MT-CYB	GABRA3
HP_PREMATURE_ARTERIOSCLEROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_ARTERIOSCLEROSIS	LDLRAP1	LMNA	PCSK9	LDLR	APOB	WRN	ABCG5	ABCG8
HP_PREMATURE_CORONARY_ARTERY_ATHEROSCLEROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_CORONARY_ARTERY_ATHEROSCLEROSIS	ABCA1	CEP19	ERCC8	APOA1	LMNA	APOE	ABCG5	ERCC6	CYP27A1	LDLRAP1	PCSK9	ACTA2	LDLR	LRP6	GPIHBP1	APOB	LIPC	ABCG8
HP_PROLONGED_QTC_INTERVAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLONGED_QTC_INTERVAL	NOS1AP	CALM2	ANK2	KCNQ1	KCNE1	TANGO2	SNTA1	SCN10A	KCNJ5	SCN5A	CACNA1C	CALM1	KCNJ2	TBX5	HCN4	TRDN	CAV3	FLNC	AKAP9	CALM3	TNNI3K	KCNE2	SCN4B	KCNH2	KCNA5	ALG10B	MECP2	SVIL
HP_SYNOVIAL_HYPERTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNOVIAL_HYPERTROPHY	PTPN2	PTPN22	IL2RA	PRG4	STAT4	IL2RB	ANKRD55	CD247
HP_POLYARTICULAR_ARTHROPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYARTICULAR_ARTHROPATHY	NOD2	PRG4	CCN6	ENPP1	PIK3CD	DMP1	CIITA	MEFV	TNFAIP3	NLRP3	PTPN22	IL10	NFKBIL1	NLRP1	TNFRSF1A	CD244	SLC22A4	IL36RN	STAT3
HP_HELICOBACTER_PYLORI_INFECTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HELICOBACTER_PYLORI_INFECTION	CARMIL2	CORIN	FLT1	STOX1	IFNGR1
HP_PANCREATIC_PSEUDOCYST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATIC_PSEUDOCYST	PRSS1	SPINK1	CFTR	CTRC	PRSS2
HP_SECRETORY_DIARRHEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SECRETORY_DIARRHEA	FOXP3	PERCC1	PLVAP	EPCAM	NLRC4	DEF6	STX3	UNC45A	SPINT2	SLC26A3	SLCO2A1	SLC9A3
HP_PANCREATIC_CALCIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATIC_CALCIFICATION	PRSS1	CASR	CTRC	SPINK1	CFTR	PRSS2	ABCC6	CPA1	ENPP1
HP_IMPAIRED_MASTICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_MASTICATION	MAP3K20	PAX9	ADSS1	SUMO1	TP63	LAMB2	TPM3	NAA20	IDS	MSX1	LAMA2	WNT10B	KANSL1	COLQ	LRP6	CHRNA1	SLC39A14	FARS2	PPP2R5D	H4C5	MYL2	MT-CO3	AXIN2	IRF6	TPM2	ITGA7	FGFR1	ALS2	EDA	NECTIN1	PYGM	TUBB3	ACTA1	EDARADD	HLA-DRB1	LPIN1	HLA-B	GNAI3	PTPN22	HACD1	P4HA2	WNT10A	SELENON	PYROXD1	ADNP	GRIN1	TGFA	HOXB1	MTRFR	MT-CO1
HP_BOWEL_DIVERTICULOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BOWEL_DIVERTICULOSIS	TMEM270	PIK3CA	DNAJC30	MLH1	BCL7B	MLXIPL	RET	ELN	VPS37D	GTF2I	NCF1	GTF2IRD1	EFEMP2	EIF4H	MSH2	TYMP	POLG	BUD23	ALDH18A1	CLIP2	GTF2IRD2	LIMK1	UBR1	ERBB3	LTBP1	FKBP6	FBLN5	METTL27	COL5A1	RFC2	PKD1	STX1A	BAZ1B	PTEN	TBL2	AKT1
HP_RECTAL_ABSCESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECTAL_ABSCESS	CYBA	IGHM	PI4KA	CYBB	NCF1	ITGB2	TTC7A	NCF2	VANGL1	RAC2
HP_ADENOMATOUS_COLONIC_POLYPOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADENOMATOUS_COLONIC_POLYPOSIS	MLH1	RNF43	MBD4	APC	MUTYH	POLE	POLD1	SMAD4	BMPR1A	PMS2	AXIN2	PTEN	NTHL1	MSH3	GREM1	EPCAM	ENG
HP_CHRONIC_GASTRITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_GASTRITIS	IGKC	ELF4	IPO8	IGHG2	FOCAD
HP_GASTROINTESTINAL_INFARCTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROINTESTINAL_INFARCTIONS	PTPN22	P4HA2	CALR	IL12B	F5	MLX	B2M	STK11	COL3A1	HLA-DRB1	HLA-B	MEFV	JAK2	TEK
HP_INTESTINAL_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTESTINAL_HYPOPLASIA	FLNA	AP1S1	DOK7	ACTG2	GATA6	MYH11	MYLK	CLMP	LMOD1	SLC18A3	MUSK	TUBA1A	SOX10	NUP88	ZMPSTE24	MYOD1	LMNA	RAPSN	GUCY2C
HP_INTRAHEPATIC_BILIARY_ATRESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRAHEPATIC_BILIARY_ATRESIA	RPGRIP1L	TMEM67	VPS33B	INPP5E	TCTN3	CC2D2A
HP_FUNCTIONAL_INTESTINAL_OBSTRUCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FUNCTIONAL_INTESTINAL_OBSTRUCTION	SMAD4	KRAS	RABL3	CDKN2A	PALB2	BRCA1	PALLD	TP53	ERBB3	BRCA2
HP_THORACIC_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACIC_HYPOPLASIA	PIGN	CTSK	IFT122	HSPG2	MATN3	WDR19	TMCO1	ITGA3	IFT43	KIAA0753	ZBTB20	TRIP11	LBR	KYNU	GNE	COL11A1	ACTA1	MEG3	IFT52	CCBE1	DYNC2I1	RTL1	ADAMTS3	CANT1	FAT4	IFT140	WDR35	COL11A2	DYNLT2B	TRPV4	SLC26A2	INPPL1	MTOR	DYNC2H1	NEB	TPM2	CCDC47	TAPT1	MYOD1	B4GALT7	CREB3L1	TCTN2	KAT6A	GPX4	MBTPS2	TTC21B	IFT80	CFL2	RMRP	FGFR3	IHH	COL1A2	FLNA	KBTBD13	DYNC2I2	IFT172	IFT81	SEC23A	HSD17B4	PLCB3	CFAP410	FAM20C	BCOR	ZC4H2	TRPV6	DLK1	PTH1R	KIAA0586	FLNB	RUNX2	SLC35D1	PCNT	COL2A1	CSPP1	CASR	POLR3A	NEPRO	MUSK	BMPER	MYPN	NEK9	ATP7A	CRTAP	EVC2	SLC37A4	CEP120	HHAT	EVC	SLC9A6	IL6ST	SKI	SRP54	KLHL41	SOX9	PCGF2	SLC10A7	TNFSF11	DLG3	FBN1	DYNC2LI1	MED12	RPS19	NAA10	ABCC9	INTU	LMNA	UPF3B	POR	SBDS	PUF60	DONSON	CHST3	KCNJ8	DNAJC21	GLI1	CLCN7	DCHS1	NEK1	PRKACB	TWIST1	GNPTAB	SNX10	MESD	TPM3	XYLT1	PIGA	ACTG2	LMOD3	DDRGK1	SERPINH1	AGRN	PAM16	COL1A1	DDR2	TCIRG1	B3GAT3	GAD1	ORC6	PIK3C2A	SNRPB	CILK1	FGFR2	GBA1	PRKACA
HP_PECTORAL_MUSCLE_HYPOPLASIA_APLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PECTORAL_MUSCLE_HYPOPLASIA_APLASIA	ALX3	TBX5	MYMK	ALX1	REV3L	MYMX	TBX3	SALL4	PLXND1
HP_JOINT_HEMORRHAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_HEMORRHAGE	LMAN1	F2	F13A1	GGCX	F5	SERPINF2	VWF	F9	F10	MCFD2	F11	WAS	F8	F13B	SERPINE1	F7	PLAU
HP_ABNORMALITY_OF_THE_SYNOVIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_SYNOVIA	UBA2	CHRM3	ARSB	ZIC2	KAT6B	IARS2	FANCB	COL2A1	GDF5	MATN3	CUL7	PLCH1	KIAA0753	UBE2T	MYH8	ACTA1	TGIF1	IPO8	NODAL	CANT1	PTPN11	EXTL3	F8	HFE	GNPTAB	RECQL4	PLOD1	RYR1	FZD2	DPYSL5	SIX3	ATP6V1A	TRPV4	SIX1	TRIM8	DHCR7	SLC35A3	SLC12A2	GLI3	ATP6V0A2	LONP1	TIMM22	DYNC2H1	TPM2	ZIC3	MMP2	GJA1	COL6A1	CCDC8	DLL1	OBSL1	CFL2	SMC1A	RINT1	POMT2	GAS1	DYM	CD96	LAMA5	VPS33A	ZNF407	HSPG2	PALB2	COL6A2	STIL	SHH	FLNA	HK1	PTH1R	NRCAM	POLR3A	FOXH1	BRCA2	POMT1	FGF8	CHRNG	LARGE1	PIEZO2	AARS1	ERGIC1	PTPN2	COL1A1	TRAPPC12	TGFB2	PPP2R5D	MYL2	COLEC11	IL6ST	KIAA0586	HDAC4	RAD51C	RUNX2	CSPP1	COG1	COL12A1	MAD2L2	SMARCAL1	FANCA	INPP5K	ATR	COL6A3	CDON	SLC2A10	GLI2	MACF1	IL2RA	HACD1	BRIP1	AEBP1	EVC2	FIG4	KANSL1	ZC4H2	CEP120	RFWD3	EYA1	LMNA	ENPP1	DHODH	ATAD1	EXOSC3	SOX9	RAD21	RNU4ATAC	FLNB	LETM1	FGFR1	CPLX1	BMP6	EBP	CSGALNACT1	CENPJ	ABCC9	PRG4	KDM6A	FGFR2	EXT2	GNB2	GPX4	AP4B1	ADAMTS2	GSC	SLC6A5	KMT2D	NSD2	FBLN5	BRCA1	UBE3B	COL9A3	THOC2	FGFR3	SLC25A1	CHAT	GMPPB	B3GALT6	GPC3	LTBP1	TCTN3	PYCR1	PTRH2	KIF22	SELENON	WDR35	POLR1A	VAC14	AFF4	ERCC1	UFSP2	AKT1	FUT8	GPC4	TPM3	FBLN1	FLI1	SMAD3	SIL1	CCN6	XYLT1	NAA10	ERCC4	MCTP2	C12orf57	COL25A1	ITGA7	EXT1	COX8A	OCRL	BRAF	AP4E1	GUSB	ALDH18A1	MYH7	THRA	COMP	PUF60	HNRNPH1	TGFBR2	DYNC2I1	SYT2	FKBP10	SNRPB	COL5A1	TBX4	DISP1	FANCC	ARNT2	ATP7A	RPS15A	CD247	BRD4	HYAL1	MAP3K20	ABCC6	LMNB2	GLRB	CLCN3	COL3A1	TRIP11	AFF3	COL5A2	DSTYK	EXOC6B	NANS	IFT52	COL13A1	PTCH1	CTBP1	DVL3	SLC26A2	HPRT1	TDGF1	DYNLT2B	HDAC8	INPPL1	WNT5A	FGFRL1	TONSL	SMOC1	COL1A2	CCDC47	OSTM1	MBTPS2	CHD4	SLC5A7	AP3B1	WNT7A	BICD2	ECEL1	SEC31A	BGN	MASP1	VAMP1	MYH3	NGLY1	ANKRD55	EFEMP2	SLC6A9	TBCD	GLB1	FANCD2	SLC35D1	GEMIN4	GATA1	HACE1	IL2RB	NEPRO	FKRP	FBN1	NFIX	GLRA1	FHL1	IFIH1	FANCI	STAT4	TMEM251	TFE3	CRTAP	NKX3-2	BICRA	ARSK	MYO9A	XRCC2	EVC	WDR19	NOD2	DVL1	ELN	NEB	TNNT3	ATP6V1E1	OSGEP	ZNF469	MKKS	CEP85L	SLC18A3	YWHAE	RAB23	TELO2	HOXA11	COLEC10	STAG2	EIF4A3	SLC35A2	PTPN22	MYO18B	RBM8A	AP4M1	POR	SERPINF1	ADAMTSL2	PTEN	CHST3	ALG9	TOR1A	SMC3	EIF2AK3	FANCF	PAFAH1B1	LRP4	ZMPSTE24	DNAJC21	SNAP25	SMO	SF3B4	KLHL41	SHROOM4	COL10A1	MAP2K1	PYCR2	FANCM	LPIN2	SLX4	AGRN	SCYL2	NIPBL	POLR3B	FANCL	USP9X	LMOD3	PIGL	TBX15	DDR2	GPHN	NSDHL	B3GAT3	FANCE	FANCG	AP4S1	OFD1	GORAB	APC	CLTCL1	PORCN	RAD51	TMEM67	MAP3K7
HP_GASTRITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTRITIS	FOXP3	SYK	SKIC3	IGKC	CARD8	ELF4	CASP10	IPO8	SKIC2	RASGRP1	RIPK1	DEF6	LRBA	FOCAD	NFKB1	PRKCD	CDH1	FAS	CTLA4	IGHG2	IFIH1	AIRE	FASLG
HP_ABNORMALITY_OF_THE_GALLBLADDER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_GALLBLADDER	IGKC	DNAJC30	VPS37D	ARSA	F5	GATA6	DMPK	JAK2	EPB41	HIRA	GPI	NR1H4	CNOT1	SEC23B	HBB	INTU	ABCB11	PSAP	METTL27	PKHD1	FECH	SPTA1	ASXL1	TBX1	NSD2	DHCR7	ALDOA	SMPD1	GP1BB	ARVCF	SPTB	TPI1	EPB42	STK11	KCNN4	PFKM	ALAS2	GDF2	CCDC47	GTF2IRD1	PNPLA2	TCF4	RREB1	GCGR	PEX19	SCNN1B	BUD23	UQCRFS1	CPLX1	SMAD4	B3GLCT	ABCG8	SLC4A1	COMT	BAZ1B	ELN	ACVRL1	AMACR	BCL7B	GNE	GPR35	MLXIPL	VPS4A	ABCB4	CALR	SEC24C	MST1	SON	NCF1	CYP27A1	BLVRA	SCNN1G	LETM1	SCNN1A	EIF4H	GTF2IRD2	LIMK1	ATP8B1	FKBP6	RFC2	CC2D2A	PKLR	IGHG2	AIRE	TBL2	KDM5C	TMEM270	GYPC	MECP2	ANK1	SEMA4D	RFX6	GTF2I	PIEZO1	ENG	JMJD1C	PIGG	UROS	TFE3	MED25	CLIP2	HK1	FOXF1	HOXD13	NELFA	CTBP1	UFD1	STX1A	GBA1	SC5D	CYP7A1	FUCA1
HP_ABNORMAL_JEJUNUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_JEJUNUM_MORPHOLOGY	PI4KA	CENPF	AP1S1	PPP1R12A	RFX6	MYCN	TTC7A	ZNF699	MIR17HG	SLC25A12
HP_INTESTINAL_POLYP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTESTINAL_POLYP	PMS1	PIK3CA	PTCH2	MBD4	BUB3	SDHD	POLE	APC	CEP57	SDHB	SMAD4	ECE1	BMPR1A	USF3	EDNRB	SEC23B	MSH3	EDN3	SREBF1	FLCN	MLH1	MTOR	POLD1	MSH2	SEMA3D	FAN1	GDF2	DICER1	BUB1B	MDM2	RET	MUTYH	MSH6	AXIN2	PTEN	NTHL1	EPCAM	KRAS	ERBB2	GNAS	CDKN2A	ATP7A	ENG	ACVRL1	NRTN	TGFBR2	PMS2	TRIP13	CTNNB1	GDNF	ABCD1	CHEK2	ERBB3	AKT1	MLH3	PTCH1	RNF43	PDGFRA	SUFU	TP53	STK11	SEMA3C	KEAP1	KLLN	GREM1	SMO	BUB1	SDHC
HP_MISCARRIAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MISCARRIAGE	PLIN1	RHCE	NLRP7	SERPINC1	RHD	DLK1	RAD51C	HSPG2	NSD2	DNM2	MTMR14	FGB	WRN	HOXA13	FGG	MYF6	HBB	REC114	CLN8	MGP	JAK2	RYR1	MEG3	RHAG	BIN1	RTL1	ENG	ALB	THPO	SERPINE1	FCGR3B	MPL	XIST	FGA
HP_PROMINENT_NASAL_TIP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_NASAL_TIP	WDR26	FLCN	PCGF2	ZEB2	KCNJ6	MADD	CCDC8	BICRA	CSGALNACT1	CHD5	DPYD	SPEN	OBSL1	AUTS2	PRKACB	SYT1	PDE4D	CHRNA7	PPP3CA	MED25
HP_DEPRESSED_NASAL_BRIDGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEPRESSED_NASAL_BRIDGE	LRP2	EXTL3	PCLO	MGP	MN1	ARSB	IARS2	SEMA3E	POU1F1	YARS1	NSD2	IL11RA	CUL4B	SPATA5	CUL7	HES7	KIAA0753	HECW2	DEAF1	FGFR2	GPC4	LBR	KYNU	RTL1	CASZ1	COL11A1	ETFA	PURA	ADGRG6	IPO8	FAT4	PITX2	SMARCB1	DYNC2I1	ADAMTS3	WASHC5	CANT1	FBXO28	FRAS1	KRAS	SMARCE1	DPYD	GNPTAB	RPS24	PRKAR1A	PIGL	KLHL7	IFT140	PGAP1	FZD2	NSMCE3	WDR35	SPATA5L1	COL11A2	MEGF8	ASXL1	SPOP	TRPV4	COL18A1	SPECC1L	ARL3	HSPG2	RPS27	RSPRY1	LONP1	ADA2	WDR26	SMARCA4	SKIC2	LIG4	RPS28	IDUA	WAC	ALG3	SCN2A	FGFR3	CAMKMT	SMC1A	DNMT3B	EDARADD	HNRNPR	TAF1	DICER1	LAMA5	DIS3L2	ARID1B	DPM1	HOXB1	MUSK	FREM2	PEX6	ZBTB18	ADAMTS10	TUBA1A	MED12L	RPS29	CREBBP	NRCAM	ARSL	HS6ST1	CDCA7	SLC3A1	TPO	DYNC2H1	SP7	MTX2	DVL1	HSD17B4	RPL35A	PLCB3	RPS6KA3	PIGN	IYD	DPH1	COL1A1	BBS7	KIF11	PRDM16	STAG2	PIGQ	KNSTRN	MACF1	SH3PXD2B	TCF20	GNAS	SRD5A3	PTH1R	DMXL2	FLII	KIAA0586	WDR11	ASXL3	NMNAT1	TBCE	HRAS	DUOXA2	RUNX2	FOXL2	CSPP1	ARID1A	GLI2	LHX3	POLR3A	TRIO	PDPN	ETFB	SMARCAL1	RAI1	SMARCD1	MED13L	GATAD2B	PDE4D	LTBP3	RECQL4	GNRHR	MINPP1	CDH2	TUBB	USB1	DHCR24	SPEN	TRRAP	GPC6	SCYL2	MESP2	TMEM107	DPF2	SIK1	ROR2	FBN1	MAN2B1	ZIC2	SOX9	RAD21	PRKAR1B	SHH	AMMECR1	TWIST2	EBP	DLL3	TMEM147	CSGALNACT1	PPM1B	MAF	DHX30	PAK2	ERF	GABRD	CNOT1	ZBTB24	MED12	CHD7	GNB2	GPX4	KCTD1	RPL26	ACAN	BRAF	ADAMTS2	GRM7	HDAC4	TG	PAX3	INTU	GMNN	FOXG1	SOX11	POGZ	UBE3B	CBL	CDK10	WNT5A	SCARF2	RAF1	DDB1	PEX5	NSMF	SOST	PIGY	CDKL5	MTHFR	AKT3	UQCC2	RPS19	ANTXR1	HELLS	ATRX	PRMT7	FLNB	PIGT	SUFU	MECP2	MMP23B	CTU2	POR	RPS15A	RMRP	FTSJ1	HBB	CCDC22	DVL3	GNRH1	AKT1	RIPK4	POLA1	DOK7	COL2A1	RPS23	ALX4	EP300	PIGG	ETFDH	PROK2	CASK	PEX16	SON	H4C11	B3GALT6	XYLT1	NAA10	HUWE1	GBA1	FGF8	NXN	ANKH	GJA8	EXOSC1	PAM16	LFNG	TCF3	EZH2	PIGP	FGF17	IFT74	AUTS2	TRIP11	KCNE5	DUOX2	PTEN	ACSL4	ACOX1	PEPD	SYNE1	TBX4	RPS7	FDFT1	NFIX	VARS1	PIK3CD	POLE	P4HTM	BRD4	ADAT3	HYAL1	KAT5	WDR4	POLRMT	COL9A3	TSHB	SOX5	FGFR1	MYOD1	RPS26	MYMK	MEG3	IFT52	CCBE1	RHOBTB2	GATA1	ELN	SMG9	SKI	STX16	HDAC8	PREPL	INPPL1	MTOR	TONSL	SUMF1	SMOC1	COL1A2	SLC39A13	PEX3	EDA	SLC25A22	H4C9	GNS	KREMEN1	PMM2	PIK3CA	AHDC1	PAX1	CEP57	IFT80	SMPD4	TMEM94	GLIS3	KISS1	GNAO1	RPL15	CACNA1C	SNX14	PRPS1	JAG1	RPL11	MAP2K2	SIX2	FH	FLNA	PLOD1	PAICS	EEF1A2	PSAT1	GLUL	MAPRE2	IFT81	RPL27	TRIM8	TRIP12	PEX19	GTPBP2	FAM20C	PEX7	AIFM1	NUP88	DHCR7	TWIST1	IQSEC2	DUSP6	NAGA	SLC6A9	SLC45A1	LUZP1	SCO2	SIN3A	ARX	PEX1	GLB1	EED	CD96	DLK1	MED27	COG8	RPS10	EFEMP2	UBE2A	PEX13	TRIM37	NEPRO	TACR3	CDH11	BLTP1	SOS1	TAC3	KCNH1	DYNC2I2	BMPER	AGA	MLXIPL	TAOK1	KCNAB2	PROP1	TFE3	DOCK6	RALGAPA1	TOE1	PIK3C2A	MARS2	UGP2	PRKD1	SMARCC2	RAB3GAP2	PIK3R2	BICRA	TFAP2A	RPL18	AGL	KDM6B	EPG5	RPL31	MRAS	RPL5	FAR1	GJA1	KCNA1	CDKN1C	NSUN2	TBX2	ZNF292	SCN1B	SETBP1	CDC42BPB	RERE	GNPAT	NIPBL	LHX4	BMPR1A	PEX11B	KAT8	RAB23	GLI3	TFAP2B	EDAR	PRKCZ	PEX12	SLC1A4	SETD5	ALDH6A1	SLC26A2	SOX4	SPRY4	NSRP1	FOXC1	H3-3A	MADD	TSR2	NRAS	ADAMTSL2	FOCAD	TMEM216	CHST3	ALG9	METTL23	SMC3	SLC35C1	PEX10	EIF2AK3	PRIM1	NBN	ASH1L	IL6ST	PITX1	SMO	SLC5A5	SNAP29	NEXMIF	SHROOM4	SLC25A24	PEX2	SHOX	MEF2C	LINS1	RAB3GAP1	RPS20	ARID2	TGIF1	DYNC2LI1	GJA5	GRIP1	HESX1	PEX14	OBSL1	NSD1	VANGL2	UBE4B	EYA1	BMP2	CCND2	TTC26	B3GLCT	PLXNA1	ABCC9	PIGA	USP9X	KIF7	RPS17	ANK1	CRIPT	SIM1	SLC18A3	NF1	GPC3	GRIN1	KISS1R	TP63	CRLF1	PIGU	MDH1	DDR2	RNF2	LARP7	CLIC2	NEUROD2	RPL35	RIPPLY2	NSDHL	B3GAT3	GAD1	MAP2K1	RAPSN	ZMPSTE24	SEPTIN9	PEX26	ZSWIM6	PROKR2	ADNP	MRPS14	KAT6B	NPR2	BUB1B	PNKP	MAP3K7	TALDO1
HP_ABNORMAL_NOSTRIL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NOSTRIL_MORPHOLOGY	MN1	ZIC2	RGR	CTCF	IDH3A	PLCH1	PRPF4	HECW2	PDHA1	ZBTB20	GPC4	OTX2	TGIF1	ZNF699	PURA	KCNJ6	SMARCB1	NODAL	SALL4	EHMT1	GNPTAB	PRKAR1A	FZD2	SLC7A14	MEGF8	SIX3	PCARE	VPS51	PEX10	DISP1	WDR26	ATP6V1E1	SLC25A46	TAPT1	ANKRD11	CCDC8	TMEM237	DLL1	SPOP	OBSL1	SKI	RBM10	UNC80	PTPRF	CSPP1	TAF1	NFIX	ARID1B	HOXB1	AP2M1	HK1	POLR3A	ARL3	DVL1	RPS6KA3	CHN1	PIGN	RP2	TMEM218	KIF11	PIGQ	MKS1	LONP1	PTH1R	CC2D2A	CRB1	FLII	KATNB1	ARID1A	GLI2	BAP1	EBF3	FGF8	KIF1A	RAI1	COL11A2	ATP6V1A	WAC	CDON	POU4F1	SUFU	LTBP3	SPEN	TRRAP	MAFB	SIK1	NR2E3	SATB2	FTO	RAD21	FGFR1	MYCN	EXOSC2	GPAA1	DLL3	CAMTA1	NGLY1	TULP1	SNRNP200	CHD2	ZBTB24	ADNP	KCTD1	GRM7	ABCC9	PAFAH1B1	SEMA4A	FRMD4A	PDE6A	UBE3B	HIC1	EFTUD2	FGFR3	ZNF423	NRL	WNT5A	CDH11	GPC3	CDKL5	USH2A	PAH	PRMT7	MAPK8IP3	SMCHD1	TRMT10A	VAC14	ASXL1	DVL3	BEST1	IFT122	PEX5	PEX6	NOTCH2	ATAD3A	RPGRIP1L	IMPDH1	MICU1	KCNJ11	FLI1	PRPF8	FOXH1	GBA1	SMC1A	SHH	TCTN2	TMEM53	NXN	GJA8	PAM16	SOX11	AHI1	ZNF462	KIZ	FAM149B1	SPART	NFIA	PEX1	TRIP11	TOPORS	HRAS	PDE6B	TRIO	ACSL4	IFT140	SYNGAP1	MAK	NRAS	POMGNT1	PHIP	PLEC	CNOT3	VPS35L	BRD4	PPM1D	CERKL	KATNIP	CPSF3	STIL	COL2A1	FAM161A	POLRMT	SHOC2	GUCA1B	MYMK	MAP3K7	MEG3	FGFR2	INPP5E	XYLT1	ARMC9	FBN1	FGF3	INPPL1	TONSL	SLC25A22	PAK3	PAX1	GNAO1	PRPF3	RBP3	DDX3X	KRAS	PMM2	PDE6G	MAP2K2	TBC1D20	FH	CHMP1A	PAICS	PPP1CB	IFT172	ABCA4	PPP1R21	DOCK3	FBXO31	RAB3GAP2	PPP1R15B	RP9	SLC6A9	COL11A1	RERE	ARX	OFD1	RAC1	WDR19	MED27	KDM1A	CPLANE1	TMCO1	ERF	PRRX1	SMARCC2	PROM1	HDAC8	SNX14	GPC6	ALG13	MLXIPL	TUBGCP6	ABCC8	PTCH1	MARS2	PEX11B	BICRA	CEP55	TMEM67	TMEM231	RNU4ATAC	ROR2	SLC26A2	TBC1D24	ADSL	SCN1B	ATRX	TBX6	NOVA2	CNGA1	SNRPN	FAM20C	GLI3	BRAF	TOGARAM1	SETD5	ALDH6A1	PPP2R1A	SOX4	B9D2	NSRP1	BRCA1	PRCD	DLK1	H3-3A	DNMT3A	INSR	PUF60	PTEN	FGD1	COG1	KIF14	KCNJ8	BBS1	TDGF1	CRLF1	ARL2BP	CERT1	CEP104	NEXMIF	MEF2C	NPHP1	PARS2	SAG	SH3PXD2B	RAB3GAP1	GJA5	TMEM138	LIFR	LMBRD2	NSD1	EYA1	GAS1	TTC26	PEX26	HGSNAT	IFT43	LEMD3	PIGA	DYNC1I2	HPDL	ACTG2	ATP6V0A2	NAA10	TBCK	DPF2	PEX13	RNF2	AIFM1	NEUROD2	IDUA	RIPPLY2	AMMECR1	GAD1	MAP2K1	DHCR24	RPGR	SMS	AHR	SC5D	WDR4	FSCN2	CUL7	HES7	DEAF1	RTL1	ADGRG6	PRPF31	EXTL3	DPYD	SPECC1L	DHCR7	TCF4	EYS	CBY1	TWIST2	SMARCA4	GJA1	NALCN	SCN2A	BBS2	REEP6	BMP2	DNMT3B	CD96	SCN1A	MED12L	CEP290	CREBBP	NARS2	PLCB3	TXNDC15	IMPG1	RALA	CLRN1	HYLS1	KNSTRN	PIGF	AGBL5	DMXL2	ASXL3	SKIC3	PRPH2	RPE65	CEP41	SETD1A	TTC8	POU1F1	ATP6V1B2	FIG4	ZC4H2	MESP2	DHDDS	ZNHIT3	KLHL15	SMARCD1	MID1	PEX16	KDM4B	SPATA7	CSGALNACT1	SPTBN1	ADAMTS3	TMEM216	KIAA0753	ARHGEF18	TUBGCP4	GMNN	CNOT2	MPLKIP	DDB1	CEP120	PIGY	ROM1	NFIB	CA4	PIGT	MECP2	ZNF513	RP1L1	RLBP1	TCTN1	RMRP	AFF4	AKT1	CLCF1	PBX1	KLHL7	RIC1	ACTB	CASK	FLNB	B3GALT6	ALX4	PEX14	RNF125	EXOSC1	SLC29A3	SMARCE1	LFNG	SMARCA2	PIGP	MERTK	CRX	AUTS2	KCNE5	KIAA0586	ANTXR1	RP1	MYMX	HIVEP2	PEX3	PRPF6	SCAPER	TUB	RAB18	ELN	SMG9	PIBF1	RDH12	WNT3	IMPG2	SUMF1	OCLN	GNS	WDR35	TMEM94	MAPK1	ECEL1	LRPPRC	KIAA1549	GLUL	TMEM70	TRIM8	TRIP12	NEK2	CANT1	IQSEC2	BRF1	PIK3CD	PYCR2	PUS7	ARL13B	DOCK7	BLTP1	PLK4	KCNH1	CDHR1	AGA	RALGAPA1	PEX12	PRKD1	ZMYM2	ARL6	ADAMTSL2	CSNK2A1	SEC23A	SLC2A1	SLC17A5	KCNA1	LRAT	ESCO2	IFT88	ZNF292	SETBP1	CDC42BPB	GNPAT	NIPBL	IER3IP1	CNGB1	NR2F1	H4C5	HMGA2	STAG2	RAC3	ATIC	RBM8A	MADD	CFAP418	IFT52	PEX19	TOR1A	METTL23	GDF11	SMC3	HDAC4	ASH1L	KIF15	IL6ST	PEX2	PDE4D	ZNF408	IRX5	ARID2	UBR1	B3GLCT	PLOD3	MSL3	DHX37	RHO	CRIPT	SIM1	GRIN1	IDH3B	DHX38	YWHAE	WLS	AIMP2	SIN3A	MAB21L1	PIEZO2	MED25	DIS3L2	GNAI1	SLC6A1	B9D1	BUB1B	PNKP
HP_ABNORMALITY_OF_THE_NASOLABIAL_REGION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_NASOLABIAL_REGION	GNB2	CHST14	NAA10	ATP6V0A2	TNNI2	MAN1B1	USP9X	NALCN	FOXP1	TOR1A	MYBPC1	ATP6V1E1	SNRPN	DSE	NF1	LTBP1	SPRED2	ATP6V1A
HP_VENOUS_INSUFFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENOUS_INSUFFICIENCY	GJC2	FIBP	CLCNKB	SEC24C	GP1BB	ARVCF	NDP	RASA1	JMJD1C	PIEZO1	COL3A1	PTEN	EPHB4	G6PC3	KIF5A	FOXC2	SMAD3	AGGF1	RREB1	ATP7A	VHL	PROS1	PROC	HIRA	TBX1	SLC29A3	NOTCH3	PIK3CA	AEBP1	GNAQ	FLT4	ENG	COMT	UFD1	GBA1	SMAD2	SMOC1	SLC12A3
HP_ARTERIAL_DISSECTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTERIAL_DISSECTION	TGFBR1	PLOD1	COL1A1	COL5A2	COL3A1	SMAD3	COL5A1	TGFBR2	IPO8
HP_CEREBRAL_VENOUS_THROMBOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_VENOUS_THROMBOSIS	MTHFR	PROS1	SERPINC1	PGM1	F2	PDE4D	PROC	F13A1	HABP2	PRKAR1A
HP_CAPILLARY_HEMANGIOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAPILLARY_HEMANGIOMA	CREBBP	RASA1	AKT1	RBM8A	DHCR7	GNA11	TBC1D24	ESCO2	GNAQ	MGAT2	POR	EP300	DVL1	SEC23A	GLI3	WNT5A	HS2ST1	FGFR1	PUF60	PTEN	CCND1	FLT4	OFD1	DIS3L2	ATP6V1B2	ANTXR1	VHL	EPHB4	KDR	SRD5A3	EXTL3	KRAS	EIF2AK4	CD96	DVL3	FZD2	RECQL4	ARL6IP6
HP_INCREASED_PULMONARY_VASCULAR_RESISTANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_PULMONARY_VASCULAR_RESISTANCE	TBX20	SMAD9	TLL1	GATA6	BMPR2	NKX2-5	KCNK3	ACTC1	MYH6	CITED2	SLC34A2	CAV1	GATA4
HP_DISTURBANCE_OF_FACIAL_EXPRESSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTURBANCE_OF_FACIAL_EXPRESSION	NECTIN1	CREBBP	SCN2A	PRRT2	SCN9A	EP300	PNPT1	GLI3	TP63	MTMR14	SCN1A	PLA2G6	GATAD2B	ATP1A2	PLPBP	KCNQ3	PCDH19	KCNQ2	ALDH7A1	MSX1	GABRG2	PANK2	PMP22	CACNA1A	PNKD	LRIG2	GABRA1	IRF6	DNM2	SCN1B	CP	MECP2	ATXN8OS	PDE2A
HP_PROGEROID_FACIAL_APPEARANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGEROID_FACIAL_APPEARANCE	B4GALT7	ELN	POLR3A	RNF113A	SLC2A10	ZMPSTE24	MTX2	ATP6V0A2	GJB2	GORAB	LMNA	ERCC6	LTBP4	PSMB8	WRN	ERCC4	LMNB2	STUB1	ERCC8	KCNJ6	CAV1	ERCC1	GJB6	BANF1	ERCC3	FBN1
HP_SPARSE_LATERAL_EYEBROW	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPARSE_LATERAL_EYEBROW	TRPS1	KRT74	LIPH	MAN1B1	WLS	NSUN2	KAT5	NECTIN1	KRT25	CDC42BPB	TBX3	KDM6A	WDR26	LMBRD2	LPAR6	LIG4	ATR	KMT2D	TWIST2	MESD	PLXNA1	PURA	KMT5B	EDARADD	H4C5	HNRNPK	USB1	PQBP1	PIGK	HEPHL1	IRX5	KRT71	COG6	PPP1CB
HP_ABNORMALITY_OF_COMPLEMENT_SYSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_COMPLEMENT_SYSTEM	DNASE1L3	C5	SERPING1	PACS1	CFI	CFH	C6	GALK1	LMNA	C9	STAT4	IRAK1	TLR7	CFHR3	C8B	C4A	C8A	C1QA	C3	LMNB2	CFHR1	CFB	CFD	PRKCD	MASP2	CD46	C1S	C1QB	SLC7A7	CFP	SPP1	C1QC	C7	C4B
HP_SPASTIC_HYPERACTIVE_BLADDER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTIC_HYPERACTIVE_BLADDER	EIF4G1	GBA1	VPS35	DNAJC13	SNCA	KIF5A	PLP1	GIGYF2	LRIG2	LRRK2	DARS2
HP_HYPOPLASIA_OF_THE_BLADDER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_BLADDER	MED12	WNT4	MBTPS2	GRIP1	ALG9	MKS1
HP_ABNORMAL_CAROTID_ARTERY_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CAROTID_ARTERY_MORPHOLOGY	DNAJC30	PLXND1	FANCB	VPS37D	NDE1	PPARG	FOXE3	UBE2T	LDLRAP1	DCDC2	STAT1	MYLK	IPO8	TMEM67	COL3A1	MYH11	TGFB2	AEBP1	METTL27	LDLR	ATP7A	SMAD2	ACTA2	BRCA1	MAT2A	HTRA1	GTF2IRD1	FBN1	FANCF	APOB	ZMPSTE24	BUD23	COL5A1	SMAD4	PALB2	BAZ1B	ELN	TGFB3	BCL7B	SLC2A10	MLXIPL	BRCA2	LOX	ABCG5	NCF1	FANCM	SLX4	SON	ABCG8	EIF4H	TGFBR1	GTF2IRD2	LIMK1	ERCC4	FANCL	FKBP6	MFAP5	THSD1	NKX2-6	RAD51C	NF1	RFC2	FANCD2	TBL2	TOM1	HEY2	TMEM270	PRKG1	ABCA1	MAD2L2	GTF2I	FANCA	FANCI	FANCE	FANCG	TGFBR2	CLIP2	BRIP1	LMX1B	HOXA1	YY1AP1	RAD51	RFWD3	PCSK9	XRCC2	FANCC	LMNA	STX1A	SMAD3
HP_ABNORMAL_VENA_CAVA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VENA_CAVA_MORPHOLOGY	DNAH9	CREBBP	ZMYND10	CFC1	PLXND1	SPAG1	DNAJB13	EP300	TTC12	BAP1	CWC27	ACVR2B	DNAAF11	FANCB	FOXF1	UBE2A	LRRC56	RPGR	SRCAP	DNAI1	ZNF699	GAS8	DNAH11	CFAP221	DNAAF4	GNB2	OFD1	RSPH4A	RSPH3	NEK10	PRKCD	DNAL1	HYDIN	ERCC8	WT1	STK36	SPEF2	CFAP298	NKX2-6	ODAD4	RSPH1	ZIC3	CFAP300	SLC29A3	CCDC103	MCIDAS	CCNO	RSPH9	ATN1	ADH5	GAS2L2	DNAAF2	CCDC65	DNAAF3	DNAAF6	SMG8	DNAAF5	RAI1	MED25	CIROP	SMAD2	MMP21	DNAAF1	ODAD3	UQCRFS1	FOXJ1	CCDC40	NME8	KDM3B	DRC1	FADD	RBM10	PRKACB	CCDC39	MID1	ODAD1	ODAD2	DNAI2	DNAH1	DNAH5	TMEM260
HP_ABNORMAL_FACIAL_EXPRESSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FACIAL_EXPRESSION	MAP3K20	SLC20A2	FA2H	MTMR14	LRP12	DLK1	SNCA	PRDX3	PANK2	PLPBP	ALDH7A1	KCNJ6	VPS41	RYR1	ASXL3	ATP13A2	PNPT1	TRIM32	MT-TT	FMR1	MSTO1	GBA1	ATXN8OS	UBA1	RRM2B	DPM2	CC2D1A	SCN9A	PLA2G6	GLI3	SPR	PABPN1	PODXL	SLC18A2	SMCHD1	SLC6A8	KCNQ3	GLUD2	KCNQ2	BCL11B	DNA2	TWNK	FBXO7	PMP22	UBE3A	FTL	LRIG2	LRRK2	POLG	HOXB1	SNCAIP	HSPG2	DNM2	CP	CREBBP	GFM2	TECPR2	DMXL2	MYH7	VAMP1	TP63	GLE1	MYH3	LAMA2	GMPPB	PDGFB	PCDH19	ERGIC1	SLC6A9	SLC39A14	KNSTRN	PURA	ATP6AP2	DNMT3B	MYL2	CLTC	PIK3CD	DCTN1	TXNL4A	PIEZO2	TPM2	MAPT	NECTIN1	MYMX	PRRT2	POMT1	ATXN2	UBA5	HLA-DQB1	KLHL41	DDHD2	EBF3	KCNH1	ATP6V1A	GATAD2B	ATP7A	PLAA	HACD1	CACNA1A	MRE11	ACTA1	FRG1	SCN1B	MECP2	PDE2A	STAC3	ITPR1	VPS35	MYL1	SLC25A4	DUX4	TANGO2	SLC52A3	EIF2AK2	TBP	SLC16A2	ADH1C	DNAJC6	NOTCH2NLC	KDM6A	KMT2D	PRNP	RIPK4	FKRP	SPTBN4	ATP1A2	ATP1A3	HPSE2	PAX6	DNAJC13	POMT2	SLC6A3	NR4A2	SGCB	GIPC1	MEG3	REV3L	SCN1A	GIGYF2	TAFAZZIN	MSX1	GABRG2	TNPO2	SELENON	CERT1	PLXND1	PYROXD1	EIF4G1	CCDC174	OGDHL	SCN2A	EP300	JAM2	SLC30A10	TPM3	NEB	MYH2	SCYL2	FKTN	COL25A1	IRF6	ITGA7	PDGFRB	KCNK9	POLG2	RTL1	TK2	LARGE1	TH	SYNJ1	PNKD	GABRA1
HP_INSPIRATORY_STRIDOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INSPIRATORY_STRIDOR	SCN4A	MIR140	IGHMBP2	SERPING1	FUZ	KIF22	EXOSC9	SCO2	SLC25A46	NFASC	PLP1	D2HGDH	AGTPBP1	SLC52A3	EXOSC8	VRK1	EXOSC3
HP_HYPOPLASIA_OF_THE_EPIGLOTTIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_EPIGLOTTIS	SETBP1	FGF10	NEK1	CILK1	FGFR3	PRRX1	SF3B4	GLI3	FGFR2
HP_LACK_OF_T_CELL_FUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACK_OF_T_CELL_FUNCTION	ADA	AK2	RFXAP	RFXANK	CIITA	RFX5	JAK3
HP_DECREASED_SERUM_COMPLEMENT_FACTOR_I	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SERUM_COMPLEMENT_FACTOR_I	CFHR3	CFHR1	C1QB	C1QA	C1QC	CFI	CFH
HP_SEVERE_B_LYMPHOCYTOPENIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_B_LYMPHOCYTOPENIA	RAG2	RAG1	DCLRE1C	PRIM1	ADA	NFKB2
HP_ABNORMALITY_OF_HUMORAL_IMMUNITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_HUMORAL_IMMUNITY	FOXP3	EXTL3	CFI	TERT	RASGRP1	TRNT1	ADAM17	IFNGR1	KLHDC8B	CFH	DOCK8	TCF3	IPO8	ADAMTS3	POMP	LAMTOR2	NSMCE3	IFIH1	CR2	C4B	PIK3R1	RNF113A	MYD88	SPIB	BTK	CNBP	RAC2	ZEB2	RAG2	CD247	NFKB1	MASP2	CCND1	RFXANK	DNMT3B	FLNA	TYMS	VPS33A	SH3KBP1	MAGT1	ALG12	HLA-DQB1	CDCA7	IGHM	LRBA	SLC25A13	C9	KRT74	NFKB2	RAG1	KNSTRN	STAT3	PGM3	IL6ST	FNIP1	XIAP	RFXAP	IL12RB1	GTF2E2	SKIC3	KRT9	REL	IRAK4	CD19	ICOS	CTNNBL1	IL12A	GBA1	SCARB2	CD3D	SPI1	ALB	PTEN	CAVIN1	TOM1	IL6R	JAK3	IGKC	PIK3CD	POU2AF1	CASP10	AICDA	STAT4	TLR7	CFHR3	C4A	PTPRC	IKZF1	BLNK	STXBP2	IL21R	ZBTB24	ADA	RFX5	PRF1	CFHR1	CARMIL2	NBN	CASP8	KRT5	POLE	SFTPC	SERPING1	PACS1	EPG5	MS4A1	BCL10	IKBKG	C6	MS4A2	VPS45	ZAP70	GPC3	TCF4	SP110	HELLS	ITK	SLC39A7	MGAT2	TLR8	SPINK5	SLC7A7	TNFRSF11A	BLM	CARD9	RMRP	C1QC	ZNF341	HLA-DQA1	NCKAP1L	ATP6AP1	RIPK1	GPC4	IRAK1	ATM	MOGS	PRKCD	MAN2B1	SON	DCLRE1C	WAS	TCN2	NTRK1	PIGT	CFB	KRT1	TYK2	LRRC8A	ADA2	SH2D1A	CARD10	PLVAP	TNFRSF13B	ARHGEF1	IRF2BP2	CDSN	CXCR4	NHEJ1	MSN	C3	MTHFD1	KRT14	FAS	LIG1	CIITA	ERCC2	SMARCAL1	CD70	DNASE1L3	UNC13D	IL2RG	C5	CD28	ITCH	IL4R	TFRC	CTLA4	C1QA	TNFRSF13C	COL1A1	CD40	LMNB2	CCBE1	MVK	TIMM8A	FAT4	ATP6AP2	C1S	HYOU1	TNFRSF1B	IL21	MTOR	CD79A	SIK3	LMNA	TONSL	STAT5B	PMM2	PSMB9	CARD11	COL7A1	TPP2	CD46	GTF2H5	TP53	CD3E	NFE2L2	CFP	GPR35	SLC46A1	SETX	STING1	PLCG2	LAT	PSMB8	MPLKIP	SYK	BACH2	RNF168	SPP1	FASLG	GALK1	CD81	C8B	TNPO3	RNU4ATAC	SAMD9L	CFD	CD79B	TTC7A	TNFSF15	CSNK2A1	HLA-DRB1	C7	PEPD	PIK3CG	B2M	SPPL2A	ERCC3	RTEL1	CD55	MYSM1	CISD2	OAS1	STAT2	AK2	SFTPA2	LIG4	RBM8A	SKIC2	IVNS1ABP	TARS1	CTPS1	IKBKB	IL2RB	C8A	SLC35C1	NLRP1	PRIM1	PSTPIP1	COG6	UNG	ELANE	CARS1	NHLRC2	STX11	IRF5	SLC5A6	PLA2G7	MST1	CD27	MMEL1	SASH3	TGFB1	PSMB4	OTULIN	IGHG2	SEMA4D	CD40LG	IL2RA	TNFSF12	CD3G	IGLL1	NRAS	MUC5B	TRMU	C1QB	KRAS	IL7R	RPA1
HP_CELLULAR_IMMUNODEFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CELLULAR_IMMUNODEFICIENCY	CDCA7	CREBBP	EPG5	FRAS1	DKC1	PIK3CA	SMARCAL1	NPM1	NHP2	SDHD	ZBTB24	SDHB	ACP5	FOXN1	DNMT3B	NOP10	PARN	USF3	PTEN	RMRP	TINF2	WRAP53	KLLN	HELLS	TERT	AK2	RTEL1	AKT1	TBCE	USB1	TYMS	SDHC	CTC1	EP300	TERC	SEC23B	ATM
HP_RECURRENT_HAEMOPHILUS_INFLUENZAE_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_HAEMOPHILUS_INFLUENZAE_INFECTIONS	CFTR	GSTM3	HFE	TGFB1	CLCA4	EDNRA	IL2RG	SCNN1G	SLC11A1	SERPINA1	RPGR	SLC26A9	GCLC	CEACAM3	CEACAM6	SCNN1A	STX1A	CFI	SCNN1B	SLC9A3	SLC6A14	KCNN4	MIF	DCTN4	HMOX1
HP_RECURRENT_PROTOZOAN_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_PROTOZOAN_INFECTIONS	RFXAP	RFX5	IL12RB1	RFXANK	CIITA
HP_COMBINED_IMMUNODEFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMBINED_IMMUNODEFICIENCY	RAG2	IL2RG	EXTL3	AK2	TTC7A	NFKB1	ICOS	IKZF1	TNFRSF13C	DCLRE1C	ADA	PGM3	NFKB2	RAG1	DOCK2	LIG4	KNSTRN	IL7R	PIK3CD	RMRP	JAK3	CD19	PI4KA	MS4A1	ACP5	TNFRSF13B	CR2	IRF2BP2	CHD7	BCL11B	PRKDC	XRCC4	MGAT2	MTHFD1	PNP	BUB1B
HP_RECURRENT_OPPORTUNISTIC_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_OPPORTUNISTIC_INFECTIONS	ADA	PNP	RAG1	IL2RG	NHP2	RAG2	IL7R	ZAP70	JAK3	DCLRE1C
HP_REDUCTION_OF_NEUTROPHIL_MOTILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCTION_OF_NEUTROPHIL_MOTILITY	DNAJC21	EFL1	SRP54	RAC2	CEBPE	SLC35C1	LCP2	SBDS	PMM2
HP_RECURRENT_CANDIDA_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_CANDIDA_INFECTIONS	SLC39A4	CD247	RFXAP	IL12RB1	RFXANK	CD3D	GJB2	ZAP70	BTD	CD3E	CIITA	RFX5	DOCK8	GJB6	IL7R
HP_T_LYMPHOCYTOPENIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_T_LYMPHOCYTOPENIA	RAG2	PIK3CD	PIK3CG	IL2RG	CD247	TBX2	RIPK1	ATM	PRKCD	PTPRC	FAS	FOXN1	RFX5	PGM3	SASH3	DOCK8	SYK	LEPR	CASP10	RFXAP	RAG1	DOCK2	NBN	WAS	KNSTRN	EXTL3	MCM10	IL7	FCHO1	IL7R	NSMCE3	JAK3	FASLG	CD8A	IVNS1ABP	RASGRP1	MYC	IL2RA	ACP5	RAC2	ZAP70	CD3G	LCK	ADA	LEP	NHEJ1	WIPF1	RFXANK	SP110	DNMT3B	UNC119	ITK	EPG5	CIITA	TOM1	MAGT1	IKBKB
HP_INCREASED_B_CELL_COUNT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_B_CELL_COUNT	CASP10	PRKCD	PTPRC	NCKAP1L	FAS	RASGRP1	CARD11	FASLG
HP_RECURRENT_BACTERIAL_SKIN_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_BACTERIAL_SKIN_INFECTIONS	BTK	PSENEN	CYBB	LYST	OTULIN	GJB2	LAMA3	IL2RG	CYBA	UBE2A	LAMC2	ADAM17	UROD	NCF1	EPHB4	LAMB3	GATA1	CARMIL2	IL17RA	UROS	MYD88	EGFR	NCF2	PSEN1	IL10RA	ZAP70	LCP2	DOCK8	CTSC	GJB6
HP_DECREASED_PROPORTION_OF_CD4_POSITIVE_HELPER_T_CELLS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_PROPORTION_OF_CD4_POSITIVE_HELPER_T_CELLS	IVNS1ABP	RASGRP1	MYC	IL2RG	ATM	PRKCD	FAS	LCK	RFX5	PGM3	SASH3	DOCK8	LEP	LEPR	CASP10	RFXAP	WAS	KNSTRN	RFXANK	UNC119	ITK	PIK3CD	EXTL3	EPG5	CIITA	NSMCE3	FASLG	TOM1	IL7R	MAGT1	IKBKB
HP_DECREASED_PROPORTION_OF_CD8_POSITIVE_T_CELLS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_PROPORTION_OF_CD8_POSITIVE_T_CELLS	PIK3CG	ZAP70	CD3G	WAS	IL2RG	WIPF1	NSMCE3	IL7R	EXTL3	CD8A	IKBKB
HP_DECREASED_SERUM_COMPLEMENT_FACTOR_B	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SERUM_COMPLEMENT_FACTOR_B	CFHR3	CFHR1	CFB	CFI	CFH
HP_RECURRENT_GRAM_NEGATIVE_BACTERIAL_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_GRAM_NEGATIVE_BACTERIAL_INFECTIONS	CFTR	C5	GSTM3	CYBB	C6	HFE	IL12RB1	TGFB1	CLCA4	EDNRA	C8B	IL2RG	CYBA	MBL2	SCNN1G	SLC11A1	NCF1	SERPINA1	RPGR	SLC26A9	GCLC	CFB	CEACAM3	CEACAM6	SCNN1A	STX1A	NCF2	CFI	SCNN1B	SLC9A3	SLC6A14	KCNN4	MIF	DCTN4	ITGB2	HMOX1	C7
HP_DECREASED_SERUM_COMPLEMENT_C3	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SERUM_COMPLEMENT_C3	LMNB2	CFHR1	PACS1	CFI	PRKCD	C3	CD46	DNASE1L3	STAT4	IRAK1	TLR7	CFHR3	SPP1	CFH
HP_RECURRENT_SINOPULMONARY_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_SINOPULMONARY_INFECTIONS	ELANE	DNAH9	PIK3CD	ZMYND10	PIK3CG	SPAG1	DNAJB13	TTC12	TFRC	DNAAF11	NFKB1	LRRC56	RPGR	PLCG2	CLPB	DNAI1	GAS8	DNAH11	DOCK8	CFAP221	DNAAF4	OFD1	RSPH4A	RSPH3	BACH2	ATP6V0A2	NEK10	STAT3	DNAL1	HYDIN	CASP8	STK36	SPEF2	CFAP298	ODAD4	RSPH1	CFAP300	CCDC103	MCIDAS	CCNO	RSPH9	GFI1	GAS2L2	DNAAF2	CCDC65	DNAAF3	DNAAF6	TNFRSF13B	CTNNBL1	DNAAF5	NBN	CFTR	DNAAF1	ODAD3	TCIRG1	FOXJ1	CCDC40	NME8	DRC1	SRP54	CCDC39	ODAD1	ODAD2	DNAI2	DNAH1	DNAH5
HP_RECURRENT_NEISSERIAL_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_NEISSERIAL_INFECTIONS	C8B	C5	MBL2	CFB	C6	C7	CFI
HP_IMPAIRED_T_CELL_FUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_T_CELL_FUNCTION	PNP	AK2	UMPS	CD19	ESS2	SEC24C	RASGRP1	DGCR2	GP1BB	ARVCF	CTPS1	DGCR8	SMARCAL1	ICOS	CD3E	JMJD1C	TNFRSF13B	CR2	RREB1	TGFB1	COG6	SLC39A4	TBX1	HIRA	MRTFA	WIPF1	DGCR6	TNFRSF13C	COMT	UFD1	LIG1
HP_ENLARGED_POSTERIOR_FOSSA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_POSTERIOR_FOSSA	PIGN	SEMA3E	AFF3	RPGRIP1	TXNDC15	MYOD1	HYLS1	B9D2	PLPBP	ZIC1	RAB18	ALDH7A1	TCTN2	SMARCB1	CSF1R	DYNC2I1	WASHC5	B4GAT1	PLCH1	FBXO28	SMARCE1	SETD2	TMEM107	CRPPA	PLG	FAR1	FKRP	MBD5	WDR35	FLVCR2	DPYSL5	SMG9	DPH1	ASXL1	ATP6V1A	EDEM3	VPS51	RNF113A	ARID1B	FOXC1	SMARCA4	PRX	GJB2	CPT2	BUB1B	TMEM231	PMM2	POMK	EBP	IFT80	POMT1	TMEM138	DAG1	TCTN1	ACADVL	MUSK	NPHP3	TUBA1A	KRAS	CDC42	DYNC2H1	NDUFC2	MAPKAPK5	TRIP13	CEP290	GTPBP2	NUP88	DHCR7	POMT2	BRF1	NEK8	ATP6V0A2	MKS1	C2CD3	TMEM237	KIF7	KIAA0586	TMEM216	RAC1	KATNB1	LARGE1	DPH5	APC2	CSPP1	ARID1A	PACS2	COG1	IGF2	POLR3A	OPHN1	POMGNT1	WDR73	ALG3	BLTP1	ARMC9	COL4A1	DYNC2I2	B9D1	ATP6V1B2	WDR81	POMGNT2	SMARCC2	EVC2	PHGDH	CDH2	FGFR1	TUBB	CEP120	KCNQ1	EVC	SMARCD1	MID1	IL6ST	GLI3	RXYLT1	PPP1CB	FTO	NRAS	TBC1D24	SH2B1	BUB3	CEP57	B4GALT1	ATP6V1E1	DENND5A	CHD7	TIMMDC1	OFD1	TCTN3	SLC35A2	VRK1	CDKN1C	POGZ	SOX4	B3GALNT2	TMEM67	NSD1	AP1S2	GPC3	PITX1	CCDC22	CTU2	FLNB	SLC5A6	MTM1	GJB6	BANF1	FKTN	CPLANE1	ARID2	SH3PXD2B	DOK7	GPC4	ALDH18A1	MAN2B1	BCOR	POLR2A	ABCC9	USP9X	HRAS	DPF2	SLC18A3	PMPCA	SOX11	PIGU	EXOSC8	ESCO2	MAB21L1	PIEZO2	RAPSN	CC2D2A	KCNQ1OT1	BUB1	CNOT3	RPGRIP1L
HP_CALVARIAL_OSTEOSCLEROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALVARIAL_OSTEOSCLEROSIS	DVL1	ANKH	FAM111A	TBCE	KL	TCIRG1	LRP5
HP_ABSENT_HYPOPLASTIC_PARANASAL_SINUSES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_HYPOPLASTIC_PARANASAL_SINUSES	FUCA1	SFRP4	SIX2	RUNX2	SMCHD1	PDE4D	PRKAR1A	AMER1
HP_CRANIOFACIAL_DISPROPORTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRANIOFACIAL_DISPROPORTION	ZMPSTE24	CA2	IGF2	KCNA1	LMNA	FIG4
HP_CALCIFICATION_OF_FALX_CEREBRI	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALCIFICATION_OF_FALX_CEREBRI	PTCH1	DDR2	PTCH2	SUFU	COL11A1	ABCC6
HP_CRANIOFACIAL_OSTEOSCLEROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRANIOFACIAL_OSTEOSCLEROSIS	ANKH	CLCN7	TGFB1	FAM111A	CSF1R	TCIRG1	PLEKHM1	LRP5	TBCE	AMER1	SOST	DVL1	SLC39A14	KL
HP_FACIAL_HYPEROSTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_HYPEROSTOSIS	PTDSS1	AKT1	AMER1	SOST	GJA1
HP_FLAT_OCCIPUT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLAT_OCCIPUT	UBE3A	ASPM	PEX6	ADSL	SH3PXD2B	MAN1B1	SATB2	TMEM70	CYP27B1	RPS23	PPP1R21	IL11RA	PEX19	PEX14	MAN2B1	SNRPN	PTCH1	PEX16	PEX11B	ZIC1	OCA2	KIF11	OTUD6B	MCTP2	PEX1	EHMT1	PEX12	LEMD3	PEX13	OCRL	PEX26	EZH2	INPPL1	WDR73	TUBB3	SLC35A1	PEX3	METTL23	PEX5	SLC34A3	PEX10	CYP2R1	SLC25A12	RALGAPA1	SYNE1	FIG4	TAF1	DPM1	PEX2	SETD1B	VDR	AMER1	TWIST1	HK1	UBE3B
HP_DECREASED_CALVARIAL_OSSIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CALVARIAL_OSSIFICATION	ALPL	ZMPSTE24	CRTAP	FIG4	COL1A1	TXNDC15	INTU	LAMA5	IFT43	COL1A2	WNT7A	P3H1	PPIB	FGFR2	CREB3L1
HP_DECREASED_CIRCULATING_IGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_IGE	IL2RG	BTK	BACH2	CD40LG	TOM1	CD40	TCF3
HP_ABNORMAL_EPIGLOTTIS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EPIGLOTTIS_MORPHOLOGY	NEK1	DYNC2H1	DYNC2LI1	GLI3	DYNC2I2	FGFR3	PRRX1	FGFR2	FGF10	IFT80	SERPING1	CILK1	DYNC2I1	SF3B4	EIF4A3	C2CD3	SETBP1	KRT14	ASAH1	FOXE1	WDR35	KRT5
HP_SECONDARY_MICROCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SECONDARY_MICROCEPHALY	AMPD2	UBE3A	EXTL3	TSEN2	PCLO	NACC1	C2orf69	CDKL5	PAFAH1B1	CARS2	GLS	GRIA2	GPT2	SLC2A1	VRK1	SNRPN	RNASEH2A	RAB18	FOXG1	ERCC6	ALG1	MBD5	ADAM22	SATB1	ATP6V1A	MECP2	CACNA1B	ATP1A2	RNF113A	DPM2	CC2D1A	MFSD2A	ACO2	PCDH12	ARFGEF2	ATP6V0A2	SLC25A46	LGI3	PSAT1	EIF2B3	EEF1A2	PPT1	EIF2B5	SLC18A2	PUS3	ZEB2	MFF	SMPD4	STAMBP	HNRNPR	CNP	DPM1	EXOSC8	SDHD	SCN1A	CHMP1A	ALG12	RARS2	EXOSC9	CREBBP	PMPCB	GON7	GABBR2	SLC25A19	VPS11	GABRA5	RUSC2	NGLY1	TRAPPC12	ERCC8	TBCD	TSEN54	SLC39A14	QARS1	CLTC	TREX1	EFTUD2	EIF2B1	TRAPPC6B	KIF5C	TUBGCP2	COG6	PYCR2	SLC1A4	EIF2B4	DEGS1	COG1	UBA5	WDR73	CDC42	GRIN2A	ATP10A	GABRB2	BRAT1	WWOX	CCDC88A	DOLK	SMC1A	YRDC	SLC25A12	PLAA	CLP1	MPC1	ASNS	POMK	NTRK2	ACTG1	SLC12A5	TMEM165	PRORP	NDUFA11	FOXRED1	RAB3GAP2	VPS50	FAR1	FTO	PNKP	EXOSC3	TAF2	SEPSECS	COG2	GLYCTK	PTRH2	HTRA2	ATP6V1E1	AGTPBP1	FGF12	VPS53	CDC45	TSEN15	TRAPPC2L	COQ9	TCF4	PLEKHG2	EIF2B2	DHFR	EXOC2	GOT2	TBC1D20	MED17	PUF60	TSEN34	TOE1	CLPB	WDR37	MGAT2	CERT1	SNAP29	NEXMIF	COG7	HNRNPH2	SCN8A	PARS2	PPP1R12A	NDUFS1	EMC1	MICOS13	HSPD1	SMC3	NTNG1	CTNNA2	OCA2	PIGA	IQSEC2	SPTAN1	NAPB	CASK	LAMB2	MDH1	JAM3	RNASEH2C	DCX	PLPBP	TRAPPC9	ZNHIT3	ALG9	ZSWIM6	SLC25A22	PNPO	TRIO	VARS1	COG8	ARNT2	TBC1D24	EP300	ACBD5
HP_PROMINENT_METOPIC_RIDGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_METOPIC_RIDGE	GNPTAB	HNRNPK	ADSL	H3-3B	ERCC5	ZNF292	KCNJ11	KDM4B	NARS2	CLCN3	GJA5	IL11RA	STAT3	ERMARD	HNRNPU	STXBP1	ERCC2	INTU	RTTN	PURA	NAA10	ERCC1	ABCC8	PDX1	CDKN1C	IFT140	FOXG1	LMX1B	GJA8	PPP2R1A	SMG9	ASXL1	ZNF462	ZFHX4	NSRP1	TOGARAM1	INS	IGF2	SRCAP	NOTCH3	ACTB	SMARCD1	RNU4ATAC	ERCC6	ADAMTSL1	ALG9	ADARB1	KANSL1	MAP1B	KCNQ1OT1	KDM5B	KCNQ1	NUP188	GCK	MAPK1	CDC6	ACTG1	MID1	TBCK	MAF	COL25A1	TWIST1	SC5D
HP_POSTNATAL_MACROCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTNATAL_MACROCEPHALY	PAK1	PTEN	FAM111A	GNB1	MED12
HP_REFRACTORY_ANEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REFRACTORY_ANEMIA	GREM1	BMPR1A	PTEN	CP	DDX41	TBXAS1
HP_CHRONIC_MYELOGENOUS_LEUKEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_MYELOGENOUS_LEUKEMIA	JAK2	THPO	MPL	BCR	ABL1
HP_INCREASED_MEGAKARYOCYTE_COUNT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_MEGAKARYOCYTE_COUNT	SH2B3	TET2	MPL	JAK2	CALR	TP53	SF3B1
HP_INCREASED_MEAN_CORPUSCULAR_VOLUME	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_MEAN_CORPUSCULAR_VOLUME	MDM4	RPS29	RPS20	DUT	RPS7	RPL27	RPL35A	TINF2	MTRR	DNAJC21	RACGAP1	RPS26	RPL26	RPS17	HBB	RPS24	EFL1	SRP54	MMADHC	GATA1	KIF23	CBLIF	RPS10	SBDS	RPL5	TSR2	KCNN4	RPS27	ADA2	RPL35	SAMD9L	RPS28	SAMD9	PIEZO1	SLC4A1	RPS19	TERT	RPL15	ABCB6	RPL18	TERC	RPL11	RPL31	LIG1	RPS15A	ANKRD11
HP_DISSEMINATED_INTRAVASCULAR_COAGULATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISSEMINATED_INTRAVASCULAR_COAGULATION	PML	STAT5B	IRF2BP2	PROS1	CD46	CFI	RASA1	FIP1L1	NPM1	HELLPAR	STAT3	LPIN1	LIPA	RARA	NABP1	ZBTB16	NUMA1	NFS1	NLRC4	BCOR	MT-CO3	SERPIND1	TBL1XR1	RYR1	CFH	IL6ST	PRKAR1A	MT-CO1
HP_PYRIDOXINE_RESPONSIVE_SIDEROBLASTIC_ANEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PYRIDOXINE_RESPONSIVE_SIDEROBLASTIC_ANEMIA	BRCA1	BRCA2	BRIP1	ERCC4	FANCB	FANCL	MAD2L2	FANCA	UBE2T	RAD51	RFWD3	FANCM	FANCI	RAD51C	XRCC2	PNPO	PALB2	FANCC	FANCD2	FANCE	FANCF	SLX4	FANCG
HP_LYMPHOPROLIFERATIVE_DISORDER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LYMPHOPROLIFERATIVE_DISORDER	NRAS	MYD88	PRKCD	WAS	ITK	LRBA	CTPS1	SMARCAL1	CD27	IL2RG	ADA2	ZAP70	KRAS	MCM4	CD70	MAGT1
HP_SPONTANEOUS_HEMOLYTIC_CRISES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPONTANEOUS_HEMOLYTIC_CRISES	SLC4A1	ANK1	GPI	SPTA1	SLC2A1	SPTB	EPB42
HP_BONE_MARROW_HYPOCELLULARITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BONE_MARROW_HYPOCELLULARITY	MDM4	DCLRE1B	RTEL1	SF3B1	GATA2	SBDS	NHP2	MYSM1	LBR	FAS	MAD2L2	DDX41	ERCC4	IFNG	TET2	FANCD2	WRAP53	VPS33A	BRCA2	TERT	WDR19	TERC	ERCC6L2	SRP54	CLPB	ACD	RASGRP1	DKC1	GNAS	ADH5	NOP10	FANCI	PARN	SAMD9	CLCN7	TINF2	FANCC	DNAJC21	FANCL	CTC1	TLR8	PRF1	TYMS	IVD	UBE2T	SRP72	PRKCD	FLI1	PGM3	RPL26	CASP10	TBXAS1	EFL1	ADA2	BRIP1	USB1	FASLG	ZCCHC8	FANCF	SMARCAL1	NPM1	NBN	RPS14	TGFB1	CA2	RPA1
HP_REDUCED_PROTEIN_C_ACTIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_PROTEIN_C_ACTIVITY	ALG6	DPM1	MPI	B4GALT1	GGCX	NGLY1	PROC	ALG8	ALG12
HP_MYELOPROLIFERATIVE_DISORDER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYELOPROLIFERATIVE_DISORDER	ALAD	PDGFRB	JAK2	BCR	KIT	GATA2	CALR	RUNX1	SRSF2	PDGFRA	SH2B3	TET2	ASXL1	ABL1	MPL	GATA1
HP_MEGAKARYOCYTOPENIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEGAKARYOCYTOPENIA	MPL	ZNFX1	GNA14	HOXA11	KIF15
HP_CHRONIC_LYMPHATIC_LEUKEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_LYMPHATIC_LEUKEMIA	PIK3R1	RNASEH2C	TREX1	LSM11	RNU7-1	IFIH1	KIT	SRSF2	SAMHD1	TET2	ASXL1	ADAR	RNASEH2A	RNASEH2B	MEFV
HP_ABNORMALITY_OF_THE_METOPIC_SUTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_METOPIC_SUTURE	GNPTAB	HNRNPK	CDK8	FGFR1	ADSL	H3-3B	ERCC5	ZNF292	KCNJ11	KDM4B	NARS2	CLCN3	SETBP1	GJA5	IL11RA	STAT3	ERMARD	HNRNPU	ERF	GPC4	STXBP1	SON	ERCC2	FGFR2	INTU	RTTN	PURA	NAA10	PIGA	PCDHGC4	ERCC1	ABCC8	PDX1	CDKN1C	ASXL3	IFT140	FOXG1	LMX1B	GJA8	GPC3	PPP2R1A	WDR35	SMG9	ASXL1	ZNF462	ZFHX4	NSRP1	PPFIBP1	TOGARAM1	INS	IGF2	SRCAP	NOTCH3	ACTB	TMEM216	PTCH1	DDB1	OTUD5	SMARCD1	FREM1	RNU4ATAC	ERCC6	ADAMTSL1	HERC1	ALG9	ADARB1	GLI3	PIGT	KANSL1	MAP1B	KCNQ1OT1	KDM5B	KCNQ1	SIX2	NUP188	GCK	MAPK1	CDC6	ACTG1	MID1	TBCK	MAF	COL25A1	TWIST1	SC5D
HP_CHRONIC_LEUKEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_LEUKEMIA	PIK3R1	RNASEH2C	JAK2	WIPF1	TREX1	LSM11	RNU7-1	IFIH1	KIT	SRSF2	THPO	SAMHD1	TET2	ASXL1	ADAR	MPL	BCR	RNASEH2A	RNASEH2B	WAS	ABL1	MEFV
HP_ABNORMALITY_OF_BONE_MARROW_CELL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_BONE_MARROW_CELL_MORPHOLOGY	MDM4	LIG4	DCLRE1B	UNC13D	IRF2BP2	ANKRD26	ATM	ITCH	TCN2	ACP5	SF3B1	KIT	GATA2	SBDS	FANCA	FIP1L1	NHP2	LBR	TET2	SAMD9L	MPL	IRF8	UBA1	ZNF699	ERCC4	RNASEH2A	STN1	PRF1	RFXAP	FANCD2	TERT	RAB27A	SLCO2A1	HAVCR2	TERC	ERCC6L2	IFIH1	TCIRG1	ASXL1	JAK2	ACD	STAT5B	GFI1	RASGRP1	HPGD	FANCE	GNAS	ADH5	RAC2	NOP10	NUMA1	RECQL4	TNFRSF1B	PARN	OSTM1	SHOC2	SAMD9	CLCN7	STXBP2	MMAA	RTEL1	TINF2	RFXANK	FANCC	MYH9	FANCL	GP9	VPS33A	PCCB	PRKAR1A	FLNA	RPS14	ALPK1	XIAP	LMBRD1	SLC46A1	LRBA	CCND1	SRP72	MYSM1	IFNG	RPL26	SRC	SLX4	BACH2	TBXAS1	BRIP1	GFI1B	USB1	CTC1	DKC1	FASLG	ZCCHC8	FANCF	SMARCAL1	NPM1	PCCA	ATR	SLC35A1	RARA	GBA1	SCARB2	GNA14	MRPS7	BCOR	XRCC4	HLA-DRB1	SRP54	MAN2B1	PML	ELANE	WAS	DUT	CTLA4	GP1BB	PTPRC	IKZF1	FANCB	FAS	MAD2L2	CLPB	DDX41	RFX5	NABP1	ZBTB16	GP1BA	COQ2	WRAP53	BRCA2	HOXA11	TP53	GATA1	MPIG6B	WDR19	SRSF2	NBEAL2	EVC2	FARSB	DHFR	MYC	CALR	STAT3	MMADHC	DNAJC21	FANCI	KIF15	CSF3R	COG6	GLI1	STX11	SP110	ITK	TLR8	TNFRSF4	RFWD3	SLC7A7	SH2B3	TYMS	IVD	CUBN	UBE2T	CD27	PALB2	PIGA	PRKCD	CXCR2	FLI1	LPIN2	PGM3	MTRR	CASP10	MMAB	CD28	NLRC4	PSTPIP1	JAGN1	SH2D1A	SMARCD2	ZNFX1	AMN	EFL1	CBL	ADA2	DNASE2	TCF3	RUNX1	LYST	RPL18	CXCR4	NBN	DYNC2LI1	TGFB1	NRAS	ANAPC1	TNFSF11	MTHFD1	TBL1XR1	NAXD	CA2	CIITA	EVC	KRAS	PRKACA	RPA1	TALDO1	PRKACB
HP_MULTIPLE_RENAL_CYSTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_RENAL_CYSTS	DNAJC30	BCL7B	MLXIPL	VPS37D	DHX16	SEC24C	NOTCH2	NCF1	EIF4H	HIRA	TBX1	GTF2IRD2	LIMK1	FKBP6	TSC1	METTL27	RFC2	TSC2	TBL2	CCND1	PEX13	TMEM270	OCRL	BMPER	SEC63	GP1BB	LRP5	ARVCF	GTF2I	STK11	JMJD1C	GTF2IRD1	COL4A1	RREB1	BUD23	CLIP2	VHL	SALL1	PMM2	FLNB	COMT	DACT1	UFD1	ALG5	PRKCSH	STX1A	BAZ1B	ELN	PKD2
HP_ABSENCE_OF_RENAL_CORTICOMEDULLARY_DIFFERENTIATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENCE_OF_RENAL_CORTICOMEDULLARY_DIFFERENTIATION	IFNG	H4C3	INVS	PBX1	TSC2	PKHD1	PAX2
HP_REDUCED_RENAL_CORTICOMEDULLARY_DIFFERENTIATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_RENAL_CORTICOMEDULLARY_DIFFERENTIATION	CEP290	TMEM67	DHX16	PKHD1	VPS33B	DZIP1L	DCDC2	NIPBL	IFT140	BSND	CLCN7	TULP3	PDCD6IP
HP_RENAL_MAGNESIUM_WASTING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_MAGNESIUM_WASTING	FXYD2	CLDN16	KCNJ10	SLC12A3	CLDN19	ATP1A1	IFT122
HP_HEMOLYTIC_UREMIC_SYNDROME	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMOLYTIC_UREMIC_SYNDROME	CFHR1	CFB	MTRR	ADAMTS13	MMACHC	CFI	C3	CD46	CFHR3	THBD	DGKE	PRDX1	ZNFX1	TMEM165	CFH
HP_DUPLICATION_OF_RENAL_PELVIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUPLICATION_OF_RENAL_PELVIS	KCTD1	GPC4	GPC3	ZEB2	SLC6A17
HP_RENAL_CELL_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_CELL_CARCINOMA	NOD2	VHL	HNF1B	PRCC	SDHB	BRAF	FH	TSC1	AKT1	AURKA	BUB1	DCC	SDHD	BAP1	FOXE1	HNF1A	APC	MET	USF3	SRC	PTEN	FLCN	TMEM127	TLR2	RAD54B	NRAS	MINPP1	TSC2	PTPRJ	HABP2	CCND1	MDH2	BUB1B	COL14A1	OGG1	DLC1	RET	LMNA	PBRM1	SEC23B	CTNNB1	TFE3	NF1	PDGFRL	ARMC5	PIK3CA	PTPN12	SDHC	STK11	MCC	IFNG	SLC25A11	CHEK2	DICER1	TP53	AAGAB	KIF1B	MAX	CDC73	RNF139	KEAP1	KLLN	GNAS	FGFR3	SDHA	PLA2G2A	MLH3	EP300	BAX	AXIN2	DLST	SDHAF2
HP_SPOTTY_HYPERPIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPOTTY_HYPERPIGMENTATION	PRKAR1A	FERMT1	KRT14	PDE11A	PDE8B	LYST	SRD5A3	CRIPT	PRKACA	KRT5	BANF1
HP_HYPERPIGMENTATION_IN_SUN_EXPOSED_AREAS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPIGMENTATION_IN_SUN_EXPOSED_AREAS	OCA2	UROD	DSTYK	HPS1	KRT14	MC1R	HFE	POLH
HP_PATCHY_PALMOPLANTAR_HYPERKERATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATCHY_PALMOPLANTAR_HYPERKERATOSIS	GJB3	KDSR	GJB4	TRPV3	GJA1	DSP
HP_SPOTTY_HYPOPIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPOTTY_HYPOPIGMENTATION	UBE2A	CRIPT	ABCC9	KRT14	EBP	FERMT1	BLM	KRT5	ABCB6
HP_GENERALIZED_HYPERKERATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_HYPERKERATOSIS	PTEN	AKT1	KLLN	PIK3CA	SDHD	SDHB	SDHC	GJB3	ZMPSTE24	LMNA	FUCA1	USF3	SEC23B
HP_LARGE_CAFE_AU_LAIT_MACULES_WITH_IRREGULAR_MARGINS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_CAFE_AU_LAIT_MACULES_WITH_IRREGULAR_MARGINS	CDKN2C	CDKN2B	CDKN1B	MEN1	CDKN1A	GNAS
HP_ABNORMAL_TRACHEOBRONCHIAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TRACHEOBRONCHIAL_MORPHOLOGY	UBA2	MGP	TERT	SEMA3E	FANCB	VPS37D	RASGRP1	POLA1	ARSL	UBE2T	DEAF1	LBR	SERPINA1	LTBP4	ZNF699	HYLS1	DOCK8	TCF3	RSPH3	SLC41A1	FRAS1	EXTL3	STK36	EHMT1	GNPTAB	DICER1	DRC1	FCHO1	LRRC56	CFAP300	PIK3R1	GAS8	DHCR7	STN1	FASLG	IRF9	SLC12A2	SLC26A2	CCDC65	RAC2	ZEB2	PARN	KAT6A	NFKB1	DNMT3B	ODAD3	UNC119	CEACAM6	CYBB	ABCA3	FGF20	FREM2	PALB2	FCGR2A	FOXI1	HK1	DNAH1	DNAH5	MAGT1	KCNJ10	IGHM	SPAG1	USP9X	MLXIPL	BRCA2	KMT2C	LRBA	CYBC1	DNAI1	BRAF	CFAP221	GCLC	RIN2	RSPH9	SCUBE3	PGM3	IL6ST	SCNN1A	FNIP1	FKBP6	SCNN1B	ARNT2	ZMYND10	FLII	RAD51C	TRIM2	HRAS	DPP9	CTC1	IRF1	SOX3	CD8A	RPL5	MCIDAS	CD19	HFE	MAD2L2	GAS2L2	EDNRA	CHD7	TP73	ICOS	NPM1	FANCA	RAI1	SLC11A1	DNAAF5	PRRX1	LTBP3	COL4A5	CLIP2	BRIP1	RSPH4A	FOXF1	TRRAP	FGFR2	SFTPA1	RFWD3	NEK10	MIF	MID1	CFAP298	CYP2A6	IGKC	PIK3CD	SOX9	FLNB	MYCN	EBP	BLNK	MYH11	RET	IL21R	CARMIL2	OFD1	NBN	WRAP53	POLR1D	SLC26A4	TCOF1	KCNN4	GMNN	TAPBP	ODAD4	SALL1	KRT5	POLE	FBLN5	MUC5B	DNAAF6	BRCA1	SFTPC	CFTR	RAC1	ATP11A	KRAS	EGFR	SLC26A9	WNT3	DNAAF1	MPEG1	PI4KA	KIF22	WNT9B	STX3	CASP8	SLC6A14	POR	BAZ1B	DNAI2	RMRP	AFF4	ELN	ZNF341	BTK	NCKAP1L	COL2A1	RIPK1	BTNL2	TTC12	WDR1	ATM	RPGR	MAP3K8	DCHS1	EIF4H	WDR26	B3GALT6	ERCC4	PAK2	DSP	CARD10	ZIC3	NFKB2	CCDC103	CCNO	FGFR1	NDUFA6	TGFB1	ARHGEF1	SNRPB	CXCR4	CEACAM3	STX1A	AMER1	PRKCD	KRT14	HLA-DPB1	CCDC39	FANCC	NCF4	TERC	GRIP1	DNAJB13	PIK3CA	BLM	WNT7A	SCNN1G	RTEL1	STAT1	PDGFRB	IRF8	DNAAF4	IRF2BP2	POLR1C	ALDH18A1	FANCD2	SLC9A3	METTL27	PAX3	CD79A	MYRF	GREB1L	CLCA4	FAM13A	NCF1	NHP2	TAP2	SLC22A18	GTF2IRD1	TNFRSF13B	HLA-DRB1	NOP10	CYBA	AHDC1	IL17RA	SMARCA2	TINF2	IL2RG	FOXJ1	NME8	FANCL	TPP2	NME5	PROKR2	DNAH11	SLC34A2	ODAD2	ODAD1	FAT4	PAICS	BCL7B	LMBRD1	IDS	FBN2	LAT	IQSEC2	SYK	GLMN	IDUA	BACH2	HYDIN	SPEF2	TNFRSF13C	RSPH1	SMAD4	DCTN4	RFC2	USB1	TBL2	ERF	IL10RB	GTF2I	DNAAF2	KIF7	FANCI	BMPER	CR2	RALGAPA1	CD79B	XRCC2	ADAMTSL2	B2M	DNAJC30	DNAL1	PCNT	SLC29A3	CCDC40	SFTPA2	DNAAF11	HESX1	SOX2	DKC1	DNAAF3	NCF2	FANCF	HDAC4	TAFAZZIN	COL4A6	POLR1B	BUD23	LRRC8A	CTLA4	TYMS	HMOX1	DNAH9	RAB3GAP2	GSTM3	NOTCH3	TAP1	EMC1	OTX2	FANCM	SLX4	KANSL1	SASH3	TTC26	GTF2IRD2	LIMK1	ERCC6	DDRGK1	MS4A1	IGHG2	CD81	PRKN	PPP2R1B	TOM1	TMEM270	DDR2	EMILIN1	ITGA8	TNFSF12	ORC4	FANCE	IGLL1	TONSL	ORC6	TET2	FANCG	ERBB2	KEAP1	HOXD13	GFRA1	RAD51	WBP11	RSPO2	MAP3K7
HP_APLASIA_HYPOPLASIA_OF_THE_FEMUR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_FEMUR	CPLANE1	ALG12	IDUA	POLR3A	SLC10A7	MTX2	COL2A1	DDRGK1	BHLHA9	CFAP410	B3GALT6	MMP9	AIFM1	IFNGR1	FN1	PRG4	CCN6	SHOX	NANS	POP1	WNT7A	MEG3	RNU4ATAC	CANT1	TNFRSF11A	SALL4	TRPV4	AMMECR1	RTL1	CAMK2A	IFT140	TBX4	SLC26A2	RUNX2	SUCLG1	LBR	TBX15	COMP	FGFR3	DLK1	AGPS	COL11A1	RSPRY1	TONSL	PUF60	SLC39A13	PEX5	TRAPPC2	TAPT1	TRAF3IP1	CHST3	GDF5	PIK3C2A	MATN3	EXOC6B	POC1A	CHD4	RAD21	CTC1	FLNB	IHH	TMEM67	XYLT1	BMPR1B
HP_ACCELERATED_SKELETAL_MATURATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACCELERATED_SKELETAL_MATURATION	SLC10A7	ALMS1	ASXL2	PTH1R	GPC4	INPPL1	MKRN3	AGPAT2	CSGALNACT1	CYP11B1	EZH2	NSD1	PRKAR1A	GPR101	SUZ12	CANT1	FOS	PDE4D	AIP	MEN1	SHANK3	LEPR	PPARG	BSCL2	ACAN	DDOST	ABCC9	TCF20	SETD2	CDKN1C	ARCN1	EED	SLC26A2	GPC3	XYLT1	KMT2A	CYP19A1	DDX6	APC2	TRPS1	TSHR	IGF2	SMARCA2	LHCGR	GNAS	GLI3	CHST3	PRKG2	MC2R	PTCH1	TET3	B3GAT3	KCNJ8	B4GALT7	GPX4	HSD11B1	LEP	NFIX	SLC35D1	INSR	CAVIN1	RNF135	KCNQ1OT1	CAV1	KCNQ1	RMRP	H1-4
HP_BILATERAL_CAMPTODACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_CAMPTODACTYLY	ZNF407	POLR3GL	NSD1	FBXO28	SETD2	APC2
HP_THORACOLUMBAR_KYPHOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACOLUMBAR_KYPHOSIS	EXTL3	CCN6	GLB1	POP1	FLNB	MGAT2	FGFR3	KIF22	NEPRO	GUSB	SLC26A2	FBXO28	CDH11	AMER1	GNPTAB	NPR2	MAN2B1	LHX3	GBA1	MED12L	LBR	COL2A1
HP_BROAD_LONG_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_LONG_BONES	IFT122	HSPG2	CTCF	HS2ST1	B3GALT6	FGFR2	GPC4	FGFR1	NSD1	ACAN	FLNA	COL11A1	EP300	MEGF8	COL2A1	MEG3	RNU4ATAC	EXTL3	AMMECR1	GLI3	SUMF1	ZNF141	EFNB1	TBX5	LIG4	SLC25A22	G6PC3	MED12	COL10A1	SCN2A	GNAO1	SLC26A2	HNRNPR	FGFR3	OTUD6B	ADAMTS10	TWIST1	COL1A2	CREBBP	RAB23	GJA1	USP9X	SATB2	DVL1	TRIM8	BGN	FGF9	SUZ12	PSMD12	SMO	PIGQ	KNSTRN	GNAS	PIK3CD	ARX	DMXL2	ALX4	EED	DVL3	INPPL1	NEPRO	FLNB	PRKG2	IFIH1	KCNH1	TMEM251	GATAD2B	PDE4D	PRKD1	SIAH1	GDF5	BICRA	PTEN	GPC6	SIK1	XYLT1	ROR2	FBN1	KCNA1	NSUN2	CDKL5	EXOSC2	GATA4	SCN1B	NOG	EZH2	DHX30	SNIP1	BMPR1A	HPGD	SHOX	PCDHGC4	GRM7	MEIS2	ABCC9	SALL4	WDR19	DNMT3A	SETD5	SALL1	RBM8A	DLK1	PACS1	H3-3A	SMARCA2	HOXD13	MAN2C1	RAB33B	WNT5A	CHST3	DNM1L	KCNJ8	GPC3	KIF22	BPTF	SMOC1	PYCR2	GJA5	FLI1	CASK	BMP2	TTC26	MAP3K7	HHAT	RTL1	NPR2	NXN	GJA8	GRIN1	RLIM	COL1A1	DDR2	WLS	SRCAP	PIGP	MSX2	NEUROD2	B3GAT3	PUF60	MED25	SLC35D1	POGZ	ADNP	DACT1	PNKP
HP_ABNORMAL_VERTEBRAL_SEGMENTATION_AND_FUSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VERTEBRAL_SEGMENTATION_AND_FUSION	FLNA	MEOX1	VANGL1	FUZ	BMPER	GDF6	GDF3	SALL4	CHN1	MAFB	FGD1
HP_POSITIONAL_FOOT_DEFORMITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSITIONAL_FOOT_DEFORMITY	IGHMBP2	EOGT	CHRM3	KAT6B	SEMA3E	HSPG2	HAAO	RPGRIP1	GPC4	GRIA2	LBR	KYNU	FBN1	SNCA	ZNF699	GAN	HYLS1	B9D2	MEGF8	ADGRG6	IPO8	CANT1	SETD2	COQ8A	SALL4	EHMT1	GNPTAB	PLOD1	RYR1	NSD2	EDEM3	ERBB2	DHCR7	PEX26	MFSD2A	GLI3	ATP6V0A2	GP1BB	TWIST2	SLC26A2	MYH8	DYNC2H1	LIMS2	ATP6V1E1	ZIC3	TAF8	TBC1D23	EXT1	B4GALT7	DOCK6	RREB1	NALCN	NKAP	TPM2	ALG3	SKI	RBM10	UNC80	SMC1A	TAF1	RINT1	PIEZO2	DYM	LAMA5	TCTN1	GDF5	TP63	COL6A2	BIN1	BMPR1B	MYH3	ALG12	CREBBP	TNNI2	REEP1	ERCC5	NADSYN1	HSD17B4	ERGIC1	NOTCH1	CHRNG	TRPS1	TXNDC15	CHN1	DST	GLE1	RUSC2	VIPAS39	WARS2	CEP290	FGD4	KIDINS220	NEK8	TBX1	SCYL1	VPS33B	TGFB2	MKS1	MYL2	ATAD3A	TRIM2	HRAS	HNRNPK	APC2	KDM5C	JPH1	COG1	BAP1	POLR3A	FBXO7	HK1	BRPF1	TMTC3	CHD7	TCTN2	ATR	ATP6V1A	PMP22	MED13L	NEK9	RECQL4	MTTP	IMPDH2	HACD1	USP8	EVC2	KANSL1	ZC4H2	CTDP1	BICD2	DHCR24	MYBPC1	VWA1	MAFB	B3GALT6	ZNF148	H1-4	SATB2	MAN2B1	SC5D	STAC3	COL6A3	SOX9	RAD21	DLAT	FLNB	LETM1	CPLX1	DHX16	EBP	MSX1	SPTBN1	PIGB	MYO9A	GDAP1	ERMARD	EZH2	KIF1A	STXBP1	PLA2G6	PRUNE1	B9D1	GPX4	RIPK4	TCTN3	GSC	COL3A1	LMNA	DSE	SALL1	FBLN5	HSPB1	SAMD9	FKBP10	TMEM67	NSD1	DGCR8	DONSON	RBPJ	ARHGAP31	SCARF2	REV3L	IL6ST	AP4S1	TGDS	GPC3	CHST3	PYCR1	ERCC6	TBX15	MTRFR	MYT1L	PTRH2	SPEG	PI4KA	ATRX	NR4A2	SELENON	MTMR2	CTU2	PLXND1	COMT	POLR3GL	SF3B4	FUZ	EP300	SEC24C	NEB	FLI1	DCHS1	SMAD3	RSPO2	SPECC1L	SLC25A19	VANGL1	ARSI	ZSWIM6	MCTP2	C12orf57	FLNA	COG4	HBA2	ITGA7	GJA8	GUSB	DPYS	ALDH18A1	ACTA1	TRIP11	IRF6	TGFBR2	SYNE1	COL5A1	ALG8	ENTPD1	AMER1	FKTN	SMARCAL1	TGFBR1	PPP3CA	COL6A1	RPGRIP1L	BRD4	ADAT3	MAP3K20	HBA1	CLCN3	WNT7A	EIF2S3	FA2H	POLRMT	DOK7	COL5A2	MYMX	MEGF10	EXOC6B	MYMK	KMT5B	FOXG1	MYPN	TTN	TMEM107	ATAD1	CTBP1	AMMECR1	DLL4	AP4B1	HDAC8	TRPV4	FGFRL1	SMOC1	COL1A2	PEX5	CCDC47	TBX4	NDE1	DES	SMARCA2	PEX1	DGCR6	FANCL	GZF1	SNX14	OTUD6B	MYL11	FBN2	MAPK1	ECEL1	KY	LMBR1	CHMP1A	FAT4	PAICS	EEF1A2	TRAIP	PSAT1	RAB23	TNNT3	SEC31A	LMBRD1	MPZ	COL12A1	GTPBP2	DYNC1H1	ZFYVE27	SUZ12	SH3TC2	NEFL	LMX1B	RAB11B	SLC6A9	CTH	TH	TMEM237	TMEM216	CD96	CC2D2A	COG8	SLC35D1	TMCO1	TGFB3	WDR73	BLTP1	MUSK	IHH	IFIH1	BMPER	PIGG	NECTIN1	TFE3	CCBE1	COL1A1	ALDH1A2	NKX3-2	CEP55	PEX2	NELFA	EVC	LIFR	CSPP1	ESCO2	FKBP14	ESS2	ELN	DGCR2	SETBP1	SNRPN	ERCC2	PTEN	COLQ	NDRG1	HIRA	AP4E1	EIF4A3	SLC35A2	GLB1	CACNA1C	VRK1	RBM8A	POR	L1CAM	HACE1	MAN2C1	ARVCF	PUF60	TOR1A	PDHA1	ORC1	FGD1	SMC3	ALG14	SYT1	RAI1	TAFAZZIN	GCH1	EED	SBF2	PITX1	PLEKHG5	ITGA8	SHROOM4	TWIST1	TMEM231	LONP1	LGI4	RAB3GAP2	PLOD2	SH3PXD2B	GJA5	LAMB2	CHST14	TPM3	UBE2A	DMPK	BCOR	NIPBL	PLOD3	ERCC1	ANK1	CRIPT	COL2A1	AP4M1	CRLF1	TSPOAP1	ABHD16A	JMJD1C	OTUD5	B3GAT3	NT5C2	GAD1	ORC6	OFD1	GORAB	ALG9	CLTCL1	SMS	MYH7	FIBP	UFD1	MAP3K7
HP_THORACIC_KYPHOSCOLIOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACIC_KYPHOSCOLIOSIS	CHRNE	PYCR2	PCGF2	ITCH	SOX5	CHRNB1	CHRNA1	DOK7	SPRTN	SCN4A	DES	LRP4	ZMPSTE24	IARS2	LMNA	NKX3-2	CHRND	AK9	PLOD1	RAPSN	COL13A1	AGRN	MUSK
HP_JUVENILE_RHEUMATOID_ARTHRITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JUVENILE_RHEUMATOID_ARTHRITIS	HLA-DRB1	LACC1	ACP5	MIF	IL6	DCLRE1C
HP_DISTAL_ARTHROGRYPOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_ARTHROGRYPOSIS	FIG4	ACADM	NRCAM	TNNI2	MYH8	REEP1	GLI3	ADGRG1	MYO9A	CHST14	SRPX2	CCDC47	PIEZO2	MYOD1	YY1	MYBPC1	PI4KA	ATAD1	MED13L	FBN2	LGI4
HP_JOINT_HYPERFLEXIBILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_HYPERFLEXIBILITY	DNAJC30	NSUN2	VPS37D	PCNT	PRDM5	CUL4B	EZH2	PAK2	COL3A1	FBN1	BCR	KDM6A	KMT2D	CUL7	NSD1	CTNND2	ALDH18A1	NRAS	COL18A1	COL11A1	HIRA	ADAMTS2	ORC1	CBL	ATR	SEC24D	TGFBR1	PLOD1	C1R	RRAS2	METTL27	LMNA	UPF3B	ENPP1	XYLT1	CDT1	TBX1	B4GALT7	SOS2	NUP85	ORC6	CSGALNACT1	NOTCH3	SLC9A6	GP1BB	LONP1	IFT52	FLNA	ARVCF	ADAMTSL2	COL2A1	IPO8	COL1A2	EFNB1	TGDS	PTPN11	FGD1	LIG4	SPRED2	GTF2IRD1	SLC6A8	TGFBR2	EXT1	TAB2	HDAC4	SLC26A2	COL9A1	PYCR1	RREB1	CCDC8	PIK3CA	WDR35	TRIP11	MED12	RRAS	MRAS	OBSL1	BUD23	PIK3R1	EED	XYLT2	UBE3A	RIT1	NFIX	RASA2	ORC4	HNF1B	COMT	RAF1	COL9A2	VPS37A	BAZ1B	RMRP	ELN	SMOC1	CDC6	ZDHHC9	BCL7B	TNXB	USP9X	IFT122	MLXIPL	SEMA5A	TRAIP	SEC24C	LZTR1	SEC23A	VPS13B	WASF1	NOTCH2	RPS6KA3	TRPS1	NCF1	PHF6	P4HB	LOXL3	STAT3	FGFR3	SUZ12	ATRIP	CANT1	ABCC6	CRKL	PAX2	EIF4H	COL1A1	IFT43	PLK4	GTF2IRD2	TGFB2	LIMK1	RYR1	CDC45	C12orf57	FKBP6	WDR19	RFC2	HOXD13	RBBP8	LBR	KAT6B	TBL2	TMEM270	OCRL	HRAS	KRAS	COL9A3	ZNF469	SATB2	FLNB	GTF2I	JMJD1C	PTCH1	GDF5	ATP7A	SLC2A10	PTDSS1	CLIP2	GORAB	GMNN	MAPK1	SOS1	PTEN	ANTXR1	CENPE	CENPJ	UFD1	NPR2	STX1A	SKI	PTHLH	C1S	CEP152
HP_MULTIPLE_ENCHONDROMATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_ENCHONDROMATOSIS	PTPN11	IDH1	POLR1B	POLR1C	POLR1D	TCOF1	IDH2	PTH1R	COL2A1
HP_2_3_TOE_CUTANEOUS_SYNDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_2_3_TOE_CUTANEOUS_SYNDACTYLY	DEAF1	FGF16	PRKD1	GABRA3	RPL10	MCTP2	MECP2	CAMTA1	TRRAP	CACNA1C	SCARF2	NECTIN4	DHCR7	BCOR	TP63
HP_LETHAL_SKELETAL_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LETHAL_SKELETAL_DYSPLASIA	SLC26A2	DYNC2I2	TRIP11	IFT80	DYNC2H1	LBR	WDR35	DYNC2I1	COL2A1	PTH1R
HP_SHORT_TIBIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_TIBIA	BMPR1B	ALG12	LMBR1	DLK1	NEK1	FLNB	GDF5	DONSON	LIFR	SHOX	SHH	HYLS1	GLI3	MEG3	EIF4A3	SLC35A2	INTU	LAMA5	GPC6	RTL1	IHH	TCTN3	SMOC1
HP_AVASCULAR_NECROSIS_OF_THE_CAPITAL_FEMORAL_EPIPHYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AVASCULAR_NECROSIS_OF_THE_CAPITAL_FEMORAL_EPIPHYSIS	TRPS1	COMP	COL2A1	RAB3GAP2	CREBBP	TRPV4	DVL1	WNT5A	ADAMTSL2	TONSL	COL1A2	TREX1	INPP5K	FN1	UFSP2	SRCAP	EXT1	SLC2A10	SIL1	COL1A1	ADAMTS2	MATN3	UNC45A	TINF2	DVL3	FZD2	ATP7A	EP300	SKIC3	NEK9
HP_LOWER_LIMB_JOINT_CONTRACTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_LIMB_JOINT_CONTRACTURE	SPG11	EIF5A	ADAT3	ERCC6	MAP3K20	FKRP	KAT6B	HLA-DRB1	PI4KA	CFL2	GJB2	HS2ST1	TMEM43	POMT1	ZBTB20	FBN1	FKTN	GLI3	IPO8	OPA1	PLEC	TTN	BCOR	SETD2	EMD	PDX1	SLC12A6	RYR1	KIAA0319L	SYNE2	SGCG	CNTNAP1	SGCA	MEGF8	UBA1	PNPT1	TRPV4	SLC18A3	SIK3	ZC4H2	SLC26A2	FHL1	BAG3	SLC39A8	ATP6V1E1	MMP2	CPT2	CCN2	GNS	ERCC4	NALCN	COL6A1	ERCC8	COL6A3	UNC80	SRD5A3	DPM1	MYL11	COL12A1	FBN2	HSPG2	DSP	KY	JAG2	BIN1	GMPPB	GFM2	PSAT1	DDR2	CRPPA	REEP1	ACTA1	COL6A2	CHRNG	ERLIN1	COL7A1	NT5C2	PIEZO2	MYH3	NSUN2	NGLY1	TOR1AIP1	RPL10	PSMB8	ABCD1	SPTLC1	BRF1	PRG4	ERGIC1	LMNA	SLC6A9	SPEG	PPP2R5D	MYL2	FUS	GARS1	TPM2	TRIM2	HRAS	SLC1A4	APC2	TGFB3	DMD	PIK3R2	ANO5	ABHD12	RNU4ATAC	BCAS3	HACD1	PIGN	BICD2	GJB1	MYBPC1	LIFR	ESCO2	SNAP25	JUP	SLC10A7	MYL1	DHX16	KCNJ11	PTH1R	MYO9A	GFPT1	ABCC9	STAT3	ALG2	TNNT1	SPTBN4	PTDSS1	RTTN	GNB2	SLC39A14	ALAD	CCR6	TELO2	FKBP10	ATP5F1D	KLHL9	C18orf32	ABCC8	SDHB	FLNA	NSD1	SCARF2	PIGY	DAG1	DDHD2	PTRH2	SELENON	PYROXD1	SYNE1	CAPN3	MT-TE	GCK	DPAGT1	NOD2	GJB6	ERCC1	LGI4	SVIL	FIG4	GNPTAB	PLOD2	MYOT	CHRNB1	TPM3	PHF6	LMBRD2	MMP1	SDHAF1	ERLIN2	C19orf12	RMRP	HINT1	SLC25A46	SLC25A19	WDR26	ALS2	SCYL2	SDHA	PIGA	PSTPIP1	TBC1D2B	COL25A1	CAV1	DYRK1A	SYT2	COL2A1	ITGA7	FGFR3	SLC29A3	LBR	INS	KCNK9	SDHD	IRF5	ALG14	SIGMAR1	SLC25A4	LARGE1	LMX1B	F8	AMER1	FDFT1	VARS1	ANKLE2	NEB	MAP3K7	P4HTM
HP_BASILAR_IMPRESSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BASILAR_IMPRESSION	DKK1	COL1A2	ZBTB20	COL1A1	NOTCH2
HP_APLASIA_HYPOPLASIA_OF_THE_TIBIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_TIBIA	BMPR1B	ALG12	LMBR1	BHLHA9	DLK1	NEK1	FLNB	SHH	TCTN3	GDF5	CHD7	DONSON	LIFR	DYNC2H1	SHOX	HYLS1	GLI3	MEG3	PITX1	EIF4A3	SLC35A2	INTU	LAMA5	GPC6	RTL1	IHH	ZSWIM6	ATP7A	SMOC1
HP_GENERALIZED_OSTEOSCLEROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_OSTEOSCLEROSIS	CLCN7	SOST	PHEX	PTH1R	CTSK	TCIRG1	LRP5	PLEKHM1	LEMD3	DHCR24
HP_CORTICAL_THICKENING_OF_LONG_BONE_DIAPHYSES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORTICAL_THICKENING_OF_LONG_BONE_DIAPHYSES	TGFB1	FAM111A	MAN2B1	COL1A1	TBCE
HP_ABSENT_DISTAL_PHALANGES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_DISTAL_PHALANGES	TGFBR2	KCNN3	SLC25A24	LBR	CHUK	NOG
HP_FLEXION_CONTRACTURE_OF_TOE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLEXION_CONTRACTURE_OF_TOE	EIF5A	TGFB3	FLNA	JUP	CHRNG	LIFR	FHL1	PHF6	NT5C2	SCARF2	PIEZO2	MYH3	MMP2	ERLIN2	PSMB8	BCOR	PRG4	IPO8	PIGN	PPP2R5D	GLI3	AMER1	TBC1D2B	MYL11	HSPG2	FGFR3	DSP	FBN1	SLC29A3	NOD2	ERCC1
HP_MULTIPLE_PRENATAL_FRACTURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_PRENATAL_FRACTURES	MESD	CCDC134	KLHL41	ASCC1	CRTAP	NEB	ACTA1	COL1A1	TRIP4	LMOD3	COL1A2	KLHL40	P3H1	TAPT1	LBR	PPIB	TPM3
HP_PSEUDOARTHROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSEUDOARTHROSIS	CCDC134	EFNB1	ZMPSTE24	NF1	MYF5	WNT7A	MET	FGFR1
HP_METAPHYSEAL_CHONDRODYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METAPHYSEAL_CHONDRODYSPLASIA	GPX4	DNAJC21	AIFM1	SBDS	MMP13	ALG3	CWC27	PTH1R	EFL1	SRP54	FGFR3	HDAC6	RMRP	COL10A1
HP_PROGRESSIVE_FLEXION_CONTRACTURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_FLEXION_CONTRACTURES	GCH1	AIMP1	IMPDH2	NR4A2	MED12	ANTXR2	SYT1	ESCO2
HP_CONGENITAL_FINGER_FLEXION_CONTRACTURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_FINGER_FLEXION_CONTRACTURES	PIEZO2	COL12A1	ADAT3	CAPN3	TGFB3	FBN2	PRG4	KCNK9	MORC2
HP_ABNORMAL_CERVICAL_CURVATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CERVICAL_CURVATURE	FLNB	SOX9	CHST14	CHRNA1	SLC26A2	GZF1	CHRNG	ARSL	RIPPLY2	DSE	CHRND	HSPG2
HP_BILIARY_ATRESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILIARY_ATRESIA	RPGRIP1L	TMEM67	VPS33B	ZIC3	INPP5E	RFX6	GATA6	LONP1	TCTN3	ERCC4	CC2D2A
HP_ABNORMAL_METACARPAL_EPIPHYSIS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_METACARPAL_EPIPHYSIS_MORPHOLOGY	COL9A3	GPX4	NPR3	POR	LETM1	CPLX1	BGN	FGFRL1	IHH	RPS6KA3	COL9A1	CTBP1	NSD2	SALL1	COL9A2	PCNT
HP_APLASIA_HYPOPLASIA_INVOLVING_THE_METACARPAL_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_METACARPAL_BONES	BMPR1B	VPS35L	BRD4	LMBR1	GDF5	HOXD13	TRIP11	B3GALT6	LBR	PEX7	FLNA	GLI3	COL2A1	FANCD2	MEG3	IFT52	CANT1	EXTL3	FBXL3	PRKAR1A	EXT1	SLC26A2	FBN1	HDAC8	INPPL1	RSPRY1	LONP1	TBX3	SLC39A13	COL11A2	CHSY1	RECQL4	GPX4	FGF16	TRPS1	POC1A	BMP2	SMC1A	IHH	DYM	CD96	LAMA5	WNT7A	KCNJ2	TWIST2	TP63	ASXL2	PCYT1A	BGN	RPS6KA3	HOXA13	MYSM1	FGFR1	GNAS	BPNT2	PTH1R	RUNX2	PCNT	NHS	CHST3	PTCH1	NEPRO	PRKG2	SUFU	DONSON	PDE4D	EXT2	RMRP	RNU4ATAC	HHAT	ADAMTSL2	PTHLH	ROR2	SRY	LTBP3	GNAS-AS1	PHYH	SVBP	SOX9	RAD21	PTCH2	SETBP1	FZD2	STX16	SRCAP	RIPK4	FIG4	HDAC4	EIF4A3	SALL4	COG4	DNMT3A	CWC27	NOG	DLK1	COL9A3	SHH	POR	PDE3A	RAB33B	P3H1	REV3L	SMC3	FANCI	DCHS1	B3GLCT	PRMT7	FLNB	PLXND1	VPS13B	VAC14	COMP	RAB3GAP2	XRCC2	FERMT1	NIPBL	XYLT1	KNSTRN	MAP3K7	RTL1	NPR2	FAT4	SIL1	DDR2	SMARCA2	SHOX	IFT80	PIGS	MATN3	ANAPC1	PORCN	TRIO	PIK3CD	ACVR1
HP_ABNORMAL_METACARPAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_METACARPAL_MORPHOLOGY	BMPR1B	VPS35L	BRD4	HOXD13	EOGT	LMBR1	NEK1	MKKS	COL2A1	LRP4	GDF5	CPLANE1	TRIP11	B3GALT6	SHH	LBR	PEX7	COL9A2	FLNA	KIAA0753	GLI3	FANCD2	MEG3	RNU4ATAC	IFT52	CANT1	EXTL3	HFE	CTBP1	FBXL3	PRKAR1A	IFT140	EXT1	SLC26A2	DLL4	ASXL1	FBN1	TCTN3	TCF12	HDAC8	DHCR7	INPPL1	RSPRY1	LONP1	FGFRL1	TBX3	SMOC1	SLC39A13	TBX5	COL11A2	MMP2	CHSY1	RECQL4	DOCK6	GPX4	FGF16	TRPS1	POC1A	BMP2	SMC1A	IHH	DYM	CD96	LAMA5	FGFR3	MYL11	BHLHA9	WNT7A	KCNJ2	ADAMTS10	TWIST2	TP63	SPARC	NPR3	TOPORS	ASXL2	PCYT1A	BGN	NOTCH1	OFD1	RPS6KA3	HOXA13	MYSM1	ANKRD55	FGFR1	TWIST1	MAFB	PTPN2	SH3PXD2B	GNAS	BPNT2	GLB1	PTH1R	KIAA0586	FLNB	RUNX2	PCNT	NHS	CHST3	PTCH1	CSPP1	KIF7	IL2RB	NEPRO	PRKG2	IFIH1	MMP14	SUFU	INPP5K	STAT4	DONSON	PDE4D	TFE3	IL2RA	FMR1	EXT2	RMRP	COL9A1	FGF9	PQBP1	HHAT	ADAMTSL2	PTHLH	ROR2	SRY	LTBP3	PDE6D	GNAS-AS1	PHYH	COL9A3	SVBP	SOX9	RAD21	PTCH2	ESCO2	LETM1	CPLX1	BMP6	SETBP1	FZD2	STX16	PRG4	SRCAP	RIPK4	FIG4	ZIC1	SLC25A24	HDAC4	EIF4A3	SALL4	COL3A1	PTPN22	COG4	DNMT3A	NSD2	SALL1	CWC27	NOG	RNF13	DLK1	POR	SMARCA2	PDE3A	RAB33B	PTEN	RBPJ	ARHGAP31	SCARF2	P3H1	REV3L	SMC3	FANCI	FBLN1	DCHS1	LRP5	NFIX	KIF22	GJB6	B3GLCT	PRMT7	PLXND1	VPS13B	VAC14	COMP	RAB3GAP2	AKT1	XRCC2	NSD1	KL	FERMT1	INTU	SIL1	NIPBL	XYLT1	KNSTRN	MAP3K7	TMEM216	RTL1	NPR2	FAT4	DDR2	CLCN7	GUSB	SHOX	GALNS	IFT80	NONO	B3GAT3	PIGS	MATN3	FAM149B1	ANAPC1	PTDSS1	APC	PORCN	TRIO	PIK3CD	ACVR1	CD247
HP_ABNORMAL_FINGER_PHALANX_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FINGER_PHALANX_MORPHOLOGY	NLRP3	MGP	MKKS	COL2A1	MECOM	POU1F1	GDF5	IL11RA	BHLHA9	HS2ST1	HOXD13	CPLANE1	ZBTB20	RPGRIP1	LMNA	GPC4	LBR	MYH8	ZNF699	HYLS1	B9D2	EP300	PIGY	BMP4	RNU4ATAC	ADAMTS3	SETD2	SALL4	GNPTAB	PRKAR1A	FZD2	CDT1	MEGF8	NSD2	ZMPSTE24	TCTN3	GP1BB	ADA2	KCNN3	RPS28	MBTPS2	TGFBR2	B4GALT7	DOCK6	COL10A1	TMEM237	TPM2	GLI3	STAMBP	UNC80	FANCC	CSPP1	HNRNPR	NALCN	RPGRIP1L	ZNF407	KCNJ2	TUBA1A	CFAP418	PTH1R	RPS29	TP63	CREBBP	POLR3A	CDC6	NPR3	TOPORS	TNNI2	SATB2	ERCC5	DHODH	DVL1	NOTCH1	FGF9	RPL35A	RPS6KA3	TRPS1	CHN1	PIGN	NOG	FGFR3	TOR1AIP1	PRG4	TMEM218	BMPR1B	FGF10	MKS1	GNAS	LONP1	CC2D2A	KIF7	DYM	FLII	RUNX2	KDM5C	GLI2	LHX3	TRPV4	CHD7	TCTN2	RAI1	SUFU	RMRP	TMEM107	LMBR1	PEX6	MAFB	B3GALT6	FBN1	PTHLH	FTO	IGHMBP2	RAD21	PCGF2	LETM1	MYCN	EXOSC2	DLL3	PIGB	CUL4B	EZH2	DHX30	LAGE3	KDM6A	GABRD	PTDSS1	EDA2R	SLC25A24	RPL26	HDAC4	MEIS2	ABCC9	COL3A1	SALL1	EFTUD2	ACTB	CIBAR1	ZNF423	FLNA	WNT5A	RBPJ	ALX3	CDH11	TGDS	GPC3	FANCI	PAH	WDR35	CTSK	VAC14	POLR3GL	RPS15A	CCDC28B	CCDC22	DVL3	ACAN	LEMD3	IFT122	DOK7	SEC24C	NOTCH2	WDR73	MATN3	FLI1	EVC2	TTC8	IFT140	MCTP2	LZTFL1	NXN	IL10	GJA8	PIGO	ZIC3	FAM149B1	ASPN	KCNH1	SCAPER	SRCAP	COMP	TUBB3	IFT80	CEP290	SMARCB1	COL5A1	COL6A1	TRIO	ACVR1	IKBKG	PRKACB	VPS35L	BRD4	NEK1	KATNIP	ACP5	FGFR2	TRIP11	FGFR1	NAA10	NSD1	MEGF10	MEG3	IFT52	GPKOW	OCRL	CTBP1	AMMECR1	GATA1	INPP5E	MBD5	XYLT1	CD244	TBX1	DYNLT2B	ARMC9	ORC6	INPPL1	FGFRL1	TONSL	IPO8	SMOC1	ZNF141	COL11A2	G6PC3	SHMT2	TMEM231	PIK3CA	CPLX1	PTPN22	JAG1	OTUD6B	WNT7A	RETREG1	RAB23	SMAD3	TPRKB	ERCC2	HOXA13	SUZ12	FBN2	BBS1	NUP88	CRKL	SMC1A	PIGV	ALX4	SDCCAG8	TMEM216	WDR19	RECQL4	KAT6B	TMCO1	PORCN	TGFB3	BBS2	MUSK	IFT172	IFIH1	PIGG	ERCC6	B9D1	COL1A1	RAB3GAP2	KIF1A	GMNN	BICRA	MAPK1	RPL18	CEP120	PQBP1	TMEM67	ALG6	RPL31	HEATR3	SKI	ROR2	NIN	TBC1D24	NSUN2	TBX2	SH2B1	GATA4	NUP133	PLAA	KMT2D	TRIM32	ANTXR2	BMPR1A	HPGD	RAB3GAP1	HIRA	RPS19	EIF4A3	TFAP2B	AEBP1	PRKCZ	SETBP1	TOGARAM1	DNMT3A	SETD5	SLC26A2	DLK1	H3-3A	TWIST1	CHSY1	POR	WASHC5	AKT3	EMG1	ARVCF	PUF60	FGD1	ALX1	NFKBIL1	KCNJ8	GLI1	NFIX	NUP107	CRLF1	SMO	PGAP2	CEP104	COL6A3	NOD2	BANF1	NPHP1	RPS20	AHI1	MIA3	SH3PXD2B	GJA5	UBE2T	HESX1	TMEM138	LIFR	HINT1	UBE4B	FERMT1	CCND2	TTC26	PIGW	IFT43	RPS17	ERCC1	ACTG2	PPP2R3C	IDS	NPR2	DDR2	DDX59	PEX1	IDUA	JMJD1C	RIPPLY2	B3GAT3	RAPSN	ANAPC1	NONO	KRT14	SC5D	CTSC	MAP3K7	BCOR	EOGT	BBIP1	CHRNG	ARSL	HES7	DEAF1	SHH	CASZ1	KIAA0753	IDH1	CNOT1	ORC1	DYNC2I1	CANT1	FBXO28	CEP19	SMARCE1	EXTL3	RPS24	PIGL	IGF2	EVC	DHCR7	HSPG2	RPS27	CBY1	BBS5	PHF8	LIG4	MMP2	EXT1	MED12	GJA1	RREB1	KAT6A	TTC21B	KDM5B	PIEZO2	CD96	LAMA5	TCTN1	ORC4	ADAMTS10	CHUK	MTX2	MYH3	DYNC2I2	SLC35A3	ZDHHC9	USP9X	DYNC2H1	TXNDC15	FANCB	PSMD12	TBX3	PRDM16	KNSTRN	PIGF	COL6A2	ASXL3	PCNT	PTCH1	APC2	BBS9	ARID1A	ADAMTS2	PDPN	CEP41	PRKG2	ATR	CHST11	GATAD2B	PDE4D	ATP6V1B2	FIG4	PTEN	MESP2	PDE6D	PAX3	SOX9	TBX5	ASAH1	CDKL5	TWIST2	BMP2	SPTBN1	TFAP2A	DYNC2LI1	MORC2	RTTN	GNB2	GPX4	CDC45	MYBPC1	ERCC8	ATL3	SOX11	PNPLA6	OSGEP	CWC27	OFD1	PACS1	CSGALNACT1	PDE3A	ARHGAP31	SCARF2	CHST3	MMP23B	COMT	BPTF	PHF6	FTSJ1	FLNB	CLCF1	POLA1	XRCC2	IFT27	IFT57	CCN6	TBC1D2B	COG4	SLC29A3	LFNG	RLIM	TLK2	CLCN7	SMARCA2	GGCX	MSX2	ABCA12	DPYS	BRF1	BBS4	EDA	POGZ	KIAA0586	RPS7	DACT1	TGFBR1	ADAT3	BLM	IARS1	RPL10	MAP3K20	FANCA	ACTL6B	COG5	MYOD1	RPS26	FANCD2	CCBE1	BBS10	BBS12	FAT4	SPEN	DLL4	SMG9	PIBF1	HDAC8	WFS1	ARID1B	COL11A1	CIITA	FANCE	MIR17HG	SUMF1	SLC39A13	EFNB1	H4C9	NHS	SMARCA4	POC1A	RPL15	IHH	MYL11	RPL11	COL12A1	ACTG1	CTDP1	TMEM70	MRPS28	TNNT3	WDPCP	RBBP8	RPL27	BGN	MACROH2A1	NGLY1	PSMB8	IQSEC2	GDAP1	LUZP1	PIK3CD	EED	ARPC4	RPS10	WDR4	ARL13B	NEPRO	ACOX1	TRAPPC2	KCNAB2	PROP1	SLC22A4	CFTR	PCYT1A	DSP	PRKD1	SIAH1	PIK3R2	NELFA	RBM10	SMARCAD1	HHAT	ADAMTSL2	RPL5	PTCH2	RERE	COL5A2	BCR	RIPK4	LHX4	SNIP1	PCDHGC4	KIAA0825	SLC35A2	IFT74	UPF3B	C2CD3	RBM8A	ARL6	TSR2	MAN2C1	RAB33B	SMC3	FN1	DNM1L	EIF2AK3	PDGFRB	SF3B2	KIF15	ESCO2	CAPN3	KIF22	PYCR2	ARL3	FRAS1	WNK1	TP53RK	PITX1	INTU	NIPBL	BBS7	PLOD3	PGAP3	CRIPT	RTL1	SLC18A3	SCNM1	SOST	LAMB3	KCNK9	WLS	MTOR	L1CAM	RPL35	SCN9A	LRP4	NSDHL	TBR1	OTUD5	MED25	PIGS	EBP	ADNP	FKTN	UFD1	PRKACA	KMT2A
HP_ABNORMAL_EPIPHYSIS_MORPHOLOGY_OF_THE_PHALANGES_OF_THE_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EPIPHYSIS_MORPHOLOGY_OF_THE_PHALANGES_OF_THE_HAND	COMP	TRPS1	MRPS28	MIA3	NEK1	NPR3	SRCAP	IFT140	GDF5	BGN	IFT172	FLNA	TONSL	ARSL	KCNH1	TRIP11	TRAPPC2	ATR	ERCC6	EIF2AK3	EXT1	FGFR3	BMPR1B	KIF15	MGP	GPX4	COL2A1	RAB23	IFT52	EVC2	ERCC8	RMRP	IHH	TRPV4	DYM	NPR2	COG4	PRKAR1A	EVC	RUNX2
HP_ABNORMAL_HAND_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HAND_MORPHOLOGY	MGP	ARSB	ODC1	COL2A1	VPS37D	MECOM	LRP4	GDF5	TBX1	PHF21A	CTCF	HSPB1	HOXD13	CPLANE1	RPGRIP1	LBR	ZNF699	SMARCB1	RNU4ATAC	PTPN11	PRKAR1A	FZD2	CDT1	DPYSL5	MEGF8	SPOP	TRPV4	TCF12	SETD2	SHH	GP1BB	ADA2	KCNN3	CHSY1	MECP2	ANKRD11	RPS6KA3	CCDC8	GLI3	STAMBP	HNRNPR	ARID1B	NIN	RPGRIP1L	RPS29	TP63	CDC6	NPR3	TOPORS	SATB2	BRCA2	H3-3B	JAG1	DVL1	HSD17B4	NOTCH1	FGF9	RPL35A	TRPS1	CHN1	PIGN	PSMD12	KIDINS220	RPL26	TWIST1	MAFB	GDF1	TCF20	GNAS	NKX2-5	BPNT2	PTH1R	C12orf57	FKBP6	KIF7	FLII	COL7A1	KMT2A	KDM5C	MKS1	BAP1	DYM	ATN1	NTRK1	CHD7	RAI1	WAC	NEK9	IRF6	GNB1	GJA5	SMC1A	RECQL4	IL2RA	PIK3R1	ASNS	EBP	CAVIN1	TRRAP	SCYL2	WNT10B	FBN1	GNAS-AS1	GATA6	PCGF2	FLNB	MYCN	OPA3	CAMTA1	NGLY1	CUL4B	EZH2	KDM6A	GABRD	KLF13	PTDSS1	EDA2R	LAS1L	SLC25A24	GALNT2	IGF1R	HDAC4	MEIS2	TCTN3	PAFAH1B1	KMT2D	MMP14	SAMD9	TCF4	UBE3B	HIC1	EFTUD2	FGFR3	ACTB	ZNF423	WNT5A	ALX3	INSR	B3GALT6	TGDS	GPC3	FLT4	ITGB4	CDKL5	FBLN1	CCDC32	PAH	HESX1	EMG1	CTU2	PLXND1	CANT1	SDHC	RFWD3	CCDC22	BMPR1B	LEMD3	LZTR1	NOTCH2	MOGS	KCNJ11	TMEM237	FLI1	EIF4H	SHANK3	CKAP2L	IGF1	TTC8	IFT140	TCTN2	MCTP2	SOX6	TMEM53	LZTFL1	NEFL	KDR	NXN	PIGO	ZIC3	SOX11	SNRPN	IGF2	KCNH1	SRCAP	SPART	COMP	MASP1	CEP290	MAGEL2	TRIP11	MCM3AP	SYNE1	PTF1A	TRAPPC9	TRIO	CNOT3	ESCO2	IKBKG	PRKACB	VPS35L	PPM1D	NEK1	KATNIP	ACP5	FGFR2	NF1	DOK7	MKRN3	FGFR1	COL9A2	HMGA2	ZMPSTE24	MAP3K7	MEG3	EGR2	CTBP1	AMMECR1	RRAS2	METTL27	INPP5E	DVL3	SATB1	ARMC9	INPPL1	TONSL	SMOC1	ZNF141	H4C3	H19	SLC25A22	MYOD1	BUB1B	SHMT2	TMEM231	GNAO1	CPLX1	PEX1	SPTLC2	BHLHA9	BICD2	PAX3	LMBR1	FLNA	PAICS	SLC6A17	TRAIP	NPR2	NCF1	MYH3	MYSM1	TBCE	SUZ12	SLC6A9	RERE	PIGV	ARX	SDCCAG8	TMEM216	SMAD4	ARCN1	BRIP1	WDR19	KDM1A	PIGH	KAT6B	TMCO1	HRAS	KRAS	BBS2	MUSK	HDAC8	IFT172	SDHB	OGT	IFIH1	FANCI	SUFU	ERCC6	MLXIPL	SHOX	B9D1	BPTF	HERC2	PHGDH	MAPK1	CEP55	CEP120	PQBP1	ALG6	CENPE	KIF1A	ASAH1	ROR2	FIBP	SH2B1	GATA4	SCN1B	ATRX	PTRH2	TRIM32	LAMB3	MKKS	KPTN	HIRA	RPS19	HOXA11	EIF4A3	SALL4	TOGARAM1	AFF2	PPP2R1A	NUP85	BRCA1	RAD51C	CEP152	ARVCF	ALX1	KCNJ8	FANCF	HOXA13	GLI1	NFIX	NUP107	GJB6	SMO	SOST	CEP104	NEXMIF	TNNI2	BANF1	COL10A1	PTHLH	MAP2K1	CDKN1C	SH3PXD2B	SEMA5A	GRIK2	LIFR	MMP1	FANCM	NSD1	OCA2	NOG	UBE4B	FERMT1	PIGW	IFT43	RPS17	EPB41L1	DPF2	DPAGT1	USP9X	RNF2	DDX59	GALNS	B3GAT3	FANCE	PMP22	EFNB1	FAM149B1	BBS1	SC5D	EXTL3	WDR4	CTSK	FANCB	NSD2	HTT	ARSL	DEAF1	GAN	AIP	CASZ1	KIAA0753	ADGRG6	IDH1	WIPI2	ORC1	DYNC2I1	RPS24	SPECC1L	RPS27	NPHP1	LONP1	CBY1	ZC4H2	BBS5	TBL1XR1	MMP2	ALOX12B	EXT1	GJA1	RREB1	TTC21B	BMP2	RIT1	PIEZO2	DPM1	ADAMTS10	DYNC2I2	DDR2	DYNC2H1	ASXL2	MTX2	NARS2	CHRNG	DST	B9D2	AP1G1	NALCN	AGO2	HYLS1	VPS33B	PRDM16	KNSTRN	MAN1B1	GJB2	PCNT	PTCH1	BBS9	POLR3A	CEP41	WRN	PRKG2	FANCA	ATR	SMARCD1	EVC	PDE4D	SLC2A10	PRKDC	XRCC4	CTDP1	CC2D2A	KLHL15	LMNA	ENPP1	DLX6	PHYH	SOX9	SLC9A7	BMP6	KDM4B	GDAP1	COL11A2	PWRN1	MPV17	EXT2	GPX4	CDC45	ACAN	MYBPC1	EVC2	ERCC8	PWAR1	ATL3	GMNN	PNPLA6	ATP7A	OFD1	CNOT2	COL9A3	CSGALNACT1	PDE3A	RAC1	MBTPS1	ARHGAP31	P3H1	PIGY	INF2	MMP23B	TCTN1	POR	AFF4	ELN	SF3B4	FTSJ1	AKT1	POLA1	EP300	TMEM67	IFT57	NEB	PHF8	CASK	RSPO2	CHRNA7	NAA10	ERCC4	COL17A1	BSCL2	SIL1	RBBP8	CLCN7	MBD5	SMARCA2	ABCA12	BRF1	EDA	AUTS2	KCNA1	PUF60	CNTNAP1	ATP6V1B2	GPR101	CILK1	RPS7	CCNQ	RSPRY1	BLM	CLCN3	MYMX	COG5	FOS	HPGD	BBS10	CBL	TMEM107	SPEN	AHI1	SLC26A2	SMG9	TREX1	SKI	NKX2-6	TBX3	SEM1	TBX5	WDR35	MBTPS2	FGF16	EXOC6B	CEP57	UBE3A	RPL15	IHH	RPL11	FBN2	DSP	CDC42	MRPS28	TNNT3	VPS13B	BGN	GABBR2	GTPBP2	BTRC	LETM1	DHCR7	FBXO11	DLK1	LUZP1	PIK3CD	ATG7	GLB1	EED	ABL1	COG8	RPS10	NHS	GATA1	PACS2	ARL13B	COL3A1	TUBB3	RNF216	GTF2I	CNTN1	AHSG	PROP1	PCYT1A	CCBE1	PIK3C2A	ZMYM2	NKX3-2	PI4KA	HHAT	CENPJ	CDH11	PTCH2	CTSD	ALMS1	ZNF292	CDC42BPB	BCR	SNIP1	KAT8	ZIC1	LIG4	RAB23	TELO2	PLAG1	KIAA0825	PTPN22	NUP37	IFT74	ITGB6	IFT52	MAN2C1	CHST3	SPRED2	FN1	PDGFRB	USP7	IRX5	RAB3GAP1	PKDCC	ARID2	DYNC2LI1	SON	PALB2	OBSL1	LAMC2	KL	KMT2B	B3GLCT	GTF2IRD2	LIMK1	MSL3	PIGL	CRIPT	RTL1	SCNM1	FAT4	GRIN1	CRLF1	TMEM270	YWHAE	CHRNA1	L1CAM	SCN9A	SIN3A	TBR1	WDPCP	AGPAT2	RBM8A	PRKACA	SEMA3E	POU1F1	ZBTB20	GPC4	BMP4	LMNB2	HFE	GNPTAB	SPTLC1	ATP6V1E1	RPS28	ZEB2	DOCK6	TPM2	UNC80	FANCC	CSPP1	KCNJ2	CFAP418	TWIST2	CREBBP	SPARC	TRIP13	GLE1	MEN1	TMEM218	PTPN2	FGF10	STAG2	PIGQ	SCUBE3	RUNX2	ARID1A	GLI2	PRX	LHX3	MAD2L2	FMR1	RMRP	MAP1B	COL9A1	DLX5	PEX6	NDN	SIK1	ALOXE3	DHODH	SRY	SPRED1	RAD21	SNORD115-1	PIGB	NGF	PRG4	ADNP	RIPK4	FBXW4	GRM7	ABCC9	SALL1	RNF13	MADD	CIBAR1	GRB10	RBPJ	RB1	LRP5	KIF22	PRMT7	MAPK8IP3	COG7	CCT5	VAC14	BAZ1B	RPS15A	CCDC28B	IFT122	ZMIZ1	SEC24C	SLC52A2	MPZ	GJA8	ZNF462	SCAPER	PRR12	IFT80	ZFPM2	HNRNPH1	MATN3	CAV1	SIM1	ACVR1	BUB1	BRD4	MGAT2	KCNK4	QRICH1	PEX7	KCNJ5	CDH3	RAB18	NANS	BCOR	RBM28	STAG1	XYLT1	DPH1	DYNLT2B	ORC6	CDK5	FGFRL1	WDR81	PIK3CA	MRAS	FANCL	WNT7A	RETREG1	BCL7B	PPP1R21	IDS	CRKL	EN1	TBX22	SLC35D1	PORCN	WDR73	PIGG	DONSON	ALG13	ABCC8	SMARCC2	RAB3GAP2	BICRA	RPL18	XRCC2	RPL31	HEATR3	TBC1D24	SLC10A7	NSUN2	PLAA	STX16	EPS15L1	ANTXR2	TFAP2B	PRKCZ	SETBP1	DNMT3A	CAMK2G	SOX4	WASHC5	AKT3	PTEN	RPL10	FGD1	COG1	DCHS1	BUD23	PGAP2	RAF1	MEF2C	RPS20	MIA3	CWC27	UBE2T	KRT5	TMEM138	HINT1	CCND2	PLK4	DHPS	PPP2R3C	ALG9	COL11A1	NEUROD2	LAMA3	JMJD1C	PUM1	FANCG	ANAPC1	LMX1B	NONO	YY1AP1	SNRPB	CTSC	UBA2	EOGT	BBIP1	CUL7	FBXO28	CEP19	SMARCE1	FBXL3	MORC2	ASXL1	HSPG2	ATP2B1	SMARCA4	MED12	RRAS	SCN2A	NDRG1	PHIP	CD96	LAMA5	ORC4	CHUK	TGM1	TXNDC15	PACS1	PIGF	DMXL2	KIAA0586	ASXL3	APC2	RPL5	JPH1	PDPN	INPP5K	CHST11	CLIP2	FIG4	GATA5	PDE6D	SVBP	BUB3	TMEM147	TFAP2A	DLX3	MAPT	NAA20	NRAS	GNB2	MIR140	ALG12	CDK10	SCARF2	PITX1	REV3L	LTBP1	TBX15	KIT	COMT	ALDH18A1	UFSP2	PHF6	KIFBP	LSS	IFT27	ATRIP	NTNG1	HUWE1	COG4	GGCX	PIGP	BRAF	GUSB	BBS4	TBX4	SOS1	AMER1	DACT1	TGFBR1	CD247	ABCC6	MAP3K20	ACTL6B	HDAC6	CTNND2	RPS26	FANCD2	BBS12	SLCO2A1	DLL4	PIBF1	SIK3	MIR17HG	LTBP2	SLC39A13	GTF2IRD1	POC1A	TMEM94	FAM50A	MYL11	ACTG1	SLC34A2	CHRND	CITED2	KRT1	MAPRE2	RPL27	TRIM8	MACROH2A1	MYMK	ANKRD55	AIFM1	IQSEC2	SLX4	PPARG	UBR1	KIF5C	RFC2	BRAT1	TBL2	IL2RB	NEPRO	ATL1	BLTP1	ACOX1	TRAPPC2	STAT4	KCNAB2	TFE3	SIAH1	ALDH1A2	PIK3R2	NELFA	KDM6B	RBM10	MAF	ADAMTSL2	STX1A	LTBP3	DNAJC30	NPAP1	JUP	ASPH	NIPBL	DYNC1H1	LHX4	PCDHGC4	SNORD116-1	C2CD3	SOS2	ARL6	TSR2	RAB33B	TOR1A	SMC3	EIF2AK3	PRIM1	SF3B2	KIF15	SBF2	RASA2	ARL3	FRAS1	WNK1	INTU	BBS7	PLOD3	PGAP3	MTOR	RPL35	NSDHL	HERC1	OTUD5	COX4I1	MED25	PIGS	APC	CUL3	RAD51	UFD1	PNKP
HP_ABNORMAL_EPIPHYSIS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EPIPHYSIS_MORPHOLOGY	EXTL3	TRPV4	ARSB	IARS2	COL2A1	CYP27B1	IFT122	POU1F1	MATN3	HS2ST1	ARSL	TREX1	LBR	ACAN	ORC1	CANT1	DPYD	PRKAR1A	IFT140	FZD2	CDT1	PEX26	TBC1D2B	GDF5	RSPRY1	LONP1	PEX3	NPHP3	SLC26A2	DYNC2H1	TGDS	FBN1	PEX1	EXT1	GPX4	PEX16	TTC21B	PCNT	RINT1	DYM	TINF2	ORC4	HSPG2	PEX6	CYP19A1	PTH1R	BMPR1B	CDC6	DYNC2I2	TPO	NPR3	DDRGK1	DYNC2I1	FGF9	RPS6KA3	TRPS1	PEX5	IYD	LOXL3	HSPA9	WNK1	COL1A1	KNSTRN	LMBR1	KIAA0586	NMNAT1	KIF7	DUOXA2	TBX4	RUNX2	SKIC3	CSPP1	LHX3	SMARCAL1	SLC39A13	INPP5K	ATR	COL11A2	PDE4D	SLC2A10	LTBP3	TRAF3IP1	CEP164	PIK3R1	EVC2	RMRP	COL9A1	TMEM165	SRP54	CYP2R1	PHYH	SOX9	RNU4ATAC	FLNB	LETM1	CPLX1	EBP	TNFSF11	DYNC2LI1	FGFR3	CLCN5	MIR140	MMP13	ADAMTS2	ERCC8	TG	MAFB	NSD2	SALL1	OFD1	COL9A3	WDR19	SBDS	FLNA	UFSP2	B3GALT6	CHST3	PYCR1	CLCN7	RETREG1	KIF22	UNC45A	COL9A2	COMP	ZMIZ1	PEX10	ATRIP	SNX10	IHH	SIL1	CCN6	XYLT1	CKAP2L	PEX11B	COG4	PEX14	EFL1	THRB	RBBP8	OCRL	GGCX	SRCAP	CEP290	KIF1A	BRF1	DUOX2	SNRPB	PEX12	IFT80	PIK3CD	VDR	ATP7A	CEP152	VPS35L	NEK1	TREM2	TYROBP	PRDM5	TSHB	TRIP11	PEX7	EXOC6B	COL11A1	NANS	MAP3K7	PEX13	MEG3	IFT52	SCN9A	SLCO2A1	CTBP1	DVL3	TSHR	ORC6	SIK3	HPGD	WNT5A	FGFRL1	TONSL	COL1A2	GNS	POC1A	MMP9	MRPS28	IFT172	TRAIP	CREBBP	NPR2	BGN	PEX19	AIFM1	DHCR7	MGP	SMAD4	GEMIN4	PORCN	FGFR2	INPPL1	ZNF469	PISD	IFIH1	KCNH1	TRAPPC2	ERCC6	SHOX	PROP1	PCYT1A	PIK3C2A	NEU1	NKX3-2	GMNN	PEX2	CEP120	CENPE	EVC	CENPJ	ADAMTSL2	SLC10A7	DVL1	CDC42BPB	GNPAT	PTPN11	LHX4	GNPTG	RAB23	GLB1	NEK9	NPHP4	NUP85	DLK1	AGPS	POR	SMARCA2	RAB33B	NSMCE2	FN1	EIF2AK3	RPL13	DNAJC21	HOXA13	KIF15	SLC5A5	COL10A1	PDE3A	RAB3GAP2	MIA3	HESX1	ESR1	NOG	PLK4	PLOD3	PHEX	CDC45	PIGL	SDCCAG8	RTL1	LEMD3	CDKN1C	DDR2	RET	INVS	IDUA	TCIRG1	GALNS	NSDHL	SLC34A3	GORAB	NPHP1	IQCB1	TMEM67	GUSB	EP300
HP_ABNORMAL_RENAL_CORTICOMEDULLARY_DIFFERENTIATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_CORTICOMEDULLARY_DIFFERENTIATION	CEP290	COQ7	TMEM67	DHX16	PKHD1	USP18	PBX1	IFNG	VPS33B	DZIP1L	DCDC2	H4C3	NIPBL	IFT140	BSND	INVS	CLCN7	TULP3	PDCD6IP	TSC2	PAX2
HP_ABNORMAL_RESPIRATORY_MOTILE_CILIUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RESPIRATORY_MOTILE_CILIUM_MORPHOLOGY	TTC12	DNAAF2	DNAAF3	DNAAF1	DNAL1	RSPH3	CFAP300	CCDC39	SPAG1	CCDC103	DNAI2	DNAI1	ARMC2	RSPH9	NME8	DNAAF5	RSPH4A	ODAD3	CCDC40	NME5	ZMYND10	DNAH9	DNAAF11	ODAD1	DNAJB13	CFAP298
HP_RESPIRATORY_ARREST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESPIRATORY_ARREST	LAMP2	SLC25A1	CHAT	TXNDC15	VAMP1	AFF3	HTRA2	TSPYL1	MYL2	CPT2	AGRN	EXOC6B	SLC6A5	SLC18A3	SLC2A10	COL2A1	GPX4	SYT2	KIT	B3GALT6	SLC5A7	SNAP25	DCTN1	COL13A1	ACADVL	MYO9A	DDC	SLC25A20
HP_VENTILATOR_DEPENDENCE_WITH_INABILITY_TO_WEAN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENTILATOR_DEPENDENCE_WITH_INABILITY_TO_WEAN	IGHMBP2	ALAD	MT-TE	TRMU	TK2
HP_APNEIC_EPISODES_IN_INFANCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APNEIC_EPISODES_IN_INFANCY	SCN4A	NDUFS8	PLA2G6	CC2D2A	NACC1	HACD1	ACADSB	FBP1	FGF13	SCN5A
HP_BREATHING_DYSREGULATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BREATHING_DYSREGULATION	CEP290	AHI1	TBX20	ELP1	PHOX2B	TLL1	GATA6	INPP5E	NDUFS6	NKX2-5	ASCL1	TMEM216	RET	ACTC1	MYH6	CITED2	KYNU	TMEM67	GATA4	RPGRIP1L
HP_TEMPERATURE_INSTABILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TEMPERATURE_INSTABILITY	DISP1	NPAP1	SLC18A2	SHH	FOXH1	FGFR1	ZIC2	FGF8	TDGF1	STIL	SNORD115-1	PLCH1	DLL1	GAS1	VPS11	PTCH1	MKRN3	TGIF1	PWRN1	MAGEL2	GALC	NODAL	GLI2	CDON	STAG2	SNORD116-1	PWAR1	SMC1A	ALG11	DDC	SIX3	MYO1H	SPR	LMNB1	PSAP	HERC2	SHQ1	SLC25A19	PLA2G6	FCGR3B
HP_TYPE_II_DIABETES_MELLITUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPE_II_DIABETES_MELLITUS	PDX1	MT-ND4	CERKL	SPINK1	FSCN2	RP1	BLM	VPS37D	RGR	IDH3A	FAM161A	PRPF4	MC4R	GUCA1B	MKRN3	IL6	HNF1B	AIP	PRPF6	HNF1A	PRPF31	MT-TK	SCAPER	PPARG	TUB	METTL27	AR	SLC7A14	PEX10	RDH12	PCARE	MAGEL2	IMPG2	MT-TH	EYS	CELA2A	MT-TL1	PPP1R3A	CNBP	GTF2IRD1	GCK	FBN1	BBS2	HMGA1	REEP6	PRPF3	RBP3	NEUROD1	IRS1	PDE6G	GCGR	SLC30A8	CYP19A1	ENPP1	CPE	POLR3A	KIAA1549	CTRC	BCL7B	IGF2BP2	MLXIPL	IFT172	ARL3	ABCA4	NCF1	IMPG1	NEK2	RP2	MAPK8IP1	MEN1	CLRN1	RP9	CTNNB1	BRAF	OFD1	FKBP6	AGBL5	LIPC	CRB1	TCF7L2	RFC2	PCNT	DNMT1	TBL2	PRPH2	MT-ND6	IRS2	RPE65	PROM1	WRN	GTF2I	CDHR1	TTC8	MT-TS2	CEP19	PLCD1	HERC2	CLIP2	DYRK1B	INSR	MTNR1B	XRCC4	DMXL2	DHDDS	ARL6	LRP6	MT-TQ	LMNA	NR2E3	STX1A	BMP6	ATM	LRAT	DNAJC30	NPAP1	PTPN1	IFT88	MAFA	MT-ND5	ALMS1	SPATA7	SNORD115-1	MT-TE	TULP1	SNRNP200	CNGA1	CNGB1	PWRN1	BSCL2	ARHGEF18	LIG4	PDE8B	SNORD116-1	MT-CO1	PWAR1	SEMA4A	PNPLA6	PDE6A	PRKAR1A	PRCD	PDE11A	CLCNKB	CFAP418	NRL	RETN	USH2A	BBS1	ROM1	WFS1	BUD23	CA4	ARL2BP	ZNF513	RP1L1	RLBP1	ZNF408	BAZ1B	ELN	AMACR	BEST1	SAG	LMF1	GLRX5	PRKACA	IMPDH1	KLHL7	PRPF8	MT-CO2	KCNJ11	EIF4H	HGSNAT	GTF2IRD2	LIMK1	RHO	AKT2	CAT	MT-TF	THRB	IDH3B	ABCC8	AHI1	DHX38	CARS1	TMEM270	KIZ	PAX4	MERTK	SIN3A	GPD2	CRX	MOG	TOPORS	KLF11	PDE6B	STUB1	POLA1	IFT140	MT-CO3	RPGR	MAK	MT-TW	SIM1	AHR	HNF4A	SLC2A2	POMGNT1	MT-ND1	SLC12A3
HP_LIMITATION_OF_NECK_MOTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITATION_OF_NECK_MOTION	MEOX1	SELENON	TICAM1	SCN2A	PRRT2	SCN9A	TBK1	MYH7	NOG	TTN	NDE1	MYH3	ERLIN2	SCN1A	NEK9	NDUFS3	ATP1A2	LMNA	COL2A1	PCDH19	DKK1	TRAF3	GABRG2	TLR3	GDF6	CACNA1A	UNC93B1	GABRA1	MYL11	ACVR1	COL6A2	FHL1	SCN1B	IRF3
HP_CONGENITAL_MUSCULAR_TORTICOLLIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_MUSCULAR_TORTICOLLIS	SYNGAP1	COL12A1	MEOX1	COL6A3	COL6A1	GDF6	COL6A2	PPP2R5D	GDF3
HP_REDUNDANT_NECK_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUNDANT_NECK_SKIN	RTL1	CSPP1	DLK1	SH3PXD2B	ELN	B4GALT1	ATP6V1E1	OTUD5	FIG4	NAA10	WDR81	MEG3	ALDH18A1	PEX1	WDR37	CDK13	CEP55	NDUFB10	ATP6V0A2	FGFR2	KIAA0586	MRPS22	VAC14	MRPS16	HRAS	FBLN5	ATP6V1A	GATA1	TBX15
HP_NODULAR_GOITER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NODULAR_GOITER	DICER1	MMP14	SASH1	MINPP1	ALMS1	HABP2	RET	KEAP1	FOXE1	MMP2
HP_URETERAL_OBSTRUCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETERAL_OBSTRUCTION	FLNA	DHCR7	SLC35A2	DSTYK	NSD1	CDH11	SETBP1	EYA1	HLA-DPA1	PRTN3	LAMA3	HOXA13	LAMC2	SIX5	KDM6A	KMT2D	MYOD1	LAMB3	YY1	GNB1	SF3B2	BRF1	GRHPR	ZMYM2	HNF1B	MAP3K7	HLA-DPB1	PIGT	PTPN22	SETD2	TBX18	SLC26A1	SIX1	PIGL	NODAL	CTLA4	ATP7A	APC2
HP_ABNORMALLY_SHAPED_CARPAL_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALLY_SHAPED_CARPAL_BONES	COMP	GNPTAB	IDH1	KIF22	EIF2AK3	GDF5	DYM
HP_Y_SHAPED_METACARPALS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_Y_SHAPED_METACARPALS	CPLANE1	FAM149B1	KIF7	NEK1	TOPORS	HOXD13	OFD1	GLI3	TMEM216	INTU	TCTN3	PDE6D	KIAA0753
HP_METACARPOPHALANGEAL_JOINT_CONTRACTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METACARPOPHALANGEAL_JOINT_CONTRACTURE	MYL11	MAP3K7	ASXL1	FLNA	RNF13
HP_PALMAR_HYPERHIDROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALMAR_HYPERHIDROSIS	KRT6B	PLAA	LAMB3	KRT17	CDSN	RSPO1	TRPV3	PERP	KRT16	WNT10A	MBTPS2	KRT6A	SERPINB7	CTSB	CFTR
HP_3_4_FINGER_SYNDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_3_4_FINGER_SYNDACTYLY	MAB21L2	CDH3	JUP	HOXD13	GLI3	BHLHA9	TMEM53	CPLANE1	PORCN	SALL1	DSP
HP_FINGER_SYNDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FINGER_SYNDACTYLY	HOXD13	BCOR	EOGT	BBIP1	NEK1	CHRNG	MKKS	FANCB	LMBR1	BHLHA9	HES7	WNT10B	UBE2T	FGFR2	SHH	GPC4	FGFR1	NAA10	NSD1	CTNND2	KIFBP	GLI3	CDH3	MEGF8	BMP4	CCBE1	BBS10	BBS12	ADAMTS3	FRAS1	CEP19	FAT4	PAX3	DVL3	DLL4	FZD2	CTNND1	DHCR7	TCTN3	NPHP1	LZTFL1	WNT5A	BBS5	EFNB1	SEM1	TBX5	H4C9	DOCK6	GJA1	KAT6A	PIK3CA	WDR35	UBE3A	FGFR3	PIEZO2	BMS1	FREM2	PALB2	UBA2	DSP	CHUK	TWIST2	PLEC	MAB21L2	RAB23	BRCA2	WDPCP	DHODH	VPS13B	NOTCH1	SPECC1L	CFAP418	TP63	BTRC	LRP4	NOG	SUZ12	BBS1	RPL10	TWIST1	SMO	NECTIN1	FGF10	CDH1	SDCCAG8	RAD51C	FLNB	MKS1	WDR19	FANCD2	PORCN	BAP1	FANCF	MAD2L2	FANCA	FANCI	IRF6	MED12	ALDH1A2	BRIP1	PHGDH	DLX5	MESP2	RFWD3	RBM10	XRCC2	ROR2	HOXA11	DLX6	BBS2	GNA11	JUP	DVL1	DLL3	KIF7	EZH2	EPS15L1	TRIM32	RTTN	CDC45	KCTD1	WNT7A	RIPK4	FBXW4	ABCC9	SALL4	CACNA1C	IFT74	PNPLA6	SALL1	OFD1	NEK9	RBM8A	BRCA1	CHSY1	WASHC5	IFT52	ITGB4	GDF5	PTEN	RBPJ	ARHGAP31	PITX1	ORC1	FGD1	REV3L	CDH11	KCNJ8	RB1	GPC3	HDAC4	DCHS1	ARL6	SETBP1	MECOM	EED	SOST	ESCO2	PLXND1	ARL6IP6	SMOC1	SF3B4	CCDC22	AKT1	IFT122	SEMA5A	PSAT1	GRIP1	IFT27	CPLANE1	IFT172	FANCM	FLI1	SLX4	FERMT1	CKAP2L	BBS7	IFT43	ERCC4	FANCL	TTC8	BBS9	TMEM53	PPP2R3C	LEMD3	NXN	NECTIN4	LFNG	SCAPER	BBS4	RIPPLY2	NSDHL	CEP290	FANCE	MYH3	FANCG	MED25	PTDSS1	APC	RAD51	FANCC	IKBKG
HP_ABSENT_PHALANGEAL_CREASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_PHALANGEAL_CREASE	HOXD13	TLK2	LMX1B	TNNI2	MET	NOG	RBBP8	IHH	TPM2	MASP1	PIEZO2	MYH3	ROR2	COL1A2	TBX15
HP_SHORTENING_OF_ALL_MIDDLE_PHALANGES_OF_THE_FINGERS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORTENING_OF_ALL_MIDDLE_PHALANGES_OF_THE_FINGERS	HOXA13	FGFR2	FGFR1	COL2A1	EIF2AK3	GDF5	PHF6
HP_SHORTENING_OF_ALL_DISTAL_PHALANGES_OF_THE_FINGERS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORTENING_OF_ALL_DISTAL_PHALANGES_OF_THE_FINGERS	VPS35L	PIGW	PIGY	POR	BRF1	PGAP2	PGAP3	ALG6	PIGV	PIGO	PIGL	PHF6
HP_ACRAL_ULCERATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACRAL_ULCERATION	SCN9A	NGF	CCT5	SPTLC1	KIF1A	MPV17	WNK1	RETREG1	NTRK1
HP_ABNORMAL_FINGER_FLEXION_CREASES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FINGER_FLEXION_CREASES	HOXD13	TLK2	LMX1B	WNT7A	TNNI2	MET	NOG	RBBP8	IHH	TPM2	MASP1	PIEZO2	ATR	MYH3	GDF5	ROR2	COL1A2	TBX15
HP_CENTRAL_Y_SHAPED_METACARPAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_Y_SHAPED_METACARPAL	CPLANE1	FAM149B1	TMEM216	KIF7	TOPORS	OFD1	INTU	TCTN3	PDE6D	KIAA0753
HP_INCREASED_LAXITY_OF_FINGERS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_LAXITY_OF_FINGERS	COMP	COL6A3	COL12A1	COL6A2	COL6A1
HP_SWAN_NECK_LIKE_DEFORMITIES_OF_THE_FINGERS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SWAN_NECK_LIKE_DEFORMITIES_OF_THE_FINGERS	PTPN22	PEX5	SACS	PCDHGC4	IL10	NFKBIL1	CIITA	CD244	SLC22A4
HP_MESOAXIAL_HAND_POLYDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MESOAXIAL_HAND_POLYDACTYLY	CPLANE1	LZTFL1	FAM149B1	TWIST1	CHSY1	HOXD13	GLI3	MKKS	MAP3K20	TFAP2B	FGFR2
HP_DECREASED_PALMAR_CREASES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_PALMAR_CREASES	CHST14	AUTS2	PIEZO2	PLOD3	DSE
HP_DEEP_PALMAR_CREASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEEP_PALMAR_CREASE	ASXL2	PRR12	MTX2	CDK10	MTOR	ATP6V0A2	AIP	TBL1XR1	BRAF	OTUD5	LTBP1	KCNN3	MAP2K1	SPECC1L	SHOC2	GPR101	RBM10	VPS33A	KRAS	HNRNPK	DPYD	SLC25A24	MAP2K2	ATP6V1B2	ASXL3	HRAS	ASXL1	SPRED2	KCNH1
HP_PHALANGEAL_DISLOCATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHALANGEAL_DISLOCATION	AEBP1	COL1A1	B3GALT6	COL5A2	COL5A1	CANT1	B4GALT7
HP_ENLARGED_INTERPHALANGEAL_JOINTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_INTERPHALANGEAL_JOINTS	HOXD13	CCN6	MATN3	COL2A1	KAT6A
HP_LIMITED_WRIST_MOVEMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_WRIST_MOVEMENT	ZMPSTE24	GNPTAB	MAP3K7	GNE	SALL4	OPA3	LAMB2	MYH7	SHOX	PIEZO2	TRAPPC2	LMNA	FLNA	COLQ	GDAP1
HP_LIMITED_WRIST_EXTENSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_WRIST_EXTENSION	LAMB2	MYH7	PIEZO2	GNE	COLQ
HP_INTERPHALANGEAL_JOINT_EROSIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERPHALANGEAL_JOINT_EROSIONS	PTPN22	MMP2	IL10	NFKBIL1	CIITA	CD244	SLC22A4
HP_ABNORMALITY_OF_HAND_JOINT_MOBILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_HAND_JOINT_MOBILITY	PKDCC	GNPTAB	PROKR2	RAB3GAP2	COL6A3	HYAL1	ASAH1	SP7	CSGALNACT1	COL6A2	PLAA	COL12A1	GORAB	PIGG	YY1	PTDSS1	NLRP1	GNB2	CCN6	FGD1	COL3A1	NFASC	HDAC4	HRAS	MED12	RNF13	TMCO1	IFITM5	KCNH1	PRR12	HNRNPDL	COMP	COL1A2	BRAF	COL6A1	FLNC	LMX1B	KRT1	SMS	RPS6KA3	OTUD6B	COL5A1	P4HTM	FBN1
HP_ABNORMALITY_OF_CARPAL_BONE_OSSIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CARPAL_BONE_OSSIFICATION	TRPV4	EXTL3	DDR2	FLNB	SLC10A7	SETD2	PTH1R	ABCC6	COL2A1	BGN	MBTPS1	TRIP11	B3GALT6	GPC4	TONSL	CHST3	RMRP	HOXA13	MATN3	EXOC6B	XYLT1	EBP	LEMD3	PIGV	CANT1	LONP1	IHH	SLC34A2	ENPP1	GPC3	SLC35D1	UFSP2
HP_ABNORMAL_PHALANGEAL_JOINT_MORPHOLOGY_OF_THE_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PHALANGEAL_JOINT_MORPHOLOGY_OF_THE_HAND	HOXD13	NLRP3	BCOR	ADAT3	TNNI2	CHRNG	COL2A1	RPL10	HES7	SHH	IDS	COG5	NAA10	NSD1	MEGF10	MYOD1	LMNA	FLNA	CASZ1	CCBE1	ORC1	ADAMTS3	GPKOW	FBXO28	SETD2	FAT4	TGFBR1	SPEN	OCRL	PAX3	PIGL	DVL3	SLC26A2	FZD2	XYLT1	CDT1	SMG9	COL11A2	CD244	SKI	ORC6	HSPG2	WFS1	ARID1B	COL11A1	TCTN3	CIITA	WNT5A	IPO8	SMOC1	SLC39A13	EFNB1	TGDS	MMP2	H4C9	MBTPS2	TGFBR2	ZMPSTE24	KAT6A	GNPTAB	TPM2	MED12	COL6A3	TRPS1	KDM5B	PIEZO2	PTPN22	NALCN	ZNF407	MYL11	COL12A1	ORC4	FBN2	MUSK	TUBA1A	GJA1	LFNG	MYH3	POLR3A	CTDP1	TMEM70	CDC6	SLC35A3	ZDHHC9	TNNT3	SMAD3	ERCC5	TPRKB	DHODH	ERCC2	SUZ12	TOR1AIP1	TBX3	CANT1	NUP88	CRKL	PSMB8	GDAP1	PRG4	IDUA	PRDM16	SMC1A	LUZP1	SH3PXD2B	MKS1	COL6A2	ASXL3	ARPC4	WDR4	KAT6B	APC2	PORCN	TGFB3	PDPN	TRAPPC2	KCNAB2	SLC22A4	CFTR	GMNN	MAPK1	FGF9	MESP2	SMARCAD1	PEX6	NUP107	ROR2	ADAMTSL2	LIFR	NOD2	KDM5C	IGHMBP2	PCGF2	TWIST2	DVL1	TBX2	DLL3	CCN6	NUP133	CUL4B	RERE	EZH2	FBN1	BCR	LAGE3	GABRD	ANTXR2	MORC2	RTTN	RAB3GAP1	MYBPC1	SLC35A2	SALL4	PRKCZ	MAFB	UPF3B	OSGEP	NOG	CSGALNACT1	TRPV4	EMG1	GDF5	ALX3	SCARF2	FGD1	ALX1	NFKBIL1	GPC3	CHST3	ERCC6	LMBR1	EED	CRLF1	MATN3	MMP23B	CAPN3	POLR3GL	ERCC1	CLCF1	DOK7	GPC4	WDR73	TP53RK	COL6A1	HINT1	UBE4B	FERMT1	PLOD3	CDC45	MAP3K7	ACTG2	TBC1D2B	SLC18A3	NXN	IL10	SLC29A3	TLK2	LAMB3	KCNK9	ASPN	SMARCA2	L1CAM	PEX1	RIPPLY2	TBR1	TUBB3	RAPSN	MED25	FGFR3	FKTN	KRT14	IKBKG
HP_APLASIA_HYPOPLASIA_OF_THE_5TH_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_5TH_FINGER	PKDCC	ARID2	BMPR1B	TBC1D24	CDKN1C	RBBP8	BMP2	DVL1	CUL7	KDM6A	OBSL1	HOXD13	KMT2D	SMC3	PUF60	GDF5	HMGA2	GNB2	COL2A1	WNT7A	FGD1	SMARCB1	MEIS2	PLAG1	EIF4A3	TFAP2B	DPF2	IGF2	IFT140	RUNX2	SOX4	SMARCE1	SOX11	GATA1	NOG	CNOT2	ARID1A	ARID1B	SRCAP	RAC1	TBX3	SMARCA4	WNT5A	MASP1	GNAS	COX4I1	GJA1	ATP6V1B2	HOXA13	KIF15	PIK3C2A	SMARCC2	ZMYM2	HNRNPR	MAPK8IP3	SMARCD1	MYCN	ROR2	NIN
HP_APLASIA_HYPOPLASIA_OF_THE_2ND_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_2ND_FINGER	BMPR1B	KIF15	COL2A1	SRCAP	MEIS2	FIG4	GPC4	HOXD13	NSDHL	BMP2	RUNX2	GDF5	IRX5	IFT140	GPC3	MYCN	INTU
HP_APLASIA_HYPOPLASIA_OF_FINGERS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_FINGERS	PIGN	EOGT	MGP	CTSK	FANCB	IFT122	MECOM	POU1F1	GDF5	CUL7	ARSL	HOXD13	UBE2T	ZBTB20	LMNA	FGFR2	GPC4	LBR	ACAN	ZNF699	FLNA	PIGY	BMP4	SMARCB1	WIPI2	CANT1	LMNB2	SMARCE1	SALL4	RECQL4	RPS24	IGF2	IFT140	MEGF8	TRPV4	NSD2	BHLHA9	ZMPSTE24	RPS27	SHH	ADA2	SLC26A2	SMARCA4	KCNN3	TBL1XR1	LIG4	RPS28	ALOX12B	DOCK6	GJA1	SCN2A	STAMBP	SMC1A	FANCC	HNRNPR	LAMA5	ARID1B	KCNJ2	PALB2	MTX2	PTH1R	BMPR1B	RPS29	CREBBP	HOXA13	BRCA2	DVL1	PCYT1A	NOTCH1	RPL35A	RPS6KA3	CHN1	LRP4	NOG	PSMD12	TP63	FGFR3	TBX3	AP1G1	RPL26	FGF10	PIGQ	KNSTRN	PIGF	DMXL2	RAD51C	RUNX2	PCNT	PTCH1	KDM5C	RPL5	ARID1A	LHX3	COL2A1	FANCF	MAD2L2	CHD7	PRKG2	FANCA	PIGO	CHST11	PDE4D	ATP6V1B2	BRIP1	FIG4	RFWD3	LMBR1	MAFB	SMARCD1	SIK1	ROR2	ALOXE3	DHODH	FBN1	PTHLH	SVBP	SOX9	RAD21	TBX5	LETM1	MYCN	CPLX1	BMP2	PIGB	FZD2	KDM6A	MED12	EDA2R	GNB2	GPX4	SLC25A24	RIPK4	GRM7	MEIS2	ABCC9	KMT2D	GMNN	SOX11	CWC27	CNOT2	BRCA1	RAC1	WNT5A	RBPJ	ARHGAP31	REV3L	RB1	GPC3	CHST3	CDKL5	FANCI	RPS19	HESX1	FLNB	CCDC22	WDR35	PLXND1	MAPK8IP3	VAC14	RPS15A	SF3B4	PHF6	FTSJ1	COMP	POLA1	EP300	ZMIZ1	XRCC2	NOTCH2	IFT57	CASK	SON	RSPO2	ERCC4	MAP3K7	MCTP2	NXN	TCTN3	GJA8	CLCN7	GGCX	KCNH1	SRCAP	PIGP	BRF1	MASP1	EDA	GNAS	PUF60	RPS7	TRIO	ACVR1	ESCO2	PRKACB	VPS35L	BRD4	NEK1	RPL10	WNT7A	ACP5	ACTL6B	WNT10B	FGFR1	HMGA2	RPS26	FANCD2	FGD1	MEG3	IFT52	BCOR	CTBP1	PIGV	GATA1	MBD5	DLL4	ABCA12	HDAC8	FANCE	FGFRL1	MIR17HG	LTBP2	SMOC1	SLC25A22	KDM1A	SMARCA2	TRPS1	POC1A	GNAO1	RPL15	FANCL	IHH	JAG1	RPL11	CHRND	RBBP8	RPL27	TRIM8	AIFM1	CRKL	DHCR7	SLX4	EN1	PIK3CD	ARX	SMAD4	WDR19	RPS10	NEPRO	CHRNG	SUFU	PIGG	PROP1	PIK3C2A	SMARCC2	ZMYM2	BICRA	TFAP2A	MAPK1	RPL18	NELFA	ALG6	ASAH1	RPL31	NIN	KCNA1	TBC1D24	PTCH2	NSUN2	ALMS1	SCN1B	SETBP1	CDC42BPB	ASPH	BCR	NIPBL	LHX4	PLAG1	DLX5	EIF4A3	TFAP2B	COG4	SOX4	EVC2	RBM8A	DLK1	POR	TSR2	SMC3	FN1	KCNJ8	EIF2AK3	GLI1	KIF15	NFIX	PGAP2	IRX5	TWIST1	ADAMTS10	COL10A1	RPS20	PKDCC	ARID2	CDKN1C	FRAS1	GJA5	OBSL1	FANCM	RMRP	INTU	PIGW	IFT43	RPS17	PGAP3	CRIPT	RTL1	DPF2	GRIN1	CHRNA1	MTOR	NEUROD2	RPL35	SIN3A	NSDHL	COX4I1	RNU4ATAC	DYNC2LI1	FANCG	OFD1	PIGS	APC	CUL3	PORCN	RAD51	EVC	PRKACA	KMT2A	PNKP	PIGL
HP_SMALL_PLACENTA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_PLACENTA	CDKN1C	IGF2	PLAG1	PHGDH	MUSK	ZMPSTE24	LMNA	HMGA2	IGF1
HP_LARGE_PLACENTA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_PLACENTA	RTL1	ZMPSTE24	DLK1	MEG3	MKS1	LBR	LMNA	SKIC3
HP_HYPOPLASTIC_SPLEEN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_SPLEEN	MCM10	SAMD9	NDE1	STRA6	RELN	KATNB1	FAM111A
HP_REDUCED_PANCREATIC_BETA_CELLS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_PANCREATIC_BETA_CELLS	STAT3	INS	GCK	EIF2AK3	KCNJ11	ABCC8	PDX1
HP_ENAMEL_HYPOMINERALIZATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENAMEL_HYPOMINERALIZATION	ENAM	DLX3	WDR72	RELT	GPR68	PHEX	ODAPH	AMTN
HP_YELLOW_BROWN_DISCOLORATION_OF_THE_TEETH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_YELLOW_BROWN_DISCOLORATION_OF_THE_TEETH	ENAM	FAM20A	ITGB6	RELT	SLC13A5	KRT14	DLX3	SATB1	ROGDI	CNNM4
HP_ADVANCED_ERUPTION_OF_TEETH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADVANCED_ERUPTION_OF_TEETH	KRT6B	POLR3A	NEK1	JUP	CREBBP	KMT2C	KDF1	RPS6KA3	SPECC1L	KDM6A	KRT17	NSD1	LMNA	FAM20C	FGFR2	INSR	ADNP	EVC2	POLR3B	MKS1	PTH1R	GLI3	C2CD3	EHMT1	KRT6A	INTU	EVC	DHCR7	ZMPSTE24	DSP	BCL11B	KRT16	CILK1	ZSWIM6	FLNA	AMER1	CEP120	NFIX	VARS1	MID1	GTF2H5	EP300
HP_AGENESIS_OF_CENTRAL_INCISOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGENESIS_OF_CENTRAL_INCISOR	NEK1	PAX9	WNT10A	SUMO1	EIF4A3	EDARADD	AXIN2	TGFA	IRF6	FGFR1	MSX1	WNT10B	EDA	LRP6
HP_ABNORMALITY_OF_DENTAL_ERUPTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_DENTAL_ERUPTION	BRD4	BCOR	ERCC6	NEK1	PAX9	ARSB	KAT6B	SEMA3E	FAM20A	CTSK	CYP27B1	ACP5	IL11RA	DEAF1	LMNA	TRIP11	ARHGAP29	FGFR2	EDNRA	WNT10B	NAA10	KCNJ5	SMARCB1	CCBE1	ADAMTS3	ABCA5	SETD2	DPYD	EHMT1	FAT4	AMMECR1	PRKAR1A	HOXD13	EVC	SATB1	STX16	SPECC1L	HDAC8	FGF3	DHCR7	SFRP4	ARID1B	ENPP1	TGFB1	FAM111A	TCF4	GLI3	ATP6V0A2	LONP1	TONSL	TWIST2	SMARCA4	SLC39A13	LIG4	MMP2	NPHS1	ZEB2	RECQL4	ZMPSTE24	ERCC4	TNFRSF11A	CCDC8	PDGFRA	BCL11B	OBSL1	ERCC8	SUOX	IRF6	SMC1A	FLNA	LEMD2	SLC29A3	KCNJ2	DSP	PTH1R	POLR3A	GJA1	SP7	CREBBP	DVL1	KMT2C	SEC23A	TP63	RPS6KA3	IDS	FAM20C	MYSM1	MSX1	FGFR1	IQSEC2	LRP6	STAT3	SH3PXD2B	MKS1	PIGF	GNAS	C2CD3	IGF1	CDH1	FLII	HDAC4	AXIN2	RUNX2	CHST3	APC2	TRPS1	ARID1A	PUS7	BMP4	SNX14	SLC37A4	IFIH1	KCNH1	MAP3K7	GHR	RAI1	GDF5	ATP6V1B2	SMARCC2	PIK3R1	EVC2	CEP120	TGFA	SMARCD1	MID1	CDH11	ROR2	KRT6B	RAD21	TBC1D24	JUP	NSUN2	IKBKG	TNFSF11	KRT17	KIF7	NIPBL	SOX4	APC	SRCAP	CUL7	EDA2R	CHD7	ADNP	GNB2	RAB23	SEC24D	TFAP2B	SLC13A5	KRT6A	INTU	SETBP1	SRP54	SOX11	SBDS	DMP1	NSD1	INSR	PIGA	WNT5A	FGD1	SMC3	IL6ST	ZBTB7A	PDGFRB	ADAMTSL1	GLI1	CLCN7	KRT16	ANTXR1	SMCHD1	TCIRG1	PTHLH	ARID2	MIA3	KDF1	SUMO1	KDM6A	CAMK2B	P4HB	RIC1	UBR1	NECTIN1	PAPPA2	ELMO2	SNX10	FLNB	PDE4D	KCTD1	DNAJC21	POLR3B	ERCC1	SH3BP2	EFL1	DPF2	RHOA	SMARCE1	EDA	OCRL	EDARADD	THRA	PTCH1	DYNC2LI1	CYP2R1	ANAPC1	DLX4	CILK1	WNT10A	ZSWIM6	SLC1A2	AMER1	PORCN	NFIX	TRIO	VARS1	CA2	VDR	PRKACA	DLG1	GTF2H5	EP300	PRKACB
HP_ENAMEL_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENAMEL_HYPOPLASIA	ITGB4	GNAS	ERCC3	SLC10A7	PAX9	CTSK	CYP27B1	IFT122	ODAPH	LRP4	COL17A1	LAMB3	WNT10B	NF1	GNB2	LAMA3	FBXO28	ERCC6	ERCC8	PLEC	OFD1	OCRL	FGFR1	PGAP1	KRT5	SATB1	STX16	TARS1	CEP152	PEX1	ATR	ITGA6	FGFR2	ERCC4	GJA1	COG6	NUP133	MMP1	CARS1	SMARCA2	DNAJC21	GTF2H5	KCNJ2	IRX5	HLA-DQA1	CREBBP	HLA-DQB1	AMBN	SLC35A2	ERCC2	EP300	RNF113A	SUMO1	LAMC2	FAM20C	FGFR3	MSX1	AMELX	FLNB	LRP6	MPLKIP	ITGB6	FGF10	CLDN1	SCUBE3	LONP1	ERCC1	PAK2	COL7A1	AXIN2	IRF6	RHOA	GALNT3	RUNX2	AIRE	NECTIN4	PCNT	ALDH3A2	GTF2E2	TP63	EDA	GRHL2	TRIM37	DDX59	EDARADD	DLX3	CYP2R1	PIK3C2A	WNT10A	ACP4	LMX1B	TTC7A	PORCN	KRT14	TGFA	SP6	VDR	SMOC2	ROGDI
HP_PROLONGED_BLEEDING_AFTER_DENTAL_EXTRACTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLONGED_BLEEDING_AFTER_DENTAL_EXTRACTION	FGB	GP1BA	F8	LMAN1	F2	F13A1	F5	F13B	ITGB3	GP9	GP1BB	VWF	FGA	SERPINE1	FGG	F10	MCFD2	F11
HP_ATROPHY_OF_ALVEOLAR_RIDGES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATROPHY_OF_ALVEOLAR_RIDGES	ELANE	C1R	LYST	C1S	CTSC
HP_WIDELY_SPACED_PRIMARY_TEETH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDELY_SPACED_PRIMARY_TEETH	ERCC6	RNF113A	ERCC8	ERCC4	ERCC1	WNT10A
HP_SOLITARY_MEDIAN_MAXILLARY_CENTRAL_INCISOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SOLITARY_MEDIAN_MAXILLARY_CENTRAL_INCISOR	DISP1	SHH	FGFR1	ZIC2	TGIF1	STIL	PLCH1	PTCH1	DLL1	SUFU	STAG2	CNOT1	GAS1	NODAL	EVC2	GLI2	CDON	BCOR	EVC	TDGF1	SIX3	FGF8	FOXH1	MID1	ANKRD11	SMC1A	SMAD2
HP_PREMATURE_LOSS_OF_PRIMARY_TEETH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_LOSS_OF_PRIMARY_TEETH	VDR	CSTB	WNT10A	EDARADD	GJA1	TNFSF11	EDAR	TCIRG1	COL3A1	FIG4	SNX10	FERMT1	CLCN7	PRKD1	TRAF6	ALPL	KDF1	C1R	VAC14	C1S	CTSC
HP_SUPERNUMERARY_MAXILLARY_INCISOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPERNUMERARY_MAXILLARY_INCISOR	TP63	IRF6	NECTIN1	NHS	MSX1
HP_HYPOPLASIA_OF_THE_PRIMARY_TEETH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_PRIMARY_TEETH	ERCC6	ERCC8	UBR1	ERCC4	ERCC1
HP_PERSISTENCE_OF_PRIMARY_TEETH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERSISTENCE_OF_PRIMARY_TEETH	SFRP4	PUS7	FAM111A	CTSK	DVL1	WNT5A	KCNJ2	KIF7	IL6ST	SOX4	ZBTB7A	SRCAP	BCOR	KCNJ5	ZMPSTE24	TNFSF11	RAB23	STAT3	TFAP2B	EHMT1	RHOA	CA2	PTH1R	FLNA	LMNA
HP_PEG_SHAPED_MAXILLARY_LATERAL_INCISORS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PEG_SHAPED_MAXILLARY_LATERAL_INCISORS	NEK1	PAX9	BMP4	SUMO1	TP63	EDARADD	ARHGAP29	MSX1	NECTIN1	WNT10B	PDGFRA	LRP6	KAT6A	IRF6	FGF3	DLX4	WNT10A	CDH1	AXIN2	TGFA	FGFR1	DLG1	EDA
HP_ABNORMALITY_OF_PRIMARY_MOLAR_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_PRIMARY_MOLAR_MORPHOLOGY	PAX9	ADAMTS2	WNT10A	SUMO1	SMARCAL1	EDARADD	AXIN2	TGFA	IRF6	FGFR1	MSX1	WNT10B	EDA	LRP6
HP_AGENESIS_OF_PERMANENT_TEETH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGENESIS_OF_PERMANENT_TEETH	CREBBP	MESD	DVL3	RECQL4	GNB2	RIPK4	KCTD1	SATB2	RAB23	WNT10A	UBR1	MSX1	OFD1	WDR35	LRP6	EP300	C1R	C1S
HP_FAILURE_OF_ERUPTION_OF_PERMANENT_TEETH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FAILURE_OF_ERUPTION_OF_PERMANENT_TEETH	SMCHD1	MAP3K7	PTH1R	TCF4	FLNB
HP_PREMATURE_LOSS_OF_PERMANENT_TEETH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_LOSS_OF_PERMANENT_TEETH	ELANE	RSPO1	LRP4	TP63	ALPL	ITGB4	CAT
HP_IRREGULAR_FEMORAL_EPIPHYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRREGULAR_FEMORAL_EPIPHYSIS	TRPV4	PEX5	COL9A1	RNU4ATAC	CDC6	UFSP2	ADAMTSL2	RPL13	COL2A1	COL11A1
HP_CRUMPLED_LONG_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRUMPLED_LONG_BONES	P4HB	CRTAP	LRP5	COL1A2	SEC24D	COL1A1
HP_LIMITED_ELBOW_FLEXION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_ELBOW_FLEXION	FZD2	GPC6	KCNK9	MYOT	PTH1R	LMX1B	SLC26A2	STXBP1	CHST3	ASXL1
HP_KNEE_FLEXION_CONTRACTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KNEE_FLEXION_CONTRACTURE	MYH3	ERCC6	MAP3K20	ESCO2	SNAP25	KAT6B	MYL1	DHX16	PI4KA	CFL2	GJB2	HS2ST1	PTH1R	MYO9A	GFPT1	COL12A1	ZBTB20	ALG2	PTDSS1	FBN1	RTTN	GNB2	GLI3	TELO2	FKBP10	SDHB	CNTNAP1	MEGF8	UBA1	TRPV4	SLC18A3	SIK3	BAG3	SLC39A8	SCARF2	ATP6V1E1	CPT2	PIGY	NALCN	COL6A1	UNC80	SELENON	SRD5A3	DPM1	MYL11	FBN2	FLNA	DPAGT1	GJB6	JAG2	ERCC1	LGI4	GMPPB	SVIL	GNPTAB	PSAT1	PLOD2	CHRNB1	KY	COL6A2	CHRNG	ERLIN1	LIFR	TPM3	LMBRD2	NT5C2	PIEZO2	SDHAF1	ERLIN2	C19orf12	RPL10	SLC25A46	SCYL2	ERGIC1	SDHA	PIGA	PSTPIP1	MYL2	COL25A1	SYT2	TPM2	ITGA7	TRIM2	LBR	DDR2	DMD	SDHD	ACTA1	PIK3R2	COL6A3	ALG14	RNU4ATAC	HACD1	LMX1B	BICD2	FDFT1	ANKLE2	EMD
HP_SHORT_LOWER_LIMBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_LOWER_LIMBS	ALPL	GNA11	MMP13	COL2A1	SLC26A2	LAMA5	FN1	PPIB	EXT1	ARL6IP6	EXT2	NOG
HP_LIMITED_KNEE_FLEXION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_KNEE_FLEXION	GPC6	ECEL1	FLNC	VCP	FLNA
HP_OVERTUBULATED_LONG_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVERTUBULATED_LONG_BONES	ZMPSTE24	ATP6V1B2	LMNA	KCNN3	KCNH1
HP_INCREASED_DENSITY_OF_LONG_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_DENSITY_OF_LONG_BONES	MTAP	STX16	SOST	TNFSF11	GNAS	CA2	FLNA	CSF1R	ANO5	SETBP1	TNFRSF11A	TGFB1
HP_LIMITED_PRONATION_SUPINATION_OF_FOREARM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_PRONATION_SUPINATION_OF_FOREARM	MASP1	SMAD6	IFITM5	MET	HOXA11	COLEC10	MECOM	LMX1B	COLEC11
HP_BROAD_FEMORAL_NECK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_FEMORAL_NECK	MATN3	COMP	RAB3GAP2	CCN6	DYM	CANT1	RAB33B	TMEM53	SLC39A13	UFSP2	ARCN1	ACVR1	SLC26A2	COL10A1	PTH1R
HP_PROXIMAL_FEMORAL_METAPHYSEAL_ABNORMALITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_FEMORAL_METAPHYSEAL_ABNORMALITY	COL10A1	CSPP1	CFAP410	KIAA0586	TRPV4	SBDS	UFSP2	DNAJC21	SRP54
HP_RADIOULNAR_DISLOCATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RADIOULNAR_DISLOCATION	AEBP1	POR	B3GALT6	CANT1	EXOC6B
HP_PATELLAR_APLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATELLAR_APLASIA	CDC6	RBM8A	LMBR1	ORC6	KAT6B	SHH	BHLHA9	CHRNG	CDT1	ORC4	ORC1	DONSON	STXBP1	RECQL4	ANAPC1	LMX1B	WNT7A	CDC45	GMNN	ESCO2	TBX4	SHOX
HP_INCREASED_LAXITY_OF_ANKLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_LAXITY_OF_ANKLES	COMP	COL6A3	GLI3	PYCR2	MFN2	COL6A2	COL6A1
HP_PROXIMAL_FEMORAL_EPIPHYSIOLYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_FEMORAL_EPIPHYSIOLYSIS	DNAJC21	EFL1	SRP54	RSPRY1	RET	SBDS	PCNT	BRF1
HP_ANKLE_FLEXION_CONTRACTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANKLE_FLEXION_CONTRACTURE	FIG4	SPG11	PSAT1	DDR2	MAP3K20	ESCO2	COL6A2	PI4KA	TPM3	COL12A1	NT5C2	COL6A1	TOR1AIP1	ERLIN2	C19orf12	RPL10	SPTBN4	SCYL2	RTTN	ERGIC1	ALAD	FKBP10	ATP5F1D	MYL2	KLHL9	C18orf32	SETD2	COL25A1	RYR1	DYRK1A	SYT2	TPM2	ITGA7	SGCA	SLC1A4	UBA1	APC2	PNPT1	NSD1	ACTA1	MMP2	ANO5	DAG1	HACD1	COL6A3	SELENON	VARS1	CAPN3	DPM1	FLNA	NEB	LGI4	SVIL
HP_ABNORMALITY_OF_THE_ALVEOLAR_RIDGES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ALVEOLAR_RIDGES	TBC1D24	TOPORS	SH3PXD2B	WDR4	OFD1	GJA1	CPLANE1	KIF7	SNRPN	FIG4	DHCR7	BRF1	KIAA0753	NTRK1	RERE	GNPTAB	SH3BP2	SETBP1	TMEM216	C1R	DPH5	CTSC	TCTN3	LYST	PIGA	IRF6	GNS	ARX	DHCR24	TBX15	ELANE	DIS3L2	FAM149B1	ATP6V1B2	EVC2	ZC4H2	CD96	RBM10	EVC	VAC14	ASXL1	C1S	FTO	PDE6D
HP_ABNORMAL_DENTAL_PULP_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DENTAL_PULP_MORPHOLOGY	NEK1	IFT122	PAX9	FAM20A	GJA1	SUMO1	DLX3	DEAF1	COL5A2	NF1	TP63	MSX1	WNT10B	IQSEC2	LRP6	BRF1	IFT43	LAMB3	WRAP53	TERT	DSPP	WDR19	FLII	AXIN2	IRF6	GALNT3	FGFR1	USB1	CTC1	EDA	OCRL	FGF3	DKC1	IFT52	EDARADD	PEX1	NPM1	NHP2	RAI1	NOP10	PARN	WDR35	COL1A1	TINF2	WNT10A	COL5A1	TGFA	PEX6	RTEL1	TYMS	SMOC2	TERC
HP_PREMATURE_LOSS_OF_TEETH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_LOSS_OF_TEETH	ELANE	KRT14	POLR3A	VDR	MIA3	RBM28	CSTB	LRP4	SEC23A	GJA1	TNFSF11	EDAR	CYP27A1	COL3A1	LMNA	WNT10A	C1R	CLPB	FIG4	SNX10	FERMT1	TINF2	NTRK1	PIGT	ZMPSTE24	SH3PXD2B	ITGB4	TNFRSF11A	EDARADD	CAT	AEBP1	CTSC	RSPO1	GFI1	CDH11	TCIRG1	DKC1	RUNX2	SLC35C1	PLEKHM1	ERCC4	TNFRSF11B	CLCN7	PRKD1	TRAF6	TERT	PARN	TP63	ALPL	KDF1	SRP54	TERC	VAC14	NOTCH2	C1S
HP_ABNORMALITY_OF_PRIMARY_TEETH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_PRIMARY_TEETH	VDR	HNRNPK	CSTB	PAX9	CTSK	DVL1	GJA1	SUMO1	TNFSF11	EDAR	CAMK2B	KCNJ2	DEAF1	KIF7	COL3A1	WNT10A	SNRPN	SOX4	MSX1	EDNRA	SRCAP	WNT10B	FIG4	SNX10	BCOR	IQSEC2	FERMT1	LRP6	KCNJ5	RAB23	STAT3	PURA	UBR1	ERCC6	ERCC8	ERCC1	EDARADD	TFAP2B	EHMT1	FLII	AXIN2	IRF6	C1R	RHOA	PTH1R	FGFR1	RUNX2	CTSC	EDA	TMCO1	B4GALT7	RNF113A	SFRP4	PUS7	FAM111A	ADAMTS2	SMARCAL1	WNT5A	TCIRG1	RAI1	IL6ST	ZBTB7A	FGFR2	ERCC4	ZMPSTE24	CLCN7	PRKD1	TRAF6	ALPL	LEMD2	KDF1	TGFA	CA2	VAC14	FLNA	LMNA	C1S
HP_ABNORMALITY_OF_DENTAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_DENTAL_MORPHOLOGY	BCOR	ADGRV1	NEK1	WDR4	MGAT2	PAX9	VPS37D	SH3BP2	IFT122	CTCF	GJB2	HS2ST1	KIAA0753	DEAF1	NHP2	COL3A1	ARHGAP29	IDS	WNT10B	NAA10	EDAR	EP300	CDH3	POLR1C	LAMB3	PITX2	CCBE1	TERT	ADAMTS3	FBXO28	FAT4	METTL27	CDH1	IFT140	MBD5	EVC	ELN	CTNND1	SATB1	VPS51	SIX1	FGF3	DHCR7	ARID1B	ATP6V0A2	MYO7A	LONP1	PLEKHM1	TONSL	SMARCA2	CCDC47	NOP10	GTF2IRD1	EDA	CHSY1	NHS	ZEB2	ANKRD11	RECQL4	GJA1	PDGFRA	PARN	KAT6A	WDR35	TP63	CLCN7	PIK3R1	IRF6	TINF2	EDARADD	CACNA1C	GRIA3	RTEL1	MAPK1	BCL11B	ADAMTS10	CREBBP	BCL7B	NFKBIA	MLXIPL	MAPRE2	SEC23A	VPS13B	RPS6KA3	NCF1	RUSC2	FAM20C	FGFR3	MSX1	IQSEC2	LRP6	BRF1	NECTIN1	FGF10	FARS2	PURA	PIGF	FKBP6	FLII	AXIN2	GALNT3	WDR19	RFC2	USB1	CTC1	PCNT	TBL2	TMCO1	TRPS1	PORCN	ADAMTS2	BMP4	CDH11	SMARCAL1	KRAS	DLX3	GTF2I	NPM1	IFIH1	GHR	MCOLN1	RAI1	MED12	PIK3C2A	ATP6V1B2	PRKD1	CLIP2	WNT10A	TSPEAR	PQBP1	TGFA	PEX6	P4HB	DPF2	EYA1	STX1A	DHODH	FBN1	SATB2	C1S	UBE3B	IDUA	DNAJC30	TBC1D24	CSTB	PCGF2	IKBKG	TWIST2	LTBP3	TCIRG1	TFAP2A	ABCC9	KDM6A	SNRPN	KMT2D	ANTXR2	SRCAP	EDA2R	CACNA1I	WRAP53	H4C5	EVC2	POLR1D	TCOF1	C1R	FGFR1	FOXC1	BRCA1	DKC1	ANAPC1	CDK10	IFT52	GRB10	PIGA	CHST3	ORC1	REV3L	ATR	FGFR2	PRIM1	GLI1	POLR1B	BUD23	NFIX	TRAF6	CKAP2L	B3GLCT	DNAJC21	CDK13	PLXND1	KDF1	MAPK8IP3	SLC25A24	PRKACB	TYMS	BAZ1B	PRKACA	SMOC1	SLC35A2	GJA5	WHRN	SUMO1	LMBRD2	UBR1	SMC3	DPH2	RMRP	KANSL1	EIF4H	PKP1	PLXNA1	B3GALT6	IFT43	TCF12	ALX4	GTF2IRD2	KCNMA1	LIMK1	NRAS	DHX37	RBBP8	PIGL	SMARCD2	ST14	SCNM1	RHOA	GJA8	NECTIN4	USH2A	TMEM270	OCRL	KCNK9	COL11A1	PEX1	B3GAT3	DYNC2LI1	DLX4	HRAS	PDZD7	HEPHL1	KAT6B	KRT14	DLG1	SMOC2	TERC
HP_ABNORMAL_NUMBER_OF_TEETH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NUMBER_OF_TEETH	PAX9	FGF17	ZIC2	CTSK	VPS37D	SH3BP2	IFT122	LRP4	IL11RA	EEF1A2	PLCH1	DNM1	ARHGAP29	POLR3A	TP63	TGIF1	EDAR	GABRA5	FLNA	CACNA2D1	CDK19	APC	CNOT1	PITX2	NODAL	TERT	ADAMTS3	SETD2	PRKAR1A	FZD2	EVC	SIX3	NSD2	DHCR7	DISP1	TWIST2	NTRK2	ANKRD11	RECQL4	EXT1	RPS6KA3	CCDC141	CAMTA1	ERCC4	GJA1	CREB3L1	PDGFRA	PARN	DLL1	AXIN2	PCNT	ACTL6B	EDARADD	GAS1	DCAF17	HSPG2	KCNJ2	CFAP418	STIL	SHH	PTH1R	CREBBP	MLXIPL	FOXH1	CACNA1A	MTX2	FGF8	TRPS1	DUSP6	HSPA9	FGFR3	YWHAG	TBX3	GREM2	NECTIN1	FGF10	CTNND1	SCUBE3	MSX1	C2CD3	FKBP6	CDH1	RUNX2	CTC1	HNRNPK	CTSC	APC2	GLI2	TRIO	ADAMTS2	BMP4	SMARCAL1	WNT10B	NDNF	NPM1	LRP6	ANOS1	SPRY4	ATR	CDON	POU4F1	GDF5	CLIP2	PIK3R1	EVC2	SLC37A4	ERCC6	TGFA	GABRA2	MID1	ROR2	LMNA	SATB2	AMMECR1	LETM1	FGFR1	CPLX1	IKBKG	TFAP2A	DLX3	KDM6A	GNB2	SLC25A24	KCTD1	SCN3A	WRAP53	NAA10	POLR1D	TCOF1	ATP6V1B2	IRF6	RNF13	OFD1	ERCC3	NSD1	FOXC1	REV3L	CDH11	IL6ST	B3GLCT	AARS1	WDR35	PLXND1	MAPK8IP3	TRAK1	TRMT10A	PRKACB	HCN1	ERCC8	POLR3GL	BAZ1B	ELN	CCDC28B	DVL3	AKT1	KIFBP	FLNB	RBM28	RIPK4	RPS23	SUMO1	EP300	DVL1	ATRIP	FEZF1	DSP	EIF4H	XYLT1	CLDN1	IL17RD	HUWE1	MAP3K7	ATP6V1A	ERCC1	SLC13A5	SMC1A	RHOA	NXN	RBBP8	EDA	OCRL	POLR3K	ARV1	CELF2	KCNN3	KCNE5	SMAD2	PROKR2	ACSL4	FZR1	SYNJ1	WNT10A	COL9A2	DPP6	WDR11	DLG1	SMOC2	TERC	CEP152	NEK1	BLM	SCN8A	DDX59	SUFU	NECAP1	KCNJ5	CDH3	POLR1C	POP1	CACNA1B	FGD1	CCBE1	BCOR	FGFR2	SEMA3A	FAT4	PTCH1	DCC	FGF13	CTBP1	METTL27	ATP1A3	TDGF1	SYNGAP1	AP3B2	FGF3	CNKSR2	WNT5A	FGFRL1	DHDDS	NHP2	SLC39A13	GTF2IRD1	NHS	KREMEN1	NOP10	FGF12	TINF2	LEMD2	RTEL1	BCL11B	GRHL3	BCL7B	NFKBIA	TRAIP	VPS13B	SLC38A3	NCF1	POLR3B	PPP1R15B	DLX4	UBR1	PPP3CA	SZT2	DYRK1A	WDR19	RFC2	USB1	TBL2	GRHL2	PORCN	TRIM37	TRPV3	PUS7	NEPRO	ACOX1	GTF2I	GABRB2	TACR3	GHR	PIGG	SMG8	ATP1A2	FLRT3	PARS2	PIK3C2A	TSPEAR	NELFA	KCNA2	CENPE	CENPJ	MAF	STX1A	C1S	DNAJC30	SLC10A7	PERP	PROK2	ALMS1	LTBP3	CDC42BPB	CHD7	KMT2D	SRCAP	STAG2	RAB23	HMGA2	EIF4A3	C1R	DALRD3	KCNH1	NUP85	HESX1	CHSY1	ARL6	DKC1	IFT52	HS6ST1	PUF60	PTEN	GLI1	ZMPSTE24	POLR1B	BUD23	TRAF6	CKAP2L	DNAJC21	WWOX	LMNB1	KDF1	GABRG2	IRX5	TYMS	KCNB1	CLTC	PTHLH	DYNC2LI1	KIF1C	RMRP	GRIN2D	MESD	NKX2-1	IFT43	PLK4	TCF12	LEMD3	GTF2IRD2	LIMK1	DHX37	MBTPS2	PIGL	PPP2R3C	MSX2	SCNM1	TMEM270	LAMB3	GABBR2	SOX10	CYFIP2	CEP85L	OTUD5	UBA5	NUS1	SLC1A2	ANAPC1	BBS1	KRT14	PRKACA
HP_AGENESIS_OF_INCISOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGENESIS_OF_INCISOR	GLI2	NEK1	RIPK4	PAX9	BMP4	BLM	ERCC3	SUMO1	CDC42BPB	TP63	EDARADD	DLX3	EDA	ARHGAP29	CDH11	MSX1	NECTIN1	WNT10B	PDGFRA	LRP6	BCOR	IRF6	DLX4	WNT10A	B3GLCT	NAA10	EIF4A3	CDH1	AXIN2	TGFA	FGFR1	DLG1
HP_BOWING_OF_THE_ARM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BOWING_OF_THE_ARM	VPS35L	B2M	RBM8A	SP7	GDF5	GLI3	WNT7A	COL11A1	PRKG2	IFT43	KIAA0753	FGF23	SHOX	SCARF2	B3GALT6	P3H1	TRIP11	RNU4ATAC	RIPK4	CHST3	RSPO2	FLNB	KDELR2	FGFR3	CILK1	FGFR2	HOXA11	TRPV4	LAMA5	NPR2	TMEM67	POR	MMP13	SLC26A2	PCNT	RECQL4	ROR2	LBR	COL2A1	FLNA
HP_ABNORMAL_LOWER_LIMB_METAPHYSIS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LOWER_LIMB_METAPHYSIS_MORPHOLOGY	COL10A1	COMP	CSPP1	COL11A2	TRPV4	PHEX	EZH2	SBDS	SETBP1	CFAP410	RASA1	RB1	KIAA0586	TP53	CHEK2	FGFR3	UFSP2	AIFM1	TRIP11	DNAJC21	SRP54
HP_APLASIA_HYPOPLASIA_OF_THE_FIBULA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_FIBULA	BMPR1B	CPLANE1	RBM8A	FLNA	SOX9	LMBR1	FLNB	IFT122	GDF5	INPPL1	WNT7A	BHLHA9	SMOC1	DYNC2H1	SHOX	AFF3	ATR	COL11A1	TBX15	SLC35D1	EIF4A3	AMER1	INTU	GPC6	PTH1R	MET	AFF4	SF3B4
HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_LOWER_LIMBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_LOWER_LIMBS	EOGT	KAT6B	CTSK	COL2A1	IFT122	GDF5	FBXL4	HTT	BHLHA9	CUL4B	ARSL	CDKL5	HOXD13	DLK1	SHH	GPC4	LBR	IFNGR1	RTL1	HYLS1	FLNA	CASZ1	COL11A1	EP300	RNU4ATAC	ORC1	DYNC2I1	CANT1	RMRP	RECQL4	CAMK2A	PRKAR1A	IFT140	CDT1	WDR35	MECP2	NSD2	MAGEL2	HSPG2	TCTN3	TCF4	RSPRY1	DYNC2H1	LMNA	KCNN3	TBL1XR1	TAPT1	LIG4	CHSY1	ALOX12B	TRAF3IP1	DOCK6	KAT6A	TTC21B	FGFR3	BMP2	SMC1A	SLC26A2	HNRNPR	DYM	LAMA5	TMEM67	ZNF407	ORC4	KCNJ2	GJA1	PTH1R	BMPR1B	ALG12	TP63	POLR3A	CDC6	DYNC2I2	HOXA13	SATB2	MTX2	DDRGK1	NOTCH1	CHRNG	CFAP410	NOG	MAP3K20	PRG4	PRDM16	PIGF	LMBR1	GNAS	BPNT2	C12orf57	FLNB	TBCE	TBX4	RUNX2	KDM5C	ADAMTS2	PDPN	TRPV4	CHD7	SLC39A13	PRKG2	PHYH	ATR	CHST11	PDE4D	LTBP3	ATP6V1B2	HDAC8	FIG4	TRRAP	GPC6	FGFR2	NDN	ALOXE3	FBN1	PTHLH	SRY	IDUA	SVBP	SOX9	RAD21	GNA11	LETM1	MYCN	CPLX1	KDM4B	SNORD115-1	NGLY1	DYNC2LI1	GABRD	STXBP1	PWRN1	EXT2	ADA	LAS1L	SHOX	GPX4	CDC45	GALNT2	RIPK4	MMP13	IGF1R	UBR7	HDAC4	ABCC9	PWAR1	INTU	GMNN	SALL1	OFD1	FKBP10	DNMT3A	DONSON	RBPJ	ARHGAP31	MEG3	SLC35C1	GPC3	GABBR2	CHST3	TBX15	RAG1	CENPE	B3GLCT	PRMT7	MMP23B	VPS13B	MAPK8IP3	VAC14	ASXL1	AFF4	OCA2	CCDC28B	SF3B4	PHF6	SNRPN	ZMIZ1	WASF1	NOTCH2	FLI1	NTNG1	CCN6	KNSTRN	HUWE1	MAP3K7	LZTFL1	DYRK1A	HBA2	SIL1	EXT1	SMARCA2	KCNH1	EZH2	COMP	MASP1	IFT80	MATN3	SLC35D1	AMER1	SIM1	PIK3CD	ACVR1	DACT1	ROR2	ATP7A	FMR1	VPS35L	BRD4	PPM1D	GRIP1	NEK1	HBA1	SPART	WDR19	WNT7A	WNT10B	B3GALT6	MMP9	AFF3	MKRN3	FGFR1	HDAC6	FN1	KCNJ5	GLI3	NANS	POP1	FGD1	IFT52	IL7R	SPEN	CTBP1	AMMECR1	MBD5	DLL4	SKI	SATB1	ORC6	ARID1B	INPPL1	FGFRL1	TBX3	TONSL	SMOC1	PEX5	GJB2	CCDC47	TRIP11	H4C3	PAPSS2	WDR81	EXOC6B	TRPS1	POC1A	CHD4	IHH	FAM50A	IL2RG	ALPL	IFT172	BGN	SPECC1L	AIFM1	DHCR7	FBXO11	MGP	LMX1B	PIGV	LUZP1	TBX22	SMAD4	KIF5C	PPIB	UBE2A	CHUK	COL3A1	CDH11	TUBB3	GHR	TRAPPC2	PIGG	KCNAB2	CCBE1	HERC2	ZMYM2	PIGN	CEP120	NELFA	ASAH1	XYLT1	ADAMTSL2	HEATR3	NPAP1	TBC1D24	SLC10A7	NSUN2	ALMS1	CDC42BPB	RERE	TNNT3	DYNC1H1	RAB23	TELO2	DLX5	SNORD116-1	TNFRSF11A	SALL4	EIF4A3	SLC35A2	PRKCZ	COG4	CAMK2G	SUCLG1	RBM8A	AGPS	TWIST1	ARL6	PEX7	RAG2	RAB33B	PUF60	SMC3	COG1	KCNJ8	LRP4	DCHS1	PITX1	CTC1	USP7	CERT1	ESCO2	ZSWIM6	MET	ARL6IP6	GJB6	CPLANE1	RAB3GAP2	MIA3	SON	LIFR	DCLRE1C	HINT1	UBE4B	NIPBL	MSL3	USP9X	PIGL	NPR2	FAT4	WLS	RNF2	SIN3A	NSDHL	COX4I1	PIK3C2A	PIGS	ANAPC1	APC	BBS1	PORCN	HEPHL1	KMT2A
HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_FEET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_FEET	EOGT	CTSK	IFT122	GDF5	FBXL4	HTT	CUL4B	ARSL	CDKL5	HOXD13	DLK1	GPC4	LBR	RTL1	FLNA	CASZ1	COL11A1	EP300	DYNC2I1	CANT1	RMRP	PRKAR1A	IFT140	WDR35	MECP2	NSD2	MAGEL2	HSPG2	TCF4	LMNA	KCNN3	TBL1XR1	LIG4	CHSY1	ALOX12B	DOCK6	KAT6A	TTC21B	BMP2	SMC1A	HNRNPR	DYM	ZNF407	BHLHA9	KCNJ2	GJA1	BMPR1B	TP63	DYNC2I2	DYNC2H1	HOXA13	SATB2	NOTCH1	NOG	MAP3K20	PRDM16	PIGF	GNAS	BPNT2	C12orf57	TBCE	KDM5C	ADAMTS2	PDPN	TRPV4	PRKG2	PHYH	CHST11	PDE4D	LTBP3	RECQL4	ATP6V1B2	HDAC8	FIG4	TRRAP	FGFR2	NDN	ALOXE3	FBN1	PTHLH	SRY	SVBP	SOX9	RAD21	LETM1	MYCN	CPLX1	KDM4B	SNORD115-1	NGLY1	DYNC2LI1	GABRD	PWRN1	ADA	LAS1L	FGFR3	GPX4	GALNT2	RIPK4	IGF1R	HDAC4	ABCC9	PWAR1	SALL1	OFD1	DNMT3A	RBPJ	ARHGAP31	MEG3	SLC35C1	GPC3	GABBR2	RAG1	CENPE	B3GLCT	PRMT7	FLNB	MMP23B	VPS13B	MAPK8IP3	VAC14	ASXL1	OCA2	CCDC28B	PHF6	SNRPN	ZMIZ1	WASF1	NOTCH2	SHOX	FLI1	NTNG1	KNSTRN	HUWE1	MAP3K7	LZTFL1	DYRK1A	HBA2	COL2A1	SIL1	SMARCA2	KCNH1	EZH2	MASP1	IFT80	SIM1	PIK3CD	ACVR1	PTH1R	RSPRY1	DACT1	ROR2	FMR1	VPS35L	BRD4	PPM1D	LMBR1	GRIP1	NEK1	HBA1	SPART	WDR19	WNT7A	WNT10B	MKRN3	FGFR1	HDAC6	KCNJ5	GLI3	FGD1	IFT52	IL7R	SPEN	CTBP1	MBD5	SLC26A2	DLL4	SKI	SATB1	ARID1B	INPPL1	FGFRL1	TBX3	TONSL	SMOC1	CCDC47	TRIP11	H4C3	WDR81	CHD7	TRPS1	POC1A	IHH	FAM50A	IL2RG	IFT172	BGN	SPECC1L	DHCR7	FBXO11	MGP	PIGV	LUZP1	TBX22	SMAD4	KIF5C	UBE2A	COL3A1	TUBB3	GHR	PIGG	RNU4ATAC	KCNAB2	CCBE1	HERC2	ZMYM2	PIGN	CEP120	NELFA	ASAH1	ADAMTSL2	HEATR3	NPAP1	TBC1D24	NSUN2	ALMS1	CDC42BPB	RERE	TNNT3	DYNC1H1	RAB23	TELO2	DLX5	SNORD116-1	SALL4	EIF4A3	PRKCZ	COG4	CAMK2G	TWIST1	ARL6	PEX7	RAG2	RAB33B	PUF60	SMC3	COG1	KCNJ8	LRP4	DCHS1	SF3B4	USP7	CERT1	RAB3GAP2	MIA3	SON	DCLRE1C	HINT1	UBE4B	NIPBL	MSL3	USP9X	PIGL	NPR2	FAT4	WLS	RNF2	SIN3A	NSDHL	COX4I1	PIGS	APC	BBS1	PORCN	HEPHL1	KMT2A
HP_APLASIA_HYPOPLASIA_OF_THE_ULNA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_ULNA	VPS35L	B2M	LMBR1	TBX5	BRCA2	FANCB	DHODH	LRP4	GDF5	WNT7A	BHLHA9	UBE2T	FANCM	PRKAR1A	TBX3	CUL7	SLX4	PDE4D	RPL26	SHOX	COL2A1	ERCC4	FANCL	SALL4	RAD51C	FANCD2	RECQL4	NOG	RBM8A	BRCA1	MAD2L2	IHH	CHD7	DYNC2H1	FANCA	FANCI	SCARF2	FANCE	FGFR2	FANCF	CHST3	FANCG	CCDC8	OBSL1	EXOC6B	APC	BRIP1	FLNB	PIGT	JAG1	RAD51	RFWD3	XRCC2	PALB2	BMPR1B	FANCC	ROR2	SF3B4
HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_UPPER_LIMBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_UPPER_LIMBS	MGP	MECOM	POU1F1	LRP4	GDF5	BHLHA9	CUL4B	CDKL5	HOXD13	ZBTB20	LMNA	GPC4	LBR	ZNF699	HYLS1	PIGY	BMP4	SMARCB1	RNU4ATAC	LMNB2	SALL4	GNPTAB	PRKAR1A	FZD2	MEGF8	TRPV4	NSD2	ZMPSTE24	SHH	ADA2	SLC26A2	DYNC2H1	KCNN3	RPS28	CHSY1	MECP2	DOCK6	CCDC8	OBSL1	RBM10	STAMBP	UNC80	FANCC	HNRNPR	ARID1B	KCNJ2	PALB2	PTH1R	TWIST2	RPS29	TP63	CREBBP	POLR3A	BRCA2	DHODH	DVL1	NOTCH1	FGF9	RPL35A	RPS6KA3	CHN1	PIGN	NOG	PSMD12	FGFR3	KAT6B	RPL26	BMPR1B	FGF10	PIGQ	SCUBE3	GNAS	BPNT2	LONP1	DYM	RUNX2	KDM5C	ARID1A	LHX3	COL2A1	MAD2L2	CHD7	MAP3K7	WAC	SMC1A	RECQL4	BRIP1	EXT2	RMRP	TBCE	DLX5	LMBR1	MAFB	NDN	SIK1	ALOXE3	WNT10B	FBN1	PTHLH	SRY	GNAS-AS1	RAD21	PCGF2	FLNB	LETM1	MYCN	SNORD115-1	PIGB	CAMTA1	NGLY1	KDM6A	EDA2R	LAS1L	ADNP	SHOX	SLC25A24	GALNT2	RIPK4	IGF1R	FBXW4	GRM7	HDAC4	MEIS2	ABCC9	GSC	KMT2D	TCF4	FLNA	WNT5A	RBPJ	MEG3	RB1	GPC3	FANCI	HESX1	PRMT7	WDR35	PLXND1	VPS13B	MAPK8IP3	RFWD3	VAC14	RPS15A	IFT122	ZMIZ1	NOTCH2	SON	EVC2	MCTP2	TMEM53	NXN	TCTN3	GJA8	PIGO	ZIC3	SOX11	SNRPN	MAGEL2	IGF2	KCNH1	SRCAP	COMP	MASP1	IFT80	TRIP11	MATN3	PTDSS1	SIM1	TRIO	PIK3CD	ACVR1	ATP7A	CNOT3	ESCO2	IKBKG	PRKACB	VPS35L	BRD4	PPM1D	NEK1	ACP5	B3GALT6	MKRN3	FGFR1	PEX7	ERCC4	HMGA2	KCNJ5	GLI3	NANS	IFT52	BCOR	CTBP1	GATA1	DVL3	MBD5	XYLT1	DPH1	SATB1	INPPL1	TGFB1	FGFRL1	TONSL	SMOC1	PEX5	COL11A2	SLC25A22	RTL1	WDR81	TRPS1	PIK3R1	GNAO1	CPLX1	FANCL	MMP9	FGFR2	JAG1	WNT7A	SLC6A17	IFT81	HOXA13	MYSM1	CRKL	PIGV	EN1	SIN3A	ARX	SMAD4	WDR19	KDM1A	CHUK	HDAC8	GPC6	SUFU	PIGG	DONSON	ALG13	BPTF	HERC2	SMARCC2	BICRA	MAPK1	RPL18	ALG6	ATP6V1B2	XRCC2	ASAH1	RPL31	OCA2	ROR2	NIN	TBC1D24	NSUN2	SCN1B	STX16	EPS15L1	ANTXR2	MYH3	RPS19	EIF4A3	TFAP2B	SETBP1	DNMT3A	CAMK2G	SOX4	DLK1	RAD51C	AGPS	POR	PUF60	SF3B4	RPL10	ORC1	FGD1	COG1	KCNJ8	FANCF	GLI1	DCHS1	NFIX	PGAP2	TNNI2	COL10A1	RPS20	CDKN1C	SH3PXD2B	SEMA5A	CWC27	GJA5	TBL1XR1	UBE2T	FANCM	MMP13	FERMT1	PIGW	IFT43	RPS17	PPP2R3C	NPR2	DPF2	DDR2	USP9X	RNF2	NEUROD2	FANCE	PUM1	FANCG	ANAPC1	PORCN	EOGT	CTSK	FANCB	HTT	CUL7	ARSL	KIAA0753	ACAN	COL11A1	WIPI2	DYNC2I1	CANT1	FBXO28	SMARCE1	EXTL3	RPS24	FBXL3	IFT140	EVC	SPECC1L	DHCR7	RPS27	RSPRY1	SMARCA4	LIG4	ALOX12B	GJA1	NALCN	GPX4	SCN2A	BMP2	CD96	LAMA5	DPM1	MTX2	ALG12	ASXL2	PCYT1A	TBX3	AP1G1	KNSTRN	PIGF	DMXL2	PCNT	PTCH1	RPL5	WRN	PRKG2	FANCA	INPP5K	ATR	SMARCD1	CHST11	PDE4D	TNFRSF11B	FIG4	KLHL15	DLX6	PHYH	SVBP	SOX9	TBX5	KDM4B	PWRN1	MED12	GNB2	MIR140	PWAR1	GMNN	FKBP10	CNOT2	BRCA1	COL9A3	CSGALNACT1	PDE3A	RAC1	CDK10	TNNT3	ARHGAP31	SCARF2	P3H1	REV3L	GABBR2	CHST3	CENPE	B3GLCT	PIGT	CCDC22	ALDH18A1	AFF4	KRAS	PHF6	FTSJ1	KIFBP	POLA1	EP300	TPM2	IFT57	NTNG1	CASK	RSPO2	IHH	SIL1	HUWE1	COG4	EXT1	CLCN7	SMARCA2	GGCX	PIGP	BRF1	EDA	SNRPB	COL9A2	RPS7	CCNQ	FMR1	ACTL6B	HDAC6	CTNND2	RPS26	FANCD2	SLCO2A1	DLL4	ABCA12	HPGD	MIR17HG	LTBP2	SLC39A13	SEM1	FGF16	EXOC6B	POC1A	RAI1	RPL15	FAM50A	RPL11	CHRND	MRPS28	MAPRE2	RBBP8	RPL27	TRIM8	BGN	MACROH2A1	BTRC	AIFM1	FBXO11	SLX4	KIF5C	RPS10	NHS	NEPRO	COL3A1	CDH11	TUBB3	CHRNG	DYNC2I2	YY1AP1	PROP1	CCBE1	PIK3C2A	ZMYM2	TFAP2A	NELFA	HHAT	ADAMTSL2	LTBP3	KCNA1	B2M	NPAP1	PTCH2	ALMS1	CDC42BPB	GNPAT	ASPH	BCR	NIPBL	DYNC1H1	LHX4	SNIP1	TELO2	PLAG1	SNORD116-1	SUCLG1	RBM8A	TSR2	RAB33B	SMC3	FN1	EIF2AK3	PRIM1	KIF15	USP7	KIF22	IRX5	TWIST1	ADAMTS10	PKDCC	ARID2	RAB3GAP2	FRAS1	SATB2	PITX1	ANKRD11	INTU	MSL3	PGAP3	PIGL	CRIPT	FAT4	GRIN1	CRLF1	CHRNA1	MTOR	RPL35	NSDHL	COX4I1	DYNC2LI1	OFD1	PIGS	APC	CUL3	RAD51	PRKACA	KMT2A	PNKP
HP_APLASIA_HYPOPLASIA_OF_THE_PATELLA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_PATELLA	CDC6	LMBR1	SOX9	KAT6B	BHLHA9	CHRNG	STXBP1	PRMT7	LMX1B	CDC45	WNT7A	UBR7	ORC1	RECQL4	GMNN	TBX4	CDT1	FKBP10	RBM8A	ORC6	ARID1B	SHH	ORC4	GJB2	DONSON	GDF5	ANAPC1	PITX1	ESCO2	ZSWIM6	SHOX	GJB6
HP_ABNORMALITY_OF_LOWER_LIMB_EPIPHYSIS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_LOWER_LIMB_EPIPHYSIS_MORPHOLOGY	COL9A3	EXTL3	TRPV4	DVL1	COL2A1	POU1F1	CCN6	HS2ST1	ARSL	TREX1	TSHB	B3GALT6	UFSP2	SRCAP	COL9A2	LHX4	ACAN	GNPTG	ADAMTS2	MEG3	TG	GLB1	SRP54	DVL3	IFT140	FZD2	TSHR	NEK9	SBDS	DLK1	CREBBP	TBC1D2B	RSPRY1	WNT5A	ADAMTSL2	TONSL	COL1A2	PEX5	SLC39A13	COL11A2	FN1	EIF2AK3	EXT1	CHST3	COL9A1	RPL13	DNAJC21	TRPS1	KIF22	COMP	RINT1	MATN3	UNC45A	SLC5A5	CANT1	DYM	TINF2	IHH	CDC6	COL10A1	RAB3GAP2	TPO	HESX1	IYD	AIFM1	SIL1	COL1A1	PLOD3	RTL1	KIAA0586	EFL1	DUOXA2	TBX4	PCNT	HSPG2	SKIC3	CSPP1	LHX3	RET	BRF1	SMARCAL1	COL11A1	INPP5K	SLC26A2	RNU4ATAC	DUOX2	PROP1	SLC2A10	PIK3C2A	TRAPPC2	ATP7A	EP300
HP_APLASIA_HYPOPLASIA_OF_THE_RADIUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_RADIUS	LMBR1	TBX5	FLNB	FANCB	LRP4	GDF5	WNT7A	FANCA	UBE2T	NIPBL	RIPK4	MYH3	GLI3	SHOX	FANCD2	RPS19	SALL4	EIF4A3	RECQL4	FKBP10	RBM8A	BRCA1	DHCR7	RAD51C	SHH	TGFB1	FANCE	TNNT3	TBX3	SF3B4	DONSON	REV3L	FGFR2	FANCF	FANCI	RBM10	FANCC	FANCL	ESCO2	PLXND1	MMP9	RFWD3	IHH	PALB2	TNNI2	AFF4	ALG12	BRCA2	DHODH	IFT81	XRCC2	MACROH2A1	TPM2	CHN1	MMP13	FANCM	PRKAR1A	FGFR1	FGFR3	PITX1	SLX4	PDE4D	NALCN	RPL26	FGF10	ERCC4	NPR2	ZIC3	MAD2L2	CHD7	ATR	TRIP11	FANCG	APC	BRIP1	HOXD13	TRIO	CCNQ	RAD51	MAFB	ROR2
HP_APLASIA_HYPOPLASIA_INVOLVING_THE_CARPAL_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_CARPAL_BONES	COMP	GNPTAB	TRPV4	RBM8A	LMBR1	EXOC6B	NANS	XRCC2	SALL4	DYM	KIF22	WNT7A	RSPRY1	ALDH18A1	EIF2AK3	RECQL4
HP_APLASIA_HYPOPLASIA_INVOLVING_FOREARM_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_FOREARM_BONES	VPS35L	B2M	LMBR1	TBX5	FLNB	FANCB	LRP4	GDF5	WNT7A	BHLHA9	FANCA	UBE2T	NIPBL	CUL7	RIPK4	EXT2	MYH3	GLI3	SHOX	COL2A1	FANCD2	RPS19	SALL4	EIF4A3	RECQL4	NOG	FKBP10	RBM8A	BRCA1	DHCR7	RAD51C	SHH	TGFB1	FANCE	TNNT3	TBX3	SF3B4	DONSON	DYNC2H1	SCARF2	REV3L	FGFR2	FANCF	CHST3	FANCI	CCDC8	OBSL1	EXOC6B	RBM10	FANCC	FANCL	PIGT	ESCO2	PLXND1	MMP9	RFWD3	JAG1	IHH	PALB2	TNNI2	AFF4	BMPR1B	ALG12	BRCA2	DHODH	IFT81	XRCC2	MACROH2A1	TPM2	CHN1	MMP13	FANCM	PRKAR1A	FGFR1	FGFR3	PITX1	SLX4	PDE4D	NALCN	RPL26	FGF10	ERCC4	NPR2	ZIC3	EXT1	MAD2L2	CHD7	ATR	TRIP11	FANCG	APC	BRIP1	HOXD13	TRIO	CCNQ	RAD51	MAFB	ROR2
HP_ABNORMAL_LIMB_EPIPHYSIS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LIMB_EPIPHYSIS_MORPHOLOGY	COL9A3	EXTL3	NEK1	TRPV4	FLNB	DVL1	LETM1	IFT140	CPLX1	COL2A1	POU1F1	CCN6	HS2ST1	ARSL	TREX1	KCNH1	TSHB	TRIP11	GNPAT	B3GALT6	UFSP2	SRCAP	COL9A2	LHX4	ACAN	FGFR3	GPX4	GNPTG	ADAMTS2	MEG3	RAB23	IFT52	ERCC8	TG	GLB1	CTBP1	SRP54	COG4	PRKAR1A	NSD2	DVL3	SLC26A2	FZD2	SALL1	TSHR	NEK9	SBDS	DLK1	CREBBP	TBC1D2B	POR	GDF5	RSPRY1	WNT5A	FGFRL1	FLNA	ADAMTSL2	TONSL	COL1A2	PEX5	SLC39A13	COL11A2	FN1	EIF2AK3	EXT1	CHST3	COL9A1	RPL13	DNAJC21	KIF15	TRPS1	KIF22	COMP	RINT1	IHH	MATN3	UNC45A	SLC5A5	CANT1	DYM	TINF2	CDC6	COL10A1	MRPS28	RAB3GAP2	MIA3	TPO	NPR3	BGN	RPS6KA3	HESX1	IYD	AIFM1	SIL1	COL1A1	BMPR1B	MGP	PLOD3	RTL1	KIAA0586	NPR2	EFL1	DUOXA2	TBX4	RUNX2	PCNT	HSPG2	SKIC3	CSPP1	LHX3	RET	BRF1	IFT172	SMARCAL1	COL11A1	IFIH1	TRAPPC2	INPP5K	ATR	ERCC6	RNU4ATAC	DUOX2	PROP1	SLC2A10	PIK3C2A	NKX3-2	EVC2	RMRP	EVC	ATP7A	EP300
HP_APLASIA_HYPOPLASIA_OF_THE_HUMERUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_HUMERUS	ALG12	POLR3A	RBM8A	LMBR1	TBX5	AGPS	FLNB	IFT122	TBX3	PEX5	FANCB	FZD2	KIAA0753	GPC6	GNPAT	MYSM1	RNU4ATAC	GDF5	TNFRSF11B	SNRPB	SALL4	GSC	LONP1	FLNA	IHH	ZIC3	ATP7A	RECQL4	SUCLG1	NOG
HP_ABNORMALITY_OF_TIBIAL_EPIPHYSES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_TIBIAL_EPIPHYSES	RTL1	DLK1	MEG3	COL2A1	COL11A1
HP_CHRONIC_PULMONARY_OBSTRUCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_PULMONARY_OBSTRUCTION	THSD4	WIPF1	MCIDAS	ALMS1	GLA	SEC24C	GP1BB	NCF1	ARVCF	RSPH3	HLA-DPA1	PRTN3	MYH7	NFKB1	JMJD1C	RAC2	NCF2	HMOX1	CYBC1	RREB1	CYBA	CARMIL2	MMP1	DNAAF4	HIRA	MPEG1	RSPH9	TBX1	HLA-DPB1	RSPH1	PTPN22	CYBB	BLM	COMT	UFD1	CTLA4	NCF4	SERPINA1	WAS
HP_LARYNGEAL_STRIDOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARYNGEAL_STRIDOR	TAF1	UBE3B	BTD	ASAH1	BRF1	PLP1
HP_INTERSTITIAL_PNEUMONITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERSTITIAL_PNEUMONITIS	FOXP3	RAG1	DOCK2	TERT	IL2RB	TERC	ABCA3	SFTPC	HLA-DPB1	SFTPB	PLCG2	STAT3	STAT5B	SFTPA1	TINF2
HP_INTRAALVEOLAR_PHOSPHOLIPID_ACCUMULATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRAALVEOLAR_PHOSPHOLIPID_ACCUMULATION	SLC7A7	CSF2RB	ABCA3	SFTPC	SFTPB	MARS1	CSF2RA	HLA-DRB1	OAS1
HP_ALVEOLAR_CELL_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALVEOLAR_CELL_CARCINOMA	SFTPC	ERBB2	FASLG	TERT	PIK3CA	ERCC6	MUC5B	CASP8	SLC22A18	KRAS	SFTPA2	MAP3K8	EGFR	CYP2A6	IRF1	PRKN	PPP2R1B	BRAF
HP_PROGRESSIVE_PULMONARY_FUNCTION_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_PULMONARY_FUNCTION_IMPAIRMENT	PIK3CA	BAP1	TERT	SMARCB1	NF2	SMARCE1	AKT1	SMPD1	PDGFB	SLC34A2	SMO	TRAF7	SUFU
HP_PULMONARY_LYMPHANGIECTASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_LYMPHANGIECTASIA	FAT4	SOX18	FOXF1	CCBE1	ADAMTS3
HP_CHRONIC_LUNG_DISEASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_LUNG_DISEASE	DISP1	SHH	FOXH1	ITCH	FGFR1	ZIC2	FGF8	BLM	TDGF1	RIPK1	STIL	LRBA	CTCF	PLCH1	DLL1	GAS1	PTCH1	FOXE1	LAT	TGIF1	ZNF699	TGFB1	MINPP1	HABP2	NODAL	GLI2	CDON	STAG2	SMC1A	KIAA0586	SERPINH1	SFTPB	LRRC56	SIX3	CSPP1	CFTR	AFF4	PRIM1	PIGY	FCGR2A	PEPD
HP_ABNORMAL_PULMONARY_INTERSTITIAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PULMONARY_INTERSTITIAL_MORPHOLOGY	FOXP3	ZMYND10	PIK3CG	DNAJB13	TERT	HLA-DRB1	ITGA3	TERC	LRRC56	NHP2	CCN2	STXBP2	RTEL1	PARN	FAS	CSF2RA	SFTPB	GAS8	BNC1	DNAAF4	PSMC3IP	OFD1	RSPH3	RAG1	DOCK2	GATM	CCR6	NUP107	CYBC1	PLEC	MRPS22	DNAL1	CAV1	COL3A1	STK36	NR5A1	KIAA0319L	CSF2RB	ODAD4	SFTPA2	AP3D1	NSMCE3	NPC2	CFAP300	MUC5B	SFTPC	FARSB	STN1	THOC2	NDUFAF6	RASGRP1	SMPD1	FAM13A	MARS1	FAM111B	ATP11A	IL1RN	CCDC65	IL2RB	DNAAF3	RAC2	NOP10	HPS4	SPIDR	GBA1	FSHR	DNAAF1	IRF5	ODAD3	NHLRC2	SLC34A1	FOXJ1	CCDC40	SP110	NME8	UNC119	TINF2	AP3B1	ABCA3	SLC34A2	ODAD2	CTLA4	DNAI2	RCBTB1	DNAH1	DNAH5	SFTPA1	DNAH9	ZSWIM7	BTK	SPAG1	BTNL2	TTC12	DNAAF11	PRTN3	STING1	PRKCD	RPGR	PLCG2	RNF168	DNAI1	HLA-B	STAT3	STAT5B	DNAH11	CFAP221	RSPH4A	NKX2-1	CASP10	BACH2	NEK10	HPS1	HYDIN	HLA-DPB1	PAK2	SPEF2	CFAP298	RSPH1	ZNFX1	DSP	DPP9	FASLG	CCDC103	ERF	MCIDAS	CCNO	RSPH9	ZCCHC8	BMP15	POLR3H	IL2RA	GAS2L2	DNAAF2	HLA-DPA1	EHHADH	FARSA	DKC1	DNAAF6	COPA	DNAAF5	SCARB2	BMPR2	PTPN22	DRC1	CCDC39	EIF2AK4	ASAH1	ODAD1	TOM1	RPA1
HP_RECURRENT_PNEUMONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_PNEUMONIA	IGKC	IL2RG	KPTN	CD247	ERCC6	ALMS1	AASS	SREBF1	POLA1	NFKB1	TNFRSF13C	BLNK	NCF1	IL21R	ADA	LTBP4	DOCK8	TGFB1	CARMIL2	PURA	IFIH1	DOCK2	BTK	KCNJ6	IDH1	NBN	PIK3CD	WAS	CYBC1	LTBP1	FMO3	EXTL3	CCDC40	FBLN5	GNPTAB	PLOD1	WDR19	SETBP1	DRC1	ODAD2	FCHO1	CLPB	ALG12	DZIP1L	C4B	GAS8	EGFR	CYBB	CFTR	RAC1	TONSL	COL11A2	RAC2	SLC35C1	IL6ST	CCDC39	TNFRSF13B	ZBTB7A	STK36	SMARCA2	MASP2	UNC119	TBX1	TK2	NME5	AP3B1	VPS33A	TNFRSF11A	IGHM	DNAH11	CD3E	FCGR2A	ODAD1	ZNF341	LMNB1	LRBA	IDS	CD27	WDR1	CFAP410	ICOS	RNF168	C3	LAT	EFEMP2	PGM3	NFKB2	PKP1	NKX2-1	TBCD	STAT3	NCF2	HYDIN	SMARCD2	ZNFX1	RNF125	IGHG2	ARPC1B	WDR35	TCF3	IGBP1	DDR2	CD19	CYBA	GALNS	SFTPC	FBXW7	CXCR4	RNU4ATAC	CR2	ORC6	MED25	IGLL1	SIAH1	PKHD1	CD79B	CD3D	USB1	LEP	MTHFD1	B3GALT6	CAVIN1	P4HTM	JAK3	PEPD
HP_RECURRENT_INTRAPULMONARY_HEMORRHAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_INTRAPULMONARY_HEMORRHAGE	HLA-DPA1	PRTN3	WIPF1	CTLA4	HLA-DPB1	WAS	PTPN22	COL3A1
HP_AIRWAY_OBSTRUCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AIRWAY_OBSTRUCTION	DNASE1L3	ZMYND10	TBX20	WIPF1	DNAJB13	MCIDAS	ALMS1	SH3BP2	GATA6	MYH7	NFKB1	LRRC56	SCNN1G	CITED2	F12	IDS	SERPINA1	GAS8	DNAAF4	CARMIL2	OFD1	RSPH3	HIRA	KCNJ6	VPS33A	DNAL1	STK36	SLC9A3	KCNN4	ODAD4	CFAP300	TBX1	COL11A1	GLA	CLCA4	GP1BB	NCF1	ARVCF	CCDC65	DNAAF3	RAC2	NCF2	HMOX1	HLA-DRB1	RREB1	SLC26A9	CYBA	ZMPSTE24	DNAAF1	AHDC1	ODAD3	MPEG1	NFIX	FGFR3	KIF22	FOXJ1	CCDC40	NME8	RSPH1	CEACAM6	CYBB	SLC6A14	DNAH11	ZSWIM6	BLM	COMT	ODAD2	CTLA4	DNAI2	DNAH1	DNAH5	DNAH9	XPNPEP2	GSTM3	GNE	SPAG1	TLL1	SEC24C	TTC12	DNAAF11	PRTN3	MYH6	RPGR	DNAI1	CYBC1	CFAP221	RSPH4A	MGP	GCLC	NEK10	RSPH9	APC	HYDIN	HLA-DPB1	SCNN1A	NKX2-5	SPEF2	CFAP298	SCNN1B	DDRGK1	ACTC1	POR	DCTN4	WAS	CCDC103	CFTR	THSD4	CCNO	HFE	GUSB	TGFB1	GAS2L2	EDNRA	DNAAF2	HLA-DPA1	JMJD1C	DNAAF6	SLC11A1	DNAAF5	SOX9	MMP1	CEACAM3	FGFR2	PTPN22	STX1A	DRC1	BTNL2	CCDC39	ENG	MIF	ODAD1	UFD1	GATA4	LMNA	NCF4
HP_RECURRENT_BRONCHOPULMONARY_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_BRONCHOPULMONARY_INFECTIONS	TGFB1	CARS1	ERCC3	ERCC2	CFTR	TARS1	RNF113A	LAMTOR2	USB1	GTF2H5	VPS33A	FCGR2A	GTF2E2	MPLKIP
HP_CARDIORESPIRATORY_ARREST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIORESPIRATORY_ARREST	GPX4	TXNDC15	KIT	DDC	TSPYL1	LAMP2	B3GALT6	SLC25A20	MYL2	EXOC6B	SLC2A10	COL2A1
HP_UNILATERAL_PRIMARY_PULMONARY_DYSGENESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNILATERAL_PRIMARY_PULMONARY_DYSGENESIS	TBX1	ESS2	DGCR6	DGCR2	DGCR8
HP_ACUTE_HEPATIC_FAILURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_HEPATIC_FAILURE	PORCN	CYC1	SEMA4D	GPR35	KRT18	CALR	IL18BP	FAH	F5	MST1	ACAD9	HLA-B	ITCH	CACNA1S	RYR1	LIPA	MEFV	JAK2	ATP7B	TCF4	SCYL1	LARS1	HADH	RINT1	TRMU	IKZF1	XIAP	SH2D1A	ZNFX1	GFM1	MPV17	EIF2AK3	NBAS
HP_POLYCYSTIC_LIVER_DISEASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYCYSTIC_LIVER_DISEASE	IFT140	ALG9	DNAJB11	GANAB	PKD2	ALG5	PRKCSH	PKD1	SEC63	BICC1	LRP5
HP_LIPID_ACCUMULATION_IN_HEPATOCYTES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIPID_ACCUMULATION_IN_HEPATOCYTES	CIDEC	CBS	SLC40A1	BLM	IARS1	YARS1	ACAD9	LDLRAP1	LMNA	CARS2	LIPA	SAR1B	CPT2	FOS	CASZ1	LMNB2	ETFA	PHKA2	DOCK2	POLG	ACADS	SPEN	ATP6AP2	TKFC	SLC25A20	IFIH1	SKI	HSPG2	POLD1	HMGCL	SCO1	ATP7B	PMM2	HADH	TFAM	ADK	BCS1L	RINT1	VPS33A	CYP19A1	HNF1B	ACADM	POLR3A	LRPPRC	PLIN1	ALMS1	VPS4A	MTX2	HSD17B4	SLC25A13	NGLY1	PNPLA2	DHCR7	EARS2	PPARG	PRDM16	RMND1	LUZP1	FBP1	MCCC1	HNRNPA2B1	PCK2	ABHD5	RNU7-1	ALDOB	PDPN	ETFB	COA8	SLC37A4	FARSA	LYRM4	KCNAB2	MARS1	MTTP	CEP19	LARS1	MRPS7	CAVIN1	TARS2	TRAPPC11	NDUFAF1	CYP7A1	SPTBN1	PTRH2	RERE	GABRD	DNAJC19	MPV17	GNB2	BSCL2	PDE8B	TYMP	DDOST	PRKCZ	LDLR	CLPB	LIPE	TMEM199	SUCLG1	PRKAR1A	FARSB	RRM2B	PDE11A	APOE	FOCAD	MRPL44	NSMCE2	LIG3	APOB	XRCC4	HNRNPA1	NHLRC2	NFS1	TBX1	UNC45A	MMP23B	CPT1A	KMT2B	MRPL3	DPM1	AKT2	ATP6AP1	DGUOK	VCP	AGPAT2	MICOS13	ABCG5	SURF1	PRKACA	ETFDH	CAV1	UBE4B	ABCG8	NAA10	MT-TN	PIGA	DEF6	ACADVL	HADHB	GPD1	PHKG2	ARMC5	SLC22A5	ZPR1	HADHA	AKR1D1	PGM1	ACOX1	GNAS	TRMU	PCSK9	COX15	PCK1
HP_VIRAL_HEPATITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VIRAL_HEPATITIS	IGKC	BTK	CTNNB1	MET	APC	IGF2R	AXIN1	RFXANK	PIK3CA	CASP8	RFXAP	TP53	RFX5	PDGFRL	IGHG2	CIITA
HP_MALFORMATION_OF_THE_HEPATIC_DUCTAL_PLATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALFORMATION_OF_THE_HEPATIC_DUCTAL_PLATE	NEK8	ZFYVE19	B9D2	DCDC2	TMEM67	IFT122	MKS1	NPHP3
HP_INCREASED_HEPATIC_GLYCOGEN_CONTENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_HEPATIC_GLYCOGEN_CONTENT	SLC37A4	HNF4A	PYGL	PHKB	SLC2A2	AKT2	PHKG2	FARS2	PGM1	SDHA	FOCAD
HP_SUBACUTE_PROGRESSIVE_VIRAL_HEPATITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBACUTE_PROGRESSIVE_VIRAL_HEPATITIS	TP53	PDGFRL	CTNNB1	MET	APC	IGF2R	AXIN1	PIK3CA	CASP8
HP_PROLONGED_NEONATAL_JAUNDICE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLONGED_NEONATAL_JAUNDICE	GALK1	TPO	CASK	ATP6AP1	POU1F1	YARS1	CTCF	HESX1	CYP27A1	PKLR	IYD	SLC16A2	NSD1	TSHB	KMT2E	DUOX2	RNASEH2A	LHX4	SLC44A1	EPB41	NPC1	TTC26	RNASEH2C	PRPS1	G6PD	RNU7-1	IFIH1	TG	SETD2	TBX19	TREX1	GALM	MPV17	AMACR	HYOU1	SAMHD1	DUOXA2	ADAR	NPC2	CPOX	TSHR	SPOP	APC2	CCDC115	GYPC	SMPD1	ADAMTS13	LHX3	UGT1A1	TRHR	SPTA1	CDAN1	TPI1	MED12	AKR1D1	RNU4ATAC	PROP1	ATP7A	PEX10	PEX1	SLC37A4	LSM11	ARL13B	UNC45A	SLC5A5	GH1	SLC51B	JAG1	SLC10A1	SPTB	RNASEH2B	PARS2	PEPD
HP_PORTAL_FIBROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PORTAL_FIBROSIS	PHKA2	PHKG2	DCDC2	ABCB4	ADK	CEP83	UNC45A	RPGRIP1L	CC2D2A	ARG1	ABCD3	WDR35	PYGL	ATP7B	MYO5B
HP_DIAPHRAGMATIC_PARALYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIAPHRAGMATIC_PARALYSIS	GAA	IGHMBP2	TPI1	REEP1	MEGF10	MORC2	BAG3
HP_WIDE_INTERMAMILLARY_DISTANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDE_INTERMAMILLARY_DISTANCE	PIGN	ERCC6	GATA4	ABCD4	NSD2	ERMARD	GPC4	CHD7	RIPK4	NRAS	GNB2	RAB18	IDH1	BRAF	IGF1R	MEG3	FRAS1	PTPN11	CBL	HNRNPK	GNPTAB	INTU	AMMECR1	RRAS2	ARHGEF2	MEGF8	SPRY4	SOS2	TOGARAM1	DHCR7	DLK1	PACS1	EXOC2	COX7B	SMARCA2	MADD	IBA57	SMS	ALG9	CDH11	TBL1XR1	ALG14	COG1	TTC5	SPRED2	NSMF	CPT2	CHST3	HDAC4	ASH1L	KAT6A	RRAS	MRAS	SMPD4	TMEM94	KISS1	B3GLCT	WDR37	RIT1	CDK13	CERT1	RASA2	LAMA5	NUP188	FREM2	RAF1	ASXL1	MAP2K1	GNRH1	HS6ST1	KIFBP	LZTR1	MAPRE2	PSAT1	TRAF7	WASF1	GRIP1	UBE2A	PROK2	DUSP6	ZC4H2	KNSTRN	PIK3CD	RTL1	KIAA0586	ARCN1	FGF8	WDR11	EED	KATNB1	NF1	GPC3	FGFR1	KISS1R	LBR	TMCO1	CSPP1	KRAS	WLS	TACR3	NECTIN1	FGF17	SOS1	TAC3	MAB21L1	OFD1	GNRHR	CILK1	PROKR2	TP63	TUBB	KANSL1	TFAP2A	AMER1	ADNP	TIMM50	ZNF148	PPP1CB	SRY
HP_ABSENT_STERNAL_OSSIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_STERNAL_OSSIFICATION	SOX9	ORC1	VAC14	FIG4	ORC6
HP_MULTIPLE_RIB_FRACTURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_RIB_FRACTURES	TNFRSF11A	TRIP11	TAPT1	CRTAP	CREB3L1
HP_THORACIC_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACIC_DYSPLASIA	DYNC2I1	DYNC2I2	NEK1	WDR19	IFT172	WDR35
HP_THIN_CLAVICLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIN_CLAVICLES	ZMPSTE24	HHAT	TBCE	PCNT	LMNA	COL11A1
HP_RIB_SEGMENTATION_ABNORMALITIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIB_SEGMENTATION_ABNORMALITIES	CPLX1	LETM1	DLL3	FGFRL1	HES7	CTBP1	NELFA	MESP2	RIPPLY2	NSD2	PIGG	LFNG
HP_APLASTIC_CLAVICLE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASTIC_CLAVICLE	CDC6	ORC6	PTDSS1	RNU4ATAC	CDC45	ORC1	FIG4	GMNN	PTH1R	PIGL	CTSK	KIAA0586	SALL4	ORC4	RUNX2	CDT1	ATP7A
HP_IMPAIRED_MYOCARDIAL_CONTRACTILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_MYOCARDIAL_CONTRACTILITY	ABCC9	ALPK3	JUP	DSP	CSRP3
HP_REDUCED_SYSTOLIC_FUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_SYSTOLIC_FUNCTION	ALPK3	MYPN	DES	JUP	TPM2	SCN5A	PLN	CSRP3	ABCC9	LIMS2	TPM3	TKFC	SGCD	DSP	RYR2	JPH2	TRDN	CASQ2
HP_PREMATURE_VENTRICULAR_CONTRACTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_VENTRICULAR_CONTRACTION	CALM2	DOHH	CDH2	TRDN	KCNE1	SCN5A	KCNJ2	CNBP	CACNA1S	JUP	TOR1AIP1	RYR1	RYR2	PKP2	KCNJ5	DPP6	TECRL	NAA10	NFIX	TNNI3K	DSG2	TMEM43	CALM1	DSP	SLC25A20	CASQ2
HP_ENDOCARDIAL_FIBROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENDOCARDIAL_FIBROSIS	MYL3	ACTN2	PDGFRA	LDB3	VCL	SP110
HP_AORTIC_TORTUOSITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AORTIC_TORTUOSITY	IPO8	SLC2A10	TGFB2	MFAP5	SMAD3
HP_ATRIOVENTRICULAR_CANAL_DEFECT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATRIOVENTRICULAR_CANAL_DEFECT	VPS35L	CCDC22	CFC1	LZTR1	NEK1	TBX1	GJA1	DYNC2LI1	GATA4	ACVR2B	KDM6A	FANCB	FOXF1	NKX2-5	HYLS1	ERCC4	GDF1	TTC26	CDC45	DEF6	LONP1	INTU	DNAH9	GATA6	ZIC3	BRAF	EVC2	KAT6B	CRELD1	GATA1	DOHH	RBM8A	DHCR7	WASHC5	GLI3	RAF1	NR2F2	PUF60	CFAP45	TBX5	NKX2-6	CIROP	CCDC32	GLI1	SMAD2	MMP21	PRKD1	SUPT16H	WDPCP	CDH2	PKD1L1	PTPN11	TRIO	CFAP53	PRKACB	IRX5	NODAL	EVC	PRKACA
HP_DILATATION_OF_THE_VENTRICULAR_CAVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DILATATION_OF_THE_VENTRICULAR_CAVITY	PKP2	ALDH18A1	GMPPB	RYR2	ELN	LTBP1	FOCAD	NDE1	FBLN5	RPL10	NPPA	EFEMP2
HP_PREMATURE_ATRIAL_CONTRACTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_ATRIAL_CONTRACTIONS	TTN	NAA10	CITED2	GJA5	KCNA5	SCN5A	KCNE2
HP_APLASIA_HYPOPLASIA_OF_THE_LUNGS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_LUNGS	PIGN	PLXND1	CHRNG	KAT6B	HSPG2	WDR19	GLE1	RARB	FGF20	TRIP11	LBR	LTBP4	MYOD1	LMNA	ETFA	ADGRG6	MEG3	DYNC2I1	GPKOW	FRAS1	CHRM3	TRIP4	LMOD3	KLHL40	WDR35	DZIP1L	NSD2	WNT3	SPECC1L	COQ7	DHCR7	MYRF	TCTN3	GREB1L	AGT	TAPT1	LONP1	ZMPSTE24	AARS2	TTC21B	IFT80	FGFR3	TMEM94	CPLX1	PEX1	SLC26A2	MUSK	FREM2	WT1	NPHP3	DPAGT1	TUBA1A	CHRND	GFRA1	ZFPM2	DYNC2I2	IFT172	FANCB	VANGL1	DYNC2H1	IFT81	TXNDC15	WNT4	FAM20C	LETM1	NUP88	BCOR	NEK8	MKS1	NEB	PTH1R	NKX2-6	RYR1	FLNB	CC2D2A	COL2A1	PORCN	ETFB	ALG3	BMPER	PIGG	NEK9	PRRX1	ALDH1A2	PHGDH	CEP55	PI4KA	CEP120	STRA6	NELFA	RBM10	AGTR1	MYH11	DYNC2LI1	RET	MKKS	CDC45	NAA10	ACTA1	REN	INTU	SETBP1	EVC2	KLHL41	DLK1	CSPP1	DONSON	RSPO2	KIAA0586	SF3B2	GLI1	NEK1	ATP5F1A	WNT9B	SMO	ITGA8	GATA6	SLC25A24	B3GALT6	LGI4	PKHD1	FLNA	FUZ	DOK7	SON	GRIP1	LIFR	ETFDH	IFT140	MCTP2	NDUFB10	RTL1	SLC18A3	ALG9	ZIC3	RLIM	CHRNA1	NSDHL	ACE	PIEZO2	MYH3	GLDN	RAPSN	ASCC1	HOXD13	TRPV4	CTBP1	GBA1	EVC	PRKACA	INVS	PRKACB
HP_ABNORMAL_CORONARY_ARTERY_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CORONARY_ARTERY_MORPHOLOGY	TGFB3	PPP1R17	PLXND1	LZTR1	ABCC6	NADSYN1	LMNA	LOX	GHR	ABCG5	CYP27A1	FOXE3	ESR1	TKT	LDLRAP1	ABCA1	HGD	MYLK	ABCG8	TGFBR1	ERCC8	APOA1	NT5E	ANAPC7	GLB1	MYH11	MFAP5	TGFB2	ERCC6	PPARG	NKX2-6	ACTA2	LDLR	ELN	BRCC3	XYLT1	HEY2	PPFIBP1	PRKG1	ENPP1	SMPD1	CELA2A	EPHX2	SMAD2	MAT2A	APOE	MLXIPL	FBN1	APOB	CIROP	LIPC	CEP19	DYRK1B	LMX1B	APOA2	XYLT2	SERPIND1	YY1AP1	PNPLA2	PCSK9	SMAD4	LRP6	GPIHBP1	TGFBR2	CYP7A1	SMAD3	ZNF687
HP_ABNORMAL_ATRIOVENTRICULAR_VALVE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ATRIOVENTRICULAR_VALVE_MORPHOLOGY	TBX20	CBS	DZIP1	VPS37D	COL2A1	SACS	PRDM5	COL3A1	CITED2	NF1	PKD2	IDS	GJA1	FBN1	TNXB	JPH2	IPO8	MAP3K7	NDUFB11	TPM2	BCOR	EXTL3	FLNA	KRAS	PLOD1	METTL27	ENPP1	ELN	XYLT1	TBX1	MYRF	COX7B	GP1BB	FMN2	ATP6V1E1	HCCS	ZIC3	MMP2	GTF2IRD1	XYLT2	RREB1	MMP21	SKI	TMEM94	LZTR1	FBN2	MAPK1	SLC34A2	PKD1	MYCN	NKX2-5	CREBBP	BCL7B	NPR3	MLXIPL	MTX2	TLL1	COL1A1	MYH7	VPS13B	RPS6KA3	TTN	NCF1	VWF	ABCC6	YY1	HGD	BRF1	PRG4	DCHS1	TGFB2	SH3PXD2B	GATA6	FKBP6	ACTC1	HRAS	RFC2	TBL2	GATA1	RPL5	TAB2	ZNF469	RAF1	GTF2I	CHD7	IFIH1	MMP14	MED12	GBA1	CLIP2	FMR1	AEBP1	SLC6A6	ROR2	GATA4	LMNA	STX1A	SPRED1	DNAJC30	MYPN	FIBP	PCGF2	LTBP3	FOXF1	FREM1	COL5A2	GNB2	HIRA	BRAF	DSE	GANAB	PLD1	SPRED2	SELENON	SMAD4	WASHC5	ARVCF	FGFR1	CHST3	MFAP5	POLG	AGGF1	ZMPSTE24	BUD23	HNRNPH2	COMT	ALG5	BAZ1B	CCDC22	RYR1	GNPTAB	DNAJB11	EP300	SEC24C	CHST14	HCN4	MYH6	SMAD3	EIF4H	B3GALT6	NOTCH1	GTF2IRD2	LIMK1	TPM1	MCTP2	ANK1	NXN	SLC29A3	TMEM270	TWNK	COL1A2	BICC1	CLIC2	JMJD1C	NONO	B3GAT3	TGFBR2	IFT140	COL5A1	PTPN11	CCNQ	ALG9	HEXB	TPM3	UFD1	TGFBR1	TMEM260
HP_CYSTIC_LIVER_DISEASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CYSTIC_LIVER_DISEASE	CSPP1	GANAB	EXTL3	DNAJB11	IFT122	RPGRIP1	PKD2	CEP290	WDR19	TXNDC15	B9D2	NEK8	TCTN2	TSC2	TCTN3	TMEM107	OFD1	TMEM237	TMEM216	CC2D2A	NPHP3	TMEM67	SEC63	BICC1	JAK1	LRP5	ALG8	TTC21B	B9D1	IFT140	ALG9	IFNG	TSC1	PKD1	MKS1	PRKCSH	TCTN1	ALG5	TMEM231	PKHD1	RPGRIP1L
HP_ABNORMALITY_OF_THE_HEPATIC_VASCULATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_HEPATIC_VASCULATURE	EOGT	SOX10	POU2AF1	ITCH	ALMS1	BMP6	F5	TREX1	DCDC2	NEUROG3	TET2	LIPA	JAK2	KRIT1	STN1	GNB2	TMEM67	TJP2	HFE	INPP5E	DLL4	FLT1	PKHD1	ELN	DZIP1L	ASXL1	SHPK	ACVRL1	FARSB	SPIB	SMAD4	RBPJ	ARHGAP31	GDF2	KIF12	MPL	PRIM1	HLA-DRB1	DOCK6	TCF4	GLIS3	SP110	IRF5	GIMAP5	MPI	CORIN	GPR35	DGUOK	CALR	MST1	SLC30A10	NOTCH1	RPGRIP1L	CLDN1	MMEL1	ABCD3	GBE1	TTC26	ZFYVE19	NPHP3	CBL	ADA2	IL12RB1	STOX1	RECQL4	RNU7-1	RUNX1	SEMA4D	PIGM	MED12	ENG	TNPO3	IL12A	MLXIPL	ACTG2	SRSF2	TNFSF15	CC2D2A	BTNL2	TULP3
HP_APLASIA_HYPOPLASIA_OF_THE_NIPPLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_NIPPLES	BRD4	CCDC22	PIGN	RAD21	TWIST2	IKBKG	SETBP1	CHRNG	TP63	NIPBL	LETM1	TBX3	FIG4	GNE	KCTD1	MEG3	UBR1	USP9X	PIGL	RTL1	MEGF8	NSD2	EDARADD	HDAC8	DLK1	KRT10	WASHC5	CDH11	EFNB1	RSPO2	CCDC47	PIGG	SMC3	EDA	WNT3	KIF15	ALG9	CPLX1	ANTXR1	SMC1A	PTPRF	TUBB	MGAT2	PORCN	NELFA	KDM6B	WNT7A	SLC25A24	CTBP1	VAC14
HP_APLASIA_HYPOPLASIA_OF_THE_CLAVICLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_CLAVICLES	IDUA	CDC6	TBX5	DYNC2LI1	LMNA	MSX2	BGN	CDC42BPB	SRCAP	FIG4	RSPO2	FGFR2	BMPR1A	BCOR	XYLT1	ZMPSTE24	RNU4ATAC	CDC45	NAA10	ORC1	RNU12	SALL4	PTH1R	PIGL	ALX4	FLNA	FBXL3	HOXD13	FAT4	RUNX2	CDT1	ATP7A	PORCN	ORC6	TBX3	EFNB1	SCARF2	KIAA0586	NSDHL	TRIP11	B4GALT7	DCHS1	PTDSS1	PTEN	CHD4	GMNN	LEMD2	CTSK	WNT7A	ORC4	VAC14	TWIST1	MTX2
HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_THORAX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_BONES_OF_THE_THORAX	IFT122	HSPG2	CUL7	IFT43	B3GALT6	LMNA	GPC4	LBR	KYNU	CASZ1	COL11A1	ZMPSTE24	MEG3	RNU4ATAC	ORC1	DYNC2I1	WASHC5	B4GAT1	RNU12	GNPTAB	SPEN	FBXL3	HOXD13	IFT140	CDT1	WDR35	COL11A2	SKI	UBA1	DYNLT2B	TRPV4	SLC26A2	ORC6	ARID1B	TBX3	DYNC2H1	EFNB1	TAPT1	B4GALT7	TMEM231	IFT80	FGFR3	BMP2	RBM10	CHD4	HNRNPR	LEMD2	DYM	LAMA5	IHH	WNT7A	ORC4	MTX2	FLNA	PAICS	ALPL	ALG12	CDC6	VANGL1	DDRGK1	IFT81	BGN	PLCB3	FGFR1	PSMB8	BCOR	LMX1B	HES7	PRDM16	SCUBE3	LUZP1	PTPN11	TRPV6	NALCN	PTH1R	C2CD3	ALX4	KIAA0586	ACTB	RUNX2	KMT2A	LRP2	SLC35D1	PCNT	COL2A1	PTCH1	CSPP1	PORCN	RRAS2	PDPN	IFT172	DYNC2I2	SUFU	BMPER	ATR	KCNAB2	ATP6V1B2	ALDH1A2	NKX3-2	EVC2	FIG4	GMNN	CEP120	EVC	XYLT1	ROR2	IDUA	SOX9	TBC1D24	TBX5	PTCH2	PCGF2	INPPL1	SETBP1	CDC42BPB	CENPJ	TBX6	RERE	ERMARD	FBN1	NIPBL	GABRD	SRCAP	RIPK4	FGFR2	BMPR1A	GPX4	RPS19	NAA10	GSC	SALL4	PRKCZ	INTU	HDAC6	DNMT3A	ATP7A	NOG	DLK1	POR	CEP152	SOX2	CHST3	TOR1A	SCARF2	PRIM1	WNT3	TBX15	DCHS1	NFIX	PTEN	NEK1	SMO	FLNB	SF3B4	MMP23B	CTSK	VAC14	TWIST1	CPLANE1	CCDC22	MYF5	FRAS1	FUZ	DYNC2LI1	MSX2	SIX6	FLI1	RSPO2	UBE4B	CDC45	NFASC	PIGL	RTL1	FAT4	GPC3	PAM16	DDR2	EZH2	NSDHL	B3GAT3	TRIP11	PUF60	PTDSS1	SNRPB	TBCK	BUB1B
HP_APLASIA_HYPOPLASIA_OF_THE_RIBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_RIBS	SOX9	TBC1D24	PTCH2	PTH1R	IFT122	HSPG2	INPPL1	SETBP1	CUL7	CENPJ	TBX6	IFT43	RERE	ERMARD	COL2A1	FBN1	B3GALT6	GPC4	LBR	GABRD	KYNU	SRCAP	FIG4	CASZ1	COL11A1	GPX4	RPS19	MEG3	DYNC2I1	WASHC5	B4GAT1	RNU12	PRKCZ	SPEN	INTU	HDAC6	DNMT3A	IFT140	WDR35	COL11A2	SKI	UBA1	DYNLT2B	TRPV4	SLC26A2	DLK1	BMPER	CEP152	SOX2	CHST3	DYNC2H1	TOR1A	SCARF2	KIAA0586	ORC1	TAPT1	PRIM1	WNT3	GNPTAB	IFT80	FGFR3	NEK1	BMP2	SMO	FLNB	HNRNPR	SF3B4	MMP23B	LAMA5	IHH	VAC14	FLNA	PAICS	ALPL	CPLANE1	ALG12	CCDC22	MYF5	VANGL1	FUZ	DYNC2LI1	DDRGK1	IFT81	PLCB3	SIX6	FLI1	UBE4B	LMX1B	HES7	PRDM16	SCUBE3	LUZP1	PTPN11	TRPV6	NALCN	C2CD3	NFASC	RTL1	GPC3	RUNX2	KMT2A	SLC35D1	PAM16	PTCH1	CSPP1	PORCN	DDR2	EZH2	RRAS2	PDPN	IFT172	DYNC2I2	NSDHL	SUFU	ATR	B3GAT3	TRIP11	PUF60	RNU4ATAC	KCNAB2	ORC6	ATP6V1B2	SNRPB	ALDH1A2	NKX3-2	EVC2	CEP120	EVC	TBCK	RSPO2	ROR2
HP_APLASIA_HYPOPLASIA_OF_THE_SCAPULAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_SCAPULAE	SOX9	DLK1	COL11A1	POR	INPPL1	TBX3	SCARF2	NSDHL	RUNX2	TRIP11	RIPK4	FGFR1	FIG4	PSMB8	RSPO2	TBX15	ACTB	SLC35D1	MEG3	FGFR3	GSC	WDR35	GNPTAB	DYM	FLNA	RTL1	COL2A1	VAC14	PCNT	COL11A2
HP_APLASIA_HYPOPLASIA_OF_THE_STERNUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_STERNUM	SOX9	NFIX	ARID1B	PCGF2	FRAS1	RBM10	FIG4	SETBP1	LAMA5	ORC1	GPC4	NIPBL	VAC14	GPC3	BUB1B	LRP2	ORC6	TMEM231	NOG
HP_HEREDITARY_NONPOLYPOSIS_COLORECTAL_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEREDITARY_NONPOLYPOSIS_COLORECTAL_CARCINOMA	BRAF	PDGFRL	TGFBR2	AKT1	AURKA	BUB1	DCC	PTPN12	MCC	CHEK2	TP53	MLH3	APC	SRC	FLCN	TLR2	RAD54B	NRAS	PTPRJ	CCND1	MSH6	PIK3CA	BUB1B	FGFR3	PLA2G2A	DLC1	PMS2	EPCAM	EP300	BAX	AXIN2	CTNNB1
HP_ACUTE_LYMPHOBLASTIC_LEUKEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_LYMPHOBLASTIC_LEUKEMIA	ELANE	DUT	NSUN2	GFI1	BUB3	NSD1	TRIP13	ATM	CEP57	IKZF1	LIG4	TP53	GNB1	CHEK2	BCR	BUB1B	CLPB	NBN	HAX1	ABL1	MDM2	BAX	TAL2	NUP214	TCIRG1	BRCA2	SETD2	TAL1	CDKN2A	SRP54	PIGL	BLM	MSH2	BUB1	FLT3	APC2	TCF3
HP_INTESTINAL_CARCINOID	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTESTINAL_CARCINOID	CDKN2C	SDHD	CDKN2B	CDKN1B	MEN1	CDKN1A
HP_PANCREATIC_ADENOCARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATIC_ADENOCARCINOMA	PMS1	RABL3	RNF43	CTRC	TGFBR2	MSH2	CDC73	PMS2	SMAD4	STK11	PALB2	FAN1	MLH1	BRCA1	PALLD	SPINK1	BRCA2	AAGAB	CDKN2A	MSH6	NTHL1	EPCAM	BMPR1A	RPS20	KRAS	COL14A1	SEMA4A	TP53	MLH3	PIK3CA
HP_FOLLICULAR_THYROID_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOLLICULAR_THYROID_CARCINOMA	PTEN	PRKAR1A	NRAS	MINPP1	HABP2	KLLN	SRGAP1	PIK3CA	SDHD	SDHB	PDE11A	AKT1	HRAS	SDHC	FOXE1	USF3	SEC23B
HP_SQUAMOUS_CELL_CARCINOMA_OF_THE_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SQUAMOUS_CELL_CARCINOMA_OF_THE_SKIN	RSPO1	DDB2	ERCC4	TMC8	TERT	TYR	ERCC5	ERCC2	SMARCAD1	ERCC3	TYMS	KRT14	TERC	IL7	MC1R	XPC	KRT5	OCA2	LMNA	TINF2
HP_ADRENOCORTICAL_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADRENOCORTICAL_CARCINOMA	IGF2	MEN1	APC	ZNRF3	TP53	PRKAR1A	CHEK2	MDM2	TERT	KCNQ1OT1	CDKN2A	CDKN2C	CDKN1C	KCNQ1	CDKN2B	CTNNB1	CDKN1B	CDKN1A
HP_GANGLIONEUROBLASTOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GANGLIONEUROBLASTOMA	PHOX2B	EDN3	BDNF	GDNF	KIF1B	MYO1H
HP_NEOPLASM_OF_THE_STOMACH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_STOMACH	PTCH2	BRAF	BUB3	SDHA	CASP10	CEP57	SMAD4	APC	RAD54B	NRAS	BMPR1A	CDKN2A	MSH3	ERBB2	TERT	PIK3CA	MGMT	MSH2	MSH6	PTPN12	STK11	MCC	TERF2IP	CDH1	TP53	BUB1B	AAGAB	MDM2	AXIN2	RPS20	FGFR3	MLH3	BLM	ACD	ENG	KIT	MITF	MUTYH	MC1R	FGFR2	SDHB	CDKN2B	KLF6	AKT1	AURKA	BUB1	DCC	TRIP13	KRAS	CHEK2	SRC	FLCN	PDGFRA	TLR2	PTPRJ	CCND1	CDK4	COL14A1	SEMA4A	TREX1	DLC1	BCL10	PTCH1	CTNNB1	BAP1	IL1B	PDGFRL	MLH1	SDHC	PDE11A	SUFU	POT1	PRKAR1A	IL1RN	PLA2G2A	IRF1	EP300	BAX
HP_MALIGNANT_GENITOURINARY_TRACT_TUMOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALIGNANT_GENITOURINARY_TRACT_TUMOR	RPS29	RPS20	MLH1	RPS27	RPL27	MSH2	MSH6	TSR2	RPL35A	ADA2	RPL35	RPS28	RPS26	RPL26	RPS19	RPL15	RPS17	RPS7	RPL18	RPS24	RPL11	GATA1	BLM	RPL31	RPS10	RPS15A	RPL5
HP_CHONDROSARCOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHONDROSARCOMA	IDH2	PTH1R	IDH1	NR4A3	EXT1	TAF15	EXT2
HP_PAPILLARY_RENAL_CELL_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAPILLARY_RENAL_CELL_CARCINOMA	PRCC	MINPP1	CDC73	HABP2	FOXE1	LMNA	MET	FH
HP_PITUITARY_PROLACTIN_CELL_ADENOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PITUITARY_PROLACTIN_CELL_ADENOMA	MEN1	GPR101	AIP	CDKN2C	CDKN1B	CDKN2B	YY1	CDKN1A
HP_DUODENAL_ADENOCARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUODENAL_ADENOCARCINOMA	MSH2	MLH1	GREM1	BMPR1A	NTHL1	APC	SMAD4
HP_RENAL_ANGIOMYOLIPOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_ANGIOMYOLIPOMA	TSC1	IFNG	CDKN1B	TSC2	MVK
HP_OVARIAN_PAPILLARY_ADENOCARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVARIAN_PAPILLARY_ADENOCARCINOMA	ERBB2	CTNNB1	AKT1	PRKN	CDH1	PIK3CA	OPCML
HP_MULTIPLE_MYELOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_MYELOMA	SRSF2	CCND1	TET2	ASXL1	LIG4	GBA1	KIT
HP_ALVEOLAR_RHABDOMYOSARCOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALVEOLAR_RHABDOMYOSARCOMA	DICER1	KEAP1	FOXO1	PAX7	PAX3
HP_PARATHYROID_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARATHYROID_CARCINOMA	CDKN2C	CDKN1B	CDKN2B	GCM2	CDC73	MEN1	CDKN1A
HP_POSTERIOR_PHARYNGEAL_CLEFT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_PHARYNGEAL_CLEFT	IRF2BP2	NFKB1	CR2	NFKB2	TNFSF12	CD19	PRKCD	TNFRSF13B	MID1	MS4A1	CD81	ICOS	TNFRSF13C
HP_LIMB_GIRDLE_MUSCULAR_DYSTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_GIRDLE_MUSCULAR_DYSTROPHY	LMNA	TRAPPC11	DAG1	CRPPA	ACTA1	POMT2	HNRNPDL	EMD	FHL1	SYNE1	TMEM43	SYNE2	ANO5	SGCA	DPM3	HNRNPA1
HP_BASAL_GANGLIA_CYSTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BASAL_GANGLIA_CYSTS	PDHA1	MT-ATP6	GFM1	NUP62	CPT2	ADAR	LONP1
HP_HYPERACTIVE_DEEP_TENDON_REFLEXES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERACTIVE_DEEP_TENDON_REFLEXES	GALC	SDHD	BEAN1	PRRT2	TANGO2	PRSS12	MAB21L1	SDHAF1	SAMD9L	SLC2A1	GJA1	PMP22	ATXN2	ATP6AP2	DNM1L	OFD1	SDHA	STUB1	ATXN1	PRPS1	MRE11	TIMM8A	MECP2	UROC1	SDHB	C19orf12	SMG9	PRNP	KCNC3
HP_ABNORMAL_ANTERIOR_HORN_CELL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ANTERIOR_HORN_CELL_MORPHOLOGY	DCTN1	IGHMBP2	SMN1	EXOSC9	SLC25A46	ANXA11	GLE1	NEFH	AGTPBP1	CEP126	VRK1	SMN2	PRPH	CPLANE1	ASAH1	UBA1	SOD1	SETX	TFG	EXOSC8	EXOSC3	ATXN3
HP_CEREBRAL_HYPOMYELINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_HYPOMYELINATION	EIF2B4	PHGDH	EIF2B2	CYB5A	TMTC3	ADSL	SPATA5	TUBB4A	RARS1	GJC2	VPS11	STXBP1	EIF2B3	BCAP31	EIF2B5	SOX10	ALG2	SLC25A12	WDR26	PIGW	PIGY	TBCD	POLR3B	HYCC1	PGAP2	PGAP3	PLP1	EIF2B1	SLC1A4	PIGV	PIGO	CYB5R3	PIGL
HP_FOCAL_HEMICLONIC_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_HEMICLONIC_SEIZURE	PCDH19	GABRA1	SCN2A	CUX2	KANSL1	SCN9A	GABRG2	SCN1A	SMARCAL1	GRIN2A	FRRS1L	ATP1A3	SLC12A5	SCN1B	SCN8A	GNB1
HP_APLASIA_HYPOPLASIA_OF_THE_CEREBELLAR_VERMIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_CEREBELLAR_VERMIS	PIGN	CEP290	TSEN2	MEF2C	SEMA3E	TMCO1	CPLANE1	RPGRIP1	GPC4	HYLS1	CPT2	B9D2	KIAA0753	ZIC1	BMP4	SMARCB1	ASXL3	DYNC2I1	WASHC5	B4GAT1	SMARCE1	SETD2	FAR1	FKRP	PGAP1	WDR35	FLVCR2	DPYSL5	ASXL1	IQCB1	ATP6V1A	PLG	VPS51	RNF113A	ARL3	CBY1	FOXC1	SMARCA4	PSAT1	ATP2B3	LETM1	TMEM67	ZEB2	CWF19L1	GRM1	POMK	TMEM237	RBM10	CSPP1	TMEM138	TAF1	HNRNPR	DAG1	POMT2	FDXR	ARID1B	TCTN1	MUSK	RDH12	TUBA1A	ADGRG1	KRAS	CRB1	POMT1	DYNC2H1	TOPORS	VPS4A	LARGE1	TRIP13	DPH1	WARS2	TMEM218	ATP6V0A2	TSEN54	MACF1	MKS1	SRD5A3	C2CD3	NPHP3	CC2D2A	KIF7	KIAA0586	NCAPG2	DPH5	APC2	ARID1A	COG1	POLR3A	CEP41	ATN1	EBF3	COL4A1	ATR	ACY1	SUFU	PRDM13	ATP6V1B2	WDR81	POMGNT2	EBP	EVC2	MRE11	FIG4	PRKDC	TUBB	TRRAP	CEP120	SMARCD1	MID1	RXYLT1	PPP1CB	CRPPA	LCA5	FTO	PDE6D	NRAS	L1CAM	PCGF2	BUB3	RERE	SRPX2	KCNJ13	TMEM216	CHD7	TCTN3	CDKN1C	ARHGEF2	FRMD4A	OFD1	PTEN	PACS1	THOC2	EXOC2	GOT2	INPP5E	NSD1	SEMA6B	ZNF423	CENPF	GMPPB	TULP1	GPC3	CCDC32	TSEN34	B4GALT1	CCDC22	MTM1	FKTN	LRAT	DOK7	KNL1	RPGRIP1L	DCHS1	ALX4	TCTN2	HRAS	RAB3GAP2	SOX11	LRRC32	LAMA1	AHI1	EXOSC8	RAB3GAP1	TRAPPC9	HNRNPH1	PTF1A	KCNQ1OT1	BUB1	VPS35L	PCYT1A	KATNIP	TUBB2B	CPSF3	SACS	AFF3	AIPL1	SPATA7	TXNDC15	MYOD1	CSF1R	PLCH1	TMEM107	CEP164	RAB18	MBD5	SMG9	THG1L	PIBF1	ARMC9	RPE65	GJB2	BUB1B	TMEM231	PI4KA	PMM2	IFT80	GRIA3	TBC1D20	FAT4	CDC42	RARS2	LAMB1	PPP1R21	MAPKAPK5	GTPBP2	NUP88	DHCR7	IFT140	BRF1	RAB11B	TUBB3	RAC1	RD3	GEMIN4	PPFIBP1	ARL13B	IGF2	OPHN1	POMGNT1	WDR73	ALG3	BLTP1	IFT172	IMPDH1	TUBB4B	DYNC2I2	B9D1	SMARCC2	PHGDH	FGFR1	NPHP1	TFAP2A	USP45	MPL	EPG5	KCNQ1	HHAT	EVC	GLI3	TBC1D24	CDC42BPB	CEP57	ATP6V1E1	DYNC1H1	DENND5A	SLC35A2	TOGARAM1	NUP37	TSEN15	SOX4	B3GALNT2	NSRP1	RBM8A	H3-3A	MAN2C1	AP1S2	NEK1	INTS1	CEP104	SLC25A24	GJB6	ARID2	GDF6	GUCY2D	MVK	BCOR	ITPR1	NMNAT1	USP9X	MAST1	SYT2	TBCK	DPF2	SLC18A3	PIGU	MDH1	CRX	WLS	ESCO2	MAB21L1	RNU4ATAC	PIEZO2	RAPSN	FAM149B1	SLC25A19	SEPSECS	PAFAH1B1
HP_FRONTAL_POLYMICROGYRIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRONTAL_POLYMICROGYRIA	AHI1	PPFIBP1	ADGRG1	DYNC1H1	TUBB3
HP_SEVERE_MUSCULAR_HYPOTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_MUSCULAR_HYPOTONIA	PEX6	ABAT	DMXL2	VAMP1	NDUFS6	ITPA	PEX19	PEX14	GCDH	FKBP14	STRADA	CARS2	SNRPN	POMGNT1	FKRP	PEX16	SPTBN4	TRIP4	PEX11B	TPM3	PURA	MYMK	B3GALNT2	GCH1	BMP4	SPEG	RMND1	FKTN	B4GAT1	ACTA1	GRIN1	NEB	PEX1	LMOD3	MTM1	PEX12	LMNA	TBCK	KLHL40	PNPT1	POMT2	LARGE1	AIFM1	PEX13	KLHL41	DPM2	PEX26	DOLK	POMT1	IBA57	SLC39A8	MPLKIP	PEX3	KIF1A	ALG14	PEX5	MPZ	PEX10	SLC25A12	ZNHIT3	SLC25A1	ASCC1	PIGN	GPT2	UBA1	CCDC174	BICD2	PEX2	PIGG	TBC1D24
HP_ABSENT_PATELLAR_REFLEXES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_PATELLAR_REFLEXES	LIFR	MYH14	FBLN5	PMP2	MFN2	SMN1	SMN2	KLHL9	PSMC1	ERLIN1	HSPB3
HP_ACUTE_ENCEPHALOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_ENCEPHALOPATHY	SLC22A5	SLC25A15	COG8	PCCA	ACY1	RANBP2	PCCB	NDUFS4	MYRF	SQOR
HP_HYPOPLASIA_OF_THE_VENTRAL_PONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_VENTRAL_PONS	TSEN34	TSEN2	VRK1	TSEN54	TSEN15	SEPSECS
HP_CEREBELLAR_VERMIS_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBELLAR_VERMIS_ATROPHY	WDR4	TRPC3	RNU12	SEPSECS	HTT	CUL4B	CNTNAP2	CACNA1A	GTPBP2	KIF1A	DAB1	SETX	STXBP1	PRKCG	ITPR1	SCYL1	VPS41	COX20	OPA1	POLR3B	QARS1	FA2H	XRCC4	SLC39A8	TMEM240	ARF1	PIK3R5	CHP1	TDP1	FAR1	DLG4	PEX16	LMX1B	PMPCA	ATXN8OS	MME	RFC1	GRID2	CACNA1G	SACS	CACNA2D2	PUM1	PIGS	ADPRS	MARS2	TUBB	GJB1	PLP1
HP_IMPAIRED_DISTAL_PROPRIOCEPTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_DISTAL_PROPRIOCEPTION	MTTP	TWNK	POLG	SPTLC1	POLR3A	BSCL2	CYP7B1	MORC2	TDP1	KIF1A	POLR3B	XRCC1	DARS2	GDAP1
HP_SEVERE_EXPRESSIVE_LANGUAGE_DELAY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_EXPRESSIVE_LANGUAGE_DELAY	GRIA3	HERC1	ARID1B	RSPRY1	EHMT1	POGZ	SH2B1	KMT2C	ASXL1	TAF1	SPATA5	DPYD
HP_LOBAR_HOLOPROSENCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOBAR_HOLOPROSENCEPHALY	ZIC2	RTTN	CSPP1	TCTN2	TMEM67	RAD21	CC2D2A	MKS1	TCTN3	TMEM107	TMEM237	TCTN1	TMEM216	RPGRIP1	FGFR1	CEP290	TXNDC15	TMEM231	B9D1	RPGRIP1L	B9D2
HP_CEREBRAL_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_HYPOPLASIA	PHGDH	TAF13	HSD17B4	STIL	ASPM	SASS6	GCDH	MYSM1	KNL1	FIG4	DHCR7	PHC1	RTTN	MFSD2A	TRAPPC10	MCM7	MKS1	WDR45B	PYCR2	CEP152	HHAT	KIAA0586	CEP135	MBD5	C2CD3	CSPP1	METTL5	CENPJ	COPB2	ATP1A1	KIF14	CDK6	BRAF	SLC35C1	ARHGEF9	RNU4ATAC	COASY	CEP63	WDR62	NCAPD3	FDXR	MCPH1	CDK5RAP2	VAC14	CIT	TRAPPC14	BUB1B	ANKLE2	FH	DPM1
HP_PONTOCEREBELLAR_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PONTOCEREBELLAR_ATROPHY	FA2H	RORA	CCDC88C	DPM1	VPS4A	LAMA2	SETX	CLTC
HP_IMPAIRED_DISTAL_VIBRATION_SENSATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_DISTAL_VIBRATION_SENSATION	ALDH18A1	CHCHD10	GBA2	POLG	SETX	APTX	NEFL	GCH1	KIF5A	CADM3	GDAP1	XK	CPT1C	EGR2	MPZ	ATP1A1	MORC2	FMR1	CHP1	PMP2	DHTKD1	UCHL1	KCNC3	TWNK	MAG	ABCD1	PRX	MTRFR	CACNA1G	VCP	SH3TC2	KCND3	AMPD2	POLR3B	B4GALNT1	PMP22	DHH	PDYN	PRKCG	LMNB1	PEX10	JAG1	LRSAM1	KIF1A	SPAST	DCAF8	XRCC1	REEP2	PDK3
HP_INTELLECTUAL_DISABILITY_PROGRESSIVE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTELLECTUAL_DISABILITY_PROGRESSIVE	ERCC2	ARHGEF9	TCF4	RAB3GAP2	MTRR	TK2	UBE3A	KCNH1	MGAT2	CTSD	KAT6B	ERCC4	NKX2-5	SLC16A2	NDP	NDE1	L2HGDH	SLC35C1	AIFM1	TONSL	DMPK	ARX	WDR81	OFD1	SUCLA2	GCH1	ACOX1	PEX1	B3GLCT	ATRX	PTS	SNRPN	SRD5A3	DDB2	SNAP29	TSHB	MECP2	SLC9A6	ERCC5	ERCC3	XPC	AP4M1	AHSG	XPA
HP_MENINGOENCEPHALOCELE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MENINGOENCEPHALOCELE	LARGE1	POMT1	FKTN	POMT2	FKRP
HP_INTELLECTUAL_DISABILITY_BORDERLINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTELLECTUAL_DISABILITY_BORDERLINE	MAGEL2	GRIN2A	KCNMA1	SNRPN	CLDN11	AASS	NRAS	TONSL	ENTPD1	NUDT2	SCN3A	YY1AP1	ALOX12B	OCA2	CPLX1	TBC1D24	NDN	SCN8A	GABRG2	SRPX2	IFT172	TRIO	TRAPPC11	ALOXE3	POMK
HP_THICK_CEREBRAL_CORTEX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICK_CEREBRAL_CORTEX	APC2	TBC1D24	NIPA1	ATP6V0A2	ATP6V1E1	TUBG1	NIPA2	PAFAH1B1	CPLX1	ATP6V1A	RELN
HP_FRONTOTEMPORAL_CEREBRAL_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRONTOTEMPORAL_CEREBRAL_ATROPHY	C9orf72	MAPT	PLA2G6	GRN	SPG21	TMEM106B	COG4	TREM2	ATP1A3	GABRA5	CHMP2B	SQSTM1	TTC26	PRKAR1B	HSD17B10	VCP	PSEN1
HP_LOWER_LIMB_HYPERTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_LIMB_HYPERTONIA	KDM5C	SPG7	TSEN2	PNPT1	SLC33A1	SDHD	CLDN11	FAR1	AFG3L2	PIGA	ALDH18A1	RARS1	FA2H	SDHAF1	SLC35C1	SMG9	KAT6A	SDHA	MTPAP	MTRR	SLC39A14	TSEN34	KDM1A	TSEN54	ATRX	KIDINS220	SDHB	TSEN15	VPS37A	SEPSECS	LBR	ATL1	ASXL1	RNU7-1
HP_ABDUCENS_PALSY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABDUCENS_PALSY	WDR26	NAXE	PSAP	TRPV4	CCDC174	TBC1D2B	TMEM67	CDH23	MEN1	AIP
HP_FUSION_OF_THE_CEREBELLAR_HEMISPHERES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FUSION_OF_THE_CEREBELLAR_HEMISPHERES	POMT1	FKRP	POMK	POMGNT1	GMPPB	POMT2
HP_FRONTAL_CORTICAL_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRONTAL_CORTICAL_ATROPHY	GRIA3	SCYL2	OPHN1	SPG11	MEF2C	CYB5A	POMT2	VPS13A	HIVEP2	CYB5R3	VCP	PARS2
HP_ABNORMAL_AGGRESSIVE_IMPULSIVE_OR_VIOLENT_BEHAVIOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_AGGRESSIVE_IMPULSIVE_OR_VIOLENT_BEHAVIOR	CEP290	BCOR	ODC1	NSD2	CUL4B	SPATA5	NSDHL	HECW2	DEAF1	HTT	ZBTB20	GLS	GRIA2	CASZ1	CACNB4	TMEM67	SMARCB1	TUBG1	GNAO1	SETD2	DPYD	EHMT1	FBXL3	PIGL	DPYSL5	VCP	SPOP	TMEM231	MAGEL2	DHCR7	HSPG2	NAGLU	CEP152	FBXW11	TCF4	FMO3	SMARCA4	PUS3	ATP13A2	WAC	CAMTA1	NALCN	NKAP	SCN2A	ALDH5A1	UNC80	LARP7	WARS2	UROC1	KDM5B	GRIN1	ARID1B	MED12L	CREBBP	NRCAM	USP9X	KMT2C	CHMP2B	GRN	RPS6KA3	SLC6A8	GAMT	NDP	NIPA1	RUSC2	PSMD12	AP1G1	PLA2G6	FIG4	IMPA1	VAMP2	AGO2	TBX1	KIF11	PRDM16	PIGQ	PPP2R5D	PACS1	TCF20	PIGF	LINGO1	DMXL2	HTR2A	FLII	ASXL3	LMAN2L	KMT2A	RNU7-1	APC2	KDM5C	ARID1A	PRNP	CHKA	EFHC1	TRIO	PDPN	NTRK1	CHD7	HDC	SOX5	ENTPD1	RAI1	KCNT1	SETD1A	EIF2S3	GNB1	FRMPD4	GATAD2B	POU4F1	FMR1	CDH2	SPEN	KARS1	NDN	SMARCD1	SIK1	SATB2	PDE2A	SLC1A3	SVBP	PRKAR1B	KDM4B	TMEM147	SNORD115-1	RERE	SPTBN1	KMT2E	GABRD	PWRN1	RTTN	NAA10	HERC2	GRM7	HDAC4	PWAR1	ZMYND11	PANK2	CTNNB1	POGZ	PCDH19	SYT1	CHD2	INPP5E	MADD	NSD1	DGCR8	DNMT3A	MAPK10	TTC5	JRK	GABRB3	PIGY	TMEM240	NIPA2	CDKL5	MYT1L	SLITRK1	UQCC2	SPAST	NFIB	WDR45	SLC6A17	MMP23B	CACNA1A	FGF14	PSEN1	ALDH4A1	ATP1A2	BPTF	OCA2	FTSJ1	SNRPN	EP300	ZMIZ1	NDST1	SLC52A2	SYN1	WASF1	KNL1	TIMM50	DCHS1	CASK	USP7	SHANK3	RBL2	TTI2	IQSEC2	C12orf57	NFASC	AUH	ATP6V0A1	GJA8	ATP7B	GABRA1	METTL5	SMARCE1	SOX11	RLIM	OCRL	C9orf72	SLC6A4	MBD5	SMARCA2	SRCAP	PIGP	ABCA12	BRF1	TREM2	NONO	FOXP1	AFF2	WASHC4	BCORL1	KDM3B	SIM1	AMT	PHIP	ADAT3	MAN1B1	MGAT2	C12orf4	KAT5	CLCN3	PAH	CILK1	MKRN3	HIVEP2	KMT5B	GABBR2	ANK3	HPRT1	SKI	THOC2	IQSEC1	ADSL	ATP1A3	GRIA3	ALG14	NDE1	WDR62	EEF1A2	SLC25A22	PAK3	GNS	SHMT2	DNM1	ABCA2	IFNG	DGCR6	CLCN4	VPS13A	NAGS	DDX3X	PRODH	GRIN2A	PIDD1	MAPK1	DPAGT1	TRAPPC10	CLN5	FAT4	UBE4A	STEEP1	RBBP8	TRIM8	GCSH	TRIP12	CNTNAP2	CEP104	TKT	UBTF	RPL10	TBP	LUZP1	VPS16	ARX	ATG7	TREX1	MECP2	DYRK1A	KIF5C	NAT8L	ARPC4	PIGH	MED12	TMCO1	UBE2A	CLN3	SMARCC2	SLC25A13	PUS7	OPHN1	TTC19	NFIX	CUX2	AP1S2	SMG8	ALG13	SQSTM1	TAOK1	KCNAB2	TFE3	SH2B1	CLCN2	CHD5	CRBN	KCNA1	KPTN	NPAP1	GJB2	RORB	ESS2	MAOA	DGCR2	SCN1B	CDC42BPB	GLDC	DCDC2	NIPBL	KCNQ3	SLC2A1	PTCHD1	NBEA	H4C5	SNORD116-1	PRKCZ	SLC1A4	CAMK2G	ELP2	HSD17B10	TMEM222	SOX4	SUCLG1	MANBA	BCAP31	DNM1L	ECM1	ATXN10	KIF15	SETBP1	TMEM106B	SASS6	PSMB1	TSC1	NEXMIF	HNRNPH2	LINS1	ARID2	PYCR2	STT3A	GRIK2	GJA5	CAMK2B	CYP27A1	UBE4B	SARS1	DYNC1I2	TSC2	ATRX	SCN1A	SLC2A3	HTRA1	MED13L	FRRS1L	DPF2	LEPR	MAPT	PRRT2	NTNG2	NEUROD2	CEP85L	SIN3A	MAB21L1	SPR	MED25	TYROBP	EBP	CLTCL1	SHQ1	ADNP	GRIA1	HEPHL1	NAXD	ATP1A1	PNKP
HP_CONGENITAL_NYSTAGMUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_NYSTAGMUS	FRMD7	TMEM106B	PAX6	ATP6V1B2	TBC1D24	MT-ATP6	NUP62	HMX1	LRP5	CNGB3	GRIK2	TULP1	KRT14	HPS3	ARHGEF2	PGAP1	KRT5	ADAR	EXOSC9
HP_IMPAIRED_DISTAL_TACTILE_SENSATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_DISTAL_TACTILE_SENSATION	TWNK	POLG	SPTLC1	MTRFR	ATL3	PNPT1	SETX	BSCL2	KLHL9	ATXN1	ADA2	HARS1	MORC2	GDAP1	DCAF8	ATL1	MPV17	SPTLC2	RAB7A	DHH
HP_IMPAIRED_VIBRATION_SENSATION_AT_ANKLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_VIBRATION_SENSATION_AT_ANKLES	ALDH18A1	PRKCG	GBA2	XK	ABCD1	CACNA1G	KCND3	AMPD2	B4GALNT1	SPAST	UCHL1	REEP2
HP_RETROCEREBELLAR_CYST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETROCEREBELLAR_CYST	SNX14	GRIA3	AHDC1	OPHN1	ZSWIM6	TMTC3	GRM1	DOCK6
HP_OLIVOPONTOCEREBELLAR_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OLIVOPONTOCEREBELLAR_HYPOPLASIA	TOE1	RTTN	MINPP1	FKRP	TSEN54	POMK	GMPPB	POMT1	PPP2R1A	POMGNT1	ATXN2	POMT2	PMM2
HP_LATERAL_VENTRICLE_DILATATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LATERAL_VENTRICLE_DILATATION	ZIC2	GFM2	PSAT1	GLUL	SLC35A2	ODC1	TUBB2B	HS6ST2	TMEM147	MAPKAPK5	KIAA0753	SNRPN	WARS2	COG5	SMG9	SON	PGAP3	ZIC1	DTYMK	TTC26	RAB3GAP1	SPG11	PIGA	PPP2R5D	CLTC	KIDINS220	GRN	KDM6A	VRK1	KIAA0586	KMT2D	RAC1	ASXL3	ALDH6A1	SPRED2	RNU7-1	SATB1	VPS51	CSPP1	AHI1	EZH2	FBXW11	TUBB3	YIPF5	DCX	PDHA1	TTC5	TAF8	PUS3	ZEB2	RNU4ATAC	TAOK1	YY1	ALG2	MED25	TYROBP	ATP6AP2	LIPT2	NDUFB11	PTPN23	NEK1	GCDH	GAN	CLCN3	USP18	NFIX	GRIN1	TNFRSF11A	CCDC174	KLHL15	D2HGDH	VPS13A	MEF2C	LONP1
HP_ABNORMAL_AUDITORY_EVOKED_POTENTIALS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_AUDITORY_EVOKED_POTENTIALS	GALC	SOX10	EDNRB	CYP27A1	OPA1	MOGS	MYH3	ERCC6	SPTBN4	ERCC4	NDRG1	SH3TC2	EBP	LMNB1	PSAP	RIPOR2	ERCC8	GJC2	NEFL	DIAPH3	MTMR2	TIMM8A	OTOF	NMNAT1	ARHGEF2
HP_JERKY_HEAD_MOVEMENTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JERKY_HEAD_MOVEMENTS	SLC2A1	PIGT	MAPT	GABRB3	JRK	VAMP1	GABRA1	PRNP	GABRG2	CACNA1H	DLAT
HP_PERIVENTRICULAR_LEUKOMALACIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIVENTRICULAR_LEUKOMALACIA	AMPD2	NRCAM	EOGT	PPFIBP1	ERCC3	NDUFC2	AARS2	ERCC2	TARS1	PRR12	PDHB	RNF113A	FCSK	SON	NOTCH1	CNTNAP2	PC	CLCN4	RBPJ	ARHGAP31	PDHA1	TET3	PUF60	DOCK6	MORC2	MPLKIP	BRF1	DDHD2	NRROS	CARS1	TRMT1	TPRKB	OPA1	CDK13	USP7	GTF2H5	TBCK	DLL4	ARID2	SPATA5L1	HK1	GTF2E2	LONP1	OGDHL	EDEM3
HP_GRAMMAR_SPECIFIC_SPEECH_DISORDER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GRAMMAR_SPECIFIC_SPEECH_DISORDER	C9orf72	PSEN1	MAPT	FOXP2	CHMP2B	GRN	TREM2	VCP	TMEM106B	GALT
HP_SLEEP_WAKE_CYCLE_DISTURBANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLEEP_WAKE_CYCLE_DISTURBANCE	DISP1	SHH	FOXH1	CDKL5	FGFR1	ZIC2	FGF8	TDGF1	PSEN2	PER2	STIL	PLCH1	DLL1	GAS1	PTCH1	SNRPN	TIMELESS	TGIF1	DHCR7	TELO2	NODAL	GLI2	CDON	STAG2	SMC1A	FBXL3	CAMK2A	UBE3A	SIX3	CHD8	ATP10A	GNS	CSNK1D	KIF15	RAI1	TAF1	GRIA3	PER3	APOE
HP_PROGRESSIVE_LEUKOENCEPHALOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_LEUKOENCEPHALOPATHY	KIF5A	PLAA	AARS2	SDHA	COA8
HP_UPPER_LIMB_SPASTICITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_LIMB_SPASTICITY	GBA2	RARS2	SPART	THOC2	DDHD2	CLCN4	UBAP1	CYP7B1	WASHC5	KIF5A	ERLIN2	SIGMAR1	SPTLC1	ALS2	ACTL6B	RNF170	TBCD	ZFYVE26	PIGA	GJC2	SPG11	FUS	SELENOI	HEPACAM	SATB1
HP_ALOBAR_HOLOPROSENCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALOBAR_HOLOPROSENCEPHALY	ZIC2	STAG2	SIX3	PLCH1	PTCH1
HP_DYSPLASTIC_CORPUS_CALLOSUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSPLASTIC_CORPUS_CALLOSUM	NSRP1	SVBP	TSEN2	AGTPBP1	RTTN	PPP1R12A	KAT5	ODC1	LMNB1	C2orf69	SON	NDUFB7	GPSM2	ATAD3A	SIN3A	NONO	DDB1	HSPA9	PUS3	TUBA8	MCOLN1	NT5C2	DCHS1	EARS2	PLXNA1	PIK3C2A	TSEN34	THOC6	TSEN54	TUBA1A	KIAA0586	SIN3B	TBCK	TSEN15	PRORP	ATPAF2	SEPSECS	PIGH	FAT4
HP_BASAL_GANGLIA_GLIOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BASAL_GANGLIA_GLIOSIS	NDUFAF3	MT-ATP6	FARS2	NUP62	NDUFS2	SCO2	NDUFB8	VRK1	PDHA1	PRNP	SURF1	ADAR	LONP1
HP_MORNING_MYOCLONIC_JERKS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MORNING_MYOCLONIC_JERKS	CACNB4	EFHC1	SCARB2	CSTB	CLCN2	PRICKLE1	CILK1	JRK	GABRA1	KCNQ3	GABRD
HP_LOSS_OF_PURKINJE_CELLS_IN_THE_CEREBELLAR_VERMIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOSS_OF_PURKINJE_CELLS_IN_THE_CEREBELLAR_VERMIS	CACNA1G	SACS	TSEN54	ATXN1	NOP56
HP_MOTOR_AXONAL_NEUROPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOTOR_AXONAL_NEUROPATHY	CTDP1	TRAPPC11	KCNK9	AGTPBP1	PNPLA6	ATL3	SPG7	AAAS	VCP	HMBS	OPA1	KLC2	HINT1	SPTLC2	MORC2	C19orf12	XK	HNRNPA1	PEX10	TBCD	AIFM1	GAN	GMPPA	LMNA	SPTLC1	WDR48	PLEKHG4	SLC12A6	HARS1	VWA1	WARS1	COASY	HNRNPA2B1	ATL1	EXOSC9
HP_POOR_FINE_MOTOR_COORDINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POOR_FINE_MOTOR_COORDINATION	SCN2A	SBF2	SCN1A	NPAP1	MMACHC	MEG3	GNB5	FXN	RNU12	ALMS1	SLC30A10	SNORD115-1	HTT	DLK1	PIEZO2	DMPK	MFN2	MKRN3	RAI1	PWRN1	GNE	RTL1	MAGEL2	GDAP1	C19orf12	PCDH19	SCN1B	SNORD116-1	SLC2A3	PWAR1	FMR1	STX1B	ADGRV1	SCN9A	RAD51	THG1L	GABRG2	PDHX	PPP2R2B	EZH2	VCP	FOCAD	RDH11	DCC	CXCR4	HCN1	FOXP2	ZEB2	MTRFR	NTN1	HERC2	DNAL4	GABRD	GABRA1	PRNP	DARS2
HP_POOR_GROSS_MOTOR_COORDINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POOR_GROSS_MOTOR_COORDINATION	PDHX	NPAP1	HERC2	POMT1	FKRP	SNORD116-1	SNORD115-1	PWAR1	LARGE1	CAMTA1	KCNQ2	DCX	GMPPB	POMT2	MKRN3	FOXP2	CLN5	PWRN1	MAGEL2	GDAP1
HP_CORTICOSPINAL_TRACT_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORTICOSPINAL_TRACT_HYPOPLASIA	FLII	DEAF1	RAI1	PDHB	L1CAM	IQSEC2
HP_ATTENTION_DEFICIT_HYPERACTIVITY_DISORDER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATTENTION_DEFICIT_HYPERACTIVITY_DISORDER	PMS1	DEPDC5	PDZD8	ZIC2	SEMA3E	ODC1	VPS37D	PHF21A	EEF1A2	PLCH1	HOXA2	DEAF1	DNM1	PRNP	TGIF1	GNE	GABRA5	CACNA2D1	CDK19	TMEM67	NODAL	TUBG1	SETD2	SIX3	ATP1A2	DHCR7	MSH2	GP1BB	LGI3	ADH5	MED13	TET3	LIG4	EIF2AK1	NTRK2	WAC	DNAJC12	MED12	RREB1	NKAP	DLL1	SMC1A	ACTL6B	TAF1	HNRNPR	GAS1	PHIP	NLGN1	SCN1A	HSPG2	AP2M1	STIL	SHH	MED12L	SH3KBP1	ASPM	ZDHHC9	MLXIPL	SATB2	FOXH1	GRIN2A	CACNA1A	FGF8	SLC6A8	NDP	NIPA1	GABRB3	YWHAG	ADGRL1	YY1	AGO2	CABP4	CNKSR2	KIF11	TBX1	STAG2	CLTC	DRD4	IGF1	FKBP6	FLII	APC2	BAP1	TRIO	FOXP1	HDC	SOX5	RAI1	GNB1	CDON	GLI2	GRIA4	CLIP2	CDH2	NOP56	MAP1B	SPEN	GABRA2	FLG	SPRED1	RAD21	PRKAR1B	PCGF2	FGFR1	KDM4B	CIC	SNORD115-1	CSGALNACT1	RERE	SPTBN1	CAMTA1	DLG3	ALKBH8	CHD2	SLC6A1	PWRN1	CACNA1H	CHD7	FGFR3	SCAPER	SCN3A	DRD5	PWAR1	ABCD1	ATP6V0A1	NSD1	KCNT1	DDB1	THRB	SLC6A19	NIPA2	MSH6	SLITRK1	NFIA	NAA15	TNPO2	AARS1	TRAK1	TUBA1A	HCN1	SIM1	COMT	BAZ1B	RSRC1	ELN	CDK8	POLA1	ZMIZ1	SEC24C	RIC1	FLI1	MAGEL2	CHRNA7	EIF4H	SLC2A1	KIF14	CRH	BMPR1A	MCTP2	SOX6	ATP6V1A	SEMA4A	SLC13A5	TRAPPC14	DYRK1A	METTL5	TLK2	CARS1	OCRL	IGF2	SMARCA2	GNAQ	PRR12	ARV1	CELF2	FZR1	SYNJ1	BCORL1	SYNGAP1	KDM3B	GALT	DISP1	TSC2	IKBKG	BRD4	PPM1D	SH2B1	C12orf4	TUBB2B	KAT5	TSC1	PAH	SCN8A	TSHB	NF1	MKRN3	HMGA2	PANK2	NECAP1	TNIK	CHRNA4	KMT5B	CACNA1B	FANCD2	FGD1	TIMM8A	TNRC6B	PTCH1	FGF13	METTL27	ATP1A3	TDGF1	DPH1	AP3B2	HDAC8	IQSEC1	DHDDS	FAN1	GTF2IRD1	SHMT2	GABRG2	SHOC2	PRKCG	FGF12	UBE3A	IFNG	FANCL	KRAS	PIDD1	MAPK1	TIAM1	CHRNB2	UBE4A	GNB5	BCL7B	STEEP1	NEXMIF	PPP1R21	SLC38A3	GRIA1	NCF1	PDGFRB	TKT	MLH1	CRKL	IQSEC2	TUBB3	PPP3CA	STS	SZT2	ARPC4	RFC2	PIK3CA	TBL2	TMCO1	TBL1X	PUS7	LHCGR	GTF2I	GABRB2	LMAN2L	TAOK1	CHRNA2	PARS2	HERC2	PRKD1	ZMYM2	CHD5	KCNA2	CDH11	STX1A	CSNK2A1	AUTS2	CRBN	DNAJC30	NPAP1	NSUN2	TBX2	ZNF292	GATA4	CDC42BPB	PCNT	DCDC2	BCR	SNRPN	SRCAP	PTCHD1	KAT8	HIRA	NBEA	GABRA1	PLAG1	H4C5	SNORD116-1	CACNA1C	SETD5	UPF3B	DALRD3	SPG7	MADD	SMPD1	ARVCF	SMC3	HDAC4	NBN	SLC7A6OS	BUD23	SETBP1	PSMB1	SRPX2	EPCAM	RPS20	WWOX	USP7	PIEZO2	KMT2B	HNRNPH2	JRK	KCNN2	KCNB1	TPH2	CDKN1C	PPP1R12A	TGFBR2	GRIK2	PMS2	CYP27A1	TANC2	NR2F1	DHTKD1	KANSL1	GRIN2D	ANKRD11	NIPBL	OPHN1	DYNC1I2	GTF2IRD2	LIMK1	ANKRD17	MLH3	GALC	TMEM270	FMR1	GABBR2	CYFIP2	SIN3A	JMJD1C	UBA5	NUS1	SLC1A2	ANAPC1	ADNP	GLUD1	UFD1	WBP11	ARID2
HP_PROGRESSIVE_SPASTIC_PARAPLEGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_SPASTIC_PARAPLEGIA	PET100	FLRT1	NDUFV2	NDUFAF2	NDUFS2	PNPLA6	SLC33A1	KPNA3	NDUFA9	KIF1A	KY	CPT1C	NDUFS1	UBAP1	NDUFAF6	ATP13A2	WASHC5	LIPT1	AP5Z1	FOXRED1	AP4B1	ARSI	IBA57	FARS2	FA2H	RTN2	MT-ATP6	NDUFS7	KLC2	RAB3GAP2	TACO1	NDUFV1	ZFR	KDM5C	HACE1	AP4M1	NDUFA10	KIDINS220	NDUFA13	SDHA	AP4E1	MARS1	SLC19A3	PDHA1	COX15	ECHS1	CCT5	AP4S1	PLP1	SURF1	NDUFS4	NDUFA2	NDUFAF5	NDUFS8	NDUFS3	SELENOI	PGAP1	NDUFA12	MTFMT	NDUFA4
HP_PAIN_INSENSITIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAIN_INSENSITIVITY	KDM5C	TRIO	SCN11A	IARS2	ATL3	NTRK1	NGF	NGLY1	EBF3	PRDM12	SCN9A	TMEM218	DNM1L	SPTLC2	DEAF1	CLTCL1	HDAC4	SPTLC1	MECP2	GRIA3	TDP1	MPV17	ATL1	ZFHX2	DDHD1
HP_PSEUDOBULBAR_PARALYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSEUDOBULBAR_PARALYSIS	ACTB	DCTN1	ZFYVE26	SEC31A	PRPH	ALS2	HMBS	ADGRG1	NOTCH3	HTRA1	ALDH18A1	TGM6	LMNB1	RARS1	SOD1	SRPX2	NEFH	NONO	CYP27A1	B4GALNT1	FIG4	PI4KA
HP_CEREBRAL_BERRY_ANEURYSM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_BERRY_ANEURYSM	ENG	THSD1	TGFBR3	ANGPTL6	PKD1	COL3A1
HP_CEREBELLAR_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBELLAR_DYSPLASIA	CDC42	LAMA1	PTEN	POMT1	COG1	RXYLT1	THOC2	RAC1	BLTP1	ADGRG1	GPSM2	SRPX2	ARMC9	MICU1	POMGNT1	FKRP	PI4KA	LARGE1	B3GALNT2	IDH1	FKTN	KIAA0586	POMT2
HP_GENERALIZED_HYPERREFLEXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_HYPERREFLEXIA	CARS1	ERCC3	ERCC2	TARS1	SPG7	EEF2	RNF113A	GTF2H5	SLC52A3	GTF2E2	SLC2A1	ABCD1	SLC25A12	MPLKIP
HP_HYPOPLASIA_OF_OLFACTORY_TRACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_OLFACTORY_TRACT	FAM149B1	TMEM216	CPLANE1	KIF7	TOPORS	SOX9	OFD1	TCTN3	PDE6D	KIAA0753
HP_CHRONIC_LYMPHOCYTIC_MENINGITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_LYMPHOCYTIC_MENINGITIS	RFXAP	RFX5	SLC35C1	CIITA	RFXANK
HP_FOCAL_WHITE_MATTER_LESIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_WHITE_MATTER_LESIONS	MTRFR	RNASET2	PDP1	RRM2B	PIK3C2A	MTOR	TWNK	TSC1	SLC25A4	ADNP	TREX1	POLG	TSC2	POLG2	ZEB2
HP_MULTIFOCAL_CEREBRAL_WHITE_MATTER_ABNORMALITIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIFOCAL_CEREBRAL_WHITE_MATTER_ABNORMALITIES	SLC25A15	RNASEH2C	TREX1	NOTCH3	LSM11	RNU7-1	GAA	IFIH1	TRAPPC9	D2HGDH	SAMHD1	PUS3	ADAR	RNASEH2A	RNASEH2B
HP_PROXIMAL_HYPERREFLEXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_HYPERREFLEXIA	ALDH18A1	CAPN1	FLRT1	KPNA3	SDHD	REEP1	FAR1	HSPD1	UBAP1	SACS	ABCC9	HARS1	NONO	KLC2	SDHAF1	ARL6IP1	ERLIN2	COX4I1	KIF5A	PGM3	C19orf12	SDHA	SPG11	CYP2U1	SIGMAR1	FTL	IBA57	ATP13A2	SPTLC2	RTN2	VPS37A	SDHB	MTPAP	HEXB	SPAST	TNR
HP_GENERALIZED_CEREBRAL_ATROPHY_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_CEREBRAL_ATROPHY_HYPOPLASIA	SCN2A	TBP	CLN3	SCN1A	SCN1B	STX1B	HCN1	ADGRV1	SCN9A	PLA2G6	GABRD	GABRG2
HP_DISTAL_PERIPHERAL_SENSORY_NEUROPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_PERIPHERAL_SENSORY_NEUROPATHY	MT-ND4	MT-TS2	DKK1	MT-ND6	SPG11	MT-ND5	IBA57	MT-CO3	MT-TH	MT-CO1	MT-TL1	MT-TW	GSN	MT-TF	HADHA	MT-TQ	MT-CO2	MT-ND1	HADHB
HP_INFERIOR_CEREBELLAR_VERMIS_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFERIOR_CEREBELLAR_VERMIS_HYPOPLASIA	L1CAM	MDH1	BMP4	KIAA0753	INTS1	ASXL3	LAMA1	PIEZO2	GRM1	TRAPPC9	GEMIN4	BRF1
HP_THICK_CORPUS_CALLOSUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICK_CORPUS_CALLOSUM	ATP1A2	HERC1	PRMT7	TUBG1	SZT2	ODC1	KDM3B	TBC1D7	C12orf57	VPS13B	NONO	MAST1	PIK3R2	CAMK2A	ATP1A3	CNOT3
HP_EXTRAPYRAMIDAL_MUSCULAR_RIGIDITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXTRAPYRAMIDAL_MUSCULAR_RIGIDITY	CLN3	MAPT	RNASEH2C	MICU1	TREX1	PRNP	HLA-DQB1	LSM11	RNU7-1	IFIH1	ATP6AP2	OPA3	TAF1	SAMHD1	ADAR	RNASEH2A	RNASEH2B
HP_DECREASED_AMPLITUDE_OF_SENSORY_ACTION_POTENTIALS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_AMPLITUDE_OF_SENSORY_ACTION_POTENTIALS	SBF2	UQCRC1	RFC1	LITAF	ATL3	DHX16	HK1	LMNA	HSPB8	SPTLC1	ATXN1	NDRG1	SORD	MORC2	NEFL	TRPV4	CCT5	GDAP1	FXN	VPS13A	ATL1	MPV17	SPTLC2
HP_DILATED_THIRD_VENTRICLE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DILATED_THIRD_VENTRICLE	CSPP1	DNMT1	KIAA0586	TTC5	ODC1	KCNN2	TAOK1	C2CD3	KIDINS220	USP7	MED25	ATP6AP2
HP_HYPERACTIVE_PATELLAR_REFLEX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERACTIVE_PATELLAR_REFLEX	SDHA	ALDH18A1	SIGMAR1	SDHD	IBA57	ATP13A2	SACS	SDHB	HARS1	MTPAP	HEXB	ARL6IP1	NONO	SDHAF1	COX4I1	PGM3	C19orf12
HP_SOCIAL_AND_OCCUPATIONAL_DETERIORATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SOCIAL_AND_OCCUPATIONAL_DETERIORATION	MTHFR	CREBBP	CHI3L1	COMT	DRD3	GRIN2A	APOL2	MAPT	DAOA	SYN2	HTR2A	APOL4	RTN4R	EP300
HP_CHIARI_TYPE_I_MALFORMATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHIARI_TYPE_I_MALFORMATION	SPRED1	POLR3A	STAG1	KANSL1	CREBBP	H3-3A	FGFR2	SH2B1	NOTCH3	CWC27	DNMT3A	NFIA	MAF	ERF	NONO	NOVA2	SLC39A14	POLR3B	MLXIPL	ZEB2	TAOK1	DHCR7	NFKB2	SMO	DKK1	CDC45	DHDDS	SKI	TMEM94	CSF1R	KRAS	SETBP1	DPF2	HRAS	ELN	PPP1CB	EP300	PAX2
HP_HYPOINTENSITY_OF_CEREBRAL_WHITE_MATTER_ON_MRI	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOINTENSITY_OF_CEREBRAL_WHITE_MATTER_ON_MRI	UBE2A	GALC	GFM2	TYMP	POLG	PSAP	ADSL	LAMA2	SAMHD1	FDXR	TREX1	ADORA2A	KARS1	ZEB2
HP_INFANTILE_ENCEPHALOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFANTILE_ENCEPHALOPATHY	ZNHIT3	TSEN54	STXBP1	SLC19A3	D2HGDH	GCDH	CCDC88A	TK2
HP_DEMYELINATING_PERIPHERAL_NEUROPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEMYELINATING_PERIPHERAL_NEUROPATHY	COA7	NRCAM	SOX10	MPZ	SLC12A6	ERCC5	MT-ND2	RFC1	GJC2	SACS	PMP22	RNF168	RNASEH2A	GDAP1	MT-TW	NEFL	DNAJC3	ERCC8	RNASEH2C	ZFYVE26	MT-ND1	TYMP	RNU7-1	IFIH1	POLG	ERCC6	MT-TL1	HARS1	VRK1	MT-ND5	MT-ND6	SAMHD1	ADAR	MT-ND3	DEGS1	MT-ATP6	MANBA	RRM2B	ACO2	HK1	ERCC2	SH3TC2	MT-ND4	BAG3	LIG3	POLR3B	ABHD12	TFG	PLP1	ERCC4	TREX1	MT-TV	LSM11	MOGS	SELENOI	MT-TK	DMXL2	NDRG1	ERCC3	AFG3L2	RNASEH2B
HP_PERIVENTRICULAR_CYSTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIVENTRICULAR_CYSTS	LIPT2	ODC1	PDHX	LETM1	CPLX1	PDHB	FGFRL1	FARSA	OCRL	CTBP1	GFAP	NSD2
HP_CENTRAL_HYPOVENTILATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_HYPOVENTILATION	LBX1	NDUFAF3	MYPN	PHOX2B	NDUFS2	TPM2	DCTN1	ASCL1	HOXA1	NDUFB8	MECP2	RET	TPM3	SURF1	NDUFAF2	SCO2
HP_TEMPORAL_CORTICAL_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TEMPORAL_CORTICAL_ATROPHY	C9orf72	OPHN1	COG1	GRM7	PDE6D	ADARB1	CYB5A	VCP	NEK1	BICRA	TMEM106B	CAMTA1	PSEN1	CHMP2B	GRN	ABCA7	RNU4ATAC	TREM2	CYB5R3	MAPT	CPA6
HP_PROXIMAL_AMYOTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_AMYOTROPHY	STIM1	SMN1	CRPPA	FKRP	MYH7	ADSS1	DYSF	VAPB	MTMR14	ATRX	TMEM43	POMT1	PRKACA	USP8	RYR1	TNNT1	TNXB	CAPN3	MORC2	FKTN	TRIM32	MYOT	GFPT1	LMNA	NEFL	PDE8B	FUS	EMD	ANO5	SLC12A6	PEX6	SYNE2	TRPV4	TFG	INPP5K	TCAP	TP53	PRKAR1A	PDE11A	POMT2	SYNE1	REEP1	ARMC5	DOK7	HNRNPDL	SGCB	FHL1	BRAF	NR3C1	SMN2	CDH23	GNAS	USP48	MGME1	DYNC1H1	MT-TE	SYT2	DNM2	SGCD
HP_PROGRESSIVE_PERIPHERAL_NEUROPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_PERIPHERAL_NEUROPATHY	PSAP	ARSA	ABCA1	LYST	COA8
HP_SENSORIMOTOR_NEUROPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SENSORIMOTOR_NEUROPATHY	IGHMBP2	VPS41	PNKP	MT-ND4	MT-ND5	IARS2	MT-ND2	RFC1	PIGB	GBA2	SACS	SETX	KIF5A	DHH	PDYN	DNAJC3	SPG11	MT-ND1	OPA1	NEFL	TYMP	VPS13D	POLG	MT-CO1	ATP1A1	PEX6	PIK3R5	VRK1	UCHL1	PPP2R2B	AFG3L2	MME	NEFH	RRM2B	MT-TH	SH3TC2	PEX7	MT-TL1	LIG3	GALC	RAB7A	PSAP	IFRD1	MT-TV	SPTLC2	MT-TK	AMACR	MPZ	KIF1A	CLCF1	SLC52A2	SLC30A10	NGLY1	LAMA2	FDX2	MT-CO2	RPIA	ABCD1	SLC25A46	MT-TW	DNM1L	SCO2	B2M	AIFM1	COA8	MT-TF	TDP1	MPV17	AHCY	MT-ND6	SCYL1	MT-ND3	HADHB	MT-ATP6	LITAF	EMILIN1	PDK3	VCP	COA3	PHYH	RNASEH1	HADHA	B4GALNT1	ABHD12	CLP1	MT-TS2	MCM3AP	MT-CO3	MRE11	PMP22	GJB1	PLA2G6	MT-TQ	XRCC1	TFG	HSD17B4	GDAP1
HP_DISTAL_UPPER_LIMB_AMYOTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_UPPER_LIMB_AMYOTROPHY	CHCHD10	SVBP	FXN	MPZ	GJB1	VCP	BSCL2	DYSF	ACTA1	SLC52A3	NGLY1	NEB	TIA1	NEFL	NOTCH2NLC	GARS1	CADM3	HINT1	MARS1	KANSL1	GBF1	CHRNA1	IDUA	SPG11	PLOD3	CPLANE1	RYR1	TIMM8A	LMNA	LDB3	KLHL9	DCTN1	GDAP1	SLC12A6	HARS1	SQSTM1	MORC2	TRPV4	MATR3	CAV3	FLNC	FUZ	PDK3	SLC39A13	PRX	GIPC1	PMP22	CEP126	TFG	HSPB3	REEP1	JAG1	COMP	INF2	SLC25A21	ALS2	FBLN5	KIF1A	TNR	SLC5A6
HP_PROGRESSIVE_EXTRAPYRAMIDAL_MOVEMENT_DISORDER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_EXTRAPYRAMIDAL_MOVEMENT_DISORDER	GAMT	RARS1	ATP13A2	MICU1	ZNF592	WDR73	FA2H	PLA2G6	CLPB
HP_FLUCTUATIONS_IN_CONSCIOUSNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLUCTUATIONS_IN_CONSCIOUSNESS	MT-ND4	MT-ND6	SLC25A13	MT-ND5	NDUFS2	MT-TH	MT-TL1	SNCB	NDUFB8	SURF1	MEN1	MT-CO2	SCO2	MT-TS2	NDUFAF3	ALAD	GBA1	MT-CO3	SNCA	MT-CO1	MT-TW	MT-TF	MT-TQ	YY1	MT-ND1
HP_SLOWED_SLURRED_SPEECH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLOWED_SLURRED_SPEECH	SPG7	MAPT	PIDD1	DNAJC6	PODXL	SYNJ1
HP_PERIVENTRICULAR_HETEROTOPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIVENTRICULAR_HETEROTOPIA	VPS35L	CPLANE1	NRCAM	KAT6B	ZMIZ1	ZNF292	DHX16	CSGALNACT1	NEDD4L	ERMARD	ADGRL1	TMTC3	DHCR7	KAT8	TBC1D24	RTTN	INTS8	FLNA	CSF1R	PLCH1	ZSWIM6	C2CD3	MAST1	MAN1B1	ARF1	FAT4	KATNB1	ALDH6A1	PDHB	ARFGEF2	MAP1B	ZEB2	CPLX1	DCHS1	FMR1	CDH2	APC2	SLC25A24	PRORP	ANKRD11
HP_PAROXYSMAL_DYSKINESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAROXYSMAL_DYSKINESIA	SLC1A3	SLC2A1	KCNMA1	PRRT2	PDE2A	PNKD	SH2B1	ADCY5	ATP1A3	SCN8A	GRIN1	MECR	ATP1A2	CACNA1A
HP_MOTOR_POLYNEUROPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOTOR_POLYNEUROPATHY	ALDH18A1	TRPV4	SLC12A6	LYST	CPSF3	HMBS	SLC25A1	CHAT	VAMP1	GJC2	SCO2	ARL6IP1	BSCL2	HINT1	AGRN	TFG	SLC18A3	SYT2	REEP1	NEFL	ALAD	SPG11	AIFM1	CPOX	SLC5A7	PRPS1	SNAP25	CTDP1	SELENOI	GARS1	PPOX	COL13A1	MYO9A	SYNE1	UBA1
HP_INTEROSSEUS_MUSCLE_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTEROSSEUS_MUSCLE_ATROPHY	REEP1	GARS1	TOR1AIP1	BSCL2	SLC5A6
HP_PERIPHERAL_HYPOMYELINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_HYPOMYELINATION	FIG4	KCNJ10	SOX10	HK1	DHX16	FGD4	CTDP1	EGR2
HP_FOCAL_T2_HYPERINTENSE_BASAL_GANGLIA_LESION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_T2_HYPERINTENSE_BASAL_GANGLIA_LESION	PET100	NDUFV2	NDUFAF2	NDUFS2	NDUFA9	MT-ND2	NDUFS1	NDUFAF6	PDE10A	LIPT1	COQ2	GFAP	MT-TW	FOXRED1	TACO1	SPG11	MT-ND1	PRNP	NDUFS7	MT-TL1	MT-ND5	PDSS2	MT-ND6	NDUFV1	MT-ND3	SUCLG1	MT-ATP6	NDUFA10	NDUFS4	NDUFA13	SDHA	MT-ND4	SLC19A3	LRPPRC	PDHA1	MECR	ALG2	COX15	ECHS1	SURF1	NDUFA2	MT-TV	NDUFAF5	NDUFS8	NDUFS3	MT-TK	ETHE1	NDUFA12	MTFMT	NDUFA4
HP_LOSS_OF_CONSCIOUSNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOSS_OF_CONSCIOUSNESS	ACADM	TICAM1	KCNQ1	NAGS	CPT1A	TBK1	NOTCH3	KCNJ11	NOTCH2NLC	GLYCTK	GK	GCDH	ABCC8	SLC19A3	RNU4ATAC	UPB1	NAB2	UCP2	STAT6	TRAF3	MTRR	TLR3	HNF1A	UNC93B1	ADORA2A	KCNE1	MT-CYB
HP_NEURONAL_LOSS_IN_THE_CEREBRAL_CORTEX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEURONAL_LOSS_IN_THE_CEREBRAL_CORTEX	C9orf72	VCP	TARDBP	TBK1	CHCHD10	PC	FUS	SQSTM1	PIGA
HP_PROGRESSIVE_SPASTIC_PARAPARESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_SPASTIC_PARAPARESIS	GALC	ABCD1	SPG7	FA2H	TBCE	SELENOI	CPT1C
HP_DIFFUSE_WHITE_MATTER_ABNORMALITIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFUSE_WHITE_MATTER_ABNORMALITIES	KCNA1	PLEKHG2	PIGP	NDUFS2	SLC12A6	TRIM8	SCN1B	POMK	HTRA1	NEUROD2	VPS11	NDUFB8	TIMM50	SLC25A22	SURF1	CASK	CDKL5	POMT2	OSTM1	SCO2	HERC1	NDUFAF3	SCN2A	RIN2	GNAO1	PIGQ	FKRP	GRM7	ARX	GMPPB	PLP1	GLB1	HEPACAM	DMXL2	GRIN1	POMT1	SIK1	PNKP	POMGNT1
HP_HEMIMEGALENCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMIMEGALENCEPHALY	NPRL2	MTOR	TSC1	DEPDC5	HRAS	NRAS	AKT3	KRAS	IFNG	TSC2	PIK3CA	PTEN	NPRL3	SMO
HP_PHOTOSENSITIVE_TONIC_CLONIC_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHOTOSENSITIVE_TONIC_CLONIC_SEIZURE	PCDH19	CACNB4	SCN2A	SCN9A	GABRG2	EFHC1	CLCN2	GABRA1	SLC9A6	CILK1	JRK	SCN1B	SCN1A	KCNQ3	GABRD
HP_FACIAL_PARALYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_PARALYSIS	CLCN7	PRRT2	TNFSF11	MTRFR	TCIRG1	CACNA1A	NFU1	SH3TC2	SCN1A	ATP1A2	COL4A1
HP_LOWER_LIMB_AMYOTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_LIMB_AMYOTROPHY	ATL1	FLRT1	MYPN	SLC33A1	ADSS1	GJB1	DYSF	CUL4B	KY	CPT1C	UBAP1	NOTCH2NLC	KIF1A	MFN2	MYH7	YY1	KIF5A	RYR1	CADM3	HINT1	FGD4	MORC2	AARS1	FARS2	HYCC1	ARSI	BICD2	NEFL	FITM2	TPM2	RTN2	ATXN3	KLC2	SLC12A6	TRPV4	ATAD3A	KRT5	TCAP	FLNC	HSPB1	MAG	KDM5C	NEFH	MTRFR	PDK3	HK1	CYP7B1	GIPC1	ANO5	FBXO38	PMP22	RAB7A	LMNA	TFG	KAT6A	HSPB3	TPM3	GNE	INF2	PLP1	NDRG1	NEXMIF	ALS2	KRT14	FBLN5	BSCL2	VWA1	MT-TE
HP_MACROGYRIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACROGYRIA	POMK	POMT1	NFIX	POMGNT2	ACTB	POMGNT1	CASK	DAG1	B4GAT1	PLP1	PEX2	DHCR24	CRPPA	COL4A1	ACTG1	FKRP	LARGE1	RXYLT1	POMT2	FKTN	B3GALNT2
HP_INTRACEREBRAL_PERIVENTRICULAR_CALCIFICATIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRACEREBRAL_PERIVENTRICULAR_CALCIFICATIONS	SNORD118	IFIH1	CPT2	SLC2A1	TREX1
HP_DECREASED_DISTAL_SENSORY_NERVE_ACTION_POTENTIAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_DISTAL_SENSORY_NERVE_ACTION_POTENTIAL	SBF2	NEFL	TRPV4	RFC1	LITAF	GDAP1	HK1	MPV17	MORC2
HP_PROGRESSIVE_GAIT_ATAXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_GAIT_ATAXIA	TWNK	SPTBN2	ANO10	ALDH18A1	POLG	SCN2A	PRRT2	SCN9A	UBE3A	PSAP	EEF2	SETX	ATXN3	SACS	ATP13A2	SCN1A	MT-ATP6	ARSA	ATP1A2	PCDH19	TPP1	MTPAP	GABRG2	CACNA1A	FA2H	SNRPN	GABRA1	GJB1	SCN1B	PEX10
HP_ABNORMAL_PYRAMIDAL_SIGN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PYRAMIDAL_SIGN	PMS1	TSEN2	PNPLA6	SPG7	SLC20A2	EEF2	HSPD1	HTT	PI4KA	SETX	PRSS12	TBP	UGDH	MFN2	SAMD9L	SLC2A1	SNCA	PDYN	GAN	ALS2	DNAJC3	RNASEH2C	SPG11	FARS2	CYP2U1	OPA1	TLR4	PNPT1	NKX6-2	RTN2	SNORD118	COQ8A	ALDH18A1	NIPA1	MORC2	PGAP1	PLP1	PEX10	ATL1	SYNE1	DDHD1	SLC25A15	MSH2	SLC25A46	LETM1	KLC2	MECP2	ATP13A2	CWF19L1	CAMTA1	GRM1	TPP1	KCNC3	SCN1A	VCP	COQ2	ADGRG1	AP2M1	RNASEH2B	GFM2	KPNA3	KIF1A	CHMP2B	VAPB	CPT1C	LMNB1	NT5C2	RUSC2	MECR	WASHC5	GFAP	NDUFA13	PDGFB	TSEN54	GLRX5	ATP6AP2	GMPPB	C9orf72	AIMP1	CYP27A1	GTF2E2	POMGNT1	NAGA	KDM5C	DEGS1	TMEM106B	FBXO7	COA8	DDHD2	CYP7B1	NALCN	ABHD12	RNASEH1	EIF2S3	POU4F1	PET117	MTTP	IMPDH2	LIG3	NOP56	CTDP1	BICD2	GJB1	BSCL2	POMT1	IL12A-AS1	SLC1A3	DNMT1	PHYH	GBA2	DLAT	GBE1	ATP7A	SLC16A2	DNAJC6	IREB2	MAPT	CHD2	MCOLN1	VAMP1	TTPA	ARSA	PLA2G6	RTTN	ASPA	TOR1A	HLA-B	FA2H	AP4B1	TSEN15	COX20	TMEM63C	EPRS1	TGM6	PANK2	CLPB	PTEN	ABCB7	MYORG	TBC1D20	VPS13D	PSAP	PSEN1	HTRA1	PIGA	CACNA1G	HEXB	SACS	TBC1D24	STUB1	FXN	AP4S1	POLG	ERLIN2	MTRFR	MSH6	APOE	TSEN34	SPAST	GJC2	ATXN10	LSM11	NR4A2	PIGT	OPA3	ATXN1	GPT2	COL4A1	MT-TE	CCT5	DSTYK	ATP1A2	NDE1	DARS2	SLC6A3	BCAT2	JAM2	UBAP1	MAN2B1	SDHAF1	ALDH3A2	CTSF	SLC19A3	POLR3A	SIGMAR1	MDH2	FGF13	BMPR1A	KIF5A	SEMA4A	NFASC	ERCC6	C19orf12	NEFL	KLRC4	CAPN1	CARS1	TWNK	PDGFRB	PRICKLE1	PPP2R2B	SDHD	AP4E1	SDHA	WWOX	DPYS	ATXN3	SPART	AMPD2	HADHA	B4GALNT1	SOX10	CNTNAP1	VPS13C	CHCHD10	ACOX1	SYNJ1	SYNGAP1	PMP22	FTL	SLC1A2	LYRM7	ETHE1	SLC33A1	KCNA1	ATXN8OS	NDUFS7	RFC1	AFG3L2	FUS	HPDL	IL10	PEX7	SLC44A1	RNF170	DPM3	RNU7-1	MT-ATP6	TIMM8A	IDUA	TTBK2	SCN1B	UCHL1	THG1L	MAG	STAT4	NEFH	NDUFS4	UBTF	ATP1A3	RORA	FAN1	PODXL	POLR3B	PRKRA	KARS1	SHMT2	ADAR	DKK1	MTPAP	GM2A	IRF4	NUP62	KRAS	TREM2	CNP	SNX14	GTF2H5	GRIA3	SOD1	ERAP1	PCYT2	ELOVL1	NDUFS2	MPZ	NEXMIF	SPG21	KY	NDUFA4	MLH1	ZFYVE27	AIFM1	ABCD1	IBA57	MPLKIP	TACO1	IFNGR1	SLC39A14	ADD3	PRPS1	ATXN2	TH	DDC	VWA3B	PYCR2	SLC1A4	PIK3CA	ZFYVE26	TTC19	ELOVL4	BRAT1	ALG13	PLAA	TREX1	DMXL2	SLC12A5	DARS1	VPS41	TAF2	ERCC3	AARS1	TANGO2	KIF1C	RNASEH2A	DTYMK	REEP1	CAV1	FKRP	SDHB	C4A	L2HGDH	PIK3R5	TRMT5	TARDBP	IL12A	ZFR	SQSTM1	MTFMT	AP4M1	GRID2	IL23R	TARS1	ERLIN1	IRF2BPL	MEFV	EIF2AK2	BCAP31	DNM1L	NUBPL	GCH1	RRM2B	EPCAM	RPS20	ATXN7	CTC1	SELENOI	ATG5	TMEM63A	ARX	PARS2	GALC	ERCC2	TGFBR2	CLDN11	RNF113A	FAR1	NDUFS1	POMK	PMS2	CCR1	TBK1	REEP2	CACNA1A	KMT2B	HYCC1	PRNP	IFIH1	SLC2A3	ANXA11	CHP1	PEX16	MLH3	SAMHD1	HADHB	TSPOAP1	ABHD16A	AAAS	UBAC2	POMT2	TFG	TYROBP	ADPRS	KCNA4	LARGE1	SLC6A1	ACADS	SEPSECS	FAS	FUCA1
HP_SEVERE_DEMYELINATION_OF_THE_WHITE_MATTER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_DEMYELINATION_OF_THE_WHITE_MATTER	PYCR2	L2HGDH	MMACHC	TRMT10A	PIGG	PRPS1	PPP1R15B
HP_TYPE_II_LISSENCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPE_II_LISSENCEPHALY	LAMB1	POMT1	RXYLT1	POMK	TUBB3	TMTC3	POMGNT1	FKRP	POMT2	FKTN	LARGE1	B3GALNT2	B4GAT1	POMGNT2	GMPPB	CRPPA
HP_CEREBRAL_DYSMYELINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_DYSMYELINATION	PTEN	CARS1	SOX10	ERCC3	ERCC2	ADGRG1	TARS1	CTSK	PSAP	RNF113A	HSD17B4	GTF2H5	PLP1	ABCD1	MCOLN1	PHGDH	GTF2E2	MPLKIP
HP_CHRONIC_AXONAL_NEUROPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_AXONAL_NEUROPATHY	COG8	SPTLC1	SETX	SYNE1	GDAP1	KCNJ10	HSPB1
HP_SPINAL_MUSCULAR_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPINAL_MUSCULAR_ATROPHY	ATP7A	EXOSC8	IGHMBP2	TRPV4	SMN1	KCNK9	FBXO38	TBCE	SMN2	MORC2	VAPB	ASCC1	SIGMAR1	PLEKHG5	DNAJB2	ASAH1	CHCHD10	BICD2	TK2	UBA1	DYNC1H1	TRIP4	VRK1
HP_ATYPICAL_ABSENCE_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATYPICAL_ABSENCE_SEIZURE	TRIM8	SCN2A	EPM2A	SCN9A	GRIN2A	CACNB4	UBE3A	NHLRC1	CEP85L	CUX2	AP2M1	MAPK10	KCNMA1	KCNB1	PCDH19	GABRB3	SCN1A	ZEB2	DNM1	CACNA1A	GABRG2	HNRNPU	CLPB	SRPX2	KCNT2	GABRA1	FRRS1L	SCN1B	PAFAH1B1	CHD2	PPP3CA
HP_OCCIPITAL_MYELOMENINGOCELE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCCIPITAL_MYELOMENINGOCELE	JMJD1C	HIRA	TBX1	COMT	UFD1	SEC24C	INPP5E	GP1BB	ARVCF	RREB1
HP_PROGRESSIVE_PSYCHOMOTOR_DETERIORATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_PSYCHOMOTOR_DETERIORATION	SDHA	GLB1	ARSA	PSAP	SDHD	HEXB	CYP27A1	SDHB	BSCL2	SDHAF1	PMPCA	KCTD7
HP_DEVELOPMENTAL_STAGNATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVELOPMENTAL_STAGNATION	POLR2A	ZNHIT3	NUP62	PHGDH	ACER3	GLB1	PTPN23	ACAN	GABBR2	KIF5A	RARS1	CDKL5	VPS11	MCOLN1	MECP2	SCN1B	ST3GAL5	NTNG1	SMC1A	SATB1
HP_LIMB_FASCICULATIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_FASCICULATIONS	TFG	VCP	ATXN10	SMN1	SMN2	HINT1	HSPB1
HP_POSTERIOR_FOSSA_CYST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_FOSSA_CYST	ABAT	LARGE1	POMT1	FGFR2	FKTN	GDF6	WASHC5	PLCH1	CSPP1	VSX1	SNORD118	POMT2	PUF60	ERCC5	FKRP	DPH1
HP_OROMOTOR_APRAXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OROMOTOR_APRAXIA	DISP1	SHH	FOXH1	FGFR1	ZIC2	FGF8	TDGF1	TUBB2B	STIL	ADGRG1	VPS11	PLCH1	DLL1	SRPX2	GAS1	PTCH1	TGIF1	NODAL	GLI2	CDON	CLTC	DDOST	STAG2	SMC1A	SIX3	FOXP1	PI4KA	FOXP2
HP_BIPOLAR_AFFECTIVE_DISORDER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIPOLAR_AFFECTIVE_DISORDER	RRM2B	MT-ND4	MT-ND6	MT-ND5	SEC24C	SLC25A4	MT-TH	SMPD1	GP1BB	MT-TL1	ARVCF	GRIA1	DNMT3A	CLCN4	CEP85L	PDGFRB	JMJD1C	POLG2	FLI1	RPS6KA3	MT-CO2	CHRNA7	RREB1	MT-TS2	HIRA	TBX1	TWNK	MT-CO3	FA2H	VPS16	MT-CO1	MECP2	MT-TW	POLG	MT-TF	COMT	TBCK	MT-TQ	UFD1	ATP2A2	MT-ND1
HP_CNS_DEMYELINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CNS_DEMYELINATION	LRPPRC	ADAT3	PYCR2	PRPS1	ASPA	MMACHC	GALC	ERCC6	GFAP	HLA-DRB1	RERE	CYP27A1	HLA-DQB1	PIGG	NDUFAF4	PDYN	PPP1R15B	ABCD1	PRF1	CSF1R	ERCC8	ERCC1	TREX1	EIF2B1	L2HGDH	ALDH3A2	MTTP	PSAP	EIF2B4	MAT1A	EIF2B2	PPFIBP1	INSR	HTRA1	EIF2B3	EIF2B5	ATXN2	PEX19	PDCD1	SUMF1	ACOX1	TREM2	TRMT10A	TNR
HP_EXTRAPYRAMIDAL_DYSKINESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXTRAPYRAMIDAL_DYSKINESIA	TSEN54	TSEN2	ACAT1	C9orf72	DPYS	SLC2A1
HP_SHORT_STEPPED_SHUFFLING_GAIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_STEPPED_SHUFFLING_GAIT	ATXN8OS	COL2A1	GLUD2	MAPT	NR4A2	ATXN2	PRKAR1B	SYNJ1	DCTN1	MT-TT	TBP	ADH1C	SNCAIP	DNAJC6	PODXL	GBA1	TRPV4
HP_GENERALIZED_DYSTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_DYSTONIA	MRPS25	JAM2	TSPOAP1	FA2H	LRPPRC	AOPEP	THAP1	PRKRA	KMT2B	HPCA	PANK2	TOR1A	GCH1	C19orf12	ACTB	SLC39A14	IMPDH2	SUOX	VPS41	NR4A2	DLAT	TIMM8A	NDUFAF6	TH	ALS2	TUBB4A	PLP1	NAXD	TNR
HP_MIXED_DEMYELINATING_AND_AXONAL_POLYNEUROPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MIXED_DEMYELINATING_AND_AXONAL_POLYNEUROPATHY	MT-ND4	MT-TS2	MT-ND6	MT-ND5	NEFL	MT-CO3	MT-TH	MT-CO1	MT-TL1	MT-TW	MT-TF	MT-TQ	ATP7B	MT-CO2	MORC2	MT-ND1
HP_IMPAIRED_PAIN_SENSATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_PAIN_SENSATION	HNRNPK	NPAP1	MPZ	CDKL5	IGF2	SCN11A	IARS2	ATL3	GJB1	SNORD115-1	GABBR2	NGF	NGLY1	LIFR	DEAF1	NEFL	UBTF	SCN9A	MFN2	MKRN3	NTNG1	PWRN1	NTRK1	SPTLC2	MAGEL2	IQSEC2	SHANK3	GDAP1	PNPT1	HDAC4	CHAMP1	SNORD116-1	PWAR1	AIFM1	FLII	HARS1	PMP2	TDP1	MPV17	ABCA1	DDHD1	HSPB1	KDM5C	MADD	TRIO	VCP	HK1	SH3TC2	EBF3	SORD	RAI1	PRDM12	KCNQ1OT1	TMEM218	DNM1L	ZEB2	SMC1A	ELP1	CCT5	HERC2	FBN1	MCM3AP	JAG1	CLTCL1	LMX1B	PRPS1	PMP22	SPTLC1	ATXN1	MECP2	GRIA3	H19	ATL1	PDK3	ZFHX2
HP_HYPOPLASIA_OF_THE_FRONTAL_LOBES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_FRONTAL_LOBES	TAF13	METTL5	CENPJ	STIL	COPB2	ASPM	SASS6	KIF14	CDK6	BRAF	SLC35C1	ARHGEF9	RNU4ATAC	KNL1	FIG4	DHCR7	PHC1	RTTN	MFSD2A	TRAPPC10	CEP63	MCM7	WDR62	NCAPD3	PYCR2	CEP152	FDXR	MCPH1	CDK5RAP2	CEP135	VAC14	CIT	TRAPPC14	MBD5	ANKLE2	DPM1
HP_BILATERAL_TONIC_CLONIC_SEIZURE_WITH_FOCAL_ONSET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_TONIC_CLONIC_SEIZURE_WITH_FOCAL_ONSET	ATP1A2	SCN2A	TRIM8	PPFIBP1	EPM2A	GRIN2A	NHLRC1	CNTNAP2	CEP85L	SLC38A3	PRRT2	RELN	KCNB1	PUS3	COQ2	LGI1	KCNQ2	MICAL1	KCNJ11	SLC22A5	DEPDC5	KCTD7	PSAP	GAL	GABRG2	SRPX2	KDM6A	KMT2D	KCNQ3	SLC12A5	KCNMA1	PDSS2	SCN8A	ADAM22
HP_HYPERMETRIC_SACCADES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERMETRIC_SACCADES	ANO10	VPS41	KCNN2	GRM1	ATXN1	VPS13D	XRCC1	GDAP2	TMEM240	TPP1	PRDX3
HP_LOWER_LIMB_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_LIMB_MUSCLE_WEAKNESS	CHCHD10	PNKP	TFG	PNPLA6	SLC33A1	SMARCE1	FHL1	SPART	GNE	HSPD1	MATR3	PI4KA	MTMR14	KIF1A	MFN2	KIF5A	CHRNA1	RNF170	SPG11	NEFL	PLEC	TPM2	RTN2	MT-ATP6	EXTL3	EGR2	MT-CO3	COL13A1	NIPA1	SLC12A6	PMP2	DGUOK	ATL1	SYNE1	DDHD1	MME	TRPV4	NEFH	ASAH1	SORD	SMO	FBXO38	BSCL2	ADAR	DYSF	RAB7A	REEP1	NUP62	PMP22	SLC5A7	SPTLC2	NDRG1	PDGFB	DNM2	SPAST	JAG2	GBA2	SBF2	NF1	CRPPA	MPZ	KPNA3	HSPB8	SPG21	CPT1C	VAMP1	ZFYVE27	WASHC5	MYH7	FGD4	SBF1	BAP1	AP5Z1	ERGIC1	SCYL1	AKT1	GARS1	DCTN1	PHKA1	CYP27A1	MAPT	ZFYVE26	CCND1	PRNP	PRX	NF2	PDK3	CAPN3	VCP	HK1	DDHD2	RASA1	CYP7B1	ANO5	GNB1	MTTP	HSPB1	SPG7	BICD2	GJB1	FBLN5	MYO9A	VWA1	GYG1	PRORP	MYH14	MYPN	NOTCH2NLC	SCO2	DES	MORC2	SLC18A3	PIK3CA	TERT	AARS1	SMARCB1	IBA57	CAV1	SMN1	LMNA	L1CAM	TTN	ABCD1	LIPE	MTRFR	FLI1	SLC25A1	CHAT	KCNJ18	CACNA1S	GIPC1	LPIN1	SECISBP2	SMN2	ERLIN2	SMPX	HSPB3	GMPPB	FLNC	SARDH	SNAP25	AFG3L2	DSTYK	PLP1	VHL	GALC	ADSS1	UBAP1	PIEZO2	TRAF7	SUFU	HINT1	AGRN	SCYL2	HYCC1	COL25A1	HARS1	TDP1	DHTKD1	TCAP	ATP5MC3	HADHB	CAPN1	EMILIN1	MRPS2	KCNJ10	HADHA	SYT2	TPM3	SLC5A6	MT-CO1	MTHFR	GABRA3	GDAP1
HP_ABNORMAL_MORPHOLOGY_OF_THE_LIMBIC_SYSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_THE_LIMBIC_SYSTEM	SCN2A	ZEB2	CARS2	KDM4B	NEK1	NDE1	CAMTA1	ATP1A3	NR2F1	CPA6	CEP85L	PCDH19	TBC1D24	MACF1	TUBA1A	CNTN2	SCN1A	SLC35A2	ABCA7	DPYSL5	RAD51	VPS51	TCF4	SCN9A	FGFR2	TUBB3	DCC	RNU4ATAC	CPLX1	POU4F1	NTN1	DNAL4	GABRG2	GRM7	CLCN3	BICRA	MTHFD1	GRIN1	GABRA1	SCN1B	VPS13A	OSTM1	CNPY3
HP_ATROPHY_DEGENERATION_INVOLVING_THE_SPINAL_CORD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATROPHY_DEGENERATION_INVOLVING_THE_SPINAL_CORD	TWNK	ALDH18A1	LMNB1	POLG	DNAJC3	MMACHC	PNPLA6	SPG11	FXN	NEFL	SPG7	LYST	FA2H	PI4KA	SETX	GFAP	CYP7B1	ABCD1	CCT5	MTHFR	MORC2
HP_HYPERREFLEXIA_IN_UPPER_LIMBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERREFLEXIA_IN_UPPER_LIMBS	ALDH18A1	CAPN1	KPNA3	SDHD	REEP1	FAR1	HSPD1	UBAP1	ABCC9	SDHAF1	ERLIN2	KIF5A	SDHA	SPG11	CYP2U1	FTL	ATP13A2	SPTLC2	RTN2	VPS37A	SDHB	SPAST	TNR
HP_UPPER_LIMB_POSTURAL_TREMOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_LIMB_POSTURAL_TREMOR	LMNB1	TUBB4A	ANO3	ITPR1	MPZ	PMP22	CACNA1G	PLA2G6	CARS2	COL6A3
HP_CEREBELLAR_CALCIFICATIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBELLAR_CALCIFICATIONS	PDGFB	ERCC6	PDGFRB	ERCC8	SNORD118	SLC20A2	JAM2	TREX1
HP_AMYOTROPHIC_LATERAL_SCLEROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMYOTROPHIC_LATERAL_SCLEROSIS	FIG4	TUBA4A	MATR3	OPTN	NEK1	VCP	CCNF	ERBB4	CYLD	VAPB	SIGMAR1	NEFH	DCTN1	TARDBP	PFN1	MAPT	SPTLC1	ALS2	PON2	CFAP410	ANG	TBK1	UNC13A	SOD1	ATXN2	FUS	PRPH	SPG11	CHCHD10	PPARGC1A	SETX	C9orf72	HNRNPA2B1	PSEN1	DAO	TRPM7	KIF5A	ANXA11	GLT8D1	UBQLN2	TREM2	HNRNPA1	PON3	SQSTM1	TAF15	GLE1	TIA1	EPHA4	PON1	CHMP2B
HP_FOCAL_ONSET_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_ONSET_SEIZURE	SCN2A	MT-ND4	SCN1A	DEPDC5	SMARCE1	GABRA3	SZT2	NACC1	HTT	TREX1	GRIA2	TMTC3	KCNQ5	PURA	PSAP	ALDH7A1	FBXO28	CNTN2	SETD2	EXTL3	DPYD	TSC2	STX1B	AP3D1	DPYSL5	SPATA5L1	ATP1A2	CYP26C1	TRIM8	EPM2A	SCN9A	SRPX2	GLI3	MT-TL1	FMN2	ARFGEF2	SMO	YEATS2	PUS3	ZEB2	CAMTA1	KCNQ3	NCDN	GABRD	EXOC7	GRIN1	AP2M1	SLC35A3	GRIN2A	PRRT2	CARS2	GAMT	VPS11	GABRA5	KCNB1	WARS2	FIG4	LGI1	CPA6	KCTD7	AMACR	VAMP2	BAP1	CABP4	GABRA1	PIGQ	MACF1	FA2H	NDUFAF6	DMXL2	PIK3CA	UFSP2	APC2	NPRL2	MT-ND6	KCNA1	NF2	SMARCAL1	CTNND2	RELN	KCNT1	GNB1	CPLX1	POU4F1	MICAL1	KCNJ11	MT-TS2	ATP6V1B2	SUPT16H	CDH2	POLG	MAP1B	ARF1	SIK1	MT-TQ	SCN1B	PDE2A	SLC1A3	CDKL5	MT-ND5	SLC25A22	CIC	SPTBN1	SLC38A3	ADRA2B	CHD2	TBC1D24	GNB2	GALNT2	SMARCB1	HID1	GRM7	WDR45B	KMT2D	POGZ	PCDH19	GABRG2	PACS1	TBK1	CLCNKB	NSD1	SMS	MAPK10	AP4S1	GABRB3	MARCHF6	TRAF3	MYT1L	MTOR	CLCN3	COL4A1	CACNA1A	SCN8A	CNPY3	CACNA1D	STRADA	SDHAF1	PLCB1	TRAF7	COQ2	CASK	KCNC2	SLC22A5	CRH	MDH2	PEX3	FGF13	CLN6	MT-TF	ATP6V0A1	PDSS2	ERMARD	YWHAG	NPRL3	NFU1	SDHD	PIGP	HCN1	SYNGAP1	SLC1A2	UNC93B1	VARS1	KCNMA1	PPP3CA	SLC12A3	VPS35L	PHGDH	TUBB2B	GLYCTK	KCNK4	POLRMT	GJC2	AFF3	PLPBP	SYN1	GAL	CHRNA4	CSF1R	NECAP1	PPIL1	KDM6A	GABBR2	ADAM22	SATB1	VARS2	ACO2	TSC1	MT-TH	CLN8	ATP1A3	GRIA3	AKT3	TMEM231	PI4KA	DNM1L	NARS1	DNM1	KCNQ2	PTPN23	TMEM94	GNAO1	IFNG	CLCN4	PDGFB	SAMD12	FRRS1L	GRIN2B	DPAGT1	CLN5	TICAM1	CHRNB2	PCYT2	COL4A2	SEC31A	NEXMIF	CNTNAP2	SLC25A10	NR4A2	NGLY1	LAMA2	SMC1A	AKT1	EN1	ARX	SNORD118	ADGRV1	HACE1	CLN3	PPFIBP1	NHLRC1	TUBB3	CUX2	BRAT1	TFE3	CHRNA2	SLC12A5	HHAT	NUS1	SLC2A1	ADGRG1	NEDD4L	TANGO2	RARS1	SCN3A	DYNC1H1	TERT	TLR3	POLR3A	NBEA	TUBA1A	H4C5	DOCK7	MT-CO1	SLC13A5	SDHB	CACNA1C	PNPLA8	DOLK	RPL10	METTL23	ARHGEF9	ATXN10	CDC40	LRP5	MBOAT7	LGI4	PYCR2	GRIK2	CAMK2B	SUFU	KANSL1	MT-CO2	TGFB1	SDHA	OPHN1	ITPR1	FLNA	CRIPT	ZNFX1	BTD	NF1	PPP2R5D	COPB1	NEUROD2	CEP85L	DCX	PIGS	GNAI1	ADPRS	MT-CO3	ACSF3	MT-TW	SLC6A1	FAR1	TBCK	FBP2	PAFAH1B1	MTHFR	PNKP	MT-ND1
HP_APLASIA_HYPOPLASIA_OF_THE_CEREBELLUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_CEREBELLUM	AMPD2	PIGN	CEP290	TSEN2	ADGRV1	PCLO	MEF2C	SEMA3E	VLDLR	TMCO1	CPLANE1	RPGRIP1	GPC4	OTX2	HYLS1	CPT2	FKTN	B9D2	KIAA0753	ZIC1	B3GALNT2	OXR1	BMP4	SMARCB1	ASXL3	DYNC2I1	WASHC5	B4GAT1	SMARCE1	SETD2	MT-TK	FAR1	FKRP	PGAP1	WDR35	FLVCR2	DPYSL5	ASXL1	IQCB1	ATP6V1A	PLG	NSD2	VPS51	RNF113A	ARL3	ACD	DHCR7	DPM2	MFSD2A	ZNF592	PDHB	GLI3	MYO7A	CBY1	FOXC1	SMARCA4	PSAT1	ATP2B3	ESPN	LETM1	ZIC3	TAPT1	L2HGDH	TMEM67	MBTPS2	ZEB2	CWF19L1	WAC	CAMTA1	GRM1	GPX4	POMK	TMEM237	SLC25A1	SUOX	RTEL1	RBM10	SMC1A	CSPP1	TINF2	TMEM138	TAF1	HNRNPR	DAG1	EXOC7	POMT2	FDXR	NFIX	ARID1B	TCTN1	PRDM13	MUSK	RDH12	TUBA1A	ADGRG1	KRAS	CRB1	GFM2	POLR3A	ASPM	POMT1	DYNC2H1	TOPORS	PMPCA	VPS4A	ERCC5	EXOSC9	KMT2C	RPS6KA3	LARGE1	TRIP13	NDP	DPH1	EOMES	WARS2	KIDINS220	TMEM218	ATP6V0A2	TSEN54	INTS8	MACF1	PACS1	MKS1	SRD5A3	GMPPB	C2CD3	SLC1A3	NPHP3	ARNT2	CC2D2A	KIF7	MAN1B1	KIAA0586	NCAPG2	UFSP2	DPH5	POMGNT1	SOX3	APC2	NAGA	ARID1A	COG1	CEP41	CDC42	TMTC3	ATN1	GPSM2	EBF3	COL4A1	INPP5K	TCTN2	ATR	ACY1	POU4F1	SUFU	LMNB1	ATP6V1B2	WDR81	POMGNT2	USH1G	MINPP1	COASY	TERT	ASNS	EBP	EVC2	MRE11	FIG4	PRKDC	ZNF335	TUBB	TUBB2B	RELN	TRRAP	CEP120	SMARCD1	MID1	RXYLT1	PPP1CB	CRPPA	ZBTB11	LCA5	FTO	PDE6D	NRAS	L1CAM	RAD21	ERF	PCGF2	BUB3	GPAA1	RERE	SRPX2	ERMARD	FANCB	AP1S2	AGTPBP1	KCNJ13	TMEM216	RTTN	CHD7	TSEN15	TCTN3	TUBGCP4	CDKN1C	MT-TL1	ARHGEF2	FRMD4A	ALG12	MAP2K2	OFD1	PTEN	EPG5	ATP6V0A1	DHFR	THOC2	EXOC2	GOT2	RAC1	INPP5E	SLC9A6	NSD1	SEMA6B	ZNF423	MARS2	CENPF	TULP1	GPC3	MTHFR	CCDC32	ERCC6	TSEN34	CENPE	PTRH2	TOE1	B4GALT1	PI4KA	ATP5F1A	TNPO2	PIGT	CCDC22	VPS13B	MAPK8IP3	TRMT10A	VAC14	NDE1	MTM1	PARN	ERCC1	LAMB1	SLC35A2	LRAT	DOK7	WHRN	PCDH15	ATAD3A	KNL1	RPGRIP1L	CASK	PIGG	DCHS1	SON	SIL1	WDR26	STAG2	KIF14	ALX4	ARSI	HRAS	DISC1	ROBO3	RAB3GAP2	EXOSC1	SOX11	LRRC32	LAMA1	AHI1	EXOSC8	COQ4	EZH2	FGFR1	NDUFA6	BRF1	RAB3GAP1	NONO	ATXN2	TRAPPC9	HNRNPH1	STUB1	CILK1	EHMT1	WDR73	PTF1A	KCNQ1OT1	BUB1	VPS35L	BRD4	PCYT1A	KATNIP	TP53RK	CPSF3	RPL10	CLCN3	SACS	PAFAH1B1	CARS2	AFF3	AIPL1	MYMX	VRK1	ATCAY	HDAC6	SPATA7	TXNDC15	MYOD1	CSF1R	GPKOW	PLCH1	TMEM107	RHOBTB2	PPIL1	CEP164	TKFC	RAB18	MBD5	DMXL2	ELN	SMG9	THG1L	PIBF1	ARMC9	VARS2	HDAC8	RPE65	CDK5	SLC25A46	RORA	GJB2	OCLN	BUB1B	TMEM231	PMM2	PIK3CA	IFT80	SMPD4	CPLX1	FANCL	SNX14	GRIA3	FGFR3	PROKR2	BICD2	DPAGT1	FLNA	TBC1D20	CHMP1A	FAT4	YME1L1	RARS2	FGFR2	PPP1R21	GPHN	MAPKAPK5	MYMK	CDH23	GTPBP2	SLC25A19	USH1C	NUP88	PPP1R15B	IFT140	RAB11B	TUBB3	EN1	ATG7	RD3	AHCY	DKC1	GEMIN4	PPFIBP1	PRRX1	ARL13B	IGF2	OPHN1	ALG3	BLTP1	IFT172	CEP104	PLK4	IMPDH1	TUBB4B	DYNC2I2	MLXIPL	TUBGCP6	SAMD9L	B9D1	DOCK6	SMARCC2	MSTO1	PHGDH	NPHP1	TFAP2A	USP45	CEP55	MPL	NELFA	TERC	ALG6	CIT	KCNQ1	HHAT	EVC	STAT2	TBC1D24	ZNF292	CDC42BPB	MT-TE	CEP57	ATP6V1E1	DYNC1H1	IER3IP1	ERCC2	CEP85L	DENND5A	MYO5A	CACNA1G	TOGARAM1	NUP37	PPP2R1A	SOX4	EXOSC3	NSRP1	HESX1	RBM8A	H3-3A	SOX2	MAN2C1	ITPR1	SMC3	CDC40	HERC1	NEK1	SASS6	INTS1	ATG5	CIB2	SLC25A24	PIEZO2	AFG3L2	HNRNPH2	TWIST1	SIX3	GJB6	ARID2	ABAT	GDF6	GJA1	MICOS13	GUCY2D	MVK	VANGL2	BCOR	CTNNA2	NIPBL	PIGA	NMNAT1	USP9X	DHX37	RBBP8	MAST1	SYT2	TBCK	DPF2	SLC18A3	USH2A	COL3A1	PIGU	MDH1	CRX	WLS	JAM3	ESCO2	MAB21L1	OTUD5	RNU4ATAC	RAPSN	FAM149B1	SHQ1	PDZD7	USP18	PLP1	CTBP1	WNT1	NODAL	SEPSECS	ROGDI
HP_ABNORMAL_PONS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PONS_MORPHOLOGY	AMPD2	CEP290	FGF8	TSEN2	PCLO	TUBB2B	DLL1	CLCN3	FA2H	SACS	TRAPPC12	AGTPBP1	VRK1	ZIC1	RTTN	CCDC88C	B3GALNT2	TSEN54	TSEN15	IDH1	FKRP	DOCK7	PPIL1	ARHGEF2	POGZ	PPP2R1A	EXOSC3	LARGE1	ATXN8OS	VPS51	PTEN	ARL3	EPG5	FLI1	INPP5E	CSPP1	SLC25A46	TMEM216	RORA	GMPPB	SIX3	TMEM67	MINPP1	LAMA1	PMM2	TSEN34	SMARCA2	TOE1	PI4KA	STIL	SNX14	APC2	CDON	DPM1	TUBA1A	TGIF1	SLC5A6	EXOSC8	ADGRG1	DCC	GALC	VPS4A	POMT1	EXOSC9	SETX	POMK	GPHN	FOXH1	UBE2A	POMT2	PTCH1	LAMA2	BRF1	TDGF1	TUBB3	RERE	PIGA	NODAL	MACF1	CLTC	CASK	ROBO3	KIAA0586	DISP1	AHCY	EXOSC1	POMGNT1	AHI1	MDH1	ALG3	MAB21L1	MED23	ATXN2	PRDM13	PIGS	GLI2	STUB1	ASNS	ZIC2	NPHP1	RELN	WNT1	DAG1	SEPSECS	GAS1	SHH
HP_ATROPHY_DEGENERATION_AFFECTING_THE_BRAINSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATROPHY_DEGENERATION_AFFECTING_THE_BRAINSTEM	GFM2	DEGS1	DNMT1	COG5	RARS2	ATP6V0A1	DNAJC3	CACNA1G	ECHS1	CERS1	FA2H	TBP	ATP1A3	KIF1A	PRDX3	LMNB1	TWNK	DNM1L	TBCD	ATXN1	FARS2	SPTAN1	SLC35A2	OPA1	TRRAP	TRAPPC6B	COG8	ZNHIT3	DNAJC19	SYNE1
HP_ATROPHY_DEGENERATION_AFFECTING_THE_CENTRAL_NERVOUS_SYSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATROPHY_DEGENERATION_AFFECTING_THE_CENTRAL_NERVOUS_SYSTEM	AMPD2	MT-ND4	ADGRV1	SPG7	CACNA1E	VPS37D	TRNT1	TMCO1	PI4KA	SPATA5	EEF1A2	MT-ATP6	HECW2	PDHA1	ZBTB20	SIGMAR1	LRP12	NEFH	GRIA2	PDYN	GABRA5	KCNQ5	SERAC1	C9orf72	PURA	RNASEH2C	ALDH7A1	SPG11	BMP4	NEFL	RTN2	SETD2	ALDH18A1	GNPTAB	NIPA1	ALG1	FMR1	PRPH	FAR1	AP3D1	PGAP1	NUS1	IFIH1	PSEN1	VCP	ATP1A2	RNF113A	EPM2A	SCN9A	DNMT1	TCTN3	PLA2G6	MYO7A	TRAK1	ATP8A2	MORC2	SLC39A8	PPT1	NTRK2	PUS3	MBTPS2	COX16	DYRK1A	STAMBP	TINF2	FDXR	SERPINI1	UBA1	SYNGAP1	MFSD8	VPS33A	GUF1	FGFR3	RNASEH2B	SCN1A	TREM2	STAG1	VPS4A	POMT1	ERCC5	CACNA1A	EXOSC9	CARS2	HSD17B4	TMEM106B	CHMP2B	ERBB4	RPS6KA3	CPT1C	PIGN	GLE1	RUSC2	WARS2	YWHAG	CPA6	AARS1	MAPT	GALC	ERCC8	PIGQ	FKBP6	SOD1	AIMP1	NMNAT1	HNRNPA2B1	KIF7	EMX2	ABHD5	DPH5	RNU7-1	COG1	UBA5	ATN1	ANXA11	CYP7B1	KIF1A	CEP126	TDP1	GNB1	BCAS3	POU4F1	GRIA4	CLP1	GRIN1	PON3	USH1G	TPRKB	MOCS1	ZNF335	TRRAP	SCYL2	GABRA2	NDN	SIK1	SCN1B	MAN2B1	FTO	REPS1	EXOSC3	IGHMBP2	RAD21	SOX10	VPS35	SMN1	DLAT	MT-ND5	NUP214	TANGO2	SEPSECS	CAMTA1	MAF	DNAJC6	DHX30	KDM6A	AGTPBP1	GABRD	PFN1	TSEN54	TBK1	SCN3A	TSEN15	NBN	HID1	GRM7	CHAMP1	DDB2	FUCA1	PAFAH1B1	COG2	ALG11	DNAJC13	ABCA7	CLPB	ERCC2	NR4A2	COG5	SLC33A1	FARSB	HIC1	ABCD1	DHFR	TSEN2	TARDBP	ALS2	GOT2	ACTB	SLC9A6	FASTKD2	IBA57	HTRA1	TBC1D24	TREX1	GMPPB	TTC5	OPTN	SURF1	CISD2	CDKL5	SIX3	APOE	TPK1	SPAST	TWNK	LSM11	SQSTM1	WDR45	MAPK8IP3	HCN1	COG7	CCT5	PON1	VAC14	PRNP	BAZ1B	DARS2	PARN	CNPY3	TK2	TUBA4A	SLC35A2	DGUOK	ZMIZ1	TRAF7	PCDH15	CCNF	SORL1	YIF1B	UBAP1	DCTN1	TIMM50	NADK2	CASK	FBLN1	FLI1	CTSF	SON	ATP6V1A	POLR3A	EIF4H	MTRR	DNM1L	GLB1	RBL2	SPTAN1	FGF13	CLN6	SLC13A5	ERCC6	RAB3GAP2	AUH	MMADHC	MT-TF	UNC80	MAGEL2	PSAP	CARS1	PITRM1	DNAJC5	POLR3K	PPP2R2B	AP4E1	ARV1	PRDX1	GBA1	LIAS	ATXN2	ATP6AP2	TRAPPC11	ACD	STUB1	VPS13C	CHCHD10	FZR1	SYNJ1	SNRPN	SLC1A2	TRAPPC9	FADD	LYRM7	PNPO	NDUFA8	IKBKG	BRD4	ASPA	NEK1	TYROBP	CPSF3	GDAP2	MATR3	MMACHC	ITPA	SCN8A	SLC39A4	FA2H	GCDH	SACS	GRN	PRDX3	NECAP1	UNC13A	KCTD7	C19orf12	RAB18	NANS	PRKAR1B	CPLANE1	CSF1R	GPKOW	TIMM8A	ATAD1	SETX	METTL27	ATP1A3	COASY	CNTNAP1	APP	ADAM22	SATB1	COQ2	KIF5A	UFM1	UBTF	MT-TH	DHDDS	CLN8	CCDC47	SLC25A22	ADAR	WDR81	OSTM1	LIPT2	NARS1	GLUD2	GM2A	UQCRC1	FGF12	GNAO1	FTL	PEX1	ADK	CLCN4	GTF2H5	OTUD6B	FRRS1L	MAP2K2	BICD2	GRIN2D	DPAGT1	EXOSC8	POLG	CLN5	EXOSC5	TBC1D20	FH	FIG4	YME1L1	PCYT2	BCL7B	ECHS1	GON7	IDS	CDH23	NCF1	HNF1B	PEX7	SBF1	POLR3B	NAGA	TBP	ATXN1	PIGV	FUS	PPP3CA	KIDINS220	ARX	TRAPPC6B	ACY1	GFM1	TFG	MED27	HACE1	CLN3	HRAS	POMT2	WDR73	TTC19	ELOVL4	FKRP	ALG3	NHLRC1	SNX14	GABRB2	BRAT1	SMG8	ALG13	RNU4ATAC	YRDC	TUBGCP6	DOCK6	MARS2	UGP2	PHGDH	BICRA	MOCS2	PQBP1	HEPACAM	DPYD	TARS2	SLC12A5	ASAH1	NDUFA11	OCA2	CIZ1	TAF2	ERCC3	PSEN2	ATRX	KCNA2	RARS1	NAXE	NOVA2	ST3GAL5	KMT2D	SNCA	OSGEP	RNASEH2A	VPS53	DMPK	DTYMK	MYO5A	RAB3GAP1	ACER3	HSD17B10	MT-CO1	OFD1	TRAPPC2L	PRKCZ	SETBP1	BRAF	VRK1	COQ9	SLC1A4	ADAT3	MAG	H3-3A	AP3B2	CYB5A	DNM1	MED17	PUF60	ALG9	SLC35C1	UBQLN2	B4GALNT1	HNRNPA1	BUD23	GNAQ	NFIX	FARS2	WWOX	CAD	CIB2	PLP1	GRID2	KCNB1	DPM1	CLTC	LONP1	PARS2	OGDHL	SCN2A	WFS1	CWC27	TBL1XR1	JPH3	KIF1C	STXBP1	UBE4B	TGFB1	TTC26	PIGA	DYNC1I2	KCNMA1	ERCC1	ATP11A	SHH	NAA10	SYT2	TBCK	OCLN	PEX16	SAMHD1	EXOC8	PIGU	PDHX	AIFM1	EMC1	CYFIP2	NTNG2	NEUROD2	TECPR2	FOXP2	GAD1	NEXMIF	MAP2K1	AP4S1	SUCLA2	ADPRS	ZSWIM6	MT-CO3	PDZD7	HEXB	SC5D	ROGDI	MT-ND1	PCLO	NDUFA9	PNPLA6	MEF2C	NDUFA2	IARS2	NACC1	ABCD4	FBXL4	HTT	NDE1	KCNT1	CASZ1	CACNA2D1	CDK19	DNAJC3	TMEM67	VPS41	WIPI2	FBXO28	KRAS	NKX6-2	KCNQ2	NARS2	MVK	STX1B	PIGL	SYNE1	SUCLG1	MECP2	CTNS	CACNA1B	SHPK	SLC25A15	COL18A1	TRIM8	HSPG2	ZNF592	KANK1	MT-TL1	PSPH	TRAPPC4	ESPN	NDUFB8	SCO1	SLC2A1	PLK4	SUOX	RNF216	RTEL1	SMC1A	ACTL6B	PANK2	LRRK2	EXOC7	PCCB	GFM2	MLXIPL	KPNA3	VAPB	LMNB1	LARGE1	NDP	ATP13A2	WASHC5	SPTLC1	TOMM40	PON2	TRAPPC12	CNKSR2	PRDM16	RMND1	QARS1	NALCN	EHMT1	DMXL2	HDAC4	CYP27A1	XPC	GTF2E2	LAGE3	APC2	DEGS1	MT-ND6	PDPN	CDC42	GRIN2A	PCCA	AP1B1	FRMPD4	SCO2	MT-TS2	CLIP2	PRKDC	ZC4H2	CTDP1	TAF15	ZNHIT3	MT-TQ	IDUA	GBA2	TMEM147	SPTBN1	GLYCTK	SLC16A2	ADH1C	AP1S2	PRUNE1	LYST	RTTN	AP4B1	EPRS1	TUBGCP4	DSE	POGZ	GABRG2	DOHH	EPG5	ATP6V0A1	ERCC4	MYORG	NSD1	FGFR1	MPLKIP	COG4	COLGALT1	SMN2	GIGYF2	NRROS	NDUFAF3	MYT1L	TOE1	ADARB1	B3GLCT	PIGT	MGAT2	MMP23B	EIF4G1	CYB5R3	ELN	ATL1	RBM28	POLA1	LHX1	NOTCH3	PCNA	WHRN	PRKN	HUWE1	MDH2	BSCL2	RNF125	PMPCA	EXOSC1	DAO	COX8A	PTCD3	PIGP	TMX2	MUC1	GUSB	ATXN3	GFAP	BTD	PLPBP	CELF2	ALG8	GABRA1	VARS1	COG8	TIA1	EPHA4	PCK1	TXN2	FXN	TP53RK	GJC2	AFF3	TPI1	HIVEP2	NDUFV1	TPP1	RHOBTB2	PPARGC1A	SPEN	MT-TT	UCHL1	SMG9	SKI	HDAC8	TRPM7	ACO2	NDUFS2	SLC25A46	ADSL	GRIA3	PHACTR1	PODXL	MPDU1	GTF2IRD1	MINPP1	NDUFAF5	PEX19	ANG	NUP133	NUP62	PDE6D	SUMF1	BCS1L	VPS13A	SNCAIP	ACTG1	TIAM1	TMEM70	GLUL	RARS2	SPG21	SLC38A3	NGLY1	USH1C	DHCR7	PCDH19	CFAP410	TBCD	SLC39A14	LUZP1	VPS16	ATG7	SZT2	RFT1	RFC2	DKC1	PYCR2	TBL2	GEMIN4	POLG2	PPFIBP1	MTR	UBE3A	PUS7	GTF2I	MECR	MRM2	AGA	GLT8D1	KCNAB2	RALGAPA1	PLAA	PGAP2	MOGS	STX1A	SLC17A5	ATXN8OS	KCNA1	DNAJC30	CTSD	CYLD	CERS1	EIF2AK2	RERE	DCDC2	HTRA2	CACNA1I	PCDHGC4	RAB23	DOCK7	L2HGDH	TRMT5	DALRD3	XPA	AP4M1	TARS1	CACNA1G	IRF2BPL	TERT	BCAP31	SMC3	ALG14	COG6	HERC1	NHLRC2	NDUFV2	ATXN7	SLC5A6	PIGG	NDUFS1	MT-CO2	NPC1	NIPBL	OPHN1	GTF2IRD2	LIMK1	USP9X	SLC2A3	OPA1	FOLR1	USH2A	TMEM270	YWHAE	COPB1	AARS2	TRIT1	GABBR2	NUTM2B-AS1	AIMP2	OTUD5	COX4I1	MED25	PIGS	SHQ1	ADNP	MT-TW	NAXD	DNAJC19	NODAL	MTHFR	PNKP	PDE8B	VPS11
HP_ATROPHY_DEGENERATION_AFFECTING_THE_CEREBRUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATROPHY_DEGENERATION_AFFECTING_THE_CEREBRUM	AMPD2	MT-ND4	ADGRV1	CACNA1E	VPS37D	TRNT1	TMCO1	SPATA5	EEF1A2	HECW2	PDHA1	GRIA2	GABRA5	C9orf72	SPG11	BMP4	SETD2	ALDH18A1	GNPTAB	ALG1	FMR1	FAR1	AP3D1	PGAP1	NUS1	IFIH1	VCP	ATP1A2	DNMT1	TCTN3	PLA2G6	MYO7A	TRAK1	ATP8A2	MORC2	SLC39A8	PPT1	NTRK2	PUS3	MBTPS2	DYRK1A	STAMBP	TINF2	FDXR	SERPINI1	MFSD8	GUF1	SCN1A	STAG1	VPS4A	POMT1	ERCC5	CACNA1A	EXOSC9	CARS2	HSD17B4	CHMP2B	RPS6KA3	PIGN	GLE1	WARS2	YWHAG	CPA6	AARS1	GALC	PIGQ	FKBP6	RNASEH2B	AIMP1	NMNAT1	KIF7	EMX2	RNU7-1	COG1	UBA5	ATN1	KIF1A	TDP1	BCAS3	POU4F1	GRIA4	CLP1	GRIN1	USH1G	MOCS1	ZNF335	TRRAP	SCYL2	GABRA2	NDN	SIK1	MAN2B1	REPS1	EXOSC3	RAD21	SOX10	VPS35	MT-ND5	NUP214	TANGO2	SEPSECS	CAMTA1	MAF	DHX30	KDM6A	AGTPBP1	GABRD	TSEN54	TBK1	SCN1B	SCN3A	TSEN15	GRM7	DDB2	FUCA1	PAFAH1B1	COG2	ALG11	DNAJC13	ABCA7	CLPB	ERCC2	COG5	SLC33A1	FARSB	HIC1	DHFR	TSEN2	ALS2	GOT2	ACTB	SLC9A6	FASTKD2	IBA57	TBC1D24	GMPPB	TTC5	CISD2	CDKL5	SIX3	APOE	MAPT	WDR45	MAPK8IP3	PSEN1	HCN1	COG7	SQSTM1	BAZ1B	DARS2	PARN	TK2	SLC35A2	DGUOK	ZMIZ1	TRAF7	PCDH15	SORL1	YIF1B	TIMM50	NADK2	CASK	FBLN1	FLI1	CTSF	ATP6V1A	POLR3A	EIF4H	DNM1L	GLB1	RBL2	SPTAN1	FGF13	CLN6	SLC13A5	ERCC6	RAB3GAP2	AUH	MMADHC	MT-TF	UNC80	MAGEL2	CARS1	PITRM1	POLR3K	TREM2	PPP2R2B	AP4E1	ARV1	PRDX1	GBA1	LIAS	ATXN2	ATP6AP2	TRAPPC11	ACD	STUB1	TWNK	VPS13C	FZR1	SYNJ1	SNRPN	SLC1A2	TRAPPC9	FADD	LYRM7	NDUFA8	IKBKG	BRD4	TYROBP	CPSF3	GDAP2	MMACHC	ITPA	SCN8A	SLC39A4	FA2H	GCDH	SACS	GRN	NECAP1	KCTD7	RAB18	NANS	PRKAR1B	GPKOW	TIMM8A	ATAD1	METTL27	ATP1A3	CNTNAP1	SYNGAP1	APP	ADAM22	UFM1	UBTF	MT-TH	DHDDS	CLN8	CCDC47	SLC25A22	ADAR	OSTM1	LIPT2	LSM11	GM2A	UQCRC1	FGF12	GNAO1	FTL	PEX1	ADK	CLCN4	GTF2H5	OTUD6B	FRRS1L	MAP2K2	BICD2	GRIN2D	DPAGT1	EXOSC8	POLG	CLN5	EXOSC5	TBC1D20	FH	PCYT2	BCL7B	GON7	CDH23	NCF1	HNF1B	PEX7	POLR3B	NAGA	TBP	PIGV	PPP3CA	KIDINS220	ARX	TRAPPC6B	ACY1	MED27	HACE1	CLN3	HRAS	POMT2	WDR73	TTC19	ELOVL4	FKRP	ALG3	SNX14	GABRB2	ALG13	RNU4ATAC	YRDC	TUBGCP6	DOCK6	MARS2	UGP2	BICRA	MOCS2	PQBP1	HEPACAM	DPYD	TARS2	SLC12A5	OCA2	CIZ1	TAF2	ERCC3	PSEN2	ATRX	KCNA2	RARS1	NOVA2	KMT2D	SNCA	OSGEP	VPS53	DMPK	DTYMK	MYO5A	ACER3	HSD17B10	MT-CO1	OFD1	TRAPPC2L	PRKCZ	SETBP1	BRAF	VRK1	COQ9	SPG7	MAG	H3-3A	AP3B2	CYB5A	DNM1	MED17	SLC35C1	B4GALNT1	BUD23	GNAQ	NFIX	FARS2	WWOX	CIB2	KCNB1	PRNP	DPM1	CLTC	LONP1	PARS2	OGDHL	RAB3GAP1	RNF113A	WFS1	CWC27	JPH3	KIF1C	STXBP1	PUF60	UBE4B	TGFB1	TTC26	PIGA	DYNC1I2	KCNMA1	ERCC1	HTRA1	ATP11A	SHH	NAA10	SYT2	TBCK	OCLN	PEX16	PIGU	PDHX	AIFM1	EMC1	CYFIP2	NEUROD2	TECPR2	FOXP2	GAD1	NEXMIF	MAP2K1	AP4S1	SUCLA2	ADPRS	ZSWIM6	MT-CO3	PDZD7	HEXB	SC5D	ROGDI	MT-ND1	PCLO	NDUFA9	MEF2C	NDUFA2	IARS2	NACC1	ABCD4	FBXL4	HTT	NDE1	KCNT1	CASZ1	RNASEH2A	CACNA2D1	CDK19	DNAJC3	TMEM67	VPS41	WIPI2	FBXO28	KRAS	NKX6-2	KCNQ2	MVK	STX1B	PIGL	SUCLG1	MECP2	CTNS	CACNA1B	SHPK	SLC25A15	COL18A1	TRIM8	HSPG2	KANK1	MT-TL1	PSPH	ESPN	SLC2A1	PLK4	SCN2A	SUOX	RNF216	RTEL1	SMC1A	ACTL6B	PANK2	LRRK2	EXOC7	PCCB	GFM2	MLXIPL	LMNB1	LARGE1	NDP	ATP13A2	TOMM40	TRAPPC12	CNKSR2	PRDM16	RMND1	QARS1	NALCN	EHMT1	DMXL2	HDAC4	CYP27A1	XPC	SCN9A	GTF2E2	LAGE3	APC2	MT-ND6	PDPN	CDC42	GRIN2A	PCCA	AP1B1	FRMPD4	MT-TS2	CLIP2	ZC4H2	CTDP1	ZNHIT3	MT-TQ	GBA2	TMEM147	AP1S2	PRUNE1	RTTN	COQ2	AP4B1	EPRS1	ERCC8	TUBGCP4	DSE	POGZ	GABRG2	EPG5	NSD1	FGFR1	MPLKIP	COG4	COLGALT1	GIGYF2	NRROS	MYT1L	PSAP	TOE1	ADARB1	B3GLCT	PIGT	MMP23B	EIF4G1	CYB5R3	ELN	POLA1	LHX1	WHRN	PRKN	HUWE1	MDH2	BSCL2	RNF125	PMPCA	EXOSC1	PTCD3	PIGP	TMX2	MUC1	BTD	CELF2	ALG8	VARS1	PCK1	TP53RK	GLYCTK	GJC2	HIVEP2	TPP1	RHOBTB2	SPEN	UCHL1	SMG9	SKI	HDAC8	MTRR	ACO2	SLC25A46	ADSL	GRIA3	PHACTR1	MPDU1	GTF2IRD1	MINPP1	NDUFAF5	PEX19	NUP133	NUP62	PDE6D	SUMF1	BCS1L	VPS13A	ACTG1	TIAM1	TMEM70	RARS2	NEK1	SPG21	SLC38A3	NGLY1	USH1C	DHCR7	TBCD	SLC39A14	LUZP1	SCO2	VPS16	ATG7	SZT2	TREX1	RFT1	RFC2	DKC1	PYCR2	SLC1A4	CHCHD10	TBL2	POLG2	PPFIBP1	MTR	UBE3A	GTF2I	MECR	MRM2	AGA	MT-ATP6	KCNAB2	RALGAPA1	PLAA	PGAP2	MOGS	STX1A	SLC17A5	KCNA1	DNAJC30	CTSD	EIF2AK2	RERE	DCDC2	HTRA2	PCDHGC4	RAB23	DOCK7	L2HGDH	DALRD3	XPA	AP4M1	TARS1	TPI1	IRF2BPL	TMEM106B	TERT	BCAP31	SMC3	ALG14	COG6	HERC1	ATXN7	SLC5A6	PIGG	ERCC4	MT-CO2	NIPBL	OPHN1	CSF1R	GTF2IRD2	LIMK1	SLC2A3	OPA1	USH2A	TMEM270	YWHAE	TRIT1	GABBR2	NUTM2B-AS1	AIMP2	COX4I1	MED25	PIGS	ALG9	SHQ1	ADNP	MT-TW	NAXD	NODAL	PNKP
HP_APLASIA_HYPOPLASIA_OF_THE_CORPUS_CALLOSUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_CORPUS_CALLOSUM	AMPD2	LRP2	MT-ND4	KIF2A	ZIC2	POU1F1	YARS1	TMCO1	CUL4B	SPATA5	HS2ST1	PLCH1	CPLANE1	PDHA1	ZBTB20	RPGRIP1	GPC4	OTX2	TGIF1	PDYN	ZNF699	HYLS1	CPT2	B9D2	ZIC1	RNASEH2C	ALDH7A1	SPG11	CYP2U1	BMP4	SMARCB1	NODAL	NDUFB11	SETD2	FKRP	PGAP1	DPYSL5	SPATA5L1	SIX3	TCF12	NSD2	VPS51	MFSD2A	FBXW11	COX7B	DISP1	WDR26	DYNC2H1	DCC	PUS3	MBTPS2	ZEB2	WAC	TMEM237	DLL1	STAMBP	UNC80	CSPP1	HNRNPR	TAF1	DAG1	FDXR	ARID1B	TRAPPC14	ZBTB18	FGFR3	RNASEH2B	ANKLE2	HK1	TBCE	KRAS	CREBBP	POLR3A	CFC1	TOPORS	POMT1	LMNB1	CARS2	HSD17B4	RPS6KA3	TRIP13	GABRA5	RUSC2	EOMES	AP1G1	KAT6B	KIDINS220	TMEM218	TSEN54	SRPX2	PIGQ	MACF1	MKS1	GMPPB	LONP1	C12orf57	CC2D2A	KIF7	FLII	KATNB1	NMNAT1	FGFR1	TUBGCP2	EMX2	LARGE1	POMGNT1	SOX3	IGBP1	ARID1A	GLI2	LHX3	UBA5	TMTC3	ATN1	DDHD2	TP73	FGF8	COL4A1	RAI1	ATP6V1A	EIF2S3	CDON	WT1	SLC30A9	SUFU	GRIA4	ARX	CLP1	POMGNT2	GRIN1	MINPP1	ASNS	MOCS1	SUPT16H	CDH2	ZNF335	MAP1B	TUBB2B	DHCR24	SPEN	TRRAP	SCYL2	SIK1	COPB2	CRPPA	REPS1	PCGF2	TUBB	LETM1	MT-ND5	DHX16	SEPSECS	PIGB	ERMARD	GABRD	PTDSS1	IGF1R	GRM7	TCTN3	PAFAH1B1	COG2	CTNNB1	FOXG1	FRMD4A	RNF13	TCF4	UBE3B	HIC1	TSEN2	GOT2	SLC9A6	FCSK	IBA57	ZNF423	ALX3	TTC5	RB1	GPC3	ERCC5	CDKL5	FANCI	MTHFR	WNT3	PAH	GJC2	LSM11	HESX1	GPT2	CTU2	APC2	MAPK8IP3	TUBB2A	MCPH1	TRMT10A	COG7	VAC14	POLR3GL	ASXL1	DARS2	MRPS25	SLC35A2	ZMIZ1	NRAS	YIF1B	RPGRIP1L	MOGS	FLI1	PIGG	SON	FOXH1	SHANK3	L1CAM	NDE1	STAG2	TTI2	KIF14	SPTAN1	ARSI	FKTN	SHH	TCTN2	RAB3GAP2	DYRK1A	MT-TF	GRIN2A	SOX11	ZNF462	PSAP	LRRC32	CARS1	AP4E1	NFIA	TUBB3	FLCN	MED25	CEP63	SLC1A2	FDFT1	TRAPPC9	BUB1	ARNT2	CNOT3	RNU4ATAC	TMEM260	ERCC6	KATNIP	KAT5	STIL	WDR4	KCNK4	FA2H	SACS	LSS	NF1	NAA10	KIFBP	KCTD7	RAB18	NANS	TRAPPC10	CSF1R	IFT52	GPKOW	CTBP1	SSR4	INPP5E	COASY	PAX6	CNTNAP1	DPH1	CDK5RAP2	ARMC9	AP4B1	UBTF	MT-TH	CDK5	FGFRL1	HCCS	WDR62	SLC25A22	BUB1B	SHMT2	WDR81	SHOC2	AHDC1	IFT80	GNAO1	CPLX1	PEX1	EML1	CLCN4	DDX3X	SCN3A	CNP	GTF2H5	GRIA3	OTUD6B	BICD2	HIBCH	DPAGT1	TBC1D20	LMBR1	FH	CHMP1A	FAT4	PPP1R21	GCSH	MAPKAPK5	SLC25A19	POLR3B	PPP1R15B	AP5Z1	SLC6A9	RERE	SMC1A	DCX	TRAPPC6B	TMEM216	RAC1	GFM1	AHCY	KDM1A	RECQL4	HACE1	PRRX1	POLR1C	WDR73	ALG3	PIK3R2	ATP6AP2	CCDC88A	B9D1	PTCH1	TOE1	UGP2	SMARCC2	PIGN	POMK	PHGDH	MOCS2	DPYD	SUZ12	TARS2	TMEM67	CIT	TMEM231	GLI3	GBA1	PNKP	HNRNPK	TAF2	ERCC3	NSUN2	SYNJ1	SCN1B	PLAA	GLDC	RARS1	PCNT	NOVA2	OSGEP	RNASEH2A	VPS53	PRMT7	RAB3GAP1	ACER3	ZFYVE26	PPP2CA	MT-CO1	OFD1	PRKCZ	SETBP1	MRPS22	SLC1A4	PROP1	TOGARAM1	ALDH6A1	POMT2	PPP2R1A	SOX4	ADAT3	B3GALNT2	H3-3A	AP3B2	SOX2	AKT3	PUF60	ALX1	TDGF1	DCHS1	NFIX	PITX1	SMO	GFER	CEP104	CCDC174	SLC25A24	NUP188	RELN	NPHP1	PARS2	OGDHL	AHI1	SH3PXD2B	LNPK	PPP1R12A	RNF113A	SIX6	VPS11	TMEM138	NSD1	STXBP1	UBE4B	BCOR	TGFB1	GAS1	PYCR1	PIGA	DYNC1I2	HPDL	PPP2R3C	TBCK	DPF2	SAMHD1	ADAR	EXOC8	PIGU	MDH1	PDHX	USP9X	AIFM1	DDX59	EMC1	NEUROD2	TECPR2	NT5C2	GAD1	NEXMIF	AP4S1	TYROBP	EFNB1	FAM149B1	SALL1	MT-CO3	PORCN	RSPO2	MT-ND1	PCLO	CYP11A1	MEF2C	NDUFA2	FBXL4	SASS6	KIAA0753	DEAF1	HNRNPU	KCNT1	FGFR2	CASZ1	PHC1	CNOT1	DYNC2I1	B4GAT1	NKX6-2	SMARCE1	EXTL3	KCNQ2	NARS2	DIAPH1	IFT140	WDR35	FLVCR2	DHCR7	HSPG2	PDHB	SLC12A2	MT-TL1	CBY1	SMARCA4	LIG4	TBC1D23	TUBA8	CEP120	CWF19L1	MED12	NALCN	GPX4	SCN2A	EXOC7	KDM5B	DIS3L2	TCTN1	MED12L	CEP290	GFM2	ASPM	ZDHHC9	KMT2C	SLC6A8	ATP13A2	HSPA9	YY1	EARS2	POU3F3	VAMP2	TRAPPC12	PRDM16	RMND1	QARS1	EHMT1	C2CD3	DMXL2	ASXL3	GTF2E2	TMEM106B	MT-ND6	PDPN	CEP41	CENPJ	CDC42	GPSM2	ACY1	SMARCD1	FRMPD4	ALG2	MT-TS2	VAX1	FIG4	PRKDC	KANSL1	NCAPD3	ACTG1	MID1	MT-TQ	ZNF148	MT-CYB	VPS50	RXYLT1	PDE6D	SVBP	TAF13	BUB3	KDM4B	GLYCTK	FANCB	RTTN	EPRS1	WDR45B	POGZ	ALG12	EPG5	EXOC2	SLC12A6	CDK10	DONSON	MPLKIP	CDK6	COG4	CENPF	ERLIN2	MTRFR	NRROS	TSEN34	CENPE	ADARB1	B3GLCT	CLCN3	CDK13	MMP23B	ANKRD11	ATL1	CDK8	EP300	ACTB	CASK	OCA2	TUBA1A	ALX4	HUWE1	ZSWIM6	HRAS	DISC1	CEP135	EXOSC1	EXOSC8	GDF1	PIGP	TMX2	NONO	ZNHIT3	CILK1	FOXA2	KIAA0586	ALG8	AMER1	VARS1	AMT	RSPRY1	DACT1	POLG2	SLC25A1	ACTL6B	HIVEP2	TXNDC15	PLPBP	FANCD2	RNU7-1	MCM7	PYCR2	TMEM107	RHOBTB2	FLNA	PPIL1	SMG9	PIBF1	SKI	VARS2	MLH1	ACO2	ARFGEF2	THUMPD1	RORA	NDUFAF5	NTN1	PTPN23	TREM2	PROKR2	GBA2	TMEM70	GLRX5	PSAT1	GLUL	LAMB1	SEC31A	MAPRE2	TRIM8	SPG21	SLC25A10	GTPBP2	KNL1	IQSEC2	BRF1	NARS1	TBCD	LHX4	LUZP1	PRPS1	KCNT2	ARHGAP31	KIF5C	CD96	VWA3B	MRPS16	NADK2	GABRB1	RAD51	BRAT1	DDX6	PPFIBP1	ARL13B	DOCK7	BLTP1	DYNC2I2	WWOX	KCNAB2	RALGAPA1	UBE3A	TREX1	NELFA	MAF	DARS1	KCNA1	CDC42BPB	EIF2AK2	CEP57	HTRA2	DYNC1H1	IER3IP1	SNIP1	YWHAE	KAT8	CACNA1I	RAB23	TSEN15	UPF3B	RAC3	PRUNE1	ZFR	AP4M1	TARS1	MAN2C1	CDC40	SF3B2	COG6	KIF15	NHLRC2	USP7	PIEZO2	SLC5A6	TNR	OSTM1	ARID2	ABAT	ARL3	ERCC2	NR2F1	VANGL2	MT-CO2	POLR2A	CTNNA2	PMS2	PLXNA1	NKX2-1	ATRX	IFIH1	CEP152	CRIPT	NEDD4L	WLS	FUZ	METTL5	AIMP2	SIN3A	BRAF	OTUD5	EBP	DNAL4	ADNP	MT-TW
HP_CORPUS_CALLOSUM_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORPUS_CALLOSUM_ATROPHY	ALDH18A1	GFM2	GBA2	MAG	POLR3K	EMC1	CACNA1E	CPSF3	HSD17B4	FAR1	ATP8A2	IRF2BPL	LMNB1	FA2H	MAN2B1	BCAP31	TTC5	STUB1	CSF1R	DNM1L	VPS41	MDH2	OPA1	L2HGDH	AIMP1	PEX16	CLN5	NDUFA8
HP_ATROPHY_DEGENERATION_INVOLVING_THE_CORTICOSPINAL_TRACTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATROPHY_DEGENERATION_INVOLVING_THE_CORTICOSPINAL_TRACTS	ATL1	TMEM270	DNAJC30	DCTN1	BCL7B	SLC33A1	MLXIPL	KPNA3	VPS37D	FUS	CPT1C	GTF2I	NCF1	UBAP1	MT-ATP6	NEFH	TBK1	GTF2IRD1	WASHC5	EIF4H	BUD23	SPG11	CLIP2	PRPH	CHCHD10	SPAST	GTF2IRD2	LIMK1	RTN2	SPG7	FKBP6	NIPA1	SOD1	C9orf72	ABCD1	METTL27	VCP	TARDBP	RFC2	STX1A	BAZ1B	PLP1	ELN	TBL2	SQSTM1
HP_MOTOR_NEURON_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOTOR_NEURON_ATROPHY	IGHMBP2	SMN1	MATR3	NEK1	CYLD	SIGMAR1	NEFH	AGTPBP1	VRK1	VAPB	PFN1	ANG	TBK1	UNC13A	ATXN2	FUS	CPLANE1	FIG4	SPG11	PPARGC1A	SETX	ERBB4	PRPH	EXOSC3	PSEN1	ATXN3	UBA1	DCTN1	TRPM7	TARDBP	KIF5A	VCP	SLC25A46	OPTN	UBQLN2	SMN2	TREM2	HNRNPA1	ASAH1	SQSTM1	GLE1	ALS2	PON1	EXOSC8	RBM28	TUBA4A	EXOSC9	CCNF	MAPT	SPTLC1	PON2	CFAP410	SOD1	CHCHD10	C9orf72	HNRNPA2B1	TFG	DAO	ANXA11	CEP126	GLT8D1	PON3	TAF15	TIA1	EPHA4	CHMP2B
HP_ATROPHY_DEGENERATION_INVOLVING_THE_CAUDATE_NUCLEUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATROPHY_DEGENERATION_INVOLVING_THE_CAUDATE_NUCLEUS	OPHN1	MT-ATP6	NUP62	FTL	NEK1	HTT	VPS13A	TREM2	SLC2A3	TIMM8A	JPH3	BSCL2	FOXP2	ADAR	NDUFAF5	TYROBP
HP_ABNORMAL_SEPTUM_PELLUCIDUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SEPTUM_PELLUCIDUM_MORPHOLOGY	FGF8	PCGF2	DLL1	LETM1	CPLX1	TUBB2B	CDC42BPB	CSGALNACT1	FGFR2	HYLS1	STAG2	WDR11	LHX4	IDH1	NDUFB11	B4GAT1	PLCH1	SETD2	CRPPA	KRAS	CTBP1	PROP1	HESX1	NSD2	FKRP	PROKR2	ALG12	B3GALNT2	COL18A1	RBM8A	PACS1	SOX2	COX7B	NSD1	FGFRL1	FGFR1	HCCS	SIX3	MBTPS2	GPR161	FANCI	WNT3	POMK	NFIX	TAF1	STIL	DAG1	CDON	TGIF1	PIEZO2	MAPK1	BANF1	FKTN	POMT1	PPP1R12A	STT3A	PPP1R21	OTX2	FOXH1	MAPKAPK5	RAB5IF	PIK3CA	PTCH1	POMT2	L1CAM	NKX2-1	TDGF1	PIGA	DYNC1I2	GLI2	NODAL	PPP2R5D	EHMT1	ARNT2	KIAA0586	DISP1	RNF125	LARGE1	SOX3	APC2	SSR4	LRRC32	CSPP1	EZH2	POMGNT1	MUSK	KIF7	COL4A1	SMG8	MED25	PTDSS1	POMGNT2	POU1F1	CILK1	FOXA2	ZIC2	ROBO1	DHCR24	RSPO2	PAFAH1B1	GAS1	RXYLT1	SHH
HP_ABNORMAL_CHOROID_PLEXUS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CHOROID_PLEXUS_MORPHOLOGY	GNAS	NRAS	TP53	PHGDH	ZSWIM6	NPHP3	CDKN2A	IFT43	SETBP1	FOXF1	ZBTB18	CHEK2	SMARCB1	EXOC8	FH	MDM2	CTSC
HP_ABNORMALITY_OF_SOMATOSENSORY_EVOKED_POTENTIALS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SOMATOSENSORY_EVOKED_POTENTIALS	LMNB1	EPM2A	ATXN1	MARCHF6	TBC1D24	GJC2	NHLRC1	SAMD12	SEMA6B	TIMM8A	CYP27A1	YEATS2	ABCD1	PLP1	PRPS1	MORC2	STARD7	TTPA
HP_NEOPLASM_OF_THE_GASTROINTESTINAL_TRACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_GASTROINTESTINAL_TRACT	PMS1	ZFTA	CTNNB1	FAH	TP53	SDHD	APC	SMAD4	BRCA1	GPC4	FOXE1	ECE1	STAT6	MINPP1	SMARCB1	PIK3CA	HFE	RPS24	CDKN1B	IGF2	MSH2	APPL1	FLCN	DZIP1L	SEC23B	SPIB	RPS27	RASGRP1	MSH6	SDHB	GNAS	ADA2	SMARCA4	SEMA3D	TERF2IP	RPS28	MEN1	ATP7B	PTPN3	AXIN2	NFKB1	ARID1B	ATP7A	MLH3	ENG	SH3KBP1	MITF	NTHL1	RPS29	CREBBP	ABCB11	BLK	HNF1A	RPL35A	MUTYH	TRIP13	PTEN	RAD51	SRC	PDGFRA	PTPRJ	DLC1	BCL10	IL12RB1	PTCH1	BAP1	ARID1A	TGFBR2	POFUT1	WRN	SLC37A4	TRIM28	HBB	IL12A	RNF43	KIT	COL4A5	BRCA2	ABCC8	CC2D2A	CD19	PMS2	ATRX	SMARCD1	EP300	SPRED1	POU2AF1	BRAF	RHBDF2	BUB3	BMP6	GCK	SDHA	SPRTN	POGLUT1	FH	SKIC3	EDNRB	RAD54B	NRAS	RPL26	CDKN2A	KRAS	CDKN1C	EDN3	PKHD1	MYH11	NEUROD1	WT1	PTPN12	PALB2	BMPR1A	CDH1	DICER1	GPC3	AAGAB	TCF4	MRE11	RPS19	FGFR3	PPOX	SDHC	BLM	SMAD7	RPS15A	BMP2	GIMAP5	FGFR2	BTK	MLH1	HMBS	DCC	RPGRIP1L	PRKCD	WWOX	DAXX	MSR1	TLR2	CHEK2	ARSA	CPOX	CCND1	MET	BUB1B	SEMA4A	G6PC1	MPV17	CDKN1A	SMARCE1	SOX11	PHKG2	PDGFRL	BARD1	PRKAR1A	RNF6	RPS7	KCNQ1OT1	PLA2G2A	LMNA	SMO	FAS	BUB1	BAX	HNF4A	MBD4	CASP10	CASP8	STAT1	IRF2BP2	RPS26	PHKA2	HABP2	TJP2	MEG3	GATA1	INPP5E	TERT	MTOR	H19	POLD1	STK11	FAN1	GDF2	INS	RET	PAX4	RPL15	ERBB2	JAG1	RPL11	EPCAM	CDKN2B	PDX1	ACD	ACVRL1	GPR35	NRTN	RPL27	AKT1	GDNF	ABCD1	CEL	ICOS	DIS3L2	ERBB3	ABCB4	TREX1	YY1	AHCY	RPS10	FASLG	LZTS1	POU6F2	RABL3	SLC25A13	IL1B	UROD	RAD21	RAD51D	PSENEN	TNPO3	SUFU	KRT5	SEMA3C	SMARCC2	CR2	RPL18	TNFSF15	CDKN2C	TMEM67	TNFRSF13B	KCNQ1	RPL31	REST	NBN	TULP3	RPL5	PTCH2	KCNJ11	SETBP1	POLE	CEP57	USF3	MSH3	PSAP	SREBF1	SOX4	SERPINA1	JAK2	MGMT	DLK1	KLF11	SKIC2	SMPD1	TSR2	RAD51C	MCC	PALLD	F5	MDM2	COL4A6	SLC2A2	BRIP1	RPS20	IRF5	DOCK8	MC1R	ARID2	KLF6	NFKB2	MST1	AURKA	ASCC1	MMEL1	NAB2	DLEC1	TNFRSF13C	CDK4	RPS17	RAD50	COL14A1	RTL1	DPF2	RELA	NF1	MS4A1	CD81	TOM1	SEMA4D	TNFSF12	AXIN1	RPL35	PDE11A	PHKB	PIEZO2	PYGL	POT1	IL1RN	VHL	CTHRC1	KEAP1	KLLN	IGF2R	GREM1	IRF1
HP_NEOPLASM_OF_THE_GENITOURINARY_TRACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_GENITOURINARY_TRACT	PMS1	ZFTA	HNF1B	SDHB	MBD4	FGFR3	GPC4	TP53	TSC1	SDHD	BRCA1	KIT	BAP1	FGFR2	VHL	FOXE1	APC	DHH	NR5A1	AR	STAT6	RPS26	MINPP1	HABP2	ZFPM2	SETD2	RPS24	OGG1	GATA1	IGF2	PTEN	RET	TSC2	FLCN	ASXL1	SEC23B	H19	MNX1	POLD1	CDH1	RPS27	PHF21A	MSH2	STS	MSH6	BRCA2	ADA2	FH	STK11	SRY	FAN1	WT1	RPS28	BUB1B	WWOX	GPC3	AKT1	MAX	RNF139	IFNG	RPL15	KRAS	PIK3CA	DICER1	DIS3L2	RPL11	EPCAM	MLH3	NTHL1	OPCML	RPS29	CREBBP	RNASEL	RPL27	RPL35A	TRIP13	MLH1	HNF1A	RAD51	EPHB2	SRC	CDKN2A	CYP11B1	PTPRJ	TXNRD2	DLC1	CTNNB1	CDKN1B	HRAS	RPS10	POU6F2	PTCH1	KLF6	APC2	CCND1	RABL3	ERBB2	TRIM37	NF1	PDGFRL	WRN	RAD51D	CDC73	TRIM28	SUFU	BMPER	COL4A5	NNT	SOX9	IDH1	RPL18	SDHA	PMS2	KCNQ1	RPL31	REST	EP300	AXIN2	NBN	RPL5	SPRED1	NOD2	FIBP	PTCH2	BRAF	DMRT3	KLLN	BUB3	SETBP1	POLE	EXT2	PALB2	CEP57	MVK	MET	USF3	TMEM127	RAD54B	NRAS	POT1	RPL26	MDH2	PDE8B	NR0B1	MAP3K1	MSH3	CDKN1C	RAD51C	MRAP	ATP7A	VAMP7	PBRM1	DHX37	TFE3	PAX6	PRKAR1A	PDE11A	FLI1	GATA4	NSD1	TSR2	PTPN12	BCL10	SDHC	MCC	SLC25A11	PALLD	BMPR1A	HDAC4	AAGAB	MDM2	COL4A6	KIF1B	MRE11	BRIP1	STAR	RPS19	RPS20	SLC6A17	MXI1	STAG3	BLM	RPS15A	DOCK8	PRCC	TGFBR2	AURKA	BUB1	DCC	SMAD4	PRKACA	ZFHX3	WNT10A	CHEK2	RB1	NAB2	KANSL1	FERMT1	B3GALT6	TLR2	RPS17	RAD50	COL14A1	SEMA4A	RELA	LMNA	RNF43	ARMC5	RPL35	MC2R	CXCR4	PRKN	KCNQ1OT1	BARD1	ALX4	KEAP1	GNAS	RPS7	PLA2G2A	EWSR1	GREM1	IDH2	BAX	MAD1L1	DLST	SDHAF2
HP_FACIAL_TELANGIECTASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_TELANGIECTASIA	GNPTAB	SOX18	ACVRL1	SDHD	SLC2A10	SLC29A3	BLM	ATRX	WNT10A	ATR	ARPC4	ARX	VPS53	POLE	DAXX
HP_CONGENITAL_LOCALIZED_ABSENCE_OF_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_LOCALIZED_ABSENCE_OF_SKIN	BMS1	COL7A1	PLEC	LAMC2	DLL4	LAMB3	LAMA3	UBA2	ITGB4
HP_APLASIA_CUTIS_CONGENITA_OF_SCALP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_CUTIS_CONGENITA_OF_SCALP	UBA2	PLEC	ITGB4	LETM1	CPLX1	MSX2	BMS1	ALX4	FGFRL1	DLL4	PIGG	ITGA6	ALG9	UBR1	ARHGAP31	MCTP2	CTBP1	NELFA	NSD2
HP_EXCESSIVE_WRINKLED_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXCESSIVE_WRINKLED_SKIN	FGFR3	LZTR1	SMARCA2	TWIST2	COL3A1	ATP6V0A2	TBL1XR1	RAF1	ADAMTSL2	PYCR1	TERT	ATP6V1E1	RIT1	CSTA	C1R	ABCC6	ZNF469	PTEN	CFTR	MAP2K1	ACD	PIK3R1	COG7	RTEL1	ADAMTS2	TINF2	H4C5	KRAS	PTPN11	FGFR2	BRAF	MAP2K2	ENPP1	DKC1	MRAS	PARN	TGM5	ATP6V1A	PLOD1
HP_PROMINENT_SUPERFICIAL_BLOOD_VESSELS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_SUPERFICIAL_BLOOD_VESSELS	POLR3A	ALDH18A1	SEMA4D	GPR35	MST1	PYCR1	SLC39A13	RASA1	ATP6V1E1	C1R	G6PC3	FOS	PTDSS1	TCF4	ZMPSTE24	IPO8	PPARG	ATP6V0A2	AEBP1	ANTXR1	FLT4	CAVIN1	BSCL2	LEMD2	CAV1	LMNA	COG4	SLC25A24	AGPAT2	BANF1	ATP6V1A	PPP1R15B
HP_IRREGULAR_HYPERPIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRREGULAR_HYPERPIGMENTATION	DNASE1L3	KRT14	CD28	KITLG	TP53RK	FANCB	BLM	POLA1	TSC1	SDHD	FANCA	CTLA4	UBE2T	NHP2	NF1	DSTYK	PDGFRB	PRKAR1A	HMGA2	FANCD2	IL6	TERT	PTPN11	KRAS	SALL4	KIT	GNAQ	MAX	KDM6A	CDKN1B	IGF2	MSH2	TNFRSF1B	COL17A1	CLCN7	SEC23B	MLH1	STEAP3	MTOR	RET	CASR	FANCE	COL7A1	GNAS	NCF1	STK11	NOP10	MMP2	SPRED1	BUB1B	ERCC4	PARN	SHOC2	PIK3CA	CYBA	CEP57	ERCC8	TINF2	FANCC	FANCL	CYBB	LZTR1	KRT5	PHIP	TP53	CLTRN	MAP2K2	CDKN2B	RTEL1	MAPK1	PALB2	ERCC3	CREBBP	FERMT1	TMC6	BRCA2	TP63	TRIP13	CHN1	TOP3A	GJA1	CYBC1	SLX4	PDGFRA	RERE	ABCB6	UBR1	IGF1	MAN1B1	RAD51C	HGD	BRIP1	APC	USB1	XPC	CTC1	PCNT	SKIC3	ZFHX4	POFUT1	FANCF	COL3A1	MAD2L2	KIF1B	RAF1	SMARCAL1	PSENEN	NPM1	SDHC	FANCI	ACP5	TUBB	NDUFB11	FGFR1	SRD5A3	PTEN	CDKN2C	ERCC6	TERC	KDM6B	RFWD3	MAFB	XRCC2	LMNA	ATP2A2	GNA11	SEC23A	C1S	PPP1CB	ATM	SLC6A19	VHL	SVBP	KDM5C	ESCO2	BUB3	SDHA	ABCC9	SDHB	DHX30	ST3GAL5	POGLUT1	USF3	MED12	TWIST2	GJB3	GNB2	NBN	BRAF	WRAP53	PDE8B	PLAG1	H4C5	INSR	DDB2	IL7	KMT2D	ABCD1	C1R	CWC27	XPA	ERCC2	BRCA1	SKIC2	PDE11A	CBL	GJB4	DKC1	ANAPC1	NRAS	IFNG	REV3L	NCF2	LBR	CIB1	ZMPSTE24	TMC8	PLXND1	SPINK5	TYMS	ARL6IP6	BANF1	SETBP1	ACTB	MAP2K1	AKT1	CDKN1C	MEN1	SH3PXD2B	EP300	NOTCH3	WASF1	PRKACA	FANCM	CARD14	KANSL1	SOX10	PMS2	KDSR	HRAS	RBBP8	MAPRE2	ERCC1	CRIPT	SET	GPNMB	TMEM127	CDKN1A	FANCG	COPB1	SMARCA2	LYST	SMARCAD1	MSH6	TNFRSF1A	NF2	FGFR3	KLLN	PLEC	PORCN	RAD51	ERCC5	BUB1	COL25A1	WBP11	NCF4	RPA1	TSC2	IKBKG
HP_MACULAR_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_ATROPHY	GUCY2D	RIMS1	ELOVL4	HK1	IFT140	DHX38	RS1	YARS1	EFEMP1	ATF6	DRAM2	PRPH2	GUCA1A	KCNV2	C1QTNF5	ARL2BP	SIX6	CFI	RHO	RAX2	PRPF31	HLA-A	NRL	PCYT1A	RDH5	TNFRSF11B	CNNM4	PLK4	CFH	SH3BP2	AIPL1	LZTFL1	EPG5	SLC6A6	NMNAT1	WDR19	RP9	GBA1	RLBP1	MAPKAPK3	MERTK	CFAP418
HP_NEVUS_FLAMMEUS_OF_THE_FOREHEAD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEVUS_FLAMMEUS_OF_THE_FOREHEAD	RBM8A	PLP1	ASXL2	CDK10	CDK13	LBR	MED25
HP_DISCOID_LUPUS_RASH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISCOID_LUPUS_RASH	STAT4	IRAK1	CYBA	CYBB	LEMD3	NCF1	SPP1	NCF2
HP_ALOPECIA_TOTALIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALOPECIA_TOTALIS	ZMPSTE24	FOXN1	ANAPC1	DSP	UQCRFS1	JUP	ALX4	RIPK4	GJB6	LMNA	MBTPS2	RECQL4	NFKB2
HP_SPONTANEOUS_HEMATOMAS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPONTANEOUS_HEMATOMAS	ITGB3	F13A1	ITGA2B	WIPF1	F5	GP1BB	ENG	GDF2	F10	ITGA2	ATP7A	GP1BA	F8	SMAD4	F13B	GP9	COG8	CD109	PRKACG	WAS	ACVRL1
HP_RETICULATED_SKIN_PIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETICULATED_SKIN_PIGMENTATION	TINF2	KRT14	NHP2	DKC1	TERT	KRT5
HP_FEW_CAFE_AU_LAIT_SPOTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEW_CAFE_AU_LAIT_SPOTS	GNB2	SET	BRAF	RBBP8	TRIP13
HP_GENERALIZED_EDEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_EDEMA	FSHR	PLVAP	FARSB	MYLK	CD46	CFI	MOGS	PIEZO1	CD55	NOS1AP	HELLPAR	DOK7	COQ2	TTC26	PRF1	UBR1	PHGDH	DEF6	PMM2	CALCRL	CFH	PRKAG2	PDSS2	DPAGT1	TMEM260
HP_CONGENITAL_ICHTHYOSIFORM_ERYTHRODERMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_ICHTHYOSIFORM_ERYTHRODERMA	ASPRV1	ABCA12	CYP4F22	KRT10	TGM1	TARS1	ERCC3	STS	ALOXE3	GJB2	SPINK5	NSDHL	NIPAL4	KRT1	ALOX12B	KRT2	PNPLA1	LORICRIN	EBP	GBA1	ST14	KDSR	ERCC2	ABHD5	POMP	CERS3	ELOVL4	GJB6	GTF2H5	SULT2B1
HP_GENERALIZED_HYPERPIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_HYPERPIGMENTATION	TRAPPC11	AKT1	HRAS	CYP11A1	SLC40A1	AAAS	BMP6	POLA1	AIP	TERT	MC2R	PTEN	ALDH3A2	KCNN3	MAP2K1	ACD	MYO5A	HJV	IRF4	PAX6	STAR	GPR101	RTEL1	NNT	TXNRD2	TINF2	INSR	GMPPA	KRAS	HAMP	HFE	KRT14	BRAF	KRT5	MAP2K2	ATP6V1B2	MRAP	DKC1	KCNH1	PARN
HP_PARTIAL_ALBINISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARTIAL_ALBINISM	PAX3	KIT	TYRP1	SNAI2	MITF	MYO5A	LAMTOR2	RAB27A	MLPH
HP_PALMOPLANTAR_BLISTERING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALMOPLANTAR_BLISTERING	COL7A1	KRT6B	DSG1	KRT17	PKP1	KRT16	KRT5	KRT1	PLEC	KRT6A	KRT14
HP_DIFFUSE_PALMOPLANTAR_HYPERKERATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFUSE_PALMOPLANTAR_HYPERKERATOSIS	KRT1	RHBDF2	KLHL24	KRT9	SERPINA12	JUP	SLURP1	KRT16	SNAP29	AQP5
HP_CONFETTI_LIKE_HYPOPIGMENTED_MACULES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONFETTI_LIKE_HYPOPIGMENTED_MACULES	CDKN2C	CDKN1B	MEN1	CDKN2B	NONO	TSC2	IFNG	TSC1	CDKN1A
HP_PROMINENT_VEINS_ON_TRUNK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_VEINS_ON_TRUNK	AEBP1	PPARG	ATP6V0A2	ATP6V1E1	ATP6V1A
HP_HEMANGIOMATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMANGIOMATOSIS	AKT1	GNAQ	FGFR1	PTEN	PTH1R	RASA1	ENG	GDF2	CCND1	SLC26A2	PIK3CA	IDH1	VHL	SMAD4	FGFR2	IDH2	KRAS	EIF2AK4	ACVRL1	TEK
HP_ABNORMAL_DERMATOGLYPHICS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DERMATOGLYPHICS	BRD4	KRT14	EXTL3	TSEN2	ITCH	VPS37D	IFT122	GDF5	RPL10	GLYCTK	CTCF	POLRMT	IFT43	AFF3	PEX3	LTBP4	MYOD1	FLNA	FGD1	BMP4	MEG3	RNU4ATAC	GPKOW	FBXO28	KRAS	CBL	FGFR2	DPYD	EHMT1	CTBP1	RRAS2	METTL27	PEX5	STAG1	MEGF8	DPH1	CLCN7	TCF12	VPS51	HDAC8	TRIM8	ARL3	DHCR7	ARID1B	PEX10	THOC2	TCF4	ATP6V0A2	FGFRL1	SMARCAD1	AIP	SMOC1	SMARCA2	PTPN11	TBL1XR1	GTF2IRD1	H4C9	G6PC3	ANKRD11	EXT1	B4GALT7	MED12	SHOC2	RRAS	MRAS	PAX1	CEP57	SMPD4	RBM10	PEX1	SMC1A	PTPRF	BHLHA9	RIT1	FGFR3	TYMS	MAP2K2	MUSK	DSE	TUBA1A	CREBBP	BCL7B	MLXIPL	ASXL2	MTX2	DHODH	FGF9	NDUFB11	TRPS1	NCF1	HOXA13	GLE1	PIEZO2	NUP88	YY1	TWIST1	NALCN	BRF1	BCOR	ERGIC1	RAB11B	TSEN54	RIN2	DLX4	UBR1	APC	IGF1	FKBP6	ASXL3	CD96	KATNB1	DLK1	HRAS	RFC2	PEX6	KAT6B	TBL2	GATA1	RTL1	PORCN	TRIM37	PEX12	TRIO	NECTIN1	TPM2	GTF2I	CHD7	FOXP1	SLC39A13	ATR	WAC	SLC25A12	CCBE1	DOCK6	PLAA	DDX11	GRIN1	CLIP2	ZMYM2	RAB3GAP2	PEX11B	FIG4	TP63	MAP1B	TFAP2A	CEP55	PEX2	ROR2	PEX16	STX1A	AUTS2	HCCS	DNAJC30	RAD21	LETM1	CPLX1	ZNF292	KDM4B	SETBP1	TMEM147	CDC42BPB	CSGALNACT1	SPTBN1	NGLY1	DHX30	NIPBL	KDM6A	KMT2D	NAA20	STXBP1	RIPK4	NRAS	MYH3	BMPR1B	GNB2	NBAS	PPP2CA	UBR7	VPS33A	TELO2	NAA10	HNRNPK	BRAF	ATP6V1B2	TSEN15	NSD2	LMX1B	TAF6	ALDH6A1	PNPLA6	SPRED2	KCNH1	NOG	SOS2	UBE3B	PACS1	H3-3A	TASP1	KCNK9	CDK10	TNNT3	PUF60	PEX19	PDHA1	SALL4	SMC3	TGDS	RB1	LTBP1	CHST3	HDAC4	CCDC32	ADAMTSL1	LRP4	TSEN34	BUD23	NUP107	CKAP2L	TOE1	B3GLCT	WDR37	ESCO2	VPS13B	RASA2	NEXMIF	SLC25A24	NUP188	VAC14	RAF1	ASXL1	BAZ1B	TNNI2	ELN	MEF2C	LONP1	RAB3GAP1	PKDCC	DOK7	EP300	COX14	LZTR1	RPS23	GJA5	PEX13	LIFR	IFT57	DPH2	EYA1	SPECC1L	EIF4H	COX7B	SCYL2	XYLT1	PEX26	PLOD3	GTF2IRD2	PEX14	LIMK1	MAP3K7	MSL3	MCTP2	COL25A1	PIGL	PPP2R3C	SET	SLC18A3	NXN	GJA8	DPAGT1	ZNF462	TMEM270	PRR12	MTOR	COL17A1	NSDHL	OTUD5	KCNN3	MAP2K1	RAPSN	MED25	SMAD2	OFD1	PIGS	DIS3L2	CHST14	CDK19	GPR101	CILK1	PEPD	TBX4	SOS1	ADNP	SMS	RPS6KA3	SEPSECS	PPP3CA
HP_CONGENITAL_NONBULLOUS_ICHTHYOSIFORM_ERYTHRODERMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_NONBULLOUS_ICHTHYOSIFORM_ERYTHRODERMA	ASPRV1	ABCA12	CYP4F22	KRT10	TGM1	TARS1	ERCC3	ALOXE3	SPINK5	NIPAL4	ALOX12B	PNPLA1	LORICRIN	EBP	GBA1	KDSR	ERCC2	ABHD5	POMP	CERS3	ELOVL4	GTF2H5	SULT2B1
HP_ABSENCE_OF_SUBCUTANEOUS_FAT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENCE_OF_SUBCUTANEOUS_FAT	ZMPSTE24	CARS1	ERCC3	ERCC2	POLR3A	TARS1	CAV1	RNF113A	LMNA	KCNJ6	GTF2H5	PRIM1	ERCC4	GTF2E2	FBN1	MPLKIP
HP_LINEAR_ARRAYS_OF_MACULAR_HYPERKERATOSES_IN_FLEXURAL_AREAS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LINEAR_ARRAYS_OF_MACULAR_HYPERKERATOSES_IN_FLEXURAL_AREAS	KRT6A	KRT6B	KRT17	KRT16	POMP
HP_PREMATURELY_AGED_APPEARANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURELY_AGED_APPEARANCE	VPS37D	LMNA	COL3A1	PARN	RIT1	COG5	C1R	LTBP4	ZNF699	LMNB2	STN1	ZMPSTE24	ALDH18A1	KCNJ6	PAX3	MITF	TERT	SOX10	RAB27A	KRAS	FGFR2	ERCC6	TERC	METTL27	ENPP1	ELN	BRCC3	ATP6V1A	RNF113A	ATP6V0A2	TWIST2	NHP2	GJB2	GTF2IRD1	EDA	ERCC4	MED12	NOP10	ERCC8	PCNT	PIK3R1	RTEL1	TINF2	EDARADD	LZTR1	EDNRB	GTF2H5	SCN1A	MAP2K2	AP2M1	MTX2	KITLG	PLOD1	POLR3A	BCL7B	SLC2A10	MLXIPL	NEXMIF	TRAIP	ERCC5	NCF1	CSTA	ABCC6	PSMB8	EDN3	MPLKIP	TALDO1	FKBP6	RFC2	USB1	CTC1	DKC1	GTF2E2	TBL2	CDH11	RAF1	WRN	GTF2I	NPM1	GHR	CFTR	RECQL4	COL1A1	CLIP2	RAB3GAP2	AEBP1	TFAP2A	ERCC3	CENPE	CENPJ	SNAI2	STX1A	MRAS	TGM5	SLC2A1	ATM	DNAJC30	MDM2	COL5A2	ATP6V1E1	CHD2	MYO5A	ZNF469	PTEN	ADAMTS2	WRAP53	CAV1	H4C5	PTPN22	ATR	EDAR	BRAF	FBLN5	B4GALT7	NUP85	TARS1	SMARCA2	INSR	ADAMTSL2	PYCR1	TOR1A	MTAP	CARS1	BUD23	TYR	SLC25A24	DSTYK	TYMS	BAZ1B	GJB6	BANF1	FBN1	RAB3GAP1	ERCC2	TBL1XR1	LIFR	CYP27A1	GORAB	ATRIP	EIF4H	NAA10	PLK4	COG7	GTF2IRD2	LIMK1	ERCC1	RBBP8	TMEM270	FAS	FGFR3	MRPS2	MAP2K1	ACD	STUB1	PTDSS1	COL5A1	ALG8	SYNGAP1	PTPN11	SLC6A1	ANTXR1	SLC5A6	RPA1	CEP152
HP_RECURRENT_STAPHYLOCOCCAL_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_STAPHYLOCOCCAL_INFECTIONS	GSTM3	CYBB	IRAK4	CFTR	HFE	LYST	TGFB1	CLCA4	EDNRA	CYBA	SLC11A1	NCF1	SERPINA1	RFX5	SLC26A9	NTRK1	FCN3	IL17RA	GCLC	RFXAP	CEACAM3	STAT3	PGM3	RFXANK	CEACAM6	STX1A	NCF2	SLC9A3	SLC6A14	KCNN4	MIF	DCTN4	ITGB2	CIITA	HMOX1
HP_FOLLICULAR_HYPERKERATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOLLICULAR_HYPERKERATOSIS	KRT6B	COL6A3	KRT16	PSENEN	DDR2	KRT6A	FKBP14	TARS1	DSG4	POFUT1	RHBDF2	SREBF1	LRP1	GJB2	TRIP4	NLRP1	KRT81	PKP1	MBTPS2	KRT17	SLC27A4	KRT86	DSC3	COL6A2	GJB6	WNT10A	COL6A1	PLOD1	KRT83
HP_GENERALIZED_ICHTHYOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_ICHTHYOSIS	PHGDH	PNPLA1	LORICRIN	SLC27A4	NIPAL4
HP_GENERALIZED_HYPOPIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_HYPOPIGMENTATION	HPS6	OCRL	MITF	NPAP1	SKIC2	TYR	BLOC1S3	EDNRB	SNORD115-1	BLOC1S5	HPS3	ZPR1	TYRP1	OCA2	HPS4	TP63	MKRN3	PWRN1	MAGEL2	SKIC3	HERC2	DTNBP1	HPS1	WDR45	LRMDA	SNORD116-1	MC1R	LYST	PWAR1	AP3B1	KRT5	LEMD3	EPG5	SLC24A5	CACNA1F	HPS5	AP3D1	SLC45A2
HP_EDEMA_OF_THE_DORSUM_OF_HANDS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EDEMA_OF_THE_DORSUM_OF_HANDS	ZNHIT3	KLHL41	RBM8A	ANGPT1	SERPING1	ACTA1	NEB	KNG1	PLAA	LMOD3	TGM1	KLHL40	EPHB4	HS3ST6	RNF13
HP_PALMOPLANTAR_CUTIS_LAXA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALMOPLANTAR_CUTIS_LAXA	FGFR2	LZTR1	RIT1	C1R	ZNF469	ATP6V0A2	MRAS	PLOD1
HP_INCREASED_NUMBER_OF_SKIN_FOLDS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_NUMBER_OF_SKIN_FOLDS	ALDH18A1	TUBB	GGCX	ELN	FBLN5	MAPRE2
HP_PUNCTATE_PALMOPLANTAR_HYPERKERATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PUNCTATE_PALMOPLANTAR_HYPERKERATOSIS	ATP2A2	AAGAB	KRT5	ENPP1	KRT14
HP_SEVERE_PHOTOSENSITIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_PHOTOSENSITIVITY	GATA1	EPM2A	UROS	UROD	DHCR7	NHLRC1
HP_EPIDERMAL_HYPERKERATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIDERMAL_HYPERKERATOSIS	ZMPSTE24	GJA1	SOX18	KRT9	BRAF	KRT1	KRT16	ELOVL4	LMNA
HP_ABNORMAL_SUBCUTANEOUS_FAT_TISSUE_DISTRIBUTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SUBCUTANEOUS_FAT_TISSUE_DISTRIBUTION	AKT1	PRKAR1A	PDE11A	TGFB1	PDE8B	TBL1XR1	PMM2	ATP6V0A2	PTEN	PRKACA	ATP6V1E1	ATP6V1A
HP_PLANTAR_HYPERKERATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PLANTAR_HYPERKERATOSIS	KRT14	KRT1	CD28	TNNC1	GJB2	ACTC1	KRT2	CAP2	ABCC9	SDHD	CTLA4	AAGAB	NHP2	TGM1	MBTPS2	DES	RSPO1	DSG1	ALOX12B	FHL2	KRT6C	TERT	KRAS	FGFR2	SLCO2A1	CSTA	ATP2A2	PIGL	TAF1A	DSP	TNFRSF1B	SEC23B	ACTN2	AAAS	STS	HPGD	ALOXE3	SMARCAD1	TAT	GJB6	NOP10	RECQL4	PERP	PARN	SLURP1	TP63	TINF2	CAST	ANKRD1	KRT5	MAP2K2	RTEL1	TRPV3	FERMT1	MTX2	KLHL24	KRT10	PLEC	MYH6	SCN5A	KRT16	GJA1	TMPO	NECTIN1	PLN	PNPLA1	VPS33B	DMD	MYPN	USB1	CTC1	COG6	CTSC	TRPM4	PKP1	CYP4F22	KRT9	PIK3CA	MYBPC3	KRT83	NPM1	MCOLN1	AP1B1	SERPINA12	CFTR	FIG4	SRD5A3	BAG3	GATAD1	TXNRD2	TPM1	PTEN	MYH7	ABCA12	KRT6B	POMP	RHBDF2	KRT17	SDHB	COL17A1	JUP	USF3	NLRP1	FKTN	GJB3	SGCD	TTN	WRAP53	TNNI3	SERPINB7	PRDM16	DSG2	KRT6A	BRAF	DOLK	BAG5	WNT10A	GJB4	DKC1	TNNT2	LAMB3	SDR9C7	NIPAL4	LMNA	TCAP	NEXN	CRYAB	SDHA	SNAP29	TYMS	TAFAZZIN	TRAPPC11	PSEN2	SASH1	COL7A1	VCL	CARD14	DSC2	AQP5	KDSR	PPCS	LAMA3	COL14A1	LEMD3	LORICRIN	AKT1	LAMA4	ENPP1	CSRP3	CERS3	HAND2	PSEN1	KANK2	RBM20	LDB3	MAP2K1	ANAPC1	ITGB4	PEPD	KLLN	RAF1	GMPPA	LAMC2	SDHC	TERC
HP_MULTIPLE_CAFE_AU_LAIT_SPOTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_CAFE_AU_LAIT_SPOTS	SPRED1	AKT1	KDM5C	GNA11	TMC6	BRCA2	FANCB	BUB3	TP63	TRIP13	SDHD	PCNT	NF1	CEP57	UBE2T	SDHB	FANCM	SLX4	USF3	TWIST2	PTEN	PMS2	RERE	ERCC4	FANCL	ABCB6	KRAS	IL7	BRAF	MAN1B1	RAD51C	BRIP1	MSH2	FANCD2	SEC23B	MLH1	BRCA1	FANCG	MAD2L2	PIK3CA	FANCA	PDE11A	FANCI	REV3L	MSH6	FANCE	BUB1B	FANCF	MAP2K1	CIB1	PRKAR1A	TMC8	KLLN	PLXND1	RAD51	RFWD3	XRCC2	MAP2K2	PALB2	BUB1	FANCC	SDHC	ARL6IP6	ATM
HP_NUMEROUS_PIGMENTED_FRECKLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NUMEROUS_PIGMENTED_FRECKLES	CARS1	ERCC4	ERCC3	MITF	ERCC2	TARS1	ERCC5	RNF113A	GTF2H5	GTF2E2	MPLKIP
HP_RETICULAR_HYPERPIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETICULAR_HYPERPIGMENTATION	KRT14	TERT	POFUT1	POLA1	USB1	PORCN	TP53	TERC	NHP2	NOP10	RPA1	TINF2
HP_APLASIA_CUTIS_CONGENITA_ON_TRUNK_OR_LIMBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_CUTIS_CONGENITA_ON_TRUNK_OR_LIMBS	ITGB4	KRT14	PLEC	ITGA6	KRT5	ARHGAP31
HP_BILATERAL_SINGLE_TRANSVERSE_PALMAR_CREASES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_SINGLE_TRANSVERSE_PALMAR_CREASES	BRD4	TSEN2	RAD21	PEX6	FGF9	PEX13	TRPS1	TPM2	PEX3	TWIST1	NOG	NALCN	MYH3	BMPR1B	NIPBL	PEX26	CKAP2L	TSEN54	PEX14	RNU4ATAC	TELO2	FGFR2	TSEN15	NXN	CD96	PEX5	PNPLA6	DPH1	KAT6B	HDAC8	PEX10	NECTIN1	TNNT3	PEX19	GDF5	PEX1	SMC3	EXT1	CHST3	HDAC4	CCBE1	PEX12	SMAD2	DIS3L2	TSEN34	PEPD	PEX2	SMC1A	PTPRF	PEX11B	FIG4	TBX4	FGFR3	ESCO2	NUP188	ROR2	PEX16	SEPSECS	TNNI2	SMOC1
HP_EXCESSIVE_WRINKLING_OF_PALMAR_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXCESSIVE_WRINKLING_OF_PALMAR_SKIN	FGFR2	LZTR1	RIT1	CSTA	C1R	ZNF469	ATP6V0A2	MRAS	TBL1XR1	TGM5	PLOD1
HP_BILATERAL_MICROPHTHALMOS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_MICROPHTHALMOS	RTTN	TCOF1	PAX6	CARS1	CAPN15	GDF3	ERCC3	FRAS1	SHH	ERCC2	FAM111A	TARS1	RNF113A	PUF60	GTF2H5	MED13L	STRA6	GDF6	VAC14	FIG4	PTCH1	GTF2E2	ERCC1	MPLKIP
HP_DYSCHROMATOPSIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSCHROMATOPSIA	PDE6C	GUCY2D	OPA1	OPN1LW	BEST1	CNGB3	IMPG1	PROM1	OPA3	C1QTNF5	CEP78	OPN1MW	DNM1L	PDE6H	POLG	TK2	MORC2	TMEM126A	NR2E3	FGF14	POC1B	GUCA1A	PRPH2	OPN1SW	ACO2	MTRFR	AFG3L2
HP_CONGENITAL_STATIONARY_NIGHT_BLINDNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_STATIONARY_NIGHT_BLINDNESS	CABP4	NYX	CACNA2D4	PRPH2	RHO	PDE6B	LRIT3	GPR179	GRK1	TRPM1	GRM6	SLC24A1	FGFR2	RLBP1	GNAT1	MYO6	SAG	CACNA1F	TRAPPC9	RDH5	GNB3
HP_PUNCTATE_CATARACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PUNCTATE_CATARACT	BEST1	MAF	LIM2	FTL	GJA5	RTN4IP1	OPA3	CRYBB1	VIM	GJA8	CRYGC	SEC23A	CRYBB2	HSF4
HP_ECTROPION_OF_LOWER_EYELIDS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTROPION_OF_LOWER_EYELIDS	DLX4	CDH1	CTNND1	RNF2	DHODH	MEGF8
HP_EVERSION_OF_LATERAL_THIRD_OF_LOWER_EYELIDS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EVERSION_OF_LATERAL_THIRD_OF_LOWER_EYELIDS	CDC42	GRIA3	HNRNPK	KDM6A	KMT2D
HP_ABNORMALITY_OF_CHORIORETINAL_PIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CHORIORETINAL_PIGMENTATION	SLC25A15	MAGEL2	DCT	TSC2	BEST1	IFNG	TSC1	MICOS13	SIM1	VPS33A	PAX6	WT1	OAT
HP_REDUCED_VISUAL_ACUITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_VISUAL_ACUITY	CEP290	TSEN2	PRIMPOL	PDZD8	FSCN2	SMARCE1	PROS1	NDUFB10	LCA5	IDH3A	KCNJ13	DPP6	RGR	PRPH2	GJB2	ZEB1	NDE1	PRPF4	MT-ATP6	RPGRIP1	OCA2	TCF4	PHOX2A	ATOH7	ITGA2	FLNA	FBN2	FRMD7	B3GALNT2	BMP4	OPA1	TLR4	TGFBI	PNPT1	NDUFB11	B4GAT1	TTLL5	FRAS1	LIM2	PRPF31	NDP	SALL4	MT-ND1	FZD4	OAT	SLC7A14	TCIRG1	PITPNM3	PCARE	IQCB1	CTNS	AFG3L2	HPS6	TBC1D2B	EYS	P3H2	ATF6	BEST1	WDR26	PDE6C	SMARCA2	CRYAA	EIF2B3	GRK1	SMO	PPT1	TMEM67	EIF2B5	MFSD8	XYLT2	WAC	AGBL1	GALC	AIP	KAT6A	IMPG2	ALG3	BBS2	REEP6	HMX1	TMEM126A	NUBPL	FDXR	IMPG1	CTNNB1	FREM2	MIR184	RDH12	TIMP3	ADAMTS10	CFAP418	RCBTB1	GP1BB	PRPS1	CRB1	CREBBP	PAX6	ZNF408	ALMS1	LRP5	CDH23	ARL3	CHN1	NDUFS7	GPR143	PIGN	LOXL3	VPS11	MECR	TUBGCP4	WARS2	RP2	AP1G1	DHDDS	IMPDH1	CLRN1	BAP1	TSEN54	KIF11	MAK	HPS1	NDUFA11	ELOVL4	GMPPB	AGBL5	OVOL2	CC2D2A	NDUFA1	HDAC4	APC	POMGNT1	NF2	NMNAT1	EIF2B4	ZFHX4	RPE65	BLOC1S3	CRX	RIMS2	BBS5	KCNV2	NDUFV2	PDE6H	RPGR	TTC8	MTTP	POLG	FGFR2	POMT1	MAFB	C1QTNF5	IL12A-AS1	TSPAN12	NR2E3	FBN1	H1-4	ERF	NDUFS4	NDUFAF2	SREBF1	ARL2	DRAM2	SPATA7	OPA3	TULP1	GUCY2D	HPS3	SNRNP200	UROD	ARSA	LYST	TMEM216	AHR	SLC24A5	PDE6G	NDUFV1	ASPA	FGFR3	HLA-B	PROM1	GNAT2	NBAS	SCAPER	SMARCB1	AP4B1	ARHGEF18	CACNA1F	NAA10	EPRS1	ABCC6	SEMA4A	MARK3	PANK2	RP1	GUCA1A	CLCC1	ARHGEF2	POGZ	TACSTD2	PDE6A	CAPN5	MIR204	EIF2B2	ABCD1	TASP1	TMEM126B	RAC1	PSAP	ZNF423	NRL	PGK1	FXN	XRCC4	SALL2	USH2A	ROM1	WFS1	MTRFR	KERA	TSEN34	PI4KA	CA4	TBX1	NDUFAF1	MMP19	COL4A1	ZNF513	VPS13B	HEXB	SMCHD1	RP1L1	RLBP1	COL9A2	NDUFS1	OPN1SW	POLR3GL	MAPKAPK3	AFF4	CCDC28B	LRAT	TYR	ZMIZ1	PITX2	WASF1	LRIT3	MICU1	MC1R	KLHL7	RIC1	SDHAF1	TRAF7	CLN3	PRPF8	DNM1L	KIF14	FKTN	MAP3K7	NPHP4	TENM3	DYRK1A	ADAMTSL4	RHOA	WDR19	CBS	KLRC4	AIRE	LAMB2	PTPN22	FOXE3	AHI1	COL8A2	OCRL	LAMA1	KIZ	NSMCE2	CLCN7	NDUFS6	NDUFAF3	GNAQ	CNGB3	SDHD	PRR12	AP4E1	MERTK	PDE6B	KRT12	CEP250	PRDX1	TMEM237	TUBB3	ITM2B	TOPORS	PUF60	GRHL2	LARGE1	NDUFAF4	IFT140	TRIO	CNGA3	PLA2G6	FLVCR1	ATIC	COL25A1	CNGA1	ACO2	ARNT2	ANKRD55	P4HTM	CERKL	PCYT1A	HK1	ELP4	COL2A1	MMACHC	FAM161A	CHST6	IL10	GUCA1B	AIPL1	SLC24A1	TUB	ABCA4	COL11A1	RAX2	PRPF6	PLG	CEP164	UCHL1	ELN	XYLT1	PITX3	GNAT1	CLEC3B	STAT4	MTRR	ITGA2B	UFM1	COX7B	IL2RB	CACNA2D4	TUBA3D	RORA	BLOC1S5	GDF2	HCCS	OFD1	H4C3	HPS4	GRM6	RBP4	H4C9	HLA-DRB1	IL2RA	COL9A1	NHS	OSTM1	RBP3	CLCN6	GM2A	UROS	SMAD4	OPN1LW	SLC4A11	PRPF3	TRPM1	INPP5E	GNAS	ATP1A3	PDGFB	AP3B1	ERAP1	ACVRL1	PLOD1	CDC42	KIAA1549	YME1L1	PCYT2	ELOVL1	IFT172	GPR179	SCN1A	NEK2	TWIST1	CHRDL1	CYP4V2	BCOR	RP9	IFNGR1	AKT1	NDUFA6	BRAF	KIDINS220	GLB1	EIF2B1	ACTB	RD3	ZFYVE26	PTPN2	DLD	MTR	COL9A3	CD247	OPN1MW	RRAS2	NFIX	OGT	TUBB4B	PIK3R2	ARMC9	STX3	CDHR1	NDUFS8	MLXIPL	NDUFB9	ERCC4	TFE3	DTNBP1	POMK	USP45	RTN4IP1	PQBP1	ARL6	GP1BA	TMEM231	POC1B	CRYGC	NDUFB3	SLC45A2	GNB3	PAX2	IFT88	CDC42BPB	TANGO2	NDUFS2	ASPH	SLC39A14	C1QBP	CNGB1	NDUFAF8	NDUFAF5	FKRP	NR2F1	PIK3CA	TERT	SCN8A	MFRP	HSD17B10	SDHB	C4A	PEX6	MT-ND3	TSEN15	TIMMDC1	DNAJC30	CDH3	POMT2	IL12A	NOG	MTFMT	TMEM98	MAG	AP4M1	PRCD	FOXRED1	RHO	IL23R	TLCD3B	MEFV	CHST3	ARL2BP	PDHA1	SLC38A8	RFT1	SF3B2	BBS1	GATA1	DCT	POU3F4	SARDH	ATXN7	CTC1	SELENOI	CD109	HPS5	MT-ND2	VSX1	LONP1	GDF6	SAG	FOXL2	ITGB3	NDUFS3	SLC1A3	MEN1	GRIP1	TMEM138	LMBRD2	KIF1C	CCR1	SUFU	SDHA	TBC1D24	HGSNAT	PANK4	TIMM8A	ATRX	DHX37	CRYBB1	SH3BP2	KCNN2	CHP1	NF1	IDH3B	ALDH3A2	NLRP3	DHX38	CABP4	NYX	ENG	B3GAT3	LRPAP1	UBAC2	MED25	AP4S1	TNFSF11	SOBP	ADNP	PORCN	BTNL2	PXDN	SEPSECS	FAS
HP_CURLY_EYELASHES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CURLY_EYELASHES	BRD4	NIPBL	HDAC8	RAD21	ABCC9	STAG2	DVL1	SMC1A	SMARCA2	WNT5A	ST14	SMC3	DVL3	FZD2	KCNJ8
HP_ABNORMAL_VESTIBULO_OCULAR_REFLEX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VESTIBULO_OCULAR_REFLEX	FXN	RFC1	CLIC5	FGF14	CACNA1A	ESPN
HP_PROGRESSIVE_NIGHT_BLINDNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_NIGHT_BLINDNESS	GUCY2D	KIAA1549	LRAT	CERKL	BEST1	IFT88	SAG	FSCN2	RP1	IFT172	ARL3	ABCA4	RGR	SPATA7	IDH3A	TULP1	FAM161A	PRPF4	IMPDH1	IMPG1	KLHL7	SNRNP200	CNGA1	GUCA1B	NEK2	RP2	PRPF8	CNGB1	AHR	OAT	CLRN1	RP9	HGSNAT	ARHGEF18	PRPF6	PRPF31	RHO	OFD1	AGBL5	SCAPER	SEMA4A	CRB1	CYP4V2	TUB	SLC7A14	PDE6A	IDH3B	INPP5E	RDH12	AHI1	PCARE	DHX38	PRPH2	KIZ	IMPG2	PRCD	MERTK	RPE65	CFAP418	EYS	PROM1	NRL	RDH11	CRX	CDHR1	TOPORS	TTC8	USH2A	RDH5	BBS1	ROM1	PDE6B	BBS2	REEP6	IFT140	PRPF3	RBP3	POU3F4	RPGR	CA4	ARL2BP	PDE6G	ZNF513	MAK	DHDDS	RP1L1	RLBP1	ARL6	ZNF408	NR2E3	POMGNT1
HP_HYPOPLASIA_OF_THE_IRIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_IRIS	CPAMD8	PORCN	PAX6	MITF	LETM1	CPLX1	WDR73	FOXC1	FGFRL1	FBN1	PITX2	HS2ST1	CHN1	ITPR1	NDP	ERCC6	WT1	SOX10	ADAMTSL1	PIK3R1	PAX3	IGF1R	FGFR1	SALL4	COL4A1	VSX1	CTBP1	HHAT	MAFB	NSD2	MIR184	STIM1	LAMB2	LRP2
HP_LACRIMAL_DUCT_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACRIMAL_DUCT_STENOSIS	SIX1	TCOF1	KNSTRN	CD151	PIK3CD	MED12	TET3	EYA1	TP63	YY1	SPRED2	PAX1	KAT6A	PTDSS1	PPP1CB
HP_PERIPHERAL_RETINAL_AVASCULARIZATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_RETINAL_AVASCULARIZATION	DLK1	LRP5	MEG3	ZNF408	TSPAN12	FZD4	NDP	RTL1	CTNNB1
HP_ABNORMAL_PUPILLARY_FUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PUPILLARY_FUNCTION	SLC1A3	PHYH	ERCC6	LCA5	MYL9	RPE65	NOTCH2NLC	MPZ	BAP1	LAMB2	DNMBP	SIX6	MYH11	GNAQ	PEX7	CACNA1A	LOXL1	COLQ	CHRDL1	GALC	GNB2	SH3TC2	RAB18	GNAT2	ORAI1	PRNP	PRPS1	TULP1	SF3B1	TMEM53	HHAT	DDC	PEX10	PDE6H	ZFHX4	COL18A1	LRAT	ATF6	GNA11	ATP1A3	PDE6C	PMP22	OSTM1	PSAP	RPGR	CYSLTR2	SPATA7	ACTA2	STIM1	PRORP	CNGA3	CNGB3	COL25A1	CHRNA3	KIF1B	ATP1A2
HP_UNILATERAL_PTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNILATERAL_PTOSIS	ZFHX4	CAPN15	SMC1A	ANAPC7	MID2	SMS	HOXB1	COL25A1	WDR35	HEATR3	PUF60	MED12L	DDX59
HP_UNDETECTABLE_LIGHT_AND_DARK_ADAPTED_ELECTRORETINOGRAM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNDETECTABLE_LIGHT_AND_DARK_ADAPTED_ELECTRORETINOGRAM	MT-ATP6	NUP62	NR2E3	RPGRIP1	AIPL1	CERKL	IMPDH1	CLRN1	RP1	RP9	RPE65	ADAR	PCYT1A
HP_ABNORMAL_PUPILLARY_LIGHT_REFLEX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PUPILLARY_LIGHT_REFLEX	GALC	COL18A1	SH3TC2	LRAT	PSAP	GNAT2	LCA5	ATF6	MPZ	PRPS1	RPGR	RPE65	TULP1	LAMB2	PDE6C	SPATA7	CNGA3	PMP22	CNGB3	CHRNA3	COLQ	PDE6H
HP_OCULAR_ANTERIOR_SEGMENT_DYSGENESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCULAR_ANTERIOR_SEGMENT_DYSGENESIS	SDHB	FANCB	VPS37D	HSPG2	SDHD	HS2ST1	MT-ND6	UBE2T	RPGRIP1	VHL	ATOH7	B9D2	ETFA	RNASEH2C	IDH1	PITX2	GFER	CANT1	SALL4	MT-TC	FOXC1	RPS24	MAX	LSS	PHGDH	PITX3	COL18A1	MITF	RET	FAM111A	FBXW11	RPS27	AGK	ADA2	FH	CRYAA	RPS28	ZEB2	RECQL4	IARS2	HMX1	TCTN1	MIR184	PALB2	MIP	ADAMTS10	RNASEH2B	MT-CO1	RPS29	PAX6	MLXIPL	BRCA2	VPS4A	BEST1	KMT2C	PRDM5	RPL35A	SIPA1L3	CHN1	NDP	CEP290	MT-ND5	LONP1	FKBP6	RAD51C	PIEZO2	NCAPG2	MT-TK	GTF2E2	MSMO1	ETFB	MAD2L2	KIF1B	FANCA	MT-TS2	TRIM28	MT-TW	TRIP13	WT1	CRYBB2	SLC2A10	CLIP2	PIK3R1	BRIP1	CDH2	CTDP1	NEU1	SDHA	DLX5	RFWD3	MAFB	DAG1	WNT10B	FBN1	MT-CYB	FOXE3	CRPPA	SRY	DLX6	POMT2	HCCS	GCNT2	CPAMD8	ITPR1	LETM1	CPLX1	RERE	MAF	CRYGB	TMEM127	KCTD1	BDNF	RPL26	IGF1R	FBXW4	MDH2	ERCC6	TCTN3	NSD2	FBLN5	MIR204	BRCA1	SLC33A1	CYP1B1	TMEM67	TBC1D20	CRYBA2	LTBP2	SLC25A11	CENPF	PIGY	ADAMTSL1	BFSP2	RPS19	B3GLCT	LSM11	WDR37	PEX11B	COL4A1	ERCC8	BAZ1B	RPS15A	ELN	AKT1	ALDH18A1	COL2A1	FUT8	ATAD3A	RIC1	ETFDH	EIF4H	COX7B	FKTN	ERCC4	ERCC1	TENM3	SIL1	LAMB2	OCRL	PRR12	LDHD	RAB3GAP1	TP63	LARGE1	EHMT1	RPS7	ENTPD1	LMNA	FANCC	DLST	RPGRIP1L	ELP4	FGFR2	TXNDC15	RAB18	RPS26	TCTN2	PAX3	RNU7-1	TMEM107	TRIM44	CTBP1	GATA1	METTL27	FGF3	PNPT1	H19	MT-CO3	FGFRL1	TONSL	PEX5	SEM1	GTF2IRD1	NHS	ABCA2	POMT1	GLIS3	XYLT2	RPL15	GTF2H5	JAG1	RPL11	DPAGT1	SBF2	CRYAB	BCL7B	SEC31A	GFAP	RPL27	ERCC2	NDUFB11	NCF1	BTRC	PEX7	MT-TV	MPLKIP	DIS3L2	LMX1B	TMEM237	TMEM216	ARPC4	RFC2	FZD4	FANCD2	RPS10	LRP2	POU6F2	CRYBB3	TBL2	PORCN	NF1	ZNF469	WDR73	CRYGD	GTF2I	FANCI	B9D1	DOCK6	PIK3C2A	TREX1	FGFR1	RPL18	EPG5	XRCC2	HHAT	RPL31	REST	CRYGC	STX1A	RAB3GAP2	RPL5	CSPP1	COL4A5	DNAJC30	ERCC3	MAFA	EPS15L1	POMGNT1	RNASEH2A	FKRP	CAV1	TELO2	MT-TL1	TWIST1	TARS1	TSR2	PYCR1	SDHC	PTEN	CHST3	GPC3	SLC38A8	MT-TF	RBP4	FANCF	CARS1	BUD23	GNAQ	MKS1	NUP188	TMEM231	RPS20	MT-TQ	FLNA	SH3PXD2B	RNF113A	FAR1	UBE2A	FANCM	SLX4	MT-CO2	KANSL1	SOX10	BCOR	HYCC1	GTF2IRD2	LIMK1	FANCL	RPS17	IFIH1	CRYBB1	MT-ND1	MED13L	SAMHD1	STIM1	ADAR	TMEM270	RPL35	MAB21L1	B3GAT3	FANCE	TEK	FANCG	MED25	PSMC3	ANAPC1	KCNA4	CC2D2A	CRYBA1	TKT	VSX1	RAD51	PXDN	SDHAF2	EPHA2
HP_ABNORMALITY_OF_RETINAL_PIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_RETINAL_PIGMENTATION	GUCY2D	MT-ND4	FSCN2	BBIP1	ALDH1A3	PNPLA6	LCA5	IDH3A	NDUFA9	RGR	APC	PRPF4	MT-ATP6	IDS	CNNM4	PRCD	ATF6	MT-ND1	VPS41	NDUFB11	CEP19	PRPF31	NDUFS7	PEX5	SLC7A14	OCA2	PITPNM3	PCARE	IQCB1	CTNS	AGBL5	PEX10	TLCD3B	NDUFA13	EYS	NPHP1	MT-TL1	NPHP3	PDE6A	MORC2	BBS5	PDE6C	COX15	GRK1	RHO	TNFRSF11A	ERCC4	HADHA	TTC21B	BBS2	NDUFA2	REEP6	ABCA4	POMT2	CFH	CACNA1F	MFSD8	RDH12	NDUFA12	PRPH2	CRB1	POLR3A	DYNC2I2	NDUFAF2	MFRP	ZNF408	ALMS1	POMT1	BEST1	ERCC5	ARL3	DYNC2I1	RPS6KA3	LARGE1	IMPG1	RRM2B	MECR	RP2	EDN3	CLRN1	AMACR	MAK	NR2E3	ELOVL4	GNAT2	KIF11	PIEZO2	NCAPG2	MT-ND6	NMNAT1	NDUFA10	BBS9	RPE65	CRX	COA8	WRN	MCOLN1	RPGR	TTC8	RLBP1	MTTP	MT-TS2	USH2A	TRAF3IP1	CEP164	NDUFS3	RAX2	PAX6	ERCC6	DHDDS	SLC6A6	MT-TQ	PEX16	MKS1	NDUFA4	HCCS	DYNC2H1	PHYH	RNU4ATAC	MT-ND5	DHX16	SPATA7	OPN1MW	TULP1	SNRNP200	DYNC2LI1	TTPA	PRPF8	KCNJ13	PDE6G	SCAPER	ARHGEF18	ERCC8	SEMA4A	TUBGCP4	RP1	GUCA1A	CLCC1	CHM	NDUFV1	GSS	EPG5	WDR19	SLC12A6	TYR	NRL	SLC19A3	PDHA1	KIZ	GMPPB	OTX2	HKDC1	ROM1	TTLL5	PANK2	MT-TV	CLCN3	CA4	NDUFS8	ZNF513	VPS13B	TMEM98	RP1L1	GRM6	RMRP	CCDC28B	TNFRSF11B	PET100	AKT1	CDHR1	RAB28	LRAT	PEX6	IMPG2	LRIT3	IFT27	IMPDH1	MC1R	KLHL7	SDHAF1	ALDH3A2	ELMO2	PROM1	FLNB	COX7B	FLCN	PEX14	IFT140	LZTFL1	MT-TF	CBS	AIRE	RAX	COX8A	AHI1	TIMP3	TWNK	POLG	SDHD	CEP290	SDHA	MERTK	LYST	PDE6B	BBS4	PRDX1	PEX1	CFI	TOPORS	RDH5	NDUFS4	IFT80	ACOX1	PEPD	SOX10	NDUFAF5	CNGA3	LMNA	CLDN19	FLVCR1	POMGNT1	CNGA1	NDUFV2	CERKL	PCYT1A	HK1	MMACHC	FAM161A	GUCA1B	AIPL1	SLC24A1	PEX7	PEX3	MITF	IFT52	PRPF6	BBS10	BBS12	ARL6	SOX2	TUB	MSTO1	RAB18	GNAT1	WFS1	MT-TH	EFEMP1	CACNA2D4	SUMF1	MKKS	RBP3	HADH	PRPF3	DRAM2	ARL13B	JAG1	CP	TBC1D20	MTFMT	IDH3B	KIAA1549	IFT172	WDPCP	RPGRIP1	CFAP418	CTNNB1	CDH3	CNGB3	NEK2	NGLY1	BBS1	RAB3GAP2	CYP4V2	RP9	FOXRED1	OFD1	SDCCAG8	OPN1LW	RD3	CLN3	TRIM37	FKRP	RNF216	PLK4	PISD	CNGB1	MED12	TUBB4B	TRPM1	NOTCH2NLC	POC1B	TUBGCP6	RIMS1	SIX6	PEX12	ISCA1	SAG	PEX11B	USP45	PEX2	CEP120	SLC45A2	GNB3	TAF2	NDUFS2	IFT88	MT-ND2	NDUFS1	LIPT1	TRIM32	ERCC2	ZFYVE26	VPS33A	CAV1	GPR179	MT-CO1	UNC119	SDHB	TACO1	EDNRB	IFT74	ALDH6A1	ARSG	NPHP4	CFAP410	PTEN	PEX19	PRSS56	MT-ATP8	ARL2BP	SELENOI	MT-TK	ATXN7	GDF6	RAB3GAP1	PEX13	SURF1	NDUFAF6	MT-CO2	MT-TW	PEX26	MT-TN	BBS7	HGSNAT	ERCC1	ADAM9	MT-ND3	ERCC3	DHX38	HADHB	PDE6H	CABP4	NYX	INVS	RNASEH1	ECHS1	MT-CO3	AHR
HP_PAROXYSMAL_INVOLUNTARY_EYE_MOVEMENTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAROXYSMAL_INVOLUNTARY_EYE_MOVEMENTS	PSAT1	FOXRED1	TMEM126B	NDUFS6	NDUFAF3	NDUFB10	NDUFS4	PRPH2	NDUFAF2	NDUFS3	PROM1	NDUFS7	NDUFV2	NDUFS2	NDUFS8	SLC2A1	NDUFAF8	NDUFAF5	NDUFB9	NDUFB11	NDUFV1	ABCA4	NDUFAF4	CNGB3	NDUFA11	NDUFA6	NKX6-2	NUBPL	ELOVL4	NDUFAF1	SLC35A2	MT-ND1	NDUFA1	MT-ND3	TIMMDC1	NDUFS1	MT-ND2	NDUFB3
HP_UVEAL_MELANOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UVEAL_MELANOMA	BAP1	BRAF	CYSLTR2	MBD4	GNAQ	GNA11	SF3B1	STK11
HP_FLAT_CORNEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLAT_CORNEA	KERA	TMEM270	DNAJC30	BCL7B	BUD23	CLIP2	MLXIPL	GTF2IRD2	TGFB2	LIMK1	VPS37D	PRDM5	FKBP6	GTF2I	NCF1	MARK3	METTL27	GTF2IRD1	RFC2	STX1A	BAZ1B	ELN	TBL2	EIF4H
HP_RETINAL_PIGMENT_EPITHELIAL_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_PIGMENT_EPITHELIAL_ATROPHY	TRNT1	RPGR	LRAT	LCA5	IDH3A	ATF6	PRPH2	ALMS1	RS1	TLCD3B	CRX	RPE65	IMPG2	PROM1	PDE6C	C1QTNF5	RDH11	OFD1	TOPORS	TUB	ABCA4	RLBP1	CYP4V2	GNAT2	MFRP	CNGB3	ELOVL4	CDHR1	SPATA7	KIAA1549	CNGA3	VCAN	BEST1	ALDH3A2	SNRNP200	PDE6H	TIMP3
HP_IRIS_HYPOPIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRIS_HYPOPIGMENTATION	UBE3A	NPAP1	ADGRV1	AP3D1	GPR143	MT-TS2	PRPH2	SNORD115-1	SNRPN	RERE	GABRD	MKRN3	MYO5A	PWRN1	LYST	CASZ1	RAB27A	SNORD116-1	HARS1	PWAR1	PRKCZ	SPEN	OCA2	SKI	MLPH	MAGEL2	HPS6	HSPG2	ARSG	TYR	MYO7A	CLRN1	BLOC1S5	ESPN	HPS4	IMPG1	TYRP1	XYLT2	MMP23B	AP3B1	CIB2	HPS5	BLOC1S6	WHRN	PCDH15	CDH23	MC1R	USH1C	UBE4B	SOX10	BEST1	PRDM16	LUZP1	PITX2	NDN	HPS1	CEP78	USH2A	IMPG2	PDPN	BLOC1S3	ATP10A	KCNAB2	HERC2	USH1G	DTNBP1	PDZD7	KANSL1	EPG5	SLC45A2
HP_CHORIORETINAL_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHORIORETINAL_DYSPLASIA	POMK	OCRL	POMT1	POMGNT2	KIF11	POMGNT1	COX7B	NDUFB11	DAG1	B4GAT1	CRPPA	COL4A1	HCCS	TUBGCP4	FKRP	LARGE1	TUBGCP6	RXYLT1	POMT2	FKTN	B3GALNT2
HP_BONE_SPICULE_PIGMENTATION_OF_THE_RETINA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BONE_SPICULE_PIGMENTATION_OF_THE_RETINA	GUCY2D	FSCN2	ZNF408	HK1	LCA5	IDH3A	IFT140	RPE65	IMPG2	TULP1	RDH12	PRPF31	PRPF8	CNNM4	PRCD	PDE6G	RAX2	SCAPER	MAK	MFRP	ARL3	RHO	LZTFL1	IMPDH1	CRB1	PROM1	CLRN1	RP1	POMGNT1	CLCC1	KIAA1549	ARSG	CHM	NMNAT1	SNRNP200	AGBL5	PDE6B	FLVCR1	LRAT	TTC8	BBS9	ARL6	DHX38	RRM2B	CRX	PISD	PDE6A	CNGB1	EYS	ZNF513	RPGR	ABCA4	SEMA4A	USH2A	RBP3	FAM161A	BBS1	PCARE	VPS13B	SPATA7	POC1B	GRM6	MKS1	RP9	CNGA1	RP1L1	CCDC28B	CFAP418
HP_UNCONTROLLED_EYE_MOVEMENTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNCONTROLLED_EYE_MOVEMENTS	SLC2A1	ADORA2A	GABRB3	JRK	POMGNT1	GABRA1	GABRG2	CACNA1H
HP_HYPOPLASIA_OF_THE_FOVEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_FOVEA	PAX6	ATF6	TYR	AP3D1	PRR12	IKBKG	BLOC1S3	PDE6C	BLOC1S5	SLC38A8	MC1R	OCA2	HPS4	WT1	UGP2	GNAT2	GDF3	DCT	CACNA1F	RPGR	GPR143	NEU1	MTSS2	SLC24A5	CNGA3	GDF6	HPS5	CNGB3	CFAP418	SLC45A2	PDE6H
HP_MACULAR_DYSTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_DYSTROPHY	ELOVL4	EFEMP1	PRPH2	IMPG1	PROM1	PEX1	BBS5	MT-TE	CDH3	CFI	MFSD8	IMPG2	MYO5A	SYCE1	MT-TK	CHST6	CFH	RP1L1	CCNQ	MT-TL1	TIMP3	BEST1
HP_RETINAL_TELANGIECTASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_TELANGIECTASIA	MT-ATP6	MT-ND4	PCNA	TSPAN12	MT-ND5	LRP5	ENG	NDUFS2	GDF2	MT-ND2	FRG1	STN1	MT-ND6	MT-CYB	SMAD4	MT-CO1	ZNF408	MT-ND1	CTC1	MT-ND4L	DNAJC30	FZD4	CTNNB1	NDP	ACVRL1	MT-CO3
HP_OPTIC_DISC_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPTIC_DISC_HYPOPLASIA	POLR3A	DDHD2	PLXNA1	GDF3	EXOC2	TRIT1	HESX1	APC	SALL4	SRD5A3	ARSL	SNAP29	CHN1	NFIX	HNRNPU	MAFB	NR2F1	GDF6	FANCB	PAX6
HP_PERIPHERAL_RETINAL_DEGENERATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_RETINAL_DEGENERATION	CFH	EFEMP1	COL2A1	CFI	KCNJ13	POU3F4	RS1	P3H2
HP_IMPAIRED_SMOOTH_PURSUIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_SMOOTH_PURSUIT	DPM2	SYT14	PRNP	RFC1	PDHB	EEF2	INPP5E	ELOVL4	KCND3	TMEM216	RARS1	SACS	STXBP1	MAN2B1	ATXN3	WARS2	STT3A	FGF14	GNB1	ATXN10	PLA2G6	CACNA1A	NOP56	TBCD	PEX10	TSEN54	SPTBN2	FTL	POLR3B	XRCC4	TULP1	ATXN1	ATXN2	KCNN2	ITPR1	MRE11	THG1L	PAFAH1B1	SYNE1	ATXN8OS
HP_VITREORETINOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VITREORETINOPATHY	COL18A1	COL9A2	COL9A3	LRP5	BAP1	COL2A1	P3H2	TSPAN12	COL11A1	LOXL3	NR2E3	PAK2	COL9A1	KCNJ13	ZNF408	FZD4	NDP	CTNNB1	ERBB3	CRB1	VCAN	CAPN5
HP_POSTERIOR_SUBCAPSULAR_CATARACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_SUBCAPSULAR_CATARACT	LRAT	ZNF408	LCA5	ALMS1	RPE65	IMPG2	PDE6A	EYS	OPA3	TULP1	ARL2BP	CNBP	OFD1	SPRTN	REEP6	GJA8	XYLT2	TONSL	ADAMTS18	UNC45B	NF2	RBP3	SCAPER	ARL3	IMPDH1	SPATA7	CHMP4B	OAT	POLR3GL	IDH3B
HP_GRANULAR_MACULAR_APPEARANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GRANULAR_MACULAR_APPEARANCE	CFH	LRAT	SPATA7	CFI	LCA5	CHM	EFEMP1	RPE65	PROM1
HP_MONOCHROMACY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MONOCHROMACY	GNAT2	NBAS	OPN1MW	ATF6	CNGB3	OPN1LW	RPGR	PDE6C	CNGA3	CNNM4	PDE6H
HP_OPTIC_NERVE_COMPRESSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPTIC_NERVE_COMPRESSION	CDH23	TP53	CLCN7	TGFB1	CA2	USP48	TNFSF11	TMEM53	BRAF	ATRX	TNFRSF11A	TCIRG1	USP8	NR3C1	SNX10
HP_HORIZONTAL_PENDULAR_NYSTAGMUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HORIZONTAL_PENDULAR_NYSTAGMUS	TMEM106B	MT-ATP6	NUP62	ARHGEF2	LRP5	CNGB3	ADAR
HP_RETINAL_PIGMENT_EPITHELIAL_MOTTLING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_PIGMENT_EPITHELIAL_MOTTLING	RPGR	LCA5	PRPH2	DHX16	RPE65	PROM1	MT-ATP6	CNNM4	CYP4V2	ABCA4	GNAT2	VPS41	IFT52	ERCC8	ELOVL4	GUCA1A	ALDH6A1	CHM	PITPNM3	NMNAT1	CTNS	PDE6H	TWNK	POLG	LRAT	ATF6	EFEMP1	CACNA2D4	PISD	PDE6C	CFI	RHO	RLBP1	RDH5	CNGB3	CLCN3	TUBB4B	SELENOI	CFH	GUCY2D	SPATA7	SLC6A6	CNGA3
HP_CENTRAL_HETEROCHROMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_HETEROCHROMIA	CHN1	PTEN	AKT1	MAFB	PNPLA6	SALL4
HP_ANTERIOR_CHAMBER_SYNECHIAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_CHAMBER_SYNECHIAE	MIR204	LRAT	PTPN2	CYP1B1	CD247	FOXC1	LCA5	RPE65	IL2RB	FOXE3	ZEB1	NDP	ATOH7	ASPH	OVOL2	IL2RA	B3GLCT	PAX6	HMX1	COL18A1	VSX1	STAT4	PXDN	SPATA7	GRHL2	PTPN22	ANKRD55	PITX2	COL8A2
HP_ATTENUATION_OF_RETINAL_BLOOD_VESSELS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATTENUATION_OF_RETINAL_BLOOD_VESSELS	GUCY2D	FSCN2	ZNF408	HK1	LCA5	IDH3A	IFT140	RPE65	IMPG2	RDH12	RPGRIP1	GGCX	PRPH2	HLA-A	TUB	MVK	PRPF8	CNNM4	PRCD	ROM1	PDE6G	RTTN	RAX2	GNAT2	SCAPER	MAK	ARL3	IMPDH1	CRB1	PROM1	CLRN1	RP1	CLCC1	KIAA1549	NMNAT1	CHM	USP45	SNRNP200	AGBL5	PDE6H	PDE6B	COL18A1	LRAT	TTC8	BBS9	ARL6	ATF6	DHX38	ABCA4	TLCD3B	BEST1	PDE6A	EYS	PDE6C	ZNF513	OFD1	RHO	RGR	TOPORS	ERCC4	RDH5	SEMA4A	USH2A	IFT172	BBS1	PCARE	RPGR	AIPL1	CERKL	CDHR1	SPATA7	FLVCR1	SLC6A6	CNGA3	CNGB3	MKS1	CNGA1	PRPF4	RLBP1	RP1L1	WDR19	IDH3B	CCDC28B	CFAP418
HP_PUNCTATE_OPACIFICATION_OF_THE_CORNEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PUNCTATE_OPACIFICATION_OF_THE_CORNEA	CYP4V2	UBIAD1	CHST6	PSMB8	KRT12
HP_CONGENITAL_BLINDNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_BLINDNESS	CEP290	NSMCE2	ATIC	LRP5	LRAT	SARDH	RD3	XRCC4
HP_HYPOPIGMENTATION_OF_THE_FUNDUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPIGMENTATION_OF_THE_FUNDUS	MITF	GPR143	TSC1	EDNRB	IFNG	KIF7	OCA2	GGCX	SLC25A15	SOX10	MTTP	TYR	PAX3	CACNA1F	MC1R	COL4A1	EPG5	GUCY2D	GUCA1A	SLC45A2	PRPH2	CHM	LAMB2	BLOC1S6	TSC2
HP_RETINAL_NONATTACHMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_NONATTACHMENT	PTEN	IMPG2	IMPG1	AKT1	ATOH7	PRPH2	BEST1
HP_VITREOUS_HEMORRHAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VITREOUS_HEMORRHAGE	LRP5	BEST1	GNA11	ZNF408	RS1	PROC	TSPAN12	FZD4	SF3B1	BAP1	CYSLTR2	CTNNB1	NDP	GNAQ	RB1	CAPN5
HP_TRACTIONAL_RETINAL_DETACHMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRACTIONAL_RETINAL_DETACHMENT	LRP5	ZNF408	NDP	TSPAN12	FZD4	CTNNB1	VCAN	ATOH7
HP_SLOW_DECREASE_IN_VISUAL_ACUITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLOW_DECREASE_IN_VISUAL_ACUITY	MT-ATP6	MT-ND4	NF2	SMARCE1	BAP1	MT-ND5	NDUFS2	MT-ND2	SMO	RAX2	DNM1L	TRAF7	SUFU	PIK3CA	MT-ND6	TERT	CTNNB1	MT-CYB	SMARCB1	AKT1	MT-CO1	MT-ND1	FA2H	BRAF	TGFBI	MT-ND4L	DNAJC30	PDGFB	RP1L1	GUCY2D	GUCA1A	PRPH2	MT-CO3	MFN2
HP_LACRIMAL_DUCT_APLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACRIMAL_DUCT_APLASIA	SIX1	TRRAP	FGF10	FREM2	FRAS1	FGFR3	EYA1	GRIP1	FGFR2
HP_LIMITED_EXTRAOCULAR_MOVEMENTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_EXTRAOCULAR_MOVEMENTS	NDUFAF3	NKX6-2	VMA21	NDUFS2	SCO2	VAMP1	TUBB2B	LAMB2	NDUFB8	SYT2	CHP1	SURF1	HSD17B4	COLQ
HP_UNILATERAL_NARROW_PALPEBRAL_FISSURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNILATERAL_NARROW_PALPEBRAL_FISSURE	ZFHX4	RHOA	SMARCA2	TBL1XR1	COL25A1
HP_PERIPAPILLARY_CHORIORETINAL_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPAPILLARY_CHORIORETINAL_ATROPHY	CFH	CFI	TEAD1	EFEMP1	NRL
HP_CORNEAL_OPACITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORNEAL_OPACITY	PIGN	ARSB	VPS37D	POLA1	GJB2	ZEB1	PRDM5	ATOH7	CHST6	RPGRIP1	OVOL2	TCF4	IDS	ABCA1	TXNDC15	B9D2	MYORG	ALDH18A1	TCTN2	BMP4	NDP	TGFBI	NDUFB11	B4GAT1	IDUA	TMEM107	CRPPA	GNPTAB	KRAS	METTL27	FKRP	PAX6	PITX3	NSD2	CTNS	COL18A1	CRYBB1	DHCR7	GLA	COX7B	IL2RB	SUMF1	TAT	HCCS	PEX3	PRDM12	MMP2	GTF2IRD1	OCLN	COL17A1	MBTPS2	BUB1B	IL2RA	AGBL1	ATP7B	PDGFB	POMK	MMP1	PIK3R1	CPLX1	HMX1	PEX1	SLC4A11	DAG1	JAG1	TCTN1	TRPV3	ERCC3	CHUK	POLR3A	MAB21L2	POMT1	PEX6	BCL7B	YAP1	MLXIPL	CRYGC	MAPKAPK5	PLCB3	GHR	PEX19	NCF1	TRIP13	DST	NGLY1	LETM1	GJA1	CEP290	PSMB8	POMT2	CHRDL1	CYP4V2	MAFB	COL8A2	KIF11	GNAS	NEU1	STS	FKBP6	GJA8	TMEM237	TMEM216	NCAPG2	ATAD3A	TBCE	RFC2	FZD4	CRYGD	LARGE1	XPC	TBL2	PEX13	PORCN	PTPN2	CD247	POMGNT1	ZNF469	WDR73	EPHX2	NTRK1	SMARCAL1	GTF2I	NAGA	COL4A1	MCOLN1	PIGG	ERCC6	CTSA	WT1	ERCC4	PCYT1A	B9D1	GLB1	APOB	POMGNT2	CLIP2	NLRP3	FIG4	FGFR1	PEX2	CRYBA4	NELFA	FLG	ASAH1	B3GALT6	LMNA	STX1A	GBA1	MT-CYB	RXYLT1	MAN2B1	FOXE3	SC5D	CSPP1	DNAJC30	ESCO2	LCAT	TWIST2	ELN	BUB3	SREBF1	CEP57	VSX2	RIPK4	JAM2	PEX11B	GJB3	SLC25A24	GNPTG	SLC29A3	RAB23	SLC20A2	ERCC8	TCTN3	DDB2	STAT4	PEX12	COLEC10	KRT5	RAX	FBLN5	B3GALNT2	XPA	ERCC2	RBM8A	CREBBP	CYP1B1	GJB4	TMEM67	LTBP2	SOX2	APOE	SCARF2	CENPF	REV3L	PEX5	PEX10	AIRE	KERA	ZMPSTE24	BUD23	MKS1	LIPC	TBX1	COL11A1	PLXND1	MAF	VAC14	VSX1	BAZ1B	NOD2	TMEM231	FKTN	PPP1R17	FLNB	FRAS1	FOXC1	SLC4A4	XPR1	SIX6	PEX14	LIFR	UBIAD1	PEX16	FERMT1	EIF4H	B3GLCT	APOA1	KDSR	GTF2IRD2	LIMK1	NRAS	TENM3	COL7A1	PIGL	DYRK1A	ST14	MPV17	LDLR	PTPN22	ALDH3A2	PITX2	TMEM270	OCRL	GUSB	KRT12	CRYBB2	PDGFRB	GALNS	OTUD5	UROS	LRP5	ELP1	PCSK9	PEX26	HRAS	CC2D2A	APOA2	KRT14	ABCG8	TRAPPC2	PXDN	CTBP1	ERCC5	TBCK	BUB1	CRYAA	GRHL2	ANKRD55	FUCA1	RPGRIP1L	EP300	IKBKG
HP_UNDETECTABLE_VISUAL_EVOKED_POTENTIALS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNDETECTABLE_VISUAL_EVOKED_POTENTIALS	ZNHIT3	RDH11	NDUFS4	PDSS2	PRPS1	COQ2	RAB3GAP2	ATP1A3	OSTM1	MPDU1	COX6B1
HP_REMNANTS_OF_THE_HYALOID_VASCULAR_SYSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REMNANTS_OF_THE_HYALOID_VASCULAR_SYSTEM	PRR12	NDP	PAX6	ATOH7	FZD4	SIX3	LAMB2	BCOR	NF2	CRPPA
HP_CONGENITAL_PTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_PTOSIS	ZFHX4	TRIO	DNA2	COL25A1	BRCC3	IGF1
HP_LAMELLAR_CATARACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LAMELLAR_CATARACT	CRYGB	MIP	BFSP1	CRYBA4	HSF4
HP_RETINAL_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_DYSPLASIA	POMT1	RXYLT1	TUBB	POMGNT1	COX7B	INPP5E	B4GAT1	COL4A1	HCCS	FKRP	POMT2	FKTN	POMK	LARGE1	POMGNT2	PDE6D	NDP	NDUFB11	DAG1	CRPPA	FLNB	KIF11	FOXE3	B3GALNT2
HP_GAZE_EVOKED_HORIZONTAL_NYSTAGMUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GAZE_EVOKED_HORIZONTAL_NYSTAGMUS	PRRT2	RBL2	CACNA1A	CACNA1G	GRM1	PAX7	UROC1	SACS	GCH1	KCND3	ITPR1	SYT14	THG1L	BEAN1	SOX3	SCN1A	ATP1A2
HP_PROGRESSIVE_VISUAL_FIELD_DEFECTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_VISUAL_FIELD_DEFECTS	CTNNB1	PRPH2	RHO	BRAF	PRPF3	RLBP1	RDH5
HP_MACULAR_HYPOPIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_HYPOPIGMENTATION	IFT74	ADAR	MC1R	OCA2	NMNAT1
HP_HYPOPLASTIC_IRIS_STROMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_IRIS_STROMA	CHN1	PAX6	MAFB	MITF	PAX3	PITX2	SALL4	FOXC1
HP_PERIPHERAL_VISUAL_FIELD_LOSS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_VISUAL_FIELD_LOSS	GUCY2D	LRAT	RNU4ATAC	DLAT	ARL6	LCA5	ABCA4	RRM2B	SH3TC2	CRX	RPE65	PDE6A	CNGB1	ZNF513	CYP1B1	PRPH2	RHO	IDS	SDHA	RDH5	SEMA4A	EFEMP1	BBS1	POU3F4	MYOC	PROM1	SPATA7	SLC6A6	IFT140	CNGA1	RLBP1	CWC27	CCDC28B	AGBL5
HP_ABNORMALITY_OF_MACULAR_PIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_MACULAR_PIGMENTATION	IFT74	RIMS1	MMACHC	LCA5	PRPH2	PCYT1A	RPE65	IMPG1	PROM1	HMCN1	MC1R	ABCA4	APOE	MAK	ELOVL4	IMPDH1	CFHR3	CHM	RD3	OCA2	NMNAT1	RAB28	TMCO1	CDH3	CLN3	ADAR	LRAT	CACNA1F	OPN1MW	CTNNA1	TLCD3B	EFEMP1	CRX	RP2	SLC38A8	CFI	RAX2	MFSD8	CNGB3	OPN1LW	VPS13B	CFH	SPATA7	CFHR1	PAX2	CFAP418
HP_JERKY_OCULAR_PURSUIT_MOVEMENTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JERKY_OCULAR_PURSUIT_MOVEMENTS	KCNC3	SPTBN2	GBA2	TTBK2	PRNP	AARS1
HP_PRIMARY_CONGENITAL_GLAUCOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMARY_CONGENITAL_GLAUCOMA	LTBP2	CYP1B1	RPS19	LMX1B	TEK	ADAMTSL1
HP_PERIPHERAL_OPACIFICATION_OF_THE_CORNEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_OPACIFICATION_OF_THE_CORNEA	PCSK9	CHRDL1	KERA	ALDH18A1	PPP1R17	SLC29A3	LIPC	EPHX2	GHR	APOA2	APOE	ABCG8	MMP2	LDLR	APOA1	APOB
HP_ABNORMAL_IRIS_PIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_IRIS_PIGMENTATION	UBE3A	ADGRV1	PNPLA6	AP3D1	VPS37D	MT-TS2	PRPH2	SNRPN	OCA2	MKRN3	CASZ1	PAX3	SOX10	RAB27A	SALL4	SPEN	PRKAR1A	METTL27	ELN	SKI	MAGEL2	COL18A1	HPS6	HSPG2	ARSG	SNAI2	MITF	MYO7A	CLRN1	KIT	BLOC1S5	ESPN	PEX3	HPS4	GTF2IRD1	IMPG1	XYLT2	PEX1	EDNRB	AP3B1	MAPK1	ACTG1	KITLG	BLOC1S6	PEX6	BCL7B	MLXIPL	PEX19	CDH23	NCF1	CHN1	USH1C	CHRDL1	LMX1B	PRDM16	LUZP1	PITX2	HPS1	LYST	FKBP6	RFC2	TBL2	GATA1	PEX13	IMPG2	PDPN	BLOC1S3	SOS1	GTF2I	ATP10A	KCNAB2	HERC2	CLIP2	USH1G	DTNBP1	KANSL1	PEX2	EPG5	MAFB	NDN	STX1A	SLC45A2	CPAMD8	DNAJC30	NPAP1	GPR143	SNORD115-1	RERE	GABRD	MYO5A	PWRN1	PEX11B	SLC24A5	SNORD116-1	HARS1	MYH11	PWAR1	PRKCZ	PEX12	MLPH	TYR	ACTB	PTEN	C1QTNF5	HRAS	PEX5	PEX10	BUD23	TYRP1	DCT	PDE4D	MMP23B	CIB2	HPS5	BAZ1B	TP63	AKT1	WHRN	PCDH15	PEX14	MC1R	PEX16	UBE4B	BEST1	EIF4H	GTF2IRD2	LIMK1	EDN3	CEP78	USH2A	RLIM	TMEM270	GNAQ	PRR12	ELP1	PEX26	PDZD7
HP_APLASTIC_HYPOPLASTIC_LACRIMAL_GLANDS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASTIC_HYPOPLASTIC_LACRIMAL_GLANDS	GJB2	SOX10	FGF10	SLC25A24	FGFR3	FOXL2	FGFR2	GJB6
HP_ABNORMAL_RETINAL_VASCULAR_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RETINAL_VASCULAR_MORPHOLOGY	FSCN2	CERKL	NEK1	SDHB	HK1	RP1	LCA5	IDH3A	ABCC6	VPS37D	RGR	SDHD	TREX1	FAM161A	TULP1	PRPF4	RPGRIP1	MT-ND2	CYP1B1	VHL	GUCA1B	CLCNKB	TUB	CNNM4	PRCD	STN1	RAX2	MEG3	PRPF6	ZNF408	PRPF31	DNMT3A	NDP	MT-CO3	MT-ND6	SCAPER	MAX	IMPDH1	FZD4	METTL27	IFT140	PAX6	RET	SLC7A14	ELN	RDH12	PCARE	TBX1	ETHE1	AGBL5	COL18A1	IMPG2	MT-ND4	EYS	GP1BB	BEST1	PDE6A	FH	PDE6C	GDF2	OFD1	RHO	GTF2IRD1	SMCHD1	TMEM231	RREB1	APOC2	BBS2	REEP6	IFT172	SMAD4	MT-CO1	PRPF3	RBP3	MT-ND1	RPGR	DGCR6	PDE6G	CTNNB1	IDH3B	ACVRL1	KIAA1549	BCL7B	MLXIPL	LRP5	HSD11B2	ARL3	ABCA4	NCF1	MT-ND5	IMPG1	NEK2	HLA-A	RP2	LOXL1	CLRN1	FRG1	GALC	RP9	MT-CYB	MAK	DNMT3B	MYOC	NEU1	GLB1	FKBP6	CRB1	NMNAT1	RFC2	TBL2	KRIT1	CCND1	PRPH2	NF1	BBS9	MT-ND4L	RPE65	PROM1	KIF1B	GM2A	GTF2I	F12	TOPORS	CDHR1	MT-ATP6	CTSA	WT1	TTC8	ERCC4	COL4A1	USH2A	CLIP2	SDHA	DHDDS	ARL6	SLC6A6	ASAH1	CNGA3	NR2E3	STX1A	MKS1	ENPP1	WDR19	DARS1	CFAP418	NOD2	LRAT	DNAJC30	IFT88	ESS2	IKBKG	DUX4	DGCR2	SPATA7	GUCY2D	SNRNP200	CNGA1	GGCX	CNGB1	PRPF8	ROM1	RTTN	TMEM127	HIRA	GNAT2	ARHGEF18	MDH2	CCM2	PDCD10	SEMA4A	CLCC1	IGFBP7	CHM	SLC37A4	CAPN5	PDE6B	DLK1	IVNS1ABP	ATF6	SMPD1	TLCD3B	TSPAN12	ARVCF	DGCR8	NRL	SDHC	NDUFS2	SLC25A11	CENPF	EPAS1	BBS1	PSAP	BUD23	CTC1	CA4	ARL2BP	SELENOI	ZNF513	HEXB	RP1L1	RLBP1	COMT	BAZ1B	CCDC28B	SERPINC1	SAG	PCNA	SEC24C	CYP27A1	KLHL7	MVK	EIF4H	EFEMP1	HGSNAT	GTF2IRD2	LIMK1	RTL1	G6PC1	LAMB2	USP45	AHI1	DHX38	PDE6H	LRRC32	TMEM270	KIZ	LPL	GNAQ	MERTK	MYD88	ENG	JMJD1C	CRX	RDH5	AIPL1	AHR	FLVCR1	GPIHBP1	UFD1	CNGB3	POMGNT1	DLST	SDHAF2
HP_ABNORMALITY_OF_THE_VASCULATURE_OF_THE_EYE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_VASCULATURE_OF_THE_EYE	NLRP3	FSCN2	SDHB	WIPF1	LCA5	IDH3A	IARS2	VPS37D	RGR	GJB2	SDHD	TREX1	PRPF4	RPGRIP1	MT-ND2	CYP1B1	VHL	CNNM4	PRCD	TCF3	TLR4	PRPF31	DNMT3A	NDP	MT-CO3	MT-ND6	MAX	FZD4	IFT140	SLC7A14	PCARE	AGBL5	COL18A1	RET	BTK	EYS	GP1BB	BEST1	PDE6A	FOXC1	FH	PDE6C	GJB6	RHO	COL17A1	SMCHD1	MBTPS2	ERCC4	RREB1	KAT6A	RAG2	BBS2	REEP6	IFT172	CTNNB1	IGHM	ZNF408	MLXIPL	LRP5	ARL3	LRBA	TP63	MT-ND5	IMPG1	FGFR3	RP2	AP1G1	CLRN1	FRG1	GALC	PIK3R1	TBX1	ERCC8	FGF10	MAK	MYOC	GNAS	FKBP6	IKZF1	CRB1	NMNAT1	XPC	WAS	GTF2E2	CCND1	PRPH2	NEU1	BBS9	CD19	MT-ND4L	RPE65	KIF1B	ICOS	AP1B1	WT1	TTC8	COL4A1	MTTP	USH2A	CLIP2	USB1	SDHA	ERCC6	DHDDS	IL12A-AS1	SLC6A6	NR2E3	MKS1	ENPP1	ERF	ASAH1	HLCS	SREBF1	IKBKG	SPATA7	TULP1	GUCY2D	BLNK	SNRNP200	GGCX	UROD	PRPF8	PDE6G	RTTN	TMEM127	HLA-B	GNAT2	SCAPER	ARHGEF18	MDH2	CCM2	DDB2	PDCD10	FUCA1	SEMA4A	RP1	CLCC1	IGFBP7	CHM	SLC37A4	CAPN5	ERCC2	TSPAN12	DGCR8	NRL	MPLKIP	SLC25A11	NOD2	CENPF	CTSA	EPAS1	LBR	ROM1	PSAP	MT-ND1	CA4	ZNF513	HEXB	RP1L1	RLBP1	COMT	BAZ1B	PAX1	ELN	CCDC28B	IGSF3	MT-CYB	SCN9A	FGFR2	PCNA	SEC24C	IMPG2	ATM	IMPDH1	KLHL7	EIF4H	MT-ND4	GLB1	ERCC1	COL7A1	G6PC1	RNF125	KLRC4	AIRE	LAMB2	TGFBI	AHI1	LRRC32	KIZ	LRAT	GNAQ	MERTK	MYD88	BTD	MASP1	CRX	TOPORS	UROS	RDH5	PDE6B	SAMD9	ETHE1	FLVCR1	ERCC5	GPIHBP1	LIG1	POMGNT1	CNGA1	DLST	DNASE1L3	CERKL	NEK1	HK1	ABCC6	TFRC	SLC39A4	FAM161A	IL10	GUCA1B	CLCNKB	TUB	STN1	RAX2	MEG3	PRPF6	PLG	METTL27	PAX6	RDH12	STAT4	STX16	ANO10	GLA	GDF2	OFD1	GTF2IRD1	TNFRSF13B	TNFRSF1A	HLA-DRB1	SHMT2	TMEM231	APOC2	MMP1	PSMB9	SMAD4	FOXC2	MT-CO1	PRPF3	RBP3	RPGR	DGCR6	GTF2H5	ERCC3	POLH	ERAP1	IDH3B	ACVRL1	STX11	KIAA1549	BCL7B	HSD11B2	SETX	ABCA4	NCF1	TKT	NEK2	HLA-A	PSMB8	LOXL1	RP9	IFNGR1	DNMT3B	TNFRSF13C	RFC2	TBL2	KRIT1	NF1	PROM1	GM2A	GTF2I	F12	DKC1	CDHR1	MT-ATP6	CR2	RAG1	CD79B	GSN	ARL6	ENG	CNGA3	STX1A	WDR19	DARS1	CFAP418	DNAJC30	IFT88	ESS2	DUX4	DGCR2	CNGB1	HIRA	VPS33A	AEBP1	MAPT	C4A	PEX6	IL12A	XPA	DLK1	MANBA	IVNS1ABP	IL23R	ATF6	TARS1	SMPD1	TLCD3B	ARVCF	MEFV	SDHC	NDUFS2	NLRP1	BBS1	GATA1	CARS1	BUD23	CTC1	ARL2BP	SELENOI	LRRC8A	FBN1	SERPINC1	SAG	RNF113A	CYP27A1	CCR1	RNF168	MVK	FERMT1	PSMB4	EFEMP1	HGSNAT	GTF2IRD2	LIMK1	RTL1	USP45	DHX38	PDE6H	TMEM270	LPL	JMJD1C	MAB21L1	IGLL1	UBAC2	AIPL1	BTNL2	AHR	UFD1	CNGB3	FAS	SDHAF2	CD79A
HP_ABNORMALITY_OF_THE_EXTRAOCULAR_MUSCLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_EXTRAOCULAR_MUSCLES	ZFHX4	LIG3	RRM2B	KIF21A	TUBB3	MATR3	PHOX2A	COL25A1	TYMP	POLG	TUBB2B
HP_ABNORMALITY_OF_THE_PALPEBRAL_FISSURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PALPEBRAL_FISSURES	AMPD2	LRP2	MN1	GABRA3	ODC1	VPS37D	LRP4	TMCO1	BMP1	HS6ST2	IL11RA	HS2ST1	EEF1A2	ZBTB20	GPC4	GABRA5	EP300	ZIC1	PURA	PIGY	FAT4	RNU4ATAC	ASXL3	PTPN11	SETD2	SALL4	EHMT1	CAMK2A	PGAP1	FZD2	DPYSL5	SPATA5L1	MEGF8	SPOP	NSD2	EDEM3	CCDC115	TSR2	SEC24D	GP1BB	MED13	CHD1	SMARCA2	NTRK2	ANKRD11	WAC	RPS6KA3	PCNT	SKI	RBM10	UNC80	LARP7	HNRNPR	TAF1	KCNJ2	PALB2	TRAPPC14	ZBTB18	DSE	ANKLE2	CREBBP	NRCAM	POLR3A	LZTR1	ZEB2	TNNI2	BRCA2	CACNA1A	LMNB1	DHODH	DVL1	HSD17B4	TRIP13	CHN1	GLE1	DPH1	YWHAG	RIN2	KIF11	PPP2R5D	APC	CLTC	FKBP6	FLII	ATAD3A	KATNB1	TUBGCP2	KMT2A	DPH5	HSPG2	KDM5C	IGBP1	PEX3	COG1	BAP1	TRIO	ZNF526	MAD2L2	BRPF1	CHD8	CHD7	SLC39A13	EBF3	PQBP1	RAI1	ATP6V1A	NEK9	SLC30A9	PRDM13	RECQL4	CLP1	MINPP1	BRIP1	SUPT16H	CDH2	COLEC11	DHCR24	SPEN	TRRAP	GABRA2	TMEM107	MAFB	NDN	SETD1B	SATB2	MAP2K2	PPP1CB	IL1RAPL1	STAC3	FGFR1	PCGF2	MYCN	EXOSC2	SNORD115-1	PIGB	CAMTA1	DLG3	MAF	CUL4B	ERMARD	EZH2	DHX30	STXBP1	KLF13	POLR1C	ADNP	GALNT2	KCTD1	SCN3A	NBN	IGF1R	UBR7	HDAC4	MEIS2	CHAMP1	POLR1D	HNRNPK	GSC	TCOF1	KMT2D	ATP6V1B2	FOXG1	TCF4	UBE3B	CBL	EFTUD2	NOTCH3	ACTB	MADD	WNT5A	CDH11	ALDH1A3	GPC3	KIF15	CCDC32	SRCAP	UMPS	PRMT7	TBX1	COL5A1	SLC6A17	CTU2	VPS13B	MAPK8IP3	MCPH1	TRMT10A	POLR1B	HCN1	COG7	VAC14	POLR3GL	ASXL1	BAZ1B	CCDC22	DVL3	ZMIZ1	SEC24C	WASF1	NOTCH2	PHF6	MOGS	FLI1	PEX16	SON	PGM3	PGAP3	EIF4H	H4C11	STAG2	CKAP2L	MFSD2A	TTC8	TBL1XR1	SMC1A	MCTP2	SOX6	C12orf57	SLC13A5	RHOA	NXN	GJA8	PIGO	BRAF	ZNF462	MAGEL2	SCAPER	PRR12	MRPS2	IFT74	LDHD	ARV1	SPART	MASP1	CEP290	HNRNPH1	FLCN	ACSL4	MED25	CEP63	FZR1	SYNJ1	HBB	BCORL1	SIM1	RAF1	BUB1	FANCC	PHIP	ATP7A	CNOT3	VPS35L	ERCC6	HBA1	MGAT2	KAT5	SNRPN	SCN8A	COL9A3	CENPT	BGN	QRICH1	DOK7	MKRN3	NSD1	NECAP1	KCNJ5	RAB18	MYMK	MAP3K7	TRAPPC10	MEG3	GPKOW	FGFR2	FGF13	MTSS2	AMMECR1	RRAS2	METTL27	ATP1A3	SYNGAP1	SATB1	INPPL1	NDUFS4	DHDDS	SMOC1	H4C3	MYOD1	ABCA5	SPRED1	PAK3	BUB1B	SHOC2	AHDC1	NARS1	MRAS	BCL11B	SMPD4	FGF12	CHD4	CPLX1	PEX1	DGCR6	FANCL	CLCN4	KRAS	PMM2	SNX14	JAG1	AP3B1	OTUD6B	FLNA	PEX6	BCL7B	STEEP1	TRAIP	PPP1R21	GON7	MAPKAPK5	PEX19	CFAP418	NCF1	DOCK3	SLC19A3	FAM20C	MYH3	PEX7	SUZ12	BBS1	CRKL	FBXO31	PPP1R15B	NF1	RERE	DLX4	SLC45A1	PIGV	SIN3A	PPP3CA	SDCCAG8	SMAD4	ARCN1	RAC1	KDM1A	KAT6B	UBE2A	PEX13	TGFB3	NECTIN1	MUSK	SOS1	FBN1	COPB2	GABRB2	PIK3R2	FANCI	PIGG	DONSON	MLXIPL	ATP1A2	DOCK6	TOE1	BPTF	DEAF1	HERC2	PIGN	TSPEAR	THOC6	BICRA	MAPK1	CHD5	CEP55	STRA6	XRCC2	CENPE	HEATR3	OCA2	ROR2	FIBP	NSUN2	GATA4	DGCR2	KCNA2	TBX6	NOVA2	OSGEP	TRIM32	BMPR1A	PEX11B	TWIST2	KPTN	HIRA	RPS19	AP4E1	OFD1	TFAP2B	PEX12	CAMK2G	SETD5	ALDH6A1	ADAT3	KCNH1	NOG	NSRP1	MKKS	NUP85	BRCA1	DLK1	H3-3A	AP3B2	PPP2R1A	CEP152	WASHC5	DNMT3A	ARVCF	PUF60	SF3B4	PTEN	RPL10	RDH11	ALG2	ORC1	FGD1	FANCF	PAFAH1B1	DCHS1	TRMT1	BUD23	SETBP1	PITX1	WWOX	PGAP2	CERT1	SNAP29	NEXMIF	SLC25A24	PEX2	KCNB1	DPM1	MEF2C	PARS2	OGDHL	MAP2K1	SH3PXD2B	SEMA5A	PPP1R12A	CWC27	GJA5	CHST14	LIFR	P4HB	LMBRD2	FANCM	BCOR	TTC26	PIGW	PYCR1	PLK4	PIGA	DYNC1I2	KCNMA1	ANKRD17	CASK	ATP6V0A2	ANK1	NAA10	ARX	WDR35	TBX15	COL3A1	USP9X	RNF2	CYFIP2	JMJD1C	B3GAT3	FANCE	GAD1	ORC6	FANCG	EFNB1	PEX26	SALL1	NONO	CTBP1	TBCK	SC5D	PCLO	BBIP1	CHRNG	MECP2	SZT2	FANCB	STIL	FBXL4	SASS6	NSDHL	UBE2T	DNM1	HNRNPU	UGDH	RBMX	RIT1	PHC1	CACNA2D1	CDK19	IPO8	IDH1	FBXO28	CEP19	DPYD	MVK	IFT140	COL11A2	SPECC1L	DHCR7	TBC1D2B	GLI3	NPHP1	BBS5	KIF14	SOS2	LIG4	ZMPSTE24	MED12	GJA1	RREB1	NALCN	RRAS	BMP2	ACTL6B	KDM5B	CD96	PHOX2B	MED12L	DDR2	KMT2C	B9D2	PSMD12	YY1	SMO	AGO2	TGFB2	PACS1	C2CD3	MAN1B1	RAD51C	PIEZO2	HRAS	POLR1A	SKIC3	APC2	FOXL2	ZFHX4	RTL1	ADAMTS2	CENPJ	CDC42	FOXP1	FANCA	ATR	MED13L	SETD1A	PRRX1	GATAD2B	PDE4D	SLC2A10	CLIP2	FIG4	TUBB	KANSL1	XRCC4	NCAPD3	ZC4H2	GPC6	RFWD3	ACTG1	DPF2	MID1	NUAK2	CIT	ZNF148	PAX3	ZIC2	BBS2	TAF13	SOX9	PRKAR1B	CCNK	SLC9A7	BUB3	KDM4B	EBP	TMEM147	CSGALNACT1	SPTBN1	TFAP2A	KIF7	KMT2E	ADAMTS3	NAA20	PWRN1	NRAS	RTTN	GNB2	FGFR3	PWAR1	ZMYND11	COLEC10	GMNN	ARHGEF2	SOX11	SPRED2	CNOT2	TASP1	EXOC2	RAPSN	CDK10	DGCR8	SMS	CDK6	SCARF2	DDB1	PEX5	LTBP1	UQCC2	ADARB1	B3GLCT	NFIB	ATRX	CDK13	AARS1	TRAK1	CDK5RAP2	COMT	PDGFRB	AFF4	ELN	ERCC1	FTSJ1	AKT1	KIFBP	POLA1	KDM6A	ASPM	IFT27	IFT57	PHF8	ATRIP	CHRNA7	PIGT	ALX4	AP1S1	HUWE1	ERCC4	ZSWIM6	TENM3	SET	HBA2	CEP135	SLC29A3	RBBP8	RLIM	TLK2	OCRL	BBS4	AUTS2	PLPBP	CELF2	KCNN3	KCNE5	POGZ	NFIX	DACT1	COL25A1	EIF5A	CLCN3	AFF3	SOX5	MYMX	MPDZ	HIVEP2	CTNND2	LMNA	DDX59	CACNA1B	FANCD2	BBS10	BBS12	MCM7	PYCR2	TNRC6B	CNKSR2	ARID1B	MTOR	COL11A1	LZTFL1	THUMPD1	GTF2IRD1	H4C9	CEP57	UBE3A	PRPS1	MYL11	TWIST1	PLOD1	RBPJ	DMXL2	MAPRE2	WDPCP	BCL11A	TRIP12	CNTNAP2	SLC38A3	LETM1	KNL1	FBXO11	IQSEC2	BRF1	SLX4	RAB11B	TBCD	DYRK1A	TXNL4A	EED	MKS1	RFC2	EFEMP2	DDX6	TBL2	GATA1	PACS2	PUS7	BLTP1	TUBB3	GTF2I	FHL1	TFE3	SIAH1	ZMYM2	ALDH1A2	WDR62	RNF135	NELFA	HHAT	ADAMTSL2	STX1A	DNAJC30	NPAP1	ESCO2	ESS2	ZNF292	CDC42BPB	ASPH	BCR	ATP6V1E1	DYNC1H1	RIPK4	PTCH1	NR2F1	YWHAE	KAT8	PCDHGC4	TELO2	H4C5	SNORD116-1	CACNA1G	LMX1B	DALRD3	FGF3	CHST3	TOR1A	ALG14	PEX10	EIF2AK3	PRIM1	SYT1	SF3B2	HERC1	ARL6	IL6ST	RAD21	DNAJC21	INTS1	RASA2	GABRG2	HNRNPH2	IRX5	TP63	PKDCC	RAB3GAP2	ABAT	STT3A	DYNC2LI1	PIK3CA	PEX14	IFT172	TMEM237	GRIN2D	BBS7	GTF2IRD2	LIMK1	MSL3	BBS9	PIGL	SCNM1	TMEM270	COPB1	METTL5	GABBR2	TBR1	OTUD5	UBA5	NUS1	RYR1	SLC1A2	SEPTIN9	CLTCL1	RPS28	RAD51	UFD1	ARID2
HP_RETINAL_FOLD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_FOLD	LRP5	KIF11	NDP	ZNF408	TSPAN12	FZD4	ATOH7	CTNNB1	TUBGCP6	PRSS56
HP_ABNORMAL_MORPHOLOGY_OF_THE_CONJUNCTIVAL_VASCULATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_THE_CONJUNCTIVAL_VASCULATURE	ERCC2	ANO10	ACVRL1	MANBA	GNAQ	ERCC4	GLA	SETX	ATM	ENG	GDF2	MASP1	RNF168	CTSA	SMAD4	DDB2	FUCA1	PCNA	PEX6	ERCC5	ERCC3	LIG1	XPC	XPA
HP_APLASIA_HYPOPLASIA_AFFECTING_THE_EYE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_AFFECTING_THE_EYE	PIGN	BCOR	EOGT	SDHB	MEF2C	ALDH1A3	AP3D1	SEMA3E	FANCB	VPS37D	POU1F1	HS2ST1	ARSL	RARB	NDE1	UBE2T	ALX1	HNRNPU	OCA2	RPGRIP1	VHL	ATOH7	ZNF699	HYLS1	FKTN	B9D2	ZIC1	B3GALNT2	BMP4	PITX2	NEFL	NDUFB11	FRAS1	NDP	SALL4	DPYD	FOXC1	FZD4	GDF6	FKRP	SPOP	COL18A1	HPS6	RNF113A	DHCR7	MITF	FAM111A	FBXW11	GLI3	GP1BB	ATF6	FH	PDE6C	SMARCA2	CRYAA	TBL1XR1	TUBA8	ZEB2	DOCK6	GPR161	ERCC4	GJA1	RREB1	PLK4	POMK	MAX	HMX1	FANCC	DAG1	RPGRIP1L	TCTN1	SCN1A	HSPG2	CTNNB1	FREM2	MIR184	PALB2	ADAMTS10	CFAP418	AP2M1	CHUK	KRAS	POLR3A	POMT1	PAX6	MFRP	YAP1	MLXIPL	BRCA2	BEST1	ERCC5	SMCHD1	NOTCH1	TXNDC15	TRIP13	CHN1	FREM1	TUBGCP4	CEP290	SMO	ERCC8	GDF3	KIF11	SHH	TBX1	KNSTRN	MKS1	APC	SRD5A3	ELOVL4	GMPPB	C12orf57	FKBP6	ARNT2	RAD51C	ATAD3A	TBCE	LARGE1	HNRNPK	GTF2E2	POMGNT1	SOX3	PTCH1	FOXL2	GLI2	LHX3	FANCF	BLOC1S3	MAD2L2	TMTC3	ATN1	DDHD2	CHD7	FANCA	TRIM28	COL4A1	WT1	GATAD2B	RECQL4	GRIA4	MACF1	POMGNT2	CLIP2	PIK3R1	BRIP1	VAX1	TUBB	NEU1	SDHA	CEP120	DLX5	ERCC6	RFWD3	ACTG1	MAFB	NUAK2	WNT10B	FBN1	MT-CYB	RXYLT1	PPP1CB	FOXE3	CRPPA	DLX6	POMT2	HCCS	CPAMD8	PHYH	ITPR1	LETM1	CPLX1	BUB3	IKBKG	EBP	RERE	ERF	SIX6	CHD2	LYST	SLC24A5	MED12	RTTN	TMEM127	GNAT2	BDNF	LHX4	IGF1R	FBXW4	MDH2	CACNA1F	NAA10	POLR1D	TCTN3	TCOF1	INTU	HESX1	NSD2	MAP2K2	BRCA1	EXOC2	TMEM67	TBC1D20	TYR	TSPAN12	CSPP1	DONSON	LRP5	MPLKIP	RBPJ	ARHGAP31	ALX3	SLC25A11	CENPF	RB1	OTX2	FANCI	KIF15	WNT3	ADAMTSL1	TBX15	KERA	KIF1B	WDR37	TMEM98	VAC14	COMT	BAZ1B	RMRP	ELN	ERCC1	ANKRD11	ABCB6	PRPH2	NRAS	COL2A1	SEC24C	B4GAT1	MC1R	ACTB	CASK	CDON	SON	SPECC1L	EIF4H	COX7B	KIF14	ALX4	GPR143	HRAS	MAPRE2	TENM3	RHOA	GJA8	LAMB2	RAX	OCRL	PRR12	FGFR1	IFT74	LDHD	RAB3GAP1	ZPR1	PUF60	PRSS56	TP63	POGZ	FOXA2	PTF1A	SYNGAP1	FDFT1	NFIX	CNGA3	DACT1	BUB1	ERCC2	STRA6	DLST	VPS35L	ELP4	GLYCTK	KCNK4	MPDZ	PEX7	HDAC6	VSX2	ABCA4	LTBP2	POLR1C	RAB18	WDR11	TCTN2	FANCD2	PAX3	ZNF408	SOX2	TMEM107	TRIM44	CTBP1	MTSS2	METTL27	TKFC	RET	DLL4	SMG9	PITX3	FGF3	H19	FANCE	FGFRL1	TONSL	SMOC1	BLOC1S5	SEM1	HPS4	GTF2IRD1	NHS	BUB1B	HMGB3	PTPN23	PDE6D	XYLT2	FOXC2	RPGR	FANCL	GTF2H5	PROKR2	CTDP1	MAB21L2	BCL7B	NEXMIF	VPS13B	NCF1	BTRC	RAB3GAP2	DIS3L2	LMX1B	PRPS1	SYCE1	PIK3CD	TMEM237	MBTPS2	TMEM216	SMAD4	RFC2	LRP2	POU6F2	TBL2	PORCN	NF1	WDR73	TUBB3	GTF2I	KIF7	SUFU	PROP1	PCYT1A	B9D1	UGP2	SDHD	CNGB3	ALDH1A2	PHGDH	TFAP2A	RNF135	ROBO1	PQBP1	EPG5	XRCC2	HHAT	REST	STX1A	SLC45A2	SLC2A1	PAX2	DNAJC30	PTCH2	ESCO2	ERCC3	CDC42BPB	CEP57	ASPH	EPS15L1	OSGEP	RIPK4	FIG4	CEP85L	MYO5A	SCN8A	HIRA	CAPN15	STAG2	TUBA1A	DOCK7	CACNA1C	SETD5	ALDH6A1	PPP2R1A	CRB1	TOGARAM1	TARS1	DNMT3A	ARVCF	SDHC	GPC3	SLC38A8	RBP4	PRIM1	SF3B2	POLR1B	CARS1	BUD23	DCT	INTS1	SNAP29	SLC25A24	NUP188	HPS5	SIX3	ARX	TMEM231	COX14	GJA5	PIK3CA	GRIP1	PROM1	LMBRD2	FANCM	NR2F1	SLX4	SOX10	PLXNA1	GTF2IRD2	LIMK1	MAF	RBBP8	MED13L	STIM1	PDE6H	TMEM270	FANCG	JAM3	TRIT1	SIN3A	JMJD1C	TBR1	OTUD5	PIEZO2	MED25	SALL1	CC2D2A	VSX1	SLC6A1	RAD51	UFD1	TUBGCP6	RSPO2	SDHAF2
HP_APLASIA_HYPOPLASIA_AFFECTING_THE_FUNDUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_AFFECTING_THE_FUNDUS	HNRNPK	MEF2C	AP3D1	PAX6	IKBKG	POU1F1	GLYCTK	CDC42BPB	KCNK4	ARSL	NDE1	HNRNPU	OCA2	ERF	FANCB	POMGNT1	ATOH7	MPDZ	LHX4	FKRP	LYST	CEP85L	SLC24A5	ZIC1	ABCA4	RTTN	OTX2	MYO5A	SCN8A	GNAT2	STAG2	B3GALNT2	WDR11	NEFL	CACNA1F	TUBA1A	SALL4	TRIM44	DPYD	FOXC1	CACNA1C	MTSS2	PROP1	HESX1	GDF6	PROKR2	POMT2	PPP2R1A	MAP2K2	SPOP	COL18A1	HPS6	RNF113A	EXOC2	ATF6	SOX2	TYR	DNMT3A	PUF60	PDE6C	BLOC1S5	SLC38A8	CENPF	HPS4	ALDH1A3	TUBA8	GPR161	FANCI	WNT3	DDHD2	NFIX	PTPN23	DCT	HMX1	RPGR	SNAP29	HPS5	CFAP418	ANKRD11	POLR3A	PRPH2	NDP	POMK	PROM1	SIX6	CHN1	MC1R	NR2F1	CASK	CDON	SON	PTF1A	PLXNA1	GDF3	KIF14	FKTN	GLI2	MAF	KNSTRN	PRPS1	GPR143	APC	PIK3CD	ELOVL4	GMPPB	ARNT2	MBTPS2	ATAD3A	SLC45A2	FZD4	LAMB2	SOX3	PDE6H	POMT1	LHX3	PRR12	FGFR1	TRIT1	BLOC1S3	IFT74	TUBB3	ZPR1	OTUD5	WT1	GATAD2B	MED12	GRIA4	MACF1	LARGE1	UGP2	CNGB3	POGZ	ALDH1A2	FOXA2	SRD5A3	RNF135	ROBO1	NEU1	FDFT1	EPG5	CNGA3	MAFB	RSPO2	PPP1CB	CRPPA
HP_APLASIA_HYPOPLASIA_OF_THE_OPTIC_NERVE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_OPTIC_NERVE	HNRNPK	MEF2C	POU1F1	GLYCTK	PAX6	CDC42BPB	KCNK4	ARSL	NDE1	HNRNPU	ERF	FANCB	LHX4	FKRP	CEP85L	ZIC1	RTTN	OTX2	SCN8A	STAG2	B3GALNT2	WDR11	NEFL	TUBA1A	SALL4	CACNA1C	PROP1	HESX1	GDF6	PROKR2	POMT2	PPP2R1A	MAP2K2	SPOP	RNF113A	EXOC2	SOX2	DNMT3A	PUF60	CENPF	ALDH1A3	TUBA8	GPR161	FANCI	WNT3	DDHD2	NFIX	PTPN23	SNAP29	ANKRD11	POLR3A	POMK	SIX6	CHN1	NR2F1	CASK	CDON	SON	PTF1A	PLXNA1	GDF3	KIF14	FKTN	GLI2	KNSTRN	PRPS1	APC	PIK3CD	GMPPB	ARNT2	MBTPS2	ATAD3A	POMGNT1	SOX3	POMT1	LHX3	FGFR1	TRIT1	IFT74	TUBB3	ZPR1	OTUD5	WT1	GATAD2B	MED12	GRIA4	MACF1	LARGE1	POGZ	ALDH1A2	FOXA2	SRD5A3	RNF135	ROBO1	FDFT1	MAFB	RSPO2	PPP1CB	CRPPA
HP_APLASIA_HYPOPLASIA_OF_THE_RETINA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_RETINA	PAX6	TYR	AP3D1	PRPH2	NDP	IKBKG	PROM1	MC1R	OCA2	POMGNT1	ATOH7	MPDZ	LYST	SLC24A5	ABCA4	MYO5A	GNAT2	GDF3	MAF	CACNA1F	GPR143	ELOVL4	TRIM44	DPYD	FOXC1	MTSS2	GDF6	SLC45A2	FZD4	LAMB2	PDE6H	COL18A1	HPS6	ATF6	PRR12	BLOC1S3	PDE6C	BLOC1S5	SLC38A8	HPS4	WT1	UGP2	DCT	CNGB3	HMX1	RPGR	NEU1	EPG5	CNGA3	HPS5	CFAP418
HP_APLASIA_HYPOPLASIA_AFFECTING_THE_ANTERIOR_SEGMENT_OF_THE_EYE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_AFFECTING_THE_ANTERIOR_SEGMENT_OF_THE_EYE	CPAMD8	CSPP1	DNAJC30	ITPR1	SDHB	LETM1	FANCB	CPLX1	ELP4	VPS37D	PITX2	HS2ST1	UBE2T	RPGRIP1	VHL	EPS15L1	WT1	TXNDC15	B9D2	TMEM127	LTBP2	TCTN2	BDNF	PAX3	IGF1R	FBXW4	MDH2	NDP	PAX6	TCTN3	TMEM107	SALL4	TRIM44	FOXC1	CTBP1	METTL27	NSD2	RET	FGF3	BRCA1	MITF	H19	TMEM67	FBXW11	FGFRL1	TONSL	FH	SDHC	GPC3	SEM1	SLC25A11	GTF2IRD1	FANCF	ADAMTSL1	KIF1B	BUD23	PIK3R1	MAX	XYLT2	HMX1	TRIM28	MKS1	COL4A1	TCTN1	MIR184	PALB2	ADAMTS10	BAZ1B	TMEM231	ELN	BCL7B	MLXIPL	BRCA2	COL2A1	NCF1	CHN1	BTRC	FANCM	CEP290	SLX4	SOX10	EIF4H	DIS3L2	LMX1B	GTF2IRD2	LIMK1	ERCC4	FANCL	FAM111A	FKBP6	TMEM237	HHAT	TMEM216	RAD51C	RFC2	STIM1	FANCD2	LAMB2	LRP2	POU6F2	FOXE3	TBL2	TMEM270	PORCN	NF1	PRR12	WDR73	MAD2L2	LDHD	FBN1	GTF2I	FANCA	FANCI	ERCC6	TRIP13	FANCE	B9D1	FANCG	TP63	CLIP2	SDHD	BRIP1	CC2D2A	FGFR1	VSX1	SDHA	DLX5	RAD51	RFWD3	MAFB	XRCC2	REST	FANCC	STX1A	WNT10B	DLST	MT-CYB	SDHAF2	RPGRIP1L	DLX6
HP_APLASIA_HYPOPLASIA_OF_THE_LENS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_LENS	CPAMD8	LTBP2	FGF3	LMX1B	XYLT2	HMX1	FBXW11	PRR12	COL2A1	FBN1	TONSL	NDP	ADAMTS10	MT-CYB	FOXE3
HP_ICHTHYOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ICHTHYOSIS	NLRP3	PHGDH	ALOX12B	CCDC141	FGF17	CYP4F22	KRT2	GJB2	TMEM43	TGM1	LSS	FGF8	PEX7	PEX13	KRAS	EMD	SEMA3A	DCC	CSTA	SYNE2	SREBF1	ELOVL4	ABCA12	STS	ALOXE3	PEX3	FHL1	SUMF1	FLG	PEX1	KRT1	MBTPS2	SHOC2	SLURP1	EBP	GTF2H5	MAP2K2	STIM1	ARSL	PSAT1	ELOVL1	KRT10	PEX5	DUSP6	VIPAS39	MPLKIP	LMNA	PNPLA1	RIN2	VPS33B	FITM2	SLC27A4	SRD5A3	PEX16	GINS1	PEX6	ABHD5	GTF2E2	SULT2B1	MSMO1	KRT9	CHKB	NDNF	PHYH	TACR3	AHSG	ANOS1	SPRY4	AP1B1	DOLK	FLRT3	SDR9C7	LIPN	CERS3	TGM5	ASPRV1	NOD2	COL4A5	POMP	ERCC3	PROK2	PEX19	CHD7	AP1S1	SGPL1	PEX2	CARMIL2	GNB2	SLC29A3	BRAF	SRP54	MARS1	SBDS	NEK9	ITGB6	HESX1	TARS1	HS6ST1	PIGA	IL2RB	NIPAL4	CARS1	SNAP29	SYNE1	SPINK5	ST14	GJB6	ERCC2	TMPRSS6	RNF113A	CWC27	PEX10	CLDN1	CARD14	ALDH3A2	FEZF1	DSP	KANSL1	FGFR1	DNAJC21	ORAI1	IL17RD	GBA1	PEX11B	NRAS	PIGL	PEX14	EFL1	SMARCA2	SOX10	NSDHL	MAP2K1	PROKR2	LORICRIN	PEX12	HRAS	PEX26	MPDU1	KDSR	WDR11
HP_APLASIA_HYPOPLASIA_OF_THE_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_SKIN	UBA2	COL7A1	EOGT	MGP	COL1A1	CHRNG	KRT2	CUL4B	ZNRF3	LMNA	COL3A1	PRKAR1A	COL5A2	C1R	TMTC3	FBN1	TERT	NOTCH1	ZMPSTE24	NDUFB11	TGFBR1	PLOD1	CTBP1	IFT140	DLL4	ENPP1	SMAD2	NSD2	TP53	ALDH18A1	COX7B	POLD1	FGFRL1	TWIST2	IPO8	COL1A2	ARFGEF2	NHP2	SLC39A13	HCCS	EDA	ITGA6	RECQL4	TGFBR2	B4GALT7	DOCK6	TNFRSF11A	NOP10	PARN	POLH	MMP1	ERCC4	COL6A3	RTEL1	TINF2	CPLX1	TAF1	MSX2	NFIX	BMS1	SLC29A3	COL12A1	ERCC3	DSE	MTX2	RBPJ	POLR3A	PLEC	FERMT1	DDR2	SLC2A10	SMAD3	ERCC5	KLHL24	EDAR	FKBP14	TP63	HSPA9	LETM1	USP8	ABCC6	TGFB2	UBR1	COL6A2	ARHGAP31	EDARADD	PPARG	ALX4	KRT14	ABL1	USB1	XPC	CTC1	DKC1	RBCK1	CTSC	PORCN	CHUK	WRN	NPM1	SOX18	PIGG	ERCC6	KRT5	CDH23	PROS1	DSP	PROC	PRKD1	PIK3R1	AEBP1	WNT10A	USP48	ANTXR2	TFAP2A	DHCR24	SPEN	ARF1	GSN	NELFA	TERC	ATP6V1B2	SMARCAD1	ITGB4	SATB2	C1S	PPP1CB	ATM	GNA11	KRAS	NEDD4L	COL17A1	DHX30	LAMB3	MVK	PTDSS1	ERCC2	CARMIL2	PMVK	KCTD1	ADAMTS2	LAMA3	WRAP53	PDE8B	CAV1	DDB2	XPA	UBE3B	PDE11A	ADAMTSL2	PYCR1	BRAF	ORC1	MAP1B	NR3C1	MTAP	TRAF6	COL5A1	SMO	KDF1	TCIRG1	CTNNB1	FLNA	PDGFRB	TYMS	ARL6IP6	TNXB	LRP1	CHST14	LIFR	ATRX	LAMC2	PRKACA	B3GALT6	GNAS	MCTP2	ADA2	CDKN2A	LEMD3	DLG4	ERMARD	FMR1	COPB1	ARMC5	MYH3	ACD	ANAPC1	GORAB	ALG9	PEPD	COL6A1	AIP
HP_ABNORMAL_BLISTERING_OF_THE_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLISTERING_OF_THE_SKIN	FOXP3	COL7A1	ITGB4	KRT6B	IKBKG	ITGA3	KRT2	TNFSF11	SLC39A4	RERE	COL17A1	IL10	UROD	JUP	GABRD	KRT5	LAMB3	CASZ1	GJB3	DSG1	HLA-B	DSG3	ITGA6	KRT14	LAMA3	WRAP53	TLR4	TERT	FBXO28	PLEC	KRT6A	PRKCZ	SPEN	C4A	ECM1	LAMC2	KIT	DSC3	COL2A1	IL12A	ASXL1	SKI	HLA-DQB1	KRT1	STAT4	CYP26C1	HSPG2	IL23R	GJB4	DKC1	ANAPC1	CD151	BRAF	MEFV	NHP2	KRT9	RECQL4	NOP10	PARN	GATA1	CLCN7	MMP1	KRT10	KRT17	TET2	UROS	KRT16	TINF2	MMP23B	PPOX	CLTRN	RTEL1	BLM	TYMS	ERAP1	FERMT1	KLHL24	CCR1	CSTA	GJA1	DSP	SNX10	UBE4B	AQP5	PKP1	TGM5	KDSR	IFNGR1	PRDM16	CPOX	LUZP1	DST	IKZF1	CBL	KLRC4	USB1	CTC1	RUNX1	HLA-DRB1	PDPN	NPM1	TCIRG1	SMARCAD1	KCNAB2	UBAC2	SRSF2	IL12A-AS1	NAXD	FAS	TERC	SLC6A19
HP_ABNORMALLY_LAX_OR_HYPEREXTENSIBLE_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALLY_LAX_OR_HYPEREXTENSIBLE_SKIN	MAN1B1	COL1A1	IARS1	VPS37D	FGF20	PRDM5	COL3A1	B3GALT6	RIT1	COL5A2	C1R	FBN1	LTBP4	NSD1	TNXB	EXOC6B	IPO8	FBLN5	ALDH18A1	MEG3	PITX2	KRAS	LTBP1	FLNA	FGFR2	PLOD1	ATP6AP2	METTL27	IFT140	ENPP1	ELN	XYLT1	MEGF8	ATP6V1A	OSMR	ATP6V0A2	TWIST2	COL1A2	SLC39A13	GTF2IRD1	SLC6A8	EXT1	B4GALT7	SHOC2	BCL11B	SKI	PIK3R1	RTEL1	XYLT2	PEX1	TINF2	LZTR1	CD96	MAP2K2	DSE	BCL7B	SLC2A10	MLXIPL	KMT2C	RPS6KA3	TRPS1	NCF1	FKBP14	COL12A1	SPINT2	FGFR3	SUZ12	CSTA	GGCX	ABCC6	YY1	EFEMP2	RIN2	TGFB2	SRD5A3	FKBP6	KIAA0586	DLK1	MRPS16	HRAS	RFC2	DKC1	IFT43	TBL2	GATA1	RTL1	CSPP1	NEPRO	ADAMTS2	ZNF469	RAF1	GTF2I	TUBB	CFTR	ATP7A	WDR81	CLIP2	AEBP1	FIG4	CEP55	GSN	STX1A	GBA1	H1-4	MRAS	C1S	TGM5	PAX2	DNAJC30	AARS1	EZH2	B4GALT1	ATP6V1E1	NDUFB11	PTEN	PTDSS1	GNB2	GPX4	NBAS	H4C5	WDR19	BRAF	MRPS22	ALG12	FOXC1	SMARCA2	AKT3	ADAMTSL2	PYCR1	TERT	CHST3	INSR	FGD1	SLC26A2	BUD23	EED	ANTXR1	WDR37	COL5A1	CDK13	SLC25A24	VAC14	PDGFRB	ASXL1	BAZ1B	PARN	ATP6AP1	SH3PXD2B	SON	TBL1XR1	CHST14	GORAB	EIF4H	NAA10	COG7	GTF2IRD2	LIMK1	MAPRE2	NDUFB10	SMARCD2	NPR2	HPGD	WDR35	TBX15	SLC7A7	TMEM270	WLS	OTUD5	B3GAT3	PUF60	MAP2K1	ACD	EHMT1	ALG8	PTPN11
HP_NEOPLASM_OF_THE_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_SKIN	PMS1	CD28	SMARCE1	AP3D1	BLM	TSC1	GJB2	SDHD	APC	CTLA4	BAP1	NF1	STAT1	PDGFRB	PRKAR1A	NUTM1	STK4	DOCK8	RSPO1	TCF3	IL6	PTCH2	SEC23B	MC1R	SLCO2A1	KIT	ATP2A2	ECM1	CDK4	KRT17	SLC17A9	PTEN	TNFRSF1B	TMC6	OCA2	FLCN	MLH1	RASGRP1	MSH2	HPGD	MSH6	COL7A1	FDPS	SMARCAD1	GNAS	CD4	FAN1	GATA2	SMO	PDGFB	SPRED1	RECQL4	POLH	MMP1	RMRP	UROS	ERCC4	ING1	KRAS	TPP2	FOXE1	TYMS	GTF2H5	CDKN2A	ERCC3	SNAI2	FH	NTHL1	IGHM	ERCC5	CREBBP	MVD	CTNNB1	GJA1	TINF2	MPLKIP	PIK3R1	SLX4	AKT1	CDKN1B	XPC	FASLG	PIK3CA	GTF2E2	NF2	CTSC	PTCH1	PORCN	GJC2	HRAS	TRPV3	POFUT1	SDHB	WRN	PSENEN	MVK	DKC1	SUFU	BRD4	KRT5	PLCD1	SMARCB1	GNA14	TMC8	TERT	RASA1	FGFR1	TERC	FLT4	SLC45A2	KRT6B	NRAS	PERP	KLLN	SPTBN1	BLNK	FAS	LAMB3	POGLUT1	BMPR1A	USF3	NLRP1	BRAF	GJB3	CARMIL2	PDE8B	DDB2	TNFRSF10B	IL7	KRT6A	MSH3	CYLD	XPA	ERCC2	WNT10A	PDE11A	IVNS1ABP	GJB4	TARS1	TYR	IFNG	DICER1	ATR	AAGAB	CIB1	FCN3	GATA1	CARS1	KRT16	CD79B	EPCAM	RPS20	SDHC	TNFRSF4	LRRC8A	GJB6	MEN1	SASH1	TGFBR2	RNF113A	NOTCH3	LRP1	PMS2	PRKACA	PRKCD	LAMC2	TRAF7	TP53	FERMT1	SASH3	DCLRE1C	CASP10	KDSR	GPR143	MBTPS2	COL14A1	SEMA4A	MLH3	STIM1	LMNA	TOM1	ALX3	OCRL	COL1A1	LAMA3	CXCR4	IGLL1	MITF	RHOH	ANAPC1	KEAP1	STK11	KRT14	CD79A	TSC2	EP300	IKBKG
HP_SPARSE_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPARSE_HAIR	UBA2	EOGT	PNPLA6	KAT6B	ODC1	IFT122	GJB2	AXL	ALX1	NHP2	ZBTB20	TGM1	LMNA	EDAR	AR	IPO8	NUP107	SMARCB1	RNU4ATAC	ZFPM2	TERT	ADAMTS3	KRAS	SMARCE1	SETD2	GNPTAB	PIGL	IFT140	KRT71	ATP6V1A	RNF113A	TSR2	DSG4	ATP2B1	ATP6V0A2	CYP17A1	TWIST2	SMARCA4	SRY	SKIC2	GJB6	NOP10	LIG4	SPIDR	MBTPS2	RECQL4	EXT1	PERP	ALOX12B	B4GALT7	ZMPSTE24	DOCK6	WWOX	MED12	GJA1	PARN	AXIN2	PCNT	RTEL1	EDARADD	TINF2	TAF1	TYMS	ARID1B	CREBBP	POLR3A	HS6ST1	H3-3B	MTX2	NOTCH1	TRPS1	LIPH	SNRPE	DPH1	KRT74	HSPA9	NSUN2	USP8	DSP	NECTIN1	RIN2	WT1	WDR11	ASXL3	HRAS	CTC1	DPH5	GTF2E2	IFT43	SULT2B1	CTSC	SKIC3	APC2	FOXL2	ARID1A	HLA-DRA	NTRK1	WRN	WNT10B	NPM1	AP1B1	EPS8L3	CDH23	GNRHR	FIG4	USP48	SMARCD1	DPF2	SDR9C7	LIPN	LPAR6	SATB2	PPP1CB	PCGF2	DMRT3	EXOSC2	SREBF1	IKBKG	KDM4B	EBP	TMEM147	MAF	ATP7A	KRT17	COL17A1	JUP	PTDSS1	EDA2R	NF1	GNB2	KCTD1	IGF1R	WRAP53	NR0B1	ERCC8	ATR	SPRY4	KRT86	SOX11	FRMD4A	SOX18	SPRED2	MAP2K2	CWC27	MARS1	OFD1	UBE3B	CSGALNACT1	CBL	APCDD1	GATA4	NSD1	GNRH1	KRT85	MSX1	ABCA12	MPLKIP	RBPJ	ARHGAP31	B3GALT6	NSMF	ITGB4	FSHR	CDSN	ANTXR1	WDR35	SPINK5	TRMT10A	BLM	VAC14	FSHB	RMRP	HR	KIFBP	LSS	GATAD2B	ATRX	PHF6	ATRIP	HRURF	PROK2	PKP1	FLNA	ALX4	CLDN1	ST14	FGF8	CBS	RBBP8	SLC7A7	CARS1	OCRL	FAS	SMARCA2	EZH2	NDUFA6	FGF17	EDA	KANK2	ACD	MED25	POGZ	BCORL1	ASPRV1	CCDC141	ERCC2	FMR1	TERC	CEP152	DCLRE1B	EIF5A	MGAT2	CYP4F22	ITGA3	KRT83	SHOC2	EDNRA	CHD7	NR5A1	PSMC3IP	CDH3	POP1	CCBE1	MRPS22	XRCC4	RNU12	FAT4	CDH1	HOXC13	DLL4	DSC3	XYLT1	TP53	ALDH18A1	PI4KA	TBX3	THUMPD1	KREMEN1	KDM1A	CEP57	TP63	PIK3R1	POC1A	KISS1	GTF2H5	PRPS1	TRPV3	KRT81	NFKBIA	TRAIP	RPL21	SEC23A	KRT25	MAPKAPK5	KLHL24	GTPBP2	STING1	CANT1	PSMB8	PPP1R15B	DUSP6	EXT2	BRF1	TCOF1	DLX4	UBR1	SMAD4	WDR19	COL11A1	USB1	DKC1	SMARCC2	BMP15	POLR3H	NEPRO	TACR3	ANOS1	TAC3	AHSG	ERCC6	DOLK	PRKD1	WNT10A	TSPEAR	SOX9	BICRA	TFAP2A	PQBP1	DSG1	GSN	CENPE	CENPJ	CYB5A	SEMA3E	HPD	ESCO2	ERCC3	TTC7A	CDC42BPB	AARS1	MDM2	ATP6V1E1	FEZF1	RIPK4	BNC1	CAV1	PTPN22	C18orf32	MAP3K1	CACNA1C	BRAF	CLMP	CACNA1G	DNMT3A	ALDH6A1	SOX4	VAMP7	DHX37	NSRP1	NUP85	TOGARAM1	BRCA1	ITGB6	TARS1	ANAPC1	IFT52	NRAS	SRA1	LAMB3	PYCR1	SF3B4	PRIM1	NR3C1	HDAC4	PDGFRB	NFIX	TRAF6	CKAP2L	DNAJC21	ALOXE3	KDF1	CST6	SLC25A24	KMT2B	NIPAL4	IRX5	BANF1	ARID2	ZSWIM7	CAMK2B	LIFR	DPH2	MESD	PLK4	LAMA3	PPP2R3C	CRIPT	DCAF17	NECTIN4	FGFR1	KISS1R	WLS	LHB	ORC6	MAP2K1	PROKR2	ADNP	PORCN	LAMC2
HP_MATERNAL_HYPERTENSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MATERNAL_HYPERTENSION	NOS3	CFH	NR3C2	HELLPAR	CD46	CFI	ASH1L	SPTBN1
HP_PROGRESSIVE_PES_CAVUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_PES_CAVUS	FHL1	UBAP1	ALDH18A1	ATP13A2	SLC33A1	KPNA3	WASHC5	KIF5A	RTN2	CAV3	CPT1C
HP_PES_VALGUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PES_VALGUS	SCN2A	MYPN	CDC42BPB	COL6A2	COL9A3	COL12A1	SLC16A2	TRIP4	PIGG	SMG9	PPP1R15B	FLNA	PCDH19	KDELR2	GNB2	MAP3K7	H4C5	TPM2	LONP1	TCF4	WDR19	CACNA1C	ANO1	MBD5	SPRED2	MYMX	CAPN1	SCN9A	HK1	SH3TC2	PUF60	TOR1A	COL6A3	RFT1	SCN1A	WAC	BSCL2	SYT1	GDF5	COL6A1	RAI1	REEP1	GABRG2	HNRNPR	GARS1	MAPK8IP3	GABRA1	TRMT10A	TPM3	SCN1B	FBN1
HP_ABNORMALITY_OF_THE_FIFTH_METATARSAL_BONE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_FIFTH_METATARSAL_BONE	TCF4	HEPHL1	HOXD13	RIPK4	GNAS	FLNA	CDC42BPB
HP_EQUINOVARUS_DEFORMITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EQUINOVARUS_DEFORMITY	SCYL2	ERGIC1	ATP6V1B2	TBC1D24	FARS2	LMX1B	SLC26A2	ERCC6	COL25A1	HADHA	PMP22	VPS13A	HADHB
HP_DEFORMED_TARSAL_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEFORMED_TARSAL_BONES	KANSL1	COL1A2	GDF5	TNNI2	EZH2	NALCN	PHGDH	TPM2	ATP6AP2	ECEL1	HOXD10	ZEB2	ADAMTSL1
HP_EQUINUS_CALCANEUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EQUINUS_CALCANEUS	AEBP1	GJB2	HADHA	HOXD10	FBN1	SYT1	GJB6	HADHB
HP_IMPAIRED_EPINEPHRINE_INDUCED_PLATELET_AGGREGATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_EPINEPHRINE_INDUCED_PLATELET_AGGREGATION	CALR	SH2B3	ITGA2B	ITGB3	GFI1B	MYH9	THPO	PLAU
HP_PERIODIC_HYPOKALEMIC_PARESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIODIC_HYPOKALEMIC_PARESIS	KCNJ5	KCNJ18	KCNJ2	CACNA1S	SCN4A	CA2	KCNE3	GABRA3	CDH23
HP_DECREASED_CIRCULATING_CORTISOL_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_CORTISOL_LEVEL	TBX19	QRSL1	CYP11A1	NF2	SMARCE1	POR	GATB	BAP1	MC2R	AAAS	PCSK1	MRAP	SMO	TRAF7	SUFU	GATC	ABCD1	PIK3CA	TERT	CYP11B1	STAR	SMARCB1	AKT1	NNT	SERPINA6	TXNRD2	GLI3	PDGFB	CYP17A1	HSD3B2	NR0B1	NFKB2
HP_VERY_LONG_CHAIN_FATTY_ACID_ACCUMULATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERY_LONG_CHAIN_FATTY_ACID_ACCUMULATION	PEX13	PEX6	PEX12	HSD17B4	PEX19	PEX3	PEX14	PEX10	PEX5	PEX1	PNPLA2	PEX16	PEX2	PEX11B	ABCD1	PEX26	ACOX1	ACBD5
HP_REDUCED_FACTOR_VII_ACTIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_FACTOR_VII_ACTIVITY	GGCX	AHCY	VKORC1	F7	SLC37A4
HP_MILDLY_ELEVATED_CREATINE_KINASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MILDLY_ELEVATED_CREATINE_KINASE	KBTBD13	KLHL41	MYH14	COL6A3	SCN4A	MICU1	CRPPA	CACNA1S	VCP	MTMR14	POLRMT	COL12A1	NEB	TIA1	POMT1	ADSS1	TRIP4	QRICH1	MYF6	MYH7	MPV17	FKTN	SCYL2	ERGIC1	GFPT1	TPM3	ACTA1	RYR1	TPM2	COL25A1	PEX6	SQSTM1	MATR3	ALG2	TFG	FKRP	UBA1	FLNC	TWNK	POLG	COL9A3	CHCHD10	PLEKHG5	MT-TL2	DOK7	DNM2	TTN	KCNJ18	KCNE3	MYPN	LMNA	HADH	MSTO1	GNE	MT-TL1	MT-TN	BIN1	MT-TE	COL6A2	TRMU	GABRA3	COL6A1
HP_ABSENCE_OF_SECONDARY_SEX_CHARACTERISTICS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENCE_OF_SECONDARY_SEX_CHARACTERISTICS	GNRH1	HS6ST1	CYP11A1	DMRT3	HESX1	TACR3	GATA4	FGF17	PROP1	OTX2	CYP17A1	TAC3	SRY	ESR1	NSMF	PROK2	CHD7	NR5A1	WWOX	DUSP6	LEP	LEPR	POLA1	GNRHR	POU1F1	LHX4	KISS1	GLI2	WT1	ZFPM2	FOXA2	SOX3	PROKR2	NR0B1	SOX9	FGF8	WDR11	CYB5A	VAMP7	FGFR1	KISS1R	SPRY4	MAP3K1	DHX37
HP_THYROID_DYSGENESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THYROID_DYSGENESIS	NKX2-1	PAX8	NKX2-5	LIFR	KAT6B	GLI3
HP_THYROID_AGENESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THYROID_AGENESIS	SLC26A4	TSHR	NKX2-5	PAX8	FOXE1	NKX2-1	KAT6B
HP_PRIMARY_GONADAL_INSUFFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMARY_GONADAL_INSUFFICIENCY	WFS1	EIF2B4	EIF2B2	NSMCE2	DMRT3	WT1	ZFPM2	GATA4	NR0B1	SOX9	CYP17A1	SRY	EIF2B1	EIF2B3	EIF2B5	CYB5A	VAMP7	XRCC4	NR5A1	WWOX	MAP3K1	DHX37
HP_ABSENCE_OF_PUBERTAL_DEVELOPMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENCE_OF_PUBERTAL_DEVELOPMENT	MAGEL2	GNRH1	HS6ST1	PROK2	TACR3	FGF17	TAC3	ESR1	NSMF	CHD7	DCHS1	KISS1R	DUSP6	NHLH2	ZMPSTE24	GNRHR	IL17RD	KISS1	PROKR2	SIM1	DHX37	CYP17A1	FGF8	WDR11	NR0B1	LMNA	FGFR1	SPRY4	FAT4
HP_PRIMARY_HYPERPARATHYROIDISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMARY_HYPERPARATHYROIDISM	GCM2	CDC73	MEN1	GNAS	ARMC5	AP2S1	CDKN2C	CDKN2B	CASR	CDKN1B	YY1	GNA11	CDKN1A
HP_REDUCED_CIRCULATING_PROLACTIN_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_CIRCULATING_PROLACTIN_CONCENTRATION	RBM28	NF2	SMARCE1	LHX3	GNAS	TRHR	IGSF1	POU1F1	BAP1	HESX1	SMO	DBH	TRAF7	SUFU	LHX4	PROP1	PIK3CA	TERT	SMARCB1	AKT1	PDGFB
HP_PRIMARY_ADRENAL_INSUFFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMARY_ADRENAL_INSUFFICIENCY	PEX6	NR3C1	CYP11A1	SMARCE1	HSD11B2	HSD17B4	GATB	PEX13	CYP11B1	PEX19	PEX14	NR3C2	TRAF7	SUFU	PEX3	PEX16	CYP11B2	KANSL1	PEX11B	ABCD1	PIK3CA	BAP1	TERT	PEX26	SCNN1G	SMARCB1	AKT1	TXNRD2	PEX1	TBX19	GLI3	PEX12	NR0B1	PEX5	AIRE	MRAP	NFKB2	QRSL1	NF2	PEX10	POR	TCTN3	SCNN1B	MC2R	AAAS	PCSK1	SMO	GATC	STAR	PEX2	NNT	SERPINA6	MRPS7	PDGFB	CYP17A1	HSD3B2
HP_PARATHYROID_HYPERPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARATHYROID_HYPERPLASIA	CDKN2C	CDKN1B	CDKN2B	TSC2	IFNG	MEN1	RET	TSC1	KL	CDKN1A
HP_PREMATURE_OVARIAN_INSUFFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_OVARIAN_INSUFFICIENCY	ZSWIM7	POLG	FOXL2	ERAL1	FIGLA	NR5A1	GGPS1	HFM1	PRKCD	C14orf39	FAS	SPIDR	BNC1	PSMC3IP	CASP10	TTI2	NBN	NUP107	POF1B	MRPS22	ANAPC7	EIF2B1	RIN2	SDCCAG8	FMR1	CHP1	NOBOX	DCAF17	AIRE	FASLG	HSF2BP	POLG2	EIF2B4	ZFHX4	TWNK	NPHP4	EIF2B2	AARS2	BMP15	POLR3H	CEP290	WDR19	RASGRP1	ANAPC1	GALK1	MCM8	NPHP3	INVS	EIF2B3	EIF2B5	B4GALNT1	ERCC4	PMM2	FSHR	THOC6	TRAF3IP1	DIAPH2	MCM3AP	CEP164	GALT	NPHP1	XRCC2	LMNA	LARS2	IQCB1	STAG3	BLM	COL25A1	RCBTB1
HP_GONADOTROPIN_DEFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GONADOTROPIN_DEFICIENCY	CHD7	PCSK1	POMC	LHX3	FGFR1	NKX2-1	FSHB	GLI3
HP_ADRENAL_HYPERPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADRENAL_HYPERPLASIA	TP53	NR3C1	CYP11B1	PRKAR1A	TBC1D24	PDE8B	PDE11A	CACNA1D	POR	ARMC5	STAR	BRAF	KCNJ5	ATRX	PRKACA	USP8	AIRE	CDH23	ATP6V1B2	HSD3B2	GNAS	USP48	CYP17A1	CLCN2	CYP11B2	CYP21A2
HP_FEMALE_INFERTILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEMALE_INFERTILITY	DNAH9	ZMYND10	SPAG1	DNAJB13	FOXL2	ZP1	TTC12	FIGLA	GGPS1	DNAAF11	LRRC56	RPGR	DNAI1	ZP2	GAS8	DNAH11	BTG4	CFAP221	DNAAF4	TUBB8	OFD1	RSPH4A	RSPH3	NEK10	POF1B	DNAL1	HYDIN	STK36	SPEF2	CFAP298	ODAD4	RSPH1	CFAP300	PATL2	MEI1	C11orf80	CCDC103	HSF2BP	MCIDAS	CCNO	RSPH9	FBXO43	ZP3	PANX1	GAS2L2	PSMC3IP	MSH4	DNAAF2	CCDC65	DNAAF3	DNAAF6	REC114	WEE2	PGR	MSH5	DNAAF5	TLE6	DNAAF1	TRIP13	ODAD3	FOXJ1	CCDC40	NME8	DRC1	CCDC39	CYP19A1	ODAD1	ODAD2	DNAI2	DNAH1	DNAH5	ASTL
HP_COMPENSATED_HYPOTHYROIDISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMPENSATED_HYPOTHYROIDISM	TANGO2	TREX1	NKX2-1	KCNJ10	SLC26A4	TG	THRB	FOXI1	TSHR
HP_ELEVATED_CIRCULATING_FOLLICLE_STIMULATING_HORMONE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CIRCULATING_FOLLICLE_STIMULATING_HORMONE_LEVEL	SRY	CYP11A1	DMRT3	ESR2	FOXL2	FIGLA	NR5A1	SHOC1	GDF9	C14orf39	SPIDR	ERCC6	ZSWIM7	FGD1	WT1	ZFPM2	NR0B1	GCNA	PPP2R3C	MCM9	VAMP7	FKBP6	DHX37	POR	GATA4	LHB	ZMYND15	CYP17A1	MCM8	PSMC3IP	MSH4	NSMCE2	CNBP	AR	MSH5	WWOX	DIAPH2	CBX2	SOX9	KISS1R	XRCC2	FANCM	STAG3	CYB5A	BMPR1B	BNC1	MAP3K1
HP_DECREASED_CIRCULATING_PROGESTERONE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_PROGESTERONE	EIF2B4	EIF2B1	EIF2B2	EIF2B3	EIF2B5	POR	FOXL2
HP_HYPOTHALAMIC_HYPOTHYROIDISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOTHALAMIC_HYPOTHYROIDISM	PIK3CA	BAP1	TERT	SMARCB1	NF2	SMARCE1	AKT1	PDGFB	SMO	TRAF7	SUFU	TRH
HP_SECONDARY_GROWTH_HORMONE_DEFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SECONDARY_GROWTH_HORMONE_DEFICIENCY	PIK3CA	BAP1	TERT	SMARCB1	NF2	SMARCE1	CDH23	AKT1	GLI3	MEN1	PDGFB	SMO	TRAF7	SUFU	AIP
HP_PSEUDOHYPOALDOSTERONISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSEUDOHYPOALDOSTERONISM	WNK4	KLHL3	NR3C2	CUL3	SCNN1A	WNK1
HP_PITUITARY_HYPOTHYROIDISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PITUITARY_HYPOTHYROIDISM	POMC	RBM28	NF2	SMARCE1	LHX3	HESX1	TRHR	CDH23	POU1F1	PROP1	GLI3	OTX2	MEN1	BAP1	TSHB	SMO	TRAF7	SUFU	LHX4	AIP	PCSK1	PIK3CA	TERT	LEP	LEPR	CTNNB1	SMARCB1	HID1	GLI2	AKT1	POU3F4	FOXA2	SOX3	BRAF	PDGFB	TMEM67	ARNT2
HP_TRANSIENT_NEONATAL_DIABETES_MELLITUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRANSIENT_NEONATAL_DIABETES_MELLITUS	HNF4A	KCNJ11	KLF11	BLK	ABCC8	HNF1A	PAX4	GCK	HYMAI	PDX1	INS	ZFP57	APPL1	PLAGL1	NEUROD1	CEL
HP_ADRENOCORTICAL_ADENOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADRENOCORTICAL_ADENOMA	CYP11B1	SCN4A	CDKN1B	MEN1	CACNA1S	APC	KCNE3	CLCN2	CYP11B2
HP_CONGENITAL_ADRENAL_HYPERPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_ADRENAL_HYPERPLASIA	CYP17A1	HSD3B2	STAR	CYP11B1	POR
HP_PANCREATIC_ISLET_CELL_ADENOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATIC_ISLET_CELL_ADENOMA	CDKN2C	KCNJ11	CDKN1B	MEN1	CDKN2B	MAFA	CDKN1A	VHL	CCND1
HP_THYROID_DEFECT_IN_OXIDATION_AND_ORGANIFICATION_OF_IODIDE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THYROID_DEFECT_IN_OXIDATION_AND_ORGANIFICATION_OF_IODIDE	IYD	TPO	DUOXA2	DUOX2	TG	SLC5A5
HP_ABNORMAL_LIGHT_ADAPTED_ELECTRORETINOGRAM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LIGHT_ADAPTED_ELECTRORETINOGRAM	PDE6C	GNAT2	ATF6	RPGR	CACNA1F	KIF3B	CNGA3	CNGB3	PDE6H	OPN1SW
HP_ABNORMAL_BLOOD_ZINC_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_ZINC_CONCENTRATION	SLC39A4	COL7A1	SLC7A7	MMP1	SLC30A2	IARS1	SLC39A8
HP_CEREBELLAR_CORTICAL_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBELLAR_CORTICAL_ATROPHY	ZPR1	TWNK	SIL1	SC5D	PLAA	SHANK3
HP_UNCONJUGATED_HYPERBILIRUBINEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNCONJUGATED_HYPERBILIRUBINEMIA	GATA1	UGT1A1	FARSB	NHLRC2	CASK	UROS	G6PD	HBB	PIGA	PKLR	RHAG	SLC30A10	KLF1
HP_FASTING_HYPERINSULINEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FASTING_HYPERINSULINEMIA	GLUD1	LMNA	CDKN1B	HADH	YY1	MEN1	PAPPA2	INSR	GCK
HP_PITUITARY_CORTICOTROPIC_CELL_ADENOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PITUITARY_CORTICOTROPIC_CELL_ADENOMA	CDH23	TP53	MEN1	USP48	BRAF	CDKN2C	ATRX	CDKN1B	CDKN2B	USP8	NR3C1	CDKN1A
HP_TRANSIENT_HYPERPHENYLALANINEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRANSIENT_HYPERPHENYLALANINEMIA	GCH1	IMPDH2	PCBD1	NR4A2	SPR
HP_DERMATAN_SULFATE_EXCRETION_IN_URINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DERMATAN_SULFATE_EXCRETION_IN_URINE	IDUA	IDS	ARSK	ARSB	GUSB
HP_EXERCISE_INDUCED_MYOGLOBINURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXERCISE_INDUCED_MYOGLOBINURIA	FKRP	ACADVL	PHKA1	PFKM	LDHA	PYGM	LPIN1	MT-CO1	PGK1	CRPPA	MT-CO3
HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_II	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_II	ISCU	MIEF2	NFS1	IBA57	SDHA	CHCHD10	SLC39A8	BOLA3	MECR	NFU1	SDHD	SDHB
HP_ABNORMAL_MITOCHONDRIA_IN_MUSCLE_TISSUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MITOCHONDRIA_IN_MUSCLE_TISSUE	MT-ND4	NDUFB10	NDUFS4	MT-ND5	NDUFAF2	NDUFS3	NDUFS7	NDUFS2	NDUFAF8	NDUFAF5	MT-CO2	NDUFV1	NDUFA11	NDUFA6	MT-CO1	MT-ND1	NDUFA1	MT-ND3	MT-TF	TIMMDC1	MT-ND6	FOXRED1	TMEM126B	NDUFS6	NDUFAF3	SDHA	MT-TH	MT-TL2	MT-TL1	NDUFV2	NDUFS8	NDUFB9	NDUFB11	MT-TS2	NDUFAF4	MT-CO3	NUBPL	NDUFAF1	MT-TN	MT-TW	MYH7	AFG3L2	MT-TQ	NDUFS1	MT-ND2	NDUFB3
HP_IMPAIRED_COLLAGEN_INDUCED_PLATELET_AGGREGATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_COLLAGEN_INDUCED_PLATELET_AGGREGATION	IKZF5	BLOC1S5	CALR	SH2B3	ITGA2B	NBEAL2	ITGB3	CISD2	GFI1B	LCP2	THPO
HP_ABNORMAL_MITOCHONDRIAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MITOCHONDRIAL_MORPHOLOGY	SPG7	MYH14	CHCHD10	TAFAZZIN	GGPS1	FUS	GYG1	LYRM4	TBK1	PET117	DNA2	MFF	FDXR	SLC25A3	C9orf72	MGME1	MRPS14	VCP	TARDBP	HSD17B10	SUCLG1	POLG2	SQSTM1
HP_ABNORMAL_LIGHT_AND_DARK_ADAPTED_ELECTRORETINOGRAM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LIGHT_AND_DARK_ADAPTED_ELECTRORETINOGRAM	PDE6B	CACNA1F	MT-ATP6	TTC8	GUCY2D	ZNF513	RGR	PRPH2	PPT1	RHO	POMGNT1	IDS	MCOLN1	LRAT	ADAR	PCYT1A	RDH5	CYP4V2	ALG3	PROM1	NUP62	MFRP	ACOX1	SAG	NR2E3	LARGE1	RPGRIP1	AIPL1	CERKL	IMPDH1	CLRN1	RP1	RP9	RPE65	USP45	BEST1	RLBP1	IDH3B
HP_ELEVATED_CREATINE_KINASE_AFTER_EXERCISE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CREATINE_KINASE_AFTER_EXERCISE	LDHA	DNA2	ALDOA	CACNA1S	DPM3	RYR1	SLC25A20	ACAD9
HP_DISTAL_RENAL_TUBULAR_ACIDOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_RENAL_TUBULAR_ACIDOSIS	SLC4A1	CLDN16	ATP6V0A4	CA2	HNF1B	GATA3
HP_INCREASED_RED_CELL_SICKLING_TENDENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_RED_CELL_SICKLING_TENDENCY	KLF1	HBB	HBG1	BCL11A	HBG2
HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_IV	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_IV	TK2	MRPS25	COX5A	RARS2	MIEF2	DGUOK	CARS2	COA5	NDUFA4	EARS2	TSFM	ISCU	COA6	COX6A2	COX20	SCO2	MRPS23	COA8	GFM1	TRMT5	MPV17	NSUN3	MRPS16	SUCLG1	VARS2	QRSL1	SLC25A4	TRIT1	CHCHD10	MRPL12	COA3	TIMM22	SLC39A8	LRPPRC	MECR	MRM2	COX4I1	COX16	GATC	PET117	AARS2	UQCC2	AIFM1	POLG	SLC25A26	RRM2B	MGME1	PET100	MRPS14	GTPBP3	MTRFR
HP_DECREASED_CIRCULATING_IGG2_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_IGG2_LEVEL	PIK3CD	ATM	CD247	EPG5	CD3G	ADA	CTPS1
HP_REDUCED_FACTOR_XIII_ACTIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_FACTOR_XIII_ACTIVITY	MAP2K1	F13A1	BRAF	F13B	SLC37A4	PTPN11
HP_APLASIA_HYPOPLASIA_OF_THE_HALLUX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_HALLUX	FLNA	LETM1	CPLX1	GJA1	HOXA13	ACVR1	FGFR1	FIG4	GDF5	MAP3K20	GLI3	MGP	ABCC9	SALL4	EIF4A3	CTBP1	NSD2	HOXD13	NOG	CHSY1	FGFR2	GPC4	BMPR1B	FGFRL1	IHH	PUF60	BMP2	PIGG	CHST11	KCNJ8	KAT6A	BHLHA9	NELFA	VAC14	PTHLH
HP_ABNORMALITY_OF_THE_CALCANEUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CALCANEUS	GFM2	KANSL1	FLNB	DLK1	COL1A2	TNNI2	SATB2	EZH2	FBN1	TPM2	GJB2	OBSL1	HADHA	LBR	HOXD10	ZEB2	HDAC6	SYT1	ADAMTSL1	MEG3	NALCN	PHGDH	CCDC8	ATP6AP2	AEBP1	DYM	RTL1	COL2A1	RSPRY1	ECEL1	FLNA	GJB6	HADHB
HP_ABNORMAL_TALUS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TALUS_MORPHOLOGY	ADAT3	ERCC6	TNNT3	TNNI2	PSAT1	ERCC2	KATNB1	CHRNG	PLAA	GLE1	MYH3	DOK7	HOXD10	CUL7	FIG4	AARS1	SCYL2	NDE1	ERGIC1	IPO8	ZC4H2	NUP88	PHEX	TELO2	MYBPC1	EN1	COL25A1	EPB41L1	POR	ATPAF2	SLC29A3	DPH5	SAMD9	BAP1	ARID1B	MUSK	EMG1	TPM2	WRN	PUF60	TOR1A	MAGEL2	OTUD5	H4C9	KIF14	ERCC5	CCDC8	SLC2A10	ZMPSTE24	OBSL1	SMPD4	PEX1	CLTCL1	FGFR2	PHGDH	EXOC7	NALCN	LMNA	RBM10	MYL11	NUP188	VAC14	RSPRY1	MAF	RELN	ERCC1	FLNA
HP_FOOT_JOINT_CONTRACTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOOT_JOINT_CONTRACTURE	EIF5A	ADAT3	JUP	FKRP	HLA-DRB1	TMEM43	ABCC9	POMT1	FKTN	SLC39A14	IPO8	CCR6	OPA1	PLEC	BCOR	EMD	SLC12A6	KIAA0319L	SYNE2	SGCG	FLNA	FHL1	SCARF2	MMP2	CCN2	GNS	ERCC4	LMNA	DDHD2	PTRH2	ERCC8	COL6A3	GLI3	PYROXD1	SYNE1	MYL11	COL12A1	MT-TE	HSPG2	DSP	KY	NOD2	JAG2	ERCC1	SGCA	CRPPA	REEP1	MYOT	ACTA1	CHRNG	LIFR	PHF6	COL7A1	MMP1	NT5C2	PIEZO2	MYH3	NSUN2	NGLY1	ERLIN2	PSMB8	HINT1	BRF1	PRG4	TTN	ZC4H2	PPP2R5D	COL6A2	TBC1D2B	CAV1	FGFR3	HRAS	SLC29A3	ALS2	TGFB3	DMD	KCNK9	IRF5	ABHD12	BCAS3	SLC25A4	PIGN	LARGE1	LMX1B	BICD2	COL6A1	AMER1	GJB1	ERCC6	MYBPC1	FBN1
HP_TARSAL_SYNOSTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TARSAL_SYNOSTOSIS	BMPR1B	OFD1	MYH3	FLNA	CHSY1	NOG	MKKS	POR	GDF5	TNNT3	TPM2	FGFR1	FBLN1	FLNB	NALCN	ATP7A	FGFR2	FGFR3	GLI3	GDF6	MAP3K7	TBX4	TNNI2	LMBR1	SMOC1
HP_ABNORMAL_TARSAL_OSSIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TARSAL_OSSIFICATION	HOXA13	MATN3	EBP	COL2A1	SLC35D1	PTH1R	EIF2AK3	CANT1	INPPL1
HP_ABNORMALITY_OF_VITAMIN_A_METABOLISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_VITAMIN_A_METABOLISM	MTTP	DNAJC21	FARSB	SEMA4D	GPR35	PKHD1	MST1	APOB	FOCAD	SLC51B	EFL1	SRP54	CYP7A1	DZIP1L	BCO1	TCF4	SBDS
HP_PUBERTY_AND_GONADAL_DISORDERS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PUBERTY_AND_GONADAL_DISORDERS	NLRP3	PROKR2	FGF8	MT-ND4	SEMA3E	VPS37D	POU1F1	RGR	CUL4B	IDH3A	PRPF4	ZBTB20	DUSP6	KISS1R	AR	BMP4	NUP107	PTPN11	HFE	PRKAR1A	SLC7A14	BRCC3	PCARE	POMC	H6PD	STEAP3	ZMPSTE24	GNAS	CYP17A1	PSMC3IP	SRY	LMNA	DCC	CNBP	TTC8	EIF2B5	MECP2	TRAF3IP1	CCDC141	GPR161	AIP	DHH	SLC39A4	IDH1	CAMKMT	LGR4	FANCC	HNRNPR	TWNK	PALB2	CREBBP	POLR3A	SLC3A1	ALMS1	BRCA2	VPS4A	ERCC5	ARL3	SMCHD1	CYP11B1	RP2	MEN1	AMACR	LEPR	BBS7	RIN2	PIGQ	WT1	IGF1	FKBP6	CRB1	FLII	MGME1	ATAD3A	EIF2B4	MSMO1	FGF17	LHX3	ZNF526	DHX37	MAD2L2	BBS5	NDNF	SLC37A4	CHD7	ENTPD1	HBB	SPRY4	RAI1	EIF2S3	RECQL4	GNRHR	SOX9	BRIP1	GALT	NNT	MRE11	PNPLA6	CAVIN1	SPEN	PEX6	NDN	SIK1	NR2E3	TFR2	RAD21	LETM1	MT-ND5	TANGO2	SNORD115-1	PPM1B	TULP1	SNRNP200	SLC12A3	KDM6A	GABRD	LAS1L	IQSEC2	GHR	LHX4	SMARCB1	HSD3B2	GRM7	NR0B1	DDB2	SEMA4A	KMT2D	HESX1	PDE6A	ERCC2	SAMD9	ABCD1	RRM2B	FLI1	GATA4	GRB10	NRL	MEG3	CISD2	XRCC4	CDKL5	USH2A	PLXND1	VPS13B	TRMT10A	ERCC8	POLR3GL	BAZ1B	BMP2	CCDC28B	MAP3K1	BEST1	LZTR1	OTX2	NOTCH2	PHF6	IMPDH1	PRPF8	FEZF1	WRN	EIF4H	ZSWIM7	DNM1L	SOX6	HAMP	PUS1	LZTFL1	MT-TF	AIRE	AHI1	SNRPN	MAGEL2	CARS1	KIZ	POLR3K	HYMAI	PHKG2	SCAPER	NSMF	MC2R	CEP290	TOPORS	PCSK1	PDE6B	GLI2	STUB1	PTDSS1	IFT140	CAV1	MAK	SIM1	WDR11	POMGNT1	TSC2	BRD4	NR3C1	CERKL	TSC1	MKRN3	FAM161A	CENPT	GUCA1B	STAT1	BBS10	NR5A1	MRPS22	POLG	PROP1	RBM28	SEMA3A	CTBP1	RRAS2	METTL27	TGFB1	PHF21A	GLA	MT-TH	POLD1	FGFRL1	TONSL	SIX3	STAT5B	SLC25A22	RTL1	HSD11B1	MRAS	GNAO1	CHD4	PRPF3	RBP3	DDX3X	PMM2	PDE6G	TP53	LHCGR	PDGFB	TBC1D20	TRIM32	FAT4	BCL7B	IFT172	ABCA4	FOXH1	CFAP418	NCF1	COL7A1	TRIP4	BBS1	POLR3B	PTCH2	RAB3GAP2	PPP1R15B	WFS1	RP9	BRAF	ARX	OFD1	EIF2B1	SDCCAG8	HACE1	KRAS	BMP15	POLR3H	NECTIN1	BBS2	PROM1	HDAC8	FANCI	MLXIPL	RNU4ATAC	FLRT3	HERC2	MRPS7	ROBO1	CDH23	ALG6	XRCC2	BMPR1B	GBA1	OCA2	CBX2	LPIN2	SHH	GJB2	FGFR1	SCN1B	PLAGL1	FSHB	PTRH2	PCNT	CNGA1	SGPL1	DMPK	TERT	RAB3GAP1	SLC29A3	INSR	MT-CO1	GLI3	PRKCZ	VAMP7	MKKS	PRCD	POR	SMPD1	RPL10	IFNG	HRAS	CYP19A1	FANCF	NHLH2	BUD23	PEX10	ARL2BP	RAF1	IGFALS	MAP2K1	MIA3	SAG	SIX6	ESR1	MMP1	FANCM	POLR1C	UBE4B	STAT3	HGSNAT	NODAL	NRAS	ERCC1	ANK1	DISP1	NF1	TACR3	LHB	SOX10	PEX1	NEUROD2	BBS4	PDE11A	FANCE	FANCG	ALX4	ANAPC1	SALL1	MT-CO3	RPGR	NONO	AHR	MAP3K7	MT-ND1	BBIP1	CYP11A1	FSCN2	SMARCE1	CHRNG	DLL1	FANCB	AXL	UBE2T	DEAF1	DLK1	CASZ1	ZFPM2	CEP19	PRPF31	CTNS	HSPG2	BTK	EYS	NPHP1	MT-TL1	FAM111B	EIF2B3	SMO	SPIDR	WWOX	ERCC4	RRAS	SCN2A	REEP6	RNF216	SMC1A	RIT1	TAC3	DCAF17	PRDM13	YARS2	ARSL	HS6ST1	HLA-DQB1	KMT2C	STAR	NDP	IMPG1	TBX3	CLPP	CLRN1	BAP1	PTCH1	CTNNB1	PRDM16	TXNRD2	PIGF	AGBL5	DMXL2	RAD51C	ASXL3	XPC	PRPH2	MT-ND6	NF2	RPE65	PDPN	IFT27	PTH1R	FANCA	MMP14	INPP5K	ANOS1	SCARB2	MT-TS2	CLIP2	CTDP1	LEP	ERCC6	DHDDS	RFWD3	MT-TQ	GAS1	PROK2	DMRT3	CPLX1	BMP6	SPATA7	SPTBN1	EXT2	FREM1	PWRN1	COQ2	IL17RD	ARHGEF18	TYMP	PWAR1	GMNN	NSD2	SOX11	MRAP	EIF2B2	BRCA1	CLCNKB	GNRH1	LIG3	REV3L	ROM1	FSHR	ATRX	STIL	CA4	MMP23B	ZNF513	RP1L1	TGIF1	RLBP1	HJV	ELN	HLA-DQA1	POLA1	EP300	LSS	BBS12	ATM	KLHL7	CDON	TRAF7	DCHS1	CASK	USP7	SIL1	PIGT	POF1B	BSCL2	G6PC1	OCRL	NSMCE2	PIGP	MERTK	CRX	MYH3	GPR101	EHMT1	FOXA2	ZIC2	SOS1	ANTXR1	DACT1	POLE	FMR1	EIF5A	PHGDH	RP1	FOS	PHKA2	SOX3	FANCD2	FGD1	PRPF6	CBL	TNRC6B	TUB	RAB18	RDH12	SKI	PREPL	IMPG2	GTF2IRD1	PAPSS2	NTN1	KISS1	MAMLD1	ERCC3	CPE	IFT74	MAB21L2	KIAA1549	WDPCP	TRIM8	CNTNAP2	DMRT1	NEK2	DHCR7	SCP2	TDGF1	PPARG	LUZP1	AKT1	STS	DYRK1A	MKS1	RFC2	RAD51	PRLR	TBL2	SMAD4	SLC25A13	GALK1	NFIX	GTF2I	AHSG	CDHR1	KCNAB2	TFE3	HSD17B3	ARL6	PRORP	CYB5A	STX1A	KCNA1	LRAT	DNAJC30	CDKN1C	NPAP1	IFT88	MDM2	RERE	SRCAP	IER3IP1	CNGB1	PIK3CA	BNC1	RAB23	H4C5	SNORD116-1	SLC35A2	BCS1L	XPA	SOS2	ITGB6	ALDOA	SOX2	SRA1	SMC3	SPRED2	SUFU	PDE4D	MMP2	RASA2	ZNF408	TP63	SNAP29	FOXL2	SLX4	KANSL1	MT-CO2	KMT2B	SQSTM1	NIPBL	TAF13	TCF12	ALG1	GTF2IRD2	LIMK1	FANCL	MSL3	USP9X	BBS9	RHO	OPA1	GRIN1	IDH3B	DHX38	TOM1	TMEM270	PGM1	LRP5	PYGL	STK11	GHSR	DNAL4	IDH2	GRIA1	MT-TW	AGPAT2	PNKP	CYP21A2
HP_NASAL_DYSARTHIC_SPEECH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NASAL_DYSARTHIC_SPEECH	UBB	GRHL3	GIPC1	NOTCH2NLC	SELENOI
HP_APLASIA_HYPOPLASIA_OF_THE_NAILS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_NAILS	PIGN	EIF5A	EOGT	PPM1D	ODC1	VPS37D	IFT122	LRP4	ACTL6B	SHOC2	CENPT	NHP2	B3GALT6	GPC4	COL7A1	NSD1	LMNA	HMGA2	COL11A1	NOTCH1	POP1	PIGY	MEG3	SMARCB1	TERT	FBXO28	SMARCE1	SETD2	DPYD	FGFR2	ATP2A2	PIGV	METTL27	CDH1	DLL4	EVC	ELN	COL11A2	DPH1	RSPO1	ARID1B	TCTN3	ATP6V0A2	SMARCAD1	SMARCA4	GJB6	KCNN3	TBX4	NOP10	ZIC3	LIG4	GTF2IRD1	SLC25A22	ALOX12B	MBTPS2	CPT2	ZMPSTE24	DOCK6	PARN	KDM1A	ALG3	SMARCA2	SCN2A	TP63	POC1A	GNAO1	TINF2	STAMBP	TSPAN7	GTF2H5	WNT7A	RTEL1	DSP	RSPO4	TWIST2	RBPJ	PPP1CB	POLR3A	BCL7B	MLXIPL	RBBP8	TRIM8	RPS6KA3	NCF1	HOXA13	NOG	SUZ12	TBX3	CRKL	FGFR1	MPLKIP	LMX1B	RERE	PIGQ	PPP2R5D	SCO2	PIGF	ARX	ARHGAP31	FKBP6	DMXL2	KRT14	EED	RFC2	USB1	CTC1	GTF2E2	IFT43	TBL2	APC2	GRHL2	HRAS	ARID1A	NEPRO	WDR73	FLNB	GTF2I	NPM1	KCNH1	BMPER	PIGO	ATP6V1B2	SIAH1	SMARCC2	CLIP2	ZMYM2	FIG4	BICRA	TFAP2A	MAPK1	SPEN	TRRAP	SMARCD1	DPF2	SIK1	ADAMTSL2	ALOXE3	STX1A	ROR2	FTO	ITGB4	KCNA1	DNAJC30	SOX9	TBC1D24	ERCC3	JUP	NSUN2	INPPL1	SCN1B	ZBTB20	PIGB	PLAGL1	COL17A1	EZH2	BCR	LAMB3	RIPK4	WRAP53	TELO2	GRM7	PLAG1	EVC2	SOX11	TMEM222	SOX4	ALG12	CWC27	PLEC	WNT10A	DLK1	TARS1	DKC1	WASHC5	MSX1	GPC3	CDKL5	CCDC32	GLI1	KIF15	CARS1	BHLHA9	BUD23	KRT5	DNAJC21	PGAP2	SLC25A24	VAC14	SHOX	TYMS	TWIST1	BAZ1B	NOTCH2	AFF4	CCDC22	ARID2	CDKN1C	FRAS1	ERCC2	RNF113A	MMP1	LAMC2	CASK	IHH	EIF4H	SHANK3	PIGW	CKAP2L	GDF5	PIGA	GTF2IRD2	HUWE1	LIMK1	LAMA3	DHX37	PGAP3	MCTP2	ACTG2	SET	RTL1	NPR2	GRIN1	NECTIN4	RLIM	ZNF462	TMEM270	HYMAI	IGF2	WLS	PIGP	PRR12	NEUROD2	NSDHL	OTUD5	DYNC2LI1	OFD1	PTDSS1	APC	SLC35D1	PORCN	HEPHL1	CDIN1	RAF1	PRKACA	PNKP	PIGL	TERC	IKBKG	PRKACB
HP_ABNORMAL_TOENAIL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TOENAIL_MORPHOLOGY	EIF5A	EOGT	ODC1	VPS37D	SHOC2	COL7A1	NSD1	COL11A1	NOTCH1	SMARCB1	SCN9A	TERT	SMARCE1	METTL27	DLL4	EVC	DPH1	TCTN3	CLEC7A	GPC4	AIP	SMARCA4	NHP2	KCNN3	TBX4	ZIC3	LIG4	GTF2IRD1	CPT2	DOCK6	RAB7A	NOP10	PARN	WDR35	KDM1A	SMARCA2	BMP2	TINF2	TAF1	ARID1B	VEGFC	RTEL1	DSP	PPP1CB	BCL7B	MLXIPL	KLHL24	NCF1	HOXA13	SUZ12	TBX3	CRKL	WNK1	FGFR1	TRAF3IP2	PPP2R5D	SCO2	PIGF	DST	FKBP6	KIF11	KRT14	WDR19	RFC2	USB1	CTC1	TBL2	GJC2	HRAS	ARID1A	NECTIN1	EDARADD	GTF2I	NPM1	KCNH1	RUNX2	IL17F	ATP6V1B2	PLCD1	SMARCC2	CLIP2	ZMYM2	RAB3GAP2	WNT10A	MAPK1	PEX6	FLT4	SMARCD1	DPF2	LMNA	STX1A	FTO	DNAJC30	GJB2	TBC1D24	CSTB	JUP	NSUN2	INPPL1	EZH2	BCR	PERP	WNT7A	RIPK4	WRAP53	TELO2	EDAR	SOX11	SOX18	SOX4	EVC2	NOG	KRT74	DKC1	IFT52	RBPJ	ARHGAP31	ITGB4	LRP4	GLI1	ZMPSTE24	RETREG1	BHLHA9	BUD23	KRT5	EED	UMPS	ZSWIM6	SHOX	TYMS	BAZ1B	AFF4	ELN	RAB3GAP1	ARID2	IFT122	FERMT1	EIF4H	SHANK3	CKAP2L	IFT43	GDF5	IL17RA	GTF2IRD2	LIMK1	COL17A1	SET	NECTIN4	TP63	TMEM270	WLS	KIF1A	PEX1	DYNC2LI1	MSX1	APC	GPR101	SLC35D1	LMX1B	IL17RC	PORCN	PRKACA	TERC	IKBKG	PRKACB
HP_DYSTROPHIC_FINGERNAILS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSTROPHIC_FINGERNAILS	PKP1	ERCC3	ERCC2	TARS1	NECTIN1	RNF113A	KRT74	KIF1A	COL7A1	ZBTB20	STAT3	RUNX2	WNK1	ITGB4	MAP2K1	HLA-B	HPGD	MPLKIP	ZMPSTE24	MBTPS2	RETREG1	CARS1	WNT10A	SCN9A	COL17A1	KRAS	GTF2H5	BRAF	MAP2K2	LMNA	GTF2E2
HP_SUBUNGUAL_HYPERKERATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBUNGUAL_HYPERKERATOSIS	MBTPS2	CARD14	KRT17	TRPV3	JUP	KRT14
HP_HYPOPLASTIC_FIFTH_FINGERNAIL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_FIFTH_FINGERNAIL	ARID2	ARID1A	ARID1B	SMARCC2	SMARCB1	PIGF	SMARCA4	DPF2	SMARCD1	SOX11	SOX4	SMARCE1	RBPJ
HP_ONYCHOGRYPOSIS_OF_TOENAILS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ONYCHOGRYPOSIS_OF_TOENAILS	PLEC	KRT6A	KRT6B	KRT17	KRT16	KLHL24	COL7A1
HP_RIDGED_FINGERNAIL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIDGED_FINGERNAIL	SLC39A4	EFNB1	DVL3	DVL1	FZD2	MSX1	WNT5A	TINF2	IKBKG
HP_NAIL_DYSTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NAIL_DYSTROPHY	FOXP3	COL7A1	DCLRE1B	CD28	ITGA3	KRT83	GJB2	CTLA4	NHP2	ZBTB20	TGM1	NOTCH1	DSG1	SCN9A	TERT	KRAS	SMARCE1	CSTA	ATP2A2	HOXC13	SREBF1	TNFRSF1B	EVC	COL17A1	ACD	PI4KA	RSPO1	ZMPSTE24	SMARCAD1	GJB6	NOP10	ITGA6	IL36RN	RAB7A	PARN	MBTPS2	MMP1	TP63	RTEL1	TINF2	KRT5	TYMS	GTF2H5	MAP2K2	TRPV3	FLNA	AP1S3	KRT81	KRT1	MTX2	KLHL24	PLEC	STING1	FOXN1	WNK1	DSP	MPLKIP	LAMA3	DST	KRT14	PQBP1	USB1	CTC1	DKC1	RBCK1	GTF2E2	CTSC	GRHL2	UBE2A	PKP1	NECTIN1	ABCA1	ATL1	NTRK1	NPM1	RUNX2	HLA-B	RECQL4	WNT10A	GSN	TERC	LMNA	ITGB4	KRT6B	KRT86	ERCC3	IKBKG	TTC7A	MAF	KRT17	JUP	LAMB3	PERP	HPGD	NLRP1	WRAP53	KRT6A	BRAF	MARS1	TARS1	KRT74	ANAPC1	CD151	KRT85	FOCAD	ATR	AAGAB	KIF15	RETREG1	CARS1	KRT16	DNAJC21	BANF1	GJA1	CDSN	SASH1	ERCC2	RNF113A	KDF1	LAMC2	STAT3	EVC2	COL14A1	AIRE	NFKB2	KIF1A	PEX6	MVK	MAP2K1	ATP6V1B2	LORICRIN	PORCN	POMP	RPA1
HP_VERTEBRAL_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERTEBRAL_HYPOPLASIA	POLR3A	CSPP1	SOX9	FLNB	VANGL1	GLB1	INPPL1	FUZ	COL2A1	DDRGK1	CLCN3	SOX2	EBP	NOTCH2	SLC26A2	ARSL	SIX6	NSDHL	LBR	FN1	GNS	TNFRSF11A	SF3B2	COL11A1	PRKAR1A	SLC35D1	SUMF1	POGZ	RPS19	PDE4D	RINT1	TRPV4	KIAA0586	SLC29A3	TCIRG1	ACVR1
HP_INTERVERTEBRAL_DISC_DEGENERATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERVERTEBRAL_DISC_DEGENERATION	LMNA	SMAD3	HGD	TBX1	SMAD2	MATN3
HP_VERTEBRAL_WEDGING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERTEBRAL_WEDGING	COL2A1	CCN6	FKBP10	PTCH1	PTCH2	IFITM5	ARSB	FANCC	SEC23A	BGN	TRPV4	CANT1	IFT43	SUFU	FN1	NPR2	MBTPS2
HP_VERTEBRAL_CLEFTING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERTEBRAL_CLEFTING	ALPL	ALG12	COG1	SLC10A7	FLNB	IARS2	COL2A1	SOX2	LONP1	CSGALNACT1	HAAO	CHRNG	ARSL	SIX6	SOX5	FOXF1	COL11A2	TRIP11	PEX7	HSPA9	KDM6A	OTUD5	KMT2D	MESP2	CHST3	MBTPS2	IPO8	STAG2	ALDH1A2	TBX6	NKX3-2	RAD21	TRPV4	LAMA5	RIPPLY2	SLC26A2	WBP11	SC5D	HSPG2
HP_ANTERIOR_BEAKING_OF_LUMBAR_VERTEBRAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_BEAKING_OF_LUMBAR_VERTEBRAE	FUCA1	GALNS	GUSB	GLB1	AGA
HP_HYPOPLASTIC_CERVICAL_VERTEBRAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_CERVICAL_VERTEBRAE	TRPV4	SOX9	FLNB	POGZ	SLC26A2	EBP	ARSL
HP_VERTEBRAL_ARCH_ANOMALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERTEBRAL_ARCH_ANOMALY	EXOC6B	RMRP	FGFR3	DDRGK1	LTBP3	PDE4D	HNRNPR	GNPTAB	JAG1	KIF22	NPR2	SMAD4	PRKAR1A	RNU4ATAC	TONSL	SLC35D1	CHST3	ANKRD11
HP_C1_C2_VERTEBRAL_ABNORMALITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_C1_C2_VERTEBRAL_ABNORMALITY	IDUA	COL2A1	DDR2	SKI	MMP2	FN1	MADD	ARSL
HP_NEUROPATHIC_SPINAL_ARTHROPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEUROPATHIC_SPINAL_ARTHROPATHY	GNE	POMT1	FKRP	SH3TC2	SLC25A1	EBP	LARGE1	CHAT	VAMP1	GMPPB	POMT2	AGRN	EXT2	SLC18A3	GDAP1	SYT2	SLC5A7	SNAP25	MGME1	SNX14	COL13A1	MYO9A	EXT1
HP_CERVICAL_SPINAL_CANAL_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVICAL_SPINAL_CANAL_STENOSIS	CSPP1	KIAA0586	KANSL1	FGFR3	IARS2	EXTL3	ARSL	PHF6
HP_NARROW_VERTEBRAL_INTERPEDICULAR_DISTANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_VERTEBRAL_INTERPEDICULAR_DISTANCE	EXOC6B	RMRP	FGFR3	DDRGK1	LTBP3	PDE4D	HNRNPR	GNPTAB	KIF22	NPR2	PRKAR1A	TONSL	SLC35D1	CHST3
HP_LUMBAR_KYPHOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LUMBAR_KYPHOSIS	RPS6KA3	GALNS	COL2A1	FGFR3	POLR3GL	VPS33A	ATG7
HP_HYPOPLASTIC_VERTEBRAL_BODIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_VERTEBRAL_BODIES	POLR3A	CSPP1	VANGL1	GLB1	INPPL1	FUZ	SLC35D1	SUMF1	PDE4D	RINT1	KIAA0586	SLC29A3	PRKAR1A	TCIRG1	ACVR1	LBR	GNS	TNFRSF11A
HP_ASYMMETRY_OF_SPINAL_FACET_JOINTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASYMMETRY_OF_SPINAL_FACET_JOINTS	FUZ	VANGL1	TBXT	VANGL2	CCL2
HP_INFERIOR_LENS_SUBLUXATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFERIOR_LENS_SUBLUXATION	BAP1	CYSLTR2	GNAQ	GNA11	SF3B1
HP_MULTIPLE_ROWS_OF_EYELASHES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_ROWS_OF_EYELASHES	TWIST2	CTNND1	PRR12	FOXC2	CDH1	PUS1	HSPG2	YARS2
HP_CONGENITAL_CRANIOFACIAL_DYSOSTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_CRANIOFACIAL_DYSOSTOSIS	ALX4	SLC25A24	MSX2	PDE4D	PRKAR1A
HP_HIGH_HYPERMETROPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_HYPERMETROPIA	LCA5	DNAJC30	MFRP	BCL7B	IFT122	MLXIPL	ALDH1A3	VPS37D	MT-TS2	GJA1	PCDH15	CDH23	NCF1	RERE	RPGRIP1	USH1C	GABRD	CSTA	RAI1	UBE4B	CASZ1	CNNM4	EIF4H	IFT43	PRDM16	GTF2IRD2	CRB1	LUZP1	LIMK1	SOX2	HARS1	FKBP6	PRKCZ	SPEN	CEP78	MYO7A	METTL27	NMNAT1	WDR19	RFC2	FGF3	RAX	SKI	TBL2	SMAD4	TMEM270	HSPG2	ARSG	PDPN	IFT52	CLRN1	GTF2I	OGT	BEST1	ESPN	GTF2IRD1	OTX2	TAOK1	KCNAB2	PRSS56	MED25	SIX6	WDR35	BUD23	CLIP2	USH1G	ZMYM2	TUBB4B	MMP23B	TMEM98	CIB2	SLC6A6	STX1A	BAZ1B	RMRP	ELN	TGM5
HP_MEDIAN_CLEFT_LIP_AND_PALATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEDIAN_CLEFT_LIP_AND_PALATE	TGIF1	POU1F1	LHX4	HESX1	DVL1	GLI2	FOXA2	WNT5A	OTX2	PROP1	DVL3	FZD2	SIX3	PTCH1	FAM20C	SLC2A10
HP_BILATERAL_CONDUCTIVE_HEARING_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_CONDUCTIVE_HEARING_IMPAIRMENT	VARS1	NFIX	EDN1	TELO2	ANKRD11	TNFRSF11A	NOG
HP_APLASIA_HYPOPLASIA_OF_THE_SACRUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_SACRUM	MNX1	FANCB	VANGL1	FUZ	WNT7A	HAAO	ZIC3	TBXT	TRIP11	CCL2	POC1A	RPS19	VANGL2	FANCL	FUCA1	PTH1R	NODAL	TP63	ROR2
HP_APLASIA_HYPOPLASIA_INVOLVING_THE_VERTEBRAL_COLUMN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_VERTEBRAL_COLUMN	IDUA	SOX9	FLNB	ARSB	IARS2	INPPL1	CLCN3	WNT7A	EBP	HAAO	ARSL	FUZ	LBR	TBXT	FN1	COL11A1	COL2A1	FGD1	RPS19	EXTL3	GLB1	TRPV4	FUCA1	GNPTAB	PRKAR1A	SLC26A2	NOG	MNX1	SOX2	RAB33B	VANGL1	ZIC3	EIF2AK3	GNS	TNFRSF11A	SF3B2	CCL2	NFIX	RMRP	POC1A	SUMF1	FANCL	PDE4D	RINT1	DYM	SLC29A3	TCIRG1	TP63	LFNG	COMP	POLR3A	FANCB	DDRGK1	BGN	NOTCH2	SIX6	AIFM1	LONP1	KIAA0586	COG4	CSPP1	DDR2	GUSB	GALNS	NSDHL	TRAPPC2	TRIP11	SLC35D1	POGZ	VANGL2	ACVR1	PTH1R	NODAL	ROR2
HP_ABNORMAL_COCCYX_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_COCCYX_MORPHOLOGY	MASP1	SH3PXD2B	COLEC10	TAF1	DCHS1	COLEC11	FAT4	TRPV4	TBX15
HP_POSTERIOR_HELIX_PIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_HELIX_PIT	CDKN1C	KCNQ1	GPC4	IGF2	GPC3	KCNQ1OT1	EP300
HP_CONGENITAL_SENSORINEURAL_HEARING_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_SENSORINEURAL_HEARING_IMPAIRMENT	GNRH1	HS6ST1	MITF	KCNE1	GJB2	GJB6	PDZD7	KYNU	SLC26A4	LRTOMT	PROK2	CHD7	GREB1L	CLPP	DUSP6	WFS1	ADGRV1	MAP3K7	PAX3	KARS1	KCNJ10	KITLG	USH1C	IGF1	FGF8	WDR11	FGFR1	ROR1	KISS1R	SPRY4	POU3F4	TACR3	RAC1	FGF17	KCNQ1	TAC3	PRPH2	RHO	NSMF	USH2A	COX16	SNAI2	RDH5	ESRP1	GNRHR	KISS1	MRPS7	PROKR2	FOXI1	PCDH15	RLBP1	PRPS1
HP_ABNORMALLY_FOLDED_HELIX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALLY_FOLDED_HELIX	CREBBP	PYCR2	MAPRE2	ASXL2	BCL11A	SEMA3E	TBX2	SEC24C	RPS23	BHLHA9	PLCB4	SLC6A8	PIGB	SLC16A2	FREM1	PIGN	ACTB	FANCB	FBN2	FGFR2	DACT1	AGO2	BCOR	CHD7	HIRA	TBX1	PIGA	SMC1A	NAA10	EFTUD2	ZMYND11	PPP2R3C	AMMECR1	KIAA0586	SCNM1	PIGL	SALL1	HSPG2	MED12	DDX6	ZNF462	TCF3	VPS51	CSPP1	HOXA2	TGFB3	TASP1	COL2A1	TRIO	GP1BB	LONP1	ARVCF	CLIC2	EBF3	JMJD1C	SCARF2	FN1	FOXP2	CPT2	GNB1	SLC26A2	RREB1	GNAI3	RECQL4	NARS1	NFIX	TMEM94	KANSL1	CDK13	BICRA	TFAP2A	AMER1	COMT	UFD1	TWIST1	CHUK	PPP1CB
HP_COCHLEAR_MALFORMATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COCHLEAR_MALFORMATION	SIX1	EYA1	ORC1	KCNJ10	SLC26A4	SRCAP	FOXI1	COL4A6	HAAO
HP_EXTERNAL_EAR_MALFORMATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXTERNAL_EAR_MALFORMATION	BCOR	PEX6	IGHM	BRCA2	SEMA3E	FANCB	GATA4	GJA1	GRIP1	PEX19	PEX14	EYA1	CHN1	UBE2T	FANCM	BLNK	SIX5	TP63	NAA10	SLX4	PEX16	TWIST1	PEX11B	PIK3R1	GNAI3	EDN1	CHD7	TCF3	ERCC4	FANCL	CCBE1	PURA	ADAMTS3	CTH	FRAS1	FGFR2	MAPRE2	PEX1	SALL4	FAT4	ANK1	SIX1	PEX12	RAD51C	PLCB4	TBCE	FANCD2	PEX13	BRCA1	MAD2L2	FANCA	FANCI	PEX3	KIF1A	FGD1	TUBB	PEX5	PEX10	FANCE	IGLL1	FANCF	FANCG	CHST14	PEX26	CD79B	BRIP1	SALL1	FGFR3	ESCO2	RAD51	RFWD3	MAFB	XRCC2	ZNHIT3	FREM2	PEX2	LRRC8A	PALB2	DACT1	DSE	FANCC	CD79A
HP_UNDERFOLDED_HELIX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNDERFOLDED_HELIX	SLC16A2	RECQL4	SCNM1	TMEM94	COL2A1	FN1	SLC6A8
HP_HYPOPLASIA_OF_THE_COCHLEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_COCHLEA	SIX1	EYA1	KCNJ10	DDX11	SIX5	SLC26A4	FOXI1
HP_HYPOPLASTIC_HELICES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_HELICES	FOXP1	AGO2	GNAI3	HOXA2	PAH	FRAS1	AASS	PBX1	TFAP2A	PLCB4
HP_PROMINENT_ANTITRAGUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_ANTITRAGUS	CHST3	RAB3GAP2	B3GAT3	KAT6A	PIGK
HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_MIDDLE_EAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_MIDDLE_EAR	SIX1	DDR2	FRAS1	ABCC6	NOTCH3	COL1A1	NSD1	GJB2	IL11RA	NOG	FOCAD	POLR1D	EYA1	GJB6	SIX5	IDS	PSMD12	SYK	COL1A2	GDF6	NFIX	MAP3K7	RAI1	POU3F4	RAD21	NKX2-1	TFAP2A	SETD2	EFTUD2	SETBP1	ENPP1	AIRE	BPTF	APC2
HP_INFANTILE_SENSORINEURAL_HEARING_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFANTILE_SENSORINEURAL_HEARING_IMPAIRMENT	NDE1	PRG4	SETBP1	SARDH	TK2
HP_ADULT_ONSET_SENSORINEURAL_HEARING_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADULT_ONSET_SENSORINEURAL_HEARING_IMPAIRMENT	ERCC6	DKK1	ERCC8	GJB6	DGUOK
HP_BILATERAL_SENSORINEURAL_HEARING_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_SENSORINEURAL_HEARING_IMPAIRMENT	STRC	MYH14	MT-TQ	LHFPL5	KCNQ1	ERCC3	GTF2E2	ERCC2	PSAP	ITGB3	RNF113A	YARS1	FUS	SPTBN1	SIX6	MT-CYB	MT-ND6	RBMX	TBK1	GRXCR2	MAP1B	MT-TV	ARSA	MT-CO2	MAP3K20	ITGA2	BSND	MPLKIP	RTTN	LOXHD1	DNAJC3	TBC1D24	MT-ND5	ACTG1	ATG7	IGF1	CATSPER2	MT-TC	MT-ND1	C9orf72	TARDBP	NARS2	KCNE1	MT-TK	MT-TL1	CLCNKB	CLCNKA	SQSTM1	SLC12A2	DSPP	POLG	TARS1	MT-CO3	ITGA2B	RRM2B	SOX2	TUBB3	COA8	MARS2	MT-TS2	MT-TF	LETM1	MT-TW	CHSY1	COL4A6	IARS2	ATP6V1B2	ADAMTSL1	CARS1	MPEG1	ATP6V0A4	CHCHD10	ACOX1	POGZ	TWNK	POU3F4	MYO7A	DCAF17	GTF2H5	GP1BA	CD109	NAXD	VCP	DNAJC19	MT-CO1	GP1BB	MRAS
HP_ABNORMALITY_OF_THE_STAPES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_STAPES	COL1A2	GDF6	ABCC6	COL1A1	POU3F4	RAD21	GJB2	IL11RA	NOG	SETBP1	IDS	GJB6	PSMD12	ENPP1	BPTF
HP_APLASIA_HYPOPLASIA_OF_THE_FALLOPIAN_TUBE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_FALLOPIAN_TUBE	DCAF17	DHH	WNT4	AR	WNT3
HP_URETHRAL_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETHRAL_STENOSIS	DNAJC30	FERMT1	BCL7B	MLXIPL	MKKS	VPS37D	POLA1	TBX1	NCF1	COL7A1	MMP1	LAMC2	LAMB3	FLNA	EIF4H	PKP1	CDC45	RIN2	GTF2IRD2	WRAP53	LIMK1	MAP3K7	TERT	ITGB4	PLEC	FKBP6	BNC2	METTL27	RFC2	USB1	CTC1	ELN	TBL2	TMEM270	DKC1	GTF2I	NPM1	NHP2	LAMA3	GTF2IRD1	ITGA6	NOP10	PARN	BUD23	CLIP2	TINF2	ZMYM2	FLT4	RTEL1	TYMS	STX1A	BAZ1B	TP63	TERC
HP_ABNORMAL_SPERMATOGENESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SPERMATOGENESIS	M1AP	NANOS1	NR3C1	FANCB	BLM	PNLDC1	CLDN2	SHOC1	CFAP47	UBE2T	KLHL10	KIT	TAF4B	CFAP91	DAZ1	CHD7	NR5A1	ZMYND15	KISS1R	SYCP3	SUN5	ZFPM2	IFT74	MSH4	GCNA	DNAH17	BRCC3	USP9Y	TDRD9	STEAP3	SYCE1	HSFY1	SRY	CNBP	BPY2	WWOX	HFE	RBMY1A1	POC1A	KISS1	ADGRG2	DCAF17	ZSWIM7	FANCM	PALB2	TEX11	TEX14	PMFBP1	FBXO43	HS6ST1	BRCA2	TEX15	SCP2	DUSP6	WT1	SPINK2	TXNRD2	MSH5	CATSPER2	CDY1	RAD51C	WDR11	NR0B1	FANCD2	TERB1	TACR3	TERB2	LHCGR	RNF212	ANOS1	MAD2L2	XRCC2	TAC3	MCM8	PDHA2	FANCA	FANCI	MOV10L1	CEP19	CFTR	GNRHR	BRIP1	NNT	DNHD1	DDX3Y	SOX9	AR	STAG3	RFWD3	CDY2A	GBA1	STRC	SYCP2	DMRT3	ALMS1	DZIP1	FSHB	DAZ3	DAZ2	SLC29A3	FGFR3	MRAP	MEIOB	VAMP7	SPRY4	DHX37	BRCA1	RPS4Y2	POR	GATA4	BCL10	NSMF	C14orf39	FANCF	SOHLH1	VCY	STAR	KDM5D	DNAH10	HSD3B2	HJV	PRY2	MAP3K1	BMP2	GNRH1	CCDC34	CATIP	ATM	PROK2	SLX4	CFAP70	TSPY1	ERCC4	FANCL	STK11	SEPTIN12	ANK1	FGF8	DNAH9	RPL10L	FGFR1	FKBP6	OCRL	CATSPER1	FGF17	LHB	MC2R	PDE11A	CFAP65	SEMA3A	FANCE	FANCG	PRKAR1A	ARMC2	PROKR2	PRY	RAD51	ANTXR1	DAZ4	FANCC
HP_CALCIUM_OXALATE_NEPHROLITHIASIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALCIUM_OXALATE_NEPHROLITHIASIS	OPLAH	SLC6A20	AGXT	SLC26A1	ADCY10	SLC6A19	HOGA1	GRHPR	SLC36A2	TBC1D7
HP_RENAL_HYPOPLASIA_APLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_HYPOPLASIA_APLASIA	PROKR2	BCOR	MKKS	FGF17	FANCB	VPS37D	LRP4	NSD2	STIL	HAAO	HS2ST1	SASS6	CPLANE1	UBE2T	DEAF1	KYNU	ZNF699	PHC1	KIAA0753	MEOX1	TMEM67	IDH1	BMP4	DYNC2I1	FRAS1	SETD2	RPS24	PRKAR1A	WDR35	SIX1	DHCR7	FBXW11	RPS27	TCTN3	PBX1	GLI3	GP1BB	ADA2	DISP1	KIF14	NDUFB8	ZIC3	RPS28	CCDC141	RREB1	FANCC	FGF20	FREM2	PALB2	HNF1B	TRAPPC14	ANKLE2	GFRA1	RPS29	DYNC2H1	TOPORS	MLXIPL	BRCA2	ASXL2	NADSYN1	RPL35A	DUSP6	WNT4	TP63	HSPA9	GDF6	FGFR3	TBX3	RPL26	ERCC8	FGF10	TBX1	RMND1	KNSTRN	MKS1	FKBP6	GREB1L	FLII	RAD51C	NCAPG2	APC2	KIF7	FANCF	MAD2L2	CENPJ	CDC42	ATN1	NDNF	CHD7	FANCA	ANOS1	SPRY4	RAI1	SLC30A9	SCO2	CLIP2	BRIP1	NCAPD3	DHCR24	TRRAP	CEP120	RFWD3	CIT	EYA1	PDE6D	TAF13	TFAP2A	FREM1	ALKBH8	KDM6A	RET	SKIC3	RTTN	GNB2	KCTD1	RIPK4	NAA10	FGFR1	SALL1	FBLN5	ZIC2	BRCA1	NSD1	CDK6	CENPF	SURF1	FANCI	PAX2	SIX3	NDUFAF3	RPS19	B3GLCT	WNT9B	ATRX	CTU2	MCPH1	CDK5RAP2	GATA3	COMT	BAZ1B	RPS15A	ELN	SF3B4	RARB	FUZ	LHX1	SEC24C	ASPM	DCHS1	FEZF1	SON	FOXH1	EIF4H	MFSD2A	IL17RD	ERCC4	SALL4	TBX18	DYRK1A	CEP135	MUC1	ALDH18A1	NFIA	ZPR1	INSL3	PUF60	THOC6	CEP63	RPS7	CCNQ	DACT1	WDR11	STRA6	PRKACB	SH2B1	TGIF1	AFF3	NF1	FGF8	TNXB	SUFU	KCNJ5	RPS26	FANCD2	TRAPPC10	MCM7	GPKOW	ARL6	XRCC4	PYCR2	SEMA3A	ERCC6	DCC	GATA1	METTL27	ATPAF2	WNT3	ARID1B	NDUFS2	FANCE	H4C3	GTF2IRD1	MYOD1	H4C9	SDCCAG8	MBTPS2	NODAL	PAX1	IFT80	RPL15	FANCL	JAG1	RPL11	DLL4	FAT4	VANGL1	BCL7B	RPL27	OFD1	NCF1	KNL1	IQSEC2	PTPN11	PIK3CD	STS	TXNL4A	CD96	RFC2	REN	NOTCH2	RPS10	TBL2	GEMIN4	TMCO1	PORCN	PPFIBP1	RAD21	COPB2	SHH	GTF2I	DYNC2I2	TACR3	FLRT3	PTCH1	ZMYM2	PHGDH	GDF3	WDR62	CEP55	RPL18	PQBP1	DLL1	XRCC2	RPL31	STX1A	WDR19	RPL5	DNAJC30	PROK2	ARX	MDM2	DCDC2	SIX5	NIPBL	KMT2D	SRCAP	PRMT7	HIRA	H4C5	HMGA2	PPP2R1A	EVC2	LMBRD1	GLI2	SKIC2	HESX1	POR	TSR2	HS6ST1	ARVCF	FGFR2	PRIM1	SF3B2	COG6	GLI1	BUD23	ROBO2	ITGA8	PIEZO2	RPS20	COX14	MCM5	GRIP1	KCNJ2	FANCM	TDGF1	SLX4	INTU	PLXNA1	TBC1D24	LEMD3	GTF2IRD2	LIMK1	ANKRD17	RPS17	CEP152	PPP2R3C	TMEM216	PIK3CA	CDON	PPP1R15B	TMEM270	WLS	METTL5	SOX10	RPL35	JMJD1C	NSDHL	GAS1	RNU4ATAC	DYNC2LI1	FANCG	PIK3C2A	FAM149B1	APC	HOXD13	RAD51	HRAS	UFD1	EVC	WBP11	PRKACA
HP_RENAL_TUBULAR_EPITHELIAL_NECROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_TUBULAR_EPITHELIAL_NECROSIS	LAMA3	SLC22A12	CPT2	LAMC2	LAMB3
HP_APLASIA_HYPOPLASIA_OF_THE_UTERUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_UTERUS	CYP11A1	LETM1	ERAL1	CPLX1	DHH	WNT7A	CHD7	KISS1R	AR	BNC1	PSMC3IP	NUP107	MRPS22	CTBP1	NR5A1	NSD2	SOX11	PPP2R1A	SPRY4	RBM8A	WNT4	ARID1B	MYRF	GLI3	FGFRL1	CYP17A1	ADH5	SPIDR	BMP15	NSMF	FSHR	KISS1	B3GLCT	FANCL	DCAF17	GATA3	DHX37	LARS2	POR	NIN	GNRH1	HS6ST1	ZSWIM7	FOXL2	FIGLA	CYP11B1	NDUFB11	TP63	TXNDC15	ESR1	C14orf39	PROK2	CLPP	DUSP6	COX7B	KIF14	PPP2R3C	FGF8	WDR11	FGFR1	SOHLH1	POLR3H	TACR3	FGF17	TAC3	MSH5	IRF6	TOE1	GNRHR	MINPP1	HNF1B	PROKR2	STRA6	CYB5A	BMPR1B	HCCS
HP_BILATERAL_CRYPTORCHIDISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_CRYPTORCHIDISM	CREBBP	TOPORS	EP300	ODC1	RPL10	MCM5	ZBTB20	OFD1	MASP1	CPLANE1	LSS	RIPK4	POLE	AR	KIAA0753	AMHR2	ALX4	FGD1	FARS2	COLEC10	COLEC11	IFT172	ERCC6	TMEM216	C2CD3	MEGF8	TCTN3	IGBP1	AMH	KIF7	ATP6V1E1	NONO	CDH11	ATP6V1A	ASH1L	KAT6A	RYR1	FAM149B1	NFIX	WDR37	FDFT1	CYP17A1	KLHL15	DNAJC19	TWIST1	SMARCAL1	VPS50	GTF2H5	SRY	PAICS	PDE6D
HP_RENAL_HAMARTOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_HAMARTOMA	TSC2	IFNG	TSC1	CDC73	DIS3L2	CDKN1B	MVK
HP_TESTICULAR_DYSGENESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TESTICULAR_DYSGENESIS	MAP3K1	DHX37	DHH	GATA4	NR0B1	DMRT1	SRY	TSPYL1	SOX9	ARX	CBX2	WT1	NR5A1
HP_URETHROVAGINAL_FISTULA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETHROVAGINAL_FISTULA	DYNC2I2	IFT80	DYNC2H1	WDR35	DYNC2I1	UBR1
HP_URETHRAL_DIVERTICULUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETHRAL_DIVERTICULUM	FBLN5	PLD1	AR	MAMLD1	LTBP1	EFEMP2
HP_HYPOPLASIA_OF_THE_VAGINA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_VAGINA	DMRT3	WNT4	WT1	ZFPM2	B3GLCT	GATA4	NR0B1	SOX9	CYP17A1	CYP11B1	SRY	CYB5A	VAMP7	IRF6	NR5A1	WWOX	MAP3K1	DHX37
HP_FEMALE_EXTERNAL_GENITALIA_IN_INDIVIDUAL_WITH_46_XY_KARYOTYPE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEMALE_EXTERNAL_GENITALIA_IN_INDIVIDUAL_WITH_46_XY_KARYOTYPE	CYP11A1	DMRT3	WT1	ZFPM2	GATA4	NR0B1	SOX9	CYP17A1	SRY	HSD3B2	CYB5A	AR	VAMP7	NR5A1	HSD17B3	WWOX	MAP3K1	DHX37
HP_DECREASED_TESTICULAR_SIZE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_TESTICULAR_SIZE	NANOS1	CYP11A1	CCDC141	FGF17	PNLDC1	RPL10	CUL4B	CUL7	SNRPN	AXL	KLHL10	FGF8	TAF4B	CHD7	FBN1	NR5A1	ZMYND15	KISS1R	RAB18	SOX3	MAP3K7	KCNJ6	ZFPM2	B4GAT1	GNRHR	CHRM3	SEMA3A	DCC	PHGDH	BRCC3	MAGEL2	USP9Y	RNF113A	TDRD9	RSPO1	FAM111A	THOC2	TCTN3	GLI3	CYP17A1	SRY	PHF8	LHCGR	WWOX	SLC39A4	ARX	RBMY1A1	KISS1	PMM2	HS6ST1	TYMS	DCAF17	HSPG2	FANCM	ERCC3	TEX14	DHX37	FEZF1	TEX15	CYP11B1	DUSP6	NR0B1	LEPR	LHX4	GLI2	WT1	MBTPS2	WDR11	XPC	KDM5C	TACR3	TEX11	ANOS1	SATB2	XRCC2	HDAC8	TAC3	MCM8	OGT	NDNF	PQBP1	GNRH1	DKC1	SPRY4	FLRT3	SOX9	DDX3Y	CTDP1	DMXL2	LEP	NDN	CYB5A	OCA2	SEMA3E	GBA2	PROK2	DMRT3	ALMS1	FSHB	DAZ3	DAZ2	DNAJC19	SLC29A3	DDB2	SYCP3	PROP1	VAMP7	XPA	ERCC2	SAMD9	CDKN1C	TOGARAM1	HESX1	ARL6	TBC1D20	GATA4	SRA1	NSMF	SOHLH1	DAZ1	ATRX	HSD3B2	MAP3K1	CCDC28B	CCDC34	ERCC4	OTX2	SYCE1	PHF6	C14orf39	FGFR1	NAA10	TSPY1	IL17RD	RPL10L	MEIOB	RLIM	SOX10	ZPR1	PROKR2	POLA1	POU1F1	BBS1	CFTR	FOXA2	SIM1	ERCC5	DAZ4	FMR1
HP_HYPOPLASIA_OF_PENIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_PENIS	PROKR2	BBIP1	FSCN2	CHRNG	PNPLA6	FGF17	KAT6B	SEMA3E	VPS37D	RGR	CUL4B	IDH3A	AXL	KIAA0753	PRPF4	OTX2	KISS1R	CASZ1	CEP41	RNASEH2C	ZFPM2	ORC1	DYNC2I1	B4GAT1	FRAS1	CEP19	PRPF31	EHMT1	GATA4	LMOD3	CAMK2A	FKRP	FZD2	CDT1	WDR35	SLC7A14	DPYSL5	MEGF8	PCARE	MAGEL2	RNF113A	DHCR7	HSPG2	TCF4	EYS	GLI3	NPHP1	CYP17A1	DISP1	BBS5	DYNC2H1	SRY	TBL1XR1	TAPT1	ZEB2	CCDC141	GPR161	WWOX	SRD5A2	POMK	SCN2A	BBS2	REEP6	NR5A1	SMC1A	HNRNPR	DAG1	POMT2	UBA1	HS6ST1	DCAF17	LAMA5	GLI2	ORC4	PRDM13	FREM2	WT1	RNASEH2B	DHX37	TWIST2	ALG12	CDC6	POMT1	MLXIPL	FEZF1	ARL3	DVL1	SMCHD1	LARGE1	DUSP6	IMPG1	B9D2	PSMD12	TBX3	RP2	DHDDS	CLRN1	ISL1	PRDM16	PIGQ	C2CD3	FKBP6	AGBL5	ARNT2	DMXL2	CRB1	WDR11	FGFR1	TBCE	RNU7-1	SOX3	KDM5C	TP63	PRPH2	FANCF	RPE65	PDPN	NDNF	CHD7	EBF3	COL4A1	ANOS1	SPRY4	ATP6V1A	AR	EIF2S3	MTM1	TTC8	ARX	POMGNT2	CLIP2	GNRHR	MINPP1	FIG4	PRKDC	CDH2	XRCC4	LEP	TRRAP	KLHL15	SIK1	ROR2	NR2E3	DHODH	RXYLT1	SC5D	HCCS	RAD21	PROK2	DMRT3	SPATA7	SNORD115-1	SPTBN1	STT3B	TULP1	EXT2	ALKBH8	KIF7	EZH2	SNRNP200	FANCB	KDM6A	GABRD	STXBP1	PWRN1	MED12	RTTN	GNB2	CDC45	LHX4	HSD3B2	ARHGEF18	HID1	UBR7	GRM7	POLR1D	NR0B1	ERCC8	TCOF1	PWAR1	SEMA4A	INTU	COLEC10	KMT2D	HESX1	PDE6A	ZIC2	CYB5A	SAMD9	KLHL41	THOC2	TBC1D20	MADD	GNRH1	NRL	WNT5A	RSPO2	KIAA0586	GMPPB	NSMF	GPC3	CDKL5	USH2A	SIX3	ROM1	TOE1	LSM11	ATRX	CA4	MMP23B	CTU2	ZNF513	RP1L1	RLBP1	MID1	VAC14	POR	BAZ1B	ELN	CCDC28B	FKTN	PHF6	CCDC22	DVL3	BEST1	GPC4	PBX1	ATAD3A	IFT27	IMPDH1	KLHL7	ACTB	CDON	PRPF8	CASK	USP7	FOXH1	EIF4H	COX7B	IL17RD	HUWE1	MCTP2	LZTFL1	DYRK1A	FGF8	NXN	KLF1	SLC29A3	INPP5E	AHI1	RLIM	KIZ	MBD5	IGF2	SCAPER	PIGP	MERTK	BBS4	ZPR1	CRX	CEP290	SEMA3A	TOPORS	MYH3	PDE6B	THOC6	CILK1	IFT140	MAK	SIM1	DACT1	POMGNT1	BRD4	LIG4	ADAT3	CERKL	RP1	LMNB2	TGIF1	WNT7A	GLYCTK	FAM161A	CENPT	LSS	GUCA1B	COG5	MKRN3	NSD1	HMGA2	SUFU	POLR1C	RAB18	FANCD2	PRPF6	BBS10	BBS12	CRPPA	DCC	SPEN	ECE1	TUB	KLHL40	METTL27	RDH12	SKI	HDAC8	IMPG2	ORC6	PHF21A	MYRF	PSMC1	KATNIP	GTF2IRD1	SLC25A22	H4C9	NODAL	IFT80	KISS1	GNAO1	CHD4	MAMLD1	PRPF3	RBP3	FANCL	PDE6G	GRIA3	CPE	KIAA1549	BCL7B	WDPCP	IFT172	TRIM8	ABCA4	ERCC2	NDUFB11	CFAP418	NCF1	NEK2	SUZ12	BBS1	RAB3GAP2	RP9	LUZP1	PTPN11	UBR1	SIN3A	NEB	OFD1	FAM111A	DCX	SDCCAG8	ARCN1	MKS1	RFC2	DDX6	TBL2	UBE2A	PRRX1	OPHN1	TACR3	CDH11	BLTP1	PROM1	SHH	TAC3	GTF2I	DYNC2I2	GHR	CDHR1	ERCC6	KCNAB2	FLRT3	PTCH1	HERC2	TREX1	SOX9	GMNN	ROBO1	DLL1	ARL6	STX1A	KCNA1	LRAT	DNAJC30	NPAP1	IFT88	ALMS1	SCN1B	SETBP1	CDC42BPB	RERE	CNGA1	SGPL1	STT3A	TRIM32	RNASEH2A	RIPK4	CNGB1	POLE	RYR1	YWHAE	DTYMK	ACTA1	PLAG1	SNORD116-1	PRKCZ	LMX1B	IFT74	VAMP7	B3GALNT2	MKKS	MNX1	TOGARAM1	PRCD	SOX2	WASHC5	SRA1	SMC3	PAFAH1B1	HOXA13	HERC1	POLR1B	BUD23	EED	NEK1	SMO	ARL2BP	SLC25A24	ZNF408	MAP3K1	CDKN1C	SAG	SATB2	RAB3GAP1	PPP1R12A	GRIP1	SIX6	TDGF1	UBE4B	NIPBL	BBS7	HGSNAT	TCF12	PIGA	GTF2IRD2	LIMK1	IFIH1	BBS9	RHO	ANK1	FAT4	SAMHD1	ADAR	GRIN1	IDH3B	DHX38	TMEM270	LHB	SOX10	NEUROD2	OTUD5	GAS1	RNU4ATAC	PIEZO2	ALX4	DIS3L2	SALL1	TSPYL1	RPGR	HOXD13	AHR	DNAJC19	BUB1B	PNKP
HP_LARYNGEAL_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARYNGEAL_HYPOPLASIA	INTU	CILK1	PRRX1	HYLS1	SF3B4	KRAS
HP_LARYNGEAL_CLEFT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARYNGEAL_CLEFT	CAPN15	FBXW7	MID1	EDN1	GLI3	SPTBN1
HP_LARYNGOTRACHEOMALACIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARYNGOTRACHEOMALACIA	TRRAP	FLNB	COL2A1	EMC1	KIF22	TONSL	HK1
HP_REPETITIVE_COMPULSIVE_BEHAVIOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REPETITIVE_COMPULSIVE_BEHAVIOR	WDR26	FOXP1	NR2F1	DNAJC19	TSC2	IFNG	TSC1	AUTS2	SYT1	GRN	MECP2	SPTBN1
HP_NO_SOCIAL_INTERACTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NO_SOCIAL_INTERACTION	GFM2	TRIM8	IQSEC2	SH2B1	ACOX1	EXTL3
HP_AUDITORY_HALLUCINATIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AUDITORY_HALLUCINATIONS	DEPDC5	NPRL2	DNAJC5	CSF1R	CACNA1A	MMACHC	RELN	CDH2	CLN6	CEP85L	NPRL3	FIG4	LGI1	SON
HP_INAPPROPRIATE_SEXUAL_BEHAVIOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INAPPROPRIATE_SEXUAL_BEHAVIOR	ATP7B	PSEN1	GNAS	GRN	MAPT
HP_OBSESSIVE_COMPULSIVE_TRAIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OBSESSIVE_COMPULSIVE_TRAIT	SCN2A	SCN1A	MAGEL2	SYNGAP1	SCN9A	SNRPN	FMO3	HCN1	MLXIPL	GATAD2B	DMPK	ASH1L	PCDH19	TRIO	NDN	GABRG2	PANK2	SCN1B	SLC45A1	GABRD	USP7	GABRA1	FMR1	STX1B	YWHAG	OCA2	ADGRV1	TIAM1	CLN5	ELN
HP_APLASIA_HYPOPLASIA_OF_THE_EAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_EAR	EIF5A	SEMA3E	HS6ST2	FGFR2	HOXA2	HIVEP2	EDNRA	GREB1L	CASZ1	POLR1C	RPS26	FAT4	MEG3	ORC1	RPS24	SPEN	GATA1	MBD5	CDT1	SKI	NSD2	SIX1	TSR2	ORC6	HSPG2	RPS27	TCTN3	GLI3	RSPRY1	ADA2	TWIST2	SMARCA2	RPS28	MED12	SPOP	POC1A	RBM10	CPLX1	RPL15	FANCL	FGFR3	OTUD6B	RPL11	ORC4	NIN	FOXI1	RPS29	KCNJ10	CDC6	FANCB	DDR2	LMBRD1	MAPRE2	TPRKB	DHODH	RPL27	RPL35A	EYA1	HOXA13	PAK1	HSPA9	LETM1	PSMD12	FBXO11	TWIST1	TCOF1	FGF10	PRDM16	STAG2	LUZP1	AGA	EFTUD2	SMAD4	CD96	RPS10	WDR4	PCNT	SKIC3	POMT1	COG1	FANCF	PDPN	NFIX	CHD7	POLR1D	PIGG	SETD1A	KCNAB2	DDX11	CENPJ	SIAH1	ZMYM2	HDAC8	PIGN	FIG4	GMNN	MAP1B	TFAP2A	CHD5	RPL18	NELFA	NUP107	RPL31	MAF	RPL5	CRPPA	ITGB4	PCGF2	ATRX	NUP133	RERE	LAGE3	SIX5	GABRD	CNOT1	PIK3CA	RIPK4	POLE	FKRP	GNAI3	LAS1L	CDC45	KCTD1	RPL26	ITGA6	SLC26A4	HNRNPK	PRKCZ	INTU	POMT2	SALL1	OSGEP	FGF3	DLK1	MAN2C1	SF3B4	CHST3	SLC35C1	PRIM1	SF3B2	WNT3	TBX15	DCHS1	KIF15	POLR1B	RPS19	B3GLCT	MMP23B	POLR1A	TP63	ABHD5	RPS15A	BPTF	RPS20	POLA1	MSX2	MCM5	PBX1	WDR73	TP53RK	RIC1	UBE4B	DACT1	BMP2	EDN1	FKTN	RPS17	SIM1	RTL1	PLCB4	PAM16	ZNF462	UQCRH	RPL35	B3GAT3	RNU4ATAC	LARGE1	RPS7	AMER1	ADNP	CTBP1	GBA1	PLEC	RSPO2
HP_APLASIA_HYPOPLASIA_OF_THE_INNER_EAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_INNER_EAR	SIX1	KCNJ10	DDX11	EYA1	FGF3	SLC26A4	SIX5	GREB1L	FOXI1
HP_ABNORMAL_PROSTATE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PROSTATE_MORPHOLOGY	BTK	RNASEL	TP53	PRTN3	ZFHX3	PTEN	CHEK2	NAB2	RAD51	EPHB2	STAT6	HLA-DPB1	RAD50	COL14A1	BRCA1	AR	HGD	KLF6	RNF43	RAD51D	RAD51C	HLA-DPA1	PALB2	BMPR1A	BARD1	AAGAB	MDM2	CDH1	MRE11	BRIP1	APC	PTPN22	FOXE1	MXI1	CDKN2A	BRCA2	GREM1	CTLA4	MAD1L1	NBN	NTHL1	PHF6
HP_CONGENITAL_BILATERAL_HIP_DISLOCATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_BILATERAL_HIP_DISLOCATION	PLOD1	SHROOM4	COL12A1	COL1A1	CLTCL1	FBLN1	TELO2
HP_DELAYED_PUBIC_BONE_OSSIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_PUBIC_BONE_OSSIFICATION	GJB2	COL2A1	NKX3-2	RUNX2	SIK3	GJB6
HP_LIMITED_HIP_MOVEMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_HIP_MOVEMENT	ACTA1	COMP	GNPTAB	MYH3	MAP3K20	SLC10A7	KAT6B	MYL1	ZBTB20	PI4KA	HS2ST1	PTH1R	DST	MYH7	TPM3	PIEZO2	ERLIN2	HGD	RMRP	TNNT1	RYR1	EXT2	SCYL2	ERGIC1	GNB2	SLC6A9	ZC4H2	PIGA	SPEG	TELO2	FKBP10	NALCN	MYL2	TTN	DYSF	ERCC8	SETD2	GARS1	COL25A1	COL2A1	TPM2	ITGA7	EXT1	HSPG2	UBA1	UNC80	APC2	PNPT1	TRPV4	NSD1	SLC26A2	SELENON	MMP2	RNU4ATAC	CHST3	PIGY	ZMPSTE24	NFIX	FGFR3	HACD1	F8	MATN3	BICD2	GPC6	MYL11	FBN2	LMNA	NIPA1	KY	MAP3K7	BIN1	LGI4	P4HTM
HP_HYPOPLASIA_OF_THE_FEMORAL_HEAD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_FEMORAL_HEAD	IDUA	POP1	SLC26A2	IFNGR1	TRAF3IP1
HP_ACETABULAR_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACETABULAR_DYSPLASIA	AP4B1	SCYL2	NRCAM	ERGIC1	B3GALT6	SLC35A3	AP4M1	AP4E1	GUSB	EIF4A3	EXTL3	GLB1	CHRNG	TIMM22	COMP	COL25A1	AP3B1	VPS33A	POLR1A	SLC26A2	MYO18B	RPS15A	AP4S1
HP_FLATTENED_FEMORAL_HEAD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLATTENED_FEMORAL_HEAD	PRG4	COL2A1	TRAPPC2	RSPRY1	TRPV4	GLB1	RAB33B
HP_LARGE_ILIAC_WING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_ILIAC_WING	B3GALT6	AMER1	RNU4ATAC	ATP7A	SMAD4
HP_DELAYED_PROXIMAL_FEMORAL_EPIPHYSEAL_OSSIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_PROXIMAL_FEMORAL_EPIPHYSEAL_OSSIFICATION	TPO	LHX3	POU1F1	TG	MATN3	SLC5A5	HESX1	IYD	TSHB	B3GALT6	DUOXA2	RNU4ATAC	LHX4	DUOX2	TSHR	PROP1	COL2A1
HP_HYPOPLASTIC_PUBIC_RAMI	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_PUBIC_RAMI	NELFA	CTBP1	PIGG	CPLX1	LETM1	NSD2
HP_IRREGULAR_ACETABULAR_ROOF	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRREGULAR_ACETABULAR_ROOF	COMP	TRPV4	COL2A1	ARSK	CCN6	COL10A1	UFSP2
HP_HYPOPLASTIC_PELVIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_PELVIS	PORCN	OBSL1	WNT7A	POC1A	ERCC8	FGFR3	CUL7	SMARCAL1	COMP	CEP120	NSDHL	COL2A1	ERCC6	RSPO2	CCDC8	WNT3
HP_HIP_OSTEOARTHRITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIP_OSTEOARTHRITIS	COMP	CLCN7	COL2A1	PTPN2	IL2RA	ACAN	IL2RB	FRZB	HLA-B	PTPN22	TRAPPC2	STAT4	ANKRD55	TRPV4	SMAD3	SMAD2	GDF5	CD247
HP_SEVERE_INTRAUTERINE_GROWTH_RETARDATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_INTRAUTERINE_GROWTH_RETARDATION	POLR3A	IGF2	CEP57	ESCO2	TBCE	PTF1A	EMG1	IGF1	GRB10	INSR	H19	NIN
HP_MODERATELY_SHORT_STATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MODERATELY_SHORT_STATURE	SLC39A13	HOXD13	SLC26A2	RUNX2	SELENOI
HP_SEVERE_POSTNATAL_GROWTH_RETARDATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_POSTNATAL_GROWTH_RETARDATION	BRD4	SHPK	HDAC8	PTPN2	RAD21	CD247	TBC1D20	LETM1	CPLX1	IL2RB	EBP	INSR	FGFRL1	EMG1	SMC3	RNU4ATAC	PRIM1	IL2RA	RYR1	RPL10	LHX4	POU1F1	PPP1R15B	WFS1	NIPBL	SMC1A	ERCC8	IGF1	STAT4	GNPTAB	TSHB	CTBP1	GATA3	TRMT10A	NSD2	BLM	PTPN22	ANKRD55	NIN
HP_FAILURE_TO_THRIVE_SECONDARY_TO_RECURRENT_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FAILURE_TO_THRIVE_SECONDARY_TO_RECURRENT_INFECTIONS	RAG1	RAG2	CD3E	CD247	IL7R	CD3D
HP_FEEDING_DIFFICULTIES_IN_INFANCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEEDING_DIFFICULTIES_IN_INFANCY	FGF8	TSEN2	TFG	FKRP	DLL1	ZIC2	SEMA3E	AASS	SH3BP2	POU1F1	CTCF	SAMHD1	SPATA5	OPA1	PLCH1	CPLANE1	DEAF1	UGDH	ARHGAP29	FGFR2	TGIF1	ZNF699	CASZ1	KIAA0753	PURA	PIGY	IDH1	ASXL3	SPG11	NODAL	RTL1	PTPN11	KRAS	DPYD	MTM1	PGAP1	SIX3	ASXL1	UBA1	SPOP	GSX2	MAGEL2	EDEM3	DHCR7	HSPG2	PLAG1	GP1BB	CBY1	TIMM22	TRAPPC4	AVPR2	NDUFB8	UQCRC2	SCO1	TET3	PDE10A	COX16	RREB1	NALCN	PDGFRA	DYRK1A	TMEM237	PEX16	TTC21B	RRAS	SKI	UNC80	SMC1A	CSPP1	RIT1	NDUFAF8	GAS1	PHIP	PCCB	PEX6	COL6A2	STIL	SHH	MED12L	CREBBP	NRCAM	GFM2	TOP3A	DYNC2I2	TPO	TOPORS	SATB2	FOXH1	ASXL2	ERCC5	HSD17B4	DYNC2I1	BCKDHA	TP63	RPS6KA3	SLC6A8	DST	IYD	YY1	SPTLC1	TRAF3IP2	TMEM67	GALC	HYLS1	TMEM218	CHAT	TRAPPC12	TSEN54	TBX1	PRDM16	FARS2	MYL2	CDH1	FLII	MECP2	MCCC1	RYR1	UBE3A	TPM2	HRAS	DUOXA2	HNRNPK	RETREG1	DEGS1	KIF7	LHX3	ARID1A	BMP4	PDPN	TGFBR2	CEP41	HLCS	LRPPRC	FARSA	PCCA	RAI1	SMARCD1	CDON	AQP2	SUFU	SCO2	GLI2	ATP6V1B2	HACD1	MOCS1	ASL	KANSL1	ACTA1	CC2D2A	SCYL2	NDN	MID1	MT-TE	B3GALT6	PPP1CB	SDHB	PDE6D	DYNC2H1	COL6A3	RAD21	SYNGAP1	PCGF2	LAMA2	RHBDF2	RNF13	FGFR1	NUP214	SLC25A22	IGF2	SNORD115-1	RERE	SPTBN1	UBB	SLC16A2	EZH2	NUDT2	NACC1	DYNC2LI1	NAA20	GABRD	PWRN1	SPTBN4	PRUNE1	NRAS	CHD7	ASPA	GNB2	ERCC6	TG	PWAR1	KMT2D	ARSA	PNPT1	SOX11	POGZ	KRT5	ALG12	MYO1H	CHRNA1	CNOT2	COX10	UBE3B	EPG5	RAPSN	GOT2	TBC1D20	EFTUD2	KCNK9	RAC1	PSAP	SLC9A6	SLC25A1	GRB10	REV3L	TSPYL1	PEX5	SURF1	CISD2	CCDC32	COLQ	NDUFAF3	TSEN34	SCNN1B	PANK2	B3GLCT	PTS	SELENON	MGAT2	TK2	GPT2	MMP23B	PLXND1	VPS13B	FLNA	POLR1B	TCTN1	BLM	COMT	ERCC8	BIN1	MEG3	AFF4	OCA2	CCDC22	CDK8	DGUOK	SNRPN	EP300	ZMIZ1	SEC24C	LZTR1	CHRNB1	GGPS1	ATAD3A	KDM6A	YIF1B	PHF6	RPGRIP1L	PIEZO2	HSPD1	SCNN1G	SDHAF1	FLI1	COQ2	DCHS1	SON	PEX10	WDR26	ALS2	PIGT	MYH3	MMAB	DBT	IL17RA	FKTN	NAPB	NLRC4	IFT140	SCN1A	TCTN2	ERCC1	ATP6V0A1	ITGA7	PDSS2	PIGO	COX8A	BRAF	CARS1	OCRL	POLR3K	SDHD	DPYS	BTD	PRDX1	HADHA	NONO	FOXP1	CASR	SLC5A7	DUOX2	ELP1	SIGMAR1	ZNHIT3	SYT2	SMARCB1	TRIO	LARGE1	FLCN	GRM7	IFT80	SYNE1	KIAA0586	KDM3B	SOS1	FDFT1	DISP1	PNPO	NFIX	KRT14	DALRD3	CEP120	DLG1	TRMU	TXN2	ATP7A	CNOT3	COL6A1	BRD4	KLHL40	EIF5A	MAP3K20	KATNIP	ITCH	H19	CASK	RPL10	WDR19	MMACHC	TSHB	GRHL3	COG5	MKRN3	NSD1	COL1A1	HMGA2	CLDN16	KMT5B	CBL	BCOR	COL13A1	PTCH1	SPEN	PIGV	RRAS2	INPP5E	ATPAF2	ELN	TDGF1	TSHR	PIBF1	ARMC9	AIFM1	TUBB6	TCTN3	HDAC8	ARID1B	TGFB1	NDUFS4	NDUFS2	CLEC7A	COL7A1	CYP11B2	NDUFS8	PEX3	PAX8	CPT2	BCKDHB	PMM2	DNM1L	PEX19	MRAS	CLCN6	ARX	MMAA	UQCRFS1	IRF6	PTPN23	HADH	BCS1L	SCN3A	MAP2K2	PIGQ	FAT4	PSAT1	IFT172	RARS2	WWOX	PPP1R21	ECHS1	OFD1	VAMP1	TRIP4	UBTF	SUZ12	IQSEC2	DLK1	LUZP1	PRPS1	EN1	FUS	PEX1	TREX1	TXNL4A	DDC	MRPS16	PEX13	SMARCC2	POMT1	MTR	SLC46A1	ARL13B	TUBB3	CNTN1	ATP10A	COL2A1	LYRM4	SIK1	MLXIPL	KCNAB2	PROP1	IL17F	RALGAPA1	PLAA	HERC2	UGP2	MSX1	RAB3GAP2	PIGN	GLRA2	KIF1A	GAA	MOGS	PEX2	PQBP1	MYO9A	PRKCSH	GTPBP3	AUTS2	LIFR	NPAP1	TBC1D24	SRP54	ATRX	TANGO2	HTRA2	ST3GAL5	LHX4	ERCC2	DMPK	PEX11B	SCNN1A	SLC18A3	TSFM	KAT8	ODC1	ACTN2	TIMMDC1	HIRA	CHRND	STAG2	SNORD116-1	PRKCZ	SETBP1	PEX12	VRK1	SLC1A4	TOGARAM1	TSEN15	POMT2	PPP2R1A	C2CD3	B9D2	SOS2	WASHC5	LRP5	EMG1	ARVCF	PUF60	MKS1	TOR1A	PDHA1	ORC1	SMC3	ALG14	COG1	SPRED2	KIF15	ACTL6B	EED	SNAP25	PGAP2	USP7	SLC5A5	CEP104	RASA2	SLC5A6	RAF1	MTRFR	DPM1	LONP1	PARS2	FBN1	MAP2K1	RAB3GAP1	GNPTAB	AHI1	CDKN1C	ARL3	WNK1	WFS1	HESX1	PEX14	LAMB2	TPM3	RNF6	NECTIN1	AGRN	UBE4B	DLEC1	NIPBL	SDHA	PIGW	PGAP3	EPB41L1	SIM1	TMEM216	TBCK	HADHB	CRLF1	PIGU	SCN4A	SMPD1	RNF2	SEC63	SCN9A	SIN3A	DCX	JMJD1C	OTUD5	ATP6V0A2	CLN8	FAM149B1	CHRNE	SUCLA2	DLX4	PEX26	CLTCL1	IL17RC	SLC52A1	ADNP	UNC45B	B9D1	UFD1	SEPSECS	BUB1B	MTHFR	PIGL	MAP3K7	TALDO1
HP_DISPROPORTIONATE_SHORT_LIMB_SHORT_STATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISPROPORTIONATE_SHORT_LIMB_SHORT_STATURE	BMPR1B	SOX9	CTSK	IFT122	GDF5	MATN3	INPPL1	HSPG2	HS2ST1	FZD2	KIAA0753	MYSM1	COL2A1	TRIP11	GNPAT	LBR	KYNU	HDAC6	ACAN	COL11A1	MIR140	SHOX	GPX4	DYNC2I1	CANT1	XRCC4	GSC	PRKAR1A	IFT140	CLPB	SLC26A2	XYLT1	WDR35	EVC2	TRPV4	DHCR7	AGPS	CSGALNACT1	FGFR3	SIK3	COL1A1	IFT52	TONSL	SLC39A8	WNT5A	CHST3	P3H1	COG1	CREB3L1	TBX15	COL10A1	GLI1	CEP57	EBP	IFT80	RMRP	POC1A	B3GLCT	FGFR1	FLNB	DYM	IHH	ASXL1	COL1A2	MBTPS2	ALPL	COMP	ALG12	PKDCC	MAB21L2	DYNC2H1	DDRGK1	DVL1	PCYT1A	CFAP410	PEX7	MESD	KDELR2	IFT43	PTH1R	KIAA0586	ARCN1	NXN	MMP13	WDR19	KMT2A	PPIB	SLC35D1	CSPP1	DDR2	NSMCE2	FGFR2	MTOR	PRKG2	GPC6	DYNC2I2	B3GAT3	DYNC2LI1	DHCR24	ALG9	CRTAP	CEP120	EVC	ROR2	PRKACA	PRKACB
HP_ADIPOSE_TISSUE_LOSS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADIPOSE_TISSUE_LOSS	POLR3A	ERCC3	ERCC2	TARS1	RNF113A	LMNA	PLIN1	CIDEC	LIPE	ERCC6	PRIM1	FOS	PSMB8	ERCC4	LMNB2	MPLKIP	ZMPSTE24	CARS1	PPARG	KCNJ6	CAV1	INSR	ERCC8	CAVIN1	BSCL2	GTF2H5	BLM	AGPAT2	GTF2E2	FBN1
HP_SEVERE_SHORT_LIMB_DWARFISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_SHORT_LIMB_DWARFISM	NSMCE2	FLNB	LBR	GDF5	XRCC4
HP_POSTNATAL_GROWTH_RETARDATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTNATAL_GROWTH_RETARDATION	VPS35L	GHSR	BRD4	MGAT2	H19	SEMA3E	BLM	CYP27B1	NSD2	CUL7	ARSL	NDE1	DLK1	LMNA	RTL1	HMGA2	RNPC3	RAB18	ALDH18A1	KCNJ6	MEG3	SMARCB1	CCBE1	ADAMTS3	PTPN11	FAT4	GNPTAB	ERCC6	IGF2	CTBP1	KDM6A	PRKAR1A	MBD5	ARG1	DMXL2	GNA11	ATP6V1A	SHPK	HDAC8	COQ7	ARID1B	FAM111A	SEC24D	TCF4	IL2RB	FGFRL1	CHD1	PSPH	SMOC1	SMARCA4	GJB2	SMARCA2	LIG4	STAT5B	IL2RA	LHX4	ERCC4	ERCC8	EBP	LARP7	SMC1A	TAF1	DYM	FLNA	CDC42	CREBBP	HLA-DQB1	SATB2	MTX2	PCYT1A	MASP1	KIF20A	MYH3	NSUN2	ANKRD55	RPL10	PPP1R15B	WFS1	PTPN2	ATP6V0A2	CTNNB1	SCUBE3	SIN3A	BRAF	COLEC11	IGF1	DCX	GINS1	BRIP1	TBCE	UFSP2	KMT2A	PCNT	TMCO1	PYGL	ARID1A	COG1	CD247	SPTA1	TUBB3	GM2A	CHD7	ATR	STAT4	NALCN	RNU4ATAC	MCM4	PDE4D	POU1F1	SMARCC2	TFAP2A	EPG5	SMARCD1	MAF	DHODH	MYPN	RAB3GAP2	NIN	TNNI3	RAD21	ESCO2	LETM1	CPLX1	ELN	RTEL1	SETBP1	ATRX	RERE	PLAGL1	KIF7	ATP6V1E1	RYR1	FIG4	DNAJC19	CYP11B2	EPB41	NBAS	COLEC10	PLAG1	INSR	SALL4	TSHB	CACNA1C	PTPN22	KMT2D	COG4	PNPLA8	SOX4	FBLN5	TBC1D20	TNNT2	CDK10	WASHC5	SOX2	EMG1	CDAN1	GRB10	FLNC	SMC3	TGDS	PRIM1	RPL13	KIF15	PTRH2	CKAP2L	B3GLCT	POU3F4	CTC1	NEXMIF	GATA3	TRMT10A	VAC14	GJB6	IGFALS	HLA-DQA1	MAP2K1	CCDC22	ARID2	CDKN1C	EP300	SIX6	PALB2	ACTB	PAPPA2	KANSL1	NIPBL	MTRR	B3GALT6	XYLT1	NAA10	COG7	PLOD3	ANKRD17	MCTP2	CASK	SLC5A2	DPF2	IARS1	SMARCE1	SOX11	GYPC	PHKG2	HYMAI	GUSB	SLC2A1	AKR1D1	PHKB	PIEZO2	CYP2R1	SNRPB	SYNE1	BNC2	SPTB	BUB1B
HP_RHIZOMELIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RHIZOMELIA	ALG12	PKDCC	MAB21L2	ACAN	IFT122	CTSK	DVL1	PCYT1A	FZD2	CFAP410	MYSM1	GNPAT	PEX7	LBR	KYNU	FGFR1	HDAC6	RMRP	COL11A1	B3GLCT	GPX4	IFT43	GDF5	GSC	PTH1R	KIAA0586	ARCN1	COL2A1	IFT140	MMP13	WDR19	CLPB	SLC26A2	WDR35	KMT2A	CHST3	CSPP1	DHCR7	INPPL1	COG1	AGPS	FGFR2	FGFR3	SIK3	DYM	MTOR	IFT52	TONSL	WNT5A	PRKG2	GPC6	IFT80	B3GAT3	SHOX	CREB3L1	DHCR24	TBX15	FLNB	CEP57	EBP	POC1A	ALG9	CRTAP	CEP120	ASXL1	MBTPS2
HP_CHILDHOOD_ONSET_TRUNCAL_OBESITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHILDHOOD_ONSET_TRUNCAL_OBESITY	VPS13B	PCSK1	MC4R	POMC	INPP5E
HP_NEONATAL_SHORT_LIMB_SHORT_STATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_SHORT_LIMB_SHORT_STATURE	GLI1	SLC26A2	SOX9	RMRP	FGFR3	EVC2	COL1A1	PTH1R	COL1A2	EVC	DYNC2LI1	PRKACA	COL2A1	PRKACB
HP_GENERALIZED_NEONATAL_HYPOTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_NEONATAL_HYPOTONIA	EEF1A2	PEX16	PEX26	PEX3	SYNE1	PEX12	PEX2	ADNP	ATP2B3	COG4	TBC1D24	PEX6	VAC14	PSMD12	BPTF	FIG4	MTHFR	MED12	SUCLG1	MT-TT	PEX10	GDAP1
HP_AXIAL_HYPOTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AXIAL_HYPOTONIA	AMPD2	EXTL3	TSEN2	PCLO	ERCC6	WARS2	ADCY5	ZIC2	CACNA1E	TRNT1	STIL	HTT	GLYCTK	SAMHD1	OPA1	PLCH1	GJC2	PAFAH1B1	UGDH	GLS	TGIF1	RAB18	RNASEH2C	VPS41	NODAL	RNU7-1	FBXO28	NECAP1	GNPTAB	PTCH1	CAMK2A	AP3D1	PGAP1	PLP1	NSMCE3	IFIH1	SMG9	TDGF1	SIX3	SUCLG1	ASXL1	SATB1	PNPT1	PCDH12	PSMC1	LGI3	TUBB4A	SCO1	SPR	PDE10A	OCLN	SLC18A2	MINPP1	MECP2	ALG6	CACNA2D2	DNAJC12	GALC	GRM1	NALCN	OSTM1	KAT6A	KCNQ3	LIPT2	DLL1	KCNQ2	CLCN6	ALG3	GM2A	MFF	SUOX	PTPN23	FOXH1	PCBD1	UNC80	BCS1L	FDXR	GAS1	PMM2	GRIA3	GRIN1	FGF8	PCCB	SOD1	GRIN2D	GDI1	DPAGT1	GUF1	TIAM1	SHH	RNASEH2B	HK1	PRPS1	CHMP1A	GFM2	PSAT1	RARS2	NDUFS2	NDUFC2	RNU12	LMNB1	NARS2	GPHN	SLC6A8	SLC25A19	VPS11	RUSC2	NSUN2	DHDDS	PPP1R15B	AARS1	VAMP2	TRAPPC12	SLC6A9	TSEN54	SMC1A	SLC39A14	FARS2	MKS1	KIDINS220	ATG7	TREX1	DCX	AIMP1	DDC	GFM1	ATAD3A	NMNAT1	TUBGCP2	PYCR2	BRAT1	DDX6	NEUROD2	HACE1	SPATA5	ZNF526	WDR73	GRIN2A	TUBB3	DISP1	TMTC3	PAX7	EBF3	PIK3R2	PCCA	WWOX	EIF2S3	GNB1	CDON	SLC25A12	SLC30A9	ABCC8	PRDM13	GLI2	NDUFB11	MACF1	UGP2	NDUFA1	ASNS	CDH2	TARS2	RYR1	DARS1	RAB3GAP2	PDE2A	EXOSC9	MAN2B1	SDHB	EXOSC3	PCGF2	FGFR1	CAMTA1	RARS1	SLC38A3	SLC16A2	B4GALT1	KIF1A	FGF12	STXBP1	RNASEH2A	IER3IP1	PRUNE1	CEP85L	DENND5A	RTTN	ARFGEF1	H4C5	STAG2	WDR45B	SLC35A2	SLC13A5	ALG11	CACNA1C	MRPS22	CACNA1G	CTNNB1	TSEN15	ELP2	LMX1B	SLC6A3	NSRP1	FARSB	UBE3B	AP3B2	VPS13D	MRPL12	PIGA	COG4	EIF2AK2	INSR	AP4S1	DNM1L	PIGY	ASH1L	NRROS	TSEN34	PSAP	ACTL6B	NFIX	NHLRC2	ADARB1	TBCE	LSM11	PTS	RRM2B	GFER	CERT1	NEXMIF	UFC1	TRMT10A	TNR	ERCC8	ARX	MBOAT7	PARS2	LIPT1	CLDN11	GRIK2	GJA5	MICOS13	CAMK2B	YIF1B	KCNJ11	PLCB1	GRIN2B	SOX10	SLC19A3	HYCC1	KCNMA1	PEX3	NAPB	SCN1A	CASK	ERCC1	TBC1D2B	DHPS	ROBO3	SET	CHP1	GJA8	ADAR	NFU1	PAM16	NEDD4L	LRRC32	MDH1	PDHX	EMC1	PRR12	NDUFA6	PIGP	GAD1	MED23	PDP1	GRM7	ZSWIM6	TH	ACSF3	SLC1A2	NONO	PNPO	FAR1	LYRM7	HEXB	PLA2G6	NAXD	SEPSECS
HP_GENERALIZED_LYMPHADENOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_LYMPHADENOPATHY	RAC2	IFNGR1	DCLRE1C	PRKCD	RNF168	IFIH1	HLA-DRB1	LRBA
HP_ACUTE_RHABDOMYOLYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_RHABDOMYOLYSIS	TANGO2	CTDP1	LPIN1	CACNA1S	RYR1
HP_DISTAL_LOWER_LIMB_AMYOTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_LOWER_LIMB_AMYOTROPHY	ATL1	FLRT1	ADSS1	GJB1	DYSF	CUL4B	CPT1C	NOTCH2NLC	MFN2	MYH7	YY1	KIF5A	RYR1	CADM3	HINT1	FGD4	MORC2	AARS1	BICD2	NEFL	ATXN3	KLC2	SLC12A6	TRPV4	KRT5	TCAP	FLNC	HSPB1	MAG	KDM5C	MTRFR	PDK3	GIPC1	PMP22	RAB7A	LMNA	HSPB3	TPM3	INF2	ALS2	KRT14	FBLN5	BSCL2	MT-TE	TFG
HP_PELVIC_GIRDLE_AMYOTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PELVIC_GIRDLE_AMYOTROPHY	CAPN3	GYG1	SMN1	VCP	SMN2
HP_INFANTILE_MUSCULAR_HYPOTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFANTILE_MUSCULAR_HYPOTONIA	UBE3A	ADAT3	TSEN2	NEK1	ZIC2	AASS	TUBB2B	STIL	SPATA5	PLCH1	DLK1	COG5	SNRPN	TGIF1	MT-ND1	PIGY	SMARCB1	ASXL3	NODAL	ACADS	EXTL3	DPYD	PTCH1	CAMK2A	PIGV	MT-ND5	TDGF1	SIX3	SUCLG1	UBA1	ATP6V1A	MAGEL2	SCN9A	UGT1A1	NDUFS2	SMARCA4	NDUFB8	H19	SLC25A22	ZEB2	CWF19L1	ADAR	PI4KA	NALCN	DLL1	TRAPPC11	MFF	SCN2A	SUOX	FGFR3	NUP62	FOXH1	BMP2	GNAO1	UNC80	GAS1	ARID1B	FGF8	ACADVL	DPAGT1	PIGQ	SHH	FAT4	CDC42	CPE	GFM2	PSAT1	IGF2	NAGS	SATB2	POMT1	RNU12	TRIM8	LARGE1	SLC19A3	UBTF	POMT2	WARS2	PCDH19	GALC	ATP6V0A2	TSEN54	TBCD	SLC39A14	ARX	NEU1	GLB1	DMXL2	MAN1B1	AHCY	MT-ND6	COG8	TRPS1	MT-ATP6	ARID1A	MECP2	FKRP	GRIN2A	TUBB3	DISP1	PAX7	MT-ND4	GM2A	EBF3	ATP10A	GNB1	CDON	GATAD2B	SCO2	GAMT	GLI2	ATP6V1B2	SIAH1	SMARCC2	GAA	SRD5A3	SMARCD1	ASAH1	SIK1	RYR1	DAG1	SCN1B	MAF	GTPBP3	MAN2B1	KCNA1	TBC1D24	FGFR1	MT-ND2	ADGRG1	ATRX	GLYCTK	RARS1	SRPX2	ERMARD	B4GALT1	ATP6V1E1	NACC1	PRUNE1	RTTN	PRMT7	KCNJ11	TELO2	GRM7	H4C5	STAG2	SLC35A2	ALG11	TSEN15	POGZ	SOX4	KCNH1	DOLK	PACS1	RAC1	DNMT3A	CLCN4	SMS	RPL10	MEG3	ITCH	GMPPB	SCN1A	SURF1	CDKL5	SYT1	RAI1	KIF15	NDUFAF3	TSEN34	PSAP	GABRG2	MT-TV	SARDH	PGAP2	GFER	MT-TK	SLC7A7	MTRFR	DPM1	ARID2	MOGS	COQ2	DCHS1	CASK	SON	MT-TW	NKX2-1	OCA2	PIGW	USP9X	PGAP3	SMC1A	MT-TL1	DPF2	PDSS2	PIGO	MED12	GRIN1	MT-ND3	SMARCE1	SOX11	PEX13	PIGP	NTNG2	NEUROD2	RTL1	LRP5	KCNN3	DEAF1	CLTCL1	MPDU1	ADNP	SIM1	GABRA1	HEXB	COL5A1	SEPSECS	PNKP	PIGL
HP_INTRINSIC_HAND_MUSCLE_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRINSIC_HAND_MUSCLE_ATROPHY	CHCHD10	SVBP	MPZ	VCP	NGLY1	PRX	TIA1	HINT1	DYSF	HSPB3	CHRNA1	JAG1	RYR1	TIMM8A	FLNC	LDB3	KLHL9	CAV3	PMP22	SLC12A6	HARS1	SQSTM1	MORC2	KIF1A	PDK3	GDAP1
HP_DISTAL_UPPER_LIMB_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_UPPER_LIMB_MUSCLE_WEAKNESS	MME	SBF2	PRRT2	ADSS1	VCP	HK1	TTN	DDHD2	SORD	TIA1	GIPC1	NEFL	NOTCH2NLC	CADM3	MORC2	SMPX	ATP1A2	HSPB3	MLIP	GMPPB	RYR1	FLNC	CACNA1A	SPTLC2	LMNA	DYSF	NDRG1	HARS1	FBLN5	SQSTM1	VWA1	TRPV4	TNR	JAG2	SCN1A	GDAP1
HP_TIBIALIS_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TIBIALIS_MUSCLE_WEAKNESS	MTRFR	TTN	MYH7	GIPC1	NOTCH2NLC	GNE	DYSF
HP_EXERCISE_INDUCED_MUSCLE_STIFFNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXERCISE_INDUCED_MUSCLE_STIFFNESS	MLIP	ATP2A1	PHKA1	SCN4A	PYGM	CAV3	SLC16A1
HP_MUSCLE_HYPERTROPHY_OF_THE_LOWER_EXTREMITIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_HYPERTROPHY_OF_THE_LOWER_EXTREMITIES	SLC25A1	CRPPA	SMN1	FKRP	POMT1	MYH7	DHX16	DYSF	MTMR14	CAV3	LARGE1	MICU1	LMNA	MYF6	POMT2	FKTN	PMP22	FRG1	TTN	LTBP4	RYR1	DPM3	PLEC	ANO5	SGCG	SGCA	TCAP	MAP3K20	DMD	SGCB	DNM2	PLIN1	CIDEC	RASA1	LIMS2	POPDC3	GMPPB	KCNA1	POMGNT2	DAG1	POMGNT1	AR	CHCHD10	UNC45B	BIN1	CAPN3	LAMA2	CLCN1	SGCD	SRY
HP_LEG_MUSCLE_STIFFNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEG_MUSCLE_STIFFNESS	ANO10	ZFYVE26	ATP13A2	KIF1A	SYNJ1	LDB3	MT-ATP6	PI4KA	VAMP1	DNAJC6	ABCD1	PODXL	SPAST	KIF5A	DARS2
HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_RESPIRATORY_CHAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_RESPIRATORY_CHAIN	CYC1	NDUFV2	COX5A	NDUFS2	NDUFA9	NDUFB10	NDUFS4	NDUFAF2	NDUFS6	ACAD9	NDUFS1	CARS2	LIPT1	NDUFAF8	NDUFAF5	NDUFV1	NDUFS3	TSFM	ISCU	COA6	TIMMDC1	TK2	KARS1	COX20	GFER	IBA57	ATP5F1D	MT-ND1	NDUFS7	MT-ND3	TACO1	TRMT5	ATPAF2	SUCLG1	VARS2	ATP5F1E	QRSL1	SLC25A4	FOXRED1	TMEM126B	NDUFA13	SDHA	CHCHD10	NDUFB7	MRPL12	TIMM22	SLC39A8	SLC19A3	BOLA3	PDHA1	NDUFS8	COX15	NUBPL	COX16	GATC	AARS2	UQCC2	NDUFA2	NFS1	BCS1L	RRM2B	NDUFAF1	MT-ND2	NDUFA12	MTRFR	SDHD	MTFMT	PET100	MRPS25	RARS2	MIEF2	DGUOK	NDUFC2	TMEM70	COA5	NDUFA4	SLC25A10	NDUFAF6	TIMM50	NDUFAF4	EARS2	COX6A2	SCO2	NDUFA11	NDUFA6	MRPS23	NDUFA1	COA8	GFM1	MPV17	NSUN3	MRPS16	NFU1	PTCD3	NDUFA10	NDUFAF3	TRIT1	UQCRH	COA3	LRPPRC	MECR	MRM2	ECHS1	COX4I1	NDUFB9	NDUFB11	PET117	SURF1	AIFM1	SUCLA2	POLG	SLC25A26	MGME1	LYRM7	MRPS14	TXN2	MT-TE	GTPBP3	NDUFB3	TRMU	NDUFA8	SDHB
HP_PROXIMAL_MUSCLE_WEAKNESS_IN_LOWER_LIMBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_MUSCLE_WEAKNESS_IN_LOWER_LIMBS	CHCHD10	SBF2	ADSS1	SLC25A4	HMBS	DYSF	MTMR14	TMEM43	POGLUT1	MFN2	LIPE	MYF6	MORC2	GDAP1	TRIM32	MLIP	TTN	LMNA	CPOX	RYR1	NEFL	COL6A2	EMD	PHKA1	ANXA11	SYNE2	ATP7B	HSPG2	TCAP	RRM2B	VMA21	REEP1	VCP	DNM2	FHL1	SORD	POPDC3	POLG2	ANO5	DMD	SMN1	SECISBP2	SMPX	TWNK	COL6A3	PIGN	FLNC	BICD2	DMXL2	COL6A1	DYNC1H1	BIN1	MYH7	SYNE1	POLG	VWA1	COL12A1	HEXB	LAMA2	JAG2	CRPPA	HNRNPA1
HP_PROXIMAL_MUSCLE_WEAKNESS_IN_UPPER_LIMBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_MUSCLE_WEAKNESS_IN_UPPER_LIMBS	CHCHD10	SBF2	ADSS1	HMBS	DYSF	MTMR14	KY	MYH7	TMEM43	CHRNA1	NOTCH2NLC	MFN2	LIPE	MYF6	LRP4	CHRNE	MORC2	LMNA	CPOX	RYR1	NEFL	CHRND	LDB3	EMD	MT-CO3	SLC12A6	ANXA11	SYNE2	RAPSN	TRPV4	GDAP1	COL13A1	TCAP	AGRN	CHRNB1	POMT1	VCP	DNM2	FHL1	ANO5	GIPC1	DOK7	FBXO38	LPIN1	SCN4A	SMPX	GMPPB	JAG1	AK9	PPOX	BIN1	SYNE1	VWA1	LAMA2	MT-CO1	JAG2	CRPPA	MUSK
HP_HYPOPLASIA_OF_THE_MUSCULATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_MUSCULATURE	HBB	RBM8A	MYMK	MAP3K20	HACD1	ALG9	MAP3K7	MYL2	ATP6V0A2	COLEC11	SALL4	SELENON	CAV3	GLE1	ACTA1	TPM3	FBN2	TPM2	ITGA7	PMP22	FLNA
HP_WEAKNESS_OF_THE_INTRINSIC_HAND_MUSCLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WEAKNESS_OF_THE_INTRINSIC_HAND_MUSCLES	STIM1	CHRNE	VCP	CHRNB1	CHRNA1	DOK7	FBXO38	SCN4A	LRP4	CADM3	HINT1	DYSF	CHRND	LDB3	KLHL9	CAV3	AK9	RAPSN	NEB	COL13A1	AGRN	MUSK
HP_EXERCISE_INDUCED_MUSCLE_FATIGUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXERCISE_INDUCED_MUSCLE_FATIGUE	PGK1	KCNJ18	AMPD3	CACNA1S	TRAPPC11	SCN4A	KCNE3	DBH	AMPD1	SLC16A1	GABRA3
HP_ABDOMINAL_WALL_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABDOMINAL_WALL_MUSCLE_WEAKNESS	FRG1	SKI	CYP27B1	PTEN	MYH7	SMCHD1	ANXA11	GYG1	VDR	PIGQ	CAPN3	MAP2K2	NF1	HNRNPA1
HP_INCREASED_CONNECTIVE_TISSUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CONNECTIVE_TISSUE	CHCHD10	POLR3A	KLHL41	POMC	MAP3K20	AKT2	DYSF	TNPO3	ACTA1	MC4R	LIMS2	NEFL	LMNA	LIPE	LAMA2	RYR1	TNXB	PCSK1	GATA1	UROS	MT-TK	NEB	PLEC	LMOD3	ANO5	KLHL40	INPP5K	TCAP	AIFM1
HP_FOOT_DORSIFLEXOR_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOOT_DORSIFLEXOR_WEAKNESS	COA7	IGHMBP2	SPG11	MAP3K20	FHL1	ATL3	VCP	HSPB1	NEB	FA2H	MYH7	SACS	LRP12	NOTCH2NLC	SCO2	MFN2	SQSTM1	MPV17	SPTLC2	LYST	MORC2	GBF1	GNB2	AARS1	ACTA1	COX20	MPZ	NEFL	TYMP	POLG	LDB3	EGR2	ATP1A1	ALDH18A1	TTN	SLC12A6	MME	RRM2B	CRYAB	MTRFR	SH3TC2	GDAP1	LMNA	LIG3	GIPC1	TPM2	GYG1	DES	SMCHD1	PNPLA2	RAB7A	RAI1	CFL2	COL6A3	SBF2	GNE	FLNC	INF2	SELENON	SPTLC1	KLHL41	SLC25A21	COL12A1	SYT2	KY	TBCE	REEP1	ADSS1	DYSF	TPM3	TIA1	MYOT	CADM3	HINT1	MARS1	SIGMAR1	PMP22	MYL2	COL6A2	LMOD3	TRPV4	ITGA7	LBR	TCAP	NF2	PRX	ORAI1	MCM3AP	HACD1	JAG1	COX6A1	ACTN2	KIF1B	DNAJB2	LRSAM1	COL6A1	GJB1	VWA1	KARS1	KIF1A	ATL1	BSCL2	HNRNPA1
HP_GENERALIZED_WEAKNESS_OF_LIMB_MUSCLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_WEAKNESS_OF_LIMB_MUSCLES	ALG2	DPAGT1	ALG14	GMPPB	GFPT1
HP_EXERCISE_INDUCED_RHABDOMYOLYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXERCISE_INDUCED_RHABDOMYOLYSIS	ACADVL	LDHA	PYGM	ALDOA	CACNA1S	RYR1
HP_DIFFICULTY_RUNNING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFICULTY_RUNNING	STIM1	ATP2A1	MYPN	MICU1	DYSF	ADSS1	KY	GFPT1	DYNC1H1	ALG2	FKRP	MFN2	PNPLA2	RYR1	MEGF10	MORC2	NEFL	TPM2	TTN	ANO5	SGCG	AGRN	KBTBD13	TCAP	KCNC3	COL12A1	VMA21	REEP1	VCP	YARS1	DNAJB6	TNPO3	POPDC3	FBXO38	ALG14	RAPSN	FHL1	PEX2	SPEG	FLNC	BICD2	PYROXD1	MT-TE	TPM3	LAMA2	DPAGT1	BIN1	GMPPB	MYH7
HP_PERONEAL_MUSCLE_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERONEAL_MUSCLE_ATROPHY	SACS	TRPV4	DES	PMP22	VPS13A	REEP1	WASHC5	LMNA	HINT1	TTN
HP_INCREASED_MUSCLE_GLYCOGEN_CONTENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_MUSCLE_GLYCOGEN_CONTENT	GAA	PHKA1	PFKM	PHKB	PHKA2	PHKG2	PYGM	MT-TE	MSTO1	TRMU	ENO3
HP_DISTAL_LOWER_LIMB_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_LOWER_LIMB_MUSCLE_WEAKNESS	CHCHD10	PNKP	PNPLA6	GNE	MATR3	MTMR14	MYH7	NOTCH2NLC	MFN2	DES	MORC2	SLC18A3	NEFL	IBA57	PLEC	LMNA	MT-ATP6	EXTL3	EGR2	MPZ	COL13A1	TTN	SLC12A6	ABCD1	PMP2	ATL1	MME	TRPV4	SLC25A1	CHAT	SORD	GIPC1	BSCL2	SECISBP2	DYSF	RAB7A	SMPX	HSPB3	MTRFR	REEP1	GMPPB	PMP22	SLC5A7	FLNC	SARDH	SPTLC2	SNAP25	NDRG1	DNM2	VHL	JAG2	SBF2	HSPB8	ADSS1	CPT1C	VAMP1	HINT1	AGRN	FGD4	SBF1	SCYL1	HARS1	TDP1	DHTKD1	MAPT	TCAP	CCND1	PRX	EMILIN1	VCP	HK1	DDHD2	ANO5	SYT2	MTTP	TPM3	HSPB1	BICD2	GARS1	GJB1	FBLN5	MYO9A	VWA1	GYG1	KIF1A	SLC5A6	GDAP1
HP_GENERALIZED_LIMB_MUSCLE_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_LIMB_MUSCLE_ATROPHY	KBTBD13	KLHL41	CARS1	TPM3	SPG11	SCYL1	ACTA1	PNPLA6	PUS1	TPM2	NEB	LEMD3	SCO2	YARS2	SGCD	MYPN	PNPLA2	GMPPB	DARS2	MYH7
HP_INCREASED_MUSCLE_LIPID_CONTENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_MUSCLE_LIPID_CONTENT	ZFHX4	KBTBD13	KLHL41	SELENON	SCN4A	CHCHD10	CACNA1S	NDUFS4	SDHA	MYH7	TTN	NDUFA4	SURF1	KCNJ18	NEB	KCNE3	MYPN	CPT2	PNPLA2	ISCU	TPM3	COX6A2	MT-TN	ACTA1	COL6A3	MSTO1	COL6A2	COL6A1	COQ8A	TPM2	COL12A1	MT-TE	COL25A1	ABHD5	TRMU	AFG3L2	SUCLG1	GABRA3
HP_INFANTILE_AXIAL_HYPOTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFANTILE_AXIAL_HYPOTONIA	GFM2	DISP1	PSAT1	TSEN2	SHH	FOXH1	RNU12	FGFR1	ZIC2	FGF8	TDGF1	STIL	RARS1	PLCH1	DLL1	GAS1	B4GALT1	WARS2	PTCH1	TGIF1	PRUNE1	GALC	RTTN	TSEN54	SLC39A14	NODAL	GLI2	CDON	STAG2	EXTL3	SMC1A	CAMK2A	TSEN15	SIX3	GRIN2A	TUBB3	PAX7	GM2A	GNB1	TSEN34	PSAP	MFF	GFER	HEXB	RYR1	DPAGT1	SEPSECS	MAN2B1
HP_PROGRESSIVE_DISTAL_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_DISTAL_MUSCLE_WEAKNESS	MYH14	CRYAB	TRPV4	MYOT	KLHL9	CAV3	GIPC1	NOTCH2NLC	LDB3	HADHA	PNPLA2	NEB	HADHB
HP_GENERALIZED_LIPODYSTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_LIPODYSTROPHY	LMNA	BSCL2	ZMPSTE24	MTX2	CAV1	KCNJ6	PSMG2	FBN1
HP_DECREASED_ACHILLES_REFLEX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_ACHILLES_REFLEX	MYH7	MTPAP	DYSF	FBXO38	IBA57	ADSS1	CRYAB	LDB3	PDK3	BICD2	GDAP1
HP_PROGRESSIVE_PROXIMAL_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_PROXIMAL_MUSCLE_WEAKNESS	CRYAB	PYGM	MYOT	MT-TL2	ANO5	GIPC1	NOTCH2NLC	PNPLA2	DYSF	MLIP	TRAPPC11	COL6A3	PLEC	VCP	LDB3	MT-TL1	COL6A2	TK2	COL6A1	MT-TN	COL12A1	MT-TE	ABHD5	NEB
HP_WEAKNESS_OF_LONG_FINGER_EXTENSOR_MUSCLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WEAKNESS_OF_LONG_FINGER_EXTENSOR_MUSCLES	TIA1	CHRNE	GNE	CHRND	LDB3	AK9	CHRNA1	SQSTM1	CHRNB1	RAPSN	DOK7	SCN4A	MYH7	LRP4	NEB	COL13A1	HINT1	AGRN	MUSK
HP_ALVEOLAR_RIDGE_OVERGROWTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALVEOLAR_RIDGE_OVERGROWTH	NTRK1	WDR4	OFD1	PIGA	SH3BP2	CD96	RBM10	SNRPN	DPH5	DHCR24	FTO	BRF1	TBX15
HP_SPEECH_ARTICULATION_DIFFICULTIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPEECH_ARTICULATION_DIFFICULTIES	NECTIN1	MAGEL2	GRIN2A	SNRPN	BMP4	SH2B1	TP63	MSX1	PLCB4	UBB	FOXP1	HTT	ARHGAP29	NF1	GRHL3	MAPT	PDGFRA	GNAI3	NDN	STAG2	IRF6	DLX4	GABRG2	SRPX2	SLC2A3	GALT	CDH1	FRRS1L	ALDH4A1	OCA2	DLG1
HP_CHRONIC_ORAL_CANDIDIASIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_ORAL_CANDIDIASIS	IL2RG	CD40LG	STAT1	TFRC	IL2RA	IKBKB	WDR1	CD3G	MVK	DCLRE1C	IL17RA	DOCK2	CD247	KNSTRN	CD3D	PIK3CD	TLR8	AP3B1	CD3E	CARD9	ZAP70	AIRE	ZNF341	JAK3
HP_MEDIAN_CLEFT_PALATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEDIAN_CLEFT_PALATE	ALX3	TGIF1	HESX1	DVL1	WNT5A	OTX2	PTCH1	FAM20C	SLC2A10	STAG2	POU1F1	LHX4	CILK1	GLI2	PITX1	FOXA2	EPG5	PROP1	ZSWIM6	NUAK2	DVL3	FZD2	LBR	TWIST1	SIX3
HP_ANTERIOR_OPEN_BITE_MALOCCLUSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_OPEN_BITE_MALOCCLUSION	GNAI3	ITGB6	KLK4	RELT	BMP2	GPR68	FAM83H	DSPP	MMP20	ENAM	ATP6V1B2	AMELX	KCNN3	KCNH1
HP_APLASIA_HYPOPLASIA_INVOLVING_THE_PELVIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_PELVIS	IDUA	SLC10A7	KAT6B	COL2A1	HSPG2	MATN3	WNT7A	SETBP1	CUL7	B3GALT6	MMP9	IFNGR1	FN1	SHOX	NANS	POP1	MEG3	CANT1	ERCC8	TRPV4	INTU	IFT140	SLC26A2	NSD2	WNT3	DLK1	INPPL1	RSPRY1	TONSL	PEX5	SLC39A13	TRAF3IP1	CHST3	CCDC8	TBX15	OBSL1	EXOC6B	FGFR3	POC1A	CHD4	CPLX1	RAD21	CTC1	IHH	TMEM67	MTX2	DDRGK1	CFAP410	LETM1	AIFM1	RSPO2	PRG4	CCN6	ABCC9	RTL1	RUNX2	LBR	COMP	PORCN	SMARCAL1	NSDHL	TRAPPC2	PIGG	ERCC6	PIK3C2A	COL11A2	CEP120	NELFA	CTBP1	XYLT1	BMPR1B
HP_APLASIA_HYPOPLASIA_OF_THE_PUBIC_BONE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_PUBIC_BONE	COL11A2	ABCC9	COL2A1	OBSL1	INPPL1	CPLX1	KAT6B	HSPG2	MATN3	SETBP1	INTU	NELFA	WNT7A	CTBP1	PIGG	LETM1	CUL7	CCDC8	NSD2	TBX15
HP_ABNORMAL_OSSIFICATION_OF_THE_PUBIC_BONE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_OSSIFICATION_OF_THE_PUBIC_BONE	GJB2	COL2A1	NKX3-2	RUNX2	SIK3	FIG4	FGFR2	GJB6	GSC
HP_ABNORMAL_PELVIS_BONE_OSSIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PELVIS_BONE_OSSIFICATION	COL2A1	IFT80	LBR	DYNC2H1	LEMD3	NKX3-2	DYNC2I1	SIK3	FIG4	GSC	GJB2	DYNC2I2	RUNX2	WDR35	FGFR2	GJB6
HP_ABNORMAL_OSSIFICATION_INVOLVING_THE_FEMORAL_HEAD_AND_NECK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_OSSIFICATION_INVOLVING_THE_FEMORAL_HEAD_AND_NECK	CSPP1	TPO	LHX3	POU1F1	ARSL	HESX1	COMP	UFSP2	IYD	TSHB	B3GALT6	RNU4ATAC	LHX4	DUOX2	PROP1	COL2A1	TG	MATN3	SLC5A5	DYM	FLNB	KIAA0586	DUOXA2	SLC26A2	TSHR
HP_APLASIA_HYPOPLASIA_INVOLVING_THE_FEMORAL_HEAD_AND_NECK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_FEMORAL_HEAD_AND_NECK	IDUA	SLC10A7	MTX2	COL2A1	DDRGK1	CFAP410	B3GALT6	MMP9	AIFM1	IFNGR1	FN1	PRG4	CCN6	SHOX	NANS	POP1	MEG3	CANT1	TRPV4	RTL1	IFT140	SLC26A2	RUNX2	LBR	COMP	DLK1	RSPRY1	TONSL	SLC39A13	PEX5	TRAPPC2	TRAF3IP1	CHST3	PIK3C2A	MATN3	EXOC6B	FGFR3	POC1A	CHD4	RAD21	CTC1	IHH	TMEM67	XYLT1	BMPR1B
HP_DIAPHRAGMATIC_EVENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIAPHRAGMATIC_EVENTRATION	GNB2	IGHMBP2	PLOD3	ALDH1A2	ASNS	REEP1	WT1	CHRNG	TRIP4	STRA6	DNAJC19	MYOD1	LRP2	ARID2	MEGF8	MTM1	ZNF699	MEGF10
HP_DIAPHRAGMATIC_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIAPHRAGMATIC_WEAKNESS	CHRNA1	TTN	IGHMBP2	TRPV4	REEP1	COL6A2	BAG3	SLC52A3	GAA	COL12A1	TPI1	COL6A3	MEGF10	PMP22	MORC2	COL6A1
HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SKELETON	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SKELETON	MGP	GABRA3	ARSB	COL2A1	VPS37D	MECOM	LRP4	GDF5	RARB	IFT43	HOXD13	CPLANE1	RPGRIP1	LBR	OTX2	KYNU	ZNF699	KCNJ6	SMARCB1	RNU4ATAC	NDUFB11	PTPN11	PRKAR1A	FZD2	CDT1	MEGF8	PEX14	TRPV4	FBXW11	SHH	SEC24D	GP1BB	ADA2	SLC39A8	DYNC2H1	KCNN3	TPM2	ZIC3	TAPT1	CHSY1	MECP2	TRAF3IP1	TGFBR2	COL6A1	CCDC8	IDH1	STAMBP	RINT1	HNRNPR	UBA1	ARID1B	ZNF407	RPS29	TP63	NRCAM	POLR3A	CDC6	LZTR1	TOPORS	SP7	SATB2	BRCA2	ERCC5	DHODH	DVL1	SMCHD1	HSD17B4	NOTCH1	FGF9	RPL35A	TRPS1	CHN1	CFAP410	PIGN	PSMD12	FGFR3	MAP3K20	KIDINS220	RPL26	PRG4	MAFB	GNAS	APC	MYL2	BPNT2	PTH1R	C12orf57	FKBP6	FLII	VPS33B	NCAPG2	ATAD3A	KMT2A	HSPG2	KDM5C	PEX3	COG1	DYM	CHD7	RAI1	WAC	NEK9	IRF6	SMC1A	LTBP3	RECQL4	ARX	PIK3R1	ASNS	AEBP1	EBP	ZNF335	TRRAP	SCYL2	P4HB	WNT10B	FBN1	GNAS-AS1	PCGF2	FLNB	MYCN	CAMTA1	NGLY1	CUL4B	ERMARD	EZH2	KDM6A	GABRD	STXBP1	PTDSS1	B9D1	EDA2R	LAS1L	SHOX	SLC25A24	GALNT2	NBN	IGF1R	HDAC4	MEIS2	TCTN3	GSC	TCOF1	FUCA1	KMT2D	TCF4	UBE3B	EFTUD2	ACTB	SLC25A1	WNT5A	RSPO2	ALX3	KIAA0586	TGDS	GPC3	XRCC4	CDKL5	CCDC32	PAH	HESX1	SELENON	TBX1	EMG1	CTU2	PLXND1	CANT1	RFWD3	POLR1B	TCIRG1	ASXL1	MBTPS2	CCDC22	DVL3	BMPR1B	DOK7	WASF1	NOTCH2	EP300	PHF6	FLI1	VANGL1	EIF4H	IGF1	IFT140	MCTP2	SOX6	TMEM53	LZTFL1	DYRK1A	NXN	ITGA7	PIGO	SOX11	SNRPN	HYMAI	IGF2	KCNH1	SRCAP	COMP	MASP1	MAGEL2	TRIP11	MMP13	FGFR2	DYNC2I1	PEPD	VANGL2	B3GALT6	FDFT1	TRIO	PHIP	CNOT3	ESCO2	IKBKG	PRKACB	VPS35L	PPM1D	GRIP1	NEK1	HBA1	ACP5	NF1	MKRN3	FGFR1	COL9A2	HMGA2	GLI3	MYMK	ZMPSTE24	MAP3K7	MEG3	GPKOW	CTBP1	AMMECR1	RRAS2	METTL27	CNTNAP1	SATB1	INPPL1	TONSL	SMOC1	COL1A2	GJB2	CCDC47	WDR62	H4C3	SLC25A22	BUB1B	TMEM231	TNFRSF11A	GNAO1	CPLX1	PEX1	FOXC2	SLC5A7	BHLHA9	LEMD2	SIX2	BICD2	TBC1D20	LMBR1	FAT4	FLNA	PAICS	SLC6A17	TRAIP	IFT81	NCF1	MYSM1	TBCE	SUZ12	NUP88	RAB3GAP2	PPP1R15B	COL11A1	RERE	PIGV	NKX2-6	TMEM216	SMAD4	ARCN1	BRIP1	WDR19	KDM1A	KAT6B	TMCO1	PEX13	KRAS	NECTIN1	MUSK	HDAC8	IFT172	KIF7	GPC6	FANCI	BRAT1	SUFU	SMG8	TOE1	BPTF	HERC2	PHGDH	THOC6	MAPK1	CEP55	CEP120	PQBP1	ALG6	CENPE	ASAH1	SKI	ROR2	SLC26A2	PIK3CA	ERCC3	SH2B1	GATA4	SCN1B	ATRX	NUP133	NEB	PLAGL1	TBX6	VPS53	FAM20C	PEX11B	SLC18A3	MYH3	PRMT7	HIRA	RPS19	EIF4A3	SALL4	CACNA1C	HDAC6	SETD5	NUP85	RAD51C	TWIST1	CEP152	RAG2	ARVCF	NSMCE2	ALX1	KCNJ8	FANCF	HOXA13	GLI1	CARS1	NFIX	NUP107	PITX1	CRLF1	CTC1	SMO	CERT1	KLHL41	PEX2	TNNI2	DPM1	BANF1	COL10A1	PTHLH	MAP2K1	CDKN1C	SH3PXD2B	SEMA5A	RAB3GAP1	PPP1R12A	RNF113A	MSX2	KATNB1	LIFR	TPM3	UBE2A	FANCM	ZBTB18	OCA2	NOG	UBE4B	FERMT1	PIGW	PIGA	RPS17	CASK	ANK1	NPR2	NAA10	DPF2	DPAGT1	COL1A1	COL3A1	USP9X	RNF2	EMC1	GALNS	B3GAT3	FANCE	GAD1	EFNB1	FAM149B1	CHST14	FGF3	BBS1	SLC25A19	SC5D	CTSK	FANCB	NSD2	HTT	ARSL	DEAF1	IFNGR1	CASZ1	KIAA0753	ADGRG6	IPO8	WIPI2	ORC1	WASHC5	EXTL3	RPS24	COL11A2	SPECC1L	GLB1	RPS27	ATP6V0A2	LONP1	TBL1XR1	MMP2	ALOX12B	EXT1	GJA1	RREB1	PLK4	TTC21B	BMP2	HMX1	TAF1	RIT1	DIS3L2	SLC29A3	ALG12	KBTBD13	DYNC2I2	ASXL2	MTX2	MYH7	PLCB3	CHRNG	LOXL3	CEP290	AP1G1	YY1	NALCN	PRDM16	KNSTRN	C2CD3	PCNT	KAT6A	PTCH1	WRN	PRKG2	FANCA	ATR	SMARCD1	MYPN	EVC	PDE4D	DNA2	SLC37A4	ZC4H2	PTEN	KLHL15	MID1	LMNA	NSDHL	DLX6	PHYH	SOX9	KDM4B	EXT2	COL13A1	PWRN1	PRUNE1	RTTN	GPX4	CDC45	ACAN	EVC2	PWAR1	GMNN	CLPB	ATP7A	OSGEP	OFD1	CDCA7	CNOT2	COL9A3	CSGALNACT1	PDE3A	RAC1	DNMT3A	CHAT	ARHGAP31	P3H1	PEX5	SLC35C1	PIGY	ERCC6	CCL2	EDN1	PIGT	MMP23B	POLR1A	BLM	PAX1	AFF4	ELN	ERCC1	ANKRD11	SF3B4	FTSJ1	CLCF1	POLA1	FUZ	PSAT1	IFT57	ERCC4	NFASC	HBA2	SIL1	RBBP8	OCRL	CLCN7	MBD5	SMARCA2	BRF1	EDA	AUTS2	PUF60	ATP6V1B2	LARGE1	CILK1	RPS7	CCNQ	ANTXR1	RSPRY1	POLE	ANKLE2	EIF5A	ADAT3	SPART	CLCN3	AFF3	MYMX	POP1	CBL	RNU12	TNRC6B	TMEM107	SPEN	TRIP4	RAB18	WNT3	ABCA12	COX7B	HPGD	TBX3	SEM1	TBX5	OCLN	H4C9	WDR35	FGF16	EXOC6B	CEP57	RPL15	IHH	IL2RG	RPL11	FBN2	ECEL1	ALPL	CTDP1	MRPS28	MAB21L2	SEC31A	TMEM70	NOTCH3	VPS13B	BGN	GABBR2	TTN	BTRC	LETM1	DHCR7	FBXO11	PSMB8	MPLKIP	TBCD	DLK1	LUZP1	PIK3CD	TXNL4A	COG8	RPS10	EFEMP2	NHS	GATA1	TRIM37	POMT1	TUBB3	GTF2I	TAB2	PLA2G6	GHR	PROP1	PCYT1A	CCBE1	PLAA	PIK3C2A	ZMYM2	NKX3-2	PI4KA	MYO9A	HHAT	XYLT1	CENPJ	CSNK2A1	B2M	KPTN	PTCH2	ALMS1	ZNF292	ADGRG1	CDC42BPB	PLCB4	COL12A1	TNNT3	GNPAT	BCR	ERCC2	SNIP1	LIG4	RAB23	TELO2	PLAG1	ANAPC7	LMX1B	UPF3B	RAC3	SUCLG1	MADD	TARS1	SOX2	IFT52	MAN2C1	CHST3	PDHA1	ALG14	SPRED2	FN1	RFT1	PDGFRB	USP7	PIEZO2	HNRNPH2	IRX5	ARL6IP6	ADAMTS10	GJB6	PKDCC	ARID2	DYNC2LI1	MCM5	SON	PALB2	OBSL1	B3GLCT	COG7	GTF2IRD2	LIMK1	MSL3	LMOD3	PIGL	CRIPT	SIM1	RTL1	GRIN1	TMEM270	KCNK9	WLS	CHRNA1	SIN3A	TSEN54	IDH2	HEPHL1	TRAPPC2	GBA1	RBM8A	NODAL	PRKACA	WT1	POU1F1	YARS1	ZBTB20	GPC4	LTBP4	HYLS1	B9D2	PURA	BMP4	LMNB2	RMRP	GNPTAB	CAMK2A	SPATA5L1	TSR2	SFRP4	WDR26	MYH8	RPS28	B4GALT7	DOCK6	SPOP	CFL2	RBM10	UNC80	FANCC	HOXB1	TMEM67	KCNJ2	DSE	TUBA1A	TWIST2	CREBBP	DDRGK1	RPS6KA3	COL6A2	TRIP13	PIEZO1	GLE1	DPH1	DNAI1	ERGIC1	FGF10	RIN2	STAG2	SPEG	PIGQ	SCUBE3	MKS1	RUNX2	DPH5	CSPP1	ARID1A	LHX3	MAD2L2	SLC39A13	PRDM13	MINPP1	COL9A1	USB1	DHCR24	DLX5	ERBB3	NDN	SIK1	ALOXE3	SRY	STAC3	DPM2	RAD21	GNA11	SNORD115-1	PIGB	FOXF1	SRPX2	LAGE3	SPRTN	POLR1C	ADNP	NBAS	RIPK4	UBR7	FBXW4	GRM7	ABCC9	POLR1D	INTU	SALL1	GRB10	RBPJ	ZBTB24	RB1	RAG1	KIF22	COL5A1	MAPK8IP3	TRMT10A	VAC14	DSTYK	BAZ1B	RPS15A	CCDC28B	ZNF341	IFT122	ZMIZ1	SEC24C	WDR73	KNL1	PEX16	NDE1	FKTN	MAPRE2	PAK2	PUS1	GJA8	PSPH	PAM16	LRRC32	IFT80	SYT2	MATN3	FLCN	SLC35D1	PKHD1	ACVR1	BUB1	AMER1	RPGRIP1L	BRD4	KCNK4	MMP9	TBXT	EDNRA	PEX7	NSD1	KCNJ5	NANS	TCTN2	BCOR	SSR4	HYOU1	ATPAF2	STAG1	DYNLT2B	ORC6	TGFB1	PHF21A	CDK5	POLD1	FGFRL1	HCCS	SPRED1	WDR81	OSTM1	AHDC1	MRAS	BCL11B	CHD4	FANCL	GTF2H5	JAG1	WNT7A	DLL4	PEX6	BCL7B	TPRKB	PEX19	CRKL	EOGT	TRPV6	EN1	TBX22	ALX4	MYBPC1	PPIB	PORCN	PRRX1	CHUK	PAX7	TUBB	BMPER	PIGG	DONSON	ALG13	SMARCC2	CRTAP	MSTO1	BICRA	CHD5	RPL18	STRA6	XRCC2	RPL31	HEATR3	C1S	NIN	TBC1D24	SLC10A7	NSUN2	STX16	EPS15L1	POMGNT1	ANTXR2	BMPR1A	GNAI3	TFAP2B	PRKCZ	SETBP1	PEX12	CAMK2G	POMT2	SOX4	MYO18B	AGPS	H3-3A	POR	FOCAD	RPL10	RDH11	FGD1	KIF14	DCHS1	BUD23	SNAP25	PGAP2	PYROXD1	RAF1	MET	TBX4	RELN	RPS20	MIA3	CWC27	GJA5	UBE2T	SIX6	LMBRD2	HINT1	LEMD3	ACTG2	PPP2R3C	SERPINH1	ALG9	TBX15	DDR2	NEUROD2	ORC4	JMJD1C	PUM1	FANCG	RAPSN	ANAPC1	PEX26	CC2D2A	SNRPB	D2HGDH	TBCK	AKT1	IARS2	ABCD4	FBXL4	CUL7	HAAO	HNRNPU	SIX1	ACTA1	PPP3CA	B4GAT1	FBXO28	SMARCE1	DPYD	FBXL3	FLVCR2	DZIP1L	MNX1	SMARCA4	MED12	CREB3L1	RRAS	SCN2A	DNMT3B	CD96	LAMA5	TCTN1	YARS2	SLC35A3	ZDHHC9	MLXIPL	TXNDC15	PIGF	DMXL2	ASXL3	HRAS	IGFALS	GTF2E2	RPL5	ADAMTS2	PDPN	INPP5K	COL6A3	CHST11	GATAD2B	TNFRSF11B	CLIP2	HACD1	COASY	FIG4	PDE6D	IDUA	SVBP	BUB3	NRAS	ADA	GNB2	MIR140	BDNF	FKBP10	BRCA1	TASP1	CDK10	SCARF2	CENPF	REV3L	HELLS	COMT	ALDH18A1	KIFBP	FUT8	ATRIP	NTNG1	CCN6	IQSEC2	HUWE1	COL25A1	COG4	RLIM	GGCX	PIGP	BRAF	GUSB	POGZ	SOS1	VARS1	SHANK3	DACT1	TGFBR1	FMR1	ACTL6B	CTNND2	MYOD1	RPS26	FANCD2	IL7R	SLCO2A1	RHOBTB2	ATP6AP2	SIK3	MIR17HG	PSMC1	LTBP2	GTF2IRD1	TENT5A	PAPSS2	GNS	POC1A	SUMF1	FAM50A	ACTG1	CHRND	LFNG	CPE	GLUL	SLC2A10	RPL27	TRIM8	MACROH2A1	VAMP1	AIFM1	SLX4	HES7	TMEM237	KIF5C	RFC2	LRP2	WDR4	TBL2	GEMIN4	PUS7	NEPRO	CDH11	BLTP1	YY1AP1	AGA	KCNAB2	ALDH1A2	TFAP2A	NELFA	EPG5	PRORP	ADAMTSL2	STX1A	KCNA1	DNAJC30	NPAP1	ASPH	NIPBL	DYNC1H1	LHX4	FKRP	MITF	SNORD116-1	SLC35A2	C1R	SOS2	ARL6	RAB33B	TOR1A	GDF11	SMC3	PEX10	EIF2AK3	PRIM1	SF3B2	KIF15	EED	DNAJC21	INTS1	RASA2	ZSWIM6	LGI4	MYF5	FRAS1	TP53RK	DCLRE1C	AGRN	ALG1	PGAP3	NEDD4L	MTOR	RPL35	EYA1	PGM1	PAX6	COX4I1	PIGS	CUL3	CLTCL1	RAD51	CA2	UFD1	PNKP
HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SINUSES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SINUSES	ALX3	FLNA	TRIM37	SFRP4	SMCHD1	PDE4D	ATRX	NOTCH2	AMER1	COL11A1	FUCA1	CTSK	SIX2	ALX1	AGA	RUNX2	DNAI1	PRKAR1A
HP_APLASIA_HYPOPLASIA_AFFECTING_BONES_OF_THE_AXIAL_SKELETON	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_AFFECTING_BONES_OF_THE_AXIAL_SKELETON	GABRA3	ARSB	VPS37D	LRP4	YARS1	RARB	IFT43	CPLANE1	FUZ	RPGRIP1	LMNA	GPC4	LBR	OTX2	KYNU	LTBP4	ZNF699	HYLS1	B9D2	EP300	PURA	PIGY	KCNJ6	BMP4	RNU4ATAC	NDUFB11	PTPN11	SALL4	GNPTAB	PRKAR1A	FZD2	CDT1	SPATA5L1	PEX14	TRPV4	NSD2	SLC26A2	TSR2	SFRP4	ZMPSTE24	FBXW11	SEC24D	TCTN3	GP1BB	ADA2	WDR26	MYH8	DYNC2H1	TPM2	LETM1	ZIC3	TAPT1	RPS28	MECP2	TGFBR2	B4GALT7	COL6A1	DYRK1A	SPOP	CFL2	PCNT	SKI	RBM10	UNC80	RINT1	HNRNPR	TAF1	UBA1	HOXB1	KCNJ2	PALB2	ZBTB18	DSE	TUBA1A	FGFR3	RPS29	CREBBP	NRCAM	POLR3A	CDC6	LZTR1	TOPORS	TNNI2	SP7	SATB2	BRCA2	ERCC5	DDRGK1	DHODH	DVL1	SMCHD1	HSD17B4	RPL35A	COL6A2	TRPS1	TRIP13	CHN1	PIGN	PIEZO1	PSMD12	GLE1	DPH1	KAT6B	DNAI1	KIDINS220	ERGIC1	MAFB	COL1A1	FGF10	RIN2	STAG2	SPEG	SCUBE3	MKS1	APC	MYL2	BPNT2	LONP1	PTH1R	C12orf57	IGF1	FKBP6	DYM	FLII	VPS33B	NCAPG2	ATAD3A	RUNX2	KMT2A	DPH5	HSPG2	KDM5C	CSPP1	PEX3	COG1	COL2A1	PQBP1	TRIO	MAD2L2	CHD7	RAI1	NEK9	IRF6	PRDM13	RECQL4	ARX	COL11A2	MINPP1	PIK3R1	ASNS	BRIP1	AEBP1	EBP	ZNF335	USB1	DHCR24	SPEN	TRRAP	SCYL2	ERBB3	P4HB	B3GALT6	PTEN	SRY	STAC3	DPM2	RAD21	GNA11	PCGF2	FLNB	MYCN	PIGB	CAMTA1	FOXF1	SRPX2	ERMARD	EZH2	LAGE3	SPRTN	GABRD	PTDSS1	POLR1C	LAS1L	SHOX	RPL26	RIPK4	NBN	IGF1R	POLR1D	GSC	TCOF1	FUCA1	INTU	KMT2D	ATP6V1B2	SELENON	UBE3B	EFTUD2	NOTCH3	ACTB	SLC25A1	FLNA	GRB10	WNT5A	RSPO2	ZBTB24	ALX3	KIAA0586	MEG3	TGDS	RB1	XRCC4	CCDC32	WNT3	PAH	ANTXR1	TBCE	TBX1	COL5A1	EMG1	WDR35	CTU2	PLXND1	VPS13B	MAPK8IP3	CTSK	TRMT10A	POLR1B	COG7	TCIRG1	VAC14	DSTYK	ASXL1	BAZ1B	RPS15A	ZNF341	CCDC22	DVL3	DOK7	ZMIZ1	SEC24C	NOTCH2	WDR73	KNL1	CASK	FLI1	PEX16	VANGL1	EIF4H	EDN1	NDE1	GLB1	FKTN	SMC1A	MCTP2	SOX6	MAPRE2	PAK2	PUS1	NXN	ITGA7	GJA8	PIGO	PSPH	PAM16	LRRC32	HYMAI	IGF2	SRCAP	COMP	TRIP11	SOX9	FGFR2	DYNC2I1	SYT2	FLCN	SLC35D1	PEPD	VANGL2	PKHD1	FDFT1	ACVR1	BUB1	AMER1	FANCC	PHIP	ATP7A	RPGRIP1L	VPS35L	BRD4	GRIP1	ERCC6	NEK1	HBA1	KCNK4	NF1	TBXT	EDNRA	NSD1	HMGA2	KCNJ5	COL11A1	RAB18	MYMK	TCTN2	GPKOW	CTBP1	SSR4	AMMECR1	GATA1	RRAS2	METTL27	HYOU1	ATPAF2	MBD5	STAG1	CNTNAP1	DYNLT2B	ORC6	INPPL1	PHF21A	CDK5	POLD1	FGFRL1	IPO8	COL1A2	NEB	HCCS	WDR62	SPRED1	BUB1B	TMEM231	COL9A1	PI4KA	TNFRSF11A	RTL1	OSTM1	AHDC1	MRAS	BCL11B	IFT80	CHD4	CPLX1	PEX1	FOXC2	SLC5A7	FANCL	LEMD2	GTF2H5	WNT7A	SIX2	BICD2	TBC1D20	FAT4	PAICS	PEX6	BCL7B	TPRKB	TRAIP	IFT81	ERCC2	PEX19	NCF1	SLC25A19	FAM20C	PEX7	SUZ12	NUP88	RAB3GAP2	PPP1R15B	BCOR	RERE	TRPV6	ALX4	TMEM216	MYBPC1	ARCN1	TMCO1	PEX13	PORCN	PRRX1	KRAS	NECTIN1	MUSK	HDAC8	FBN1	IFT172	PAX7	KIF7	GPC6	FANCI	BRAT1	SUFU	TUBB	BMPER	PIGG	SMG8	ALG13	B9D1	DOCK6	TOE1	BPTF	MSTO1	GMNN	PHGDH	THOC6	BICRA	CHD5	CEP55	RPL18	STRA6	XRCC2	CENPE	RPL31	HEATR3	ROR2	C1S	KLHL41	PIK3CA	TBC1D24	ERCC3	SLC10A7	NSUN2	SH2B1	GATA4	ATRX	NUP133	PLAA	PLAGL1	TBX6	SNRPN	POMGNT1	OSGEP	VPS53	BMPR1A	PEX11B	SLC18A3	MYH3	GNAI3	HIRA	RPS19	EIF4A3	OFD1	PRKCZ	SETBP1	CACNA1C	PEX12	HDAC6	DNMT3A	SETD5	POMT2	KCNH1	MYO18B	NOG	NUP85	DLK1	H3-3A	CHSY1	POR	CEP152	WASHC5	ARVCF	TMEM107	FOCAD	PUF60	SF3B4	NSMCE2	RPL10	RDH11	ORC1	ALX1	KIF14	FANCF	DCHS1	CARS1	BUD23	NFIX	NUP107	CRLF1	SNAP25	SMO	PGAP2	PYROXD1	SLC25A24	PEX2	RAF1	RELN	DPM1	BANF1	MAP2K1	RPS20	CDKN1C	SH3PXD2B	SEMA5A	RAB3GAP1	PPP1R12A	RNF113A	MSX2	CWC27	KATNB1	GJA5	SIX6	CHST14	LIFR	TPM3	LMBRD2	FANCM	UBE4B	PIGW	PLK4	LEMD3	PIGA	RPS17	ERCC1	ACTG2	ANK1	SERPINH1	NAA10	ALG9	GPC3	DPAGT1	TBX15	COL3A1	DDR2	EMC1	ORC4	JMJD1C	GALNS	B3GAT3	FANCE	GAD1	FANCG	RAPSN	EFNB1	FAM149B1	FGF3	PEX26	CC2D2A	SNRPB	D2HGDH	TBCK	SC5D	AKT1	CHRNG	IARS2	FANCB	IFT122	ABCD4	CUL7	HAAO	ARSL	NSDHL	UBE2T	DEAF1	HNRNPU	SIX1	CASZ1	KIAA0753	ADGRG6	ACTA1	PPP3CA	B4GAT1	CANT1	FBXO28	EXTL3	RPS24	FBXL3	HOXD13	IFT140	FLVCR2	DZIP1L	SPECC1L	DHCR7	MNX1	RPS27	GLI3	ATP6V0A2	TWIST2	LIG4	MMP2	EXT1	MED12	RREB1	NALCN	CREB3L1	KAT6A	RRAS	BMP2	HMX1	DNMT3B	RIT1	CD96	LAMA5	DIS3L2	TCTN1	SLC29A3	YARS2	CHUK	MTX2	ALG12	KBTBD13	SLC35A3	ZDHHC9	GJA1	MLXIPL	MYH7	PLCB3	TXNDC15	LOXL3	PIEZO2	CEP290	YY1	PRDM16	PIGF	C2CD3	RAD51C	ASXL3	HRAS	TBX4	IGFALS	GTF2E2	PTCH1	RPL5	ADAMTS2	PDPN	FANCA	ATR	COL6A3	MYPN	GATAD2B	PDE4D	DNA2	CLIP2	HACD1	COASY	EVC2	SLC37A4	FIG4	ZC4H2	CEP120	RFWD3	MID1	PDE6D	IDUA	TBX5	BUB3	KDM4B	CSGALNACT1	CENPJ	EXT2	COL13A1	PRUNE1	NRAS	RTTN	GNB2	GPX4	BDNF	CLPB	CHRNA1	CDCA7	CNOT2	BRCA1	TASP1	TMEM67	KCNK9	TNNT3	CHAT	DONSON	SCARF2	CENPF	REV3L	PEX5	CCL2	B3GLCT	HELLS	FGFR1	MMP23B	POLR1A	BLM	COMT	COL9A2	PAX1	AFF4	ELN	ANKRD11	CLCF1	PSAT1	KDM6A	ATRIP	PIGT	XYLT1	IQSEC2	HUWE1	ERCC4	MAP3K7	NFASC	COL25A1	COG4	HBA2	RBBP8	RLIM	OCRL	BRAF	GUSB	AUTS2	KCNN3	LARGE1	CILK1	POGZ	RPS7	SOS1	VARS1	SHANK3	ANKLE2	TGFBR1	EIF5A	ADAT3	MAP3K20	CLCN3	AFF3	MYMX	CTNND2	MYOD1	FN1	EXOC6B	RPS26	FGD1	CBL	RNU12	TNRC6B	RHOBTB2	ATP6AP2	TRIP4	PIGV	ARID1B	COX7B	PSMC1	TBX3	GTF2IRD1	OCLN	H4C9	TENT5A	GNS	CEP57	RMRP	POC1A	SUMF1	RPL15	IHH	RPL11	FBN2	MAPK1	ACTG1	ECEL1	PIGQ	CHRND	LFNG	ALPL	CPE	CTDP1	SEC31A	SLC2A10	TMEM70	RPL27	BGN	TTN	VAMP1	COL12A1	AIFM1	PSMB8	MPLKIP	BRF1	SLX4	LMX1B	HES7	TBCD	LUZP1	TMEM237	TXNL4A	RFC2	COG8	FANCD2	RPS10	LRP2	EFEMP2	WDR4	TBL2	GEMIN4	TRIM37	POMT1	COL9A3	PUS7	BLTP1	TUBB3	GTF2I	TAB2	PLA2G6	DYNC2I2	GHR	TRAPPC2	AGA	KCNAB2	ALDH1A2	NKX3-2	TFAP2A	NELFA	MYO9A	EPG5	EVC	PRORP	STX1A	CSNK2A1	DNAJC30	KPTN	PTCH2	ESCO2	ZNF292	ADGRG1	CDC42BPB	PLCB4	GNPAT	NIPBL	POLE	FKRP	DPYD	MITF	RAB23	TELO2	PLAG1	ANAPC7	C1R	UPF3B	RAC3	RBM8A	SOS2	MADD	TARS1	SOX2	MAN2C1	ADAMTSL2	RAB33B	CHST3	TOR1A	GDF11	SMC3	ALG14	SPRED2	RFT1	PEX10	EIF2AK3	PRIM1	PDGFRB	SF3B2	EED	DNAJC21	INTS1	RASA2	HNRNPH2	IRX5	TWIST1	TP63	ARL6IP6	SMOC1	LGI4	PKDCC	MYF5	FRAS1	DYNC2LI1	MCM5	TP53RK	AGRN	ALG1	GTF2IRD2	LIMK1	CDC45	PGAP3	LMOD3	PIGL	CRIPT	SIM1	NEDD4L	TMEM270	WLS	RPL35	SIN3A	EYA1	TSEN54	PGM1	PAX6	CLTCL1	RAD51	CA2	GBA1	NODAL	UFD1	ARID2	WT1
HP_MIXED_HYPO_AND_HYPERPIGMENTATION_OF_THE_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MIXED_HYPO_AND_HYPERPIGMENTATION_OF_THE_SKIN	KRT14	KRT5	PIGN	POFUT1	SASH1	PSENEN	SMS	LMNA	UBE2A	ADAR	PCNT	POGLUT1
HP_ABNORMAL_ADIPOSE_TISSUE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ADIPOSE_TISSUE_MORPHOLOGY	CHCHD10	CIDEC	TNNC1	TREM2	TYROBP	MT-TF	ACTC1	CAP2	ABCC9	SDHD	TMEM43	MC4R	FUZ	LMNA	TBXT	FBN1	FOS	DES	LMNB2	FHL2	RNASEH2C	ZMPSTE24	KCNJ6	APC	RNU7-1	EMD	RBM28	KRAS	HAVCR2	POMP	SYNE2	MSTO1	CDKN1B	TAF1A	ENPP1	FLCN	ATP6V1A	SEC23B	TP53	ACTN2	POMC	TGFB1	RASGRP1	POLD1	TWIST2	FHL1	COL1A2	VANGL1	ATP6V1E1	G6PC3	SPRED1	PMM2	PSMB9	SKI	PIK3R1	TAF1	ANKRD1	LEMD2	GTF2H5	CDKN2B	DPAGT1	MT-TK	RNASEH2B	FH	POLR3A	PLIN1	SOX18	VPS4A	MTX2	TOP3A	MYH6	SCN5A	MYSM1	USP8	ABCC6	RPL10	PSMB8	PPP1R15B	TMPO	MPLKIP	COL1A1	PLN	PPARG	ATP6V0A2	KIF11	DMD	MYPN	MT-RNR1	FASLG	GTF2E2	PORCN	TGFB3	COL3A1	ALG3	PIK3CA	MFN2	WRN	CDC73	MYBPC3	MT-TQ	LCK	ERCC6	MT-TL1	ERCC4	CDH23	TREX1	PHGDH	FGFR1	USP48	PSMG2	CAVIN1	MT-ND5	PTEN	CDKN2C	BAG3	GATAD1	ALB	TXNRD2	TPM1	GNA11	MT-TS2	MYH7	VDR	ERCC3	ALMS1	SDHB	SPRTN	FAS	RNASEH2A	BMPR1A	USF3	FKTN	GNB2	SGCD	BSCL2	TTN	IGF1R	ADAMTS2	SLC29A3	TNNI3	PDE8B	CAV1	H4C5	PRDM16	INSR	SLC2A2	DDOST	ERCC8	DSG2	ALG11	CLMP	DOLK	INPP5K	LIPE	ALG12	BAG5	B4GALT7	PRKAR1A	PDE11A	TARS1	MEFV	KCNK9	TNNT2	ADAMTSL2	BRAF	ALX3	ALX1	DSP	PRIM1	NR3C1	TCAP	PDGFRB	CCL2	NEXN	CARS1	CRYAB	AKT1	SDHA	LSM11	AP2S1	SYNE1	TRMT10A	SLC25A24	ZSWIM6	BLM	TAFAZZIN	BANF1	ACTB	AKT2	MEN1	PSEN2	LEMD3	ERCC2	MT-TH	LMF1	RNF113A	TBL1XR1	AGPAT2	ATRX	PRKACA	PRKCD	VCL	FLNA	CASP10	PSMB4	NAA10	PPCS	IFIH1	OTULIN	ADA2	DNASE2	LAMA4	SAMHD1	ADAR	CDKN1A	CSRP3	HAND2	MT-TP	ARMC5	PSEN1	RBM20	LDB3	PCSK1	GRM7	ALG9	VANGL2	KLLN	GNAS	PTF1A	RAF1	ALG8	IKBKG	SDHC	FUCA1
HP_LIPODYSTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIPODYSTROPHY	CIDEC	TNNC1	ACTC1	LMNA	CAP2	ABCC9	TMEM43	ATP6V1E1	SPRTN	PIK3CA	RNASEH2A	FBN1	FOS	DES	LMNB2	FKTN	SGCD	FHL2	RNASEH2C	ZMPSTE24	BSCL2	KCNJ6	TTN	IGF1R	SLC29A3	TNNI3	CAV1	RNU7-1	PRDM16	DDOST	DSG2	EMD	KRAS	CLMP	POMP	SYNE2	TAF1A	DOLK	LIPE	BAG5	ATP6V1A	B4GALT7	ACTN2	TNNT2	POLD1	TWIST2	FHL1	FGFR1	DSP	TCAP	PDGFRB	NEXN	PSMB9	CRYAB	PIK3R1	SDHA	LSM11	ANKRD1	PMM2	SYNE1	DPAGT1	RNASEH2B	TAFAZZIN	BANF1	ACTB	POLR3A	PLIN1	AKT2	RBM28	PSEN2	VPS4A	LMF1	MTX2	AGPAT2	MYH6	SCN5A	VCL	PSMB8	TMPO	FLNA	PSMB4	PLN	PPARG	ATP6V0A2	PPCS	IFIH1	OTULIN	DNASE2	DMD	SLC25A24	MYPN	LAMA4	SAMHD1	ADAR	CSRP3	HAND2	COL3A1	ALG3	WRN	MYBPC3	PSEN1	RBM20	LDB3	GRM7	ALG9	ALB	TREX1	RAF1	PSMG2	CAVIN1	BAG3	GATAD1	TXNRD2	TPM1	FUCA1	MYH7
HP_INCREASED_ADIPOSE_TISSUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_ADIPOSE_TISSUE	PCSK1	CHCHD10	POLR3A	MC4R	POMC	AKT2	LMNA	LIPE	INPP5K	MT-TK
HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_LIMBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MUSCULATURE_OF_THE_LIMBS	CHCHD10	TFG	FKRP	VCP	ADCY5	MTMR14	PI4KA	SPATA5	HSPB1	EEF1A2	POMT1	SIGMAR1	LRP12	MFN2	GABRA5	GBF1	CHRNA1	SPG11	NEFL	TPM2	RTN2	ALDH18A1	NIPA1	SGCG	DGUOK	IFIH1	FBXW11	VMA21	AAAS	SH3TC2	ADA2	FHL1	ASAH1	SORD	LIMS2	RPS28	NTRK2	BSCL2	DNAJC12	ATP7B	DYSF	CCDC8	SEPTIN9	OBSL1	CFL2	COMP	PMP22	SLC25A21	POLG	KCNJ2	GYG1	HK1	SGCD	TBCE	JAG2	MUSK	RPS29	POLR3A	REEP1	CACNA1A	KIF1A	RPL35A	CPT1C	WARS2	YWHAG	GALC	ERGIC1	LMNA	TSEN54	MYL2	GMPPB	BVES	PHKA1	KATNB1	GDAP1	UFSP2	LBR	ABHD5	DPH5	HSPG2	RNU7-1	POMGNT1	CCND1	KDM5C	DNMT3B	DMD	PRX	COL12A1	TRIO	DYM	TTN	DDHD2	SLC39A13	CYP7B1	CEP126	GNB1	SLC30A9	PRDM13	ASNS	BICD2	DYNC1H1	GABRA2	CRPPA	SRY	COA7	IGHMBP2	SMN1	DHX16	SLC25A4	SLC52A3	NGLY1	MYH7	SRPX2	DNAJC6	VAMP1	RPL26	SMARCB1	SCN3A	COX20	ANO5	ALG11	ABCD1	RRM2B	TSEN2	SGCB	FLI1	SLC25A1	KCNJ18	HSPB3	DAG1	COLQ	SPEG	SPAST	FLNC	SELENON	CAV3	PLXND1	ALS2	MT-TE	HCN1	DSTYK	ERCC8	BIN1	RPS15A	PDK3	VHL	DARS2	RYR1	TK2	SLC52A2	MPZ	UBAP1	MICU1	PIEZO2	SDHAF1	MYH2	MTRR	DNM1L	CPOX	FRMD4A	GCH1	ARSI	FGF13	CHRND	ATP6V1A	SLC13A5	ITGA7	TWNK	SDHD	PRR12	MRPS2	ARV1	SPART	HADHA	HINT1	POMGNT2	TRAPPC11	SYT2	MCM3AP	GRM7	FZR1	SYNJ1	COL6A1	GARS1	PNKP	SLC33A1	MATR3	SCN8A	FA2H	TMEM43	SACS	KIF5A	NECAP1	C19orf12	MYMK	CPLANE1	EGR2	EMD	SLC12A6	GATA1	ATP1A3	SGCA	SYNGAP1	AGRN	ANO10	NEFH	DHDDS	NEB	FBXO38	ADAR	RAB7A	OSTM1	MTPAP	DNA2	PAX1	FGF12	SLC5A7	SPTLC2	PDGFB	VPS37A	NF1	GPHN	KY	SLC25A19	ZFYVE27	TRIP4	SBF1	AP5Z1	PTPN11	PPP3CA	KIDINS220	PPARG	MYBPC1	KDM1A	CRYAB	TRPS1	TGFB3	POMT2	DNAJB6	TNPO3	GABRB2	RASA1	BRAT1	ATP1A2	TIA1	PIGN	RPL18	TARS2	RPL31	HNRNPA1	KLHL41	KCNA2	PLAA	RARS1	GAA	SCO2	ALG2	HSPD1	SPG21	SLC18A3	TERT	ZFYVE26	EIF4A3	SALL4	ATP1A1	SDHB	CHRNB1	SPG7	MAP3K20	RAD51C	AP3B2	YARS1	CIDEC	ALX1	SLC35C1	SECISBP2	RAI1	HOXA13	GNE	POU3F4	SNAP25	WWOX	PYROXD1	COL6A3	DPAGT1	PLP1	KCNB1	CLTC	ACTB	RPS20	CLDN11	GRIK2	GJB1	FAR1	POMK	LAMB2	TPM3	LIPE	EYA1	SCYL2	SDHA	HYCC1	TIMM8A	RPS17	DHPS	SQSTM1	CD59	TCAP	ALX3	CHRNE	EMC1	CYFIP2	RNASEH1	CAPN1	JAG1	ACTN2	KIF1B	LRIF1	LARGE1	UNC45B	SEPSECS	ATL1	STIM1	NDUFA9	PNPLA6	SMARCE1	CUL7	NCAPD3	DNM1	LRP4	FKTN	GAN	FLNA	CACNA2D1	CDK19	ACTA1	LDB3	EXTL3	PLOD1	RPS24	MORC2	ELOVL4	SYNE1	ASXL1	DDHD1	RPS27	ATP6V0A2	SMO	ATP13A2	KAT6A	ACTL6B	NDRG1	PNPLA2	PCCB	KBTBD13	GFM2	NDUFC2	KPNA3	ASXL2	WASHC5	TBX3	FGD4	FRG1	BAP1	LTBP4	SCYL1	COL6A2	ACOX1	CYP27A1	POLG2	PABPN1	CCNF	NF2	PRNP	CAPN3	HNRNPDL	RAF1	PHYH	PCCA	MYPN	MTTP	HACD1	USP8	EPHB4	LRSAM1	KANSL1	FBLN5	VWA1	KARS1	LAMA2	PAX3	MYH14	SVBP	TBX5	ATL3	CSGALNACT1	OPA1	SLC16A2	DES	MPV17	LYST	GNB2	AARS1	ALAD	TYMP	ERCC6	KLHL9	SPRED2	PIGA	CHAT	COG4	LIG3	REV3L	LPIN1	SMN2	ERLIN2	MTRFR	TSEN34	PSAP	RPS19	ATRX	INF2	SPTLC1	PPOX	TRAK1	KIFBP	SLC6A3	ADSS1	HMBS	POGLUT1	MYOT	TRAF7	MARS1	FLNB	MLIP	MAP3K7	ERCC1	COL25A1	HARS1	DHTKD1	BRAF	COL13A1	DNM2	GFAP	KCNA1	CELF2	COX6A1	DNAJB2	RPS7	AMPD3	SLC5A6	CLCN1	FXN	AFG3L2	MYMX	RPS26	RNF170	CACNA1B	DPM3	PLEC	MT-ATP6	MT-CO3	RHOBTB2	TRIM32	SYNE2	PMP2	SMG9	MME	PNPT1	TRPV4	CNKSR2	AMPD1	SPR	PODXL	SMCHD1	MINPP1	DKK1	NUP62	RPL15	VPS13A	AK9	RPL11	FBN2	HEXB	GBA2	SBF2	HSPB8	RPL27	SLC38A3	UBTF	BRF1	IDUA	LMX1B	AKT1	PRPS1	SZT2	DCTN1	DDC	MAPT	RPS10	PLIN1	NOTCH2NLC	DOK7	PARS2	AR	DMXL2	MYO9A	PRORP	RPL5	ADGRG1	CDC42BPB	GFPT1	PIK3CA	SLC39A14	IBA57	CAV1	H4C5	L1CAM	TSEN15	DALRD3	RBM8A	TSR2	PEX7	CACNA1S	GIPC1	POPDC3	GDF11	SCN4A	FGFR2	SMPX	ASH1L	MTAP	SARDH	GABRG2	TNR	LGI4	FBN1	PYCR2	MYF6	SUFU	CADM3	GRIN2D	PLOD3	WDR48	LMOD3	ANXA11	RAPSN	TDP1	BTD	ATP5MC3	HADHB	EMILIN1	FUZ	GABBR2	PIGP	RPL35	KCNJ10	PHKB	ALG14	UBA5	NUS1	EBP	SLC1A2	ORAI1	GMPPA	MT-CO1	MTHFR	GABRA3
HP_UPPER_LIMB_AMYOTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_LIMB_AMYOTROPHY	CHCHD10	SVBP	FXN	MPZ	ADSS1	GJB1	VCP	BSCL2	DYSF	ACTA1	KY	SLC52A3	NGLY1	MYH7	NEB	TIA1	NEFL	NOTCH2NLC	GARS1	KIF5A	CADM3	HINT1	MARS1	KANSL1	MORC2	GBF1	CHRNA1	IDUA	SPG11	PLOD3	CPLANE1	RYR1	TIMM8A	LMNA	LDB3	KLHL9	DCTN1	GDAP1	SLC12A6	HARS1	SQSTM1	TRPV4	MATR3	CAV3	FLNC	HSPB1	NEFH	FUZ	PDK3	HK1	SLC39A13	PRX	CYP7B1	GIPC1	ANO5	PMP22	CEP126	TFG	KAT6A	HSPB3	REEP1	JAG1	COMP	INF2	NDRG1	SLC25A21	ALS2	FBLN5	KIF1A	TNR	SLC5A6
HP_HAND_MUSCLE_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAND_MUSCLE_ATROPHY	CHCHD10	SVBP	FXN	MPZ	VCP	BSCL2	ACTA1	SLC52A3	NGLY1	NEB	TIA1	NEFL	GARS1	HINT1	MARS1	KANSL1	GBF1	CHRNA1	IDUA	SPG11	PLOD3	RYR1	TIMM8A	LMNA	LDB3	KLHL9	DCTN1	GDAP1	SLC12A6	HARS1	SQSTM1	MORC2	TRPV4	CAV3	FUZ	PDK3	SLC39A13	PRX	PMP22	DYSF	TFG	HSPB3	REEP1	JAG1	COMP	FLNC	SLC25A21	ALS2	KIF1A	SLC5A6
HP_DUPLICATION_INVOLVING_BONES_OF_THE_FEET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUPLICATION_INVOLVING_BONES_OF_THE_FEET	DYNC2H1	CSPP1	NEK1	KATNIP	MKKS	LETM1	CPLX1	WDR19	PLAA	CPLANE1	RERE	KIF7	RPGRIP1	SHH	LBR	DYNC2LI1	GABRD	PIK3CA	TXNDC15	TMEM216	CASZ1	DDX59	B9D2	KIAA0753	MEGF8	HIRA	TCTN2	RAB23	EVC2	KIAA0825	IFT172	TCTN3	EXTL3	TMEM107	GLI3	TFAP2B	PRKCZ	SPEN	CTBP1	TOGARAM1	AHI1	NSD2	SETD5	C2CD3	PIBF1	SKI	TBX1	DYNLT2B	ARMC9	OFD1	DHCR7	HSPG2	ARL6	TMEM67	BMP4	HOXD13	INPP5E	CIBAR1	GP1BB	FGFRL1	CBY1	ZNF423	ARVCF	SMOC1	ZNF141	WNT5A	MKS1	CEP120	TMEM231	RREB1	LMBR1	GLI1	TMEM237	TTC21B	PDE6D	PITX1	SMO	MMP23B	CEP104	CD96	RPGRIP1L	TCTN1	PRKACB	ZSWIM6	COMT	CCDC28B	CEP290	IFT74	DYNC2I2	ARL3	TOPORS	SEC24C	DVL1	DYNC2I1	GJA5	TMEM138	MAP3K20	UBE4B	HYLS1	TMEM218	PRDM16	LUZP1	IFT140	NPHP3	CC2D2A	PPP2R3C	LZTFL1	SCNM1	GJA8	ARL13B	BBS9	BBS2	PDPN	ABCA12	CEP41	FGFR2	JMJD1C	OTUD5	KCNAB2	EVC	B9D1	SUFU	FAM149B1	IFT80	BBS1	KIAA0586	PORCN	UFD1	SC5D	PRKACA	ROR2
HP_SYNOSTOSIS_INVOLVING_BONES_OF_THE_LOWER_LIMBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNOSTOSIS_INVOLVING_BONES_OF_THE_LOWER_LIMBS	BMPR1B	OFD1	MYH3	FLNA	HOXD13	CHSY1	NOG	MKKS	POR	GDF5	TNNT3	TPM2	FGFR1	MAP3K20	FBLN1	FLNB	NALCN	ATP7A	FGFR2	FGFR3	GLI3	GDF6	MAP3K7	BHLHA9	FGF9	TBX4	SLC26A2	SALL1	TNNI2	LMBR1	SMOC1
HP_OSTEOLYSIS_INVOLVING_BONES_OF_THE_LOWER_LIMBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOLYSIS_INVOLVING_BONES_OF_THE_LOWER_LIMBS	MAFB	RETREG1	ZMPSTE24	ASAH1	WNK1	SCN9A	KIF1A	MMP2	COL3A1	FLNA	MMP14	LMNA	NOTCH2	MTX2
HP_DEPLETION_OF_MITOCHONDRIAL_DNA_IN_MUSCLE_TISSUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEPLETION_OF_MITOCHONDRIAL_DNA_IN_MUSCLE_TISSUE	TWNK	POLG	TK2	SLC25A4	LIG3	MGME1	SLC25A10	TOP3A	RRM2B	POLG2	SUCLG1
HP_SUPERNUMERARY_BONES_OF_THE_AXIAL_SKELETON	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPERNUMERARY_BONES_OF_THE_AXIAL_SKELETON	RBM8A	PTCH2	MTX2	RPS26	IKBKG	GATA6	SOX2	SON	PUF60	SIX6	IFT57	AFF3	SUFU	GDF11	GPC4	NIPBL	ANKRD11	SF3B2	SKI	PAX3	TBX6	ANK1	MAF	GPC3	RUNX2	DHODH	PTCH1	ACTB
HP_ABNORMAL_CEREBRAL_ARTERY_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CEREBRAL_ARTERY_MORPHOLOGY	GANAB	TGFB3	DNAJB11	SMAD3	SLC20A2	LOX	ABCG5	SPTBN1	NDE1	GAA	FOXE3	LDLRAP1	COL5A2	BGN	PKD2	COL4A1	STAT1	RNASEH2A	MYLK	ABCG8	PDGFB	ACTA2	TGFBR1	IPO8	RNASEH2C	PRKAR1A	PLOD3	RNU7-1	IFIH1	COL3A1	MYH11	MFAP5	TGFB2	THSD1	TGFBR3	LDLR	ANGPTL6	NF1	SAMHD1	ADAR	BRCC3	GUCY1A1	PCNT	SMAD2	TOM1	HEY2	PDGFRB	FARSB	PRKG1	BICC1	GGCX	MAT2A	HTRA1	TONSL	SMARCAL1	APP	PDE11A	FBN1	APOB	TGFBR2	ENG	COL1A1	IFT140	RNF213	NFIA	TREX1	COL5A1	PKD1	LSM11	ALG9	PCSK9	ELN	SMAD4	ALG5	RNASEH2B
HP_ABNORMALITY_OF_THE_PROXIMAL_PHALANX_OF_THE_5TH_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PROXIMAL_PHALANX_OF_THE_5TH_FINGER	KIF15	BHLHA9	GDF5	ROR2	NOG
HP_ABNORMAL_CALCIFICATION_OF_THE_CARPAL_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CALCIFICATION_OF_THE_CARPAL_BONES	DDR2	EBP	SLC34A2	LEMD3	ABCC6	ENPP1
HP_JOINT_CONTRACTURE_OF_THE_5TH_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_CONTRACTURE_OF_THE_5TH_FINGER	FBXW11	HOXD13	CTCF	KDM5B	PYROXD1	LIFR	PITX1	ZDHHC9	PIGL	KMT2B	ARPC4	TMEM218	SLC29A3	AUTS2	GJA1
HP_CONTRACTURE_OF_THE_PROXIMAL_INTERPHALANGEAL_JOINT_OF_THE_5TH_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONTRACTURE_OF_THE_PROXIMAL_INTERPHALANGEAL_JOINT_OF_THE_5TH_FINGER	LIFR	PIGL	ARPC4	HOXD13	KDM5B
HP_PSEUDOEPIPHYSES_OF_THE_METACARPALS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSEUDOEPIPHYSES_OF_THE_METACARPALS	CTBP1	NPR3	NSD2	LETM1	CPLX1	SALL1	PCNT	FGFRL1	RPS6KA3
HP_APLASIA_HYPOPLASIA_OF_THE_4TH_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_4TH_FINGER	COL2A1	GDF5	MECOM	TBX3	NOG
HP_DEVIATION_OF_THE_4TH_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVIATION_OF_THE_4TH_FINGER	KCNJ11	SNRPN	KNSTRN	NARS2	PIK3CD	IHH	ABCC8	COL11A1
HP_JOINT_CONTRACTURE_OF_THE_4TH_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_CONTRACTURE_OF_THE_4TH_FINGER	TLK2	SIN3A	ASXL3	FBXW11	TBX2	KDM5B
HP_ABNORMAL_3RD_FINGER_PHALANX_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_3RD_FINGER_PHALANX_MORPHOLOGY	NSDHL	COL2A1	TWIST1	CHSY1	GDF5	GNAS	FGFR2
HP_DEVIATION_OF_THE_3RD_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVIATION_OF_THE_3RD_FINGER	PKDCC	RTL1	DLK1	PTRH2	GDF5	MEG3	KNSTRN	FGFR2	PIK3CD	IHH
HP_APLASIA_HYPOPLASIA_OF_THE_3RD_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_3RD_FINGER	NSDHL	COL2A1	GDF5	GNAS	EN1	TBX3
HP_JOINT_CONTRACTURE_OF_THE_3RD_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_CONTRACTURE_OF_THE_3RD_FINGER	SMC1A	PLOD3	SLC26A2	TBX2	MED25
HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_3RD_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_3RD_FINGER	NSDHL	COL2A1	TWIST1	GNAS	FGFR2
HP_TYPE_A_BRACHYDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPE_A_BRACHYDACTYLY	BMPR1B	SRCAP	HOXD13	RBBP8	BMP2	DVL1	PUF60	WNT5A	RUNX2	GDF5	GJA1	GNB2	TFAP2B	SCNM1	IGF2	MYCN	ROR2	PTH1R	NIN	GATA1	NOG
HP_APLASIA_OF_THE_FINGERS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_FINGERS	RPS29	RPS20	TBX5	NEK1	ESCO2	RPL27	WNT7A	XRCC2	RPL35A	FANCA	WNT10B	PSMD12	FANCB	NIPBL	FGFR3	RIPK4	FIG4	SON	RSPO2	ERCC4	RPL26	SLX4	RPS26	FGF10	FANCD2	RPS19	EN1	LMNA	DLX5	RPS17	SALL4	RECQL4	RPS24	GATA1	IFT140	RPS10	MEGF8	BHLHA9	RAD51C	SHH	RPS27	FANCF	TSR2	FANCE	ADA2	TBX3	SMOC1	RPL35	CHD7	NSDHL	RPS28	FGFR2	FANCI	ATP6V1B2	CUL3	FANCC	RPL15	FANCL	SF3B4	RPS7	RPL18	GJA1	PORCN	TRIO	RFWD3	LMBR1	RPL11	VAC14	RPL31	BMPR1B	RPS15A	RPL5
HP_ULNAR_DEVIATION_OF_THE_2ND_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ULNAR_DEVIATION_OF_THE_2ND_FINGER	HOXA13	PTRH2	BMP2	GDF5	TGDS	BMPR1B	ANKRD11
HP_ULNAR_DEVIATION_OF_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ULNAR_DEVIATION_OF_FINGER	RAB3GAP1	HRAS	DHCR7	TNNT3	HOXD13	TNNI2	GDF5	BMPR1B	MYMK	CHRNG	SLC26A2	TPM2	LIFR	BCR	BMP2	TGDS	MYMX	CRKL	SHOX	ANKRD11	NALCN	EXOC6B	HOXA13	MYH3	PTRH2	WNT7A	RAB3GAP2	SALL1	B3GALT6	MYBPC1	TBX22	MAPK1	PAX3	CD96	FBN2	DACT1
HP_RADIAL_DEVIATION_OF_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RADIAL_DEVIATION_OF_FINGER	MAP2K1	CPLANE1	NPAP1	ESCO2	NOG	IFT122	DVL1	ATRX	SNORD115-1	MKRN3	GDF5	PWRN1	MAGEL2	ANKRD11	BCOR	FGFR3	FGD1	IGF1R	NAA10	MKS1	CANT1	PTPN11	SNORD116-1	OFD1	PWAR1	SMAD4	SLC26A2	MEGF8	CRLF1	ALX3	TRPV4	CHSY1	ARL6	EZH2	BRAF	BMPR1B	WNT5A	SIN3A	TGDS	BMP2	FGFR2	MED12	FLNB	HERC2	ALG9	CILK1	PIK3R1	BBS1	PHGDH	IHH	SF3B4	CD96	ROR2	CCDC28B	FLNA
HP_RADIAL_DEVIATION_OF_THE_2ND_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RADIAL_DEVIATION_OF_THE_2ND_FINGER	TGDS	BMP2	CANT1	GDF5	BMPR1B	IHH	FLNA
HP_DEVIATION_OF_THE_2ND_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVIATION_OF_THE_2ND_FINGER	HOXA13	PTRH2	CHSY1	KNSTRN	CANT1	PIK3CD	BMPR1B	HNRNPR	IHH	CSGALNACT1	OPA3	TGDS	BMP2	GDF5	IFT140	MED12	ANKRD11	MED25	FLNA
HP_JOINT_CONTRACTURE_OF_THE_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_CONTRACTURE_OF_THE_HAND	HOXD13	NLRP3	BCOR	ADAT3	ERCC6	MAP3K20	TNNI2	CHRNG	HLA-DRB1	RPL10	CTCF	HES7	TP63	SHH	IDS	COG5	KIF5A	NAA10	NSD1	MEGF10	MYOD1	LMNA	FLNA	CASZ1	COL11A1	CDH3	BMP4	MEG3	NEFL	CCBE1	ORC1	ADAMTS3	GPKOW	FBXO28	SETD2	FAT4	TGFBR1	SPEN	OCRL	KIAA0319L	ECE1	PAX3	PIGL	DVL3	SLC26A2	FZD2	XYLT1	CDT1	SMG9	COL11A2	SKI	UBA1	ORC6	HSPG2	SYNE1	FBXW11	TCTN3	WNT5A	IPO8	SMOC1	SLC39A13	EFNB1	TGDS	MMP2	H4C9	MBTPS2	TGFBR2	CCN2	ZMPSTE24	MED12	GJA1	TPM2	ALG3	COL6A3	TRPS1	KRT1	KDM5B	PIEZO2	NALCN	ZNF407	MYL11	COL12A1	ORC4	FBN2	MUSK	ZDHHC9	TUBA1A	LFNG	MYH3	POLR3A	CTDP1	TMEM70	CDC6	SLC35A3	DDR2	TNNT3	SMAD3	ERCC5	TPRKB	DHODH	ERCC2	SUZ12	TOR1AIP1	TBX3	CANT1	NUP88	CRKL	KRT16	PSMB8	GDAP1	PRG4	IDUA	PRDM16	SMC1A	LUZP1	SH3PXD2B	MKS1	MYL2	COL6A2	IL6ST	L1CAM	ASXL3	DLK1	ARPC4	WDR4	KAT6B	APC2	RTL1	FLVCR1	PORCN	TGFB3	PDPN	WDR73	CNTN1	FHL1	ANO5	PMP22	KCNAB2	HACD1	GMNN	PHGDH	MAPK1	PQBP1	MESP2	MYBPC1	SMARCAD1	PEX6	NUP107	ROR2	ADAMTSL2	AUTS2	LIFR	NOD2	KDM5C	IGHMBP2	SOX9	TWIST2	DVL1	TBX2	DLL3	CCN6	NUP133	CUL4B	RERE	EZH2	FBN1	BCR	LAGE3	GABRD	ANTXR2	MORC2	RTTN	RAB3GAP1	CCR6	RAB23	SLC35A2	PRKCZ	MAFB	UPF3B	OSGEP	NOG	CSGALNACT1	EMG1	GDF5	ALX3	SCARF2	PITX1	FGD1	ALX1	KRT9	GPC3	CHST3	TBX15	LMBR1	PTRH2	EED	PLEKHG5	CRLF1	GLI3	SELENON	MMP23B	PYROXD1	CAPN3	KMT2B	POR	POLR3GL	ERCC1	SVIL	CLCF1	DOK7	COL2A1	GPC4	TP53RK	TPM3	COL6A1	HINT1	UBE4B	FERMT1	C19orf12	PEX5	PLOD3	SIGMAR1	CDC45	MAP3K7	ACTG2	TBC1D2B	CAV1	DYRK1A	SLC18A3	NXN	ITGA7	SLC29A3	TLK2	LAMB3	KCNK9	ARID1B	ACTA1	IRF5	PEX1	SIN3A	RIPPLY2	TBR1	TUBB3	TMEM218	UROS	RAPSN	DHCR24	MED25	LARGE1	LMX1B	AMER1	FGFR3	FKTN	TRPV4	KRT14	IKBKG
HP_DEVIATION_OF_THE_HAND_OR_OF_FINGERS_OF_THE_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVIATION_OF_THE_HAND_OR_OF_FINGERS_OF_THE_HAND	UBA2	PIGN	BCOR	WDR4	SEMA3E	ODC1	FANCB	VPS37D	IFT122	MECOM	TBX1	PHF21A	NSD2	CTCF	CUL7	CPLANE1	UBE2T	DEAF1	LBR	FLNA	CASZ1	COL11A1	KIAA0753	ADGRG6	BMP4	RNU4ATAC	WIPI2	ORC1	CANT1	PTPN11	PIGL	IGF2	IFT140	FZD2	EVC	CDT1	DPYSL5	MEGF8	SPOP	DHCR7	HSPG2	GDF5	ATP2B1	TCF4	ZC4H2	TWIST2	SLC26A2	TGDS	LIG4	CHSY1	ZEB2	ANKRD11	MED12	CCDC8	TPM2	RRAS	OBSL1	PCNT	BMP2	SMC1A	RIT1	HNRNPR	PIEZO2	PHIP	NALCN	DYM	CD96	LAMA5	BHLHA9	ORC4	KCNJ2	PALB2	BMPR1B	MYH3	CREBBP	CDC6	GJA1	TOPORS	MLXIPL	TNNI2	SATB2	BRCA2	H3-3B	JAG1	DVL1	NARS2	CHRNG	TP63	TRIP13	B9D2	AP1G1	AGO2	MAFB	GDF1	PRDM16	STAG2	KNSTRN	SH3PXD2B	MKS1	TCF20	NKX2-5	LONP1	C12orf57	IGF1	FKBP6	FLII	MAN1B1	RAD51C	ASXL3	KMT2A	KIF7	BAP1	TRIO	PDPN	TRPV4	MAD2L2	CDC42	ATN1	FANCA	RAI1	ATR	RUNX2	CHST11	NEK9	GJA5	SLC2A10	GATA6	ATP6V1B2	CLIP2	PIK3R1	BRIP1	EBP	PRKDC	GATA5	XRCC4	MAP1B	COL9A1	TRRAP	GATA4	RFWD3	LMBR1	DPF2	ROR2	PDE6D	SPRED1	RAD21	TBX5	SLC9A7	BUB3	KDM4B	TMEM147	SNORD115-1	CSGALNACT1	PTH1R	OPA3	DLX3	CUL4B	NAA20	GABRD	KLF13	PWRN1	NRAS	CHD7	GNB2	FGFR3	IGF1R	NAA10	MYBPC1	EVC2	PWAR1	PAFAH1B1	PAX3	ALG12	OFD1	SAMD9	CNOT2	BRCA1	UBE3B	HIC1	PACS1	EFTUD2	MADD	ZFPM2	TNNT3	GRB10	WNT5A	ALX3	PITX1	REV3L	RB1	GPC3	FLT4	LTBP1	CHST3	PIGY	CCDC32	TBX15	PTRH2	PI4KA	B3GLCT	ATRX	EMG1	MECP2	MMP23B	CTU2	PLXND1	MAPK8IP3	PRKACB	COG7	B3GALT6	BAZ1B	ELN	CCDC28B	COMP	AKT1	KIFBP	RBM28	POLA1	NOG	EP300	LZTR1	GPC4	MOGS	KCNJ11	ATRIP	USP7	MAGEL2	CHRNA7	FLNB	EIF4H	SHANK3	CKAP2L	ERCC4	MAP3K7	SALL4	MCTP2	SOX6	KDR	NXN	GJA8	ZIC3	RBBP8	ZNF462	MBD5	SRCAP	EZH2	BRAF	PRR12	BRF1	MASP1	AUTS2	NONO	PUF60	HNRNPH1	SNRPB	CILK1	PTF1A	CCNQ	TBX4	SOS1	AMER1	TRAPPC9	LMNA	ACVR1	RSPRY1	DACT1	BUB1	FANCC	CNOT3	IKBKG	CEP152	BRD4	NEK1	HOXD13	MGAT2	H19	LMNB2	BLM	RPL10	CLCN3	KCNK4	FGFR2	PNPLA6	QRICH1	DOK7	MYMX	COG5	MKRN3	COL9A2	HMGA2	EXOC6B	GLI3	RAB18	FGD1	MEG3	HPGD	CBL	SPEN	AMMECR1	RRAS2	METTL27	DVL3	STAG1	XYLT1	SKI	TCTN3	HDAC8	ORC6	ARID1B	NKX2-6	SIK3	EFNB1	H4C3	GTF2IRD1	MYOD1	BUB1B	SHMT2	WDR35	KDM1A	FGF16	MRAS	SMARCA2	CEP57	TMEM94	UBE3A	PEX1	TRPS1	IHH	MYL11	FBN2	BICD2	MYCN	DSP	CITED2	PAICS	BCL7B	MAPRE2	TRAIP	VPS13B	PPP1R21	NPR2	BGN	MACROH2A1	MYMK	SPECC1L	NCF1	HOXA13	CRKL	TWIST1	IQSEC2	EXT2	LMX1B	RERE	LUZP1	UBR1	SIN3A	TBX22	PIK3CD	ATG7	SMAD4	WDR19	RFC2	ABL1	COG8	PIGH	FANCD2	BRAT1	KAT6B	TBL2	HRAS	PACS2	KRAS	BLTP1	MUSK	RNF216	GTF2I	OGT	CNTN1	FANCI	DONSON	KCNAB2	SHOX	ABCC8	BPTF	HERC2	SIAH1	ZMYM2	ALDH1A2	RAB3GAP2	NKX3-2	GMNN	PHGDH	TFAP2A	MAPK1	CEP55	PQBP1	KDM6B	XRCC2	CENPE	CENPJ	MAF	CDH11	STX1A	HEATR3	HOXA11	NIN	COL9A3	DNAJC30	KPTN	NPAP1	TBC1D24	ESCO2	JUP	NSUN2	ZNF292	KCNH1	BCR	NIPBL	SNRPN	YWHAE	KAT8	WNT7A	PCDHGC4	RAB23	TELO2	PLAG1	SNORD116-1	EIF4A3	TFAP2B	PRKCZ	SETBP1	NUP37	AFF2	PPP2R1A	RBM8A	SOS2	NUP85	DLK1	SHH	ARL6	IFT52	MAN2C1	PTEN	ALX1	SMC3	SPRED2	FANCF	HDAC4	BUD23	NFIX	SOST	SF3B4	RASA2	NEXMIF	IRX5	RAF1	MEF2C	SMOC1	MAP2K1	RAB3GAP1	PKDCC	MIA3	CDKN1C	LIFR	FANCM	SLX4	UBE4B	KMT2B	IFT43	PLK4	LEMD3	PLOD3	GTF2IRD2	LIMK1	CDC45	FANCL	DHPS	EPB41L1	CRIPT	TMEM216	RTL1	ALG9	DPAGT1	CRLF1	TMEM270	L1CAM	OTUD5	FANCE	FANCG	MED25	PIGS	FAM149B1	BBS1	SALL1	YY1AP1	RAD51
HP_RADIAL_DEVIATION_OF_THE_HAND_OR_OF_FINGERS_OF_THE_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RADIAL_DEVIATION_OF_THE_HAND_OR_OF_FINGERS_OF_THE_HAND	MAP2K1	CPLANE1	COL9A3	NPAP1	ESCO2	NOG	IFT122	DVL1	BGN	ATRX	SNORD115-1	MKRN3	COL9A2	GDF5	PWRN1	MAGEL2	ANKRD11	BCOR	FGFR3	GLI3	ZC4H2	FGD1	IGF1R	NAA10	MKS1	CANT1	PTPN11	SALL4	SNORD116-1	EIF4A3	OFD1	PWAR1	SMAD4	SLC26A2	MEGF8	CRLF1	SAMD9	ALX3	RBM8A	TRPV4	CHSY1	ARL6	EZH2	BRAF	BMPR1B	WNT5A	SIN3A	TGDS	PITX1	BMP2	FGFR2	MED12	FLNB	HERC2	ALG9	CILK1	PIK3R1	BBS1	PHGDH	IHH	SF3B4	COL9A1	CD96	ROR2	CCDC28B	FLNA
HP_RADIAL_DEVIATION_OF_THE_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RADIAL_DEVIATION_OF_THE_HAND	SAMD9	COL9A3	RBM8A	GLI3	ZC4H2	PITX1	COL9A2	SALL4	BGN	EIF4A3	COL9A1
HP_ULNAR_DEVIATION_OF_THE_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ULNAR_DEVIATION_OF_THE_HAND	COMP	COL9A3	RBM8A	RBM28	MUSK	MAN2C1	B9D2	LBR	ZEB2	COL9A2	FLNA	MED12	MAFB	ADGRG6	PCDHGC4	ALG9	CILK1	PEX1	MAP3K7	COL9A1	LAMA5	ASXL3	SLC26A2	MYH3	DPYSL5	PAX3
HP_ABNORMALITY_OF_THE_PHALANGES_OF_THE_2ND_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PHALANGES_OF_THE_2ND_FINGER	BMPR1B	KIF15	COL2A1	TWIST1	SRCAP	BMP2	FIG4	BHLHA9	FGFR2	HOXD13	NSDHL	RUNX2	GDF5	IFT140	MYCN	INTU
HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_2ND_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_2ND_FINGER	BMPR1B	NSDHL	COL2A1	TWIST1	FIG4	FGFR2
HP_ABNORMALITY_OF_THE_MIDDLE_PHALANX_OF_THE_2ND_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MIDDLE_PHALANX_OF_THE_2ND_FINGER	BMPR1B	SRCAP	BMP2	FIG4	BHLHA9	HOXD13	NSDHL	RUNX2	GDF5	IFT140	MYCN	INTU
HP_ABSENT_TIBIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_TIBIA	CHD7	DYNC2H1	GLI3	LMBR1	PITX1	ATP7A
HP_SHORT_MIDDLE_PHALANX_OF_THE_2ND_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_MIDDLE_PHALANX_OF_THE_2ND_FINGER	HOXD13	RUNX2	GDF5	SRCAP	MYCN	INTU
HP_ABNORMALITY_OF_THE_VESTIBULOCOCHLEAR_NERVE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_VESTIBULOCOCHLEAR_NERVE	SPRED1	NF2	DKK1	KARS1	COCH	PRNP	HRAS
HP_ASTROCYTOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASTROCYTOMA	MLH1	CDKN2A	NSD1	APC	TSC1	TP53	NF1	IFNG	MSH6	CHEK2	IDH1	MDM2	ERBB2	NF2	PMS2	BRCA2	POT1	TSC2	SETD2	MSH3	IDH2	APC2
HP_RETINAL_HAMARTOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_HAMARTOMA	AKT1	NF1	SDHB	FH	SDHC	PTEN	IFNG	SLC25A11	CCND1	VHL	NF2	TMEM127	KIF1B	SDHD	MAX	TSC2	MDH2	TSC1	SDHA	RET	DLST	SDHAF2
HP_FLEXION_CONTRACTURE_OF_THUMB	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLEXION_CONTRACTURE_OF_THUMB	RTL1	DLK1	ECE1	BMP4	MEG3	L1CAM
HP_APLASIA_HYPOPLASIA_OF_THE_THUMB	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_THUMB	BMPR1B	VPS35L	BRD4	SVBP	SOX9	RAD21	TBX5	PTCH2	NSUN2	LETM1	MYCN	CPLX1	GDF5	SETBP1	FANCA	FZD2	LMBR1	FGFR2	FANCB	FGFR1	SRCAP	RIPK4	FIG4	ZNF699	ERCC4	FLNA	MED12	RPS26	COL2A1	RPL26	FANCD2	ACAN	RPS19	MEG3	WIPI2	BRCA2	CANT1	LMNB2	BCOR	SALL4	EIF4A3	RECQL4	RPS24	CTBP1	GATA1	NSD2	SLC26A2	RBM8A	HDAC8	DLK1	RAD51C	SHH	RPS27	TSR2	FANCE	FGFRL1	MIR17HG	ADA2	SF3B4	LTBP2	REV3L	SMC3	LIG4	RPS28	RB1	FANCI	LRP4	HOXA13	KDM1A	SMC1A	FANCC	RPL15	FANCL	BHLHA9	IHH	ESCO2	PLXND1	LAMA5	RFWD3	RPL11	VAC14	RPS15A	FBN1	ADAMTS10	RPS29	CREBBP	RPS20	PKDCC	FRAS1	NOG	EP300	RPL27	XRCC2	RPL35A	UBE2T	CHN1	PALB2	PSMD12	TP63	FGFR3	DHCR7	SON	RSPO2	NIPBL	SLX4	MGP	FGF10	KNSTRN	MAP3K7	RPS17	PIK3CD	RTL1	BRIP1	RPS10	PCNT	PTCH1	RPL5	FANCF	RPL35	CHD7	SIN3A	KCNH1	SUFU	PIGG	GNAS	CHST11	RNU4ATAC	APC	CUL3	ZMYM2	BICRA	TFAP2A	RPS7	RPL18	TRIO	NELFA	ATP6V1B2	MAFB	ACVR1	RPL31	DHODH
HP_ABNORMALITY_OF_THUMB_PHALANX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THUMB_PHALANX	VPS35L	BRD4	BCOR	FANCB	LMBR1	FANCA	UBE2T	FGFR2	SHH	GPC4	FGFR1	NAA10	NSD1	ACAN	FLNA	EP300	MEGF8	RPS26	COL2A1	FANCD2	CNOT1	MEG3	CANT1	SALL4	RPS24	GATA1	HDAC8	GLI3	RPS27	GDF5	FANCE	ADA2	SLC26A2	SUMF1	TBX5	KCNN3	LIG4	RPS28	CHSY1	G6PC3	CWF19L1	SHMT2	MED12	SMC1A	FANCC	RPL15	HNRNPR	IHH	FGFR3	LAMA5	OTUD6B	RPL11	ACTG1	PALB2	TWIST1	RPS29	TP63	CREBBP	RAB23	USP9X	SATB2	BRCA2	DVL1	RPL27	FGF9	RPL35A	CHN1	HOXA13	SUZ12	PSMD12	SMO	BMPR1B	FGF10	KNSTRN	PIGF	GNAS	PIK3CD	ALX4	KIF7	RAD51C	EED	RPS10	PCNT	DVL3	PTCH1	RPL5	INPPL1	MAD2L2	NUP107	FLNB	KCNH1	FANCI	SUFU	ATP6V1B2	PRKD1	SIAH1	BRIP1	BICRA	RPL18	PQBP1	PTEN	RFWD3	MAFB	XRCC2	XYLT1	RPL31	ROR2	SOX9	RAD21	TBC1D24	PTCH2	NSUN2	EXOSC2	GATA4	GLI1	SETBP1	NOG	PIGB	FZD2	EZH2	DHX30	FIG4	SNIP1	BMPR1A	HPGD	RPL26	PCDHGC4	RPS19	MEIS2	DLX5	SALL1	RBM8A	BRCA1	DLK1	PACS1	H3-3A	ACTB	TSR2	HOXD13	MAN2C1	SF3B4	WNT5A	CHST3	SMC3	DNM1L	GPC3	FANCF	SF3B2	PAH	ESCO2	VAC14	RPS15A	BPTF	SMOC1	RPS20	PYCR2	GJA5	FANCM	SLX4	BMP2	INTU	TTC26	NIPBL	ERCC4	FANCL	MAP3K7	RPS17	PPP2R3C	RTL1	MSX2	NXN	GJA8	RLIM	SRCAP	RPL35	B3GAT3	PUF60	FANCG	ALG9	CILK1	POGZ	RPS7	ADNP	NONO	TRIO	RAD51	ACVR1	DACT1	PRKG2
HP_DEVIATION_OF_THE_THUMB	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVIATION_OF_THE_THUMB	CDC42	BRD4	RAD21	MGAT2	GATA4	PTRH2	FANCB	HOXA13	KCNH1	TP63	NIPBL	SMC3	DHCR7	NOG	SIN3A	SMC1A	EIF4A3	LONP1	CRIPT	SLC26A2	ZIC3	MEGF8	ALG12	ZNF462	HDAC8	BRCA1	RAD51C	BAP1	EFTUD2	RRAS2	FGFR2	BMP4	CHSY1	SHMT2	FLNB	ALG9	CILK1	B3GLCT	NKX3-2	ZC4H2	TFAP2A	ESCO2	FLNA	HEATR3	ANKRD11
HP_DUPLICATION_OF_THE_DISTAL_PHALANX_OF_THE_THUMB	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUPLICATION_OF_THE_DISTAL_PHALANX_OF_THE_THUMB	LMBR1	PPP2R3C	BMPR1B	PAH	KIF7	GDF5	CANT1
HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_THUMB	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_THUMB	LMBR1	CREBBP	BMPR1B	PTCH2	FGFR2	GLI3	GNAS	EP300	GDF5	GLI1	HOXD13	SLC26A2	KCNH1	KIF7	SUFU	CHSY1	CWF19L1	FLNA	FLNB	PAH	ALG9	CILK1	KNSTRN	MAP3K7	CANT1	PIK3CD	IHH	SALL4	PPP2R3C	MEGF8	PTCH1
HP_ABNORMALITY_OF_THE_PROXIMAL_PHALANX_OF_THE_THUMB	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PROXIMAL_PHALANX_OF_THE_THUMB	NONO	BMPR1B	IHH	CHSY1	RAB23	FGFR2	PQBP1
HP_PROXIMAL_PLACEMENT_OF_THUMB	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_PLACEMENT_OF_THUMB	CDC42	BRD4	HDAC8	RAD21	DHCR7	BRCA1	RAD51C	BAP1	MGAT2	EFTUD2	RRAS2	BMP4	GATA4	PTRH2	SIN3A	FANCB	HOXA13	KCNH1	TP63	SMC3	NIPBL	SHMT2	SLC26A2	NOG	B3GLCT	SMC1A	NKX3-2	ZC4H2	TFAP2A	EIF4A3	LONP1	ESCO2	FLNA	CRIPT	ZIC3	ALG12	ANKRD11	ZNF462
HP_APLASIA_HYPOPLASIA_OF_THE_DISTAL_PHALANX_OF_THE_THUMB	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_DISTAL_PHALANX_OF_THE_THUMB	BMPR1B	PTCH2	SUFU	GNAS	KNSTRN	MAP3K7	PIK3CD	SALL4	FLNA	PTCH1
HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_THUMB	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_THUMB	VPS35L	BRD4	BMPR1B	SOX9	RAD21	PTCH2	NOG	XRCC2	SETBP1	HOXA13	FZD2	FIG4	FLNA	NIPBL	FANCD2	CNOT1	MEG3	KNSTRN	MAP3K7	CANT1	PIK3CD	SALL4	RTL1	GDF5	PCNT	PTCH1	HDAC8	DLK1	SHH	SRCAP	KCNH1	SUFU	SMC3	GNAS	FGFR2	FANCI	SMC1A	IHH	LAMA5	TRIO	LMBR1	ACVR1	VAC14
HP_PARTIAL_ABSENCE_OF_THUMB	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARTIAL_ABSENCE_OF_THUMB	TRIO	LMBR1	SHH	FANCD2	VAC14	FGFR2	FIG4	XRCC2
HP_SHORT_PHALANX_OF_THE_THUMB	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_PHALANX_OF_THE_THUMB	VPS35L	BRD4	BMPR1B	HDAC8	SOX9	RAD21	DLK1	PTCH2	NOG	SRCAP	SETBP1	HOXA13	FZD2	KCNH1	SUFU	SMC3	GNAS	FANCI	GDF5	FLNA	NIPBL	MEG3	KNSTRN	MAP3K7	SMC1A	CANT1	PIK3CD	IHH	SALL4	LAMA5	RTL1	ACVR1	PCNT	PTCH1
HP_CONTRACTURE_OF_THE_DISTAL_INTERPHALANGEAL_JOINT_OF_THE_FINGERS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONTRACTURE_OF_THE_DISTAL_INTERPHALANGEAL_JOINT_OF_THE_FINGERS	SIN3A	IDUA	SOX9	TOR1AIP1	LMX1B
HP_CARPAL_SYNOSTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARPAL_SYNOSTOSIS	BMPR1B	PAX3	HOXD13	MYH3	FLNA	NOG	MACROH2A1	HOXA13	B3GALT6	LMBR1	PITX1	FLNB	FGFR3	MAP3K7	SALL4	NXN	ATP7A	EVC2	RECQL4	RBM8A	FGFR2	SHH	GDF5	CHSY1	DYNC2LI1	FBLN1	LRP4	GLI1	APC	ESCO2	BHLHA9	EVC	POR	ROR2	PRKACA	SMOC1	PRKACB
HP_CHILBLAINS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHILBLAINS	RNASEH2C	TREX1	LSM11	RNU7-1	SAMHD1	IFIH1	ADAR	DNASE2	RNASEH2A	RNASEH2B
HP_ABNORMAL_EPIDIDYMIS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EPIDIDYMIS_MORPHOLOGY	CREBBP	IGKC	UNG	BTK	VHL	SRCAP	EP300	HNF1B	DHH	CLDN2	CCND1	IGHG2	PSMB8
HP_PAPILLARY_CYSTADENOMA_OF_THE_EPIDIDYMIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAPILLARY_CYSTADENOMA_OF_THE_EPIDIDYMIS	CREBBP	CCND1	VHL	HNF1B	EP300
HP_HYPOMELANOTIC_MACULE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOMELANOTIC_MACULE	KRT14	IFNG	TSC2	POFUT1	KRT5	TSC1
HP_ADENOMA_SEBACEUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADENOMA_SEBACEUM	PTEN	MSH2	MLH1	PLCD1	MEN1	NRAS	KLLN	MSH6	TSC1	PIK3CA	HRAS	SDHD	IFNG	SDHB	KRT17	AKT1	SDHC	KRAS	TSC2	USF3	SEC23B
HP_SHAGREEN_PATCH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHAGREEN_PATCH	TSC1	IFNG	PTEN	TSC2	SLC25A24
HP_DENTAL_ENAMEL_PITS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DENTAL_ENAMEL_PITS	ITGB6	DLX3	AMBN	DSPP	COL17A1	ITGB4	TSC1
HP_ABNORMALITY_OF_THE_SUBUNGUAL_REGION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_SUBUNGUAL_REGION	MBTPS2	COL7A1	TSC1	ATP2A2	IFNG	CARD14	KRT17	TRPV3	JUP	KRT14	TSC2
HP_BLADDER_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLADDER_NEOPLASM	PIK3CA	RNF43	BRAF	PDGFRL	FGFR3	AKT1	AURKA	BUB1	DCC	PTPN12	MCC	KRAS	CHEK2	TP53	APC	RB1	SRC	FLCN	TLR2	RAD54B	NRAS	PTPRJ	NTHL1	HRAS	CCND1	BUB1B	PLA2G2A	DLC1	MLH3	EP300	BAX	AXIN2	PTEN	ATP7A	CTNNB1
HP_NEOPLASM_OF_STRIATED_MUSCLE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_STRIATED_MUSCLE	DICER1	MLH1	PTCH2	BUB3	TSC1	TRIP13	NF1	IFNG	CEP57	PTCH1	SUFU	TP53	NRAS	CHEK2	BUB1B	NBN	MDM2	SLC22A18	TSC2	KEAP1	FOXO1	MC1R	SOX6	CDKN2A	HRAS	BUB1	PAX7	PAX3
HP_CARDIAC_RHABDOMYOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIAC_RHABDOMYOMA	IFNG	PTCH2	SUFU	TSC2	TSC1	SOX6	PTCH1
HP_CEREBRAL_HAMARTOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_HAMARTOMA	CPLANE1	KIF7	TOPORS	GLI3	SOX2	TSC1	OFD1	MAN2C1	SIX6	GCDH	IFNG	KIAA0753	FAM149B1	TSC2	SMO	VPS16	TMEM216	TIAM1	TCTN3	PDE6D
HP_GLIOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLIOMA	PMS1	ZFTA	CDKN2A	TGFBR2	APC	TSC1	PMS2	NF1	MLH1	CHEK2	ERBB2	BRCA2	POT1	NBN	TSC2	BMPR1A	SETD2	SEMA4A	MSH3	SETBP1	RELA	CDKN1B	MSH2	MLH3	CDKN1A	PIK3CA	NF2	APC2	MEN1	NSD1	TP53	IFNG	FAN1	MSH6	IDH1	MDM2	EPCAM	RPS20	KRAS	SMO	CDKN2C	CDKN2B	IDH2
HP_ABNORMAL_ANTIHELIX_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ANTIHELIX_MORPHOLOGY	CREBBP	RAB3GAP1	GLI2	STEEP1	NSUN2	POR	AASS	RPL10	SLC16A2	TOR1A	LIG4	WAC	FLNA	EVC	TWIST1	EYA1	NR2F1	KAT6A	RECQL4	KCTD1	PAX1	XYLT2	RBM10	EVC2	RAB3GAP2	AP4E1	PIGN	FIG4	FGFR2	BICRA	MGAT2	FGFR3	EFTUD2	SCNM1	NUP188	FOXG1	PGAP1	SALL1	KAT6B	TCF3
HP_LARGE_EARLOBE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_EARLOBE	HRAS	GJA1	ZEB2	CDH11	WDR4	EIF2S3	TRIP12	PIK3CA	PHF6	UGDH	BRAF	OTUD5	MLXIPL	PIGY	VPS53	SLC26A2	PGAP3	PLXNA1	FGD1	TMEM94	TPRKB	DOCK7	BICRA	DPYD	DHCR24	SPEN	EFTUD2	SETBP1	ELN	NOTCH2	SMOC1
HP_APLASIA_OF_THE_PECTORALIS_MAJOR_MUSCLE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_PECTORALIS_MAJOR_MUSCLE	TBX5	REV3L	MYMX	TBX3	MYMK	PLXND1
HP_ANKYLOBLEPHARON	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANKYLOBLEPHARON	ERCC2	BCOR	RIPK4	TP63	CILK1	ERCC4	FREM2	DDB2	ERCC5	ERCC3	XPC	IRF6	NAA10	RAX	CHUK	XPA
HP_POPLITEAL_PTERYGIUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POPLITEAL_PTERYGIUM	GPC6	RIPK4	CHRNG	PITX1	IRF6	MYH3	CHUK	BHLHA9
HP_ANTECUBITAL_PTERYGIUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTECUBITAL_PTERYGIUM	IGF2	LMX1B	CHRNG	MYH3	CHUK
HP_LIMB_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_PAIN	KRT6B	COL9A3	HYAL1	ATL3	COL2A1	FAR1	HMBS	ACP5	ERLIN1	ALDH18A1	COL5A2	MFN2	COL9A2	SPTLC2	MAFB	IDUA	CPOX	LEMD3	MT-TK	B2M	MT-ATP6	NLRP12	HTRA1	KRT6A	SLCO2A1	CCND1	SPG7	COMP	FLI1	TONSL	GJB2	RASA1	MME	TREX1	TRAPPC2	PRKRA	FN1	KRT14	TGFB1	KRT17	COL1A1	COL9A1	KRT16	COL5A1	LMX1B	MATN3	SPTLC1	HEPHL1	KRT5	ATL1	BSCL2	VHL	GJB6
HP_LOW_HANGING_COLUMELLA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_HANGING_COLUMELLA	CREBBP	ZEB2	MGAT2	ITCH	EP300	H3-3B	ZMIZ1	CLCN3	PPP1R21	GJA5	CDC42BPB	NOG	TRIP12	KNL1	LIFR	UBE2A	AFF3	HIVEP2	SRCAP	TBCD	CAPN15	KMT5B	PCDHGC4	ASXL3	CTNNB1	RAC1	GJA8	SOX11	TAF6	EDEM3	SMARCA2	ATN1	AIMP2	CDH11	GJA1	KAT6A	RYR1	TRIO	THOC6	CKAP2L	POC1A	KDM3B	BICRA	HNRNPR	KDM5B	PQBP1	HNRNPH2	TWIST1	ZNF148
HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_HAND	VPS35L	BRD4	PIGN	HOXD13	EOGT	LMBR1	MGP	KAT6B	IFT122	MECOM	GDF5	ACP5	IL11RA	ARSL	ACTL6B	ZBTB20	TRIP11	LMNA	GPC4	LBR	FLNA	ZMPSTE24	COL2A1	PIGY	FANCD2	IDH1	BMP4	CNOT1	MEG3	IFT52	CANT1	SMARCE1	EXTL3	PIGV	PRKAR1A	IGF2	IFT140	MBD5	DLL4	MEGF8	FBN1	HDAC8	ARID1B	INPPL1	MIR17HG	SLC39A13	KCNN3	COL11A2	NHS	RECQL4	SMARCA4	DOCK6	GJA1	WDR35	SMARCA2	TRPS1	POC1A	STAMBP	SMC1A	SLC26A2	BHLHA9	HNRNPR	IHH	LAMA5	JAG1	FGFR1	WNT7A	KCNJ2	MYCN	CHUK	MTX2	PTH1R	RBPJ	BMPR1B	TP63	RBBP8	DVL1	BGN	NOTCH1	RPS6KA3	HOXA13	NOG	PIEZO2	TBX3	CRKL	KNSTRN	PIGF	PIK3CD	LONP1	DYM	WDR19	RUNX2	PCNT	DVL3	GATA1	PTCH1	KDM5C	ARID1A	NEPRO	ADAMTS2	TRPV4	FLNB	PRKG2	KCNH1	SUFU	PIGO	CHST11	PDE4D	PCYT1A	ATP6V1B2	FIG4	MAPK1	ALG6	FGFR2	HHAT	ROR2	PTHLH	NIN	SOX9	RAD21	TBC1D24	PTCH2	BMP2	SETBP1	PIGB	FZD2	BCR	KDM6A	KMT2D	RIPK4	PTDSS1	EDA2R	GNB2	FGFR3	GPX4	SLC25A24	RAB23	HDAC4	ABCC9	SALL4	EIF4A3	TFAP2B	GMNN	COG4	DNMT3A	SOX11	EVC2	CWC27	RBM8A	DLK1	SHH	POR	PDE3A	RAB33B	PUF60	WNT5A	ARHGAP31	CDH11	SMC3	FN1	KCNJ8	EIF2AK3	CHST3	FANCI	GLI1	KIF15	NFIX	PGAP2	CCDC22	VAC14	TWIST1	COL10A1	PHF6	FTSJ1	COMP	RAB3GAP2	MIA3	POLA1	FRAS1	SH3PXD2B	XRCC2	GJA5	NOTCH2	LIFR	IFT57	INTU	NIPBL	XYLT1	PIGW	IFT43	MAP3K7	PGAP3	MCTP2	PIGL	CRIPT	RTL1	NPR2	NXN	GJA8	GPC3	DDR2	CLCN7	GGCX	SRCAP	MTOR	DPYS	BRF1	EDA	NSDHL	GNAS	DYNC2LI1	TGFBR2	SMARCB1	PIGS	ANAPC1	PORCN	TRIO	ACVR1	EVC	PRKACA	KMT2A	PRKACB
HP_BROAD_PHALANGES_OF_THE_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_PHALANGES_OF_THE_HAND	NSUN2	CDKL5	GNAS	EXOSC2	GATA4	IFT122	NOG	HS2ST1	KCNH1	EZH2	DHX30	B3GALT6	FGFR2	GPC4	FGFR1	NSD1	ACAN	SNIP1	BMPR1A	FLNA	HPGD	EP300	FGFR3	MEGF8	COL2A1	PCDHGC4	MEG3	RNU4ATAC	MEIS2	EXTL3	WDR19	AMMECR1	SETD5	SALL1	RBM8A	DLK1	CREBBP	PACS1	H3-3A	SMARCA2	GLI3	HOXD13	MAN2C1	SUMF1	ZNF141	WNT5A	CHST3	TBX5	LIG4	DNM1L	GPC3	G6PC3	MED12	COL10A1	PTEN	EED	HNRNPR	SMO	KIF22	OTUD6B	ADAMTS10	TWIST1	BPTF	SMOC1	DVL3	RAB23	PYCR2	FLNB	USP9X	SATB2	DVL1	GJA5	FGF9	SUZ12	PSMD12	BMP2	TTC26	XYLT1	KNSTRN	MAP3K7	PIK3CD	ALX4	RTL1	NXN	GJA8	RLIM	WLS	SRCAP	INPPL1	NEPRO	MSX2	IFIH1	B3GAT3	PUF60	GATAD2B	PRKD1	SIAH1	POGZ	GDF5	BICRA	ADNP	DACT1	PRKG2	ROR2	FBN1
HP_SYMPHALANGISM_AFFECTING_THE_PHALANGES_OF_THE_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYMPHALANGISM_AFFECTING_THE_PHALANGES_OF_THE_HAND	TFAP2B	CHSY1	NOG	CHRNG	GDF5	FGF9	IHH	FGFR2	HOXD13	MYH8	MYH3	SLC26A2	PTDSS1	BMPR1B	BHLHA9	PQBP1	NONO	ROR2
HP_TRIANGULAR_SHAPED_PHALANGES_OF_THE_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRIANGULAR_SHAPED_PHALANGES_OF_THE_HAND	KCNH1	DDR2	BMP2	GDF5	CANT1	BMPR1B
HP_AMNIOTIC_CONSTRICTION_RING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMNIOTIC_CONSTRICTION_RING	GJB2	LORICRIN	FERMT1	SMARCAD1	TP63	KANK2	POMP	GLE1	GJA1
HP_ABSENT_THUMB	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_THUMB	RPS29	RPS20	TBX5	RPL27	XRCC2	RPL35A	FANCA	PSMD12	FANCB	FGFR3	RIPK4	FIG4	SON	RSPO2	ERCC4	RPL26	SLX4	RPS26	FGF10	FANCD2	RPS19	RPS17	SALL4	RECQL4	RPS24	GATA1	RPS10	RAD51C	RPS27	FANCF	TSR2	FANCE	ADA2	RPL35	RPS28	FANCI	FGFR2	CUL3	FANCC	RPL15	FANCL	SF3B4	RPS7	RPL18	RFWD3	RPL11	VAC14	RPL31	RPS15A	RPL5
HP_SHORT_THUMB	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_THUMB	VPS35L	BRD4	SVBP	SOX9	RAD21	PTCH2	LETM1	MYCN	CPLX1	GDF5	SETBP1	FANCA	FZD2	SRCAP	RIPK4	ZNF699	FLNA	MED12	RPS26	COL2A1	RPL26	FANCD2	ACAN	RPS19	MEG3	WIPI2	BRCA2	CANT1	LMNB2	BCOR	SALL4	EIF4A3	RPS24	CTBP1	GATA1	NSD2	SLC26A2	RBM8A	HDAC8	DLK1	RAD51C	RPS27	TSR2	FANCE	FGFRL1	MIR17HG	ADA2	LTBP2	SMC3	RPS28	FANCI	FGFR2	LRP4	HOXA13	KDM1A	SMC1A	FANCC	RPL15	IHH	LAMA5	RPL11	BHLHA9	RPS15A	FBN1	ADAMTS10	BMPR1B	RPS29	CREBBP	RPS20	PKDCC	NOG	EP300	RPL27	RPL35A	UBE2T	PALB2	PSMD12	FGFR3	DHCR7	NIPBL	SLX4	MGP	FGF10	KNSTRN	MAP3K7	RPS17	PIK3CD	RTL1	BRIP1	RPS10	PCNT	PTCH1	RPL5	ESCO2	FANCF	RPL35	CHD7	SIN3A	KCNH1	SUFU	PIGG	GNAS	CHST11	RNU4ATAC	RECQL4	APC	ZMYM2	FIG4	BICRA	TFAP2A	RPS7	RPL18	NELFA	ATP6V1B2	ACVR1	RPL31	DHODH
HP_3_4_TOE_SYNDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_3_4_TOE_SYNDACTYLY	HOXD13	CDH3	RHOA	SALL1	GJA1	SMO
HP_PERIANAL_ABSCESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIANAL_ABSCESS	IL10RA	ELANE	IKZF3	ELF4	IL10RB	MNX1	CYBC1	RIPK1	G6PC3	TGFB1
HP_TERATOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TERATOMA	PRKAR1A	MNX1	STK11	NSD1	SETBP1	SETD2	BCL10	MSH3	PDE11A	KIT	FGFR3	APC2
HP_BRANCHIAL_ANOMALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRANCHIAL_ANOMALY	SIX1	HNRNPK	POLR1B	POLR1C	EYA1	POLR1D	TFAP2A	TCOF1	MAPK1	PUF60	SIN3A	BCR	SIX5	WAC	CRKL	RPL10	SF3B2
HP_BRANCHIAL_FISTULA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRANCHIAL_FISTULA	SIX1	POLR1B	POLR1C	EYA1	POLR1D	TCOF1	MAPK1	SIN3A	BCR	CRKL
HP_BRANCHIAL_CYST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRANCHIAL_CYST	SIX1	EYA1	SIX5	RPL10	PUF60
HP_EUTHYROID_GOITER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EUTHYROID_GOITER	PRKAR1A	SIX1	PDE11A	EYA1	DICER1
HP_SUPERNUMERARY_SPLEENS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPERNUMERARY_SPLEENS	ZMYND10	CSPP1	ESCO2	DNAJB13	LETM1	MYCN	CPLX1	YARS1	LRRC56	RPGRIP1	GPC4	LTBP4	TXNDC15	GAS8	HYLS1	B9D2	DNAAF4	OFD1	MEGF8	RSPH3	TCTN2	RAB23	DNAL1	TCTN3	STK36	TMEM107	CTBP1	ODAD4	NSD2	CFAP300	EXOC2	TMEM67	MYRF	FGFRL1	CCDC65	CDON	DNAAF3	CFAP45	CENPF	ZIC3	CCDC39	GPC3	PRIM1	MMP21	DNAAF1	ODAD3	FOXJ1	CCDC40	NME8	MKS1	RFWD3	TCTN1	ODAD2	DNAI2	DNAH1	DNAH5	TMEM231	DNAH9	CREBBP	CFC1	ATP6AP1	SPAG1	EP300	TTC12	ACVR2B	DNAAF11	RPGR	CEP290	DNAI1	DNAH11	CFAP221	RSPH4A	NEK10	HYDIN	WT1	SPEF2	CFAP298	PPP2R3C	TMEM237	RSPH1	TMEM216	WDR35	NPHP3	CCDC103	GDF1	MCIDAS	CCNO	RSPH9	GAS2L2	DNAAF2	DNAAF6	DNAAF5	B9D1	CC2D2A	DRC1	ODAD1	RPGRIP1L
HP_MATERNAL_DIABETES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MATERNAL_DIABETES	CTRC	VANGL1	FUZ	KCNJ11	TGIF1	OTX2	ABCC8	TDGF1	ZFP57	GJA1	VANGL2	FOXH1	SUFU	NAA10	ARNT2	PPARG	CDON	FGFR1	ZIC2	PLAGL1	SOX3	HESX1	GLI2	CLCNKB	SOX2	NKX2-5	COL2A1	DISP1	SHH	SPINK1	GAS1	SIX3	MTHFR	PTCH1	NODAL	HYMAI	HNF1A	DLL1	FGF8	PROKR2	FCGR3B	SLC12A3
HP_APLASIA_OF_THE_PHALANGES_OF_THE_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_PHALANGES_OF_THE_HAND	LMBR1	SHH	FANCD2	FIG4	LMNA	XRCC2	GJA1	TRIO	NSDHL	VAC14	IFT140	BMPR1B	FGFR2	MEGF8	ATP6V1B2
HP_NEPHROGENIC_DIABETES_INSIPIDUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEPHROGENIC_DIABETES_INSIPIDUS	AVPR2	VPS33B	ARL6	VIPAS39	BBS1	AQP2	CCDC28B
HP_ABNORMAL_UPPER_LIMB_METAPHYSIS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_UPPER_LIMB_METAPHYSIS_MORPHOLOGY	COL10A1	COMP	STX16	MAGEL2	ANAPC1	PHEX	EZH2	COL2A1	TRPV4	NDN	MMP9	MMP13	TRAPPC2	GNAS	RECQL4	RPL13	SNRPN
HP_ABNORMALITY_OF_UPPER_LIMB_JOINT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_UPPER_LIMB_JOINT	NLRP3	VPS37D	CYP27B1	MECOM	LRP4	GDF5	BMP1	CTCF	GJB2	HS2ST1	LMNA	GPC4	BMP4	NEFL	ADAMTS3	PTPN11	SETD2	GNPTAB	PRKAR1A	FZD2	CDT1	TCF12	SFRP4	FBXW11	SHH	TCTN3	FHL1	SLC39A8	CHSY1	MECP2	MBTPS2	TGFBR2	B4GALT7	COL6A1	CCDC8	TPM2	OBSL1	SKI	UNC80	KRT1	NALCN	ZNF407	BHLHA9	LARS2	NIN	TUBA1A	JAG2	PTH1R	CREBBP	POLR3A	TRPV4	CDC6	LZTR1	TNNI2	ERCC5	DHODH	DVL1	COL6A2	NOG	TOR1AIP1	KRT16	KAT6B	KIDINS220	RPL26	TWIST1	PRG4	TBX22	ERGIC1	MAFB	PTPN2	MKS1	MYL2	IL6ST	LONP1	FKBP6	KMT2A	HSPG2	KDM5C	DYM	MAP3K7	PMP22	GNB1	IL2RA	COLEC11	COL9A1	FGF9	LMBR1	PEX6	B3GALT6	FBN1	SRY	IGHMBP2	RAD21	FLNB	LETM1	DHX16	DLL3	OPA3	MAF	MYH7	ABCC9	CUL4B	EZH2	LAGE3	SPRTN	GABRD	STXBP1	PTDSS1	SHOX	GSC	MMP14	CBL	FGFR3	GRB10	WNT5A	ALX3	KRT9	GPC3	FBLN1	KIF22	SELENON	VPS13B	CANT1	POLR3GL	ASXL1	BAZ1B	ALDH18A1	DOK7	WDR73	EIF4H	SIGMAR1	SMC1A	CAV1	FLNA	DYRK1A	NXN	ITGA7	BRAF	IFITM5	SRCAP	COL2A1	IRF5	COMP	MASP1	TUBB3	HNRNPH1	MATN3	SYNE1	COL5A1	FDFT1	RAF1	FLVCR1	ATP7A	ESCO2	P4HTM	RNU4ATAC	IKBKG	PRKACB	BMPR1B	BRD4	HOXD13	ERCC6	FGFR2	TMEM43	SHOC2	TRIP11	KIF5A	COL9A2	NAA10	NSD1	MEGF10	CDH3	NANS	MEG3	GPKOW	BCOR	COL27A1	EMD	OCRL	CTBP1	RRAS2	METTL27	DVL3	STAG1	XYLT1	ORC6	WNT4	FGFRL1	TONSL	IPO8	SMOC1	CPT2	MRAS	COL7A1	PEX1	WNT7A	MAP2K2	PPP1CB	BCL7B	SMAD3	TPRKB	ERCC2	NCF1	HOXA13	MYH3	SUZ12	FBN2	NUP88	CRKL	SLC6A9	PIGV	L1CAM	SLC35D1	RECQL4	PORCN	TGFB3	KRAS	MUSK	HDAC8	SOS1	GPC6	DONSON	SLC26A2	MLXIPL	COL1A1	GMNN	PHGDH	BICRA	MAPK1	PQBP1	ASAH1	HEATR3	ROR2	COL9A3	SLC10A7	TBX2	NUP133	ANTXR2	COLQ	RAB3GAP1	HOXA11	FKBP10	DYSF	EIF4A3	SALL4	GLB1	TFAP2B	AEBP1	PRKCZ	SETBP1	TMEM222	EVC2	DLK1	POR	EMG1	PTEN	ORC1	FGD1	ALX1	GLI1	BUD23	NUP107	GNE	CRLF1	PYROXD1	COL6A3	KMT2B	NOTCH2	NOD2	BANF1	MAP2K1	CLCF1	LAMB2	LIFR	TPM3	LMBRD2	HINT1	UBE4B	FERMT1	SCYL2	PIGA	ERCC1	ACTG2	PPP2R3C	IDS	NPR2	SYT2	NF1	TBX15	DDR2	AIFM1	IDUA	RIPPLY2	GALNS	TMEM218	SLC34A3	B3GAT3	RAPSN	DHCR24	ANAPC1	LARGE1	LMX1B	NONO	KRT14	EXTL3	CHRNG	HLA-DRB1	HES7	TP63	CASZ1	COL11A1	IDH1	LEMD3	FBXO28	PLOD1	KIAA0319L	PIGL	COL11A2	UBA1	TGDS	MMP2	DMD	CCN2	ZMPSTE24	MED12	GJA1	RRAS	ALG3	RIT1	KDM5B	PIEZO2	CD96	ORC4	SLC35A3	ZDHHC9	CYP26B1	PSMD12	TBX3	PRDM16	MET	SH3PXD2B	ASXL3	HRAS	PCNT	APC2	RTL1	PDPN	ATR	ANO5	GLE1	CLIP2	HACD1	MESP2	MYBPC1	LAMA2	ENPP1	CYP2R1	ACTA1	PAX3	SOX9	TBX5	TWIST2	CPLX1	MYL1	CSGALNACT1	MORC2	EXT2	NRAS	RTTN	GNB2	CLCN5	CDC45	CCR6	COLEC10	NSD2	OSGEP	SPRED2	ALG12	DMP1	TNNT3	MBTPS1	SCARF2	PITX1	CHST3	PIGY	PTRH2	B3GLCT	MMP23B	BPTF	RMRP	ELN	UFSP2	SF3B4	SVIL	AKT1	EP300	XRCC2	MYOT	ERLIN2	RSPO2	CCN6	TBC1D2B	COL25A1	SIL1	EXT1	SLC29A3	LBR	LFNG	TLK2	UROS	SNRPB	AMER1	RSPRY1	VDR	CD247	ADAT3	SMAD6	MAP3K20	ITCH	ABCC6	RPL10	CLCN3	AFF3	COG5	MYOD1	EXOC6B	POP1	CCBE1	FAT4	TGFBR1	SPEN	SYNE2	ECE1	SMG9	ARID1B	SIK3	SLC39A13	EFNB1	GTF2IRD1	H4C9	GNS	FGF16	EBP	TRPS1	SRD5A3	IHH	FGFR1	MYL11	COL12A1	SLC34A2	ECEL1	KY	CTDP1	TMEM70	BGN	MACROH2A1	ANKRD55	PSMB8	GDAP1	LUZP1	ARPC4	RFC2	WDR4	TBL2	IL2RB	GTF2I	CNTN1	GHR	TRAPPC2	STAT4	KCNAB2	TFE3	TFAP2A	PI4KA	PEX2	SMARCAD1	EVC	ADAMTSL2	STX1A	AUTS2	DNAJC30	RERE	COL5A2	ASPH	BCR	NIPBL	CUL7	ZIC1	RAB23	SLC35A2	PTPN22	UPF3B	RAC3	RBM8A	SOS2	PYCR1	TOR1A	SMC3	EIF2AK3	EED	PLEKHG5	GLI3	RASA2	CAPN3	LGI4	PLOD2	TP53RK	CYP27A1	CADM3	SLC25A46	C19orf12	PEX5	PLOD3	GTF2IRD2	LIMK1	PSTPIP1	SLC18A3	MMP13	TMEM270	LAMB3	KCNK9	SIN3A	TBR1	DYNC2LI1	MED25	PIK3C2A	APC	FKTN	HEPHL1	PRKACA
HP_ABNORMALITY_OF_THE_ELBOW	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ELBOW	BRD4	EXTL3	SMAD6	ERCC6	MAP3K20	ITCH	ABCC6	MECOM	GDF5	MATN3	CLCN3	WNT7A	BMP1	GJB2	HS2ST1	TMEM43	SHOC2	B3GALT6	AFF3	LMNA	COL9A2	FLNA	EXOC6B	FBN1	POP1	COL2A1	ORC1	FBXO28	PTPN11	KRAS	BCOR	COL27A1	EMD	FGFR2	PLOD1	SYNE2	PRKAR1A	DVL3	SLC26A2	FZD2	STAG1	XYLT1	CDT1	ASXL1	UBA1	HDAC8	ORC6	TRPV4	SFRP4	WNT4	ARID1B	WNT5A	TBX3	TONSL	FHL1	SLC39A8	SLC39A13	DMD	CPT2	GNS	B4GALT7	GJA1	NALCN	COL6A1	CCDC8	OBSL1	RMRP	FGFR3	SKI	COL6A3	COL7A1	PEX1	UNC80	SMC1A	SRD5A3	LZTR1	CD96	FGFR1	MYL11	LARS2	COL12A1	ORC4	FBN2	HSPG2	MAP2K2	MAPK1	ECEL1	KY	JAG2	PPP1CB	CREBBP	CDC6	DDR2	DVL1	CYP26B1	VPS13B	BGN	MACROH2A1	COL6A2	CHRNG	MASP1	MYH3	PSMD12	CANT1	PSMB8	PRG4	ERGIC1	MAFB	LMX1B	SLC6A9	MET	MYL2	COLEC11	TPM2	HRAS	KMT2A	PCNT	RECQL4	CHST3	KDM5C	DYM	MUSK	TUBB3	SOS1	GPC6	GHR	TRAPPC2	ATR	ANO5	DONSON	GLE1	GNB1	MED12	TFE3	COL1A1	FLNB	HACD1	GMNN	TFAP2A	COL9A1	FGF9	PEX2	ASAH1	LAMA2	ROR2	ENPP1	HEATR3	LIFR	SRY	ACTA1	COL9A3	SOX9	RAD21	TBX5	RNU4ATAC	ESCO2	MYL1	CSGALNACT1	OPA3	ABCC9	CUL4B	COL5A2	ASPH	SPRTN	NIPBL	STXBP1	SRCAP	CUL7	PTDSS1	GNB2	CDC45	BRAF	HOXA11	COLEC10	FKBP10	DYSF	GSC	SALL4	AEBP1	TMEM222	ATP7A	SPRED2	EVC2	NOG	CBL	POR	PYCR1	GRB10	TOR1A	SCARF2	RAF1	PITX1	SMC3	PIGY	TBX15	LRP4	GLI1	IL6ST	NUP107	KIF22	B3GLCT	SELENON	SF3B4	SYNE1	CAPN3	SHOX	BPTF	NOTCH2	BANF1	SMOC1	ERCC1	LGI4	SVIL	MAP2K1	COMP	PLOD2	ALDH18A1	EP300	CLCF1	CYP27A1	TPM3	LMBRD2	MYOT	ERLIN2	RSPO2	SLC25A46	SCYL2	PEX5	CCN6	PIGA	PLOD3	MAP3K7	PSTPIP1	COL25A1	PPP2R3C	NPR2	SYT2	NXN	ITGA7	MMP13	SIL1	NF1	SLC29A3	LBR	CRLF1	KCNK9	IFITM5	EZH2	IDUA	GALNS	B3GAT3	DYNC2LI1	HNRNPH1	PIK3C2A	SNRPB	APC	LARGE1	COL5A1	FDFT1	HEPHL1	PTH1R	RSPRY1	EVC	PRKACA	P4HTM	PRKACB
HP_APLASIA_HYPOPLASIA_OF_THE_EXTREMITIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_EXTREMITIES	MGP	COL2A1	MECOM	POU1F1	LRP4	GDF5	BHLHA9	CUL4B	IFT43	CDKL5	HOXD13	ZBTB20	LMNA	GPC4	LBR	KYNU	ZNF699	HYLS1	EP300	PIGY	BMP4	SMARCB1	RNU4ATAC	LMNB2	RMRP	SALL4	GNPTAB	CAMK2A	PRKAR1A	FZD2	CDT1	MEGF8	TRPV4	NSD2	SLC26A2	ZMPSTE24	SHH	TCTN3	ADA2	SLC39A8	DYNC2H1	KCNN3	TAPT1	RPS28	CHSY1	MECP2	TRAF3IP1	DOCK6	CCDC8	COL10A1	IDH1	OBSL1	RBM10	STAMBP	UNC80	FANCC	HNRNPR	ARID1B	TMEM67	ZNF407	KCNJ2	PALB2	COL1A2	PTH1R	TWIST2	RPS29	TP63	CREBBP	POLR3A	CDC6	SATB2	BRCA2	DDRGK1	DHODH	DVL1	NOTCH1	FGF9	RPL35A	RPS6KA3	CHN1	CFAP410	PIGN	NOG	PSMD12	FGFR3	MAP3K20	KAT6B	RPL26	PRG4	BMPR1B	FGF10	PIGQ	SCUBE3	GNAS	BPNT2	LONP1	C12orf57	DYM	RUNX2	KMT2A	HSPG2	KDM5C	CSPP1	ARID1A	COG1	LHX3	MAD2L2	CHD7	SLC39A13	MAP3K7	WAC	SMC1A	LTBP3	RECQL4	BRIP1	EXT2	COL9A1	DHCR24	TBCE	TRRAP	DLX5	LMBR1	MAFB	NDN	SIK1	ALOXE3	WNT10B	FBN1	PTHLH	SRY	GNAS-AS1	RAD21	GNA11	PCGF2	FLNB	LETM1	MYCN	SNORD115-1	PIGB	CAMTA1	NGLY1	KDM6A	GABRD	STXBP1	B9D1	EDA2R	LAS1L	ADNP	SHOX	NBAS	SLC25A24	GALNT2	GHR	RIPK4	IGF1R	UBR7	FBXW4	GRM7	HDAC4	MEIS2	ABCC9	GSC	INTU	KMT2D	SALL1	TCF4	FLNA	WNT5A	RBPJ	RSPO2	KIAA0586	MEG3	RB1	GPC3	FANCI	WNT3	RAG1	KIF22	HESX1	PRMT7	WDR35	PLXND1	VPS13B	CANT1	MAPK8IP3	RFWD3	VAC14	ASXL1	RPS15A	PRKACA	CCDC28B	MBTPS2	DVL3	ACAN	IFT122	ZMIZ1	WASF1	NOTCH2	PHF6	FLI1	SON	EVC2	IFT140	MCTP2	TMEM53	LZTFL1	DYRK1A	NXN	GJA8	PIGO	ZIC3	PAM16	SOX11	SNRPN	MAGEL2	IGF2	KCNH1	SRCAP	COMP	MASP1	IFT80	TRIP11	SOX9	MMP13	MATN3	PTDSS1	SLC35D1	SIM1	TRIO	PIK3CD	ACVR1	ATP7A	CNOT3	ESCO2	IKBKG	PRKACB	VPS35L	BRD4	PPM1D	GRIP1	NEK1	HBA1	ACP5	FGFR2	B3GALT6	MMP9	MKRN3	FGFR1	PEX7	COL9A2	ERCC4	HMGA2	KCNJ5	GLI3	NANS	IFT52	XRCC4	BCOR	CTBP1	AMMECR1	GATA1	MBD5	XYLT1	DPH1	SATB1	ORC6	INPPL1	TGFB1	FGFRL1	TONSL	SMOC1	PEX5	GJB2	COL11A2	CCDC47	H4C3	SLC25A22	RTL1	WDR81	TRPS1	PIK3R1	GNAO1	CHD4	CPLX1	FANCL	JAG1	WNT7A	DLL4	SLC6A17	IFT81	HOXA13	FAM20C	MYSM1	CRKL	PIGV	EOGT	EN1	SIN3A	TBX22	ARX	NKX2-6	SMAD4	ACTB	ARCN1	WDR19	KDM1A	PPIB	UBE2A	CHUK	HDAC8	KIF7	GPC6	SUFU	PIGG	DONSON	ALG13	BPTF	HERC2	SMARCC2	CRTAP	GMNN	PHGDH	BICRA	MAPK1	RPL18	CEP120	ALG6	ATP6V1B2	XRCC2	ASAH1	RPL31	HEATR3	OCA2	ROR2	NIN	COL9A3	TBC1D24	SLC10A7	NSUN2	SCN1B	PCNT	STX16	EPS15L1	ANTXR2	MYH3	RPS19	TNFRSF11A	EIF4A3	OFD1	TFAP2B	PRKCZ	SETBP1	HDAC6	DNMT3A	CAMK2G	SOX4	DLK1	RAD51C	AGPS	TWIST1	COL11A1	POR	RAG2	PUF60	SF3B4	RPL10	ORC1	FGD1	SLC35C1	KCNJ8	FANCF	GLI1	DCHS1	NFIX	PITX1	CTC1	SMO	PGAP2	CERT1	MET	TBX4	TNNI2	DPM1	RPS20	MIA3	CDKN1C	SH3PXD2B	SEMA5A	CWC27	GJA5	TBL1XR1	UBE2T	LIFR	FANCM	HINT1	UBE4B	FERMT1	PIGW	RPS17	PPP2R3C	SERPINH1	NPR2	DPF2	TBX15	COL1A1	DDR2	USP9X	RNF2	NEUROD2	ORC4	B3GAT3	FANCE	GAD1	PUM1	FANCG	EFNB1	ANAPC1	BBS1	LMX1B	PORCN	TBCK	CTSK	FANCB	FBXL4	HTT	CUL7	ARSL	KIAA0753	IFNGR1	CASZ1	WIPI2	DYNC2I1	FBXO28	SMARCE1	EXTL3	DPYD	RPS24	FBXL3	EVC	SPECC1L	DHCR7	GLB1	RPS27	RSPRY1	SMARCA4	LIG4	ALOX12B	GJA1	NALCN	CREB3L1	KAT6A	GPX4	TTC21B	SCN2A	BMP2	CD96	LAMA5	MTX2	ALG12	DYNC2I2	ASXL2	PCYT1A	PLCB3	CHRNG	TBX3	AP1G1	PRDM16	KNSTRN	PIGF	DMXL2	PTCH1	RPL5	ADAMTS2	PDPN	WRN	PRKG2	FANCA	PHYH	INPP5K	ATR	SMARCD1	CHST11	PDE4D	TNFRSF11B	FIG4	KLHL15	DLX6	IDUA	SVBP	TBX5	KDM4B	CSGALNACT1	DYNC2LI1	PWRN1	MED12	ADA	GNB2	MIR140	CDC45	PWAR1	CLPB	FKBP10	CNOT2	BRCA1	PDE3A	RAC1	CDK10	TNNT3	ARHGAP31	SCARF2	P3H1	REV3L	GABBR2	CHST3	CENPE	B3GLCT	PIGT	CCDC22	MMP23B	ALDH18A1	AFF4	KRAS	FTSJ1	KIFBP	POLA1	FUT8	TPM2	IFT57	NTNG1	CASK	IHH	SIL1	CCN6	HUWE1	COG4	HBA2	EXT1	CLCN7	SMARCA2	GGCX	EZH2	PIGP	BRF1	EDA	SNRPB	CILK1	RPS7	AMER1	CCNQ	DACT1	POLE	FMR1	SPART	ACTL6B	AFF3	CTNND2	FN1	RPS26	POP1	FANCD2	IL7R	SLCO2A1	SPEN	SKI	ABCA12	SIK3	HPGD	MIR17HG	LTBP2	SEM1	PAPSS2	FGF16	EXOC6B	CEP57	EBP	POC1A	RAI1	RPL15	FAM50A	IL2RG	RPL11	CHRND	ALPL	MRPS28	MAB21L2	GLUL	IFT172	MAPRE2	RBBP8	RPL27	TRIM8	BGN	MACROH2A1	BTRC	AIFM1	FBXO11	SLX4	LUZP1	KIF5C	RPS10	NHS	NEPRO	COL3A1	CDH11	TUBB3	TRAPPC2	YY1AP1	KCNAB2	PROP1	CCBE1	PIK3C2A	ZMYM2	TFAP2A	NELFA	HHAT	ADAMTSL2	KCNA1	B2M	NPAP1	PTCH2	ALMS1	CDC42BPB	RERE	GNPAT	ASPH	BCR	NIPBL	DYNC1H1	LHX4	SNIP1	RAB23	TELO2	PLAG1	SNORD116-1	SLC35A2	SUCLG1	RBM8A	ARL6	TSR2	RAB33B	PDHA1	SMC3	EIF2AK3	PRIM1	KIF15	USP7	ZSWIM6	IRX5	ARL6IP6	ADAMTS10	GJB6	CPLANE1	PKDCC	ARID2	RAB3GAP2	FRAS1	DCLRE1C	ANKRD11	MSL3	PGAP3	PIGL	CRIPT	FAT4	GRIN1	CRLF1	WLS	CHRNA1	MTOR	RPL35	NSDHL	COX4I1	PIGS	APC	CUL3	ALG9	CLTCL1	IDH2	HEPHL1	RAD51	HRAS	PNKP
HP_LOWER_LIMB_UNDERGROWTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_LIMB_UNDERGROWTH	ALPL	GNA11	CHUK	MMP13	COL2A1	SLC26A2	SHOX	LAMA5	FN1	PPIB	PAPSS2	EXT1	ARL6IP6	EXT2	NOG
HP_APLASIA_INVOLVING_BONES_OF_THE_LOWER_LIMBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_INVOLVING_BONES_OF_THE_LOWER_LIMBS	BMPR1B	GLI3	LMBR1	PITX1	EOGT	CHD7	DYNC2H1	LMNA	KCNN3	VAC14	GDF5	FIG4	ATP7A
HP_UPPER_LIMB_UNDERGROWTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_LIMB_UNDERGROWTH	VPS35L	B2M	TBX5	FANCB	LRP4	GDF5	WNT7A	UBE2T	NIPBL	CUL7	HYLS1	EXT2	SHOX	COL2A1	RPS19	MEG3	SALL4	EIF4A3	SLC26A2	NOG	RBM8A	BRCA1	DLK1	RAD51C	TBX3	SF3B4	DONSON	DYNC2H1	SCARF2	FN1	FGFR2	FANCF	CHST3	FANCI	CCDC8	OBSL1	EXOC6B	RBM10	PIGT	ESCO2	RFWD3	JAG1	DPM1	IHH	PALB2	BPTF	AFF4	BMPR1B	ALG12	BRCA2	DHODH	IFT81	XRCC2	CHN1	FANCM	PRKAR1A	FGFR3	PSMD12	SLX4	PDE4D	RPL26	FGF10	ERCC4	FANCL	RTL1	NPR2	LBR	FANCD2	EXT1	RECQL4	CHUK	MAD2L2	CHD7	FANCA	ATR	TRIP11	FANCE	FANCG	APC	BRIP1	CCNQ	RAD51	MAFB	FANCC	ROR2
HP_APLASIA_INVOLVING_BONES_OF_THE_EXTREMITIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_INVOLVING_BONES_OF_THE_EXTREMITIES	BMPR1B	LMBR1	SHH	XRCC2	CHD7	DYNC2H1	LMNA	KCNN3	NSDHL	FGFR2	FIG4	ATP6V1B2	GLI3	FANCD2	PITX1	EOGT	GJA1	TRIO	VAC14	IFT140	GDF5	MEGF8	ATP7A
HP_LIMB_UNDERGROWTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_UNDERGROWTH	BMPR1B	VPS35L	BRD4	NEK1	CTSK	FANCB	IFT122	LRP4	GDF5	HSPG2	MATN3	WDR19	WNT7A	ACP5	IFT43	UBE2T	TRIP11	AFF3	FGFR2	LBR	KYNU	COL9A2	HDAC6	ACAN	ZNF699	HYLS1	COL11A1	GLI3	COL2A1	MEG3	RNU4ATAC	IFT52	DYNC2I1	XRCC4	EXTL3	SALL4	DPYD	DVL3	IFT140	SLC26A2	FZD2	WDR35	COL11A2	HDAC8	DHCR7	GLB1	INPPL1	TCTN3	SIK3	WNT5A	TBX3	TONSL	SLC39A8	DYNC2H1	TAPT1	PAPSS2	CREB3L1	CCDC8	GPX4	COL10A1	IDH1	TTC21B	OBSL1	EXOC6B	CEP57	EBP	IFT80	FGFR3	POC1A	RBM10	SMC1A	DYM	CD96	LAMA5	JAG1	DPM1	IHH	PALB2	COL1A2	ALPL	ALG12	MAB21L2	DYNC2I2	GLUL	IFT172	BRCA2	DDRGK1	DHODH	IFT81	DVL1	PCYT1A	PLCB3	CHN1	CFAP410	FAM20C	PEX7	MYSM1	NGLY1	PSMD12	FGFR1	RPL26	SLX4	FGF10	PTH1R	KIAA0586	RAD51C	ACTB	ARCN1	FLNB	FANCD2	KMT2A	PPIB	SLC35D1	RECQL4	CHST3	CSPP1	CHUK	COG1	ADAMTS2	FANCF	MAD2L2	CHD7	PRKG2	FANCA	KIF7	GPC6	FANCI	ATR	DONSON	SHOX	PDE4D	LTBP3	BRIP1	CRTAP	PHGDH	COL9A1	CEP120	DHCR24	RFWD3	MAFB	XRCC2	HHAT	ROR2	LIFR	NIN	B2M	COL9A3	CDKN1C	RAD21	GNA11	TBX5	CSGALNACT1	PCNT	GNPAT	NIPBL	DYNC2LI1	ANTXR2	CUL7	RIPK4	EXT2	B9D1	NBAS	GHR	MMP13	RPS19	GSC	EIF4A3	CLPB	EVC2	NOG	RBM8A	BRCA1	FLNA	DLK1	AGPS	RAC1	PUF60	SF3B4	PDHA1	SCARF2	SMC3	SLC35C1	FN1	PIGY	TBX15	GLI1	KIF15	B3GLCT	SMO	PIGT	ESCO2	PRKACB	ASXL1	BPTF	RMRP	AFF4	ARL6IP6	PRKACA	LONP1	MBTPS2	PKDCC	FUT8	FANCM	PRKAR1A	ERCC4	FANCL	RTL1	SERPINH1	NPR2	NXN	EXT1	PAM16	COL1A1	DDR2	MTOR	COMP	GNAS	B3GAT3	FANCE	GAD1	FANCG	EFNB1	APC	ALG9	CILK1	CLTCL1	IDH2	TRPV4	CCNQ	RAD51	HRAS	TBCK	POLE	FANCC	EVC
HP_PHOCOMELIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHOCOMELIA	SF3B4	RBM8A	TBX5	WNT7A	ESCO2	NIPBL	LBR	LMBR1
HP_PERIPHERAL_NEUROPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_NEUROPATHY	AMPD2	IGHMBP2	MT-ND4	WIPF1	PNPLA6	ARSB	NDUFA9	IARS2	MYOT	SPG7	NEMF	MTMR14	HSPB1	MT-ATP6	DEAF1	MT-ND2	MFN2	IDS	PDSS1	PDYN	ALS2	FBN1	PMP22	DNAJC3	RNASEH2C	SPG11	MT-ND1	CYP2U1	VPS41	OPA1	NEFL	PNPT1	LDB3	MT-CO3	NDUFS7	PDX1	MT-ND6	HFE	PLOD1	FMR1	DGUOK	PEX10	ATL1	SYNE1	UBA1	TRPV4	ERBB2	ATP5F1E	RRM2B	COQ7	MYD88	SPTLC1	NDUFA13	DNMT1	AAAS	SH3TC2	MT-TL1	MORC2	NDUFB8	SLC25A46	COX15	LETM1	KLC2	IDUA	BSCL2	ATP7B	GALC	GRM1	DHH	SEPTIN9	GNPTAB	REEP1	HADHA	NDUFA2	COMP	SMC1A	NDRG1	POLG	TWNK	NDUFA12	RNASEH2B	PRPS1	TBCE	NRCAM	TOP3A	FLRT1	HLA-DQB1	NDUFAF2	HK1	ERCC5	EXOSC9	KIF1A	NARS2	PRTN3	MT-ND5	DST	ATP13A2	TTR	GLE1	SLC30A10	FDX2	AARS1	AMACR	XK	ERCC8	SCYL1	RMND1	PSAP	FA2H	GNAS	HLA-DPB1	B2M	LYST	FLII	ACOX1	WARS1	ARL6IP1	ATAD3A	CYP27A1	TRIM2	HNRNPA2B1	XPC	AIFM1	WAS	GTF2E2	RNU7-1	NF2	RETREG1	NAGA	DEGS1	NDUFA10	PEX12	MT-ND4L	ABCA1	VCP	PIK3R5	COA8	EGR2	LRPPRC	CYP7B1	PHYH	MME	INPP5K	RAI1	TDP1	ABHD12	CLP1	SCO2	MT-TS2	ATP6V1B2	MPC1	MRE11	NDUFS3	CTDP1	ERCC3	GJB1	VWA1	PEX6	MT-TQ	LAMA2	NDUFA4	COA7	KRAS	MYH14	GBA2	RAD21	SOX10	ATL3	DHX16	SLC25A4	BMP6	GBE1	KCNJ10	SPTBN1	PIGB	SLC52A3	NGF	NGLY1	FAH	AP1S1	AGTPBP1	GARS1	TTPA	ARSA	SPTBN4	MPV17	PRF1	GNB2	ALAD	COASY	COX20	TYMP	KLHL9	DDB2	FUCA1	NDUFV1	AFG3L2	ERCC2	ABCD1	SERPING1	AP5Z1	VPS13D	SLC25A1	SLC19A3	CHAT	PDHA1	LIG3	FXN	SURF1	CISD2	KRT14	ERCC6	HSPB3	MTRFR	PLP1	NDUFAF3	PTPN22	MT-TV	ATXN10	LSM11	NDUFS8	INF2	PEX11B	HSPB8	ATXN1	PPOX	PLEKHG4	FGF14	MT-TE	ALDH4A1	CCT5	ALDH18A1	DSTYK	PDK3	DARS2	HLA-DQA1	PET100	MT-CYB	HMBS	SLC52A2	MPZ	NOTCH2	AP1B1	PHF6	MICU1	PRKAR1A	PIEZO2	KCNJ11	CRAT	MARS1	SLC25A19	POLR3A	SIL1	MTRR	DNM1L	CPOX	ARSI	ERBB3	NAGLU	SCN10A	HARS1	C19orf12	MT-TF	PMPCA	CAPN1	RFC1	PRICKLE1	PPP2R2B	DNM2	ATXN3	HLA-DPA1	ELOVL5	TUBB3	B4GALNT1	HINT1	ELP1	HLA-B	SYT2	NDUFS4	MCM3AP	ASCC1	COX6A1	P4HA2	NDUFAF5	COG8	PLA2G6	GSN	PLD3	XRCC1	HSD17B4	GDAP1	ATXN8OS	DNASE1L3	BRD4	UNC13D	PNKP	NDUFV2	ADAT3	CD28	CPSF3	GCDH	GJC2	CTLA4	SACS	VRK1	KIF5A	PEX7	SPTLC2	CACNA1A	RNF170	FBLN5	XRCC4	TIMM8A	COL13A1	SLC12A6	TRIP4	TTBK2	RAB18	TNFRSF1B	UCHL1	DMXL2	HDAC8	NEFH	ACO2	TGFB1	SDHA	NDUFS2	MT-TH	BAG3	PEX5	GJB2	HLA-DRB1	POLR3B	KARS1	SHMT2	RAB7A	PMM2	DKK1	NARS1	CLCN6	STXBP2	IRF4	UQCRC1	ERCC4	HADH	MT-CO1	SLC5A7	VPS13A	ATP1A3	EDNRB	GTF2H5	HEXB	EXOSC8	TBC1D20	MTFMT	NAGS	SLC46A1	TMEM70	SETX	VAMP1	DYNC1H1	RAB3GAP2	SCP2	IQSEC2	IBA57	MPLKIP	WFS1	FOXRED1	SAMD9L	TBCD	MT-TK	TFG	AHCY	SCN11A	SCN9A	ZFYVE26	POLG2	LITAF	ELOVL4	ABCC8	TREX1	AR	MOGS	BIN1	MYO9A	TXN2	TBC1D24	CTSD	NDUFS1	STAT3	SGPL1	LIPT1	RNASEH2A	SPG21	ERLIN2	SLC18A3	TIMMDC1	ACER3	RYR1	RNF220	LMNA	DNAJC30	ATP1A1	TACO1	TRMT5	EXOSC3	XPA	ZFR	MAG	MANBA	TARS1	SMPD1	INSR	TPI1	SMC3	DDHD1	CARS1	HNRNPA1	IFRD1	STX11	GAN	SNAP25	NOTCH3	SELENOI	SNAP29	AGXT	GCK	SLC5A6	OSTM1	DCAF8	DPM1	GJB6	TRAPPC11	TNXB	WNK1	TMPRSS6	RAB3GAP1	RNF113A	CLCF1	GCLC	NDUFAF6	KIF1C	MYF6	RNF168	CADM3	AGRN	MT-CO2	RPIA	PDE4D	NIPBL	PLXNA1	MT-TW	HSD3B7	HYCC1	IFIH1	ERCC1	WDR48	ATP11A	ADA2	PEX16	NF1	SAMHD1	ADAR	MT-ND3	CD59	HADHB	INS	KCNK9	MFF	EMILIN1	COA3	PEX1	RNASEH1	BRAF	ECHS1	TK2	APTX	PSMC3	SUCLA2	KIF1B	GMPPA	BTNL2	KRT5	CA2	MTHFR
HP_ABNORMAL_DISTAL_PHALANX_MORPHOLOGY_OF_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DISTAL_PHALANX_MORPHOLOGY_OF_FINGER	VPS35L	PIGN	HOXD13	EOGT	MGP	CTSK	IARS1	IFT122	ACP5	HS2ST1	ARSL	FGFR2	ACTL6B	ZBTB20	B3GALT6	LMNA	GPC4	LBR	FLNA	ZMPSTE24	COL2A1	PIGY	MEG3	RNU4ATAC	IFT52	CANT1	SMARCE1	AMMECR1	PIGV	IGF2	DLL4	ARID1B	GDF5	KCNN3	SMARCA4	DOCK6	NALCN	WDR35	SMARCA2	POC1A	STAMBP	UNC80	TRPS1	HNRNPR	IHH	JAG1	CHUK	MTX2	RBPJ	BMPR1B	CREBBP	MRPS28	DVL1	NOTCH1	RPS6KA3	MACROH2A1	HOXA13	NOG	TBX3	CRKL	KNSTRN	PIGF	GNAS	PIK3CD	WDR19	PCNT	PTCH1	KDM5C	ARID1A	TRPV4	FLNB	KCNH1	SUFU	PIGO	CHST11	GATAD2B	ATP6V1B2	DSP	RAB3GAP2	FIG4	MAPK1	ALG6	ROR2	PTHLH	FTO	TBC1D24	PTCH2	SETBP1	SPTBN1	PIGB	KIF7	BCR	EDA2R	SLC25A24	ABCC9	SALL4	COG4	SETD5	SOX11	EVC2	CWC27	DLK1	TWIST1	POR	WNT5A	CHST3	ARHGAP31	FN1	KCNJ8	GLI1	PAH	NFIX	PGAP2	CCDC22	KIF22	VAC14	RMRP	BANF1	COL10A1	PHF6	FTSJ1	COMP	RAB3GAP1	TFAP2B	LEMD3	EP300	GJA5	NOTCH2	IFT57	PITX1	PIGW	IFT43	MAP3K7	PGAP3	MCTP2	PPP2R3C	CRIPT	RTL1	NXN	SOST	GJA8	GPC3	LMBR1	DDR2	CLCN7	GGCX	WLS	SRCAP	MTOR	BRF1	EDA	LRP4	NSDHL	B3GAT3	DYNC2LI1	TGFBR2	SMARCB1	PIGS	EVC	PRKACA	PIGL	CTSC	PRKACB
HP_ABNORMAL_MIDDLE_PHALANX_MORPHOLOGY_OF_THE_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MIDDLE_PHALANX_MORPHOLOGY_OF_THE_HAND	MYCN	BMP2	MECOM	GDF5	NOG	HOXD13	KDM6A	KMT2D	FIG4	PTDSS1	GNB2	FGFR3	COL2A1	BMP4	RAB23	LMNA	TRPV4	TFAP2B	GMNN	IGF2	IFT140	MBD5	SLC26A2	MEGF8	CHSY1	MIR17HG	PUF60	WNT5A	EIF2AK3	FGFR2	GJA1	HOXA13	TRPS1	NFIX	BHLHA9	IHH	FGFR1	VAC14	COL10A1	PTH1R	PHF6	BMPR1B	POLA1	NPR3	RBBP8	DVL1	IFT57	INTU	KNSTRN	PIK3CD	RUNX2	PCNT	GATA1	SRCAP	NEPRO	NSDHL	PDE4D	ATP6V1B2	PQBP1	NONO	KMT2A	ROR2	NIN
HP_ABNORMAL_PROXIMAL_PHALANX_MORPHOLOGY_OF_THE_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PROXIMAL_PHALANX_MORPHOLOGY_OF_THE_HAND	TRPS1	BMPR1B	CREBBP	SHH	NPR3	CHSY1	CDKL5	FGFR3	GDF5	MTOR	XRCC2	NOG	FIG4	COL10A1	KIF15	FLNB	COL2A1	FANCD2	RAB23	GNAS	BHLHA9	IHH	TRIO	KIF22	LMBR1	VAC14	ROR2	EP300
HP_APLASIA_HYPOPLASIA_OF_THE_DISTAL_PHALANGES_OF_THE_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_DISTAL_PHALANGES_OF_THE_HAND	VPS35L	PIGN	HOXD13	EOGT	TBC1D24	PTCH2	MGP	IFT122	SETBP1	ACP5	NOG	ARSL	PIGB	KCNH1	ACTL6B	ZBTB20	BCR	LMNA	GPC4	LBR	FIG4	FLNA	EDA2R	SLC25A24	COL2A1	PIGY	IFT52	ABCC9	SMARCE1	SALL4	TRPV4	WDR19	PIGV	COG4	IGF2	SOX11	DLL4	EVC2	CWC27	ARID1B	ZMPSTE24	POR	RBPJ	ARHGAP31	KCNN3	FN1	KCNJ8	SMARCA4	CHST3	DOCK6	GLI1	WDR35	SMARCA2	NFIX	POC1A	STAMBP	TRPS1	PGAP2	HNRNPR	IHH	CCDC22	JAG1	VAC14	TWIST1	CHUK	MTX2	COL10A1	PHF6	FTSJ1	COMP	BMPR1B	GJA5	NOTCH1	NOTCH2	RPS6KA3	IFT57	HOXA13	DVL1	TBX3	CRKL	PIGW	IFT43	KNSTRN	MAP3K7	PIGF	PIK3CD	PGAP3	MCTP2	CRIPT	NXN	GJA8	PIGO	GPC3	PCNT	PTCH1	KDM5C	CLCN7	GGCX	ARID1A	MTOR	BRF1	FLNB	EDA	NSDHL	SUFU	GNAS	GDF5	CHST11	DYNC2LI1	TGFBR2	SMARCB1	PIGS	ATP6V1B2	MAPK1	ALG6	ROR2	EVC	PRKACA	PIGL	PTHLH	PRKACB
HP_BROAD_DISTAL_PHALANX_OF_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_DISTAL_PHALANX_OF_FINGER	CREBBP	DLK1	SMARCA2	FGFR2	WLS	GNAS	EP300	IFT122	GPC4	HOXD13	FLNB	HS2ST1	CHST3	B3GALT6	B3GAT3	GATAD2B	SETD5	MEG3	RNU4ATAC	WDR19	AMMECR1	RTL1	KIF22	FLNA
HP_OSTEOLYTIC_DEFECTS_OF_THE_DISTAL_PHALANGES_OF_THE_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOLYTIC_DEFECTS_OF_THE_DISTAL_PHALANGES_OF_THE_HAND	ZMPSTE24	CTSK	LMNA	MTX2	BANF1
HP_APLASIA_HYPOPLASIA_OF_THE_MIDDLE_PHALANGES_OF_THE_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_MIDDLE_PHALANGES_OF_THE_HAND	BMPR1B	POLA1	MYCN	RBBP8	BMP2	DVL1	MECOM	GDF5	GJA1	IFT57	HOXA13	HOXD13	KDM6A	KMT2D	FIG4	PTDSS1	INTU	GNB2	FGFR3	COL2A1	BMP4	RAB23	NOG	LMNA	TRPV4	TFAP2B	GMNN	IGF2	IFT140	MBD5	RUNX2	SLC26A2	PCNT	MEGF8	GATA1	SRCAP	NEPRO	MIR17HG	IHH	PUF60	WNT5A	NSDHL	EIF2AK3	FGFR2	PDE4D	ATP6V1B2	FGFR1	BHLHA9	VAC14	KMT2A	ROR2	COL10A1	PTH1R	NIN	PHF6
HP_SYMPHALANGISM_OF_MIDDLE_PHALANX_OF_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYMPHALANGISM_OF_MIDDLE_PHALANX_OF_FINGER	NONO	TFAP2B	BHLHA9	GDF5	ROR2	NOG	PQBP1
HP_APLASIA_HYPOPLASIA_OF_THE_PROXIMAL_PHALANGES_OF_THE_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_PROXIMAL_PHALANGES_OF_THE_HAND	BMPR1B	KIF15	SHH	COL2A1	FANCD2	FGFR3	GDF5	MTOR	XRCC2	TRIO	IHH	LMBR1	VAC14	FIG4
HP_SIMPLIFIED_GYRAL_PATTERN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SIMPLIFIED_GYRAL_PATTERN	PNKP	ARID2	ASPM	STIL	TRAIP	PSAT1	GFM2	LMNB2	LMNB1	VLDLR	CUL4B	MPDZ	OSGEP	IER3IP1	SON	PDCD6IP	RTTN	FOXG1	KIF11	KIF14	DYNC1I2	SMARCB1	QARS1	XRCC4	CASK	C2CD3	MAST1	PPIL1	GMNN	DPF2	KATNB1	TMEM222	MED27	SOX4	CDK5RAP2	SMARCE1	SOX11	SPOP	NSRP1	ARID1A	CEP152	TSEN2	ZNF526	NDUFA6	TUBB3	SMARCA4	DONSON	WDR62	TTC5	CLP1	YRDC	COPB2	CDC40	PLK4	LIPT2	CDK6	FKRP	DCHS1	CENPE	ZNF335	SMPD4	SMARCC2	ASNS	PRKDC	EXOC7	TUBB2A	ARID1B	CIT	SMARCD1	ANKLE2	TUBGCP6	CSNK2A1	NDE1	ERCC1	AHDC1
HP_DUPLICATION_OF_THE_DISTAL_PHALANX_OF_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUPLICATION_OF_THE_DISTAL_PHALANX_OF_HAND	LMBR1	BMPR1B	PAH	LEMD3	TWIST1	GDF5	DVL1	CANT1	FGFR2	WNT5A	PPP2R3C	KIF7	ROR2
HP_TAPERED_DISTAL_PHALANGES_OF_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TAPERED_DISTAL_PHALANGES_OF_FINGER	DSP	UNC80	CTSC	NALCN	SPTBN1
HP_TRICHORRHEXIS_NODOSA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRICHORRHEXIS_NODOSA	SKIC3	CLCN6	SKIC2	KRT25	ASL	AARS1	MPLKIP	HEPHL1	SPINK5	ERCC2	GJA1	GTF2H5
HP_ABNORMALITY_OF_HAIR_PIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_HAIR_PIGMENTATION	UBE3A	LAMTOR2	EDNRB	PAH	SNRPN	PRDM5	LMNA	OCA2	PARN	DSTYK	MKRN3	PRKAR1A	ZNF699	STN1	TYR	PAX3	MITF	TERT	SOX10	RAB27A	SALL4	ERCC6	TERC	AP3D1	IFT140	KRT71	ELN	BRCC3	CLCN7	CTNS	MAGEL2	HPS6	POMC	DHCR7	SNAI2	KIT	NHP2	BLOC1S5	HPS4	NOP10	ABCA2	RMRP	RTEL1	TINF2	AP3B1	TGM3	KITLG	KRT25	CHN1	TYRP1	MLPH	PSMB8	EDN3	ERCC8	HPS1	WDR45	UBR1	USB1	CTC1	DKC1	TMCO1	PADI3	ZNF469	BLOC1S3	WRN	ATP10A	NPM1	LRPPRC	LPAR6	MLXIPL	ATP7A	RECQL4	HERC2	DTNBP1	PIGN	TP63	KANSL1	TFAP2A	EPG5	MAFB	MYO5A	NDN	SLC45A2	SLC17A5	ATM	NPAP1	SNORD115-1	MDM2	HPS3	PWRN1	LYST	SKIC3	WRAP53	LRMDA	PTPN22	SNORD116-1	PWAR1	KRT74	SKIC2	INSR	HRAS	TAFAZZIN	MTAP	DCT	GJB6	PDE4D	CACNA1F	HPS5	TYMS	GNPTAB	MOGS	MC1R	FAS	LIPH	PCSK1	ACD	FGFR3	PEPD	FDFT1	SIM1	SLC5A6	RPA1
HP_ABNORMALITY_OF_SECONDARY_SEXUAL_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SECONDARY_SEXUAL_HAIR	ZSWIM7	DMRT3	NR5A1	OTX2	GJB2	MDM2	AXL	ZBTB20	FEZF1	TBX3	PSMB8	AR	BNC1	PSMC3IP	LHX4	GLI2	NUP107	WT1	ZFPM2	CCBE1	MRPS22	SOX3	ADAMTS3	COL17A1	GNRHR	WDR11	NR0B1	ITGB4	MAP3K1	FAT4	PPP2R3C	PROP1	SPRY4	DSC3	LSS	SNRPE	VAMP7	DHX37	DUSP6	FOXL2	LPAR6	LIPH	HLA-DRA	HESX1	APCDD1	BMP15	POLR3H	APOE	GATA4	ANOS1	LHB	GNRH1	CYP17A1	SRA1	SRY	GJB6	SPIDR	ORC6	EPS8L3	WWOX	FSHR	AXIN2	POU1F1	FOXA2	TP63	FGF17	SOX9	CYB5A	CCDC141	SEMA3E	HR	FSHB
HP_LOCALIZED_HIRSUTISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOCALIZED_HIRSUTISM	CREBBP	WASHC4	DLK1	WNT4	ARID1B	CKAP2L	TASP1	CPOX	EP300	MEG3	RPL10	PPP1R21	FLNA	RTL1	TP63	GNS	AFF4	SLC25A12	PEPD	TBX15
HP_HIGH_ANTERIOR_HAIRLINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_ANTERIOR_HAIRLINE	LRP2	CCNK	SLC9A7	STT3A	CLCN3	TBL1XR1	SPECC1L	HS2ST1	NSD1	DHX30	NOVA2	LETM1	DPH2	SMO	MED12	ADNP	GNB2	RERE	DLX4	STAG2	FGD1	GMPPA	MEIS2	ANKRD17	SIN3A	H4C5	PIGK	CDH1	HYOU1	CWC27	SATB1	NSD2	ALX3	WNT4	SETD2	NEPRO	SOS1	PEX1	EFNB1	IFIH1	KCNH1	ALX1	GDF11	PIGG	SLC35C1	SYT1	RALGAPA1	DEAF1	KDM1A	THOC6	UGP2	PRKD1	ATP6V1B2	CPLX1	ADARB1	LMX1B	ZC4H2	BICRA	SPEN	NELFA	PEX6	MID1	CTBP1	TWIST1	HEATR3	H1-4	PPP1CB	FLNA
HP_UNDERDEVELOPED_SUPRAORBITAL_RIDGES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNDERDEVELOPED_SUPRAORBITAL_RIDGES	PEX6	GATA6	TBX1	LZTR1	HBA1	NSUN2	JAG1	PPP1R21	PEX19	PEX14	PEX16	PEX11B	TWIST1	ZIC1	SLC25A24	GDF1	KNSTRN	RAB23	KRAS	NKX2-5	PIK3CD	NEU1	PEX1	BRAF	KIF11	PEX12	HBA2	KDR	SOX11	MEGF8	SPOP	SKIC3	TCF12	PEX13	NKX2-6	SIK3	ZFPM2	FGFR2	MASP1	PEX3	GATA4	GHR	LIG4	PEX5	MYOD1	PEX10	FLT4	GJA5	MAP2K1	FGFR3	RBM10	PEX26	GATA5	PRMT7	ESCO2	TRAPPC9	ANTXR1	MAP2K2	PEX2	CITED2
HP_ANOTIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANOTIA	CDC6	FANCB	ORC6	CDC45	ORC1	GMNN	FANCL	POLR1D	HOXA2	POLR1A	ORC4	CDT1	SF3B2
HP_THICKENED_EARS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICKENED_EARS	PTCH1	ATP6V1B2	KCNJ11	ALMS1	KCNN3	NARS2	TAF1	PIGY	KCNH1	AFF4	ABCC8
HP_ABNORMALITY_OF_THE_CRUS_OF_THE_HELIX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CRUS_OF_THE_HELIX	GNAI3	EDN1	STEEP1	TWIST1	TCTN3	NSD2	FGFR2	FGFR3	HS2ST1	DHX30	PLCB4	ZNF462
HP_ABNORMAL_ANTITRAGUS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ANTITRAGUS_MORPHOLOGY	CHST3	RAB3GAP2	KCTD1	COL2A1	FN1	B3GAT3	PNPLA6	KAT6A	PIGK
HP_PROMINENT_CRUS_OF_HELIX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_CRUS_OF_HELIX	DHX30	STEEP1	TWIST1	NSD2	FGFR2	FGFR3	HS2ST1
HP_CRUMPLED_EAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRUMPLED_EAR	MESD	FBN2	TWIST1	FBN1	LONP1
HP_PROMINENT_EAR_HELIX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_EAR_HELIX	ZMPSTE24	ZMIZ1	LMNA	AFF2	DOCK7	PYCR1	ACBD5
HP_APLASIA_HYPOPLASIA_OF_THE_EARLOBES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_EARLOBES	CREBBP	POLR3A	ESCO2	HBA1	TRAIP	SEMA3E	SEC24C	VPS13B	EP300	PCNT	COL3A1	ATRIP	FLI1	CHD7	KCTD1	HIRA	PLK4	TBX1	ATR	FGFR2	HBA2	ABHD5	RBBP8	NUP85	COL2A1	GP1BB	ARVCF	EBF3	SMS	JMJD1C	SCARF2	SLC35C1	FN1	B4GALT7	RREB1	HNRNPH1	KAT6A	AHDC1	ZMYM2	HMX1	PTPRF	FIG4	ZNF407	RBM10	CENPE	CDC6	KMT2B	COMT	CENPJ	UFD1	CEP152
HP_ATTACHED_EARLOBE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATTACHED_EARLOBE	RDH11	HIVEP2	SMG9	NSD2	CDH11	HS2ST1
HP_ANTERIOR_CREASES_OF_EARLOBE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_CREASES_OF_EARLOBE	BRAF	GPC4	PRR12	GPC3	TBX1
HP_UPLIFTED_EARLOBE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPLIFTED_EARLOBE	AHDC1	ZEB2	MAPRE2	BMP4	EHMT1	KMT2C	TBL1XR1	CDC42BPB	PIGB	GRIA3	SIN3A	SMARCD1	TWIST1	PIGQ	IL1RAPL1	NR2F1
HP_ABNORMAL_TEMPORAL_BONE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TEMPORAL_BONE_MORPHOLOGY	FGFR3	CEP57	GDF6	GDF3	POR
HP_ABNORMAL_TRAGUS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TRAGUS_MORPHOLOGY	EFTUD2	KCTD1	GLI2	NUP188	DACT1	RNU4ATAC	SALL1	PIGN	SMCHD1	SF3B2	KAT6A
HP_APLASIA_HYPOPLASIA_OF_THE_TRAGUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_TRAGUS	EFTUD2	KCTD1	GLI2	NUP188	SMCHD1	SF3B2	KAT6A
HP_CYCLOPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CYCLOPIA	DISP1	SHH	FOXH1	FGFR1	ZIC2	FGF8	TDGF1	TGIF1	STIL	PLCH1	DLL1	GAS1	OTX2	PTCH1	SUFU	STAG2	NODAL	GLI2	CDON	SMC1A	SIX3	PRRX1
HP_ANISOCORIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANISOCORIA	SIN3A	AAAS	GMPPA	PMP22	TMEM67	SH3TC2	LOXL1	DDX6
HP_PERSISTENT_PUPILLARY_MEMBRANE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERSISTENT_PUPILLARY_MEMBRANE	CPAMD8	COL18A1	ADAMTSL4	ATOH7	GJA1	HRAS	FZD4	NDP	POMT2
HP_ECTOPIA_PUPILLAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTOPIA_PUPILLAE	CPAMD8	MAB21L2	ZEB2	FBN1	LETM1	CPLX1	TBX2	FOXC1	FGFRL1	PITX2	ZEB1	OVOL2	WT1	GRHL2	PCYT1A	COL4A1	CTBP1	ADAMTSL4	RHOA	NSD2	PAX6	VSX1	COL8A2
HP_APLASIA_HYPOPLASIA_INVOLVING_THE_NOSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_NOSE	EIF5A	HNRNPK	ESCO2	MGP	TWIST2	IARS2	ESS2	DGCR2	NOG	SPATA5	CENPJ	EXT2	PCNT	ALX1	BCR	OTX2	RIPK4	PTCH1	LMNA	STAG2	KCNJ6	PAX3	MITF	ASXL3	FRAS1	OFD1	GMNN	CTNNB1	EDNRB	SOX11	TAF6	FGF3	CWC27	MYO18B	EDEM3	H3-3A	MADD	PHF21A	DGCR8	TONSL	PYCR1	RDH11	SCARF2	DDB1	EDA	ANKRD11	HDAC4	ZMPSTE24	GJA1	WNT3	SMARCA2	TRPS1	ATP6V1B2	CKAP2L	DGCR6	PDE4D	PURA	NEXMIF	FREM2	HNRNPH2	TWIST1	SIX3	LMBR1	CREBBP	TGIF1	DDR2	MTX2	SMCHD1	FLNB	GRIP1	UBE2A	UBR1	MYH3	NSUN2	CRKL	MVK	EDN3	KANSL1	PRKAR1A	TBX1	NAA10	PRPS1	USH1G	PPP2R3C	DYRK1A	NALCN	TXNL4A	SCNM1	ALG9	RECQL4	TP63	COL3A1	MYMX	PRRX1	SRCAP	ALX4	NFIX	ORC4	SIN3A	GHR	SOX10	CLP1	RNU4ATAC	TRIO	PIK3R1	SLC37A4	BICRA	USB1	MAPK1	RSPO2	PLEC	PPP1CB
HP_EPIPHORA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIPHORA	SDHD	NDP	SREBF1	KRT12	LRP1	NHP2	DKC1	NOP10	SLC39A14	OVOL2	FGFR3	COL17A1	ATOH7	FGFR2	SEMA4A	FGF10	PARN	NLRP3	TYMS	TINF2	FZD4	KRT3	HLA-DRB1	IGSF3
HP_THICK_NASAL_ALAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICK_NASAL_ALAE	ARID2	AKT1	ARID1A	KANSL1	CCNK	NEXMIF	SMARCA2	RPS6KA3	ARSL	SMARCA4	TRPS1	PTEN	KCNH1	CHD2	ABCA5	EXT1	NF1	PIK3C2A	SMARCC2	SMARCB1	ANKRD17	H4C5	SYNGAP1	SMARCE1	SLC6A1	ARID1B	SCN1A	ANTXR1	DPF2	SCNM1	RHOA	SMARCD1	ZSWIM6	MED12	AP2M1	SOX4	SOX11	SLC2A1
HP_ABNORMAL_COLUMELLA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_COLUMELLA_MORPHOLOGY	SHH	MGAT2	ITCH	EXOSC2	CLCN3	CTCF	CDC42BPB	NOG	ARSL	KCNH1	AFF3	KDM6A	KMT2D	HIVEP2	SRCAP	SMG9	EP300	CAPN15	KMT5B	KCTD1	PCDHGC4	ASXL3	H4C5	CTNNB1	SOX11	MBD5	TAF6	CWC27	EDEM3	CREBBP	MADD	ACTB	RAC1	DNMT3A	MAN2C1	THUMPD1	RDH11	ATP6V1E1	CENPF	CDH11	ZEB2	HDAC4	GJA1	KAT6A	CKAP2L	POC1A	HNRNPR	KDM5B	ACTG1	HNRNPH2	TWIST1	LMBR1	H3-3B	ZMIZ1	PPP1R21	GJA5	TRIP12	KNL1	CHST14	LIFR	UBE2A	FLI1	B3GLCT	NAA10	TBCD	ALX4	NALCN	SCNM1	GJA8	ERF	ALX3	SMARCA2	ATN1	AIMP2	PIK3C2A	RYR1	TRIO	THOC6	ALG9	ZSWIM6	TSPEAR	KDM3B	BICRA	PQBP1	ZNF148
HP_ENLARGED_NARIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_NARIS	NAA10	NSD1	UNC80	MKS1	NALCN
HP_SINGLE_NARIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SINGLE_NARIS	DISP1	SHH	FOXH1	FGFR1	ZIC2	FGF8	TDGF1	STIL	PLCH1	DLL1	GAS1	PTCH1	TGIF1	NODAL	GLI2	CDON	STAG2	SMC1A	SIX3	WNT3	CSPP1	SMCHD1
HP_NARROW_NARIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_NARIS	ATP6V1E1	ESCO2	KCNJ6	ATP6V1A	MEGF8
HP_APLASIA_HYPOPLASIA_OF_THE_NASAL_SEPTUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_NASAL_SEPTUM	TGIF1	SIX3	PTCH1	FLNB	NOG
HP_SUNKEN_CHEEKS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUNKEN_CHEEKS	AEBP1	NGLY1	LRP1	PSMC3	TUBB4A	CAV1
HP_MANDIBULAR_APLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MANDIBULAR_APLASIA	CDC6	ORC6	PRRX1	CDC45	ORC1	COX7B	NDUFB11	GMNN	HCCS	ORC4	OTX2	CDT1	FAM20C
HP_DUPLICATION_OF_THUMB_PHALANX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUPLICATION_OF_THUMB_PHALANX	RPS29	RPS20	BCOR	TBX5	RPL27	GLI1	GJA5	RPL35A	UBE2T	FANCA	KIF7	DVL1	FGFR3	NAA10	INTU	SMO	BMPR1B	RPS26	FGF10	RPL26	FANCD2	RPS19	RAB23	RPS17	CANT1	RPS24	PPP2R3C	GATA1	GJA8	RPS10	SALL1	LMBR1	CHSY1	GLI3	RPS27	GDF5	ACTB	TSR2	FANCE	NUP107	ADA2	RPL35	RPS28	FGFR2	SHMT2	SF3B2	PAH	FANCC	RPL15	RPS7	RPL18	ESCO2	RPL11	ACTG1	DACT1	RPL31	RPS15A	RPL5
HP_COMPLETE_DUPLICATION_OF_PHALANX_OF_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMPLETE_DUPLICATION_OF_PHALANX_OF_HAND	LMBR1	BCOR	BMPR1B	LEMD3	FANCD2	CHSY1	RAB23	GDF5	FANCC	FANCE	ESCO2	FANCA	SHMT2	NAA10
HP_PARTIAL_DUPLICATION_OF_THE_PHALANX_OF_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARTIAL_DUPLICATION_OF_THE_PHALANX_OF_HAND	RPS29	RPS20	TBX5	TWIST1	CHSY1	RPS27	RPL27	GLI1	TSR2	NUP107	RPL35A	ADA2	FGFR2	RPL35	KIF7	DVL1	RPS28	RNU4ATAC	SF3B2	INTU	PAH	RPS26	RPL26	FANCD2	RPS19	SALL1	RPL15	RPS17	CANT1	RPS7	RPL18	RPS24	PPP2R3C	RPL11	GATA1	DACT1	RPL31	RPS10	RPS15A	RPL5
HP_PARTIAL_DUPLICATION_OF_THE_DISTAL_PHALANGES_OF_THE_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARTIAL_DUPLICATION_OF_THE_DISTAL_PHALANGES_OF_THE_HAND	PPP2R3C	PAH	KIF7	TWIST1	CANT1	FGFR2
HP_ABNORMAL_1ST_METACARPAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_1ST_METACARPAL_MORPHOLOGY	VPS35L	BRD4	HDAC8	SOX9	RAD21	DLK1	SHH	NPR3	NOG	SRCAP	GDF5	XRCC2	SETBP1	HOXA13	FZD2	NONO	SMC3	RNU4ATAC	FIG4	FANCI	NIPBL	BMPR1B	FANCD2	MEG3	SMC1A	GNAS	CANT1	SALL4	PQBP1	LAMA5	TRIO	RTL1	IHH	LMBR1	ACVR1	VAC14	PCNT
HP_ABNORMAL_2ND_METACARPAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_2ND_METACARPAL_MORPHOLOGY	GLI3	BMPR1B	GDF5	RUNX2	BMP2	SALL1
HP_ABNORMAL_3RD_METACARPAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_3RD_METACARPAL_MORPHOLOGY	SVBP	GNAS	LBR	FLNA	TBX3
HP_ABNORMAL_4TH_METACARPAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_4TH_METACARPAL_MORPHOLOGY	HOXD13	SVBP	PTCH2	GNAS	GLI3	TBX3	SMOC1	SHOX	SUFU	FERMT1	PIGS	DCHS1	FGF16	EIF4A3	PORCN	FBXL3	FAT4	PRKG2	LBR	FLNA	PTCH1	SRY
HP_ABNORMAL_5TH_METACARPAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_5TH_METACARPAL_MORPHOLOGY	HOXD13	CSPP1	SVBP	SRCAP	GNAS	TBX3	SMOC1	COL11A2	FBN1	RUNX2	FERMT1	FGF16	BMP2	EIF4A3	KIAA0586	PRKG2	LBR	FLNA	LTBP3	NOG
HP_APLASIA_HYPOPLASIA_OF_THE_1ST_METACARPAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_1ST_METACARPAL	VPS35L	BRD4	HDAC8	SOX9	RAD21	DLK1	SHH	NOG	SRCAP	GDF5	XRCC2	SETBP1	HOXA13	FZD2	SMC3	FIG4	FANCI	NIPBL	BMPR1B	FANCD2	MEG3	SMC1A	CANT1	SALL4	LAMA5	TRIO	RTL1	LMBR1	ACVR1	VAC14	PCNT
HP_SHORT_1ST_METACARPAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_1ST_METACARPAL	VPS35L	BRD4	HDAC8	SOX9	RAD21	DLK1	NOG	SRCAP	SETBP1	HOXA13	FZD2	SMC3	FANCI	GDF5	NIPBL	MEG3	SMC1A	CANT1	SALL4	LAMA5	RTL1	ACVR1	BMPR1B	PCNT
HP_APLASIA_HYPOPLASIA_OF_THE_2ND_METACARPAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_2ND_METACARPAL	GLI3	BMPR1B	GDF5	RUNX2	BMP2
HP_APLASIA_HYPOPLASIA_OF_THE_4TH_METACARPAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_4TH_METACARPAL	PIGS	DCHS1	GLI3	SVBP	PTCH2	GNAS	TBX3	PORCN	FBXL3	SHOX	SUFU	FAT4	PRKG2	LBR	FLNA	FERMT1	PTCH1	SRY
HP_APLASIA_HYPOPLASIA_OF_THE_5TH_METACARPAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_5TH_METACARPAL	SVBP	FGF16	BMP2	SRCAP	GNAS	TBX3	HOXD13	COL11A2	RUNX2	PRKG2	LBR	FLNA	FERMT1	NOG
HP_APLASIA_OF_METACARPAL_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_METACARPAL_BONES	TRIO	GLI3	LMBR1	SHH	FANCD2	VAC14	FIG4	SALL4	RECQL4	XRCC2	TBX3
HP_DEVIATION_OF_THE_HALLUX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVIATION_OF_THE_HALLUX	DNAJC30	SOX9	CDKL5	ITCH	VPS37D	IL11RA	FGFR2	HOXD13	PRDM5	ERMARD	ACVR1	B3GALT6	TP63	FGFR1	PCDHGC4	SLC29A3	TTI2	AEBP1	ATL3	METTL27	ATP6V1B2	ELN	C2CD3	KCNH1	TCF12	CREBBP	TBC1D2B	TWIST1	COL1A2	PTEN	CHST3	SCARF2	BMP2	GTF2IRD1	H4C9	ZEB2	YY1	KAT6A	DYRK1A	HOXA13	BUD23	NFIX	NUP107	SF3B4	FGFR3	BAZ1B	AKT1	BCL7B	MLXIPL	ZMIZ1	RBBP8	CWC27	NCF1	SLC16A2	GDF5	PSMB8	USP7	EIF4H	GTF2IRD2	LIMK1	USP9X	FKBP6	RFC2	MYH3	TBL2	ERF	TMEM270	SMARCA2	ZNF469	BMPR1B	GTF2I	FHL1	NONO	CHST11	B3GAT3	KCNN3	CLIP2	FGF9	STX1A	HEATR3	GBA1	EP300	SRY
HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_HALLUX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_DISTAL_PHALANX_OF_THE_HALLUX	TBR1	VAC14	HOXD13	TWIST1	CANT1	FIG4	MAP3K20	PTHLH
HP_ABNORMALITY_OF_THE_FIRST_METATARSAL_BONE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_FIRST_METATARSAL_BONE	VPS35L	HOXA13	TTC26	ABCC9	NEK1	TWIST1	CANT1	FGFR2	ACVR1	VAC14	FIG4	EP300
HP_ABNORMAL_HALLUX_PHALANX_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HALLUX_PHALANX_MORPHOLOGY	LMBR1	CREBBP	NEK1	EP300	FGFR2	GATA4	IFT122	SATB2	GPC4	HOXD13	CTCF	SUMF1	GLI3	EFNB1	KIF7	ACVR1	TBR1	ACTB	FLI1	KCNJ8	FGFR1	FIG4	MAP3K20	HYLS1	BMP2	SMO	SALL1	RAB23	ABCC9	BHLHA9	CANT1	IHH	SALL4	NXN	VAC14	DACT1	ROR2	TWIST1	C2CD3	PTHLH
HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_HALLUX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_HALLUX	ACVR1	VAC14	HOXD13	FIG4	MAP3K20	PTHLH	IHH
HP_BROAD_HALLUX_PHALANX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_HALLUX_PHALANX	CREBBP	EP300	FGFR2	GATA4	SATB2	GPC4	HOXD13	CTCF	SUMF1	GLI3	EFNB1	FLI1	KCNJ8	FGFR1	BMP2	SALL1	ABCC9	SALL4	NXN	DACT1	ROR2
HP_DUPLICATION_OF_PHALANX_OF_HALLUX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUPLICATION_OF_PHALANX_OF_HALLUX	LMBR1	CREBBP	KIF7	NEK1	ACTB	EP300	RAB23	TWIST1	C2CD3	CANT1	HYLS1
HP_APLASIA_HYPOPLASIA_OF_THE_DISTAL_PHALANX_OF_THE_HALLUX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_DISTAL_PHALANX_OF_THE_HALLUX	VAC14	HOXD13	FIG4	MAP3K20	PTHLH
HP_MESOAXIAL_FOOT_POLYDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MESOAXIAL_FOOT_POLYDACTYLY	GJA8	GJA5	MAP3K20	GLI3	TFAP2B
HP_ABNORMALITY_OF_THE_PHALANGES_OF_THE_TOES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PHALANGES_OF_THE_TOES	BMPR1B	KCNA1	SOX9	TBC1D24	NEK1	RHBDF2	FANCB	GATA4	IFT122	SCN1B	CTCF	HS2ST1	ARSL	UBE2T	KIF7	LMNA	ACVR1	FGFR1	FIG4	HYLS1	BMPR1A	HPGD	FGFR3	ZMPSTE24	RIPK4	RAB23	SCN9A	GRM7	ABCC9	CANT1	SALL4	COL3A1	SLCO2A1	WDR19	C2CD3	NOG	BRCA1	ARID1B	TRPV4	HOXD13	SMARCA2	GPC4	SUMF1	GLI3	EFNB1	KCNN3	SLC25A22	KCNJ8	FANCF	CDKL5	FGFR2	RETREG1	SCN2A	PTEN	COL6A3	GNAO1	BHLHA9	IHH	WNT7A	COL12A1	VAC14	PALB2	TWIST1	NOTCH2	MTX2	TP63	CREBBP	BRCA2	WNK1	EP300	TRIM8	UBE2A	FANCM	ACTB	FLI1	CASK	SLX4	MAP3K20	BMP2	SMO	TLL1	PIGQ	EOGT	ERCC4	FANCL	PIGF	COL6A2	ARX	PIGL	DMXL2	RAD51C	NXN	GRIN1	FANCD2	LMBR1	KCNH1	WLS	PIGP	KIF1A	SATB2	MAD2L2	NEUROD2	FANCA	FANCI	TBR1	FANCE	FANCG	MED25	HNRNPH1	ATP6V1B2	BRIP1	SALL1	COL6A1	RAD51	RFWD3	XRCC2	SIK1	DACT1	ROR2	FANCC	GDF5	PNKP	PTHLH
HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_TOES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_TOES	BMPR1B	TP63	TBC1D24	ARID1B	KCNH1	WLS	TRPV4	GPC4	ARSL	LMNA	KCNN3	NOG	ACVR1	FIG4	MAP3K20	ATP6V1B2	RIPK4	RAB23	EOGT	PIGF	IHH	PIGL	WNT7A	VAC14	HOXD13	GDF5	ROR2	PTHLH
HP_BROAD_PHALANX_OF_THE_TOES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_PHALANX_OF_THE_TOES	KCNA1	CREBBP	PIGP	EP300	FGFR2	GATA4	TRIM8	SATB2	SCN1B	GPC4	HOXD13	CTCF	HS2ST1	SUMF1	NEUROD2	GLI3	EFNB1	SLC25A22	FLI1	KCNJ8	FGFR1	CASK	CDKL5	BMPR1A	MED25	BMP2	SCN2A	PTEN	GNAO1	PIGQ	SALL1	GRM7	ABCC9	ARX	SALL4	DMXL2	WDR19	NXN	SIK1	DACT1	ROR2	GRIN1	PNKP
HP_ABNORMALITY_OF_THE_DISTAL_PHALANGES_OF_THE_TOES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_DISTAL_PHALANGES_OF_THE_TOES	ARID1B	KCNH1	ZMPSTE24	TRPV4	GPC4	HOXD13	HS2ST1	ARSL	KCNN3	NOG	LMNA	TBR1	FIG4	MAP3K20	MED25	RIPK4	EOGT	PIGF	CANT1	VAC14	TWIST1	ROR2	MTX2	PTHLH
HP_ABNORMALITY_OF_THE_MIDDLE_PHALANGES_OF_THE_TOES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MIDDLE_PHALANGES_OF_THE_TOES	FGFR3	RAB23	TRPV4	NOG	EOGT	HOXD13	IHH	FGFR2	FGFR1	VAC14	FIG4
HP_APLASIA_HYPOPLASIA_OF_THE_DISTAL_PHALANGES_OF_THE_TOES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_DISTAL_PHALANGES_OF_THE_TOES	ARID1B	RIPK4	KCNH1	TRPV4	NOG	EOGT	PIGF	GPC4	ARSL	KCNN3	VAC14	HOXD13	FIG4	ROR2	MAP3K20	PTHLH
HP_APLASIA_HYPOPLASIA_OF_THE_MIDDLE_PHALANGES_OF_THE_TOES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_MIDDLE_PHALANGES_OF_THE_TOES	VAC14	RAB23	NOG	EOGT	FIG4	IHH
HP_IVORY_EPIPHYSES_OF_THE_PHALANGES_OF_THE_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IVORY_EPIPHYSES_OF_THE_PHALANGES_OF_THE_HAND	TRPS1	SRCAP	ERCC6	EIF2AK3	ERCC8	TONSL
HP_PSEUDOEPIPHYSES_OF_THE_PHALANGES_OF_THE_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSEUDOEPIPHYSES_OF_THE_PHALANGES_OF_THE_HAND	KCNH1	BMPR1B	NPR3	GDF5	RAB23
HP_APLASIA_OF_THE_MIDDLE_PHALANX_OF_THE_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_MIDDLE_PHALANX_OF_THE_HAND	GJA1	NSDHL	IFT140	FIG4	FGFR2	LMNA	MEGF8	ATP6V1B2
HP_SHORT_PROXIMAL_PHALANX_OF_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_PROXIMAL_PHALANX_OF_FINGER	BMPR1B	KIF15	IHH	COL2A1	FGFR3	GDF5	MTOR
HP_APLASIA_OF_THE_PROXIMAL_PHALANGES_OF_THE_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_PROXIMAL_PHALANGES_OF_THE_HAND	TRIO	LMBR1	SHH	FANCD2	VAC14	BMPR1B	FIG4	XRCC2
HP_ABNORMALITY_OF_THE_EPIPHYSES_OF_THE_DISTAL_PHALANX_OF_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_EPIPHYSES_OF_THE_DISTAL_PHALANX_OF_FINGER	TRPS1	MRPS28	BMPR1B	SRCAP	GDF5	ARSL
HP_ABNORMALITY_OF_THE_EPIPHYSES_OF_THE_PROXIMAL_PHALANGES_OF_THE_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_EPIPHYSES_OF_THE_PROXIMAL_PHALANGES_OF_THE_HAND	TRPS1	IHH	NPR3	GDF5	RAB23
HP_STOMATITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STOMATITIS	PML	ELANE	NLRP3	HLA-DQB1	MMACHC	LMBRD1	IRF2BP2	NCF4	WDR1	FIP1L1	NOD2	PRKCD	IL10	CCR1	KYNU	FAS	IL17RC	ORAI1	CLPB	NABP1	HLA-B	DCLRE1C	ZBTB16	CARMIL2	CASP10	IFNGR1	RIN2	TLR4	MVK	NLRP12	C4A	HYOU1	RNF125	KLRC4	FASLG	IL12A	STAT4	STAT5B	CD40LG	IL23R	CEBPE	GFI1	IRF9	RASGRP1	MEFV	IL1RN	NPM1	STAT3	SLC37A4	RARA	UBAC2	RHOH	NUMA1	TCIRG1	PRKDC	ITK	BCOR	TLR8	TBL1XR1	SRP54	IL12A-AS1	PRKAR1A	ZAP70	ERAP1	IL6	HLA-DQA1
HP_THIN_LOWER_LIP_VERMILION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIN_LOWER_LIP_VERMILION	THOC6	PIK3CD	KNSTRN	PIGN	HS2ST1
HP_INTRA_ORAL_HYPERPIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRA_ORAL_HYPERPIGMENTATION	CDH23	TP53	ATRX	ABCD1	USP8	MTX2	NR3C1	USP48	BRAF
HP_ABNORMAL_SALIVARY_GLAND_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SALIVARY_GLAND_MORPHOLOGY	NOD2	TCOF1	FGF10	OGDH	MSH2	MSH6	GRHL3	B2M	MLH1	BTNL2	CXCR4	FGFR3	PLAG1	IRF6	TP63	ATP2A2	FGFR2	HLA-DRB1	PSMB8
HP_APLASIA_HYPOPLASIA_OF_THE_UVULA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_UVULA	BRCA1	BRCA2	PRR12	FANCB	MAD2L2	SPTBN1	FANCA	UBE2T	FANCM	FANCI	FANCE	FANCF	SLX4	FANCG	BRIP1	PI4KA	ERCC4	FANCL	NXN	WDR35	RAD51	RFWD3	RAD51C	XRCC2	PALB2	FANCC	FANCD2	ROR2
HP_PALATE_FISTULA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALATE_FISTULA	ARHGAP29	IRF6	MSX1	DLX4	BMP4	NECTIN1	DLG1	TP63	PDGFRA	CDH1
HP_APLASIA_HYPOPLASIA_OF_THE_TONGUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_TONGUE	CSPP1	TRIM37	DHCR7	PRRX1	TMEM67	GLI3	VPS13B	MYMK	RPGRIP1	REV3L	OTX2	MYMX	CEP290	TXNDC15	PTDSS1	B9D1	B9D2	TBX15	GNAI3	EDN1	TCTN2	NEK1	BMP4	CC2D2A	MKS1	SMO	LMNB2	TCTN3	RBBP8	TMEM107	PLXND1	TMEM237	TCTN1	TMEM216	PLCB4	ECM1	TMEM231	RPGRIP1L
HP_ANKYLOGLOSSIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANKYLOGLOSSIA	PRR12	COL7A1	CDC42BPB	SPTBN1	RSPO2	MMP1	BCR	AFF3	CRKL	DDX59	ZMPSTE24	SETBP1	TELO2	SLC37A4	H4C5	MAPK1	OFD1	FAM111A	TBX22	NXN	MID1	ROR2	LMNA	POU4F1
HP_BIFID_TONGUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIFID_TONGUE	DVL3	HNRNPK	DHCR7	NEK1	RIPK4	DYNC2H1	DDX59	DVL1	WNT5A	GRIP1	ALX3	DYNC2I2	IPO8	IFT80	DYNC2I1	FRAS1	MCTP2	OFD1	C2CD3	CEP120	FREM2	NXN	ROR2	FZD2	WDR35
HP_ABNORMAL_DENTIN_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DENTIN_MORPHOLOGY	MIA3	TRIP11	COL1A2	B3GALT6	DSPP	FKBP10	PHEX	SEC24D	COL1A1	CDH11	SERPINH1	P4HB	PPIB	ZNF469
HP_ABNORMALLY_LOW_PITCHED_VOICE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALLY_LOW_PITCHED_VOICE	BRD4	TRPS1	NIPBL	HDAC8	RAD21	EED	EZH2	SRPX2	SMC1A	SMC3	SUZ12	GRIN2A	NSD1
HP_SPINAL_DYSRAPHISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPINAL_DYSRAPHISM	DNAJC30	SOX9	TBC1D24	PTCH2	NSUN2	CHRNG	FANCB	VPS37D	DLL3	CUL7	HAAO	HES7	TBX6	UBE2T	DLL4	FUZ	TBXT	FLNA	ZIC1	MEOX1	HIRA	PAX3	MEG3	RAB23	COLEC10	SALL4	METTL27	TBX1	MTRR	NEK9	COL18A1	RBM8A	BRCA1	DLK1	ARID1B	DACT1	GP1BB	ARVCF	ITGB4	PUF60	RORA	VANGL1	MTHFR	LIG4	GTF2IRD1	FANCF	RREB1	CCL2	BUD23	BMP2	HMX1	CDK13	BMS1	KIF22	PALB2	COMT	BAZ1B	UBA2	RMRP	ELN	ACTB	CREBBP	PLEC	FLNB	BCL7B	TNXB	POLA1	MLXIPL	BRCA2	PSAT1	EP300	SEC24C	NCF1	CHN1	MASP1	NF1	FANCM	MTR	MYH3	GDF6	FLI1	SLX4	KANSL1	EIF4H	B3GLCT	LMX1B	GTF2IRD2	LIMK1	ERCC4	FANCL	MAP3K7	PTPN11	COLEC11	FKBP6	MTHFD1	PIK3CA	RTL1	RAD51C	RFC2	FANCD2	BRAF	RECQL4	TBL2	LFNG	PTCH1	TMEM270	PORCN	KCNH1	MAD2L2	RAF1	GTF2I	FANCA	JMJD1C	RIPPLY2	FANCI	SUFU	NOTCH2NLC	TRIM36	RUNX2	FANCE	IRF6	FANCG	CCBE1	ATP6V1B2	CLIP2	BRIP1	SUPT16H	VANGL2	CCNQ	PHGDH	GDF3	SLC25A19	AMER1	SNRPB	MESP2	RAD51	RFWD3	MAFB	XRCC2	FIBP	HRAS	UFD1	FANCC	STX1A	WBP11	DARS1	IKBKG
HP_SPINAL_CORD_TUMOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPINAL_CORD_TUMOR	NF2	ZFTA	SMARCB1	RELA	CCND1	VHL	CREBBP	LZTR1	FLI1
HP_ABNORMAL_SPINAL_MENINGEAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SPINAL_MENINGEAL_MORPHOLOGY	HEY2	TGFB3	KANSL1	SMAD3	PRKG1	NOTCH3	LOX	SMAD2	FBN1	MAT2A	FOXE3	RASA1	MFAP5	FOXC2	MYLK	TGFBR2	TGFBR1	TGFB2	ELN	SMAD4	NF1	ACTA2	MYH11
HP_ABSENCE_OF_THE_SACRUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENCE_OF_THE_SACRUM	FANCB	MNX1	VANGL2	HAAO	FUZ	VANGL1	ZIC3	TBXT	PTH1R	NODAL	CCL2
HP_SHORT_THORAX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_THORAX	SLC26A2	DYNC2H1	DYNC2I2	IFT172	SLC10A7	IARS2	COL2A1	NADSYN1	IFT122	WDR19	DYNC2I1	DLL3	CUL7	HES7	TBX6	OBSL1	TRPV4	FGFR3	DYNC2LI1	IHH	IFT52	IFT140	PTH1R	FREM2	MBD5	WDR35	EVC2	LFNG	ACAN	NEU1	BMPER	DYM	SLC2A1	FLNA	RIPPLY2	TRIP11	LTBP1	ORC6	CCDC8	GLI1	TTC21B	IFT80	CEP120	MESP2	EVC	PRKACA	RMRP	PRKACB
HP_STRIDOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STRIDOR	SCN4A	GNPTAB	IGHMBP2	SOX9	CTSK	EXOSC9	COQ2	SLC52A3	DST	VAMP1	LAMC2	AGTPBP1	VRK1	LAMB3	AGRN	SLC18A3	MIR140	SERPING1	VPS33A	SCO2	NFASC	COL13A1	CACNA1C	TRPV4	EXOSC3	FUZ	SLC25A1	SLC25A46	CHAT	LAMA3	SCARF2	PAX8	LYRM4	TSPYL1	SLC18A2	SLC5A7	GNB1	SYT2	NFIX	JAG1	KIF22	SNAP25	PLP1	MYO9A	D2HGDH	MID1	FLNA	EXOSC8	GTPBP3	GBA1	MAP3K7
HP_CHYLOTHORAX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHYLOTHORAX	MAP2K1	RASA1	CBL	EPHB4	BRAF	FOXC2	CCBE1	ADAMTS3	PTPN11	FAT4	TSC1	BTNL2	KIF11	PIEZO1	ALG14	TSC2	HLA-DRB1
HP_APLASIA_HYPOPLASIA_OF_THE_BREASTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_BREASTS	TWIST2	CCDC141	PROK2	FGF17	IKBKG	CHD7	FGF8	LMNA	BNC1	PSMC3IP	CDC45	KCTD1	NUP107	ORC1	MRPS22	SOX3	SEMA3A	DCC	NR5A1	PROP1	CDT1	SPRY4	ORC6	HESX1	HS6ST1	TBX3	REV3L	SPIDR	NSMF	FSHR	POC1A	KISS1	ANTXR1	PLXND1	ORC4	FSHB	MTX2	ACTB	GNRH1	CDC6	ZSWIM7	OTX2	TP63	ESR1	DUSP6	YY1	FEZF1	FGFR1	LHX4	IL17RD	GLI2	DYRK1A	WDR11	KISS1R	USP9X	BMP15	POLR3H	TACR3	SOX10	TAC3	NDNF	ANOS1	FLRT3	EFNB1	PROKR2	GNRHR	POU1F1	FOXA2	GMNN	MAF	NIN
HP_PREMATURE_THELARCHE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_THELARCHE	CREBBP	EIF5A	DYRK1A	KDM6A	KMT2D	MMP14	CYP11B1	EP300	TANGO2	MKRN3	MMP2
HP_EBSTEIN_ANOMALY_OF_THE_TRICUSPID_VALVE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EBSTEIN_ANOMALY_OF_THE_TRICUSPID_VALVE	FREM1	NONO	TPM1	MYH7	YY1	GATA1	JPH2
HP_APLASIA_HYPOPLASIA_OF_THE_ABDOMINAL_WALL_MUSCULATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_ABDOMINAL_WALL_MUSCULATURE	SOS2	CHRM3	KRAS	CSGALNACT1	CHRNG	LZTR1	GPC4	MANBA	RAF1	COL3A1	FBN1	PTPN11	MCOLN1	SPRED2	GPC3	CANT1	MYH3	ATP7A	NRAS	RRAS	MRAS	COLEC11	CBL	RIT1	ACTG2	SOS1	RASA2	DIS3L2	SLC25A24	RRAS2	FLNB	CD96	XYLT1	BRAF	RMRP	SKI
HP_ABNORMALITY_OF_THE_2ND_TOE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_2ND_TOE	ATP6V1B2	IPO8	TBC1D24	TBC1D2B	SMARCA2	CHSY1	BCOR	BMPR1B	HNRNPR	KCNN3	BMP2	PIGL	GDF5	MAP3K20
HP_ABNORMALITY_OF_THE_3RD_TOE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_3RD_TOE	LMNA	TBC1D2B	DACT1	SALL1	EOGT	COG8	MAP3K20	BCOR	NOG
HP_ABNORMALITY_OF_THE_4TH_TOE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_4TH_TOE	HEPHL1	TBC1D2B	EOGT	COG8	PPP2R5D	BCOR	MAP3K20	RAB3GAP2	NOG
HP_ABNORMALITY_OF_THE_5TH_TOE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_5TH_TOE	DYNC2H1	CSPP1	MKKS	WDR19	PLAA	KIF7	RPGRIP1	LBR	DYNC2LI1	TXNDC15	DDX59	B9D2	KCNJ5	TCTN2	EVC2	KIAA0825	TCTN3	EXTL3	TMEM107	GLI3	SETD5	SALL1	C2CD3	DYNLT2B	NOG	DHCR7	ARID1B	CHSY1	ARL6	TMEM67	BMP4	HOXD13	INPP5E	CIBAR1	TMEM216	SMOC1	ZNF141	KCNN3	TMEM231	TTC21B	ALG3	NEK1	PDE6D	MKS1	SMO	CD96	RPGRIP1L	TCTN1	TRMT10A	PRKACB	KCNJ2	CCDC28B	IFT74	DYNC2I2	IFT172	WWOX	DYNC2I1	RNF6	CEP290	MAP3K20	PPP1R15B	DLEC1	CKAP2L	IFT140	NPHP3	TMEM237	LZTFL1	SCNM1	CC2D2A	PIGH	LMBR1	BBS9	BBS2	TGFBR2	OTUD5	EVC	B9D1	IFT80	BBS1	CEP120	HEPHL1	FREM1	SC5D	RAB3GAP2
HP_DEVIATION_OF_THE_2ND_TOE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVIATION_OF_THE_2ND_TOE	BMP2	CHSY1	GDF5	BMPR1B	HNRNPR
HP_DEVIATION_OF_THE_5TH_TOE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVIATION_OF_THE_5TH_TOE	KCNJ5	ALG3	CKAP2L	CHSY1	WWOX	TGFBR2	HEPHL1	RNF6	KCNJ2	TRMT10A	PIGH	SALL1	RAB3GAP2	PPP1R15B	DLEC1
HP_ABNORMAL_VENTRICULAR_SEPTUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VENTRICULAR_SEPTUM_MORPHOLOGY	LRP2	MGP	MKKS	KAT6B	NDUFA9	VPS37D	YARS1	ARSL	RARB	GPC4	RIT1	ZNF699	HYLS1	MYOCD	MEOX1	IPO8	GATA5	IDH1	SMARCB1	RTL1	WASHC5	TUBG1	PTPN11	CHRM3	SETD2	NDUFS7	RPS24	CAMK2A	PIGL	SPECC1L	DHCR7	RPS27	NDUFA13	SLC12A2	GLI3	ATP6V0A2	GP1BB	LONP1	ADA2	SMARCA4	SOS2	TGDS	COX15	ZIC3	TAPT1	TET3	RPS28	ZEB2	WAC	RREB1	KAT6A	NKAP	PEX16	SCN2A	NDUFA2	BMP2	STAMBP	SMC1A	FANCC	ODAD3	IGBP1	HNRNPR	CD96	ARID1B	SLC29A3	WT1	ADAMTS10	NDUFA12	RPS29	CREBBP	NDUFAF2	STAG1	LZTR1	MLXIPL	NDUFC2	RPL35A	MYH7	DST	NIPA1	PSMD12	WNT4	DPH1	GDF6	VIPAS39	TBX3	GLA	TBX1	PIGQ	MACF1	PPP2R5D	GATA6	C2CD3	FKBP6	DMXL2	VPS33B	GATA4	HRAS	LBR	HNRNPK	DPH5	GTF2E2	SKIC3	APC2	RPL5	ARID1A	NDUFA10	TAB2	BAP1	TRIO	ATN1	CHD7	MMP14	NEK9	PRDM13	ARX	CLIP2	SLC37A4	FIG4	FOXF1	KANSL1	NDUFS3	SPEN	TRRAP	GPC6	ERBB3	SMARCD1	DPF2	MID1	SIK1	ROR2	FBN1	MT-CYB	PPP1CB	FTO	NDUFA4	HCCS	SVBP	RAD21	TBX5	LETM1	MYCN	CPLX1	CSRP3	CSGALNACT1	RERE	SPTBN1	ALKBH8	FANCB	NAA20	SOX4	GNB2	CDC45	RPL26	IGF1R	UBR7	GRM7	MEIS2	KMT2D	NSD2	CRB2	SALL1	NDUFV1	ALG12	MAP2K2	CWC27	DOHH	UBE3B	PACS1	TASP1	EXOC2	EFTUD2	NOTCH3	RAC1	NSD1	DGCR8	SLC19A3	MPLKIP	RSPO2	PDHA1	GYG1	PEX5	GPC3	CHST3	NIPA2	TCTN3	CDKL5	FANCI	CCDC32	AKT3	PAH	RPS19	B3GLCT	WDR37	NDUFS8	CDK13	CCDC22	MGAT2	CTU2	TCIRG1	VAC14	COMT	ASXL1	BAZ1B	MEG3	RPS15A	AFF4	ELN	ANKRD11	PET100	DVL3	KIFBP	CDK8	FLNB	POLA1	CACNA1D	EP300	SEC24C	NOTCH2	MICU1	FLI1	CASK	EIF4H	COX7B	WDR26	LARS2	NAA10	CKAP2L	SALL4	TMEM53	DYRK1A	NXN	GJA8	SMARCE1	SOX11	ZNF462	COQ4	HYMAI	GDF1	NR2F2	PIGP	CITED2	BRAF	BRF1	MASP1	NONO	PUF60	MED23	DYNC2I1	SMAD2	NDUFS4	THOC6	SNRPB	NKX2-5	NDUFAF5	NKX2-1	KDM3B	RPS7	AMER1	FADD	SHANK3	TMEM260	PRKACB	BRD4	NDUFV2	PPM1D	PLXND1	GJA1	KAT5	RPL10	B3GALT6	NF1	DDX59	RPS26	MAP3K7	PLCH1	DTNA	RPL3L	CTBP1	KDM6A	ECE1	GATA1	METTL27	XYLT1	SMG9	SATB1	HDAC8	PI4KA	SDHA	SYNE1	MYRF	FGFRL1	NDUFB7	MIR17HG	PSMC1	LTBP2	PEX3	GTF2IRD1	SLC25A22	TNFRSF11A	SHOC2	CEP57	TP63	UQCRFS1	TMEM94	XYLT2	GNAO1	CHD4	PEX1	FOXC2	RPL15	DGCR6	SLC19A2	PKD1L1	KRAS	LEMD2	CACNA1C	GTF2H5	JAG1	OTUD6B	ACADVL	RPL11	FBN2	TIAM1	MTFMT	DLL4	CHMP1A	TRAIP	PEX6	BCL7B	SEC31A	IFT81	RPL27	TRIM8	VPS13B	ECHS1	ACVR2B	NDUFB11	PEX19	NCF1	CEP290	HOXA13	TKT	CANT1	CRKL	EXT2	ALPK3	FOXRED1	EOGT	UBR1	DLK1	ARHGAP31	NKX2-6	SMAD4	TXNL4A	ARCN1	RFC2	ABL1	RPS10	TNNT2	MED12	TBL2	PEX13	PORCN	UMPS	TGFB3	PPFIBP1	FGFR2	RRAS2	NUP107	SOS1	IFT172	NFIX	GTF2I	PIK3R2	SMG8	YY1AP1	TAOK1	CCBE1	DDX11	SMARCC2	ZMYM2	ALDH1A2	TTC7A	PHGDH	GDF3	FGFR1	MAPK1	RPL18	PQBP1	DSG1	STRA6	RNU4ATAC	RPL31	STX1A	KLHL41	KCNA1	DNAJC30	FIBP	NDUFS2	ESCO2	ERCC3	ESS2	DGCR2	MYPN	SCN1B	ATRX	PLAGL1	NDUFS1	BCR	NIPBL	LIPT1	PEX11B	KAT8	HIRA	STAG2	BSCL2	RAB23	TFAP2B	PEX12	TACO1	SETD5	PLD1	EVC2	RBM8A	SKIC2	TARS1	TSR2	SOX2	DNMT3A	INSR	ARVCF	FOCAD	SMC3	PEX10	SMN1	ZBTB7A	SF3B2	RAI1	COG6	GLI1	CARS1	BUD23	NEK1	LRP5	MYL2	MMP2	SF3B4	CCDC174	NUP188	PIEZO2	PEX2	MYBPC3	MAP2K1	RPS20	ARID2	SH3PXD2B	ERCC2	SATB2	RNF113A	SON	GJA5	PIK3CA	SIX6	PEX14	PALB2	NDUFAF6	UBE2A	DPH2	BCOR	CCND2	ALG8	TTC26	TBC1D24	NOTCH1	GTF2IRD2	LIMK1	RPS17	MED13L	GRIN1	TMEM270	JAM3	NEUROD2	RPL35	JMJD1C	PGM1	OTUD5	DYNC2LI1	MED25	CIROP	RYR1	SURF1	ALG9	PEX26	CALM3	DNAJC19	TBCK	NODAL	UFD1	EVC	WBP11	PRKACA	PNKP	TALDO1
HP_POLYDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYDACTYLY	BBIP1	MKKS	POU1F1	LMBR1	BHLHA9	IFT43	CPLANE1	DEAF1	RPGRIP1	SHH	GPC4	LBR	ZNF699	HYLS1	CASZ1	B9D2	KIAA0753	PURA	MEGF8	CEP41	BMP4	DYNC2I1	CEP19	KIAA0586	EXTL3	SALL4	IFT140	EVC	WDR35	TMEM231	NSD2	DHCR7	HSPG2	TCTN3	GLI3	NPHP1	GP1BB	CBY1	BBS5	DYNC2H1	PHF8	CCND2	TTC8	TRAF3IP1	RREB1	TMEM237	TTC21B	RBM10	CSPP1	TMEM138	CD96	RPGRIP1L	TCTN1	GLI2	GDF6	CFAP418	CEP290	CREBBP	DYNC2I2	CDCA7	TOPORS	HOXA13	TXNDC15	CHN1	FANCB	TBX3	MAP3K20	SMO	TMEM67	TMEM218	BBS7	TBX1	PRDM16	STAG2	MKS1	C2CD3	NPHP3	CC2D2A	KIF7	FLII	NCAPG2	GATA6	HNRNPK	PTCH1	BBS9	LHX3	PDPN	IFT27	CHD7	TCTN2	RAI1	CHST11	SUFU	EBP	EVC2	NEU1	CEP120	TMEM107	MAFB	GDF5	SC5D	PDE6D	SPRED1	BBS2	SYNGAP1	LETM1	CPLX1	IGF2	TFAP2A	DYNC2LI1	GABRD	PIK3CA	TMEM216	CDC45	INTU	COLEC10	CRB2	PNPLA6	SALL1	OFD1	TASP1	EFTUD2	INPP5E	CIBAR1	ZNF423	CENPF	GPC3	FBLN1	AKT3	UQCC2	HESX1	MMP23B	CTU2	PRKACB	COMT	PRKACA	CCDC28B	CCDC22	EP300	SEC24C	OTX2	BBS12	KIF3B	IFT57	NKX2-5	FLI1	ZSWIM6	LZTFL1	WDR19	GJA8	ZIC3	FAM149B1	SCAPER	IFT74	ABCA12	BBS4	IFT80	PUF60	TGFBR2	CILK1	FOXA2	DACT1	TGFBR1	BMPR1B	NEK1	KATNIP	IQCE	H19	BLM	FGFR2	AFF3	BBS10	HMGA2	DDX59	FANCD2	IFT52	ARL6	SPEN	CTBP1	CEP164	AHI1	PTEN	PIBF1	SKI	DYNLT2B	ARMC9	FGFRL1	SMOC1	ZNF141	EFNB1	MBTPS2	GLI1	TRIM32	FLNA	RAB23	IFT172	WDPCP	IFT81	RBBP8	MAPKAPK5	CNTNAP2	BBS1	IQSEC2	LHX4	LUZP1	DYRK1A	SDCCAG8	TMCO1	PORCN	ARL13B	ACOX1	PIK3R2	PIGG	KCNAB2	PROP1	B9D1	PLAA	NELFA	HEATR3	PTCH2	SH2B1	SETBP1	RERE	HIRA	WNT7A	PLAG1	KIAA0825	TFAP2B	PRKCZ	TOGARAM1	SETD5	PPP2R1A	SUCLG1	NEK9	TWIST1	CHSY1	HOXD13	WASHC5	INSR	ARVCF	COG6	PITX1	CEP104	CDKN1C	ARL3	GJA5	GJA1	UBE4B	TTC26	USP9X	SCNM1	ALX3	JMJD1C	OTUD5	RNU4ATAC	NKX2-6	ADNP	UFD1
HP_PULMONARY_INSUFFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_INSUFFICIENCY	GNPTAB	STN1	SFTPC	ARSB	ADAMTS19	KIF20A	FAM13A	DNAL1	SFTPA2	TERC	ATP11A	FOXF1	TERT	RTEL1	COL1A2	ADA	PARN	LEMD2	FLNA	SFTPA1	DSP	DPP9	ABCA3	EFEMP2	INVS	MUC5B	COL1A1
HP_PRIMUM_ATRIAL_SEPTAL_DEFECT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMUM_ATRIAL_SEPTAL_DEFECT	TTC26	CFAP45	GATA4	GJA1	ERCC4
HP_TRICUSPID_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRICUSPID_STENOSIS	PLD1	RPS19	FBN1	MYCN	ADAMTSL2	CHST3
HP_ANAL_FISTULA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANAL_FISTULA	SYK	KDM6A	ELF4	KMT2D	CD3G	MNX1	TGFB1	PKP1
HP_ESOPHAGEAL_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ESOPHAGEAL_STENOSIS	COL7A1	DCLRE1B	SAMD9	FERMT1	ACD	RTEL1	DKC1	HLA-B	NPM1	NHP2	LAMA3	NOP10	LAMC2	LAMB3	PARN	COL4A6	MMP1	COL4A5	ITGA6	GMPPA	TINF2	WRAP53	PGM3	TERT	IKZF1	USB1	TYMS	CTC1	MYH11	TERC
HP_APLASIA_HYPOPLASIA_OF_THE_SPLEEN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_SPLEEN	ZMYND10	CSPP1	DNAJB13	MYCN	HMOX1	FOXF1	LRRC56	RPGRIP1	RPSA	TXNDC15	GAS8	B9D2	DNAAF4	OFD1	RSPH3	TCTN2	DNAL1	TCTN3	STK36	TMEM107	ODAD4	CFAP300	WNT3	SAMD9	TMEM67	BCL11A	CCDC65	DNAAF3	ZIC3	ZEB2	CCDC32	DNAAF1	ODAD3	HBG1	FOXJ1	CCDC40	NME8	MKS1	HBG2	TCTN1	STIM1	RELN	ODAD2	TWIST1	DNAI2	DNAH1	DNAH5	TMEM231	DNAH9	CFC1	SPAG1	TTC12	KATNB1	DNAAF11	RPGR	CEP290	DNAI1	DNAH11	NDE1	CFAP221	NEK8	RSPH4A	NEK10	ORAI1	HYDIN	FAM111A	SPEF2	CFAP298	KLF1	MCM10	TMEM237	RSPH1	TMEM216	AIRE	NPHP3	CCDC103	GDF1	MCIDAS	CCNO	RSPH9	GAS2L2	DNAAF2	DNAAF6	DNAAF5	B9D1	MNS1	SMAD2	HBB	CC2D2A	DRC1	STRA6	CCDC39	ODAD1	NODAL	RPGRIP1L
HP_ACETABULAR_SPURS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACETABULAR_SPURS	DYNC2I1	DYNC2H1	COL2A1	EVC	EVC2	WDR19	DYNLT2B
HP_ABNORMAL_GREATER_SCIATIC_NOTCH_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GREATER_SCIATIC_NOTCH_MORPHOLOGY	TRPV4	EXTL3	FGFR3	SBDS	DDRGK1	GUSB	MATN3	PCYT1A	CFAP410	COL2A1	GPC4	DNAJC21	COL11A1	GPX4	ALG9	DYM	INTU	GPC3	SLC26A2	SRP54
HP_FEMALE_PSEUDOHERMAPHRODITISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEMALE_PSEUDOHERMAPHRODITISM	NR3C1	FREM2	CD96	CYP19A1	FRAS1	GRIP1	SPECC1L
HP_TRUE_HERMAPHRODITISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRUE_HERMAPHRODITISM	CSPP1	SRY	TCTN2	TMEM67	SOX9	CC2D2A	MKS1	NR5A1	TCTN3	TMEM107	TMEM237	TCTN1	TMEM216	RPGRIP1	CEP290	WT1	TXNDC15	TMEM231	B9D1	RPGRIP1L	B9D2
HP_ABNORMALITY_OF_THE_FEMALE_GENITALIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_FEMALE_GENITALIA	PMS1	LRP2	ZFTA	MKKS	SEMA3E	VPS37D	CTCF	RARB	SDHD	BRCA1	KISS1R	HYLS1	AR	STAT6	NUP107	TERT	NDUFB11	FRAS1	TP53	FZD2	CDT1	SEC23B	COL7A1	SETD2	MSH2	TCTN3	MSH6	GP1BB	GNAS	CYP17A1	ADH5	PSMC3IP	SRY	LMNA	ZEB2	TGFBR2	CCDC141	NR5A1	PIK3CA	HNRNPR	FDXR	FOXE1	LARS2	FGF20	PALB2	HNF1B	NIN	DHX37	NTHL1	TWIST2	OPCML	CDC6	HNF1A	BRCA2	DVL1	SMCHD1	CYP11B1	WT1	TP63	TRIP13	DUSP6	FGFR3	RAD51	KAT6B	LEPR	FGF10	PTPRJ	MKS1	LONP1	FKBP6	GREB1L	DLC1	CTNNB1	NOBOX	MAD2L2	CDC73	NDNF	SLC37A4	CHD7	SPRY4	IRF6	MSH5	COL4A5	GNRHR	MINPP1	SOX9	BRIP1	CAVIN1	IDH1	NDN	PTEN	JAK3	SPRED1	RAD21	LETM1	ERAL1	DLL3	SNORD115-1	FOXF1	GABRD	RET	NRAS	POLR1D	NR0B1	TCOF1	COL3A1	INTU	KRAS	SALL1	PAX6	UBE3B	DHH	FLI1	GATA4	PTPN12	WNT5A	BMPR1A	INSR	DICER1	WNT3	TBX1	SLC6A17	CDKN2A	GATA3	VAC14	BAZ1B	CCDC28B	DVL3	MAP3K1	MLH1	RIPK4	SLC35A2	FGFR2	SEC24C	FIGLA	CDH1	DCC	FEZF1	RELA	PEX16	MSH3	EIF4H	ZSWIM7	KIF14	IL17RA	CCND1	TTC8	BUB1B	FGF8	NXN	MAGEL2	HYMAI	PHKG2	FOXL2	SCAPER	CEP290	BARD1	ZFPM2	CXCR4	COL5A1	CCNQ	CAV1	SIM1	PLA2G2A	ATIC	IDH2	BUB1	WDR11	FANCC	STRA6	PRKACB	BRD4	NR3C1	MBD4	SNRPN	MKRN3	TNXB	POLR1C	RAB18	MRPS22	SEMA3A	CTBP1	METTL27	ORC6	WNT4	POLD1	CLEC7A	FGFRL1	IPO8	STK11	HCCS	IFT80	PEX1	FANCL	PMM2	WNT7A	EPCAM	TBC1D20	PEX6	BCL7B	SMAD3	PEX19	CFAP418	NCF1	HOXA13	BBS1	RAB3GAP2	PTPN11	PPARG	SDCCAG8	USB1	RECQL4	PEX13	RABL3	IL10RB	PDGFRL	BMP15	POLR3H	MCM8	KIF7	FANCI	SUFU	FLRT3	IL17F	TOE1	COL1A1	HERC2	GMNN	PHGDH	THOC6	XRCC2	BMPR1B	OCA2	CBX2	ROR2	NBN	FSHR	NSUN2	PLAGL1	TBX6	PCNT	TRIM32	ANTXR2	PEX11B	HIRA	CAPN15	SALL4	OFD1	PRKCZ	SETBP1	TSC1	PEX12	FLT1	PPP2R1A	VAMP7	EVC2	POR	CEP152	ARVCF	RAD51C	MCC	CIDEC	PALLD	ORC1	CYP19A1	FANCF	COL4A6	GLI1	BUD23	RPS20	ITGA8	SLC25A24	PEX2	TYMS	ACTB	CORIN	RAB3GAP1	PPP1R12A	AGPAT2	PMS2	ESR1	FANCM	LIPE	UBE4B	BCOR	DACT1	PDE11A	RAD50	PPP2R3C	ALG9	AKT1	MLH3	MAMLD1	LHB	SOX10	ORC4	JMJD1C	RIPPLY2	CHEK2	FANCE	GAD1	FANCG	DHCR24	PEX26	IL17RC	PORCN	RPS6KA3	GFRA1	RSPO2	PIGN	BBIP1	CYP11A1	CHRNG	FGF17	FANCB	HES7	UBE2T	CASZ1	DYNC2I1	CEP19	CHRM3	TSC2	WDR35	PLG	SPECC1L	DHCR7	HSPG2	MNX1	GLI3	NPHP1	BBS5	LIG4	SPIDR	WWOX	RREB1	PARN	SMC1A	DCAF17	CD96	FREM2	HS6ST1	DYNC2H1	MLXIPL	TXNDC15	NDP	C14orf39	TBX3	CLPP	TRAF3IP2	SRC	ISL1	PRDM16	CTC1	PTCH1	ERBB2	PDPN	WRN	NPM1	FANCA	MMP14	ANOS1	ATR	MTM1	SRD5A2	CLIP2	MESP2	RFWD3	MID1	EP300	AXIN2	MT-CYB	BBS2	BRAF	DMRT3	CPLX1	BUB3	FREM1	SDHB	PWRN1	FH	GNB2	RAD54B	CDC45	WRAP53	PWAR1	NSD2	SOX11	F7	MYC	DDB1	PEX5	NSMF	TBX15	MRE11	PI4KA	B3GLCT	WNT9B	MMP23B	COMT	ELN	SF3B4	GNRH1	AKT2	IFT27	PRKAR1A	PROK2	COX7B	TLR2	IL17RD	ERCC4	BSCL2	SEMA4A	SOHLH1	LFNG	RNF43	NR2F2	BBS4	ZPR1	PRKN	MYH3	LEP	PROKR2	SDHC	BAX	TERC	APC	FOS	PHKA2	SOX3	PAX3	BBS10	BBS12	RNU12	TGFBR1	SPEN	SKI	HDAC8	RSPO1	ARID1B	MYRF	LZTFL1	NHP2	FAN1	PEX3	GTF2IRD1	NOP10	SMARCA2	POC1A	KISS1	TINF2	RTEL1	ECEL1	TRAIP	ESR2	WDPCP	SPINT2	DMRT1	LUZP1	TALDO1	UBR1	ARHGAP31	CDKN1B	RFC2	FANCD2	PRLR	TBL2	TACR3	PLIN1	TAC3	GTF2I	RAD51D	DYNC2I2	KCNAB2	ZMYM2	MOGS	HARS2	CYB5A	STX1A	ATM	DNAJC30	NPAP1	PTCH2	ESCO2	ALMS1	POLE	CEP57	RERE	COL5A2	NIPBL	FIG4	USF3	LMNB2	BNC1	SNORD116-1	IFT74	RAC3	RBM8A	HESX1	ARL6	DKC1	SMC3	AXIN1	PEX10	MDM2	POLR1B	MMP2	HSD3B2	STAG3	DYNC2LI1	GRIP1	AURKA	PEX14	SMAD4	IFT172	WNT10A	SLX4	NAB2	PDE4D	FGFR1	FLCN	BBS7	GTF2IRD2	LIMK1	BBS9	STOX1	TMEM270	PHKB	MSX1	KEAP1	KLLN	HOXD13	EWSR1	GREM1	UFD1	EVC	PRKACA
HP_ABNORMALITY_OF_THE_MALE_GENITALIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MALE_GENITALIA	ODC1	VPS37D	MECOM	CTCF	HS2ST1	RARB	PRPF4	CPLANE1	RPGRIP1	OTX2	ZNF699	KISS1R	CEP41	RNASEH2C	KCNJ6	AMH	SMARCB1	RNU4ATAC	NDUFB11	PTPN11	LMOD3	AR	PRKAR1A	FKRP	FZD2	CDT1	SLC7A14	BRCC3	DPYSL5	MEGF8	PCARE	SEC23B	ACTG2	RNF113A	STS	GP1BB	GNAS	CYP17A1	ADA2	DYNC2H1	SRY	TAPT1	MECP2	ITGA6	ANKRD11	GPR161	CCDC8	NR5A1	HNRNPR	UBA1	H19	ARID1B	FANCM	HNF1B	ARX	RNASEH2B	RPS29	POLR3A	CDC6	STAG1	LZTR1	TOPORS	BRCA2	POMT1	JAG1	ARL3	DVL1	SMCHD1	RPL35A	WT1	PRTN3	PIGN	PSMD12	WNT4	UPB1	LEPR	GDF1	NKX2-5	FKBP6	BRCA1	KIF7	CRB1	ATAD3A	HSPG2	CCND1	KDM5C	IGBP1	XRCC2	PIK3CA	ATN1	CHD7	ATP6V1A	SLC11A1	CDC73	IRF6	GJA5	RECQL4	CLP1	POMGNT2	GNRHR	AEBP1	NNT	EBP	CDH2	TRRAP	SCYL2	FLT4	IL12A-AS1	EXT2	NR2E3	PPP1CB	IGKC	FGFR1	GATA6	SOX10	TULP1	CUL4B	ERMARD	EZH2	SNRNP200	KDM6A	GABRD	STXBP1	PTDSS1	LAS1L	GJB3	RPL26	LHX4	NR0B1	TCTN3	DDB2	GSC	TCOF1	SEMA4A	KMT2D	HESX1	PDE6A	ERCC2	SAMD9	TCF4	PAX6	FARSB	THOC2	CBL	DHH	WNT5A	RSPO2	KIAA0586	INSR	TTC5	TGDS	GPC3	CDKL5	USH2A	SIX3	CCDC32	SRCAP	WDR37	TBX1	CTU2	CDKN2A	BMP2	CCDC22	DVL3	DOK7	NOTCH2	SYCE1	PHF6	MOGS	IMPDH1	FLI1	EIF4H	PTEN	CKAP2L	TTC8	MCTP2	LZTFL1	DYRK1A	KDR	NXN	RPL10L	ZIC3	INPP5E	SOX11	AHI1	POLR3K	HYMAI	IGF2	KCNH1	MC2R	CEP290	MAGEL2	BARD1	PDE6B	PITX2	MED25	IFT140	SYNE1	GALT	FDFT1	MAK	WDR11	PHIP	PRKACB	FXR1	VPS35L	GRIP1	CERKL	NEK1	HBA1	KAT5	CLDN2	SHOC2	IL10	MKRN3	HMGA2	SUFU	GLI3	MYMK	KMT5B	MAP3K7	MEG3	FGFR2	OCRL	CTBP1	RRAS2	METTL27	NDUFS4	TONSL	WDR62	MKKS	SLC25A22	RBMY1A1	GNAO1	CPLX1	PEX1	PRPF3	RBP3	PMM2	GRIA3	OTUD6B	GRIN2B	TEX11	TBC1D20	LMBR1	FAT4	FLNA	PAICS	SOX18	IFT172	ABCA4	HLA-B	NCF1	MYH3	SUZ12	NUP88	PTCH2	RAB3GAP2	EFEMP2	DUSP6	NF1	RP9	IFNGR1	RERE	GLI2	SDCCAG8	TMEM216	SMAD4	ARCN1	RAC1	KDM1A	KAT6B	TMCO1	PEX13	HRAS	KRAS	NECTIN1	MUSK	HDAC8	MCM8	OGT	GPC6	FANCI	SMG8	ERCC6	MLXIPL	B9D1	KRT5	PTCH1	TOE1	HERC2	PHGDH	ROBO1	PQBP1	FGF8	CBX2	SKI	ROR2	ITGB4	HNRNPK	STT3B	ERCC3	GATA4	SCN1B	ATRX	PLAGL1	FSHB	PTRH2	CNGA1	SGPL1	STT3A	TRIM32	RNASEH2A	LAMB3	DMPK	PEX11B	PRMT7	HIRA	RYR1	C4A	SETD5	TAF6	PNPLA6	DHX37	RAD51C	IL23R	CEP152	ARVCF	CLCN4	FANCF	BBS1	PAFAH1B1	HOXA13	GLI1	CARS1	NFIX	SMO	ARL2BP	PEX2	TYMS	HMOX1	ACTB	MAP2K1	CDKN1C	RAB3GAP1	PPP1R12A	AKR1C2	UBE2A	MMP1	NSD1	TDGF1	OCA2	UBE4B	FERMT1	DACT1	ALG8	PIGA	RPS17	ANK1	NAA10	DPF2	SAMHD1	DPAGT1	MEIOB	CFTR	JAM3	MAMLD1	TACR3	PDE11A	FANCE	EFNB1	FAM149B1	CHST14	POU1F1	RPGR	SC5D	GTF2H5	CYP11A1	FSCN2	FANCB	TP53	HES7	RBMX	TAF4B	CASZ1	KIAA0753	ORC1	DYNC2I1	WASHC5	RPS24	SPECC1L	TRIM8	FAM111A	RPS27	BTK	EYS	PBX1	ATP6V0A2	NPHP1	BBS5	TBL1XR1	LMOD1	RREB1	SRD5A2	PARN	BBS2	RIT1	POMT2	PIEZO2	HS6ST1	DIS3L2	CYP19A1	MED12L	ALG12	CDCA7	PNLDC1	USP9X	CHRNG	LARGE1	NDP	B9D2	TP63	GJA1	YY1	DHDDS	POU3F3	CLRN1	ISL1	PRDM16	MEFV	TXNRD2	COLEC11	C2CD3	IKZF1	AGBL5	ARNT2	TBCE	XPC	PCNT	KAT6A	SKIC3	GJC2	RAF1	WRN	NPM1	FANCA	ANOS1	ATR	MED13L	PDE4D	CDH1	PRKDC	XRCC4	CTDP1	LEP	CEP120	MESP2	FLG	KLHL15	MID1	LMNA	HCCS	SOX9	SYNGAP1	PROK2	DMRT3	BMP6	SPTBN1	SLC16A2	KMT2E	PWRN1	RTTN	CDC45	WRAP53	PDE8B	ERCC8	PWAR1	GMNN	SPRED2	PROP1	GNRH1	DGCR8	DNMT3A	PALB2	TSPYL1	PEX5	AAGAB	MRE11	UQCC2	STAR	ADARB1	NFIB	MMP23B	RP1L1	RLBP1	NDNF	POR	AFF4	MTM1	ELN	FKTN	AKT1	CDK8	FUZ	SNRPN	EP300	LHX1	NANOS1	B4GAT1	CDON	CASK	FOXH1	PKP1	TSPY1	ALX4	ERCC4	HBA2	BRAF	LFNG	RNF43	PLVAP	MBD5	SMARCA2	NDUFA6	BRF1	INSL3	PUF60	PROKR2	POLA1	GPR101	CILK1	FOXA2	RPS7	STX1A	KCNQ1OT1	POLE	ANKLE2	EIF5A	ADAT3	BLM	CLCN3	GLYCTK	MYMX	COG5	BBS10	SOX3	RNU12	TNRC6B	TMEM107	FBLN5	SLC9A3	SPEN	ECE1	TUB	KLHL40	RAB18	HPRT1	WNT3	MTOR	NKX2-6	MYRF	COX7B	TBX3	NHP2	PHACTR1	H4C9	NOP10	MBTPS2	NODAL	HFE	TINF2	RPL15	FGFR3	PRPS1	VEGFC	RPL11	RTEL1	TIAM1	CDC42	TMEM70	MRPS28	MAB21L2	KIAA1549	NOTCH3	WDPCP	SETD1A	VPS13B	NEK2	LETM1	DHCR7	PSMB8	MPLKIP	LUZP1	NEB	EED	MKS1	DCTN4	ABL1	RPS10	PACS2	GTF2I	GHR	CDHR1	CCBE1	ZMYM2	RNF135	KCNQ1	HHAT	CDH11	SEC23A	TEX15	LRAT	IFT88	ALMS1	INPPL1	CDC42BPB	IER3IP1	CNGB1	KARS1	LIG4	RAB23	COLEC10	PLAG1	PLEC	RIN2	LMX1B	IFT74	UPF3B	RAC3	SUCLG1	XPA	B4GALT7	MADD	TARS1	CFAP418	SOX2	SRA1	DAZ1	MDM2	ASH1L	UNG	USP7	HSD3B2	IRX5	ARL6IP6	MAP3K1	ARID2	MCM5	PEX14	ZFHX3	LAMC2	CHEK2	DPH2	NAB2	B3GLCT	AMHR2	TCF12	GTF2IRD2	LIMK1	IFIH1	RBBP8	RHO	RTL1	LRIG2	DCAF17	IGHG2	GRIN1	TMEM270	KANSL1	CLIC2	SIN3A	GAS1	DYNC2LI1	UBAC2	PIK3C2A	ZMPSTE24	VHL	PTPN22	EWSR1	GREM1	DNAJC19	EVC	PRKACA	CHRM3	SEMA3E	RGR	MTMR14	IDH3A	SDHD	KLHL10	ZBTB20	GPC4	GRIA2	SERPINA1	ZMYND15	HYLS1	STAT6	BMP4	TERT	FRAS1	SETD2	EHMT1	CAMK2A	NSD2	EDEM3	COL7A1	TSR2	DISP1	ATP6V1E1	RPS28	ZEB2	XYLT2	CCDC141	SLC39A4	OBSL1	PTPRF	FANCC	DAG1	FOXE1	DSE	TUBA1A	NTHL1	TWIST2	CREBBP	CYP11B1	PIEZO1	GLE1	RP2	RAD51	TBX22	FGF10	PIGQ	SCUBE3	LONP1	RNU7-1	KLF6	CSPP1	ARID1A	POFUT1	MAD2L2	EDNRA	EBF3	COL4A1	SPRY4	EIF2S3	MINPP1	FMR1	BRIP1	DDX3Y	NDN	MIF	SIK1	DHODH	MAP2K2	FTO	IL1RAPL1	STAC3	SPRED1	RAD21	GNA11	DLL3	SNORD115-1	FOXF1	DAZ2	RIPK4	HID1	UBR7	GRM7	POLR1D	COL3A1	INTU	SALL1	KLHL41	GRB10	NRL	GK	BMPR1A	GMPPB	DICER1	SLC26A9	LSM11	WDR35	VAC14	BAZ1B	RPS15A	CCDC28B	PAX2	BEST1	ZMIZ1	SEC24C	FBLN1	C14orf39	PRPF8	FEZF1	PEX16	H4C11	MAPRE2	KLRC4	KLF1	PSPH	KIZ	SCAPER	TGFB1	NSMF	FBXW7	HNRNPH1	SLC35D1	SIM1	ERCC5	POMGNT1	STRA6	NDUFA8	RPGRIP1L	BRD4	FAM161A	CENPT	TSHB	LSS	GUCA1B	KIFBP	POLR1C	TCTN2	CRPPA	SEMA3A	DCC	SSR4	GATA1	STAT4	ORC6	PHF21A	CLCA4	POLD1	FGFRL1	NDUFB7	KATNIP	G6PC3	MRAS	IFT80	CHD4	DGCR6	FANCL	PDE6G	WNT7A	ERAP1	PEX6	VANGL1	BCL7B	PEX19	TRIP4	RPL10	EPHB2	BCOR	DLX4	OFD1	DCX	USB1	PRRX1	OPHN1	SATB2	PROM1	SOS1	PAX7	SHH	TPM2	PSENEN	DKC1	TUBB	PIGG	FLRT3	SMARCC2	BICRA	RPL18	RPL31	NBN	NSUN2	POLG	DGCR2	DTYMK	SLC29A3	PRKCZ	SETBP1	CLMP	PEX12	PLD1	SOX4	VAMP7	EVC2	B3GALNT2	FOXC1	PRCD	DLK1	EMG1	FOCAD	FGD1	COG1	SOHLH1	DCHS1	BUD23	CCDC174	SLC25A24	TMEM63A	RPS20	SAG	CWC27	SIX6	HGSNAT	RAD50	ADAR	PPP1R15B	LHB	LARP7	NEUROD2	LAMA3	BBS4	JMJD1C	RIPPLY2	TNFRSF1A	NEXMIF	FANCG	RAPSN	DHCR24	ANAPC1	PEX26	CC2D2A	FGF17	SMS	NONO	PORCN	AHR	DAZ4	TBCK	CHRNA3	MAD1L1	HPSE2	BBIP1	ABCD4	FBXL4	CUL7	AXL	UBE2T	FBN1	ZFPM2	TLR4	CEP19	PRPF31	BNC2	SMARCA4	SOS2	PHF8	LHCGR	WWOX	MED12	POMK	NKAP	RRAS	SCN2A	REEP6	ADGRG2	SMC1A	CEACAM6	KDM5B	CD96	LAMA5	TCTN1	GDF6	ORC4	PRDM13	FREM2	GFM2	ZDHHC9	RNASEL	IMPG1	GCLC	FARS2	PACS1	HLA-DPB1	AGA	DMXL2	HDAC4	FLNB	ASXL3	CTC1	GTF2E2	APC2	PRPH2	RPE65	PDPN	MDFIC	NALCN	GATAD2B	HSD17B3	CLIP2	FIG4	GATA5	RFWD3	SMARCD1	H1-4	VPS50	RXYLT1	PDE6D	GBA2	SPATA7	ALKBH8	SDHB	AP1S2	ADAMTS3	POGLUT1	NRAS	GNB2	BDNF	ARHGEF18	KCNN4	MYLK	MRAP	ZIC2	CYB5A	TASP1	TMEM67	ROM1	TBX15	DYNC2I2	RPS19	CA4	ZNF513	MXI1	SLC6A14	COMT	CCDC34	IFT27	KLHL7	IL17RD	HUWE1	ZSWIM6	ERCC1	SMARCE1	RLIM	NR2F2	PIGP	MERTK	DNM2	HLA-DPA1	MYH11	ZPR1	CRX	THOC6	CEACAM3	APC	KDM3B	TBX4	SDHC	SMARCAL1	TERC	RP1	LMNB2	TGIF1	TXNDC15	MYOD1	DDX59	RPS26	FANCD2	PRPF6	BBS12	LTBP1	ATP6AP2	RDH12	USP9Y	TDRD9	ALDH18A1	IMPG2	RSPO1	WFS1	AIP	PSMC1	RORA	ANGPT2	PEX3	GTF2IRD1	TMEM94	KISS1	MYL11	ZSWIM7	MAPK1	ACTA2	SLC34A2	CTLA4	TEX14	CITED2	CPE	RPL27	SLC25A10	MASP1	DMRT1	TWIST1	SLX4	TBCD	UBR1	TMEM237	CDKN1B	SLC19A2	HGD	RFC2	DDX6	TBL2	PPFIBP1	BLTP1	TAC3	RAD51D	KCNAB2	SIAH1	TREX1	ALDH1A2	TFAP2A	BIN1	NELFA	DLL1	KDM6B	ARL6	RBM10	EPG5	MAF	AUTS2	RPL5	ATM	KCNA1	DNAJC30	NPAP1	ESCO2	ESS2	DAZ3	NIPBL	AKR1C4	USF3	YWHAE	ACTA1	H4C5	SNORD116-1	SYCP3	IL12A	MNX1	TOGARAM1	GJB4	PYCR1	METTL23	SMC3	PEX10	PRIM1	SLC26A2	HERC1	POLR1B	BRWD3	DNAJC21	RASA2	ZNF408	TMEM231	SMOC1	GSTM3	CCR1	MYF6	NKX2-1	BBS7	KDSR	BBS9	COL14A1	SLC18A3	HIBCH	IDH3B	NEDD4L	DHX38	RPL35	MAB21L1	OTUD5	STK11	PIGS	KEAP1	KLLN	HOXD13	ADNP	UFD1	BUB1B	FAS	PNKP	CYP21A2
HP_APLASIA_HYPOPLASIA_OF_THE_OVARY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_OVARY	BBS2	GNRH1	HS6ST1	ZSWIM7	BBIP1	DMRT3	PPP1R12A	WDPCP	FOXL2	ERAL1	DHH	FIGLA	IFT27	CFAP418	TP63	IFT172	C14orf39	WT1	BBS1	TRIM32	PROK2	CHD7	SPIDR	NR5A1	DUSP6	BNC1	PSMC3IP	LEPR	BBS7	NUP107	ZFPM2	BBS10	TTC8	BBS12	PTPN11	MRPS22	CEP19	NR0B1	BBS9	AR	SETBP1	SDCCAG8	FGF8	WDR11	NOBOX	MKS1	IFT74	VAMP7	FGFR1	KISS1R	SPRY4	DHX37	MKKS	PAX6	SCAPER	BMP15	POLR3H	TACR3	GATA4	FGF17	NPHP1	LZTFL1	BBS4	TAC3	MCM8	BBS5	SRY	ZPR1	CEP290	NSMF	WWOX	FSHR	LEP	ARL6	GNRHR	KISS1	ALG9	PROKR2	SOX9	PMM2	DCAF17	NDNF	LARS2	HARS2	STAG3	MAP3K1
HP_APLASIA_OF_THE_OVARY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_OVARY	TP63	AR	PTPN11	PMM2	PSMC3IP
HP_STREAK_OVARY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STREAK_OVARY	ZSWIM7	PAX6	DMRT3	PPP1R12A	FOXL2	BMP15	POLR3H	ERAL1	DHH	GATA4	FIGLA	SRY	WT1	SPIDR	NR5A1	WWOX	FSHR	BNC1	PSMC3IP	NUP107	ZFPM2	MRPS22	NR0B1	SOX9	DCAF17	SETBP1	NOBOX	HARS2	STAG3	VAMP7	MAP3K1	DHX37
HP_PRECOCIOUS_PUBERTY_IN_FEMALES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRECOCIOUS_PUBERTY_IN_FEMALES	GRIA1	CYP17A1	PPARG	AGPAT2	ALMS1	FOS	CAVIN1	BSCL2	CAV1
HP_ABSENT_TESTIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_TESTIS	BRCA1	BRCA2	FANCB	TCTN3	MAD2L2	FANCA	UBE2T	FANCM	FANCI	FANCE	FANCF	SLX4	FANCG	BRIP1	ERCC4	FANCL	RAD51	RFWD3	RAD51C	GDF6	XRCC2	PALB2	FANCC	FANCD2	DHX37
HP_OLIGOSACCHARIDURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OLIGOSACCHARIDURIA	SNX14	FUCA1	OCRL	NEU1	MANBA	GAA	MAN2B1	GLB1
HP_ABNORMAL_CIRCULATING_PORPHYRIN_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_PORPHYRIN_CONCENTRATION	PPOX	GATA1	ALAS2	ALAD	UROS	CPOX	UROD	FECH
HP_PORPHYRINURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PORPHYRINURIA	PPOX	GATA1	HFE	UROS	UROD	CPOX	SLCO1B3	HMBS	SLCO1B1
HP_APLASIA_HYPOPLASIA_OF_THE_BLADDER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_BLADDER	WNT4	GRIP1	ITGB4	ALG9	MKS1	MED12	LAMA3	MBTPS2	FREM2	LAMC2	CC2D2A	ITGA6	LAMB3	PLEC
HP_APLASIA_OF_THE_BLADDER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_BLADDER	FREM2	ITGB4	CC2D2A	ITGA6	PLEC
HP_URETHRAL_FISTULA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETHRAL_FISTULA	DYNC2I2	IFT80	MID1	DYNC2H1	WDR35	DYNC2I1	UBR1	RNU12
HP_URETHRAL_VALVE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETHRAL_VALVE	HPSE2	CHRM3	SRCAP	SALL1	NSD1	SETD2	BNC2	MID1	IGF2	DACT1	APC2	HNRNPH1
HP_HYPEREXTENSIBILITY_AT_ELBOW	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPEREXTENSIBILITY_AT_ELBOW	CAMTA1	HYAL1	IFITM5	COL5A1	KMT2A	SON
HP_ABNORMALITY_OF_THE_HYPOTHENAR_EMINENCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_HYPOTHENAR_EMINENCE	TRAPPC11	RPL11	AAAS	GMPPA	FGD4	EIF4A3
HP_APLASIA_HYPOPLASIA_OF_THE_PALMAR_CREASES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_PALMAR_CREASES	PIEZO2	MYH3	CHST14	PLOD3	DOK7	SLC39A13	NALCN	SLC18A3	MUSK	AUTS2	DSE	TUBA1A	NUP88	RIPK4	MYOD1	RAPSN
HP_ABSENT_PALMAR_CREASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_PALMAR_CREASE	PIEZO2	SLC39A13	MYH3	NALCN	SLC18A3	MUSK	DOK7	TUBA1A	NUP88	RIPK4	MYOD1	RAPSN
HP_SIRENOMELIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SIRENOMELIA	PTEN	AKT1	ATP6V1B2	GFRA1	TBC1D24	FGF20	DACT1	RET	WNT9B	GREB1L	ITGA8
HP_PATELLAR_SUBLUXATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATELLAR_SUBLUXATION	COL12A1	FBN2	USP9X	YY1	DNMT3A	TBC1D7
HP_HYPEREXTENSIBILITY_OF_THE_KNEE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPEREXTENSIBILITY_OF_THE_KNEE	AP4B1	COMP	AP4M1	COL1A2	CSGALNACT1	FGFR3	NRAS	PRR12	AP4E1	ELN	MEFV	WASF1	MAN2C1	FBN1	CFL2	CDT1	TRIP11	MCOLN1	ORC1	FGD1	PTEN	ANO5	TNFRSF1A	CANT1	CHST3	B4GALT7	AP4S1	SLC6A9	ALDH18A1	SKI	SH3PXD2B	LMX1B	HRAS	CTDP1	GRIA3	COL5A1	XYLT1	FBLN5	KRAS
HP_LIMITATION_OF_KNEE_MOBILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITATION_OF_KNEE_MOBILITY	SCN2A	SCN1A	COL9A3	SCN9A	ASAH1	EZH2	VCP	DYM	CSGALNACT1	TOR1A	MYOT	HCN1	HGD	EXT2	FLNA	PCDH19	GABRG2	SCN1B	MAP3K7	FLNC	DYSF	GABRD	GPC6	GABRA1	FBN2	STX1B	COL2A1	ECEL1	ADGRV1	ATP7A	EXT1	DPYSL5
HP_FIBULAR_BOWING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FIBULAR_BOWING	CLCN5	COL11A2	CILK1	VDR	SLC34A3	FGFR3	PHEX	CYP27B1	CYP2R1
HP_LIMITATION_OF_MOVEMENT_AT_ANKLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITATION_OF_MOVEMENT_AT_ANKLES	ZMPSTE24	MYH7	OCA2	UBE3A	MAP3K7	LMNA	NIPA1	FLNA
HP_METATARSUS_VALGUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METATARSUS_VALGUS	POMK	POMT1	AKT1	BMPR1B	NAA10	POMGNT2	GDF5	POMGNT1	DAG1	B4GAT1	CRPPA	PTEN	TGDS	COL4A1	HSPG2	INPP5K	FKRP	LARGE1	RXYLT1	POMT2	FKTN	B3GALNT2	SIL1
HP_LONG_TOE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_TOE	POLR3A	FIBP	GNE	NPR3	NPR2	GATAD2B	COL6A2	KCNH1	COL12A1	PHF8	FAM20C	SOX5	FLI1	PAPPA2	FBN1	IPO8	KMT5B	PRKAR1A	DLK1	B4GALT7	RTL1	SMARCA2	PUF60	SMS	KCNN3	SCARF2	COL6A3	CPT2	ZEB2	XYLT2	COL6A1	GNAI1	MEG3	LARS1	TMEM94	NKX3-2	TBX4	KAT6B	IRX5	POLR3GL	NSDHL	DPM1	PTH1R
HP_HYPERPITUITARISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPITUITARISM	FSHR	NANOS1	SRY	CYP11A1	DMRT3	SMARCE1	PNLDC1	SHOC1	FSHB	KLHL10	TSHB	TAF4B	PRKAR1A	DHH	NR5A1	ZMYND15	AIP	AR	PIK3CA	BNC1	TERT	PSMC3IP	KCNJ11	SMARCB1	FGD1	NUP107	ZFPM2	MRPS22	NR0B1	SLCO2A1	GCNA	SYCP3	ABCD1	MSTO1	FMR1	CDKN1B	VAMP7	DHX37	TDRD9	POR	TRHR	GATA4	HPGD	BAP1	GNAS	CYP17A1	MSH4	NSMCE2	CNBP	SMO	SPIDR	SOHLH1	WWOX	CBX2	KISS1R	PMM2	LHCGR	PDGFB	LARS2	CDKN2B	FANCM	HSD3B2	STAG3	TEX14	MAP3K1	POLR3A	ZSWIM7	CCDC34	MEN1	ESR2	FOXL2	CDH23	TEX15	FIGLA	SYCE1	GDF9	ESR1	HFM1	C14orf39	GPR101	TRAF7	WT1	SUFU	ERCC6	IGF1	CTNNB1	AKT1	BRAF	PPP2R3C	MCM9	XRCC2	CDKN1A	MEIOB	FKBP6	PRLR	NF2	BMP15	POLR3H	TEX11	LHB	MCM8	PDE11A	MSH5	MCM4	DIAPH2	POLA1	CFTR	SOX9	CDKN2C	CYB5A	BMPR1B	HSD17B4
HP_APLASIA_HYPOPLASIA_OF_THE_THYMUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_THYMUS	RAG2	IL2RG	AK2	PI4KA	PLXND1	DCLRE1C	SKIC2	WIPF1	POLR3A	RAG1	TBX2	SEC24C	TTC7A	GP1BB	TBX1	ARVCF	CHD7	ATM	JMJD1C	TP63	RORC	G6PC3	NEK9	ANTXR2	ADA	LTBP4	RREB1	SKIC3	PEX5	POLR1B	POLR1C	HIRA	POLR1D	TCOF1	MCM10	NKX2-6	COMT	UFD1	NSMCE3	WAS
HP_THYMUS_HYPERPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THYMUS_HYPERPLASIA	PTEN	AKT1	ALG14	MTHFR	VANGL2
HP_DYSLEXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSLEXIA	VPS41	C9orf72	PNKP	MAPT	PLA2G6	PSEN1	GCLC	TMEM106B	GRN	SPTBN1	OPA3	TREM2	NIPA1	GABRB3	SQSTM1	NIPA2	GABRG2	CACNA1H	FRMD5	SLC2A1	TCF12	GABRA1	TUBG1	VPS13D	SARDH	APC	MAP1B	STIM1	JRK	DNAAF4	CHMP2B	VCP
HP_ALEXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALEXIA	C9orf72	PSEN1	TMEM106B	VCP	CHMP2B	GRN	MAPT	TREM2
HP_AGNOSIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGNOSIA	PMS1	TREM2	TGFBR2	TYROBP	MSH2	PSEN2	PSEN1	TMEM106B	SORL1	PMS2	CEP85L	FAN1	MLH1	ATP6AP2	MAPT	ABCD1	TOMM40	MSH6	APOE	EPCAM	BMPR1A	RPS20	KRAS	EPRS1	SEMA4A	C9orf72	ABCA7	MLH3	PIK3CA	CHMP2B	APP	GRN
HP_FINGER_AGNOSIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FINGER_AGNOSIA	PSEN1	ABCA7	TREM2	PSEN2	APP	TOMM40	SORL1
HP_DYSGRAPHIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSGRAPHIA	PMS1	DNAJC30	BCL7B	MLXIPL	TGFBR2	VPS37D	PSEN2	PSEN1	TMEM106B	GRN	SPG21	SORL1	PMS2	NCF1	MLH1	CHMP2B	TOMM40	EIF4H	C9orf72	GTF2IRD2	LIMK1	BMPR1A	SOX6	FKBP6	SEMA4A	TMEM240	METTL27	ABCA7	MLH3	RFC2	MAPT	PIK3CA	APP	VCP	TBL2	TMEM270	TREM2	MSH2	GTF2I	FAN1	GTF2IRD1	SQSTM1	MSH6	BUD23	CLIP2	EPCAM	RPS20	KRAS	FGF14	STX1A	BAZ1B	ELN
HP_ECHOLALIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECHOLALIA	UBE2A	C9orf72	PLEC	NAGS	PDZD8	SNAP25	SLC25A13	MAPT	GRIK2	ACTB	SMARCA2	COX7B	TCF4	CHD8	GRN	CYLD	ADAMTSL2	SPTBN1	FGFR1	PUF60	COL1A2	HDC	TREM2	HCCS	SLC35C1	SQSTM1	RAI1	COL1A1	FLCN	CKAP2L	SLITRK1	TMEM106B	ADAMTS2	HERC2	NDUFB11	EHMT1	ATP6AP2	KRAS	PSEN1	ACTG1	AMER1	VCP	CHMP2B
HP_TRANSIENT_GLOBAL_AMNESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRANSIENT_GLOBAL_AMNESIA	PIK3CA	BAP1	CTSH	TERT	SMARCB1	NF2	SMARCE1	AKT1	TNFSF4	P2RY11	HLA-DQB1	HLA-DRB1	MOG	PDGFB	ZNF365	SMO	YY1	TRAF7	SUFU	MEN1	HCRT
HP_SLEEP_APNEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLEEP_APNEA	NPAP1	PRKAR1B	PCGF2	ARSB	CTSK	NACC1	SH3BP2	CDC42BPB	SNORD115-1	SNRPN	ASCL1	NGLY1	ABCC9	COL3A1	NEFH	IDS	MKRN3	PWRN1	GNE	COLQ	SLC18A3	GNAI3	PRMT7	CACNA1I	CHAMP1	H4C5	FBXO28	FGFR2	SNORD116-1	PWAR1	COL13A1	CACNA1C	RET	POGZ	C2CD3	SYT1	DPH1	ASXL1	DNA2	MAGEL2	ATP1A2	VPS51	DCTN1	ARL3	CREBBP	EXOC2	FGFR3	TCF4	SLC25A1	AIP	GRB10	CHAT	CCDC47	DDB1	IDUA	ZBTB7A	AFF4	NALCN	AHDC1	DKK1	SPOP	CEP57	NFIX	SKI	BMP2	GABRG2	UNC80	LARP7	SRPX2	SLC5A7	SNAP25	CDK13	USP7	COQ2	TERT	OCA2	GNPTAB	SATB2	GRIN2A	PHOX2B	EP300	NOTCH3	RPS6KA3	LAMB2	VAMP1	GPR101	RAI1	AGRN	TWIST1	EDN1	PIGT	CTNNB1	RERE	PRPH	NDN	PRPS1	GRIN1	BRAF	SOD1	TRPV4	PLCB4	ARCN1	HRAS	MED27	NADK2	DPH5	LRRC32	DMD	MRPS34	PRR12	GUSB	ATN1	LRPPRC	SIN3A	NONO	RUNX2	LTBP3	SYT2	HERC2	FLCN	MCM3AP	ZMYM2	TSPYL1	BICD2	SIM1	GSN	MYO9A	CA2	FXR1	P4HTM
HP_CENTRAL_SLEEP_APNEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_SLEEP_APNEA	MAGEL2	PHOX2B	FGFR3	SLC25A1	ASCL1	CHAT	COQ2	NGLY1	LRPPRC	VAMP1	CCDC47	AGRN	USP7	SLC18A3	SYT2	PIGT	DKK1	CACNA1I	SLC5A7	PRPS1	SNAP25	FBXO28	CDK13	COL13A1	SIM1	CACNA1C	MYO9A	RET	NADK2
HP_WIDE_CRANIAL_SUTURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDE_CRANIAL_SUTURES	ALPL	POLR3A	ALDH18A1	CYP27B1	MSX2	SETBP1	AGT	MMP2	SLC34A3	ACE	FIG4	CYP2R1	MED12	ZMPSTE24	LMNA	AGO2	DCHS1	PEX1	CRTAP	REN	RBM10	AGTR1	FAT4	VAC14	VDR	BANF1
HP_OPSOCLONUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPSOCLONUS	FRMD5	CLCN7	TCIRG1	KIF1B	GBA1	TMEM240	SNX10	TNFSF11
HP_VERTICAL_NYSTAGMUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERTICAL_NYSTAGMUS	TMEM106B	AHDC1	ANO10	PRRT2	RFC1	ALX4	CACNA1A	PIGN	MRE11	ECHS1	PET100	COQ2	PEX5	NDUFS8	TTBK2	PLA2G6	PIGQ	FGF14	SCN1A	ATP1A2
HP_DOWNBEAT_NYSTAGMUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DOWNBEAT_NYSTAGMUS	COQ2	ANO10	CACNA1A	PLA2G6	RFC1
HP_MUSCLE_FIBRILLATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_FIBRILLATION	CHCHD10	EXOSC3	TFG	SMN1	EXOSC9	SLC52A2	MTMR14	CFL2	SLC52A3	AGTPBP1	MYF6	VRK1	HINT1	PRUNE1	SBF1	MEGF10	ATP1A2	NOP56	SH3TC2	TBCD	VCP	TBC1D24	RMND1	RYR1	GARS1	EGR2	MPZ	ATXN3	ATP11A	SETX	SYT2	CCNF	UBA1	AIFM1	HSPB1	TWNK	POLG	EXOSC8	PRRT2	PRX	KCNK9	SPTLC1	NDUFS4	DNM2	TRAK1	SLC25A46	LGI3	TSPYL1	OPTN	SMN2	PMP22	IFRD1	DYSF	ADPRS	TOE1	ASAH1	ATXN10	CACNA1A	BIN1	SLC25A21	VWA1	GYG1	FXR1	SCN1A
HP_MUSCLE_FLACCIDITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_FLACCIDITY	KCNJ5	SCN4A	COL1A1	PLEC	CACNA1S	LAMP2	PEX1	COL1A2	KCNJ18	KCNJ2	PEX6	INPP5K	KCNE3	GABRA3	UBE3B	SIL1
HP_PERCUSSION_MYOTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERCUSSION_MYOTONIA	SCN4A	CLCN1	CAVIN1	HSPG2	DNAJB6	HINT1	CAV3	SVIL
HP_WEAKNESS_DUE_TO_UPPER_MOTOR_NEURON_DYSFUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WEAKNESS_DUE_TO_UPPER_MOTOR_NEURON_DYSFUNCTION	PMS1	EOGT	MT-ND4	HPRT1	PNPLA6	SMARCE1	FGF17	NDUFA9	SPG7	AASS	HSPD1	PI4KA	SETX	TREX1	MT-ND6	KCNT1	SLC2A1	ALS2	CASZ1	CFH	DOCK8	PRF1	MEOX1	OPA3	RNASEH2C	SPG11	FARS2	KCNJ6	CYP2U1	TLR4	RTN2	SNORD118	ALDH18A1	NDUFS7	KRAS	MT-TC	NIPA1	TSC2	FAR1	PLP1	ENPP1	IFIH1	SPATA5L1	IQCB1	PDHX	SLC25A15	CYP26C1	TBK1	HSPG2	MFSD2A	NDUFA13	MSH2	MT-TL1	TRAPPC4	HMGCL	LIMS2	COX15	L2HGDH	KLC2	SMO	MECP2	ATP13A2	DOCK6	CCDC141	GJA1	TLR3	ENG	SPOP	ALG3	SUOX	NDUFA2	STAMBP	THSD1	VCP	RDH12	GUF1	NDUFA12	RNASEH2B	MT-CO1	PRPS1	TBCE	CRB1	FLRT1	NDUFAF2	CPT1A	KPNA3	LMNB1	KIF1A	CARS2	NOTCH1	CPT1C	PRTN3	DUSP6	NT5C2	LRP4	RRM2B	SLC30A10	GDF6	WASHC5	ABCC6	PLA2G6	EARS2	AMACR	BAP1	POMT2	MT-ND5	INTS8	PRDM16	TXNRD2	FA2H	HLA-DPB1	CLTC	SLC1A3	ARNT2	C9orf72	AIMP1	PIK3CA	TGFBR3	ARL6IP1	NMNAT1	ANGPTL6	MT-TK	GTF2E2	RNU7-1	NF2	SOX3	NAGA	KDM5C	NDUFA10	HLA-DQB1	PDPN	DYM	COA8	DDHD2	SMARCAL1	NDNF	CYP7B1	MT-TS2	ANOS1	SPRY4	MT-TW	EIF2S3	GNB1	BCAS3	ARX	GAMT	AIFM1	USP8	MOCS1	NNT	POLG	NDUFS3	LARGE1	TUBB2B	PNP	GJB1	PGAP1	VAMP1	IL12A-AS1	MT-TQ	NUP107	RANBP2	MT-CYB	MAN2B1	LCA5	NDUFA4	PAX3	PHYH	SOX10	GBE1	STAT4	CFHR3	SRPX2	OPA1	LAGE3	GABRD	SOX4	STXBP1	TTPA	PRUNE1	KCNJ13	ATP1A2	CFHR1	CCDC88C	HLA-B	COQ2	COASY	SMARCB1	AP4B1	WDR45B	MRAP	OSGEP	NDUFV1	AFG3L2	GSS	SAMD9	ABCD1	KIDINS220	AP5Z1	GOT2	SLC12A6	REEP1	PSEN1	FGFR1	SLC19A3	RBPJ	KCNJ18	PDHA1	TBC1D24	ARHGAP31	AP4S1	TULP1	ERLIN2	MTRFR	MSH6	APOE	STAR	TOE1	SPAST	GJC2	SP110	LSM11	MTOR	NDUFS8	TBX1	IDUA	WDR45	GPT2	MMP23B	COL4A1	PPOX	TRMT10A	CCT5	DSTYK	POLR3GL	DCC	PET100	ATL1	GMPPB	LRAT	CACNA1D	NOTCH3	WDR73	IRAK1	SLC16A2	UBAP1	POMT1	NADK2	SDHAF1	FBLN1	TRAF7	FEZF1	ATP6V1A	L1CAM	DNM1L	CKAP2L	IL17RD	ARSI	PEX3	BMPR1A	KIF5A	ADA2	SEMA4A	RAB3GAP2	C19orf12	BSCL2	MT-TF	CBS	KLRC4	NFU1	CAPN1	EXOSC8	POLR3K	SDHD	AP4E1	LYST	SPART	MC2R	HLA-DPA1	GFAP	AMPD2	ATP6AP2	NDUFS4	PROKR2	MMUT	CHCHD10	NDUFAF5	ENTPD1	SLC1A2	LYRM7	POMGNT1	SLC33A1	WDR11	NDUFA8	IKBKG	DNASE1L3	NDUFV2	PCYT1A	ARSA	PAH	FUS	CACNA1A	HPDL	PAFAH1B1	IL10	B3GALT6	AFF3	FGF8	AIPL1	PDGFRB	PEX7	SPATA7	RNF170	MT-ATP6	SEMA3A	RHOBTB2	SPEN	GNAQ	AUH	ARG1	UCHL1	DLL4	SKI	MAG	PSAP	RPE65	AGTPBP1	TSC1	MT-CO3	SDHA	MT-TH	ARFGEF2	MARS1	ATP1A3	FAN1	PHACTR1	WDR62	SLC18A2	MICOS13	AKT3	ADAR	LIPT2	MTPAP	GM2A	NUP62	EDNRB	GTF2H5	PDGFB	SOD1	CTLA4	VPS37A	MTFMT	ERAP1	GBA2	SCN5A	PSAT1	TECPR2	NF1	ELOVL1	NAGS	LAMB1	COL4A2	TPRKB	NEK1	KY	SLC25A10	MLH1	ZFYVE27	SCN1A	MT-TV	PPP1R15B	IFT140	IBA57	MPLKIP	FOXRED1	TACO1	IFNGR1	RERE	FKTN	SMC1A	TBCD	LUZP1	AKT1	RD3	TFG	SPP1	WDR4	ZFYVE26	HACE1	PRRT2	B3GALNT2	TTC19	RNF216	IMPDH1	TUBB4B	RASA1	MRM2	TACR3	DOLK	KCNAB2	FLRT3	UGP2	KCNQ2	GDF3	USP45	DPYD	ASAH1	PRORP	GBA1	NDUFS2	CEP290	ERCC3	PROK2	ADGRG1	NUP133	NDUFS1	CHD7	NAXE	NOTCH2NLC	LIPT1	RNASEH2A	PRNP	SPG21	PTEN	TERT	HSD17B10	RNF220	TNFRSF11A	SLC35A2	TRAPPC2L	PRKCZ	SDHB	C4A	PNPLA8	TARDBP	LMX1B	TMEM222	IL12A	ZFR	SQSTM1	HESX1	AP4M1	IL23R	TARS1	SOX2	HS6ST1	MEFV	CACNA1S	GIPC1	BCAP31	B4GALNT1	DDHD1	NPPA	RPGRIP1	CARS1	NHLRC2	MT-ATP8	EPCAM	GAN	RPS20	SARDH	CTC1	SELENOI	TNR	GALC	ERCC2	TGFBR2	RNF113A	GUCY1A1	TP53RK	GUCY2D	OTX2	PMS2	CYP27A1	NDUFAF6	CCR1	REEP2	TP53	SUFU	FKRP	HINT1	MT-CO2	UBE4B	BCOR	TPP2	ATRX	WDR48	HTRA1	MT-ND1	MED13L	TTR	BTD	PEX16	MLH3	SAMHD1	ALDH3A2	ATP5MC3	CRX	FUZ	PRDM8	ABHD16A	ECHS1	GAD1	NEXMIF	UBAC2	SURF1	PTPN22	PNKP	HRAS	CA2	BUB1B	COL3A1	FAS	MTHFR	GABRA3
HP_PARAPLEGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARAPLEGIA	NDUFV2	PNPLA6	SLC33A1	SPART	CCDC141	FGF17	NDUFA9	HSPD1	PI4KA	PAH	SETX	HPDL	FA2H	B3GALT6	KIF1A	FGF8	DSTYK	RNF170	SPG11	FARS2	CYP2U1	RTN2	MT-ATP6	ALDH18A1	NDUFS7	SEMA3A	DCC	NIPA1	PAX3	UCHL1	MAG	AP4B1	PDHX	SLC25A15	NDUFA13	SDHA	MARS1	SLC2A1	COX15	KLC2	MECP2	ATP13A2	ALS2	NDUFA2	VPS37A	NDUFA12	MTFMT	GBA2	FLRT1	TECPR2	ELOVL1	NDUFAF2	NAGS	LAMB1	KPNA3	KY	CPT1C	DUSP6	ZFYVE27	NT5C2	WASHC5	IBA57	AP5Z1	FOXRED1	INTS8	KIDINS220	L1CAM	RNASEH2B	ARL6IP1	ZFYVE26	KDM5C	HACE1	NDUFA10	DDHD2	NDNF	RASA1	CYP7B1	TACR3	ANOS1	SPRY4	FLRT3	USP8	SPG7	NDUFS3	PGAP1	PLP1	VAMP1	GBA1	MAN2B1	NDUFA4	NDUFS2	PROK2	BSCL2	NDUFS1	CHD7	OPA1	NOTCH2NLC	LIPT1	SPG21	REEP1	VCP	AP4E1	RNF220	WDR45B	TACO1	NDUFV1	ZFR	SAMD9	AP4M1	ABCD1	HESX1	MTRFR	HS6ST1	SLC19A3	PDHA1	GIPC1	AP4S1	B4GALNT1	DDHD1	ERLIN2	TOE1	SPAST	GJC2	SP110	GAN	NDUFS8	SELENOI	GPT2	CCT5	PET100	ATL1	CACNA1D	SLC16A2	UBAP1	NDUFAF6	STXBP1	REEP2	C19orf12	FEZF1	FGFR1	DNM1L	CKAP2L	IL17RD	ARSI	PEX3	ATRX	KIF5A	WDR48	RAB3GAP2	TTR	ATP5MC3	CAPN1	AIFM1	FUZ	LYST	SOX10	ABHD16A	AMPD2	ECHS1	TFG	SURF1	NDUFS4	PROKR2	NDUFAF5	ENTPD1	WDR11	GBE1
HP_PARAPLEGIA_PARAPARESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARAPLEGIA_PARAPARESIS	NDUFV2	PNPLA6	SLC33A1	PLP1	SPART	CCDC141	FGF17	NDUFA9	SPG7	HSPD1	PI4KA	PAH	SETX	FUS	HPDL	FA2H	GJC2	B3GALT6	KIF1A	FGF8	DSTYK	OPA3	RNF170	RNASEH2C	SPG11	FARS2	CYP2U1	RNU7-1	RTN2	MT-ATP6	ALDH18A1	NDUFS7	SEMA3A	DCC	NIPA1	PAX3	COASY	ARG1	UCHL1	MAG	AP4B1	PDHX	SLC25A15	NDUFA13	SDHA	MARS1	SLC2A1	COX15	KLC2	MECP2	ATP13A2	MICOS13	GJA1	ALS2	MTPAP	NDUFA2	EDNRB	GTF2H5	VCP	VPS37A	NDUFA12	MTFMT	RNASEH2B	TBCE	GBA2	FLRT1	TECPR2	NF1	ELOVL1	NDUFAF2	NAGS	LAMB1	KPNA3	KY	CPT1C	DUSP6	ZFYVE27	NT5C2	SLC30A10	WASHC5	PPP1R15B	IBA57	MPLKIP	AP5Z1	FOXRED1	INTS8	CLTC	KIDINS220	L1CAM	C9orf72	AIMP1	ARL6IP1	GTF2E2	ZFYVE26	KDM5C	HACE1	NDUFA10	TTC19	DDHD2	NDNF	RASA1	CYP7B1	TACR3	ANOS1	SPRY4	FLRT3	GAMT	TREX1	USP8	POLG	NDUFS3	PNP	GJB1	PGAP1	VAMP1	ASAH1	GBA1	MAN2B1	NDUFA4	SOX10	NDUFS2	ERCC3	PROK2	ADGRG1	BSCL2	NDUFS1	CHD7	SRPX2	OPA1	NOTCH2NLC	LIPT1	RNASEH2A	SPG21	PRUNE1	CCDC88C	REEP1	AP4E1	RNF220	TNFRSF11A	WDR45B	SDHB	TACO1	ABCD1	TARDBP	NDUFV1	AFG3L2	ZFR	SQSTM1	SAMD9	AP4M1	HESX1	MTRFR	GOT2	TARS1	HS6ST1	SLC19A3	PDHA1	GIPC1	AP4S1	B4GALNT1	DDHD1	ERLIN2	CARS1	TOE1	SPAST	SP110	LSM11	GAN	NDUFS8	IDUA	WDR45	SELENOI	GPT2	TRMT10A	CCT5	POLR3GL	PET100	ATL1	GALC	ERCC2	CACNA1D	RNF113A	SLC16A2	CYP27A1	UBAP1	NDUFAF6	STXBP1	TBK1	SDHAF1	REEP2	C19orf12	FEZF1	BCOR	FGFR1	DNM1L	CKAP2L	IL17RD	ARSI	PEX3	ATRX	IFIH1	KIF5A	WDR48	MED13L	RAB3GAP2	TTR	BTD	PEX16	SAMHD1	ADAR	ALDH3A2	ATP5MC3	CAPN1	AIFM1	SDHD	FUZ	LYST	ABHD16A	GFAP	AMPD2	ECHS1	TFG	ATP6AP2	SURF1	NDUFS4	PROKR2	CHCHD10	NDUFAF5	PRPS1	ENTPD1	FAR1	WDR11	MTHFR	GBE1
HP_OCULOGYRIC_CRISIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCULOGYRIC_CRISIS	DNM1L	SLC6A3	ACTB	SLC18A2	PCBD1	ATP13A2	GRIN1	TH	TSPOAP1	PTS	SPR	DDC	DNAJC12
HP_CUTANEOUS_FINGER_SYNDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTANEOUS_FINGER_SYNDACTYLY	PAX3	HOXD13	FRAS1	FGFR2	CHSY1	LMBR1	GLI3	TP63	LRP4	PIEZO2	ORC1	CDH11	H4C9	IRF6	CCBE1	KAT6A	NECTIN1	DCHS1	KCTD1	SETBP1	NOG	WDR19	PPP2R3C	CACNA1C	LEMD3	FAT4	TWIST1	NECTIN4	MEGF8	CHUK	ROR2	TWIST2
HP_OVERLAPPING_FINGERS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVERLAPPING_FINGERS	SAMD9	TNNT3	TNNI2	MECOM	MADD	PPP1R21	BLTP1	ATN1	TPM2	CNTN1	MOGS	OTUD5	MYOD1	DOK7	CHST11	NEK9	NALCN	MED25	MYH3	EBP	TMEM94	PLOD3	EVC2	PI4KA	MYBPC1	PTF1A	PRKDC	CTU2	SETBP1	COG7	BICD2	EVC	ALG12	FLNA
HP_KELOIDS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KELOIDS	CREBBP	LEMD3	EP300	MAP3K7	NOTCH3	APC	COL7A1	ATP7A	FLNA
HP_BIFID_EPIGLOTTIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIFID_EPIGLOTTIS	DYNC2I2	IFT80	DYNC2H1	FOXE1	WDR35	DYNC2I1	GLI3
HP_APLASIA_HYPOPLASIA_OF_THE_EPIGLOTTIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_EPIGLOTTIS	FGF10	NEK1	CILK1	DYNC2LI1	SF3B4	EIF4A3	GLI3	C2CD3	SETBP1	FGFR3	PRRX1	FGFR2
HP_HAMARTOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAMARTOMA	PIK3CA	SDHB	PTCH2	PCGF2	KLLN	TSC1	GCDH	SDHD	CPLANE1	PAK2	NF1	VHL	APC	PTEN	MVK	BMPR1A	USF3	KIAA0753	COL18A1	BRAF	TMEM127	IDH1	MDH2	CCBE1	ADAMTS3	GLI3	OFD1	FAT4	MSH3	CDK4	RET	TSC2	SEC23B	TCTN3	NEK9	FGF3	SMAD4	SOX2	MAN2C1	FH	SDHC	NRAS	IFNG	SLC25A11	KRT1	CDKN1B	KRT10	KIF1B	AKT1	MAX	CDC73	SMO	DIS3L2	TIAM1	ACTB	TOPORS	DYNC2LI1	SIX6	KANSL1	VPS16	TMEM216	NF2	PTCH1	FGFR3	CCND1	KIF7	PTH1R	SUFU	MSH6	STK11	FAM149B1	TFAP2A	IDH2	SDHA	GREM1	ACVR1	DLST	SDHAF2	HRAS	PDE6D
HP_HAMARTOMA_OF_THE_EYE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAMARTOMA_OF_THE_EYE	AKT1	NF1	SDHB	PIK3CA	FH	SDHC	PTEN	SDHD	IFNG	SLC25A11	CCND1	VHL	MSH6	KRT1	USF3	NF2	TMEM127	KRT10	KIF1B	MAX	TSC2	MDH2	KLLN	TSC1	SDHA	RET	DLST	SDHAF2	SEC23B
HP_DYSPLASIA_OF_THE_FEMORAL_HEAD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSPLASIA_OF_THE_FEMORAL_HEAD	B3GALT6	IHH	TRAPPC2	COL2A1	HSPA9	MTX2
HP_ABSENT_EPIPHYSES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_EPIPHYSES	MATN3	EXTL3	PIK3C2A	PLOD3	DYM	LONP1	GLB1	TRPV4	HS2ST1	CANT1	COMP	KIF22	TRAPPC2	COL11A2	COL2A1	CDC6	IFT140	ADAMTSL2	SMARCAL1	RNU4ATAC	CHST3
HP_CONE_SHAPED_EPIPHYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONE_SHAPED_EPIPHYSIS	DYNC2H1	NEK1	IFT140	WDR19	CDC42BPB	TRIP11	DYNC2LI1	FGFR3	MIR140	GPX4	MAP3K7	COL2A1	IFT52	ATR	COG4	PRKAR1A	TRPV4	FBN1	OFD1	NPHP4	NUP85	TBC1D2B	GDF5	FLNA	NPHP3	NSMCE2	EIF2AK3	EXT1	TTC21B	KIF15	TRPS1	PCNT	POC1A	PDE4D	DYM	IHH	SHOX	BMPR1B	PDE3A	MRPS28	MIA3	DYNC2I2	IFT172	ZMIZ1	TRAIP	DYNC2I1	BGN	FGF9	ATRIP	AIFM1	NOG	PLK4	KNSTRN	PIK3CD	SDCCAG8	KIAA0586	NPR2	SMAD4	RUNX2	RBBP8	CSPP1	SRCAP	CEP290	COMP	INVS	TRAF3IP1	CEP164	IFT80	EVC2	RMRP	CEP120	NPHP1	CENPE	EVC	IQCB1	RSPRY1	CENPJ	CEP152
HP_ENLARGED_EPIPHYSES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_EPIPHYSES	CLCN5	CCN6	CKAP2L	PIK3R1	COL2A1	NKX3-2	CYP27B1	TRAPPC2	GDF5	COL11A2	VDR	SLC34A3	COL10A1	CYP2R1
HP_IRREGULAR_EPIPHYSES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRREGULAR_EPIPHYSES	COMP	TRPV4	RNU4ATAC	COL9A3	SIK3	MATN3	COL2A1	SLC26A2	COL11A1	PEX5	TRIP11	UFSP2	COL9A1	ACAN	RPL13	NANS	COL9A2	DYM	KIF22	TRAPPC2	CDC6	NMNAT1	ADAMTSL2	CHST3
HP_IVORY_EPIPHYSES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IVORY_EPIPHYSES	TRPS1	ATR	SRCAP	ERCC6	EIF2AK3	PCNT	ERCC8	PCYT1A	TONSL
HP_PSEUDOEPIPHYSES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSEUDOEPIPHYSES	HOXA13	BMPR1B	MAP3K7	NPR3	LETM1	RAB23	CPLX1	GDF5	NKX3-2	FGFRL1	RPS6KA3	KCNH1	CTBP1	NSD2	SALL1	PCNT	PTH1R
HP_SMALL_EPIPHYSES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_EPIPHYSES	COMP	DLK1	RNU4ATAC	COL9A3	SLC10A7	MATN3	RSPRY1	COL2A1	TONSL	COL11A1	TRIP11	AIFM1	EIF2AK3	CHST3	RMRP	COL9A1	NANS	MMP13	MEG3	COL9A2	RTL1	KIF22	TMEM67
HP_TYPE_2_MUSCLE_FIBER_PREDOMINANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPE_2_MUSCLE_FIBER_PREDOMINANCE	DYNC1H1	POLRMT	CLCN6	ALG14	COQ5	KY
HP_SKIN_TAGS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_TAGS	BCOR	PIK3CA	FGFR1	SVBP	PTCH2	LETM1	SEMA3E	ODC1	CPLX1	KIF7	HNRNPU	SIX5	GPC4	KDM6A	SNRPN	KMT2D	EDNRA	SIX1	RIPK4	NAA10	CTNND2	GNAI3	CHD7	PRMT7	POLR1C	H4C5	POLR1D	TCOF1	SALL4	FGFR2	CTBP1	NSD2	SALL1	FGF3	UBE3B	ARID1B	TASP1	EFTUD2	WASHC5	FGFRL1	PUF60	NSMCE2	ALX3	ALX1	H4C3	FN1	H4C9	MED12	SF3B2	POLR1B	SF3B4	IRX5	ANKRD11	CCDC22	SEMA5A	VPS13B	EYA1	CHN1	FLNB	EXT2	EDN1	B3GLCT	FLCN	STAG2	MSL3	MED13L	TXNL4A	PLCB4	GPC3	PTCH1	SMARCA2	WLS	COL2A1	BRF1	SUFU	LRP5	PIGS	MAFB	ANTXR1	DACT1	PTEN	WBP11	AKT1	TMEM260
HP_PALMAR_PITS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALMAR_PITS	PTCH1	PTCH2	POFUT1	PSENEN	SUFU	ATP2A2	POGLUT1	CIB1	KRT5
HP_ANGIOFIBROMAS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANGIOFIBROMAS	MLH1	MEN1	NRAS	MSH2	MSH6	TSC1	PIK3CA	SDHD	IFNG	SDHB	USF3	PTEN	PLCD1	TSC2	KLLN	HRAS	CDKN2C	KRT17	CDKN1B	CDKN2B	AKT1	SDHC	CDKN1A	KRAS	SEC23B
HP_FIBROADENOMA_OF_THE_BREAST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FIBROADENOMA_OF_THE_BREAST	PRKAR1A	CASP10	PDE11A	APC	PRLR	PDE8B	RASGRP1	PRKACA	PRKCD	FAS	PTEN	FASLG	AKT1
HP_MALAR_PROMINENCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALAR_PROMINENCE	HBB	CTDP1	LAS1L	NSMCE2	NBN	HDAC8	XRCC4
HP_CUTANEOUS_SYNDACTYLY_OF_TOES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTANEOUS_SYNDACTYLY_OF_TOES	CREBBP	SVBP	GJA1	GABRA3	RPL10	SLC39A8	MYH8	CAMTA1	EP300	SCARF2	SMARCAD1	DHCR7	MAP3K20	BCOR	NECTIN1	DEAF1	FGF16	PRKD1	NOG	MCTP2	FGF9	MECP2	TRRAP	DYRK1A	CACNA1C	NECTIN4	TP63
HP_NEOPLASM_OF_THE_SKELETAL_SYSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_SKELETAL_SYSTEM	PMS1	TP53	TSC1	ACP5	EXT2	COL11A2	APC	RNASEH2A	PTPN11	POLR1C	IPO8	RPS26	RNASEH2C	RPL26	IDH1	ACAN	RPS19	RNU7-1	POLR1D	TCOF1	KRAS	RECQL4	RPS24	GATA1	EXT1	COL2A1	ATP7A	RPS27	PHF21A	MSH2	TAF15	TSR2	GLI3	RB1	ADA2	FGFR1	PTEN	IFNG	FAN1	RPS28	AAGAB	MDM2	MTAP	MSH6	POLR1B	RAD21	RPL15	EPCAM	LSM11	RPS20	CDKN2A	RPL11	SHOX	RPS15A	RNASEH2B	RPS29	AKT1	TGFBR2	RPL27	RPL35A	CHRNG	TRPS1	PMS2	NR4A3	MLH1	CHEK2	WRN	SQSTM1	BMPR1A	RPS17	IFIH1	SOX6	COL14A1	SEMA4A	ALX4	MLH3	FGFR3	SAMHD1	ADAR	RPS10	PIK3CA	PORCN	MSX2	RPL35	PTH1R	PDE11A	PRKAR1A	ANAPC1	TREX1	RPS7	RPL18	IDH2	LMNA	RPL31	HEATR3	RPL5	TSC2
HP_APLASTIC_HYPOPLASTIC_TOENAIL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASTIC_HYPOPLASTIC_TOENAIL	EIF5A	EOGT	DNAJC30	JUP	NSUN2	ODC1	VPS37D	INPPL1	KCNH1	SHOC2	EZH2	BCR	COL7A1	NSD1	COL11A1	GPC4	NOTCH1	WNT7A	RIPK4	WRAP53	SMARCB1	TELO2	TERT	SMARCE1	METTL27	SOX11	DLL4	EVC	SOX4	EVC2	DPH1	NOG	TCTN3	DKC1	SMARCA4	NHP2	RBPJ	ARHGAP31	KCNN3	TBX4	ZIC3	LIG4	GTF2IRD1	CPT2	DOCK6	NOP10	PARN	LRP4	GLI1	KDM1A	SMARCA2	BUD23	KRT5	EED	TINF2	ARID1B	RTEL1	SHOX	TYMS	BAZ1B	DSP	AFF4	ELN	PPP1CB	ARID2	BCL7B	MLXIPL	NCF1	HOXA13	SUZ12	TBX3	CRKL	FGFR1	EIF4H	SHANK3	CKAP2L	TBC1D24	GDF5	GTF2IRD2	LIMK1	PPP2R5D	SCO2	PIGF	FKBP6	SET	KRT14	DPF2	RFC2	USB1	CTC1	NECTIN4	TBL2	TMEM270	HRAS	ARID1A	WLS	GTF2I	NPM1	DYNC2LI1	MSX1	ATP6V1B2	SMARCC2	CLIP2	APC	SLC35D1	ZMYM2	MAPK1	PORCN	SMARCD1	STX1A	PRKACA	TERC	FTO	PRKACB
HP_ANTERIOR_PITUITARY_DYSGENESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_PITUITARY_DYSGENESIS	RBM28	MAGEL2	SNRPN	POU1F1	OTX2	CDC42BPB	HESX1	SIX6	OCA2	LHX4	VANGL2	SOX3	TTC26	LHX3	HID1	GLI2	NDN	GATA6	ARNT2	PROP1	SOX2	FGFR1	MADD	TBX3	NONO	MTHFR	GHRHR	FOXA2	DMXL2	PROKR2	ZSWIM6	SIX3
HP_ANTERIOR_PITUITARY_AGENESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_PITUITARY_AGENESIS	GLI2	PROP1	POU1F1	LHX4	HESX1	SIX3	FOXA2	OTX2	GATA6
HP_ABNORMALITY_OF_THE_EPIPHYSES_OF_THE_FEET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_EPIPHYSES_OF_THE_FEET	COL9A3	TBC1D2B	EIF2AK3	COL9A2	MATN3	COL9A1	ARSL
HP_SCHIZENCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCHIZENCEPHALY	SHH	EPG5	WDR62	COL4A2	WNT1	EMX2	TUBB2B	SIX3	COL4A1
HP_ELEVATED_ALKALINE_PHOSPHATASE_OF_BONE_ORIGIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_ALKALINE_PHOSPHATASE_OF_BONE_ORIGIN	CTNS	ENPP1	NPR3	ABCC6	DMP1	CYP27B1	SLC34A3	VCP	SLC34A1	ESR1	CYP2R1	CCDC115
HP_ABNORMALITY_OF_THE_NASAL_CAVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_NASAL_CAVITY	SUFU	GLMN	GLI2	NODAL	TGIF1	DISP1	SHH	DLL1	TDGF1	FGF8	CDON	FGFR1	GAS1	ZIC2	FOXH1	SIX3	PTCH1
HP_CERVICAL_SPINE_INSTABILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVICAL_SPINE_INSTABILITY	COMP	B3GALT6	TGFB3	SOX9	BGN	POP1	COL2A1	SMAD3	TGFBR1	ARSL
HP_ABNORMAL_ELASTICITY_OF_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ELASTICITY_OF_SKIN	MGP	MAN1B1	COL1A1	CYP4F22	IARS1	VPS37D	CUL4B	PAH	FGF20	PRDM5	ZNRF3	COL3A1	B3GALT6	PRKAR1A	RIT1	COL5A2	C1R	FBN1	LTBP4	NSD1	TNXB	EXOC6B	TERT	IPO8	FBLN5	ALDH18A1	MAP3K7	MEG3	PITX2	KRAS	LTBP1	FLNA	FGFR2	TGFBR1	PLOD1	ATP6AP2	METTL27	IFT140	ENPP1	ELN	XYLT1	MEGF8	SMAD2	ATP6V1A	TP53	OSMR	INPPL1	ATP6V0A2	POLD1	TWIST2	COL1A2	SLC39A13	GTF2IRD1	EDA	SLC6A8	TGFBR2	EXT1	ALOX12B	B4GALT7	SHOC2	BCL11B	SKI	PIK3R1	RTEL1	XYLT2	PEX1	TINF2	LZTR1	CD96	MAP2K2	DSE	PIGQ	MTX2	SPARC	BCL7B	SLC2A10	MLXIPL	SMAD3	KMT2C	RPS6KA3	TRPS1	NCF1	FKBP14	COL12A1	SPINT2	TRIP4	FGFR3	USP8	SUZ12	CSTA	GGCX	ABCC6	YY1	EFEMP2	RIN2	TGFB2	SRD5A3	FKBP6	KIAA0586	DLK1	MRPS16	HRAS	RFC2	ABL1	DKC1	IFT43	SULT2B1	TBL2	GATA1	RTL1	CSPP1	NEPRO	ADAMTS2	ZNF469	RAF1	WRN	GTF2I	TGM1	TUBB	CFTR	ATP7A	CDH23	WDR81	CLIP2	AEBP1	FIG4	USP48	CEP55	SPEN	GSN	SDR9C7	LIPN	ADAMTSL2	LMNA	STX1A	GBA1	H1-4	MRAS	C1S	TGM5	MAN2B1	PAX2	DNAJC30	AARS1	EZH2	B4GALT1	ATP6V1E1	NDUFB11	PTEN	PTDSS1	GNB2	GPX4	NBAS	PDE8B	H4C5	WDR19	BRAF	MRPS22	ATP6V1B2	KCNH1	ALG12	FOXC1	PDE11A	SMARCA2	AKT3	PYCR1	ABCA12	CHST3	INSR	FGD1	NR3C1	SLC26A2	MTAP	ZMPSTE24	BUD23	EED	ANTXR1	WDR37	COL5A1	CDK13	ALOXE3	KIF22	SLC25A24	CTNNB1	VAC14	NIPAL4	PDGFRB	ASXL1	BAZ1B	PARN	ATP6AP1	SH3PXD2B	SON	TBL1XR1	CHST14	ATRX	PRKACA	MICU1	GORAB	EIF4H	NAA10	COG7	GTF2IRD2	LIMK1	GNAS	MAPRE2	NDUFB10	CDKN2A	SMARCD2	NPR2	DLG4	HPGD	WDR35	TBX15	SLC7A7	TMEM270	COPB1	WLS	ARMC5	OTUD5	B3GAT3	PUF60	KCNN3	MAP2K1	ACD	EHMT1	ALG8	SMARCAD1	PTPN11	AIP	ASPRV1
HP_DERMAL_TRANSLUCENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DERMAL_TRANSLUCENCY	TGFBR2	POLR3A	SOX18	B3GALT6	ALDH18A1	ELN	IARS1	COL1A1	COL5A1	COL3A1	CHD1	TWIST2	FOCAD	PYCR1	SLC25A24	COL1A2	SMAD3	TGFBR1	FBLN5	ZMPSTE24	LMNA	PPP1CB
HP_FLAT_NASAL_ALAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLAT_NASAL_ALAE	ERCC2	ERCC5	ERCC3	ERCC4	XPC	PTCH1	DDB2	XPA
HP_ABNORMAL_MENINGEAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MENINGEAL_MORPHOLOGY	ADAT3	NEK1	MBD4	SMARCE1	ZIC2	WNT7A	STIL	PI4KA	HES7	NDE1	SDHD	PLCH1	FOXE3	SACS	FUZ	BAP1	PKD2	TBXT	TGIF1	FBN1	GLI3	PAX3	NODAL	EIF3F	FRAS1	TGFB2	PTCH1	CDKN1B	TDGF1	SIX3	TBX1	ACTA2	SEC23B	COL18A1	GP1BB	MAT2A	VANGL1	ZIC3	SMO	PUS3	TMEM231	RREB1	DLL1	FOXH1	XPNPEP3	GAS1	H19	PDGFB	FGF8	CDKN2B	FREM2	SHH	NTHL1	NRCAM	SMAD3	CREBBP	NOTCH3	LOX	CEP290	DHCR7	TGFBR1	NARS1	POMT2	FKTN	AKT1	PPP2R5D	SIN3A	SUFU	ALX4	KIAA0586	ARPC4	NF2	KRIT1	HEY2	CSPP1	B3GALNT2	FGFR2	PTEN	SMAD2	DISP1	PIK3CA	ATN1	GPSM2	WRN	RASA1	WAC	CDON	SLC30A9	GLI2	SMARCB1	PKD1	FGFR1	LARGE1	CDKN2C	MESP2	TGFBR2	SC5D	NRAS	PTCH2	SH2B1	KRAS	EBP	DLL3	ALKBH8	SDHB	MN1	MYLK	USF3	TERT	RTTN	HIRA	CCM2	STAG2	PDCD10	OFD1	ABCC6	GANAB	BMPER	DACT1	INPP5E	ARVCF	TMEM216	MFAP5	FOXC2	CCL2	SMAD4	ZSWIM6	COMT	ALG5	GJA1	CPLANE1	RAB3GAP2	TGFB3	FLNA	ATP6AP1	DNAJB11	GMPPB	IGF2	STT3A	SCN2A	SEC24C	SON	GRIP1	NF1	POMT1	NSD1	TRAF7	FKRP	KANSL1	KCNC2	SHANK3	SCN1A	SMC1A	TTR	ZNFX1	CHEK2	CDKN1A	LFNG	MYH11	DDR2	WLS	PRKG1	MEN1	MSX2	ARMC5	BICC1	COL11A1	JMJD1C	RIPPLY2	OTUD5	KCNQ1OT1	PUF60	RNU4ATAC	IFT140	VANGL2	KLLN	GNAS	PORCN	SNRPB	LMNA	ALG9	POMGNT1	ELN	HRAS	DNAJC19	UFD1	SDHC	ARID2	EP300
HP_ABNORMAL_DURA_MATER_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DURA_MATER_MORPHOLOGY	DISP1	PTCH2	SHH	FOXH1	FGFR1	ZIC2	FGF8	TDGF1	STIL	NDE1	PLCH1	DLL1	GAS1	PTCH1	TGIF1	NODAL	GLI2	CDON	STAG2	ABCC6	SMC1A	SIX3	DDR2	ATN1	COL11A1	SUFU
HP_EPIPHYSEAL_STIPPLING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIPHYSEAL_STIPPLING	VPS35L	PEX13	ARSL	PEX6	DDR2	DLK1	PEX26	PEX3	AGPS	FLNB	GGCX	GDF5	PEX12	EBP	PEX19	PEX14	NSDHL	PRKAR1A	PEX7	LBR	PEX5	PEX10	DHCR7	PEX16	PDE4D	PEX11B	BMPR1B	MGP	PEX1	SNRPB	MEG3	NEU1	PEX2	RTL1	THRB	GUSB
HP_ABNORMAL_EPIPHYSEAL_OSSIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EPIPHYSEAL_OSSIFICATION	VPS35L	SOX9	FLNB	IARS2	CYP27B1	POU1F1	EBP	ARSL	TSHB	B3GALT6	LBR	LHX4	PEX11B	CLCN5	MIR140	GPX4	MEG3	TG	TRPV4	PEX12	PRKAR1A	TSHR	DLK1	PEX26	COL9A3	AGPS	GDF5	TONSL	PEX3	PEX5	PEX10	PEX16	PEX1	KIF22	COMP	MATN3	SLC5A5	DYM	PEX6	PEX2	CYP19A1	PTH1R	TPO	COL2A1	DDRGK1	PEX19	HESX1	PEX14	ESR1	IYD	PEX7	DHCR7	PDE4D	BMPR1B	MGP	RTL1	KIAA0586	KIF7	DUOXA2	THRB	PEX13	CSPP1	DDR2	FGFR2	GGCX	LHX3	PISD	KCNH1	NSDHL	TRAPPC2	SLC34A3	RNU4ATAC	DUOX2	CYP2R1	PROP1	SNRPB	NEU1	VDR	GUSB
HP_PATCHY_CHANGES_OF_BONE_MINERAL_DENSITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATCHY_CHANGES_OF_BONE_MINERAL_DENSITY	MTAP	SQSTM1	LBR	TBCE	GJA1
HP_ABNORMAL_HAND_BONE_OSSIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HAND_BONE_OSSIFICATION	TRPV4	EXTL3	DDR2	FLNB	FLNA	PTCH2	SLC10A7	SETD2	PTH1R	ABCC6	GDF5	COL2A1	BGN	MBTPS1	ARSL	TRIP11	B3GALT6	SUFU	GPC4	TONSL	CHST3	RMRP	HOXA13	MATN3	BMPR1B	EXOC6B	XYLT1	EBP	LEMD3	PIGV	CANT1	LONP1	IHH	SLC34A2	ENPP1	GPC3	SLC35D1	UFSP2	PTCH1
HP_ABNORMALITY_OF_THE_DIENCEPHALON	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_DIENCEPHALON	SMARCE1	TUBB2B	CCDC141	FGF17	ZIC2	VPS37D	STIL	NDE1	PLCH1	CPLANE1	FGF8	TGIF1	KIAA0753	SPG11	NODAL	GPKOW	SEMA3A	PTCH1	DCC	METTL27	TDGF1	SIX3	GSX2	TCTN3	MAGEL2	POLG	NDUFS2	GLI3	NDUFB8	SMO	GTF2IRD1	DLL1	MFF	FOXH1	FTL	TREM2	EXOC7	GAS1	PDGFB	LHX3	CP	TIAM1	SHH	BCL7B	TOPORS	MLXIPL	OFD1	NCF1	NDP	DUSP6	GFAP	SCP2	BAP1	CTNNB1	TUBB3	AKT1	BRAF	VPS16	GMPPB	FKBP6	RFC2	POMGNT1	TBL2	KIF7	NF2	ANOS1	DISP1	GTF2I	NDNF	TACR3	SPRY4	CDON	FLRT3	SCO2	GLI2	PIK3C2A	CLIP2	CDH2	POMT1	STX1A	GTPBP3	PDE6D	DNAJC30	PROK2	FGFR1	CHD7	PIK3CA	TERT	COASY	SMARCB1	FKRP	STAG2	RANBP2	SETD5	COX10	HESX1	EXOC2	MYORG	SOX2	MAN2C1	HS6ST1	SURF1	NDUFAF3	BUD23	TWNK	TUBA1A	BAZ1B	MTRFR	TRH	ELN	JAM2	POMK	SIX6	TRAF7	SUFU	FEZF1	EIF4H	IL17RD	GTF2IRD2	LIMK1	SMC1A	TMEM216	LEPR	TMEM270	PTCD3	SOX10	SLC2A1	CLN8	POMT2	FAM149B1	PROKR2	SIM1	HEXB	WDR11
HP_ABNORMALITY_OF_THALAMUS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THALAMUS_MORPHOLOGY	SMARCE1	TUBB2B	JAM2	POMK	NDE1	TRAF7	SUFU	PTCH1	GFAP	SCP2	PIK3CA	BAP1	TERT	COASY	TUBB3	SMARCB1	AKT1	FKRP	GMPPB	RANBP2	SETD5	POMGNT1	GSX2	PTCD3	COX10	POLG	EXOC2	NF2	MYORG	NDUFS2	SLC2A1	NDUFB8	SMO	SURF1	CLN8	POMT2	SCO2	NDUFAF3	PIK3C2A	MFF	FTL	TWNK	TREM2	EXOC7	PDGFB	TUBA1A	POMT1	HEXB	CP	GTPBP3	MTRFR	DCC
HP_BILATERAL_COXA_VALGA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_COXA_VALGA	ERCC6	COL9A3	TGFB3	CCDC47	LMX1B	COG8	STXBP1	COL9A2	PDE4D	COL9A1	MAN2B1
HP_ABNORMAL_ZYGOMATIC_BONE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ZYGOMATIC_BONE_MORPHOLOGY	PDZD8	HBA1	MAN1B1	COL1A1	SEMA3E	BLM	VPS37D	LRP4	COL2A1	CUL7	FGFR2	NSDHL	ZBTB20	BGN	B3GALT6	LTBP4	ACAN	COL11A1	POLR1C	CNOT1	RNU4ATAC	CANT1	KRAS	RNU12	EHMT1	TGFBR1	METTL27	ELN	TBX1	ATP6V1A	SLC26A2	FBN1	SETD2	RSPRY1	GP1BB	IPO8	TAT	TGDS	COL11A2	TBL1XR1	GTF2IRD1	SLC6A8	TGFBR2	YY1	COL9A1	RREB1	EBP	FGFR3	PIK3R1	PEX1	LARP7	RAI1	DNMT3B	FAM50A	GRIA3	MAP2K2	KCNJ2	TWIST1	FLNA	PAX3	TWIST2	POLR3A	LRPPRC	CTDP1	BCL7B	NPR3	SLC2A10	MLXIPL	SP7	SMAD3	DHODH	DVL1	NOTCH3	VPS13B	TP63	NCF1	NDP	LOXL3	FAM20C	MYH3	PEX7	AIFM1	CRKL	FGFR1	PRKAR1A	NECTIN1	TCOF1	MGP	BBS7	PIGV	TBX22	PTH1R	FKBP6	EFTUD2	SMAD4	ASXL3	RFC2	RUNX2	LRP2	PYCR2	SLC35D1	HSPG2	TBL2	GATA1	UBE2A	GLI2	COL9A3	PQBP1	PEX12	RPS26	FLNB	GTF2I	CHD7	POLR1D	KCNH1	KIF1A	MED12	PDE4D	TFE3	POU1F1	CCBE1	CLIP2	RAB3GAP2	HDAC8	TFAP2A	MAPK1	AGL	GPC6	ZNHIT3	TMEM165	STX1A	SEC23A	SATB2	ROR2	DNAJC30	ESCO2	PCGF2	SHH	AMMECR1	LMNA	INPPL1	SETBP1	ATRX	DLG3	MAF	ERF	ASPH	BCR	ATP6V1E1	POMGNT1	LAS1L	NF1	HIRA	NBAS	NBN	RAB23	HDAC4	GSC	TFAP2B	BRAF	POGZ	POLE	OFD1	RBM8A	FOXC1	ARVCF	SF3B4	WNT5A	RDH11	SCARF2	CDH11	XRCC4	PYCR1	SF3B2	HERC1	DCHS1	POLR1B	BUD23	PRMT7	SOST	COL5A1	MECP2	KIF22	POLR1A	COMT	POR	COL9A2	BAZ1B	SIX3	HBB	RAB3GAP1	SEC24C	GJA5	NOTCH2	LIFR	OBSL1	GORAB	MAN2B1	TMEM237	NTRK1	BMP2	EIF4H	SHANK3	PIGT	STAG2	PIGA	PLOD3	GTF2IRD2	LIMK1	KIF7	ATP6V0A2	SERPINH1	COG4	ADAMTSL4	HBA2	RHOA	FAT4	GJA8	FZD2	RLIM	PIGU	TMEM270	DDR2	NSMCE2	MBD5	ARID1B	JMJD1C	NONO	FOXP1	KCNE5	TONSL	MAP2K1	HNRNPH1	PSMC3	SNRPB	ACSL4	APC	PEPD	TBX4	NGF	CA2	UFD1	BUB1B	CNOT3
HP_HYPOPLASIA_OF_THE_ZYGOMATIC_BONE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_ZYGOMATIC_BONE	OFD1	TMEM270	DNAJC30	BCL7B	MLXIPL	TWIST2	SEMA3E	NECTIN1	VPS37D	VPS13B	NOTCH2	GTF2I	SF3B4	NCF1	POLR1D	GTF2IRD1	RUNX2	MAP2K1	SF3B2	EIF4H	POLR1C	CHD7	POLR1B	BUD23	NBAS	CLIP2	GTF2IRD2	PEPD	CNOT1	LIMK1	KRAS	TCOF1	FGFR2	FKBP6	BRAF	MAP2K2	METTL27	COL11A1	RFC2	STX1A	BAZ1B	ELN	TBL2
HP_ABNORMALITY_OF_THE_CURVATURE_OF_THE_VERTEBRAL_COLUMN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CURVATURE_OF_THE_VERTEBRAL_COLUMN	ARSB	COL2A1	VPS37D	LRP4	NEMF	TMCO1	BMP1	ADCY5	SPATA5	HS2ST1	PLCH1	FOXE3	MFN2	GNE	RNASEH2C	KCNJ6	SMARCB1	NEFL	SPG11	TPM2	PTPN11	ALG1	RYR1	PRKAR1A	SGCG	FZD2	DPYSL5	SIX3	TRPV4	SEC23B	SLC35A3	ROBO3	VMA21	SEC24D	SH3TC2	GP1BB	GNAS	MAT2A	ASAH1	MORC2	DYNC2H1	SORD	KCNN3	KLC2	MECP2	ANKRD11	TGFBR2	RPS6KA3	IARS2	COL6A1	CCDC8	DLL1	LARP7	HNRNPR	NFIX	UBA1	H19	ARID1B	ZNF407	COQ2	NIN	COL6A2	RNASEH2B	RPGRIP1L	JAG2	NRCAM	POLR3A	STAG1	SP7	BRCA2	POMT1	H3-3B	LMNB1	CFAP410	RUSC2	FGFR3	WNK1	UPB1	HGD	PMP22	PRG4	ERCC8	PGM3	TCF20	MYL2	FKBP6	FLII	MGME1	AIMP1	NCAPG2	ATAD3A	NMNAT1	HSPG2	POMGNT1	IGBP1	MKS1	CHKA	COG1	BAP1	PIK3CA	ATN1	SMARCAL1	CHD7	FGF8	SOX5	CYP7B1	ACP5	RAI1	ATP6V1A	NEK9	IRF6	SMC1A	RECQL4	GLI2	CLP1	AEBP1	EBP	BICD2	TRRAP	ARF1	P4HB	EXT2	FBN1	PPP1CB	PCGF2	FLNB	FGFR1	IKBKG	CAMTA1	NGLY1	MYH7	ABCC9	CUL4B	ERMARD	EZH2	KDM6A	GABRD	TTPA	ZIC2	TOR1A	SHOX	TMEM63C	FUCA1	ALG11	KMT2D	LMNA	FOXG1	INPP5K	MMP14	SYT1	SAMD9	TCF4	FARSB	ITGA7	ACTB	SLC25A1	ZNF423	ALX3	TTC5	B3GALT6	GPC3	TTC21B	SGMS2	CCDC32	DAG1	SPEG	GJC2	NR4A2	SELENON	TBX1	MTMR2	HSPB8	POLR3GL	BIN1	DCC	MBTPS2	CCDC22	DVL3	DOK7	LZTR1	VCP	NOTCH2	MOGS	DVL1	PIEZO2	MAN2B1	TMEM237	FLI1	MYH2	EIF4H	PTEN	MTRR	TTI2	TCTN2	DYRK1A	NXN	PIGO	DLL3	ALS2	SOX11	UNC80	BRAF	COQ4	KCNH1	SRCAP	COMP	MAGEL2	MMP13	TRAPPC11	TRIO	MCM3AP	MED25	SYNE1	FKTN	DISP1	IDH2	P4HTM	PNKP	PPM1D	CBS	SH2B1	KATNIP	CASK	HLA-B	STIL	TMEM43	TRIP11	NF1	MKRN3	MEGF10	SUFU	CC2D2A	MYMK	MAP3K7	MEG3	EGR2	EMD	GNAQ	OCRL	CTBP1	RRAS2	METTL27	INPP5E	AGRN	SATB1	ARMC9	INPPL1	TONSL	COL1A2	CCDC47	SHMT2	TMEM231	NARS1	GLIS3	CPLX1	FOXC2	GDF6	SLC5A7	CLCN4	DDX3X	PMM2	CNP	SNX14	GRIA3	OTUD6B	LHX3	VPS37A	TBC1D20	CHMP1A	GMPPB	FLNA	MPZ	SMAD3	TRAIP	NPR2	NCF1	MYH3	SUZ12	FBN2	NUP88	SBF1	PTCH2	RAB3GAP2	PPP1R15B	KDELR2	RERE	FKBP10	FUS	RAC1	KRIT1	TRPS1	HACE1	SMARCC2	KRAS	NECTIN1	PISD	MED12	PIK3R2	IFIH1	FANCI	ERCC6	MLXIPL	ERCC4	TUBGCP6	PTCH1	HERC2	POMK	GDF3	MAPK1	PQBP1	ALG6	CENPE	GBA1	SKI	ROR2	HNRNPK	ERCC3	ATRX	NEB	TBX6	ALG2	SNRPN	RNASEH2A	VPS53	COLQ	SLC18A3	HIRA	SALL4	TOGARAM1	SETD5	PPP2R1A	CHRNB1	FKRP	NUP85	MAP3K20	CEP152	PNPT1	ARVCF	AP1S2	FANCF	RPL13	FGFR2	CARS1	HNRNPA1	RRM2B	NUP107	LRP5	CRLF1	GAN	CTC1	KLHL41	CEP104	DPAGT1	TYMS	TNNI2	BANF1	COL10A1	OGDHL	MAP2K1	GNPTAB	FBLN5	CHD3	SH3PXD2B	SEMA5A	RAB3GAP1	PPP1R12A	GJB1	RNF113A	CLCF1	TDGF1	LAMB2	LIFR	TPM3	FANCM	NSD1	DMPK	TBCE	OCA2	UBE4B	DACT1	MESD	PIGW	SCN4A	HYCC1	HPDL	NRAS	ANKRD17	HTRA1	NAA10	DPF2	MESP2	SAMHD1	PPP2R5D	PIGU	USP9X	DDX59	EMC1	RNASEH1	GALNS	NOTCH2NLC	ATP6V0A2	B3GAT3	FANCE	GAD1	CHST14	JAG1	ELP1	GUSB	IGHMBP2	EXTL3	CTSK	FANCB	HSPD1	HTT	ARSL	HES7	DEAF1	ACTA1	CASZ1	MEGF8	ADGRG6	IPO8	IDH1	WIPI2	CANT1	NKX6-2	PLOD1	DDHD1	GLB1	PLEKHG5	LONP1	FAM111B	CBY1	ZC4H2	ARFGEF2	TGDS	TBL1XR1	MMP2	DMD	RREB1	GDF5	PARN	TAF1	RIT1	POMT2	DYM	ADAMTS10	MED12L	CHRND	BMPR1B	CEP290	KBTBD13	FOXH1	ASXL2	VAMP1	CHRNG	LARGE1	NDP	AP1G1	GFAP	NALCN	HYLS1	TRAPPC12	PRDM16	TGFB2	KNSTRN	STAT3	COLEC11	RAD51C	CEP41	RAF1	NPM1	FARSA	PRKG2	FANCA	ATR	MYPN	FHL1	SLC2A10	SCARB2	DNA2	SLC37A4	CTDP1	PLEC	PLP1	FOXRED1	NSDHL	ALDH18A1	COL6A3	SOX9	CDKL5	CIC	SPTBN1	GDAP1	SLC16A2	KMT2E	NACC1	DES	SLC6A1	PWRN1	SPTBN4	PRUNE1	NDUFS3	CDC45	ACAN	WRAP53	WDR45B	ABCC6	PWAR1	ATP7A	UPF3B	SPRED2	MEOX1	CNOT2	CSGALNACT1	MBTPS1	DNMT3A	CHAT	MARS2	SACS	P3H1	FXN	ERLIN2	TCTN3	PIGT	CDK13	TK2	MMP23B	TCTN1	POR	ELN	ERCC1	SVIL	ATL1	AKT1	POLA1	FUZ	IGF2	PSAT1	EP300	RAB5IF	GGPS1	APTX	PHF8	ALDH3A2	CHRNE	KIF5A	MFAP5	RNF125	SIL1	RBBP8	COX8A	LBR	LFNG	TLK2	SMARCA2	BRF1	AUTS2	B4GALNT1	KCNA1	PUF60	SIGMAR1	GPR101	SYNJ1	PRPS1	RSPRY1	SPART	AFF3	MYMX	POP1	SCN9A	TTN	CBL	RNU12	SPEN	AHI1	RAB18	SLC26A2	HPGD	BAG3	NHP2	PHACTR1	TBX5	PODXL	H4C9	MINPP1	NOP10	NDUFAF5	DKK1	NODAL	EXOC6B	TINF2	IHH	COL12A1	RTEL1	DNM2	ECEL1	GBA2	CDC42	MEIS2	SHH	NOTCH3	VPS13B	BGN	GABBR2	FKBP14	GTPBP2	CHRNA1	UBTF	LETM1	MPLKIP	TBCD	LUZP1	GRIN1	PIK3CD	ATG7	EED	ARPC4	ABL1	COG8	FLVCR1	UBE3A	ARL13B	COL3A1	TUBB3	PLK4	GTF2I	AHSG	TMEM251	PCYT1A	CCBE1	PLAA	PIK3C2A	PRKD1	ZMYM2	NKX3-2	MYO9A	CENPJ	NDUFAF1	CSNK2A1	SEC23A	ALMS1	ARX	CDC42BPB	NEDD4L	GFPT1	COL5A2	GNPAT	BCR	POLE	MYLK	GNPTG	RAB23	TELO2	COLEC10	CDON	RIN2	RAC3	B4GALT7	ITGB6	MADD	TARS1	ERLIN1	FLAD1	CHST3	FN1	PDGFRB	ASH1L	ATP6V1B2	LOX	PDE4D	USP7	SHROOM4	HNRNPH2	MTRFR	ARL6IP6	ARID2	TGFB3	PYCR2	COL1A1	SON	OBSL1	CYP27A1	TANC2	CADM3	TCF12	GTF2IRD2	NRXN1	LIMK1	DHX37	LMOD3	RTL1	RAPSN	DLG4	FAT4	TMEM270	KANSL1	MRPS34	WLS	CLIC2	AIMP2	SIN3A	DCX	GAS1	ALG14	TGFB1	ZMPSTE24	GORAB	TRAPPC2	B9D1	RBM8A	ACADS	WT1	PIGL	SEMA3E	DPP6	MTMR14	SDHD	ZBTB20	GLS	GPC4	C1R	TGIF1	ZIC1	PIGY	ASXL3	TERT	LMNB2	SETD2	NUS1	SPATA5L1	SMAD2	NSD2	SFRP4	C1S	ATP6V1E1	SLC25A46	SMCHD1	ZEB2	CFL2	PCNT	CSPP1	SLC25A21	KCNJ2	PALB2	DSE	TUBA1A	HK1	MUSK	CREBBP	SPARC	DDRGK1	WNT3A	PIEZO1	GLE1	TGFBR1	TMEM218	ERGIC1	FGF10	STAG2	SCUBE3	IL6ST	NDUFAF6	HNRNPA2B1	RUNX2	RNU7-1	HEY2	ARID1A	PRX	MAD2L2	GOSR2	SGSH	SLC30A9	PRDM13	FMR1	BRIP1	SUPT16H	MPL	ANO5	NDN	CAVIN1	SRY	STAC3	SPRED1	DPM2	GNA11	LAMA2	SNORD115-1	SLC52A3	DNAJC6	DHX30	SPRTN	CCM2	MYO1H	RNF13	GRB10	UFSP2	POLG	PYCR1	KIF22	ANTXR1	LSM11	COL5A1	MAPK8IP3	TRMT10A	DSTYK	BAZ1B	ZMIZ1	SEC24C	SLC52A2	YIF1B	SURF1	SCN1A	PUS1	GJA8	YWHAG	THSD4	KIF1A	HNRNPH1	SYT2	FLCN	PTDSS1	SLC1A2	WNT1	SIM1	AIP	ACVR1	RIPPLY2	AMER1	FANCC	HYAL1	MGAT2	FA2H	PRDM5	CENPT	QRICH1	KCNJ5	CSF1R	BCOR	COL27A1	RBM28	ATAD1	SLC12A6	SSR4	MBD5	XYLT1	SGCA	ACTA2	WNT5A	POLD1	FGFRL1	PEX5	COL11A2	WDR81	HMGB3	DNM1L	AHDC1	MRAS	XYLT2	GTF2H5	MAP2K2	EXOSC5	VANGL1	BCL7B	CRPPA	MATN3	SETX	ERCC2	PPP1R21	KY	IDS	TRIP4	PEX7	CRKL	MYBPC1	USB1	PPIB	MAPT	CPLANE1	PORCN	SOS1	PAX7	PIGG	ALG13	CRTAP	MSTO1	BICRA	HGSNAT	ARSK	TMEM67	XRCC2	TBC1D24	SLC10A7	NSUN2	TBX2	LTBP3	DUX4	ZNF469	ACTN2	VPS33A	DYSF	PRKCZ	SETBP1	SOX4	MYO18B	B9D2	SPG7	DLK1	WASHC5	L1CAM	ALG9	RPL10	DCHS1	BUD23	SNAP25	PGAP2	PYROXD1	SLC25A24	NPHP1	MIA3	GJA5	TMEM138	GCH1	HINT1	SCYL2	PDE11A	LEMD3	ATP6AP2	AIFM1	PPP2R3C	DLX5	SERPINH1	TBCK	ADAR	DDR2	IDUA	JMJD1C	CAPN1	FANCG	HRAS	LMX1B	SMS	NONO	SNRPB	PDZD8	FBXL4	CUL7	UBE2T	HNRNPU	TMTC3	FBXO28	CHRM3	ENPP1	DHCR7	TMEM38B	ATP2B1	LGI3	SMARCA4	TRAPPC4	LIG4	NKAP	RRAS	IFT172	NDRG1	CD96	YARS2	GFM2	FLRT1	ZDHHC9	KMT2C	PSMD12	FGD4	SPTLC1	ABCB7	LTBP4	FARS2	AGA	TUBB4A	HDAC4	POU4F1	PAX3	GTF2E2	LAGE3	APC2	DEGS1	JPH1	NEU1	PDPN	CHST11	TNFRSF11B	MTTP	IMPDH2	CLIP2	HACD1	FIG4	SRD5A3	FRG1	RFWD3	SMARCD1	TMEM165	H1-4	TMEM147	SDHB	NAA20	TMEM216	GNB2	BDNF	ADAMTS2	PDCD10	TUBGCP4	ALG12	BRCA1	PACS1	TNNT3	PIGA	CEP120	MAP1B	LTBP1	RETREG1	PI4KA	B3GLCT	COMT	BPTF	RMRP	PHF6	LSS	FUT8	ATRIP	NTNG1	CCN6	HUWE1	COL25A1	COL13A1	SMARCE1	PRKG1	CDK19	KIAA0586	TBX4	PET100	USP8	NDUFA12	SDHC	HSD17B4	TERC	ITCH	THPO	CAPN3	CTNND2	MYOD1	FGD1	SLCO2A1	SYNE2	PIGV	PIBF1	SLC39A13	EFNB1	GTF2IRD1	PAPSS2	GNS	TMEM94	GZF1	AK9	MYL11	ACTG1	RPL11	PIGQ	SBF2	MASP1	NDUFAF4	TWIST1	IQSEC2	SLC39A14	DNMT3B	GARS1	RFC2	FANCD2	RBCK1	DDX6	TBL2	NEPRO	CDH11	KCNAB2	TFE3	TREX1	TFAP2A	NELFA	RBM10	PRORP	MAF	STX1A	PAX2	VDR	DNAJC30	NPAP1	SMG9	USF3	H4C5	HMGA2	SNORD116-1	SLC35A2	LIPE	SOS2	CACNA1G	DKC1	ADAMTSL2	TPI1	EIF2AK3	SF3B2	HERC1	INTS1	SF3B4	RASA2	SMAD4	MYF5	ARL3	SATB2	MVK	SLX4	PLOD3	FANCL	PGAP3	MYH11	COPB1	RET	ESCO2	ABHD16A	KCNQ1OT1	PAX6	PIGS	APC	PLOD2	KLLN	RAD51	UFD1	CTNNB1	PAFAH1B1
HP_ABNORMAL_FOOT_BONE_OSSIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FOOT_BONE_OSSIFICATION	HOXA13	MATN3	FLNA	EBP	SLC35D1	PTH1R	CANT1	INPPL1	COL2A1	TRIP11	EIF2AK3
HP_ENURESIS_NOCTURNA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENURESIS_NOCTURNA	AVPR2	BNC2	FA2H	SLC5A2	PRKAR1B	RNF168	KY	AQP2
HP_ELEVATED_TISSUE_NON_SPECIFIC_ALKALINE_PHOSPHATASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_TISSUE_NON_SPECIFIC_ALKALINE_PHOSPHATASE	CTNS	ENPP1	NPR3	SEMA4D	GPR35	ABCC6	DMP1	CYP27B1	SLC34A3	VCP	MST1	SLC34A1	ESR1	CYP2R1	TCF4	CCDC115
HP_PULVERULENT_CATARACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULVERULENT_CATARACT	CRYBB1	VIM	BEST1	GJA8	MAF	CRYGC	LIM2	FTL	GJA5	CRYBB2	HSF4
HP_SUTURAL_CATARACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUTURAL_CATARACT	GJA8	ACADS	NHS	CRYBA1	SEC23A	GJA5	CRYBB2
HP_POLAR_CATARACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLAR_CATARACT	BBS2	CRYAB	PEX5	APC	ITM2B	HS2ST1	ZBTB20	CRYGB	COL4A3	VIM	MIR184	PITX3	TAOK1	HSF4	EPHA2
HP_INCREASED_CIRCULATING_ANTIBODY_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_ANTIBODY_LEVEL	FOXP3	PIK3CD	CD247	SPPL2A	POU2AF1	CASP10	IKBKG	TERT	FAS	AICDA	RASGRP1	IL4R	ADAM17	IFNGR1	ADA	KLHDC8B	MVK	COL1A1	CD40	DOCK8	IFIH1	IPO8	PRKCD	WAS	VPS33A	EXTL3	POMP	SFTPA2	IL21	NSMCE3	LIG4	PIK3R1	SFTPC	MYD88	DCLRE1C	SPIB	MS4A2	VPS45	IL2RB	IL2RG	STAT5B	IL6ST	NLRP1	GBA1	GPC3	TCF4	PSTPIP1	UNG	ELANE	PSMB9	COL7A1	CCND1	DNMT3B	IRF5	TPP2	SPINK5	SLC7A7	CD3E	CARD9	PLA2G7	ZNF341	CDSN	NCKAP1L	GPR35	SETX	GPC4	MST1	STING1	STAT3	MMEL1	KRT74	PSMB8	PGM3	TGFB1	PSMB4	KRT1	TYK2	OTULIN	XIAP	SH2D1A	IL12RB1	CARD10	FASLG	KRT9	SEMA4D	CD40LG	IRAK4	IL2RA	TNPO3	IL12A	NRAS	SCARB2	CD3D	MUC5B	TNFSF15	ALB	KRAS	HLA-DRB1	IL7R	IL6R	GTF2H5	PEPD
HP_2_4_FINGER_SYNDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_2_4_FINGER_SYNDACTYLY	CDH3	CDC45	TWIST1	NECTIN4	SALL1
HP_ABNORMALITY_OF_HAIR_TEXTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_HAIR_TEXTURE	PHGDH	CBS	IFT122	TRNT1	TMCO1	ITGA3	KRT83	COL3A1	RIT1	NSD1	EDAR	GAN	ZMPSTE24	PTPN11	KRAS	CBL	GNPTAB	ERCC6	RRAS2	PIGL	KRT71	DPYSL5	ATP6V1A	RNF113A	TRIM8	NAGLU	ARID1B	MTOR	DSG4	SUMF1	SOS2	EFNB1	SKIC2	GJB6	CCDC47	LIG4	EDA	AFF4	GNS	PERP	MED12	GJA1	SHOC2	RRAS	MRAS	SUOX	RMRP	BCS1L	LZTR1	GTF2H5	TINF2	VPS33A	MAP2K2	TGM3	KRT81	RPL21	NOTCH3	SEC23A	KRT25	GON7	HR	GTPBP2	TP63	KRT74	SUZ12	DSP	KAT6B	PPP1R15B	MPLKIP	BRF1	NECTIN1	ERCC8	EPS8L3	SCUBE3	SMAD4	AHCY	HRAS	PQBP1	GTF2E2	IFT43	SKIC3	TRPS1	PADI3	TCHH	EDARADD	SATB2	SOS1	LPAR6	GATAD2B	SGSH	ATP7A	DEAF1	ASL	KANSL1	HGSNAT	HEATR3	HPD	PPP1CB	SVBP	KRT86	CSTB	ERCC3	NSUN2	TWIST2	ALMS1	SREBF1	IKBKG	EBP	TMEM147	TNFSF11	AARS1	PCNT	KRT17	EZH2	ATP6V1E1	JUP	NRAS	GNB2	NBAS	SLC25A24	KCTD1	BRAF	H4C5	C18orf32	OFD1	ABCD1	SPRED2	WNT10A	TARS1	KRT85	MSX1	FOCAD	PYCR1	RAF1	TTC5	CLCN7	CARS1	NFIX	EED	CDK13	CERT1	WDR35	RASA2	SPINK5	TRMT10A	HNRNPH2	MAP2K1	CDSN	RIPK4	ERCC2	RPS23	SON	NOTCH2	ATAD3A	HRURF	DSC2	SNX10	NAA10	ALX4	PLOD3	USP9X	ATP6V0A2	SIN3B	FLNA	ST14	DCAF17	NECTIN4	RLIM	SLC7A7	LIPH	CDH3	OCRL	SMARCA2	PRR12	GUSB	SIN3A	TCIRG1	KANK2	RNU4ATAC	PTEN	PORCN	RPS6KA3	SMARCAL1
HP_ABNORMAL_HAIR_PATTERN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HAIR_PATTERN	LRP2	CHRNG	POLA1	TMCO1	HS2ST1	GNE	ZNF699	ZIC1	MEOX1	SMARCB1	WASHC5	FRAS1	PTPN11	KRAS	SMARCE1	SETD2	SALL4	PIGK	RPS24	CAMK2A	IFT140	PGAP1	SPATA5L1	MEGF8	SPOP	TCF12	NSD2	EDEM3	VPS51	SPECC1L	RPS27	DSG4	ADA2	TWIST2	SMARCA4	KCNN3	CNBP	PHF8	TBL1XR1	LIG4	RPS28	ANKRD11	XYLT2	MED12	RRAS	PQBP1	STAMBP	SMC1A	RIT1	ARID1B	VPS33A	SCN1A	HSPG2	FREM2	AP2M1	TGM3	RPS29	CREBBP	LZTR1	RPL35A	CHN1	FREM1	GDF6	YY1	SMO	STAG2	GMPPA	KNSTRN	PACS1	APC	IGF1	MAN1B1	HDAC4	APC2	KDM5C	ARID1A	TRIO	WRN	FOXP1	SMARCD1	FLNA	FRMPD4	PRDM13	ATP6V1B2	AEBP1	CDH2	XRCC4	ZC4H2	CAVIN1	USB1	SPEN	PEX6	MAFB	MID1	LMNA	H1-4	PPP1CB	SRY	SVBP	DPM2	RAD21	CCNK	SLC9A7	LETM1	CPLX1	IKBKG	KDM4B	EBP	SNORD115-1	CAMTA1	CUL4B	ERMARD	DHX30	NUDT2	CHD2	STXBP1	PWRN1	NRAS	ADNP	GNB2	FGFR3	SLC25A24	RPL26	BRAF	MEIS2	ABCC9	POLR1D	TCOF1	PWAR1	INTU	KRT86	ARHGEF2	FRMD4A	SPRED2	ALG12	CWC27	TCF4	TBC1D20	NOTCH3	ACTB	MADD	NSD1	KRT85	ALX3	TTC5	SLC35C1	ITGB4	FKRP	RPS19	ADARB1	CDK13	CCDC22	TRMT10A	POLR1B	COG7	BLM	ASXL1	RPS15A	EP300	NOTCH2	MAN2B1	MAGEL2	RBL2	CPOX	HUWE1	COL17A1	BSCL2	GJA8	SOX11	SMARCA2	KCNH1	SRCAP	ALG11	MYH3	THOC6	PEPD	SYNGAP1	RPS7	SOS1	CAV1	NFIX	ANTXR1	CNOT3	BRD4	NR3C1	SH2B1	CLCN3	TSC1	FGFR2	SHOC2	COG5	MKRN3	FOS	POLR1C	RAB18	RPS26	NANS	FGD1	CBL	SLCO2A1	CTBP1	GATA1	RRAS2	CDH1	HYOU1	MBD5	SATB1	HDAC8	WNT4	HR	HPGD	CDK5	FGFRL1	EFNB1	SPRED1	KREMEN1	PEX19	KDM1A	MRAS	SMPD4	TP63	RPL15	RPL11	MAP2K2	MAPK1	ACTG1	LRPPRC	TECPR2	MAPRE2	NEXMIF	RPL27	VPS13B	AIFM1	TWIST1	PPP1R15B	PPARG	RERE	DLX4	UBR1	SIN3A	PIK3CD	CD96	MED27	RPS10	UBE2A	PADI3	NEPRO	DOCK7	OGT	IFIH1	PIGG	DOCK6	RALGAPA1	DEAF1	PIK3C2A	HERC2	UGP2	PRKD1	SMARCC2	RAB3GAP2	GDF3	BICRA	TFAP2A	RPL18	NELFA	RBM10	RPL31	HEATR3	RPL5	SLC2A1	NPAP1	TBC1D24	NSUN2	ALMS1	TBX2	SLC12A6	ARX	CDC42BPB	NOVA2	NIPBL	DMPK	H4C5	SNORD116-1	ABCD1	SETD5	LMX1B	TAF6	CDH3	PPP2R1A	SOX4	MYO18B	SOS2	BRCA1	H3-3A	ALDOA	TSR2	INSR	CHST3	HRAS	ALX1	GDF11	SMC3	KCNJ8	ECM1	NBN	SYT1	ASH1L	ZMPSTE24	RASA2	IRX5	RAF1	MAP2K1	RAB3GAP1	RPS20	ARID2	STT3A	GJA5	EMC1	GRIP1	DPH2	ANKRD17	RPS17	MED13L	PPP2R3C	DPF2	SCNM1	NECTIN4	NF1	KRT83	TBX15	LAMB3	IL2RA	PEX1	RPL35	MAB21L1	B3GAT3	KRT81	ALG9	PORCN	SLC6A1	AGPAT2	WBP11	MAP3K7
HP_ABNORMAL_HAIR_WHORL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HAIR_WHORL	UBE2A	CREBBP	TCF4	NPAP1	PPP2R1A	TRIO	EP300	POLA1	SNORD115-1	WRN	OGT	CAMTA1	FOXP1	MKRN3	YY1	FLNA	PWRN1	FRMPD4	MED12	MAGEL2	HERC2	STAMBP	UBR1	SNORD116-1	PWAR1	MED13L	PPP2R3C	MAN1B1	LMNA	HDAC4	CAMK2A	IRX5	IFT140	MED27
HP_ASYMMETRY_OF_THE_EARS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASYMMETRY_OF_THE_EARS	SMS	GAD1	RAB3GAP2	BCOR	ASH1L	PUF60
HP_CHERRY_RED_SPOT_OF_THE_MACULA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHERRY_RED_SPOT_OF_THE_MACULA	GALC	SMPD1	PSAP	NEU1	GLB1	ASAH1	GM2A	HEXB	CTSA	TMEM231	DARS1
HP_NODULAR_CHANGES_AFFECTING_THE_EYELIDS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NODULAR_CHANGES_AFFECTING_THE_EYELIDS	PCSK9	SPRED1	PRKAR1A	PPP1R17	APOA1	EPHX2	LPL	GHR	APOA2	APOE	SLC37A4	ABCG8	PDE11A	G6PC1	CYP27A1	ABCA1	LDLR	APOB	TTPA
HP_NAEVUS_FLAMMEUS_OF_THE_EYELID	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NAEVUS_FLAMMEUS_OF_THE_EYELID	DIS3L2	DVL3	DVL1	FZD2	WNT5A	ASXL1	PUF60
HP_OSTEOPATHIA_STRIATA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOPATHIA_STRIATA	WDR26	PORCN	RAB3GAP2	TONSL	AMER1
HP_PEDAL_EDEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PEDAL_EDEMA	TBX20	MAGEL2	SNRPN	TLL1	COL2A1	GATA6	PLAA	ATRX	MYH6	CITED2	USP8	EPHB4	OCA2	MKKS	PRKAR1A	NDN	NKX2-5	SETD2	ACTC1	RNF13	APC2	TP53	RBM8A	GJC2	TIE1	NSD1	MYD88	BRAF	KIF1A	GBA1	NR3C1	MEFV	ATP7B	FN1	ZNHIT3	CDH23	SCARB2	IRF4	USP48	TGM1	FLT4	EIF2AK4	ALB	GATA4
HP_APLASIA_OF_THE_PHALANGES_OF_THE_TOES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_PHALANGES_OF_THE_TOES	BMPR1B	LMNA	KCNN3	VAC14	EOGT	GDF5	FIG4
HP_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_TOES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_TOES	ARID1B	WLS	VAC14	FIG4	IHH	NOG
HP_MEDIAL_FLARING_OF_THE_EYEBROW	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEDIAL_FLARING_OF_THE_EYEBROW	BBS2	MKKS	NRCAM	BBIP1	SCAPER	WDPCP	NPHP1	LZTFL1	BBS4	BBS5	IFT27	CFAP418	SIN3A	IFT172	CEP290	MLXIPL	BBS1	TRIM32	APTX	GNB2	ARL6	PRKD1	BBS7	BBS10	TTC8	BBS12	CEP19	BBS9	SDCCAG8	MKS1	IFT74	ELN
HP_BLEPHAROCHALASIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLEPHAROCHALASIS	GSN	COL1A1	COL5A2	ADAMTS2	COL5A1	CDH11
HP_DERMATOCHALASIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DERMATOCHALASIS	FBLN5	COL1A1	COL5A2	KNSTRN	COL5A1	LTBP1	PIK3CD	EFEMP2
HP_DIMPLE_CHIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIMPLE_CHIN	PIEZO2	TWIST2	MYH3	CHD7	SMARCA2	KCNJ6	EZH2	PIK3R1	SEMA3E	TBX22	TFAP2A	SPECC1L	CTU2	NALCN	RUNX2
HP_ABNORMALITY_OF_THE_TEMPOROMANDIBULAR_JOINT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_TEMPOROMANDIBULAR_JOINT	GNAI3	EDN1	ZMPSTE24	PTPN2	COL1A1	IL2RA	IL2RB	COL5A1	SF3B4	IDS	PTPN22	COL5A2	PLCB4	STAT4	ANKRD55	VPS13A	LAMA2	LMNA	CD247
HP_ABNORMALITY_OF_THE_PREMAXILLA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PREMAXILLA	PEX19	GLI2	NFIX	NRAS	SIX3	EFEMP2	PTCH1	COLEC11	HRAS	SMOC1
HP_PROMINENCE_OF_THE_PREMAXILLA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENCE_OF_THE_PREMAXILLA	PEX19	NFIX	NRAS	EFEMP2	COLEC11	HRAS
HP_ABSENT_TOE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_TOE	EOGT	FLNA	LMBR1	NEK1	LETM1	CPLX1	WNT7A	NOTCH1	GJA1	NOTCH2	ARSL	HOXA13	WNT10B	NOG	ACVR1	FGFR1	FIG4	GDF5	MAP3K20	GLI3	MGP	ABCC9	RIPK4	DLX5	PIGF	SALL4	EIF4A3	CTBP1	NSD2	DLL4	HOXD13	SALL1	ARID1B	KCNH1	CHSY1	TRPV4	FGFR2	GPC4	BMPR1B	FGFRL1	IHH	PUF60	SMOC1	LMNA	RBPJ	ARHGAP31	KCNN3	NSDHL	BMP2	PIGG	CHST11	KCNJ8	DOCK6	KAT6A	LRP4	APC	BHLHA9	SF3B4	PORCN	NELFA	VAC14	DACT1	ROR2	PTHLH
HP_BROAD_COLUMELLA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_COLUMELLA	PIK3C2A	CKAP2L	ALX4	ZSWIM6	EXOSC2	H4C5	CWC27	PPP1R21	GJA1	RDH11	ATP6V1E1	FLI1	HDAC4
HP_ECTOPIC_CALCIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTOPIC_CALCIFICATION	VPS35L	MT-ND4	HYAL1	ERCC6	SPINK1	MGP	TREM2	PRSS2	ABCC6	TYROBP	SLC20A2	TSC1	ACP5	PAH	SAMHD1	ARSL	TREX1	LDLRAP1	ZBTB20	LBR	STAT1	ANKH	MYMX	ATOH7	LIPA	PDGFRB	IRF8	CPT2	RNASEH2A	MYORG	PRSS1	RNASEH2C	CYP2U1	LEMD3	MEG3	CSF1R	TERT	RNU7-1	SNORD118	ADAR	TNFRSF11B	KRAS	GNAQ	PRKAR1A	ECM1	ENPP1	COL2A1	NSMCE3	IFIH1	GNA11	CTNS	CASR	PI4KA	PEX26	FAM111A	GDF5	MT-TH	MT-TL1	SLC26A2	NHP2	SLC25A46	PEX3	OCLN	ATP7B	PDGFB	ERCC4	TNFRSF11A	GJA1	NOP10	PARN	GNAS	PTH	PEX16	KCNJ1	LSM11	ERCC8	EBP	RTEL1	TINF2	DAG1	PEX1	ALPL	XPR1	VPS33A	SLC29A3	PEX6	SLC34A2	RNASEH2B	SMAD6	HLA-DQB1	CTRC	SLC46A1	ERCC5	MTX2	NDP	HSD17B4	CFTR	MYMK	PEX19	FAM20C	PEX7	HGD	DHCR7	PSMB8	PTCH2	BMPR1B	GCM2	PTCH1	CTNNB1	BRAF	B2M	CPA1	SLC12A1	GALNT3	COL11A1	FZD4	USB1	CTC1	DKC1	NT5E	CTSC	PEX13	MT-ND6	PPFIBP1	CA2	FBN1	WRN	CDC73	NPM1	SUFU	TNFRSF1A	GBA1	ATP7A	QDPR	MT-TS2	NEU1	PSMG2	PEX2	NKX2-5	MT-TQ	LMNA	STAT2	SC5D	GATA5	FLNB	MT-ND5	PTH1R	TTC7A	GNPAT	SLC12A3	SMARCB1	MYO5A	JAM2	ERCC2	KRIT1	PEX11B	DENND5A	ODC1	KARS1	WRAP53	MEN1	MT-CO1	CYP11A1	PEX12	LDLR	DLK1	FARSB	AGPS	CLCNKB	ISG15	FGFR1	IFNG	COLGALT1	PEX5	AP1S2	PEX10	APOB	RB1	AIRE	ZMPSTE24	APP	COL9A1	LRP5	AP2S1	AGXT	NOTCH1	TCIRG1	GATA3	RELN	TYMS	HLA-DQA1	NRAS	NOTCH3	KATNB1	SLC4A4	ABCG5	PEX14	KL	MT-CO2	PDE4D	ABCG8	NDE1	CCN6	DNM1L	ERCC1	HRAS	OPA1	FXYD2	RTL1	ZNFX1	MT-TF	THRB	ERCC3	TOM1	DDR2	GGCX	MEFV	SLC2A1	FGF23	NSDHL	RNASET2	ACD	PSMC3	SNRPB	MT-CO3	USP18	MT-TW	PCSK9	ACVR1	AMER1	GUSB	TSC2	TERC	MT-ND1	SUCLA2
HP_PARTIAL_ANOMALOUS_PULMONARY_VENOUS_RETURN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARTIAL_ANOMALOUS_PULMONARY_VENOUS_RETURN	MED12	SMAD2	FOXF1	SMC1A	NODAL	MYRF	WT1	GATA1	CIROP	TMEM260
HP_HYPERACUSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERACUSIS	TMEM270	DNAJC30	PPM1D	BCL7B	MLXIPL	TRIO	VPS37D	GM2A	GTF2I	NCF1	DEAF1	RAI1	GTF2IRD1	IQSEC2	EIF4H	BUD23	CLIP2	GTF2IRD2	LIMK1	FKBP6	FLII	HEXB	METTL27	RFC2	STX1A	BAZ1B	ELN	TBL2
HP_SKIN_DIMPLE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_DIMPLE	DNAJC30	SOX9	NSUN2	CTCF	DVL1	LETM1	ODC1	CPLX1	VPS37D	NSD2	FUZ	AFF3	TBXT	EPHB4	SMG9	ZNF699	GNB2	CAPN15	RAB23	NDUFB11	H4C5	HNRNPK	EXTL3	PAFAH1B1	AEBP1	CTBP1	COLEC10	METTL27	CAMK2G	DVL3	FZD2	SPOP	TCF4	HIC1	ARID1B	KCNK9	COX7B	CDK10	WNT5A	FGFRL1	MAN2C1	GRB10	RPL10	VANGL1	SCARF2	HCCS	LIG4	GTF2IRD1	SETD5	MED12	CCL2	DCHS1	KIF15	BUD23	TAF1	OTUD6B	DPAGT1	ASXL1	BAZ1B	RMRP	ELN	ALPL	BCL7B	POLA1	MLXIPL	NADSYN1	NCF1	FANCB	HOXA13	SUGCT	B9D2	PSMD12	DHCR7	KANSL1	EIF4H	SHANK3	SCYL2	ERGIC1	B3GLCT	GTF2IRD2	LIMK1	USP9X	FKBP6	DHPS	COL25A1	ANK1	DYRK1A	NCAPG2	NXN	CD96	FAT4	RFC2	KMT2A	ZIC3	TBL2	TMCO1	TMEM270	YWHAE	WLS	BAP1	PRR12	FANCF	GTF2I	MASP1	PIGG	EBP	DEAF1	CLIP2	VANGL2	TBX4	NELFA	ROR2	STX1A	LIFR
HP_ERYTHEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERYTHEMA	NOD2	NLRP3	ATP2C1	MT-ND4	PERP	MT-ND5	CTLA4	BLM	IKBKG	ITGA3	KRT2	ADAM17	SLC39A4	GJB3	GNB2	LIG4	NDUFB11	GJA1	DDB2	MT-CO1	MVK	KIT	KCNQ2	KRT5	SREBF1	FECH	ELOVL4	HLA-DQB1	XPA	ERCC2	SERPING1	ERCC4	GJB4	MEFV	MT-TH	COX7B	CLEC7A	ALOXE3	MT-TL1	HCCS	ALOX12B	PDGFB	MBTPS2	RECQL4	TNFRSF1B	IL36RN	SLURP1	EGFR	KRT1	TGM1	ERCC3	SULT2B1	XPNPEP2	GLUL	DDR2	LRP1	GJA5	COL7A1	KRT10	HLA-B	DST	KRT83	STING1	PLCG2	RNF168	CSTA	ALDH3A2	DSP	PSMB8	DSG4	MT-CO2	AQP5	FERMT1	TRAF3IP2	TGM5	KDSR	CD28	AP1S1	IL17RA	STAT3	PGM3	TREX1	IKZF1	PIGL	SCN10A	CDKN1B	MT-TF	LORICRIN	GJA8	HPGD	XPC	SCN11A	SCN9A	WNT10A	TRPM4	PORCN	MT-ND6	COL1A1	TRPV3	HLA-DRB1	ADGRE2	CTSB	NSDHL	TNFRSF1A	IL17F	RHOH	MT-TS2	ANAPC1	PEPD	LIPN	MT-CO3	PSMG2	XRCC4	IL17RC	MT-TW	KRT14	AIP	USP8	NAXD	ERCC5	MT-TQ	MT-ND1
HP_GONADAL_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GONADAL_NEOPLASM	PMS1	SPRED1	ZFTA	PTCH2	MBD4	DMRT3	DHH	TP53	SETBP1	PALB2	BRCA1	KIT	FGFR2	NR5A1	PTEN	BRCA2	AR	ZFPM2	PDE8B	NR0B1	MAP3K1	SETD2	MSH3	KRAS	CDKN1C	IGF2	RAD51C	FGFR3	MRAP	VAMP7	DHX37	MNX1	PAX6	PRKAR1A	PDE11A	CDH1	MSH2	STS	FLI1	GATA4	NSD1	BCL10	SRY	FAN1	PALLD	WT1	DICER1	PIK3CA	WWOX	MDM2	MSH6	MRE11	AKT1	BRIP1	STAR	EPCAM	FOXE1	CDKN2A	STAG3	HNF1B	VHL	OPCML	CREBBP	MLH1	EP300	TGFBR2	PMS2	SMAD4	PRKACA	WNT10A	CHEK2	KANSL1	RAD51	CYP11B1	TXNRD2	STK11	RAD50	CTNNB1	CDKN1B	RELA	MLH3	PTCH1	APC2	CCND1	RABL3	RNF43	ERBB2	WRN	RAD51D	CDC73	MC2R	SUFU	PRKN	BARD1	KEAP1	NNT	SOX9	IDH1	KCNQ1OT1	EWSR1	LMNA	KCNQ1	IDH2	NBN
HP_URINARY_TRACT_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URINARY_TRACT_NEOPLASM	PMS1	HNF1B	SDHB	FGFR3	GPC4	TSC1	SDHD	BAP1	VHL	FOXE1	APC	NR5A1	MINPP1	HABP2	ZFPM2	OGG1	IGF2	RET	TSC2	FLCN	ASXL1	SEC23B	H19	PHF21A	MSH2	MSH6	FH	STK11	SRY	FAN1	WT1	TP53	BUB1B	WWOX	GPC3	MAX	RNF139	IFNG	KRAS	PIK3CA	DICER1	DIS3L2	MLH3	NTHL1	AKT1	TRIP13	MLH1	HNF1A	SRC	PTPRJ	DLC1	CDKN1B	HRAS	POU6F2	CCND1	TRIM37	NF1	PDGFRL	WRN	CDC73	TRIM28	BMPER	BRCA2	SOX9	SDHA	KCNQ1	REST	EP300	AXIN2	PTEN	SPRED1	NOD2	FIBP	BRAF	DMRT3	KLLN	BUB3	EXT2	CEP57	MVK	MET	USF3	TMEM127	RAD54B	NRAS	POT1	MDH2	NR0B1	SETBP1	CDKN1C	ATP7A	VAMP7	PBRM1	DHX37	TFE3	PAX6	GATA4	PTPN12	SDHC	MCC	SLC25A11	HDAC4	AAGAB	MDM2	KIF1B	EPCAM	RPS20	CDKN2A	BLM	MAP3K1	PRCC	TGFBR2	AURKA	BUB1	PMS2	DCC	PALB2	CHEK2	RB1	FERMT1	B3GALT6	TLR2	BMPR1A	COL14A1	SEMA4A	LMNA	CTNNB1	RNF43	ARMC5	PTCH1	KCNQ1OT1	ALX4	KEAP1	GNAS	PLA2G2A	BAX	DLST	SDHAF2
HP_GENITAL_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENITAL_NEOPLASM	PMS1	ZFTA	MBD4	TP53	SDHD	BRCA1	KIT	FGFR2	APC	DHH	NR5A1	AR	STAT6	ZFPM2	SETD2	IGF2	PTEN	SEC23B	MNX1	POLD1	CDH1	MSH2	STS	MSH6	BRCA2	SRY	FAN1	WT1	BUB1B	WWOX	AKT1	KRAS	PIK3CA	FOXE1	EPCAM	MLH3	HNF1B	NTHL1	OPCML	CREBBP	RNASEL	TRIP13	MLH1	RAD51	EPHB2	SRC	CDKN2A	CYP11B1	PTPRJ	TXNRD2	DLC1	CTNNB1	CDKN1B	PTCH1	KLF6	APC2	CCND1	RABL3	ERBB2	PDGFRL	WRN	RAD51D	CDC73	SUFU	COL4A5	NNT	SOX9	IDH1	PMS2	KCNQ1	EP300	AXIN2	NBN	SPRED1	PTCH2	BRAF	DMRT3	BUB3	FH	SETBP1	POLE	PALB2	CEP57	SDHB	USF3	RAD54B	NRAS	PDE8B	NR0B1	MAP3K1	MSH3	CDKN1C	RAD51C	FGFR3	MRAP	VAMP7	DHX37	PAX6	PRKAR1A	PDE11A	FLI1	GATA4	NSD1	PTPN12	BCL10	MCC	PALLD	BMPR1A	DICER1	AAGAB	MDM2	COL4A6	MRE11	BRIP1	STAR	RPS20	SLC6A17	MXI1	STAG3	DOCK8	VHL	TGFBR2	AURKA	BUB1	DCC	SMAD4	PRKACA	ZFHX3	WNT10A	CHEK2	NAB2	KANSL1	FLCN	TLR2	STK11	RAD50	COL14A1	SEMA4A	RELA	RNF43	MC2R	PRKN	BARD1	KEAP1	KLLN	KCNQ1OT1	PLA2G2A	EWSR1	LMNA	GREM1	IDH2	SDHC	BAX	MAD1L1
HP_ABNORMALITY_OF_THE_LEYDIG_CELLS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_LEYDIG_CELLS	PRKAR1A	CYP11A1	STAR	ALMS1	NNT	TXNRD2	LHB	GNAS	MC2R	SMS	PDE11A	MRAP	FSHB
HP_IMPAIRED_VISUOSPATIAL_CONSTRUCTIVE_COGNITION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_VISUOSPATIAL_CONSTRUCTIVE_COGNITION	MT-ND4	MT-ND6	POMT1	MT-ND5	NOTCH3	MT-TH	MT-TL1	HTT	NF1	GABRB3	PSMD12	MLXIPL	MAPT	MT-CO2	GABRG2	CACNA1H	ABCD1	SLC2A1	MT-TS2	PRKAR1B	MT-CO3	GABRA1	MT-CO1	SLC2A3	MT-TW	MT-TF	MT-TQ	JRK	PMPCA	ELN	BPTF	DARS2	KCNC3	MT-ND1
HP_HEMANGIOBLASTOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMANGIOBLASTOMA	TMEM127	KIF1B	NF1	SDHB	SDHD	PTEN	VHL	MAX	MDH2	FH	SDHA	SDHC	SLC25A11	CCND1	RET	DLST	SDHAF2	BMPR1A
HP_EVERTED_UPPER_LIP_VERMILION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EVERTED_UPPER_LIP_VERMILION	EDA2R	WDR26	CREBBP	AP4M1	NAA10	AP4B1	AP4E1	RAI1	DNMT3A	MAP1B	KCNK4	EDAR	KCNH1	EDA	EPG5	KIF7	GBA1	H4C9	SETD1A	EDARADD	TCF3	AP4S1
HP_TENTED_UPPER_LIP_VERMILION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TENTED_UPPER_LIP_VERMILION	PIGN	MECP2	TGIF1	KDM4B	WDR4	TMEM147	PLAA	PIGB	DEAF1	MYL2	IER3IP1	RYR1	SUFU	PURA	GALNT2	PIGY	KCNJ6	MEG3	CSF1R	MEIS2	CHAMP1	FBXO28	CYFIP2	PIGV	PAX3	FOXG1	FGFR1	ALDH6A1	ZIC2	NSRP1	GLI2	DLK1	H3-3A	PPP2R1A	RAPSN	KCNK9	RSPRY1	GPC4	DISP1	SLC25A46	DDB1	TTC5	TAF8	MYOD1	NALCN	SIX3	ADAMTSL1	DCHS1	NODAL	SMPD4	UNC80	ATRX	CLCN3	PGAP2	PREPL	NEXMIF	DIS3L2	HOXB1	PRKACB	DPM1	CHMP1A	CDC42	NRCAM	EEF1A2	PPP1R21	MICU1	STRADA	TDGF1	DMPK	TMEM237	FOXH1	ANKRD11	IQSEC2	PGAP3	MESD	PIGT	RAB11B	PIGW	MSL3	TCF20	FLII	RTL1	TBCK	NCAPG2	NXN	FAT4	CDON	PIGO	BRAT1	TGFB3	MBD5	BAP1	SHH	KCNH1	RAI1	GAS1	MED25	PTCH1	ZNHIT3	GNAI1	DLL1	FGF8	ROR2	PIGL	IL1RAPL1
HP_U_SHAPED_UPPER_LIP_VERMILION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_U_SHAPED_UPPER_LIP_VERMILION	OFD1	ZC4H2	MAPK1	CDK19	ATRX	ZSWIM6	DPM1	EHMT1
HP_OPEN_BITE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPEN_BITE	HNRNPK	DNAJC30	BCL7B	RELT	MLXIPL	DVL1	VPS37D	NOTCH2	NCF1	CUL4B	PRKAR1A	PTEN	AMELX	RAI1	TWIST1	PDE4D	EIF4H	ITGB6	POLR1C	GPR68	GTF2IRD2	LIMK1	DSPP	POLR1D	MMP20	FGFR2	TCOF1	FKBP6	ENAM	METTL27	ATP6V1B2	NXN	DVL3	RFC2	FZD2	KCNH1	TBL2	OFD1	TMEM270	OCRL	PORCN	FAM83H	ADAMTS2	WNT5A	GTF2I	BRAF	GTF2IRD1	RUNX2	KCNN3	HNRNPH1	GNAI3	POLR1B	KLK4	BUD23	CLIP2	BMP2	SOBP	FGFR3	ARSK	ROR2	STX1A	BAZ1B	ELN
HP_PROTRUDING_TONGUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROTRUDING_TONGUE	UBE3A	MGAT2	GRIK2	LMNB1	ADGRG1	ATRX	PIGB	SRPX2	KIF7	DHX30	FAM20C	LAMA2	ZNF699	OCA2	NRXN1	FBXO28	NEU1	EHMT1	PTH1R	SET	GATA1	CDCA7	GLB1	INPP5E	CLIC2	ZBTB24	TAF1	SLC35C1	TRIP11	DNMT3B	PI4KA	RALGAPA1	PEX1	HELLS	SNRPN	CCDC22	NFIX	SLC25A24	COG7	CSNK2B	VPS13A	FTO
HP_NEVUS_SEBACEOUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEVUS_SEBACEOUS	HRAS	NRAS	BRAF	SMO	KRAS
HP_EPIDERMAL_NEVUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIDERMAL_NEVUS	AKT1	HRAS	NRAS	KRAS	PIK3CA	BRAF	NEK9	PTEN	NSDHL	SMO
HP_GENERALIZED_TONIC_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_TONIC_SEIZURE	SCN2A	KCNA1	EEF1A2	CDKL5	TRIM8	SCN1B	COG2	TANGO2	PRRT2	STXBP1	GNAO1	PCDH19	SCN1A	CASK	PIGT	CACNA1A	TBCD	KARS1	PIGQ	MDH2	GRM7	DOCK7	ARX	NECAP1	DMXL2	KCNQ2	CPLX1	GRIN1	CHD2	SATB1	ADGRV1	SCN9A	PIGP	GRIN2A	NEUROD2	RPL10	CUX2	HCN2	MAPK10	SLC25A22	SLC6A19	GABRB3	ARHGEF9	GNB1	KCNQ3	DNM1	GABRG2	CACNB4	SLC1A2	GABRA1	SIK1	SCN8A	PAFAH1B1	PNKP	DPM1	VPS50
HP_ATONIC_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATONIC_SEIZURE	KCNA1	SCN1A	PHGDH	GPAA1	SCN1B	CHD2	SLC6A1	GABRB3	PLPBP	GNB2	CACNA1A	ARFGEF1	ALDH7A1	GRM7	DOCK7	STX1B	PCDH19	GABRG2	DOHH	PTEN	EPM2A	ASAH1	AP2M1	HCN2	MAPK10	SLC25A22	AKT3	CDKL5	DNM1	SCN2A	GNAO1	MTOR	GABRD	NEXMIF	GRIN1	GRIN2A	ALDH4A1	ADGRG1	DPM1	CUX2	TRIM8	GAMT	CAMK2B	RUSC2	NGLY1	KCNB1	CASK	KCNC2	GABRA1	PIGQ	ARX	ATP6AP2	DMXL2	DYRK1A	FRRS1L	PIK3CA	ADGRV1	SCN9A	COX8A	PRICKLE1	PIGP	NHLRC1	PIGM	NEUROD2	CEP85L	IQSEC2	HCN1	ALG13	GNB1	GOSR2	HNRNPU	SYNGAP1	SIK1	CSNK2A1	PAFAH1B1	PNKP	SLC2A1
HP_ABNORMALITY_OF_THE_SEVENTH_CRANIAL_NERVE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_SEVENTH_CRANIAL_NERVE	KLHL40	TFG	SMARCE1	FKRP	SEMA3E	VCP	CHRND	MTMR14	GJC2	POMT1	LRP12	MYMX	MYL2	ACTA1	LRP4	SIX1	GAN	MEGF10	FKTN	MYMK	TK2	PEX13	PLEC	TPM2	MYPN	TTN	COL13A1	LMOD3	SOST	NARS2	CNTNAP1	LRP5	TCIRG1	AGRN	DNA2	TUBB6	RRM2B	SLC18A3	TGFB1	PEX3	BAG3	NEB	SMO	SMCHD1	PEX1	HLA-DRB1	SHMT2	PI4KA	OSTM1	CLCN7	CFL2	TWNK	SLC5A7	ASAH1	POMT2	UBA1	BMS1	AK9	PDGFB	POLG	HOXB1	ANO5	DNM2	COL6A2	UBA2	KY	HK1	BIN1	GMPPB	MUSK	KBTBD13	GFPT1	YME1L1	CRPPA	GJA1	LARGE1	EYA1	VAMP1	PEX5	NEFL	CHRNA1	GLE1	SLC52A3	MYH7	LAMA2	FRG1	BAP1	SH3TC2	ZC4H2	SPEG	AKT1	DCTN1	PEX16	RYR1	DES	PEX6	POLG2	CHRNE	PABPN1	NF2	ZFHX4	ANKH	TRPV4	COL12A1	ABCA1	CAPN3	CHKB	KLHL41	DNAJB6	CHD7	DOK7	MPZ	SUPT16H	BICRA	TFAP2A	GSN	MYO9A	NOD2	COL6A3	SLC12A6	SLC25A4	PEX19	ADGRG1	SRPX2	ADSS1	DLL4	SCO2	SIX5	SLC39A14	ALG2	SQSTM1	SPTBN4	DMPK	PEX2	COLQ	PIK3CA	TRIM32	TERT	TOR1A	SMARCB1	ADCY6	CHRNB1	CRYAB	CHCHD10	SLC25A1	ITGB4	CHAT	REV3L	SCN4A	SELENON	PTRH2	GNE	SNAP25	MTMR2	PLXND1	SGCD	DPAGT1	MTRFR	MTM1	BTNL2	SLC52A2	TPM3	XRCC2	LAMB2	PEX10	TRAF7	SUFU	SLC19A3	PEX11B	SALL4	SNX10	ADA2	PEX14	RAPSN	CRLF1	TUBB3	ALG14	PUF60	SYT2	PTDSS1	SUCLA2	PEX12	KIF1B	SYNE1	PEX26	MGME1	AMER1	COL25A1	COL6A1
HP_HEMIFACIAL_SPASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMIFACIAL_SPASM	PIK3CA	BAP1	TERT	SMARCB1	NF2	SMARCE1	AKT1	INPP5E	PDGFB	SMO	TRAF7	SUFU
HP_IMPAIRED_TEMPERATURE_SENSATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_TEMPERATURE_SENSATION	MAGEL2	PRRT2	TGM1	SNRPN	ATL3	ABCA1	HPGD	PRDM12	KRT9	PMP22	MFN2	KRT16	OCA2	NTRK1	SPTLC2	ATP1A2	NDN	RNF170	JAG1	CACNA1A	LMX1B	KRT1	SPTLC1	SLCO2A1	NGF	AEBP1	HEXB	SIM1	ATL1	SCN1A	ZFHX2	HSPB1
HP_IMPAIRED_TACTILE_SENSATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_TACTILE_SENSATION	GALC	TWNK	POLG	SPTLC1	MTRFR	ATL3	PNPT1	VCP	SETX	HK1	BSCL2	SACS	KRT9	PMP22	KRT16	MPV17	SPTLC2	RAB7A	MORC2	DHH	GDAP1	NARS1	RNF170	CLTCL1	KRT1	KLHL9	ATXN1	ADA2	PLEKHG4	HARS1	VWA1	DCAF8	ATL1	ATP13A2	DDHD1
HP_IMPAIRED_PROPRIOCEPTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_PROPRIOCEPTION	ALDH18A1	CHCHD10	VPS41	GBA2	SLC33A1	FXN	POLG	DNAJC3	HSPD1	BSCL2	PI4KA	OPA3	SACS	SCO2	MFN2	SAMD9L	VAMP1	SAR1B	KIF5A	FGF14	PDYN	HAX1	MORC2	RNF170	ZFYVE26	SPG11	GPI	NEFL	PNPT1	POLR3A	VPS13D	RTN2	KLHL9	MT-ATP6	EGR2	MPZ	ATP1A1	TGM6	KLC2	PLOD1	NIPA1	SLC12A6	PEX6	FMR1	PMP2	UCHL1	ATL1	SYNE1	ATXN8OS	KCNC3	DDHD1	MAG	SPG7	SLC25A15	TWNK	ATN1	ABCD1	NEFH	SPTLC1	MTRFR	REEP1	CACNA1G	SH3TC2	KCND3	IRF2BPL	PRX	SORD	PRDM12	POLR3B	DHH	TPP1	PRKCG	GCH1	PEX10	SPAST	SPTLC2	NR4A2	ATXN1	PLEKHG4	MT-TE	VPS13A	VPS37A	DCAF8	REEP2	PDK3	DARS2	FLRT1	KPNA3	SETX	FAR1	CPT1C	UBAP1	APTX	PIEZO2	WASHC5	ERLIN2	CADM3	HINT1	PMP22	GDAP1	C19orf12	XK	TBP	SPTBN2	ARSI	KNSTRN	ERBB3	PIK3CD	WDR48	NAGLU	ATXN2	HARS1	CHP1	TDP1	DHTKD1	TTPA	FLVCR1	RFC1	LITAF	BEAN1	VCP	HK1	SPART	CYP7B1	AMPD2	B4GALNT1	ATXN3	AARS1	MTTP	LMNB1	STUB1	IMPDH2	JAG1	LRSAM1	GARS1	KIF1A	PRORP	PLD3	XRCC1	ATP13A2
HP_ABNORMALITY_OF_PAIN_SENSATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_PAIN_SENSATION	NLRP3	HNRNPK	ZFTA	NPAP1	SYNGAP1	CDKL5	IARS2	ATL3	SNORD115-1	NGF	NGLY1	DEAF1	PRNP	SCN9A	MFN2	MKRN3	PWRN1	SPTLC2	ATP1A2	NEFL	PNPT1	HDAC4	CHAMP1	SNORD116-1	PWAR1	ABCD1	PMP2	ABCA1	DDHD1	HSPB1	MADD	SH3TC2	SORD	PRDM12	DNM1L	ZEB2	MEN1	DKK1	FBN1	PMP22	GABRG2	RAI1	SRPX2	FMR1	SPTLC1	ATXN1	MECP2	GRIA3	H19	SCN10A	ALDH4A1	DSE	PDK3	ZFHX2	MPZ	IGF2	GRIN2A	WNK1	SCN11A	GJB1	FAR1	GABBR2	ALDH18A1	CHST14	LIFR	UBTF	NTNG1	NTRK1	MAGEL2	IQSEC2	SHANK3	GDAP1	AIFM1	FLII	HARS1	TDP1	RELA	MPV17	PEX16	YY1	RETREG1	KDM5C	PRRT2	TRIO	VCP	HK1	EBF3	KCNQ1OT1	TMEM218	SDHA	SMC1A	ELP1	CCT5	HERC2	MCM3AP	JAG1	CLTCL1	CACNA1A	KIF1A	LMX1B	PRPS1	ATL1	SCN1A
HP_SPONTANEOUS_PAIN_SENSATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPONTANEOUS_PAIN_SENSATION	PRRT2	CACNA1A	PMP22	SCN1A	ATP1A2
HP_TROPHIC_CHANGES_RELATED_TO_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TROPHIC_CHANGES_RELATED_TO_PAIN	NTRK1	ATL3	ATL1	SPTLC2	SPTLC1
HP_ABNORMAL_CIRCULATING_COPPER_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_COPPER_CONCENTRATION	SLC33A1	ATP6V0A2	ATP6AP1	TMPRSS6	SPATA5	COG2	AP1B1	AP1S1	SCO2	CP	ATP7B
HP_MULTIFOCAL_EPILEPTIFORM_DISCHARGES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIFOCAL_EPILEPTIFORM_DISCHARGES	KCNA1	ASPA	SCN2A	CDKL5	TRIM8	SCN1B	SPTBN1	SLC25A10	ATP1A3	CARS2	ST3GAL5	FGF12	CASK	PLPBP	PCDH19	PIGT	ARFGEF1	ALDH7A1	ALG1	PIGQ	GRM7	DOCK7	SCN1A	ARX	DEPDC5	DPYD	DMXL2	MED13L	GRIN1	GABBR2	NPRL3	SATB1	NPRL2	DOLK	SCN9A	PIGP	MYD88	NEUROD2	LRPPRC	CHD2	KCNMA1	SLC25A22	GNB1	ACTL6B	GABRG2	SUOX	GNAO1	ADK	CLTCL1	GABRA1	SIK1	SCN8A	CLN5	PNKP	PPP3CA
HP_EEG_WITH_MULTIFOCAL_SLOW_ACTIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_MULTIFOCAL_SLOW_ACTIVITY	CACNA1A	KCNA2	SLC38A3	SCN8A	EEF1A2	DNM1	YWHAG	GABRA5	GRIN2D	CACNA2D1	NECAP1	CDK19	CACNA1B	SCN3A	PPP3CA	ATP6V1A	SZT2	SLC13A5	FGF13	ATP1A3	DALRD3	SYNGAP1	AP3B2	CNKSR2	GABBR2	GRIN2A	DHDDS	ARV1	CYFIP2	GABRB2	NTRK2	CELF2	UBA5	ATP1A2	PIGY	NUS1	PARS2	SLC1A2	FGF12	FZR1	SYNJ1	ACTL6B	WWOX	AARS1	TRAK1	GABRA2	GABRG2	HCN1	KCNB1	CLTC
HP_EEG_WITH_GENERALIZED_SLOW_ACTIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_GENERALIZED_SLOW_ACTIVITY	C9orf72	KPTN	DOLK	MAPT	NEXMIF	GRN	CNTNAP2	TMEM106B	TREM2	CDKL5	CHMP2B	CHD2	MECP2	SQSTM1	PLPBP	LMNB1	ALDH7A1	HID1	SYNGAP1	VCP	PSEN1	SLC6A1	SCN1A	CYP27A1	DPAGT1	AP2M1	CLN5	SLC2A1	RNF13
HP_EEG_WITH_SPIKE_WAVE_COMPLEXES_2_5_3_5_HZ	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_SPIKE_WAVE_COMPLEXES_2_5_3_5_HZ	SLC2A1	GABRB3	JRK	SETD1B	KCNA2	GABRA1	GABRG2	CACNA1H
HP_EEG_WITH_SPIKE_WAVE_COMPLEXES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_SPIKE_WAVE_COMPLEXES	KCNA1	SCN1A	KCNMA1	AASS	APC2	CACNB4	SCN1B	ADGRG1	SRPX2	CSTB	CILK1	CHD2	KCNQ3	CACNA1H	SLC18A3	PIGY	GRM7	GABRA1	COL13A1	PIGV	STX1B	GABRD	GABRG2	SLC25A1	CHAT	TBC1D24	AP2M1	SLC25A22	JRK	AKT3	CDKL5	SYT1	PI4KA	SCN2A	GNAO1	SLC5A7	MTOR	SNAP25	PGAP2	PRICKLE1	SCN8A	CLN5	PSAT1	GRIN2A	NEXMIF	EFHC1	TRIM8	VAMP1	GABRB3	CASK	AGRN	KCNC2	SLC2A1	PIGT	PIGW	PIGQ	SCARB2	ARX	PGAP3	DMXL2	PIK3CA	KCNA2	PIGO	GRIN1	YWHAG	ADGRV1	SCN9A	PIGP	SAMD12	NEUROD2	HCN1	GOSR2	SYT2	CLCN2	SYNGAP1	SLC6A1	MYO9A	SIK1	SETD1B	CPA6	PAFAH1B1	PNKP	PIGL	STARD7
HP_EEG_WITH_BURST_SUPPRESSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_BURST_SUPPRESSION	KCNA1	DPM2	DMXL2	TRIM8	SCN1B	UGDH	STXBP1	CASK	KCNC2	SLC25A46	PLPBP	ALDH7A1	NSF	PIGQ	FGF13	GRM7	DNM2	CYFIP2	ARX	KCNQ2	ALG11	PIK3CA	GRIN1	VARS2	ATP1A2	ATP6V0A1	PIGP	CDK5	NEUROD2	BRAT1	ALG14	SLC25A22	GNB1	GAD1	AKT3	CDKL5	PIGS	SCN2A	CUL3	GNAO1	ASNS	MTOR	MOGS	PRKAG2	PNPO	SIK1	ZNF148	PNKP	CNPY3
HP_EEG_WITH_PHOTOPAROXYSMAL_RESPONSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_PHOTOPAROXYSMAL_RESPONSE	GABRA1	MARCHF6	SHQ1	FBXO28	SAMD12	CERS1	STARD7
HP_DELAYED_FINE_MOTOR_DEVELOPMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_FINE_MOTOR_DEVELOPMENT	CARS1	WLS	POR	NDST1	KDM4B	CLCN3	TUBB3	TMTC3	KCNK4	GRIA1	SPTBN1	SNX14	EBF3	ITPR1	SIN3A	COL12A1	AUTS2	CDH11	TET3	MINPP1	CLP1	FIG4	DPH2	CDC40	KAT8	WASHC4	TSEN15	PI4KA	CDH2	FNIP1	FDXR	TNRC6B	APC2	TRRAP	TRAPPC6B	CLCN7	CNOT3
HP_RECEPTIVE_LANGUAGE_DELAY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECEPTIVE_LANGUAGE_DELAY	AGO2	FLCN	SH2B1	ALMS1	EHMT1	KMT2C	CNTNAP2	SPATA5	UBB	PAK1	GRHL3	FOXP2	GNB1
HP_INTELLECTUAL_DISABILITY_SEVERE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTELLECTUAL_DISABILITY_SEVERE	MEF2C	MECP2	NDUFA9	STIL	HTT	NKX2-1	SPATA5	SASS6	PRSS12	HNRNPU	TSHR	PHC1	PURA	PIGY	SMARCB1	WIPI2	ASXL3	SETD2	EHMT1	NDUFS7	PDX1	PGAP1	DPYSL5	SUCLG1	ASXL1	NSD2	TRIM8	CC2D1A	MFSD2A	SLC35A3	NDUFA13	SMARCA4	KIF14	HMGCL	COX15	L2HGDH	TBC1D23	NALCN	DYRK1A	SUOX	NDUFA2	UNC80	LARP7	SMC1A	TUSC3	POMT2	GRIN1	ARID1B	ZNF407	NAGA	TRAPPC14	GDI1	ZBTB18	NIN	NDUFA12	ADGRG1	FGFR3	ANKLE2	SCN1A	NDUFAF2	ZEB2	SATB2	VPS4A	POMT1	NKX2-5	GAMT	LARGE1	PAK1	GABRA5	PLP1	YY1	MACF1	PPP2R5D	PIGF	KCNJ6	LINGO1	C2CD3	SLC26A4	KIF7	MAN1B1	PIK3CA	LMAN2L	HNRNPK	KAT6A	AHSG	APC2	KDM5C	ARID1A	NDUFA10	UBA5	DYM	CENPJ	GRIN2A	FOXP1	PQBP1	KIF1A	BCAS3	GATAD2B	NDUFS3	NCAPD3	TMEM107	ZNHIT3	SMARCD1	CIT	DAG1	EXT2	NDUFA4	PHYH	TAF13	RAD21	SYNGAP1	DLAT	AMMECR1	LETM1	CPLX1	PAX8	CUL4B	SLC16A2	NACC1	STXBP1	KLF13	SPTBN4	PRUNE1	RTTN	GALNT2	AP4B1	FOXG1	POGZ	NDUFV1	TCF4	PTEN	PLEKHG2	UBE3B	GOT2	TBC1D20	NSD1	FCSK	SEMA6B	DNMT3A	SLC19A3	CDK6	PDHA1	COLGALT1	GMPPB	AP4S1	SLC35C1	MTOR	ATRX	NDUFS8	SLC6A17	MCPH1	CDK5RAP2	TRMT10A	ADCY5	SCN8A	CYB5R3	SETBP1	PHF6	PET100	CACNA1D	PCNA	WASF1	RAB5IF	ASPM	TIMM50	PCDH19	DCHS1	SON	KCNC2	L1CAM	PIGT	OCA2	TUBA1A	TTI2	FRMD4A	IQSEC2	SPTAN1	FKTN	CEP135	PIGO	METTL5	INPP5E	SMARCE1	SOX11	MBD5	SMARCA2	KCNH1	TMX2	AP4E1	KCNE5	HNRNPH1	NDUFS4	THOC6	ACSL4	CEP63	ACOX1	FOXE1	NDUFAF5	BCORL1	SNRPN	SLC1A2	MPDU1	TRAPPC9	NFIX	ATIC	BRD4	NDUFV2	MGAT2	KAT5	EIF2S3	PAH	ACTL6B	COG5	PEX7	CTNND2	NANS	TRAPPC10	MCM7	PYCR2	CTBP1	PPIL1	TBR1	PIGV	RAB18	STAG1	SATB1	SLC12A2	HDAC8	ACO2	SDHA	THOC2	IQSEC1	ARFGEF2	FGFRL1	PSMC1	GRIA3	PEX5	ALG14	NDE1	WDR62	PAK3	SHMT2	AKT3	TMEM231	WDR81	PEX1	ARG1	EML1	SRD5A3	SNX14	UQCRQ	OTUD6B	FRRS1L	CHRNA7	DPAGT1	MTFMT	FAT4	EEF1A2	UBE4A	CNTNAP2	UBTF	KNL1	RAB3GAP2	PPP1R15B	BRF1	FOXRED1	NEU1	TRAPPC6B	MBTPS2	KIF5C	ARHGEF9	UBE3A	FKRP	COPB2	PIGG	ALG13	MT-ATP6	TFE3	SMARCC2	PGAP2	NTRK2	NELFA	SLC9A6	GLI3	PNKP	CRBN	NDUFS2	CTSD	KCNJ11	ARX	NDUFS1	STAT3	POMGNT1	LIPT1	DMPK	CEP85L	PRMT7	RAB3GAP1	HSD17B10	TELO2	HNMT	SLC35A2	ABCC8	TSHB	TACO1	CAMK2G	LMX1B	SOX4	RAC3	AP4M1	PPP2R1A	CYB5A	PUS3	CLCN4	RPL10	TOR1A	ALG2	SMC3	AP1S2	GNB5	RFT1	CDC40	HERC1	CAMK2A	PSMB1	SNAP29	SHROOM4	GCK	KMT2B	SMOC1	ARID2	SEMA5A	FTCD	NDUFAF6	UBE2A	TMEM237	KANSL1	SLC25A15	CTNNA2	NIPBL	OPHN1	PIGW	DYNC1I2	NRXN1	PGAP3	CEP152	EPB41L1	DPF2	ERLIN2	PIGU	PDHX	INS	COPB1	RNF2	SLC13A5	SIN3A	ECHS1	OFD1	SURF1	ACAT1	CUL3	BCAP31	SOBP	GRIA1	CA2	KAT6B	PAFAH1B1	PIGL	ROGDI	FUCA1
HP_SENSORY_ATAXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SENSORY_ATAXIA	TWNK	POLG	RNF170	DNAJC3	PRX	GPI	SH3TC2	EGR2	MPZ	NAGLU	PIEZO2	FLVCR1	AARS1	PMP22
HP_T_WAVE_INVERSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_T_WAVE_INVERSION	MYL3	CLN3	JUP	PRKAG2	GYG1	MYL2
HP_CERVICAL_SPINAL_CORD_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVICAL_SPINAL_CORD_ATROPHY	GFAP	FXN	NEFL	SPG7	PI4KA
HP_TENDON_XANTHOMATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TENDON_XANTHOMATOSIS	PCSK9	PPP1R17	EPHX2	GHR	APOA2	APOE	ABCG5	CYP27A1	LDLRAP1	LDLR	APOB	APOA1	ABCG8	TTPA
HP_ABNORMAL_CIRCULATING_PROTEIN_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_PROTEIN_CONCENTRATION	FOXP3	CHCHD10	TFG	CIDEC	TNNC1	FKRP	VPS37D	VCP	ACAD9	MTMR14	ABCC9	POMT1	KIT	ZBTB20	LRP12	DES	UBA1	CPT2	STAT6	FHL2	B3GALNT2	SLC25A20	HFE	GNPTAB	ALG1	POMP	SGCG	APPL1	IFIH1	CCDC115	ACTN2	STEAP3	VMA21	PLA2G6	FHL1	IL1RN	LIMS2	TPM2	CNBP	NPHS1	SMCHD1	COX16	FTL	ATP7B	DYSF	COL6A1	CFL2	RFXANK	DAG1	ANKRD1	HNF1A	VPS33A	POLG	TWNK	COL6A2	SGCD	JAG2	TPO	MYO1E	SLC25A13	CSF2RB	PRTN3	SCN5A	TOR1AIP1	GIPC1	FDX2	ERGIC1	LMNA	POMT2	MKS1	GMPPB	NLRP12	FKBP6	XIAP	BVES	PHKA1	MGME1	HNRNPA2B1	MYPN	IL12RB1	LARGE1	ABHD5	HSPG2	RNU7-1	POMGNT1	PAX2	DMD	COL12A1	PYGM	PIK3R5	TMTC3	TTN	COL4A1	ACTN4	TDP1	IL12A	GOSR2	MPI	KCNJ11	SLC30A9	SCN4A	SLC4A1	POMGNT2	ABCC8	CAVIN1	BICD2	USB1	GATAD1	TFR2	CRPPA	COA7	DPM2	NR1H4	LAMA2	DHX16	SLC25A4	TANGO2	GCK	NGLY1	FAH	MYH7	PKLR	ATP7A	CSF2RA	MAD2L2	RFX5	FKTN	CAV3	COX20	ANO5	COG2	SRP54	INPP5K	IL37	BAG5	NEUROD1	NUP93	RHCE	PLEC	SLC40A1	SLC33A1	FARSB	TBK1	ITGA7	SGCB	FLI1	ENO3	KCNJ18	THRB	DSP	TCAP	CRYAB	SDHA	SLC7A7	COG7	CCT5	BAZ1B	BMP2	RYR1	OCRL	TK2	CCND1	DGUOK	MICU1	PIEZO2	NPHS2	INSR	PRSS1	EIF4H	NLRC4	COQ8B	HAMP	SH2D1A	NEFL	EFL1	IL10	PDSS2	CBLIF	CARD10	KLF1	CSRP3	FLNC	AGXT	CD2AP	PITRM1	SDHD	PHKG2	SLC22A5	HINT1	RBM20	DUOX2	TRAPPC11	KCNA1	SLC25A42	NLRP3	CAV1	EIF2AK3	CIITA	UNC13D	HLA-DQA1	HMOX1	ACTC1	MATR3	CAP2	POLRMT	TMEM43	CP	ANLN	TSHB	QRICH1	SLC26A4	IRF8	C19orf12	MYMK	PRSS2	EMD	PLG	HAVCR2	SYNE2	METTL27	TKFC	TAF1A	ITGB2	SGCA	CD244	TSHR	IL6	QRSL1	NEFH	SYNE1	KCNN4	NEB	PAX8	INS	ARHGDIA	IL36RN	PTPRO	UCP2	CASQ1	DNA2	UROS	HADH	TFAM	ADK	FOXI1	PMM2	PTPN22	ACADVL	PDX1	CRB2	NUP37	STX11	TICAM1	BCL7B	GPR35	SETX	NCF1	TRIP4	AFP	PNPLA2	INF2	CEL	AP5Z1	ANKFY1	PLN	AHCY	PDK3	WDR73	CHKB	DNAJB6	SLC34A1	RASA1	ERCC4	TIA1	PIGN	POMK	MSTO1	DMGDH	AGL	ALG6	BMP6	HNRNPA1	KLHL41	ITGB4	CACNA1S	SYNJ1	DUX4	MPZ	GAA	CD55	B4GALT1	SGPL1	ALG2	C1QBP	OSGEP	BMPR1A	HLA-DQB1	AASS	RILPL1	G6PD	ATP5F1D	DSG2	TRAPPC2L	RHAG	FGFR3	ABCA1	DGAT1	SERPINA1	SBDS	KLF11	ALDOA	MT-TL2	FOCAD	NFKBIL1	LAMA1	GATC	BUD23	NFS1	GNE	TMPRSS6	GFER	PYROXD1	COL6A3	STIM1	DPAGT1	PLCE1	DPM1	IGFALS	MYOT	MICOS13	PIGA	SUGCT	MMEL1	VCL	LIPE	RNF168	PAPPA2	MEFV	ALG8	TTC26	SCYL2	DEF6	ATP6V0A2	SQSTM1	ZNFX1	ADA2	ARPC1B	HAND2	COPA	TNFRSF1A	LDB3	SUCLA2	NUP133	RAF1	TRMU	BCS1L	WDR4	C2orf69	GATB	DPM3	MYL2	IFNGR1	PRF1	ACTA1	CNOT1	B4GAT1	NARS2	ATP6V1A	RRM2B	CASR	PLEKHG5	RAG1	SPIB	FAM111B	TIMM22	TNNT2	SLC2A1	WT1	SUOX	MT-TN	KBTBD13	BLK	MLXIPL	IYD	NSUN2	MAGI2	TMPO	FRG1	SLC25A38	XK	LTBP4	NUP205	HLA-DPB1	CPA1	SERPINE1	DUOXA2	POLG2	SKIC3	CAPN3	DOK7	HNRNPDL	FARSA	LACC1	AP1B1	CTNNB1	RNASEH1	TRPC6	MTTP	CLIP2	BAG3	GYG1	ALB	TMEM165	MT-TE	TPM1	RXYLT1	IL6R	MYH14	POU2AF1	PUS1	ADSS1	NOS1AP	AP1S1	STXBP2	MPV17	PRUNE1	ISCU	COQ2	TNNI3	PRDM16	TG	KLHL9	HLA-DRB1	CPOX	KRT5	PGAM2	ALG12	COL9A3	HBB	KCNE3	LPIN1	PIGY	CTRC	FN1	TCF4	TRAF3	ITK	MT-TL1	CPT1A	TMPRSS15	HJV	KIF23	ELN	SVIL	RAG2	AMACR	SLC30A10	SLC4A4	LPL	GGPS1	ATM	APTX	POGLUT1	IFNG	SQOR	SIL1	MLIP	CRLF1	PPCS	STK11	NUP107	TTR	BSCL2	APOA1	MCM10	COL25A1	KLKB1	LAMA4	LAMB2	PLVAP	LYST	DNM2	HLA-DPA1	PSEN1	TF	MPDU1	PET100	UNC93B1	KRT14	ABCG8	HNF4A	RHD	ITGA3	FOS	MYO5B	PHKA2	RFXAP	KCNJ10	MT-CO3	TRIM32	TBC1D8B	TRPV4	TRHR	COL7A1	PABPN1	GTF2IRD1	NPPA	DCXR	APOC2	UQCRFS1	PAX4	VPS13A	HEXB	SLC34A2	CTLA4	KY	NOS1	SAR1B	ACADM	MIEF2	CFTR	EMP2	FKBP14	GAPVD1	MYH6	STING1	DHCR7	PSMB8	APOL1	SYK	SLC19A1	TBCD	PPARG	AIFM1	PRPS1	DNMT3B	RFC2	COG8	SLCO2A1	RBCK1	TBL2	GTF2I	MYBPC3	MET	NOTCH2NLC	TNPO3	SLC22A4	CCBE1	PIEZO1	ISCA1	AR	TNFSF15	BIN1	EPG5	HHAT	TXNRD2	STX1A	STAT2	PIK3CG	B2M	DNAJC30	GFPT1	ATP6V1E1	TSFM	ELF4	SLC39A14	TLR3	PRKCD	GNPTG	SLC35A2	FTH1	PEX6	SPINK1	COL4A3	DOLK	TMEM199	BCL10	FLAD1	POPDC3	KIF12	NLRP1	DCLRE1C	NEXN	GATA1	COG6	IL6ST	PTEN	IRF5	SLC5A5	TAFAZZIN	LDHA	PSEN2	CASK	MST1	GLRX5	HADHA	NUP85	UBR1	MYF6	MVK	NAB2	SLC16A1	PLXNA1	DNAJC21	TPM3	GTF2IRD2	LIMK1	LAMP2	PSTPIP1	OTULIN	LMOD3	ANXA11	MIF	TMEM270	SEMA4D	PGM1	PHKB	OTUD5	ALG14	NUP160	ORAI1	SLC34A3	SMAD4	HADHB	CA2	AGPAT2	ARHGAP24	MT-CO1	GABRA3	DAAM2	PKD2
HP_INCREASED_NUCHAL_TRANSLUCENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_NUCHAL_TRANSLUCENCY	BRD4	HNRNPK	DNAJC30	RAD21	STAG1	BCL7B	LZTR1	MLXIPL	ODC1	VPS37D	BUB3	CSGALNACT1	NCF1	TXNDC15	TRIP13	CEP57	LBR	FGFR3	FIG4	EIF4H	NIPBL	GTF2IRD2	LIMK1	FKBP6	DHPS	METTL27	RFC2	TBL2	DOHH	TMEM270	HDAC8	DHCR7	ATN1	GTF2I	GPC6	BMPER	SMC3	GTF2IRD1	TRIP11	BUB1B	BUD23	CLIP2	ADARB1	PIGN	SMC1A	MYL11	VAC14	BUB1	STX1A	BAZ1B	ELN
HP_ABNORMALITY_OF_THE_UMBILICAL_CORD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_UMBILICAL_CORD	CCDC22	STAG1	F13A1	FANCB	HSPG2	GATA6	MYH7	FOXF1	QRICH1	ZNF699	LMNA	GNB2	ADGRG6	PIGW	PIGY	F13B	PACS1	WASHC5	MKS1	PGAP3	MCTP2	WT1	PAK2	MYD88	SMARCD2	PIGV	SERPINE1	ITGB2	PIGO	F7	RBCK1	DDX6	RAC2	WNT3	TLK2	SPECC1L	POR	FANCF	MUSK	NRAS	SCARF2	TAPT1	IL6ST	G6PC3	ZMPSTE24	SLC30A9	CLPB	PHGDH	PGAP2	HOXD13	DPF2	FCGR3B	PIGL	TWIST2
HP_AVASCULAR_NECROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AVASCULAR_NECROSIS	TRPV4	DVL1	ARSB	COL2A1	TREX1	IL10	UFSP2	SRCAP	PTPN11	HLA-B	ACAN	ADAMTS2	WRAP53	TLR4	TERT	HBB	SLCO2A1	KRAS	C4A	DVL3	FZD2	IL12A	NEK9	STAT4	TP53	CREBBP	IL23R	ACTB	DKC1	HPGD	WNT5A	ADAMTSL2	TONSL	MEFV	FGFR1	BRAF	COL1A2	NHP2	ORC1	FN1	GBA1	NR3C1	EXT1	NOP10	PARN	ZMPSTE24	TRPS1	IL6ST	TINF2	COMP	MATN3	UNC45A	RTEL1	ACTG1	TYMS	ERAP1	PHF6	RAB3GAP2	SMAD3	ATRX	CCR1	USP8	SIL1	NTRK1	COL1A1	IFNGR1	SH3PXD2B	DYRK1A	KLRC4	USB1	CTC1	SKIC3	CLCN7	NPM1	INPP5K	ELP1	UBAC2	SLC2A10	CDH23	SCARB2	LMX1B	COL9A2	USP48	IL12A-AS1	LMNA	FAS	ATP7A	MAN2B1	EP300	TERC
HP_OSTEOCHONDRITIS_DISSECANS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOCHONDRITIS_DISSECANS	ORC1	ACAN	SMAD3	LMX1B	COL9A2
HP_ABNORMAL_CIRCULATING_BRANCHED_CHAIN_AMINO_ACID_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_BRANCHED_CHAIN_AMINO_ACID_CONCENTRATION	PPM1K	MICU1	BCKDK	MCCC2	DLD	DBT	BCAT2	BCKDHB	MCCC1	BCKDHA
HP_ABNORMAL_CIRCULATING_PHENYLALANINE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_PHENYLALANINE_CONCENTRATION	QDPR	GCH1	IMPDH2	PCBD1	FTCD	NR4A2	PTS	PAH	SPR
HP_ABNORMAL_CIRCULATING_SERINE_FAMILY_AMINO_ACID_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_SERINE_FAMILY_AMINO_ACID_CONCENTRATION	GLRX5	PSAT1	PHGDH	GCSH	SLC25A13	GLYCTK	SLC30A10	GLDC	BOLA3	PCCA	IRF6	PET117	MMAB	MMAA	NFS1	SARDH	MMUT	SLC7A7	PCCB	ALDH4A1	PNPO	AMT	NFU1	PSPH	SUCLG1	COX8A
HP_ABNORMAL_CIRCULATING_GLYCINE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_GLYCINE_CONCENTRATION	GLRX5	PSAT1	PHGDH	GCSH	GLYCTK	SLC30A10	GLDC	BOLA3	PCCA	IRF6	PET117	MMAB	MMAA	NFS1	MMUT	SLC7A7	PCCB	ALDH4A1	PNPO	AMT	NFU1	SUCLG1	COX8A
HP_ABNORMAL_CIRCULATING_ASPARTATE_FAMILY_AMINO_ACID_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_ASPARTATE_FAMILY_AMINO_ACID_CONCENTRATION	MAT1A	MTRR	CBS	MMACHC	MTR	AASS	ABCD4	SLC25A13	FAH	GUCY2D	MICU1	PRDX1	NADK2	ADK	MMADHC	PNPO	AHCY	MTHFR	GNMT	SKIC3
HP_ABNORMAL_CIRCULATING_METHIONINE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_METHIONINE_CONCENTRATION	MAT1A	MTRR	CBS	MMACHC	MTR	ADK	ABCD4	SLC25A13	FAH	PRDX1	MMADHC	AHCY	MTHFR	GNMT	SKIC3
HP_ABNORMAL_CIRCULATING_GLUTAMINE_FAMILY_AMINO_ACID_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_GLUTAMINE_FAMILY_AMINO_ACID_CONCENTRATION	COX10	MDH1	GLUL	LIPT1	CPS1	COX5A	NAGS	ASS1	NDUFC2	PRODH	SLC25A13	GLS	COX16	TNFRSF11B	PDP1	ASL	TALDO1	NDUFB10	TARS2	SLC7A7	ALDH4A1	OTC	PNPO	ARG1
HP_ABNORMAL_CIRCULATING_GLUTAMINE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_GLUTAMINE_CONCENTRATION	GLUL	LIPT1	SLC7A7	NAGS	GLS	ASS1	OTC	ASL	TALDO1	COX16	SLC25A13
HP_ABNORMAL_CIRCULATING_PROLINE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_PROLINE_CONCENTRATION	PDP1	COX10	LIPT1	COX5A	NDUFC2	PRODH	NDUFB10	TARS2	SLC7A7	ALDH4A1	COX16	TNFRSF11B
HP_ABNORMAL_CIRCULATING_ARGININE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_ARGININE_CONCENTRATION	CPS1	ASS1	PNPO	ARG1	ASL	SLC25A13
HP_ABNORMAL_CIRCULATING_PYRUVATE_FAMILY_AMINO_ACID_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_PYRUVATE_FAMILY_AMINO_ACID_CONCENTRATION	COX5A	NAGS	NDUFC2	TMEM70	MT-ND2	SLC25A13	FBXL4	PC	MICOS13	NGLY1	PDHA1	NDUFA13	DTYMK	MT-TW	MT-ND1	KARS1	FBP1	TYMP	TRMT10C	POLG	NDUFB10	MT-TL1	COQ9	PNPLA8	MIPEP	MTO1	MT-ND5	MT-ND6	MT-ND3	COX8A	VARS2	COX6B1	PDHX	MT-ATP6	COX10	RRM2B	NDUFS4	MRPS2	MT-ND4	FOCAD	LIG3	UQCRC2	SCO1	DNM1L	COX16	LIPT2	PDP1	SLC25A4	NFS1	MT-TV	TMEM126B	ATP5F1A	CA5A	MT-TK	TARS2	SLC7A7	LYRM7	MRPS14	ALDH4A1	MRPL3
HP_ABNORMAL_CIRCULATING_TYROSINE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_TYROSINE_CONCENTRATION	FAH	HPD	PNPO	TAT	BCS1L	SLC25A13
HP_ABNORMAL_CIRCULATING_HOMOCYSTEINE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_HOMOCYSTEINE_CONCENTRATION	MTRR	SLC19A1	CBS	MMACHC	MTR	LMBRD1	ABCD4	MTHFR	MTHFD1	PRDX1	MMADHC	CD320	NFE2L2	AHCY
HP_ZONULAR_CATARACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ZONULAR_CATARACT	BEST1	SEC23A	IMPG2	GJA5	BAP1	OPA3	CFAP410	CRYGB	VIM	GNAQ	GJA8	MVK	PRG4	MAF	PANK4	LIM2	SF3B1	PAK2	CRYBB1	OCRL	KIAA1549	CHMP4B	CLPB	CRYBB3	NF2	COL18A1	WFS1	GNA11	FYCO1	GALK1	SLC2A1	NHS	CRYBA4	CRYBB2	HSF4	RECQL4	GJA3	CRYBA1	FTL	RTN4IP1	CYSLTR2	MIP	BFSP1	ACADS	CRYGC	GJA1
HP_ABNORMAL_BLOOD_INORGANIC_CATION_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_INORGANIC_CATION_CONCENTRATION	FOXP3	SDHB	CYP3A4	VPS37D	CYP27B1	IFT122	SDHD	POLRMT	VHL	USP53	PDGFRB	SLC34A1	CLDN16	CSF1R	CCBE1	ADAMTS3	DNMT3A	SETD2	CASR	MT-CO3	FAT4	MAX	METTL27	CDKN1B	RET	TCIRG1	ELN	GNA11	TBX1	CLCNKA	CTNS	STX16	PREPL	FAM111A	GP1BB	FH	SLC39A8	DBH	GTF2IRD1	HLA-DRB1	RREB1	OSTM1	PTH	KCNJ1	CAMKMT	PCBD1	DGCR6	EGF	CACNA1C	ACADVL	CDKN2B	TIAM1	ALPL	ALG12	HLA-DQB1	SLC3A1	BCL7B	MLXIPL	SLC4A1	NCF1	SLC30A10	TBCE	CLDN10	PRKAR1A	GCM2	SLC39A14	UBR1	GNAS	SARS2	FKBP6	SLC12A1	RFC2	CLCNKB	TBL2	GEMIN4	APC2	NF1	KIF1B	GTF2I	CDC73	CHD7	CNNM2	PIK3C2A	CLIP2	SDHA	CDKN2C	RYR1	TRPM6	STX1A	CYP2R1	VDR	GNAS-AS1	DNAJC30	CLDN19	ESS2	DGCR2	TNFSF11	KCNJ10	PTH1R	PPM1B	SLC12A3	TMEM127	GNB2	HIRA	BTK	MDH2	MEN1	TNFRSF11A	FARSB	NSD1	ARVCF	DGCR8	FOCAD	SDHC	KCNJ18	CACNA1S	SLC25A11	EPAS1	LPIN1	CLCN7	BUD23	PDE4D	CYP24A1	AP2S1	GATA3	COMT	BAZ1B	RMRP	HLA-DQA1	LDHA	CCND1	ALDOB	SEC24C	NOTCH3	KL	SLC5A1	CAV1	SNX10	BSND	EIF4H	PIGT	GTF2IRD2	LIMK1	FXYD2	CDKN1A	CDKN1C	HADHB	TMEM270	PLVAP	ATP1A1	JMJD1C	HADHA	ORAI1	BTNL2	TRIO	FGF23	CA2	UFD1	DLST	MT-CO1	SDHAF2	GABRA3
HP_ABNORMAL_BLOOD_MONOVALENT_INORGANIC_CATION_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_MONOVALENT_INORGANIC_CATION_CONCENTRATION	SLC4A1	NR3C1	CYP11B1	CYP11A1	CACNA1S	NUP214	WNK1	KCNJ10	SCNN1B	ZNRF3	COL3A1	SLC12A3	PRKAR1A	CLCNKB	CYP11B2	SCNN1A	CAV3	TSFM	CALM2	PRF1	TERT	AVPR2	ALAD	TLR3	GATM	SCNN1G	BMPR1A	SLC2A2	TBX19	MT-CO3	MRAP	ALG12	DZIP1L	MAGED2	CLCNKA	CTNS	NOS1AP	SAMD9	ALDOA	TBK1	TDP2	SLC2A1	CUL3	PBX1	AQP2	SCN10A	INSR	FOCAD	KCNJ5	KCNN4	KCNJ18	NNT	TP53	BSND	KCNE3	LPIN1	SCN4A	TRAF3	KCNJ1	CALM3	IRF4	ATP6V0A4	STAR	SLC34A1	UNC45A	PPOX	CTNNB1	HSD3B2	KCNJ2	POR	RYR1	KCNQ1	HSD11B2	PAX2	TICAM1	WNK4	KCNE1	NDUFAF6	CACNA1D	CA12	NR3C2	HMBS	SLC4A4	CALM1	CLDN10	SLC5A1	SYK	CPOX	TXNRD2	DEF6	KCNE2	SARS2	CDKN2A	FXYD2	SLC12A1	CASR	KLHL3	SCN4B	FGFR1	NR0B1	AKAP9	GEMIN4	NFKB2	ANK2	OCRL	PLVAP	LYST	SNTA1	ATP1A1	CACNA1C	MC2R	EHHADH	TBX5	TRDN	CLCN2	ELP1	SLC30A9	PIEZO1	SERPINA6	PKHD1	ALG8	SMAD4	ABCB6	CDH23	DSG1	UNC93B1	CYP17A1	AIP	USP8	SCN5A	SLC26A3	KCNH2	EIF2AK3	MT-CO1	ARNT2	INVS	GABRA3	PKD2
HP_ABNORMAL_BLOOD_SODIUM_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_SODIUM_CONCENTRATION	PAX2	TICAM1	CYP11A1	CA12	NR3C2	NUP214	HMBS	SCNN1G	SCNN1A	SLC5A1	CYP11B2	BSND	TSFM	SYK	PRF1	AVPR2	ALAD	CTNS	TLR3	CPOX	TXNRD2	SARS2	TBX19	FGFR1	NR0B1	MRAP	ALG12	DZIP1L	MAGED2	CLCNKB	GEMIN4	CLCNKA	NFKB2	SAMD9	OCRL	SCN4A	PLVAP	TBK1	LYST	TDP2	PBX1	AQP2	FOCAD	MC2R	NNT	ELP1	TRAF3	SCNN1B	IRF4	STAR	PKHD1	ALG8	DSG1	PPOX	UNC93B1	SLC26A3	HSD3B2	POR	EIF2AK3	ARNT2
HP_ABNORMAL_CIRCULATING_NUCLEOBASE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_NUCLEOBASE_CONCENTRATION	PNP	HPRT1	ALDOB	SH2B1	NDUFAF6	ALMS1	SLC2A9	GPHN	MOCOS	PFKM	TYMP	CLDN16	CTNS	GATM	PRPS1	FBP1	SLC2A2	SARS2	PPARG	G6PC1	REN	SLC37A4	LMAN1	MUC1	MYC	DPYS	EHHADH	UMOD	SLC22A12	HMGCL	HNF4A	TNFRSF11A	ATP7B	MCFD2	TNFRSF11B	PHKA2	POLG	PYGM	SEC61A1	ACAT1	SLC34A1	MOCS1	HNF1B	XDH	MOCS2	PHKB	OTC
HP_ABNORMALITY_OF_THE_LOWER_URINARY_TRACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_LOWER_URINARY_TRACT	DEPDC5	CHRM3	MKKS	SEMA3E	VPS37D	VCP	HS6ST2	MTMR14	CUL4B	PI4KA	FUZ	RPGRIP1	GPC4	SNCA	LTBP4	ZNF699	HYLS1	B9D2	STAT6	PITX2	SMARCB1	NEFL	SPG11	TERT	NDUFB11	FRAS1	PTPN11	RTN2	SETD2	EHMT1	ALDH18A1	NIPA1	LMOD3	FMR1	FZD2	CDT1	ATXN8OS	SPOP	NSD2	ACTG2	COL7A1	SIX1	GP1BB	CYP17A1	ADA2	AVPR2	SRY	SMARCA2	TAPT1	DBH	RPS28	TTC8	ITGA6	ZEB2	CCDC8	OBSL1	NR5A1	STAMBP	UBA1	ARID1B	POLG	PALB2	HNF1B	TRAPPC14	DSE	ANKLE2	RPS29	CREBBP	POLR3A	CDC6	BRCA2	SMCHD1	CHMP2B	RPL35A	CPT1C	TRPS1	HLA-DQB1	PIGN	PSMD12	WNT4	FGFR3	UPB1	TBX22	CABP4	ERCC8	FGF10	RIN2	SCUBE3	WT1	MKS1	FKBP6	KIF7	GREB1L	NCAPG2	FGFR1	HNRNPA2B1	DPH5	RAC2	CSPP1	ARID1A	MAD2L2	DDHD2	EBF3	GNB1	MACF1	DCDC2	BRIP1	LIG3	COLEC11	TRRAP	EYA1	DNMT1	IGHMBP2	RAD21	GNA11	VPS35	LETM1	SLC25A4	DLL3	DLG3	FOXF1	ERMARD	PAK2	SLC12A3	KDM6A	SCN9A	GABRD	ARSA	PTDSS1	GALNT2	RPL26	HSD3B2	NR0B1	TCTN3	ITGB4	COL3A1	DNAJC13	SALL1	MYO1H	MYH11	SAMD9	KLHL41	PLEC	PAX6	NR4A2	COG5	ABCD1	GATA4	FLNA	HTRA1	GRB10	CACNA1G	KCNJ18	CDH11	GPC3	CISD2	FANCI	PAH	SPAST	GJC2	SP110	ATXN10	ATXN1	WDR35	HEXB	ALS2	MCPH1	GATA3	DHX37	COG7	VAC14	ASXL1	BAZ1B	RPS15A	DARS2	CCDC22	DVL3	PAX2	MAPT	CCND1	SLC35A2	NPHP3	ZMIZ1	SEC24C	NOTCH2	UBAP1	TIMM50	SDHAF1	PEX16	VANGL1	EIF4H	SHANK3	SLC2A1	H4C11	MFSD2A	CRH	PEX3	MCTP2	MAPRE2	AR	AUH	DYRK1A	ZIC3	KLF1	PSPH	SOX11	AGXT	CARS1	PDGFRB	IGF2	SRCAP	SDHD	SPART	NFIA	GBA1	HNRNPH1	PDCD1	MED25	CEP63	VANGL2	FLT4	COL5A1	CCNQ	PMP22	FDFT1	TRIO	FLVCR1	FANCC	STRA6	ARNT2	ATP7A	GBE1	NDUFA8	RPGRIP1L	PRKACB	BRD4	GRIP1	SH2B1	HBA1	KAT5	HPDL	FA2H	POLRMT	SACS	LSS	TBXT	STAT1	KIF5A	NAA10	TNXB	HMGA2	KIFBP	GLI3	MAP3K7	TCTN2	TRAPPC10	ERCC6	CTBP1	SSR4	GATA1	METTL27	DPH1	TBX1	PSAP	ORC6	COQ2	TGFB1	NDUFS4	AQP2	WNT5A	FGFRL1	NDUFB7	TONSL	COL1A2	HCCS	LMOD1	G6PC3	GABRG2	FBLN5	GLUD2	IFT80	TP63	NRIP1	FBXO7	CHD4	CPLX1	PEX1	ATP1A3	PDGFB	JAG1	WNT7A	RETREG1	FAT4	PAICS	PEX6	BCL7B	MPZ	SMAD3	MTFMT	NOTCH2NLC	MAPKAPK5	PEX19	HLA-B	NCF1	HOXA13	RPL10	SBF1	EFEMP2	AP5Z1	BCOR	TBP	RERE	FITM2	EN1	SIN3A	FUS	ATXN2	TMEM216	ARCN1	RAC1	CC2D2A	MED27	USB1	PEX13	HACE1	CLN3	COPB2	OGT	MED12	RASA1	DKC1	TUBB	PIGG	SMG8	MLXIPL	B9D1	CHRNA2	COL1A1	SMARCC2	SOX9	GMNN	BICRA	RPL18	PQBP1	XRCC2	SLC9A6	RPL31	HNRNPK	NSUN2	DVL1	ELN	ATRX	GAA	HMBS	SIX5	KMT2D	SETX	LAMB3	HSPD1	DNAJC19	ERLIN2	PEX11B	CEP85L	PRMT7	ACER3	HIRA	ZFYVE26	REEP1	HSD17B10	RYR1	DYSF	MAP3K1	PRKCZ	SETBP1	SDHB	CLMP	PEX12	SLC1A4	PLD1	SOX4	VAMP7	EVC2	SPG7	FOXC1	POR	CEP152	PNPT1	CFAP43	WASHC5	DNMT3A	ARVCF	KCND3	FOCAD	PUF60	COG1	B4GALNT1	FANCF	SETD5	FGFR2	FRMD5	GLI1	DCHS1	HNRNPA1	BUD23	NEXMIF	PEX2	KMT2B	JRK	TMEM63A	TYMS	SOX17	MAP2K1	RPS20	GALC	CDKN1C	PPP1R12A	MYL9	WFS1	FAR1	SIX6	VPS11	UBE2A	MMP1	FANCM	DMPK	RNF168	UBE4B	FERMT1	DACT1	SDHA	PIGA	RPS17	TTR	DPF2	ARX	DSTYK	MAMLD1	LAMA3	JMJD1C	RIPPLY2	CAPN1	FANCE	FANCG	TYROBP	EFNB1	CHST14	PEX26	PRDM8	TBCK	CHRNA3	HPSE2	CYP11A1	MYLK	SMARCE1	MECP2	SLC20A2	FANCB	POLA1	STIL	FBXL4	CUL7	HAAO	SASS6	HES7	KIAA0753	UBE2T	HNRNPU	CASZ1	PHC1	MYOCD	PPP3CA	ZFPM2	ORC1	DYNC2I1	RPS24	BNC2	MORC2	ATL1	SYNE1	RRM2B	TRIM8	DHCR7	HSPG2	MNX1	RPS27	PBX1	SMARCA4	KIF14	SMO	LIG4	EIF2AK1	EXT1	ZMPSTE24	WWOX	GJA1	RREB1	SRD5A2	PARN	SMC1A	LRRK2	KDM5B	TINF2	TCTN1	ORC4	FREM2	MED12L	ALG12	CDCA7	USP9X	DYNC2H1	KPNA3	KMT2C	STAR	CHRNG	ATP13A2	HSPA9	GABRB3	CEP290	PLA2G6	SPTLC1	ISL1	BAP1	TRAPPC12	PRDM16	FARS2	C2CD3	IKZF1	KIAA0586	RAD51C	CTC1	PCNT	SKIC3	APC2	NF2	PDPN	CENPJ	CDC42	RAF1	NPM1	FANCA	ATR	PIGO	MTM1	GATAD2B	PDE4D	LMNB1	CLIP2	EPHB4	FIG4	KANSL1	NCAPD3	MESP2	PLP1	RFWD3	SMARCD1	MID1	CIT	GBA2	TAF13	PRKAR1B	SYNGAP1	DMRT3	KRAS	KCNJ10	SPTBN1	ADH1C	CACNA1H	EXT2	RTTN	CHD7	CARMIL2	GNB2	CDC45	BDNF	WRAP53	COLEC10	PNPLA6	CYB5A	BRCA1	CLCNKB	TMEM67	NSD1	MARS2	SMS	CDK6	KCNT1	STUB1	PEX5	GIGYF2	CCL2	APRT	PANK2	RPS19	B3GLCT	UNC45A	MMP23B	PPOX	CDK5RAP2	EIF4G1	COMT	RSRC1	BPTF	REEP2	AFF4	RARB	FAM20A	EP300	NOTCH3	BICC1	HLA-DRB1	ASPM	IFT57	TRAF7	PKP1	COX7B	HUWE1	ERCC4	SALL4	C19orf12	HBA2	CEP135	RNF125	BRAF	LFNG	RLIM	NR2F2	NDUFA6	DNM2	ATXN3	GFAP	FOXP1	SIGMAR1	THOC6	GPR101	CILK1	KDM3B	RPS7	KCNQ1OT1	POLE	HPRT1	TERC	ADAT3	FXN	KIF1A	MYMX	SLC44A1	TXNDC15	LMNA	RPS26	RNF170	CHRNA4	MCM7	LTBP1	RNU12	PYCR2	TMEM107	SPEN	ATP6AP2	MT-TT	SLC5A2	KLHL40	SKI	KCNC3	WNT3	HDAC8	RSPO1	MTOR	MYRF	AIP	NHP2	GTF2IRD1	H4C9	NOP10	MBTPS2	DKK1	KDM1A	CLCN6	TWNK	TMEM94	RPL15	LRIG2	PRPS1	SNCAIP	RPL11	RTEL1	MYCN	PIGQ	KY	PLOD1	TMEM70	MAB21L2	CHRNB2	ELOVL1	RPL27	MYMK	SLC25A10	KNL1	PRKAR1A	PINK1	ZC4H2	TBCD	LUZP1	AKT1	UBR1	NEB	TMEM237	TRPV4	RFC2	ABL1	FANCD2	RPS10	RBCK1	PRNP	CHCHD10	DDX6	TBL2	SMAD4	SLC25A13	GTF2I	DYNC2I2	KCNAB2	CCBE1	RALGAPA1	SIAH1	ZMYM2	HSD17B3	WDR62	TFAP2A	BIN1	NELFA	EPG5	KCNQ1	EVC	STX1A	RPL5	DNAJC30	ESCO2	FKBP14	ALMS1	CDC42BPB	EIF2AK2	COL5A2	NIPBL	COL18A1	PIK3CA	KARS1	GABRA1	ACTA1	PLAG1	RECQL4	PIK3R5	SUCLG1	RBM8A	TSR2	SOX2	CACNA1S	SMC3	PEX10	HOGA1	NBN	SF3B2	ROBO2	PIEZO2	TMEM231	ARL6IP6	ARID2	CAMK2B	PEX14	LAMC2	MYF6	SUFU	SLX4	NAB2	SQSTM1	ANKRD11	PLXNA1	NKX2-1	TCF12	GTF2IRD2	LIMK1	FANCL	RBBP8	TOM1	TMEM270	COPB1	METTL5	RPL35	POLG2	OTUD5	DYNC2LI1	STK11	ALG9	HOXD13	ADNP	CYP7B1	RAD51	KAT6B	UFD1	BUB1B	PRKACA	GABRA3	CYP21A2
HP_ABNORMAL_NASAL_SKELETON_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NASAL_SKELETON_MORPHOLOGY	TGIF1	SLC25A24	CTNNB1	ALX4	PPP1R12A	USH1G	BRAF	PDE4D	TONSL	SIX3	PTCH1	UBA1	PRKAR1A
HP_ABNORMAL_EXTERNAL_NOSE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EXTERNAL_NOSE_MORPHOLOGY	MGP	MN1	ZIC2	ODC1	RGR	IL11RA	CTCF	CUL4B	SPATA5	IDH3A	HS2ST1	RARB	PLCH1	PRPF4	CPLANE1	HECW2	PDHA1	ALX1	ZBTB20	RPGRIP1	LMNA	GPC4	LBR	TGIF1	ZNF699	B9D2	EP300	PURA	RNASEH2C	PIGY	KCNJ6	SMARCB1	RNU4ATAC	ASXL3	NODAL	FRAS1	SALL4	EHMT1	GNPTAB	PRKAR1A	FZD2	SLC7A14	BRCC3	MEGF8	SIX3	SPOP	PCARE	EDEM3	VPS51	MITF	ZMPSTE24	PEX10	TCTN3	GP1BB	DISP1	WDR26	KCNN3	ATP6V1E1	SLC25A46	TAPT1	ZEB2	ANKRD11	WAC	CCDC8	DYRK1A	TMEM237	DLL1	OBSL1	PQBP1	PCNT	SKI	RBM10	UNC80	PTPRF	CSPP1	HNRNPR	TAF1	NFIX	ARID1B	HOXB1	FGF20	KCNJ2	AP2M1	COL1A2	RNASEH2B	HK1	CREBBP	POLR3A	TOPORS	H3-3B	ARL3	DVL1	RPS6KA3	TRPS1	TRIP13	CHN1	PIGN	RUSC2	RP2	TMEM218	KIF11	STAG2	PIGQ	TCF20	APC	LONP1	PTH1R	EDARADD	C12orf57	IGF1	CC2D2A	CRB1	FLII	KATNB1	TUBGCP2	HSPG2	ARID1A	MKS1	BAP1	TRIO	ATN1	SMARCAL1	EBF3	FGF8	KIF1A	RAI1	COL11A2	ATP6V1A	NEK9	EIF2S3	CDON	POU4F1	SUFU	LTBP3	GLI2	CLP1	PIK3R1	SUPT16H	COLEC11	USB1	SPEN	TRRAP	SCYL2	MAFB	SIK1	EXT2	NR2E3	SATB2	PPP1CB	FTO	RAD21	PCGF2	LETM1	FGFR1	MYCN	EXOSC2	GPAA1	DLL3	CAMTA1	NGLY1	TULP1	ABCC9	SNRNP200	SPRTN	KDM6A	GABRD	CHD2	RET	STXBP1	ZBTB24	EDA2R	LAS1L	ADNP	KCTD1	RIPK4	GRM7	HDAC4	HNRNPK	DDB2	COL3A1	PAFAH1B1	SEMA4A	KMT2D	CTNNB1	ATP6V1B2	FOXG1	FRMD4A	PDE6A	SYT1	ERCC2	TCF4	UBE3B	HIC1	EFTUD2	FGFR3	ACTB	MADD	ZNF423	NRL	WNT5A	CDH11	GPC3	CDKL5	USH2A	KIF15	PAH	TBCE	LSM11	PRMT7	VPS13B	MAPK8IP3	TRMT10A	VAC14	ASXL1	PRKACA	DVL3	BEST1	IFT122	PEX5	ZMIZ1	SEC24C	ALX4	PEX6	OTX2	NOTCH2	ATAD3A	KNL1	RPGRIP1L	IMPDH1	MICU1	KCNJ11	MAN2B1	FLI1	PRPF8	FOXH1	WRN	PGAP3	SHANK3	CKAP2L	GLB1	GBA1	SMC1A	SHH	TCTN2	MCTP2	TMEM53	RHOA	NXN	GJA8	PIGO	PAM16	METTL5	SOX11	AHI1	ZNF462	KIZ	FAM149B1	KCNH1	SRCAP	AP4E1	NFIA	PEX1	RUNX2	TRIP11	HRAS	HNRNPH1	PDE6B	WASHC4	FLCN	ACSL4	PEPD	SOX10	IFT140	PTF1A	PKHD1	CCNQ	SYNGAP1	MAK	ERCC5	BUB1	NRAS	POMGNT1	PHIP	PLEC	CNOT3	VPS35L	BRD4	PPM1D	GRIP1	CERKL	KATNIP	MGAT2	KAT5	CPSF3	STIL	COL2A1	FGFR2	FAM161A	POLRMT	SHOC2	CENPT	QRICH1	GUCA1B	KCNJ5	MYMK	KMT5B	MAP3K7	MEG3	CSF1R	XRCC4	BCOR	CTBP1	SOST	INPP5E	MBD5	XYLT1	TBX1	KMT2B	ARMC9	FBN1	AP4B1	FGF3	INPPL1	PHF21A	GREB1L	POLD1	FGFRL1	TONSL	SMOC1	CCDC47	WDR62	H4C3	EDA	SLC25A22	ABCA5	CPT2	PAK3	BUB1B	TMEM231	PAX1	SMPD4	GNAO1	PRPF3	RBP3	DGCR6	FANCL	DDX3X	KRAS	PMM2	LEMD2	PDE6G	JAG1	MAP2K2	SIX2	TBC1D20	LMBR1	FH	CHMP1A	PAICS	IFT172	TRAIP	ABCA4	PPP1R21	MAPKAPK5	DOCK3	MYH3	CRKL	FBXO31	RAB3GAP2	PPP1R15B	RP9	SLC6A9	COL11A1	RERE	DLX4	PIGV	PTPN11	ARX	OFD1	TMEM216	CPLX1	RAC1	WDR19	MED27	KDM1A	COG6	RECQL4	KAT6B	TMCO1	ERF	TGFB3	SMARCC2	WDR73	PROM1	MUSK	HDAC8	PAX7	SNX14	GPC6	BMPER	SMG8	DONSON	ALG13	MLXIPL	ERCC4	TUBGCP6	B9D1	ABCC8	DOCK6	PTCH1	BPTF	MARS2	TSPEAR	PEX11B	PHGDH	THOC6	BICRA	MAPK1	CHD5	CEP55	SUZ12	AGL	TMEM67	CIT	CENPE	ROR2	SLC26A2	TBC1D24	ADSL	TBX2	DGCR2	SCN1B	ATRX	NOG	TBX6	NOVA2	CNGA1	SNRPN	RNASEH2A	FAM20C	TWIST2	RAB3GAP1	KPTN	HIRA	CAPN15	PPP2CA	RPS19	GLI3	TFAP2B	PRKCZ	SETBP1	BRAF	PROP1	TOGARAM1	HDAC6	SETD5	TAF6	ALDH6A1	PPP2R1A	SOX4	MYO18B	NSRP1	NUP85	BRCA1	PRCD	DLK1	H3-3A	TWIST1	POR	CEP152	DNMT3A	INSR	ARVCF	FLNA	FOCAD	PUF60	PTEN	RPL10	RDH11	FGD1	COG1	SLC35C1	ATR	KIF14	KCNJ8	BBS1	TDGF1	CRLF1	ARL2BP	PGAP2	CERT1	CEP104	NEXMIF	SLC25A24	NUP188	MEF2C	BANF1	NPHP1	PARS2	SAG	SH3PXD2B	CWC27	KDF1	FLNB	GJA5	TBL1XR1	CHST14	TMEM138	LIFR	UBE2A	LMBRD2	NSD1	UBE4B	EYA1	GAS1	TTC26	MESD	PEX26	PIGW	HGSNAT	PYCR1	IFT43	PLK4	PIGA	DYNC1I2	HPDL	ANKRD17	CASK	ACTG2	ATP6V0A2	PPP2R3C	NAA10	TBCK	DPF2	ALG9	SAMHD1	ADAR	COL1A1	PEX13	ALX3	USP9X	HESX1	RNF2	AIFM1	IL2RA	NEUROD2	ORC4	IDUA	JMJD1C	RIPPLY2	AMMECR1	GAD1	MAP2K1	DHCR24	AP4S1	EFNB1	POU1F1	ZSWIM6	RPGR	SMS	PORCN	GFRA1	AHR	SC5D	EXTL3	WDR4	FSCN2	IARS2	CTSK	NACC1	AASS	FBXL4	CUL7	ARSL	HES7	DEAF1	RBMX	RTL1	CASZ1	KIAA0753	ADGRG6	CNOT1	CANT1	FBXO28	PRPF31	SMARCE1	DPYD	FBXL3	DZIP1L	COL18A1	SPECC1L	DHCR7	EYS	CBY1	SMARCA4	PHF8	MMP2	TBC1D23	EXT1	GJA1	RREB1	NALCN	KAT6A	ALG3	SCN2A	BBS2	REEP6	BMP2	DNMT3B	KDM5B	CD96	TCTN1	SCN1A	FREM2	MED12L	CEP290	DDR2	ASXL2	MTX2	NARS2	PLCB3	EDAR	TXNDC15	IMPG1	FREM1	HSPA9	NSUN2	YY1	RALA	EDN3	CLRN1	HYLS1	PRDM16	KNSTRN	PACS1	PIGF	AGBL5	DMXL2	PAX3	XPC	SKIC3	PRPH2	KIF7	PEX12	RPE65	PDPN	CEP41	CDC42	FOXP1	SMARCD1	MED13L	SETD1A	TTC8	FRMPD4	GATAD2B	PDE4D	DNA2	SLC37A4	FIG4	KANSL1	ZC4H2	MESP2	DHDDS	ZNHIT3	KLHL15	MID1	PEX16	ZNF148	PDE6D	SOX9	PRKAR1B	CCNK	BUB3	KDM4B	SPATA7	CSGALNACT1	SPTBN1	CENPJ	TFAP2A	ADAMTS3	ADAMTS18	MED12	NF1	ARHGEF18	TUBGCP4	GMNN	NSD2	CLPB	POGZ	ATP7A	CNOT2	EPG5	EXOC2	CDK10	FOXC1	DGCR8	MPLKIP	SCARF2	CENPF	DDB1	CEP120	LTBP1	ROM1	TOE1	NFIB	WNT9B	CA4	PIGT	CDK13	MECP2	MMP23B	ZNF513	RP1L1	RLBP1	PRKACB	COMT	RMRP	AFF4	AKT1	KIFBP	CLCF1	PSAT1	PBX1	KLHL7	RIC1	ATRIP	CHRNA7	B3GALT6	HUWE1	PEX14	SET	COG4	RNF125	EXOSC1	SLC29A3	RBBP8	LFNG	RLIM	TLK2	SMARCA2	PIGP	MERTK	ABCA12	ZPR1	CRX	AUTS2	KCNE5	CDK19	CILK1	NHEJ1	FOXA2	KIAA0586	KDM3B	TBX4	ANTXR1	PPP3CA	FMR1	EIF5A	ADAT3	MAN1B1	RP1	ITCH	CLCN3	ACTL6B	AFF3	SOX5	MYMX	MPDZ	HIVEP2	PEX3	PRPF6	SOX3	RNU7-1	TMEM107	SCAPER	ECE1	TUB	RAB18	ELN	SMG9	PIBF1	RDH12	ALDH18A1	IMPG2	THUMPD1	SUMF1	OCLN	GNS	WDR35	CEP57	EBP	POC1A	TMEM94	SRD5A3	PRPS1	ACTG1	ECEL1	ERCC3	CHRND	LRPPRC	KIAA1549	GLUL	MEIS2	NFKBIA	SLC2A10	TMEM70	TRIM8	TRIP12	NEK2	IQSEC2	BRF1	SLX4	TBCD	LHX4	LUZP1	UBR1	PIK3CD	MBTPS2	TXNL4A	LRP2	PYCR2	EFEMP2	PUS7	ARL13B	DOCK7	BLTP1	CHRNG	GHR	CDHR1	AGA	KCNAB2	RALGAPA1	PIK3C2A	PRKD1	ZMYM2	TREX1	ALDH1A2	RNF135	GH1	ARL6	ADAMTSL2	CSNK2A1	SEC23A	MRAS	SLC2A1	SLC17A5	KCNA1	LRAT	ESCO2	IFT88	ESS2	ZNF292	CDC42BPB	GNPAT	ASPH	BCR	NIPBL	IER3IP1	CNGB1	SNIP1	NR2F1	PCDHGC4	LIG4	CAV1	H4C5	EDNRB	LMX1B	RAC3	ATIC	C2CD3	XPA	RBM8A	AP4M1	CFAP418	IFT52	MAN2C1	PEX19	TOR1A	METTL23	GDF11	SMC3	PRIM1	NBN	ASH1L	LRP4	TRAF6	IL6ST	PEX2	INTS1	ZNF408	HNRNPH2	IRX5	TP63	SNAP29	ARID2	MVK	STAT5B	B3GLCT	PLOD3	MSL3	IFIH1	DHX37	RHO	PIGL	CRIPT	SIM1	SCNM1	GRIN1	IDH3B	DHX38	YWHAE	KCNK9	WLS	CHRNA1	ITGA8	CLIC2	AIMP2	SIN3A	MAB21L1	PIEZO2	MED25	RYR1	DIS3L2	GNAI1	IGF1R	SLC6A1	UFD1	KMT2A	PNKP
HP_ABNORMAL_NASAL_BONE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NASAL_BONE_MORPHOLOGY	SLC25A24	CTNNB1	ALX4	PPP1R12A	SIX3	USH1G	BRAF	PDE4D	TONSL	PRKAR1A
HP_APLASIA_HYPOPLASIA_OF_THE_NASAL_BONE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_NASAL_BONE	SLC25A24	ALX4	PPP1R12A	SIX3	USH1G	PDE4D	TONSL	PRKAR1A
HP_ABNORMAL_RENAL_PELVIS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_PELVIS_MORPHOLOGY	PIGN	BCOR	CHRM3	MKKS	KAT6B	SEMA3E	IARS1	CLCN3	TBX1	APC	NF1	GPC4	MYMX	NAA10	LTBP4	HYLS1	FLNA	CASZ1	IPO8	PIGY	PPP3CA	RNU4ATAC	DYNC2I1	WASHC5	B4GAT1	KRAS	SETD2	ERCC6	SPEN	KDM6A	CAMK2A	PIGV	RAB18	PIGL	WDR35	SKI	COL18A1	ARL3	DHCR7	HSPG2	WFS1	ARID1B	RORA	LMOD1	PEX3	TAPT1	LIG4	MYOD1	ITGA6	MBTPS2	G6PC3	CPT2	ZEB2	YY1	KAT6A	EBP	IFT80	NRIP1	RBM10	PEX1	LRIG2	GRIA3	MAP2K2	ACTG1	ZBTB18	DSE	CTLA4	MYCN	TBC1D20	CDC42	CREBBP	POLR3A	PEX6	DYNC2H1	LMNB1	DVL1	MYMK	PEX19	EYA1	PRTN3	CTNNB1	FANCB	FAM20C	TP63	FGFR3	RAB3GAP2	BRF1	ERCC8	FGF10	PRDM16	LUZP1	UBR1	EN1	HLA-DPB1	DYRK1A	GREB1L	HDAC4	NCAPG2	DLK1	ARPC4	HNRNPK	DDX6	GEMIN4	APC2	RTL1	PEX13	PORCN	FGFR2	BAP1	PDPN	SOS1	ATN1	PAX7	CD81	CHD7	MED12	DYNC2I2	GNB1	KCNAB2	CCBE1	ATP6V1B2	MEG3	ZMYM2	CRTAP	ACTG2	XDH	FGFR1	FOXF1	KANSL1	PI4KA	TRRAP	STRA6	ERBB3	MID1	ROR2	B3GALT6	ITGB4	CDKN1C	SOX9	TBC1D24	SHH	NSUN2	SETBP1	ATRX	CDC42BPB	TFAP2A	RERE	SIX5	KMT2D	GABRD	LAMB3	SRCAP	PEX11B	KIAA0753	HPSE2	NBN	RAB23	GLI3	RECQL4	PRKCZ	BRAF	PEX12	PLD1	ATP7A	OFD1	RBM8A	TOGARAM1	RAD51C	TASP1	POR	ACTB	NSD1	FOCAD	WNT5A	SCARF2	CENPF	DDB1	COG1	PEX5	PEX10	GPC3	TBX15	B3GLCT	PGAP2	SLC6A17	MMP23B	GATA3	SPINK5	PIEZO2	COG7	PEX2	SOX17	CCDC22	MIA3	RAB3GAP1	MYL9	EP300	PEX14	CHST14	LAMC2	FLI1	PEX16	UBE4B	SHANK3	TTC26	KCTD1	PIGW	PIGA	MAP3K7	FGF13	USP9X	SALL4	PGAP3	TBX18	SIX1	TBCK	NXN	PIGO	ZIC3	WLS	SPART	NFIA	HLA-DPA1	LAMA3	MASP1	NSDHL	PGM1	OTUD5	MAP2K1	MED25	ALG9	PEX26	PTPN22	NDUFAF3	HOXD13	BNC2	CA2	POLE	CHRNA3	PLEC	ARNT2
HP_ABNORMAL_FETAL_CARDIOVASCULAR_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FETAL_CARDIOVASCULAR_MORPHOLOGY	CCDC22	TLK2	SPECC1L	STAG1	FANCB	PACS1	FANCF	HSPG2	GATA6	WASHC5	NRAS	MYH7	MDFIC	FOXF1	SCARF2	QRICH1	TAPT1	ZNF699	SLC30A9	GNB2	PIGW	PIGY	MKS1	PGAP2	PGAP3	MCTP2	WT1	HOXD13	PAK2	PIGV	RAC1	DPF2	POR	PIGO	RHD	PIGL	DDX6	TWIST2	WNT3
HP_NONCOMMUNICATING_HYDROCEPHALUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NONCOMMUNICATING_HYDROCEPHALUS	TSC2	IFNG	TSC1	KDM4B	FOXJ1	BICRA
HP_DILATATION_OF_THE_BLADDER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DILATATION_OF_THE_BLADDER	NKX2-1	MYLK	MYL9	ACTG2	LRIG2	AVPR2	MYH11	FOXF1	LMOD1	TP63	AQP2	MYOCD
HP_CONGENITAL_POSTERIOR_URETHRAL_VALVE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_POSTERIOR_URETHRAL_VALVE	CHRM3	SRCAP	NSD1	SETD2	BNC2	MID1	IGF2	APC2	HNRNPH1
HP_BILATERAL_RENAL_AGENESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_RENAL_AGENESIS	KIF14	NADSYN1	GLI3	GFRA1	HS2ST1	ITGA8
HP_ABNORMAL_CIRCULATING_LONG_CHAIN_FATTY_ACID_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_LONG_CHAIN_FATTY_ACID_CONCENTRATION	ABCD1	PEX5	PEX19	PEX7	PEX3	PEX10	PHYH	PEX1	CPT2	PEX2	AMACR	PEX12	PEX13	PEX11B	PEX26	PEX16	PEX14	PEX6
HP_ABNORMAL_CIRCULATING_FATTY_ACID_ANION_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_FATTY_ACID_ANION_CONCENTRATION	ACADM	MMACHC	PEX26	DLD	LMBRD1	NDUFAF6	ABCD4	TANGO2	SLC22A5	COL7A1	ACAD9	EHHADH	HADHA	MMP1	SCO1	NADK2	CPT2	DNM1L	MCEE	COX16	ACAD8	MCCC2	GATM	HADH	SLC34A1	SLC25A20	ACADS	HMGCL	SLC52A1	HADHB	ACADVL	ETHE1	MT-TE	TRMU	CTNS
HP_ABNORMALITY_OF_GLYCOLIPID_METABOLISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_GLYCOLIPID_METABOLISM	PSAP	KHK	GM2A	ARSA	MT-CO3	HEXB	MCOLN1	LPIN1	MT-CO1	GLA
HP_ANEMIA_OF_INADEQUATE_PRODUCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANEMIA_OF_INADEQUATE_PRODUCTION	FOXP3	PHGDH	RHD	HBA1	WIPF1	FANCB	ABCD4	C2orf69	TRNT1	MMACHC	SF3B1	AMN	KIT	TREX1	UBE2T	SAMD9L	UBA1	ZNF699	RPS26	HSCB	TET2	RPS24	GATA1	TKFC	HBB	HPRT1	FECH	SHPK	MTRR	TSR2	WFS1	RPS27	PSMC1	ADA2	KCNN4	GDF2	RPS28	OSTM1	RPL35A	UQCRFS1	RMRP	COX4I2	SMAD4	RPL15	SLC19A2	HBG2	SLC25A21	RPL11	PALB2	CP	RPS14	ACVRL1	RPS29	HLA-DQB1	KCNQ1	LMBRD1	BRCA2	SLC46A1	RPL27	ELMO2	SFXN4	SLC25A10	CUBN	COL7A1	FTCD	FDX2	PSMB8	RPL26	SLC25A38	SLC19A1	APC	SRD5A3	KLF1	RAD51C	ALAS2	FANCD2	RPS10	WAS	RAC2	RPL5	UMPS	MTR	COL2A1	MAD2L2	FARSA	FANCA	FANCI	HBD	PIEZO1	SLC4A1	LARS1	BRIP1	SLC37A4	RPL18	EFL1	RFWD3	XRCC2	ATRX	RPL31	LPIN2	TEK	CASP10	FAS	PUS1	CD55	IREB2	DNAJC19	ISCU	ELF4	GALNT2	KARS1	RPS19	SLC29A3	SEC23B	RHAG	SRP54	SRSF2	KCNE1	SBDS	RHCE	COX10	BRCA1	ABCB7	DHFR	CLCNKB	ALDOA	CLPX	BCL11A	CDAN1	TPI1	TOR1A	ALG2	SLC35C1	FN1	FANCF	AGGF1	TAFAZZIN	HBA2	IL6ST	HBG1	TMPRSS6	RPS17	PLA2G4A	IRX5	KIF23	RPS15A	HLA-DQA1	RPS20	LCAT	ATP6AP1	RPS7	MMP1	FANCM	ABCD3	MVK	SLX4	DAXX	TGFB1	TCN2	LARS2	DNAJC21	DNM1L	NAA10	ERCC4	FANCL	PSTPIP1	OPA1	CAT	MMADHC	RACGAP1	CBLIF	CARD10	SMPD1	RIPK1	YARS2	MYD88	RPL35	FASLG	ENG	PRDX1	FANCE	TF	FANCG	STK11	HK1	MTHFD1	CDIN1	RAD51	FGF23	PNPO	EIF2AK3	ASXL1	FANCC	HSPA9	SLC12A3
HP_ABNORMAL_MYELOID_LEUKOCYTE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MYELOID_LEUKOCYTE_MORPHOLOGY	MDM4	FOXP3	EXTL3	IRF2BP2	WIPF1	TNNC1	ABCD4	MECOM	FBXL4	ABCC9	FIP1L1	SAMD9L	IFNGR1	LIPA	DES	HAX1	STK4	DOCK8	TCF3	PRF1	IPO8	FHL2	TET2	GPI	CYBC1	TERT	RAB27A	RMRP	RPS24	SGCG	LAMTOR2	AP3D1	NPC2	RAC2	ASXL1	ACTN2	CYP26C1	STAT5B	GLB1	RAG1	RPS27	RASGRP1	ADA2	IL1RN	LIG4	RPS28	RECQL4	PARN	TCIRG1	CD247	RFXANK	FANCC	MYH9	CYBB	ANKRD1	BCR	VPS33A	PCCB	HAVCR2	FCGR3B	RPS29	IGHM	LRBA	RPL35A	PRTN3	SCN5A	USP8	FDX2	TMPO	RPL26	PIK3R1	MEFV	STAT3	PGM3	HLA-DPB1	IL6ST	FNIP1	IKZF1	XIAP	RFXAP	GINS1	MYPN	LBR	CTC1	ABHD5	WAS	GTF2E2	IRAK4	CAPN3	SMARCAL1	SLC37A4	ICOS	NPM1	PCCA	ACP5	SLC35A1	CDH23	MMUT	CD3D	USP48	BCOR	USB1	EFL1	SPI1	BAG3	GATAD1	TPM1	SRP54	TFR2	PML	ASAH1	CASP10	ATRX	SREBF1	IKBKG	TMEM147	CARD11	UNC13D	BLNK	STXBP2	NCF1	MAD2L2	CLPB	DDX41	ADA	RFX5	LYST	FKTN	NBAS	TTN	WRAP53	TNNI3	PRDM16	SRSF2	BAG5	GSS	CDCA7	TBK1	SBDS	TNNT2	VPS45	ZBTB24	SLC35C1	DSP	TCAP	FANCI	CSF3R	TRAF3	CRYAB	SDHA	RPS19	HELLS	TRAC	TLR8	VPS13B	SLC7A7	CARD9	LCP2	RPS15A	ZNF341	RAG2	AK2	BTK	RPS7	FUT8	WDR1	PRKCD	SPINK5	SMPD1	TCN2	MTRR	MMAB	GATA1	PPCS	JAGN1	SH2D1A	LAMA4	CARD10	ABL1	SLC29A3	CSRP3	GATA2	NDUFA6	JAK1	MYD88	RPL18	HLA-DPA1	PRDX1	FBXW7	NLRP3	PSEN1	RBM20	APOE	NUMA1	CXCR4	MSN	MTHFD1	UNC93B1	FAS	GFI1	EIF2AK3	CIITA	NCF4	TERC	PNP	ACTC1	CAP2	TFRC	MMACHC	SF3B1	KIT	FANCA	STAT1	IRF8	CD40	RPS26	HSCB	FANCD2	PDGFRB	PIK3CD	IL7R	PPIL1	TAF1A	TP53	DCLRE1C	CD79A	CEBPE	TDP2	FANCE	TONSL	NHP2	G6PC3	HLA-DRB1	IL36RN	NOP10	CYBA	CHD7	SAMD9	BCL11B	MMAA	TINF2	RPL15	TPP2	PMM2	GTF2H5	AP3B1	IL2RG	RPL11	PDGFRA	RTEL1	CD3E	PRKAR1A	ZAP70	CTLA4	STX11	TICAM1	LMBRD1	SLC46A1	RPL27	HLA-B	MYH6	MYSM1	FTCD	MPLKIP	BACH2	SLC19A1	PLN	SLC27A4	NCF2	DMD	RPS10	FASLG	PACS2	TBX21	MYBPC3	AGA	RARA	RNU4ATAC	ETV6	NEU1	EPG5	TXNRD2	RPL31	RPL5	MYH7	ELANE	PIK3CG	ERCC3	NSUN2	TAFAZZIN	HTRA2	NABP1	MVK	ZBTB16	IFNG	SGCD	TLR3	FMO3	DSG2	COG4	DOLK	RBM8A	TARS1	DKC1	TSR2	IKBKB	BRAF	LMNA	ITCH	NLRP1	DNMT3B	NR3C1	DNAJC21	CDC40	NEXN	CARS1	SEC61A1	CD79B	RUNX1	RPS17	LRRC8A	TYMS	CUBN	RPS20	CDSN	PSEN2	ERCC2	RNF113A	CD27	CAMK2B	UBE2A	VCL	CXCR2	SASH3	NPC1	OTULIN	SMARCD2	ZNFX1	AMN	CBL	DNASE2	TOM1	FANCG	CD40LG	HAND2	RPL35	RPS14	IGLL1	LDB3	NRAS	ANAPC1	RAF1	PTPN22	BTNL2	TBL1XR1	FIBP	KRAS
HP_B_LYMPHOCYTOPENIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_B_LYMPHOCYTOPENIA	RAG2	DCLRE1B	B2M	BTK	RIPK1	TRNT1	LRBA	WDR1	IKZF1	MYSM1	STAT1	ADA	SASH3	SYK	RAG1	NBN	PIK3CD	KNSTRN	TCF3	FNIP1	MYD88	ATP11A	MCM10	POMP	FCHO1	ALG12	NFKB2	TOM1	PIK3R1	DCLRE1C	IVNS1ABP	REL	IL2RA	ICOS	RAC2	ARHGEF1	PRIM1	IGLL1	IKZF3	NHEJ1	CD79B	UNC119	SLC39A7	TLR8	IKBKG	SPI1	IGHM	GFI1	DOCK8	JAK3
HP_ABNORMALITY_OF_LIPOPROTEIN_CHOLESTEROL_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_LIPOPROTEIN_CHOLESTEROL_CONCENTRATION	LCAT	PPP1R17	APOC3	ALMS1	ANGPTL3	SLC25A13	LPL	GHR	ABCG5	TMEM43	CREB3L3	LDLRAP1	LMNA	B4GALT1	SMPD1	NGLY1	APOA5	LIPA	ABCA1	CETP	PSMB8	ABCG8	APOA1	GALNT2	UBR1	APOB	EMD	SYNE2	LDLR	TMEM199	MTTP	CCDC115	TTPA	MSMO1	CELA2A	EPHX2	APOE	FHL1	LIPC	PCSK9	APOC2	CEP19	ABCA2	ALB	PPARG	PANK2	DYRK1B	APOA2	FDFT1	SYNE1	SLC7A7	ALG6	LRP6	GPIHBP1	CYP7A1	SAR1B
HP_HYPERLIPOPROTEINEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERLIPOPROTEINEMIA	PPP1R17	LCAT	APOC3	SLC25A13	LPL	GHR	ABCG5	TMEM43	LDLRAP1	SMPD1	APOA5	LIPA	CETP	ABCG8	LMNA	UBR1	EMD	SYNE2	LDLR	TMEM199	CCDC115	TTPA	CELA2A	EPHX2	APOE	FHL1	APOB	LIPC	APOC2	CEP19	ABCA2	ALB	DYRK1B	APOA2	SYNE1	SLC7A7	PCSK9	LRP6	GPIHBP1	CYP7A1
HP_HYPOLIPOPROTEINEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOLIPOPROTEINEMIA	LCAT	MSMO1	SLC25A13	APOC3	ALMS1	ANGPTL3	SMPD1	CELA2A	APOE	CREB3L3	LMNA	B4GALT1	NGLY1	APOA5	LIPA	ABCA1	PSMB8	MTTP	CEP19	APOA1	GALNT2	PPARG	PANK2	APOB	FDFT1	SLC7A7	ALG6	GPIHBP1	SAR1B
HP_POLYGENIC_INHERITANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYGENIC_INHERITANCE	CFH	NLRP1	SERPINH1	TP53	BAX	TAL2	NUP214	ABCG8	BMP4	TAL1	PPARG	APOL1	HTR2A	A2ML1	TPH2	GNB1	IRF6	BCR	FKBP5	NBN	FLT3	CST3	STOX1
HP_DIGENIC_INHERITANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIGENIC_INHERITANCE	DNMT3B	GDF3	NEK1	LRIF1	SLCO1B1	GJB6	ADH5	GJB3	TYMS	SLCO1B3	DYNC2H1	GJB2	GDF6	SMCHD1
HP_ABNORMALITY_OF_THE_EXTRINSIC_PATHWAY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_EXTRINSIC_PATHWAY	ALG8	SERPINC1	DPM2	GGCX	MGAT2	VKORC1	SLC37A4	SRD5A3	PMM2	DPM1	B4GALT1	PGM1	AHCY	DPAGT1	F7	ALG6	MPI
HP_ABNORMALITY_OF_THE_INTRINSIC_PATHWAY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_INTRINSIC_PATHWAY	MAP2K1	SERPINC1	DPM2	MPI	MGAT2	VWF	B4GALT1	ATP6V1E1	NGLY1	GGCX	F11	ALG8	LMAN1	ATP6V0A2	VKORC1	SRD5A3	PTPN11	F8	AHCY	MCFD2	DPAGT1	ALG12	ATP6V1A	BRAF	F9	SOS1	ALG2	F12	PGM1	ALG6	PMM2	SLC37A4	LZTR1	DPM1
HP_ABNORMALITY_OF_THE_COMMON_COAGULATION_PATHWAY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_COMMON_COAGULATION_PATHWAY	PML	MAP2K1	ANO6	UNC13D	SERPINC1	F13A1	MPI	XIAP	IRF2BP2	FIP1L1	NGLY1	FGG	GGCX	F5	NABP1	PRF1	ZBTB16	LMAN1	VKORC1	F13B	NLRC4	PTPN11	MCM10	PLG	HAVCR2	CFH	FGA	SERPINE1	AHCY	ITGB2	MCFD2	SPTA1	ALG12	STAT5B	ANK1	BRAF	LYST	CD46	CFI	SPTB	EPB42	NPM1	HELLPAR	STAT3	RARA	F10	FGB	NUMA1	STXBP2	GNA14	STX11	SLC37A4	BCOR	MGAT2	TBL1XR1	SLC7A7	ALG6	SLC4A1	PRKAR1A
HP_ABNORMAL_MORPHOLOGY_OF_THE_ABDOMINAL_MUSCULATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_THE_ABDOMINAL_MUSCULATURE	GNPTAB	CHRM3	CHRNG	H19	LZTR1	IGF2	GPC4	MANBA	ELMO2	CHST14	MASP1	FOXF1	COL3A1	FBN1	CANT1	NRAS	MEG3	RTL1	CHAMP1	COLEC10	COLEC11	CBL	DLK1	SOX6	ACTG2	PPP2R3C	CDKN1C	RRAS2	FLNB	CD96	GPC3	XYLT1	BRAF	SHPK	PORCN	SOS2	KRAS	MTOR	CSGALNACT1	EZH2	RAF1	PTPN11	MCOLN1	SPRED2	MYH3	ATP7A	RRAS	MRAS	B3GLCT	RIT1	KCNQ1OT1	SOS1	RASA2	DIS3L2	KCNQ1	SLC25A24	TBCK	PIGQ	RMRP	SKI
HP_ABNORMAL_CEREBRAL_SUBCORTEX_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CEREBRAL_SUBCORTEX_MORPHOLOGY	MT-ND4	KIF2A	NDUFA9	ODC1	CACNA1E	TMCO1	SPATA5	HS2ST1	PLCH1	CPLANE1	RPGRIP1	OTX2	ZNF699	GABRA5	CPT2	RNASEH2C	ALDH7A1	CYP2U1	SMARCB1	NDUFB11	ALDH18A1	TSC2	FKRP	PGAP1	DPYSL5	SIX3	TCF12	GSX2	FBXW11	ATP8A2	DYNC2H1	CNBP	PDE10A	TAF8	WAC	DLL1	NDUFA2	STAMBP	HNRNPR	FDXR	ARID1B	PDGFB	ADGRG1	RNASEH2B	ANKLE2	RPGRIP1L	KRAS	NRCAM	POLR3A	TOPORS	SATB2	VPS4A	POMT1	LMNB1	EXOSC9	CARS2	HSD17B4	NOTCH1	RUSC2	WARS2	YWHAG	COL4A1	KIDINS220	ERCC8	GNAS	C12orf57	KIF7	FLII	AIMP1	PIK3CA	KATNB1	NMNAT1	MT-ND6	TUBGCP2	EMX2	KMT2A	POMGNT1	IGBP1	MT-ATP6	MKS1	CHKA	UBA5	ATN1	DDHD2	TP73	FGF8	CYP7B1	RAI1	ATP6V1A	WT1	GLI2	GRIA4	ARX	CLP1	POMGNT2	TPRKB	ASNS	MOCS1	CDH2	ZNF335	TUBB2B	TRRAP	SCYL2	GABRA2	COPB2	REPS1	SOX10	PCGF2	TUBB	MT-ND5	FGFR1	SLC25A4	SEPSECS	ABCC9	ERMARD	DCC	GABRD	STXBP1	ZIC2	PTDSS1	GALNT2	SCN3A	IGF1R	TCTN3	PAFAH1B1	ALG11	ARSA	FOXG1	FRMD4A	TCF4	PLEKHG2	UBE3B	HIC1	TSEN2	THOC2	SLC9A6	ZNF423	HTRA1	ALX3	TREX1	TTC5	GPC3	SURF1	CDKL5	PAH	GJC2	MAPT	HESX1	NR4A2	NDUFS8	CTU2	TUBB2A	PSEN1	RFWD3	HCN1	POLR3GL	ASXL1	TK2	MOGS	MAN2B1	TMEM237	FLI1	PIGG	SLC19A3	PGAP3	SHANK3	STAG2	MTRR	TTI2	ARSI	TCTN2	SIN3B	TRAPPC14	RAB3GAP2	AUH	DYRK1A	MT-TF	PDSS2	FAM111A	SOX11	UNC80	WDR45	LAMA1	POLR3K	AP4E1	ARV1	AMPD2	MED23	STUB1	MED25	FZR1	SYNJ1	FDFT1	DISP1	TRAPPC9	LYRM7	ETHE1	CNOT3	CHMP2B	KATNIP	KAT5	CPSF3	STIL	WDR4	ACP5	SCN8A	POLRMT	SACS	NF1	GRN	SUFU	NECAP1	KCTD7	C19orf12	TRAPPC10	GPKOW	OCRL	CTBP1	ATP1A3	INPP5E	PAX6	CNTNAP1	GNA11	SYNGAP1	CDK5RAP2	ARMC9	AIFM1	AP4B1	NDUFS4	CCDC47	WDR62	SLC25A22	KARS1	BUB1B	SHMT2	LIPT2	GLUD2	FGF12	GNAO1	CPLX1	PEX1	EML1	CLCN4	DDX3X	LEMD2	CNP	SNX14	GRIA3	OTUD6B	BICD2	HIBCH	CP	TBC1D20	LMBR1	CHMP1A	FAT4	GCSH	ECHS1	GON7	PPP1R15B	ABCD1	FOXRED1	SLC6A9	TACO1	TUBB3	RERE	TRAPPC6B	TMEM216	RAC1	AHCY	SNORD118	KDM1A	PIGH	RECQL4	HACE1	GM2A	PIK3R2	BRAT1	SMG8	ATP6AP2	ERCC6	RNU4ATAC	B9D1	PTCH1	TOE1	BPTF	UGP2	POLG	PIGN	POMK	PHGDH	MOCS2	DPYD	TIMM50	GBA1	HNRNPK	ADSL	NDUFS2	ERCC3	SCN1B	KCNA2	NAXE	NOVA2	RNASEH2A	VPS53	CEP85L	PRMT7	ZFYVE26	PPP2CA	HEPACAM	MT-CO1	SLC1A4	TOGARAM1	PPP2R1A	ADAT3	MAG	CYB5A	ISG15	MRPL12	ITPR1	ALG2	ALX1	AP1S2	CARS1	TRMT1	NFIX	FARS2	PITX1	ASPA	WWOX	SMO	GFER	CEP104	UFC1	KCNB1	PARS2	OGDHL	LIPT1	GALC	SH3PXD2B	LNPK	RAB3GAP1	PPP1R12A	MYL9	GRIK2	RNF113A	TDGF1	VPS11	JPH3	SUGCT	UBE2A	NSD1	ZBTB18	TBCE	RNF168	UBE4B	TGFB1	MT-TW	TYMP	PIGA	HYCC1	NODAL	HPDL	MAST1	DPF2	SAMHD1	PIGU	USP9X	DDX59	EMC1	CYFIP2	TREM2	GAD1	AP4S1	EFNB1	PDP1	FAM149B1	POU1F1	LARGE1	SLC25A19	RSPO2	CYP11A1	MEF2C	KAT6B	CTSK	SLC20A2	C2orf69	HTT	PC	SASS6	DEAF1	DNM1	KCNT1	GPT2	DPM3	SAMD9L	CASZ1	FKTN	CACNA2D1	KIAA0753	SPG11	IDH1	VPS41	PNPT1	DYNC2I1	NKX6-2	KIAA0586	EXTL3	COQ8A	KCNQ2	IFT140	PLP1	UBA1	PDHX	SLC25A15	SLC12A2	MT-TL1	CBY1	TBC1D7	GLI3	TET3	TUBA8	ISCA2	CEP120	CWF19L1	GJA1	ACTL6B	PANK2	TAF1	EXOC7	POMT2	XPR1	GRIN1	DIS3L2	NDUFA12	MED12L	CEP290	ASPM	NDUFC2	FOXH1	ASXL2	SLC6A8	HSPA9	YY1	GFAP	EARS2	POU3F3	VAMP2	HYLS1	TRAPPC12	CNKSR2	PRDM16	FA2H	C2CD3	ARNT2	CA2	CEP41	CENPJ	GPSM2	LRPPRC	FARSA	ATR	ACY1	SMARCD1	FRMPD4	MT-TS2	PRKDC	NDUFS3	NCAPD3	HMGCL	CC2D2A	MID1	MT-TQ	CIT	ZNF148	MT-CYB	NDUFA4	HCCS	TAF13	KDM4B	ADH1C	NUDT2	KMT2E	FANCB	NACC1	SPTBN4	PRF1	PRUNE1	MORC2	RTTN	WDR45B	NDUFV1	OFD1	DOHH	EPG5	EXOC2	VPS13D	PSAP	CSPP1	MPLKIP	CDK6	COG4	ARHGAP31	LIG3	ERLIN2	MTRFR	NDUFAF3	MYT1L	CENPE	NFIA	ADARB1	MT-TV	CLCN3	CDK13	AARS1	FGFR3	MMP23B	TRAK1	TGIF1	TCTN1	ADCY5	CYB5R3	ANKRD11	ATL1	TM4SF20	CDK8	EP300	B4GAT1	COQ2	CASK	ALX4	MDH2	EXOSC1	EXOSC8	MTOR	GDF1	TMX2	NDUFA6	BRF1	B4GALNT1	CELF2	PUF60	CILK1	FOXA2	PLA2G6	AMT	RSPRY1	POLG2	HIKESHI	NDUFV2	COG5	VRK1	HIVEP2	SLC44A1	PLPBP	MCM7	TMEM107	SPEN	MT-TT	AHI1	RAB18	SMG9	SKI	AP3B2	ACO2	AGTPBP1	COX7B	ARFGEF2	THUMPD1	NDE1	MINPP1	NDUFAF5	MBTPS2	PTPN23	VPS13A	SNCAIP	TIAM1	GBA2	CDC42	TMEM70	PSAT1	TECPR2	MMACHC	SEC31A	SHH	SPG21	SLC38A3	GTPBP2	UBTF	LETM1	DHCR7	PSMB8	NARS1	LHX4	TBCD	LUZP1	SCO2	VPS16	ATG7	GLB1	VWA3B	RFT1	NADK2	GABRB1	PYCR2	RAD51	NEUROD2	FGFR2	ARL13B	DOCK7	MECR	AHSG	TMEM251	PROP1	RALGAPA1	PLAA	PIK3C2A	UBE3A	TRAPPC11	HHAT	GTPBP3	ATXN8OS	MT-ND2	CDC42BPB	TBP	HTRA2	IER3IP1	SNIP1	SOX3	KAT8	CACNA1I	IBA57	RAB23	RNF220	CDON	SLC13A5	TSEN15	LMX1B	UPF3B	DALRD3	EXOSC3	RAC3	SUCLG1	MTFMT	AP4M1	ITGB6	TARS1	SOX2	MAN2C1	IRF2BPL	TMEM106B	PDHA1	BCAP31	SYT1	USP7	PIEZO2	GABRG2	SLC5A6	TNR	OSTM1	ARID2	ABAT	SON	CYP27A1	VANGL2	KMT2B	GRIN2D	B3GLCT	PLXNA1	POLR3B	IFIH1	CRIPT	YWHAE	KANSL1	WLS	FUZ	METTL5	GABBR2	L1CAM	AIMP2	SIN3A	DCX	GAS1	DNAJC19	FBP2	ACADS	PDE8B	LRP2	YARS1	CUL4B	EEF1A2	ZBTB20	LRP12	GPC4	SNCA	PDYN	B9D2	ZIC1	C9orf72	MT-ND1	BMP4	OPA1	ASXL3	SETD2	NDUFS7	GNPTAB	CAMK2A	SPATA5L1	VCP	NSD2	EDEM3	ATP1A2	VPS51	MFSD2A	NDUFA13	WDR26	SLC25A46	COX15	NTRK2	PUS3	ZEB2	DOCK6	RBM10	DAG1	HK1	CREBBP	CFC1	CACNA1A	RPS6KA3	TRIP13	EOMES	AP1G1	TMEM218	TSEN54	RIN2	SRPX2	PIGQ	MACF1	PPP2R5D	CLTC	GMPPB	LONP1	NDUFAF6	CASR	RNU7-1	ARID1A	LHX3	ZNF526	TMTC3	ENTPD1	EIF2S3	BCAS3	SLC30A9	SUPT16H	MAP1B	DHCR24	MMUT	SIK1	CRPPA	DNMT1	DPM2	DLAT	LAMA2	DHX16	PIGB	COASY	HID1	GRM7	COG2	CTNNB1	RANBP2	RNF13	CLPB	RRM2B	GOT2	FCSK	FASTKD2	RBPJ	RB1	ERCC5	FANCI	MTHFR	WNT3	LSM11	VPS13B	APC2	MAPK8IP3	MCPH1	TUBA1A	TRMT10A	COG7	VAC14	PRNP	DARS2	MRPS25	SLC35A2	ZMIZ1	NRAS	JAM2	ATAD3A	YIF1B	MICU1	STRADA	DNM1L	RBL2	KIF14	SPTAN1	GRIN2A	ZNF462	LRRC32	PDGFRB	PRR12	ATXN2	FLCN	CEP63	SLC1A2	ACVR1	BUB1	GBE1	NDUFA8	TMEM260	UNC13D	KCNK4	GCDH	LSS	NAA10	KIFBP	NANS	CSF1R	IFT52	TIMM8A	FGF13	SSR4	ATPAF2	DPH1	TSC1	MT-TH	CDK5	FGFRL1	NDUFB7	DHDDS	AP2M1	ADAR	WDR81	SHOC2	AHDC1	IFT80	FBXO7	FTL	GTF2H5	DPAGT1	CLN5	FH	PPP1R21	MAPKAPK5	NAGA	AP5Z1	SMC1A	PPP3CA	GFM1	MED27	PRRX1	LRRK2	SLC46A1	POLR1C	WDR73	ALG3	GABRB2	SQSTM1	CCDC88A	SMARCC2	MSTO1	SUZ12	TARS2	TMEM67	TMEM231	PNKP	TAF2	NSUN2	GLDC	RARS1	PCNT	OSGEP	ACER3	HSD17B10	PRKCZ	SETBP1	MRPS22	ALDH6A1	TMEM222	SOX4	B3GALNT2	NSRP1	SPG7	H3-3A	AKT3	DCHS1	PEX10	TUBG1	STX11	SELENOI	MT-TK	SNAP29	CCDC174	SLC25A24	NUP188	GATA3	RELN	KCNN2	NPHP1	FAR1	SIX6	TMEM138	LMBRD2	KIF1C	BCOR	PYCR1	DYNC1I2	ATP11A	PPP2R3C	IDS	SYT2	TBCK	PEX16	MT-ND3	EXOC8	MDH1	SLC2A1	FOXP2	NT5C2	NEXMIF	CLN8	TYROBP	RNASET2	SUCLA2	SALL1	MT-CO3	NONO	PORCN	D2HGDH	EOGT	PCLO	SZT2	FBXL4	HNRNPU	PHC1	CDK19	CNOT1	FBXO28	SMARCE1	NARS2	DIAPH1	WDR35	FLVCR2	SYNE1	HSPG2	PDHB	SMARCA4	NDUFB8	LIG4	TBC1D23	ERCC4	MED12	NALCN	GPX4	SCN2A	SUOX	KDM5B	ADORA2A	GFM2	NDUFAF2	ZDHHC9	KMT2C	ATP13A2	PAK1	RMND1	QARS1	EHMT1	DMXL2	HDAC4	ACOX1	GTF2E2	DEGS1	NDUFA10	PDPN	GATAD2B	IMPDH2	VAX1	FIG4	GJB1	ACTG1	MLC1	TMEM165	H1-4	VPS50	RXYLT1	SDHB	PDE6D	SVBP	BUB3	TMEM147	GLYCTK	MCOLN1	GNB2	EPRS1	POGZ	ALG12	MAP2K2	PTEN	MYORG	SLC12A6	CDK10	DONSON	CENPF	DDB1	NRROS	TSEN34	PI4KA	PET100	LAMB1	NOTCH3	SLC30A10	PRKN	ACTB	OCA2	HUWE1	ZSWIM6	HRAS	ERCC1	DISC1	ARF1	BSCL2	CEP135	PIGP	DPYS	ATXN3	ZNHIT3	THOC6	ALG8	KDM3B	AMER1	VARS1	DACT1	SLC25A1	RPL10	TXNDC15	CACNA1B	FANCD2	RHOBTB2	FLNA	PPIL1	DLL4	PIBF1	VARS2	MLH1	SDHA	RORA	CTNS	NTN1	SMARCA2	STXBP2	MFF	NUP62	TWNK	SUMF1	PROKR2	ACTA2	GLRX5	GLUL	MAPRE2	TRIM8	NEK1	CNTNAP2	SLC25A10	KNL1	IQSEC2	SLC39A14	PRPS1	KCNT2	KIF5C	CD96	NSUN3	MRPS16	DDX6	PPFIBP1	BLTP1	MRM2	DYNC2I2	KCNMA1	KCNAB2	GAA	PSMG2	NELFA	PRORP	MAF	STAT2	DARS1	KCNA1	EIF2AK2	NDUFS1	CEP57	DCDC2	DYNC1H1	L2HGDH	ZFR	CACNA1G	CDC40	SF3B2	COG6	HERC1	GCH1	KIF15	NHLRC2	ARL3	ERCC2	NR2F1	MT-CO2	POLR2A	CTNNA2	PMS2	OPHN1	NKX2-1	ATRX	SLC2A3	CEP152	NEDD4L	AARS2	ABHD16A	BRAF	OTUD5	SLC13A3	NUS1	EBP	DNAL4	ADNP	NAXD
HP_ABNORMAL_CORPUS_STRIATUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CORPUS_STRIATUM_MORPHOLOGY	POLR3A	TUBB2B	NEK1	HTT	PDE10A	NDE1	GCDH	JPH3	RNASEH2A	OPHN1	RNASEH2C	COASY	RNU7-1	IFIH1	SLC2A3	TIMM8A	ATP13A2	ATXN3	RANBP2	BSCL2	SAMHD1	ADAR	AIFM1	PNPT1	MT-ATP6	NDUFS2	DCX	MECR	NDUFB8	SURF1	FOXP2	NDUFAF5	TYROBP	SCO2	NDUFAF3	NUP62	TREX1	FTL	LSM11	VPS13A	TREM2	CP	TUBB3	RNASEH2B	PDE8B
HP_ABNORMAL_CIRCULATING_DICARBOXYLIC_ACID_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_DICARBOXYLIC_ACID_CONCENTRATION	RHD	NR1H4	POU2AF1	ABCD4	CYP7B1	MMACHC	SPTBN1	SLCO1B3	ABCC2	PKLR	TSHB	DCDC2	ZNF699	OTX2	EPB41	MYO5B	PRF1	ODC1	ETFA	RACGAP1	TMEM67	G6PD	HBB	TG	GATA1	ATP8B1	RHAG	ABCB11	L2HGDH	SLC51A	AKR1D1	AMACR	ALDH6A1	PKHD1	CPOX	SPTA1	TSHR	SUCLG1	RHCE	FARSB	UGT1A1	SPIB	ALDOA	LRP5	CDAN1	SPTB	HCFC1	FOCAD	EPB42	PGK1	KCNN4	PFKM	UQCRC2	PAX8	KIF12	CPT2	ATP7B	SLCO1B1	OSTM1	PEX19	NHLRC2	MMAA	UROS	ADK	GCDH	IRF5	SLC5A5	SLC4A1	ALDH7A1	FH	LIPT1	TPO	CASK	SLC35A2	LMBRD1	DGUOK	HSD3B7	LBR	SLC25A13	GLRX5	PIGA	SUGCT	UBE2A	BLVRA	IYD	MMEL1	SLC30A10	CD320	VIPAS39	ABCD3	ETFDH	TTC26	SLC19A1	NAA10	MMAB	FBP1	IGF1	VPS33B	MMADHC	KIF23	DUOXA2	IL12RB1	WDR35	KLF1	GYPC	ALDOB	ANK1	RFX6	SEC63	ETFB	SLC2A1	ABCB4	MED12	IDH2	PRDX1	TNPO3	POMC	IL12A	RNU4ATAC	DUOX2	PIEZO1	MTTP	SUCLA2	HK1	ACSF3	BAAT	TRMU	PRKCSH	TNFSF15	FDFT1	GSR	MMUT	GPX1	DNAJC19	EIF2AK3	SC5D	PAFAH1B1	VPS50	POLG2	SLC17A5
HP_ABNORMAL_CIRCULATING_MONOCARBOXYLIC_ACID_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_MONOCARBOXYLIC_ACID_CONCENTRATION	ACADM	MMACHC	LMBRD1	NDUFAF6	ABCD4	TANGO2	ACAD9	HADHA	COL7A1	MMP1	NADK2	MCEE	ABCD3	CPT2	MYO5B	DNAJC21	MCCC2	GATM	NR1H4	TALDO1	SLC25A20	ACADS	ATP8B1	ACADVL	EFL1	SRP54	NFU1	DZIP1L	SBDS	CTNS	PEX26	DLD	SLC22A5	ABCB4	VPS33B	EHHADH	SCO1	AKR1D1	AP1B1	KIF12	DNM1L	COX16	ACAD8	SEMA7A	HADH	SLC34A1	PKHD1	UNC45A	HMGCL	SLC52A1	HADHB	SLC51B	SLC10A1	ETHE1	MT-TE	TJP2	TRMU	VPS50	ABCB11
HP_CHROMOSOMAL_BREAKAGE_INDUCED_BY_IONIZING_RADIATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHROMOSOMAL_BREAKAGE_INDUCED_BY_IONIZING_RADIATION	PIK3CA	BAP1	TERT	SMARCB1	NF2	SMARCE1	AKT1	PDGFB	RAD50	SMO	TRAF7	RNF168	SUFU
HP_INCREASED_BONE_MINERAL_DENSITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_BONE_MINERAL_DENSITY	GJA1	DNAJC30	ERCC3	GNAS	PTH1R	CTSK	VPS37D	TCIRG1	BMP1	SETBP1	TNFSF11	LRP5	DLX3	SLC39A14	LBR	ANO5	PTDSS1	FLNA	MITF	VCP	LEMD3	MEG3	CSF1R	HMGA2	ERCC8	TNFRSF11A	SOST	METTL27	MAP2K1	STX16	DLK1	NAGLU	ENPP1	TGFB1	FAM111A	TARS1	DMP1	SIK3	PLEKHM1	TONSL	GTF2IRD1	GBA1	EIF2AK3	SLC26A2	OSTM1	MTAP	CLCN7	CARS1	BUD23	EBP	TBCE	GTF2H5	AGXT	SLC29A3	HSPG2	SLC34A2	BAZ1B	ELN	BCL7B	MLXIPL	ERCC2	RNF113A	NOTCH3	NCF1	DVL1	FAM20C	NGLY1	KL	LPIN2	SNX10	EIF4H	MPLKIP	SQSTM1	RBL2	GTF2IRD2	PHEX	LIMK1	MAP3K7	TBXAS1	LRRK1	TMEM53	FKBP6	MC4R	HHAT	RTL1	ANKH	FERMT3	RFC2	RUNX2	GTF2E2	TBL2	TRPS1	TMEM270	SRCAP	CA2	WRN	GTF2I	LRP4	ACP5	TRAPPC2	ERCC6	SGSH	DHCR24	TNFRSF11B	SCARB2	CLIP2	AMER1	HGSNAT	LMNA	STX1A
HP_OSTEOPETROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOPETROSIS	GJA1	CLCN7	MITF	PTDSS1	TNFSF11	CA2	CSF1R	PLEKHM1	SNX10	LRP5	DHCR24	TNFRSF11A	TCIRG1	ANKH	FERMT3	AMER1	OSTM1
HP_HIGH_MYOPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_MYOPIA	ZNF408	COL9A2	KAT5	COL2A1	RPL10	HS6ST2	CPSF1	NDUFB11	COL9A3	PRDM5	P4HA2	ASPH	B4GALT1	CYP1B1	ATP6V1E1	FBN1	NYX	SLC39A5	COX7B	IPO8	EFEMP1	TBC1D24	ATP6V0A2	RIN2	POLR3B	MAF	TTLL5	MYOC	NDP	PAK2	CRIPT	CYP4V2	NMNAT1	LAMB2	LRP2	DPH5	ELOVL4	ASXL1	TGFBI	ATP6V1A	RAB28	DOHH	COL18A1	SLITRK6	TTC8	BAP1	COL11A1	CNGB3	ZNF469	P3H2	RP2	LOXL3	LTBP2	SMS	PDE6H	ARR3	LRPAP1	RPGR	COL9A1	HERC1	SCO2	ADAMTSL4	POMGNT1	NFIX	GLRA2	GZF1	FGFR3	EFL1	ERBB3	POC1B	IRX5	DAG1	ADAMTS10	ZNF644	VPS50	PAX2	HCCS
HP_ABNORMAL_SYSTEMIC_ARTERIAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SYSTEMIC_ARTERIAL_MORPHOLOGY	PIGN	FGF8	CHRNG	DLL1	GJA1	SEMA3E	SLC20A2	FANCB	VPS37D	ABCD4	CTCF	SDHD	NDE1	FOXE3	UBE2T	CYP1B1	IDS	LIPA	FBN1	TMTC3	UBA1	CASZ1	IPO8	RNASEH2C	TMEM67	TUBG1	TPM2	PTPN11	SETD2	MT-CO3	TGFB2	MT-ND6	KRAS	PLOD1	RPS24	MAX	THPO	ENPP1	NPC2	BRCC3	SMAD2	SPECC1L	HSPG2	RET	RPS27	ATP2B1	CELA2A	GLI3	GP1BB	MAT2A	ADA2	ARFGEF2	SOS2	APP	ZIC3	RPS28	ZEB2	TGFBR2	WAC	ZMPSTE24	RREB1	TBX20	ENG	NKAP	MMP21	SKI	THSD1	DIS3L2	PNPLA2	MYH11	WT1	PALB2	PKD1	RNASEH2B	RPS29	CREBBP	SMAD6	LZTR1	NPR3	MLXIPL	ALMS1	BRCA2	BEST1	NADSYN1	LOX	BMPR2	RPL35A	CSF2RB	GHR	MYH7	TRIP13	MT-ND5	NIPA1	ABCC6	HGD	PDGFB	GALC	TGFBR1	TBX1	ERCC8	RIN2	PRDM16	STAG2	KNSTRN	PGM3	MKS1	GATA6	EHMT1	PTH1R	C12orf57	FKBP6	TGFBR3	RAD51C	ANGPTL6	MPL	HNRNPK	PCNT	DPH5	APC2	HEY2	NEU1	TAB2	MT-ND4L	ABCA1	PDPN	MAD2L2	ATN1	KIF1B	SMARCAL1	WRN	CHD7	FANCA	MMP14	ATP6V1A	NEK9	APOB	SLC2A10	CEP19	LRP5	RNF213	CLIP2	BRIP1	SUPT16H	AEBP1	CDH2	KANSL1	ERCC3	PTEN	TRRAP	ARF1	RFWD3	NKX2-5	MID1	LMNA	ROR2	ZNF148	GAS1	PPP1CB	SRY	HCCS	VHL	GATA5	GNA11	ASAH1	MYCN	BUB3	DNAH1	SPTBN1	FOXF1	KDM6A	GABRD	CSF2RA	GNB2	RPL26	IL12B	MEIS2	MLX	COL3A1	KMT2D	IGFBP7	ATP7A	FBLN5	CRELD1	DOHH	MYLK	BRCA1	FARSB	UBE3B	SMAD4	NSD1	HTRA1	DGCR8	DNMT3A	FGFR1	CTSA	TGDS	MAP1B	NIPA2	ADAMTSL1	PSAP	PAH	PTPN22	NFIA	RPS19	MT-ND1	LSM11	STIL	COL5A1	MMP23B	COL4A1	HEXB	ELN	TGIF1	VAC14	COMT	BAZ1B	RPS15A	AFF4	SDHB	ZNF687	MT-CYB	GANAB	CDK8	FLNB	DNAJB11	EP300	NOTCH3	SEC24C	TRAF7	ABCG5	SMPD1	FLI1	SMAD3	SON	ABCG8	EIF4H	COX7B	WDR26	B3GALT6	MT-ND4	GLB1	APOA1	GBA1	ERCC4	NT5E	MCTP2	CAT	MFAP5	NXN	DNAH9	GJA8	ERMARD	AGXT	CARS1	THSD4	PDGFRB	GDF1	SMARCA2	KCNH1	SRCAP	PRKG1	BRAF	NR2F2	LDLRAP1	PUF60	MYH3	HLA-B	COL1A2	PRKAR1A	GLI2	P4HA2	ZIC2	RPS7	APOA2	ANTXR1	GPIHBP1	BUB1	AMER1	FANCC	TMEM260	PLXND1	NEK1	PPARG	TULP1	BGN	PKD2	STAT1	RPS26	ALDH18A1	MAP3K7	MEG3	RNU7-1	LTBP1	ERCC6	SPEN	ACTA2	GATA1	METTL27	HYOU1	SMG9	XYLT1	APOE	MYRF	TONSL	TBX5	SIX3	HLA-DRB1	GTF2IRD1	BUB1B	YY1	TMEM231	CEP57	CHD4	ADK	IFNG	RPL15	DGCR6	PKD1L1	XYLT2	CDON	JAG1	CFAP53	RPL11	FBN2	NDP	SLC34A2	FLNA	BCL7B	ADAMTS19	ERCC5	COL1A1	RPL27	ACVR2B	FOXH1	NDUFB11	NCF1	TKT	PTCH1	GGCX	CRKL	DHCR7	EFEMP2	BRF1	HES7	JAK2	TDGF1	LUZP1	TALDO1	MYOC	PIK3CD	NKX2-6	RFC2	ABL1	FANCD2	RPS10	GUCY1A1	MED12	DDX6	TBL2	GEMIN4	TGFB3	PPFIBP1	FGFR2	ALG3	EPHX2	GM2A	GTF2I	PIK3R2	IFIH1	FANCI	F12	YY1AP1	MT-ATP6	KCNAB2	PRPF3	TREX1	ALDH1A2	DYRK1B	MAPK1	RPL18	SERPIND1	STRA6	XRCC2	LRP6	RPL31	STX1A	CYP7A1	DARS1	RPL5	SHH	NOD2	PIK3CG	DNAJC30	MYPN	FKBP14	ESS2	GATA4	DGCR2	NEDD4L	GAA	RERE	COL5A2	DCDC2	BCR	RNASEH2A	FIG4	HIRA	FLT4	ANAPC7	PRKCZ	LDLR	PLD1	PPP2R1A	SUCLG1	RBM8A	DLK1	TSR2	ARVCF	NSMCE2	CHST3	FANCF	HDAC4	ROBO4	SF3B2	RAI1	BUD23	APOA5	TSC1	POU3F4	MMP2	SELENOI	NOTCH1	SLC25A24	ALG5	FZD4	ARL6IP6	MAP2K1	CPLANE1	RPS20	LCAT	PPP1R17	TNXB	DYNC2LI1	GJA5	CYP27A1	ESR1	NF1	FANCM	SLX4	UBE4B	BCOR	NPC1	TTC26	EFEMP1	PLOD3	TSC2	GTF2IRD2	LIMK1	NODAL	FANCL	NRAS	RPS17	RTL1	LEMD3	MT-ND2	DISP1	SAMHD1	TMEM127	ADAR	TOM1	TMEM270	FMR1	EMILIN1	BICC1	ERCC2	RPL35	JMJD1C	PDE11A	PGM1	B3GAT3	FANCE	RNU4ATAC	FANCG	CIROP	LIPC	IFT140	ALG9	HRAS	WDPCP	LMX1B	UNC45B	HOXA1	RAD51	PCSK9	TPM3	UFD1	SC5D
HP_ABNORMAL_MORPHOLOGY_OF_THE_MUSCULATURE_OF_THE_NECK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_THE_MUSCULATURE_OF_THE_NECK	COL6A3	SOX10	PRKAR1B	PCGF2	GDAP2	CACNA1A	SPTBN1	TBP	CP	NAXE	THAP1	COL12A1	PRDX3	ATP1A3	TOR1A	MEOX1	RNF170	ANO3	GNAL	COX20	SPG11	TGM6	KCNC3	KMT2B	NKX6-2	ITGA7	FLI1	CDK10	PRKRA	ATP13A2	COL6A1	GCH1	MAPT	GDF6	NR4A2	CNP	KCTD17	SYNGAP1	ALS2	HPCA	SGCE	COL6A2	ZNF142	HK1	MYF5	ACTA1	KIF1C	PRRT2	SCP2	SPTLC1	DRD2	B3GALT6	NAA10	TGFB2	PNKD	PPP2R5D	FUS	VPS16	ROBO3	KCNN2	TUBB4A	DDC	TRPV4	TUBB3	CEP85L	NEK9	SIGMAR1	IMPDH2	ALG9	SUPT16H	GDF3	COLEC11	VPS11	CIZ1
HP_TEMPORAL_PATTERN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TEMPORAL_PATTERN	ATXN8OS	ATL1	MAPT	NR4A2	SNCA	OPA1	ATXN2	BCKDHA	EIF4G1	MPZ	TBP	ADH1C	WASHC5	BCKDHB	PMP22	PTH	GLUD2	SMC1A	DBT	SPAST	NIPA1	MT-TT	ADORA2A	SNCAIP	GBA1
HP_ABNORMAL_CIRCULATING_CARBOHYDRATE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_CARBOHYDRATE_CONCENTRATION	GALK1	MT-TF	NDUFB10	NDUFS4	NDUFAF2	NDUFS3	SLC25A13	PC	MT-TK	NDUFS7	PDHA1	NDUFS2	TKT	NDUFAF8	NDUFAF5	NDUFV1	RPIA	GALM	IL6	COX6A2	KARS1	SCO2	NDUFA11	ACAT2	NDUFA6	MT-ND1	NDUFA1	MT-ND3	PNPLA8	TIMMDC1	AIFM1	PDHX	PITRM1	COX10	DLD	FOXRED1	MECP2	TMEM126B	NDUFS6	NDUFAF3	BCS1L	MT-TL1	GALE	SORD	NDUFV2	NDUFS8	UQCRC2	POLG	LDHA	MT-TP	NDUFB9	COX16	DCXR	NDUFB11	LIPT2	PTPN22	ITPR3	MPC1	NDUFAF4	GALT	SLC25A26	NUBPL	NDUFAF1	TWNK	MT-TI	NDUFS1	MT-ND2	NDUFB3	HNF1A	LONP1	SDHB
HP_ABNORMAL_GLUCOSE_HOMEOSTASIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GLUCOSE_HOMEOSTASIS	FOXP3	MT-ND4	TFG	CIDEC	SPINK1	VPS37D	POU1F1	YARS1	ACAD9	RGR	UQCRB	IDH3A	PRPF4	BRCA1	ZBTB20	LMNA	ZFP57	GJA1	IL6	OTX2	CPT2	SERAC1	STAT6	TERT	ETFA	RNASEH2C	ALDH7A1	SLC25A20	SETD2	MT-TK	HFE	MT-TC	PPARG	TP53	APPL1	SLC7A14	PCARE	CYB561	POMC	ZMPSTE24	DISP1	CNBP	DBH	COX16	IARS2	GPR161	HADHA	CAMKMT	SLC16A1	HYMAI	HNF1A	KCNJ11	POLG	FGF20	HNF1B	FCGR3B	ENPP1	RNASEH2B	POLR3A	SLC3A1	CPT1A	IGF2BP2	ALMS1	ARL3	BCKDHA	LRBA	GYS2	ACADM	USP8	WARS2	PCCA	RP2	MEN1	NFKB2	LEPR	BLK	FBP1	PPP2R5D	GATA6	IGF1	FKBP6	PHKA1	CRB1	NDUFA1	MCCC1	PCK2	DNMT1	SOX3	LHX3	OTC	SLC37A4	NDUFV2	MT-TS2	HBB	MT-TW	EIF2S3	WT1	MPI	PLCD1	MPC1	ABCC8	PIK3R1	NNT	USP48	CAVIN1	MMUT	SPI1	PEX6	NDN	NR2E3	IGKC	DUT	NR1H4	NDUFS4	MT-ND5	SLC25A4	TANGO2	GCK	SNORD115-1	PPM1B	TULP1	FAH	SNRNP200	RET	TTPA	EDA2R	GJB3	LHX4	IGF1R	SEMA4A	KRAS	HESX1	SRP54	MT-TL1	PDE6A	NEUROD1	CLPB	SAMD9	COX10	SLC40A1	FARSB	MCCC2	MADD	GRB10	NRL	GK	KCNJ18	INSR	MEG3	GPC3	CISD2	XRCC4	USH2A	SIX3	MTHFR	WFS1	LSM11	TLR8	GATA3	TRMT10A	MT-TE	COG7	NDUFS1	BAZ1B	BMP2	CCDC28B	ALDOB	BEST1	DGUOK	LMF1	GPC4	SLC1A1	IMPDH1	ETFDH	PRPF8	PRKACA	ELMO2	WRN	PRSS1	EIF4H	DNM1L	DBT	HAMP	EFL1	MT-TF	AIRE	AHI1	MAGEL2	CARS1	KIZ	PHKG2	IGF2	HLA-DRB1	NDUFAF3	RFX6	FGFR1	MRPS2	SLC22A5	NKX2-5	COL2A1	MC2R	YIPF5	GPD2	TOPORS	PCSK1	PDE6B	STUB1	IFT140	PTF1A	GALT	CAV1	MAK	SIM1	AIP	PNPO	SLC2A2	EIF2AK3	POMGNT1	SLC12A3	NR3C1	CERKL	ERCC6	SNRPN	FAM161A	GCDH	CP	ZNRF3	PRKAR1A	GUCA1B	STAT1	MKRN3	HMGA2	LMNB2	SUFU	WDR11	PRSS2	PROP1	AUH	METTL27	HYOU1	PAX6	HLA-DQB1	QRSL1	MT-TH	GREB1L	POLD1	MKKS	INS	IL2RA	BCKDHB	PHKA2	HSD11B1	UCP2	PTPN22	GHR	IRF4	SMPD4	HADH	GLIS3	TFAM	PRPF3	RBP3	IRS1	PMM2	LEMD2	PDE6G	GCGR	PRKAG2	ACADVL	PDX1	PLIN1	VANGL1	BCL7B	GPR35	IFT172	ABCA4	NCF1	TKT	MAPK8IP1	MT-TV	PNPLA2	PPP1R15B	CEL	CDKN2A	RP9	GLI2	BRAF	OFD1	TCF7L2	USB1	PYGL	RABL3	DLD	BBS2	PROM1	SHH	NDUFS8	MLXIPL	NDUFB9	ATP7A	PTCH1	ACAD8	HERC2	DYRK1B	MRPS7	ROBO1	AGL	FGF8	LRP6	BMP6	NDUFB3	OCA2	PTPN1	CACNA1S	TTC7A	PLAGL1	PTRH2	PALB2	NDUFS2	CNGA1	SGPL1	CTRC	RNASEH2A	NDUFAF8	NDUFAF5	ODC1	ZFYVE26	SLC29A3	HSD17B10	ATP5F1D	MT-CO1	AEBP1	MT-ND3	MTO1	FLT1	SBDS	PRCD	KLF11	SOX2	FOCAD	NSMCE2	HNF4A	PALLD	SECISBP2	GATC	BBS1	BUD23	NFS1	ARL2BP	MT-ND2	TYMS	IGFALS	MIA3	CDKN1C	CORIN	SAG	NDUFAF6	SLC5A1	NDUFS3	AGPAT2	MICOS13	ESR1	NSD1	TDGF1	LIPE	PAPPA2	MT-CO2	STAT3	UQCC3	KCTD1	HGSNAT	LEMD3	MC4R	AR	ADA2	DNASE2	SAMHD1	ADAR	ALAS2	FMR1	PEX1	EHHADH	ACAT1	GNAS	MT-CO3	RPGR	SLC52A1	GLUD1	GFRA1	AHR	ACADSB	MT-ND1	PAX4	CYP11A1	FSCN2	NDUFB10	GATB	PC	MT-ND6	DLK1	RTL1	DNAJC3	GATM	CNOT1	PRPF31	ACADS	PEX10	SUCLG1	CTNS	SHPK	RRM2B	CASR	PCCB	EYS	CELA2A	PPP1R3A	HMGCL	UQCRC2	SCO1	PARN	REEP6	PCBD1	NUBPL	DCAF17	SLC30A8	CYP19A1	MTX2	VANGL2	GFM2	ASXL2	ARMC5	NARS2	NDUFS7	NDP	PAK1	IMPG1	CLRN1	CTNNB1	NDUFA11	TXNRD2	AGBL5	CPA1	ARNT2	LIPC	HRAS	CTC1	POLG2	PCNT	APC2	PRPH2	BBS9	RPE65	ETFB	MFN2	RIMS2	FOXP1	NPM1	MMP14	TTC8	CDH23	CEP19	CLIP2	PTEN	DHDDS	MT-TQ	FOXRED1	MT-CYB	PROK2	NDUFAF2	EBP	SPATA7	CIC	OPA1	NEUROG3	PWRN1	BRCA2	MLYCD	NDUFV1	ARHGEF18	WRAP53	PDE8B	PWAR1	PNPLA6	MRAP	ALG12	ZIC2	TMEM126B	CLCNKB	RAC1	FXN	KCNE3	TCF4	ROM1	STAR	WNT9B	CA4	NDUFAF1	ZNF513	RP1L1	RLBP1	BLM	POR	AFF4	ELN	HLA-DQA1	AMACR	AKT2	SCN4A	FUZ	LHX1	IL18BP	FUT8	NOTCH3	KDM6A	ATRX	ATM	KLHL7	CDON	FOXH1	NAA10	BSCL2	CAT	G6PC1	MPV17	RNF125	THRB	NDUFS6	MERTK	NDUFA6	UQCRH	EDA	CRX	MOG	LEP	POLA1	NDUFAF4	GPR101	POGZ	FOXA2	KCNQ1OT1	PET100	COG8	PCK1	TERC	CYC1	RP1	ITCH	H19	IARS1	TGIF1	GLYCTK	FOS	PLPBP	HJV	PRPF6	RNU7-1	MT-ATP6	SCAPER	TUB	DMXL2	RDH12	TWNK	PREPL	IMPG2	PI4KA	MTOR	NHP2	ADCY3	GTF2IRD1	NOP10	NODAL	FBN1	HMGA1	POC1A	SLC34A1	TINF2	SLC19A2	BCS1L	CACNA1C	PROKR2	RTEL1	CPE	LRPPRC	CTDP1	MRPS28	KIAA1549	MMACHC	CFTR	NEK2	APOA5	PSMB8	ABCB4	UBR1	SARS2	CDKN1B	YY1	RFC2	HMGCS2	TBL2	IRS2	GALK1	GTF2I	CDHR1	DOLK	TFE3	ITPR3	SH2B1	TREX1	MTNR1B	CA5A	GH1	PHKB	DLL1	ARL6	KCNQ1	PRORP	STX1A	LRAT	DNAJC30	NPAP1	IFT88	MAFA	HTRA2	IER3IP1	CNGB1	LIG4	PLAG1	SNORD116-1	TBX19	TIMMDC1	TRMT5	PDE11A	GJB4	CFAP418	DKC1	APOE	RETN	FOXC2	PSTPIP1	HERC1	GLI3	PDE4D	MMP2	ZNF408	HSD3B2	MST1	GLRX5	SMAD4	NAB2	DNAJC21	KDSR	GTF2IRD2	LIMK1	MSL3	IFIH1	RHO	IGHG2	IDH3B	STOX1	DHX38	HADHB	TOM1	TMEM270	SEMA4D	ITGA8	SIN3A	PGM1	GAS1	NDUFB11	GHSR	DIS3L2	ACSF3	DNAJC19	NBAS	GABRA3	CYP21A2
HP_ABNORMAL_BLOOD_GLUCOSE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_GLUCOSE_CONCENTRATION	CYP11A1	NDUFB10	IARS2	POU1F1	YARS1	GATB	ACAD9	UQCRB	PC	ZFP57	CPT2	OTX2	SERAC1	STAT6	ETFA	ALDH7A1	GATM	SLC25A20	ACADS	SETD2	MT-ND1	PDX1	HFE	IGF2	APPL1	SUCLG1	CYB561	SHPK	POMC	HNF1A	PCCB	HMGCL	UQCRC2	SCO1	DBH	MEN1	MCCC1	COX16	LHX4	GPR161	HADHA	CAMKMT	SLC16A1	NUBPL	HYMAI	KCNJ11	FGF20	INS	GFM2	SLC3A1	CPT1A	BLK	ASXL2	ARMC5	NARS2	BCKDHA	NDUFS7	PAK1	GYS2	ABCC8	ACADM	WARS2	PCCA	NFKB2	FBP1	PPP2R5D	NDUFA11	TXNRD2	IGF1	PHKA1	NDUFA1	HRAS	PCK2	APC2	ALDOB	BBS9	LHX3	OTC	ETFB	RIMS2	SLC37A4	NDUFV2	EIF2S3	MPC1	PIK3R1	NNT	PTEN	MMUT	LMNA	FOXRED1	MT-CYB	NR1H4	NDUFS4	NDUFAF2	TANGO2	BMP6	GCK	EBP	CIC	PPM1B	FAH	RET	MLYCD	NDUFV1	IL6	HESX1	CDKN1C	CLPB	MRAP	ALG12	NEUROD1	SAMD9	COX10	FARSB	TMEM126B	MCCC2	MADD	NSD1	PROP1	GRB10	GK	KCNJ18	INSR	KCNE3	GPC3	STAR	WNT9B	NDUFAF1	TRMT10A	COG7	POR	NDUFS1	AFF4	SCN4A	DGUOK	FUT8	GPC4	KDM6A	SLC1A1	AKT2	CDON	ETFDH	DBT	G6PC1	MPV17	RNF125	PHKG2	NDUFS6	NDUFAF3	RFX6	MRPS2	NDUFA6	SLC22A5	UQCRH	MC2R	PCSK1	NDUFAF4	POGZ	FOXA2	PTF1A	KCNQ1OT1	GALT	PET100	PNPO	COG8	HADH	PCK1	HNF4A	CYC1	NR3C1	H19	GLYCTK	GCDH	HMGA2	PLPBP	PHKA2	ZMPSTE24	WDR11	SOX3	AUH	HYOU1	DMXL2	PLAGL1	QRSL1	PREPL	MTOR	GREB1L	BCKDHB	UCP2	PTPN22	GHR	SLC34A1	TFAM	PAX4	BCS1L	CACNA1C	PRKAG2	ACADVL	LRPPRC	CTDP1	MRPS28	MMACHC	PPP1R15B	CEL	GLI2	YY1	HMGCS2	PYGL	DLD	GALK1	NDUFS8	DOLK	NDUFB9	TFE3	ATP7A	ITPR3	ACAD8	PPARG	DYRK1B	MRPS7	CA5A	ROBO1	GH1	AGL	PHKB	KCNQ1	PRORP	NDUFB3	CACNA1S	GATA6	NDUFS2	STAT3	HTRA2	SGPL1	NDUFAF8	NDUFAF5	GLUD1	ODC1	HSD17B10	PLAG1	ATP5F1D	TBX19	MT-ND3	TIMMDC1	MTO1	PROKR2	KLF11	SECISBP2	GATC	HERC1	SLC2A2	NFS1	GLI3	HSD3B2	MT-ND2	NDUFAF6	NDUFS3	GJA1	MICOS13	NAB2	UQCC3	MSL3	HADHB	ITGA8	EHHADH	PGM1	NDUFB11	GHSR	ACAT1	ACSF3	SLC52A1	GFRA1	DNAJC19	ACADSB	NBAS	GABRA3	CYP21A2
HP_ABNORMALITY_OF_CIRCULATING_ENZYME_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CIRCULATING_ENZYME_LEVEL	STIM1	CHCHD10	TFG	TNNC1	FKRP	FHL1	MYOT	VPS37D	VCP	GATB	ACAD9	MTMR14	ABCC9	POMT1	LRP12	DPM3	MYL2	CPT2	FKTN	DES	FHL2	B3GALNT2	TK2	ACTA1	B4GAT1	SLC25A20	NARS2	SGCG	UBA1	DNA2	CCDC115	ACTN2	RRM2B	DPM2	PLEKHG5	VMA21	PLA2G6	FAM111B	TIMM22	LIMS2	TPM2	CNBP	DMD	SMCHD1	FLNC	COX16	DYSF	COL6A1	POMK	CASQ1	CFL2	SUOX	DAG1	ANKRD1	POMT2	MT-TN	PNPLA2	POLG	DPM1	HSPG2	TWNK	COL6A2	SGCD	JAG2	MYH7	KBTBD13	MLXIPL	LARGE1	SCN5A	NSUN2	TOR1AIP1	GIPC1	FDX2	TMPO	FRG1	ERGIC1	XK	LMNA	LTBP4	GMPPB	FKBP6	BVES	PHKA1	MGME1	LDB3	HNRNPA2B1	MYPN	ABHD5	POLG2	POMGNT1	COL12A1	PYGM	CAPN3	DOK7	TMTC3	TTN	HNRNPDL	ANO5	COL4A1	INPP5K	COL6A3	RNASEH1	GOSR2	SLC30A9	SCN4A	POMGNT2	CLIP2	BICD2	USB1	PLEC	BAG3	GATAD1	GYG1	TMEM165	MT-TE	LAMA2	TPM1	CAVIN1	RXYLT1	CRPPA	COA7	MYH14	DHX16	SLC25A4	TANGO2	ADSS1	SQSTM1	MPV17	PRUNE1	ISCU	COQ2	CAV3	DSG2	COX20	TNNI3	PRDM16	KLHL9	PGAM2	BAG5	COL9A3	CRYAB	ITGA7	SGCB	TNNT2	ENO3	KCNJ18	KCNE3	LPIN1	DSP	PIGY	TCAP	SDHA	B4GALT1	MT-TL1	CPT1A	SYNE1	COG7	BAZ1B	ELN	SVIL	RYR1	OCRL	AMACR	GGPS1	NEB	TIA1	MICU1	APTX	PIEZO2	POGLUT1	SQOR	EIF4H	SIL1	MLIP	DGUOK	PPCS	COL25A1	NEFL	LAMA4	CSRP3	AGXT	PITRM1	PHKG2	SLC22A5	DNM2	PSEN1	HINT1	RBM20	TRAPPC11	KCNA1	SLC25A42	MPDU1	PET100	EMD	TRMU	SUCLA2	ACTC1	GNE	MATR3	CAP2	POLRMT	TMEM43	QRICH1	C19orf12	MYMK	PHKA2	MT-CO3	TRIM32	SYNE2	MSTO1	METTL27	TAF1A	SGCA	QRSL1	TRPV4	NEFH	PABPN1	GTF2IRD1	DCXR	UQCRFS1	HADH	ADK	VPS13A	ACADVL	HEXB	KY	ACADM	BCL7B	MIEF2	SETX	NCF1	FKBP14	MYH6	TRIP4	AP5Z1	PLN	TBCD	AIFM1	DNMT3B	ALG2	AHCY	RFC2	COG8	RBCK1	TBL2	PDK3	CHKB	DNAJB6	GTF2I	MYBPC3	NOTCH2NLC	ISCA1	AR	GAA	DMGDH	BIN1	AGL	EPG5	HHAT	TXNRD2	STX1A	HNRNPA1	KLHL41	DNAJC30	ITGB4	CACNA1S	SYNJ1	DUX4	MPZ	GFPT1	C1QBP	TSFM	AASS	RILPL1	SLC39A14	ATP5F1D	TRAPPC2L	PEX6	PIK3R5	DOLK	LIPE	ALDOA	MT-TL2	FLAD1	POPDC3	LAMA1	GATC	NEXN	COG6	BUD23	NFS1	PYROXD1	DPAGT1	TAFAZZIN	LDHA	PSEN2	SUGCT	HADHA	VCL	MYF6	MVK	SLC16A1	SCYL2	PLXNA1	TPM3	GTF2IRD2	LIMK1	LAMP2	LMOD3	ANXA11	TMEM270	HAND2	PGM1	PHKB	OTUD5	ALG14	ORAI1	RAF1	HADHB	CA2	MT-CO1	GABRA3
HP_APLASIA_HYPOPLASIA_OF_THE_VAGINA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_VAGINA	DMRT3	PAX3	WNT4	WT1	ZFPM2	B3GLCT	GATA4	GLI3	NR0B1	SOX9	CYP17A1	CYP11B1	SRY	CYB5A	GATA3	PPP2R1A	VAMP7	IRF6	NR5A1	WWOX	MAP3K1	DHX37
HP_ABNORMAL_FALLOPIAN_TUBE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FALLOPIAN_TUBE_MORPHOLOGY	FANCB	DHH	COX7B	TP53	RAD51D	RAD51C	KIF7	PALB2	HCCS	PTEN	BARD1	RAD51	AR	MRE11	CHEK2	BRIP1	NDUFB11	RAD50	WNT4	DCAF17	HYLS1	BRCA1	WT1	BRCA2	NBN	PLG	WNT3
HP_ABNORMALITY_OF_BLOOD_CIRCULATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_BLOOD_CIRCULATION	PMS1	EOGT	F13A1	CYP11B1	CYP11A1	SDHB	IRF2BP2	ITGA2B	WIPF1	SMARCE1	PROS1	ACAD9	CTCF	SDHD	NDE1	TREX1	APC	FOXE3	FIP1L1	SMAD4	CITED2	VHL	TET2	ATOH7	JAK2	ITGA2	DOCK8	IPO8	TLR4	DNMT3A	F8	PDX1	TGFB2	AVPR2	MAX	CFH	FZD4	CDKN1B	ENPP1	TSC2	IFIH1	BRCC3	DZIP1L	ASXL1	ATP6V1A	CYP26C1	STAT5B	RET	MSH2	GP1BB	MAT2A	FH	KCNJ5	APP	FCGR2C	SMO	FBN1	ZEB2	DOCK6	RREB1	ENG	GP9	FGG	THSD1	PCCB	CTNNB1	CFHR1	PDCD10	SPARC	BEST1	LRP5	CALR	LBR	LOX	SLC25A13	NOTCH1	PRTN3	DST	VWF	ABCC6	BAP1	TGFBR1	PDGFRA	ERCC8	TBX1	HPS1	HLA-DPB1	IKZF1	TGFBR3	ACTC1	CST3	ANGPTL6	SERPINE1	GFI1B	WAS	HEY2	ALDOB	NF2	KIF1B	PCCA	SLC35A1	KIT	BCOR	PTEN	SDHA	MMUT	ATRX	IL12A-AS1	EIF2AK4	GATA4	TGFBR2	LMNA	TEK	PML	CASP10	RHBDF2	GATA6	SREBF1	IKBKG	F5	FAH	FOXF1	ATP7A	MYH11	GP1BA	TMEM127	HLA-B	SMARCB1	MDH2	CCM2	SF3B1	COL3A1	RANBP2	F7	CAPN5	CYP11B2	SAMD9	GNA11	MYC	TSPAN12	RBPJ	ARHGAP31	SLC25A11	BMPR1A	EPAS1	STAT3	F9	MPL	CISD2	RB1	FN1	MSH6	NFIA	SP110	COL4A1	F10	PRF1	COMT	SERPINF2	PKHD1	AMACR	MPI	F2	CACNA1D	NOTCH3	SEC24C	GNAQ	TRAF7	SMAD3	DAXX	GBA1	NLRC4	ADA2	SEMA4A	MFAP5	CBS	KLRC4	LAMB2	CDKN1A	SLC7A7	PLVAP	GGCX	PRKG1	MEN1	MYD88	HLA-DPA1	CFI	NUMA1	THOC6	SRSF2	PET100	DLST	PLAU	FGA	TBX20	HMOX1	GATA2	GCDH	IL10	F11	STN1	RACGAP1	F13B	ZNF408	PROC	DNM2	MVK	SLCO2A1	ERCC6	DLL4	XYLT1	ACTA2	STAT4	HPGD	AQP2	EFEMP1	STK11	FAN1	GDF2	TNFRSF1A	CPT2	SH2B3	STX3	IRF4	IFNG	TERC	KRAS	PMM2	XYLT2	PDGFB	CDKN2B	NDP	PRKAR1A	DPAGT1	CTLA4	FLNA	ERAP1	ACVRL1	PLOD1	ALPL	MMACHC	COL4A2	TLL1	RS1	MLH1	IFNGR1	AKT1	NKX2-5	KIF23	SNORD118	RBCK1	PIK3CA	KRIT1	LMAN1	NF1	CD46	SMAD2	CYP7B1	TERT	MED12	SDHC	RASA1	RARA	TAOK1	FGB	TTC7A	CDKN2C	PRKCSH	STAT2	ITGB3	FSHR	KCNJ11	GAA	ATP6V1E1	NABP1	MYLK	ZBTB16	APOE	HIRA	ABCC8	IL10RA	TSC1	C4A	IL12A	LMBRD1	IL23R	ARVCF	MEFV	PUF60	NPM1	HELLPAR	AGGF1	MCFD2	ZMPSTE24	EPCAM	RPS20	CTC1	CYSLTR2	CD109	GCK	IVD	TGFB3	TNXB	STT3A	WFS1	PMS2	HMCN1	MYH6	CCR1	RNF168	SUFU	KANSL1	TTC26	SBDS	CTNS	HSD3B7	ATP6V0A2	DHPS	ZNFX1	CBL	CFHR3	MLH3	ARPC1B	RUNX1	INS	LMOD2	SEC63	SIN3A	JMJD1C	COPA	UBAC2	USP18	PTPN22	MYO5B	TBL1XR1	GREM1	ELN	UFD1	FAS	SDHAF2	CLCN2
HP_ABNORMAL_BLOOD_TRANSITION_ELEMENT_CATION_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_TRANSITION_ELEMENT_CATION_CONCENTRATION	HBB	ATP6AP1	TMPRSS6	IARS1	BMP6	SLC30A10	HAMP	SPATA5	COG2	AP1B1	PIGA	PKLR	CP	COL7A1	MMP1	AP1S1	SCO2	ABCD3	SKIC3	SLC25A38	RACGAP1	HJV	ATP6V0A2	HFE	KIF23	ALAS2	TRNT1	SLC40A1	SLC33A1	STEAP3	SLC30A2	SKIC2	BCS1L	SLC39A8	FOXP1	ATP7B	SLC39A4	SLC7A7	CARD9	BMP2	TFR2
HP_ABNORMALITY_OF_IRON_HOMEOSTASIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_IRON_HOMEOSTASIS	HBB	TRNT1	SLC40A1	STEAP3	SKIC2	BCS1L	BMP6	COL7A1	SLC30A10	HAMP	FOXP1	PIGA	PKLR	CP	ABCD3	SKIC3	SLC25A38	RACGAP1	HJV	HFE	KIF23	CARD9	ALAS2	BMP2	TFR2
HP_ABNORMALITY_OF_FLUID_REGULATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FLUID_REGULATION	IDH3A	ODC1	COL2A1	VPS37D	MECOM	POU1F1	BAP1	ACAD9	B2M	TREX1	LBR	ZFP57	LTBP4	SPG11	FAT4	TGFBI	ADAMTS3	PTPN11	RMRP	SETD2	TNFRSF11B	HFE	GNPTAB	LMOD3	POMP	FZD4	CDKN1B	IFIH1	CLCNKA	VPS51	SLC26A2	PLG	RASGRP1	ADA2	IL1RN	AVPR2	TAPT1	RHO	RPS28	SMCHD1	XYLT2	COX16	ATP7B	APOA1	HYMAI	POLG	COL1A2	ENG	RPS29	STAG1	LZTR1	TPO	ASS1	CARS2	MYO1E	BCKDHA	RPL35A	PRTN3	TRIP13	LYZ	PIEZO1	FGFR3	ACADM	USP8	PIK3R1	PTPN2	RIN2	KIF11	PTH1R	FKBP6	NPHS1	SLC12A1	VPS33B	ACTC1	RYR1	DNMT1	SULT2B1	RNU7-1	CCND1	NAGA	PAX2	LHX3	ATN1	ACP5	ACTN4	KIF1A	NEK9	MPI	POU4F1	SLC4A1	IL2RA	MMUT	HLA-DRB1	TPRKB	ASL	USP48	USB1	ERBB3	FLT4	NDN	IL12A-AS1	SLC26A3	SDR9C7	LIPN	GATA4	CLCNKB	MYPN	SLC1A3	RAD21	NR1H4	GATA6	SLC25A4	CAMTA1	PKLR	FOXF1	DHX30	PRPF8	ATP1A2	PDE6G	KCTD1	RPL26	RANBP2	FOXG1	FRMD4A	SOX18	RNF13	NUP93	KLHL41	FARSB	TBK1	CBL	CFTR	TNNT2	ACTB	IBA57	MYOF	ABCA12	LRP5	KIAA0586	FLNC	TCF4	ERCC5	RAG1	SCNN1B	CYP24A1	WDR35	TGM1	VAC14	HBA2	BAZ1B	RPS15A	VHL	BMP2	PKHD1	CPT2	NR3C2	BTNL2	MOGS	PRKCD	SPINK5	KCNJ11	NPHS2	HLA-B	BSND	EIF4H	SHANK3	MMAB	GLB1	CD28	NSF	DBT	GBA1	COQ8B	PIK3CA	MAPRE2	IL10	PDSS2	KLRC4	KLF1	PSPH	CD2AP	MAGEL2	SLC22A5	MYD88	TRIP11	DUOX2	APOE	SLC35D1	COL5A1	PLCG2	AIP	ASPRV1	FAS	BUB1	EIF2AK3	GRHL2	TMEM260	DNASE1L3	BRD4	GRIP1	PLXND1	ERCC6	CPSF3	SNRPN	GATA2	ABCC8	ANLN	TSHB	DOK7	ANKH	TGFB1	PRSS1	IL6	KIT	HAVCR2	GNAQ	CPS1	GATA1	RRAS2	METTL27	CD244	TSHR	STAT4	QRSL1	INPPL1	NDUFS4	GLA	ARHGEF18	AQP2	CDK5	KCNN4	ARHGDIA	TNFRSF1A	BUB1B	BCKDHB	TNFRSF1B	PTPRO	MRAS	IRF4	IFT80	UROS	CLMP	FOXC2	PMM2	SNX14	PTPN22	PRKAG2	MAP2K2	OTC	DPAGT1	CRB2	ERAP1	HS3ST6	NUP37	STX11	TICAM1	BCL7B	GPR35	NCF1	KIF20A	SPINK1	INF2	CYP4V2	COL8A2	ANKFY1	IFNGR1	SLC4A11	NKX2-5	NKX2-6	NR0B1	AHCY	SPP1	FASLG	KRAS	CD46	NOS3	GPC6	TUBB	BMPER	CCDC88A	COL1A1	ACAD8	PIGN	NEU1	CACNA1A	PHGDH	RPL18	CDKN2C	GSN	ASAH1	RPL31	OCA2	NDP	LPIN2	FSHR	HNRNPK	IKBKG	DUX4	ACAT1	FGB	PLAA	PLAGL1	GAA	NAXE	CD55	B4GALT1	SGPL1	CTRC	OSGEP	ANTXR2	LAMB3	MKKS	EPB41	PERCC1	SLC29A3	DYSF	SLC25A13	TSC1	BRAF	C4A	MRPS22	POMGNT1	PLD1	EGFR	CYBB	IL23R	RAG2	FOCAD	MEFV	PTEN	ALG9	HELLPAR	NFKBIL1	SLC35C1	NR3C1	AGGF1	GATC	BUD23	NUP107	NEK1	CD79B	ALOXE3	GCK	NIPAL4	RAF1	DSP	NOD2	PLCE1	MYBPC3	MAP2K1	RPS20	NDUFAF6	SLC5A1	HESX1	SCNN1A	ALG8	TTC26	CTNS	PIGA	RPS17	DEF6	DHPS	ZNFX1	NLRP3	SCN5A	EHHADH	LAMA3	IGLL1	ANAPC1	JAG1	NUP133	F8	USP18	MYO5B	SPTB	TP53	GUSB	RASA1	CYP11A1	MYLK	SLC40A1	HSPG2	GATB	KRT2	KNG1	GLE1	ZEB1	SMAD4	CITED2	RIT1	EPHB4	CYP11B2	COL11A1	TCF3	PRF1	GATM	TLR4	CYBC1	DYNC2I1	PDX1	KCNQ2	RPS24	CFH	IFT140	TSC2	RRM2B	DHCR7	RPS27	PBX1	HMGCL	CHEK2	RECQL4	AGBL1	ALOX12B	KAT6A	KCNJ1	RRAS	WT1	SMC1A	EPCAM	DIS3L2	PCCB	CTNNB1	FCGR2A	MED12L	ALG12	DDR2	IGHM	DYNC2H1	MLXIPL	NARS2	TXNDC15	IYD	MAGI2	DHDDS	NUP205	KNSTRN	HLA-DPB1	TEK	OVOL2	FLNB	DUOXA2	APC2	GJC2	ADAMTS2	CDC42	MDFIC	LACC1	PCCA	NR2E3	TRPC6	CDH23	SCARB2	CLIP2	FIG4	RELN	FRG1	ZNHIT3	EIF2AK4	ALB	ENPP1	MT-CYB	TNNI3	BUB3	BMP6	CSGALNACT1	SPTBN1	NOS1AP	BLNK	NEUROG3	UROD	NRAS	ADA	GNB2	TG	ABCC6	CALCRL	CLPB	FGA	DOHH	SERPING1	BCL6	NSD1	TSPAN12	SMS	FGG	CPN1	FN1	TRAF3	ATP6V0A4	RPS19	ADARB1	ITK	MGAT2	UNC45A	TMPRSS15	RP1L1	ELN	IGSF3	XPNPEP2	AKT1	PSAT1	PTPN14	IRAK1	ATRX	RB1	SCNN1G	PRPF31	MCEE	COQ2	DCHS1	CCN6	NAA10	NDUFB10	MCM10	SLC5A2	LAMB2	CDKN1A	OCRL	GYPC	PLVAP	MEN1	LYST	ACSF3	HLA-DPA1	PRPH2	RDH5	GPR101	RPS7	SOS1	UNC93B1	ANTXR1	CD247	CYC1	TBX20	PRSS2	CYP4F22	WNT7A	CTLA4	F12	RPS26	PRKAR1A	HPGD	CCBE1	ZNF408	IL7R	SLCO2A1	LCT	TBC1D8B	KLHL40	FECH	HDAC8	KLHL7	CIITA	ATP1A3	ANGPT2	GTF2IRD1	DBH	STX3	CHD7	PSMB9	MMAA	EBP	TWNK	SLC34A1	SUMF1	RPL15	VEGFC	IL2RG	MYL11	RPL11	CDKN2B	MAPK1	ACTG1	SLC34A2	RHD	CHRND	MRPS28	MMACHC	ANGPT1	CA12	TLL1	RPL27	EMP2	GAPVD1	ANKRD55	HLA-A	LAMA2	APOL1	ALPK3	SYK	ABCA3	TALDO1	UBR1	DNMT3B	NEB	PIK3CD	HGD	KIAA1549	MRPS16	RFC2	RPS10	TBL2	TRIM37	PRRT2	IL2RB	SPTA1	CDH11	BLTP1	CFI	CHRNG	GTF2I	DYNC2I2	TRAPPC2	CTSA	PROP1	SLC22A4	PSMG2	PEX2	KRT13	STX1A	RPL5	SLC17A5	DNAJC30	BCL2	KPTN	CEP57	STAT3	COL5A2	LHX4	TLR3	MFRP	CAV1	ACTA1	ARL3	AK2	COL4A3	IL12A	RBM8A	SOS2	TSR2	CDAN1	LIG4	SMC3	ALG14	SPRED2	COG6	SLC5A5	RASA2	AGXT	HSD3B2	LRRC8A	VSX1	IVD	RLBP1	MST1	HADHA	MYH6	NUP85	LAMC2	CCR1	DCLRE1C	MVK	NRL	HBA1	GBE1	NIPBL	PEX5	CASP10	ABCC9	PSMB4	ALG1	GTF2IRD2	LIMK1	KIF7	OTULIN	LEMD3	MIF	TMEM270	INS	SEMA4D	TIE1	CHRNA1	RPL35	POLG2	REEP6	NUP160	UBAC2	CELSR1	SFTPB	SFTPC	HADHB	HRAS	NAXD	BMPR1A	ARHGAP24	RP9	CD79A	SCN1A	DAAM2
HP_AMYLOIDOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMYLOIDOSIS	NLRP3	RET	ITM2B	IL31RA	OSMR	PSEN2	POLA1	B2M	KIT	APP	LYZ	COL7A1	MMP1	TET2	TNFRSF1A	NLRP1	APOA1	SAA1	CST3	MEFV	PRNP	CCND1	TTR	SLC7A7	SRSF2	GSN	ASXL1	LIG4	APOE	FGA
HP_ABNORMAL_RENAL_CORTEX_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_CORTEX_MORPHOLOGY	FOXP3	DNASE1L3	FCGR2B	CEP290	MT-ND4	SDHB	WDR4	WIPF1	TP53RK	NPHP4	LMX1B	ITGA3	TREX1	ANLN	IL10	C1QA	VHL	ZNF699	MYOCD	LMNB2	ETFA	MT-ND1	TMEM67	SLC41A1	TLR4	DNMT3A	MT-TK	DNASE1	NARS2	TBC1D8B	APOL1	IFT140	MT-ND5	RET	DZIP1L	CLCN7	STAT4	COQ7	TRIM8	NUP85	GLA	RASGRP1	MT-TH	LMNA	MT-TL1	AVIL	FH	NPHS2	H4C3	MPDU1	BSND	ARHGDIA	PTPRO	NUP133	KCNJ1	WT1	MAX	XPNPEP3	PEX1	CD96	JAG1	VPS33A	SCARB2	HNF1B	CTLA4	CRB2	NEK8	PIGQ	CLCN5	ERAP1	NUP37	COL4A3	SOX18	MMACHC	MTX2	MYO1E	GON7	EMP2	PRTN3	LAMA5	COL7A1	GAPVD1	SOCS1	SPRY2	MAGI2	INF2	ANKFY1	IFNGR1	NUP205	MME	PGM3	HLA-DPB1	NPHP3	NPHS1	SLC12A1	VPS33B	KIAA0586	MT-ND6	REN	PTPN22	FASLG	WAS	RNU7-1	LAGE3	SKIC3	MT-ATP6	CSPP1	PAX2	NF1	IGF2	FN1	WDR73	ETFB	NUP107	CD81	SMARCAL1	ACTN4	TRPC6	COQ6	YRDC	MT-TS2	SDHD	TPRKB	CFHR5	SLC37A4	PEX2	SDHA	DGKE	KCNQ1	IL12A-AS1	MT-TQ	NUP160	WDR19	TULP3	COL4A5	ITGB4	AMMECR1	ALMS1	DHX16	MT-ND2	MT-TE	FAH	C4A	NOS1AP	DCDC2	NIPBL	SGPL1	FAS	OSGEP	ADA	PDCD6IP	TMEM127	HLA-B	COQ2	PRKCD	MDH2	FCGR2A	MT-CO1	CFI	CDKN1C	IL12A	NPHP1	NUP93	IL23R	PLCE1	CLCNKB	CD151	MEFV	COQ8B	SDHC	IFNG	SLC25A11	COL4A4	EPAS1	FOXC2	KANK2	CD2AP	KIF1B	SEC61A1	MT-TV	KIRREL1	SLC7A7	GATA3	C1QC	DAAM2	PKHD1	PBX1	MMP1	CCR1	LPIN2	ETFDH	MT-CO2	MT-TW	MTRR	CASP10	NAA10	ZNFX1	G6PC1	MT-TF	DNASE2	KLRC4	LAMB2	MT-ND3	OCRL	CFH	MUC1	JAK1	CEP83	HLA-DPA1	COPA	KCNE5	ELP1	UBAC2	APOE	ZAP70	ACSL4	MT-CO3	USP18	KCNQ1OT1	C1QB	ARHGAP24	PLEC	DLST	INVS	SDHAF2	TSC2	SLC12A3
HP_ABNORMALITY_OF_RENAL_EXCRETION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_RENAL_EXCRETION	PAX2	CFI	NPHP3	FAM20A	NPHP4	SON	KCNJ10	CFHR3	CCN2	SLC12A3	MYH11	CLCNKB	CLDN10	SLC34A1	CFH	CFHR1	CLDN16	IL6	HLA-DRB1	SLC41A1	CAV1	SLC25A20	TMEM67	SARS2	REN	MT-CO3	LZTFL1	THBD	SLC12A1	SLC5A2	GALNT3	DZIP1L	MAGED2	NPHP1	CTNS	CFB	PLVAP	ENPP1	APRT	MUC1	DMP1	PBX1	CCR6	AGT	AVPR2	SLC22A12	CASR	BSND	LPIN1	ACE	AQP2	PTPN22	ITPR3	IRF5	KCNJ1	PKHD1	CLCNKA	CYP24A1	C3	CD46	KCNJ5	RYR1	AGTR1	ATP1A1	MT-CO1	HNF1A
HP_DECREASED_URINE_OUTPUT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_URINE_OUTPUT	PAX2	CFB	CFI	APRT	PBX1	CCR6	AGT	CFHR3	SLC22A12	CCN2	MYH11	LPIN1	ACE	CFH	CFHR1	IRF5	HLA-DRB1	PKHD1	SLC25A20	C3	CAV1	REN	CD46	MT-CO3	THBD	RYR1	AGTR1	MT-CO1	DZIP1L
HP_ABNORMAL_RENAL_TUBULAR_RESORPTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_TUBULAR_RESORPTION	CEP290	FAM20A	CLCNKB	RRM2B	SLC4A4	COA8	SURF1	FAH	POLRMT	PIGA	CTNS	BSND	MT-TN	NPHP1	HNF4A	OCRL	GALNT3	HNF1B	BCS1L	CLCNKA	SLC12A3
HP_ABNORMAL_HELIX_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HELIX_MORPHOLOGY	SEMA3E	CYP4F22	AASS	NSD2	BHLHA9	HS2ST1	FGFR2	HOXA2	GPC4	EP300	PIGY	KRAS	CBL	AMMECR1	PIGV	RRAS2	PIGL	SPOP	TBX1	EDEM3	VPS51	TCTN3	TCF4	GP1BB	LONP1	PTPN11	AFF4	CPT2	ALOX12B	RREB1	DYRK1A	NARS1	RRAS	MRAS	TMEM94	XYLT2	PEX1	TAF1	RIT1	FGFR3	HSPG2	MAP2K2	DSP	CHUK	CREBBP	STEEP1	MAPRE2	ASXL2	BCL11A	SPECC1L	SLC6A8	NDP	PIGN	FBN2	TWIST1	NF1	AGO2	BCOR	SMC1A	EFTUD2	KIAA0586	MED12	SULT2B1	DDX6	CSPP1	TGFB3	IGF2	COL2A1	TRIO	SOS1	FOXP1	EBF3	TGM1	GNB1	SLC25A12	GNAI3	RECQL4	SUPT16H	CDH2	KANSL1	BICRA	MAP1B	TFAP2A	PEX2	KCNQ1	SDR9C7	LIPN	ADAMTSL2	LMNA	FBN1	PPP1CB	JUP	TBX2	PLCB4	PIGB	FREM1	DHX30	FANCB	NIPBL	NR2F1	NRAS	RTTN	CHD7	HIRA	NAA10	H4C5	DOCK7	ZMYND11	SETBP1	BRAF	CDKN1C	AFF2	SALL1	SOS2	TASP1	ARVCF	PYCR1	ABCA12	SMS	SCARF2	GDF11	SPRED2	FN1	RB1	GPC3	SLC26A2	ZMPSTE24	PAH	NFIX	PGAP2	CDK13	ALOXE3	RASA2	NIPAL4	COMT	RAF1	PYCR2	FRAS1	ZMIZ1	SEC24C	LZTR1	RPS23	PBX1	SLC16A2	ACTB	DACT1	BMP2	EDN1	PEX5	PIGW	CPOX	PIGA	PGAP3	PPP2R3C	SCNM1	PIGO	ZNF462	TCF3	CLIC2	SIN3A	JMJD1C	FOXP2	MAP2K1	PIGS	DIS3L2	KCNQ1OT1	AMER1	ASPRV1	UFD1	ACBD5
HP_ABNORMAL_INTRAHEPATIC_BILE_DUCT_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_INTRAHEPATIC_BILE_DUCT_MORPHOLOGY	POU2AF1	SPIB	TMEM67	KIF3B	MED12	RPGRIP1L	DCDC2	TNPO3	MMEL1	AKR1D1	IL12A	WDR19	TCTN3	TTC26	PEX5	ZFYVE19	PEX1	PKHD1	IRF5	PEX2	TNFSF15	CC2D2A	JAG1	VPS33B	INPP5E	IL12RB1	LMBRD1	DZIP1L	LMNA
HP_ABNORMAL_BLOOD_POTASSIUM_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_POTASSIUM_CONCENTRATION	SLC4A1	NR3C1	CYP11B1	CYP11A1	CACNA1S	NUP214	WNK1	KCNJ10	SCNN1B	ZNRF3	COL3A1	SLC12A3	PRKAR1A	CLCNKB	CYP11B2	SCNN1A	CAV3	CALM2	TERT	GATM	SCNN1G	BMPR1A	SLC2A2	MT-CO3	MRAP	MAGED2	CLCNKA	CTNS	NOS1AP	SAMD9	ALDOA	SLC2A1	CUL3	PBX1	SCN10A	INSR	KCNJ5	KCNN4	KCNJ18	NNT	TP53	BSND	KCNE3	LPIN1	SCN4A	KCNJ1	CALM3	ATP6V0A4	STAR	SLC34A1	UNC45A	CTNNB1	HSD3B2	KCNJ2	POR	RYR1	KCNQ1	HSD11B2	PAX2	WNK4	KCNE1	NDUFAF6	CACNA1D	CA12	NR3C2	SLC4A4	CALM1	CLDN10	TXNRD2	DEF6	KCNE2	CDKN2A	FXYD2	SLC12A1	CASR	KLHL3	SCN4B	AKAP9	GEMIN4	ANK2	OCRL	SNTA1	ATP1A1	CACNA1C	MC2R	EHHADH	TBX5	TRDN	CLCN2	SLC30A9	PIEZO1	SERPINA6	SMAD4	ABCB6	CDH23	CYP17A1	AIP	USP8	SCN5A	SLC26A3	KCNH2	MT-CO1	INVS	GABRA3	PKD2
HP_ABNORMAL_CIRCULATING_ADRENOCORTICOTROPIN_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_ADRENOCORTICOTROPIN_CONCENTRATION	NR3C1	CYP11A1	SMARCE1	CDH23	ARMC5	POU1F1	OTX2	MEN1	HESX1	ATRX	PRKACA	USP8	TRAF7	SUFU	LHX4	DAXX	PIK3CA	BAP1	TERT	PDE11A	CYP11B1	SMARCB1	GLI2	AKT1	PDE8B	SOX3	TXNRD2	GNAS	PROP1	MRAP	NFKB2	TP53	PRKAR1A	NF2	LHX3	POR	BRAF	MC2R	SMO	AIP	STAR	NNT	FOXA2	USP48	PDGFB
HP_ABNORMAL_NUMBER_OF_PERMANENT_TEETH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NUMBER_OF_PERMANENT_TEETH	CREBBP	DVL3	RIPK4	SATB2	BMP4	TP63	MSX1	LRP6	EP300	ARHGAP29	NECTIN1	PDGFRA	MESD	RECQL4	GNB2	KCTD1	IRF6	DLX4	RAB23	WNT10A	UBR1	OFD1	WDR35	CDH1	C1R	DLG1	C1S
HP_AGENESIS_OF_MOLAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGENESIS_OF_MOLAR	TCF12	PAX9	WNT10A	SUMO1	EDARADD	AXIN2	TGFA	IRF6	EDA	FGFR1	MSX1	WNT10B	LRP6
HP_ABNORMALITY_OF_DENTAL_STRUCTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_DENTAL_STRUCTURE	KRT14	ADGRV1	PAX9	ARSB	CTSK	VPS37D	CYP27B1	IFT122	LRP4	DEAF1	NHP2	LMNA	CNNM4	EP300	LAMB3	TERT	NDUFB11	FBXO28	PGAP1	TCIRG1	COL17A1	MEGF8	CTNND1	ATP6V1A	COL7A1	DHCR7	SFRP4	FAM111A	SEC24D	ATP6V0A2	GP1BB	MYO7A	LONP1	SMARCA2	ESPN	NOP10	ITGA6	MBTPS2	RECQL4	ERCC4	GJA1	RREB1	CCDC8	PARN	OBSL1	PCNT	COX4I2	SLC29A3	KCNJ2	CREBBP	HLA-DQB1	FERMT1	MLXIPL	SMCHD1	TP63	FGFR3	ORAI1	TINF2	TRAF3IP2	ERCC8	PTCH1	FGF10	TBX1	LAMA3	SCUBE3	DSPP	GNAS	FKBP6	AGA	FLII	AXIN2	TBCE	RUNX2	CTC1	DPH5	GTF2E2	IFT43	EDARADD	DLX3	SLC37A4	NPM1	LRP6	RAI1	ATR	PDE4D	CLIP2	USH1G	USB1	ERCC6	TGFA	PEX6	P4HB	TMEM165	SOX9	CLDN19	ODAPH	ENAM	SNORD115-1	KIF7	CCN2	UROD	PWRN1	ENPP1	NF1	GNB2	COL1A2	WRAP53	POLR1D	AMTN	CAV1	TCOF1	PWAR1	EDAR	SRP54	FGFR1	KRT5	OFD1	PLEC	UBE3B	DMP1	MPLKIP	ITGB4	SGMS2	IRF5	KLK4	TRMT10A	VAC14	COMT	BAZ1B	PHEX	PAX1	ELN	HLA-DQA1	FAM20A	AKT1	AMBN	RBM28	SLC35A2	SEC24C	APC	WHRN	PCDH15	SUMO1	ATRIP	ALDH3A2	ELMO2	MAGEL2	FLNB	EIF4H	PKP1	NTRK1	B3GALT6	CLDN1	IL17RA	HLA-DRB1	ERCC1	PAK2	C12orf57	EFL1	RHOA	COG6	AIRE	RBBP8	EDA	OCRL	CLCN7	SRCAP	COL2A1	BRF1	UROS	MMP13	THOC6	FKBP10	PTDSS1	PEPD	WNT10A	COL5A1	COL1A1	SP6	VDR	SMOC2	TERC	IKBKG	CEP152	NEK1	TSC1	SHOC2	COL3A1	TRIP11	MKRN3	WNT10B	KCNJ5	POLR1C	ZMPSTE24	GPR68	IFT52	METTL27	SATB1	STX16	SLC12A2	FGF3	TGFB1	FAM83H	COX7B	CLEC7A	HCCS	GTF2IRD1	TNFRSF11A	NUP133	WDR35	MMP1	PIK3R1	ALPL	GTF2H5	AP3B1	RTEL1	PPP1CB	BCL7B	MAPRE2	TRAIP	SEC23A	CDH23	NCF1	CDH3	FAM20C	USH1C	MSX1	AMELX	PTCH2	PPP1R15B	IQSEC2	ITGB6	CDH1	UBR1	GALNT3	WDR19	RFC2	ABL1	PPIB	TBL2	GRHL2	TRPS1	PORCN	HRAS	TRIM37	TRPV3	NECTIN1	CDH11	KRAS	GTF2I	IFIH1	DKC1	IL17F	PIK3C2A	HERC2	ZMYM2	TTC7A	CENPE	CENPJ	STX1A	DNAJC30	NPAP1	RELT	CSTB	ERCC3	SLC10A7	PERP	ALMS1	LTBP3	COL5A2	ATP6V1E1	SNRPN	CUL7	FIG4	ZNF469	HIRA	SNORD116-1	GLB1	SLC13A5	WDR72	SBDS	NUP85	TARS1	CCR6	ARVCF	PEX1	FLNA	PTEN	FGFR2	SUFU	ELANE	GATA1	POLR1B	CARS1	BUD23	RAD21	DNAJC21	CIB2	IRX5	TYMS	MIA3	SLC24A4	ERCC2	RNF113A	LIFR	LAMC2	PLK4	GTF2IRD2	LIMK1	NRAS	MMP20	SMARCD2	SERPINH1	IRF6	SCNM1	STIM1	NECTIN4	USH2A	CRLF1	TMEM270	DDX59	JMJD1C	GALNS	CYP2R1	ANAPC1	TNFSF11	ACP4	LMX1B	PDZD7	IL17RC	FGF23	UFD1	ROGDI
HP_MISALIGNMENT_OF_INCISORS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MISALIGNMENT_OF_INCISORS	ALX3	STAG1	TBC1D2B	CHSY1	RNF2	SCUBE3	ATRX	DOCK7	DNMT3A	ABCC9	FREM1	HRAS	TUBGCP2	ANKRD11	GATAD2B
HP_ABNORMAL_INCISOR_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_INCISOR_MORPHOLOGY	CREBBP	TBC1D24	NEK1	GJA1	IKBKG	PAX9	CTCF	EP300	SUMO1	TP63	ABCC9	ARHGAP29	MSX1	NECTIN1	DPH2	WNT10B	LRP6	BRF1	CACNA1I	KCNMA1	FARS2	PURA	CDH1	AXIN2	ST14	IRF6	FGFR1	EVC2	WNT10A	EDA	KCNK9	CHSY1	BMP4	EDARADD	COL11A1	ATR	NHS	FGFR2	DYNC2LI1	CCBE1	PDGFRA	KAT6A	GLI1	ATP6V1B2	CKAP2L	FGF3	DLX4	B3GLCT	VPS13B	GRIA3	TGFA	EVC	PRKACA	DLG1	PRKACB
HP_ABNORMAL_NUMBER_OF_INCISORS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NUMBER_OF_INCISORS	DISP1	NEK1	SHH	PAX9	FGFR1	ZIC2	BLM	TGIF1	STIL	CDC42BPB	MSX1	PLCH1	DLX3	ARHGAP29	WNT10B	PTCH1	DLL1	SUFU	STAG2	CNOT1	IRF6	GAS1	NAA10	NODAL	EVC2	GLI2	CDON	BCOR	EIF4A3	EVC	TDGF1	SIX3	FGF8	ERCC3	EDA	CDH11	NHS	PDGFRA	FOXH1	B3GLCT	MID1	TP63	ANKRD11	RIPK4	SUMO1	NECTIN1	LRP6	DLX4	SMC1A	CDH1	AXIN2	BMP4	EDARADD	SMAD2	WNT10A	TGFA	DLG1
HP_CONICAL_INCISOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONICAL_INCISOR	NEK1	IKBKG	PAX9	BMP4	SUMO1	TP63	EDARADD	ARHGAP29	ATR	MSX1	FGFR2	DYNC2LI1	NECTIN1	WNT10B	CCBE1	PDGFRA	LRP6	KAT6A	GLI1	IRF6	FGF3	DLX4	WNT10A	B3GLCT	CDH1	AXIN2	TGFA	ST14	FGFR1	EVC	PRKACA	DLG1	EVC2	EDA	PRKACB
HP_SUPERNUMERARY_TOOTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPERNUMERARY_TOOTH	AMMECR1	DVL1	DYNC2LI1	CREBBP	RPS23	APC	IL11RA	MSX1	TRPS1	BCOR	TCF12	CCBE1	IRF6	ADAMTS3	OFD1	C2CD3	FAT4	PIGL	DYRK1A	MSX2	ATP6V1B2	NXN	DVL3	FZD2	RUNX2	FGF3	KCNH1	NHS	DHCR7	DDX59	WNT5A	PUF60	CDH11	IL6ST	NECTIN1	KCNN3	KCNE5	EXT1	CAMTA1	POU4F1	RECQL4	ACSL4	SLC37A4	HSPG2	ROR2	KRT14	TP63	EP300
HP_ABNORMALITY_OF_DENTAL_COLOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_DENTAL_COLOR	FAM20A	AMBN	ADGRV1	RELT	SLC13A5	ALMS1	MYO7A	CNNM4	WHRN	KRAS	KCNJ2	GALNS	UROD	UROS	DLX3	ITGB4	GATA1	KCNJ5	ITGB6	HRAS	NRAS	COL17A1	PDZD7	GLB1	ENAM	KRT14	SATB1	USH2A	ROGDI
HP_ABNORMALITY_OF_MOLAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_MOLAR	NEK1	IFT122	PAX9	GJA1	SUMO1	DLX3	DEAF1	TP63	MSX1	WNT10B	IQSEC2	LRP6	BRF1	IFT43	LAMB3	TCF12	WRAP53	TERT	WDR19	FLII	AXIN2	IRF6	GALNT3	FGFR1	USB1	CTC1	EDA	OCRL	FGF3	ADAMTS2	DKC1	IFT52	SMARCAL1	EDARADD	PEX1	NPM1	NHP2	RAI1	NHS	NOP10	PARN	WDR35	TINF2	WNT10A	TGFA	PEX6	RTEL1	TYMS	SMOC2	TERC
HP_ABNORMALITY_OF_CANINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CANINE	FGF3	KDM1A	CHSY1	PAX9	DDX59	WNT10A	APC	SUMO1	EDARADD	AXIN2	TGFA	IRF6	FGFR1	MSX1	WNT10B	EDA	LRP6
HP_IMPACTED_TOOTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPACTED_TOOTH	SH3BP2	ZMPSTE24	HOXD13	CDH11	LMNA	FLNA	PTH1R
HP_INCISOR_MACRODONTIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCISOR_MACRODONTIA	ATP6V1B2	TBC1D24	GJA1	KCNK9	CACNA1I	KCNMA1	CTCF	FARS2	PURA	BRF1	COL11A1	VPS13B	GRIA3	ABCC9
HP_INCREASED_OVERBITE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_OVERBITE	MYMX	SIX1	ALKBH8	RIC1	EYA1	PRR12	ACP4	HIVEP2	SPART	GRB10	EP300
HP_PERIPHERAL_DEMYELINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_DEMYELINATION	LRPPRC	PMP22	SOX10	MMACHC	GALC	MT-ND2	ARSA	MPZ	SPTBN1	LMNB1	FA2H	KIF1C	PRPS1	DNM2	GBF1	NDRG1	SH3TC2	MT-TW	MT-ND1	SURF1	EGR2	GDAP1	MT-TL1	NEFL	PMP2	MT-ND5	PEX16	MT-ND6	ABCA1	MT-ND3	MTTP	PSAP	MT-ATP6	MAT1A	COQ7	PRX	LITAF	UBTF	HK1	MT-ND4	TYROBP	PLP1	SUMF1	SBF2	MOCS1	GCDH	MT-TV	CTDP1	MOCS2	MT-TK	ARHGEF10	FLVCR1
HP_EPILEPTIC_SPASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPILEPTIC_SPASM	PHGDH	TSEN2	ASPA	TUBB2B	GABRA3	NACC1	TSC1	SPATA5	GCDH	CDKL5	ACTL6B	UGDH	KCNQ5	ST3GAL3	PLPBP	PURA	ALDH7A1	MT-ND1	RNU4ATAC	FBXO28	KCNQ2	PPIL1	ARX	MT-ND5	GABBR2	SPATA5L1	GRIN2B	TRIM8	ATP2B1	ALG14	PHACTR1	EEF1A2	SLC25A22	TUBA8	AKT3	PI4KA	ERCC5	MFF	SCN2A	NCDN	PTPN23	GNAO1	IFNG	CELF2	NDUFAF8	GRIN1	MAPK1	DPAGT1	HK1	PSAT1	MMACHC	DMXL2	SLC25A10	RUSC2	SLC19A3	NGLY1	KCNB1	TRAPPC12	TBCD	TSEN54	TUBB3	SMC1A	PIGQ	MACF1	EHMT1	DEPDC5	HDAC4	PIK3CA	CPLX1	MT-ND6	UFSP2	NEUROD2	MT-ATP6	NPRL2	PPFIBP1	ZNF526	GRIN2A	MT-ND4	KIF1A	ALG13	SIK1	GNB1	ALG2	RALGAPA1	CDH2	ZNHIT3	MECP2	ASAH1	TIMM50	KCNA1	DHX16	MT-ND2	KDM4B	SCN1B	ADGRG1	SPTBN1	TANGO2	SRPX2	ATP7A	ATP1A3	VPS53	PRUNE1	GABRB3	CEP85L	ARFGEF1	GRM7	TUBA1A	DOCK7	SLC35A2	SETBP1	SLC1A4	TSEN15	RNF13	DOLK	ATP6V0A1	SMARCA2	CLCN4	PDHA1	CDC40	TSEN34	TUBG1	MT-TV	CNPY3	MTOR	MGAT2	MT-TK	APC2	NEXMIF	SCN8A	LONP1	OGDHL	GUF1	GRIK2	STRADA	WDR45	STXBP1	PLCB1	FBLN1	NTNG1	CASK	KCNC2	MT-TW	NSF	TSC2	NTRK2	MDH2	TBL1XR1	DHX37	SCN1A	PIGA	SPTAN1	MT-TL1	BTD	HIBCH	NPRL3	MT-ND3	PIGP	DCX	COX4I1	GAD1	CDK19	CUL3	SLC1A2	NAXD	D2HGDH	SEPSECS	PAFAH1B1	PNKP	PPP3CA
HP_SPEECH_APRAXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPEECH_APRAXIA	SLC25A15	KANSL1	PRKAR1B	CHD3	DLAT	SRPX2	SH2B1	GALK1	GRIN2A	MED13	CHD1	SPART	SLC6A8	EBF3	NONO	FOXP1	DMPK	FOXP2	SRCAP	RAI1	USP7	TRAPPC11	PURA	STUB1	MAPT	PTEN	PACS1	RNF135	GALT	KDM6B	FRRS1L	POU4F1
HP_INTESTINAL_ATRESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTESTINAL_ATRESIA	PIGN	PPP1R12A	MYCN	BUB3	TGIF1	TTC7A	SON	NDUFB11	TRIP13	FOXF1	CEP57	TDGF1	SPINK5	FANCB	MYH11	FBN2	FLI1	GMPPB	ZNF699	FOXH1	COX7B	SUFU	RTTN	STAG2	RERE	AP1S1	SIN3A	CHRM3	DYRK1A	CAMK2A	CDON	FGFR1	SALL1	ZIC2	PORCN	GLI2	PI4KA	RAD51C	RFX6	FANCF	TCTN3	MIR17HG	DISP1	SHH	CHD7	CFAP45	CENPF	ZIC3	GAS1	ITGA6	BUB1B	SLC25A12	SIX3	PTCH1	NODAL	CLMP	KDM3B	DIS3L2	RFWD3	DLL1	FGF8	BUB1	ITGB4	WBP11	HCCS
HP_ILEAL_ATRESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ILEAL_ATRESIA	DIS3L2	MYH11	PPP1R12A	TTC7A	GMPPB
HP_ABNORMAL_LEFT_VENTRICULAR_OUTFLOW_TRACT_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LEFT_VENTRICULAR_OUTFLOW_TRACT_MORPHOLOGY	GATA5	CAV3	TAB2	ADAMTS19	BUB3	WDPCP	MYH6	SMAD6	FOCAD	TRIP13	CEP57	IFIH1	NKX2-5	ZIC3	BUB1B	MYLK2	MYH7	GNB2	ALG9	PTPN11	HDAC4	FGFR1	NOTCH1	SYT2	ACTC1	BUB1
HP_ABNORMALITY_OF_BLOOD_VOLUME_HOMEOSTASIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_BLOOD_VOLUME_HOMEOSTASIS	FSHR	HEY2	TGFB3	INS	CYP11A1	PRKG1	KCNJ11	AQP2	LOX	SMAD2	MAT2A	FOXE3	STAT3	FBN1	MYLK	STX3	TGFBR1	CTNS	MYO5B	ABCC8	PDX1	MFAP5	TGFB2	AVPR2	ELN	GCK	SMAD4	TGFBR2	ACTA2	SMAD3	MYH11
HP_RECURRENT_SINUSITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_SINUSITIS	MDM4	DNAAF2	BTK	MGP	DNAH5	MCIDAS	ALMS1	CCDC65	NCF4	LRBA	NFKB1	ICOS	STXBP2	TNFRSF13C	GAS2L2	RNF168	COL5A2	IL21R	PSMB8	DNAI2	SASH3	NFKB2	DOCK8	DNAAF4	PRKCD	PIK3CD	WAS	NME8	CFI	HYDIN	ZMYND10	ODAD2	ADA2	DNAAF11	DNAJB13	CD19	DNAAF6	C4B	TMCO1	IVNS1ABP	DNAAF1	ACP5	RAC2	TNFRSF13B	SPAG1	CR2	IRF2BP2	STK36	IL17RA	DNAAF5	RSPH4A	FCGR3A	UNC119	RSPH1	TBX1	USB1	NME5	SPI1	IGHM	NEK10	COL5A1	ODAD1	CFAP298	SH3KBP1	ZNF341	MAGT1	IKBKB
HP_CHRONIC_SINUSITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_SINUSITIS	DNAH9	IGKC	ZMYND10	DNAAF2	CFAP52	SPAG1	DNAJB13	CCDC65	TTC12	FOXJ1	DNAL1	TAP1	DNAAF11	LRRC56	RPGR	BLNK	RNF168	CCDC103	DNAI1	DNAI2	GAS8	PGM3	SASH3	DNAH11	TGFB1	CFAP221	DNAAF4	OFD1	RSPH4A	MGP	RSPH3	NEK10	RSPH9	HYDIN	CCDC40	STK36	SPEF2	CFAP298	ODAD4	RSPH1	DRC1	TAPBP	IGHG2	CFAP300	MCIDAS	CCNO	CFTR	GAS2L2	DNAAF3	TAP2	CFAP45	DNAAF6	CCDC39	DNAAF5	DNAAF1	ODAD3	CD79B	NME8	ODAD1	FCGR2A	ODAD2	DNAH1	DNAH5
HP_RECURRENT_TONSILLITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_TONSILLITIS	ELANE	IGKC	RIPK1	SCNN1B	MPEG1	MYO5A	SCNN1G	BLM	CYBC1	IGHG2	C3	SCNN1A
HP_ABNORMALITY_OF_IMMUNE_SERUM_PROTEIN_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_IMMUNE_SERUM_PROTEIN_PHYSIOLOGY	TOM1	UNC13D	PTPN2	NFKBIA	CD247	MEFV	HMOX1	RASGRP1	IL12RB1	POLA1	IL2RB	ABCB4	ATP8B1	PRKCD	FAS	STAT1	RNASEH2A	IL2RA	PSMB8	PRF1	SASH3	ELF4	CASP10	RNASEH2C	STXBP2	NR1H4	TREX1	STX11	SP110	LSM11	RNU7-1	IFIH1	STAT4	FADD	SAMHD1	ADAR	CARD10	FASLG	RNASEH2B	PTPN22	ANKRD55	IL6R	ABCB11
HP_ABNORMALITY_OF_CYTOKINE_SECRETION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CYTOKINE_SECRETION	UNC13D	STXBP2	NFKBIA	STX11	PRF1	MEFV
HP_ABNORMALITY_OF_TUMOR_NECROSIS_FACTOR_SECRETION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_TUMOR_NECROSIS_FACTOR_SECRETION	UNC13D	STXBP2	STX11	PRF1	MEFV
HP_ABNORMAL_NASAL_DORSUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NASAL_DORSUM_MORPHOLOGY	ADAT3	GRIP1	MN1	ITCH	ZIC2	CTSK	AASS	CLCN3	STIL	FBXL4	IL11RA	TBX1	ARSL	FGFR2	PLCH1	CENPT	LMNA	RPGRIP1	LBR	TGIF1	HDAC6	TXNDC15	CASZ1	RNASEH2A	B9D2	EP300	RNASEH2C	ZMPSTE24	TCTN2	NODAL	SOX3	RNU7-1	CANT1	XRCC4	TMEM107	PTCH1	SPEN	CTBP1	SOST	MBD5	TDGF1	SIX3	DZIP1L	SKI	ALDH18A1	HSPG2	TCTN3	GREB1L	GLI3	POLD1	FGFRL1	EFNB1	ZEB2	BUB1B	DLL1	SMARCA2	EBP	PCNT	FOXH1	FGFR3	GAS1	LEMD2	PRPS1	JAG1	TCTN1	FGF8	FGF20	COL1A2	SHH	RNASEH2B	CHRND	LMBR1	CREBBP	POLR3A	TRAIP	DMXL2	MEIS2	NFKBIA	SLC2A10	MTX2	ERCC2	EDAR	TRIP13	HSPA9	CEP290	TWIST1	LHX4	PRDM16	GLI2	LUZP1	PTPN11	UBR1	EDARADD	C12orf57	IGF1	TMEM237	NALCN	MBTPS2	TMEM216	TBCE	EFEMP2	SKIC3	PEX12	COL3A1	PDPN	WDR73	SATB2	DISP1	CHRNG	PAX7	WRN	GHR	BMPER	ATR	DONSON	NEK9	KCNAB2	CDON	ERCC4	POU1F1	B9D1	DNA2	PEX1	TREX1	SLC37A4	PHGDH	CEP55	GH1	SUZ12	CENPE	DPF2	CENPJ	PEPD	ELN	CSPP1	SOX9	ERF	LETM1	FGFR1	CPLX1	BUB3	CSGALNACT1	CEP57	RERE	ASPH	GABRD	RET	FAM20C	EDA2R	TWIST2	PRMT7	LIG4	RPS19	CAV1	HNRNPK	STAG2	TFAP2B	PAX3	PRKCZ	PROP1	GMNN	COG4	NSD2	ATP7A	NUP85	TMEM67	CEP152	FOXC1	FOCAD	PYCR1	RPL10	SCARF2	SLC35C1	LTBP1	NBN	ASH1L	LRP4	TRAF6	LSM11	WNT9B	MKS1	MGAT2	MMP23B	VPS13B	KDF1	SLC25A24	NUP188	SNAP29	RMRP	TMEM231	BANF1	FBN1	PSAT1	ALX4	OTX2	TBL1XR1	PRKAR1A	MAN2B1	ATRIP	UBE4B	STAT5B	PDE4D	MYH3	GLB1	PLK4	MSL3	ATRX	IFIH1	PIGL	SMC1A	PPP2R3C	ALG9	SAMHD1	ADAR	AP4M1	METTL5	RBBP8	RLIM	COL1A1	HESX1	CHRNA1	ABCA12	ITGA8	IL2RA	ZPR1	EDA	RUNX2	HRAS	HNRNPH1	APC	NHEJ1	CC2D2A	FOXA2	PTF1A	PKHD1	GFRA1	SHANK3	BUB1	NRAS	CNOT3	RPGRIP1L
HP_CONCAVE_NASAL_RIDGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONCAVE_NASAL_RIDGE	DMXL2	EBP	NFKBIA	SLC37A4	CANT1	KDF1	FBXL4	FOXC1	IL2RA	IGF1	JAG1	SOST	SHANK3	ZEB2	HSPG2	POU1F1	STAT5B	PEPD
HP_ABNORMALITY_OF_SKIN_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SKIN_PHYSIOLOGY	FOXP3	NLRP3	EXTL3	WIPF1	B2M	SAMHD1	GJB2	ADAM17	TREX1	TGM1	RIT1	TET2	IL17F	USP53	EPHB4	UBA1	AR	DOCK8	TCF3	PRF1	ALOX12B	IPO8	RNASEH2C	DOCK2	LEMD3	TLR4	CYBC1	ADAMTS3	RMRP	ADAR	ABCB11	DNASE1	POMP	THPO	IL7R	ENPP1	NSMCE3	IFIH1	ASXL1	H6PD	OSMR	TBC1D2B	TRAF3IP2	MNX1	RAG1	SPIB	BTK	CASR	GP1BB	FAM111B	LGI3	IL1RN	LIG4	KRT1	ITGA6	MBTPS2	PERP	RREB1	APOA1	PTPN3	IKZF3	TCIRG1	SUOX	COX4I2	CD247	RFXANK	TAF1	CYBB	PNPLA2	PCCB	DSE	TJP2	RNASEH2B	BLOC1S6	POLR3A	HLA-DQB1	IGHM	H3-3B	SCN11A	SLURP1	LBR	LRBA	EDAR	TP63	PRTN3	LYZ	KRT74	HSPA9	NSUN2	VIPAS39	USP8	CSTA	GJA1	ABCC6	NFKB2	PIK3R1	PDGFRA	ZFYVE19	TBX1	MEFV	KNSTRN	STAT3	PGM3	SH3PXD2B	HLA-DPB1	SRD5A3	IL6ST	NLRP12	EDARADD	FOXN1	CLEC7A	RFXAP	KIF11	GINS1	FLI1	COL7A1	IL12RB1	MPL	WAS	GTF2E2	SULT2B1	RNU7-1	CTSC	ATP8B1	GJC2	MSMO1	HLA-DRA	OTULIN	CTLA4	POFUT1	HLCS	FOXP1	MVK	LACC1	PCCA	MBL2	AP1B1	IL12A	KIT	CDH23	SLC27A4	DCDC2	CD3D	USP48	KANSL1	USB1	EPAS1	ERCC3	ESR1	FLT4	IL12A-AS1	SDR9C7	LIPN	ATP2A2	GNA11	CERS3	TOM1	TEK	IL6R	JAK3	SLC6A19	IGKC	POU2AF1	CASP10	SREBF1	IKBKG	SDHA	EBP	CIC	CARD11	STAT4	TLR7	ABCC9	KRT17	PTPRC	BLNK	UROD	NCF1	KRT5	PIK3CA	CLPB	DDX41	ADA	RFX5	LYST	POGLUT1	MORC2	FH	GJB3	RTTN	CARMIL2	GNB2	HLA-B	PMVK	NR1H4	PDE8B	HDAC4	CASP8	CFI	HLA-DRB1	SRP54	SRSF2	ARHGEF2	PKHD1	FGA	PNPLA1	PRKAR1A	SLC30A2	MS4A2	RAC1	CDK10	PIGA	ABCA12	NOD2	ZAP70	KRT14	TCF4	AIRE	ABCB4	TMC8	SCNN1B	MPEG1	MRTFA	SP110	LSM11	SLC39A7	TLR8	UNC45A	GATA3	SPINK5	BLM	JAK2	COMT	CARD9	LCP2	NCSTN	ZNF341	HLA-DQA1	RAG2	SCN9A	NCKAP1L	RIPK1	BTNL2	SEC24C	LRP1	IRAK1	WDR1	ATRX	SCNN1G	IFNG	PRKACA	DSP	DCLRE1C	PKP1	SHANK3	NAA10	CD28	IL17RA	NLRC4	SCN10A	ST14	EFL1	GPNMB	FERMT3	ATP7B	KLRC4	ALOXE3	LRRC32	PSENEN	ANK1	SMARCA2	SRCAP	ARMC5	JAK1	CTSB	HLA-DPA1	BTD	IRF2BP2	BRCA2	GPR101	CDSN	PEPD	FLG2	MSN	PLCG2	MPDU1	MTHFD1	ASPRV1	LIG1	CIITA	ERCC2	NCF4	DNASE1L3	FCGR2B	UNC13D	IL2RG	C5	NR3C1	TRPM4	CYP4F22	ACP5	IL4R	PAH	TFRC	SLC39A4	NFKB1	IL10	LSS	STAT1	MYO5B	MCCC2	HPGD	CCBE1	DIP2B	MC1R	SLCO2A1	FAT4	ECM1	HYOU1	SLC17A9	TNFRSF1B	ITGB2	FECH	SPTA1	IL6	TP53	PI4KA	WNT4	LIPA	GFI1	SIK3	FDPS	AIP	SPTB	EPB42	CCDC47	FLG	PRDM12	STAT5B	RBP4	EDA	TNFRSF1A	G6PC3	PAPSS2	IL36RN	SHOC2	STX3	CYBA	CHD7	BCL11B	PSMB9	STXBP2	UROS	ERCC4	MYD88	GTF2H5	AP3B1	SLC4A1	ACADVL	CLTRN	CD3E	TRPV3	NFE2L2	ERAP1	AP1S3	STX11	TMC6	XIAP	GPR35	MEIS2	LMBRD1	ERCC5	MVD	PLEC	TKT	STING1	MYSM1	DHCR7	PSMB8	DSG4	ZNF750	MPLKIP	SYK	IFNGR1	CYP11B1	PIK3CD	NCF2	SPP1	PTPN22	RBCK1	CLN3	IL31RA	SMARCC2	IL10RB	FGFR2	KRT10	RRAS2	LHCGR	ELOVL4	MED12	SDHC	TNPO3	SMG8	AGA	RNU4ATAC	DOLK	CFTR	TTC7A	TNFSF15	DSG1	GSN	EPG5	SMARCAD1	XYLT1	BRCA1	ITGB4	AUTS2	LPIN2	TGM5	ELANE	PIK3CG	PSMB10	AARS1	B4GALT1	RNASEH2A	LAMB3	POLE	PRMT7	ELF4	HIRA	SLC29A3	NBEA	TNFAIP3	FCGR2A	IL7	AK2	IL10RA	CTNNB1	C4A	NEK9	SBDS	RBM8A	EGFR	PDE11A	IVNS1ABP	IL23R	GJB4	TARS1	CACNA1G	ARVCF	FOCAD	IKBKB	BRAF	NIPAL4	KIF12	FOXC2	PSTPIP1	CIB1	GATA1	CARS1	TRAF6	NUP107	CD79B	DNAJC21	IRF5	CARD14	KDF1	CST6	LRRC8A	GJB6	PLA2G7	MIA3	LDHA	SDHB	RNF113A	MST1	CAMK2B	CHST14	UBE2A	MMP1	LAMC2	MMEL1	CCR1	IL17RC	NRAS	SCNN1A	AQP5	FERMT1	SASH3	TGFB1	PSMB4	KDSR	HSD3B7	PSEN1	ZNFX1	CBL	MIF	ADA2	DNASE2	IGHG2	ARPC1B	RUNX1	SEMA4D	CD40LG	IL2RA	VPS33B	SIN3A	LAMA3	JMJD1C	CD3G	IGLL1	UBAC2	EPOR	HLA-C	GNAS	NAXD	TBCK	UFD1	FAS	CD79A
HP_ABNORMAL_EPIDERMAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EPIDERMAL_MORPHOLOGY	ATP2C1	JUP	KRT2	EBP	SAMHD1	AAGAB	TGM1	ADAM17	MBTPS2	LMNA	NLRP1	CARMIL2	GNB2	DSG1	KRT6C	GJA1	CSTA	ATP2A2	DSP	DSC3	XYLT1	ELOVL4	KRT1	CYP26C1	EGFR	OSMR	SMARCAD1	POGLUT1	IL1RN	GJB2	FLG	KRT9	NIPAL4	MPDU1	ALOX12B	PERP	ZMPSTE24	IL36RN	CIB1	AKT1	CASP14	CAST	CARD14	XYLT2	DCAF17	GJB6	SULT2B1	ELOVL1	LDHA	CDSN	SLURP1	LRP1	LRBA	HLA-B	CHST8	KRT74	RNF168	KRT16	GJB3	ZNF750	PKP1	TGM5	CLDN1	SERPINB8	ABCC6	COL14A1	IKZF1	PPP2R3C	KIF11	SERPINB7	KIT	ENPP1	WNT10A	GRHL2	CYP4F22	KRT10	IL2RA	RASA1	NSDHL	EXPH5	LORICRIN	SLC27A4	LIPN	KDSR	KRT13	ALOXE3	CERS3	IL7R
HP_ABNORMALITY_OF_DERMAL_MELANOSOMES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_DERMAL_MELANOSOMES	AP3B1	MYO5A	RAB27A	AP3D1	GPR143	LYST
HP_CHRONIC_FURUNCULOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_FURUNCULOSIS	IL17RA	PSENEN	OTULIN	CTSC	PSEN1
HP_INCREASED_SENSITIVITY_TO_IONIZING_RADIATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_SENSITIVITY_TO_IONIZING_RADIATION	PIK3CA	BAP1	TERT	RNF168	SMARCB1	NF2	SMARCE1	AKT1	PDGFB	SMO	TRAF7	NSMCE3	MRE11	SUFU
HP_LOW_GRADE_FEVER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_GRADE_FEVER	TET2	PTPN2	PTPN22	IL2RA	STAT4	IL2RB	ANKRD55	CALR	JAK2	MPL	CD247
HP_APLASIA_HYPOPLASIA_OF_THE_SWEAT_GLANDS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_SWEAT_GLANDS	NTRK1	NFKBIA	IKBKG	EDA	KDF1	ZMPSTE24	LMNA	TBX3
HP_SYMPTOMATIC_SEIZURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYMPTOMATIC_SEIZURES	STX16	POMC	FAM111A	GNAS	CYP27B1	KCNJ11	INSR	TANGO2	MC2R	SLC37A4	AKT2	ABCC8	GCM2	GCK	CYP2R1	PCSK1	GLUD1	UCP2	PTH	STAR	HADH	POGZ	NNT	TBCE	TXNRD2	SLC16A1	PROP1	TBX19	HNF1A	GATA3	TNFRSF11A	VDR	MRAP
HP_DIALEPTIC_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIALEPTIC_SEIZURE	VPS35L	SCN2A	SCN1A	PHGDH	TUBB2B	GABRA3	KCNMA1	SZT2	UBE3A	HTT	SPATA5	GJC2	AFF3	GABRD	CILK1	GPT2	DPM3	KCNQ5	PLPBP	CACNA1A	CACNB4	HCN1	GAL	ALDH7A1	RNU4ATAC	FBXO28	CNTN2	SETD2	KDM6A	TSC2	CAMK2A	SCN1B	STX1B	PGAP1	GABBR2	SPATA5L1	MEGF8	SATB1	TRIM8	EPM2A	SLC35A3	SCN9A	TSC1	CLN8	ASAH1	FMN2	AP2M1	EEF1A2	SLC25A22	ZEB2	PAK3	GABRG2	DNM1L	DNM1	GNAO1	ALDH5A1	CLCN4	SYNGAP1	GRIN1	GRIN2A	GRIN2B	GDI1	ZBTB18	ADGRG1	TICAM1	SATB2	PRRT2	NEXMIF	GAMT	VPS11	NGLY1	GABRB3	KCNB1	LAMA2	FIG4	CPA6	PCDH19	GABRA1	TUBB3	PIGQ	MACF1	KCNT2	SLC12A5	ARX	EHMT1	DEPDC5	DMXL2	DYRK1A	ADGRV1	HNRNPK	APC2	NPRL2	PPFIBP1	EFHC1	NHLRC1	CUX2	KIF4A	RELN	WAC	GNB1	GATAD2B	GOSR2	MICAL1	ATP6V1B2	SUPT16H	CDH2	CLCN2	SIK1	NUS1	SETD1B	SLC2A1	KCNA1	RORB	TBC1D24	ALMS1	GPAA1	CIC	TANGO2	ATP1A3	CSTB	SCN3A	CHD2	KCNQ3	SLC6A1	CACNA1H	GNB2	KPTN	TLR3	HID1	GRM7	NBEA	DOCK7	KMT2D	PNPLA8	POGZ	PTEN	DHFR	TBK1	SMARCA2	SMPD1	NSD1	MAPK10	JRK	ARHGEF9	ECM1	NUBPL	ATXN10	KCNQ2	CDKL5	TRAF3	MYT1L	DHDDS	LRP5	CLPB	PDE2A	SRPX2	PIGT	CDK13	MECP2	LGI1	NTRK2	SCN8A	TUBA1A	ALDH4A1	DPM1	CNPY3	LGI4	CACNA1D	GRIK2	GJA5	CAMK2B	STRADA	CASK	SON	KCNC2	TGFB1	WDR26	OPHN1	ITPR1	FGF13	CRIPT	FRRS1L	ZNFX1	ATP6V0A1	GJA8	YWHAG	NPRL3	NFKB2	ATAD3A	COL3A1	MTOR	EZH2	PIGP	TRMT10A	PIGM	NEUROD2	CEP85L	GNAI1	ADPRS	HNRNPU	ACSF3	GLUD1	UNC93B1	FAR1	PAFAH1B1	MTHFR	PNKP	PPP3CA
HP_TYPICAL_ABSENCE_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPICAL_ABSENCE_SEIZURE	PTEN	HNRNPK	SATB2	ALMS1	CACNB4	ASAH1	EEF1A2	GABRB3	WAC	GABRG2	CACNA1H	PLPBP	SLC2A1	ALDH7A1	GABRA1	FBXO28	DYRK1A	GRIN1	GRIN2A	FRRS1L	ALDH4A1	JRK	ADGRG1	DPM1	COL3A1
HP_MYOCLONIC_ABSENCE_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOCLONIC_ABSENCE_SEIZURE	SLC2A1	SYNGAP1	DHDDS	GABRA1	SCN1A	GRIN2A	FRRS1L	KCNMA1	GABRB3	JRK	SETD1B	GABRG2	CACNA1H
HP_FOCAL_MOTOR_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_MOTOR_SEIZURE	SLC1A3	SCN2A	DEPDC5	SLC25A22	GLYCTK	KCNK4	ATP1A3	SCN1A	ATP1A2	PLPBP	KCNQ3	PURA	CHRNA4	ALDH7A1	TBC1D24	WDR45B	EXTL3	DPYD	SDHB	SCN1B	AP3D1	GABBR2	ADAM22	SATB1	SCN9A	CLCN4	GRIA3	SMS	KCNT1	AKT3	ATXN10	KCNQ2	TMEM231	CAMTA1	GABRG2	PTPN23	SRPX2	MTOR	LGI1	GRIN1	GRIN2A	FRRS1L	DPAGT1	SCN8A	CLN5	ARX	CHRNB2	PYCR2	SLC35A3	CUX2	DMXL2	CACNA1D	NR4A2	PRRT2	SDHAF1	NGLY1	CACNA1A	KANSL1	KCTD7	PCDH19	CABP4	SDHA	GABRA1	CRH	PEX3	EN1	NDUFAF6	PIK3CA	BTD	SNORD118	UFSP2	YWHAG	HACE1	SDHD	SMARCAL1	RELN	SIK1	GNB1	POU4F1	MICAL1	CHRNA2	SLC1A2	FAR1	SLC12A5	PAFAH1B1	PPP3CA
HP_FOCAL_AUTONOMIC_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_AUTONOMIC_SEIZURE	KCNQ3	DEPDC5	KCNQ2	GAL	RELN	LGI1	MICAL1
HP_FOCAL_SENSORY_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_SENSORY_SEIZURE	PRRT2	GAL	EPM2A	KCNA1	CACNA1A	CNTN2	NHLRC1	ADGRG1	RELN	LGI1	TREX1	SRPX2	PI4KA	MICAL1	SCN1A	ATP1A2
HP_FOCAL_SENSORY_SEIZURE_WITH_VISUAL_FEATURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_SENSORY_SEIZURE_WITH_VISUAL_FEATURES	EPM2A	RELN	NHLRC1	CNTN2	MICAL1	LGI1
HP_FOCAL_MYOCLONIC_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_MYOCLONIC_SEIZURE	HACE1	SDHA	PYCR2	ALDH7A1	CACNA1D	SDHD	SLC25A22	GRIN2A	EXTL3	SDHB	AP3D1	SDHAF1	SIK1	CLN5	TMEM231	CAMTA1	POU4F1	SATB1	KCTD7	PLPBP
HP_FOCAL_TONIC_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_TONIC_SEIZURE	KCNQ3	SCN2A	PURA	KCNQ2	SLC25A22	MTOR	EN1	WDR45B	SLC1A2	CLCN4	GRIA3	PIK3CA	PRRT2	NGLY1	SIK1	SCN8A	AKT3
HP_GENERALIZED_CLONIC_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_CLONIC_SEIZURE	SCN2A	KCNA1	PSAP	DPM2	SCN9A	PIGP	TRIM8	SCN1B	GRIN2A	ACSF3	NEUROD2	PRRT2	SLC25A22	PCDH19	SCN1A	KCNQ2	CASK	CDKL5	GABRG2	GNAO1	PIGQ	GRM7	ARX	DMXL2	GABRA1	KCNQ3	SIK1	GRIN1	SCN8A	PNKP	SATB1
HP_GENERALIZED_MYOCLONIC_ATONIC_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_MYOCLONIC_ATONIC_SEIZURE	CAMTA1	SLC6A1	AP2M1	SCN1A	NEXMIF	CHD2	SYNGAP1	SLC2A1	MED13	OGDHL
HP_SIMPLE_FEBRILE_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SIMPLE_FEBRILE_SEIZURE	SCN2A	NPRL2	TSEN2	NEXMIF	AASS	PRRT2	SCN3A	CHD2	WAC	KCNQ2	CPLX1	KCNQ3	TBC1D24	TSEN34	TSEN54	SYNGAP1	DEPDC5	SLC6A1	DYRK1A	SCN1A	TSEN15	SEPSECS	AP2M1	NPRL3	SCN8A	SLC2A1
HP_COMPLEX_FEBRILE_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMPLEX_FEBRILE_SEIZURE	PCDH19	SCN2A	PRRT2	SCN9A	GABRG2	PDE2A	CACNA1A	SCN8A	COG4	GABRA1	FAR1	ADORA2A	SCN1B	SCN1A	SLC25A12	ATP1A2
HP_EEG_WITH_FOCAL_EPILEPTIFORM_DISCHARGES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_FOCAL_EPILEPTIFORM_DISCHARGES	KCNA1	DEPDC5	ASPA	CDKL5	UBE3A	SCN1B	ADGRG1	SPATA5	SPTBN1	SRPX2	ATP1A3	CARS2	ST3GAL5	CHD2	FGF12	ATP1A2	PLPBP	TBC1D24	CACNA1A	ARFGEF1	CHRNA4	ALDH7A1	IQSEC2	HID1	GRM7	DOCK7	SLC35A2	DPYD	GABBR2	SATB1	RNF13	TRIM8	DOLK	SCN9A	CLCN4	PDHA1	MAPK10	KCNT1	SLC25A22	GABRB3	SCN1A	ARHGEF9	AKT3	SYT1	PI4KA	KCNQ3	DNM1	KCNQ2	ACTL6B	SCN2A	GABRG2	SUOX	GNB1	GNAO1	ADK	MTOR	PIGT	GRIN2A	PIGG	SCN8A	AP2M1	CLN5	PRPS1	LONP1	PSAT1	CHRNB2	NEXMIF	CNTNAP2	SLC25A10	COQ2	LGI1	CASK	KANSL1	KCTD7	PCDH19	CABP4	ALG1	PIGQ	CRH	ARX	TBC1D2B	MECP2	DMXL2	MED13L	FRRS1L	PIK3CA	PDSS2	GRIN1	NPRL3	NPRL2	PRRT2	PIGP	MYD88	NEUROD2	LRPPRC	CUX2	KCNMA1	TFE3	CPLX1	CHRNA2	CLTCL1	RELN	SYNGAP1	SLC6A1	GABRA1	SIK1	DAG1	PNKP	PPP3CA	SLC2A1	P4HTM
HP_EEG_WITH_FOCAL_SPIKES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_FOCAL_SPIKES	CHRNB2	DEPDC5	ADGRG1	GRIN2A	CNTNAP2	CLCN4	SRPX2	PDHA1	KCNT1	PIGG	ARHGEF9	COQ2	GNB1	AKT3	TFE3	SYT1	PI4KA	CHRNA2	CABP4	CHRNA4	CRH	MTOR	PIK3CA	PDSS2	CLN5	LONP1
HP_EEG_WITH_FOCAL_SHARP_SLOW_WAVES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_FOCAL_SHARP_SLOW_WAVES	DNM1	CACNA1A	HID1	MTOR	SCN1A	SPATA5	CUX2	PIK3CA	MAPK10	GABRB3	GNB1	AKT3	CHD2
HP_EEG_WITH_FOCAL_SHARP_WAVES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_FOCAL_SHARP_WAVES	PSAT1	PDHA1	PRRT2	SRPX2	TBC1D24	GRIN2A	CACNA1A	SYT1	SCN1A	LONP1	ATP1A2
HP_EEG_WITH_FOCAL_SPIKE_WAVES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_FOCAL_SPIKE_WAVES	TBC1D24	IQSEC2	GABRG2	GRIN2A	NEXMIF	SRPX2	SYNGAP1	SLC6A1	FRRS1L	SCN1A	DAG1	CHD2	AP2M1	CPLX1	SATB1	SLC2A1
HP_EEG_WITH_GENERALIZED_EPILEPTIFORM_DISCHARGES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_GENERALIZED_EPILEPTIFORM_DISCHARGES	SCN1A	ASPA	KCNMA1	IARS2	CACNA1E	AASS	APC2	GLYCTK	SPATA5	SCN8A	EEF1A2	DNM1	UGDH	CDKL5	CILK1	GABRA5	ST3GAL3	CACNA2D1	PLPBP	NECAP1	CDK19	CACNB4	ALDH7A1	CACNA1B	PIGY	SIK1	DNM2	ATAD1	COL13A1	KCNQ2	FGF13	PIGV	STX1B	ATP1A3	GRN	PHGDH	GABBR2	SYNGAP1	GRIN2B	SATB1	VARS2	ATP1A2	AP3B2	TRIM8	EPM2A	CNKSR2	SCN9A	CDK5	ARFGEF2	DHDDS	HCFC1	SLC39A8	HMGCL	AP2M1	PHACTR1	MPDU1	NTRK2	SLC25A22	AKT3	GABRG2	PI4KA	ALG3	MFF	SCN2A	PTPN23	FGF12	GNAO1	SLC5A7	ACTL6B	CELF2	GABRD	NDUFAF8	SCN3A	GRIN2A	PRKAG2	PIDD1	GRIN2D	DPAGT1	GUF1	CLN5	GFM2	PSAT1	DMXL2	NEXMIF	CACNA1A	NARS2	CNTNAP2	SLC38A3	VAMP1	RUSC2	GABRB3	KCNB1	YWHAG	UPB1	PCDH19	GABRA1	TRAPPC12	SMC1A	SRPX2	PIGQ	SCARB2	KCNT2	PPP3CA	ARX	SZT2	DEPDC5	PIK3CA	CPLX1	KCNA2	ADGRV1	GABRB1	NEUROD2	PIGW	NPRL2	PPFIBP1	PRRT2	EFHC1	ZNF526	DOCK7	NHLRC1	ATN1	GABRB2	BRAT1	KIF1A	ALG13	CCDC88A	DOLK	GNB1	GOSR2	ALG2	KCNJ11	ABCC8	PARS2	ASNS	CLCN2	MOGS	MYO9A	GABRA2	ZNHIT3	SETD1B	SCN1B	TIMM50	ZNF148	SLC2A1	KCNA1	DPM2	SYNJ1	ADGRG1	SETBP1	SPTBN1	PLAA	ATP7A	ERMARD	CSTB	NACC1	CHD2	IER3IP1	KCNQ3	CACNA1H	SLC18A3	ARFGEF1	HID1	GRM7	CYFIP2	SLC35A2	ALG11	SLC1A4	DALRD3	ATP6V0A1	MED17	SLC25A1	CHAT	TBC1D24	PDHA1	ALG14	JRK	GNB5	ATXN10	SYT1	CNPY3	MTOR	SNAP25	WWOX	PGAP2	AARS1	MGAT2	TUBB2A	TRAK1	PRICKLE1	ALDH4A1	HCN1	CLTC	LONP1	OGDHL	CUX2	NF1	WDR45	STXBP1	PLCB1	CASK	AGRN	ATP6V1A	KCNC2	SLC25A46	TGFB1	PIGT	PIGA	NSF	SPTAN1	TBL1XR1	PGAP3	SLC13A5	TBC1D2B	FRRS1L	PTS	HIBCH	PIGO	GRIN1	NPRL3	EXOC8	MDH1	PIGP	SAMD12	ARV1	AIMP2	DCX	COX4I1	UBA5	GAD1	NUS1	CLN8	SYT2	PIGS	SLC1A2	CUL3	FZR1	GLUD1	SLC6A1	NAXD	D2HGDH	PNPO	TBCK	CPA6	PAFAH1B1	PNKP	PIGL	ROGDI	STARD7
HP_EEG_WITH_GENERALIZED_SHARP_SLOW_WAVES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_GENERALIZED_SHARP_SLOW_WAVES	PIGT	PDHA1	PRRT2	ALDH7A1	ALDH4A1	CACNA1A	SCN1A	LONP1	ATP1A2	PLPBP
HP_EEG_WITH_ABNORMALLY_SLOW_FREQUENCIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_ABNORMALLY_SLOW_FREQUENCIES	KPTN	NEXMIF	CACNA1A	GRN	KCNA2	CNTNAP2	SLC38A3	SCN8A	EEF1A2	DNM1	CDKL5	CHMP2B	CHD2	YWHAG	GABRA5	GRIN2D	CACNA2D1	PLPBP	NECAP1	CDK19	C9orf72	OCA2	ALDH7A1	CACNA1B	SCN3A	HID1	PPP3CA	ATP6V1A	SZT2	SLC13A5	FGF13	ATP1A3	CYP27A1	DALRD3	PLP1	SYNGAP1	MAPT	VCP	RNF13	AP3B2	CNKSR2	DOLK	GABBR2	GRIN2A	DHDDS	ARV1	CYFIP2	TMEM106B	LRPPRC	GABRB2	TREM2	NTRK2	CELF2	MECP2	SQSTM1	UBA5	ATP1A2	GNB1	PIGY	NUS1	CLN8	PARS2	SLC1A2	LMNB1	FGF12	UBE3A	FZR1	SYNJ1	ACTL6B	WWOX	AARS1	TRAK1	PSEN1	SLC6A1	GABRA2	SCN1A	GABRG2	HCN1	DPAGT1	AP2M1	CLN5	KCNB1	CLTC	SLC2A1	P4HTM
HP_EEG_WITH_CONTINUOUS_SLOW_ACTIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_CONTINUOUS_SLOW_ACTIVITY	C9orf72	TMEM106B	MAPT	GRN	VCP	PSEN1	TREM2	CHMP2B	SQSTM1
HP_SHORT_FACE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_FACE	POLR1B	POLR1C	PAX9	WNT10A	POLR1D	SUMO1	TCOF1	EDARADD	UBB	AXIN2	TGFA	IRF6	GRHL3	FGFR1	RUNX2	MSX1	WNT10B	EDA	LRP6
HP_PROMINENT_FOREHEAD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_FOREHEAD	VPS35L	ADAT3	TWIST1	MN1	H19	IARS2	CASK	POU1F1	LRP4	NSD2	ITGA3	CLCN3	ACTL6B	HECW2	ZBTB20	TRIP11	B3GALT6	DLK1	CDKL5	GNE	RTL1	HMGA2	NANS	ALDH18A1	PITX2	RYR1	ASXL3	COL27A1	SETD2	DPYD	PIGK	IGF2	WAC	PIGL	DVL3	IFT140	FZD2	SMG9	MEGF8	DPH1	COL18A1	SPECC1L	INPPL1	MTOR	FAM111A	PLAG1	WNT5A	TONSL	SMOC1	GJB2	SKIC2	TAPT1	CCND2	EDA	CPT2	GNS	MED12	SHOC2	PMM2	KCNJ1	KDM1A	CEP57	SKI	PIK3R1	POC1A	RPS6KA3	SUMF1	LARP7	TAF1	NFIX	FAM50A	PRPS1	VPS33A	SCN1A	ZBTB18	AP2M1	PTH1R	FLNA	CDC42	CREBBP	LRPPRC	MAB21L2	USP9X	SP7	H3-3B	NEXMIF	ZNF711	IFT81	KIAA0753	MAPKAPK5	EDAR	GLE1	MYH3	AP1G1	FBXO31	RALA	KIF11	STAT3	PURA	PPP2R5D	KIDINS220	EDARADD	IGF1	ARCN1	LBR	EFEMP2	DPH5	SKIC3	APC2	LHX3	POLR3A	OPHN1	FLNB	SNX14	FOXP1	EBF3	PLA2G6	NALCN	MED13L	GPAA1	PROP1	ARX	PRKDC	TTC7A	CDH2	DHCR24	TRRAP	SUZ12	SCYL2	KDM6B	EPG5	DPF2	MID1	EXT2	ROR2	SLC2A1	MAN2B1	PPP1CB	PEPD	SVBP	KPTN	MEG3	DVL1	ELN	ZNF292	SETBP1	TMEM147	ERMARD	KIF7	ERF	KMT2E	CHD2	DYNC1H1	LHX4	PTDSS1	GPC4	PRMT7	ADNP	BRAF	UBR7	FUCA1	COG4	ATIC	UPF3B	FBLN5	FOXC1	FARSB	H3-3A	INPP5E	NSD1	MBTPS1	PYCR1	GRB10	PUF60	CHST3	AP1S2	ZBTB7A	HERC1	TRAF6	IL6ST	SRCAP	BRWD3	B3GLCT	TBCE	KDF1	IRX5	PDGFRB	ASXL1	RMRP	GJB6	FBN1	PKDCC	CDKN1C	CHD3	SH3PXD2B	PEX5	SATB2	EP300	SON	GJA5	HESX1	CAMK2B	OBSL1	DPH2	STAT5B	ABCC9	NAA10	CKAP2L	ALX4	FGFR3	TMEM53	SERPINH1	NPR2	COL2A1	GJA8	PAM16	UNC80	FMR1	FAM149B1	IL2RA	SIN3A	ZPR1	B3GAT3	HRAS	WASHC4	PTEN	ZSWIM6	SYNGAP1	SLC6A1	RAF1	D2HGDH	CA2	AMER1	NRAS	ARNT2	CNOT3	P4HTM
HP_ABLEPHARON	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABLEPHARON	POLR1A	TWIST2	PSAT1	RIPK4	PHGDH
HP_APLASIA_HYPOPLASIA_OF_THE_EYELID	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_EYELID	MAB21L2	EIF5A	GRIP1	ESCO2	FRAS1	TWIST2	PSAT1	SEMA3E	DHODH	KRAS	FREM2	FREM1	ALX1	FLI1	EDNRA	RNASEH2A	RIPK4	POLR1C	CHD7	ADNP	TCOF1	KCTD1	RNASEH2C	SLC25A24	RNU7-1	POLR1D	IFIH1	TXNL4A	SAMHD1	ADAR	CDH11	SF3B4	ZPR1	SF3B2	POLR1B	TREX1	LSM11	PHGDH	FGFR1	CCNQ	POLR1A	TWIST1	RNASEH2B
HP_HORIZONTAL_EYEBROW	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HORIZONTAL_EYEBROW	COL18A1	CNOT2	HSPG2	PDPN	DNMT3A	KCNK4	EBF3	RERE	DDB1	ADAM17	GABRD	FOXP2	RALA	KCNAB2	UBE4B	SYT1	CASZ1	RALGAPA1	GNB2	DEAF1	CDK19	PRDM16	LUZP1	H4C5	EGFR	INTS1	MMP23B	PRKCZ	SPEN	TRAPPC9	MED13L	HEATR3	SKI
HP_BROAD_EYEBROW	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_EYEBROW	CREBBP	EIF5A	PYCR2	ZEB2	MAN1B1	POLR3A	EP300	NEPRO	POLA1	SON	SPATA5	RERE	SPTBN1	MAF	DDB1	TTC5	SLC35C1	HERC1	BPTF	TRMT1	SIN3A	CHD1	MAPK1
HP_PROMINENT_EYELASHES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_EYELASHES	ARID2	ARID1A	SMARCC2	SMARCB1	LMNB1	SMARCA4	ARID1B	KDM6A	KMT2D	RNU4ATAC	DPF2	SMARCD1	SOX4	SMARCE1	SOX11
HP_MICROTIA_THIRD_DEGREE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROTIA_THIRD_DEGREE	CDC6	FANCB	ORC6	ORC4	CDC45	TCTN3	CDT1	ORC1	GMNN	TWIST2
HP_ANISOCYTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANISOCYTOSIS	GATA1	TRNT1	RHCE	RHD	UMPS	RACGAP1	NHLRC2	CASK	UROS	G6PD	HBB	GLRX5	TMPRSS6	CDAN1	RHAG	PKLR	CDIN1	KIF23	ATPAF2	RPS14	KLF1
HP_RECURRENT_MYCOBACTERIAL_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_MYCOBACTERIAL_INFECTIONS	DNAH9	IFNGR2	ZMYND10	IFNGR1	SPAG1	DNAJB13	IL12RB1	TTC12	DNAAF11	LRRC56	RPGR	DNAI1	GAS8	DNAH11	DCLRE1C	CFAP221	DNAAF4	OFD1	RSPH4A	RSPH3	NEK10	DNAL1	TYK2	HYDIN	STK36	SPEF2	CFAP298	ODAD4	RSPH1	CFAP300	GATA2	CCDC103	MCIDAS	CCNO	RSPH9	ISG15	GAS2L2	DNAAF2	CCDC65	DNAAF3	DNAAF6	CYBB	DNAAF5	STAT1	DNAAF1	ODAD3	FOXJ1	CCDC40	NME8	DRC1	CCDC39	ODAD1	ODAD2	ZAP70	DNAI2	DNAH1	DNAH5
HP_VASCULAR_SKIN_ABNORMALITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VASCULAR_SKIN_ABNORMALITY	FOXP3	NLRP3	MT-ND4	F13A1	ITGA2B	ANKRD26	ODC1	ADAM17	TREX1	SDHD	FOXE3	C1R	PDSS1	ITGA2	RNASEH2C	PIGY	TERT	NDUFB11	PTPN11	TGFB2	SLC51A	FZD4	IFIH1	ASXL1	JAK2	SEC23B	HPS6	RNF113A	GP1BA	UVSSA	PLG	RASGRP1	C1S	GP1BB	ALOXE3	MAT2A	MBTPS2	TGFBR2	DOCK6	SLC39A4	NFKB1	LARP7	FANCC	GP9	NFIX	MYH11	DSE	STIM1	ARX	RNASEH2B	POLR3A	PRDM5	LBR	BMPR2	NOTCH1	PRTN3	VWF	USP8	CSTA	ABCC6	TGFBR1	RIN2	HPS1	PGM3	LYST	NLRP12	GFI1B	IL12RB1	NAGA	HEY2	PIK3CA	SLC37A4	SLC39A13	ACP5	CTSB	SLC35A1	IL12A	RECQL4	GNA14	SUPT16H	AEBP1	USP48	CAVIN1	USB1	MPL	ERCC3	CD19	ATRX	TFR2	FTO	RAD21	GNA11	CASP10	MT-ND5	IKBKG	TNFSF11	ABCC9	HPS3	ELOVL4	GABRD	STXBP1	F5	PTDSS1	CFHR1	GJB3	CCM2	DDB2	PIGT	COL3A1	FUCA1	NBEAL2	SOX18	ERCC2	SAMD9	SMAD4	MYOF	LRP5	RBPJ	STAT3	TMC8	ANTXR1	LSM11	SDHC	TGM1	SERPINF2	BMP2	F2	SEC24C	XPR1	PRKCD	SPINK5	PRKACA	ELMO2	DAXX	WAS	PTEN	GLB1	CD28	IL17RA	NLRC4	SMC1A	ADA2	ERCC6	CAV1	SCN10A	GJB4	MT-TF	LORICRIN	GJA8	FERMT3	PIGO	RUNX1	COL1A2	COL1A1	HLA-DRB1	MYD88	ADGRE2	NFIA	IRF5	MASP1	XPC	APOE	NUMA1	PEPD	FLT4	COL5A1	PLCG2	AIP	ETHE1	ERCC5	FAS	ATP7A	PLAU	DNASE1L3	BRD4	UNC13D	CBS	HBA1	GATA2	TNXB	STN1	EPHB4	ZMPSTE24	F13B	PROC	MVK	KIT	SREBF1	STAG1	TBX1	HLA-DQB1	ACTA2	GLA	MT-TH	CLEC7A	POLD1	IPO8	BLOC1S5	HCCS	H4C3	PDGFB	G6PC3	TNFRSF1B	IL36RN	POLH	ERCC4	MT-CO1	MT-ND1	KRT1	KRAS	LEMD2	PRKAR1A	HS3ST6	DLL4	ACVRL1	GPR35	SMAD3	SETX	KRT10	HLA-B	ICOS	MT-CYB	EOGT	PPARG	FGA	GUCY1A1	FASLG	MT-CO3	KRIT1	LMAN1	PORCN	TGFB3	HDAC8	SMAD2	SOS1	SDHB	RASA1	RARA	IL17F	ETV6	DDX11	CR2	GSN	TNFRSF13B	ENG	HEATR3	GBA1	NDP	NSUN2	ANTXR2	RNASEH2A	VPS53	NABP1	JAM2	IFNG	HIRA	GATA1	SLC29A3	HOXA11	DNAJC30	PRKCZ	KRT5	AKT3	ARVCF	BRAF	NPM1	ATR	NR3C1	STX11	CTC1	PGAP2	CD109	SLC25A24	HPS5	FLNA	TYMS	BANF1	MAP2K1	GNPTAB	ITGB3	NFKB2	GJA5	CHST14	MMEL1	RNF168	RNF213	UBE4B	AQP5	FERMT1	PDE11A	SBDS	PIGW	PYCR1	ORAI1	ATP6V0A2	CBL	AKT1	NF1	SAMHD1	ARPC1B	ADAR	CD81	PPP1R15B	KDSR	GDF2	JMJD1C	TCIRG1	TNFRSF1A	ANAPC1	GNAS	F8	USP18	IL17RC	TNFSF12	CALR	RPS6KA3	TBL1XR1	ATP2C1	IRF2BP2	WIPF1	PROS1	IARS2	POLA1	KRT2	KNG1	FIP1L1	DIAPH1	MT-ND2	TET2	CASZ1	CFH	SLFN14	RAB27A	PLOD1	KCNQ2	KIAA0319L	ENPP1	ATP6V1A	DHCR7	STAT5B	HSPG2	C2	SPIB	MT-TL1	FCGR2C	LIG4	ALOX12B	FBN1	CCN2	RREB1	CREB3L1	PARN	SLURP1	MYH9	EPHB2	CYLD	DPM1	CTNNB1	CLCN7	DDR2	LOX	DST	GJA1	DSP	TRAF3IP2	FRG1	PRDM16	HLA-DPB1	IKZF1	AGA	SERPINE1	TRPM4	MT-ND6	NEU1	ADAMTS2	PDPN	BLOC1S3	WRN	TBXA2R	SLC2A10	CDH23	SCARB2	MT-TS2	SLC27A4	BCOR	XRCC4	MT-TQ	LMNA	PML	POU2AF1	CFHR3	C4A	FGG	PRF1	CARMIL2	GNB2	CCR6	WRAP53	PDE8B	SLC20A2	PDCD10	SRSF2	F7	SPRED2	POLE	SERPING1	MEFV	TSPAN12	ARHGAP31	CPN1	TCF4	MMP23B	BLM	COMT	SH2B3	LCP2	XPNPEP2	GIMAP5	PCNA	LRP1	COL7A1	ATM	ALDH3A2	SNX10	NTRK1	B3GALT6	AP1S1	BSCL2	MFAP5	HBA2	ATP7B	GGCX	GNAQ	PRKG1	ARMC5	PDGFRB	HLA-DPA1	RHOH	RAC2	LIPN	KRT14	COG8	LIG1	TERC	DCLRE1B	ITGA3	FANCA	F12	COL5A2	FOS	MYORG	FANCD2	ZNF408	RNU7-1	SPEN	PIGV	FECH	SKI	TP53	ALDH18A1	ARID1B	SIK3	COX7B	FANCE	NHP2	HPS4	OCLN	NOP10	HFE	STXBP2	TINF2	RTEL1	MAPK1	CTLA4	ALPK1	P2RY12	GLUL	TMC6	ANGPT1	PLEC	FKBP14	STING1	PSMB8	DSG4	SYK	TGM5	LUZP1	TALDO1	CDKN1B	ARPC4	PRKACG	ABL1	SCN11A	SCN9A	TRPV3	ZNF469	TNPO3	CTSA	KCNAB2	FGB	DTNBP1	PSMG2	TNFSF15	NOD2	PERP	FYB1	RERE	ATP6V1E1	NIPBL	MYLK	USF3	ZBTB16	IL7	PEX6	COG4	LMX1B	XPA	MANBA	DKC1	NDUFS2	SMC3	MCFD2	CIB1	MTAP	GP6	EGFR	SF3B4	AGXT	ARL6IP6	SULT2B1	MST1	KRT83	WNT10A	MT-CO2	TNFRSF13C	PLOD3	PGAP3	PIGL	MS4A1	HPGD	MT-ATP6	SEMA4D	EMILIN1	NSDHL	F10	KLLN	MT-ND4L	PTPN22	MT-TW	ELN	NAXD	AGPAT2	UFD1
HP_ABNORMALITY_OF_THE_URINARY_SYSTEM_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_URINARY_SYSTEM_PHYSIOLOGY	MT-ND4	SDHB	ALK	ITGA2B	ARSB	LMX1B	VPS37D	TRNT1	B2M	SDHD	KYNU	GNE	ZNF699	ITGA2	CPT2	TERT	AVPR2	SLC41A1	DNASE1	ALG1	SLC6A20	SLC6A19	GLIS2	CLCNKA	CYB561	CFB	SLC25A4	RASGRP1	GNAS	HCFC1	CDK4	KCNJ5	SRY	TMEM67	ITGA6	TRAF3IP1	CAMKMT	MAX	HACE1	SLC3A1	HNF1B	PKD1	CLCN5	RPGRIP1L	POLR3A	CPT1A	ASS1	BRCA2	BCKDHA	PGK1	WT1	TRPS1	PRTN3	LYZ	ACADM	HGD	COL4A3	MAFB	ERCC8	HPS1	PGM3	FBP1	FKBP6	NDUFA1	SLC12A1	VPS33B	ATAD3A	MT-ND6	IFT43	CCND1	MT-ATP6	PAX2	PYGM	OTC	KIF1B	SMARCAL1	HBB	CDC73	MPI	MPC1	TPRKB	MOCS1	NNT	ASL	DGKE	IL12A-AS1	LIPN	GNA11	CRPPA	IGKC	GNAS-AS1	HLCS	MT-ND5	CLDN19	TANGO2	SCNN1B	NGLY1	FAH	GUCY2D	VHL	CFHR1	KCTD1	NBN	NR0B1	DDB2	PIGT	FUCA1	PAFAH1B1	PIGA	ERCC2	SAMD9	PAX6	FARSB	HIC1	CFTR	SGCB	ZNF423	UMOD	ABCA12	KCNJ18	INSR	TREX1	SURF1	CISD2	TTC21B	TPK1	TBX1	IDUA	KIRREL1	SLC7A7	ALDH4A1	NDUFS1	POLR3GL	DAAM2	HAL	OCRL	TK2	ALDOB	DNAJB11	WASF1	PRKCD	TMEM237	ETFDH	HLA-B	BSND	EIF4H	SHANK3	MTRR	MMAB	CPOX	TTC8	IFT140	LZTFL1	AUH	MT-TF	WDR19	PDSS2	SLC34A1	CD2AP	NDUFAF3	MRPS2	JAK1	MC2R	CEP290	RYR1	NUMA1	PHOX2B	PEPD	TNFRSF11A	ACAD9	ETHE1	ASPRV1	EIF2AK3	FCGR2B	CBS	SH2B1	KAT5	HMOX1	TCN2	ACP5	MMACHC	POLRMT	ZNRF3	IL10	CLCNKB	NR5A1	TGFB1	CC2D2A	ZMPSTE24	SIX5	AMMECR1	METTL27	INPP5E	ADCY10	SATB1	ADAMTS13	NUP85	INPPL1	NDUFS4	GLA	CLEC7A	MARS1	CTNS	ARHGDIA	TMEM231	PTPN22	UROS	HADH	PEX1	ARG1	GCDH	PMM2	SNX14	HIBCH	PDX1	PRKAR1A	CRB2	ACVRL1	NUP37	SOX18	GPR35	GCSH	GON7	ABCC8	NCF1	TKT	MYCN	EFEMP2	CEL	ANKFY1	IFNGR1	PTPRO	SDCCAG8	SPP1	NOTCH2	CIITA	LMAN1	UMPS	DLD	UROD	IFT172	MED12	NOS3	RASA1	FANCI	ERCC6	MLXIPL	RARA	TAOK1	NDUFB9	ERCC4	YRDC	IL17F	ACAD8	THOC6	MOCS2	MAPK1	CEP120	DPYD	REST	TIMM50	NDUFB3	KCNJ11	ANLN	NUP133	HMBS	NDUFS2	IQCB1	SGPL1	TRIM32	LAMB3	NDUFAF5	NABP1	AASS	WAS	ATP5F1D	DDOST	MT-CO1	TSC1	C4A	MT-ND3	FLT1	LMBRD1	DHX37	FKRP	RAD51C	IL23R	RRM2B	RAG2	NSMCE2	SLC7A9	EMP2	FANCF	TAFAZZIN	COL4A6	HOXA13	SLC2A2	NUP107	LAMB2	FARS2	ITGA8	AP2S1	NEXMIF	SLC26A1	PLCE1	GALK1	LIPT1	SLC5A1	MYL9	WFS1	SUGCT	MMP1	FANCM	DHTKD1	MT-TW	APC	NRAS	FXYD2	ACADVL	DSTYK	ATP1A1	EHHADH	GALNS	SLC34A3	FANCE	PDP1	ELP1	TRMU	SLC25A19	GLUD1	TBL1XR1	BCS1L	GUSB	CYP11A1	NDUFA9	WDR4	CFI	IRF2BP2	WIPF1	NDUFB10	FANCB	NPHP4	PC	ATP6V1B1	IDS	MYOCD	IDH1	ACADS	F8	THBD	SLC25A15	TRIM8	ARL3	STAT5B	PCCB	BTK	PBX1	NPHP1	MT-TL1	BBIP1	BBS5	SCO1	EXT1	ALOX12B	MCCC1	NUBPL	FCGR2A	OXCT1	DYNC2I2	BLK	MTX2	DYNC2I1	NDUFS7	SOCS1	MDM2	HSPA9	SPRY2	MAGI2	DHDDS	TRAF3IP2	ISL1	GRHPR	MEFV	NUP205	KNSTRN	TXNRD2	IKZF1	XPC	SKIC3	BBS9	CA2	FN1	ETFB	COA8	CYP27B1	FANCA	TRPC6	COQ6	GBA1	ANKS6	SCARB2	MT-TS2	SLC37A4	BCOR	HMGCL	MT-TQ	ENPP1	RET	BBS2	TOP2A	DYNC2H1	PHYH	DMRT3	NPHS1	DCDC2	KCNJ10	SPTBN1	PTH1R	CFHR3	NOS1AP	PRF1	NDUFV1	ISCU	COQ2	ALAD	MAPKBP1	PRPS1	RFXANK	UROC1	CLPB	PNPLA6	OSGEP	FGA	GSS	OFD1	EPG5	TMEM126B	DMP1	COQ8B	LPIN1	KANK2	TCF4	APRT	UQCC2	ATP6V0A4	STAR	MT-TV	INF2	NDUFAF1	PPOX	LIN28B	BLM	ELN	FAM20A	FUZ	LHX1	COL2A1	BICC1	SLC4A4	IRAK1	MCEE	TBX18	SLC5A2	G6PC1	HSD17B10	PLVAP	NDUFS6	MEN1	MUC1	ACSF3	SLC22A12	BTD	SCNN1G	MMUT	FAN1	NDUFAF4	P4HA2	WDR73	TRPV6	LMNA	CCNQ	GSN	AMT	ALG5	PCK1	HPRT1	PNP	CYC1	TP53RK	GLYCTK	ADA2	CASP10	MOCOS	PKD2	PHKA2	ALDH18A1	BBS10	CASR	FBLN5	TBC1D8B	SLCO2A1	SLC25A20	MYH9	STX16	PREPL	HOGA1	AGT	SUMF1	DNASE1L3	HLA-DRB1	GATM	OCLN	MINPP1	MMAA	PAX4	DMD	XYLT2	PRODH	IL2RG	CLTRN	ERCC3	YAP1	PLOD1	ALPL	TMEM70	TRAIP	CUBN	EYA1	GAPVD1	NT5C3A	FTCD	NDUFA6	PIK3CD	GLB1	MKS1	NADK2	NPHP3	POU6F2	ATP11C	NF1	MTR	GTF2I	HMGA2	CFHR5	SERPINA6	GP1BA	AGTR1	PIK3CG	COL4A5	ALMS1	MT-ND2	GATA6	CDC42BPB	STAT3	BCR	HTRA2	FAS	IER3IP1	SCNN1A	KRAS	KARS1	CAV1	IFT74	SUCLG1	XPA	FOXRED1	KRT18	ALDOA	CD151	DMGDH	TMEM216	FLAD1	LIG4	FOXC2	GATA1	SEC61A1	SARDH	SLC9A3R1	CTNNB1	HSD3B2	MUTYH	MAP3K1	PKDCC	LCAT	LDHA	CASK	KLF6	SON	HADHA	SLC36A2	MYO1E	LAMC2	CD320	C3	RPIA	GTF2IRD2	PHEX	LIMK1	CDKN2A	LEMD3	LRIG2	IGHG2	TMEM127	TOM1	TMEM270	YWHAE	KANSL1	SEMA4D	HNF1A	SLC35A1	INVS	PIEZO1	ENG	PHKB	NUP160	UBAC2	PYGL	PIK3C2A	ZAP70	C1QB	SERPINA1	ALG9	IRF1	DNAJC19	SMAD4	GABRA3	EP300	FOXP3	SLC4A1	NLRP3	LRP2	SERAC1	ETFA	MT-ND1	DNMT3A	RMRP	SETD2	MT-TK	GNPTAB	CDKN1B	APPL1	IFIH1	CR2	MAGED2	NAGLU	AGK	FMO3	SMARCA2	LETM1	PUS3	COX16	ATP7B	SLCO1B1	APOA1	SLC25A1	XPNPEP3	GP9	SLC25A21	VPS33A	NAGA	PALB2	GP1BB	HFE	SLC25A13	LAMA5	TTR	VIPAS39	PCCA	CLDN10	MTHFR	PHKA1	RFXAP	SULT2B1	RNU7-1	CSPP1	MAD2L2	NDUFV2	ACTN4	TRIP13	COL4A1	SGSH	SLC30A9	PET117	CEP164	BRIP1	GALT	OPLAH	SDHA	SDR9C7	MAN2B1	RAD21	GCK	PIGB	PPM1B	LAGE3	SLC12A3	GCM2	IL6	SLC26A4	SALL1	NEUROD1	PIK3CA	NUP93	MCCC2	GATA4	GK	PFKM	SLC25A11	EPAS1	RAG1	KHK	TRIM28	CYP24A1	GATA3	VAC14	BAZ1B	PKHD1	DGUOK	SLC52A2	SLC1A1	NPHS2	DBT	IL17RA	MMADHC	KLRC4	AGXT	PHKG2	SCAPER	SLC22A5	LDHD	MYD88	PRDX1	ACE	ACSL4	OGDH	MSN	FLVCR1	ERCC5	FANCC	ATP7A	TMEM260	BRD4	UNC13D	ASPA	STK11	AMN	COL3A1	STAT1	PEX7	LMNB2	PLG	ATPAF2	XYLT1	STAT4	H19	ABCC2	MT-TH	AQP2	TP53	INS	G6PC3	MICOS13	BCKDHB	CHD4	IFNG	SLC16A1	JAG1	NEK8	POLG	ERAP1	FH	CPS1	VANGL1	BCL7B	SLC46A1	HSD11B2	CREBBP	GPHN	CFAP418	COL7A1	BBS1	CRKL	DIS3L2	CYP11B1	MME	EN1	ABCC6	FASLG	CHUK	IL1B	CD46	LYRM4	NDUFS8	NEU1	CDKN2C	HGSNAT	ARSK	XRCC2	TBC1D24	GLDC	C1QBP	FGF23	NDUFAF8	G6PD	DZIP1L	ALDH6A1	VAMP7	MKKS	KLF11	SLC6A2	FOCAD	SDHC	GPC3	HNF4A	NPM1	HELLPAR	COG1	SLC35C1	AGGF1	BUD23	NFS1	STX11	CAD	ALOXE3	CD109	NIPAL4	MIA3	COL4A4	CORIN	NDUFAF6	ITGB3	COX14	NDUFS3	GCLC	CHST14	TMEM138	LPIN2	TTC26	MT-TN	ZNFX1	DNASE2	WDR35	CD59	LAMA3	GYS2	AKR1D1	COPA	FANCG	APOE	SUCLA2	ACAT1	HRAS	MT-CO3	MYO5B	IL17RC	SLC52A1	BTNL2	YY1AP1	D2HGDH	CHRNA3	HPSE2	IFT122	ABCD4	FBXL4	UBE2T	FIP1L1	CYP11B2	CFH	OPA3	ZFPM2	TLR4	CYBC1	CEP19	CHRM3	APOL1	HPD	TSC2	ATP5F1E	SHPK	MNX1	ZNF592	AVIL	GALE	NDUFB8	WWOX	KAT6A	KCNJ1	SUOX	ALDH5A1	SMC1A	FOXI1	SLCO1B3	BLVRA	RMND1	NDUFA11	HLA-DPB1	EHMT1	AGA	KIAA0586	APC2	TP63	CTLA4	IFT27	TGM1	IDH2	ANO5	TAT	TNFRSF11B	SCO2	SAA1	LMNB1	ATP6V1B2	CLIP2	XDH	RFWD3	TMEM165	VPS50	PML	NDUFAF2	SREBF1	SLC2A9	CCN2	MYH11	DYNC2LI1	MLYCD	ADA	MDH2	REN	MRAP	PGAM2	BRCA1	NSD1	IRF5	UNC45A	SPINK5	KIF23	C1QC	FGFR2	SLC18A2	NTRK1	LMO1	NFU1	CDKN1A	AHI1	CEP83	DPYS	BBS4	HLA-DPA1	KCNE5	IFT80	PET100	BNC2	PCBD1	DACT1	DLST	CYP4F22	ITGA3	C1QA	SLC16A12	CLDN16	BBS12	IL7R	LTBP1	HDAC8	SLITRK6	GDF2	GTF2IRD1	DBH	GNS	DCXR	STX3	CHD7	PEX19	STXBP2	CDKN2B	SLC34A2	CTH	WDPCP	OAT	SARS2	STS	DYRK1A	SLC19A2	GALNT3	RFC2	FANCD2	MT-TT	TBL2	GEMIN4	F2	F5	CD81	ITPR3	GAA	CA5A	SOX9	MAF	STX1A	ITGB4	STAT2	SLC17A5	NOD2	DNAJC30	MT-TE	NIPBL	SRCAP	FIG4	MVK	ZBTB16	SLC35A2	L2HGDH	TIMMDC1	TRMT5	GANAB	ERBB2	IL12A	MANBA	TNXB	CCR6	SERPINF2	IL2RB	CACNA1S	SMC3	RFX5	MCFD2	PSTPIP1	COG6	KCNJ16	ARL6	IVD	SNAP29	PLOD2	MST1	KCNJ2	SLC6A18	CCR1	DCLRE1C	SLX4	MT-CO2	PEX5	BBS7	FANCL	ATRX	SIX1	STOX1	CDKN1C	F10	CYP2R1	SLC13A3	NDUFB11	IL1RN	ADNP	HADHB	RAD51	ARHGAP24	SDHAF2	CYP21A2
HP_ABNORMALITY_OF_URINE_CALCIUM_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_URINE_CALCIUM_CONCENTRATION	DNAJC30	CLDN19	VPS37D	SLC2A9	KCNJ10	PTH1R	SLC12A3	CLCNKB	GCM2	SLC34A1	TGFB1	CLCN5	CLDN16	GATM	MEN1	CASR	AMMECR1	METTL27	CDKN1B	ELN	ADCY10	MAGED2	CLCNKA	HNF1B	CFTR	KCNJ5	INSR	GTF2IRD1	HLA-DRB1	ATP7B	SLC2A2	KCNJ1	BUD23	SLC22A12	ATP6V0A4	PIGT	CYP24A1	AP2S1	CDKN2B	FCGR2A	BAZ1B	ALPL	FAM20A	OCRL	CDC73	BCL7B	MLXIPL	NDUFAF6	NCF1	CLDN10	BSND	EIF4H	GTF2IRD2	PHEX	LIMK1	FKBP6	FXYD2	SLC12A1	RFC2	CDKN1A	TBL2	CDKN1C	TMEM270	GTF2I	EHHADH	FGF23	SLC34A3	TNFRSF11B	PIK3C2A	CLIP2	CDKN2C	BTNL2	GNA11	STX1A
HP_ABNORMALITY_OF_URINE_CATECHOLAMINE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_URINE_CATECHOLAMINE_LEVEL	VHL	TOP2A	RET	NF1	SDHB	ALK	SDHD	SLC6A2	KIF1B	FH	SDHC	SLC25A11	MYCN	EPAS1	DBH	TMEM127	MAX	PHOX2B	MDH2	HACE1	DNMT3A	LMO1	SDHA	LIN28B	DLST	SDHAF2	CCND1
HP_ABNORMAL_HINDBRAIN_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HINDBRAIN_MORPHOLOGY	AMPD2	CEP290	FGF8	ADGRV1	FKRP	SEMA3E	ODC1	VPS37D	POU1F1	TMCO1	IL11RA	CUL4B	SDHD	POMT1	CPLANE1	RPGRIP1	GPC4	GRIA2	OTX2	PDYN	HYLS1	CPT2	SERAC1	B9D2	ZIC1	B3GALNT2	OXR1	BMP4	SMARCB1	OPA1	ASXL3	SPG11	SETD2	MT-TK	TMEM240	ALG1	FMR1	FAR1	PGAP1	IFIH1	DPYSL5	ATXN8OS	SEC23B	NSD2	ATP1A2	VPS51	RNF113A	SYT14	MFSD2A	NKX6-2	SH3TC2	MYO7A	ATP8A2	FOXC1	MORC2	SLC39A8	DYNC2H1	ATP2B3	SLC25A46	LETM1	ZIC3	TAPT1	TMEM67	MBTPS2	ZEB2	WAC	TMEM237	TPP1	SLC25A1	SKI	RBM10	CSPP1	TINF2	HNRNPR	DAG1	FDXR	NFIX	MFSD8	ARID1B	POLG	TUBA1A	ADGRG1	FGFR3	HK1	TBCE	KRAS	PTH1R	CRB1	POLR3A	TOP3A	STAG1	GEMIN5	TOPORS	RXYLT1	VPS4A	ERCC5	EXOSC9	KIF1A	CARS2	HSD17B4	KIAA0753	RPS6KA3	TRIP13	PIGN	DPH1	EOMES	WARS2	NFKB2	KIDINS220	TMEM218	ERCC8	TSEN54	POMT2	INTS8	PIGQ	MACF1	MKS1	CLTC	GMPPB	SLC1A3	FKBP6	NPHP3	CC2D2A	KIF7	MGME1	NCAPG2	ATAD3A	KATNB1	NMNAT1	UBA5	UFSP2	ITPR1	LARGE1	DPH5	DNMT1	POMGNT1	SOX3	CCND1	NAGA	TTPA	ANO10	ARID1A	COG1	LHX3	HLA-DQB1	PIK3R5	PIK3CA	TMTC3	ATN1	EBF3	CYP7B1	COL4A1	TCTN2	TDP1	ABHD12	BCAS3	POU4F1	SUFU	PRDM13	PEX2	FAT2	POMGNT2	USH1G	MINPP1	TERT	ASNS	EBP	LIG3	MRE11	NOP56	ZNF335	PNPLA6	CTBP1	TUBB2B	TRRAP	SIK1	PTEN	HTT	MAN2B1	PPP1CB	CRPPA	ZBTB11	LCA5	FTO	COA7	REPS1	SPRED1	EXOSC3	DPM2	RAD21	PCGF2	TUBB	NUP214	EXOSC2	SLC25A4	GPAA1	SEPSECS	OPA3	CAMTA1	SLC52A3	MAF	FOXF1	SRPX2	ERMARD	DHX30	AGTPBP1	FGF12	STXBP1	PLA2G6	BEAN1	TOR1A	TSEN15	COX20	GRM7	TCTN3	TGM6	MT-TL1	FRMD4A	RNF13	CLPB	COG5	SLC33A1	DHFR	TSEN2	THOC2	GOT2	NOTCH3	FLI1	SLC9A6	FCSK	SEMA6B	ZNF423	CACNA1G	TBC1D24	KIAA0586	GPC3	CDKL5	FANCI	MTHFR	CCDC32	PLP1	TWNK	ATXN10	TNPO2	WDR37	WDR45	ATXN1	COQ8A	VPS13B	FGF14	APC2	MAPK8IP3	RFWD3	TRMT10A	COG7	VAC14	ASXL1	BAZ1B	DCC	VHL	DARS2	PARN	CCDC22	SLC35A2	LRAT	DOK7	ZMIZ1	NRAS	JAM2	NOTCH2	PCDH15	KNL1	YIF1B	ALDH18A1	RPGRIP1L	MICU1	CASK	PIGG	CTSF	CRAT	SON	ATP6V1A	EIF4H	SHANK3	NDE1	STAG2	DNM1L	RBL2	KIF14	SPTBN2	SPTAN1	ARSI	FKTN	ERCC6	ROBO3	RAB3GAP2	SOX11	LRRC32	CARS1	PITRM1	LAMA1	PDGFRB	DNAJC5	COQ4	POLR3K	RFC1	PPP2R2B	AP4E1	FGFR1	SPART	NFIA	MED23	ATXN2	HNRNPH1	TRAPPC11	TGFBR2	GLI2	ACD	STUB1	PTF1A	BCORL1	TRAPPC9	GRM1	KCNMA1	BUB1	XRCC1	NDUFA8	VPS35L	BRD4	PCYT1A	KATNIP	KAT5	CPSF3	GDAP2	FA2H	SACS	ATCAY	CACNA1A	PRDX3	KCTD7	C19orf12	CSF1R	GPKOW	XRCC4	PLG	METTL27	TKFC	INPP5E	MBD5	CNTNAP1	ARMC9	COQ2	NDUFS4	UFM1	UBTF	CDK5	CLN8	TONSL	GJB2	GLS	SIX3	POLR3B	SLC25A22	BUB1B	TMEM231	PI4KA	WDR81	AHDC1	IFT80	SMPD4	GNAO1	CHD4	CPLX1	FTL	FANCL	PMM2	CNP	SNX14	GTF2H5	GRIA3	PDGFB	FRRS1L	SCARB2	BICD2	DPAGT1	EXOSC8	CP	CLN5	EXOSC5	TBC1D20	CHMP1A	FAT4	YME1L1	VANGL1	BCL7B	GFAP	FGFR2	CREBBP	SETX	PMPCB	PPP1R21	GPHN	GON7	FOXH1	MAPKAPK5	CDH23	NCF1	SLC25A19	MYH3	NUP88	PPP1R15B	IFT140	TBP	TUBB3	RERE	SAMD9L	EN1	FUS	ARX	TRAPPC6B	TMEM216	ACY1	ARCN1	RAC1	AHCY	SNORD118	MED27	CLN3	PRRX1	OPHN1	POLR1C	WDR73	TTC19	ELOVL4	ALG3	MUSK	CWF19L1	IFT172	DKC1	ATP6AP2	MLXIPL	CCDC88A	TAOK1	YRDC	TUBGCP6	B9D1	DOCK6	TOE1	MARS2	SMARCC2	POMK	MSTO1	PHGDH	BICRA	USP45	CEP55	HEPACAM	MPL	ALG6	CIT	GLI3	SHH	CIZ1	PNKP	STT3B	ERCC3	SH2B1	SCN1B	PLAA	PTRH2	NAXE	ATP1A3	B4GALT1	NOVA2	STT3A	OSGEP	KIF1C	PRNP	TRPC3	SPG21	VPS53	PDCD6IP	CEP85L	MYO5A	SCN8A	ZFYVE26	OFD1	SETBP1	VRK1	COQ9	TOGARAM1	PPP2R1A	SOX4	NSRP1	SPG7	MAG	H3-3A	AP3B2	GRID2	POR	CYB5A	SOX2	PNPT1	SMPD1	WASHC5	DNMT3A	KCND3	TMEM107	ALG9	RPL10	AP1S2	B4GALNT1	NUBPL	TRMT1	BUD23	IFRD1	PEX10	CKAP2L	FARS2	NEK1	SASS6	GAN	SMO	CEP104	ATG5	CIB2	SLC25A24	RELN	DPM1	NPHP1	LONP1	SLC9A1	AHI1	LIPT1	GALC	GDF6	LNPK	RAB3GAP1	PPP1R12A	GRIK2	CWC27	TBL1XR1	MICOS13	GUCY2D	HESX1	VPS11	TMEM138	UBE2A	BCOR	LEMD3	PIGA	HYCC1	NODAL	ERCC1	ATP6V0A2	MAST1	SYT2	TBCK	DPF2	DISP1	AKT1	PEX16	RPE65	COL3A1	PIGU	MDH1	PDHX	CRX	MFF	USP9X	JAM3	EMC1	NEUROD2	TECPR2	SDHA	RNU4ATAC	GAD1	TK2	PUM1	RAPSN	AP4S1	FAM149B1	ADPRS	SALL1	PDZD7	USP18	NONO	PORCN	WNT1	SC5D	ROGDI	PCLO	NDUFA9	WDR4	MEF2C	SMARCE1	DLL1	CTSK	SLC20A2	EEF2	VLDLR	FBXL4	MTHFS	DAB1	FLNA	RNASEH2A	DNAJC3	IDH1	VPS41	DYNC2I1	B4GAT1	PIGK	NARS2	WDR35	FLVCR2	SYNE1	IQCB1	COL18A1	RRM2B	ARL3	DHCR7	ZNF592	PDHB	CBY1	TUBB4A	SMARCA4	PSAT1	TRAPPC4	ESPN	L2HGDH	CACNA2D2	GPX4	PLK4	SCN2A	SUOX	RNF216	RTEL1	ALDH5A1	SMC1A	TAF1	EXOC7	KCNC3	TCTN1	RDH12	GFM2	ASPM	PMPCA	KMT2C	ERLIN1	LMNB1	NDP	ATP13A2	SPTLC1	BAP1	TRAPPC12	SCYL1	QARS1	PACS1	NALCN	SRD5A3	C2CD3	ARNT2	DMXL2	MAN1B1	HDAC4	CYP27A1	HRAS	POLG2	GTF2E2	LAGE3	NF2	DEGS1	CEP41	CDC42	GPSM2	MME	INPP5K	ATR	RNASEH1	ATP6V1B2	RUBCN	CLIP2	COASY	EVC2	FIG4	PRKDC	CEP120	GJB1	ZNHIT3	SMARCD1	MID1	FOXRED1	MT-CYB	VPS50	GAS1	PDE6D	GBA2	L1CAM	ERF	BUB3	KCNJ10	SDHB	FBN1	FANCB	MCOLN1	PRUNE1	KCNJ13	RTTN	CHD7	CCDC88C	CDC45	AP4B1	EPRS1	CYFIP2	TUBGCP4	CDKN1C	ARHGEF2	POGZ	ALG12	MAP2K2	AFG3L2	DOHH	EPG5	ATP6V0A1	EXOC2	NSD1	HEXB	CENPF	TULP1	TSEN34	CENPE	ATP5F1A	CLCN3	STIL	PIGT	TGIF1	CYB5R3	MTM1	ELN	LAMB1	POLA1	FUZ	PCNA	WHRN	APTX	TRAF7	DCHS1	SIL1	WDR26	ALS2	ALX4	MDH2	MAP3K7	ZSWIM6	DISC1	NFASC	TBC1D2B	ARF1	EXOSC1	GNAQ	EZH2	PIGP	TMX2	LYST	NDUFA6	WWOX	BRF1	ATXN3	ZPR1	BTD	ELOVL5	KCNA1	SIGMAR1	CILK1	EHMT1	ZIC2	KCNQ1OT1	VARS1	COG8	DACT1	SDHC	PLD3	TGFBR1	TXN2	TP53RK	PAFAH1B1	AFF3	AIPL1	MYMX	HDAC6	SPATA7	SLC44A1	TXNDC15	MYOD1	PRKCG	RNF170	PLCH1	MT-ATP6	RHOBTB2	PPIL1	CEP164	RAB18	ARG1	UCHL1	GRN	SMG9	THG1L	PIBF1	CLCN7	VARS2	HDAC8	ACO2	SIK3	ADSL	RORA	GTF2IRD1	KCNC1	OCLN	GNS	NUP133	DKK1	KDM1A	SMARCA2	TMEM94	SUMF1	BCS1L	CDON	PROKR2	SOD1	RARS2	RNU12	BCL11A	TRIM8	MYMK	CNTNAP2	GTPBP2	NGLY1	USH1C	PTCH1	LAMA2	NDUFAF4	MPLKIP	RAB11B	TBCD	TDGF1	SLC39A14	SCO2	GRIN1	ATG7	TREX1	RD3	VWA3B	RFC2	NADK2	BRAT1	TBL2	GEMIN4	PPFIBP1	PRRT2	ARL13B	IGF2	RRAS2	DOCK7	BLTP1	GTF2I	IMPDH1	TUBB4B	MECR	MRM2	DYNC2I2	MED12	PROP1	NDUFA1	TFAP2A	NELFA	TERC	KCNQ1	HHAT	EVC	STX1A	STAT2	PAX2	DNAJC30	CTSD	ZNF292	KLLN	CDC42BPB	CERS1	MT-TE	CEP57	ATP6V1E1	DYNC1H1	IER3IP1	COQ5	LHX4	ERCC2	USF3	DENND5A	IBA57	HMGA2	PEX6	NUP37	LMX1B	RBM8A	AP4M1	TARS1	MAN2C1	IRF2BPL	PDHA1	BCAP31	SMC3	CDC40	SF3B2	COG6	HERC1	ACTL6B	DHDDS	ATXN7	INTS1	PIEZO2	SLC5A6	HNRNPH2	TWIST1	GJB6	ARID2	ABAT	CUX2	NDUFS1	GJA1	CAMK2B	MVK	VANGL2	KANSL1	SQSTM1	CTNNA2	NIPBL	GTF2IRD2	PHEX	LIMK1	DHX37	RBBP8	CHP1	SLC18A3	DLG4	USH2A	TMEM270	MRPS34	AARS2	WLS	ESCO2	AIMP2	MAB21L1	OTUD5	COX4I1	SLC13A3	PIGS	SHQ1	TTBK2	SCN1A	EP300
HP_PROMINENT_DIGIT_PAD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_DIGIT_PAD	CREBBP	PKDCC	TCF4	KANSL1	ARID1B	EZH2	EMC1	EP300	H3-3B	PRR12	ZNF292	RPS23	GJA5	CTCF	ATN1	TBL1XR1	TWIST2	KDM6A	FOXP1	DHX30	RUSC2	WAC	PAK3	MED12	NR2F1	BCOR	DEAF1	KPTN	NFIX	NAA10	H4C5	MAP1B	KMT2D	ZNF407	HNRNPH2	GJA8	MED12L
HP_LONG_PALM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_PALM	SMS	UBE3B	POR	UPF3B	SLC2A10
HP_BROAD_THUMB	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_THUMB	NSUN2	GNAS	EXOSC2	GATA4	NOG	KCNH1	EZH2	DHX30	FGFR2	GPC4	FGFR1	NSD1	ACAN	SNIP1	BMPR1A	FLNA	HPGD	EP300	FGFR3	MEGF8	COL2A1	PCDHGC4	MEIS2	SALL1	RBM8A	CREBBP	PACS1	H3-3A	GLI3	HOXD13	MAN2C1	SUMF1	WNT5A	CHST3	TBX5	LIG4	DNM1L	GPC3	G6PC3	MED12	PTEN	EED	HNRNPR	SMO	OTUD6B	TWIST1	BPTF	SMOC1	DVL3	RAB23	PYCR2	FLNB	USP9X	SATB2	DVL1	GJA5	FGF9	SUZ12	PSMD12	BMP2	TTC26	XYLT1	MAP3K7	ALX4	NXN	GJA8	RLIM	SRCAP	INPPL1	MSX2	B3GAT3	PUF60	PRKD1	SIAH1	POGZ	GDF5	BICRA	ADNP	DACT1	PRKG2	ROR2
HP_SLENDER_TOE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLENDER_TOE	SMS	TRMT10A	VPS13B	MTM1	B4GALT7	PPP1R15B
HP_ABNORMAL_LONG_BONE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LONG_BONE_MORPHOLOGY	ARSB	COL2A1	VPS37D	CYP27B1	MECOM	POU1F1	LRP4	GDF5	CTCF	BHLHA9	HS2ST1	TREX1	IFT43	HOXD13	ZBTB20	RPGRIP1	GPC4	LBR	ZNF699	HYLS1	B9D2	EP300	RNU4ATAC	TERT	RMRP	SALL4	GNPTAB	CAMK2A	PRKAR1A	FZD2	CDT1	TCIRG1	MEGF8	TRPV4	SFRP4	TCTN3	PEX3	SLC26A2	TBXAS1	DYNC2H1	TPM2	PTPN11	ZIC3	TAPT1	CHSY1	PUS3	ZEB2	B4GALT7	TNFRSF11A	IARS2	CCDC8	COL10A1	PEX16	IDH1	OBSL1	CFL2	PCNT	GLI3	SKI	RBM10	LARP7	RINT1	HNRNPR	NFIX	RPGRIP1L	VPS33A	TMEM67	ZNF407	KCNJ2	PALB2	FGFR3	COL1A2	PTH1R	TWIST2	CREBBP	POLR3A	CDC6	TPO	NPR3	SP7	SATB2	BRCA2	H3-3B	DDRGK1	DHODH	NADSYN1	DVL1	FGF9	RPS6KA3	TRPS1	CHN1	PEX5	CFAP410	WNK1	KAT6B	RPL26	SQSTM1	TBX22	COL1A1	BMPR1B	NEK8	FGF10	PIGQ	SCUBE3	MKS1	GNAS	BPNT2	LONP1	C12orf57	FKBP6	DYM	NMNAT1	HNRNPA2B1	KIF7	RUNX2	PEX6	HSPG2	CSPP1	COG1	LHX3	MAD2L2	SMARCAL1	CHD7	SLC39A13	ACP5	COL11A2	NEK9	LTBP3	TRAF3IP1	CEP164	PIK3R1	BRIP1	ANO5	EXT2	COLEC11	COL9A1	TBCE	EFL1	MAFB	SIK1	B3GALT6	FBN1	PTHLH	MAN2B1	SRY	GNAS-AS1	RAD21	FLNB	LETM1	EXOSC2	TNFSF11	SNORD115-1	MAF	ATP7A	EZH2	DHX30	ADA	PTDSS1	SHOX	GHR	GRM7	HDAC4	MEIS2	ABCC9	SEC24D	GSC	INTU	SRP54	ATP6V1B2	SALL1	TCF4	SOST	WDR19	FLNA	UFSP2	WNT5A	GPC3	TTC21B	CDKL5	FANCI	PYCR1	SGMS2	RAG1	LRP5	KIF22	PRMT7	WDR35	PLXND1	VPS13B	CANT1	MAPK8IP3	RFWD3	VAC14	BAZ1B	PRKACA	DVL3	ACAN	RIPK4	IFT122	ZMIZ1	LZTR1	VCP	NOTCH2	PEX10	FLI1	SON	EIF4H	CKAP2L	PEX11B	IFT140	MCTP2	TMEM53	LZTFL1	NXN	ANKH	GJA8	PAM16	FAM111A	SNRPN	SRCAP	CEP290	KIF1A	SPART	COMP	MASP1	IFT80	CASR	TRIP11	SOX9	DUOX2	MMP13	HNRNPH1	DYNC2I1	MATN3	PEX12	ACSL4	SLC35D1	PEPD	PLEKHM1	HBB	PMP22	FDFT1	PIK3CD	ACVR1	AMER1	EIF2AK3	FANCC	P4HTM	PRKACB	VPS35L	BRD4	LMBR1	NEK1	MGAT2	TYROBP	FGFR2	POLRMT	PRDM5	CENPT	TSHB	MMP9	QRICH1	NF1	MKRN3	FGFR1	PEX7	COL9A2	NSD1	COL11A1	NANS	MAP3K7	TCTN2	PEX13	MEG3	CSF1R	IFT52	BCOR	OCRL	CTBP1	AMMECR1	RRAS2	METTL27	XYLT1	TSHR	ORC6	INPPL1	TGFB1	FGFRL1	TONSL	SMOC1	ZNF141	WDR62	SLC25A22	G6PC3	OSTM1	MAGEL2	MRAS	GNAO1	PEX1	GLI1	JAG1	OTUD6B	WNT7A	MAP2K2	RAB23	BCL7B	MPZ	TRAIP	IFT81	NPR2	PEX19	NCF1	HOXA13	FAM20C	MYSM1	SUZ12	CRKL	KDELR2	TRPV6	FKBP10	ARX	ALX4	TMEM216	SMAD4	ARCN1	USB1	RECQL4	PORCN	KRAS	ALG3	MUSK	IFT172	SLC34A1	PISD	RASA1	IFIH1	GPC6	SUFU	DONSON	ERCC6	MLXIPL	B9D1	HERC2	UGP2	CRTAP	NEU1	GMNN	BICRA	MAPK1	CEP120	ARSK	XRCC2	CENPE	HEATR3	ALPL	ROR2	GJA1	COL9A3	FIBP	SLC10A7	NSUN2	GATA4	SCN1B	NOG	NEB	STX16	BMPR1A	PEX2	HPGD	RPS19	HOXA11	EIF4A3	GLB1	SETBP1	BRAF	HDAC6	DNMT3A	SETD5	EVC2	KCNH1	SBDS	NUP85	DLK1	RAD51C	AGPS	H3-3A	TWIST1	POR	RAG2	PUF60	SF3B4	NSMCE2	ORC1	KCNJ8	FANCF	RPL13	DCHS1	SLC2A2	HNRNPA1	BUD23	CTC1	SMO	KLHL41	RAF1	MET	TBX4	TYMS	MIA3	SH3PXD2B	NOTCH3	CWC27	GJA5	HESX1	LIFR	ESR1	P4HB	FANCM	LPIN2	HINT1	FERMT1	TTC26	CTNS	PLK4	SDCCAG8	IDS	SERPINH1	ALG9	TBX15	PIGU	DDR2	AIFM1	NEUROD2	ORC4	IDUA	GALNS	SLC34A3	B3GAT3	FANCE	LMNA	MAP2K1	FANCG	EFNB1	ANAPC1	PEX26	CC2D2A	TP53	FGF23	GUSB	EXTL3	CYP3A4	FANCB	CUL7	ARSL	KIAA0753	UBE2T	SHH	GAN	IPO8	ACTA1	LEMD3	DPYD	FBXL3	TMEM38B	TBC1D2B	ATP6V0A2	RSPRY1	TBC1D7	NPHP3	TGDS	LIG4	MMP2	CHEK2	EXT1	MED12	CREB3L1	PARN	KAT6A	GPX4	RRAS	SCN2A	BMP2	SMC1A	RIT1	HS6ST1	CD96	TINF2	LAMA5	TCTN1	SLC29A3	CYP19A1	ADAMTS10	ALG12	DYNC2I2	USP9X	ASXL2	MTX2	PCYT1A	PLCB3	TXNDC15	IYD	LOXL3	HSPA9	PSMD12	TBX3	KNSTRN	AGA	DMXL2	KIAA0586	DUOXA2	PTCH1	SKIC3	CA2	NPM1	PRKG2	FANCA	PHYH	INPP5K	ATR	GLE1	GATAD2B	PDE4D	TNFRSF11B	SLC2A10	CLIP2	FIG4	PTEN	TMEM165	CYP2R1	SVBP	TBX5	CPLX1	EBP	CSGALNACT1	SPTBN1	DYNC2LI1	PWRN1	ENPP1	NRAS	CLCN5	MIR140	CDC45	ADAMTS2	WRAP53	ERCC8	TG	PWAR1	COLEC10	NSD2	POLE	OFD1	BRCA1	PACS1	NDUFAF6	DMP1	PDE3A	SCARF2	PITX1	P3H1	REV3L	LTBP1	CHST3	CLCN7	RETREG1	B3GLCT	ATRX	PIGT	UNC45A	POLR1A	PHEX	BPTF	AFF4	ELN	ERCC1	IFT57	RB1	ATRIP	CASK	RSPO2	SNX10	IHH	SIL1	WDR26	CCN6	ERCC4	LRRK1	NDN	HARS1	COG4	PEX14	CBS	THRB	RBBP8	RLIM	SMARCA2	GGCX	PIGP	MSX2	BRF1	ZPR1	KCNN3	KCNE5	SNRPB	GPR101	CILK1	POGZ	SOS1	CCNQ	ANTXR1	DACT1	VDR	TERC	CEP152	SMAD6	TREM2	ITCH	AFF3	COG5	PDGFRB	FN1	EXOC6B	POP1	SCN9A	IL7R	CBL	TMEM107	EHHADH	SLCO2A1	HDAC8	SIK3	AIP	SUMF1	NHP2	GTF2IRD1	TENT5A	PAPSS2	GNS	NOP10	FGF16	POC1A	IL2RG	FBN2	RTEL1	RBPJ	MRPS28	TRIM8	BGN	MACROH2A1	DHCR7	SLX4	MGP	TBCD	TMEM237	EED	RFC2	FANCD2	NHS	TBL2	GEMIN4	TRIM37	NEPRO	ZNF469	TUBB3	GTF2I	TRAPPC2	TMEM251	PROP1	TFE3	PIK3C2A	PRKD1	SIAH1	NKX3-2	ANTXR2	HHAT	EVC	CENPJ	IL6ST	ADAMTSL2	STX1A	SLC17A5	KCNA1	B2M	DNAJC30	CDKN1C	NPAP1	PTCH2	ESCO2	CDC42BPB	GNPAT	BCR	NIPBL	LHX4	SNIP1	PCDHGC4	GNPTG	SNORD116-1	SLC35A2	SUCLG1	CCDC134	RBM8A	NPHP4	SOS2	DKC1	MAN2C1	RAB33B	SMC3	SPRED2	DNM1L	DNAJC21	SF3B2	MTAP	KIF15	SLC5A5	RASA2	PIEZO2	TMEM231	CPLANE1	RAB3GAP2	PLOD2	PYCR2	MYF5	GORAB	DCLRE1C	KANSL1	PLOD3	GTF2IRD2	LIMK1	FANCL	LMOD3	PIGL	RTL1	FAT4	GRIN1	TMEM270	WLS	RET	INVS	NSDHL	MED25	ZMPSTE24	PIGS	APC	CLTCL1	ADNP	NPHP1	IDH2	HEPHL1	RAD51	IQCB1	PNKP
HP_UNICORONAL_SYNOSTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNICORONAL_SYNOSTOSIS	CEP120	TWIST1	MSX2	PIGO	ZEB2	TCF12	SMO
HP_BICORONAL_SYNOSTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BICORONAL_SYNOSTOSIS	ZIC1	FGFR2	MSX2	ERF	TCF12	SCUBE3	H4C9	FGFR1	RECQL4	SMO
HP_MULTIPLE_SUTURE_CRANIOSYNOSTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_SUTURE_CRANIOSYNOSTOSIS	HIRA	ERF	TBX1	FGFR2	SEC24C	GP1BB	ARVCF	JMJD1C	COMT	UFD1	TWIST1	RREB1
HP_ANTERIOR_PLAGIOCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_PLAGIOCEPHALY	ATP6V1B2	TBC1D24	TCF12	ALX4	PIGO
HP_ABNORMALITY_OF_FONTANELLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FONTANELLES	VPS35L	LRP2	SLC26A4	ASPA	COX5A	H19	CTSK	POU1F1	CLCN3	NKX2-5	NKX2-1	NDE1	TSHB	FGFR2	TSHR	PEX3	LTBP4	LMNA	COL11A1	ZIC1	ETFA	MEG3	HPGD	RNU12	GNPTAB	LMOD3	MVK	KLHL40	IFT140	PEX5	NSMCE3	DPYSL5	SMG9	COL11A2	PEX14	ATP6V1A	SHPK	ALDH18A1	PEX26	INPPL1	ZMPSTE24	PEX10	ATP6V0A2	AGT	PAX8	LIG4	MMP2	MPDU1	ANKRD11	MED12	PEX19	ARX	SKI	GLIS3	RBM10	PEX1	SIX2	ACTG1	DSE	PIGQ	COL1A2	FLNA	CHUK	MTX2	FAT4	ALPL	CREBBP	POLR3A	PEX6	TPO	GJA1	DVL1	SEC23A	HSD17B4	IYD	HNF1B	FAM20C	TBCE	PPP2R5D	UBR1	NEB	NPHP3	KIF7	HDAC4	ASXL3	HRAS	DUOXA2	RUNX2	PEX13	LHX3	IGF2	NEPRO	ADAMTS2	ETFB	CYP27B1	BMPER	ATR	PROP1	PEX12	CRTAP	PEX11B	FIG4	PEX2	GH1	KCNQ1	AGTR1	MID1	MAF	PEX16	CDH11	GLI3	WT1	ROR2	CYP2R1	SOX9	NSUN2	CTSD	MYCN	SETBP1	SPTBN1	PLAGL1	GNPAT	ATP6V1E1	LHX4	PTDSS1	GPX4	CDC45	CAV1	ACTA1	TG	REN	RECQL4	INTU	COG4	CDKN1C	ATP7A	KLHL41	DLK1	POR	FGFR3	ACTB	COL1A1	PYCR1	GRB10	WNT5A	ORC1	P3H1	DCHS1	ANTXR1	B3GLCT	SLC5A5	SLC25A24	ZSWIM6	TWIST1	BANF1	ERCC1	SH3PXD2B	EP300	LHX1	MSX2	HESX1	CHST14	SMC3	ETFDH	USP7	ALG8	NAA10	PIGA	ALG1	ATRX	NFASC	RTL1	ALG9	KLF1	PAM16	FAM111A	NLRP3	HYMAI	MTOR	MASP1	SLC34A3	ACE	RNU4ATAC	DUOX2	PIEZO2	EBP	FOXE1	NDUFAF3	HOXD13	KCNQ1OT1	AMER1	RPS6KA3	VARS1	VDR	TALDO1
HP_ABNORMALITY_OF_CRANIAL_SUTURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CRANIAL_SUTURES	CTSK	AASS	CYP27B1	IFT122	POU1F1	BMP1	IL11RA	CTCF	HNRNPU	LMNA	GPC4	ZNF699	FLNA	CASZ1	COL11A1	ZIC1	PURA	MEGF8	BMP4	PPP3CA	ORC1	ADAMTS3	SETD2	EXTL3	PDX1	GNPTAB	FGFR2	IGF2	IFT140	CDT1	TCIRG1	PEX14	ASXL1	ATP6V1A	TCF12	SPECC1L	HSPG2	FAM111A	SEC24D	ATP6V0A2	RSPRY1	GP1BB	SLC39A8	GLI3	TAPT1	LIG4	MMP2	ZEB2	ANKRD11	TGFBR2	B4GALT7	ZMPSTE24	MED12	RREB1	CREB3L1	KAT6A	PCNT	SKI	KDM5B	NFIX	ORC4	DSE	COL1A2	MTX2	CREBBP	POLR3A	CDC6	TPO	SP7	H3-3B	ERCC5	HSD17B4	CYP26B1	NARS2	IYD	DPH1	WNK1	YY1	SMO	AGO2	TBX1	PRDM16	SCUBE3	STAT3	COLEC11	BPNT2	IL6ST	HDAC4	ASXL3	FGFR1	DUOXA2	RUNX2	HNRNPK	GTF2E2	IFT43	APC2	ZFHX4	LHX3	ADAMTS2	PDPN	MMP14	PIGO	SMARCD1	SETD1A	KCNJ11	SLC2A10	ATP6V1B2	FIG4	KANSL1	MAP1B	TBCE	CEP120	P4HB	DPF2	MID1	MAN2B1	PPP1CB	CYP2R1	SC5D	ERF	KDM4B	TNFSF11	MAF	ATP7A	ALX4	ERMARD	FBN1	GABRD	STXBP1	PTDSS1	RTTN	FGFR3	SLC25A24	CDC45	TG	ATR	REN	CDKN1C	FOXG1	KRT5	FBLN5	CWC27	SLC12A6	DMP1	NOTCH3	ACTB	NSD1	GRB10	DONSON	SCARF2	P3H1	DDB1	LTBP1	ERCC6	ADAMTSL1	CLCN7	RETREG1	NFIA	ADARB1	ANTXR1	B3GLCT	PIGT	MMP23B	VAC14	COMT	POR	AFF4	AKT1	CDK8	EP300	SEC24C	NOTCH2	ATRIP	SMAD3	SON	USP7	SNX10	B3GALT6	NAA10	HUWE1	MAP3K7	RNF125	GJA8	PAM16	RBBP8	ZNF462	TLK2	IFITM5	SRCAP	MSX2	KIF1A	ALDH18A1	THRA	MASP1	ACE	DUOX2	POLA1	POGZ	CCNQ	COL1A1	KCNQ1OT1	AMER1	KRT14	VDR	COL25A1	TGFBR1	ROR2	CEP152	ASPA	TWIST1	H19	CLCN3	TSHB	MEG3	CCBE1	SCN9A	RNU12	FAT4	SPEN	SMG9	ORC6	ENPP1	ADSL	AGT	IPO8	EFNB1	H4C9	TENT5A	FREM1	PEX19	WDR35	AHDC1	BCL11B	CEP57	GLIS3	CHD4	PEX1	KRAS	LEMD2	SMAD6	GTF2H5	SIX2	MAPK1	ACTG1	ALPL	PSAT1	RAB23	TRAIP	PPP1R21	AIFM1	MPLKIP	KDELR2	LUZP1	FKBP10	WDR19	PPIB	RECQL4	DDX6	TMCO1	PPFIBP1	CDH11	FLNB	GPC6	KCNAB2	PROP1	ABCC8	CRTAP	GMNN	BICRA	CHD5	GH1	RBM10	KCNQ1	AGTR1	CENPE	CENPJ	SEC23A	MYH3	KPTN	TBC1D24	ESCO2	ERCC3	NSUN2	ELN	SH2B1	ZNF292	SETBP1	LRP5	RERE	ATP6V1E1	LHX4	ERCC2	FAM20C	HIRA	PCDHGC4	RPS19	COLEC10	SLC35A2	PRKCZ	LMX1B	PPP2R1A	RAC3	NSRP1	CCDC134	NUP85	TOGARAM1	DLK1	TARS1	DNMT3A	IFT52	ARVCF	TMEM216	PTEN	CHST3	PRIM1	PDGFRB	HERC1	DCHS1	CARS1	SLC5A5	NUP188	GCK	IRX5	BANF1	PLOD2	SH3PXD2B	RNF113A	GJA5	HESX1	CHST14	TANC2	SMC3	UBE4B	INTU	MESD	PYCR1	PLK4	PIGA	PHEX	ERCC1	RTL1	LEMD3	HPGD	GPC3	EXOC8	NLRP3	INS	JMJD1C	PTCH1	OTUD5	SLC34A3	B3GAT3	RNU4ATAC	ALG9	RPS6KA3	TBCK	PRKG2	UFD1	ARID2
HP_METOPIC_SYNOSTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METOPIC_SYNOSTOSIS	HERC1	HNRNPK	CDK8	FGFR1	PPFIBP1	PIGA	PCDHGC4	GLI3	PIGT	IL11RA	TMEM216	PTCH1	ERF	SIX2	ASXL3	DDB1	GPC4	OTUD5	GPC3	WDR35	FREM1	SON
HP_FACIAL_SHAPE_DEFORMATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_SHAPE_DEFORMATION	PAX2	PBX1	REN	CEP55	AGT	ITGA8	FGF20	AGTR1	HIBCH	ACE	NPHP3	UBA1	GFRA1	MAN2B1	PKHD1
HP_FRONTAL_HIRSUTISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRONTAL_HIRSUTISM	CREBBP	FLNA	RTL1	DLK1	CKAP2L	TASP1	EP300	MEG3	SLC25A12
HP_ABNORMALITY_OF_MOUTH_SIZE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_MOUTH_SIZE	PIGN	WDR4	GABRA3	IARS2	SEMA3E	VPS37D	HSPG2	TMCO1	CTCF	CUL4B	HS2ST1	HECW2	ZBTB20	GPC4	OTX2	RTL1	ZNF699	CASZ1	COL11A1	FAT4	SMARCB1	ORC1	ADAMTS3	CANT1	SMARCE1	EXTL3	GNPTAB	FGFR2	CAMK2A	PIGL	IFT140	PGAP1	CDT1	DPYSL5	COL11A2	RNF113A	DHCR7	GLB1	ZMPSTE24	TCF4	GP1BB	LGI3	MED13	TWIST2	SMARCA4	FBN1	LIG4	B4GALT7	CAMTA1	MED12	RREB1	KAT6A	SEPTIN9	TPM2	LARP7	NALCN	CD96	ARID1B	SCN1A	ORC4	DSE	AP2M1	MED12L	FLNA	BIN1	MYH3	CREBBP	POLR3A	CDC6	STAG1	GJA1	MLXIPL	TNNI2	SP7	MTX2	RPS6KA3	CHRNG	BBS7	TBX1	PRDM16	SPEG	SH3PXD2B	PACS1	MKS1	PIGF	APC	BPNT2	FKBP6	UBE3A	ASXL3	KATNB1	NMNAT1	SKIC3	ARID1A	COG1	PQBP1	ZNF526	PDPN	BRPF1	CDC42	SMARCD1	WAC	MED13L	SETD1A	PRRX1	GATAD2B	POU4F1	GNAI3	CLIP2	SUPT16H	TUBB	DHCR24	SPEN	TRRAP	SCYL2	ACTG1	KLHL15	DPF2	ROR2	LMNA	PTEN	ZNF148	SATB2	SOX9	SYNGAP1	PCGF2	TMEM147	PIGB	MAF	KIF7	GABRD	CHD2	SOX4	STXBP1	RTTN	CHD7	ADNP	GNB2	CDC45	RIPK4	AP4B1	IGF1R	MYBPC1	ABCC9	POLR1D	GSC	TCOF1	PAX3	ZMYND11	ATP6V1B2	POGZ	SPRED2	UBE3B	TASP1	TBC1D20	ACTB	MADD	GRB10	DONSON	SMS	SCARF2	CENPF	DDB1	AP4S1	GPC3	KIF15	WNT3	AKT3	MYT1L	SRCAP	ATRX	IDUA	CDK13	MECP2	MMP23B	MAPK8IP3	TRMT10A	COG7	COMT	ASXL1	BAZ1B	ELN	ANKRD11	CLCF1	POLA1	EP300	ZMIZ1	TMEM67	SEC24C	NOTCH2	ATAD3A	NEB	STRADA	DVL1	ERLIN2	DCHS1	EIF4H	H4C11	EDN1	OCA2	HUWE1	SOX6	COL7A1	SET	FREM2	NXN	RNF125	PSPH	DCPS	SOX11	RLIM	TLK2	SMARCA2	KCNH1	AP4E1	NFIA	RAB3GAP1	AUTS2	NONO	KCNN3	TRIO	FLCN	PTDSS1	CDK19	SNRPN	KDM3B	TBX4	NFIX	RAF1	ATIC	DACT1	ADAT3	PPM1D	SH2B1	MGAT2	KAT5	RPL10	ITGA3	CLCN3	KCNK4	ACTL6B	CENPT	COL3A1	AFF3	QRICH1	HIVEP2	HDAC6	POLR1C	MAP3K7	MEG3	RYR1	CCBE1	TTN	TRIP4	SSR4	AMMECR1	METTL27	ATPAF2	MBD5	SKI	SLC12A2	ALDH18A1	ORC6	MTOR	POLD1	ADSL	THUMPD1	PHACTR1	H4C3	GTF2IRD1	GNS	PIK3CA	MMP1	CEP57	PMM2	LEMD2	PRPS1	MYL11	MAPK1	BCL11B	ECEL1	EXOSC5	TMEM70	BCL7B	TNNT3	MAPRE2	NEXMIF	SEC23A	TRIP12	NCF1	FAM20C	CRKL	FBXO11	PPP1R15B	LUZP1	SIN3A	SMAD4	TXNL4A	RFC2	RECQL4	TBL2	UBE2A	PACS2	WDR73	MUSK	SOS1	DLK1	GTF2I	ATP10A	AGA	KCNAB2	RALGAPA1	DDX11	BPTF	SMARCC2	PIK3R2	GMNN	KDM6B	ADAMTSL2	STX1A	HEATR3	SLC2A1	LTBP3	DNAJC30	NSUN2	CDC42BPB	PLCB4	MDM2	RERE	BCR	OSGEP	SNIP1	BMPR1A	NR2F1	YWHAE	DPYD	HIRA	KARS1	CAV1	H4C5	INSR	EIF4A3	PRKCZ	SETBP1	CACNA1C	TRMT5	LMX1B	TAF6	AP4M1	H3-3A	CHSY1	POR	ARVCF	SF3B4	CHST3	ALG9	AP1S2	KCNJ8	SF3B2	PAFAH1B1	POLR1B	BUD23	CRLF1	SLC25A24	PIEZO2	ZSWIM6	KMT2B	HNRNPH2	IRX5	TWIST1	ARID2	MCM5	SON	CHST14	RAI1	UBE4B	BMP2	CCND2	B3GLCT	PIGA	GTF2IRD2	KCNMA1	NRXN1	LIMK1	SCNM1	TP63	PIGU	TMEM270	WLS	RNF2	MAP2K1	JMJD1C	PTCH1	GALNS	COL2A1	ATP6V0A2	B3GAT3	OFD1	SALL1	SLC6A1	CA2	GBA1	UFD1	RSPO2	AKT1	TALDO1
HP_ABNORMALITY_OF_MOUTH_SHAPE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_MOUTH_SHAPE	BRD4	PCLO	PDZD8	WDR4	MEF2C	MGAT2	HS6ST2	EIF2S3	SNRPN	POLRMT	DEAF1	ZBTB20	AFF3	SOX5	MKRN3	RAB18	PIGY	KCNJ6	ASXL3	EXTL3	DPYD	PDX1	CTBP1	PIGV	WAC	IGF2	DVL3	MBD5	FZD2	ELN	ADAM22	NSD2	MAGEL2	HDAC8	MTOR	PHF21A	CDK5	WNT5A	FGFRL1	ATP1A3	CCDC47	TET3	SLC6A8	AFF4	ZEB2	PAK3	SHMT2	RTL1	KAT6A	NKAP	CPLX1	SMC1A	DGCR6	POMT2	NFIX	GRIA3	DIS3L2	HOXB1	ZNF407	MYL11	HSPG2	ECEL1	PIGQ	MED12L	LMBR1	CDC42	GFM2	POLR3A	EEF1A2	DVL1	NARS2	KIAA0753	VPS13B	RPS6KA3	TRIP12	CHRNG	MASP1	DST	GTPBP2	PIGN	MYH3	LETM1	LAMA2	FBXO11	PPP1R15B	IQSEC2	AGO2	TBX1	ZC4H2	GMPPA	DLK1	PACS1	TCF20	PIGF	NALCN	CLTC	COLEC11	EHMT1	FLII	TUBB4A	NCAPG2	RAC1	KIF7	KDM1A	HNRNPK	DPH5	MED12	UBE2A	MYMX	HACE1	PACS2	PUS7	BAP1	CDH11	BRPF1	CHD8	ATN1	OGT	FOXP1	EBF3	KCNH1	KIF1A	AP1S2	PIGG	RAI1	SMARCD1	MED13L	MLXIPL	CCDC88A	RNU4ATAC	BCAS3	TFE3	KCNJ11	ABCC8	ATP6V1B2	HERC2	MEG3	ZMYM2	PIK3R1	KANSL1	NELFA	ZNHIT3	NDN	SLC9A6	DPF2	ROR2	OCA2	PPP1CB	SC5D	IL1RAPL1	STAC3	SLC1A3	NPAP1	RAD21	TBC1D24	PRKAR1B	ESS2	DGCR2	KDM4B	SNORD115-1	CAMTA1	NGLY1	EXT2	STAT3	DHX30	NOVA2	NIPBL	PWRN1	STRADA	COLQ	TWIST2	GPC4	KAT8	DENND5A	GNB2	CACNA1I	TELO2	CHAMP1	COLEC10	H4C5	HMGA2	SNORD116-1	TFAP2B	PWAR1	CACNA1C	MAFB	SETD5	SOX11	POGZ	PPP2R1A	NOG	TCF4	H3-3A	TASP1	INPP5E	DGCR8	GRB10	GK	REV3L	SMC3	HDAC4	SF3B2	ASH1L	DCHS1	KIF15	SETBP1	AKT1	ATRX	PURA	WDR37	PIGT	INTS1	PGAP2	CDK13	PLXND1	NEXMIF	TRMT10A	CCDC174	GCK	ATP1A2	PARS2	POLA1	SLC35A2	RPS23	SON	NOTCH2	LAMB2	LIFR	PRKAR1A	TMEM237	CACNA1A	PDE4D	H4C11	PIGW	LEMD3	PIGA	PLOD3	KCNMA1	MSL3	TBL1XR1	DHX37	PGAP3	SCNM1	NXN	FAT4	PIGO	PPP2R5D	RLIM	UNC80	PIGU	OCRL	AHI1	INS	FAM149B1	KCNK9	SRCAP	PRR12	NTNG2	SIN3A	ZPR1	BRAF	NONO	HRAS	TRAPPC9	ALX4	EBP	ZSWIM6	SIM1	CSNK2B	GBA1	NRAS	ANKLE2	ERCC2	BUB1B	PIGL	CNOT3
HP_ABNORMALITY_OF_UPPER_LIP_VERMILLION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_UPPER_LIP_VERMILLION	PIGN	MECP2	STIL	CTCF	HS2ST1	SASS6	IFT43	DEAF1	HNRNPU	MYL2	GNE	PHC1	PURA	ADGRG6	PIGY	KCNJ6	SMARCB1	FBXO28	SMARCE1	EHMT1	PIGK	FAR1	SPATA5L1	EDEM3	VPS51	MAGEL2	SPECC1L	DPM2	RSPRY1	MED13	DISP1	WDR26	SMARCA4	KIF14	SLC25A46	TAF8	ANKRD11	WAC	EXT1	NALCN	KAT6A	DYRK1A	BMP2	UNC80	SLC26A2	TAF1	DIS3L2	ARID1B	HOXB1	ZNF407	SCN1A	KCNJ2	TRAPPC14	ZBTB18	DSE	AP2M1	MED12L	ANKLE2	HK1	ALG12	CREBBP	NRCAM	POLR3A	SATB2	ASXL2	DVL1	TRPS1	NSUN2	WARS2	PSMD12	YY1	RALA	AGO2	KIF11	STAG2	PPP2R5D	PACS1	MKS1	TCF20	APC	CLTC	FLII	MAN1B1	NCAPG2	ASXL3	KATNB1	TUBGCP2	PAX3	KMT2A	HNRNPK	KDM5C	RTL1	ARID1A	COG1	BAP1	TRIO	ZNF526	CENPJ	CDC42	ATN1	EBF3	RAI1	PIGO	SETD1A	IRF6	GATAD2B	PDE4D	ATP6V1B2	CLP1	MPC1	MINPP1	HDAC8	SUPT16H	FIG4	PRKDC	CDH2	NCAPD3	ZC4H2	MAP1B	SPEN	TRRAP	ACTG1	SMARCD1	DPF2	CIT	ROR2	PPP1CB	IL1RAPL1	SLC1A3	TAF13	PRKAR1B	PCGF2	SLC9A7	EXOSC2	KDM4B	TMEM147	SNORD115-1	SPTBN1	PIGB	MAF	ABCC9	KIF7	NAA20	CHD2	PWRN1	EDA2R	LAS1L	ADNP	GNB2	GALNT2	AP4B1	IGF1R	MEIS2	CHAMP1	CYFIP2	PWAR1	CTNNB1	FOXG1	ARHGEF2	FGFR1	POGZ	SYT1	ZIC2	CNOT2	UBE3B	TASP1	EXOC2	RAPSN	KCNK9	CDK10	WNT5A	CDK6	CDH11	DDB1	TTC5	SIX3	ADAMTSL1	PTRH2	SRCAP	TOE1	ADARB1	B3GLCT	TBCE	ATRX	CLCN3	CDK13	PREPL	MAPK8IP3	MCPH1	CDK5RAP2	TRMT10A	MID1	PRKACB	PDGFRB	ATP1A2	BPTF	AFF4	RPS7	SLC35A2	EP300	ZMIZ1	PBX1	ASPM	MICU1	STRADA	ACTB	PIEZO2	PIGG	FOXH1	PGAP3	PIGT	NAA10	MFSD2A	HUWE1	SMC1A	ZSWIM6	MCTP2	TMEM53	CEP135	NXN	GJA8	METTL5	DCPS	SOX11	ZNF462	TCF3	TLK2	OCRL	MBD5	SMARCA2	AP4E1	NFIA	EDA	PLPBP	NONO	PUF60	ZNHIT3	THOC6	WASHC4	CDK19	MED25	CILK1	CEP63	FBN1	CCNQ	SYNGAP1	KDM3B	SIM1	TRAPPC9	ATIC	VPS35L	EIF5A	PPM1D	TGIF1	RPL10	WDR4	KCNK4	SNRPN	AFF3	QRICH1	MKRN3	HIVEP2	DDX59	SUFU	KCNJ5	TRAPPC10	MEG3	CSF1R	MCM7	PYCR2	TNRC6B	RHOBTB2	AMMECR1	PIGV	GPC4	ADSL	THUMPD1	ATP1A3	MYOD1	H4C9	PAK3	SHMT2	PMM2	NODAL	KDM1A	CLCN6	ARX	SMPD4	TMEM94	GLIS3	CACNA1C	AP3B1	OTUD6B	MAPK1	BCL11B	PIGQ	CHMP1A	EEF1A2	LMBRD1	STEEP1	MAPRE2	NEXMIF	BCL11A	PPP1R21	TRIP12	CRKL	KNL1	PPP1R15B	IQSEC2	RAB11B	SMAD4	CPLX1	DLK1	COL11A1	MED27	MED12	BRAT1	MYMX	PIGW	TGFB3	SMARCC2	PACS2	OPHN1	COPB2	SHH	OGT	IFIH1	KCNH1	RNU4ATAC	PTCH1	PLAA	HERC2	PGAP2	WDR62	RNF135	PQBP1	AGL	DLL1	EPG5	FGF8	OCA2	CSNK2A1	SEC23A	WDR19	SLC2A1	NPAP1	TBC1D24	ZNF292	CDC42BPB	PITX2	AARS1	B4GALT1	BCR	NIPBL	IER3IP1	EDARADD	RYR1	DENND5A	ODC1	H4C5	SNORD116-1	EDAR	SETD5	TAF6	ALDH6A1	SOX4	MYO18B	NOG	NSRP1	GLI2	AP4M1	BRCA1	H3-3A	PPP2R1A	DNMT3A	DCHS1	KIF15	SETBP1	TWIST2	RAD21	SLC25A24	IRX5	DPM1	MEF2C	ARID2	SH3PXD2B	STT3A	GJA5	TBL1XR1	CHST14	TDGF1	DMPK	TMEM237	SMC3	CACNA1A	MESD	KCNMA1	MSL3	USP9X	ANKRD17	CEP152	DHPS	TBCK	FAT4	CDON	PIGU	SSR4	MTOR	SIN3A	GAS1	GAD1	AP4S1	OFD1	NDN	GNAI1	ALG9	SLC6A1	KAT6B	GBA1	SC5D	PIGL
HP_LONG_UPPER_LIP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_UPPER_LIP	DIS3L2	ARX	B3GALT6	TBL1XR1	SLC35C1	AFF2	TRPS1	EXOC6B
HP_MILD_GLOBAL_DEVELOPMENTAL_DELAY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MILD_GLOBAL_DEVELOPMENTAL_DELAY	OCRL	SOX9	GJA1	PLP1	LCA5	TRAIP	CTSK	IARS1	TBX2	AASS	NARS2	RPE65	LRP5	TANGO2	POLRMT	FTCD	TOP3A	KCNJ11	DHTKD1	ATRIP	SOX3	WDR26	GNB2	RNF168	PLK4	MT-TK	ZNF408	ATR	RBBP8	FZD4	PRKAR1A	NSMCE3	TCF12	ZNF462	SIX1	NUP85	LRAT	DOLK	COG1	RRAS2	TSPAN12	CDH2	DBR1	PHKB	MCM4	B4GALT7	SF3B2	ABCC8	PDP1	ACTB	ACAD8	ABCA2	PCNT	ASPA	TPP2	MAP1B	TBX4	ADNP	NONO	AP3B1	SPATA7	CTNNB1	ALDH4A1	CENPE	CDC6	ALB	NFE2L2	CENPJ	EYA1	NDP	CEP152	PEPD
HP_MODERATE_GLOBAL_DEVELOPMENTAL_DELAY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MODERATE_GLOBAL_DEVELOPMENTAL_DELAY	HAL	TMEM70	PHGDH	SOX9	DLK1	PLP1	MADD	CDKL5	SDHD	NCAPD3	TANGO2	SDHAF1	TET2	PGM3	TPP2	SDHA	PSMC3	HSD17B10	MEG3	NF1	TBX4	KDM5B	ADNP	SDHB	RTL1	IRX5	AIFM1
HP_SEVERE_GLOBAL_DEVELOPMENTAL_DELAY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_GLOBAL_DEVELOPMENTAL_DELAY	VPS35L	PIGN	PHGDH	TSEN2	MN1	MECP2	ABCC6	FBXL4	EIF2S3	POLRMT	CDKL5	ACTL6B	UGDH	PEX3	GABRG2	CTNND2	RNASEH2A	MT-ND1	KCNJ6	MEG3	EXTL3	ADAR	DPYD	GNPTAB	ALG1	AP3D1	MT-ND5	ATPAF2	PEX5	DPYSL5	GSX2	VPS51	TRIM8	NKX6-2	TBC1D2B	ACO2	PEX10	ADSL	PHACTR1	CCDC47	WDR62	MPDU1	TAF8	TUBA8	GRM1	DYRK1A	PEX16	LSM11	ARX	STAMBP	ADK	GABRA2	KDM5B	SNX14	DYM	GRIN1	JAG1	DPM1	NIN	FGFR3	GFM2	GLUL	LAMB1	VPS4A	ERCC5	PPP1R21	ECHS1	GPHN	MAPKAPK5	PLCB3	RPS6KA3	GAMT	GABBR2	GTPBP2	VPS11	YY1	TRAPPC12	TSEN54	LHX4	SMC1A	GLI2	PURA	AIMP1	ASXL3	MT-ND6	MT-TT	GEMIN4	DEGS1	MT-ATP6	CHKA	TUBB3	MT-ND4	KCNH1	ALG2	SLC30A9	RALGAPA1	PEX12	UGP2	ASNS	POMK	PEX11B	FIG4	ZNF335	TXN2	PRORP	DAG1	ENPP1	COPB2	RAB3GAP2	VPS50	FTO	MT-ND2	GLYCTK	TANGO2	POMGNT1	VPS53	ERCC2	RTTN	CACNA1I	KARS1	TELO2	MEIS2	H4C5	C18orf32	TRAPPC2L	PROP1	TSEN15	ALG12	SLC33A1	DLK1	EXOC2	MADD	CYB5A	SLC9A6	EMG1	PEX19	INSR	PRIM1	SYT1	ERCC6	KIF15	TSEN34	PEX2	MT-TV	INTS1	MT-TK	NTRK2	TUBB2A	KMT2B	RELN	CYB5R3	OGDHL	PYCR2	SATB2	SEMA5A	PEX6	OTX2	KATNB1	TBL1XR1	PEX13	SLC16A2	STRADA	STXBP1	CASK	PIGG	NTNG1	KCNC2	SLC25A46	WDR26	TTC26	CTNNA2	NDE1	MT-TW	MTRR	PEX26	NAA10	RBL2	DYNC1I2	PEX14	FGF13	ERCC1	MT-TL1	RTL1	MT-ND3	EXOC8	UNC80	PIGU	HESX1	RNF2	RNASEH2C	ZPR1	TBR1	PEX1	LIAS	NEXMIF	DEAF1	MED25	RNASET2	PIGS	PSMC3	GRM7	POU1F1	ACOX1	CLTCL1	FOXA2	SLC25A19	ADNP	COG8	DALRD3	TBCK	SEPSECS	BUB1B	ARNT2	NDUFA8
HP_ABNORMALITY_OF_OCULAR_ABDUCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_OCULAR_ABDUCTION	ROBO3	MYMX	GRM1	MAFB	SALL4	MYMK
HP_GENERALIZED_ABNORMALITY_OF_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_ABNORMALITY_OF_SKIN	MT-ND4	SDHB	ITGA2B	ODC1	VPS37D	CTCF	FOXE3	BRCA1	USP53	SFTPB	ZNF699	ITGA2	RNASEH2C	KCNJ6	GPI	NDUFB11	PTPN11	DNASE1	SLC51A	FZD4	TP53	BRCC3	PEX14	JAK2	SPOP	SEC23B	RNF113A	UVSSA	RASGRP1	GP1BB	MAT2A	SCN2A	ZIC3	KRT1	TGFBR2	MAX	SPTB	LARP7	RINT1	NFIX	MYH11	HNF1B	FCGR3B	STIM1	NLRP3	ARX	RNASEH2B	POLR3A	LZTR1	TPO	ERCC5	LBR	BMPR2	NOTCH1	PRTN3	PRRT2	USP8	CSTA	ERCC8	HPS1	PGM3	UGT1A1	NLRP12	FKBP6	VPS33B	COL7A1	IL12RB1	IFT43	NAGA	RAC2	NPRL2	KCNN4	PIK3CA	NTRK1	ACP5	HBB	ATP6V1A	MITF	RECQL4	SLC4A1	GNA14	PIK3R1	AEBP1	USP48	CAVIN1	ATRX	SNAI2	SCN1B	TFR2	SLC1A3	NR1H4	MT-ND5	IKBKG	TNFSF11	PKLR	ABCC9	HPS3	VHL	GABRD	STXBP1	PTDSS1	CFHR1	GJB3	PMVK	IGF1R	DDB2	PIGT	FUCA1	KRAS	NBEAL2	PKHD1	ERCC2	SAMD9	RHCE	SMAD4	SLC25A1	MYOF	LRP5	INSR	TREX1	SLC6A19	ITGB4	TMC8	KIF1B	SP110	SDHC	SERPINF2	HR	BMP2	ALDOB	PRKCD	SPINK5	ETFDH	WRN	PRSS1	EIF4H	WAS	PTEN	CD28	CPOX	SLCO1B1	CAV1	SCN10A	HBG2	MT-TF	LORICRIN	PIGO	FAS	SDHD	COL1A2	ANK1	HLA-DRB1	MRPS2	COL17A1	ADGRE2	CTSB	MASP1	XPC	DUOX2	APOE	NUMA1	ACD	STUB1	PEPD	SOX10	FLT4	PTF1A	GALT	NGF	FDFT1	ETHE1	EIF2AK3	FCGR2B	CBS	PLXND1	HBA1	EPB41	GATA2	MKRN3	TNXB	STN1	EPHB4	ZMPSTE24	F13B	PROC	MVK	METTL27	ITGB2	TSHR	AGRN	ADAMTS13	NDUFS4	GLA	CLEC7A	FDPS	GJB2	H4C3	EDA	IL36RN	UROS	ERCC4	PEX1	SLC5A7	PMM2	LEMD2	PRKAG2	PRKAR1A	ACVRL1	SOX18	GPR35	SMAD3	TRAIP	HLA-B	NCF1	SLC2A1	PPP1R15B	ICOS	CDKN2A	MT-CYB	SCARB2	PPARG	NKX2-6	EDNRB	PTPN22	MT-CO3	KRIT1	LMAN1	PEX13	RABL3	UROD	NECTIN1	HDAC8	FBN1	CYP7B1	MED12	RASA1	IFIH1	ERCC6	MLXIPL	RARA	IL17F	KRT5	ETV6	HERC2	PHGDH	CR2	FGFR1	ALG6	ALDH2	CENPE	ENG	GBA1	NDP	RORB	ERCC3	ADAM17	RNASEH2A	LAMB3	VPS53	NABP1	PEX11B	SLC18A3	MYO5A	HIRA	HOXA11	MT-CO1	DNAJC30	EDAR	RHAG	CHRNB1	NUP85	CYB5A	NLRC4	ARVCF	ALAS2	PALLD	SCN1A	KRT10	CARS1	TSC1	CTC1	PEX2	FLNA	TYMS	BANF1	PARS2	MAP2K1	GALK1	GNPTAB	FBLN5	GRIK2	GUCY1A1	NFKB2	LIFR	MMP1	NSD1	MMEL1	RNF168	ABCD3	UBE4B	AQP5	FERMT1	PIGW	DEF6	ATP6V0A2	CBL	ADA2	SLC25A24	SAMHD1	ARPC1B	NECTIN4	DPAGT1	KDSR	COL3A1	ABCB4	GDF2	ATP8B1	PDE11A	CHST14	ELP1	GNAS	USP18	TRMU	PLEC	CALR	SLC51B	TBL1XR1	CDIN1	COL5A1	RPA1	GTF2H5	ATP2C1	IRF2BP2	WIPF1	SLCO1B3	ABCC2	MT-ND2	PARN	CASZ1	SLFN14	IPO8	RAB27A	F8	PLOD1	KCNQ2	TERC	AKR1D1	STAT5B	MT-TL1	PSAT1	FCGR2C	ALOX12B	RREB1	MMP21	SLURP1	EDARADD	MYH9	DPM1	ABCA3	CHRND	DDR2	MTX2	DST	IYD	GJA1	CYBC1	TRAF3IP2	TBX1	PRDM16	TGFB2	STAT3	IKZF1	CPA1	SERPINE1	SKIC3	BLOC1S3	ETFB	RAF1	NPM1	TET2	EXPH5	SLC2A10	CDH23	VWF	MT-TS2	SLC37A4	BCOR	XRCC4	NEU1	EIF2AK4	MT-TQ	LMNA	ENPP1	RET	PAX3	POU2AF1	SYNGAP1	ATL3	F5	ACTA2	SPTBN1	CFHR3	SLC16A2	KMT2E	FGG	PWRN1	PRF1	BRCA2	LYST	MT-ND6	CCR6	WRAP53	PDE8B	ATR	PWAR1	HNF4A	SRSF2	ATP7A	SPRED2	POLE	SERPING1	SCN9A	MEFV	KRT85	CHAT	ARHGAP31	CPN1	PEX5	TCF4	CLCN7	KRT14	NFIA	MMP23B	PPOX	BLM	ATP1A2	CYB5R3	SCN8A	ELN	AKT1	ATP6AP1	IL18BP	PCNA	ALDH3A2	CHRNE	SNX10	MAGEL2	PKP1	B3GALT6	NAA10	CLDN1	AP1S1	EDN3	BSCL2	MFAP5	HBA2	MPV17	ATP7B	BRAF	RBBP8	GYPC	SMARCA2	ALDH18A1	SMARCAD1	CYLD	ATP6V1B2	COG8	KCNQ3	ANTXR1	LIG1	PCK1	POLG2	RHD	F13A1	FANCA	COL5A2	COG5	FOS	SLC44A1	MYO5B	SPEN	SKI	TRHR	COX7B	FANCE	ATP1A3	NHP2	SPINK1	OCLN	SH2B3	PDGFB	NOP10	MBTPS2	HFE	TBX20	TINF2	CLTRN	RTEL1	DSP	KITLG	P2RY12	MMACHC	ANGPT1	NEXMIF	TLL1	CFTR	FKBP14	CHRNA1	PLCG2	DHCR7	PSMB8	DSG4	MPLKIP	SYK	GLMN	TGM5	LUZP1	TALDO1	ARPC4	PRKACG	ABL1	SCN11A	ATP11C	NF1	SPTA1	GTF2I	DOK7	GHR	PROP1	PROS1	PIEZO1	TP63	MYO9A	GP1BA	CENPJ	GTPBP3	PERP	ALMS1	MAOA	ITGB3	MDM2	FYB1	RERE	HTRA2	ATP6V1E1	IER3IP1	MYLK	LIG4	IL7	TBX19	RIN2	LMX1B	XPA	B4GALT7	WNT10A	KRT18	TARS1	ALDOA	CLPX	IL2RG	NDUFS2	CIB1	GATA1	MTAP	GABRG2	EGFR	TYR	FECH	TERT	ARL6IP6	GJB6	RAB3GAP1	TGFB3	MEN1	CASK	COL1A1	CSTB	GLRX5	KRT83	CYP27A1	LAMC2	TNFRSF13C	NPC1	COG7	HSD3B7	GTF2IRD2	LIMK1	PIGL	RAPSN	MS4A1	TMEM270	LPL	SMPD1	RUNX1	KANSL1	SEMA4D	EMILIN1	FUZ	TNFSF12	SLC35A1	SFTPC	TGFB1	PSMC3	GORAB	MT-ND4L	SLC6A1	SERPINA1	XPNPEP2	AGPAT2	NBAS	FOXP3	ANKRD26	POU1F1	YARS1	C1R	PDSS1	LTBP4	ETFA	PIGY	SLC25A20	DNMT3A	SETD2	ABCB11	NPC2	ASXL1	CCDC115	HPS6	EPM2A	PLG	C1S	ALOXE3	PUS3	DOCK6	SEPTIN9	SLC39A4	PTPN3	PEX16	PCNT	NFKB1	FANCC	GP9	SLC10A1	DSE	AP2M1	TWIST2	MUSK	PRDM5	SLC25A13	VIPAS39	ABCC6	TGFBR1	SLC26A4	ACTC1	GFI1B	HEY2	LHX3	POFUT1	SLC39A13	IL12A	DCDC2	SUPT16H	USB1	MPL	CD19	SDHA	GATA4	FTO	RAD21	GNA11	CASP10	NUP214	GATA6	SNORD115-1	ELOVL4	CHD2	CCM2	DHFR	FLI1	RBPJ	PFKM	SLC25A11	EPAS1	PYCR1	LSM11	TGM1	TRMT10A	DSTYK	BAZ1B	F2	DGUOK	SEC24C	XPR1	PRKACA	ELMO2	DAXX	GLB1	IL17RA	SMC1A	GJB4	GJA8	FERMT3	NPRL3	MYD88	IRF5	SYT2	HK1	AIP	NCF4	PLAU	TMEM260	DNASE1L3	BRD4	UNC13D	NKX2-5	TSHB	LMNB2	CDH3	PRSS2	RBM28	KIT	HYOU1	SLC17A9	SREBF1	STAG1	HLA-DQB1	LIPA	MT-TH	POLD1	EPB42	BLOC1S5	HCCS	G6PC3	TNFRSF1B	POLH	TFAM	IFNG	MT-ND1	JAG1	ACADVL	MAP2K2	HS3ST6	DLL4	FH	STX11	PEX6	BCL7B	SETX	MVD	PEX19	TOP3A	EOGT	DEPDC5	FGA	FASLG	PORCN	CD46	NHLRC1	SMAD2	SOS1	PSENEN	DKC1	DDX11	RAB3GAP2	GSN	RYR1	TNFRSF13B	HEATR3	TULP3	NSUN2	PALB2	ANTXR2	ZNF469	JAM2	BMPR1A	NLRP1	SLC29A3	HSD17B10	G6PD	FCGR2A	PRKCZ	PEX12	AMACR	PLD1	KRT74	AKT3	FOCAD	HELLPAR	NCF2	NR3C1	BUD23	PEX10	SNAP25	PGAP2	CD109	HPS5	GCLC	GJA5	HESX1	PIGA	RNF213	CACNA1A	TTC26	SBDS	PLK4	ORAI1	ERCC1	ADAR	WDR35	CD81	LAMA3	JMJD1C	TCIRG1	TNFRSF1A	RNU4ATAC	ANAPC1	PEX26	BAAT	IL17RC	RPS6KA3	PAX8	ATL1	IARS2	IFT122	POLA1	KRT2	KNG1	FIP1L1	DIAPH1	CITED2	RIT1	LRP4	CFH	FGFR2	KIAA0319L	DZIP1L	CASR	HSPG2	C2	SPIB	GALE	HMGCL	CCN2	CREB3L1	COX4I2	EPHB2	CYBB	CTNNB1	LOX	TXNDC15	FRG1	ZFYVE19	HLA-DPB1	AGA	DUOXA2	GTF2E2	APC2	TRPM4	ADAMTS2	CTLA4	PDPN	TBXA2R	SLC27A4	CLIP2	EVC2	PML	TFAP2A	C4A	POGLUT1	TMEM127	CARMIL2	GNB2	MDH2	SLC20A2	TG	PDCD10	F7	KYNU	KCNK9	TSPAN12	CTRC	SPTLC1	UNC45A	COMT	PDGFRB	LCP2	KIF23	GIMAP5	LRP1	SLC30A10	ATM	ATRIP	COL13A1	GGCX	GNAQ	PRKG1	ARMC5	HLA-DPA1	FGF23	RHOH	LIPN	ALG8	GABRA1	SLC5A6	DLST	CEP152	DCLRE1B	ITGA3	F12	SPTLC2	MYORG	FANCD2	ZNF408	RNU7-1	ATP6AP2	PIGV	GALM	HOXC13	ARID1B	SIK3	PEX3	HPS4	GTF2IRD1	CYBA	STXBP2	ARL13B	AK9	MAPK1	SLC34A2	ALPK1	GLUL	TMC6	NFKBIA	ADAMTS19	CEP104	VAMP1	COL12A1	STING1	PCDH19	ABCB6	PRPS1	CDKN1B	RFC2	DDX6	TBL2	TRPV3	CDH11	PLIN1	CFI	TNPO3	CTSA	KCNAB2	FGB	DTNBP1	PSMG2	TNFSF15	GH1	RBM10	EVC	STX1A	MRAS	NOD2	NPAP1	JUP	NIPBL	LHX4	USF3	ZBTB16	H4C5	SLC2A2	SNORD116-1	COG4	MANBA	CDAN1	ADAMTSL2	TPI1	TOR1A	SMC3	KIF12	SCN4A	NBN	MCFD2	GP6	SLC25A3	SF3B4	SLC5A5	AGXT	PRICKLE1	SULT2B1	MST1	MYH6	MT-CO2	PLOD3	TSC2	PGAP3	HPGD	MT-ATP6	FGFR3	NSDHL	F10	KLLN	MT-TW	NAXD	UFD1	SDHAF2	PKD2
HP_LOCALIZED_SKIN_LESION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOCALIZED_SKIN_LESION	KITLG	MGP	SEMA3E	ODC1	VPS37D	TBX1	RGR	CTCF	CUL4B	SDHD	IDH3A	PRPF4	FUZ	GLS	LMNA	GPC4	COL7A1	C1R	FBN1	UBA1	ZNF699	TERT	NDUFB11	PTPN11	SALL4	CAMK2A	POMP	PRKAR1A	LEMD3	CDKN1B	MSH2	FZD2	SLC7A14	OCA2	CTNND1	SMAD2	SPOP	PCARE	SEC23B	NSD2	EDEM3	SIX1	CYP26C1	STEAP3	SPTLC1	ZMPSTE24	COX7B	GP1BB	GNAS	SLC26A2	CDK4	PUS3	KRT1	ITGA6	MBTPS2	TGFBR2	LTBP2	B4GALT7	TNFRSF11A	IARS2	DOCK6	IDH1	FANCC	TINF2	NFIX	KCNJ2	PALB2	HAVCR2	DSE	COL1A2	HK1	GNAQ	MITF	KRAS	TWIST2	CREBBP	POLR3A	LZTR1	BRCA2	JAG1	NADSYN1	ARL3	DVL1	NOTCH1	ANTXR2	TP63	PRTN3	TRIP13	CHN1	PSMD12	USP8	CSTA	RP2	ABCC6	GALC	ERGIC1	COL1A1	GDF1	STAG2	HPS1	APC	NKX2-5	LYST	EDARADD	IGF1	FKBP6	CRB1	NCAPG2	KMT2A	CTSC	FGFR3	TTPA	NECTIN1	COL12A1	BAP1	COL2A1	OTULIN	POFUT1	MAD2L2	PIK3CA	NEK9	NTRK1	KIF1B	SMARCAL1	SLC37A4	SLC39A13	ACP5	HBB	ATP2A2	IRF6	GJA5	RECQL4	HLA-DRB1	GNA14	PIK3R1	BRIP1	AEBP1	MPL	USP48	USB1	DHCR24	SPEN	ERCC3	ARF1	GATA4	MAFB	IL12A-AS1	EYA1	SNAI2	NR2E3	PTEN	SATB2	MAP2K2	TEK	PPP1CB	SPRED1	FGFR1	GATA6	KDM5C	GNA11	SOX10	DUT	PCGF2	LETM1	NGF	TULP1	ABCC9	KRT17	ELOVL4	DHX30	SNRNP200	KDM6A	GGCX	GABRD	CLPB	PTDSS1	GJB3	PMVK	KCTD1	NBN	IL12B	POLR1D	CDKN2A	HNRNPK	DDB2	MLX	GSC	TCOF1	COL3A1	PAFAH1B1	SEMA4A	KMT2D	TAPBP	SOX18	SALL1	PDE6A	ERCC2	TCF4	PLEC	UBE3B	HIC1	CBL	EFTUD2	GRB10	NRL	WNT5A	RBPJ	ALX3	CDH11	FLT4	ITGB4	USH2A	FANCI	KRT14	PYCR1	AIRE	TMC8	ANTXR1	COL5A1	PLXND1	TCIRG1	CCT5	DSTYK	ERCC8	ASXL1	BAZ1B	PARN	SETBP1	CCDC22	DVL3	RIPK4	BEST1	LMF1	NRAS	SEC24C	ALX4	WASF1	NOTCH2	WDR1	IMPDH1	PRPF8	PGM3	ABCG8	VANGL1	EIF4H	SHANK3	EDN1	APOA1	CD28	CPOX	IL17RA	MCTP2	ADA2	ERCC6	CAV1	LORICRIN	RHOA	KDR	NXN	FERMT3	KLRC4	ZIC3	AHI1	BRAF	ZNF462	KIZ	FAS	ANK1	IGF2	PRR12	BMS1	COL17A1	IRF5	MASP1	LAMB3	XPC	ZFPM2	TOPORS	LDLRAP1	SOX9	HRAS	APOE	PDE6B	ACD	RASA1	MED25	PEPD	IFT140	VANGL2	APOA2	COL6A1	MAK	GJB2	AIP	RAF1	IDH2	ERCC5	BUB1	POMGNT1	NCF4	PHIP	ATP7A	TSC2	IKBKG	TMEM260	CERKL	TRPM4	TSC1	SLC39A4	FAM161A	ZNRF3	IL10	ACVR1	NF1	GUCA1B	TBXT	EDNRA	NAA10	HMGA2	POLR1C	EPHB4	IL6	SIX5	MVK	FGFR2	RBM28	KIT	OCRL	CTBP1	RRAS2	METTL27	ITGB2	XYLT1	SPTA1	HLA-DQB1	STAT4	DCLRE1C	GLA	CLEC7A	POLD1	FGFRL1	EPB42	IPO8	STK11	BLOC1S5	HCCS	H4C3	TP53	EDA	PDGFB	BUB1B	TNFRSF1B	SHOC2	POLH	MRAS	PAX1	UROS	ERCC4	XYLT2	CPLX1	IFNG	PRPF3	RBP3	FANCL	SPTLC2	MSX2	PDE6G	OTUD6B	SLC4A1	RETREG1	DPAGT1	ERAP1	DLL4	GRHL3	BCL7B	SLC17A9	SMAD3	IFT172	ABCA4	KLHL24	HLA-B	NCF1	CTNNB1	HOXA13	TOP3A	MYSM1	PTCH2	RP9	NLRP1	IFNGR1	RERE	EOGT	CDH1	OFD1	PPARG	EDNRB	TMCO1	UBE2A	PORCN	TGFB3	CHUK	PROM1	EPHX2	HDAC8	PSENEN	MED12	NAGA	F12	DKC1	SUFU	PIGG	IL17F	KRT5	DEAF1	PROC	PIGN	KIF1A	CDKN2C	SUZ12	GSN	ATP6V1B2	XRCC2	ASAH1	HEATR3	GBA1	ALPL	SLC45A2	ROR2	C1S	KRT6B	NSUN2	NAXE	PCNT	CNGA1	ST3GAL5	SNRPN	ZNF469	GNAI3	PRMT7	HIRA	CAPN15	PTPN22	INSR	PRKCZ	C4A	CAMK2G	LDLR	EGFR	PRCD	SKIC2	IL23R	WASHC5	ARVCF	FLNA	FOCAD	MEFV	PUF60	NSMCE2	RPL10	ORC1	ALX1	NCF2	SLC35C1	NR3C1	FANCF	SETD5	BBS1	KRT10	DCHS1	BUD23	TYRP1	GJB6	CTC1	ARL2BP	SMO	SRP54	TYMS	DOCK8	NOD2	MC1R	ACTB	MAP2K1	CDKN1C	TNXB	SAG	SH3PXD2B	SEMA5A	NOTCH3	CWC27	TAP1	CHST14	LIFR	SUGCT	LAMC2	MMP1	FANCM	CARD14	LPIN2	UBE4B	AQP5	FERMT1	SCYL2	PDE11A	HGSNAT	LAMA3	DHPS	IDS	AKT1	SLC25A24	GPC3	NLRP3	KDSR	LPAR6	LIPH	CDH3	FMR1	USP9X	JMJD1C	TNFRSF1A	FANCE	FANCG	POT1	NF2	ANAPC1	DDIT3	FGF3	RPGR	IL17RC	BTNL2	AHR	PCSK9	CYP1B1	HEXB	WBP11	ATL1	MAP3K7	UBA2	ATP2C1	BCOR	FSCN2	WIPF1	CHRNG	FANCB	KRT2	UBE2T	HNRNPU	TMTC3	CASZ1	TLR4	PRPF31	EXTL3	PLOD1	MAX	KIAA0319L	ENPP1	SPECC1L	ADAR	HSPG2	RET	EYS	MYOC	ARFGEF2	TERF2IP	LIG4	MMP2	CCN2	RREB1	RRAS	BBS2	REEP6	RTEL1	TAF1	RIT1	CYLD	CYBB	SLC29A3	MTX2	DDR2	MLXIPL	ASXL2	SLURP1	GHR	EDAR	IMPG1	B9D2	MDM2	HSPA9	GJA1	CYBC1	CLRN1	TRAF3IP2	PTCH1	PRDM16	TGFB2	HLA-DPB1	COL6A2	IKZF1	AGBL5	MAN1B1	KIF11	RAD51C	CYP27A1	PAX3	WAS	KAT6A	SKIC3	ZFHX4	PRPH2	RPE65	PDPN	CDC42	WRN	NPM1	PTH1R	FANCA	MMP14	TTC8	APOB	SLC2A10	CDH23	CLIP2	GATA5	KANSL1	DHDDS	RFWD3	EIF2AK4	MID1	H1-4	SLC6A19	VHL	SVBP	ERF	ATL3	BUB3	GBE1	EBP	SPATA7	SPTBN1	TFAP2A	SDHB	KIF7	UROD	POGLUT1	CHD7	CARMIL2	GNB2	CCR6	ARHGEF18	ADAMTS2	WRAP53	PDE8B	COLEC10	FKBP10	BRCA1	TASP1	BCL6	KCNK9	TYR	CDK10	PIGA	ARHGAP31	SCARF2	REV3L	MAP1B	AAGAB	CIB1	LBR	ROM1	CCL2	PSAP	B3GLCT	LIPC	CA4	CDK13	MMP23B	ZNF513	PPOX	RP1L1	RLBP1	BLM	COMT	PDGFRB	NCSTN	RMRP	ELN	ANKRD11	TNFRSF11B	POLA1	EP300	LRP1	LPL	ABCG5	ATRX	ATM	ABCB6	KLHL7	STAT3	CHRNA7	FLNB	B3GALT6	FLCN	EDN3	ERCC1	COL25A1	SET	G6PC1	GPNMB	MPV17	ERMARD	CDKN1A	SMARCA2	EZH2	MEN1	MERTK	ARMC5	BRF1	HLA-DPA1	CRX	NONO	SMARCAD1	MYH3	P4HA2	SASH1	TBX4	KCNQ1OT1	SOS1	MPDU1	DACT1	SDHC	TERC	PLP1	RP1	TP53RK	H19	NFKB1	THPO	AFF3	COL5A2	ABCA1	CTNND2	FANCD2	PRPF6	TGFBR1	SCAPER	TUB	ECM1	DSC3	TREX1	CLCN7	RDH12	SKI	MLH1	ALDH18A1	IMPG2	ARID1B	MTOR	GFI1	NKX2-6	SPTB	NHP2	TAP2	GTF2IRD1	H4C9	NOP10	CYBA	APOC2	CEP57	COL6A3	CLTRN	CDKN2B	MAPK1	CTLA4	CITED2	SBF2	KIAA1549	TMC6	MAPRE2	VPS13B	FKBP14	NEK2	DHCR7	PSMB8	EXT2	SYK	GLMN	SLX4	LUZP1	UBR1	DYRK1A	TXNL4A	EED	CD96	RFC2	ABL1	RBCK1	NPHP3	TBL2	TRIM37	TRPV3	GTF2I	CDHR1	KCNAB2	CFTR	PROS1	DSP	PRKD1	WNT10A	NELFA	KDM6B	ARL6	KCNQ1	STX1A	AUTS2	TGM5	ELANE	B2M	LRAT	DNAJC30	BCL2	ESCO2	IFT88	PERP	NEDD4L	CNGB1	SMG9	USF3	BTK	PRKCD	RAB23	PLAG1	H4C5	IL7	AK2	KRT6A	IL12A	XPA	MGMT	RBM8A	SOS2	GJB4	CFAP418	MAN2C1	ADAMTSL2	SPRED2	FN1	EIF2AK3	SYT1	SF3B2	PSTPIP1	GATA1	MTAP	KIF15	POLR1B	TRAF6	MSX1	KRT16	APOA5	SF3B4	RASA2	KDF1	ZNF408	ZSWIM6	IRX5	ARL6IP6	PPP1R17	LDHA	WNK1	KRT83	PRKACA	CLDN1	CCR1	SMC3	PDE4D	PMS2	GTF2IRD2	LIMK1	MSL3	RBBP8	RHO	COL14A1	PIGL	MED13L	CRIPT	PLCB4	DLG4	FAT4	TMEM127	IDH3B	DHX38	TMEM270	SMPD1	YWHAE	COPB1	WLS	SCN9A	FUS	NSDHL	MSH6	LRP5	UBAC2	PIGS	DIS3L2	GORAB	ALG9	KLLN	RAD51	UFD1
HP_REGIONAL_ABNORMALITY_OF_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REGIONAL_ABNORMALITY_OF_SKIN	KRT14	KRT1	EXTL3	TSEN2	TNNC1	CHRNG	VPS37D	IFT122	GDF5	HSPG2	KRT2	CTCF	BHLHA9	ABCC9	ADAM17	SDHD	IFT43	NHP2	TGM1	RIT1	C1R	LTBP4	DES	FLNA	EP300	DSG1	ALOX12B	FHL2	BMP4	RNU4ATAC	TERT	FBXO28	KRAS	DPYD	EHMT1	FGFR2	PIGL	DSP	PEX5	TSC2	MEGF8	TCF12	SEC23B	VPS51	COL7A1	ACTN2	TRIM8	ARL3	DHCR7	PEX10	AAAS	STS	TCF4	ATP6V0A2	ALOXE3	TWIST2	CD4	GJB6	SMARCA2	NOP10	PTPN11	TBL1XR1	ITGA6	ANKRD11	RECQL4	EXT1	PERP	B4GALT7	MED12	PARN	SLC39A4	RRAS	SLURP1	RBM10	SMC1A	PTPRF	ANKRD1	KRT5	TYMS	ZNF407	MUSK	DSE	TUBA1A	MED12L	CHUK	CREBBP	FERMT1	LZTR1	MLXIPL	H3-3B	ASXL2	MTX2	DHODH	LBR	FGF9	TRPS1	PIGN	GLE1	PIEZO2	RUSC2	SCN5A	CSTA	GJA1	KRT16	YY1	NALCN	TMPO	ERGIC1	NECTIN1	PTCH1	TSEN54	RIN2	VPS33B	APC	IGF1	FKBP6	ASXL3	KATNB1	MYPN	HRAS	XPC	CTC1	GJB2	RETREG1	CTSC	TRPM4	RTL1	KRT9	PEX12	TRIO	POFUT1	PIK3CA	ATN1	CHD7	FOXP1	SLC39A13	NPM1	MMP14	MCOLN1	ATR	AP1B1	CTSB	WAC	ATP2A2	IRF6	POU1F1	GRIN1	CLIP2	FIG4	SRD5A3	KANSL1	ZC4H2	MAP1B	USB1	GPC6	BAG3	GATAD1	TPM1	ROR2	PEX16	PTEN	CERS3	HCCS	ABCA12	RAD21	RHBDF2	LETM1	CPLX1	KDM4B	TMEM147	CSGALNACT1	SPTBN1	NGLY1	KRT17	SDHB	COL17A1	DHX30	KDM6A	JUP	NAA20	STXBP1	POGLUT1	NRAS	FKTN	GJB3	GNB2	NBAS	RIPK4	TTN	UBR7	WRAP53	TNNI3	NAA10	SERPINB7	PRDM16	HNRNPK	DDB2	KMT2D	ATP6V1B2	NSD2	SOX18	PNPLA6	SPRED2	MAP2K2	BAG5	ERCC2	PLEC	PNPLA1	UBE3B	PACS1	TASP1	KCNK9	CDK10	TNNT2	TNNT3	SDR9C7	SALL4	TGDS	RB1	LTBP1	CHST3	TCAP	AAGAB	CIB1	CCDC32	ADAMTSL1	TSEN34	CRYAB	SDHA	TOE1	B3GLCT	WDR37	VPS13B	BLM	VAC14	ASXL1	BAZ1B	ELN	MBTPS2	SASH1	DOK7	RPS23	PEX6	TPM2	IFT57	STAT3	AQP5	SPECC1L	EIF4H	PKP1	COX7B	MYH3	XYLT1	CKAP2L	PPCS	PEX14	MAP3K7	MCTP2	COL25A1	SET	GJB4	LORICRIN	NXN	GJA8	LAMA4	COG6	ENPP1	CSRP3	NFKB2	BRAF	ZNF462	EZH2	PRR12	BRF1	AUTS2	PEX1	PSEN1	SMARCAD1	KANK2	RBM20	KCNN3	SMAD2	ITGB4	CDK19	GPR101	CILK1	PEPD	TBX4	SOS1	KDSR	ERCC5	TRPV3	SDHC	PPP3CA	TERC	BRD4	CD28	ERCC6	ITCH	ACTC1	RPL10	GLYCTK	CAP2	POLRMT	CTLA4	AFF3	PEX3	MYOD1	RSPO1	KRT6C	FGD1	MEG3	GPKOW	CBL	SLCO2A1	IGF2	CTBP1	RRAS2	METTL27	TAF1A	TNFRSF1B	STAG1	DPH1	CLCN7	HDAC8	ARID1B	CEBPE	THOC2	HPGD	FGFRL1	AIP	TAT	SMOC1	NDE1	FLG	GTF2IRD1	H4C9	G6PC3	PAK3	SHOC2	MRAS	PAX1	CEP57	SMPD4	TP63	TINF2	IFNG	CAST	FGFR3	RTEL1	ERCC3	PIGQ	CHRND	PLOD1	BCL7B	GPR35	KLHL24	NDUFB11	KRT10	NCF1	HOXA13	MYH6	STING1	NUP88	TWIST1	PTCH2	ALPK3	BCOR	LMX1B	RAB11B	PLN	DLX4	UBR1	FKBP10	CD96	DLK1	DMD	RFC2	KAT6B	TBL2	GATA1	PORCN	TRIM37	CYP4F22	GTF2I	MYBPC3	PSENEN	KRT83	DKC1	SUFU	SERPINA12	CFTR	SLC25A12	CCBE1	DOCK6	PLAA	DDX11	DEAF1	PRKD1	ZMYM2	RAB3GAP2	WNT10A	PEX11B	KIF1A	PHGDH	TFAP2A	CEP55	PEX2	GSN	TXNRD2	STX1A	TGM5	MYH7	KRT6B	DNAJC30	POMP	ZNF292	SETBP1	CDC42BPB	NIPBL	LAMB3	ZNF469	USF3	NR2F1	NLRP1	BMPR1B	SGCD	KPTN	PPP2CA	VPS33A	TELO2	H4C5	DSG2	KRT6A	TSC1	TSEN15	DOLK	TAF6	ALDH6A1	KCNH1	XPA	NOG	SOS2	ACVRL1	H3-3A	IVNS1ABP	PUF60	PEX19	PDHA1	NIPAL4	LMNA	SMC3	KCNJ8	HDAC4	LRP4	NEXN	BUD23	NFIX	NUP107	AKT1	PITX1	MMP2	ESCO2	SNAP29	RASA2	NEXMIF	SLC25A24	NUP188	HNRNPH2	IRX5	RAF1	TNNI2	TAFAZZIN	MEF2C	LONP1	RAB3GAP1	PKDCC	TRAPPC11	PLOD2	LDHA	CDSN	PSEN2	WNK1	COX14	ERCC4	MST1	GJA5	PEX13	EMC1	LIFR	CYP27A1	LAMC2	VCL	CARD14	DPH2	DSC2	EYA1	SCYL2	PEX26	PLOD3	GTF2IRD2	LIMK1	LAMA3	MSL3	COL14A1	PPP2R3C	LEMD3	SLC18A3	NECTIN4	DPAGT1	TMEM270	SEMA4D	CHRNA1	HAND2	MTOR	SCN9A	NSDHL	OTUD5	LDB3	MAP2K1	RAPSN	MED25	OFD1	PIGS	EFNB1	DIS3L2	ANAPC1	CHST14	KLLN	GMPPA	ADNP	SMS	RPS6KA3	SEPSECS
HP_GENERALIZED_HYPOPIGMENTATION_OF_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_HYPOPIGMENTATION_OF_HAIR	GNPTAB	TYR	RAB27A	MOGS	MC1R	MLPH	DSTYK	MYO5A	KANSL1	LYST	PRKAR1A	WRAP53	TERT	UBR1	KITLG	PDE4D	PAX3	IFT140	USB1	CTC1	DKC1	OCA2	LPAR6	PADI3	UBE3A	NPM1	NHP2	BLOC1S5	NOP10	PARN	TAFAZZIN	ACD	ABCA2	TYRP1	RMRP	RTEL1	TINF2	PIGN	SNRPN	TP63	AP3B1	TYMS	TGM3	SLC45A2	SLC17A5	TERC
HP_DRY_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DRY_HAIR	LPAR6	GNPTAB	SVBP	KRT74	ERCC8	ARID1B	SMARCA2	RPL21	ASL	OFD1	FOCAD	ERCC6	PADI3	KRT17	BCS1L	PQBP1	GJA1	WNT10A
HP_ACQUIRED_ABNORMAL_HAIR_PATTERN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACQUIRED_ABNORMAL_HAIR_PATTERN	KDM5C	LAMB3	NR3C1	WNT4	PADI3	NEXMIF	HR	ALMS1	DSG4	IKBKG	EBP	GJA5	IL2RA	CNBP	CHD2	ECM1	ITGB4	DMPK	KRT81	ZMPSTE24	PQBP1	TP63	COL17A1	APC	SYNGAP1	PORCN	SLC6A1	SCN1A	ABCD1	ANTXR1	HRAS	KRT86	BLM	GJA8	LMNA	NECTIN4	AP2M1	TGM3	SLC2A1	KRT83
HP_CONGENITAL_ABNORMAL_HAIR_PATTERN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_ABNORMAL_HAIR_PATTERN	BRD4	LRP2	SH2B1	CHRNG	POLA1	TMCO1	CLCN3	TSC1	HS2ST1	FGFR2	SHOC2	COG5	MKRN3	FOS	GNE	ZNF699	ZIC1	MEOX1	POLR1C	RAB18	RPS26	NANS	FGD1	SMARCB1	WASHC5	PTPN11	KRAS	CBL	SMARCE1	SETD2	SALL4	PIGK	RPS24	CTBP1	CAMK2A	GATA1	RRAS2	CDH1	HYOU1	IFT140	MBD5	PGAP1	SPATA5L1	MEGF8	SPOP	SATB1	TCF12	NSD2	EDEM3	VPS51	SPECC1L	HDAC8	WNT4	RPS27	CDK5	FGFRL1	ADA2	TWIST2	SMARCA4	EFNB1	KCNN3	PHF8	TBL1XR1	LIG4	RPS28	SPRED1	XYLT2	YY1	KREMEN1	MED12	PEX19	KDM1A	RRAS	MRAS	SMARCA2	SMPD4	CPLX1	STAMBP	GDF6	SMC1A	RPL15	RIT1	FGFR3	ARID1B	VPS33A	RPL11	HSPG2	MAP2K2	MAPK1	ACTG1	FLNA	RPS29	PPP1CB	CREBBP	LRPPRC	TECPR2	LZTR1	MAPRE2	RPL27	VPS13B	RPL35A	CHN1	LETM1	AIFM1	TWIST1	PPP1R15B	SMO	TCOF1	PPARG	RERE	DLX4	STAG2	GMPPA	KNSTRN	PACS1	UBR1	SIN3A	APC	PIK3CD	IGF1	MAN1B1	HDAC4	MED27	RPS10	APC2	UBE2A	ARID1A	TRIO	NEPRO	DOCK7	SOS1	WRN	OGT	FOXP1	IFIH1	KCNH1	PIGG	SMARCD1	FRMPD4	DOCK6	PRDM13	RALGAPA1	DEAF1	PIK3C2A	ATP6V1B2	HERC2	UGP2	PRKD1	SMARCC2	RAB3GAP2	AEBP1	GDF3	CDH2	THOC6	XRCC4	ZC4H2	BICRA	CAVIN1	TFAP2A	USB1	RPL18	SPEN	NELFA	PEX6	MAFB	MID1	RPL31	HEATR3	H1-4	RPL5	SRY	PEPD	SVBP	NPAP1	DPM2	RAD21	TBC1D24	CCNK	NSUN2	SLC9A7	TBX2	SLC12A6	KDM4B	CDC42BPB	SNORD115-1	CAMTA1	ERMARD	DHX30	NUDT2	NOVA2	NIPBL	PWRN1	NRAS	ADNP	GNB2	SLC25A24	RPL26	BRAF	MEIS2	ABCC9	H4C5	POLR1D	SNORD116-1	PWAR1	INTU	SETD5	ARHGEF2	FRMD4A	TAF6	PPP2R1A	SOX4	SPRED2	ALG12	CWC27	MYO18B	TCF4	SOS2	BRCA1	H3-3A	TBC1D20	ALDOA	NOTCH3	ACTB	MADD	NSD1	TSR2	INSR	KRT85	CHST3	ALX3	HRAS	ALX1	GDF11	SMC3	TTC5	SLC35C1	KCNJ8	NBN	SYT1	ASH1L	FKRP	POLR1B	RPS19	ADARB1	CDK13	CCDC22	RASA2	TRMT10A	COG7	IRX5	RAF1	ASXL1	RPS15A	MAP2K1	RAB3GAP1	RPS20	ARID2	FRAS1	EP300	STT3A	NOTCH2	EMC1	MAN2B1	DPH2	MAGEL2	ANKRD11	RBL2	CPOX	HUWE1	ANKRD17	RPS17	BSCL2	MED13L	PPP2R3C	DPF2	SCNM1	NF1	SOX11	TBX15	SRCAP	ALG11	PEX1	RPL35	MAB21L1	B3GAT3	MYH3	ARX	ALG9	LMX1B	RPS7	CAV1	NFIX	LMNA	AGPAT2	WBP11	CNOT3	MAP3K7
HP_ABNORMAL_HAIR_QUANTITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HAIR_QUANTITY	FOXP3	MT-ND4	MGP	GABRA3	ARSB	NDUFA9	ODC1	TMCO1	CTCF	GJB2	SPATA5	ALX1	ZBTB20	TGM1	LMNA	GPC4	EDAR	GNE	ZNF699	AR	EP300	TERT	NUP107	SMARCB1	RNU4ATAC	ASXL3	ADAMTS3	ABCA5	RMRP	SETD2	EHMT1	NDUFS7	GNPTAB	KRT71	FZD2	NUS1	CTNND1	SPOP	RNF113A	H6PD	TSR2	NAGLU	MITF	ZMPSTE24	NDUFA13	CYP17A1	MED13	SRY	GJB6	KCNN3	NOP10	PTPN11	COX15	CHSY1	MBTPS2	ANKRD11	WAC	B4GALT7	DOCK6	AIP	SLC39A4	AXIN2	NDUFA2	PCNT	TINF2	HNRNPR	TAF1	NFIX	ARID1B	VPS33A	ZNF407	TGM3	KRAS	TWIST2	CREBBP	POLR3A	ALMS1	H3-3B	SMCHD1	NOTCH1	TP63	TRPS1	LIPH	RUSC2	DPH1	KRT74	USP8	KAT6B	NFKB2	RIN2	WT1	NDUFAF6	EDARADD	FLII	FLI1	KATNB1	NMNAT1	TUBGCP2	KMT2A	ABHD5	DPH5	HSPG2	IFT43	SULT2B1	AHSG	CTSC	KDM5C	ARID1A	BAP1	TRIO	HLCS	NTRK1	EBF3	RAI1	IRF6	BCAS3	SGSH	RECQL4	GNRHR	GNA14	CDH2	USP48	MAP1B	CAVIN1	SPEN	PEX6	SDR9C7	LIPN	ALOXE3	GNA11	SATB2	PPP1CB	IL1RAPL1	FGFR1	RAD21	PCGF2	MT-ND5	EXOSC2	IKBKG	TLR7	MAF	ATP7A	CUL4B	KRT17	DHX30	GABRD	KLF13	PTDSS1	EDA2R	GJB3	SLC25A24	KCTD1	RIPK4	IGF1R	HID1	UBR7	ABCC9	POLR1D	NR0B1	ITGB4	DDB2	TCOF1	COL3A1	KMT2D	SPRY4	ATP6V1B2	FRMD4A	SOX18	MMP14	FREM1	MARS1	ERCC2	PNPLA1	UBE3B	ABCD1	SLC30A2	CBL	APCDD1	GATA4	HTRA1	SLC19A3	ABCA12	RBPJ	PDHA1	INSR	CDH11	TTC5	B3GALT6	SURF1	AIRE	RAG1	CDSN	ANTXR1	NDUFS8	WDR35	MAPK8IP3	TRMT10A	COG7	VAC14	ASXL1	HR	PARN	BMP2	CCDC28B	ZNF341	SASH1	IFT122	NRAS	NDST1	LZTR1	RPS23	NOTCH2	KNL1	PHF6	MOGS	SPINK5	MAN2B1	PRKACA	ELMO2	WRN	GLB1	TTI2	CD28	CPOX	TTC8	SMC1A	SOX6	MAPRE2	COL7A1	FLNA	GJB4	MT-TF	FGF8	RHOA	NXN	GJA8	SOX11	SLC7A7	CARS1	FAS	KCNH1	SCAPER	SRCAP	PRR12	CEP290	FGFR2	ACD	STUB1	WASHC4	MED25	PEPD	SOX10	BCORL1	CAV1	TRAPPC9	ERCC5	ASPRV1	ACVR1	PHIP	PRKACB	BRD4	NR3C1	ERCC6	NEK1	MGAT2	KCNK4	SHOC2	ZNRF3	LSS	PRKAR1A	EDNRA	CHD7	NR5A1	LMNB2	KIFBP	PSMC3IP	CDH3	POLR1C	RAB18	NANS	MEG3	MRPS22	XRCC4	IDUA	RBM28	AMMECR1	RRAS2	DVL3	SREBF1	STAG1	XYLT1	FOXN1	WNT4	DCLRE1C	MT-TH	CDK5	WNT5A	CCDC47	TP53	EDA	TNFRSF1B	WDR81	MRAS	BCL11B	SMPD4	UROS	PIK3R1	FTL	CNP	SNX14	GTF2H5	MAP2K2	DPAGT1	VPS37A	TBC1D20	SNAI2	CHMP1A	KRT81	TRAIP	ZNF711	RPL21	SEC23A	PPP1R21	MAPKAPK5	KLHL24	IDS	CFAP418	PEX7	BBS1	FBXO31	RAB3GAP2	PPP1R15B	DUSP6	FOXRED1	CYP11B1	DLX4	CDH1	PPARG	SDCCAG8	SMAD4	RAC1	WDR19	COL11A1	SPP1	MED27	USB1	KDM1A	UBE2A	PORCN	CLN3	SMARCC2	PADI3	UROD	BMP15	POLR3H	NECTIN1	CWF19L1	HDAC8	OGT	DKC1	LPAR6	TUBB	KRT14	UGP2	PIGN	MSTO1	TSPEAR	PHGDH	BICRA	CHD5	CDH23	PQBP1	DSG1	SUZ12	GSN	HGSNAT	CENPE	HEATR3	KRT6B	FSHR	NDUFS2	CSTB	ERCC3	NSUN2	DVL1	LTBP3	TTC7A	AARS1	PLAA	LIPT1	TRIM32	LAMB3	CAPN15	SLC29A3	PTPN22	KIT	MT-CO1	C18orf32	MAP3K1	OFD1	AEBP1	PRKCZ	SETBP1	CACNA1C	BRAF	CLMP	SLC1A4	DNMT3A	TAF6	ALDH6A1	SOX4	VAMP7	EVC2	DHX37	NSRP1	MKKS	NUP85	BRCA1	DLK1	WNT10A	POR	RAG2	SF3B4	PTEN	RPL10	NIPAL4	ATR	KCNJ8	SETD5	GLI1	TRMT1	CKAP2L	KRT25	CTC1	SMO	CERT1	CST6	KMT2B	RAF1	TYMS	ST14	BANF1	RAB3GAP1	CWC27	MEN1	GJA5	AGPAT2	LIFR	UBE4B	MESD	PLK4	LEMD3	KCNMA1	LAMA3	ATP6V0A2	SMARCD2	PPP2R3C	DPF2	ALG9	GPC3	NECTIN4	SNRPE	KISS1R	SLITRK1	KRT83	PIGU	USP9X	LHB	IL2RA	PEX1	PDE11A	ORC6	MAP2K1	ARX	ANAPC1	HRAS	GNAS	MT-CO3	FGF17	SMS	LAMC2	BTNL2	TBCK	WBP11	MAP3K7	MT-ND1	UBA2	EOGT	COX5A	BBIP1	PNPLA6	AXL	KIAA0753	DEAF1	NHP2	HNRNPU	UGDH	CASZ1	ALOX12B	IPO8	ZFPM2	FBXO28	CEP19	NKX6-2	SMARCE1	PIGL	IFT140	COL17A1	ATP6V1A	COL18A1	TRIM8	ARL3	DSG4	CASR	ATP2B1	NPHP1	MT-TL1	FAM111B	BBS5	SMARCA4	SKIC2	NDUFB8	PHF8	LIG4	MMP2	SPIDR	EXT1	PERP	WWOX	MED12	GJA1	RRAS	RTEL1	RIT1	KRT5	DCAF17	CYP19A1	NDUFA12	MTX2	HS6ST1	HLA-DQB1	NDUFAF2	ASXL2	HSPA9	PSMD12	TBX3	DSP	EDN3	PRDM16	KNSTRN	PACS1	SRD5A3	WDR11	PAX3	XPC	GTF2E2	SKIC3	APC2	FOXL2	MT-ND6	NDUFA10	HLA-DRA	GATA1	ADAMTS2	PDPN	CDC42	WNT10B	NPM1	PRKG2	AP1B1	EPS8L3	SCO2	MT-TS2	SLC27A4	FIG4	NDUFS3	NEU1	SMARCD1	MT-TQ	ROR2	NDUFA4	ZIC2	BBS2	DMRT3	CDKL5	KDM4B	EBP	TMEM147	SPTBN1	STAT4	DLX3	NUDT2	JUP	ADA	NF1	GNB2	WRAP53	PDE8B	ERCC8	ZMYND11	KRT86	NDUFV1	SPRED2	FOXE1	CNOT2	TASP1	CSGALNACT1	CDK10	NSD1	GNRH1	KRT85	MSX1	MPLKIP	COG4	ARHGAP31	DDB1	NSMF	TBX15	NDUFAF3	UQCC2	TOE1	B3GLCT	MMP23B	PPOX	BLM	BPTF	FSHB	AFF4	HLA-DQA1	PET100	AKT1	FUT8	GATAD2B	KDM6A	IFT27	IRAK1	ATRX	ERLIN2	ATRIP	HRURF	PROK2	PKP1	ALX4	CLDN1	BSCL2	RNF125	CBS	RBBP8	CERS3	TLK2	OCRL	PLEC	MBD5	SMARCA2	EZH2	NDUFA6	GUSB	ARMC5	BBS4	ZPR1	BTD	KANK2	PUF60	HLA-B	NDUFS4	LORICRIN	GPR101	P4HA2	POGZ	NDUFAF5	SOS1	VDR	CCDC141	FMR1	TERC	CEP152	SUCLA2	DCLRE1B	EIF5A	NDUFV2	ADAT3	CYP4F22	ITGA3	CLCN3	NFKB1	CTLA4	AFF3	HIVEP2	FOS	MCCC2	POP1	CCBE1	BBS10	BBS12	IL7R	MC1R	RNU12	SLCO2A1	FAT4	ECM1	HOXC13	DLL4	DSC3	SKI	ALDH18A1	PI4KA	APOE	SDHA	HPGD	LZTFL1	THUMPD1	HLA-DRB1	PAPSS2	GNS	KREMEN1	MMP1	HFE	CEP57	UQCRFS1	POC1A	TMEM94	KISS1	PRPS1	IL2RG	CHRNA7	MAPK1	TRPV3	TRAPPC10	MTFMT	LRPPRC	NFKBIA	WDPCP	VPS13B	LRP1	GTPBP2	STING1	CANT1	PSMB8	IQSEC2	EXT2	BRF1	TBCD	LUZP1	UBR1	PIK3CD	MKS1	PACS2	KRT10	NEPRO	TACR3	ANOS1	TAC3	EMC10	FHL1	DOLK	KCNAB2	TFE3	SLC25A12	PRKD1	SOX9	TFAP2A	DMXL2	CENPJ	CYB5A	SEMA3E	CSNK2A1	HPD	ESCO2	ZNF292	CDC42BPB	MDM2	NDUFS1	RERE	ATP6V1E1	BCS1L	FEZF1	NIPBL	BNC1	BTK	PRKCD	PCDHGC4	HMGA2	DOCK7	KRT6A	CACNA1G	TACO1	EDNRB	IFT74	FGF3	XPA	SOS2	TOGARAM1	ITGB6	ARL6	TARS1	IFT52	SRA1	PYCR1	CDON	SMC3	PRIM1	HDAC4	NBN	PDGFRB	ASH1L	POLR1B	TRAF6	IL6ST	KRT16	DNAJC21	GLI3	RASA2	KDF1	SHROOM4	CTNNB1	HSD3B2	IRX5	TWIST1	ARID2	ZSWIM7	FRAS1	ERCC4	CAMK2B	IFT172	DPH2	KANSL1	MT-CO2	BBS7	KDSR	BBS9	CDKN2A	CRIPT	RTL1	COPB1	WLS	AIMP2	NSDHL	MAB21L1	OTUD5	ECHS1	DYNC2LI1	PSMC3	ASL	PROKR2	ADNP	MT-TW	HEPHL1	EVC	TALDO1
HP_WHITE_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WHITE_HAIR	GNPTAB	PADI3	TINF2	TYR	WRAP53	DKC1	TERT	KITLG	NPM1	NHP2	MC1R	RTEL1	PAX3	USB1	TYMS	CTC1	TGM3	MYO5A	OCA2	SLC45A2	NOP10	TERC	PARN
HP_PATCHY_HYPOPIGMENTATION_OF_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATCHY_HYPOPIGMENTATION_OF_HAIR	PAX3	FAS	SOX10	SNAI2	MITF	WRN	CHN1	KIT	HRAS	EDN3	PEPD	PTPN22	TERT	KITLG	TYR	TFAP2A	SALL4	EDNRB	LMNA	MAFB	TMCO1
HP_RECURRENT_CUTANEOUS_FUNGAL_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_CUTANEOUS_FUNGAL_INFECTIONS	IL2RG	SREBF1	TFRC	WDR1	ATRX	IL17F	USP8	IL17RC	STAT1	ADA	RFX5	MVK	DCLRE1C	CARMIL2	RFXAP	DOCK2	KNSTRN	STAT3	PGM3	PIK3CD	RFXANK	CLEC7A	IL7R	ITGB2	AIRE	CIITA	TOM1	TP53	CD40LG	IL2RA	IKBKB	BRAF	GJB2	CD3G	IL6ST	NR3C1	CDH23	IL17RA	CD247	SP110	CD3D	USP48	TLR8	AP3B1	EPG5	CD3E	CARD9	ZAP70	GJB6	ZNF341	JAK3
HP_INCOMPLETE_PARTITION_OF_THE_COCHLEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCOMPLETE_PARTITION_OF_THE_COCHLEA	SIX1	ORC1	EYA1	COL4A6	HAAO
HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_VESTIBULE_OF_THE_INNER_EAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_VESTIBULE_OF_THE_INNER_EAR	SIX1	KCNJ10	SOS2	SOX10	KRAS	SEMA3E	LZTR1	CHD7	SLC26A4	HRAS	PTPN11	FGFR2	SPRED2	GREB1L	NRAS	ESRP1	RRAS	MRAS	MAP3K7	CBL	RIT1	SOS1	RASA2	RRAS2	RAF1	EYA1	FOXI1
HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_SEMICIRCULAR_CANAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_SEMICIRCULAR_CANAL	NRAS	ESRP1	CHD7	SOS2	RRAS	MRAS	SOX10	KRAS	SEMA3E	LZTR1	CBL	RIT1	SOS1	RASA2	RRAS2	PTPN11	FGFR2	SPRED2	RAF1	GREB1L
HP_APLASIA_OF_THE_SEMICIRCULAR_CANAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_SEMICIRCULAR_CANAL	NRAS	SOS2	RRAS	MRAS	KRAS	LZTR1	CBL	RIT1	SOS1	CHD7	RASA2	RRAS2	PTPN11	SPRED2	RAF1	SOX10
HP_ABNORMALITY_OF_THE_INTERNAL_AUDITORY_CANAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_INTERNAL_AUDITORY_CANAL	SIX1	AKT1	POLR1B	POLR1C	PRRX1	ERF	EYA1	FGFR2	POU3F4	POLR1D	GJB2	TCOF1	FGFR3	SALL4	CHN1	PTEN	GJB6	MAFB	OTX2	TWIST1
HP_NARROW_INTERNAL_AUDITORY_CANAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_INTERNAL_AUDITORY_CANAL	AKT1	POLR1B	POLR1C	PRRX1	ERF	FGFR2	POLR1D	TCOF1	FGFR3	SALL4	CHN1	PTEN	MAFB	OTX2	TWIST1
HP_ENLARGED_VESTIBULAR_AQUEDUCT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_VESTIBULAR_AQUEDUCT	SIX1	KCNJ10	SLC26A4	HRAS	MAP3K7	EYA1	FOXI1
HP_FUNCTIONAL_ABNORMALITY_OF_THE_INNER_EAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FUNCTIONAL_ABNORMALITY_OF_THE_INNER_EAR	NLRP3	LRP2	MT-ND4	ADGRV1	SDHB	TNNC1	ZIC2	ODC1	VPS37D	MECOM	POU1F1	YARS1	TRNT1	RGR	GJB2	SPATA5	IDH3A	HS2ST1	ABCC9	ASCL1	OPA1	PLCH1	PRPF4	MCM2	LRP12	VHL	MFN2	ECE1	TGIF1	ELMOD3	DES	UBA1	ZNF699	ITGA2	SERAC1	FHL2	MT-ND1	NEFL	NODAL	EIF3F	PTPN11	DNMT3A	MT-TK	SALL4	MT-TC	RET	TECRL	THPO	DGUOK	NARS2	SLC7A14	STRC	MEGF8	SIX3	PCARE	CLCNKA	ERBB2	SIX1	ACTN2	ARSG	SPTLC1	ROBO3	MITF	PEX10	DNMT1	AAAS	SH3TC2	MYO7A	PEX3	ASAH1	LETM1	RHO	CHSY1	PUS3	SMCHD1	ZEB2	TMEM132E	XYLT2	COX16	IARS2	CCDC141	AIP	DLL1	MAX	XPNPEP3	TMEM126A	CDH23	ANKRD1	PDGFB	HOXB1	LARS2	GP1BB	PRPS1	TOP3A	KCNJ10	LHFPL5	TPO	ALMS1	VPS4A	KCNE1	ERCC5	ARL3	REST	TNC	CALM2	RPS6KA3	PRTN3	CHN1	PEX5	DUSP6	SCN5A	FGFR3	RP2	MAP3K20	PRG4	ERCC8	FGF10	STAG2	PGM3	USH1G	GNAS	CLTC	ACTG1	LONP1	NLRP12	SLC1A3	IGF1	FKBP6	C9orf72	KIF7	CRB1	NDUFA1	EYA4	NMNAT1	MYPN	MT-ND6	PEX6	ABHD5	POU3F4	SOX3	CCND1	NAGA	IGBP1	MT-ATP6	LHX3	NDNF	CHD7	FGF8	NDUFV2	CYP7B1	MT-TS2	GJB6	MT-TQ	SPRY4	COL4A3	MT-TW	COL11A2	PMP22	ABHD12	GNB1	CDON	MT-TL1	SLC30A9	GLI2	COL4A5	PEX2	GNRHR	LARS1	PIK3R1	NOP56	DIAPH1	SDHA	PNP	DLX5	MAFB	GATAD1	IL12A-AS1	EYA1	SNAI2	CLCNKB	NR2E3	WNT10B	MAN2B1	FTO	RAD21	SOX10	NDUFS4	MT-ND5	FGFR1	ERAL1	EXOSC2	DHX16	TANGO2	USH1C	SLC52A3	TULP1	GUCY2D	MAF	SLC26A4	SNRNP200	SLC12A3	KDM6A	GABRD	CLIC5	ARSA	BEAN1	PTDSS1	ATP1A2	FKTN	FBXW4	HDAC4	DDB2	SEMA4A	ATP6V1B2	PNPT1	SALL1	PDE6A	BAG5	RNF13	SLC25A4	ERCC2	COX10	RRM2B	SOST	THOC2	NOTCH3	FLI1	SLC25A1	KITLG	PTPRQ	GJB3	NRL	CEP78	SLC25A11	EPAS1	STAT3	MPL	POLG	DSP	CISD2	COL9A1	COL2A1	SLC26A5	USH2A	TCAP	SGMS2	WFS1	ADAMTSL1	KIF1B	LRP5	CRYAB	MPEG1	TPK1	GJC2	TWNK	WDR37	IDUA	COL11A1	GATA3	TRMT10A	MT-TE	JAK2	NDUFS1	BAZ1B	PDZD7	PDK3	FOXI1	BEST1	GTF2E2	MT-TH	LZTR1	SLC52A2	PCDH15	ALDH18A1	MOGS	IMPDH1	DVL1	CASK	PRPF8	FEZF1	ELMO2	PEX16	FOXH1	BSND	EIF4H	DNM1L	SURF1	PEX11B	SHH	SOX6	ERCC6	MT-TF	ANKH	GJA8	KLRC4	CSRP3	AHI1	KIZ	FAS	HGF	FAM149B1	RFC1	NDUFAF3	MRPS2	ALG11	KCNQ1	MYD88	CLRN1	FBXW7	PEX1	TOPORS	RBM20	DUOX2	SCD5	SYT2	PDE6B	NUMA1	PEX12	CHCHD10	IFT140	CALM1	MAK	DISP1	SMO	ACVR1	WDR11	POMGNT1	KCNA1	CNOT3	DNASE1L3	BRD4	UNC13D	CERKL	MET	COL9A2	MGAT2	ACTC1	STIL	CAP2	GATA2	FAM161A	GCDH	COL9A3	PRDM5	COL3A1	IL10	GUCA1B	FGF14	PEX7	CDC14A	CACNA1A	COCH	MYMK	MAP3K7	PEX13	XRCC4	BCOR	COL27A1	TIMM8A	SEMA3A	DCC	OTOF	CTBP1	MTSS2	AMMECR1	WAC	RRAS2	METTL27	TAF1A	CDK5RAP2	STAT4	FGF3	SLC12A2	ITGA2B	BMP4	GLA	POLD1	GPC4	SYNE4	FGFRL1	TSPEAR	G6PC3	KARS1	ZIC1	MRAS	ARHGDIA	GLIS3	ADK	SLC4A11	GDF6	PRPF3	RBP3	SLC5A7	ATP1A3	PDE6G	GCGR	SNX14	GTF2H5	PRKAR1A	ERAP1	PAX3	BCL7B	NRTN	IFT172	CREBBP	ABCA4	PEX19	NCF1	GDNF	SRP72	FAM20C	ABCD1	GRAP	CRKL	MT-TV	PNPLA2	RPL10	PPP1R15B	RDX	RP9	PLN	IFNGR1	RERE	PIGV	FITM2	TBX22	BRAF	OFD1	ACY1	EDNRB	ACTB	RAC1	DMD	MT-RNR1	HACE1	DSPP	ADCY1	KRAS	TMPRSS3	PROM1	TPM2	PISD	MED12	NDUFS8	MLXIPL	RARA	TAOK1	FLRT3	NDUFB9	SDHD	NEU1	POMK	MRPS7	CEACAM16	TUBB4B	BICRA	MAPK1	RYR1	GLI3	GBA1	NDUFB3	MYO3A	MYH7	GJA1	HNRNPK	FIBP	ERCC3	SH2B1	DUX4	CACNB4	ATRX	ILDR1	PLAA	PTRH2	PCNT	NDUFS2	CNGA1	SGPL1	EPS15L1	KMT2D	C1QBP	NDUFAF8	NDUFAF5	NABP1	SLC18A3	DTYMK	PRMT7	TIMMDC1	MPZ	HOXA11	RIPOR2	PTPN22	SPNS2	FGFR2	MT-CO1	DSG2	PRKCZ	SETBP1	GRHL2	C4A	MT-ND3	PSAP	PNPLA8	TARDBP	HSD17B10	KCNH1	NOG	SQSTM1	PRCD	IL23R	SOX2	MEFV	SDHC	NPM1	ALG2	LMNA	MT-TP	AP1S2	SPATA5L1	BBS1	COL4A6	NPPA	TDGF1	DCHS1	CARS1	BUD23	STX11	GRXCR1	MYL2	SNAP25	ARL2BP	SELENOI	GFER	SNAP29	GMPPB	CD109	CIB2	RAF1	MT-ND2	MAP2K1	GNPTAB	TRAPPC11	MIA3	SAG	ITGB3	RNF113A	NDUFS3	FAR1	CALM3	MEN1	TRIOBP	GJA5	MICOS13	HESX1	OTX2	SIX6	VPS11	VCL	TBK1	LRTOMT	MT-CO2	UBE4B	GAS1	TYMP	PEX26	TBC1D24	MT-TN	HGSNAT	ERCC1	MBTPS2	PPP2R3C	IDS	ARX	KISS1R	HAND2	MYH14	TNFRSF1A	EDC3	LDB3	PTCH1	RNASET2	TECTA	NF2	SUCLA2	ADPRS	MT-CO3	RPGR	OTOA	GSDME	PORCN	HOXA1	TBL1XR1	AHR	TBCK	PLS1	FSCN2	IRF2BP2	NDUFB10	FGF17	HAAO	ARSL	NDE1	FIP1L1	ATP6V1B1	RBMX	TET2	DAB1	GREB1L	HAX1	FLNA	CASZ1	DNAJC3	TLR4	PRPF31	KIAA0586	DHCR7	STAT5B	HSPG2	TMEM38B	MARVELD2	EYS	GALE	FH	TRAPPC4	ESPN	SEMA3D	RRAS	BBS2	REEP6	SMC1A	MYH9	RIT1	NUBPL	NDRG1	DCAF17	ATP7A	VCP	CLRN2	ALG12	HS6ST1	YAP1	NDUFS7	NDP	IMPG1	IYD	LOXL3	TP63	GRXCR2	DHDDS	CLPP	TMPO	FRG1	ATP11A	CTNNB1	VPS33B	PRDM16	NDUFA11	HLA-DPB1	AGBL5	ARNT2	DUOXA2	XPC	PRPH2	DIABLO	RPE65	PDPN	CDC42	GPSM2	HOMER2	COA8	PHYH	ANOS1	AP1B1	COQ6	TTC8	WHRN	TNFRSF11B	ESRP1	LMNB1	CLIP2	FIG4	PRKDC	GJB1	BAG3	MT-TI	TPM1	ENPP1	CRYM	DLX6	PML	TRPM4	CPLX1	NDUFAF2	EBP	SPATA7	TMEM147	SPTBN1	GBA2	STXBP2	MYH11	JUP	CNOT1	SPTBN4	PRF1	TBL1Y	NRAS	NDUFV1	RTTN	TMEM127	HLA-B	AARS1	COQ2	CDC45	ARHGEF18	TTN	ATP2B2	P2RX2	TNNI3	MDH2	DIAPH3	EPRS1	TG	ABCC1	EDN3	NSD2	POGZ	PNPLA6	RYR2	MEOX1	EPG5	TMEM126B	ESRRB	DMP1	TNNT2	FOXC1	CSPP1	CHAT	MARS2	GAB1	LIG3	GYG1	NSMF	ROM1	UQCC2	ATP6V0A4	CA4	SLC39A7	NDUFAF1	TK2	MMP23B	ZNF513	RP1L1	RLBP1	OSBPL2	OTOGL	PAX1	AFF4	ELN	GNRH1	CDK8	ATP6AP1	PHOX2B	SCN2A	CASQ2	GGPS1	KLHL7	BDP1	MAP1B	PROK2	FLNB	B3GALT6	PPCS	IL17RD	AP1S1	PEX14	CAT	S1PR2	LAMA4	SLC29A3	NDUFS6	MERTK	GUSB	ATXN3	CEP250	HLA-DPA1	BTD	CRX	PSEN1	KCNN3	RDH5	PROKR2	NDUFAF4	SLC44A4	P4HA2	ACOX1	DMXL2	SOS1	DLST	TRDN	HSD17B4	FXN	RP1	ABCC6	IARS1	CLCN3	GLYCTK	ADA2	FUS	MT-CYB	COG5	MPDZ	LOXHD1	PRPF6	GIPC3	CBL	RNU12	COL13A1	SCAPER	SPEN	TUB	ROR1	RDH12	SKI	HOXA2	HDAC8	IMPG2	ACO2	SUMF1	EFNB1	SEM1	HLA-DRB1	GTF2IRD1	DBH	SH2B3	DKK1	FBN1	KISS1	SLC19A2	PPIP5K2	CD164	CTLA4	MYCN	SBF2	MRPS28	KIAA1549	ELOVL1	SLC17A8	VPS13B	TMC1	VAMP1	FKBP14	MYH6	BTRC	DCDC2	NEK2	TWIST1	MPLKIP	LMX1B	MYO6	ERBB3	LUZP1	AIFM1	UBR1	NDUFA6	DNMT3B	ATG7	CATSPER2	TRPV4	RFC2	TBL2	NF1	PRRT2	TRPV3	PUS7	TACR3	ZNF469	NKX2-5	JAG1	CDH11	GALK1	TUBB3	TAC3	GTF2I	MYBPC3	NOTCH2NLC	CNNM2	CDHR1	KCNAB2	PROP1	CCBE1	TPRN	PIK3C2A	SEMA3C	AP3D1	CCDC50	TFAP2A	MYO9A	ARL6	GP1BA	HARS2	TXNRD2	PRORP	STX1A	PAX2	LRAT	DNAJC30	IFT88	PERP	CDC42BPB	BCR	HTRA2	SLC39A14	BCS1L	NIPBL	CNGB1	LHX4	MVK	MPZL2	ZBTB16	MYO15A	SGCD	BTK	RAB23	RNF220	SLC35A2	HARS1	DOLK	SREBF1	IL12A	SUCLG1	XPA	SOS2	FOXRED1	TARS1	CACNA1G	CFAP418	CD151	SMPX	GDF5	GIPC1	SMC3	SPRED2	RFT1	PDGFRB	SF3B2	ASH1L	NEXN	KCNJ16	ZMPSTE24	SARDH	TYR	SLC5A5	RASA2	TRRAP	ZNF408	IRX5	TAFAZZIN	CLDN14	PSEN2	ERCC4	CLDN9	CCR1	KYNU	AGRN	NKX2-1	PLOD3	GTF2IRD2	PHEX	LIMK1	PJVK	FAT4	IDH3B	DHX38	TMEM270	ARID1B	MIR96	SIN3A	LRP4	UBAC2	NDUFB11	EPOR	SCN1B	BCAP31	GMPPA	RPS28	VSX1	NAXD	DNAJC19	RBM8A	SDHAF2	SCN1A	EP300
HP_ABNORMALITY_OF_THE_DORSAL_COLUMN_OF_THE_SPINAL_CORD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_DORSAL_COLUMN_OF_THE_SPINAL_CORD	ALDH18A1	SETX	ABCD1	FAR1	DARS2	ATXN1
HP_ABNORMAL_CNS_MYELINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CNS_MYELINATION	NDUFB10	NDUFA9	CTSK	NACC1	C2orf69	TRNT1	FBXL4	SAMHD1	SPATA5	PC	HS2ST1	MTHFS	UGDH	GLS	POLR3A	PDYN	GAN	RNASEH2A	PRF1	RNASEH2C	ALDH7A1	PIGY	BMP4	SPG11	FBXO28	NKX6-2	SNORD118	ADAR	MT-ND1	NDUFS7	NARS2	FAR1	AP3D1	PGAP1	PLP1	PHGDH	ELOVL4	COX6B1	SHPK	TRIM8	NDUFA13	TIMM22	MORC2	TUBB4A	NDUFB8	COX15	EIF2B3	EIF2B5	ISCA2	GALC	NCDN	NDUFA2	ALDH5A1	NUBPL	VPS33A	NDUFA12	ADGRG1	RNASEH2B	PRPS1	NRCAM	NDUFAF2	HSD17B4	LMNB1	HLA-DQB1	VPS11	GABRA5	UPB1	AARS1	SPTLC1	POU3F3	GLRX5	RMND1	PSAP	QARS1	PGM3	NDUFA11	CLTC	NDUFA1	AIMP1	NMNAT1	GTF2E2	RNU7-1	EIF2B4	TMEM106B	NDUFA10	CHKA	ZNF526	TMTC3	NDUFV2	BCAS3	FRMPD4	ALG2	SCO2	PEX1	PRKDC	ZNF335	NDUFS3	MMUT	TRRAP	DAG1	COPB2	ZNF148	SDHB	NDUFA4	IDUA	SOX10	RNF13	NDUFS4	TMEM147	RERE	SPTBN1	NGLY1	DHX30	FANCB	MCOLN1	STXBP1	ARSA	SLC6A1	MLYCD	NDUFV1	GNB2	FA2H	CHAMP1	EPRS1	ERCC6	ERCC8	CTNNB1	PNPT1	POGZ	DOHH	PTEN	PLEKHG2	EIF2B2	SLC33A1	KIDINS220	EXOC2	TMEM126B	MADD	FCSK	IBA57	HTRA1	SLC19A3	PDHA1	TBC1D24	SURF1	TMEM240	NRROS	NDUFAF3	GJC2	CLPB	ADARB1	PI4KA	SP110	LSM11	TNPO2	CLCN3	PURA	NDUFS8	NDUFAF1	GPT2	HEXB	TRMT10A	NDUFS1	CYB5R3	DARS2	PET100	SLC35A2	ZMIZ1	HLA-DRB1	YIF1B	SLC16A2	HSPD1	NADK2	PIGG	ATP6V1A	KCNC2	WDR26	ALS2	SPTAN1	MDH2	ERCC1	ARF1	PIGO	EXOSC1	CARS1	MAT1A	NDUFS6	EZH2	RAB3GAP1	FOXP1	LIAS	CNTNAP1	SIGMAR1	ATXN2	TRAPPC11	GRM7	PDCD1	NDUFAF4	CDK19	ACOX1	NDUFAF5	ALG8	SLC1A2	DALRD3	SHANK3	CNOT3	PPP3CA	HIKESHI	ADAT3	ASPA	WARS2	GLYCTK	ITPA	PLPBP	PPIL1	PIGV	TKFC	SMG9	CLCN7	ARID1B	SDHA	NDUFS2	ADSL	ALG14	PHACTR1	POLR3B	KARS1	YY1	LIPT2	PEX19	NUP133	SMPD4	SUMF1	FANCL	BCS1L	TREM2	GABRA2	LEMD2	RARS1	EDNRB	GTF2H5	DPAGT1	TIAM1	EXOSC5	MTFMT	LRPPRC	GLUL	ELOVL1	MMACHC	GFAP	SETD1A	PEX7	AIFM1	PPP1R15B	ABCD1	MPLKIP	NARS1	FOXRED1	ZC4H2	TBCD	NDUFA6	FUS	TREX1	EIF2B1	DYRK1A	ACY1	AHCY	MED27	KDM1A	PYCR2	SLC1A4	DDX6	GEMIN4	NEUROD2	PPFIBP1	POLR1C	BRAT1	ATP6AP2	ALG13	TAOK1	NDUFB9	YRDC	SLC25A12	ISCA1	SLC12A5	TXN2	GTPBP3	NDUFB3	DARS1	ERCC3	EIF2AK2	GAA	ATP1A3	LIPT1	NDUFAF8	SNIP1	ACER3	CACNA1I	RNF220	H4C5	DDOST	C18orf32	TRAPPC2L	L2HGDH	MT-ND3	TACO1	TIMMDC1	TRMT5	LMX1B	ALDH6A1	MTTP	PRUNE1	RBM8A	PPP2R1A	CYB5A	TARS1	INSR	FOCAD	ALG9	BOLA3	BCAP31	DNM1L	CDC40	ASH1L	FRMD5	ACTL6B	PEX10	CTC1	PGAP2	NUP188	TNR	TMEM63A	MT-ND2	KCNN2	ARX	PARS2	PKDCC	ABAT	TUFM	ERCC2	CLDN11	GRIK2	COX14	RNF113A	CYP27A1	NDUFAF6	TAF2	INTU	TGFB1	POLR2A	TTC26	TAF13	CSF1R	PIGW	HYCC1	IFIH1	DHX37	PGAP3	ATP11A	COA8	PEX16	ALDH3A2	EXOC8	GDAP1	PIGU	PEX13	SMPD1	AIMP2	SIN3A	ECHS1	NDUFB11	RNASET2	PIGS	CUL3	CLTCL1	D2HGDH	FBP2	PIGL	AHDC1	ACBD5
HP_PROPORTIONATE_TALL_STATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROPORTIONATE_TALL_STATURE	PPARG	MEN1	CAVIN1	BSCL2	DNMT3A	CAV1	CDKN2C	FIBP	CDKN2B	NF1	CDKN1B	AGPAT2	FOS	CDKN1A	AIP
HP_ABNORMAL_PLACENTAL_MEMBRANE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PLACENTAL_MEMBRANE_MORPHOLOGY	ZMPSTE24	GJB2	ATP6V1B2	LORICRIN	FERMT1	TBC1D24	SMARCAD1	TP63	KANK2	POMP	GLE1	GJA1
HP_CAESARIAN_SECTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAESARIAN_SECTION	POLR3A	PTCD3	CYP11B1	AGTPBP1	CACNA1D	ARSB	TAF1	OPA1	ASXL3	POR	TAOK1	MTM1	MCM4	SATB1	CYP11B2
HP_PLACENTAL_ABRUPTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PLACENTAL_ABRUPTION	CFH	HELLPAR	FANCF	CD46	CFI
HP_DEATH_IN_ADOLESCENCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEATH_IN_ADOLESCENCE	FGB	MFSD2A	GFAP	MADD	TPI1	PET100	ACTN2	MDFIC	SOST	FGA	IL6ST	FGG	DSP	PSMB8	ERCC4	EXOC8	OAS1	COX8A	SATB1
HP_ABNORMAL_BLOOD_CHLORIDE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_CHLORIDE_CONCENTRATION	WNK4	KCNJ1	CUL3	CLCNKA	WNK1	SLC12A1	KLHL3	SLC26A3	BSND	CLCNKB	MAGED2
HP_FETAL_ULTRASOUND_SOFT_MARKER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FETAL_ULTRASOUND_SOFT_MARKER	PIGN	SLC26A2	TBC1D24	HSPG2	GATA6	CLCN3	CDC42BPB	FOXF1	QRICH1	FANCB	CHMP2B	LBR	GRN	ZNF699	PEX11B	NRAS	C9orf72	GNB2	PIGY	RNU4ATAC	WASHC5	CBL	HNRNPK	SLC35A2	PEX12	PIGV	RRAS2	ENPP1	DPYSL5	MAPT	VCP	WNT3	SOS2	SPECC1L	PACS1	TMEM106B	EFNB1	SCARF2	TRIP11	PEX3	PTPN11	TAPT1	PEX5	SPRED2	PEX10	RRAS	MRAS	RIT1	PGAP2	RASA2	LAMA5	PSEN1	PEX2	RAF1	POR	ZBTB18	TWIST2	CCDC22	PSAT1	PEX6	STAG1	MYL9	ASXL2	LZTR1	TRAF7	PEX19	MYH7	PEX14	ABCC6	PEX16	KANSL1	PIGW	PIGA	FGF13	MKS1	PGAP3	MCTP2	WT1	PEX1	PAK2	TBCK	RAC1	ALG9	MRPS16	PIGO	ZIC3	DDX6	GATA1	PEX13	TLK2	HRAS	KRAS	FANCF	TREM2	SQSTM1	SLC30A9	OFD1	EBP	ATP6V1B2	PEX26	ZBTB42	HOXD13	PI4KA	SOS1	BNC2	DPF2	PIGL
HP_ABNORMALITY_OF_COORDINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_COORDINATION	MT-ND4	NDUFA9	VPS37D	NEMF	TRNT1	PI4KA	CPLANE1	MFN2	SLC2A1	GNE	GABRA5	CEP41	GPI	NUP107	NEFL	SPG11	TPM2	RTN2	MT-CO3	FMR1	SGCG	ZNF365	DGUOK	NDUFAF2	DPYSL5	CLCNKA	SEC23B	RNF113A	SYT14	ARSG	NKX6-2	SETD2	SH3TC2	ITM2B	ATP8A2	ASAH1	ATP2B3	PPT1	TMEM67	PDE10A	MECP2	COL6A1	ARV1	TPP1	NDUFA2	RFXANK	FDXR	MFSD8	COQ2	RPGRIP1L	PRPS1	NRCAM	POLR3A	TOP3A	ASS1	TOPORS	VPS4A	POMT1	REEP1	EXOSC9	P2RY11	BCKDHA	PGK1	MOG	HLA-DQB1	NIPA1	RUSC2	MECR	WARS2	YWHAG	GLRX5	PGM3	TCF20	LINGO1	SLC1A3	FKBP6	NDUFA1	UBE3A	ATAD3A	NMNAT1	MT-ND6	APC	ITPR1	ABHD5	DNMT1	ANO10	MT-ATP6	MKS1	PIK3R5	DYM	CHD8	PIK3CA	TTN	CYP7B1	TDP1	MT-TL1	SMC1A	POU4F1	PEX2	USH1G	TPRKB	ASL	NOP56	GABRA2	IL12A-AS1	SCN1B	ZBTB11	REPS1	SOX10	HLCS	TUBB	MT-ND5	SLC25A4	TANGO2	OPA3	CAMTA1	NGLY1	ERMARD	VAMP1	TTPA	RFX5	PLA2G6	SMARCB1	SCN3A	COX20	CHAMP1	DDB2	PAFAH1B1	ALG11	DNAJC13	ABCA7	ARSA	FRMD4A	SYT1	ERCC2	TCF4	HIC1	SLC9A6	SLC25A1	SEMA6B	ZNF423	HTRA1	CACNA1G	SLC6A19	SURF1	CISD2	CDKL5	TPK1	GJC2	PIBF1	MT-ND1	NR4A2	TNPO2	SUFU	NDUFS8	ATXN1	HEXB	FGF14	MT-TE	HCN1	PNPLA6	NDUFS1	MT-CYB	BMPR1B	ALDH18A1	NDST1	SORL1	UBAP1	DARS2	PIEZO2	MAN2B1	TMEM237	PIGG	CTSF	CRAT	BSND	SLC19A3	EIF4H	PTEN	NKX2-1	PEX11B	TCTN2	CLN6	LZTFL1	AUH	PTS	MT-TF	PIGO	PITRM1	POLR3K	ANK1	TREM2	NDUFAF3	PPP2R2B	SDHD	SPART	HADHA	AFF2	TRAPPC11	ACD	KCNA1	STUB1	MCM3AP	PDCD1	PEX12	FZR1	SYNJ1	SLC25A42	GALT	TRIO	LYRM7	GRM1	ETHE1	WDR11	XRCC1	STARD7	PNKP	KATNIP	NDUFS7	GDAP2	GLRB	HPDL	SCN8A	SACS	IL10	NF1	MKRN3	SNRPN	CACNA1A	PRDX3	NECAP1	STN1	PSMC3IP	KCTD7	C19orf12	MRPS22	MVK	METTL27	ATP1A3	INPP5E	SYNGAP1	SATB1	ARMC9	TCTN3	NEFH	NDUFS4	SLC17A5	POLR3B	SLC25A22	SLC18A2	KARS1	SHMT2	NARS1	MTPAP	ERCC4	FGF12	GNAO1	CPLX1	PEX1	SLC5A7	CLCN4	PMM2	SNX14	UQCRQ	PDGFB	OTUD6B	SLC4A1	PIDD1	HIBCH	CP	SNAI2	CHMP1A	FAT4	GMPPB	YME1L1	PDE8B	MPZ	GFAP	NOTCH2NLC	SFXN4	NCF1	DYNC1H1	ABCD1	WFS1	FOXRED1	TUBB3	IFNGR1	SAMD9L	CCDC78	SCARB2	HARS1	FUS	ARX	TRAPPC6B	SMAD4	ARCN1	SNORD118	MT-RNR1	HACE1	CLN3	DLD	RUBCN	LITAF	BMP15	TTC19	ATP6AP2	ERCC6	MLXIPL	NDUFB9	TIA1	HERC2	POLG	RTN4IP1	ALG6	ATP1A2	GBA1	NDUFB3	NDUFS2	ERCC3	KCNJ11	PSEN2	CACNB4	PEX19	KCNA2	PTRH2	NAXE	SCO2	SGPL1	ALG2	SNCA	PRNP	TRPC3	NDUFAF5	COLQ	SLC18A3	AASS	MYO5A	TIMMDC1	GLRA1	HEPACAM	MT-CO1	DNAJC30	MAPT	C4A	MT-ND3	TOGARAM1	TARDBP	SQSTM1	FKRP	MAG	GRID2	IL23R	PNPT1	MRPL12	MT-TP	AP1S2	GNB5	SCN1A	NUBPL	LAMA1	FRMD5	CARS1	RRM2B	CTC1	WWOX	CEP104	NEXMIF	CIB2	DPAGT1	KCNB1	DPM1	OGDHL	SCN2A	GALC	LNPK	GRIK2	GJB1	LAMB2	NSD1	TUBB2B	TBK1	DMPK	TBCE	RNF168	RAI1	MT-TW	PIGW	SARS1	KCNMA1	MAST1	SDCCAG8	TTR	FRRS1L	MYO7A	ADA2	PPP2R5D	BEAN1	PRRT2	CYFIP2	TSPOAP1	GPHN	RNASEH1	CXCR4	TK2	NF2	FAM149B1	ADPRS	ELP1	AFG3L2	BBS1	PRDM8	CTBP1	KIF1B	STIM1	NDUFB10	SLC20A2	DNM1	MT-ND2	DAB1	HAX1	CACNA2D1	KIAA0753	DNAJC3	VPS41	COQ8A	KCNQ2	IFT140	PLP1	PDHX	SLC25A15	COL18A1	TRIM8	ARL3	GLB1	CBY1	CLRN1	ESPN	SMO	SPIDR	ATP13A2	CEP120	CWF19L1	GJA1	RNF216	ACTL6B	TAF1	GABRD	LRRK2	MT-TK	NDUFA12	CEP290	KBTBD13	PMPCA	SLC6A8	LMNB1	LARGE1	POMT2	HYLS1	SCYL1	KNSTRN	FA2H	TUBB4A	XPC	SCN9A	CAPN3	COA8	LRPPRC	MME	ANOS1	MYPN	MED13L	FHL1	FRMPD4	GAMT	MT-TS2	TNFSF4	NDUFS3	CTDP1	NEU1	CC2D2A	BSCL2	MT-TQ	NOL3	PDE2A	ATAD1	NDUFA4	PHYH	KDM4B	KCNJ10	SPTBN1	SLC16A2	NUDT2	SLC6A1	PWRN1	LYST	NDUFV1	TBC1D24	ISCU	CCDC88C	HLA-B	ERCC8	SLC6A5	PWAR1	UROC1	ARHGEF2	CLPB	GABRG2	GSS	OFD1	DOHH	ABCB7	ATP6V0A1	TMEM126B	VPS13D	PSAP	CSPP1	CHAT	MARS2	COG4	WDR81	FXN	NIPA2	GIGYF2	MTRFR	PTPN22	PANK2	MT-TV	PIGT	AARS1	NDUFAF1	PLEKHG4	TRAK1	TCTN1	ELN	HLA-DQA1	AMACR	EP300	PCNA	WHRN	NEB	APTX	WASHC5	CASK	MAGEL2	ALS2	SLC22A5	ERBB3	KIF5A	NFASC	TBC1D2B	TGM6	CEP78	PEX14	MPV17	RNF125	ATP7B	SIL1	SPTBN2	MBD5	SMARCA2	NDUFS6	BTD	ELOVL5	CELF2	SIGMAR1	PROKR2	NDUFAF4	P4HA2	WDR73	TH	PEX26	NFIX	COG8	PNP	HIKESHI	NDUFV2	ADCY5	C12orf4	CLN8	RFC1	COG5	VRK1	HIVEP2	SLC44A1	PRKCG	CTSH	RFXAP	ALDH5A1	RAD50	AHI1	GRN	KCNC3	AP3B2	CNKSR2	ACO2	AGTPBP1	SPTB	PODXL	HLA-DRB1	KCNC1	DKK1	EDNRB	PRODH	CLTRN	ABCC8	VPS13A	GBA2	ACADM	EEF1A2	TECPR2	ELOVL1	MMACHC	RNU12	TMEM70	ERCC5	SLC38A3	GABBR2	GTPBP2	UBTF	LETM1	USH1C	MPLKIP	GDAP1	RAB11B	TBCD	DLK1	NDUFA6	PIK3CD	ATG7	PEX16	EED	NAT8L	VWA3B	RFT1	NADK2	GABRB1	RAD51	ZFYVE26	CLCNKB	PEX6	POLG2	FLVCR1	MTR	ARL13B	GTF2I	GABRB2	GPAA1	ATN1	ATCAY	MYO9A	TDP2	EEF2	TWNK	CTSD	ALMS1	ADGRG1	CDC42BPB	CERS1	GFPT1	COL12A1	STAT3	COQ5	TSFM	BNC1	CAV1	TELO2	RNF220	SLC13A5	TACO1	DALRD3	EXOSC3	XPA	MTFMT	HESX1	TARS1	HS6ST1	IRF2BPL	TMEM216	PDHA1	ATXN10	DHDDS	SARDH	ATXN7	HNRNPH2	PYCR2	CSTB	CYP27A1	TANC2	RPIA	GRIN2D	PEX7	NPC1	GTF2IRD2	LIMK1	SIM1	GRIN1	USH2A	TMEM270	YWHAE	FUZ	NUTM2B-AS1	SLC35A1	INVS	SIN3A	DCX	ALG14	UBA5	RTL1	UBAC2	OGDH	MT-ND4L	NPHP1	TTBK2	TPM3	IQCB1	B9D1	DNAJC19	ACADS	PIGL	ACBD5	ADGRV1	VCP	CUL4B	ZBTB20	LRP12	GRIA2	PDYN	PIGY	OXR1	OPA1	ABCA5	LMNB2	TMEM240	NPC2	ATXN8OS	NSD2	VPS51	EPM2A	SPTLC1	NDUFA13	AAAS	PEX3	DCC	SLC25A46	COX15	NTRK2	ZEB2	CCDC141	DYRK1A	SLC39A4	TINF2	LARS2	AP2M1	HK1	CREBBP	GEMIN5	KIF1A	COL6A2	PEX5	DUSP6	TMEM218	CA8	PIGQ	CLTC	MTHFR	NDUFAF6	C9orf72	NDNF	EBF3	MCOLN1	SPRY4	ABHD12	EIF2S3	GOSR2	SLC30A9	TRAF3IP1	FAT2	CEP164	TERT	LIG3	MRE11	SPEN	TMEM107	SIK1	HTT	COA7	VPS35	NUP214	SNORD115-1	SLC52A3	SRPX2	ELOVL4	DNAJC6	DHX30	SLC12A3	CHD2	GABRB3	GRM7	SLC26A4	MARS1	COX10	DHFR	WDR19	FASTKD2	MEG3	CAV3	MAPK8IP3	TUBA1A	BAZ1B	PARN	CCDC28B	RIPK4	MT-TH	JAM2	SLC52A2	PCDH15	PEX10	MICU1	SDHAF1	FEZF1	DNM1L	DBT	ATP6V1A	MMADHC	KLRC4	PDGFRB	DNAJC5	PRICKLE1	DLL1	MYD88	FBXW7	ATXN2	HNRNPH1	SYT2	CHCHD10	PMP22	CIITA	DNASE1L3	ATP5MK	GCDH	TSHB	FGF8	NANS	PEX13	CSF1R	XRCC4	SEMA3A	CPS1	FGF13	SLC12A6	SPTA1	APP	STAT4	TGFB1	EPB42	GLS	PAK3	MICOS13	BCKDHB	ADAR	AHDC1	ABCA2	IRF4	DLAT	GTF2H5	GRIN2A	OTC	EXOSC8	CLN5	EXOSC5	ERAP1	BCL7B	LMBRD1	CRPPA	SETX	PMPCB	PPP1R21	CDH23	DOCK3	AP5Z1	TBP	PPP3CA	SLC46A1	POLR3H	OPHN1	POLR1C	NHLRC1	DKC1	FLRT3	MSTO1	PSEN1	GSN	RYR1	TMEM231	KLHL41	RARS1	LIPT1	KIF1C	NDUFAF8	HSD17B10	KIT	SDHB	PNPLA8	B9D2	SPG7	PPP2R1A	SMPD1	KCND3	FOCAD	MEFV	RPL10	RDH11	SLC35C1	B4GALNT1	BUD23	IFRD1	MT-ATP8	POU3F4	SNAP25	PGAP2	PYROXD1	ATG5	GCK	TMEM63A	KCNN2	LONP1	FIG4	SLC9A1	GCLC	TMEM138	GCH1	HINT1	SDHA	MT-TN	APOB	AIFM1	AKT1	PPP1R15B	NEUROD2	CAPN1	FOXP2	PUM1	SPR	RNASET2	ACAT1	ZSWIM6	PDZD7	NONO	ROGDI	SMARCE1	FGF17	VLDLR	FBXL4	FKTN	CDK19	PRF1	TLR4	TUBG1	FBXO28	PDX1	PIGK	MORC2	STX1B	ATL1	SYNE1	COX6B1	ZNF592	PDHB	LGI3	NPHP3	HMGCL	NDUFB8	TBC1D23	CACNA2D2	PDP1	SUOX	RTEL1	KDM5B	PRDM13	FOXI1	PAK1	SLC30A10	TOMM40	BAP1	ATP6V0A2	GMPPA	NDUFA11	DMXL2	ACOX1	GTF2E2	LAGE3	APC2	DEGS1	TMEM106B	KIF7	NDUFA10	CDC42	RIMS2	INPP5K	COL6A3	MTTP	IMPDH2	CLIP2	SRD5A3	ACTA1	VWA1	MLC1	MT-TI	HCRT	PDE6D	GBE1	NAA20	EPRS1	POGZ	MYORG	PIGA	FSHR	TOE1	EIF4G1	ZNF142	ACOX2	PET100	ADSS1	ATM	TRAF7	NTNG1	DCHS1	KCNC2	WDR26	TCN2	OCA2	IL17RD	HUWE1	ERCC1	SET	EZH2	PIGP	ATXN3	KIAA0586	ALG8	FTL	GABRA1	SDHC	PLD3	SLC5A6	TXN2	HSD17B4	SUCLA2	MAN1B1	CFL2	CACNA1B	PLEC	COL13A1	PIGV	PMP2	ARG1	UCHL1	THG1L	VARS2	ARID1B	IQSEC1	ADSL	TAT	RORA	PRX	MPDU1	GTF2IRD1	NTN1	NUP62	SUMF1	BCS1L	SOD1	SPAST	SBF2	SGCA	NAGS	CNTNAP2	PCDH19	PURA	SZT2	SLC19A2	RFC2	BRAT1	TBL2	ATP10A	TACR3	PARS2	NELFA	TERC	NUS1	STX1A	DARS1	NPAP1	PROK2	EIF2AK2	CHD7	SMG9	USF3	SLC39A14	PAX6	H4C5	L1CAM	SNORD116-1	ALG13	NR5A1	L2HGDH	IL12A	NPHP4	ARL6	BOLA3	CLCN2	SLC7A6OS	HERC1	SNAP29	ZSWIM7	CAMK2B	CCR1	AGRN	MT-CO2	CTNNA2	FGFR1	PGAP3	SLC2A3	CHP1	HADHB	INS	AARS2	MAB21L1	ECHS1	DEAF1	SLC13A3	NDUFB11	PIGS	SLC1A2	DNAL4	KLLN	NAXD	FAS
HP_HYPOSEGMENTATION_OF_NEUTROPHIL_NUCLEI	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOSEGMENTATION_OF_NEUTROPHIL_NUCLEI	CEBPE	NBAS	LBR	TMEM147	TET2	SF3B1
HP_ANKLE_CLONUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANKLE_CLONUS	GFM2	SPART	HTT	PI4KA	AARS1	SLC52A3	FA2H	ZFYVE27	SLC16A2	KIF1A	ERLIN2	SAMD9L	PLA2G6	KIF5A	SMG9	ABCD1	GALC	SLC39A14	RAB18	REEP1	SPG11	FGF13	TIMM8A	CYP27A1	PEX16	UCHL1	ATL1	SLC1A4	SYNE1	CARS1	ANO10	CD40LG	ADGRG1	STUB1	CYP7B1	NDUFS8	KLC2	CAPN1	ATP6AP2	PSAP	POU3F4	PIGT	VCP	SELENOI	SOD1	SPAST	RTN2	GBA2
HP_KNEE_CLONUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KNEE_CLONUS	SLC52A3	SPG11	MTRFR	SPART	KIF5A	RTN2	GBA2
HP_PRIMARY_MICROCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMARY_MICROCEPHALY	STIL	EIF5A	PSAT1	PHGDH	CEP63	TP53RK	VPS4A	TUBB	LMNB2	RBBP8	KATNB1	TBL1XR1	SPATA5	KNL1	NDE1	SLC16A2	AFF3	EOMES	SMC3	GRIN2A	FIG4	PPP1R15B	PDCD6IP	DTYMK	TRAPPC12	COG7	FRMD4A	NSF	TBCD	TELO2	DISC1	TRAPPC14	SLC1A4	CTNNB1	ARHGEF2	PIGH	IFIH1	CDK5RAP2	SPOP	CLPB	PPFIBP1	MECP2	RNF2	TRMT10A	TUBB3	TSEN54	NCAPD2	ZEB2	YRDC	SLC25A12	KAT6A	CENPE	TPRKB	ZNF335	TRIO	NUP188	VAC14	RELN	TXN2
HP_FUNCTIONAL_ABNORMALITY_OF_THE_MIDDLE_EAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FUNCTIONAL_ABNORMALITY_OF_THE_MIDDLE_EAR	SDHB	FSCN2	CHRNG	CTSK	RGR	IL11RA	IDH3A	ARSL	PRPF4	CPLANE1	DEAF1	ARHGAP29	FGFR2	VHL	IDS	SIX1	ELMOD3	ZNF699	HAX1	FLNA	CASZ1	KIAA0753	RSPH3	ADAMTS3	FRAS1	PRPF31	DNMT3A	SETD2	STK36	PIGL	SLC7A14	CFAP300	CTNND1	PCARE	GAS8	TSR2	HSPG2	TCTN3	EYS	GP1BB	FH	CCDC65	ANKRD11	EXT1	GJA1	RREB1	CREB3L1	PDGFRA	BBS2	FGFR3	SKI	REEP6	MAX	BMP2	SMC1A	NFIX	TMEM67	FREM2	TP63	DNAH1	DNAH5	CDCA7	DDR2	SPAG1	TOPORS	DHODH	ARL3	SMCHD1	FGF9	TRPS1	IMPG1	PSMD12	RP2	DNAI1	CLRN1	CFAP221	ERCC8	FGF10	TBX1	PRDM16	PGM3	LONP1	CDH1	AGBL5	CRB1	FLII	AIFM1	HNRNPK	POU3F4	APC2	IGBP1	PRPH2	SDHD	KIF7	ANKH	MCIDAS	BMP4	FANCF	RPE65	PDPN	GAS2L2	CHD7	MAP3K7	RAI1	DNAAF5	PRRX1	TTC8	GDF5	SPEN	SDHA	DHDDS	EYA1	NR2E3	LMNA	ENPP1	RET	MAN2B1	STAC3	PDE6D	SOX9	RAD21	ERF	PCGF2	LETM1	CPLX1	ZBTB20	SPATA7	MSX1	UBB	TFAP2A	TULP1	GJB6	SNRNP200	FBN1	KDM6A	GABRD	CNOT1	POLR1C	TMEM127	OFD1	SLC25A24	GALNT2	ARHGEF18	MDH2	POLR1D	DIAPH3	GSC	TCOF1	SEMA4A	GMNN	NSD2	PDE6A	NOG	MEOX1	EFTUD2	NOTCH3	NSD1	GJB2	NRL	ALX3	SLC25A11	EPAS1	SOST	USH2A	FANCI	SGMS2	ROM1	DNAAF1	KIF1B	ODAD3	PTPN22	EDN1	CA4	MMP23B	ZNF513	RP1L1	RLBP1	POLR1B	COMT	POR	DNAI2	BPTF	PAX1	AFF4	FLNB	BEST1	SEC24C	TTC12	RPS23	IMPDH1	DVL1	KLHL7	RPGR	PRPF8	DCHS1	ELMO2	B3GALT6	COL2A1	AHI1	CCDC103	KIZ	CCNO	SRCAP	MERTK	MASP1	DNAAF6	FBXW7	CRX	MYH3	HLA-B	COL1A2	PDE6B	SNRPB	P4HA2	IFT140	TNFRSF11A	MPDU1	AMER1	MAK	VARS1	CCDC39	ACVR1	POMGNT1	DLG1	DLST	CNOT3	BRD4	EIF5A	CERKL	NEK1	DNAJB13	RP1	ABCC6	FAM161A	PRDM5	GRHL3	GUCA1B	EDNRA	DNAAF4	PRPF6	CCBE1	FAT4	ERCC6	SCAPER	OTOF	CTBP1	AMMECR1	ODAD4	TUB	RDH12	CDK5RAP2	TSHZ1	HOXA2	HDAC8	IMPG2	SLITRK6	FGFRL1	LRP5	COL11A2	HLA-DRB1	IRF6	FOXJ1	GDF6	PRPF3	RBP3	NME8	PDE6G	ODAD2	MYCN	KIAA1549	IFT172	CREBBP	ABCA4	FAM20C	NEK2	TWIST1	IQSEC2	DNAH11	RSPH4A	RP9	NEK10	LUZP1	TBX22	HYDIN	SPEF2	CFAP298	RSPH1	TXNL4A	RECQL4	GATA1	NF1	RSPH9	RPS26	ZNF469	CDH11	PROM1	DNAAF2	NOTCH2NLC	CDHR1	NECTIN1	KCNAB2	PIK3C2A	ARL6	PRORP	ZMYND10	LRAT	IFT88	FKBP14	SH2B1	RERE	LRRC56	CNGA1	NIPBL	KMT2D	CNGB1	HIRA	RAB23	TELO2	DNAL1	SALL4	PRKCZ	PRCD	CFAP418	ARVCF	SDHC	DNAAF3	ALX1	SMC3	SLC35C1	HDAC4	SF3B2	BBS1	ZMPSTE24	CCDC40	ARL2BP	SF3B4	ZNF408	OSTM1	NOTCH2	DNAH9	GNPTAB	SAG	DNAAF11	GRIP1	UBE4B	B3GLCT	HGSNAT	RHO	TMEM216	IDH3B	DHX38	JMJD1C	FAM149B1	DLX4	RPS28	DRC1	PORCN	AHR	CA2	ODAD1	UFD1	SC5D	ARID2	SDHAF2	EP300
HP_LOSS_OF_EYELASHES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOSS_OF_EYELASHES	GATA1	ZMPSTE24	UROS	UROD	RNU4ATAC	LMNA
HP_ESOPHAGEAL_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ESOPHAGEAL_CARCINOMA	TOM1	MSR1	WWOX	CTHRC1	APC	RHBDF2	TGFBR2	RNF6	ASCC1	STAT1	DCC	LZTS1	DLEC1
HP_FETAL_ONSET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FETAL_ONSET	ZIC2	NPAP1	SOX10	SNAP25	WDR4	FKBP14	NUP155	CPSF3	RPL10	NSD2	CDC42BPB	SNORD115-1	STT3B	KIAA0753	COL2A1	MYH11	LBR	MKRN3	RIPK4	PWRN1	MEGF10	MAP3K7	B4GAT1	PLCH1	ERCC8	SNORD116-1	TNFRSF11A	PWAR1	GNPTAB	PLG	PDX1	KDM6A	VRK1	KMT2D	CLPB	IFIH1	WNT3	CCDC134	TOGARAM1	FARSB	SYNE1	MYRF	NDUFB7	SKIC2	TMEM216	LMOD1	P3H1	TNNT2	CPT2	PRIM1	ERCC5	COX16	TCTN3	CREB3L1	CENPE	ATP1A2	RAD21	EXOC7	PRKAG2	KMT2B	PIGG	SDHD	DCC	GFRA1	LGI4	TWIST2	PAICS	CALM2	TRAIP	SOX18	SLC35A3	MKS1	DYNC2LI1	CHRNG	TXNDC15	FANCB	OBSL1	B9D2	KIF7	NSD1	PSMD12	WDR19	RMRP	MAGEL2	TAF2	KIDINS220	ALG8	ALPK3	KDELR2	NEK8	XYLT1	PYCR1	KIF14	ALX4	PIGA	ALG1	PLOD3	TPM1	DEF6	TBX18	MCM10	SLC12A1	SYT2	GINS1	KIF5C	RAC1	MESP2	CC2D2A	ZIC3	KLF1	SLC35D1	DLL3	CHUK	RNF2	EZH2	ZNF526	KIF20A	GUSB	SOS1	SCN5A	CHD7	FARSA	SIN3A	MDFIC	BMPER	TRIP11	LMNA	PRRX1	SLC30A9	RYR1	ZMPSTE24	HERC2	SHQ1	POMK	ACTG2	USP18	PI4KA	SDHA	GBA1	IL6ST	WT1	PLEC	EXOSC9	PPP1CB	FTO
HP_YOUNG_ADULT_ONSET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_YOUNG_ADULT_ONSET	CFI	F5	GABRA3	LMNA	LMX1B	KNG1	PRPH2	SHOC1	BAG3	LRP12	DAZ1	FKTN	GBF1	CHRNA1	SYCP3	SCNN1G	TTLL5	IFT74	MSH4	SNORD118	MORC2	DNAH17	PSEN1	H6PD	SYCE1	PLG	FOXC1	TNNT2	ATP13A2	ATP7B	GALC	TGFBI	IMPG2	ALDH5A1	PMVK	CACNB4	KCNC3	TINF2	CTNS	KCNJ2	TIMP3	GYG1	NLRP3	JAG2	MAGT1	FBN1	NRCAM	COL2A1	PRDM16	SLC26A8	PMP22	PNLDC1	HFE	ZNF408	RYR2	TNC	LAMA4	BMPR2	VAPB	ACTA1	JPH2	SOCS1	C14orf39	SPRY2	TOR1AIP1	GIPC1	PLA2G6	COL4A1	GGN	MAPT	AMACR	MYOT	NEXN	MAFB	ATP11A	MAK	MEFV	BLK	ATP6AP2	ACTG1	SLC12A5	MSH5	BVES	CASR	CYP27A1	JAK2	TUBB4A	DNMT1	MEI1	DPY19L2	FN1	TERB2	PIK3R5	VSX1	ICOS	FSIP2	RELN	ABHD12	MICAL1	SCN4A	TNNC1	NPHP1	LIG3	CHCHD10	SLC37A4	EPAS1	VAMP1	CDY2A	PRPF4	RPGR	COL6A3	SMN1	PPP2R3C	SELENBP1	TLR7	UNC13D	IKZF1	GARS1	PRPF8	LYST	PSAP	PKP2	AARS1	DSG2	DIAPH3	CCDC62	EIF2AK4	RP1	MYBPC3	RAF1	MEIOB	ATP1A3	SLC25A4	ADGRG2	SERPING1	RPS4Y2	ATP6V0A1	HTRA1	AOPEP	CEP78	OPTN	POLG	HKDC1	SMN2	SPAG17	HSPB3	VCY	ATXN10	HSPB8	TLR8	ALDH18A1	CARD9	PRNP	HJV	MAPKAPK3	PRY2	SFTPA1	PKHD1	CASQ2	GANAB	CATIP	LMF1	PRKAG2	ZP1	SLC4A4	PRKN	ACTC1	SMPD1	RBM20	CATSPER2	STRC	MAP1B	SLC19A3	FLNC	SPG11	POF1B	DAZ3	TPM1	CLN6	TBX18	DHTKD1	RRM2B	RPL10L	TTC21A	DDX3Y	TWNK	NLRP7	THSD4	DNAJC5	C2CD6	ZP3	VCL	SCN5A	CCDC34	PRKAR1A	SLC22A12	ITM2B	SEMA3A	HINT1	ATXN3	CPT2	SCN3B	SLC44A4	REEP1	DAZ2	XRCC2	TIA1	KCND3	USP9Y	GPIHBP1	XRCC1	APOA1	CLCN1	CFAP43	CDH2	MBD4	HK1	MATR3	KCNJ5	AFG3L2	POLRMT	BAP1	CAPN3	PRDX3	C19orf12	RAX2	FBLN5	APC	DTNA	GCNA	HAVCR2	SETX	PMP2	SLCO2A1	GRN	HPRT1	KCNH2	KLHL7	HSFY1	CEBPE	KIF5A	RP2	ZMYND15	TBX3	PSEN2	CPOX	ELMOD3	PRKRA	GCK	IL36RN	BPY2	TNNI3	SLC4A11	VCP	SPTLC2	MARS2	CD164	KCTD17	ZSWIM7	EPCAM	NPPA	AIP	ASTL	FBXO43	PLIN1	NF1	SLC2A10	DYSF	SLC17A9	MYH7	GFAP	INSR	IDS	PDGFRB	SCN1A	MYL4	PPOX	GGCX	TBP	SAMD9L	TMEM43	VPS16	ATXN2	ACTN2	CDY1	TRPV4	SLC19A2	COCH	NR0B1	QRICH2	TERB1	CC2D2A	STAT1	MCM6	ABCA4	ELOVL4	ATL1	DNAJB6	BAG5	PDHA2	NOTCH2NLC	IFIH1	TTN	MOV10L1	SLC34A2	KCNE1	DIAPH2	ATN1	PPARG	DNHD1	DYRK1B	PATL2	ENG	ATP1A2	TULP3	HNRNPA1	STOX1	BBS2	B2M	SYCP2	MAFA	IFT140	DNAJC3	MYPN	ANLN	ZPBP	KCNK3	HAMP	CYLD	FSHB	GAA	SLC39A14	TRIM32	RILPL1	CAV1	SEC23B	G6PD	RIPOR2	TAF4B	TNFAIP3	DSP	TRMT5	DNAJC30	SGCD	SERPINA1	LIPE	AURKC	YARS1	TLCD3B	EIF2AK2	CLCN2	CCDC39	SMPX	SLC7A6OS	SERPINH1	ANO3	TECRL	MYH6	KDM5D	SOST	NOTCH3	SHANK3	LGI1	CHRNA2	STAG3	TBC1D24	FHL1	KCNA5	MSH3	CASK	STT3A	PLN	HCN4	KCNQ1	WDR19	DSC2	ERCC6	NPC1	PDE11A	CSF1R	CACNA1A	SEPTIN12	SH3BP2	ANXA11	ALG10B	FKBP6	CATSPER1	TIE1	TP53	CFAP44	LHB	SNTA1	AAAS	CCND1	CAV3	TYROBP	KCNJ18	NF2	VHL	RAB39B	PRY	TERT	MGME1	CYP7B1	RBMY1A1	THAP1	VPS11	TRDN	PKD2
HP_CHILDHOOD_ONSET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHILDHOOD_ONSET	CFI	IDH3A	GABRA3	ARSB	CYP3A4	SLC20A2	NLGN4X	NEMF	TRNT1	POLA1	APC2	IL11RA	PRSS12	LMNA	USP53	PDSS1	HAX1	KCNQ5	GBF1	B3GALNT2	SPG11	CYP2U1	VPS41	OPA1	TTLL5	SNORD118	NDP	ADAR	GNPTAB	FCHO1	IFT140	OAT	PGAP1	GNB2	NPC2	PITPNM3	MECP2	ATP1A2	CYB561	PIK3R1	COL18A1	SFRP4	TMEM38B	GLB1	CC2D1A	NKX6-2	STS	ATP2B1	P3H2	LGI3	GALE	TUBB4A	LIMS2	SGCG	LETM1	KLC2	MMP2	SNRPN	ATP7B	GALC	SLC39A4	ALDH5A1	WARS2	TUSC3	EXOC7	CACNB4	UROC1	TINF2	SYT2	COL1A2	MIR184	CLCN7	BFSP1	FCGR2A	FKTN	SGCD	JAG2	MYH7	TRPV4	GFPT1	GEMIN5	NDUFC2	MTX2	ANTXR2	CFAP410	LAMA5	SOCS1	NEFL	PSMD12	MLPH	MECR	KCNB1	GRXCR2	PRPS1	FGD4	NFKB2	PDGFB	FRG1	MAFB	ZFYVE19	ATP11A	RSPH9	MEFV	MACF1	MSX1	SLC12A5	PNPT1	NDUFAF6	XIAP	ZMYND10	CASR	HDAC4	RYR1	ARL6IP1	GDAP1	KCNA2	SLC24A1	ALAS2	GJB2	CHRNE	HSPG2	NMNAT1	KDM5C	MSMO1	CHKA	DMD	REL	TRIO	FBXO7	CAPN3	DOK7	DBR1	DDHD2	ICOS	PRKG2	ACP5	CTNNBL1	ABHD12	KCNT1	SETD1A	RPGR	KRT5	MARS1	RYR2	COQ6	GOSR2	SGSH	SLC30A9	PET117	ANKS6	FMR1	TPRKB	AEBP1	LIG3	EXT2	CASQ2	RMRP	DIAPH1	BICD2	LEP	PLEC	EFL1	DYNC1H1	TRRAP	FBLN5	VWA1	GYG1	LAMA2	CYP2R1	SDHB	PDE6C	COA7	ASAH1	KRT1	AICDA	CIC	UNC13D	SLC38A3	IKZF1	ERF	STXBP2	FANCB	FGG	CLIC5	IL21R	MAD2L2	PLA2G6	SLC6A1	PRPF8	ENPP1	PDE6G	ISCU	CARMIL2	FA2H	SCAPER	GHR	KRT14	TMEM63C	EPRS1	RHO	PADI3	RP1	SOX11	RAF1	INPP5K	CHM	TACSTD2	MMP14	CD19	ATP1A3	UPF3B	MAP2K2	TCF4	SERPING1	ERCC4	MS4A1	ALS2	CFTR	APCDD1	CHCHD10	FCSK	CACNG2	CEP78	RPS29	DDB1	IL6ST	THRB	SLC6A19	TMEM240	KANK2	WFS1	KERA	DAG1	TPK1	ATP6V0A4	PANK2	CRB2	CYP11B1	PI4KA	PURA	ITK	SLC39A7	COL4A1	CPT1A	MAPK8IP3	KIRREL1	IGHM	CCT5	CARD9	DSTYK	GRM6	TPM2	PDK3	DAAM2	PKHD1	SVIL	FTSJ1	CALM2	GIMAP5	ATP2A1	OCRL	BTK	TK2	ATP6AP1	PRKAG2	NDST1	KCNQ1	IMPG2	SLC4A4	KIF3B	SCN5A	ATM	APTX	DPAGT1	ABCB6	ACTC1	SMPD1	BDP1	NPHS2	CRAT	AQP5	DSP	RPE65	SLC19A3	CLPB	SLC25A19	POLR3A	FLNC	MLIP	CFB	MARCHF6	KIF14	NKX2-1	TPM1	TBX18	TBC1D2B	SH2D1A	ERCC6	G6PC1	DNAH9	WDR19	AGRN	CBLIF	AIRE	MRE11	NFU1	FOXE3	TCF3	PITRM1	PDGFRB	APRT	NDUFA6	SLC22A5	LOXL3	UQCRH	PIGM	UBAP1	CHD2	CLRN1	BTD	NLRP3	HINT1	XPC	CPT2	VHL	RHOH	MCM3AP	PPA2	CALM1	LIPN	COL9A2	PNKD	C3	PLCG2	LYRM7	CNGA3	FLVCR1	GPIHBP1	LIG1	EMD	ACO2	CLCN1	PPP3CA	HYAL1	CBS	LACC1	TRDN	HK1	SPART	CFL2	MOCOS	POLRMT	NFKB1	ACSL4	UFSP2	FGF14	IGKC	MYO5B	TGFB1	C19orf12	RAX2	HCN1	RNF170	PIK3CD	CSF1R	MYPN	HAVCR2	SLC12A6	IMPDH1	SYNE2	EXT1	ARG1	MYRF	HPRT1	TREX1	MERTK	KCNH2	KMT2B	AGTPBP1	SYNE1	RP2	DNASE1L3	PRX	ADCY3	OFD1	GLS	WDR62	FLG	PRDM12	POLR3B	PRKRA	PLEKHM1	GNS	IL36RN	F13A1	PMM2	ATP2B2	PHKA2	SAMD9	NUP133	GCDH	SPTLC2	MARS2	LRIG2	SLC16A1	TPP2	KRT74	CD46	SCN3A	CNP	KCTD17	JAG1	PIDD1	FRRS1L	DNAH11	STEAP3	OTC	VPS37A	TRAPPC10	TIAM1	STX11	GBA2	CRPPA	LMBRD1	SLC2A10	ADAMTS19	GFAP	ZNF711	GON7	INSR	GMPPB	IDS	CUBN	NR4A2	GTPBP2	LPIN1	AIFM1	PSMB8	GABRG2	ALPK3	MTHFR	KDELR2	SH3TC2	IDUA	TACO1	CCDC78	PMP22	VPS16	HYDIN	TRAPPC6B	RAC1	FGA	SLC19A2	NR0B1	PKLR	IRF7	PRNP	ADGRV1	STAT1	PUS7	RPS26	MCM6	POLR1C	ABCA4	TMPRSS3	CWF19L1	SNX14	EMC10	FHL1	IFIH1	TTN	SLC34A2	WT1	AGA	COL2A1	FGB	FOXP2	F2	MRPS7	GLRA2	COL17A1	TUBB4B	RTN4IP1	HEPACAM	DPYD	PHKB	HGSNAT	ARSK	POC1B	NUS1	DARS1	TULP3	PEPD	NUP62	BBS2	RORB	CTSD	DNAJC3	ATRX	TRIP13	NAXE	RDH12	ASPH	SGPL1	CACNA1H	SCN1A	EDARADD	MPZL2	SCN8A	ELF4	KPTN	STAT2	REEP1	TBC1D24	CACNA1I	NBEA	SEC23B	G6PD	RNF220	RIPOR2	ATP5F1D	TNFAIP3	EDAR	REST	DZIP1L	DNAJC30	KBTBD13	PDE6B	CCDC134	MAG	CYBB	NLGN3	SAMHD1	RRM2B	CDH2	SMPX	IRF2BPL	EIF2AK2	CLCN2	ALG2	GBA1	KIF12	ATR	CCDC39	ATP13A3	ECM1	NUBPL	SPATA5L1	UNG	TECRL	PEX10	SBF2	PLEKHG5	FECH	PYROXD1	CHRNA2	CHRNA4	PPCS	PLP1	TP63	HSD11B2	MTRFR	KCNN2	PLCE1	BANF1	COL10A1	IKBKB	GUCY2D	CUX2	CASK	STT3A	COL1A1	AGPAT2	NF1	NSD1	GCH1	GPR101	CXCR2	TBCE	IL17RC	CADM3	STAT3	SCN4B	SASH3	PLXNA1	CRB1	PANK4	TIMM8A	HPDL	DEF6	SH3BP2	FDXR	COA8	ZNFX1	CHP1	PROM1	ADA2	RACGAP1	PEX16	ALG10B	ATP5MC3	WNT10A	PHKG2	EMILIN1	DHX38	ANK1	SIN3A	AAAS	CAV1	COPA	SLC13A3	COPB2	STK11	TFG	PYGM	ADPRS	BAAT	CYP7B1	UNC45B	NFIX	NAXD	COL6A2	IRF8	ACADS	CPA6	HABP2
HP_APLASIA_HYPOPLASIA_OF_THE_GALLBLADDER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_GALLBLADDER	INTU	RFX6	CNOT1	CC2D2A	GATA6	SON	FOXF1
HP_FACIAL_TICS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_TICS	KCNQ3	PCDH19	KCNQ2	SCN2A	PRRT2	SCN9A	GABRG2	PNPT1	CACNA1A	GABRA1	SCN1B	SCN1A	PLA2G6	ATP1A2
HP_NASAL_REGURGITATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NASAL_REGURGITATION	SYT2	TOP3A	SLC5A7	SNAP25	SLC25A1	UBB	CHAT	COL13A1	VAMP1	MYO9A	GRHL3	AGRN	TUBB6	SLC18A3
HP_NASOGASTRIC_TUBE_FEEDING_IN_INFANCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NASOGASTRIC_TUBE_FEEDING_IN_INFANCY	GFM2	HNRNPK	TFG	KANSL1	CREBBP	MAP3K20	SATB2	CTCF	ACTA1	PUF60	TPM3	COL2A1	PDE10A	SNRPN	NALCN	GALC	PIGT	PSAP	TP63	GRM7	HACD1	IDH1	CLTCL1	UNC80	MYL2	SELENON	GPT2	DYRK1A	TPM2	ITGA7	MT-TE	TRMU	COX8A	EP300	BRAF	EDEM3
HP_GASTROSTOMY_TUBE_FEEDING_IN_INFANCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROSTOMY_TUBE_FEEDING_IN_INFANCY	DISP1	KLHL40	FGF8	TSEN2	DLL1	ITCH	FGFR1	ZIC2	STIL	SPATA5	PLCH1	UGDH	COG5	TGIF1	SPTBN4	ASPA	PIGY	MEG3	SHH	GAS1	SPG11	NODAL	GLI2	CDON	STAG2	PTCH1	SETBP1	SLC1A4	PIGV	TSEN15	PGAP1	PPP2R1A	C2CD3	KRT5	TDGF1	ALG12	SIX3	MYO1H	SPOP	RNF13	PNPT1	DLK1	COL7A1	TOR1A	PDHA1	DNM1L	TSEN34	CLCN6	PTPN23	FOXH1	PGAP2	MGAT2	SCN3A	SLC5A6	BLM	MTRFR	AFF4	DPM1	LONP1	FAT4	NRCAM	GNPTAB	PSAT1	TRIP4	UBTF	COQ2	YY1	DCHS1	SON	SPTLC1	WDR26	ALS2	TRAPPC12	PIGW	TSEN54	PRPS1	SCN1A	FUS	PGAP3	SMC1A	RTL1	TBCK	PDSS2	PIGO	PIGU	DEGS1	LRPPRC	COL2A1	BRAF	SIGMAR1	CLN8	RALGAPA1	SYNE1	FDFT1	ADNP	KRT14	TRIO	DALRD3	SEPSECS	PIGL
HP_ABNORMALITY_OF_SMALL_INTESTINAL_VILLUS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SMALL_INTESTINAL_VILLUS_MORPHOLOGY	TOM1	SKIC2	STAT1	FOXP3	MYO5B	LRBA	IL2RA	ADAM17	SPINK5	EPCAM	PCSK1	RFX5	MPI	STX3	PMM2	SYK	SKIC3	PERCC1	ALG3	ALG9	NLRC4	DEF6	UNC45A	RFXANK	RFXAP	DGAT1	CIITA	WNT2B
HP_CHILDHOOD_ONSET_SENSORINEURAL_HEARING_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHILDHOOD_ONSET_SENSORINEURAL_HEARING_IMPAIRMENT	PRG4	RIPOR2	HGF	ADCY1	ATP2B2	MARVELD2	TIMM8A	ESPN	SARDH	GIPC3	TK2	IGF1	NDE1	CDH23	GJB2	SETBP1	COCH	IARS2	GJB6
HP_PROFOUND_SENSORINEURAL_HEARING_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROFOUND_SENSORINEURAL_HEARING_IMPAIRMENT	MYO15A	SLC12A2	KCNQ1	FGF3	PMP22	KCNE1	KARS1	CIB2	PRPS1	RDX
HP_ABNORMAL_LACRIMAL_PUNCTUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LACRIMAL_PUNCTUM_MORPHOLOGY	TP63	PPP2R3C	FGF10	UBR1	FGFR3	FOXL2	FGFR2
HP_ABNORMAL_LACRIMAL_DUCT_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LACRIMAL_DUCT_MORPHOLOGY	CREBBP	FRAS1	EP300	FOXL2	SMCHD1	GRIP1	TP63	EYA1	TFAP2A	FREM1	NHP2	COL3A1	SIX5	FGFR3	SMC3	YY1	PTDSS1	TCOF1	FGF10	KNSTRN	PIK3CD	SOX6	PAX3	SIX1	SPRED2	MEGF8	KAT6A	PRR12	CD151	MED12	NOP10	TET3	FGFR2	NDUFB11	HMX1	TAF1	USB1	TRRAP	FREM2	PAX1	IGSF3	PPP1CB
HP_ABNORMAL_LACRIMAL_GLAND_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LACRIMAL_GLAND_MORPHOLOGY	FGF10	FOXL2	GJB2	BTNL2	SOX10	SLC25A24	FGFR3	FGFR2	HLA-DRB1	GJB6
HP_ANTERIOR_SYNECHIAE_OF_THE_ANTERIOR_CHAMBER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_SYNECHIAE_OF_THE_ANTERIOR_CHAMBER	PAX6	CYP1B1	FOXC1	COL18A1	FOXE3	ZEB1	VSX1	OVOL2	PXDN	ASPH	GRHL2	PITX2	COL8A2
HP_POSTERIOR_SYNECHIAE_OF_THE_ANTERIOR_CHAMBER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_SYNECHIAE_OF_THE_ANTERIOR_CHAMBER	MIR204	LRAT	ATOH7	SPATA7	CYP1B1	LCA5	HMX1	RPE65	FOXC1	FOXE3
HP_ABNORMALITY_OF_CORNEAL_THICKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CORNEAL_THICKNESS	LRAT	CERKL	CEP290	PCYT1A	IFT88	FSCN2	RP1	RGR	SPATA7	IDH3A	TULP1	FAM161A	GUCY2D	PRPF4	PRDM5	CHST6	RPGRIP1	COL3A1	SNRNP200	CNGA1	GUCA1B	AIPL1	CNGB1	ZNF469	KCNJ13	ARHGEF18	PRPF6	PRPF31	SCAPER	SEMA4A	TUB	SLC7A14	PDE6A	RDH12	PCARE	IQCB1	IMPG2	PRCD	RPE65	CFAP418	EYS	DCN	NRL	GNB5	USH2A	BBS1	ROM1	FGFR2	KERA	BBS2	REEP6	ANTXR1	PRPF3	RBP3	CA4	ARL2BP	PDE6G	ZNF513	RP1L1	RLBP1	ZNF408	MIR184	SLC4A11	PLOD1	CRB1	KIAA1549	DDR2	BEST1	GDF6	SAG	SLC2A10	IFT172	ARL3	ABCA4	IMPDH1	IMPG1	NR2F1	KLHL7	NEK2	FGFR3	RP2	PRPF8	CRX	IFT140	CLRN1	CHRDL1	RP9	LMX1B	FGF10	HGSNAT	NMNAT1	RHO	OFD1	AGBL5	PIEZO2	RD3	IDH3B	AHI1	DHX38	PRPH2	KIZ	HRAS	MERTK	PROM1	VSX1	TUBB4B	AP1B1	CDHR1	TOPORS	TTC8	PDE6B	RPGR	USP45	MAK	DHDDS	ARL6	AHR	NR2E3	POMGNT1	LCA5
HP_INCREASED_CORNEAL_THICKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CORNEAL_THICKNESS	FGF10	FGFR3	SLC4A11	DCN	FGFR2
HP_ABNORMAL_CORNEAL_ENDOTHELIUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CORNEAL_ENDOTHELIUM_MORPHOLOGY	LRAT	CYP1B1	FOXC1	LCA5	SLC4A11	RPE65	FOXE3	ZEB1	OVOL2	TCF4	AGBL1	COL8A2	PAX6	KCNJ13	SPATA7	VSX1	GRHL2	PITX2
HP_ABNORMAL_DESCEMET_MEMBRANE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DESCEMET_MEMBRANE_MORPHOLOGY	CYP1B1	FOXC1	SLC4A11	FOXE3	ZEB1	OVOL2	TCF4	AGBL1	COL8A2	PAX6	KCNJ13	VSX1	GRHL2	PITX2
HP_REDUCED_NUMBER_OF_CORNEAL_ENDOTHELIAL_CELLS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_NUMBER_OF_CORNEAL_ENDOTHELIAL_CELLS	OVOL2	COL8A2	SLC4A11	TCF4	VSX1	GRHL2	AGBL1	ZEB1
HP_ABNORMAL_CORNEAL_STROMA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CORNEAL_STROMA_MORPHOLOGY	IDUA	STS	ESCO2	LCAT	SREBF1	PAX6	KRAS	ZEB1	CHST6	OVOL2	POMGNT1	MCOLN1	ABCA1	VSX2	RIPK4	COL8A2	GNPTG	SLC29A3	RAB23	NDP	TGFBI	B4GAT1	ERCC8	DDB2	GLB1	STAT4	GNPTAB	CYP4V2	PITX3	XPA	CTNS	ERCC2	COL18A1	ALDH18A1	IL2RB	APOE	SOS2	MMP2	OCLN	IL2RA	AIRE	KERA	MBTPS2	PRDX3	PEX1	SLC4A11	LIPC	LZTR1	JAG1	TRPV3	ERCC3	VSX1	NOD2	PPP1R17	FOXC1	ERCC4	SLC4A4	GHR	LIFR	UBIAD1	PSMB8	CHRDL1	PEX5	APOA1	GBA1	GNAS	TEK	XPC	LDLR	PTPN22	PITX2	PTPN2	CD247	WDR73	EPHX2	FOXE3	KRT12	NTRK1	NAGA	GALNS	ERCC6	CTSA	WT1	APOB	PCSK9	CYP1B1	NLRP3	APOA2	PEX2	ABCG8	TRAPPC2	FLG	ERCC5	ASAH1	SMARCAL1	SC5D	GRHL2	ANKRD55
HP_CENTRAL_OPACIFICATION_OF_THE_CORNEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_OPACIFICATION_OF_THE_CORNEA	COL18A1	PTPN2	PAX6	CYP1B1	CD247	FOXC1	TGFBI	GNAS	IL2RB	FOXE3	SLC4A4	VSX1	STAT4	JAG1	OVOL2	IL2RA	PTPN22	ANKRD55	NOD2	PITX2
HP_ABNORMAL_CORNEAL_EPITHELIUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CORNEAL_EPITHELIUM_MORPHOLOGY	NOD2	COL4A5	ERCC3	WIPF1	HLCS	TWIST2	IARS2	SREBF1	IKBKG	PAX6	GJB2	SLC39A4	NGLY1	PRDM5	CHST6	IL10	FGFR2	UROD	RIPK4	ERCC2	PERCC1	HLA-B	ALOX12B	TLR4	TGFBI	DDB2	PLEC	AEBP1	ERCC6	C4A	IL12A	XPA	CTNS	COL7A1	STAT4	PNPLA1	IL23R	TARS1	MEFV	MPLKIP	NIPAL4	PRDM12	SLC35C1	NLRP1	COL17A1	MBTPS2	HLA-DRB1	FOXC2	LBR	POLH	COL4A6	GATA1	ZMPSTE24	CARS1	UROS	EPCAM	GTF2H5	KRT3	ERAP1	GJB6	FBN1	KIFBP	FERMT1	COL4A4	SCN9A	ERCC4	RNF113A	MMP1	SPINT2	TP63	CCR1	FGFR3	PLCG2	ALDH3A2	COL4A3	NTRK1	ERCC8	FGF10	IFNGR1	IL6ST	IKZF1	ABCA12	MPV17	RNF125	KLRC4	XPC	AIRE	WAS	GTF2E2	ALOXE3	CERS3	CRLF1	ZNF469	MAB21L1	TAT	WT1	ELP1	UBAC2	MTTP	CLTCL1	NLRP3	ZEB1	BTNL2	GSN	TGM1	IL12A-AS1	ERCC5	LMNA	FAS
HP_CORNEAL_NEOVASCULARIZATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORNEAL_NEOVASCULARIZATION	PAX6	DDR2	CYP1B1	SEC24C	SREBF1	GP1BB	ARVCF	GJB2	JMJD1C	NGLY1	FGFR3	NLRP1	WT1	ERCC2	RREB1	FGFR2	MBTPS2	HIRA	FGF10	TBX1	COL4A1	COMT	UFD1	GJB6
HP_MYDRIASIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYDRIASIS	SLC1A3	MYL9	GNA11	SF3B1	TMEM53	ATP1A3	BAP1	CYSLTR2	MYH11	ACTA2	GNAQ	ATP1A2	PEX10	CACNA1A	LOXL1	OSTM1
HP_BULL_S_EYE_MACULOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BULL_S_EYE_MACULOPATHY	RIMS1	CLN3	PROM1	MAK	ABCA4	TLCD3B	RP2	VPS13B	IMPDH1	RAX2	MFSD8	TMCO1
HP_CYSTOID_MACULAR_EDEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CYSTOID_MACULAR_EDEMA	PDE6G	CYP4V2	KLHL7	MFRP	IDH3A	ARHGEF18	ARL3	POMGNT1	PRPH2	KIAA1549	RHO	REEP6	HLA-A	DHDDS	RLBP1	RP1L1	NOD2	PRPF8	RDH5
HP_CHOROIDAL_NEOVASCULARIZATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOROIDAL_NEOVASCULARIZATION	ABCC6	EFEMP1	PRPH2	HMCN1	C1QTNF5	CLCN2	CFI	FBLN1	HLA-A	FBN2	APOE	FBLN5	XYLT2	CFH	AGXT	CFHR3	ENPP1	XYLT1	MAPKAPK3	CFHR1	CLEC3B	TIMP3
HP_MACULAR_HYPERPIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_HYPERPIGMENTATION	CFH	ADAR	CFI	EFEMP1	CRX	PAX2
HP_DRUSEN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DRUSEN	TMEM98	LRAT	CFH	LCA5	CTNNA1	ALMS1	EFEMP1	RPE65	PRPH2	HMCN1	GUCY2D	C1QTNF5	CFI	PRPF8	APOE	FBLN5	MFRP	IFT172	ESPN	ABCC6	XYLT2	IMPG1	SPATA7	GUCA1A	CFHR3	XYLT1	CFHR1
HP_HYPERPIGMENTATION_OF_THE_FUNDUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPIGMENTATION_OF_THE_FUNDUS	APC	POU3F4	EFEMP1	MUTYH	CFH	CFI	CAPN5
HP_ACHROMATOPSIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACHROMATOPSIA	GNAT2	CNGA3	NBAS	CNGB3	ATF6
HP_ANOMALOUS_TRICHROMACY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANOMALOUS_TRICHROMACY	OPA3	C1QTNF5	POC1B	OPA1	OPN1MW	OPN1LW	DNM1L	OPN1SW	GUCY2D	NR2E3
HP_ABNORMALITY_OF_LENS_SHAPE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_LENS_SHAPE	OCRL	COL4A5	LTBP2	ERCC8	COL4A4	FBN1	ERCC6	ASPH	PRPH2	COL4A3	RHO	ADAMTS10	LAMB2	RLBP1	RDH5	COL4A6
HP_RETINAL_HOLE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_HOLE	CTNNB1	LRP5	FZD4	COL2A1	NDP
HP_VITRITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VITRITIS	HCCS	HLA-A	COX7B	NDUFB11	RB1
HP_ABNORMAL_ATRIAL_ARRANGEMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ATRIAL_ARRANGEMENT	DNAH9	ZMYND10	CFC1	SPAG1	DNAJB13	TTC12	DNAAF11	LRRC56	RPGR	DNAI1	GAS8	DNAH11	CFAP221	DNAAF4	OFD1	RSPH4A	RSPH3	NEK10	DNAL1	HYDIN	STK36	SPEF2	CFAP298	ODAD4	RSPH1	CFAP300	CCDC103	GDF1	MCIDAS	CCNO	RSPH9	GAS2L2	DNAAF2	CCDC65	DNAAF3	DNAAF6	ZIC3	DNAAF5	DNAAF1	ODAD3	FOXJ1	CCDC40	NME8	PKD1L1	DRC1	CCDC39	ODAD1	NODAL	ODAD2	DNAI2	DNAH1	DNAH5
HP_ABNORMAL_CONNECTION_OF_THE_CARDIAC_SEGMENTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CONNECTION_OF_THE_CARDIAC_SEGMENTS	PIGN	EOGT	TBX1	PLXND1	DNAJB13	MKKS	SEMA3E	FANCB	VPS37D	TGIF1	UBE2T	QRICH1	GPC4	GJA1	LMNA	CASZ1	GDF1	DDX59	FKTN	SUFU	DNAAF4	RSPH3	IPO8	NKX2-5	GATA5	SMARCB1	WASHC5	TUBG1	PLCH1	CHRM3	STK36	EHMT1	GATA4	SPEN	ODAD4	METTL27	PIGL	LRRC56	DLL4	CFAP300	MEGF8	SKI	HSPG2	ARID1B	COX7B	NKX2-6	MYRF	ATP2B1	GP1BB	DISP1	SMARCA4	CCDC65	ZIC3	HLA-DRB1	GTF2IRD1	ZEB2	ZMPSTE24	DOCK6	RREB1	PEX19	MMP21	NODAL	TMEM94	BMP2	RBM10	CHD4	FOXJ1	FOXC2	NME8	DGCR6	PKD1L1	CACNA1C	JAG1	CFAP53	WT1	HIBCH	PALB2	ODAD2	RPL11	DNAH1	DNAH5	CITED2	CFC1	BCL7B	SPAG1	MLXIPL	BRCA2	NADSYN1	ACVR2B	NOTCH1	MAPKAPK5	SPECC1L	NCF1	NIPA1	DNAH11	CFAP221	RSPH4A	NEK10	PRDM16	LUZP1	HYDIN	ARHGAP31	GATA6	FKBP6	SPEF2	CFAP298	RSPH1	RAD51C	RFC2	NOTCH2	FANCD2	TBL2	GATA1	SKIC3	RPL5	ARID1A	CHUK	TAB2	MCIDAS	RSPH9	RRAS2	PDPN	MAD2L2	SHH	GTF2I	GAS2L2	CHD7	DNAAF2	FANCA	FANCI	MMP14	MED13L	KCNAB2	GJA5	DNAAF5	PTCH1	DDX11	ATP6V1B2	SMARCC2	CLIP2	BRIP1	SLC37A4	FIG4	PHGDH	FOXF1	BICRA	PQBP1	STRA6	DLL1	RFWD3	FGF8	XRCC2	SMARCD1	ROR2	STX1A	ZMYND10	DNAJC30	TBC1D24	ESS2	TBX2	DGCR2	RERE	GABRD	SRCAP	SMG9	GAS8	GNB2	OFD1	HIRA	STAG2	BRAF	RAB23	DNAL1	FLT4	SALL4	SLC35A2	PRKCZ	INTU	PLD1	FGFR1	SOX4	SALL1	ZIC2	RBM8A	GLI2	BRCA1	SKIC2	ZFPM2	ARVCF	DGCR8	RBPJ	DNAAF3	ALX1	FANCF	NIPA2	SF3B2	SIX3	RAI1	DNAAF1	ODAD3	PAH	PTPN22	BUD23	CCDC40	RAD21	MMP2	SF3B4	MMP23B	VAC14	COMT	BAZ1B	DNAI2	ELN	DNAH9	CCDC22	ARID2	CDK8	SH3PXD2B	SEC24C	TTC12	TRAF7	DNAAF11	UBE2A	FANCM	TDGF1	RPGR	SLX4	DNAI1	UBE4B	FOXH1	BCOR	EIF4H	GTF2IRD2	LIMK1	ERCC4	FANCL	MCTP2	DPF2	KDR	NXN	CDON	GJA8	GPC3	SMARCE1	SOX11	ZNF462	CCDC103	ALX3	TMEM270	CCNO	NR2F2	JMJD1C	DNAAF6	CXCR4	OTUD5	GAS1	FANCE	PUF60	RNU4ATAC	HLA-B	FANCG	CIROP	SMAD2	P4HA2	DRC1	CCNQ	RAD51	CCDC39	DACT1	ODAD1	UFD1	EIF2AK3	FANCC	TMEM260
HP_ABNORMAL_ATRIOVENTRICULAR_CONNECTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ATRIOVENTRICULAR_CONNECTION	MMP21	GNB2	NOTCH1	NKX2-5	MCTP2	MAPKAPK5	CCNQ	ZIC3	PLD1	NODAL	GJA1	CIROP
HP_MITRAL_ATRESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MITRAL_ATRESIA	MMP21	GNB2	CCNQ	NOTCH1	ZIC3	GJA1	NKX2-5	MCTP2
HP_COMMON_ATRIUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMMON_ATRIUM	TTC26	MMP21	CFAP53	GDF1	PRKACB	EVC	ZIC3	EVC2	ACVR2B	WT1	CIROP
HP_UNBALANCED_ATRIOVENTRICULAR_CANAL_DEFECT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNBALANCED_ATRIOVENTRICULAR_CANAL_DEFECT	TTC26	SMAD2	CFAP53	DNAH9	PKD1L1
HP_ABNORMAL_BRANCHING_PATTERN_OF_THE_AORTIC_ARCH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BRANCHING_PATTERN_OF_THE_AORTIC_ARCH	CREBBP	PLXND1	EP300	ESS2	DGCR2	DNAH1	ACVR2B	DGCR8	CHD7	PIK3R2	SF3B2	GDF1	CIROP	WDR26	TTC26	MMP21	TBX1	IPO8	DGCR6	FLT4	PKD1L1	WT1	STRA6	NKX2-6	CFAP53	DNAH9	PLD1	GBA1	CRELD1	TMEM260
HP_DOUBLE_AORTIC_ARCH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DOUBLE_AORTIC_ARCH	TBX1	ESS2	DGCR6	DGCR2	FLT4	GBA1	DGCR8	CIROP
HP_CONGENITAL_MALFORMATION_OF_THE_GREAT_ARTERIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_MALFORMATION_OF_THE_GREAT_ARTERIES	PIGN	EOGT	CHRM3	MKKS	SEMA3E	FANCB	VPS37D	ABCD4	TBX1	CTCF	ARSL	FOXE3	UBE2T	GPC4	RIT1	GJA1	KYNU	TMTC3	ZNF699	CASZ1	MYOCD	FKTN	MEGF8	RSPH3	IPO8	GATA5	SMARCB1	WASHC5	TUBG1	PTPN11	SETD2	STK36	EHMT1	TGFB2	GATA4	PIGL	LRRC56	CFAP300	COL18A1	DHCR7	HSPG2	GLB1	COX7B	ATP2B1	GLI3	GP1BB	MAT2A	DISP1	SMARCA4	CCDC65	ARFGEF2	KCNN3	ZIC3	FBN1	ZEB2	TGFBR2	WAC	ZMPSTE24	DOCK6	RREB1	KAT6A	MMP21	BMP2	RBM10	FLNA	IGBP1	CD96	ARID1B	MYH11	VPS33A	DPM1	WT1	PALB2	ADAMTS10	DNAH1	DNAH5	ALG12	CREBBP	CFC1	LZTR1	SPAG1	MLXIPL	BRCA2	ASXL2	JAG1	NADSYN1	LOX	NOTCH1	PLCB3	NIPA1	PSMD12	FGFR3	AGO2	TGFBR1	CFAP221	NEK8	TFAP2B	FGF10	GDF1	PRDM16	PACS1	MKS1	NKX2-5	GATA6	C2CD3	FKBP6	NPHP3	HDAC4	RAD51C	NCAPG2	SKIC3	APC2	RPL5	HEY2	ARID1A	TAB2	MCIDAS	TRIO	FANCF	PDPN	MAD2L2	CDC42	GAS2L2	CHD7	FANCA	MMP14	MED13L	GJA5	DNAAF5	PRDM13	ANKS6	ARX	ATP6V1B2	CLIP2	BRIP1	SUPT16H	SLC37A4	FIG4	FOXF1	KANSL1	DHCR24	TRRAP	CEP120	ARF1	RFWD3	SMARCD1	MID1	ROR2	ZNF148	PPP1CB	FTO	GNA11	TBX5	PCGF2	AMMECR1	MYCN	KRAS	CSGALNACT1	PAK2	NAA20	GABRD	STXBP1	GAS8	COA6	GNB2	OFD1	SLC25A24	BRAF	UBR7	ABCC9	POLR1D	PRDM6	TCOF1	INTU	FGFR1	SALL1	ZIC2	SAMD9	BRCA1	RAC1	NSD1	ZFPM2	FOXC1	DGCR8	DNMT3A	RBPJ	ARHGAP31	MAP1B	FLT4	NIPA2	SIX3	DNAAF1	ODAD3	PAH	PTPN22	B3GLCT	UMPS	WDR37	PIGT	CCDC22	MGAT2	MMP23B	CTU2	POLR1A	VAC14	COMT	BAZ1B	DNAI2	BPTF	AFF4	ELN	DVL3	CDK8	EP300	ZMIZ1	SEC24C	TTC12	TRAF7	XRCC2	NOTCH2	ACTB	RPGR	SMAD3	SON	DNAI1	FOXH1	EIF4H	LARS2	NAA10	ERCC4	MCTP2	MFAP5	DYRK1A	KDR	NXN	DNAH9	GJA8	ERMARD	SLC29A3	SMARCE1	SOX11	ZNF462	CCDC103	COQ4	HYMAI	CCNO	KCNH1	EZH2	PRKG1	NR2F2	MASP1	DNAAF6	NONO	MYH7	PUF60	KCNE5	HLA-B	SMAD2	THOC6	SNRPB	ACSL4	ASCC1	P4HA2	POGZ	TBX4	AMER1	CCDC39	SHANK3	RSPRY1	DACT1	EIF2AK3	FANCC	TMEM260	ADAT3	PLXND1	DNAJB13	HACD1	TGIF1	GLYCTK	QRICH1	LMNA	DDX59	SUFU	DNAAF4	POLR1C	FANCD2	PLCH1	BCOR	DTNA	IGF2	SPEN	TRIP4	ODAD4	ECE1	METTL27	DLL4	SKI	ACTA2	NKX2-6	MYRF	SIK3	HLA-DRB1	RBP4	GTF2IRD1	OCLN	G6PC3	PEX19	NODAL	TRIP11	SMARCA2	TP63	TMEM94	CHD4	PEX1	FOXJ1	FOXC2	NME8	DGCR6	PKD1L1	CACNA1C	SNX14	CFAP53	FBN2	HIBCH	ODAD2	RPL11	CITED2	RAB23	BCL7B	LMBRD1	NOTCH3	WDPCP	ACVR2B	MAPKAPK5	SPECC1L	NCF1	TKT	CRKL	DNAH11	EXT2	RSPH4A	NEK10	RERE	LUZP1	HYDIN	SPEF2	CFAP298	RSPH1	SMAD4	EED	MRPS16	RFC2	KAT6B	TBL2	GATA1	TMCO1	PORCN	PPFIBP1	CHUK	RSPH9	RRAS2	RPS26	SHH	GTF2I	DNAAF2	MED12	FANCI	YY1AP1	KCNAB2	PTCH1	DDX11	SMARCC2	ZMYM2	ALDH1A2	PHGDH	BICRA	MAPK1	PQBP1	STRA6	DLL1	FGF8	MAF	STX1A	ZMYND10	DNAJC30	TBC1D24	ESCO2	FKBP14	ESS2	TBX2	DGCR2	CDC42BPB	NEDD4L	PLAGL1	PCNT	BCR	HTRA2	SNRPN	SRCAP	SMG9	BMPR1A	MYLK	TSFM	KAT8	HIRA	STAG2	DNAL1	SALL4	SLC35A2	PRKCZ	LMX1B	SOX4	SUCLG1	RBM8A	GLI2	SKIC2	SOX2	ARVCF	FOCAD	ITPR1	DNAAF3	ALX1	KCNJ8	ZBTB7A	PRIM1	AGGF1	SF3B2	RAI1	FGFR2	COG6	POLR1B	BUD23	NFIX	PTEN	CCDC40	RAD21	MMP2	SF3B4	KMT2B	TWIST1	ARL6IP6	MAP2K1	ARID2	TGFB3	SH3PXD2B	DYNC2LI1	DNAAF11	SIX6	UBE2A	FANCM	TDGF1	DMPK	SMC3	CADM3	SLX4	UBE4B	ALG8	TTC26	PIGA	GTF2IRD2	LIMK1	FANCL	USP9X	ANK1	DPF2	CDON	HPGD	GPC3	WDR35	SSR4	ALX3	TMEM270	WLS	JMJD1C	CXCR4	OTUD5	GAS1	FANCE	RNU4ATAC	FANCG	CIROP	ALB	USP18	CALM3	DRC1	RAD51	ODAD1	UFD1	MAP3K7	TALDO1
HP_INTERRUPTED_AORTIC_ARCH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERRUPTED_AORTIC_ARCH	MMP21	CHD7	TBX1	PLXND1	MYCN	SEMA3E	ESS2	MYRF	DGCR6	DGCR2	GATA6	DGCR8	FGFR1	KRAS	FOXF1	DIS3L2	NKX2-6	SMG9	SUCLG1	TMEM260
HP_ABNORMALITY_OF_ABDOMINAL_SITUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_ABDOMINAL_SITUS	CFC1	CFAP52	GDF1	CPLX1	FOXJ1	PKD1L1	ACTG2	NELFA	CFAP53	CTBP1	ZIC3	PIGG	LETM1	NODAL	CIROP	NSD2	CCDC32
HP_MUSCULAR_VENTRICULAR_SEPTAL_DEFECT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCULAR_VENTRICULAR_SEPTAL_DEFECT	GNB2	SVBP	THOC6	MAP3K7	ATP6V0A2	GJA5	PSMC1	RPL3L	NSD1	NUP188	GATA6	DNAJC19	PLD1	GJA8	WBP11	MYCN	RNU4ATAC	DPH2	DPH5	ALG12	MYBPC3
HP_ABNORMAL_CORONARY_ARTERY_ORIGIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CORONARY_ARTERY_ORIGIN	NKX2-6	PLXND1	LZTR1	NADSYN1	CIROP
HP_TRICUSPID_ATRESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRICUSPID_ATRESIA	HIRA	TBX1	MYCN	SEC24C	GP1BB	ARVCF	JMJD1C	COMT	PLD1	UFD1	RREB1	TMEM260
HP_RIGHT_VENTRICULAR_CARDIOMYOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIGHT_VENTRICULAR_CARDIOMYOPATHY	PKP2	DSP	JUP	DSG2	TMEM43	RYR2	TGFB3	DSC2
HP_LEFT_VENTRICULAR_NONCOMPACTION_CARDIOMYOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEFT_VENTRICULAR_NONCOMPACTION_CARDIOMYOPATHY	NONO	MIB1	RYR2	TPM1	MYL2	MLYCD	DTNA	MYOCD
HP_LEFT_SUPERIOR_VENA_CAVA_DRAINING_TO_CORONARY_SINUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEFT_SUPERIOR_VENA_CAVA_DRAINING_TO_CORONARY_SINUS	PRKACB	ZIC3	SLC29A3	MED25	CIROP
HP_CARDIAC_MYXOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIAC_MYXOMA	PRKAR1A	PRKACA	PDE11A	MYH8	PDE8B
HP_PERIMEMBRANOUS_VENTRICULAR_SEPTAL_DEFECT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIMEMBRANOUS_VENTRICULAR_SEPTAL_DEFECT	ALG8	CREBBP	THOC6	NAA10	SEC31A	NDUFC2	BMP2	RAD21	EP300	CITED2	MEIS2	GATA6	CALM3	ATRX	GJA5	NDUFB7	MYH7	NUP188	GJA8	PUF60
HP_AV_NODAL_TACHYCARDIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AV_NODAL_TACHYCARDIA	CITED2	MT-CYB	NDUFB11	COX7B	HCCS
HP_CEREBELLAR_HEMORRHAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBELLAR_HEMORRHAGE	MMUT	APP	PCCA	PCCB	IVD	ACAD9
HP_ABNORMAL_ELECTROPHYSIOLOGY_OF_SINOATRIAL_NODE_ORIGIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ELECTROPHYSIOLOGY_OF_SINOATRIAL_NODE_ORIGIN	MYPN	SDHB	ARSB	LMNA	GAA	PKP2	VHL	CAV3	CALM2	TMEM127	MDH2	AKAP9	TPM2	DNMT3A	ANK2	RET	GNB2	SCN2B	HCN4	MYO1H	NOS1AP	SCN10A	SEMA3A	FH	SDHC	PEX5	SCN3B	SLC25A11	TNNT2	EPAS1	GNB5	NPPA	KIF1B	CALM3	MAX	SLMAP	CACNB2	KCNA5	KCNQ1	BANF1	CASQ2	SCN5A	TRPM4	KCNE1	RANGRF	MYH7	PRKAG2	CALM1	CACNA1C	CACNA2D1	KCND3	TNNI3K	KCNE5	KCNE2	BVES	SCN4B	KCNE3	NF1	SDHD	SGO1	SNTA1	SCN1B	MYH6	GPD1L	TBX5	TRDN	SCNN1A	RYR2	ABCC9	KCNJ8	SDHA	HEPHL1	RYR1	TPM3	KCNH2	ABCC6	KCNJ5	DLST	SDHAF2
HP_SINUS_TACHYCARDIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SINUS_TACHYCARDIA	MYPN	NF1	SDHB	MYH7	ARSB	SDHD	FH	SDHC	GAA	PEX5	VHL	SLC25A11	EPAS1	TMEM127	KIF1B	MAX	MDH2	TPM2	DNMT3A	SDHA	RYR1	TPM3	ABCC6	RET	DLST	SDHAF2	BANF1
HP_SICK_SINUS_SYNDROME	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SICK_SINUS_SYNDROME	SCN10A	SCN5A	TRPM4	GNB5	RANGRF	SGO1	SCN1B	SEMA3A	MYH6	GPD1L	PKP2	SCN3B	HCN4	SCNN1A	RYR2	CACNA2D1	NPPA	ABCC9	KCND3	AKAP9	KCNE5	KCNJ8	SLMAP	KCNE3	CACNB2	SCN2B	CACNA1C	TRDN	CASQ2
HP_FIRST_DEGREE_ATRIOVENTRICULAR_BLOCK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FIRST_DEGREE_ATRIOVENTRICULAR_BLOCK	SCN10A	TBX20	TRPM4	RANGRF	GJA1	GJA5	LMNA	TLL1	GATA6	KCNK3	GPD1L	PKP2	SCN5A	MYH6	CITED2	MYL4	DMPK	CACNA2D1	KCND3	AKAP9	KCNE5	MYPN	NKX2-5	DTNA	PSEN1	ACTC1	KCNE3	SCN2B	HCN4	DOHH	CTNNA3	SCN1B	SEMA3A	PSEN2	SCN3B	TBX5	SCNN1A	ABCC9	KCNJ8	SLMAP	CACNB2	GATA4	EMD	CACNA1C	MYBPC3
HP_SECOND_DEGREE_ATRIOVENTRICULAR_BLOCK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SECOND_DEGREE_ATRIOVENTRICULAR_BLOCK	CALM2	SCN5A	CDC45	CACNA1D	LMNA	CALM3	BVES	KCNJ18	CACNA1S	CALM1	GABRA3	NPPA
HP_BUNDLE_BRANCH_BLOCK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BUNDLE_BRANCH_BLOCK	SCN10A	SCN5A	TRPM4	CDH2	TBX20	RANGRF	MYH7	TLL1	GATA6	PRKAG2	GPC4	KCNK3	GPD1L	PKP2	MYOZ2	MYH6	CITED2	DMPK	JUP	TNNC1	CACNA2D1	KCND3	FLNC	TNNI3K	DSG2	PLEC	PTPN11	AKAP9	KCNE5	LDB3	DYSF	NKX2-5	PSEN1	ACTC1	KCNE3	SCN2B	BRAF	HCN4	TNNT2	PIGU	LMOD2	CTNNA3	POMT2	GLA	SCN1B	SEMA3A	RAF1	PSEN2	SCN3B	CNBP	ATP6V1E1	GYG1	ATP6V1A	SCNN1A	RNASEH1	GPC3	LMNA	NPPA	ABCC9	MYL2	KCNJ8	GNAI2	LEMD2	SLMAP	CACNB2	GATA4	EXOSC5	MT-CYB	CACNA1C	MYBPC3	BANF1	PPP1CB
HP_LEFT_ANTERIOR_FASCICULAR_BLOCK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEFT_ANTERIOR_FASCICULAR_BLOCK	FLNC	SCN5A	MYH7	TRPM4	TNNI3K	ACTC1	TNNC1	LMNA
HP_RIGHT_BUNDLE_BRANCH_BLOCK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIGHT_BUNDLE_BRANCH_BLOCK	SCN10A	SCN5A	TRPM4	RANGRF	MYH7	KCNK3	GPD1L	PKP2	JUP	TNNC1	CACNA2D1	KCND3	TNNI3K	TLL1	DSG2	PLEC	AKAP9	KCNE5	DYSF	KCNE3	SCN2B	HCN4	TNNT2	PIGU	LMOD2	POMT2	SCN1B	SEMA3A	SCN3B	CNBP	ATP6V1E1	GYG1	ATP6V1A	SCNN1A	RNASEH1	NPPA	ABCC9	MYH6	KCNJ8	GNAI2	LEMD2	SLMAP	ACTC1	CITED2	CACNB2	EXOSC5	MT-CYB	CACNA1C	MYBPC3	BANF1	PPP1CB
HP_LEFT_BUNDLE_BRANCH_BLOCK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEFT_BUNDLE_BRANCH_BLOCK	FLNC	CDH2	TRPM4	TNNI3K	CTNNA3	MYL2	LDB3	PRKAG2	SCN5A	DSG2	MYH7	PSEN2	PSEN1	MYOZ2	ACTC1	TNNC1	MYBPC3	LMNA
HP_ABNORMALITY_OF_THE_PULMONARY_VEINS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PULMONARY_VEINS	CDC42	DNAH9	ZMYND10	SPAG1	DNAJB13	TTC12	DLL3	ACVR2B	DNAAF11	HES7	FOXF1	NIPA1	LRRC56	RPGR	GPC4	SFTPB	DNAI1	GAS8	GDF1	DNAH11	CFAP221	DNAAF4	B3GLCT	OFD1	RSPH4A	RSPH3	NEK10	SMC1A	DNAL1	TUBG1	HYDIN	WT1	STK36	SPEF2	CFAP298	ODAD4	RSPH1	EIF2AK4	GPC3	CFAP300	LFNG	GATA1	CCDC103	MCIDAS	CCNO	RSPH9	MYRF	GAS2L2	DNAAF2	CCDC65	MED12	RSPO2	DNAAF3	RIPPLY2	TBX5	DNAAF6	ZIC3	AFF4	DNAAF5	NIPA2	DHCR24	CIROP	CITED2	SMAD2	MMP21	DNAAF1	ODAD3	BMPR2	CRTAP	FOXJ1	CCDC40	NME8	DRC1	MESP2	CFAP53	CCDC39	ODAD1	NODAL	ODAD2	DNAI2	DNAH1	DNAH5	RPS15A	TMEM260
HP_CONGENITAL_MALFORMATION_OF_THE_RIGHT_HEART	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_MALFORMATION_OF_THE_RIGHT_HEART	DNAH9	DVL3	ZMYND10	CFC1	TBC1D24	TBX1	SPAG1	SH3PXD2B	DNAJB13	TBX2	NADSYN1	TTC12	TRAF7	DNAAF11	UBE2A	LRRC56	NKX2-5	RPGR	DNAI1	GAS8	BCOR	GDF1	DNAH11	CFAP221	DNAAF4	GNB2	OFD1	RSPH4A	RSPH3	IPO8	STAG2	NOTCH1	NEK10	GATA5	WASHC5	DNAL1	PLCH1	HYDIN	MCTP2	STK36	SPEF2	CFAP298	ODAD4	RSPH1	GATA6	CFAP300	GATA1	CCDC103	MCIDAS	CCNO	RSPH9	GAS2L2	CHD7	DNAAF2	CCDC65	DNAAF3	MMP14	DNAAF6	ZIC3	OTUD5	HLA-DRB1	ATP6V1A	DNAAF5	HLA-B	RAI1	NKX2-6	CIROP	PEX19	SMAD2	DNAAF1	ATP6V1B2	ODAD3	PAH	PTPN22	TMEM94	P4HA2	FOXJ1	CCDC40	NME8	PKD1L1	MMP2	CTU2	DRC1	CFAP53	CCDC39	ODAD1	NODAL	EIF2AK3	ODAD2	DNAI2	DNAH1	DNAH5
HP_PERONEAL_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERONEAL_MUSCLE_WEAKNESS	TRPV4	GYG1	PMP22	REEP1	SARDH	GDAP1	LMNA
HP_ABNORMAL_CENTRAL_SENSORY_FUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CENTRAL_SENSORY_FUNCTION	PIK3CA	BAP1	TERT	SMARCB1	NF2	SMARCE1	AKT1	ATP6AP2	PDGFB	PRNP	SMO	TRAF7	SUFU	ABCD1
HP_ABNORMALITY_OF_ADRENAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_ADRENAL_MORPHOLOGY	CDKN1C	NR3C1	CYP11B1	TBC1D24	PLXND1	CYP11A1	SDHB	CACNA1S	ABCC6	VHL	ZNRF3	PRKAR1A	APC	LIPA	LTBP4	POLE	HYLS1	LMNA	TMEM127	TERT	WDR11	LHX4	HSD3B2	BMP4	MDH2	PDE8B	WASHC5	DNMT3A	CYP17A1	TBX19	GLI3	HESX1	ABCD1	CDKN1B	PROKR2	RET	CYP11B2	WNT3	TP53	PDE11A	POR	TBC1D7	ADH5	FH	BRAF	SDHC	KCNJ5	GK	SLC25A11	EPAS1	KCNE3	MEN1	ZMPSTE24	GPR161	MDM2	AIRE	KIF1B	MAX	PEX1	CDKN2A	CDKN2B	CTNNB1	SIX3	MTHFR	VANGL2	CCDC22	SCN4A	TNXB	CACNA1D	ARMC5	STAR	ATRX	PRKACA	WNT4	USP8	CDON	CHEK2	MKS1	GNAS	NKX2-6	NR0B1	YY1	CDKN1A	CCND1	SDHD	NF1	IGF2	NSDHL	POMC	CDH23	ATP6V1B2	CILK1	USP48	IDH1	ROBO1	KCNQ1OT1	PTEN	SDHA	CDKN2C	KCNQ1	IDH2	ENPP1	DLST	SDHAF2	CLCN2	CYP21A2
HP_ABNORMALITY_OF_ADRENAL_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_ADRENAL_PHYSIOLOGY	NR3C1	CYP11B1	CYP11A1	SMARCE1	IARS2	GATB	SNRPN	ZNRF3	PRKAR1A	CLCNKB	LIPA	MKRN3	PEX3	NR5A1	CYP11B2	KCNJ5	TERT	SCNN1G	ZFPM2	PROP1	RBM28	CDKN1B	PEX5	CLCNKA	MAGEL2	TP53	POMC	QRSL1	STEAP3	PEX10	AAAS	TCTN3	CUL3	GLI3	GNAS	SRY	SMO	BSND	LHX4	WWOX	NDUFAF5	AIP	KCNJ1	PDGFB	CDKN2B	PEX6	WNK4	HTR1A	CDH23	HSD11B2	ARMC5	HSD17B4	PEX19	USP8	ABCD1	NFKB2	BAP1	CTNNB1	WT1	AKT1	TXNRD2	BRAF	PEX1	SLC12A1	KLHL3	NR0B1	PEX13	NF2	MC2R	HBB	CLCN2	MCM4	PEX12	SAA1	HERC2	NNT	SERPINA6	MRPS7	PEX11B	USP48	SOX9	CDKN2C	CYP17A1	NDN	SLC26A3	PEX16	OCA2	NPAP1	DMRT3	SNORD115-1	WNK1	KCNJ10	NR3C2	SGPL1	CACNA1H	PWRN1	SCNN1A	PIK3CA	KCNJ11	SMARCB1	PDE8B	SNORD116-1	TBX19	PWAR1	MRAP	VAMP7	DHX37	SAMD9	RET	PDE11A	POR	GATA4	GK	INSR	GATC	AIRE	KCNJ16	SCNN1B	STAR	NFS1	PEX2	HSD3B2	MAP3K1	TRAPPC11	MRPS25	MEN1	CACNA1D	PEX14	ATRX	KCNJ2	PRKACA	TRAF7	SUFU	KANSL1	BCOR	PEX26	CDKN2A	CDKN1A	OCRL	PCSK1	GMPPA	TBCK	SLC12A3
HP_CENTRAL_ADRENAL_INSUFFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_ADRENAL_INSUFFICIENCY	MAGEL2	POMC	RBM28	SNRPN	CDH23	IARS2	GLI3	MEN1	AAAS	OCA2	NFKB2	AIP	PCSK1	NDN	CTNNB1	BRAF	TBX19	TBCK
HP_ADRENOCORTICOTROPIN_DEFICIENT_ADRENAL_INSUFFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADRENOCORTICOTROPIN_DEFICIENT_ADRENAL_INSUFFICIENCY	RBM28	CDH23	MEN1	NFKB2	TBX19	AIP
HP_PRIMARY_HYPERALDOSTERONISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMARY_HYPERALDOSTERONISM	KCNJ5	CYP11B1	SCNN1B	SCNN1G	CLCNKB	CACNA1D	SCNN1A	CLCN2	CYP11B2	SLC12A3
HP_GLUCOCORTOCOID_INSENSITIVE_PRIMARY_HYPERALDOSTERONISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLUCOCORTOCOID_INSENSITIVE_PRIMARY_HYPERALDOSTERONISM	KCNJ5	SCNN1B	SCNN1G	SCNN1A	CLCN2
HP_ADRENOCORTICOTROPIC_HORMONE_DEFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADRENOCORTICOTROPIC_HORMONE_DEFICIENCY	TBX19	TERT	TP53	CDH23	GLI3	MEN1	CDKN2A	ZNRF3	CTNNB1	PRKAR1A	LHX3	POMC	AIP
HP_ADRENOCORTICOTROPIC_HORMONE_EXCESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADRENOCORTICOTROPIC_HORMONE_EXCESS	CYP11A1	CYP17A1	ABCD1	HSD3B2	MCM4
HP_ABNORMALITY_OF_THE_POSTERIOR_PITUITARY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_POSTERIOR_PITUITARY	ZIC2	FGF8	SHH	SMARCE1	DLL1	POU1F1	KIAA0753	OTX2	ADGRG1	FOXH1	HESX1	SRPX2	ERF	CDON	TRAF7	PTCH1	SUFU	LHX4	VANGL2	SOX3	WFS1	PIK3CA	BAP1	TERT	TDGF1	WDR11	CTNNB1	SMARCB1	GLI2	AKT1	NODAL	BRAF	AVP	DYRK1A	PROP1	DISP1	PROKR2	NF2	LHX3	TBX3	PUF60	SMO	SIX3	GPR161	PI4KA	MTHFR	FOXA2	STIL	ROBO1	PDGFB	TGIF1	TP63	GAS1
HP_POSTERIOR_PITUITARY_DYSGENESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_PITUITARY_DYSGENESIS	LHX3	HESX1	POU1F1	PROP1	KIAA0753	OTX2	ADGRG1	TBX3	PUF60	SRPX2	ERF	CDON	LHX4	VANGL2	GPR161	PI4KA	SOX3	MTHFR	WDR11	GLI2	FOXA2	ROBO1	DYRK1A	PROKR2
HP_PITUITARY_GROWTH_HORMONE_CELL_ADENOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PITUITARY_GROWTH_HORMONE_CELL_ADENOMA	PRKAR1A	IFT140	DNAJB11	GPR101	MEN1	PKD1	BICC1	AIP	CDKN2C	PDE11A	ALG9	CDKN1B	CDKN2B	GANAB	PKD2	ALG5	CDKN1A
HP_ABNORMALITY_OF_THE_PARATHYROID_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PARATHYROID_MORPHOLOGY	RET	CDC73	MEN1	CLCNKB	CHD7	NF1	GCM2	KL	CDKN1B	FLCN	TSC2	IFNG	TSC1	TBX1	IDH1	CASR	CDKN2C	GATA3	CDKN2B	IDH2	CDKN1A	SLC12A3
HP_ABNORMAL_THYROID_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_THYROID_MORPHOLOGY	FOXP3	PMS1	SLC26A4	CACNA1S	ITCH	POU1F1	NKX2-5	NKX2-1	SDHD	TSHB	STAT1	TSHR	FOXE1	ECE1	PRKAR1A	NRAS	POLR1C	MINPP1	DUOXA2	APC	KCNJ10	HABP2	SMARCB1	IL7R	FOXD3	SEC23B	RMRP	C1S	CDKN1B	PTEN	SIX1	RRM2B	PI4KA	TRHR	ZFAT	RASGRP1	MSH2	GLI3	GNAS	IYD	SMARCA4	SEMA3D	FAN1	PAX8	STAT5B	TPO	RET	CHD7	TWNK	KRAS	FOXI1	ERBB2	ARID1B	JAG1	POLG	IL2RG	ATP7A	CDKN2B	HRAS	TG	RCBTB1	SLC5A5	HLA-DQB1	GPR35	ALMS1	NRTN	LRBA	GDNF	MLH1	SOCS1	ABCD1	ERBB3	FASLG	PIK3CA	KAT6B	ARID1A	LHX3	WRN	CDC73	SLC37A4	MMP14	TP53	PROP1	CCBE1	SEMA3C	SMARCC2	SRGAP1	IDH1	CDH23	CDKN2C	SMARCD1	MID1	EYA1	LIFR	TBX2	SLC25A4	DNAH1	TTC7A	SDHB	FAS	LHX4	USF3	ADA	EDNRB	GNB2	POLR1D	TCOF1	MSH3	IRS4	EDN3	SREBF1	SOX4	CLCNKB	RAG2	BMPR1A	LIG4	DICER1	THRB	NLRP1	TCF4	MDM2	ADAMTSL1	RAG1	MSH6	POLR1B	EPCAM	RPS20	MMP2	CDKN2A	HLA-DQA1	ARID2	MEN1	SASH1	TGFBR2	IL18BP	MST1	HESX1	PMS2	PRKCD	DUOX2	CHEK2	DCLRE1C	CASP10	FLCN	SEMA4A	SUGCT	DPF2	ADA2	AKT1	MLH3	CDKN1A	SMARCE1	SOX11	TOM1	SEMA4D	IL2RA	PDE11A	NSDHL	POLG2	KCNJ18	KEAP1	KLLN	PLCG2	LMNA	GREM1	SMO	IDH2	SDHC	CTLA4	SLC12A3
HP_THYROTOXICOSIS_WITH_DIFFUSE_GOITER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THYROTOXICOSIS_WITH_DIFFUSE_GOITER	KCNJ18	CACNA1S	TSHR	CLCNKB	GABRA3	SLC12A3
HP_CENTRAL_HYPOTHYROIDISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_HYPOTHYROIDISM	DISP1	SMARCE1	FGFR1	ZIC2	POU1F1	RPL10	STIL	SNRPN	PLCH1	TSHB	TGIF1	LHX4	DLL1	PIK3CA	TERT	SMARCB1	HID1	SHH	GAS1	NODAL	SOX3	GLI2	CDON	STAG2	PTCH1	SETBP1	IRS4	PROP1	DMXL2	TDGF1	SIX3	MAGEL2	POMC	FGF8	TRHR	GLI3	BAP1	KATNIP	INSR	SMO	AIP	FOXH1	POU3F4	NEXMIF	PDGFB	TMEM67	LHX3	NIN	TRH	OCA2	CPE	RBM28	CDH23	OTX2	MEN1	HESX1	TRAF7	SUFU	LEPR	CTNNB1	AKT1	NDN	BRAF	SMC1A	TBL1X	NF2	PCSK1	LEP	FOXA2	SIM1	EIF2AK3	ARNT2
HP_NEOPLASM_BY_HISTOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_BY_HISTOLOGY	PMS1	ZFTA	MBD4	SDHB	SMARCE1	TP53	ASCL1	SDHD	APC	CPLANE1	BRCA1	KIT	REST	GPC4	VHL	EPHB4	CASZ1	KIAA0753	IDH1	SMARCB1	ZFPM2	ADAMTS3	ABCA5	PTPN11	CREB1	SETD2	RPS24	DICER1	RET	CDKN1B	IGF2	MSH2	TSC2	OCA2	FLCN	DZIP1L	ASXL1	SEC23B	HSPG2	MNX1	RPS27	RASGRP1	TCTN3	TAF15	MSH6	GLI3	RB1	ADA2	FH	SMARCA4	SRY	TERF2IP	SMO	RPS28	KRT1	RECQL4	WWOX	GPC3	MAX	PIK3CA	TYMS	H19	DIS3L2	ARID1B	PHOX2B	BDNF	MLH3	MITF	KRAS	RPS29	EDN3	TOPORS	CDKN2A	ANTXR2	RPL35A	TERT	ASPSCR1	TRIP13	WT1	PTEN	YY1	RAD51	SRC	BAP1	SQSTM1	PDGFRA	PRDM16	PTPRJ	NF1	DLC1	HRAS	XPC	NF2	CTSC	PTCH1	APC2	FGFR3	CCND1	GJC2	ARID1A	KIF7	PDPN	RAF1	WRN	CDC73	PTH1R	TRIM28	COL4A5	PLCD1	BRCA2	EXT2	TUBB	ERCC3	SDHA	FLT4	GDNF	SMARCD1	EP300	AXIN2	GDF5	EWSR1	PDE6D	SPRED1	NRAS	BRAF	PCGF2	DMRT3	BUB3	SPTBN1	PAK2	GABRD	SLC22A18	SKIC3	TMEM127	RAD54B	POT1	RPL26	NBN	MDH2	PDE8B	NR0B1	DDB2	SF3B1	CDKN1C	ATP6V1B2	ERCC2	PAX6	PRKAR1A	GNA11	TYR	SMAD4	FLI1	GATA4	NSD1	PTPN12	PALB2	SLC25A11	BMPR1A	SOS1	MYO1H	AAGAB	KIF1B	MRE11	RPS19	SLC6A17	MMP23B	SDHC	BLM	RPS15A	AKT1	RABL3	MLH1	LRP1	DCC	MC1R	PRKCD	GNAQ	TRAF7	ELMO2	TLR2	CHEK2	STK11	MAPRE2	BUB1B	SEMA4A	ERCC6	SSX1	EXT1	CDKN1A	SOX11	RUNX1	RNF43	COL1A1	KCNH1	MEN1	KCNN3	BARD1	FOXO1	PKHD1	RPS7	KCNQ1OT1	PLA2G2A	LMNA	KRT17	IDH2	ERCC5	FAS	ACVR1	RSPRY1	BUB1	BAX	DLST	BMPR1B	FAM20A	PRLR	TSC1	GCDH	PDGFRB	NUTM1	NR5A1	ERBB2	RPS26	MEG3	CCBE1	FAT4	SPEN	GATA1	CDK4	SKI	FGF3	RSPO1	POLD1	PHF21A	FAN1	PDGFB	POLH	GNAS	ERCC4	IFNG	RPL15	RPL11	CDKN2B	ACD	TIAM1	PAX3	RPL27	OFD1	CTNNB1	COL7A1	LUZP1	VPS16	RPS10	FASLG	POU6F2	TRIM37	TRPV3	PDGFRL	RAD51D	DKC1	SUFU	BMPER	KCNAB2	BRD4	SMARCC2	SOX9	TFAP2A	RPL18	CDKN2C	KCNQ1	RPL31	HEATR3	SSX2	RPL5	FIBP	PTCH2	PERP	KLLN	SETBP1	CEP57	RERE	MVK	FAM20C	USF3	NLRP1	COL18A1	MSH3	PRKCZ	SOX4	VAMP7	XPA	DHX37	NEK9	MGMT	FLNA	DLK1	SKIC2	PDE11A	TSR2	SOX2	MAN2C1	RAD51C	BCL10	MCC	PALLD	FOXC2	HDAC4	MDM2	COL4A6	MTAP	KRT10	IL6ST	BRIP1	EPCAM	RPS20	CYSLTR2	MAP3K1	ACTB	MAP2K1	ARID2	TGFBR2	DYNC2LI1	NOTCH3	AURKA	SIX6	PMS2	NR4A3	PRKACA	MMP1	KANSL1	UBE4B	CASP10	RPS17	RAD50	MBTPS2	COL14A1	TMEM216	RTL1	DPF2	RELA	RPL35	CXCR4	SLC37A4	DHCR24	ALX4	POLE	FAM149B1	ANAPC1	KEAP1	GREM1	PAX7	SDHAF2
HP_EMBRYONAL_RENAL_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMBRYONAL_RENAL_NEOPLASM	SPRED1	FIBP	DMRT3	IGF2	GPC4	BUB3	BRCA2	PIK3CA	TRIP13	PALB2	WT1	EXT2	CEP57	NR5A1	TP53	DIS3L2	ZFPM2	NR0B1	SETBP1	REST	CDKN1C	POU6F2	GPC3	VAMP7	ASXL1	DHX37	H19	DICER1	PAX6	TRIM37	PHF21A	GATA4	CDC73	SRY	TRIM28	PTCH1	BMPER	KCNQ1OT1	BUB1B	HDAC4	WWOX	ALX4	SOX9	KCNQ1	HRAS	BLM	BUB1	MAP3K1
HP_ABNORMALITY_OF_FACIAL_SOFT_TISSUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FACIAL_SOFT_TISSUE	AMPD2	RASA1	SMARCE1	FKRP	SEMA3E	VPS37D	VCP	POU1F1	YARS1	ADCY5	CHRND	KNG1	TREX1	MTMR14	SDHD	POMT1	LRP12	LMNA	GPC4	MYL2	EPHB4	ACTA1	LRP4	SIX1	SNCA	LTBP4	GAN	FKTN	TK2	KCNJ6	NEFL	TGFBI	PNPT1	TPM2	GNPTAB	RYR1	LMOD3	MTM1	NARS2	POMP	LRP5	TCIRG1	ASXL1	UBA1	DNA2	SEC23B	RRM2B	DHCR7	CC2D1A	PLG	MSH2	MSH6	PLA2G6	GLI3	SH3TC2	PEX3	LGI3	CNBP	SMO	TET3	DBH	PEX1	MECP2	SMCHD1	RECQL4	CAMTA1	KAT6A	WT1	CFL2	SLC26A2	LRRK2	POMT2	SLC25A21	POLG	HOXB1	CLCN7	COL6A2	UBA2	MED12L	HK1	JAG2	BIN1	KRAS	MUSK	KBTBD13	POLR3A	PLEC	GFPT1	TPO	MLXIPL	MYH7	MYO1E	TP63	CHRNG	GJA1	LARGE1	PRTN3	PEX5	ATP13A2	PIEZO1	IYD	GLE1	GIPC1	MAGI2	YY1	POU3F3	FRG1	BAP1	RIN2	NUP205	SPEG	KNSTRN	ATP6AP2	HLA-DPB1	CLTC	FKBP6	NPHS1	MGME1	DUOXA2	CHRNE	PEX6	POLG2	PABPN1	NF2	NECTIN1	KDM5C	ZFHX4	PAX2	DNMT3B	ANKH	COL12A1	LHX3	ADAMTS2	FBXO7	ABCA1	CAPN3	DOK7	KLHL41	PIK3CA	DDHD2	CHD7	EBF3	ACTN4	KIF1A	ANO5	MPZ	MYPN	TRPC6	POU4F1	SLC30A9	PLCD1	CLIP2	HACD1	GNA14	SUPT16H	ZC4H2	ZNHIT3	ALB	EYA1	SATB2	MAN2B1	PPP1CB	ZBTB11	STAC3	SLC1A3	COL6A3	VPS35	PCGF2	MYL1	SLC25A4	KDM4B	SPTBN1	SLC52A3	NGLY1	SRPX2	ADSS1	DLL4	SDHB	COL13A1	DNAJC6	DHX30	ADAMTS3	SQSTM1	DES	SPTBN4	ATP1A2	TOR1A	KCTD1	SMARCB1	AP4B1	CHAMP1	ERCC8	TG	DSE	DNAJC13	FOXG1	FRMD4A	SOX18	POGZ	ATP1A3	NUP93	CHRNA1	SELENON	SERPING1	CRYAB	SOST	CHCHD10	ALS2	ACTB	SLC25A1	MYOF	ITGB4	COQ8B	CHAT	REV3L	GMPPB	AP4S1	LPIN1	GIGYF2	PTRH2	FLNC	MTMR2	COL4A1	PLXND1	VPS13B	EIF4G1	MT-TE	SGCD	BAZ1B	ELN	IGSF3	CCDC22	XPNPEP2	SLC6A3	MLH1	SLC18A2	ZMIZ1	NRAS	JAM2	BTNL2	CHRNB1	SLC52A2	TPM3	XRCC2	SLC30A10	PEX10	NEB	STRADA	MYOT	TRAF7	SLC19A3	EIF4H	SHANK3	PTEN	STAG2	DNM1L	PEX11B	NUP107	SALL4	SNX10	HRAS	ADA2	SET	PEX14	IRF6	ITGA7	AGRN	NFU1	PSPH	UNC80	CD2AP	TWNK	AP4E1	MYD88	HLA-DPA1	GBA1	TUBB3	SLC5A7	PUF60	CNTNAP1	DUOX2	SYT2	PTDSS1	PEX12	GPR101	SLC25A42	SYNE1	COL5A1	SYNJ1	PEX26	FTL	AMER1	KRT17	ANTXR1	COL25A1	SDHC	COL6A1	TSC2	KLHL40	MAP3K20	MGAT2	TSC1	KCNK4	GJC2	ANLN	TSHB	F12	MYMX	MEGF10	PRDX3	MYMK	ZMPSTE24	PEX13	TTN	MT-CO3	HAVCR2	TBC1D8B	METTL27	PPP2R2B	TUBB6	SLC18A3	TGFB1	AIP	BAG3	NPHS2	SPR	PODXL	GTF2IRD1	ARHGDIA	TNFRSF1A	SCN4A	HLA-DRB1	SHMT2	PI4KA	PTPRO	OSTM1	PRKCG	PSMB9	XYLT2	SUMF1	ASAH1	TPP2	SNX14	BMS1	AK9	GRIA3	PDGFB	ACTG1	DNM2	CTLA4	CRB2	KY	HS3ST6	NUP37	SBF2	YME1L1	TECPR2	BCL7B	ANGPT1	CRPPA	EMP2	NCF1	VAMP1	GAPVD1	LAMA2	PSMB8	ABCD1	INF2	GDAP1	APOL1	RAB11B	ANKFY1	COX6A2	NLRP1	ATXN1	SLC39A14	AKT1	PURA	PIK3CD	DCTN1	PPARG	PEX16	TXNL4A	CD96	RFC2	TBL2	PRRT2	TRPV4	CHKB	DNAJB6	CDH11	PAX7	GTF2I	NOTCH2NLC	ERCC6	PROP1	CCBE1	PLAA	COL1A1	NEU1	MSTO1	CACNA1A	GAA	BICRA	TFAP2A	PEX2	GSN	MYO9A	STX1A	NOD2	DNAJC30	KPTN	ESCO2	SLC12A6	DUX4	PEX19	ADGRG1	SETBP1	COL5A2	SCO2	SIX5	ALG2	DYNC1H1	LHX4	DMPK	USF3	COLQ	LMNB2	TRIM32	RILPL1	TERT	ACTN2	SLC29A3	ADCY6	COL4A3	CAMK2G	PPP2R1A	RBM8A	AP4M1	PLCE1	POR	WASHC5	IRF2BPL	IFNG	SLC35C1	SF3B2	HERC1	BUD23	GNAQ	MSX1	GNE	SNAP25	SLC5A5	DPAGT1	MTRFR	OGDHL	MEN1	CLCF1	HESX1	LAMB2	SURF1	NUP85	CACNA1S	SUFU	CADM3	PSMB4	MT-TN	SPTBN2	GTF2IRD2	LIMK1	OPA1	ANXA11	RAPSN	GPC3	PPP2R5D	CRLF1	TMEM270	KCNK9	NUTM2B-AS1	RNASEH1	ALG14	NUP160	OFD1	ANAPC1	TNFSF11	SUCLA2	NUP133	KIF1B	LRIF1	KLLN	PTPN22	ACADS	ARHGAP24	MT-CO1	SCN1A	DAAM2
HP_MIDFACE_RETRUSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MIDFACE_RETRUSION	AMPD2	MGP	PLP1	COL1A1	MN1	ITCH	IARS2	CTSK	POU1F1	TMCO1	CLCN3	ACP5	IL11RA	CTCF	TBX1	COL2A1	COL9A3	HECW2	DEAF1	ZBTB20	B3GALT6	FGFR2	LBR	FGFR1	LTBP4	ACAN	CASZ1	POLR1C	POP1	FOXG1	BMP4	PITX2	IFT52	NDUFB11	CANT1	CBL	RNU12	EHMT1	SPEN	AMMECR1	WAC	PRKAR1A	RRAS2	DVL3	MBD5	FZD2	NSMCE3	ELN	MEGF8	SKI	SATB1	TCF12	COL18A1	TSR2	HSPG2	SEC24D	COX7B	WNT5A	PSMC1	CHD1	TONSL	HCCS	COL11A2	CCDC47	PTPN11	TBL1XR1	H19	B4GALT7	CCDC8	KAT6A	NKAP	GHR	RRAS	MRAS	OBSL1	FBN1	FGFR3	PIK3R1	BMP2	RAI1	SLC26A2	RIT1	CLCN4	LEMD2	FAM50A	HOXB1	ZNF407	GLI2	BICD2	PTH1R	FLNA	CDC42	ALG12	LRPPRC	YME1L1	DDR2	IGF2	LZTR1	SP7	H3-3B	BCL11A	IFT81	DVL1	KMT2C	SMCHD1	SLC6A8	FAM20C	MYSM1	HSPA9	PSMD12	AIFM1	IQSEC2	BRF1	TWIST1	COL11A1	DLX4	PRDM16	SMC1A	PIGV	LUZP1	PPP2R5D	TCF20	FLII	SMAD4	CPLX1	TUBGCP2	RUNX2	LRP2	SLC35D1	DPH5	UBE2A	TGFB3	KRAS	LHX3	TRIO	NEPRO	NECTIN1	PDPN	WDR73	KIF1A	MLXIPL	KCNAB2	PROP1	FLNB	PEX1	GRIN1	RAB3GAP2	EBP	BICRA	USB1	CEP120	AGL	KCNQ1	ZNHIT3	P4HB	TMEM165	ROR2	SEC23A	SATB2	SOX9	FIBP	ERF	SHH	SLC9A7	RNF13	SH2B1	LMNA	SETBP1	ATRX	CSGALNACT1	NGLY1	PTRH2	MAF	RERE	IREB2	PAK2	GABRD	POMGNT1	OSGEP	CUL7	LHX4	PTCH1	NRAS	GPC4	MIR140	ZIC1	RAB23	HDAC4	POLR1D	TCOF1	PRKCZ	DSE	GMNN	CDKN1C	SOX11	POGZ	RAC3	FOXC1	SOS2	H3-3A	POR	EFTUD2	STAC3	CHST3	CDH11	DDB1	GDF11	COG1	SPRED2	PDGFRB	DCHS1	KIF15	POLR1B	NFIX	KIF22	PDE4D	SOST	SF3B4	MECP2	MMP23B	RASA2	RFWD3	POLR1A	SLC25A24	HNRNPH2	RAF1	SIX3	BPTF	PRKACA	BANF1	LINS1	RAB3GAP1	CHD3	ZMIZ1	SON	WASF1	HESX1	CAMK2B	LIFR	ACTB	MAN2B1	UBE4B	MESD	PYCR1	ANKRD17	DHX37	MED13L	EPB41L1	SERPINH1	NXN	FAT4	WDR35	NF1	TLK2	LRRC32	PRR12	MTOR	TSEN54	OTUD5	ATP6V0A2	B3GAT3	RYR1	SMAD2	CDK19	PTEN	CILK1	COL9A2	RPS28	KCNQ1OT1	SOS1	ANTXR1	MRPS14	BUB1B	PKD2
HP_HAMARTOMA_OF_TONGUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAMARTOMA_OF_TONGUE	OFD1	CPLANE1	KIF7	NEK1	TOPORS	WDPCP	MAN2C1	DYNC2H1	TMEM231	DDX59	KIAA0753	GNAI3	EDN1	FAM149B1	C2CD3	INTU	TMEM216	TMEM107	PLCB4	TCTN3	PDE6D
HP_BIFID_NOSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIFID_NOSE	ALX3	NF1	FREM1	ALX1	ZSWIM6	NUAK2	TFE3	ALX4	TBX4	HYLS1
HP_TYPE_1_MUSCLE_FIBER_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPE_1_MUSCLE_FIBER_ATROPHY	LMNA	HNRNPK	MAP3K20	HACD1	MYL2	SELENON	ACTA1	EMD	FHL1	TPM3	SYNE1	TMEM43	SYNE2	TPM2	ALG14	ITGA7	RYR1	SPTBN4
HP_DECREASED_PATELLAR_REFLEX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_PATELLAR_REFLEX	DYNC1H1	MYH14	MYH7	FBLN5	HADHA	REEP1	LDB3	BICD2	HADHB
HP_INCREASED_CEREBRAL_LIPOFUSCIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CEREBRAL_LIPOFUSCIN	TPP1	CLN6	TARS2	PSAP	DNAJC5	PPT1	CTSD	CLN8	CLN3	CLN5
HP_BASAL_ENCEPHALOCELE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BASAL_ENCEPHALOCELE	GLI2	FGF8	TDGF1	DLL1	NODAL	STIL	ZIC2	FOXH1	CDON	ALX3	TGIF1	DISP1	SIX3	PTCH1	GAS1	SHH
HP_SUBMUCOUS_CLEFT_SOFT_PALATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBMUCOUS_CLEFT_SOFT_PALATE	UBB	TP63	NONO	POLR3A	GRHL3	IPO8	NEK1	KCNK9	SON	STAC3
HP_ABNORMAL_FACIAL_SKELETON_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FACIAL_SKELETON_MORPHOLOGY	MGP	GABRA3	ODC1	VPS37D	LRP4	APC2	HS6ST2	IL11RA	SPATA5	HS2ST1	RARB	IFT43	FOXE3	CPLANE1	ARHGAP29	RPGRIP1	LBR	OTX2	ZNF699	KCNJ6	RNU4ATAC	NDUFB11	PTPN11	PRKAR1A	AP3D1	FZD2	CDT1	BRCC3	MEGF8	PEX14	RNF113A	SETD2	FBXW11	SEC24D	GP1BB	GNAS	MAT2A	ADA2	TPM2	RAC2	TAPT1	MECP2	TGFBR2	COL6A1	PQBP1	STAMBP	LARP7	RFXANK	UNC119	HNRNPR	NFIX	UBA1	SLC3A1	HNF1B	DNAH1	MAGT1	RPS29	NRCAM	POLR3A	CDC6	LZTR1	NPR3	TOPORS	SP7	SATB2	BRCA2	H3-3B	ERCC5	DHODH	DVL1	SMCHD1	HSD17B4	LRBA	RPL35A	TRPS1	PRTN3	CHN1	PIGN	PSMD12	RUSC2	NFKB2	KIDINS220	MAFB	BBS7	APC	MYL2	BPNT2	PTH1R	C12orf57	FKBP6	FLII	VPS33B	UBE3A	NCAPG2	ATAD3A	TUBGCP2	CHRNE	HSPG2	KDM5C	IGBP1	PEX3	COG1	MCIDAS	GAS2L2	CHD7	SOX5	ACP5	RAI1	ATP6V1A	SLC11A1	NEK9	CDC73	IRF6	RECQL4	ARX	IL2RA	TPRKB	PIK3R1	ASNS	AEBP1	RSPH4A	EBP	ZNF335	CAVIN1	TRRAP	SCYL2	P4HB	CFAP298	FBN1	ZBTB11	IGKC	CFAP52	PCGF2	FLNB	MYCN	CAMTA1	DLG3	ERMARD	EZH2	COL2A1	RFX5	PTDSS1	LAS1L	SHOX	SLC25A24	KCTD1	RPL26	NBN	IGF1R	HDAC4	TCTN3	DDB2	GSC	TCOF1	FUCA1	ALG11	KMT2D	TAPBP	FOXG1	ERCC2	UBE3B	SOST	CFTR	EFTUD2	ACTB	SLC9A6	SLC25A1	WNT5A	RSPO2	ALX3	TGDS	GPC3	XRCC4	KIF15	FGFR3	CCDC32	DNAAF1	PAH	SPEG	SRCAP	TNPO2	SELENON	TBX1	EMG1	CTU2	PLXND1	POLR1B	TCIRG1	ASXL1	CCDC22	DVL3	DOK7	FGFR2	NDST1	NOTCH2	EP300	MOGS	MAN2B1	EIF4H	SHANK3	STAG2	IGF1	MCTP2	SOX6	ADAMTSL4	NXN	ITGA7	PIGO	HYMAI	IGF2	KCNH1	MAGEL2	PITX2	PEPD	B3GALT6	NGF	FDFT1	TRIO	CCDC39	NRAS	PHIP	CNOT3	P4HTM	VPS35L	GRIP1	NEK1	HBA1	KAT5	NF1	CCDC103	SNRPN	HMGA2	TGFB1	MYMK	ZMPSTE24	MEG3	GPKOW	CTBP1	AMMECR1	RRAS2	METTL27	CNTNAP1	FGF3	LRP5	TONSL	SMOC1	COL1A2	ALG14	WDR62	H4C3	TNFRSF13B	EDA	MYOD1	BUB1B	TNFRSF11A	NARS1	CPLX1	PEX1	FOXC2	SLC5A7	NME8	CLCN4	PMM2	LEMD2	GRIA3	OTUD6B	SIX2	BICD2	TBC1D20	PAX3	FAT4	FLNA	SLC6A17	SOX18	STEEP1	SMAD3	TRAIP	NCF1	MYH3	TBCE	SUZ12	NUP88	FBXO31	PTCH2	RAB3GAP2	PPP1R15B	DNAH11	SLC6A9	COL11A1	RERE	PIGV	HYDIN	TMEM216	SMAD4	ARCN1	KAT6B	TMCO1	PEX13	KRAS	NECTIN1	MUSK	HDAC8	DNAAF2	KIF7	IFIH1	GPC6	FANCI	BRAT1	SUFU	SMG8	ERCC6	MLXIPL	B9D1	TOE1	BPTF	DNAAF5	PHGDH	THOC6	MAPK1	CEP55	AGL	CENPE	SKI	ROR2	SLC26A2	PIK3CA	ERCC3	SH2B1	GATA4	ATRX	NUP133	NEB	PLAGL1	VPS53	FAM20C	PEX11B	COLQ	SLC18A3	PRMT7	KPTN	HIRA	WAS	RPS19	EIF4A3	CACNA1C	SETD5	NUP85	TWIST1	CEP152	ARVCF	NSMCE2	ALX1	AP1S2	FANCF	TAFAZZIN	CARS1	TRMT1	NUP107	CRLF1	SMO	RSPH1	KLHL41	ITGA8	NEXMIF	PEX2	KMT2B	TYMS	SIX3	HMOX1	TNNI2	DOCK8	DPM1	BANF1	MAP2K1	DNAH9	CDKN1C	SH3PXD2B	SEMA5A	RAB3GAP1	PPP1R12A	KATNB1	TAP1	DNAAF11	LAMB2	LIFR	TPM3	ICOS	FANCM	NSD1	PTEN	ZBTB18	RNF168	SASH3	MESD	PIGW	PIGA	HPDL	RPS17	CASK	ATP6V0A2	SH3BP2	ANK1	NAA10	POR	DPAGT1	COL3A1	PIGU	MAMLD1	EMC1	DNAAF3	PDE11A	GALNS	CXCR4	B3GAT3	FANCE	IGLL1	GAD1	FAM149B1	CHST14	DLX4	SLC25A19	ODAD1	COL5A1	SC5D	MDM4	WIPF1	CTSK	FANCB	NSD2	ARSL	DEAF1	IDS	AIP	KIAA0753	ADGRG6	IPO8	IDH1	ORC1	DYNC2I1	WASHC5	CANT1	EXTL3	RPS24	DRC1	IFT140	CFAP300	C4B	SPECC1L	TBC1D2B	FAM111A	RPS27	BTK	TBC1D7	CCDC65	TBL1XR1	MMP2	EXT1	RREB1	PARN	PLK4	CLCN7	HMX1	TAF1	RIT1	EXOC7	DYM	DIS3L2	SLC29A3	FCGR2A	ADAMTS10	SH3KBP1	KBTBD13	GFPT1	GJA1	DYNC2H1	ASXL2	MTX2	MYH7	TP63	CHRNG	SLC6A8	NDP	LOXL3	CEP290	YY1	CYBC1	NALCN	TGFB2	C2CD3	CDH1	MAN1B1	RAD51C	XPC	PCNT	KAT6A	PTCH1	RTL1	PEX12	FOXP1	NPM1	PRKG2	FANCA	ATR	MYPN	FRMPD4	PDE4D	SLC2A10	DNA2	SLC37A4	FCGR3A	ZC4H2	CTDP1	CEP120	ZNHIT3	NEK10	MID1	LMNA	NSDHL	SOX9	SHH	KDM4B	UBB	EXT2	COL13A1	NUDT2	ERF	COL11A2	STXBP2	IL21R	PRUNE1	RTTN	WRAP53	HERC2	ERCC8	GMNN	CLPB	OSGEP	UPF3B	POLE	OFD1	CDCA7	CNOT2	ATP6V0A1	SCN9A	FOXC1	DGCR8	DNMT3A	CHAT	MPLKIP	PEX5	EDN1	POLR1A	BLM	COL9A2	DNAI2	PAX1	AFF4	ELN	ERCC1	IGSF3	ANKRD11	SF3B4	SVIL	HBB	CLCF1	POLA1	PSAT1	TTC12	KDM6A	DNAI1	PIGT	RDH11	ERCC4	MAP3K7	BSCL2	NFASC	MFAP5	HBA2	RNF125	EXOSC1	RBBP8	OCRL	MBD5	AUTS2	PUF60	KCNN3	LARGE1	GPR101	CILK1	RPS7	STX1A	MPDU1	ANTXR1	RSPRY1	ANKLE2	DLG1	PNP	EIF5A	ADAT3	DNAH5	CLCN3	NFKB1	AFF3	TNFRSF13C	COL5A2	MYMX	COG5	RPGR	FOS	RFXAP	CCBE1	TTN	CBL	RNU12	TNRC6B	TMEM107	SLC9A3	TRIP4	ODAD4	RAB18	WNT3	COX7B	THUMPD1	NHP2	TAP2	OCLN	H4C9	NOP10	PSMB9	CEP57	TINF2	RPL15	FGFR1	RPL11	FBN2	RTEL1	ECEL1	VPS13A	LRPPRC	TMEM70	SEC31A	BCL11A	NOTCH3	VPS13B	BGN	EYA1	LETM1	DHCR7	PSMB8	TBCD	DLK1	PNKD	ATG7	TXNL4A	EED	DCTN4	ABL1	COG8	RPS10	PYCR2	EFEMP2	NHS	GATA1	TRIM37	POMT1	RSPH9	TUBB3	GTF2I	TAB2	PLA2G6	GHR	CR2	PLAA	PIK3C2A	CD79B	PI4KA	MYO9A	CENPJ	CSNK2A1	SEC23A	ZMYND10	ALMS1	NCF4	ZNF292	INPPL1	ADGRG1	CDC42BPB	PLCB4	COL12A1	GNPAT	BCR	SLC39A14	ATP6V1E1	SNIP1	MYLK	PRKCD	LIG4	RAB23	TELO2	PLAG1	ANAPC7	CCDC40	PTPN22	CACNA1G	RAC3	XPA	IVNS1ABP	MADD	TARS1	MAN2C1	CHST3	SPRED2	RFT1	PDGFRB	PIEZO2	LRRC8A	HNRNPH2	IRX5	ARL6IP6	PKDCC	TGFB3	ABAT	STT3A	MCM5	SON	OBSL1	KL	VANGL2	RYR1	B3GLCT	DNAJC21	COG7	GTF2IRD2	LIMK1	MSL3	LMOD3	MED13L	CRIPT	SIM1	SCNM1	IGHG2	AP4M1	TMEM270	KCNK9	WLS	CHRNA1	CLIC2	AIMP2	SIN3A	TSEN54	PSMC3	TNFSF11	GORAB	AGPAT2	GBA1	RBM8A	WT1	PIGL	CD79A	SEMA3E	YARS1	CUL4B	ZBTB20	GPC4	MYH8	SERPINA1	LTBP4	HYLS1	B9D2	PURA	RSPH3	PIGY	BMP4	TERT	ADAMTS3	SALL4	EHMT1	GNPTAB	SPATA5L1	EDEM3	TSR2	SFRP4	WDR26	TBXAS1	RPS28	ZEB2	B4GALT7	PDGFRA	DYRK1A	SPOP	CFL2	RBM10	UNC80	HOXB1	KCNJ2	PALB2	DSE	TUBA1A	TWIST2	CREBBP	RPS6KA3	COL6A2	TRIP13	PIEZO1	GLE1	DPH1	MEN1	TGFBR1	CFAP221	ERGIC1	PTPN2	COL1A1	FGF10	RIN2	KIF11	MKS1	RUNX2	DPH5	HEY2	CSPP1	GLI2	MAD2L2	EDNRA	KIF1A	PRDM13	MINPP1	FMR1	BRIP1	ANO5	COLEC11	USB1	DHCR24	SPEN	SPI1	ERBB3	MIF	CRPPA	FTO	IL1RAPL1	SRY	STAC3	DPM2	RAD21	GNA11	PIGB	MAF	FOXF1	SRPX2	DHX30	LAGE3	SPRTN	ZBTB24	ADA	POLR1C	NBAS	RIPK4	POLR1D	INTU	SRP54	ATP6V1B2	CD19	IBA57	GRB10	CDH11	RB1	PYCR1	MTHFR	SLC26A9	ADAMTSL1	MAPK8IP3	IGHM	TRMT10A	VAC14	DSTYK	BAZ1B	RPS15A	PRKACA	ZNF341	ACAN	SLC35A2	ZMIZ1	SEC24C	WDR73	KNL1	PRRT2	PEX16	PGM3	PREPL	NDE1	FKTN	SMC1A	MAPRE2	PAK2	PUS1	EFL1	RHOA	ANKH	GJA8	PSPH	LRRC32	CCNO	PRR12	HRAS	HNRNPH1	SYT2	FLCN	ACSL4	SLC35D1	PKHD1	CAV1	RAF1	BUB1	AMER1	FANCC	CIITA	ARNT2	RPGRIP1L	BRD4	DNAJB13	MGAT2	KCNK4	GRHL3	IRF8	KCNJ5	TCTN2	PIK3CD	CSF1R	SSR4	HYOU1	ATPAF2	STAG1	ACTA2	ORC6	PHF21A	CLCA4	CDK5	POLD1	FGFRL1	PLEKHM1	AP2M1	HCCS	SPRED1	COL9A1	OSTM1	AHDC1	IL17RA	MRAS	BCL11B	IFT80	SMPD4	IL2RG	FOXJ1	DGCR6	FANCL	GTF2H5	NME5	MAP2K2	ODAD2	EXOSC5	CEP135	PEX6	BCL7B	MAPKAPK5	PEX19	DOCK3	PEX7	CRKL	RPL10	TBX22	SPEF2	MYBPC1	UBE2A	PRRX1	OPHN1	SMAD2	PAX7	TUBB	BMPER	PIGG	ALG13	CCDC88A	ATP7A	DOCK6	MSX1	MSTO1	BICRA	CHD5	RPL18	STRA6	XRCC2	RPL31	HEATR3	C1S	SLC10A7	NSUN2	LTBP3	DGCR2	DNAL1	AARS1	SIX5	POMGNT1	BLNK	GNAI3	GLB1	TFAP2B	SETBP1	BRAF	MRPS22	POMT2	MYO18B	SBDS	NSRP1	H3-3A	CHSY1	INSR	FOCAD	FGD1	NCF2	SLC35C1	KIF14	DCHS1	BUD23	SNAP25	PGAP2	PYROXD1	NUP188	RELN	RPS20	MIA3	CWC27	GJA5	LMBRD2	LEMD3	ACTG2	SERPINH1	ALG9	WDR35	DDR2	ORC4	JMJD1C	GLDN	FANCG	RAPSN	ALX4	PEX26	CC2D2A	SMS	NONO	SNRPB	D2HGDH	CSNK2B	TBCK	WBP11	AKT1	UBA2	PDZD8	IARS2	ABCD4	CUL7	UBE2T	HNRNPU	SIX1	TCF3	ACTA1	PPP3CA	CNOT1	FBXO28	STK36	DPYD	FBXL3	FLVCR2	DZIP1L	GLI3	IDUA	MED12	CREB3L1	RRAS	DNMT3B	ODAD3	CEACAM6	CYBB	CD96	TCTN1	YARS2	CHUK	BIN1	SLC35A3	ZDHHC9	SPAG1	LOX	TXNDC15	GCLC	FARS2	PIGF	HLA-DPB1	AGA	KIAA0586	ASXL3	TBX4	CTC1	IGFALS	GTF2E2	RPL5	ADAMTS2	HFE	COL6A3	MTM1	GATAD2B	POU1F1	CLIP2	HACD1	COASY	FIG4	RFWD3	ACTG1	TMEM165	PDE6D	CCNK	BUB3	CSGALNACT1	GAS8	GNB2	BDNF	CFI	KCNN4	POGZ	FOXE1	ALG12	DNAAF6	BRCA1	TASP1	TMEM67	TNNT3	DONSON	SCARF2	CENPF	REV3L	DDB1	TBX15	HELLS	SLC6A14	PRKACB	COMT	RSRC1	KIFBP	FUT8	ATM	ATRIP	KCNC2	OCA2	IQSEC2	HUWE1	COL25A1	COG4	RLIM	PRKG1	HLA-DPA1	KCNE5	IRF2BP2	CEACAM3	SOS1	BNC2	VARS1	CD247	TERC	MAP3K20	WNT7A	HDAC6	CTNND2	EXOC6B	DNAAF4	RPS26	RHOBTB2	ATP6AP2	SLC12A2	ARID1B	PSMC1	TAT	CFAP45	TRIP11	GTF2IRD1	TENT5A	CYBA	POC1A	FAM50A	MYL11	CTLA4	PIGQ	CHRND	CPE	RPL27	VAMP1	ANKRD55	AIFM1	LAMA2	BRF1	SLX4	PPARG	TMEM237	RFC2	FANCD2	LRP2	WDR4	TBL2	GEMIN4	COL9A3	PUS7	IL2RB	NEPRO	BLTP1	ATP10A	FHL1	DYNC2I2	STAT4	TFE3	ALDH1A2	TFAP2A	NELFA	KDM6B	EPG5	PRORP	DNAJC30	ESCO2	ESS2	SLC12A6	LRRC56	ASPH	NIPBL	FKRP	NR2F1	MITF	PCDHGC4	H4C5	C1R	SOS2	DKC1	ADAMTSL2	TOR1A	GDF11	SMC3	PEX10	PRIM1	SF3B2	ELANE	COG6	HERC1	IL6ST	INTS1	RASA2	KIF22	TMEM231	LGI4	IKBKB	GSTM3	TP53RK	RMRP	AGRN	NTRK1	BMP2	PSMB4	ALG1	PLOD3	CDC45	PGAP3	NEDD4L	MYH11	RPL35	PGM1	OTUD5	PAX6	MED25	CLTCL1	SOBP	RAD51	CA2	UFD1	ARID2
HP_BROAD_CHIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_CHIN	EBF3	SLC12A2	DYRK1A	KANSL1	STEEP1	LMX1B	STXBP1	WAC	TAF1
HP_CHIN_WITH_HORIZONTAL_CREASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHIN_WITH_HORIZONTAL_CREASE	FOXP1	TRPS1	RTL1	DLK1	NAA10	SCNM1	EED	TWIST2	MEG3	CDH11
HP_CHIN_WITH_H_SHAPED_CREASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHIN_WITH_H_SHAPED_CREASE	RTL1	DLK1	MYH3	MEG3	NALCN
HP_ABNORMAL_ORAL_MUCOSA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ORAL_MUCOSA_MORPHOLOGY	NLRP3	F13A1	IRF2BP2	ITGA2B	WIPF1	VPS37D	GJB2	FIP1L1	REST	GPC4	COL7A1	TET2	IDS	C1R	DSG3	KCNJ6	TLR4	CYBC1	TERT	ADAMTS3	ABCA5	FBXO28	EXTL3	GNPTAB	CDKN1B	IL7R	FZD2	ELOVL4	PLG	GP1BA	TRIM8	ACD	DHCR7	STAT5B	GLB1	IRF9	RASGRP1	TCTN3	C1S	TWIST2	IL1RN	FCGR2C	TGDS	KCNN3	MMP2	ITGA6	CAT	ZEB2	GP1BB	PARN	TCIRG1	RTEL1	TINF2	GP9	FGG	CYBB	KRT5	NFIX	TYMS	HLA-DQB1	FERMT1	DDR2	MLXIPL	ALMS1	MTX2	LMNB1	DVL1	LBR	ANTXR2	USP8	ORAI1	RIN2	MEFV	HPS1	SH3PXD2B	LYST	NLRP12	FKBP6	AGA	CTSC	ASXL3	CTC1	WAS	ADAMTS2	BLOC1S3	SLC37A4	NPM1	KIF1A	CDH23	SAA1	SCARB2	ATP6V1B2	CLIP2	PRKDC	USP48	BCOR	MAP1B	NEU1	ZNHIT3	IL12A-AS1	ROR2	SATB2	SC5D	SLC6A19	PML	IDUA	SREBF1	STAT4	TLR7	HPS3	COL17A1	KIF7	CLPB	FGFR2	CARMIL2	HLA-B	KRT14	WRAP53	COL3A1	SRP54	MMP14	F7	PLEC	PIGA	WNT5A	NOD2	STAT3	MPL	SLC35C1	SOS1	GBA1	ITK	TLR8	F10	PRF1	JAK2	VAC14	BAZ1B	RMRP	ELN	HLA-DQA1	DVL3	FAM20A	F2	IL18BP	RHBDF2	LAMA3	NOTCH2	IRAK1	WDR1	ATRX	PRKCD	MAN2B1	ELMO2	RELA	DSP	DCLRE1C	EIF4H	WDR26	TBC1D2B	EFL1	NXN	RNF125	KLRC4	CDKN1A	OCRL	KRT16	HYMAI	KCNH1	GNAQ	MEN1	GUSB	MYD88	CNTNAP1	RHOH	NUMA1	ITGB4	SAMD9	NGF	FAS	NCF4	IL6	TSC2	TERC	FGA	PRKACB	DCLRE1B	MGAT2	TSC1	KCNK4	IL10	AFF3	PDGFRB	HIVEP2	RACGAP1	KRT6C	F13B	CCBE1	MVK	FAT4	METTL27	ECM1	HYOU1	ITGB2	IL21	XYLT1	TP53	FGF3	CEBPE	GFI1	KRT4	NCF1	NHP2	STK11	BLOC1S5	GTF2IRD1	EDA	G6PC3	PLEKHM1	NOP10	OSTM1	CYBA	MMP1	XYLT2	AP3B1	CLTRN	CDKN2B	PRKAR1A	ZAP70	ERAP1	MMACHC	BCL7B	LMBRD1	VPS13B	FAM20C	MYSM1	NAGA	SYK	GLMN	IFNGR1	ABCC6	ATG7	HYLS1	KIF23	CD96	RFC2	SPP1	USB1	DKC1	FASLG	TBL2	SMAD4	TMCO1	LMAN1	TRPV3	SLC46A1	F5	GTF2I	RARA	FGB	RALGAPA1	PIGN	CDKN2C	ENG	STX1A	SLC17A5	ITGB3	ELANE	KRT6B	DNAJC30	TBC1D24	PERP	PLAGL1	LAMB3	IER3IP1	RIPK4	FIG4	NABP1	ZBTB16	IFNG	PRMT7	ELF4	SLC29A3	INSR	TNFAIP3	AEBP1	IL10RA	KRT6A	SETBP1	C4A	ABCD1	IL12A	EVC2	SBDS	B4GALT7	ACVRL1	IL23R	SERPINF2	BRAF	NCF2	NR3C1	MCFD2	GLI1	KRT17	BUD23	GJB6	MIA3	NOTCH3	EMC1	CD27	GORAB	LAMC2	CCR1	KYNU	IL17RC	NTRK1	SASH3	DNAJC21	CASP10	ABCC9	GTF2IRD2	KCNMA1	LIMK1	USP9X	MBTPS2	TBCK	ADA2	GPC3	TMEM270	RIPK1	CD40LG	AIMP2	CXCR4	DYNC2LI1	UBAC2	DHCR24	PIGS	F8	TBL1XR1	EVC	PRKACA	RPA1
HP_OVERHANGING_NASAL_TIP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVERHANGING_NASAL_TIP	SIN3A	TGFB3	COG4	TCF4	METTL5	PRKACA	ATN1	MAPKAPK5
HP_MOYAMOYA_PHENOMENON	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOYAMOYA_PHENOMENON	ACTA2	RNF213	RNASEH2C	NFIA	TREX1	LSM11	RNU7-1	IFIH1	SAMHD1	ADAR	RNASEH2A	BRCC3	GUCY1A1	RNASEH2B	PCNT
HP_ABNORMALITY_OF_T_CELL_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_T_CELL_PHYSIOLOGY	PNP	AK2	CASP10	FAS	RAB27A	ESS2	SEC24C	RASGRP1	DGCR2	ICOS	RFX5	PGM3	TGFB1	RAG1	CARMIL2	LEPR	TBX1	HIRA	RFXAP	DOCK2	WAS	CASP8	RFXANK	TNFRSF13C	NSMCE3	JAK3	CIITA	UMPS	CD40LG	CD19	GP1BB	ARVCF	CTPS1	DGCR8	SMARCAL1	FASLG	CD3E	JMJD1C	RAG2	TNFRSF13B	CR2	RREB1	ADA	COG6	SLC39A4	LEP	CARD11	MRTFA	WIPF1	DGCR6	GATA3	EPG5	COMT	UFD1	LIG1	LCP2	HLA-DRB1	MAGT1
HP_ABDOMINAL_COLIC	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABDOMINAL_COLIC	APRT	ALAD	ABCB4	DGAT1	SI
HP_PICA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PICA	DHPS	ELP2	ZSWIM6	CHD8	CDK13	ASH1L
HP_PUNCTATE_KERATITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PUNCTATE_KERATITIS	GJB2	PERCC1	NLRP1	EPCAM	PLEC	GJB6
HP_ABNORMAL_STERNAL_OSSIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_STERNAL_OSSIFICATION	SOX9	NFIX	LETM1	CPLX1	FIG4	FGFRL1	CD96	CTBP1	ORC1	NSD2	VAC14	ORC6
HP_ABNORMAL_ILIAC_WING_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ILIAC_WING_MORPHOLOGY	IDUA	CREBBP	TRPV4	FLNA	SOX9	VANGL1	FUZ	EP300	ARSB	CTSK	SEC23A	MATN3	BGN	ZBTB20	RPS6KA3	PCNT	COL2A1	TRIP11	B3GALT6	GPC4	AIFM1	RIPK4	HDAC6	IHH	GPX4	NANS	WNT7A	GNPTG	PHEX	MEG3	RNU4ATAC	RAB23	ERCC8	GLB1	GNPTAB	RTL1	SMAD4	EED	MMP13	GPC3	RUNX2	GATA1	DDR2	DLK1	EZH2	FGFR3	SEC24D	PEX5	GALNS	FN1	ERCC6	EIF2AK3	TMEM251	CCBE1	TBX15	COL11A2	NKX3-2	PLEKHM1	EVC2	DYM	LAMA5	VPS33A	TRAPPC2	EVC	PTH1R	AMER1	ATP7A
HP_ABNORMAL_PLATELET_FUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PLATELET_FUNCTION	ITGB3	ITGA2B	WIPF1	LZTR1	GP1BB	RASGRP2	VWF	HPS3	CISD2	GP9	NRAS	GP1BA	GATA1	GNAS	CBL	CALR	RRAS2	NBEAL2	FLI1	GFI1B	GUCY1A1	WAS	RUNX1	HPS6	SOS2	KRAS	LYST	BLOC1S3	SLC35A1	BLOC1S5	PTPN11	SPRED2	SAMD9L	TBXA2R	KCNJ1	RRAS	MRAS	DTNBP1	MYH9	RIT1	EPHB2	MGAT2	SOS1	RASA2	IKZF5	AP3B1	ABCG8	SH2B3	HPS5	PLA2G4A	RAF1	LCP2	THPO	P2RY12	PLAU
HP_IMPAIRED_RISTOCETIN_INDUCED_PLATELET_AGGREGATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_RISTOCETIN_INDUCED_PLATELET_AGGREGATION	ITGB3	GP1BA	IKZF5	ITGA2B	GP9	GP1BB
HP_ABNORMAL_PLATELET_VOLUME	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PLATELET_VOLUME	CDC42	GP1BA	SKIC2	GP1BB	SLC35A1	FYB1	CD36	ITGB3	GP9	WAS	SKIC3	ACTN1	TUBB1	ITGA2B	MYH9	DIAPH1	GATA1	ABCG8	FLNA	TUBA8	FLI1	PRKACG	GFI1B	ARPC1B	LBR	SC5D
HP_ABNORMAL_PLATELET_MEMBRANE_PROTEIN_EXPRESSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PLATELET_MEMBRANE_PROTEIN_EXPRESSION	GP1BA	ITGA2B	ITGB3	GP9	GP1BB	SLC35A1
HP_ABNORMAL_PLATELET_GRANULES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PLATELET_GRANULES	IKZF5	HPS6	BLOC1S5	AP3B1	HPS3	HPS5	HPS4	NBEAL2	GFI1B	SLC35A1	LYST	RUNX1
HP_ABNORMAL_UMBILICAL_STUMP_BLEEDING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_UMBILICAL_STUMP_BLEEDING	FGB	F2	F13A1	FGA	FGG	F13B	F10	SERPINF2
HP_HEMORRHAGE_OF_THE_EYE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMORRHAGE_OF_THE_EYE	BEST1	LRP5	ABCC6	NDP	RS1	IKBKG	BAP1	GCDH	HMCN1	DST	ATOH7	ATP6V1E1	COL4A1	GNAQ	IFNG	APOE	ERCC8	SBDS	ZNF408	PROC	DNM2	SF3B1	ATP6V0A2	ERCC6	FZD4	RANBP2	CFHR3	ENPP1	ARPC1B	LAMB2	XYLT1	CAPN5	ATP6V1A	GNA11	EFEMP1	TSPAN12	MYD88	TERT	TREX1	CFI	ZEB2	RB1	TERC	XYLT2	CFH	CYSLTR2	PRF1	CTNNB1	CFHR1
HP_BLEEDING_WITH_MINOR_OR_NO_TRAUMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLEEDING_WITH_MINOR_OR_NO_TRAUMA	LMAN1	F13A1	KRT1	F13B	SLC37A4	F8	MCFD2
HP_PROLONGED_BLEEDING_FOLLOWING_PROCEDURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLONGED_BLEEDING_FOLLOWING_PROCEDURE	ITGB3	LMAN1	RBM8A	F2	GP1BA	F13A1	ITGA2B	F5	F13B	GP1BB	SLC37A4	VWF	FGG	F10	GP9	MCFD2	F11	FGB	F8	RACGAP1	DIAPH1	IKZF5	KIF23	FGA	SERPINE1	GFI1B	F7	P2RY12
HP_POST_PARTUM_HEMORRHAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POST_PARTUM_HEMORRHAGE	F8	IKZF5	F2	RACGAP1	F13A1	KIF23	SERPINE1	F5	F13B	F10	F7	DIAPH1
HP_ABNORMAL_LEUKOCYTE_COUNT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LEUKOCYTE_COUNT	MDM4	FOXP3	EOGT	EXTL3	IRF2BP2	WIPF1	ANKRD26	FANCB	ABCD4	MECOM	RASGRP1	TRNT1	FBXL4	UBE2T	FIP1L1	SAMD9L	IFNGR1	LIPA	ZNF699	HAX1	STK4	DOCK8	TCF3	PRF1	IPO8	DOCK2	TET2	CYBC1	ADAMTS3	RAB27A	RMRP	RPS24	DNASE1	POMP	LAMTOR2	FCHO1	AP3D1	IL7R	NSMCE3	RAC2	ASXL1	JAK2	PIK3R1	CASR	STAT5B	RAG1	RPS27	BTK	ADH5	ADA2	IL1RN	CD4	HMGCL	RPS28	RECQL4	DOCK6	IKZF3	RAG2	TCIRG1	CD247	NFKB1	RFXANK	DNMT3B	FANCC	UNC119	BCR	TINF2	VPS33A	PCCB	PALB2	FCGR3B	BLOC1S6	MAGT1	RPS29	IGHM	BRCA2	LRBA	NOTCH1	RPL35A	SOCS1	USP8	FDX2	RPL26	LEPR	MEFV	KNSTRN	STAT3	PGM3	TBXAS1	IL6ST	FNIP1	NLRP12	XIAP	CPA1	RNASEH2B	FOXN1	RFXAP	RAD51C	GINS1	LBR	WAS	GTF2E2	CD8A	REL	IRAK4	FANCF	CTLA4	CAPN3	MAD2L2	SMARCAL1	SLC37A4	CHD7	ICOS	FANCA	PCCA	ACP5	HBB	CTNNBL1	LCK	SLC35A1	CDH23	SCARB2	MMUT	TERT	BRIP1	CD3D	USP48	BCOR	XRCC4	USB1	MPL	EFL1	CD19	SPI1	PNP	RFWD3	PTEN	TOM1	SRP54	IL6R	TFR2	JAK3	PML	PIK3CD	CASP10	ATRX	SREBF1	IKBKG	CARD11	STAT4	TLR7	UNC13D	PTPRC	IKZF1	BLNK	CLPB	DDX41	ADA	RFX5	LYST	SKIC3	ISCU	IFIH1	NBN	CASP8	IL7	SRSF2	IL37	PKHD1	SPRED2	ALG12	GSS	SAMD9	CDCA7	BRCA1	TBK1	BCL10	SBDS	MYC	VPS45	RBPJ	ZBTB24	ARHGAP31	SALL4	ZAP70	SLC35C1	GBA1	CTRC	FANCI	CSF3R	TRAF3	RPS19	PI4KA	SP110	HELLS	ITK	SLC39A7	TRAC	TLR8	VPS13B	SLC7A7	BLM	CARD9	LCP2	RPS15A	ZNF341	AK2	NCKAP1L	ATP6AP1	RPS7	FUT8	RIPK1	IRAK1	WDR1	ATM	MICU1	PRKCD	SPINK5	NLRP3	IFNG	PRSS1	DCLRE1C	TCN2	CORO1A	MTRR	MMAB	GATA1	TTI2	ERCC4	JAGN1	SH2D1A	MCM10	FERMT3	CARD10	ABL1	NFKB2	GATA2	NDUFA6	JAK1	RPL18	ZPR1	PRDX1	FBXW7	ARHGEF1	RHOH	NUMA1	LEP	CXCR4	NHEJ1	MSN	MTHFD1	UNC93B1	HLA-DPB1	FAS	GFI1	EIF2AK3	LIG1	CIITA	DCLRE1B	FCGR2B	IL2RG	LACC1	TFRC	MMACHC	SF3B1	KIT	STAT1	IRF8	CD40	LMNB2	RPS26	HSCB	FANCD2	PDGFRB	CCBE1	PRSS2	FAT4	ATP6AP2	PPIL1	ERCC6L2	HYOU1	ITGB2	DLL4	IL21	TP53	CD79A	TGFB1	TDP2	FANCE	TONSL	CD3E	G6PC3	HLA-DRB1	IL36RN	OSTM1	BCL11B	PSMB9	STXBP2	MMAA	UROS	TERC	RPL15	TPP2	GTF2H5	AP3B1	RPL11	PDGFRA	PRKAR1A	STX11	TICAM1	LMBRD1	SLC46A1	RPL27	CFTR	STING1	TREX1	MYSM1	PLCG2	LAT	MPLKIP	SYK	BACH2	SLC27A4	SARS2	SPP1	PTPN22	RPS10	RBCK1	FASLG	PACS2	RRAS2	TBX21	DKC1	AGA	RARA	RNU4ATAC	ETV6	CD79B	TTC7A	CR2	TNFRSF13B	EPG5	XRCC2	RPL31	STAT2	RPL5	ELANE	PIK3CG	B2M	ERCC3	TBX2	RTEL1	HTRA2	SGPL1	NABP1	OAS1	MVK	ZBTB16	ELF4	TLR3	LIG4	G6PD	TNFAIP3	FCGR2A	FMO3	SPINK1	COG4	RBM8A	SKIC2	IVNS1ABP	TARS1	TSR2	CTPS1	FOCAD	IKBKB	BRAF	IL2RB	NPM1	ITCH	NLRP1	PRIM1	NR3C1	DNAJC21	CDC40	TAFAZZIN	CARS1	NHLRC2	SEC61A1	RUNX1	RPS17	LRRC8A	IVD	CUBN	RPS20	CDSN	CASK	ERCC2	RNF113A	CALR	CAMK2B	PIGA	UBE2A	FANCM	CXCR2	LPIN2	SLX4	SASH3	TNFRSF13C	PSMB4	FANCL	DEF6	OTULIN	MYD88	ATP11A	SMARCD2	ZNFX1	AMN	CBL	MS4A1	ARPC1B	CD81	FANCG	CD40LG	IL2RA	TNFSF12	RPL35	CD3G	OTUD5	RPS14	TNFRSF1A	IGLL1	NRAS	ANAPC1	ACAT1	BTNL2	TBL1XR1	RAD51	FIBP	CA2	KRAS	RPA1
HP_ANEMIA_DUE_TO_REDUCED_LIFE_SPAN_OF_RED_CELLS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANEMIA_DUE_TO_REDUCED_LIFE_SPAN_OF_RED_CELLS	FOXP3	SLC4A1	FCGR2B	PNP	RHD	CFI	EPB42	WIPF1	EPB41	HMOX1	RASGRP1	ACP5	NFKB1	SPTA1	STAT1	HBA1	GSS	CFH	IRF2BP2	RFXAP	GPI	CYBC1	GATA1	ADAR	DNASE1	THBD	KDM6A	IFIH1	CFB	GP1BA	ADAMTS13	PI4KA	SPTB	KCNN4	RAG2	HLA-DRB1	ATP7B	SLC2A1	UROS	RFXANK	TPP2	CD46	HBG2	ZAP70	HBA2	PGK1	LRBA	SOCS1	NT5C3A	TREX1	LAT	ICOS	RAG1	SLC19A1	HBB	PGM3	KLF1	PKLR	SPP1	PTPN22	FASLG	WAS	RNU7-1	RHAG	ATP11C	CTLA4	PIEZO1	GALT	TTC7A	CR2	ABCB6	PSMG2	CD19	DGKE	TNFRSF13B	GPX1	PIK3CG	CD247	CASP10	FAS	STAT4	CFHR3	UROD	ADA	RFX5	CFHR1	GNB2	PRKCD	NBN	G6PD	TNFAIP3	FCGR2A	PIGT	KMT2D	CPOX	RHCE	ALDOA	BCL11A	CDAN1	TPI1	IL2RB	PFKM	HELLPAR	NLRP1	NHLRC2	HBG1	ALAD	ITK	FECH	TLR8	COL4A1	TNFRSF4	LCP2	LCAT	CASK	GCLC	NFKB2	IRAK1	PIGA	STAT3	TNFRSF13C	DEF6	ANK1	MS4A1	STIM1	CD59	CD81	TOM1	GYPC	CD40LG	IL2RA	TNFSF12	CD3G	NRAS	HK1	AK1	C3	GSR	BTNL2	ABCG8	CIITA	KRAS
HP_NEUTROPHILIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEUTROPHILIA	TICAM1	TRAF3	TLR3	TBK1	MEFV	PIK3CD	OTULIN	KIT	IL1RN	UNC93B1	ZNFX1	SRSF2	SLC35C1	TET2	ASXL1	IRF8	IL36RN	MVK	CSF3R	RAC2
HP_ABNORMALITY_OF_CIRCULATING_FIBRINOGEN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CIRCULATING_FIBRINOGEN	PML	UNC13D	STAT5B	XIAP	ANK1	IRF2BP2	LYST	CD46	CFI	SPTB	EPB42	FIP1L1	NPM1	HELLPAR	STAT3	NGLY1	FGG	RARA	NABP1	PRF1	ZBTB16	FGB	NUMA1	STXBP2	GNA14	STX11	SLC37A4	NLRC4	BCOR	MCM10	HAVCR2	TBL1XR1	CFH	SLC7A7	SLC4A1	FGA	PRKAR1A	AHCY	ITGB2	SPTA1
HP_ABNORMAL_HEMOGLOBIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEMOGLOBIN	MDM4	HNF4A	KCNJ11	HBA1	BLM	ATRX	DNAJC3	GCK	CYB5R3	THPO	RPS26	BSCL2	RPL26	HBB	RPS24	KLF1	GATA1	TRMT5	APPL1	NEUROD1	CYB5A	TSR2	KLF11	RPS27	SBDS	BCL11A	CELA2A	ADA2	NSMCE2	HBG2	INS	RPS28	ZBTB7A	DNAJC21	HBA2	HBG1	RPS19	PAX4	RPL15	RPL11	PDX1	RPS15A	RPS29	RPS20	BLK	MTX2	RPL27	NARS2	RPL35A	WRN	CEL	RPS17	RPS10	RPL5	HNF1A	RPL35	YIPF5	ABCC8	EPOR	HBD	MPL	RPS7	RPL18	RPL31	SRP54
HP_PERSISTENCE_OF_HEMOGLOBIN_F	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERSISTENCE_OF_HEMOGLOBIN_F	MDM4	HBB	RPS29	RPS20	RPL27	RPL35A	RPS26	RPL26	RPS17	KLF1	RPS24	GATA1	HBG2	RPS10	RPL5	TSR2	RPS27	SBDS	BCL11A	ADA2	RPL35	RPS28	ZBTB7A	DNAJC21	HBG1	RPS19	RPL15	RPS7	RPL18	RPL11	RPL31	RPS15A	SRP54
HP_ABNORMAL_METACARPOPHALANGEAL_JOINT_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_METACARPOPHALANGEAL_JOINT_MORPHOLOGY	IL2RB	POR	COL2A1	BMP6	GDF5	CHST3	STAT4	ANKRD55	B3GAT3	FLNA	PTPN2	IL2RA	FMR1	GJB6	MAP3K7	COL3A1	PQBP1	HFE	NONO	PTPN22	MYL11	NOG	ASXL1	RNF13	CD247
HP_ABNORMALITY_OF_THE_GLENOID_FOSSA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_GLENOID_FOSSA	DYM	RTL1	LMX1B	SCARF2	DLK1	ORC1	MEG3	TMEM251
HP_CARDIOVASCULAR_CALCIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIOVASCULAR_CALCIFICATION	GATA5	SMAD6	ABCC6	MTX2	SLC20A2	ABCG5	LDLRAP1	STAT1	RNASEH2A	HGD	ABCG8	PDGFB	ERCC8	RNASEH2C	NOTCH1	GBA1	RNU7-1	IFIH1	NT5E	B2M	ERCC6	LDLR	GALNT3	SAMHD1	ADAR	LMNA	TOM1	PDGFRB	ENPP1	FBN1	APOB	ZMPSTE24	TREX1	LSM11	PCSK9	NKX2-5	SLC34A2	RNASEH2B
HP_SHORT_5TH_TOE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_5TH_TOE	DYRK1A	COX4I1	TBX3	RBPJ	EP300
HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_I	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_I	TK2	RARS2	NDUFA9	MIEF2	DGUOK	NDUFC2	NDUFB10	NDUFS4	MTFMT	NDUFAF2	NDUFS3	CARS2	NDUFS6	ACAD9	SLC25A10	NDUFS7	NDUFS2	NDUFAF8	NDUFAF5	NDUFV1	NDUFAF4	EARS2	TSFM	ISCU	TIMMDC1	IBA57	NDUFA11	NDUFA6	MRPS23	NDUFAF6	MT-ND1	NDUFA1	MT-ND3	GFM1	TRMT5	MPV17	NSUN3	MRPS16	SUCLG1	VARS2	PTCD3	QRSL1	SLC25A4	FOXRED1	TMEM126B	NDUFAF3	TRIT1	NDUFB7	MRPL12	TIMM22	NDUFV2	BOLA3	MECR	MRM2	NDUFS8	NUBPL	NDUFB9	NDUFB11	GATC	AARS2	UQCC2	POLG	SLC25A26	NDUFAF1	MGME1	MRPS14	NDUFA12	TXN2	MT-TE	NDUFS1	MT-ND2	GTPBP3	MTRFR	NDUFB3	TRMU	NDUFA8
HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_III	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_III	CYC1	QRSL1	TK2	RARS2	SLC25A4	MIEF2	DGUOK	NDUFS4	CHCHD10	CARS2	UQCRH	TIMM22	BOLA3	EARS2	GATC	TSFM	ISCU	UQCC2	NFS1	BCS1L	LYRM7	MRPS14	GFM1	TRMT5	MPV17	TXN2	NSUN3	MRPS16	SUCLG1
HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_ATP_SYNTHASE_COMPLEX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_ATP_SYNTHASE_COMPLEX	ATP5F1E	TK2	MRPS14	GFM1	TIMM50	ATPAF2	MRPS16	TMEM70	MTRFR	ATP5F1D
HP_SHORT_DIGIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_DIGIT	MGP	MKKS	SEMA3E	COL2A1	MECOM	POU1F1	GDF5	APC2	BHLHA9	CUL4B	HS2ST1	SDHD	IFT43	HOXD13	CPLANE1	ZBTB20	LMNA	GPC4	LBR	ZNF699	EP300	PIGY	BMP4	SMARCB1	RNU4ATAC	LMNB2	PTPN11	RMRP	SALL4	EHMT1	POMP	PRKAR1A	FZD2	MEGF8	TCF12	TRPV4	SEC23B	NSD2	ZMPSTE24	FBXW11	ADA2	SLC26A2	DYNC2H1	KCNN3	DBH	RPS28	CHSY1	DOCK6	STAMBP	FANCC	HNRNPR	ARID1B	TMEM67	KCNJ2	PTH1R	RPS29	CREBBP	TOPORS	JAG1	DVL1	NOTCH1	FGF9	RPL35A	RPS6KA3	TRPS1	CHN1	PIGN	LRP4	NOG	PSMD12	FGFR3	TWIST1	BMPR1B	FGF10	GDF1	RIN2	PIGQ	SCUBE3	GNAS	NKX2-5	BPNT2	C12orf57	FLII	RUNX2	KDM5C	CSPP1	ARID1A	LHX3	BAP1	TRIO	PIK3CA	BBS5	CHD7	MAP3K7	RAI1	ADAMTS17	WAC	GJA5	LTBP3	RECQL4	SPEN	MAFB	SIK1	ALOXE3	DHODH	FBN1	PTHLH	FTO	GNAS-AS1	GATA6	RAD21	LETM1	MYCN	EXOSC2	PIGB	MAF	KDM6A	GABRD	KLF13	EDA2R	GJB3	NBAS	SLC25A24	RPL26	GRM7	HDAC4	MEIS2	ABCC9	KMT2D	MARS1	FLNA	GRB10	WNT5A	RBPJ	ALX3	CDH11	RB1	GPC3	FLT4	TTC21B	CDKL5	FANCI	CCDC32	RAG1	PAH	HESX1	PRMT7	WDR35	PLXND1	MAPK8IP3	CTSK	VAC14	ASXL1	RPS15A	CCDC28B	CCDC22	DVL3	ACAN	IFT122	ZMIZ1	LZTR1	WASF1	NOTCH2	PHF6	FLI1	PGM3	PTEN	SMC1A	IFT140	MCTP2	LZTFL1	DYRK1A	RHOA	KDR	NXN	TCTN3	GJA8	PIGO	DCPS	SOX11	IGF2	KCNH1	SRCAP	COMP	MASP1	IFT80	MAGEL2	FGFR2	TGFBR2	DYNC2I1	PTDSS1	ACVR1	ATP7A	PRKACB	VPS35L	BRD4	PPM1D	GRIP1	HBA1	ACP5	KCNK4	SHOC2	TRIP11	FGFR1	HMGA2	MEG3	IFT52	ARL6	BCOR	CTBP1	GATA1	RRAS2	MBD5	DYNLT2B	WNT4	FGFRL1	TONSL	SLC25A22	MRAS	PIK3R1	GNAO1	CPLX1	SNX14	DLL4	PPP1CB	RAB23	IFT81	HOXA13	FAM20C	MYSM1	CRKL	PTCH2	PIGV	EOGT	SIN3A	TBX22	ARX	FAM111A	SMAD4	BRIP1	WDR19	KDM1A	SLC35D1	ERF	KRAS	INPPL1	IFT172	SUFU	PIGG	DONSON	SMARCC2	BICRA	MAPK1	CEP55	RPL18	CEP120	ALG6	ATP6V1B2	ASAH1	RPL31	HEATR3	ROR2	NIN	TBC1D24	NSUN2	SCN1B	PCNT	STX16	SNRPN	ANTXR2	RPS19	EIF4A3	OFD1	TFAP2B	PRKCZ	SETBP1	CAMK2G	SOX4	EVC2	DLK1	RAD51C	COL11A1	POR	WASHC5	RAG2	PUF60	RPL10	RDH11	HRAS	ALX1	KCNJ8	GLI1	NFIX	NEK1	PGAP2	NEXMIF	RAF1	SHOX	COL10A1	MAP2K1	RPS20	MIA3	CDKN1C	CWC27	TBL1XR1	UBE2T	LIFR	UBE4B	PIGW	RPS17	SMARCD2	EPB41L1	TMEM216	NPR2	MSX2	DPF2	AKT1	NLRP3	TBX15	SLC2A1	NEUROD2	BBS4	EFNB1	FAM149B1	BBS1	PORCN	YY1AP1	EXTL3	KAT6B	IARS2	CUL7	ARSL	KIAA0753	DEAF1	CASZ1	PPP3CA	WIPI2	CANT1	FBXO28	SMARCE1	PIGK	RPS24	COL11A2	DHCR7	HSPG2	RPS27	GLI3	LONP1	TWIST2	BBIP1	SMARCA4	LIG4	ALOX12B	EXT1	GJA1	KAT6A	MED12	RRAS	SLURP1	SCN2A	BMP2	TAF1	RIT1	DYM	LAMA5	ADAMTS10	MTX2	DYNC2I2	ZDHHC9	PCYT1A	PLCB3	TBX3	AP1G1	PTCH1	PRDM16	KNSTRN	SH3PXD2B	PIGF	DMXL2	KIAA0586	RPL5	KIF7	BBS9	ADAMTS2	FANCF	PDPN	PRKG2	INPP5K	CHST11	EVC	PDE4D	FIG4	GATA5	SMARCD1	PDE6D	PAX3	SVBP	SOX9	TBX5	PRKAR1B	CSGALNACT1	SDHB	DYNC2LI1	NRAS	ADA	GNB2	MIR140	GPX4	GMNN	PNPLA6	CNOT2	TASP1	PDE3A	RAC1	ZFPM2	MBTPS1	DNMT3A	ARHGAP31	PITX1	REV3L	SLC35C1	LTBP1	CHST3	B3GLCT	ATRX	FLNB	MGAT2	MMP23B	AFF4	FTSJ1	POLA1	LSS	IFT57	CASK	SIL1	HUWE1	HBA2	RLIM	TLK2	CLCN7	SMARCA2	GGCX	PIGP	BRAF	BRF1	EDA	GATA4	CILK1	POGZ	ALG8	RPS7	SOS1	RSPRY1	SDHC	TBX1	SPART	FANCA	ACTL6B	MYMX	LTBP2	RPS26	POP1	FANCD2	FGD1	IL7R	CBL	SKI	ABCA12	HDAC8	NKX2-6	SIK3	FANCE	MIR17HG	PAPSS2	POC1A	RPL15	IHH	IL2RG	RPL11	CHRNA7	CHRND	CITED2	RBBP8	RPL27	TRIM8	BGN	MACROH2A1	MYMK	SPECC1L	AIFM1	IQSEC2	SLX4	GDF6	LUZP1	PIK3CD	MRPS16	RPS10	NEPRO	CHRNG	AHSG	GHR	KCNAB2	PROP1	PIK3C2A	ZMYM2	TFAP2A	NELFA	HHAT	CSNK2A1	KCNA1	ESCO2	ALMS1	CDC42BPB	RERE	TNNT3	ASPH	BCR	RIPK4	LHX4	SMG9	USF3	ZIC1	TELO2	BRCA2	PLAG1	COG4	UPF3B	RBM8A	SOS2	ITGB6	GJB4	TSR2	SMC3	SPRED2	FN1	EIF2AK3	PDGFRB	KIF15	SF3B4	RASA2	IRX5	PKDCC	ARID2	RAB3GAP2	PALB2	OBSL1	DCLRE1C	DPH2	INTU	NIPBL	KDSR	PGAP3	CRIPT	RTL1	SCNM1	GRIN1	CHRNA1	MTOR	RPL35	COX4I1	PIGS	APC	KLLN	ADNP	PRKACA	KMT2A	PNKP	PIGL
HP_ABNORMAL_SUPERIOR_CEREBELLAR_PEDUNCLE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SUPERIOR_CEREBELLAR_PEDUNCLE_MORPHOLOGY	CEP290	CSPP1	AHI1	ARL3	FLI1	INPP5E	CLCN3	NPHP1	TMEM216	KIAA0586	TMEM67	LAMA1
HP_ELONGATED_SUPERIOR_CEREBELLAR_PEDUNCLE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELONGATED_SUPERIOR_CEREBELLAR_PEDUNCLE	TMEM216	CSPP1	AHI1	KIAA0586	ARL3	TMEM67	INPP5E	LAMA1	CLCN3	NPHP1
HP_HYPOPLASTIC_FIFTH_TOENAIL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_FIFTH_TOENAIL	ARID2	ARID1A	SMARCC2	KRT5	SMARCB1	PPP2R5D	SMARCA4	HOXA13	SET	ARID1B	DPF2	SMARCD1	SOX11	SOX4	SMARCE1
HP_3_4_FINGER_CUTANEOUS_SYNDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_3_4_FINGER_CUTANEOUS_SYNDACTYLY	TP63	CACNA1C	KCTD1	H4C9	GLI3	KAT6A
HP_RESPIRATORY_TRACT_INFECTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESPIRATORY_TRACT_INFECTION	FOXP3	TFG	MGP	ARSB	ZIC2	VPS37D	CTCF	TREX1	PLCH1	SERPINA1	TGIF1	LTBP4	ZNF699	PURA	RSPH3	KCNJ6	SLC41A1	SMARCB1	NODAL	TERT	ADAMTS3	RMRP	EHMT1	GNPTAB	LAMTOR2	FCHO1	AP3D1	IFIH1	CR2	SIX3	NSD2	VPS51	HPS6	GAS8	EPM2A	NAGLU	TCTN3	ASAH1	SGCG	RAC2	MESP2	MBTPS2	DLL1	NFKB1	RFXANK	UNC119	ARID1B	VPS33A	FCGR3B	COL6A2	HK1	DNAH1	PRPS1	MAGT1	CREBBP	ALMS1	REEP1	LMNB1	MYO1E	LRBA	CSF2RB	GBA1	PRTN3	CFAP410	DNAI1	NFKB2	PIK3R1	CFAP221	LEPR	PGM3	MYL2	IL6ST	LYST	FKBP6	SCNN1B	PEX13	XIAP	NPHS1	ZMYND10	FOXN1	RFXAP	ACTC1	RYR1	FOXP1	SULT2B1	CTSC	CD8A	KDM5C	IGBP1	CSPP1	PAX2	ARID1A	REL	MCIDAS	DYM	GAS2L2	EDNRA	TP73	FGF8	ACP5	ACTN4	KIF1A	SLC11A1	CTNNBL1	SLC35A1	WAC	CDON	SGSH	PET117	LTBP3	GLI2	COL4A5	RSPH4A	USB1	CD19	SPI1	PNP	NDN	MIF	SDR9C7	LIPN	GATA4	B3GALT6	CFAP298	CAVIN1	MYPN	TOM1	MAN2B1	JAK3	IGKC	PIK3CD	DPM2	PCGF2	FGFR1	NUP214	GATA6	MANBA	TNFSF11	SNORD115-1	CARD11	SLC52A3	NGLY1	CSF2RA	NCF1	ZBTB24	CLPB	ADA	RFX5	OFD1	NBN	CHAMP1	FUCA1	KMT2D	SRP54	TAPBP	MYO1H	NUP93	SAMD9	MS4A1	CFTR	TNNT2	FCSK	SLC25A1	FLNA	ABCA12	TBC1D24	ZAP70	FLNC	RAPSN	SLC26A9	RAG1	FCN3	DNAAF1	SP110	UMPS	SELENON	TBX1	TNFRSF11A	IGHM	BAZ1B	ZNF341	CCDC22	BTK	NOTCH2	WDR1	EP300	SMPD1	RPGR	FLI1	FOXH1	EIF4H	CFB	IL17RA	TYK2	JAGN1	SHH	PAK2	SH2D1A	SCN10A	EFL1	NXN	ITGA7	CARD10	DLL3	SOX11	TCF3	CCDC103	CD2AP	MAGEL2	TTC12	CCNO	TGFB1	FBXW7	ARHGEF1	ELP1	SYT2	PEPD	CXCR4	PKHD1	NKX2-1	MSN	PLCG2	PRKCD	DISP1	SIM1	CCDC39	ASPRV1	CIITA	NCF4	COL6A1	P4HTM	HLA-DQA1	ERCC6	DNAJB13	STIL	SNRPN	GATA2	ANLN	SCNN1G	TRIP11	GRHL3	STAT1	MKRN3	IRF8	MALT1	TIMM8A	PLG	METTL27	HYOU1	SATB1	INPPL1	DCLRE1C	CD79A	CLCA4	CLEC7A	KATNIP	TONSL	PEX5	NPHS2	CD3E	COL11A2	RAG2	H4C3	TNFRSF13B	MYOD1	ARHGDIA	G6PC3	FBLN5	PTPRO	CPLX1	IL2RG	IFNG	FOXJ1	SLC5A7	NME8	TPP2	PMM2	GTF2H5	NME5	AP3B1	ACADVL	DNAH11	ODAD2	CRB2	SDHD	NUP37	BCL7B	SLC46A1	PPP1R21	IDS	HLA-B	KIF20A	TRIP4	MYH3	MYSM1	CRKL	LAT	EFEMP2	INF2	ICOS	ANKFY1	NEK10	HYDIN	NKX2-5	NCF2	SPEF2	RAC1	COG6	KAT6B	TMCO1	ERF	TRPS1	IL10RB	NECTIN1	NHLRC1	DNAAF2	PIGG	STX3	RNU4ATAC	TAOK1	SAMD9L	IL17F	HERC2	UGP2	SMARCC2	DNAAF5	PIGN	TTC7A	MAPK1	DSG1	GSN	HGSNAT	CD3D	OCA2	ERCC3	ELN	TBX6	GAA	PCNT	CD55	BLNK	LAMB3	HLA-DQB1	COLQ	SLC18A3	MYO5A	KPTN	TIMMDC1	WAS	SLC29A3	GLB1	SETBP1	TSC1	SLC1A4	SOX4	SBDS	EGFR	CYBB	WASHC5	CTPS1	FOCAD	SCNN1A	SLC35C1	SMN1	TAFAZZIN	COL4A6	TDGF1	CARS1	BUD23	NFIX	BIRC3	CD79B	SNAP25	RSPH1	SNAP29	PYROXD1	ALOXE3	SLC25A24	NIPAL4	CTLA4	TYMS	HMOX1	DOCK8	LONP1	DNAH9	MYL9	RNF113A	TAP1	DNAAF11	CD27	KRT5	LAMB2	TPM3	UBE2A	RNF168	DNAI2	STAT3	SASH3	GAS1	TTC26	SMARCD2	ZNFX1	DPF2	ADA2	ARPC1B	WDR35	CD81	DDR2	CD40LG	USP9X	DNAAF3	IL2RA	LAMA3	IDUA	TCIRG1	GALNS	CD3G	TECPR2	TNFRSF1A	SLC37A4	IGLL1	ORC6	PTCH1	NUP133	LRIF1	IL17RC	TNFSF12	CTBP1	ODAD1	COL5A1	PSAP	GUSB	MDM4	UBA2	WIPF1	IL12RB1	AASS	IFT122	RASGRP1	POLA1	ARSL	CITED2	IFNGR1	DOCK2	IDH1	CYBC1	FBXO28	CHRM3	EXTL3	STK36	PLOD1	MTM1	DRC1	IFT140	IL7R	LRRC56	TSC2	CFAP300	DZIP1L	ASXL1	C4B	CACNA1B	GLI3	SMARCA4	CCDC65	CD4	TBC1D23	ALOX12B	PARN	KAT6A	WT1	CD247	MASP2	DNMT3B	EDARADD	ODAD3	CEACAM6	PHIP	FCGR2A	DNAH5	SH3KBP1	ALG12	SPAG1	MLXIPL	NDUFC2	SOCS1	MAGI2	TRAF3IP2	GCLC	ATP6V0A2	RSPH9	NUP205	KNSTRN	HLA-DPB1	IKZF1	AGA	KIAA0586	TPM2	TBCE	CTC1	GTF2E2	POLR3A	HFE	FANCF	TGM1	NPM1	MDFIC	LCK	RUNX2	TRPC6	ATP6V1B2	CLIP2	HACD1	FCGR3A	FIG4	PRKDC	NEU1	LEP	ZNHIT3	SMARCD1	MID1	ALB	ROR2	RANBP2	IL6R	TNNI3	ACTA1	COL6A3	SOX9	AICDA	SREBF1	SLC25A22	UBB	COL13A1	STXBP2	IL21R	PWRN1	SPTBN4	CARMIL2	MIR140	WRAP53	CASP8	CFI	PWAR1	KCNN4	GMNN	ODAD4	POLE	DNAAF6	CDCA7	EPG5	ATP6V0A1	TASP1	PIGA	COQ8B	CHAT	COG4	CLCN7	DYNC2I2	PTPN22	HELLS	MGAT2	TK2	MECP2	SLC6A14	SPINK5	BLM	AFF4	RIPK1	ATM	SNX10	PKP1	NTRK1	CORO1A	CRLF1	NUP107	NFASC	SMC1A	RNF125	SMARCE1	OCRL	PTCD3	SMARCA2	NDUFA6	UQCRH	HLA-DPA1	IRF2BP2	P4HA2	CEACAM3	STX1A	MTHFD1	VARS1	PLA2G6	LIG1	TERC	TBX20	MAP3K20	ITCH	CYP4F22	ITGA3	TFRC	TNFRSF13C	COL5A2	RELB	DDX59	PANK2	DNAAF4	ALDH18A1	PLEC	CCBE1	DIP2B	LTBP1	FAT4	SLC9A3	KDM6A	TBC1D8B	ECM1	IL21	GFI1	NHP2	TAP2	HLA-DRB1	GTF2IRD1	GNS	NOP10	CYBA	CHD7	SDCCAG8	TMEM94	TINF2	CACNA1C	RTEL1	SLC34A2	NFE2L2	NOS1	ALPL	TRAIP	GLUL	NFKBIA	TLL1	GRIA1	EMP2	VAMP1	GAPVD1	STING1	LETM1	LAMA2	PSMB8	MPLKIP	APOL1	SYK	ABCA3	BACH2	TBCD	DCTN4	RFC2	NADK2	SCN11A	SCN9A	TBL2	GEMIN4	TRIM37	NEPRO	GTF2I	SIK1	MCM4	SIAH1	NELFA	MYO9A	EXOSC9	ELANE	PIK3CG	B2M	DNAJC30	NPAP1	SLC12A6	BCR	NOTCH2NLC	NIPBL	IER3IP1	OAS1	ELF4	DNAL1	H4C5	STAG2	SNORD116-1	FMO3	CCDC40	AK2	WDR19	COL4A3	SUCLG1	IVNS1ABP	PLCE1	TARS1	IRAK4	DKC1	IL2RB	GIPC1	PDHA1	LIG4	ZBTB7A	SLC26A2	UNG	NHLRC2	SHROOM4	LRRC8A	OSTM1	IKBKB	ARID2	RAB3GAP2	GSTM3	ERCC2	GORAB	MYH6	NUP85	LAMC2	C3	AGRN	KANSL1	POLR2A	DNAJC21	GTF2IRD2	LIMK1	IGHG2	TMEM270	FUZ	BCL10	TAF1	SFTPC	NUP160	TET2	PLP1	MED25	NRAS	SFTPB	ADNP	ARHGAP24	KRAS	PAFAH1B1	DAAM2
HP_RECURRENT_ACUTE_RESPIRATORY_TRACT_INFECTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_ACUTE_RESPIRATORY_TRACT_INFECTION	SDCCAG8	TAP2	ALDH18A1	TAPBP	REEP1	SLC35C1	PLCG2	PLEC	ELN	FBLN5	GBA1	TAP1
HP_ACUTE_INFECTIOUS_PNEUMONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_INFECTIOUS_PNEUMONIA	CFTR	SCNN1G	CSF2RA	CSF2RB	SCNN1A	SCNN1B
HP_ASPIRATION_PNEUMONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASPIRATION_PNEUMONIA	DISP1	HLA-DQA1	TFG	TBC1D24	MAP3K20	FGFR1	ZIC2	STIL	UBB	PLCH1	NOTCH2NLC	GRHL3	TGIF1	DLL1	HLA-DQB1	PANK2	PURA	SHH	SMARCB1	GAS1	NODAL	GLI2	CDON	STAG2	TIMM8A	PTCH1	KDM6A	KMT2D	SOX4	TDGF1	SIX3	MYO1H	SAMD9	EPM2A	FGF8	ATP6V0A1	ASAH1	PIGA	SMARCA4	GIPC1	PDHA1	AFF4	COL4A6	KAT6A	NFIX	FOXH1	SP110	SELENON	PMM2	SNAP29	ARID1B	SLC25A24	SDHD	NOS1	LONP1	ARID2	TPM3	NTRK1	CRLF1	KNSTRN	MYL2	PIK3CD	GLB1	SMC1A	KIAA0586	DPF2	TPM2	ITGA7	NADK2	SMARCE1	SOX11	IGBP1	CSPP1	PTCD3	ARID1A	NDUFA6	NHLRC1	ACTA1	TAF1	COL4A5	LMNB1	ATP6V1B2	SMARCC2	HACD1	LRIF1	PIGN	FIG4	PLA2G6	SMARCD1	MID1	PAFAH1B1	GBA1
HP_RETINAL_PERFORATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_PERFORATION	CTNNB1	GUCY2D	GUCA1A	LRP5	PRPH2	HLA-A	FZD4	COL2A1	NDP
HP_SUBSTANTIA_NIGRA_GLIOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBSTANTIA_NIGRA_GLIOSIS	ATXN8OS	GLUD2	MAPT	NR4A2	LRRK2	ATXN2	FBXO7	ATXN3	PRKN	MT-TT	TBP	ADH1C	SNCAIP	GBA1	SNCA
HP_NON_OBSTRUCTIVE_AZOOSPERMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NON_OBSTRUCTIVE_AZOOSPERMIA	NANOS1	GNRH1	HS6ST1	CCDC34	PNLDC1	TEX15	SYCE1	SHOC1	KLHL10	DAZ3	DAZ2	TAF4B	C14orf39	PROK2	CHD7	ZMYND15	DUSP6	NR5A1	TSPY1	MSH4	MSH5	SYCP3	FGF8	WDR11	XRCC2	MEIOB	FGFR1	KISS1R	SPRY4	USP9Y	TERB1	TDRD9	TACR3	TERB2	TEX11	FGF17	RNF212	TAC3	MOV10L1	NSMF	SOHLH1	DAZ1	FANCM	RBMY1A1	GNRHR	KISS1	CFTR	DDX3Y	PROKR2	STAG3	ZSWIM7	DAZ4	TEX14
HP_OBSTRUCTIVE_AZOOSPERMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OBSTRUCTIVE_AZOOSPERMIA	NR5A1	TDRD9	CCDC34	ADGRG2	TEX15	PNLDC1	CFTR	CLDN2	NANOS1	TEX11	SYCE1	SYCP3	KLHL10	TAF4B	TEX14	XRCC2	C14orf39	ZMYND15	SOHLH1	MEIOB	FANCM
HP_ABNORMAL_CIRCULATING_CITRULLINE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_CITRULLINE_CONCENTRATION	SLC25A15	AASS	MT-ATP6	MT-TW	SLC25A13	MT-ND1	ASS1	MT-TV	MT-ND2	MT-ND4	MT-TK	CPS1	MT-TL1	MRM2	SLC7A7	OTC	MT-ND5	MT-ND6	PCK1	MT-ND3
HP_DECREASED_CIRCULATING_COPPER_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_COPPER_CONCENTRATION	COG2	SLC33A1	AP1S1	ATP6AP1	AP1B1	TMPRSS6	CP
HP_FEEDING_DIFFICULTIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEEDING_DIFFICULTIES	FOXP3	FGF8	TFG	FKRP	MN1	ZIC2	SEMA3E	POU1F1	YARS1	CHRND	HS6ST2	CTCF	SPATA5	HS2ST1	OPA1	EEF1A2	CDKL5	PLCH1	CPLANE1	HECW2	ARHGAP29	TGIF1	LTBP4	ZNF699	OTX2	GABRA5	KCNQ5	CPT2	SERAC1	CHRNA1	PURA	ALDH7A1	PIGY	SMARCB1	ASXL3	SPG11	NODAL	RTL1	NDUFB11	PTPN11	SETD2	ADAR	RYR1	AP3D1	KLHL7	PGAP1	CDT1	IFIH1	NDUFAF2	SIX3	PEX14	SPOP	CLCNKA	GSX2	EDEM3	VPS51	EPM2A	TCTN3	GP1BB	WDR26	MYH8	AVPR2	TPM2	PDE10A	NTRK2	MBTPS2	ANKRD11	WAC	COX16	PDGFRA	DYRK1A	TMEM237	HADHA	DLL1	PEX16	SLC25A1	CFL2	SKI	UNC80	CSPP1	HNRNPR	NDUFAF8	HNF1A	ARID1B	HOXB1	ZBTB18	GUF1	COL6A2	HK1	CREBBP	NRCAM	POLR3A	TOP3A	CDC6	STAG1	TPO	TOPORS	SATB2	VPS4A	POMT1	ERCC5	CACNA1A	LMNB1	EXOSC9	CARS2	HSD17B4	BCKDHA	RPS6KA3	PSMD12	GLE1	MECR	YWHAG	KAT6B	GALC	TMEM218	ERGIC1	ERCC8	TSEN54	GLRX5	MACF1	TCF20	MYL2	CLTC	GATA6	LINGO1	PEX13	NDUFA1	FLII	MECP2	MCCC1	UBE3A	NCAPG2	ATAD3A	KMT2A	CHRNE	DPH5	RNU7-1	ARID1A	MKS1	PEX3	CHKA	LHX3	BAP1	TRIO	UBA5	BRPF1	HLCS	CHD7	NDUFV2	SOX5	KIF1A	RAI1	GNB1	CDON	SMC1A	SLC30A9	SUFU	HPCA	GLI2	GRIA4	COL4A5	MMUT	ASNS	MOCS1	SUPT16H	ASL	CTBP1	DHCR24	TRRAP	SCYL2	GABRA2	NDN	B3GALT6	CAVIN1	TOM1	PPP1CB	STAC3	EXOSC3	DPM2	RAD21	PCGF2	LAMA2	RHBDF2	NDUFS4	FGFR1	NUP214	PAX8	SNORD115-1	PIGB	SRPX2	EZH2	DHX30	KDM6A	AGTPBP1	GABRD	FGF12	PLA2G6	ADNP	TSHR	GALNT2	SCN3A	MEIS2	CHAMP1	HNRNPK	GSC	ALG11	KMT2D	ARSA	PNPT1	LMNA	FOXG1	SYT1	MYO1H	RNF13	CLPB	COX10	FARSB	UBE3B	DHFR	TSEN2	THOC2	GOT2	EFTUD2	ACTB	SLC9A6	FCSK	IBA57	GRB10	TBC1D24	MEG3	GMPPB	SURF1	RAPSN	CISD2	CCDC32	COLQ	SCNN1B	NAA15	TNPO2	SELENON	PREPL	GPT2	PLXND1	VPS13B	SLC7A7	POLR1B	ALDH4A1	HCN1	COG7	NDUFS1	MRPL3	ASXL1	BIN1	CCDC22	PAX2	DGUOK	ZMIZ1	NR3C2	SEC24C	LZTR1	TRAF7	WASF1	YIF1B	PHF6	RPGRIP1L	MOGS	STRADA	PIEZO2	SDHAF1	FLI1	PIGG	SON	FOXH1	BSND	PEX10	SHANK3	EDN1	NDE1	MTRR	DNM1L	MMAB	DBT	IL17RA	FKTN	NLRC4	SHH	IFT140	SCN1A	SNX10	TCTN2	ATP6V1A	SLC13A5	ITGA7	PDSS2	PIGO	PSPH	SOX11	SNRPN	BRAF	ZNF462	MAGEL2	PSAP	CARS1	POLR3K	IGF2	NDUFAF3	SDHD	ARV1	KIF5A	PRDX1	FBXW7	CASR	LIAS	DUOX2	ELP1	MED23	HNRNPH1	TRAPPC11	SYT2	FLCN	GRM7	FZR1	SYNJ1	SYNE1	PKHD1	HBB	SLC1A2	GALT	FDFT1	DISP1	SIM1	ETHE1	PNPO	ATP7A	CNOT3	COL6A1	BRD4	PPM1D	SLC26A4	WARS2	KATNIP	HACD1	CASK	CPSF3	STIL	KCNK4	MMACHC	ITPA	SCN8A	GCDH	CENPT	TSHB	QRICH1	GRHL3	MKRN3	NSD1	HMGA2	NECAP1	MYMK	KMT5B	MAP3K7	SIK1	BCOR	ERCC6	FGF13	SSR4	RRAS2	ATP1A3	INPP5E	ATPAF2	MBD5	SYNGAP1	TBX1	ARMC9	AIFM1	TUBB6	ORC6	SLC18A3	TGFB1	UFM1	UBTF	CLEC7A	AQP2	DHDDS	NEB	NDUFS8	HCCS	CCDC47	H4C3	BCKDHB	PI4KA	SHOC2	LIPT2	UCP2	AHDC1	MRAS	ARX	TP63	HADH	PEX1	SLC5A7	FANCL	SLC16A1	DLAT	PMM2	CNP	PRKAG2	OTUD6B	ACADVL	MAP2K2	BICD2	HIBCH	BCL11B	GRIN2D	DPAGT1	EXOSC8	EXOSC5	CHMP1A	FAT4	PEX6	LMBRD1	PMPCB	PPP1R21	ECHS1	GPHN	PEX19	NR4A2	HNF1B	TRIP4	MYH3	SUZ12	ABCD1	GTPBP3	RERE	PIGV	TRPV6	EN1	SIN3A	FUS	PPP3CA	DLK1	CPLX1	ARCN1	RAC1	GFM1	MED27	KDM1A	TMCO1	HRAS	DLD	SMARCC2	KRAS	SLC46A1	WDR73	ALG3	NHLRC1	HDAC8	MED12	GABRB2	BRAT1	AP1S2	LYRM4	ALG13	MLXIPL	CCDC88A	ATP1A2	TAOK1	NDUFB9	IL17F	MARS2	HERC2	UGP2	MSX1	RAB3GAP2	PIGN	POMK	GLRA2	GMNN	BICRA	MOCS2	CEP120	PQBP1	TMEM67	ALG6	NKX2-5	ASAH1	GBA1	NDUFB3	OCA2	SCN4A	KLHL41	KRT6B	STT3B	ELN	SH2B1	ATRX	KCNA2	PLAA	NDUFS2	NOVA2	ST3GAL5	STT3A	ANTXR2	NDUFAF5	DMPK	PEX11B	LRP4	DTYMK	GNAI3	PRMT7	ODC1	ACTN2	TIMMDC1	HIRA	PPP2CA	EIF4A3	PRKCZ	SETBP1	SDHB	ANO1	PEX12	VRK1	COQ9	SLC1A4	MT-ND3	TOGARAM1	MTO1	SETD5	ALDH6A1	POMT2	PPP2R1A	SOX4	B9D2	MED17	WASHC5	EMG1	ARVCF	CLCN4	FOCAD	PUF60	ALG2	ORC1	COG1	COL4A6	TDGF1	FRMD5	DCHS1	RRM2B	NFIX	FARS2	CRLF1	SNAP25	WWOX	PGAP2	CEP104	NEXMIF	UFC1	SLC25A24	PEX2	KMT2B	RAF1	RELN	MT-ND2	KCNB1	DPM1	MEF2C	NPHP1	LONP1	PARS2	MAP2K1	GNPTAB	AHI1	CDKN1C	NDUFS3	WFS1	CLCF1	CWC27	KATNB1	MICOS13	HESX1	LAMB2	LIFR	TPM3	SCNN1A	NECTIN1	UBE4B	DLEC1	UQCC3	GAS1	SDHA	PIGW	CTNS	ANKRD17	DEF6	ERCC1	ATP6V0A2	EPB41L1	ANK1	TMEM216	TBCK	DPF2	ADA2	PIGU	USP9X	RNF2	MAMLD1	SEC63	CYFIP2	TSPOAP1	ORC4	IDUA	JMJD1C	RNASEH1	FOXP2	RNU4ATAC	PTCH1	CLN8	FAM149B1	ANAPC1	SUCLA2	DLX4	PEX26	ZSWIM6	IL17RC	TRMU	SLC25A19	SLC52A1	UNC45B	SNRPB	SEPSECS	GTF2H5	UBA2	CYP11A1	NDUFB10	NACC1	AASS	SH3BP2	ABCD4	NSD2	HTT	NKX2-1	SAMHD1	ARSL	MTHFS	KIAA0753	DEAF1	DNM1	UGDH	FGFR2	RIT1	ACTA1	FBN1	CASZ1	RNASEH2A	CACNA2D1	CDK19	IPO8	IDH1	TRMT10C	SMARCE1	ACADS	MT-ND1	DPYD	KCNQ2	MTM1	NARS2	NSMCE3	DZIP1L	SUCLG1	UBA1	COX6B1	SLC25A15	COQ7	DHCR7	HSPG2	TCF4	PLAG1	PBX1	CBY1	CHRNB1	TIMM22	SMARCA4	PSAT1	TRAPPC4	NDUFB8	UQCRC2	SCO1	TBL1XR1	TET3	RECQL4	RREB1	NALCN	KAT6A	TTC21B	RRAS	FGFR3	ACTL6B	NUBPL	KDM5B	PHIP	GRIN1	PHOX2B	PCCB	MED12L	ALG12	KBTBD13	GFM2	GFPT1	DYNC2I2	ASXL2	DYNC2I1	VAMP1	SLC6A8	LARGE1	DST	NDUFS7	IYD	ABCC8	YY1	SPTLC1	TRAF3IP2	AGO2	HYLS1	CHAT	TRAPPC12	PRDM16	GMPPA	RMND1	KNSTRN	NDUFA11	PACS1	EHMT1	CDH1	KIAA0586	HDAC4	DUOXA2	LAGE3	RETREG1	APC2	DEGS1	TMEM106B	KIF7	BMP4	PDPN	TGFBR2	CEP41	FOXP1	LRPPRC	FARSA	PCCA	SMARCD1	MYPN	SETD1A	GATAD2B	SCO2	ATP6V1B2	FIG4	KANSL1	ZC4H2	CC2D2A	ZNHIT3	MID1	MT-TE	ENPP1	FOXRED1	ZNF148	H1-4	VPS50	PDE6D	DYNC2H1	COL6A3	SOX9	MYL1	SLC25A22	SPTBN1	UBB	MYO9A	COL13A1	SLC16A2	NUDT2	KMT2E	DYNC2LI1	NAA20	PWRN1	SPTBN4	PRUNE1	NRAS	NDUFV1	ASPA	GNB2	KCNJ11	EPRS1	TG	PWAR1	COLEC10	POGZ	KRT5	FBLN5	DOHH	CNOT2	EPG5	ATP6V0A1	TASP1	TMEM126B	TBC1D20	KCNK9	COG4	REV3L	TSPYL1	PEX5	LTBP1	TSEN34	PANK2	TOE1	ADARB1	B3GLCT	CLCN3	PTS	STX3	CDK13	AARS1	MGAT2	NDUFAF1	TK2	MMP23B	CPT1A	TRAK1	FLNA	TCTN1	BLM	COMT	BPTF	AFF4	CDK8	SLC6A3	POLA1	EP300	LHX1	FUT8	GGPS1	HSPD1	SCNN1G	COQ2	NTNG1	KCNC2	NTRK1	ALS2	PIGT	NAA10	MDH2	NAPB	NFASC	COL25A1	SET	NFU1	COX8A	RLIM	TLK2	OCRL	PTCD3	SMARCA2	NDUFS6	NDUFA6	DPYS	ALDH18A1	MYH7	BTD	AUTS2	NONO	CELF2	SIGMAR1	NDUFAF4	IFT80	FOXE1	ALG8	KDM3B	SOS1	MPDU1	PET100	KRT14	DALRD3	DLG1	TXN2	POLG2	KLHL40	HIKESHI	EIF5A	PHGDH	ADAT3	LBX1	MAP3K20	TP53RK	ITCH	H19	ABCC6	IARS1	RPL10	WDR19	COG5	HIVEP2	COL1A1	DDX59	PLPBP	CLDN16	MCCC2	CACNA1B	CBL	SPEN	MIPEP	PIBF1	AP3B2	SLC12A2	CNKSR2	SIK3	COX7B	COL7A1	PSMC1	SLC25A46	CYP11B2	H4C9	GNS	AARS2	CLCN6	MMAA	MFF	UQCRFS1	IRF6	PTPN23	BCS1L	ACTG1	NFE2L2	PIGQ	IFT172	RARS2	NAGS	CA12	OFD1	CNTNAP2	SLC38A3	GABBR2	IQSEC2	EXT2	RAB11B	TBCD	LUZP1	PRPS1	SARS2	PIK3CD	ATG7	SZT2	GLB1	TH	TREX1	TXNL4A	DDC	MRPS16	RFT1	CLCNKB	DDX6	GEMIN4	PPFIBP1	MTR	ARL13B	NEPRO	GALK1	TUBB3	CNTN1	ATP10A	COL2A1	KCNAB2	PROP1	RALGAPA1	PRKD1	ISCA1	ZMYM2	GAA	PRORP	PRKCSH	CSNK2A1	NPAP1	FKBP14	SLC12A6	ZNF292	SRP54	ADGRG1	CDC42BPB	TANGO2	HTRA2	ATP6V1E1	SRCAP	IER3IP1	LHX4	POLE	ERCC2	SNIP1	NR2F1	TSFM	KAT8	CACNA1I	CAV1	TELO2	H4C5	STAG2	SNORD116-1	SLC35A2	KRT6A	TSEN15	TRMT5	RAC3	C2CD3	SOS2	LRP5	FLAD1	TOR1A	PDHA1	SMC3	ALG14	SPRED2	ZBTB7A	PRIM1	ASH1L	KIF15	KRT17	NHLRC2	EED	KRT16	ATXN7	USP7	SLC5A5	RASA2	GABRG2	SLC5A6	HNRNPH2	MTRFR	RAB3GAP1	ARID2	PYCR2	ARL3	WNK1	CAMK2B	RNF6	AGRN	GRIN2B	POLR2A	NIPBL	NRXN1	CDC45	MSL3	PGAP3	LMOD3	PLCB4	HADHB	SMPD1	MRPS34	FUZ	MTOR	PIGP	SCN9A	AIMP2	DCX	OTUD5	NUS1	PIGS	GNAI1	CUL3	CLTCL1	SHQ1	WDPCP	RPS28	ACSF3	PLP1	GRIA1	B9D1	PRKG2	UFD1	FBP2	CTNNB1	BUB1B	PAFAH1B1	MTHFR	PIGL	TALDO1
HP_ELEVATED_CIRCULATING_LUTEINIZING_HORMONE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CIRCULATING_LUTEINIZING_HORMONE_LEVEL	SRY	CYP11A1	DMRT3	ESR2	POR	FOXL2	GATA4	FIGLA	NR5A1	CYP17A1	MCM8	FSHB	PSMC3IP	MSH4	GDF9	NSMCE2	C14orf39	AR	SPIDR	WWOX	ZSWIM7	DIAPH2	FGD1	WT1	ZFPM2	NR0B1	SOX9	KISS1R	GCNA	XRCC2	PPP2R3C	DHX37	FANCM	STAG3	CYB5A	BMPR1B	VAMP7	MAP3K1
HP_CEREBRAL_AMYLOID_ANGIOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_AMYLOID_ANGIOPATHY	APP	ITM2B	CST3	PSEN2	APOE
HP_HYPOGLYCORRHACHIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOGLYCORRHACHIA	UNC93B1	TICAM1	TRAF3	TLR3	TBK1	SLC2A1
HP_MYELOFIBROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYELOFIBROSIS	SRC	TET2	JAK2	CALR	TBXAS1	TP53	TLR8	SH2B3	MPIG6B	MPL	NBEAL2	GFI1B	SHOC2
HP_ACHOLIC_STOOLS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACHOLIC_STOOLS	BRCA2	PTPN3	DCDC2	HSD3B7	BRCA1	RFX6	CYP7B1	MYO5B
HP_ABNORMALITY_OF_NEUTROPHIL_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_NEUTROPHIL_PHYSIOLOGY	DNAJC21	CYBB	GPI	CEBPE	CYBC1	LYST	NCF2	PMM2	CYBA	EFL1	SRP54	RAC2	SLC35C1	NCF1	LCP2	IRF8	SBDS
HP_ABNORMAL_NEUTROPHIL_COUNT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NEUTROPHIL_COUNT	MDM4	FOXP3	PNP	UNC13D	IRF2BP2	WIPF1	LAMTOR2	ABCD4	TCN2	MECOM	FBXL4	TFRC	MMACHC	SF3B1	KIT	GATA2	FANCA	FIP1L1	STAT1	SAMD9L	IRF8	HAX1	STK4	CD40	TCF3	RPS26	RFXAP	HSCB	TET2	FANCD2	PIK3CD	RAB27A	RPS24	PPIL1	GATA1	AP3D1	ASXL1	STAT5B	CD79A	GFI1	RPS27	RASGRP1	TDP2	FANCE	ADA2	TONSL	IL1RN	RAC2	RPS28	G6PC3	RECQL4	IL36RN	SAMD9	STXBP2	MMAA	TCIRG1	RMRP	RFXANK	FANCC	TERC	RPL15	TPP2	GTF2H5	AP3B1	VPS33A	RPL11	PCCB	PRKAR1A	FCGR3B	STX11	RPS29	TICAM1	IGHM	LMBRD1	RPL27	VPS13B	LRBA	RPL35A	MYSM1	FDX2	MPLKIP	RPL26	PIK3R1	MEFV	PGM3	FNIP1	XIAP	GINS1	LBR	RPS10	FASLG	CIITA	WAS	GTF2E2	PACS2	SLC46A1	IRAK4	TERT	SMARCAL1	SLC37A4	ICOS	PCCA	ACP5	AGA	SLC35A1	RARA	ETV6	CSF3R	MMUT	BCOR	USB1	RPL18	EFL1	SPI1	EPG5	RPL31	SRP54	RPL5	TFR2	PML	ELANE	PIK3CG	ERCC3	CASP10	FAS	ATRX	BLNK	HTRA2	MAD2L2	CLPB	RFX5	NABP1	PRF1	LYST	MVK	ZBTB16	IFNG	TLR3	RAG1	BTK	RPS19	FMO3	COG4	SRSF2	GSS	SBDS	TBK1	TARS1	TSR2	VPS45	NPM1	ITCH	STAT3	SLC35C1	IL6ST	DNAJC21	FANCI	CDC40	TAFAZZIN	TRAF3	CARS1	SEC61A1	CD79B	TLR8	RPS17	LRRC8A	CUBN	RPS15A	RPS20	RPS7	ERCC2	FUT8	RNF113A	CAMK2B	WDR1	UBE2A	PRKCD	CXCR2	SASH3	MTRR	MMAB	JAGN1	OTULIN	SH2D1A	SMARCD2	ZNFX1	AMN	CBL	TOM1	FANCG	RUNX1	CD40LG	NDUFA6	RPL35	PRDX1	FBXW7	CXCR4	IGLL1	NUMA1	NRAS	ANAPC1	MSN	IKBKG	UNC93B1	TBL1XR1	FIBP	EIF2AK3	KRAS	IL7R
HP_ABNORMALITY_OF_NEUTROPHIL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_NEUTROPHIL_MORPHOLOGY	SLC19A1	NBAS	CEBPE	MYH9	TMEM147	TET2	SF3B1	MTHFD1	SMARCD2	AMN	CXCR4	FTCD	RPS14	LBR	CUBN	LYST
HP_IMPAIRED_NEUTROPHIL_BACTERICIDAL_ACTIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_NEUTROPHIL_BACTERICIDAL_ACTIVITY	CEBPE	CYBA	CYBB	GPI	CYBC1	NCF1	IRF8	LYST	NCF2	RAC2
HP_POSTPRANDIAL_HYPERGLYCEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTPRANDIAL_HYPERGLYCEMIA	SHPK	SLC2A2	SCN4A	CACNA1S	INSR	KCNJ18	GYS2	KCNE3	GABRA3
HP_PARANOIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARANOIA	TP53	ESS2	DGCR2	HMBS	PLA2G6	FMO3	DGCR8	BRAF	PRDM8	ATRX	CPOX	USP8	ECM1	NR3C1	IMPA1	CDH23	TBX1	TBP	DGCR6	USP48	TIMM8A	PPOX	SNCA	VPS13A
HP_EEG_WITH_GENERALIZED_POLYSPIKES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_GENERALIZED_POLYSPIKES	CHD2	GRIN2A	FRRS1L	EFHC1	GRN	CNTNAP2
HP_FOCAL_COGNITIVE_SEIZURE_WITH_DEJA_VU_JAMAIS_VU	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_COGNITIVE_SEIZURE_WITH_DEJA_VU_JAMAIS_VU	NPRL2	GAL	RELN	NPRL3	MICAL1	DEPDC5	LGI1
HP_LENS_LUXATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LENS_LUXATION	MOCS1	COL2A1	FBN1	MOCS2	C12orf57	PAX2	COL11A1
HP_RIGHT_AORTIC_ARCH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIGHT_AORTIC_ARCH	PLXND1	ESS2	DGCR2	DNAH1	ACVR2B	DGCR8	CHD7	SF3B2	GDF1	CIROP	WDR26	TTC26	MMP21	TBX1	DGCR6	FLT4	PKD1L1	WT1	STRA6	NKX2-6	CFAP53	DNAH9	CRELD1	TMEM260
HP_HYPERGALACTOSEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERGALACTOSEMIA	GALK1	GALM	GALT	SLC25A13	GALE
HP_LARYNGEAL_EDEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARYNGEAL_EDEMA	XPNPEP2	SERPING1	PLG	EPHB4	HS3ST6
HP_HEPATOCELLULAR_ADENOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATOCELLULAR_ADENOMA	HNF4A	PHKA2	KCNJ11	KLF11	BLK	PHKG2	HNF1A	ABCC8	PAX4	GCK	GNAS	SLC37A4	PHKB	PDX1	INS	APPL1	NEUROD1	CEL
HP_ABNORMAL_URINE_HORMONE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_HORMONE_LEVEL	TP53	NR3C1	PRKAR1A	PDE11A	ARMC5	BRAF	ATRX	PRKACA	ZNRF3	USP8	CDH23	TERT	CYP11B1	PDE8B	GNAS	USP48	CDKN2A	CYP17A1	CDKN1B	CTNNB1
HP_LIPOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIPOMA	ALX3	AKT1	PIK3CA	CDC73	PTEN	SDHD	RPL10	SDHB	FUZ	VANGL1	TBXT	USF3	CCL2	APC	VANGL2	KLLN	MSTO1	ZSWIM6	FGFR1	TAF1	SDHC	SEC23B
HP_CORNEAL_GUTTATA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORNEAL_GUTTATA	AGBL1	COL8A2	ZEB1	KCNJ13	SLC4A11
HP_CORNEAL_STROMAL_EDEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORNEAL_STROMAL_EDEMA	OVOL2	COL8A2	VSX1	GRHL2	SLC4A11	ZEB1	TGFBI	TEK
HP_DECREASED_FERTILITY_IN_MALES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_FERTILITY_IN_MALES	CFAP43	M1AP	DNAJB13	FANCB	CLDN2	SHOC1	CFAP47	FANCA	CFAP58	UBE2T	DAZ1	CDC14A	NR5A1	AR	TGFB1	DNAAF4	SYCP3	RSPH3	SUN5	ZFPM2	PTPN11	IFT74	MSH4	STK36	GCNA	ODAD4	DNAH17	CFAP300	CTNS	USP9Y	AMH	SYCE1	HSFY1	ZMYND15	CYP17A1	CCDC65	SRY	BPY2	WWOX	AIP	RBMY1A1	FOXJ1	ADGRG2	NME8	ZSWIM7	CYP19A1	PALB2	FCGR2A	ODAD2	TEX11	PMFBP1	DNAH1	DNAH5	FBXO43	SLC26A8	PNLDC1	SPAG1	BRCA2	CDH23	GGN	DNAH11	DNAI1	CFAP221	RSPH4A	NEK10	WT1	HYDIN	SPEF2	CFAP298	MSH5	CATSPER2	CDY1	RSPH1	RAD51C	FANCD2	QRICH2	DPY19L2	TERB1	MCIDAS	RSPH9	TERB2	LHCGR	RNF212	MAD2L2	XRCC2	GAS2L2	DNAAF2	PDHA2	FSIP2	FANCI	MOV10L1	DNAAF5	MNS1	CFTR	BRIP1	DNHD1	DDX3Y	SOX9	STAG3	RFWD3	CDY2A	CYB5A	TTC29	STRC	ZMYND10	CFAP52	SYCP2	DMRT3	ALMS1	ZPBP	PPP2R3C	DZIP1	SPATA16	ACTL9	LRRC56	DAZ3	DAZ2	GCM2	GAS8	OFD1	DNAL1	NR0B1	CCDC62	DNAAF11	MEIOB	VAMP7	DNAAF6	AURKC	DHX37	DNAH8	BRCA1	RPS4Y2	GATA4	DNAAF3	DNAH2	CCDC39	C14orf39	FANCF	SPAG17	VCY	DNAAF1	ODAD3	CCDC40	KDM5D	KLHL10	DNAH10	HSD3B2	BLM	DNAI2	PRY2	MAP3K1	MAP2K1	DNAH9	CATIP	TTC12	MEN1	FANCM	RPGR	WDR19	SLX4	CFAP70	AMHR2	TSPY1	ERCC4	FANCL	CEP112	SEPTIN12	RPL10L	TTC21A	FKBP6	CCDC103	CATSPER1	CCNO	BRAF	C2CD6	CFAP44	CCDC34	PDE11A	CFAP65	FANCE	FANCG	PRKAR1A	ARMC2	PRY	GALT	DRC1	RAD51	DAZ4	ODAD1	FANCC
HP_PENDULAR_NYSTAGMUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PENDULAR_NYSTAGMUS	NUP62	CARS1	TMEM106B	PRRT2	MT-ATP6	OPN1MW	ATF6	LRP5	CNGB3	GFAP	TBL1XR1	PDE6C	DNMBP	ATOH7	RPGRIP1	NT5C2	ADAR	TMEM231	CRX	HMGB3	ATP1A2	CNNM4	FRMD7	GNAT2	CLTCL1	OPN1LW	CACNA1A	RPGR	SCN1A	DLAT	PLP1	TENM3	AIPL1	CNGA3	PLA2G6	ARHGEF2	OPN1SW	TMEM63A	SDHD	P4HTM	PDE6H
HP_SEESAW_NYSTAGMUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEESAW_NYSTAGMUS	PRRT2	CLTCL1	CACNA1A	TMEM231	SCN1A	ATP1A2
HP_RETINAL_FLECKS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_FLECKS	PRPH2	PROM1	RLBP1	ZFYVE26	RDH5	BEST1	RHO
HP_AREFLEXIA_OF_UPPER_LIMBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AREFLEXIA_OF_UPPER_LIMBS	SBF2	DKK1	XK	JAG1	CLPB
HP_HEMERALOPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMERALOPIA	GUCY2D	CEP78	NR2E3	CNGA3	GRM6	SAG	ATXN7	NYX	IFT172
HP_OROMANDIBULAR_DYSTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OROMANDIBULAR_DYSTONIA	ALS2	TOR1A	C19orf12	COL6A3	SLC39A14	ANO3	ATN1	COASY	SPG11	FUS	VPS16	TIMM8A	PANK2	VPS13A	THAP1	SIGMAR1	KMT2B	SPTLC1	SLC6A3
HP_LARYNGEAL_DYSTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARYNGEAL_DYSTONIA	STX16	COL6A3	GNAL	GNAS	FTL	KCTD17	THAP1	TUBB4A	VPS13A	PRKRA	ATP5MC3	KMT2B	VPS11
HP_ANASARCA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANASARCA	PRKAG2	PLVAP	FARSB	DPAGT1	UBR1	DEF6	PMM2
HP_REACTIVE_HYPOGLYCEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REACTIVE_HYPOGLYCEMIA	GLUD1	UCP2	ALDOB	PCSK1	YY1	MEN1	HNF1A
HP_LOW_SERUM_CALCITRIOL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_SERUM_CALCITRIOL	ENPP1	CYP3A4	DMP1	CYP27B1	LRP5	CYP2R1
HP_CUTANEOUS_MELANOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTANEOUS_MELANOMA	BRAF	CDKN2A	MC1R	STK11	WRN	COL7A1	MMP1	BAP1	CXCR4	CDK4	HRAS	NRAS	XPC	POLH	OCA2	MITF	ERCC3
HP_BONE_CYST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BONE_CYST	VDR	TREM2	TYROBP	SH3BP2	NOTCH3	ZBTB20	GNAS	PIK3CA	AGPAT2	FGFR1	SDHD	SDHB	NF1	PDGFRB	HLA-DRB1	FOS	USF3	PTEN	PRG4	PPARG	BSCL2	KLLN	B2M	CAVIN1	CAV1	KRAS	BTNL2	AKT1	SDHC	SEC23B
HP_ABNORMAL_CIRCULATING_ACETYLCARNITINE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_ACETYLCARNITINE_CONCENTRATION	ACAD8	MMACHC	LMBRD1	HADH	ABCD4	TANGO2	SLC25A20	ACAD9	ACADS	SLC52A1	HADHB	HADHA	CPT2	ETHE1	MCEE	COX16
HP_PERSONALITY_DISORDER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERSONALITY_DISORDER	DRD2	DNM1	CACNA1A	XK	CBS	SCN1A	SPG21	SGCE	RORA	CYP27A1	TOR1A	CUX2	MAPK10	GABRB3	WAC	KCNT1	CHD2	KCTD17
HP_ENLARGED_CEREBELLUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_CEREBELLUM	KDM1A	PTEN	HRAS	FGFR3	ZEB2	BICRA	PDCD6IP
HP_ABNORMALITY_OF_SKELETAL_MUSCLE_FIBER_SIZE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SKELETAL_MUSCLE_FIBER_SIZE	STIM1	KLHL41	MYH14	COL6A3	MYPN	SMN1	POLG	MYL1	MATR3	NEB	MYH7	COL12A1	LRP12	SQSTM1	DPM3	MYL2	ACTA1	FKTN	RYR1	CAPN3	MEGF10	TRIM32	RILPL1	ISCU	ACTN2	TPM2	PLEC	OPA1	TTN	TRIP4	MTM1	MSTO1	SGCG	CAV3	SGCA	SUCLG1	AIFM1	NEFH	CRYAB	SYNE1	ALDOA	ITGA7	SGCB	LMNA	ORAI1	POPDC3	SMPX	COL6A1	AARS2	FHL1	SELENON	HNRNPA1	CLCN6	CFL2	TWNK	GNE	CCDC174	COL6A2	KY	JAG2	KBTBD13	MICU1	DYSF	VCP	CHRNB1	TPM3	NDUFA4	MYOT	TOR1AIP1	GIPC1	MYH2	MLIP	HPDL	SCO2	GARS1	LMOD3	PPARG	BVES	DMD	ANXA11	SYT2	HNRNPA2B1	TCAP	POMT1	NOTCH2NLC	LYRM4	ANO5	NEK9	SLC25A12	CASQ1	POMGNT1	ASCC1	DNAJB6	TMEM43	UNC45B	LAMA2	CAVIN1	POMT2	STAC3
HP_ABNORMAL_URINARY_COLOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINARY_COLOR	PYGM	ABCC2	HMBS	STAT4	IRAK1	BLVRA	AKR1D1	CPT2	UROD	LPIN1	UROS	TTC26	GATA1	ALAD	CPOX	DMD	MT-CO3	TSC1	CLTRN	SPP1	TSC2	MT-CO1	ATP11C	SLC6A19
HP_ABNORMAL_MITOCHONDRIAL_SHAPE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MITOCHONDRIAL_SHAPE	SLC25A3	MYH14	MFF	LYRM4	SUCLG1	GGPS1	FDXR
HP_ABNORMAL_PANCREAS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PANCREAS_MORPHOLOGY	HNF4A	CSPP1	SPINK1	KCNJ11	PRSS2	ABCC6	MYCN	GATA6	GCK	SETBP1	PTRH2	FOXF1	RERE	STAT3	RPGRIP1	PKD2	CTRC	GABRD	TXNDC15	CASZ1	B9D2	PRSS1	TCTN2	FANCD2	CNOT1	TELO2	TCTN3	ABCC8	TMEM107	OFD1	PDX1	PRKCZ	SPEN	SRP54	CDKN1C	GANAB	IFT140	APPL1	SLC37A4	DZIP1L	ASXL1	SKI	NEUROD1	SBDS	RBM8A	CASR	HSPG2	KLF11	TMEM67	SIK3	FOCAD	INS	NEK1	GLIS3	XPNPEP3	PAX4	MKS1	MMP23B	FLNB	TCTN1	HNF1B	ALG5	CP	TMEM231	VHL	PKHD1	RARB	BLK	DNAJB11	LHX1	CFTR	FLI1	CEP290	WDR19	UBE4B	PTF1A	CEL	DNAJC21	PRDM16	LUZP1	NPHP3	CPA1	TMEM237	TMEM216	EFL1	SLC29A3	CCND1	IGF2	RFX6	HNF1A	PDPN	BICC1	KCNAB2	B9D1	DYNC2I1	RECQL4	DIS3L2	CC2D2A	PKD1	KCNQ1OT1	ALG9	KCNQ1	ENPP1	STRA6	RPGRIP1L
HP_ABNORMALITY_OF_PANCREAS_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_PANCREAS_PHYSIOLOGY	HNF4A	PAX4	MT-ND4	CBS	SPINK1	PRSS2	YARS1	NSD2	BRCA1	LMNA	IL10	GPC4	LBR	SERPINA1	TGFB1	PRSS1	ABCC8	HJV	TLR4	CYBC1	CASR	PDX1	SLC9A3	TKFC	CDKN1B	TP53	APPL1	CTNS	STAT4	MT-TH	CLCA4	GNAS	MT-TL1	HMGCL	INS	MEN1	BCKDHB	APOC2	UCP2	COX4I2	XPNPEP3	SLC16A1	CEACAM6	GCGR	DIS3L2	PNPLA2	JAG1	KCNJ11	PCCB	CDKN2B	HNF1B	FCGR2A	CTLA4	ERAP1	CTRC	BLK	GPR35	ABCB4	CFTR	BCKDHA	HLA-B	PRTN3	CEL	CDKN2A	GCLC	IFNGR1	UBR1	HLA-DPB1	GATA6	IKZF1	CPA1	PPARG	DCTN4	YY1	NADK2	RNU7-1	CCND1	RABL3	MT-ND6	SLC25A13	HFE	SMARCAL1	CDC73	EDNRA	SLC37A4	PCCA	SLC11A1	MT-TS2	ARX	MMUT	EFL1	CDKN2C	IL12A-AS1	MIF	MT-TQ	GNA11	SRP54	MAFA	MT-ND5	ALMS1	GCK	FAH	PALB2	STAT3	BRCA2	NDUFS3	BSCL2	CAV1	INSR	IFT172	MT-CO1	ATP8B1	KRAS	KCNN4	ACTG2	C4A	TRMT5	IL12A	NEUROD1	SBDS	OFD1	KLF11	IL23R	FLI1	MADD	APOE	FOCAD	MEFV	PUF60	NSMCE2	CIDEC	PALLD	GPC3	EIF2AK3	PRIM1	DNAJC21	TCF4	SLC26A9	PTRH2	NFS1	AP2S1	SLC6A14	SLC7A7	HMOX1	VHL	GSTM3	ATP6AP1	LMF1	MST1	AGPAT2	SMAD4	CCR1	MT-CO2	PDE11A	DBT	HAMP	G6PC1	MT-TF	KLRC4	CDKN1A	LPL	SEMA4D	HNF1A	UQCRH	HLA-DPA1	UBAC2	STUB1	CEACAM3	MT-CO3	PTPN22	STX1A	MT-TW	GPIHBP1	FAS	MT-ND1
HP_ABNORMALITY_OF_EXOCRINE_PANCREAS_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_EXOCRINE_PANCREAS_PHYSIOLOGY	HNF4A	GSTM3	KCNJ11	BLK	ATP6AP1	PRSS2	SRP54	YARS1	GCK	NSD2	SMAD4	PALB2	BRCA1	SPINK1	UBR1	CTRC	SERPINA1	BRCA2	STAT3	CEL	TGFB1	PRSS1	CDKN2A	GCLC	DNAJC21	GATA6	SLC9A3	KRAS	PDX1	KCNN4	EFL1	TRMT5	TP53	DCTN4	APPL1	NEUROD1	SBDS	CTNS	OFD1	RABL3	KLF11	CFTR	HNF1A	HFE	MADD	CLCA4	FOCAD	PUF60	EDNRA	PALLD	INS	SLC11A1	PRIM1	SLC26A9	ARX	PTRH2	COX4I2	ABCC8	HNF1B	CEACAM3	PAX4	CEACAM6	STX1A	SLC6A14	JAG1	MIF	FCGR2A	EIF2AK3	HMOX1
HP_ABNORMALITY_OF_ENDOCRINE_PANCREAS_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_ENDOCRINE_PANCREAS_PHYSIOLOGY	PAX4	INS	MEN1	MAFA	KCNJ11	GPC4	FAH	STAT3	ABCC8	LBR	GPC3	EIF2AK3	UCP2	HJV	INSR	SLC16A1	HAMP	PDX1	GCGR	HNF4A	CDKN2C	DIS3L2	CDKN1B	CDKN2B	GCK	HNF1B	YY1	CDKN1A	VHL	CCND1
HP_ABNORMAL_PANCREAS_SIZE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PANCREAS_SIZE	HNF4A	INS	KCNJ11	KLF11	BLK	IGF2	RFX6	LHX1	HNF1A	GATA6	GCK	FOCAD	STAT3	HNF1B	PTF1A	CEL	DNAJC21	PTRH2	GLIS3	ABCC8	CNOT1	PAX4	KCNQ1OT1	PDX1	EFL1	SRP54	CDKN1C	KCNQ1	APPL1	STRA6	SLC29A3	NEUROD1	SBDS	RARB
HP_MULTIPLE_JOINT_DISLOCATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_JOINT_DISLOCATION	CHST3	GNB2	B3GALT6	EXOC6B	RNU4ATAC	KIF22	B3GAT3	GZF1
HP_EDEMA_OF_THE_DORSUM_OF_FEET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EDEMA_OF_THE_DORSUM_OF_FEET	ZNHIT3	RBM8A	TGM1	RNF13	PLAA
HP_ABNORMAL_CIRCULATING_CREATININE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_CREATININE_CONCENTRATION	CCND1	CORIN	CFI	DNAJB11	SLC4A1	TREX1	CFHR3	PKD2	CFH	ALG8	TTC26	CFHR1	MLIP	AVPR2	CTNS	GALNT2	SLC41A1	HBB	THBD	GANAB	FLT1	STOX1	NT5E	CFB	COQ7	ADAMTS13	APRT	MUC1	BICC1	SLC22A12	CPT2	DBH	GAMT	IFT140	FAN1	ELP1	HNF1B	NPHP1	MRPS7	PKD1	C3	CD46	ALG9	CC2D2A	NFE2L2	ALG5	INVS	WDR19	HPRT1	PAX2	TMEM260
HP_DECREASED_SERUM_CREATININE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SERUM_CREATININE	GAMT	AVPR2	GALNT2	NFE2L2	NT5E
HP_ABNORMAL_MITOCHONDRIAL_NUMBER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MITOCHONDRIAL_NUMBER	MGME1	DNA2	CHCHD10	GYG1	PET117
HP_ABNORMALITY_OF_THE_MITOCHONDRION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MITOCHONDRION	CYC1	MT-ND4	NDUFV2	COX5A	NDUFA9	NDUFB10	NDUFS6	FBXL4	ACAD9	FUS	PDHA1	CARS2	MT-ND2	NDUFV1	CPT2	ETFA	MCCC2	TK2	GATM	GFER	SLC25A20	POLG	MT-ND1	NDUFS7	ATPAF2	SUCLG1	VARS2	CTNS	ATP5F1E	PDHX	RRM2B	QRSL1	PREPL	PNPT1	SLC25A4	NDUFS4	NDUFA13	SDHA	PDHB	MT-TH	COL7A1	NDUFB7	MT-TL1	TIMM22	SLC39A8	NDUFS8	SCO1	COX15	COX16	NDUFAF5	DNM1L	PDP1	AARS2	DNA2	MFF	NDUFA2	CAMKMT	TWNK	HADH	SLC34A1	MT-CO1	BCS1L	NUBPL	DLAT	NDUFAF8	FDXR	MT-TN	VCP	NDUFA12	SDHD	MTFMT	ACADM	GLRX5	NDUFAF2	SLC3A1	RARS2	MIEF2	NDUFC2	TMEM70	ECHS1	COA5	NDUFA4	SLC25A10	NDUFAF4	EARS2	FOXRED1	COX6A2	MT-CYB	SCO2	NDUFA11	NDUFA6	MRPS23	NDUFAF6	C9orf72	NDUFA1	MGME1	GFM1	NSUN3	MRPS16	NADK2	MT-CO3	MT-ND6	NDUFA10	DLD	ETFB	TTN	LRPPRC	MECR	MRM2	CYBA	LYRM4	HADHA	NDUFB9	PET117	MT-TS2	ACAD8	AIFM1	SLC25A26	NDUFS3	HMGCL	TXN2	MT-TQ	MT-TE	GTPBP3	NDUFB3	SDHB	MYH14	DNMT1	NDUFS2	TAFAZZIN	MT-ND5	PPM1B	NDUFS1	LIPT1	TSFM	ISCU	COA6	TIMMDC1	KARS1	COX20	HSD17B10	IBA57	TYMP	ATP5F1D	AK2	DNAJC30	MT-ND3	TACO1	TRMT5	TARDBP	SQSTM1	SPG7	CYBB	CHCHD10	TMEM126B	MT-TL2	MRPL12	SLC19A3	BOLA3	LIG3	GYG1	FXN	GATC	UQCC2	NFS1	SLC25A3	NDUFAF1	AFG3L2	MTRFR	PET100	MRPS25	GNE	DGUOK	GGPS1	CYP27A1	NEB	MMP1	TIMM50	TBK1	ETFDH	MT-CO2	PEX5	ACADVL	COA8	MT-TF	MPV17	HIBCH	NFU1	PTCD3	MT-ATP6	NDUFAF3	TRIT1	SLC22A5	UQCRH	COA3	EHHADH	POLG2	COX4I1	NDUFB11	SURF1	SUCLA2	MT-ND4L	TRMU	MT-TW	MYH7	LYRM7	MRPS14	NDUFA8
HP_PARIETAL_CORTICAL_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARIETAL_CORTICAL_ATROPHY	MAGEL2	NDN	STUB1	SNRPN	TMEM147	SCYL2	SACS	OCA2
HP_OCCIPITAL_CORTICAL_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCCIPITAL_CORTICAL_ATROPHY	MAGEL2	NDN	SNRPN	DOCK7	OCA2
HP_OPEN_ANGLE_GLAUCOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPEN_ANGLE_GLAUCOMA	OPTN	NTF4	ASB10	FGF10	EFEMP1	CYP1B1	WDR36	FGFR3	LMX1B	MYOC	FGFR2	POLG2
HP_ANGLE_CLOSURE_GLAUCOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANGLE_CLOSURE_GLAUCOMA	TMEM98	FZD4	NDP	ATOH7	LRP5	COL18A1
HP_HYPOPLASIA_OF_THE_PONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_PONS	AMPD2	FGF8	PCLO	TUBB2B	DLL1	EXOSC9	CLCN3	POMK	GPHN	FOXH1	TRAPPC12	UBE2A	AGTPBP1	PTCH1	VRK1	SLC25A46	BRF1	ZIC1	RTTN	TDGF1	B3GALNT2	TSEN54	TUBB3	RERE	TSEN15	NODAL	MACF1	FKRP	DOCK7	CASK	GMPPB	ROBO3	PPIL1	DISP1	ARHGEF2	AHCY	POGZ	PPP2R1A	EXOSC3	EXOSC1	LARGE1	ATXN8OS	POMGNT1	VPS51	PTEN	MDH1	EPG5	ADGRG1	ALG3	MAB21L1	SIX3	MINPP1	MED23	ATXN2	POMT2	PMM2	PRDM13	PIGS	TOE1	GLI2	STUB1	SMARCA2	ASNS	PI4KA	STIL	ZIC2	RELN	SNX14	APC2	CDON	TUBA1A	TGIF1	POMT1	WNT1	SLC5A6	EXOSC8	DCC	GAS1	SHH
HP_ABNORMALITY_OF_CIRCULATING_GLUCOCORTICOID_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CIRCULATING_GLUCOCORTICOID_LEVEL	NR3C1	HTR1A	CYP11A1	MEN1	SMARCE1	HSD11B2	ARMC5	GATB	CYP11B1	ATRX	PRKACA	ZNRF3	PRKAR1A	USP8	TRAF7	SUFU	CYP11B2	ABCD1	PIK3CA	BAP1	TERT	PDE11A	KCNJ11	SMARCB1	AKT1	PDE8B	TXNRD2	GNAS	TBX19	GLI3	CDKN2A	CDKN1B	NR0B1	MRAP	CDKN1A	NFKB2	TP53	RET	QRSL1	NF2	POR	CYP17A1	BRAF	MC2R	AAAS	PCSK1	SMO	GATC	AIRE	CDH23	STAR	NNT	SERPINA6	USP48	CDKN2C	PDGFB	CDKN2B	CTNNB1	HSD3B2	CYB5A
HP_HEPATITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATITIS	FOXP3	IGKC	POU2AF1	ITCH	ALMS1	CTNNB1	TTC7A	ACP5	CASP8	BLNK	FAS	STAT1	IL21R	RFX5	TCF3	RFXAP	BTK	TBX19	RFXANK	PIK3CA	C1S	AMACR	IFIH1	C4B	SHPK	SLC25A15	PI4KA	KRT18	SPIB	RASGRP1	CLEC7A	GNAS	SKIC2	ATP7B	TCF4	CD247	GLIS3	CD79B	IRF5	CD3E	LRRC8A	IGHM	XIAP	GPR35	HSD3B7	IL18BP	MST1	PRKCD	MMEL1	VIPAS39	TRAF3IP2	SYK	PIK3R1	TPP2	CASP10	IL17RA	MET	APC	SH2D1A	VPS33B	IL12RB1	IGHG2	COG8	AIRE	COG6	FASLG	CIITA	TOM1	SEMA4D	CD40LG	CYP7B1	AXIN1	PIEZO1	TNPO3	AKR1D1	PGM1	PDGFRL	IL12A	IGLL1	IL17F	HBB	CD3D	IGF2R	IL17RC	TNFSF15	SERPINA1	TP53	CYP7A1	ATP7A	CD79A	GUSB
HP_METHEMOGLOBINEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METHEMOGLOBINEMIA	CYB5A	CYB5R3	HBG2	HBA1	HBB
HP_METHYLMALONIC_ACIDURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METHYLMALONIC_ACIDURIA	TCN2	MMACHC	MMAB	MMAA	SUCLA2	LMBRD1	ABCD4	ACSF3	HCFC1	MMUT	PRDX1	MMADHC	CD320	MCEE	ALDH6A1	SUCLG1	MLYCD
HP_ANTERIOR_UVEITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_UVEITIS	NOD2	PTPN2	STUB1	IL2RA	IL2RB	HLA-B	TNFAIP3	IKBKG	HLA-DRB1	LACC1	PTPN22	MIF	STAT4	ANKRD55	AIRE	IL6	CD247
HP_POSTERIOR_UVEITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_UVEITIS	NOD2	BIRC3	FOXP1	MALT1	BCL10
HP_STOMACH_CANCER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STOMACH_CANCER	FGFR2	IL1B	KLF6	BUB3	CASP10	TRIP13	STK11	KRAS	CEP57	CDH1	TP53	CHEK2	BUB1B	AAGAB	MDM2	APC	IL1RN	BMPR1A	RPS20	COL14A1	SEMA4A	MSH3	CDKN2A	IRF1	BLM	BUB1	ERBB2	MUTYH	PIK3CA
HP_ABNORMAL_NUMBER_OF_ERYTHROID_PRECURSORS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NUMBER_OF_ERYTHROID_PRECURSORS	RPS29	RPS20	PNP	PUS1	RPL27	PGK1	RPL35A	GLRX5	SF3B1	PIGA	UROD	RPS26	ERBB3	TET2	RPL26	RPS17	GATA1	RPS24	PKLR	CBLIF	RPS10	KLF1	RPS27	TSR2	ADA2	CDAN1	RPL18	RPL35	HBB	RPS28	RPS14	G6PC3	UROS	RPS19	RPL15	EPO	RPS7	TP53	CDIN1	RPL11	RPL31	HEATR3	RPS15A	LPIN2	RPL5
HP_ERYTHROID_HYPERPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERYTHROID_HYPERPLASIA	GATA1	ERBB3	UROS	PUS1	PGK1	GLRX5	CDAN1	TET2	SF3B1	PIGA	CDIN1	HBB	UROD	PKLR	CBLIF	KLF1	LPIN2
HP_ERYTHROID_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERYTHROID_HYPOPLASIA	RPS29	RPS20	RPS27	RPL27	TSR2	RPL35A	ADA2	RPL18	RPL35	RPS28	RPS14	G6PC3	RPS26	TET2	RPL26	RPS19	RPL15	RPS17	RPS7	RPS24	TP53	RPL11	GATA1	RPL31	HEATR3	RPS10	RPS15A	RPL5
HP_ABNORMAL_GRANULOCYTOPOIETIC_CELL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GRANULOCYTOPOIETIC_CELL_MORPHOLOGY	GATA1	CXCR4	RPL18	TET2	SF3B1	KIT	SRSF2	NUMA1	CXCR2	ASXL1	RARA	IRF8	CSF3R
HP_ABNORMAL_NUMBER_OF_GRANULOCYTE_PRECURSORS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NUMBER_OF_GRANULOCYTE_PRECURSORS	SRSF2	TET2	ASXL1	IRF8	RPL18	SF3B1	CSF3R	KIT
HP_GRANULOCYTIC_HYPERPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GRANULOCYTIC_HYPERPLASIA	SRSF2	TET2	ASXL1	IRF8	CSF3R	KIT
HP_ABNORMAL_MEGAKARYOCYTE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MEGAKARYOCYTE_MORPHOLOGY	TET2	ANKRD26	CALR	GP1BB	SF3B1	SH2B3	MYSM1	SLC35A1	RPS14	UBA1	JAK2	KIF15	GP1BA	SAMD9	GNA14	HOXA11	MYH9	GP9	TP53	MPL	GATA1	RFWD3	ZNFX1
HP_ABNORMAL_MONOCYTE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MONOCYTE_MORPHOLOGY	ELANE	NRAS	WAS	PIK3CG	TCIRG1	CARD11	PIK3CD	GFI1	IKBKB	SRP54	ZNFX1	RAC2	G6PC3	KRAS	CLPB	DDX41	IRF8	GATA2
HP_ABNORMALITY_OF_MULTIPLE_CELL_LINEAGES_IN_THE_BONE_MARROW	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_MULTIPLE_CELL_LINEAGES_IN_THE_BONE_MARROW	MDM4	LIG4	DCLRE1B	UNC13D	IRF2BP2	ITCH	TCN2	ACP5	SF3B1	KIT	GATA2	SBDS	FANCA	FIP1L1	NHP2	LBR	TET2	SAMD9L	MPL	ZNF699	ERCC4	RNASEH2A	STN1	PRF1	RFXAP	FANCD2	TERT	RAB27A	HAVCR2	TERC	ERCC6L2	IFIH1	TCIRG1	ASXL1	JAK2	ACD	STAT5B	GFI1	RASGRP1	FANCE	GNAS	ADH5	RAC2	NOP10	RECQL4	PARN	OSTM1	SHOC2	SAMD9	CLCN7	STXBP2	MMAA	RTEL1	TINF2	RFXANK	FANCC	FANCL	VPS33A	PCCB	PRKAR1A	ALPK1	XIAP	LMBRD1	SLC46A1	LRBA	SRP72	MYSM1	IFNG	RPL26	SRC	SLX4	BACH2	TBXAS1	BRIP1	GFI1B	USB1	CTC1	DKC1	FASLG	ZCCHC8	FANCF	SMARCAL1	NPM1	PCCA	ATR	RARA	GBA1	SCARB2	MRPS7	BCOR	XRCC4	HLA-DRB1	SRP54	MAN2B1	PML	ELANE	DUT	PTPRC	IKZF1	FANCB	FAS	MAD2L2	CLPB	DDX41	RFX5	NABP1	ZBTB16	COQ2	WRAP53	BRCA2	HOXA11	TP53	GATA1	MPIG6B	WDR19	SRSF2	NBEAL2	FARSB	DHFR	CALR	STAT3	MMADHC	DNAJC21	FANCI	COG6	STX11	SP110	ITK	TLR8	TNFRSF4	SLC7A7	SH2B3	TYMS	IVD	CUBN	UBE2T	CD27	PALB2	PIGA	PRKCD	FLI1	PGM3	MTRR	CASP10	MMAB	NLRC4	PSTPIP1	SH2D1A	AMN	EFL1	CBL	ADA2	DNASE2	TCF3	RUNX1	LYST	CXCR4	NBN	RPS14	TGFB1	NUMA1	NRAS	ANAPC1	TNFSF11	MTHFD1	TBL1XR1	NAXD	CA2	CIITA	KRAS	RPA1	TALDO1
HP_ABNORMALITY_OF_VON_WILLEBRAND_FACTOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_VON_WILLEBRAND_FACTOR	ITGB3	GP1BA	ITGA2B	GP9	F8	GP1BB	SLC37A4	IKZF5	VWF	NBEAL2
HP_SINGLE_LINEAGE_MYELODYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SINGLE_LINEAGE_MYELODYSPLASIA	HSCB	ERBB3	TET2	HSPA9	SF3B1
HP_HEMOTHORAX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMOTHORAX	EIF2AK4	ENG	EXT1	SERPINF2	EXT2	COL3A1
HP_HYPOTRIGLYCERIDEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOTRIGLYCERIDEMIA	MTTP	APOC3	GALNT2	CCT5	NGLY1	ANGPTL3	CETP	PCYT1A	SAR1B
HP_DECREASED_CORNEAL_SENSATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CORNEAL_SENSATION	CHST6	FGF10	FGFR3	TGFBI	FGFR2
HP_HEMOPHAGOCYTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMOPHAGOCYTOSIS	SLC7A7	PIK3CG	UNC13D	PRF1	STXBP2	XIAP	STX11	RAB27A	LYST	TLR8	CD27	SH2D1A	HAVCR2	ZNFX1	DNASE2
HP_SUBCORTICAL_CEREBRAL_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBCORTICAL_CEREBRAL_ATROPHY	SHPK	ADGRV1	LHX1	ACTB	TCTN3	ALG3	MYO7A	WHRN	PCDH15	CDH23	FGFR1	GCDH	ESPN	HNF1B	USH1C	MBTPS2	MAN2B1	MYO5A	COG7	USH1G	PANK2	PDZD7	EHMT1	KRAS	CIB2	ACTG1	POGZ	USH2A
HP_CAROTID_ARTERY_DILATATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAROTID_ARTERY_DILATATION	TOM1	HEY2	TGFB3	PRKG1	LOX	SMAD2	MAT2A	FOXE3	DCDC2	STAT1	FBN1	MYLK	TGFBR2	TGFBR1	IPO8	TMEM67	MFAP5	TGFB2	MYH11	ELN	SMAD4	ACTA2	SMAD3
HP_ASTERIXIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASTERIXIS	ATP8B1	SLC25A13	NR1H4	ABCB4	ABCB11
HP_OLIGODACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OLIGODACTYLY	BRD4	HDAC8	BHLHA9	RAD21	ESCO2	CYP26B1	GLI3	WNT7A	SMOC1	TP63	CHD7	DONSON	SEM1	WNT10B	BTRC	H4C3	SMC3	NIPBL	EPS15L1	MBTPS2	RIPK4	LRP4	APC	FBXW4	SMC1A	DLX5	SF3B4	RECQL4	PORCN	DLL4	HOXD13	DLX6
HP_SKIN_PICKING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_PICKING	MAGEL2	NDN	SLC6A4	SNRPN	USP7	CNTNAP2	CHD5	HTR2A	SIM1	KMT2E	OCA2
HP_HAIR_PULLING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAIR_PULLING	EEF1A2	SLC1A4	VPS13A	SLITRK1	SHANK3
HP_HEAD_BANGING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEAD_BANGING	SVBP	MAPK1	SNRPN	DPAGT1	KAT5	VPS13A	RAI1	TAOK1	PIGF
HP_SELF_BITING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SELF_BITING	NTRK1	NEXMIF	PIDD1	FMR1	DNM1L	ATP1A1	SYT1	CEP104
HP_STEREOTYPICAL_HAND_WRINGING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STEREOTYPICAL_HAND_WRINGING	MECP2	CDKL5	LMNB1	GRIN2A	CNTNAP2	GABBR2	DHX30	GRIA2	NACC1	KCNB1	NTNG1	SMC1A	VAMP2	DYRK1A	GNAI1	IQSEC2	LARP7	GRIN1	H4C5	CELF2	MGAT2	NEXMIF	ZBTB18	SATB1
HP_STEREOTYPICAL_BODY_ROCKING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STEREOTYPICAL_BODY_ROCKING	WDR26	NEXMIF	GNB2	KIF15	DPAGT1	ZSWIM6	AFF2
HP_GLIOBLASTOMA_MULTIFORME	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLIOBLASTOMA_MULTIFORME	PMS1	MLH1	TGFBR2	MSH2	TP53	PMS2	FAN1	MSH6	CHEK2	IDH1	MDM2	ERBB2	BRCA2	EPCAM	BMPR1A	RPS20	KRAS	SEMA4A	CDKN2A	MLH3	APC	PIK3CA
HP_ABNORMAL_NATURAL_KILLER_CELL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NATURAL_KILLER_CELL_MORPHOLOGY	DCLRE1B	PIK3CG	B2M	LYST	RIPK1	IKBKB	IL2RG	PTPRC	RAG2	IL6ST	MCM4	PGM3	SASH3	DOCK8	RAG1	SYK	ELF4	KNSTRN	SP110	DNMT3B	FCGR3A	NLRC4	PIK3CD	MCM10	AP3B1	GINS1	JAK3	TOM1	CD70	GATA2
HP_ABNORMAL_NATURAL_KILLER_CELL_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NATURAL_KILLER_CELL_PHYSIOLOGY	UNC13D	PRF1	IL2RG	STXBP2	PRKCD	IKBKG	PIK3CD	WAS	STX11	WIPF1	FCGR3A	NLRC4	XIAP	SH2D1A	AP3B1	LCP2
HP_ENTRAPMENT_NEUROPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENTRAPMENT_NEUROPATHY	IDUA	GNPTAB	SH3TC2	COMP	GNAS	ARSB	TTR	B2M	GSN	IDS	CA2
HP_OROPHARYNGEAL_SQUAMOUS_CELL_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OROPHARYNGEAL_SQUAMOUS_CELL_CARCINOMA	TOM1	CDKN2A	ATR	STAT1	NUTM1	BRD4
HP_HODGKIN_LYMPHOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HODGKIN_LYMPHOMA	RNF43	RASGRP1	TCF4	CD27	ATM	SOCS1	PRKCD	DKC1	FAS	TP53	CHEK2	POLE	KLHDC8B	STAT3	AAGAB	MDM2	CASP10	PGM3	DEF6	ITK	COL14A1	CDKN2A	FASLG	CD70	MAGT1
HP_T_CELL_LYMPHOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_T_CELL_LYMPHOMA	MLH1	CD28	CASP10	CTLA4	RASGRP1	TTC7A	HAVCR2	PRKCD	FAS	MSH6	TNFRSF1B	FASLG	POLE	NBN
HP_B_CELL_LYMPHOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_B_CELL_LYMPHOMA	SYK	PIK3R1	IKZF3	CASP10	BIRC3	ATM	RASGRP1	MALT1	ITK	BCL10	CCND1	PRKCD	PTPRC	FCHO1	FAS	FOXP1	FASLG	ADA	NBN	MAGT1
HP_INSULINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INSULINOMA	CDKN2C	CDKN1B	MEN1	CDKN2B	MAFA	CDKN1A
HP_ABNORMALITY_OF_PROTHROMBIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_PROTHROMBIN	HLA-DQB1	F2	NR1H4	GNE	GPR35	SLC25A13	MST1	ACAD9	SLC30A10	MICOS13	FAH	NGLY1	GGCX	F5	PRF1	VKORC1	CFH	AHCY	CLPB	GFI1B	F7	ALG12	LMAN1	SEMA4D	CD46	CFI	CYP7B1	SOS2	HMGCL	HELLPAR	AKR1D1	PGM1	AGA	F10	TCF4	MCFD2	PMM2	MTTP	HADH	ADK	SLC37A4	RINT1	TRMU	EFL1	PET100	COG8	OTC	NBAS	HLA-DQA1
HP_ONYCHOMYCOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ONYCHOMYCOSIS	CARMIL2	POU2AF1	STAT1	TRAF3IP2	SPIB	CYBC1	IRF5	KRT1	PLCG2	TNFSF15	SDR9C7	CLEC7A	TNPO3	MMEL1	ATR	CARD9	IL17RC	IL12RB1	IL12A	DOCK8	HPGD	NFKB2
HP_GLOBOZOOSPERMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLOBOZOOSPERMIA	CCDC62	NANOS1	SPATA16	C2CD6	ZPBP	DPY19L2	GGN
HP_ABNORMAL_SPERM_MOTILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SPERM_MOTILITY	CFAP43	STRC	ZMYND10	GBA2	DNAJB13	DZIP1	CFAP47	CFAP58	LRRC56	PKD2	GAS2L2	CFAP91	CDC14A	GAS8	SUN5	DNAAF4	OFD1	RSPH3	DNAL1	IFT74	CCDC40	STK36	ODAD4	DNAH17	GANAB	CFAP300	DNAH8	CCDC65	DNAAF3	CFAP45	DNAH2	CCDC39	SPAG17	DNAAF1	ODAD3	FOXJ1	NME8	KLHL10	DNAH10	ODAD2	ALG5	DNAI2	PMFBP1	DNAH1	DNAH5	FBXO43	DNAH9	SLC26A8	SPAG1	DNAJB11	CATIP	TTC12	DNAAF11	CFAP410	RPGR	CATSPER2	WDR19	DNAI1	DNAH11	CFAP70	CFAP221	RSPH4A	NEK10	RSPH9	CEP112	HYDIN	SEPTIN12	SPEF2	CFAP298	RSPH1	BRDT	RPL10L	TTC21A	CCDC103	CATSPER1	MCIDAS	CCNO	BICC1	CCDC34	DNAAF2	PDHA2	FSIP2	PDE11A	DNAAF6	CFAP65	DNAAF5	PRKAR1A	ARMC2	IFT140	HNF1B	DNHD1	PKD1	DRC1	ALG9	ODAD1	TTC29	CFAP69
HP_REDUCED_SPERM_MOTILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_SPERM_MOTILITY	CFAP43	STRC	GBA2	SLC26A8	DNAJB11	CATIP	CFAP47	CFAP58	CFAP410	PKD2	CATSPER2	CFAP91	SUN5	RSPH9	CEP112	SEPTIN12	HYDIN	ZMYND10	BRDT	DNAH17	GANAB	TTC21A	DNAH8	CATSPER1	SPEF2	BICC1	CCDC34	PDHA2	FSIP2	DNAH2	CCDC39	STK36	SPAG17	ARMC2	IFT140	HNF1B	RSPH4A	DNHD1	PKD1	KLHL10	DNAH10	ALG9	TTC29	CFAP298	ALG5	PMFBP1	CFAP69
HP_IMMOTILE_SPERM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMMOTILE_SPERM	CFAP70	CATSPER1	RSPH9	DNAAF5	IFT74	DZIP1	CCDC40	CFAP65	CCDC39	CATSPER2	GAS2L2	DNAJB13	STRC	CDC14A
HP_JUVENILE_MYELOMONOCYTIC_LEUKEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JUVENILE_MYELOMONOCYTIC_LEUKEMIA	MAP2K1	NF1	CBL	BRAF	ARHGAP26	PTPN11	NRAS	KRAS
HP_ABNORMAL_RENAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_MORPHOLOGY	MT-ND4	SDHB	LMX1B	VPS37D	LRP4	TRNT1	SDHD	HS2ST1	IFT43	CPLANE1	RPGRIP1	KYNU	ZNF699	CPT2	CEP41	SLC41A1	SMARCB1	RNU4ATAC	DNASE1	PRKAR1A	GLIS2	CLCNKA	ACTG2	SIX1	FBXW11	RASGRP1	GP1BB	ADA2	DYNC2H1	ZIC3	TAPT1	TMEM67	ITGA6	TRAF3IP1	CAMKMT	MAX	ARID1B	FGF20	SLC3A1	HNF1B	PKD1	CLCN5	ANKLE2	RPGRIP1L	RPS29	POLR3A	TOPORS	BRCA2	LMNB1	NADSYN1	DVL1	HSD17B4	RPL35A	WT1	PRTN3	CHN1	PIGN	WNT4	HGD	COL4A3	RPL26	MAFB	NEK8	ERCC8	PGM3	FKBP6	GREB1L	FLII	MGME1	SLC12A1	VPS33B	NCAPG2	MT-ND6	KMT2A	CCND1	MT-ATP6	PAX2	CHKA	BAP1	ATN1	KIF1B	SMARCAL1	CHD7	ACP5	RAI1	SLC11A1	WAC	CDC73	GNB1	MPI	PLCD1	TPRKB	MOCS1	TRRAP	DGKE	IL12A-AS1	GNA11	MT-ND5	CLDN19	FAH	VHL	KDM6A	GABRD	B9D1	KCTD1	NBN	TCTN3	KMT2D	PKHD1	ACTB	UMOD	WNT5A	INSR	GPC3	SURF1	CDKL5	SIX3	PAH	TBX1	CTU2	KIRREL1	RFWD3	SLC7A7	MRPL3	DAAM2	CCDC22	OCRL	DNAJB11	NOTCH2	PRKCD	FLI1	ETFDH	BSND	EIF4H	SHANK3	MTRR	PEX3	TTC8	IFT140	MCTP2	LZTFL1	DYRK1A	MT-TF	NXN	WDR19	PDSS2	PIGO	AIRE	SOX11	CD2AP	KCNH1	SRCAP	JAK1	SPART	MASP1	CEP290	MED25	WDR11	ESCO2	PRKACB	FCGR2B	SH2B1	KAT5	CLDN2	POLRMT	IL10	TRIP11	NF1	TNXB	SUFU	MAP3K7	TRAPPC10	SIX5	GPKOW	ARL6	AMMECR1	METTL27	INPP5E	ADCY10	NUP85	GLA	LMNA	STK11	MKKS	H4C3	SLC25A22	MYOD1	ARHGDIA	BUB1B	PAX1	NRIP1	GLIS3	GNAO1	PEX1	GDF6	PMM2	GRIA3	PRKAG2	PIDD1	PDX1	CRB2	TBC1D20	ACVRL1	NUP37	FAT4	FLNA	SOX18	GON7	NCF1	TKT	RAB3GAP2	CEL	ANKFY1	IFNGR1	RERE	PIGV	PTPN11	ARX	PTPRO	SDCCAG8	TMEM216	PTPN22	TMCO1	PEX13	RAD21	IFT172	SLC34A1	MED12	FANCI	MLXIPL	YRDC	PTCH1	MEG3	PHGDH	GDF3	THOC6	FGFR1	MOCS2	CEP55	CEP120	PQBP1	FGF8	FREM1	ROR2	HNRNPK	FIBP	ANLN	SCN1B	ATRX	IQCB1	SGPL1	TRIM32	LAMB3	STRADA	PEX11B	PRMT7	HIRA	CAPN15	RPS19	MT-CO1	TSC1	C4A	PPP2R1A	LMBRD1	RAD51C	SKIC2	IL23R	ARVCF	SLC7A9	IFNG	EMP2	FANCF	FGFR2	GLI1	SLC2A2	NUP107	NEK1	SMO	ITGA8	AP2S1	SLC26A1	PEX2	SOX17	HMOX1	PLCE1	RAB3GAP1	MYL9	MMP1	FANCM	TDGF1	UBE4B	EYA1	DACT1	MT-TW	PIGW	PIGA	NRAS	ANKRD17	RPS17	DPF2	POR	USP9X	CFTR	JAM3	DDX59	ATP1A1	TMEM218	SLC34A3	FANCE	FAM149B1	CHST14	ELP1	GNAS	USP18	GFRA1	SC5D	RSPO2	WDR4	WIPF1	KAT6B	FANCB	NPHP4	NSD2	SASS6	DEAF1	ATP6V1B1	CASZ1	MYOCD	KIAA0753	IPO8	IDH1	DYNC2I1	WASHC5	EXTL3	RPS24	PLG	CTNS	COL18A1	COQ7	TRIM8	ARL3	RPS27	PBX1	NPHP1	MT-TL1	TBC1D7	BBS5	LMOD1	RREB1	TTC21B	DIS3L2	HSPG2	DYNC2I2	BLK	ASXL2	MTX2	B9D2	SOCS1	TP63	HSPA9	SPRY2	MAGI2	YY1	GRHPR	PRDM16	MEFV	NUP205	KNSTRN	WAS	KAT6A	SKIC3	RTL1	FN1	ETFB	CENPJ	RAF1	FANCA	ANOS1	TRPC6	COQ6	ANKS6	MT-TS2	DNA2	SLC37A4	NCAPD3	CC2D2A	MID1	MT-TQ	CIT	ENPP1	ZNF148	SRP54	MT-CYB	RET	BBS2	TAF13	SOX9	SHH	NPHS1	DCDC2	PTH1R	NOS1AP	RTTN	HLA-B	COQ2	PDE8B	MAPKBP1	PRPS1	CDKN1C	ATP7A	OFD1	SBDS	CSPP1	VPS45	COQ8B	CDK6	NOD2	PEX5	PIGY	KANK2	NDUFAF3	APRT	ATP6V0A4	MT-TV	PIGT	INF2	MMP23B	FLNB	AFF4	ELN	SF3B4	RARB	FAM20A	AKT1	GANAB	FUZ	EP300	LHX1	BICC1	ABCG5	NLRP3	CASK	FOXH1	NAA10	ERCC4	TBX18	FREM2	G6PC1	BRAF	PLVAP	MEN1	MUC1	ALDH18A1	SLC22A12	INSL3	SLC2A9	PUF60	PROKR2	LARGE1	FAN1	CILK1	RPS7	STX1A	KCNQ1OT1	MPDU1	CCNQ	ANTXR1	POLE	ALG5	LIG1	PCK1	HPRT1	ADAT3	TP53RK	IARS1	CLCN3	MOCOS	AFF3	PKD2	MYMX	CCBE1	BBS10	MCM7	CASR	TMEM107	SLC9A3	SPEN	TBC1D8B	RAB18	SKI	WNT3	PREPL	MYRF	HOGA1	AGT	DNASE1L3	H4C9	HLA-DRB1	MBTPS2	NODAL	FBN1	EBP	PAX4	RPL15	RPL11	CDC42	ALPL	MMACHC	SPECC1L	GAPVD1	TREX1	DHCR7	GLMN	LUZP1	PIK3CD	TXNL4A	MKS1	DCTN4	ARPC4	RPS10	NPHP3	CLCNKB	POMT1	IGF2	GTF2I	PIK3C2A	ZMYM2	CFHR5	PI4KA	KCNQ1	AGTR1	ABCC6	COL4A5	ITGB4	ALMS1	MT-ND2	CDC42BPB	MDM2	FAS	RAB23	TELO2	SALL4	MSH3	IFT74	SUCLG1	GLI2	HESX1	CD151	LRP5	HS6ST1	APOE	PDHA1	FOXC2	HDAC4	DNAJC21	SEC61A1	SLC9A3R1	PIEZO2	ARL6IP6	ARID2	DYNC2LI1	MCM5	SON	GRIP1	PEX14	MYO1E	LAMC2	CACNA1D	GBE1	B3GLCT	PLXNA1	GTF2IRD2	LIMK1	RBBP8	PIGL	LRIG2	CDON	TMEM127	GRIN1	NUP133	TOM1	TMEM270	KANSL1	MRPS34	WLS	HNF1A	METTL5	INVS	ENG	GAS1	NUP160	UBAC2	ZAP70	PRKCSH	C1QB	ALG9	RBM8A	EVC	PRKACA	FOXP3	SLC4A1	CHRM3	SEMA3E	GPC4	SLC6A19	SERPINA1	LTBP4	HYLS1	ETFA	MEOX1	MT-ND1	BMP4	ADAMTS3	FRAS1	DNMT3A	SETD2	MT-TK	EHMT1	GNPTAB	CAMK2A	CDKN1B	APPL1	MAGED2	DISP1	RPS28	PUS3	ZEB2	CCDC141	ATP7B	SPOP	RBM10	XPNPEP3	FANCC	GP9	VPS33A	PALB2	TRAPPC14	ZBTB18	DSE	CFAP418	CREBBP	TRIP13	LAMA5	DUSP6	FGFR3	VIPAS39	CLDN10	FGF10	PIGQ	B2M	SI	PCK2	RNU7-1	ARID1A	MAD2L2	NDNF	EDNRA	ACTN4	SPRY4	COL4A1	SLC30A9	ABCC8	CEP164	BRIP1	COLEC11	DHCR24	OPLAH	SDHA	MMUT	ERBB3	MIF	SIK1	B3GALT6	SRY	SPRED1	DHX16	GCK	PPM1B	FOXF1	PIK3CA	ADA	TMEM231	RIPK4	GRM7	SALL1	SLC36A2	NEUROD1	CLPB	NUP93	GRB10	SLC25A11	EPAS1	SLC26A9	ADAMTSL1	CYP24A1	SLC6A17	WDR35	MCPH1	GATA3	COG7	VAC14	BAZ1B	RPS15A	ZNF687	ZMIZ1	SEC24C	SLC1A1	NPHS2	FEZF1	PEX16	PEX10	ABCG8	MFSD2A	KIF14	FKTN	FGF13	KLRC4	AGXT	SCAPER	TGFB1	NFIA	ALG8	ACE	HNRNPH1	FLCN	ACSL4	CEP63	SLC1A2	AIP	BUB1	STRA6	ARNT2	TSC2	TMEM260	SLC12A3	BRD4	STAT1	LMNB2	KCNJ5	TCTN2	XRCC4	SEMA3A	ERCC6	DCC	GATA1	ATPAF2	STAG1	DPH1	STAT4	MT-TH	CLCA4	INS	G6PC3	SHOC2	IFT80	FANCL	JAG1	SCARB2	MAP2K2	ERAP1	DLL4	PEX6	VANGL1	BCL7B	HSD11B2	PEX19	CTNNB1	COL7A1	FAM20C	BBS1	BCOR	MME	EN1	TBX22	FASLG	UBE2A	PORCN	CHUK	WDR73	SOS1	COPB2	PAX7	KRAS	DKC1	BMPER	FLRT3	SMARCC2	CRTAP	BICRA	RPL18	CDKN2C	ARSK	XRCC2	RPL31	TULP3	TBC1D24	NSUN2	OSGEP	PDCD6IP	SLC29A3	FCGR2A	GLI3	PRKCZ	SETBP1	PEX12	MRPS22	DZIP1L	LDLR	PLD1	POMT2	SOX4	EVC2	KLF11	FOCAD	SDHC	PTEN	HNF4A	COG1	DCHS1	BUD23	POU3F4	PGAP2	LONP1	RPS20	MIA3	COL4A4	COX14	CWC27	AGPAT2	LPIN2	CCND2	TTC26	LEMD3	PPP2R3C	SERPINH1	ZNFX1	TBCK	DNASE2	MT-ND3	PPP1R15B	SSR4	SEC63	SOX10	NEUROD2	LAMA3	BBS4	JMJD1C	AKR1D1	COPA	MAP2K1	FANCG	PEX26	HRAS	MT-CO3	MYO5B	BTNL2	YY1AP1	SNRPB	PCSK9	CHRNA3	WBP11	HPSE2	UBA2	BBIP1	FGF17	IFT122	STIL	HAAO	APC	UBE2T	HNRNPU	PHC1	PPP3CA	TLR4	B4GAT1	CEP19	NARS2	APOL1	SHPK	MNX1	AVIL	FH	SMARCA4	NDUFB8	LIG4	KCNJ1	SCN2A	ADGRG2	SMC1A	TMEM138	CEACAM6	CD96	PNPLA2	TCTN1	TXNDC15	TBX3	GCM2	GCLC	RMND1	HLA-DPB1	DMXL2	KIAA0586	LAGE3	APC2	KIF7	HFE	CTLA4	PDPN	SCO2	SAA1	ATP6V1B2	CLIP2	XDH	SMARCD1	PDE6D	BUB3	TFAP2A	ALKBH8	MYH11	GP1BA	GNB2	MDH2	REN	CFI	KCNN4	MYLK	COLEC10	POGZ	FBLN5	ZIC2	BRCA1	PACS1	TASP1	NDUFAF6	NSD1	SMS	SCARF2	CENPF	DDB1	APOB	TBX15	AKT3	WNT9B	SLC6A14	CDK5RAP2	SPINK5	COMT	C1QC	FUT8	ASPM	IFT27	SLC5A1	IL17RD	CEP135	LAMB2	CDKN1A	SMARCE1	AHI1	CFH	PIGP	ARMC5	CEP83	HLA-DPA1	FGF23	ZPR1	KCNE5	CEACAM3	AMER1	BNC2	KRT17	USP8	PLEC	DLST	TGIF1	ITGA3	LDLRAP1	C1QA	DSTYK	CLDN16	RPS26	FANCD2	BBS12	PYCR2	CLCN7	HDAC8	WFS1	NDUFS2	PSMC1	RORA	GDF2	GTF2IRD1	STX3	PTH	SMAD4	BCS1L	CDKN2B	MAPK1	ACTG1	SLC34A2	MYCN	WDPCP	RPL27	MYMK	KNL1	IQSEC2	BRF1	SLX4	UBR1	CTH	SARS2	STS	TMEM237	DLK1	GALNT3	RFC2	DDX6	ZNF423	TBL2	GEMIN4	PPFIBP1	CD81	TACR3	KCNAB2	PIK3R2	WDR62	DLL1	RPL5	KCNA1	VDR	DNAJC30	KCNJ11	PROK2	MT-TE	CEP57	NIPBL	FKRP	FIG4	BSCL2	H4C5	HMGA2	SLC35A2	RECQL4	IL12A	TOGARAM1	PDE11A	TSR2	TOR1A	SMC3	PRIM1	SF3B2	COG6	ROBO2	INTS1	SMOC1	GSTM3	KCNJ2	CCR1	MT-CO2	INTU	CASP10	BBS7	PGAP3	BBS9	CEP152	SLC6A20	RPL35	NSDHL	PGM1	OTUD5	HOXD13	RAD51	CA2	UFD1	ARHGAP24	SDHAF2	PNKP
HP_ABNORMAL_RENAL_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_PHYSIOLOGY	FOXP3	SLC4A1	CEP290	NLRP3	MT-ND4	HPRT1	SDHB	ITGA2B	LMX1B	VPS37D	B2M	TREX1	VHL	KYNU	ZNF699	ITGA2	CPT2	ETFA	SLC41A1	SLC25A20	DNMT3A	RMRP	SETD2	MT-TK	DNASE1	ALG1	GLIS2	APPL1	IFIH1	MAGED2	CLCNKA	CYB561	CFB	RASGRP1	GNAS	CDK4	AVPR2	SRY	TMEM67	PUS3	NPHS1	ITGA6	TRAF3IP1	ATP7B	APOA1	MAX	XPNPEP3	GP9	VPS33A	PALB2	HNF1B	PKD1	CLCN5	GP1BB	RPGRIP1L	KCNJ10	CPT1A	ALMS1	BRCA2	MYO1E	PGK1	WT1	PRTN3	LYZ	LAMA5	TTR	VIPAS39	CLDN10	HGD	COL4A3	MAFB	ERCC8	SLC3A1	HPS1	PGM3	FKBP6	NPHP3	CC2D2A	NDUFA1	SLC12A1	VPS33B	CASR	IFT43	SULT2B1	RNU7-1	CSPP1	PAX2	PYGM	MAD2L2	SMARCAL1	CDC73	SLC37A4	NDUFV2	ACTN4	HBB	TRIP13	COL4A1	MPI	SLC30A9	COL4A5	MMUT	ABCC8	CEP164	TPRKB	BRIP1	SDHA	DGKE	IL12A-AS1	SDR9C7	LIPN	CLCNKB	RAD21	CASP10	NDUFS4	MT-ND5	CLDN19	GCK	SCNN1B	FAH	LAGE3	SLC12A3	CFHR1	IL6	KCTD1	SLC26A4	NR0B1	PAFAH1B1	MT-TL1	CRB2	SALL1	NEUROD1	CLPB	NUP93	PAX6	HIC1	WDR19	GATA4	ZNF423	UMOD	ABCA12	SLC25A11	EPAS1	STAT3	SURF1	CISD2	TTC21B	RAG1	KIF1B	TRIM28	MEFV	CYP24A1	TBX1	KIRREL1	GATA3	SLC7A7	ALDH4A1	VAC14	NDUFS1	INF2	BAZ1B	DAAM2	PKHD1	OCRL	CCND1	ALDOB	DNAJB11	WDR73	PRKCD	TMEM237	NPHS2	ETFDH	BSND	EIF4H	SHANK3	MTRR	CPOX	IL17RA	TTC8	COQ8B	IFT140	LZTFL1	MT-TF	PDSS2	KLRC4	SLC34A1	AGXT	CD2AP	PHKG2	SCAPER	NDUFAF3	APRT	JAK1	MYD88	PRDX1	RYR1	ACE	ELP1	NUMA1	ACSL4	C3	ASPRV1	FAS	EIF2AK3	FANCC	TMEM260	DNASE1L3	BRD4	FCGR2B	UNC13D	SH2B1	HMOX1	TCN2	ACP5	MMACHC	GCDH	POLRMT	ANLN	COL3A1	IL10	STAT1	BBS10	PEX7	NR5A1	LMNB2	KCNJ5	ZMPSTE24	SIX5	ERCC6	PLG	METTL27	INPP5E	XYLT1	STAT4	ADAMTS13	NUP85	H19	GLA	MT-TH	CLEC7A	AQP2	MARS1	CTNS	INS	ARHGDIA	TMEM231	PTPRO	PTPN22	SLC22A12	CHD4	IFNG	PMM2	JAG1	SCARB2	PDX1	PRKAR1A	ZAP70	NEK8	ERAP1	ACVRL1	NUP37	SOX18	VANGL1	BCL7B	GPR35	HSD11B2	GON7	HLA-B	CFAP418	NCF1	COL7A1	BBS1	EFEMP2	CEL	DIS3L2	ANKFY1	IFNGR1	MME	ABCC6	SDCCAG8	SPP1	NOTCH2	FASLG	LMAN1	UMPS	CD46	IFT172	MED12	RASA1	FANCI	NDUFS8	MLXIPL	RARA	TAOK1	NDUFB9	ERCC4	YRDC	IL17F	SDHD	CEP120	GSN	XRCC2	REST	NDUFB3	NUP160	ELN	KCNJ11	NUP133	NDUFS2	IQCB1	SGPL1	C1QBP	OSGEP	TRIM32	NDUFAF8	NDUFAF5	NABP1	WAS	FCGR2A	MT-CO1	TSC1	C4A	MT-ND3	DZIP1L	FLT1	VAMP7	DHX37	MKKS	RAD51C	KLF11	ALDOA	IL23R	RRM2B	RAG2	SDHC	GPC3	SLC7A9	NPM1	EMP2	HELLPAR	COG1	FANCF	AGGF1	COL4A6	HOXA13	SLC2A2	BUD23	NUP107	LAMB2	NFS1	STX11	CAD	ALOXE3	AP2S1	NEXMIF	SLC26A1	CD109	NIPAL4	MT-ND2	PLCE1	NPHP1	COL4A4	CORIN	NDUFAF6	ITGB3	NDUFS3	WFS1	CHST14	TMEM138	PIGA	MMP1	FANCM	LPIN2	TTC26	MT-TN	FXYD2	HNF4A	ZNFX1	DNASE2	NF1	WDR35	DSTYK	EHHADH	COPA	SLC34A3	FANCE	AMMECR1	FANCG	APOE	MT-CO3	F8	MYO5B	IL17RC	BTNL2	TBL1XR1	YY1AP1	CHRNA3	ATP1A1	BCS1L	HPSE2	MT-ND1	BBIP1	WDR4	CFI	IRF2BP2	WIPF1	NDUFB10	FANCB	NPHP4	IFT122	FBXL4	PC	UBE2T	FIP1L1	ATP6V1B1	MYOCD	CFH	GATM	ZFPM2	TLR4	CYBC1	CEP19	CHRM3	THBD	APOL1	TSC2	SHPK	TRIM8	STAT5B	ZNF592	PBX1	AVIL	FH	BBS5	NDUFB8	ALOX12B	WWOX	KCNJ1	SMC1A	NUBPL	FOXI1	DYNC2I2	BLK	YAP1	DYNC2I1	NDUFS7	SOCS1	MDM2	SPRY2	MAGI2	DHDDS	TRAF3IP2	GCM2	GRHPR	NUP205	RMND1	NDUFA11	HLA-DPB1	EHMT1	IKZF1	KIAA0586	HRAS	APC2	MT-ND6	BBS9	CA2	FN1	CTLA4	ETFB	IFT27	COA8	TGM1	FANCA	PHYH	TRPC6	COQ6	GBA1	SCO2	ANKS6	SAA1	MT-TS2	CLIP2	XDH	BCOR	RFWD3	MT-TQ	TMEM165	RET	PML	BBS2	DYNC2H1	DMRT3	NDUFAF2	SREBF1	SLC2A9	DCDC2	SPTBN1	CFHR3	NOS1AP	CCN2	MYH11	DYNC2LI1	PRF1	TMEM216	GP1BA	ADA	NDUFV1	TMEM127	COQ2	MDH2	MAPKBP1	PRPS1	CAV1	REN	PNPLA6	PGAM2	FBLN5	FGA	OFD1	BRCA1	EPG5	TMEM126B	DMP1	PRODH	NSD1	LPIN1	KANK2	TCF4	IRF5	UQCC2	ATP6V0A4	NDUFAF1	PPOX	PHEX	C1QC	HNF1A	FAM20A	FUZ	LHX1	HMBS	BICC1	SLC4A4	IRAK1	SLC5A1	NTRK1	HLA-DRB1	TBX18	SLC5A2	G6PC1	TBC1D8B	AHI1	PLVAP	NDUFS6	MUC1	CEP83	BBS4	HLA-DPA1	KCNE5	SCNN1G	FAN1	NDUFAF4	P4HA2	IFT80	BNC2	CCNQ	DACT1	ALG5	DLST	TP53RK	CYP4F22	ITGA3	ADA2	MOCOS	C1QA	PKD2	CLDN16	PHKA2	ALDH18A1	BBS12	IL7R	LTBP1	MYH9	HDAC8	SLITRK6	ENPP1	AGT	GDF2	GTF2IRD1	OCLN	STX3	CHD7	PEX19	STXBP2	SMAD4	PAX4	LRIG2	XYLT2	IL2RG	SLC34A2	MYCN	WDPCP	CUBN	EYA1	GAPVD1	NDUFA6	SARS2	STS	MKS1	GALNT3	RFC2	NADK2	FANCD2	LRP2	POU6F2	MT-TT	TBL2	F2	F5	CD81	GTF2I	HMGA2	ITPR3	CFHR5	SOX9	AGTR1	STX1A	ITGB4	STAT2	SLC17A5	NOD2	DNAJC30	MT-TE	SRCAP	FIG4	ZBTB16	KARS1	MEN1	SLC35A2	TIMMDC1	TRMT5	GANAB	IFT74	IL12A	FOXRED1	CD151	CCR6	SERPINF2	LIG4	SMC3	HOGA1	MCFD2	COG6	ARL6	SEC61A1	SNAP29	MAP3K1	PKDCC	LCAT	LDHA	SCNN1A	MST1	SON	KCNJ2	CCR1	CACNA1S	DCLRE1C	SLX4	MT-CO2	NIPBL	BBS7	GTF2IRD2	LIMK1	FANCL	SIX1	LEMD3	STOX1	TOM1	TMEM270	YWHAE	SEMA4D	INVS	ENG	PHKB	F10	UBAC2	NDUFB11	MT-TW	C1QB	SERPINA1	RAD51	ALG9	ARHGAP24	SDHAF2
HP_ABNORMAL_GLOMERULAR_FILTRATION_RATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GLOMERULAR_FILTRATION_RATE	CYB561	PAX2	DNAJB11	MUC1	BICC1	PBX1	ITGA3	SLC2A9	UMOD	PKD2	BSND	PUS3	SLC37A4	HGD	IFT140	SLC22A12	PKD1	CLCNKA	SLC7A7	CASR	ALG9	G6PC1	GANAB	CLCNKB	ALG5	AGXT
HP_INCREASED_URINARY_PORPHOBILINOGEN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_URINARY_PORPHOBILINOGEN	PPOX	GATA1	CPOX	HFE	ALAD	UROS	HMBS
HP_ERYTHEMA_NODOSUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERYTHEMA_NODOSUM	NOD2	BTNL2	XIAP	ADA2	HLA-DRB1	PSMB8	LRBA	NLRP12
HP_ARACHNOID_HEMANGIOMATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARACHNOID_HEMANGIOMATOSIS	TMEM127	KIF1B	NF1	GNAQ	SDHB	SDHD	MAX	MDH2	FH	SDHA	SDHC	SLC25A11	VHL	RET	DLST	SDHAF2
HP_URETHRAL_STRICTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETHRAL_STRICTURE	COL7A1	CDC45	MKKS	ZMYM2	FLT4	POLA1	TERT	PLEC	TINF2	LAMA3	MMP1	LAMC2	ITGA6	ITGB4	LAMB3	FERMT1	PKP1
HP_CSF_PLEOCYTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CSF_PLEOCYTOSIS	UNC13D	TICAM1	PRRT2	TBK1	NOTCH2NLC	SAMHD1	RNASEH2C	RNASEH2A	PRF1	SLC13A3	ATP1A2	TRAF3	LSM11	STXBP2	TLR3	TREX1	STX11	CACNA1A	RNU7-1	IFIH1	ADAR	RNASEH2B	UNC93B1	IRF3	SCN1A
HP_RHEGMATOGENOUS_RETINAL_DETACHMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RHEGMATOGENOUS_RETINAL_DETACHMENT	LRAT	COL2A1	LCA5	ZNF408	RPE65	TSPAN12	LRP5	FZD4	SPATA7	CTNNB1	NDP
HP_EXUDATIVE_RETINAL_DETACHMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXUDATIVE_RETINAL_DETACHMENT	FRG1	CFH	CFI	IGFBP7	EFEMP1
HP_SHORTENED_QT_INTERVAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORTENED_QT_INTERVAL	KCNQ1	KCNJ2	MEN1	CACNA1C	CDC73	KCNH2	CDKN2C	CACNA2D1	CDKN2B	CDKN1B	SLC4A3	CACNB2	CDKN1A
HP_INTRAMUSCULAR_HEMATOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRAMUSCULAR_HEMATOMA	F2	F13A1	SERPINE1	F7	F13B	F10	F8	SERPINF2
HP_INCREASED_INTRAMYOCELLULAR_LIPID_DROPLETS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_INTRAMYOCELLULAR_LIPID_DROPLETS	ISCU	SCN4A	COX6A2	MT-TN	CHCHD10	CACNA1S	NDUFS4	SDHA	MSTO1	COQ8A	NDUFA4	SURF1	KCNJ18	KCNE3	ABHD5	PNPLA2	AFG3L2	SUCLG1	GABRA3
HP_ABNORMAL_SEX_DETERMINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SEX_DETERMINATION	SRY	SOX9	CYP11A1	DMRT3	DHH	GATA4	AKR1C2	NR5A1	CYP17A1	WNT4	ZFPM2	WWOX	AKR1C4	RSPO1	CILK1	CBX2	WT1	NR0B1	MAP3K1	CYB5A	VAMP7	DHX37
HP_SEX_REVERSAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEX_REVERSAL	SRY	RSPO1	WNT4	SOX9	CYP11A1	CILK1	CBX2	DHH	AKR1C2	NR5A1	MAP3K1	NR0B1	ZFPM2	AKR1C4
HP_OCULOMOTOR_NERVE_PALSY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCULOMOTOR_NERVE_PALSY	PLEC	NF2	SMARCE1	UGT1A1	CDH23	MEN1	BAP1	CHN1	SMO	TRAF7	SUFU	AKT3	AIP	PIK3CA	ENG	TERT	MYMK	SMARCB1	AKT1	MTOR	THSD1	SALL4	PDGFB	TGFBR3	TRPV4	MAFB	ANGPTL6	COL3A1
HP_PROLONGED_PR_INTERVAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLONGED_PR_INTERVAL	GPD1L	SCN5A	NKX2-5	TLL1	DSG2	CLCNKB	KCNA5	GNB5	SCN2B	SLC12A3
HP_ABNORMAL_ST_SEGMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ST_SEGMENT	SCN10A	TBX20	TRPM4	RANGRF	CLCNKB	TLL1	SCN2B	GATA6	SCN1B	SEMA3A	GPD1L	PKP2	SCN3B	POLG	SCN5A	MYH6	CITED2	GYG1	SCNN1A	TNNC1	CACNA2D1	ABCC9	KCND3	AKAP9	KCNE5	KCNJ8	NKX2-5	SLMAP	RYR1	PRKAG2	ACTC1	KCNE3	CACNB2	RAF1	GATA4	HCN4	CACNA1C	SLC12A3
HP_ST_SEGMENT_DEPRESSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ST_SEGMENT_DEPRESSION	TBX20	CLCNKB	TLL1	GATA6	NKX2-5	RYR1	PRKAG2	ACTC1	MYH6	CITED2	GATA4	TNNC1	SLC12A3
HP_ST_SEGMENT_ELEVATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ST_SEGMENT_ELEVATION	SCN10A	TRPM4	RANGRF	SCN2B	SCN1B	SEMA3A	GPD1L	PKP2	SCN3B	POLG	SCN5A	GYG1	SCNN1A	CACNA2D1	ABCC9	KCND3	AKAP9	KCNE5	KCNJ8	SLMAP	PRKAG2	KCNE3	CACNB2	HCN4	CACNA1C
HP_DYNEIN_ARM_DEFECT_OF_RESPIRATORY_MOTILE_CILIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYNEIN_ARM_DEFECT_OF_RESPIRATORY_MOTILE_CILIA	TTC12	NME8	DNAAF5	DNAAF3	DNAAF1	ODAD3	DNAL1	ZMYND10	CFAP300	DNAH9	DNAAF11	CCDC39	SPAG1	ODAD1	CFAP298	DNAI2	DNAI1
HP_ABSENT_OUTER_DYNEIN_ARMS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_OUTER_DYNEIN_ARMS	TTC12	DNAAF5	DNAAF3	DNAAF1	ODAD3	DNAL1	ZMYND10	CFAP300	DNAH9	DNAAF11	ODAD1	CFAP298	DNAI2	DNAI1
HP_ABSENT_INNER_DYNEIN_ARMS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_INNER_DYNEIN_ARMS	TTC12	ZMYND10	CFAP300	DNAAF11	CCDC39	DNAAF3	DNAAF1
HP_ABSENT_INNER_AND_OUTER_DYNEIN_ARMS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_INNER_AND_OUTER_DYNEIN_ARMS	TTC12	ZMYND10	CFAP300	DNAAF11	DNAAF3
HP_ABNORMAL_RESPIRATORY_MOTILE_CILIUM_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RESPIRATORY_MOTILE_CILIUM_PHYSIOLOGY	TTC12	GAS8	DNAAF2	DNAH5	CCDC65	DNAAF3	DNAAF1	DNAL1	RSPH3	CCDC39	SPAG1	CCDC103	DNAI2	STK36	DNAI1	DNAAF4	RSPH9	NME8	DNAAF5	RSPH4A	CCNO	ODAD3	RSPH1	CCDC40	HYDIN	ZMYND10	DRC1	ODAD2	DNAH11	DNAH9	DNAAF11	ODAD1	DNAJB13	CFAP298
HP_IMMOTILE_CILIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMMOTILE_CILIA	TTC12	ZMYND10	DNAAF4	DNAAF11	RSPH4A	CFAP298	DNAAF3	DNAAF1	RSPH1	DNAI1	RSPH3
HP_ABNORMAL_MUSCLE_GLYCOGEN_CONTENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MUSCLE_GLYCOGEN_CONTENT	PHKA2	PHKG2	PYGM	MSTO1	ENO3	GAA	PHKA1	PFKM	PHKB	GYS1	GYG1	MT-TE	TRMU
HP_DIGITAL_FLEXOR_TENOSYNOVITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIGITAL_FLEXOR_TENOSYNOVITIS	PTPN22	TTR	IL10	NFKBIL1	CIITA	CD244	SLC22A4
HP_ABNORMAL_CIRCULATING_SERINE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_SERINE_CONCENTRATION	PSAT1	PHGDH	SLC7A7	PSPH	SLC25A13
HP_ABNORMAL_HYPOTHALAMUS_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HYPOTHALAMUS_PHYSIOLOGY	DISP1	SMARCE1	CCDC141	PROK2	FGF17	FGFR1	ZIC2	STIL	PLCH1	CHD7	FGF8	TGIF1	DLL1	PIK3CA	TERT	SMARCB1	SHH	GAS1	NODAL	GLI2	CDON	STAG2	SEMA3A	PTCH1	DCC	TDGF1	SIX3	MAGEL2	HESX1	BAP1	HS6ST1	SMO	FOXH1	PDGFB	NDNF	LHX3	TRH	DUSP6	TRAF7	SUFU	FEZF1	IL17RD	AKT1	SMC1A	NF2	ANOS1	SOX10	TACR3	SPRY4	FLRT3	PROKR2	SIM1	WDR11
HP_ABNORMAL_HYPOTHALAMUS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HYPOTHALAMUS_MORPHOLOGY	CPLANE1	FAM149B1	KIF7	SPG11	CTNNB1	TOPORS	BRAF	SMO	GLI3	CDH2	SOX2	VPS16	OFD1	MAN2C1	SIX6	TMEM216	LEPR	TIAM1	TCTN3	PDE6D	KIAA0753
HP_NEOPLASM_OF_HEAD_AND_NECK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_HEAD_AND_NECK	TOM1	SDHB	WWOX	RAD21	RHBDF2	TGFBR2	SDHA	ASCC1	STK11	SDHC	RNF6	PDE11A	TP53	STAT1	CHEK2	FOXE1	KIT	AAGAB	DLEC1	MDM2	FH	COL4A6	PRKAR1A	MSR1	COL4A5	PDGFRA	MINPP1	CTHRC1	APC	HABP2	COL14A1	CTNNB1	CDKN2A	BLM	DCC	LZTS1	MYH11
HP_ABNORMAL_OCCIPITAL_BONE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_OCCIPITAL_BONE_MORPHOLOGY	UBE3A	TWIST1	TBC1D24	ADSL	MAN1B1	ITCH	MYCN	CYP27B1	DLL3	IL11RA	HES7	PLAGL1	TBX6	KIF7	SNRPN	FIG4	PTCH1	PEX11B	ZIC1	RTTN	ALX4	CNOT1	RNU4ATAC	WASHC5	TFAP2B	PEX12	CDKN1C	SMG9	PEX14	ERF	PEX26	IFT52	TOR1A	PEX3	METTL23	GDF11	PEX5	PEX10	WDR35	NFIX	PEX1	TAF1	CDK13	DPM1	OTUD6B	CTSK	B3GALT6	PEX2	VAC14	RELN	FLNA	CHUK	HK1	KRAS	CCDC22	ASPM	PEX6	SH3PXD2B	IFT122	SATB2	NRAS	TMEM70	IFT81	RPS23	PPP1R21	KATNB1	GJA5	NOTCH2	PEX19	MOGS	MAN2B1	PEX16	NDE1	OCA2	IFT43	KIF11	PIGA	MCTP2	HRAS	SOX6	EHMT1	LEMD3	GJA8	WDR19	KAT6B	LFNG	PEX13	OCRL	HYMAI	IGF2	EZH2	INPPL1	WDR73	TUBB3	SLC35A1	RIPPLY2	SLC34A3	CYP2R1	MED12	SLC25A12	ATP7A	RALGAPA1	ATP6V1B2	FLNB	PIGN	SYNE1	KCNQ1OT1	MESP2	KCNQ1	SETD1B	VDR	AMER1	GLI3	CNOT3	UBE3B
HP_TYPE_II_TRANSFERRIN_ISOFORM_PROFILE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPE_II_TRANSFERRIN_ISOFORM_PROFILE	COG6	COG5	COG1	ATP6AP1	COG7	MGAT2	SLC37A4	SLC39A8	ATP6AP2	COG4	MAN1B1	B4GALT1	COG8
HP_HERPES_SIMPLEX_ENCEPHALITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HERPES_SIMPLEX_ENCEPHALITIS	STAT1	TBK1	NCKAP1L	HYOU1	SNORA31	IRF3	TICAM1	UNC93B1	TLR3
HP_ABNORMAL_AORTIC_ARCH_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_AORTIC_ARCH_MORPHOLOGY	PIGN	CREBBP	PLXND1	EP300	MYCN	SEMA3E	ESS2	SEC24C	DGCR2	GATA6	DNAH1	ACVR2B	TBX1	FOXF1	GJA1	BCOR	GDF1	WDR26	TTC26	CHD7	GNB2	IPO8	HIRA	MAP3K7	MEG3	FLT4	MCTP2	WT1	GLI3	KRAS	NKX2-6	RTL1	DNAH9	PLD1	PPP2R1A	SMG9	SUCLG1	CRELD1	DLK1	MYRF	ALG3	NKX2-5	GP1BB	ARVCF	DGCR8	FGFR1	PUF60	PIK3R2	JMJD1C	ZIC3	RREB1	SF3B2	CIROP	MMP21	DGCR6	PKD1L1	STRA6	DIS3L2	CFAP53	COMT	UFD1	GBA1	PPP1CB	TMEM260
HP_HYPOPLASTIC_AORTIC_ARCH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_AORTIC_ARCH	CREBBP	GNB2	MAP3K7	EP300	NKX2-5	PUF60	FOXF1	ZIC3	GJA1	PPP2R1A	BCOR	PPP1CB	CIROP
HP_ABNORMAL_RIB_OSSIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RIB_OSSIFICATION	COL10A1	MGP	LBR	BMPER	SBDS	DNAJC21	SRP54	EBP	SLC26A2
HP_CUTANEOUS_AMYLOIDOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTANEOUS_AMYLOIDOSIS	NLRP1	RET	IL31RA	POLA1	B2M
HP_MONOCYTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MONOCYTOSIS	ELANE	NRAS	TCIRG1	PIK3CD	GFI1	IKBKB	SRP54	ZNFX1	G6PC3	KRAS	CLPB	DDX41
HP_MONOCYTOPENIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MONOCYTOPENIA	WAS	PIK3CG	RAC2	CARD11	IRF8	GATA2
HP_FIBROUS_TISSUE_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FIBROUS_TISSUE_NEOPLASM	SPRED1	PTCH2	SMARCE1	FAM20A	PRLR	TSC1	SPTBN1	SDHD	APC	SDHB	NF1	REST	FAS	PDGFRB	FAM20C	USF3	PIK3CA	TERT	SMARCB1	PDE8B	ABCA5	CREB1	ATP6V1B2	CDKN1B	PTEN	TSC2	KCNH1	SEC23B	MLH1	FLNA	PRKAR1A	PDE11A	RASGRP1	MSH2	MSH6	BAP1	IFNG	BMPR1A	SMO	SOS1	COL4A6	MTAP	IL6ST	KIT	SDHC	PDGFB	CDKN2B	KRAS	MEN1	NRAS	NOTCH3	LRP1	ANTXR2	CTNNB1	PRKACA	PRKCD	TRAF7	SUFU	ELMO2	CASP10	AKT1	HRAS	FASLG	CDKN1A	PTCH1	NF2	CDC73	KCNN3	DHCR24	COL4A5	PLCD1	KLLN	CDKN2C	GREM1	KRT17	RSPRY1
HP_MYELOID_LEUKEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYELOID_LEUKEMIA	MAP2K1	F13A1	NF1	IDH1	CBL	BRAF	F13B	PTPN11	NRAS	KRAS	DNMT3A	KIT	SETBP1	TERC	SRSF2	TERT	ARHGAP26	TET2	ASXL1	SAMD9L	GATA2
HP_PYELONEPHRITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PYELONEPHRITIS	HOXA13	KCTD1	IFT140	ALDH18A1	DNAJB11	ELN	PKD1	BICC1	XDH	LTBP1	CFI	BNC2	FBLN5	MED12	ALG9	MYH11	GANAB	PKD2	ALG5	EFEMP2	SHANK3
HP_ABNORMAL_AUTONOMIC_NERVOUS_SYSTEM_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_AUTONOMIC_NERVOUS_SYSTEM_PHYSIOLOGY	ATXN8OS	SLC1A3	PODXL	SOX10	VPS35	POU2AF1	ASCL1	TBP	COL5A2	ADH1C	SCN3A	SNCA	CYP11B2	CAV3	CALM2	DEPDC5	GNB2	SPG11	CAV1	POLR3A	MT-TT	PRKN	RET	ECE1	PSAP	DNAJC13	HTRA2	GBA1	ATP7A	NOS1AP	CYB561	NR4A2	COQ2	SPIB	SCN10A	SLC6A2	ATP1A3	DBH	GABBR2	CISD2	GIGYF2	GLUD2	CALM3	FBXO7	FMR1	IRF5	WDR45	LRRK2	PPOX	HEXB	PINK1	EIF4G1	PHOX2B	VPS13C	SNCAIP	SYNJ1	SIM1	VPS13A	KCNQ1	ATP1A2	MAPT	SCN9A	KCNE1	SLC18A2	SCN11A	WFS1	LMNB1	VPS11	LIFR	CALM1	TTR	MMEL1	LGI1	CACNA1A	GLA	NTRK1	LEPR	ARSA	GMPPA	PRNP	ERBB3	KCNE2	B2M	ACOX1	SCN4B	IL12RB1	UCHL1	AKAP9	ZFHX4	ANK2	MECP2	ATXN2	RFC1	SNTA1	TUBB3	CACNA1C	PARK7	GFAP	TBX5	AAAS	TNPO3	BRAT1	TRDN	ATXN3	IL12A	ELP1	CCT5	LEP	COL1A1	RELN	TSPYL1	COL5A1	DNAJC6	TNFSF15	GSN	PLA2G6	SCN5A	KCNH2	COL25A1	KCNJ5	CHRNA3	KIF1B	TXN2	GBE1	CHCHD2
HP_EXTRAHEPATIC_CHOLESTASIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXTRAHEPATIC_CHOLESTASIS	SMAD4	KRAS	RABL3	CDKN2A	PALB2	BRCA1	PALLD	CDKN1B	TP53	BRCA2
HP_ABNORMALITY_OF_FOLATE_METABOLISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FOLATE_METABOLISM	FTCD	HLA-DQB1	AMN	SLC46A1	OTUD5	CUBN	ZNF699	SPTBN1	HLA-DQA1
HP_ABNORMAL_GLYCOSYLATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GLYCOSYLATION	DPM2	STT3B	ATP6AP1	SLC35A2	MGAT2	COG2	B4GALT1	ATP6V1E1	COG5	STT3A	ALG8	ATP6V0A2	GALNT2	COG7	ALG1	DPM3	DDOST	SRD5A3	ATP6AP2	ALG11	MAN1B1	SSR4	COG8	DPAGT1	TMEM199	ATP6V1A	EDEM3	CCDC115	DOLK	COG1	SLC39A8	COG4	ALG2	PGM1	ALG13	RFT1	ALG6	MPI	PMM2	COG6	ALG3	SLC37A4	CAD	MPDU1	FKTN	MAGT1	DPM1
HP_ABNORMAL_PROTEIN_GLYCOSYLATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PROTEIN_GLYCOSYLATION	DPM2	ATP6AP1	SLC35A2	MGAT2	B4GALT1	ATP6V1E1	COG5	ALG8	ATP6V0A2	GALNT2	COG7	ALG1	DPM3	DDOST	SRD5A3	ATP6AP2	ALG11	MAN1B1	SSR4	COG8	DPAGT1	TMEM199	ATP6V1A	EDEM3	DOLK	COG1	SLC39A8	COG4	ALG2	PGM1	ALG13	RFT1	ALG6	MPI	PMM2	COG6	ALG3	SLC37A4	MPDU1	MAGT1	DPM1
HP_ABNORMAL_PROTEIN_O_LINKED_GLYCOSYLATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PROTEIN_O_LINKED_GLYCOSYLATION	COG4	DPM2	ATP6AP1	GALNT2	DPM3	SLC37A4	TMEM199	SLC35A2
HP_DECREASED_URINARY_POTASSIUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_URINARY_POTASSIUM	KCNJ18	CACNA1S	CLCNKB	SERPINA6	GABRA3	SLC12A3
HP_FLAT_FACE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLAT_FACE	SLC26A2	SOX9	MN1	KAT5	HSPG2	MATN3	FGFR2	MAF	KIAA0753	ABCC9	COL3A1	B3GALT6	ADAMTS3	PEX11B	COL11A1	PRMT7	FAT4	CCBE1	EHMT1	PAX3	AMMECR1	PEX12	CAMK2G	CDH1	CDCA7	PEX26	GLB1	TWIST1	LONP1	SLC39A8	WNT5A	CHST3	ZBTB24	ALG2	TRIP11	PEX3	TAPT1	PEX5	FN1	PEX10	DNMT3B	PAK3	COL9A1	B4GALT7	SMARCA2	COL11A2	EBP	SUMF1	PEX1	KIF22	RAD21	HELLS	PEX2	COL9A2	FLNA	PAICS	CREBBP	GNPTAB	PEX6	FLNB	MAPRE2	PPP1R12A	TMEM70	DVL1	RAB5IF	PEX19	PEX14	EP300	LOXL3	MYH3	PEX7	FGFR3	SMC3	FBXO31	PEX16	XYLT1	CTNND1	PLOD3	ATRX	TBX22	BPNT2	PPP2R3C	COL2A1	KMT2A	DCPS	GATA1	TMCO1	PEX13	COL9A3	CDH11	BRPF1	ATP6V0A2	B3GAT3	GAD1	PDE4D	DEAF1	TUBB	GPC6	AMER1	ROR2	MAN2B1	GUSB
HP_HEMIANOPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMIANOPIA	MT-TQ	ADGRV1	AMACR	SMARCE1	CDH23	MT-TS2	TUBB2B	MEN1	WHRN	PCDH15	TREX1	MT-CYB	MT-ND6	GPR101	USH1C	TRAF7	SUFU	MT-TV	MT-CO2	PIK3CA	BAP1	TERT	CTNNB1	MT-ND5	SMARCB1	AKT1	BRAF	HARS1	MT-TC	MT-ND1	CEP78	MYO7A	SETD5	MT-TK	MT-TL1	USH2A	ARSG	NF2	GNAQ	MT-CO3	CLRN1	ESPN	MT-TF	SMO	MT-TW	AARS1	AKT3	AIP	USH1G	MTOR	PDZD7	PDGFB	CIB2	PRORP	MT-CO1
HP_FATIGUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FATIGUE	MDM4	PMS1	NLRP3	SDHB	IRF2BP2	WIPF1	POU1F1	NKX2-1	FIP1L1	BRCA1	CITED2	VHL	TET2	TSHR	UBA1	STAT6	TCF3	TBK1	PSAP	ATXN2	FUS	TLR4	DNMT3A	HFE	CFH	PRPH	TP53	TSC2	ASXL1	SMAD2	JAK2	RRM2B	STAT5B	SLC11A1	STEAP3	SPIB	MSH2	AGK	FH	HMGCL	ATP13A2	MEN1	FTL	GRM1	AIP	PTPN3	MAX	BCR	PHIP	POLG	SLC3A1	HAVCR2	IGHM	CPT1A	KPNA3	CDH23	ARMC5	ERBB4	PRTN3	PIK3R1	PON2	PDGFRA	RIN2	TXNRD2	HLA-DPB1	MYL2	CHCHD10	IKZF1	SLC26A4	ARNT2	ACTC1	TPM2	FOXP1	IL12RB1	XPC	WAS	SOX3	LHX3	PYGM	TRIO	CDC73	CTNNB1	IL12A	KIT	GBA1	SLC2A10	SLC4A1	IMPDH2	PON3	HLA-DRB1	HACD1	NNT	BCOR	TAF15	MPL	SDHA	IL12A-AS1	ALB	GATA4	RET	TFR2	PML	IGKC	POU2AF1	ATRX	GATA6	SLC25A4	BMP6	PAX8	SPTBN1	SCNN1B	ABCC9	OPA1	DNAJC6	BLNK	SLC12A3	BRCA2	PFN1	MORC2	TMEM127	CARMIL2	HLA-B	COQ2	CAV3	MDH2	IL12B	FIG4	DDB2	MLX	PIGT	KRAS	SRSF2	EIF2AK4	MRAP	ERCC2	SLC40A1	TARDBP	BCL6	PROP1	SLC25A11	EPAS1	STAT3	RAPSN	TCF4	LBR	MSH6	TRAF3	KIF1B	PTPN22	STAR	NR4A2	SQSTM1	SELENON	TK2	ALDH4A1	PON1	POLR3GL	GIMAP5	CCND1	SLC18A2	IL18BP	OTX2	CCNF	DCTN1	SMAD3	INSR	PREPL	SOD1	DNM1L	NLRC4	BMPR1A	SEMA4A	HBA2	ITGA7	IL10	KLRC4	THRB	ABL1	DAO	NFKB2	PLEC	PHKG2	FGFR1	SDHD	MYD88	ACTA1	MC2R	HLA-DPA1	MYH7	SCNN1G	COL1A2	NUMA1	GPR101	P4HA2	FOXE1	COL5A1	FOXA2	SYNJ1	COL9A2	UNC93B1	ERCC5	EPHA4	DLST	NR3C1	TBX20	MAP3K20	MATR3	HBA1	ATM	NEK1	GATA2	TSHB	UNC13A	RACGAP1	PHKA2	MALT1	PPARGC1A	IL21	CD244	STAT4	TWNK	SLC18A3	TRHR	GLA	CIITA	ABCC2	KCNN4	FAN1	PODXL	PLEKHM1	DBH	SH2B3	GCK	TREM2	IRF4	DMD	GLE1	PROKR2	SLC34A2	ERCC3	PRKAR1A	CTLA4	ERAP1	ACADM	SCN5A	TICAM1	NAGS	GPR35	DYSF	TLL1	GFAP	MLH1	CFAP410	CDKN2A	IFNGR1	LHX4	GLI2	MT-TK	NKX2-5	KIF23	YY1	PIK3CA	RABL3	NF1	STAT1	CD46	CFI	MET	SDHC	ANXA11	TNPO3	GLT8D1	RARA	SLC22A4	ATP7A	PIEZO1	COL1A1	POMGNT1	NEFH	SERPINA6	SLC25A26	TNFSF15	RYR1	CHMP2B	PIK3CG	BCL2	NAXE	PALB2	COL5A2	C1QBP	VAPB	NABP1	ZBTB16	ANG	TLR3	BTK	TBX19	TSC1	C4A	ABCD1	PNPLA8	XPA	HESX1	IVNS1ABP	IL23R	SOX2	VCP	MEFV	NPM1	PALLD	HELLPAR	NFKBIL1	MMADHC	UBQLN2	ATP13A3	PSTPIP1	TAFAZZIN	NPPA	ELANE	GCH1	BIRC3	CD79B	EPCAM	RPS20	IRF5	AP2S1	RUNX1	LRRC8A	SCNN1A	TNXB	OPTN	TGFBR2	ERCC4	CALR	MST1	PMS2	SMAD4	TPM3	MYH6	MMEL1	CCR1	KL	NAB2	HNF4A	CBL	MLH3	IGHG2	ALAS2	PPP2R5D	SEMA4D	BCL10	SIN3A	POLG2	PGM1	PHKB	IGLL1	UBAC2	EPOR	SCN4A	C9orf72	LRIF1	HNRNPA1	UNC45B	HEPHL1	BTNL2	TBL1XR1	FGF23	FAS	SDHAF2	CD79A
HP_ABNORMAL_ENZYME_COENZYME_ACTIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ENZYME_COENZYME_ACTIVITY	FOXP3	COX5A	CYP3A4	AASS	CYP27B1	ABCD4	FBXL4	ACAD9	ARSL	TREX1	BRCA1	IDS	USP53	SERPINA1	BCR	LIPA	SAR1B	CPT2	JAK2	RNASEH2A	PRF1	RNASEH2C	MT-ND1	TMEM67	DOCK2	PIGY	GPI	CNOT1	SLC25A20	TRMT10C	DPYD	PIGK	GNPTAB	PLOD1	RPS24	ABCB11	CFH	SLC51A	AKR1D1	TP53	FKRP	NPC2	TCIRG1	DZIP1L	SUCLG1	ASXL1	CCDC115	SLC25A15	RRM2B	CASR	TSR2	DPM2	STEAP3	GLB1	PCCB	SPIB	RPS27	ADA2	ASAH1	HMGCL	UQCRC2	SCO1	CHEK2	RPS28	ALG6	CAT	COX16	ATP7B	GALC	ERCC4	SLCO1B1	POMK	SLC39A4	PEX16	SUOX	CLCN7	NFKB1	ALDH5A1	CEACAM6	RINT1	DAG1	HNRNPA1	PNPLA2	POLG	DPM1	HSPG2	HNF1B	CFAP418	RNASEH2B	PRPS1	PTH1R	RPS29	GFM2	POMT1	HLA-DQB1	CPT1A	NPR3	ALMS1	ABCB4	SLCO1B3	MTX2	CALR	HSD17B4	LBR	SLC25A13	RPL35A	SLC30A10	NSUN2	ACADM	VIPAS39	WARS2	PCCA	DHDDS	RAG1	SQSTM1	XK	GCLC	ERCC8	FBP1	SRD5A3	TREH	SI	IKZF1	CPA1	BCHE	VPS33B	KIAA0586	HNRNPA2B1	MT-ND6	IL12RB1	LARGE1	ABHD5	POLG2	RNU7-1	RHAG	MT-ATP6	ATP8B1	CSPP1	ALDOB	HFE	EDNRA	SLC37A4	LRPPRC	FARSA	TET2	COL4A1	INPP5K	AP1B1	PIGO	SLC11A1	IL12A	HADHA	MARS1	ALG2	TNFRSF11B	MTTP	SLC4A1	POMGNT2	LARS1	DCDC2	MOCS1	GALT	PLA2G7	XDH	ASL	USB1	MPL	CC2D2A	OPLAH	ESR1	CD19	ERCC6	ATRX	MIF	TMEM165	ENPP1	CAVIN1	SRP54	VPS50	RXYLT1	MAN2B1	TFR2	CYP2R1	NR1H4	POU2AF1	DLAT	SLC25A4	TANGO2	F5	COG2	SPTBN1	PIGB	GLYCTK	NGLY1	STAT4	FAH	PKLR	UROD	NCF1	ADA	MPV17	BRCA2	ALAD	RPL26	PDE8B	TYMP	HBB	KRAS	KCNN4	ALG11	SRSF2	PKHD1	ALG12	GSS	CLPB	OFD1	RHCE	PRKAR1A	FARSB	SBDS	DMP1	MYC	FLI1	FCSK	MRPL44	HEXB	COG4	LIG3	FXN	LPIN1	CTRC	TCF4	SGMS2	CSF3R	SLC26A9	KHK	PSAP	APRT	RPS19	MT-TV	SP110	LSM11	MGAT2	PPOX	SLC6A14	SLC7A7	ALDH4A1	COG7	MRPL3	PHEX	KIF23	RPS15A	MTM1	ACOX2	BMP2	FKTN	ZNF687	HLA-DQA1	GIMAP5	OCRL	AMACR	MPI	GNE	ATP6AP1	DGUOK	LHX1	BCAT2	IL18BP	VCP	HMBS	B4GAT1	IRAK1	RPGRIP1L	RB1	MICU1	SMPD1	WRN	PRSS1	DAXX	PGAP3	SIL1	SLC22A5	PIGT	MLIP	MMAB	LRRK1	HAMP	EFL1	MMADHC	G6PC1	CBS	CBLIF	KLF1	HSD17B10	SLC34A1	PITRM1	SDHD	PHKG2	MRPS2	LYST	TGFB1	YARS2	DPYS	BTD	PRDX1	TRAPPC11	TWNK	FKBP10	FAN1	OGDH	ACOX1	CEACAM3	ALG8	TNFRSF11A	RPS7	STX1A	MPDU1	PRKCD	MTHFD1	COG8	FADD	ABCG8	PLA2G6	ACVR1	VDR	EIF2AK3	PCK1	UNC13D	CYC1	RHD	ABCC6	HMOX1	IARS1	MMACHC	KIT	GCDH	COG5	MYO5B	IRF2BP2	RACGAP1	HJV	RPS26	MCCC2	PHKA2	DPM3	PLEC	PRSS2	MT-CO3	CRPPA	SLC9A3	LCT	ATP6AP2	SOST	PIGV	GATA1	TKFC	INPP5E	MT-ND5	CAV3	GNMT	MYH9	ANO10	MTRR	APOE	SIK3	CLCA4	POLD1	PLEKHM1	CCDC47	RAG2	OCLN	PMM2	PEX19	PSMB9	STXBP2	MMAA	HADH	TFAM	ADK	RPL15	BCS1L	ALPL	DMD	JAG1	ACADVL	RPL11	OTC	DPAGT1	VPS13A	CP	PIGQ	KY	MRPS28	GPR35	LMBRD1	HSD3B7	RPL27	CFTR	ELMO2	GPHN	HLA-B	FAM20C	PSMB8	POMT2	ICOS	CDKN2A	SLC19A1	TRPV6	NCF2	DCTN4	MRPS16	AHCY	SPP1	NADK2	RPS10	RBCK1	PYGL	PIGW	RABL3	DLD	UMPS	MTR	MCM6	POMGNT1	ALG3	CD46	GALK1	CFI	CYP7B1	MT-ND4	MED12	NOS3	CYBA	TNPO3	LYRM4	CTSA	ABL1	PIEZO1	SEMA7A	PGAP2	GAA	CR2	GATA2	MOGS	DMGDH	BICRA	MOCS2	RPL18	TNFSF15	AGL	TNFRSF13B	ALDH2	RPL31	HMGCS2	TULP3	RPL5	ATM	PEPD	PIK3CG	MT-ND2	FH	PALB2	B4GALT1	C1QBP	FGF23	IER3IP1	COLQ	STAT2	BSCL2	GNPTG	SEC23B	RNF220	SLC2A2	DDOST	IFT172	C18orf32	SLC35A2	CEBPE	SPINK1	FLT1	TMEM199	B3GALNT2	DOLK	MANBA	CYBB	PDE11A	ALDOA	HLA-DRB1	CDAN1	FOCAD	NSMCE2	HNF4A	ALAS2	PALLD	HELLPAR	GBA1	KIF12	SECISBP2	PRIM1	DNAJC21	COG6	NFS1	STX11	ASPA	IRF5	MT-TK	RPS20	LIPT1	GSTM3	LDHA	CORIN	NFKB2	MST1	GLRX5	AGPAT2	MICOS13	LAMB2	SMAD4	PIGA	FTCD	CYP27A1	PRKACA	MMEL1	ABCD3	MVK	TNFRSF13C	NPC1	TTC26	GALM	MT-TW	PSMB4	CTNS	RPS17	IFIH1	DEF6	APOB	MT-TL1	ZNFX1	CBL	SAMHD1	MS4A1	ADAR	WDR35	STOX1	MT-ND3	CD81	PEX13	GPD1	RUNX1	SEMA4D	TNFSF12	RPL35	GDF2	GYS2	PGM1	PHKB	OTUD5	RPS14	SLC34A3	PIGS	USP18	ACSF3	BAAT	TRMU	PRKCSH	HADHB	SLC51B	CA2	DNAJC19	SC5D	NBAS	MT-CO1	MTHFR	PIGL	PKD2
HP_LEFT_TO_RIGHT_SHUNT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEFT_TO_RIGHT_SHUNT	TTC26	TBX20	THOC6	ACTC1	MYH6	CITED2	GATA4	TLL1	GATA6	NKX2-5
HP_RHINITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RHINITIS	ELANE	IGKC	ZMYND10	DNAJB13	MCIDAS	DNAH1	DNAL1	TNFSF11	IL4R	LRRC56	CCDC103	CLPB	RFX5	ZNF699	GAS8	DNAAF4	CARMIL2	OFD1	RSPH3	RFXAP	SLC29A3	STK36	IDUA	ODAD4	ODAD2	DNAAF11	CFAP300	ALG12	GFI1	MS4A2	SIK3	CCDC65	DNAAF3	EDA	SPAG1	DBH	DNAAF1	CLCN7	ODAD3	RAG2	TCIRG1	COX4I2	FOXJ1	CCDC40	RFXANK	EDARADD	NME8	RSPH1	SRP54	DNAH11	BLM	DNAI2	DNAH5	PLA2G7	DNAH9	TTC12	SPINK5	KRT74	RPGR	DNAI1	SNX10	PGM3	SASH3	CFAP221	RSPH4A	NEK10	RSPH9	HYDIN	SPEF2	CFAP298	IGHG2	CCNO	GAS2L2	DNAAF2	DNAAF6	DNAAF5	RAG1	SLC27A4	CDSN	PLCG2	DRC1	CCDC39	ODAD1	CIITA
HP_BRONCHITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRONCHITIS	IGKC	HLA-DQA1	ALMS1	CCDC65	NFKB2	TAP1	ATM	ICOS	RNF168	SCNN1B	RPGR	ZBTB24	HLA-DQB1	DNAI1	TNFRSF13C	SYK	CRLF1	CARMIL2	IRF2BP2	MGP	NBN	SCNN1G	CCDC40	HYDIN	GNPTAB	ZMYND10	ODAD2	FCHO1	TAPBP	DNAAF11	MS4A1	DNAJB13	IGHG2	SERPINA1	CD81	GAS8	EGFR	IL10RB	CD79A	CD19	GUSB	DNAAF1	TNFSF12	TAP2	RAC2	SCNN1A	CCDC39	TNFRSF13B	SPAG1	CR2	TAFAZZIN	CFTR	IL17RA	SMARCA2	NFKB1	IL2RG	DNAAF5	RSPH4A	DNMT3B	CD79B	ODAD3	CACNA1C	PRKCD	BLM	SLC34A2	CFAP298	NOS1	MAGT1
HP_APPENDICULAR_HYPOTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APPENDICULAR_HYPOTONIA	GNPTAB	NRROS	GEMIN5	PEX3	NAPB	FBXO28	CWF19L1	LGI3	FNIP1	CACNA1C	GBA1	PRPS1	EXOSC9	UNC80
HP_ANAL_FISSURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANAL_FISSURE	COL7A1	MMP1	ADAM17	CYBC1	EGFR
HP_HYPOREFLEXIA_OF_UPPER_LIMBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOREFLEXIA_OF_UPPER_LIMBS	ACOX1	RUBCN	MT-TE	ST3GAL5	PMP22	RYR1	ATP6AP2	GDAP1
HP_ALLERGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALLERGY	FOXP3	IGKC	RBM8A	MTOR	ARL6	MS4A2	SIK3	JAK1	IL4R	CHD1	SPTBN1	FOCAD	CAMK2B	FOXP1	ABCC9	SPINK5	KRT74	IL6ST	CSTA	PGM3	DOCK8	ADA	CARMIL2	IPO8	SLC27A4	COX4I2	CDSN	BBS1	PSTPIP1	SOX6	PLCG2	CTLA4	IGHG2	PLA2G7	TGM5	CCDC28B
HP_AORTIC_ATHEROSCLEROTIC_LESION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AORTIC_ATHEROSCLEROTIC_LESION	LDLRAP1	PCSK9	LDLR	APOB	CYP7A1	LMNA	APOE	ABCG5	ABCG8
HP_PERIPHERAL_EDEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_EDEMA	FSHR	KIF20A	PRKAG2	KIF1A	ZNHIT3	FLNC	SLC34A2	TLL1	TNNT2	EPHB4	MYPN	TNNI3
HP_ABNORMAL_ALDOLASE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ALDOLASE_LEVEL	POMK	POMT1	ALDOB	POMGNT2	ALDOA	TGFB1	POMGNT1	DAG1	B4GAT1	MT-CO3	CRPPA	COL4A1	HSPG2	INPP5K	FKRP	LPIN1	LARGE1	MT-CO1	RXYLT1	POMT2	FKTN	B3GALNT2	SIL1
HP_ABNORMAL_URINE_ALPHA_KETOGLUTARATE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_ALPHA_KETOGLUTARATE_CONCENTRATION	ATP6V1B2	TBC1D24	TPK1	DLD	OGDH	AASS	PIGB	GLUD1	ALDH4A1	NFU1	COX16	SLC13A3	SDHB
HP_INCREASED_URINE_ALPHA_KETOGLUTARATE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_URINE_ALPHA_KETOGLUTARATE_CONCENTRATION	GLUD1	ATP6V1B2	TBC1D24	TPK1	DLD	ALDH4A1	NFU1	COX16	SLC13A3	SDHB	PIGB
HP_MEDULLARY_NEPHROCALCINOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEDULLARY_NEPHROCALCINOSIS	TTC26	ADAT3	ABCC6	SLC34A3	SLC34A1	POLRMT	FGF23	TOR1A	ENPP1	MAGED2	CTNS
HP_PURE_RED_CELL_APLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PURE_RED_CELL_APLASIA	RPS29	RPS20	PNP	RPS27	RPL27	TSR2	RPL35A	ADA2	RPL35	RPS28	RPS26	RPL26	RPS19	RPL15	RPS17	EPO	RPS7	RPL18	RPS24	TP53	RPL11	GATA1	RPL31	RPS10	RPS15A	RPL5
HP_PREMATURE_PUBARCHE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_PUBARCHE	MAGEL2	HSD11B1	NDN	CYP11B1	HSD3B2	SNRPN	TANGO2	MKRN3	SIM1	OCA2	PAPSS2	AIP	MEN1
HP_PREMATURE_ADRENARCHE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_ADRENARCHE	MAGEL2	NDN	CYP11B1	SNRPN	GRB10	SIM1	HSD3B2	OCA2	USP7
HP_ABNORMAL_BLOOD_GAS_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_GAS_LEVEL	RHCE	RHD	MAP3K20	CD40LG	FGFR3	BTNL2	SMPD1	HLA-DRB1	CSF2RB	ACTA1	TPM3	NDUFS8	CACNA1S	SFTPC	LRP12	LONP1	CSF2RA	SLC35A1	RYR1	MARS1	FBN1	ABCA3	PTRH2	HACD1	SFTPB	CNOT1	NKX2-1	MYL2	HBB	SELENON	RHAG	GATA6	PHOX2B	EIF2AK4	TPM2	ENG	SLC34A2	ITGA7	ZFPM2
HP_MECONIUM_STAINED_AMNIOTIC_FLUID	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MECONIUM_STAINED_AMNIOTIC_FLUID	ATP8B1	ALDH7A1	NR1H4	ABCB4	ABCB11	SLC6A5	PLPBP
HP_OPTIC_DISC_DRUSEN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPTIC_DISC_DRUSEN	XYLT2	GUCY2D	TMEM98	LRAT	SPATA7	MFRP	LCA5	IFT172	ABCC6	XYLT1	RPE65	PRPF8
HP_PROMINENT_CALCANEUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_CALCANEUS	DYM	GFM2	OBSL1	RTL1	DLK1	SATB2	RSPRY1	MEG3	CCDC8
HP_APLASIA_HYPOPLASIA_OF_THE_CEREBRAL_WHITE_MATTER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_CEREBRAL_WHITE_MATTER	PSAT1	MT-ND4	MT-ND6	ZEB2	MT-ND5	TMX2	MT-TH	SLC2A1	MT-TL1	STRADA	NACC1	WARS2	MT-CO2	NARS1	MT-TS2	KDM1A	MT-CO3	MT-CO1	FDXR	MT-TW	MT-TF	MT-TQ	MT-ND1
HP_CEREBRAL_WHITE_MATTER_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_WHITE_MATTER_HYPOPLASIA	NARS1	PSAT1	KDM1A	STRADA	NACC1	TMX2	WARS2	ZEB2	SLC2A1	FDXR
HP_CHRONIC_FATIGUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_FATIGUE	MDM4	RABL3	CDKN2A	PSAP	STAR	IVNS1ABP	SMAD3	NNT	TXNRD2	NLRP3	TK2	MC2R	SMAD4	KRAS	PALB2	BRCA1	PALLD	EIF2AK4	ALDH4A1	TP53	MRAP	BRCA2	SMAD2
HP_ABNORMAL_SOCIAL_BEHAVIOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SOCIAL_BEHAVIOR	AMPD2	PODXL	NDUFB10	LCA5	C12orf4	VPS37D	NLGN4X	SPATA5	CDKL5	GLS	KCNT1	DLK1	DDX59	KMT5B	FOXG1	NLGN3	EXTL3	MT-ND1	DPYD	PPIL1	PRKN	TBR1	METTL27	MBD5	APP	ADAM22	ATP1A2	TRIM8	AGTPBP1	NDUFS4	SETD2	ARFGEF2	ST3GAL3	ADSL	ITPR1	NDE1	TET3	GTF2IRD1	TBC1D23	CACNA2D2	SNRPN	GABRG2	CAMTA1	SMARCA2	SLC25A1	MFF	IFNG	WARS2	NUBPL	GABRA2	GTF2H5	GRIA3	PINK1	NLGN1	VPS13C	SCN1A	SYNJ1	GUF1	AP2M1	CHMP1A	GFM2	BCL7B	MLXIPL	NDUFC2	PSAP	NEXMIF	CREBBP	GPHN	ABCC8	CNTNAP2	SLC6A8	GABBR2	NCF1	NDUFS7	GABRB3	NDUFAF4	TOMM40	NDUFA13	MPLKIP	RAB11B	SMC1A	NDUFA11	NDUFA6	CLTC	LINGO1	FKBP6	NDUFA1	GFM1	RFC2	PIGH	UCHL1	COG6	MED12	GTF2E2	TBL2	NEUROD2	UBA5	CHD8	TUBB3	TMTC3	GTF2I	SNX14	NDUFV2	PLA2G6	NALCN	NDUFS8	ALG13	NDUFB9	FRMPD4	POU4F1	SLC25A12	DEAF1	UGP2	CLP1	GRIN1	CLIP2	SH2B1	FMR1	SPEN	PSEN1	TARS2	MECP2	STX1A	NDUFB3	SLC2A1	DNAJC30	SYNGAP1	ERCC3	NDUFAF2	PSEN2	SPTBN1	RARS1	NDUFS2	IREB2	CHD2	NDUFAF8	NDUFAF5	ARSA	CACNA1H	NDUFV1	GALNT2	AP4B1	CHAMP1	GABRA1	DOCK7	ZMYND11	ALG11	MT-ND3	ABCA7	TIMMDC1	HTRA2	COX10	AP4M1	DOLK	FOXRED1	AP3B2	TMEM126B	TARS1	PUS3	MAN2C1	PUF60	ALG2	MEG3	GNB5	SYT1	CDC40	HERC1	CARS1	BUD23	NHLRC2	TSC1	NDUFAF1	NTRK2	APC2	SPATA7	JRK	NDUFS1	ADCY5	MT-ND2	BAZ1B	ARX	ELN	MEF2C	SETBP1	CUX2	POLA1	ERCC2	RNF113A	NDUFS3	RPE65	MICOS13	CAMK2B	SORL1	PCDH19	NTNG1	KANSL1	GRIN2B	EIF4H	OPHN1	SNCA	IQSEC2	TSC2	GTF2IRD2	LIMK1	MDH2	MED13L	NF1	RLIM	TMEM270	LRAT	TREM2	WLS	NDUFS6	NDUFAF3	AP4E1	PIGP	PARK7	LRRK2	NONO	FOXP2	RTL1	NDUFB11	AP4S1	EBP	TWNK	FLCN	ACOX1	POGZ	DNAJC6	ADNP	SLC6A1	SHANK3	EP300
HP_DELAYED_SOCIAL_DEVELOPMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_SOCIAL_DEVELOPMENT	AMPD2	LRAT	WLS	LCA5	RPE65	TUBB3	TMTC3	ABCC8	SNX14	APC2	ITPR1	PPIL1	SPATA7	FOXP2	COG6	CDC40
HP_ABNORMAL_GALLBLADDER_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GALLBLADDER_MORPHOLOGY	DNAJC30	VPS37D	GATA6	DMPK	EPB41	HIRA	GPI	CNOT1	SEC23B	HBB	INTU	ABCB11	PSAP	METTL27	PKHD1	FECH	SPTA1	ASXL1	TBX1	ALDOA	SMPD1	GP1BB	ARVCF	SPTB	TPI1	EPB42	KCNN4	PFKM	ALAS2	GDF2	CCDC47	GTF2IRD1	TCF4	RREB1	GCGR	PEX19	SCNN1B	BUD23	UQCRFS1	SMAD4	B3GLCT	ABCG8	SLC4A1	COMT	BAZ1B	ELN	ACVRL1	AMACR	BCL7B	GNE	GPR35	MLXIPL	VPS4A	ABCB4	SEC24C	MST1	SON	NCF1	CYP27A1	BLVRA	SCNN1G	SCNN1A	EIF4H	ARSA	GTF2IRD2	LIMK1	ATP8B1	FKBP6	RFC2	CC2D2A	PKLR	AIRE	TBL2	KDM5C	TMEM270	GYPC	ANK1	SEMA4D	RFX6	GTF2I	PIEZO1	ENG	JMJD1C	UROS	TFE3	MED25	CLIP2	HK1	FOXF1	UFD1	STX1A	GBA1	SC5D	CYP7A1
HP_ABNORMAL_MYELINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MYELINATION	MT-ND4	NDUFA9	TRNT1	SPATA5	HS2ST1	EEF1A2	GLS	PDYN	ZNF699	GABRA5	GBF1	PURA	RNASEH2C	ALDH7A1	MT-ND1	PIGY	BMP4	NEFL	SPG11	ADAR	NDUFS7	FAR1	AP3D1	PGAP1	IFIH1	NKX6-2	SPTLC1	NDUFA13	COX7B	DNMT1	SH3TC2	MORC2	COX15	EIF2B5	NTRK2	ATP7B	DHH	SLC25A1	NDUFA2	PMP22	STAMBP	FDXR	VPS33A	ADGRG1	RNASEH2B	PRPS1	NRCAM	POLR3A	SATB2	HK1	CACNA1A	HSD17B4	HLA-DQB1	PLP1	WARS2	YWHAG	UPB1	AARS1	ERCC8	GLRX5	PIGQ	PGM3	CLTC	NDUFA1	AIMP1	NMNAT1	TRIM2	GDAP1	MT-ND6	RNU7-1	EIF2B4	MT-ATP6	CHKA	PRX	UBA5	ZNF526	BRPF1	TMTC3	NTRK1	NDUFV2	ABHD12	GNB1	BCAS3	CLP1	ASNS	MOCS1	ZNF335	ERCC3	MMUT	TRRAP	GABRA2	SIK1	COPB2	COA7	SOX10	NDUFS4	MT-ND5	EXOSC2	DHX16	SEPSECS	NGLY1	IREB2	DHX30	STXBP1	ARSA	SCN3A	GRM7	CHAMP1	ALG11	CTNNB1	PNPT1	RNF13	PLEKHG2	SLC33A1	RRM2B	KIDINS220	DHFR	MADD	FCSK	IBA57	HTRA1	SLC19A3	PDHA1	TBC1D24	SURF1	TMEM240	CDKL5	ADAMTSL1	GJC2	CLPB	SP110	TBCE	LSM11	PRMT7	TNPO2	NDUFS8	MTMR2	HSPB8	GPT2	HEXB	MAPK8IP3	TRMT10A	HCN1	COG7	NDUFS1	ASXL1	DARS2	SLC35A2	ZMIZ1	MPZ	YIF1B	MAN2B1	NADK2	PIGG	ATP6V1A	MTRR	SPTAN1	SLC13A5	ERCC6	RAB3GAP2	MT-TF	PIGO	PSAP	CARS1	MAT1A	NDUFAF3	ARV1	KIF5A	LIAS	ATXN2	TRAPPC11	TWNK	FLCN	PDCD1	HNRNPU	FZR1	SYNJ1	SLC1A2	NGF	FLVCR1	ARNT2	CNOT3	ASPA	ITPA	SCN8A	FA2H	SACS	NECAP1	POLG	EGR2	FGF13	TKFC	ATP1A3	SYNGAP1	UBTF	MT-TH	MARS1	DHDDS	ALG14	POLR3B	SLC25A22	KARS1	RAB7A	LIPT2	AHDC1	SMPD4	ERCC4	FGF12	GNAO1	DAG1	GCDH	FANCL	PMM2	LEMD2	GTF2H5	MFN2	DPAGT1	EXOSC5	GFAP	PEX7	SBF1	PPP1R15B	ABCD1	DNM2	FOXRED1	RERE	PIGV	FUS	PPP3CA	ARX	EIF2B1	ACY1	GFM1	TFG	AHCY	MED27	KDM1A	HACE1	LITAF	POLR1C	GABRB2	BRAT1	ATP6AP2	ALG13	ATP1A2	TAOK1	NDUFB9	YRDC	PIGN	KIF1A	MOCS2	SLC12A5	NDUFB3	TAF2	NDUFS2	SCN1B	KCNA2	PLAA	RARS1	GAA	LIPT1	RNASEH2A	NDUFAF8	NDUFAF5	NDRG1	ACER3	ZFYVE26	PPP2CA	LMNA	DDOST	MT-CO1	C18orf32	TRAPPC2L	VRK1	MRPS22	SLC1A4	MT-ND3	GNB4	ALDH6A1	PPP2R1A	ABCA1	ADAT3	CREBBP	CYB5A	INSR	CLCN4	FOCAD	ALG9	ALG2	NUBPL	RAI1	FRMD5	PEX10	GAN	CTC1	WWOX	PGAP2	SELENOI	MT-TK	UFC1	NUP188	TMEM63A	MT-ND2	DCAF8	KCNN2	KCNB1	DPM1	PARS2	FIG4	GALC	CLDN11	GRIK2	COX14	RNF113A	NDUFS3	VPS11	KIF1C	RNF168	TGFB1	TTC26	MT-TW	PIGW	PIGA	HYCC1	ATP11A	PEX16	SAMHD1	EXOC8	PIGU	PEX13	ERCC2	SLC2A1	CYFIP2	NEUROD2	TYROBP	RNASET2	ELP1	KIF1B	MT-CO3	D2HGDH	NDUFB10	CTSK	NACC1	C2orf69	FBXL4	PC	MTHFS	DNM1	UGDH	KCNT1	CACNA2D1	CDK19	PRF1	DNAJC3	IDH1	FBXO28	SNORD118	NARS2	PHGDH	ELOVL4	COX6B1	SHPK	COQ7	TRIM8	PLEKHG5	MT-TL1	TIMM22	TUBB4A	NDUFB8	EIF2B3	ISCA2	SCN2A	NCDN	ALDH5A1	ACTL6B	NDUFA12	FLRT1	NDUFAF2	SLC6A8	LMNB1	PAK1	YY1	FGD4	POU3F3	RMND1	QARS1	NDUFA11	DMXL2	GTF2E2	RETREG1	DEGS1	TMEM106B	JPH1	NDUFA10	GRIN2A	FRMPD4	GATAD2B	SCO2	MT-TS2	PEX1	PRKDC	ZC4H2	CTDP1	GJB1	MT-TQ	ZNF148	SDHB	NDUFA4	IDUA	TMEM147	KCNJ10	SPTBN1	SLC16A2	KMT2E	FANCB	MCOLN1	SLC6A1	PRUNE1	MLYCD	NDUFV1	GNB2	TYMP	EPRS1	GMNN	POGZ	ALG12	DOHH	PTEN	EIF2B2	EXOC2	TMEM126B	LIG3	MTRFR	NRROS	ADARB1	PI4KA	MT-TV	CLCN3	INF2	NDUFAF1	TRAK1	ARHGEF10	CYB5R3	PET100	LAMB1	HLA-DRB1	SLC30A10	APTX	HSPD1	CASK	KCNC2	WDR26	ALS2	OCA2	MDH2	ERCC1	HARS1	ARF1	MPV17	EXOSC1	NDUFS6	EZH2	PIGP	RAB3GAP1	FOXP1	CELF2	CNTNAP1	SIGMAR1	ZNHIT3	NDUFAF4	COX6A1	ACOX1	ALG8	DALRD3	SHANK3	TXN2	HIKESHI	RFC1	GLYCTK	COG5	PLPBP	CACNA1B	FOXG1	RHOBTB2	PPIL1	PMP2	SMG9	CLCN7	MME	AP3B2	CNKSR2	ARID1B	ACO2	SDHA	ADSL	BAG3	PHACTR1	PEX19	NUP133	SUMF1	BCS1L	TREM2	EDNRB	VPS13A	TIAM1	MTFMT	LRPPRC	SBF2	PSAT1	GLUL	ELOVL1	MMACHC	ERCC5	SETD1A	SLC38A3	AIFM1	MPLKIP	NARS1	RAB11B	TBCD	NDUFA6	SZT2	TREX1	DYRK1A	PYCR2	DDX6	GEMIN4	PPFIBP1	SLC25A12	ISCA1	UBE3A	MOGS	GTPBP3	DARS1	KCNA1	SLC12A6	EIF2AK2	IER3IP1	SNIP1	SOX3	CACNA1I	RNF220	H4C5	KLC2	L2HGDH	TACO1	TIMMDC1	TRMT5	LMX1B	C2CD3	MTTP	ZFR	RBM8A	MANBA	TARS1	BOLA3	BCAP31	DNM1L	SYT1	CDC40	ASH1L	GABRG2	AFG3L2	TNR	OSTM1	PKDCC	ABAT	TUFM	WNK1	CYP27A1	NDUFAF6	NR2F1	MT-CO2	GRIN2D	INTU	POLR2A	TAF13	CSF1R	DHX37	PGAP3	COA8	GRIN1	ALDH3A2	SMPD1	GABBR2	SCN9A	AIMP2	SIN3A	DCX	ECHS1	NUS1	NDUFB11	PIGS	CUL3	CLTCL1	FBP2	PNKP	PIGL	EP300	ACBD5
HP_DELAYED_MYELINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_MYELINATION	HIKESHI	PHGDH	ADAT3	ERCC6	WARS2	NACC1	TRNT1	CLCN3	FBXL4	GLYCTK	ITPA	HS2ST1	MTHFS	UGDH	GLS	KCNT1	COG5	PLPBP	PURA	ALDH7A1	FOXG1	IDH1	BMP4	FBXO28	RHOBTB2	PPIL1	TKFC	FAR1	AP3D1	PGAP1	IFIH1	SMG9	ELOVL4	CLCN7	ASXL1	TRIM8	PNPT1	ARID1B	COX7B	TIMM22	MORC2	ALG14	PHACTR1	POLR3B	SLC25A22	YY1	LIPT2	NUP133	AHDC1	KDM1A	SLC25A1	SCN2A	NCDN	GNAO1	STAMBP	ALDH5A1	GCDH	FANCL	BCS1L	FDXR	PMM2	VPS33A	NRCAM	PSAT1	SATB2	SETD1A	SLC6A8	PAK1	VPS11	PEX7	NGLY1	AIFM1	UPB1	PPP1R15B	POU3F3	NARS1	RAB11B	ZC4H2	RERE	RMND1	PIGQ	PIGV	PRPS1	CLTC	KIDINS220	ARX	DMXL2	ACY1	GFM1	NMNAT1	AHCY	SLC1A4	RNU7-1	DDX6	GEMIN4	NEUROD2	HACE1	TMEM106B	SPATA5	UBA5	ZNF526	BRAT1	WWOX	ATP6AP2	ALG13	GNB1	FRMPD4	GATAD2B	YRDC	PLAA	CLP1	ISCA1	UBE3A	ASNS	PIGN	ZNF335	NTRK2	MMUT	TRRAP	SLC12A5	TXN2	SIK1	FOXRED1	COPB2	ZNF148	KCNA1	TAF2	RNF13	EXOSC2	SEPSECS	SCN1B	TMEM147	AARS1	SPTBN1	EIF2AK2	ATP1A3	SLC16A2	IREB2	DHX30	KMT2E	FANCB	STXBP1	IER3IP1	SLC6A1	PRUNE1	MLYCD	GNB2	PPP2CA	CACNA1I	GRM7	CHAMP1	H4C5	C18orf32	SLC35A2	TRAPPC2L	SLC13A5	ALG11	MRPS22	GMNN	CTNNB1	TRMT5	LMX1B	ALDH6A1	POGZ	PPP2R1A	ALG12	DOHH	RBM8A	CREBBP	DHFR	MADD	CYB5A	SLC2A1	FCSK	CLCN4	FOCAD	ALG9	TBC1D24	ALG2	DNM1L	TMEM240	CDKL5	SYT1	CDC40	ASH1L	ADAMTSL1	FRMD5	NRROS	ACTL6B	CLPB	ADARB1	TBCE	PRMT7	TNPO2	MAPK8IP3	UFC1	TRMT10A	NUP188	COG7	TNR	TMEM63A	KCNN2	CYB5R3	DPM1	PKDCC	LIPT1	ZMIZ1	GRIK2	NR2F1	MAN2B1	CASK	KCNC2	TGFB1	POLR2A	TAF13	MTRR	OCA2	PIGA	MDH2	DHX37	ARF1	GRIN1	EXOSC1	EXOC8	PIGU	CARS1	SMPD1	EZH2	PIGP	RNASEH2C	RAB3GAP1	KIF5A	SIN3A	DCX	FOXP1	PIGS	FLCN	CDK19	CUL3	HNRNPU	CLTCL1	SLC1A2	D2HGDH	SHANK3	ARNT2	PNKP	CNOT3	PPP3CA	GTF2H5	EP300
HP_CHRONIC_CONSTIPATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_CONSTIPATION	EIF5A	ADAT3	LBX1	SH2B1	VPS35	PCGF2	ARSB	LMNB2	ODC1	ZNF292	NSD2	HS2ST1	CAMTA1	SLC38A3	COL5A2	AFF3	SNCA	FGF12	HIVEP2	MLYCD	GNB2	ELF4	IPO8	KMT5B	OPA1	H4C5	FBXO28	DNAJC13	SETD5	POGZ	ELN	UPF3B	MYO1H	MYH11	ERBB2	MAGEL2	SLC12A2	TRIM8	H3-3A	PPP2R1A	MADD	MNX1	MED13	RORA	TNFRSF1A	GIGYF2	RAI1	ASH1L	SPOP	LRRK2	USP7	MECP2	CNP	EIF4G1	PHOX2B	OTUD6B	HNRNPH2	CREBBP	USP9X	H3-3B	LMNB1	PPP1R21	WASF1	CAMK2B	EP300	TANC2	MOGS	UBE2A	NGLY1	PSMB8	SMO	MEFV	TBCD	MSL3	DDOST	PAK2	POU4F1	TMCO1	IGBP1	SPATA5	TRIO	PRKG2	GBA1	MLXIPL	SETD1A	TAOK1	GATAD2B	TFE3	COL1A1	UGP2	SUPT16H	COL5A1	BICRA	ADNP	GRIA1	FAR1	H1-4	PPP1CB
HP_RESTLESS_LEGS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESTLESS_LEGS	PODXL	SNCA	NEFL	ATXN7	FTL	DNAJC6	PARK7	PINK1	PRKN	LRRK2	VPS13C	SYNJ1	MFN2	HTRA2	UCHL1
HP_ELEVATED_TRANSFERRIN_SATURATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_TRANSFERRIN_SATURATION	HFE	SLC25A38	PKLR	SLC40A1	HJV	STEAP3	BMP6	HAMP	TFR2
HP_INFANTILE_SPASMS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFANTILE_SPASMS	KCNA1	TSEN2	CDKL5	TUBB2B	NACC1	DHX16	MT-ND2	SLC25A22	KDM4B	SCN1B	ADGRG1	TSC1	SPATA5	SPTBN1	TANGO2	GCDH	ACTL6B	SRPX2	VPS53	KCNQ5	GABRB3	ST3GAL3	CEP85L	ARFGEF1	MT-ND1	GRM7	TUBA1A	FBXO28	DOCK7	SLC35A2	ALG13	PPIL1	ARX	SLC1A4	TSEN15	MT-ND5	GABBR2	SPATA5L1	GRIN2B	RNF13	TRIM8	DOLK	ATP2B1	CLCN4	ALG14	IFNG	PDHA1	ALG2	TUBA8	PI4KA	CDC40	ERCC5	TSEN34	SCN2A	TUBG1	PTPN23	GNAO1	PHACTR1	MT-TV	CNPY3	NDUFAF8	MGAT2	MT-TK	APC2	NEXMIF	GRIN1	MAPK1	HK1	LONP1	OGDHL	EEF1A2	MMACHC	DMXL2	GUF1	SLC25A10	STRADA	WDR45	RUSC2	SLC19A3	NGLY1	KCNB1	FBLN1	NTNG1	CASK	MT-TW	TSEN54	TUBB3	SMC1A	TSC2	PIGQ	MACF1	NTRK2	DHX37	PIGA	DEPDC5	SPTAN1	MT-TL1	HDAC4	BTD	HIBCH	MT-ND6	UFSP2	NPRL3	MT-ND3	NEUROD2	MT-ATP6	NPRL2	PIGP	MT-ND4	PLCB1	DCX	KIF1A	SIK1	GNB1	RALGAPA1	CDK19	CUL3	CDH2	ZNHIT3	NAXD	MECP2	D2HGDH	ASAH1	SEPSECS	PAFAH1B1	PNKP
HP_THICK_VERMILION_BORDER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICK_VERMILION_BORDER	ADAT3	KAT5	VPS37D	EIF2S3	CUL4B	CUL7	SHOC2	HECW2	ZBTB20	UGDH	RBMX	AFF3	NF1	CDKL5	GPC4	IDS	ZNF699	NANS	MEG3	SMARCB1	RNU4ATAC	IFT52	ORC1	CBL	SMARCE1	FLNA	RRAS2	METTL27	ECM1	PIGL	CDT1	ELN	DPYSL5	SMG9	SPATA5L1	ADAM22	FBN1	EDEM3	VPS51	ORC6	ARID1B	GLA	TCF4	RSPRY1	AIP	WDR26	SMARCA4	KCNN3	PTPN11	GTF2IRD1	EDA	ZEB2	PAK3	GNS	YY1	KREMEN1	CAMTA1	MED12	DYRK1A	RRAS	MRAS	RPS6KA3	LARP7	RIT1	SRD5A3	SNX14	GRIA3	VPS33A	PIDD1	SCN1A	ORC4	AP2M1	EXOSC5	PTH1R	PPP1CB	CDC6	SOX18	BCL7B	SEC31A	MLXIPL	NEXMIF	KMT2C	PPP1R21	GRIA1	EDAR	NCF1	NSUN2	FBXO31	PSMB8	NAGA	IDUA	RIN2	KIF11	SCUBE3	SH3PXD2B	SIN3A	APC	EDARADD	C12orf57	FKBP6	AGA	MAN1B1	HDAC4	HRAS	COL11A1	RFC2	COG6	PYCR2	TBL2	ERF	ARID1A	NEU1	SMARCC2	KRAS	PUS7	TRIO	ADAMTS2	DOCK7	SOS1	NFIX	GTF2I	OGT	FOXP1	EBF3	KCNH1	SMG8	BCAS3	TFE3	POU4F1	LTBP3	TOE1	DEAF1	ATP6V1B2	CLIP2	MINPP1	ZMYM2	MOCS1	SUPT16H	TSPEAR	GMNN	PHGDH	CCDC8	MOCS2	RNF135	SPEN	CIT	KDM6B	EPG5	SMARCD1	DPF2	XYLT1	SETD1B	STX1A	SLC2A1	DNAJC30	FIBP	TBC1D24	AMMECR1	MYCN	KDM4B	ATRX	TMEM147	SPTBN1	ERMARD	KIF7	NAA20	CHD2	STRADA	NRAS	KAT8	DENND5A	ADNP	ACER3	GALNT2	CACNA1I	PCDHGC4	ABCC9	H4C5	OFD1	INSR	TFAP2B	FUCA1	SOX11	AFF2	SOX4	SPRED2	CWC27	NOG	SOS2	BRCA1	DLK1	TASP1	MADD	SMS	RAF1	CDH11	AP1S2	AP4S1	KCNJ8	LTBP1	PRIM1	KIF15	BUD23	TRAF6	SETBP1	TWIST2	ANTXR1	CYP24A1	CDK13	RASA2	KDF1	COG7	HNRNPH2	BAZ1B	ANKRD11	FTSJ1	ARID2	KIFBP	RPS7	SLC35A2	LZTR1	RPS23	MCM5	GJA5	OBSL1	EIF4H	STAG2	NAA10	RBL2	FRMD4A	GTF2IRD2	HUWE1	LIMK1	CDC45	USP9X	TMEM53	SET	RTL1	TBCK	GJA8	GPC3	EXOSC1	BRAF	TMEM270	KCNK9	SMARCA2	RNF2	RET	AIMP2	AUTS2	NONO	KCNE5	CNTNAP1	THOC6	PTDSS1	GNAI1	ACSL4	GPR101	CILK1	EHMT1	SYNGAP1	AMER1	SLC6A1	CA2	SC5D	PPP3CA	P4HTM
HP_ECLABION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECLABION	MECP2	MGAT2	PAX9	CYP4F22	VPS37D	IFT122	FBXL4	KCNK4	TGM1	QRICH1	EDNRA	WNT10B	PITX2	ASXL3	SALL4	EHMT1	METTL27	MBD5	SMG9	ABCA12	ALOXE3	TBL1XR1	GTF2IRD1	EDA	H4C9	ALOX12B	RPS6KA3	CCDC8	WDR35	OBSL1	BMP2	RAI1	EDARADD	HSPG2	MED12L	CREBBP	EEF1A2	BCL7B	MLXIPL	BCL11A	ERCC5	SPECC1L	NCF1	CHN1	KMT2C	MSX1	FBXO11	LRP6	RIN2	FKBP6	MAN1B1	AXIN2	WDR19	RFC2	ABHD5	IFT43	SULT2B1	TBL2	PUS7	ADAMTS2	GTF2I	FHL1	KCNH1	MCOLN1	MED13L	SETD1A	BCAS3	TFE3	CLIP2	RAB3GAP2	KANSL1	MAP1B	HGSNAT	TGFA	EPG5	MAFB	SDR9C7	LIPN	CDH11	STX1A	CERS3	DNAJC30	CDKL5	MYCN	TMEM147	TFAP2A	KIF7	DHX30	SNRPN	POMGNT1	CUL7	ERCC2	EDA2R	ADNP	BDNF	AP4B1	PCDHGC4	CHAMP1	H4C5	DOCK7	TFAP2B	EDAR	FOXG1	SOX11	FRMD4A	FGFR1	MYO18B	FOXC1	AP4M1	H3-3A	SMARCA2	DNMT3A	IFT52	SMS	RPL10	SCARF2	FGD1	REV3L	ERCC6	BUD23	NFIX	SRCAP	TNPO2	IDUA	PLXND1	SLC25A24	NIPAL4	IRX5	BAZ1B	ELN	RAB3GAP1	KIFBP	SUMO1	EIF4H	WDR26	TTC26	NAA10	TBC1D24	GTF2IRD2	KCNMA1	LIMK1	ATRX	ERCC1	IRF6	TCF3	TMEM270	OCRL	MDH1	AP4E1	CLIC2	PAX6	HRAS	MED25	AP4S1	WNT10A	ZSWIM6	IGF1R	ANTXR1	ASPRV1	GBA1	NRAS	WT1	GTF2H5
HP_TONGUE_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TONGUE_ATROPHY	FRG1	SBF2	NOP56	SH3TC2	EXOSC3	NEFL	DOK7	KY	SLC52A3	GSN	PANK2	ECEL1	OPTN	MORC2
HP_DECREASED_SPECIFIC_PNEUMOCOCCAL_ANTIBODY_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SPECIFIC_PNEUMOCOCCAL_ANTIBODY_LEVEL	IGKC	PIK3CD	ZAP70	IGHG2	CR2	CD81	CTPS1
HP_ABNORMAL_CEREBRAL_VEIN_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CEREBRAL_VEIN_MORPHOLOGY	GNAI3	EDN1	ALX4	RASA1	EPHB4	PLCB4	MSX2
HP_ABNORMAL_DENSE_GRANULES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DENSE_GRANULES	IKZF5	BLOC1S5	AP3B1	HPS3	HPS5	LYST	RUNX1
HP_PANNICULITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANNICULITIS	MEFV	RASGRP1	PRKCD	MYSM1	FAS	LCK	G6PC3	RNASEH2A	PSMB8	CASP10	PSMB4	PSMB9	RNASEH2C	TREX1	LSM11	RNU7-1	IFIH1	PSMG2	OTULIN	IKBKG	HAVCR2	KIF11	ADA2	SAMHD1	ADAR	FASLG	RNASEH2B
HP_DESCENDING_AORTIC_DISSECTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DESCENDING_AORTIC_DISSECTION	HEY2	MYLK	TGFB3	EMILIN1	PRKG1	LOX	SMAD2	MAT2A	FOXE3	FBN1	SMAD3	TGFBR2	TGFBR1	COL3A1	MYH11	MFAP5	TGFB2	ELN	ACTA2	SMAD4
HP_ABNORMAL_BRAINSTEM_WHITE_MATTER_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BRAINSTEM_WHITE_MATTER_MORPHOLOGY	CEP290	CSPP1	AHI1	LMNB1	ARL3	FLI1	INPP5E	CLCN3	NPHP1	TMEM216	CYP27A1	SACS	KIAA0586	TMEM67	LAMA1	ABCD1
HP_ABNORMALITY_OF_THE_PITUITARY_GLAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PITUITARY_GLAND	PMS1	FGF8	CYP11A1	WDR4	SMARCE1	PNPLA6	DLL1	FGF17	ZIC2	IARS2	SEMA3E	CTSK	PNLDC1	POU1F1	SHOC1	NDE1	PLCH1	KIAA0753	KLHL10	TAF4B	TGIF1	ZMYND15	GAN	OTX2	AIP	AR	TERT	BMP4	NUP107	ZFPM2	NODAL	WASHC5	PRKAR1A	FMR1	CDKN1B	IGF2	BRCC3	SIX3	MAGEL2	RNF113A	POMC	MSH2	AAAS	BTK	GLI3	GNAS	CYP17A1	DISP1	PSMC3IP	SRY	CNBP	SMO	DBH	SPIDR	MEN1	CCDC141	GPR161	WWOX	KISS1R	GAS1	HS6ST1	DCAF17	TMEM67	GLI2	LARS2	FANCM	STIL	SHH	POLR3A	TPO	FOXH1	ALMS1	CDH23	DUSP6	IYD	RRM2B	TP63	C14orf39	USP8	YY1	NFKB2	BAP1	LEPR	CTNNB1	WT1	GATA6	ARNT2	FLNB	MCM9	FGFR1	DUOXA2	APC	KMT2A	GPR101	SOX3	TSHR	FOXL2	NF2	LHX3	FANCF	TEX11	NR5A1	NDNF	CHD7	FARSA	ANOS1	SPRY4	EIF2S3	MSH5	CDON	PKD1	USP48	SRD5A3	IDH1	NDN	ZNF148	MT-TL1	DMRT3	SNORD115-1	COG2	SRPX2	ERF	PWRN1	EDA2R	ADNP	GNB2	KCNJ11	LHX4	SMARCB1	HID1	PDE8B	NR0B1	TG	PWAR1	GMNN	HESX1	SRP54	MAP2K2	GATA4	MADD	PROP1	GRB10	ALX3	FANCI	MTHFR	FSHR	MSH6	TBCE	PREPL	VPS13B	RFWD3	DHX37	SLC7A7	POLR3GL	FSHB	AFF4	OCA2	HBB	CCDC34	RBM28	DNAJB11	SNRPN	NANOS1	FIGLA	SYCE1	SLC16A2	ATRX	HFM1	TRAF7	FEZF1	ZSWIM7	SECISBP2	IGF1	IL17RD	BMPR1A	ZSWIM6	SEMA4A	SMC1A	DYRK1A	EFL1	THRB	SLC29A3	CDKN1A	PRLR	ARMC5	EDA	NONO	DUOX2	PCSK1	LEP	PROKR2	POLA1	GRM7	FOXA2	NKX2-1	GH1	MPDU1	XRCC2	SIM1	IDH2	WDR11	SMARCAL1	ESCO2	HSD17B4	GHSR	ADAT3	ACP5	ZNRF3	TSHB	PKD2	MKRN3	DHH	SUFU	RNPC3	FGD1	MRPS22	AVP	SLCO2A1	GCNA	SEMA3A	PTCH1	DCC	MSTO1	TDGF1	TP53	STX16	TDRD9	TRHR	THOC2	HPGD	KATNIP	TBX3	FAN1	PAX8	PI4KA	CEP57	IFNG	KRAS	PMM2	LHCGR	PDGFB	CDKN2B	TEX14	CPE	ESR2	TEX15	GDF9	MLH1	PSMB8	WFS1	AKT1	SIN3A	BRAF	PIK3CA	TMCO1	TBL1X	BMP15	POLR3H	RRAS2	MCM8	TACR3	FLRT3	MCM4	MED12	MARS2	HERC2	DIAPH2	MRPS7	SOX9	ROBO1	DMXL2	CDKN2C	CYB5A	BMPR1B	NPAP1	PROK2	TBX2	ADGRG1	CDC42BPB	PITX2	POLE	BNC1	STAG2	SNORD116-1	SLC35A2	IRS4	SYCP3	ABCD1	GANAB	VAMP7	SBDS	TBX19	PDE11A	POR	SOX2	PUF60	MSH4	NSMCE2	NR3C1	SOHLH1	PDGFRB	CBX2	APOA5	MT-ATP8	TSC1	POU3F4	EPCAM	RPS20	PDE4D	SLC5A5	HSD3B2	STAG3	ALG5	MAP3K1	TRAPPC11	TGFBR2	SIX6	PMS2	ESR1	PRKACA	VANGL2	KANSL1	STAT5B	ERCC6	TTC26	B3GLCT	DNAJC21	TSC2	CDKN2A	PPP2R3C	MLH3	MEIOB	FKBP6	CDKN1C	IGSF1	BICC1	LHB	SOX10	KCNJ18	IFT140	GHRHR	CFTR	GMPPA	VSX1	ALG9	TBCK
HP_ABNORMAL_SIZE_OF_PITUITARY_GLAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SIZE_OF_PITUITARY_GLAND	GHSR	MAGEL2	NF2	SMARCE1	KIAA0753	BAP1	COG2	NDE1	SMO	TRAF7	SUFU	MED12	PIK3CA	TERT	GNB2	FGF8	CTNNB1	SMARCB1	AKT1	BRAF	CDH23	RBM28	VSX1	HS6ST1	SIM1	PDGFB	NFKB2
HP_SMALL_PITUITARY_GLAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_PITUITARY_GLAND	GHSR	MAGEL2	GNB2	FGF8	KIAA0753	COG2	RBM28	VSX1	HS6ST1	NDE1	SIM1	MED12
HP_METAMORPHOPSIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METAMORPHOPSIA	BEST1	PRRT2	GNA11	CACNA1A	EFEMP1	CRX	PRPH2	SF3B1	BAP1	CFH	CYSLTR2	CFI	GNAQ	ENPP1	ABCC6	SCN1A	ATP1A2
HP_EXTRA_AXIAL_CEREBROSPINAL_FLUID_ACCUMULATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXTRA_AXIAL_CEREBROSPINAL_FLUID_ACCUMULATION	TBCK	MADD	TET3	TSEN15	GRIK2	LMNB2	NUP214	LMNB1	COPB2	PPP1R21
HP_TEMPORAL_OPTIC_DISC_PALLOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TEMPORAL_OPTIC_DISC_PALLOR	OPA1	DNM1L	EFEMP1	CYP1B1	MYOC	MAG
HP_DIFFUSE_OPTIC_DISC_PALLOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFUSE_OPTIC_DISC_PALLOR	COL18A1	B3GALT6	KLHL7	SCAPER	ZNF408	TUBB4B	MMP19	COL4A1	C1QTNF5	CNGA3	POMGNT1	DPAGT1	TUB
HP_UPPER_LIMB_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_LIMB_PAIN	MAFB	IDUA	KRT5	COMP	MFN2	FLI1	KRT14	B2M
HP_LOWER_LIMB_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_LIMB_PAIN	KRT6B	SPG7	COMP	COL9A3	HYAL1	COL2A1	FAR1	ACP5	TONSL	ERLIN1	ALDH18A1	GJB2	RASA1	MME	TRAPPC2	PRKRA	MFN2	COL9A2	KRT14	TGFB1	MAFB	KRT17	COL9A1	KRT16	LEMD3	MT-TK	LMX1B	B2M	MT-ATP6	MATN3	NLRP12	HTRA1	KRT6A	HEPHL1	KRT5	SLCO2A1	BSCL2	GJB6
HP_HIP_FLEXOR_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIP_FLEXOR_WEAKNESS	CHRNE	GNE	FLNC	CHRND	AK9	CHRNA1	CHRNB1	RAPSN	DOK7	MYOT	SCN4A	LRP4	COL13A1	AGRN	MUSK
HP_ABNORMAL_CIRCLE_OF_WILLIS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCLE_OF_WILLIS_MORPHOLOGY	ENG	TGFBR3	ANGPTL6	COL3A1	THSD1
HP_DILATION_OF_VIRCHOW_ROBIN_SPACES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DILATION_OF_VIRCHOW_ROBIN_SPACES	ODC1	PLXNA1	HTRA1	KMT5B	SIAH1	RIN2	H3-3A	PTEN	ASXL2	RPL10	CLCN3	COL4A1	NGLY1	DCX	PAFAH1B1	ALG2	H4C9
HP_SPIDER_HEMANGIOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPIDER_HEMANGIOMA	SEMA4D	GPR35	SLC37A4	MST1	TCF4
HP_ORAL_AVERSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORAL_AVERSION	ARID2	ARID1A	PACS1	SMARCC2	ACAT1	SMARCB1	MEIS2	GRB10	SMARCA4	ARID1B	SLC7A7	DPF2	SMARCD1	SOX4	SMARCE1	SOX11
HP_ABNORMAL_NUMBER_OF_DENSE_GRANULES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NUMBER_OF_DENSE_GRANULES	IKZF5	BLOC1S5	AP3B1	HPS3	HPS5
HP_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAIN	PMS1	CHCHD10	NLRP3	ZFTA	SDHB	SPINK1	FKRP	ARSB	COL2A1	VPS37D	VCP	CYP27B1	BAP1	ACAD9	MTMR14	FOXE3	POMT1	BRCA1	VHL	MFN2	C1R	PRNP	ECE1	UBA1	STAT6	TERT	MINPP1	DNMT3A	MT-TK	TNFRSF11B	TGFB2	HFE	POMP	FMR1	PRPH	CDKN1B	TP53	THPO	DGUOK	CR2	ASXL1	SMAD2	JAK2	SFRP4	MSH2	C1S	SH3TC2	GP1BB	GNAS	MAT2A	FHL1	IL1RN	DCC	CNBP	CPT2	GUCY2C	COL17A1	FTL	DYSF	SEPTIN9	COL10A1	PTPN3	CARD8	IDH1	COMP	MAX	NFKB1	HBG2	MYH11	POLG	POLR3A	CARS2	PRKAG2	WNT3A	MYO1E	PRDM5	TGFBI	ANTXR2	ERBB4	TRPS1	PRTN3	FDX2	HGD	PMP22	TGFBR1	SQSTM1	MAFB	PTPN2	LMNA	HPS1	DKK1	B2M	NLRP12	SI	FKBP6	SCNN1B	BVES	NPHS1	PHKA1	RYR1	FOXP1	HNRNPA2B1	KIF7	APC	CCND1	HEY2	NPRL2	MSMO1	PAX2	PYGM	CDC73	ACTN4	COL11A2	TRIP13	SCN4A	HBB	SLC4A1	COL4A5	IL2RA	MMUT	BRCA2	PON3	GNA14	NNT	PKD1	COL9A1	MPL	OPLAH	CD19	SDHA	ATRX	IL12A-AS1	TGFBR2	CAVIN1	GNA11	TEK	CRPPA	IGKC	SLC25A4	TNFSF11	OPA3	NGLY1	TLR7	SLC12A3	TREH	CLPB	PFN1	CAV3	SMARCB1	IL12B	DDB2	MLX	PIGT	SF3B1	COL3A1	KRAS	MT-TL1	PKHD1	WT1	ERCC2	NUP93	SLC40A1	RRM2B	TARDBP	FLI1	HTRA1	ENO3	SLC25A11	TREX1	EPAS1	STAT3	KRT14	KIF1B	SPAST	TRIM28	FLNC	MEFV	HEXB	MT-TE	ALDH4A1	PON1	POLR3GL	BAZ1B	TRPV4	BMP2	ZNF687	ALDOB	GNE	DNAJB11	BTNL2	SEC24C	NOTCH2	CCNF	ALDH18A1	DCTN1	SMPD1	HLA-B	WRN	PRSS1	DAXX	ABCG8	VANGL1	EIF4H	DNM1L	CPOX	FGF13	NLRC4	IL10	FERMT3	KLRC4	NPRL3	DLL3	CD2AP	SDHD	PHKG2	ANK1	ASPN	APRT	MRPS2	MC2R	HADHA	CASQ1	TRAPPC11	NUMA1	MATN3	SOX10	COL5A1	TNFRSF11A	WNT1	PRKCD	SMO	IDH2	ERCC5	PTH1R	GRHL2	IL6	RNU4ATAC	DNASE1L3	CDH2	HLA-DQA1	HYAL1	NEK1	TYROBP	ACP5	HPDL	TMEM43	ANLN	ZNRF3	SCNN1G	PRKAR1A	ANKH	COL9A2	TNXB	LMNB2	UNC13A	HABP2	PRSS2	MALT1	MVK	EMD	METTL27	SPTA1	CD244	TBX1	ACTA2	STAT4	H19	TGFB1	CEBPE	GLA	ABCC2	PLEKHM1	LRP5	TONSL	EPB42	STK11	KCNN4	GJB2	NPHS2	ARHGDIA	TNFRSF1A	PTPRO	RET	DNA2	SLC22A12	IRF4	MEF2A	ERBB2	GLE1	GCGR	PTPN22	PDGFB	ACADVL	OTC	CRB2	ERAP1	HS3ST6	NUP37	BCL7B	GPR35	NRTN	KY	NCF1	CTNNB1	GDNF	COL7A1	MLH1	MYH3	ABCD1	MYH7	PNPLA2	INF2	ICOS	DIS3L2	COL8A2	CDKN2A	ANKFY1	IFNGR1	CCDC78	DEPDC5	KLF1	PPARG	COL11A1	SPP1	RABL3	PORCN	RAD21	MCM6	DNAJB6	CD46	SLC34A1	MED12	RASA1	SLC26A2	RARA	COL1A1	MSTO1	SLC25A26	CDKN2C	TNFRSF13B	ENG	ASAH1	REST	BMP6	HLA-DRB1	CHMP2B	LPIN2	HNRNPA1	KRT6B	FSHR	COL9A3	TCIRG1	HMBS	PALB2	CD55	CTRC	FGF23	NABP1	BMPR1A	EPB41	HLA-DQB1	HIRA	G6PD	TSC1	C4A	LDLR	FLT1	DGAT1	SPG7	TET2	ALDOA	IL23R	CEL	BCL11A	PNPT1	ARVCF	SDHC	GPC3	NPM1	PALLD	STIM1	HELLPAR	NFKBIL1	UBQLN2	COL4A6	BUD23	BIRC3	MYL2	EPCAM	RPS20	SOST	AP2S1	SRP54	CYSLTR2	MYBPC3	CORIN	NDUFAF6	MYOT	FAR1	NFKB2	PMS2	PIGA	ESR1	MMP1	GPR101	DMPK	RNF168	DLEC1	TYMP	CTNS	CBL	MATR3	ADA2	MESP2	RELA	MLH3	NF1	CD81	CFTR	RIPK1	SEC63	ABCB4	EHHADH	ATP8B1	JMJD1C	RNASEH1	COPA	SLC34A3	NUP133	DDIT3	C9orf72	LMX1B	F8	TNFSF12	TBL1XR1	SPTB	PCSK9	KRT5	ATL1	MDM4	IRF2BP2	WIPF1	SMARCE1	CTSK	ZEB1	FIP1L1	TCF4	FOXE1	FKTN	TBK1	PSAP	ATXN2	FUS	GATM	LEMD3	TLR4	CFH	TSC2	COX6B1	COQ7	CASR	STAT5B	FH	SEMA3D	MMP2	CHEK2	DMD	FBN1	EXT1	AGBL1	RREB1	CLCN7	ATP7A	HSPG2	CYP19A1	MTX2	MLXIPL	CALR	LOX	ERLIN1	MAGI2	EDN3	PON2	NUP205	TXNRD2	HLA-DPB1	SCNN1A	IKZF1	OVOL2	CPA1	XPC	POLG2	WAS	NF2	ABCA1	LACC1	MME	SCN5A	ANO5	TRPC6	GBA1	MTTP	SAA1	SCARB2	LMNB1	CLIP2	SCN11A	BCOR	TAF15	VWA1	ENPP1	CYP2R1	PML	TRPM4	ATL3	F5	SLC2A9	SPTBN1	CCN2	MLYCD	EXT2	TMEM127	EDNRB	GNB2	CLCN5	ALAD	NR1H4	DSG2	MDH2	FIG4	CAV1	DSE	SRSF2	MRAP	PGAM2	POLE	SERPING1	SCN9A	CLCNKB	DMP1	MYC	COQ8B	PGK1	LIG3	NOD2	LPIN1	APOB	CHST3	PIGY	AAGAB	LBR	MSH6	IRF5	STAR	SPTLC1	UNC45A	TK2	PPOX	SYNE1	COMT	PHEX	REEP2	ELN	UFSP2	SVIL	LRP1	ABCG5	IRAK1	RB1	GNAQ	TRAF7	SNX10	NTRK1	MLIP	CRLF1	CCN6	SOD1	ERBB3	NUP107	TBX18	SEMA4A	CAT	MFAP5	HARS1	ATP7B	CDKN1A	DAO	GYPC	PRKG1	MEN1	DNM2	AMPD1	UQCRH	SH2B3	HLA-DPA1	ATXN3	P4HA2	AMPD3	EPHA4	VDR	BSCL2	DLST	CLCN1	CD247	TREM2	ABCC6	MOCOS	KIT	LDLRAP1	CHST6	F12	PKD2	SPTLC2	CAPN3	CLDN16	PHKA2	MITF	DPM3	HPGD	MT-ATP6	SLCO2A1	MT-CO3	PPARGC1A	SYNE2	TBC1D8B	STX16	TWNK	GFI1	CIITA	AIP	FAN1	GTF2IRD1	PRKRA	DBH	NTN1	PSMB9	CDKN2B	PDGFRA	ACTC1	SLC34A2	ERCC3	CTLA4	NOS1	ABCB11	ACADM	MIEF2	WWOX	ADAMTS19	EMP2	GAPVD1	STING1	ANKRD55	PLCG2	PSMB8	APOL1	SYK	CFAP410	IDUA	AKT1	RFC2	RBCK1	RAD51	POU6F2	PIK3CA	TBL2	FLVCR1	IL2RB	ZNF469	NKX2-5	CFI	GTF2I	MET	ANXA11	TRAPPC2	GLT8D1	SLC22A4	PIEZO1	SEMA3C	NEFH	NKX3-2	BIN1	PRORP	PRKCSH	STX1A	ELANE	PIK3CG	DNAJC30	ALMS1	COL5A2	SLC39A14	VAPB	PTPN11	TNNC1	TRPA1	MYLK	ZBTB16	TRIM32	ANG	ELF4	GNPTG	KRT6A	ACTG2	COL4A3	GANAB	SREBF1	IL12A	XPA	PLCE1	CCR6	ORAI1	SERPINF2	FN1	HOGA1	PSTPIP1	ZMPSTE24	KRT17	PTEN	HBG1	KRT16	AGXT	SMAD4	ALG5	VSX1	GJB6	PKDCC	TGFB3	LDHA	CASK	OPTN	ERCC4	MST1	RNF6	NUP85	CCR1	MYF6	SUFU	NAB2	TNFRSF13C	PSMB4	GTF2IRD2	LIMK1	OTULIN	COL14A1	OPA1	DDRGK1	MIF	MS4A1	IGHG2	PLN	STOX1	HADHB	TMEM270	LPL	RUNX1	SEMA4D	BICC1	BCL10	PHKB	NUP160	UBAC2	GHSR	EPOR	IFT140	SLC4A11	DNAL4	SCN1B	TBX6	TMEM126B	HEPHL1	EWSR1	ALG9	UFD1	ARHGAP24	FAS	MT-CO1	SDHAF2	DAAM2	SMAD3
HP_CHRONIC_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_PAIN	FLVCR1	COL7A1	MMP1	TGFB2	ATXN3	CTSK
HP_DYSESTHESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSESTHESIA	NLRP3	ZFTA	DKK1	CHST14	PMP22	GABRG2	GRIN2A	SRPX2	FMR1	SPTLC2	SCN10A	ABCD1	PRNP	ALDH4A1	RELA	PEX16	DSE	SDHA
HP_FOOD_INTOLERANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOOD_INTOLERANCE	COG8	ALG3	CLMP	MLXIPL	SRCAP	ELN	ASXL1	UNC45A	GALT
HP_NON_HODGKIN_LYMPHOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NON_HODGKIN_LYMPHOMA	PIK3R1	MLH1	CD28	ATM	CTLA4	RASGRP1	BCL10	SMARCAL1	CCND1	PRKCD	PTPRC	FAS	TP53	MSH6	CHEK2	ADA	POLE	NBN	TNFRSF1B	MDM2	SYK	RHOH	PMS2	IKZF3	CASP10	BIRC3	NTHL1	TTC7A	MALT1	ITK	XIAP	SH2D1A	MYC	HAVCR2	CDKN2A	FCHO1	FOXP1	FASLG	MAGT1
HP_CEPHALOHEMATOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEPHALOHEMATOMA	F2	GP1BA	CD109	ITGA2B	ITGB3	GP1BB	ITGA2	CDC42BPB	F8
HP_ELEVATED_ALDOLASE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_ALDOLASE_LEVEL	HSPG2	TGFB1	LPIN1	MT-CO1	MT-CO3
HP_ABNORMAL_INVOLUNTARY_EYE_MOVEMENTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_INVOLUNTARY_EYE_MOVEMENTS	GABRA3	KIF2A	NDUFA9	CACNA1E	VPS37D	PI4KA	PRPF4	CPLANE1	SLC2A1	ZNF699	GABRA5	CNNM4	FRMD7	TYR	RNASEH2C	PAX6	SPG11	ADAR	FOXC1	ALG1	FMR1	AP3D1	PGAP1	SLC7A14	NDUFAF2	OCA2	PCARE	SYT14	NKX6-2	ROBO3	PEX10	SH3TC2	SLC39A8	KLC2	GRK1	TRAF3IP1	TPP1	NDUFA2	TMEM126A	HNRNPR	FDXR	COQ2	RNASEH2B	RPGRIP1L	PRPS1	CRB1	POLR3A	TOPORS	BRCA2	EXOSC9	ARL3	HSD17B4	CHN1	CFAP410	GPR143	PIGN	PSMD12	PLP1	MECR	WARS2	YWHAG	FDX2	ERCC8	GLRX5	HPS1	GNAS	ELOVL4	SLC1A3	FKBP6	NDUFA1	AIMP1	NCAPG2	ATAD3A	NMNAT1	MT-ND6	ITPR1	ABHD5	NAGA	IGBP1	ANO10	MT-ATP6	MKS1	CHKA	PIK3R5	CYP7B1	GNB1	WT1	GRIA4	PEX2	CLP1	MPC1	MOCS1	GABRA2	MAFB	SLC6A6	NR2E3	PPP1CB	REPS1	EXOSC3	SOX10	CLDN19	TNFSF11	USH1C	OPA3	TULP1	GUCY2D	ABCC9	HPS3	ERMARD	SNRNP200	SIX6	KDM6A	GABRD	TTPA	PLA2G6	GNAT2	SLC25A24	GALNT2	SCN3A	TMEM63C	SEMA4A	PDE6A	SYT1	PLEKHG2	UBE3B	KIDINS220	THOC2	SLC9A6	SLC25A1	ZNF423	HTRA1	CACNA1G	SURF1	CISD2	SALL2	USH2A	TPK1	NR4A2	PURA	SUFU	NDUFS8	ATXN1	FGF14	TNFRSF11A	SPATA7	HCN1	TCIRG1	NDUFS1	LRAT	PRPH2	NDST1	LZTR1	ALDH18A1	PHF6	DARS2	IMPDH1	MAN2B1	TMEM237	RPE65	SLC19A3	CRX	EIF4H	MTRR	PEX3	TTC8	PEX11B	TCTN2	NEFL	ADAMTSL4	AHI1	UNC80	LAMA1	POLR3K	KCNH1	NDUFAF3	SDHD	ARV1	KIF5A	UBAP1	CEP290	PEX1	PDE6B	STUB1	PEX12	FZR1	SYNJ1	IFT140	MAK	LYRM7	WDR11	XRCC1	PHIP	CNOT3	P4HTM	CERKL	KATNIP	CPSF3	GDAP2	MMACHC	SCN8A	SACS	ATP2B3	CACNA1A	PRDX3	NECAP1	CC2D2A	EGR2	TRIM44	CTBP1	MTSS2	RRAS2	METTL27	ATP1A3	INPP5E	MT-ND5	SYNGAP1	GNAT1	ARMC9	TCTN3	FBN1	NDUFS4	TONSL	SLC17A5	TMEM231	GABRG2	MTPAP	ERCC4	FGF12	CPLX1	PRPF3	RBP3	SLC5A7	RPGR	SNX14	FRRS1L	HIBCH	CP	PCYT2	MPZ	IFT172	GFAP	ABCA4	ECHS1	GPR179	NCF1	TYRP1	NOP56	RP9	FOXRED1	TUBB3	SAMD9L	ADD3	HARS1	FUS	DCC	TRAPPC6B	SDCCAG8	WDR19	RD3	PEX13	CLN3	KRAS	RUBCN	TTC19	GM2A	OGT	FANCI	ERCC6	TAOK1	NDUFB9	TUBGCP6	GNB5	TOE1	UGP2	CNGB3	MOCS2	RTN4IP1	DPYD	POC1B	ASAH1	ATP1A2	CRYGC	GBA1	NDUFB3	GNB3	NUP62	NDUFS2	ERCC3	CACNB4	PEX19	KCNA2	NAXE	CNGA1	TRIM32	RNASEH2A	NDUFAF5	SLC18A3	MYO5A	TIMMDC1	ZFYVE26	MT-ND3	TOGARAM1	HSD17B10	PNPLA6	SAG	MAG	RHO	GRID2	PNPT1	MRPL12	ALG2	NUBPL	FANCF	BBS1	FRMD5	RPGRIP1	CARS1	LAMB2	DCT	GAN	WWOX	ARL2BP	SOST	GFER	CEP104	KMT2B	KCNB1	DPM1	OGDHL	GRIK2	RNF113A	WFS1	OTX2	FANCM	NSD1	UBE4B	MT-TW	PEX26	IFT43	KCNMA1	PANK4	HPDL	CASK	ANK1	TTR	KCNN2	CTNNB1	PROM1	SLC45A2	SAMHD1	DPAGT1	CABP4	PIGU	CACNA1F	AIFM1	BEAN1	MAP2K1	CYFIP2	NOTCH2NLC	FANCE	PMP22	EFNB1	FAM149B1	ADPRS	AFG3L2	LARGE1	KIF1B	FSCN2	NDUFB10	LCA5	FANCB	DNM1	TKFC	DAB1	CASZ1	CACNA2D1	KIAA0753	PSAP	IPO8	IDH1	VPS41	EXTL3	GDF6	PEX5	PHGDH	IQCB1	CACNA1B	COL18A1	CRYBB1	KANK1	EYS	PBX1	NPHP1	LONP1	CBY1	BBS5	PDE6C	TBL1XR1	TET3	ISCA2	CEP120	CWF19L1	BBS2	HMX1	ACTL6B	CELF2	TAF1	RIT1	SLC29A3	NDUFA12	PMPCA	SLC4A11	LMNB1	NDUFS7	NDP	NSUN2	CLRN1	HYLS1	PRDM16	FA2H	AGBL5	ARNT2	RAD51C	FOXL2	BLOC1S3	CEP41	FOXP1	FANCA	MME	ANOS1	FRMPD4	NDUFS3	CTDP1	NEU1	PEX16	NDUFA4	SLC6A19	PHYH	EXT2	SLC16A2	KIF7	SPTBN4	LYST	CACNA1H	NDUFV1	CHD7	UROC1	ARHGEF2	CLPB	KRT5	DOHH	EPG5	TMEM126B	VPS13D	CHAT	MARS2	MPLKIP	COG4	FXN	CLCN7	CENPE	PTPN22	GMPPB	MT-TV	CLCN3	PIGT	AARS1	NDUFAF1	MMP23B	TRAK1	RP1L1	RLBP1	TCTN1	GRM6	ELN	ERCC1	ANKRD11	TMEM67	SCN2A	WHRN	LRIT3	APTX	MC1R	HSPD1	ERLIN2	SNX10	ALS2	ALX4	TENM3	PEX14	MPV17	SIL1	OCRL	PTCD3	SPTBN2	NDUFS6	YARS2	ELOVL5	SIGMAR1	HLA-B	PROKR2	NDUFAF4	P4HA2	ACOX1	PNPO	NFIX	CNGA3	ANTXR1	ERCC2	HIKESHI	NDUFV2	GJC2	AFF3	VRK1	PRKCG	ATP13A2	BBS10	CBL	SPEN	TUB	SKI	KCNC3	AP3B2	STX16	CNKSR2	ACO2	AGTPBP1	LZTFL1	HLA-DRB1	OCLN	MINPP1	NHS	PMM2	WDR35	DKK1	EBP	OPN1LW	EDNRB	CLTRN	GBA2	MAB21L2	KIAA1549	PSAT1	ELOVL1	RNU12	ERCC5	VPS13B	SLC38A3	NEK2	LETM1	DHCR7	RAB11B	LUZP1	SCO2	NDUFA6	VWA3B	NADK2	PYCR2	PEX6	GATA1	PACS2	MTR	UBE3A	ARL13B	OPN1MW	KRT10	RNF216	PLK4	MT-ND4	GTF2I	CDHR1	DOLK	GPAA1	PCYT1A	PLAA	NDUFB11	PRKD1	ATCAY	NTRK2	MYO9A	EEF2	IFT88	ALMS1	ZNF292	MT-ND2	ARX	ADGRG1	CERS1	RERE	COQ5	CNGB1	SNIP1	SOX3	TBC1D24	KARS1	CAV1	TELO2	SALL4	TACO1	IFT74	DALRD3	HESX1	MTFMT	TARS1	CFAP418	IFT52	HS6ST1	IRF2BPL	TMEM216	SPRED2	DNM1L	ATXN10	ASH1L	LRP4	ATXN7	USP7	MAF	SLC5A6	MTRFR	TUFM	GJA1	CYP27A1	RPIA	SQSTM1	GRIN2D	B3GLCT	PLXNA1	GTF2IRD2	POLR3B	LIMK1	IFIH1	DHX37	WDR48	CRIPT	MT-TL1	PDE6H	CACNA2D4	TMEM270	MRPS34	FUZ	GABBR2	SLC35A1	SIN3A	UBA5	LRP5	GJB1	TTBK2	B9D1	SCN1A	EP300	ACBD5	ADGRV1	MN1	SEMA3E	KCNJ13	YARS1	RGR	IDH3A	EEF1A2	HECW2	MT-ND1	OXR1	BMP4	OPA1	EIF3F	SLC25A20	LIM2	SETD2	TMEM240	ATXN8OS	NSD2	HPS6	NDUFA13	MYO7A	AGK	ATP6V1E1	SLC25A46	CRYAA	PTPN11	COX15	PUS3	MBTPS2	XYLT2	DNAJC12	CCDC141	CSPP1	SERPINI1	VPS33A	TWNK	PALB2	HK1	BLOC1S6	BEST1	DUSP6	RP2	TMEM218	KIF11	SCUBE3	PPP2R5D	WDR45	RNU7-1	PRX	SPATA5	MAD2L2	NDNF	KCNV2	MCOLN1	SPRY4	ABHD12	BCAS3	PRDM13	FAT2	BRIP1	MRE11	DHCR24	HTT	SRY	DNMT1	RAD21	EXOSC2	DNMBP	SRPX2	PAK2	HID1	LRMDA	COX10	SLC33A1	FCSK	FASTKD2	IBA57	NRL	PDHA1	CEP78	SPAST	LSM11	MAPK8IP3	TUBA1A	OPN1SW	BAZ1B	CCDC28B	PAX2	SLC35A2	IFT122	GTF2E2	DGUOK	JAM2	SLC52A2	SDHAF1	PRPF8	FEZF1	SON	L1CAM	RBL2	ATP6V1A	SLC13A5	MMADHC	RHOA	FOXE3	PITX2	KIZ	RFC1	SCAPER	PRR12	FGFR1	PRDX1	ATXN2	HNRNPH1	SYT2	CYP1B1	SNRPN	DPP6	FANCC	POMGNT1	RNU4ATAC	BRD4	ASPA	KCNK4	FAM161A	ATOH7	FGF8	GUCA1B	SLC24A1	PEX7	NAA10	RAB18	NANS	CSF1R	XRCC4	SEMA3A	FGF13	PHF21A	FGFRL1	DHDDS	BLOC1S5	MICOS13	HMGB3	OSTM1	AHDC1	MRAS	DLAT	PDE6G	GTF2H5	AP3B1	MAP2K2	EXOSC8	CLN5	EXOSC5	BCL7B	SETX	PPP1R21	MAPKAPK5	PDGFRB	TBP	PPP3CA	OFD1	DCX	GFM1	COL11A1	CRYGD	OPHN1	WDR73	ALG3	PAX7	GABRB2	TRPM1	PIGG	STX3	ALG13	FLRT3	TUBB4B	USP45	XRCC2	NDUFA11	TAF2	TRIP13	RARS1	KMT2D	LIPT1	KIF1C	NDUFAF8	AP4E1	PRKCZ	SDHB	BRAF	B9D2	MKKS	SPG7	PRCD	CREBBP	H3-3A	ATF6	SOX2	SMPD1	KCND3	FOCAD	SLC38A8	B4GALNT1	BUD23	IFRD1	POU3F4	SNAP25	MT-TK	ATG5	HPS5	RAF1	JRK	GATA3	TMEM63A	PRNP	CLTC	SLC9A1	CLDN11	FAR1	TMEM138	LMBRD2	GCH1	SDHA	HGSNAT	CDH3	CRYBB2	NTNG2	NT5C2	FANCG	RNASET2	PDZD7	PORCN	AIPL1	AHR	TBCK	BCOR	BBIP1	FGF17	IARS2	VLDLR	FBXL4	PRSS12	UBE2T	CDK19	CEP19	PRPF31	NARS2	ATN1	HSPG2	TUBB4A	NDUFB8	LIG4	CACNA2D2	GALC	GRM1	NALCN	PDP1	RRAS	REEP6	SMC1A	TSPAN7	ADORA2A	RDH12	FLRT1	YAP1	MLXIPL	IMPG1	TUBGCP4	GABRB3	SPTLC1	ABCB7	GDF3	GMPPA	PACS1	SRD5A3	POU4F1	LAGE3	APC2	DEGS1	TMEM106B	NDUFA10	PDPN	GRIN2A	RIMS2	INPP5K	ATP6V1B2	IMPDH2	CLIP2	USP8	CRYBA4	RFWD3	PDE6D	SREBF1	KIF1A	SLC24A5	MED12	NRAS	BDNF	ARHGEF18	EPRS1	BRCA1	SLC12A6	DDB1	ROM1	ATP5F1A	CA4	ZNF513	PET100	IFT27	ATM	KLHL7	IL17RD	IQSEC2	HUWE1	NPHP4	CAPN1	POLG	MERTK	ATXN3	BBS4	POGZ	KIAA0586	ALG8	SOS1	KRT14	PLD3	RP1	TUBB2B	EIF2S3	CLDN16	PRPF6	BBS12	COL13A1	CEP164	UCHL1	THG1L	PIBF1	HDAC8	IMPG2	ARID1B	ADSL	TAT	RORA	HPS4	MPDU1	GTF2IRD1	CLCN6	PIGQ	WDPCP	CNTNAP2	VAMP1	TBCD	SZT2	TREX1	GJA8	SLC19A2	NSUN3	RFC2	FANCD2	BRAT1	TBL2	PPFIBP1	PRRT2	EMC10	TACR3	SLC25A4	KCNAB2	PARS2	DTNBP1	TFAP2A	NELFA	ARL6	STX1A	DARS1	DNAJC30	PROK2	TANGO2	NIPBL	NR2F1	GABRA1	RECQL4	L2HGDH	SLC6A3	SOS2	SMC3	ESCO2	RASA2	ZNF408	CAMK2B	NDUFAF6	SYNE1	MVK	SLX4	AGRN	BBS7	FANCL	BBS9	TDP1	IDH3B	DHX38	TINF2	NYX	AARS2	MAB21L1	OTUD5	NUS1	PIGS	SLC1A2	APC	CLTCL1	RAD51	BUB1B	MTHFR
HP_FATTY_REPLACEMENT_OF_SKELETAL_MUSCLE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FATTY_REPLACEMENT_OF_SKELETAL_MUSCLE	MYH14	CRPPA	ITGA7	VCP	CFL2	FLAD1	NEB	POMT1	TTN	POPDC3	MYOT	ANO5	GIPC1	PNPLA2	SECISBP2	CAPN3	SMPX	FKTN	RILPL1	HNRNPA1	GNE	DNAJB6	LMOD3	ANXA11	PMP2	HNRNPA2B1	FKRP	FXR1
HP_ABSENT_THUMBNAIL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_THUMBNAIL	KCNA1	SCN2A	GNAO1	PIGQ	PIGP	GRM7	TRIM8	SCN1B	ARX	NEUROD2	DMXL2	KCNH1	ATP6V1B2	SIK1	SLC25A22	GRIN1	CASK	CDKL5	PNKP
HP_DELAYED_MENARCHE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_MENARCHE	DNM1L	ZMPSTE24	STUB1	SLC25A13	PEX10	GHR	ALMS1	LMNA	PTPN11	FSHB
HP_ABNORMAL_NEPHRON_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NEPHRON_MORPHOLOGY	FOXP3	DNASE1L3	FCGR2B	MT-ND4	SDHB	WDR4	WIPF1	TP53RK	NPHP4	LMX1B	VPS37D	IFT122	ITGA3	TREX1	ANLN	IL10	C1QA	VHL	MYOCD	CPT2	LMNB2	MT-ND1	TMEM67	SLC41A1	TLR4	DNMT3A	MT-TK	DNASE1	NARS2	TBC1D8B	APOL1	METTL27	MT-ND5	GLIS2	RET	DPH1	STAT4	SHPK	TRIM8	NUP85	NDUFS2	GLA	RASGRP1	MT-TH	LMNA	MT-TL1	AGT	AVIL	FH	NPHS2	CTNS	NDUFB8	GTF2IRD1	BSND	ARHGDIA	PUS3	NPHS1	TRAF3IP1	HLA-DRB1	PTPRO	NUP133	KCNJ1	WT1	SLC22A12	MAX	XPNPEP3	BCS1L	PMM2	JAG1	VPS33A	SCARB2	HNF1B	CTLA4	CRB2	CLCN5	ERAP1	NUP37	COL4A3	SOX18	MMACHC	BCL7B	MLXIPL	ALMS1	MTX2	MYO1E	GON7	EMP2	NCF1	PRTN3	LAMA5	COL7A1	GAPVD1	SOCS1	SPRY2	MAGI2	INF2	ANKFY1	IFNGR1	NUP205	MME	PGM3	HLA-DPB1	FKBP6	NPHP3	SLC12A1	VPS33B	MT-ND6	RFC2	REN	PTPN22	FASLG	WAS	RNU7-1	LAGE3	TBL2	MT-ATP6	PAX2	NF1	FN1	WDR73	NUP107	CD81	SMARCAL1	GTF2I	SLC37A4	RPGRIP1L	ACP5	ACTN4	TRPC6	COQ6	YRDC	SLC30A9	SCO2	MT-TS2	CLIP2	SDHD	TPRKB	CFHR5	NPHP1	SDHA	MMUT	DGKE	AGTR1	IL12A-AS1	MT-TQ	STX1A	NUP160	WDR19	TULP3	COL4A5	DNAJC30	ITGB4	AMMECR1	MT-ND2	SLC2A9	MT-TE	FAH	C4A	NOS1AP	DCDC2	SGPL1	FAS	OSGEP	LAMB3	ADA	TMEM127	HLA-B	COQ2	PRKCD	MDH2	FCGR2A	MT-CO1	CFI	MRPS22	IL12A	NUP93	IL23R	PLCE1	CLCNKB	NDUFAF6	CD151	MEFV	COQ8B	SDHC	UMOD	SLC25A11	COL4A4	EPAS1	SURF1	FOXC2	KANK2	CD2AP	KIF1B	NDUFAF3	BUD23	SEC61A1	ANTXR1	MT-TV	KIRREL1	SLC7A7	GATA3	MRPL3	BAZ1B	C1QC	DAAM2	ELN	PKHD1	PBX1	MMP1	LAMC2	CCR1	LPIN2	MT-CO2	GBE1	EIF4H	MT-TW	MTRR	CASP10	NAA10	GTF2IRD2	LIMK1	ZNFX1	G6PC1	MT-TF	DNASE2	PDSS2	KLRC4	LAMB2	MT-ND3	TMEM270	OCRL	CFH	MUC1	JAK1	CEP83	HLA-DPA1	LAMA3	COPA	ACE	KCNE5	ELP1	UBAC2	APOE	ZAP70	FAN1	ACSL4	MT-CO3	C1QB	BTNL2	ARHGAP24	PLEC	DLST	INVS	SDHAF2	SLC12A3
HP_MINIMAL_CHANGE_GLOMERULONEPHRITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MINIMAL_CHANGE_GLOMERULONEPHRITIS	CD2AP	NUP93	PAX2	PLCE1	LMX1B	MYO1E	NUP107	SMARCAL1	COQ8B	EMP2	MAGI2	NPHS2	ANLN	GAPVD1	ACTN4	NUP85	ARHGDIA	NUP160	TRPC6	KANK2	PTPRO	INF2	APOL1	ZAP70	WT1	ANKFY1	NUP133	NUP205	NPHS1	KIRREL1	COL4A3	TBC1D8B	ARHGAP24	CRB2	LAGE3	NUP37	DAAM2
HP_RENAL_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_ATROPHY	MAFB	DCDC2	TMEM67	ZMIZ1	ALG5	MUC1	PAX7
HP_MACROSCOPIC_HEMATURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACROSCOPIC_HEMATURIA	ITGB3	GP1BA	APRT	ITGA2B	GP9	CD81	F8	GP1BB	HPRT1
HP_STEROID_RESISTANT_NEPHROTIC_SYNDROME	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STEROID_RESISTANT_NEPHROTIC_SYNDROME	NUP85	CRB2	NUP205	TPRKB	NUP93	AVIL	KIRREL1	LAMA5	EMP2	SGPL1	NUP160	COQ6	DAAM2	NUP133
HP_ABNORMAL_URINARY_ELECTROLYTE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINARY_ELECTROLYTE_CONCENTRATION	DNAJC30	CYP11A1	CLDN19	ABCC6	VPS37D	IFT122	SLC2A9	KCNJ10	PTH1R	DCDC2	SLC12A3	PKD2	CLCNKB	FGF23	GCM2	SLC34A1	CYP11B2	ENPP1	SCNN1A	TGFB1	CLCN5	CLDN16	AVPR2	TMEM67	GATM	MEN1	SLC2A2	CASR	EHHADH	OCRL	AMMECR1	METTL27	CDKN1B	GANAB	MRAP	ELN	ADCY10	MAGED2	CLCNKA	CTNS	INPPL1	HNF1B	CFTR	DMP1	GNAS	KCNJ5	KCNJ18	HNF4A	CACNA1S	INSR	NNT	GTF2IRD1	BSND	HLA-DRB1	ATP7B	KCNJ16	KCNJ1	BUD23	SLC22A12	ATP6V0A4	STAR	PIGT	CYP24A1	SLC9A3R1	AP2S1	CDKN2B	HSD3B2	FCGR2A	ALG5	BAZ1B	PHEX	ALPL	FAM20A	CDC73	BCL7B	DNAJB11	MLXIPL	NDUFAF6	HSD11B2	NCF1	SURF1	CLDN10	EIF4H	MT-TN	CYP11B1	GTF2IRD2	LIMK1	TXNRD2	NRAS	SARS2	FKBP6	FXYD2	SLC12A1	NR0B1	RFC2	CDKN1A	TBL2	CDKN1C	TMEM270	ALDOB	MUC1	BICC1	ATP1A1	COA8	KRAS	GTF2I	MC2R	SLC34A3	TNFRSF11B	PIK3C2A	IFT140	CLIP2	HRAS	SERPINA6	PKD1	CDKN2C	BTNL2	ALG9	GNA11	STX1A	GABRA3	CYP21A2
HP_ALBUMINURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALBUMINURIA	MIA3	IFT140	INS	DNAJB11	PEX1	GALT	PKD1	SLC37A4	KCNJ11	BICC1	ABCC8	PDX1	STAT3	ALG9	GCK	GANAB	PKD2	ALG5	IER3IP1
HP_MODERATE_ALBUMINURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MODERATE_ALBUMINURIA	MIA3	STAT3	INS	GCK	SLC37A4	KCNJ11	IER3IP1	ABCC8	PDX1
HP_MILD_PROTEINURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MILD_PROTEINURIA	SLC22A12	KARS1	WDR19	SLC2A9	VPS50	PAX2
HP_ABNORMAL_URINE_POTASSIUM_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_POTASSIUM_CONCENTRATION	CYP11A1	NDUFAF6	CLCNKB	ATP1A1	KCNJ10	EHHADH	KCNJ18	CACNA1S	SLC12A3	BSND	KCNJ1	CTNS	GATM	SLC34A1	SERPINA6	CLCNKA	SLC12A1	GABRA3
HP_ABNORMAL_URINE_PHOSPHATE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_PHOSPHATE_CONCENTRATION	FAM20A	CDC73	ALDOB	INPPL1	ENPP1	NDUFAF6	ABCC6	DMP1	SLC34A1	GNAS	COA8	KRAS	PTH1R	SURF1	EHHADH	CTNS	HNF4A	CASR	SLC34A3	FGF23	ATP7B	CLCN5	GCM2	SLC2A2	MT-TN	GATM	PHEX	HRAS	NRAS	MEN1	SLC9A3R1	OCRL
HP_ABNORMAL_URINE_SODIUM_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_SODIUM_CONCENTRATION	AVPR2	CYP11A1	GATM	STAR	SLC34A1	NDUFAF6	HSD11B2	NNT	TXNRD2	CLCNKA	KCNJ10	MC2R	EHHADH	BSND	CLCNKB	MRAP	CYP11B2
HP_HYPERNATRIURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERNATRIURIA	MC2R	CYP11A1	AVPR2	STAR	BSND	CLCNKB	NNT	MRAP	TXNRD2	CLCNKA
HP_RENAL_SODIUM_WASTING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_SODIUM_WASTING	EHHADH	KCNJ10	GATM	SLC34A1	NDUFAF6	CYP11B2
HP_ABNORMAL_URINE_MAGNESIUM_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_MAGNESIUM_CONCENTRATION	FXYD2	CLDN16	KCNJ10	SLC12A3	CLDN19	CASR	ATP1A1	IFT122	GNA11
HP_ABNORMALITY_OF_URINARY_URIC_ACID_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_URINARY_URIC_ACID_LEVEL	ALDOB	SLC22A12	GATM	SLC34A1	NDUFAF6	MOCS1	PRPS1	SLC2A9	MOCS2	EHHADH	PNP	HPRT1
HP_ABNORMAL_URINE_CYTOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_CYTOLOGY	PML	ITGB3	DNASE1L3	COL4A5	HPRT1	SDHB	CFI	IRF2BP2	ITGA2B	AMMECR1	HMOX1	SREBF1	SLC2A9	ACP5	B2M	GP1BB	MMACHC	SPTBN1	STAT4	FIP1L1	VHL	NOS1AP	PKD2	COL4A1	WT1	NABP1	ITGA2	LMNB2	ZBTB16	GP1BA	TMEM127	CLCN5	CLDN16	MDH2	GRHPR	DNMT3A	F8	TSC1	THBD	GANAB	RET	TSC2	FGA	CTNS	CFB	SLITRK6	ADAMTS13	NUP85	STAT5B	H19	HNF1B	GLA	PBX1	CLEC7A	NUP93	SERPINF2	FH	SDHC	GPC3	NPM1	SLC25A11	GDF2	TREX1	COL4A4	EPAS1	STAT3	HLA-DRB1	ITGA6	GBA1	HOGA1	KANK2	AGGF1	FN1	CD2AP	MCFD2	COL4A6	APOA1	NUP133	KIF1B	PTPN22	SLC22A12	APRT	MAX	SMAD4	TRIM28	GP9	CD46	AGXT	CD109	SLC34A2	PRKAR1A	GATA3	INF2	CTLA4	ALG5	HBB	ACVRL1	YAP1	COL4A3	PAX2	DNAJB11	CUBN	PRTN3	IRAK1	LYZ	MYO1E	SPRY2	LPIN2	SLC5A1	TRAF3IP2	DIS3L2	LMX1B	IL17RA	HLA-DPB1	SPP1	NOTCH2	POU6F2	LMAN1	OCRL	F2	UMPS	NF1	CFH	F5	SDHD	BICC1	CD81	SMARCAL1	HLA-DPA1	ENG	PRDX1	SLC37A4	TRIP13	RARA	F10	KCNE5	HLA-B	IL17F	NUMA1	SCARB2	IFT140	FAN1	BRCA2	ACSL4	P4HA2	CFHR5	PKD1	C3	BCOR	IL17RC	SDHA	TBL1XR1	ALG9	CLDN19	REST	ITGB4	DLST	SDHAF2
HP_MULTIPLE_BLADDER_DIVERTICULA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_BLADDER_DIVERTICULA	FBLN5	SMARCA2	LTBP4	LTBP1	EFEMP2
HP_CHRONIC_KIDNEY_DISEASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_KIDNEY_DISEASE	CEP290	SH2B1	TP53RK	NPHP4	LMX1B	IFT122	ACP5	GCDH	POLRMT	ANLN	PKD2	KYNU	ZNF699	MYOCD	CC2D2A	CLDN16	ZMPSTE24	TMEM67	GATM	SLC41A1	TBC1D8B	APOL1	IFT140	GLIS2	DZIP1L	CLCNKA	CTNS	NUP85	PBX1	NPHP3	BBIP1	AVIL	NPHS2	ARHGDIA	PUS3	TRAF3IP1	TMEM231	PTPRO	NUP133	WT1	SLC22A12	SLC34A1	XPNPEP3	IFNG	JAG1	CRB2	NEK8	CLCN5	RPGRIP1L	NUP37	SOX18	MYO1E	GON7	EMP2	LAMA5	COL7A1	GAPVD1	SPRY2	MAGI2	COL4A3	INF2	MAFB	ANKFY1	MEFV	NUP205	SARS2	B2M	NPHS1	REN	IFT43	RNU7-1	LAGE3	CLCNKB	DNAJB11	PAX2	PYGM	FN1	NUP107	IFT172	CD81	SMARCAL1	SLC37A4	ACTN4	TRPC6	COQ6	YRDC	SLC30A9	ANKS6	SAA1	COL4A5	CEP164	TPRKB	CFHR5	NPHP1	PKD1	MMUT	GSN	DGKE	NUP160	WDR19	NOD2	CLDN19	ALMS1	SLC2A9	DCDC2	NOS1AP	IQCB1	SGPL1	OSGEP	SRCAP	PRKCD	MAPKBP1	PRPS1	CPT2	GANAB	FLT1	NUP93	RAD51C	PLCE1	NDUFAF6	RRM2B	CD151	COQ8B	TTC21B	COL4A6	APRT	LAMB2	SEC61A1	TSC1	PPOX	GATA3	ALG5	PKDCC	OCRL	LDHA	COL4A4	ALDOB	CORIN	PIGA	MMP1	BSND	NTRK1	TTC26	TSC2	SDCCAG8	LZTFL1	STOX1	AGXT	CD2AP	SLC7A7	AHI1	CFH	DSTYK	MUC1	BICC1	CEP83	EHHADH	INVS	FAN1	HNF1B	PKHD1	TMEM126B	C3	BNC2	ALG9	EIF2AK3	ARHGAP24	CHRNA3	DAAM2
HP_ABNORMAL_INTRAOCULAR_PRESSURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_INTRAOCULAR_PRESSURE	COL2A1	GNA11	CYP1B1	ZEB1	BAP1	C1QTNF5	ASPH	SLC39A14	ADAMTS17	FN1	GNAQ	HLA-A	PRSS56	LOXL1	LTBP2	CHST14	EFEMP1	NFIA	HMX1	LMX1B	MYOC	COL18A1	SF3B1	VSX1	TEK	OVOL2	CYSLTR2	ASB10	PXDN	DSE	PITX3	GRHL2	FOXE3	COL8A2
HP_RETINAL_VEIN_OCCLUSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_VEIN_OCCLUSION	SERPINC1	F12	EFEMP1	CYP1B1	MYOC	LOXL1
HP_ABNORMAL_INFLAMMATORY_RESPONSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_INFLAMMATORY_RESPONSE	MT-ND4	SPINK1	MGP	ARSB	CTNNB1	LMX1B	VPS37D	IL11RA	B2M	PI4KA	GJB2	PLCH1	TGM1	ARHGAP29	UBA1	ZNF699	RNASEH2C	KCNJ6	SMARCB1	ADAR	DNASE1	POMP	FCHO1	SIX3	GAS8	H6PD	SETD2	DNMT1	RASGRP1	GP1BB	GNAS	ASAH1	IL1RN	SGCG	RAC2	GUCY2C	KRT1	ITGA6	DLL1	RFXANK	UNC119	ARID1B	FCGR3B	NLRP3	RNASEH2B	DNAH1	MAGT1	POLR3A	H3-3B	LMNB1	BCKDHA	LRBA	PRTN3	LYZ	CFAP410	USP8	CSTA	COL4A3	NFKB2	PRG4	ERCC8	HPS1	PGM3	MYL2	NLRP12	EDARADD	FKBP6	FLII	FOXN1	VPS33B	GINS1	FLI1	FOXP1	IL12RB1	IGBP1	MSMO1	PAX2	MCIDAS	BAP1	OTULIN	ATN1	NTRK1	SMARCAL1	GAS2L2	TP73	FGF8	ACP5	RAI1	SLC11A1	CDC73	LTBP3	GLI2	PLCD1	IL2RA	RSPH4A	USP48	DGKE	FLT4	IL12A-AS1	LIPN	CFAP298	GNA11	TOM1	TEK	IGKC	CFAP52	HLCS	MT-ND5	FGFR1	IKBKG	SDHA	TNFSF11	MSX1	ABCC9	KRT17	CSF2RA	NCF1	STXBP1	CLPB	RFX5	ZIC2	GJB3	KCTD1	NBN	HDAC4	HBB	DDB2	KMT2D	TAPBP	IL37	PKHD1	CAPN5	MYH11	ERCC2	SAMD9	SLC30A2	CFTR	UMOD	ABCA12	FCN3	DNAAF1	TMC8	SP110	SELENON	TBX1	PLXND1	KIRREL1	SLC7A7	TNFRSF11A	KIT	NCKAP1L	DNAJB11	FGFR2	BTNL2	NOTCH2	PRKCD	SPINK5	HLA-B	PRSS1	EIF4H	SHANK3	WAS	CD28	CFB	RET	COL7A1	MT-TF	NXN	ITGA7	AIRE	CARD10	SOX11	CD2AP	ANK1	HLA-DRB1	SRCAP	JAK1	CTSB	XPC	TRAPPC11	APOE	NUMA1	STUB1	PEPD	DISP1	CCDC39	ASPRV1	GPIHBP1	IL6	P4HTM	FCGR2B	CBS	LACC1	TRPM4	HMOX1	GLRB	STIL	GATA2	IL10	SCNN1G	NF1	CCDC103	TGFB1	KMT5B	MAP3K7	F13B	MVK	C1S	METTL27	TKFC	ITGB2	FGF3	DCLRE1C	CEBPE	CLEC7A	LMNA	TONSL	CCDC47	H4C3	PRDM12	STAT5B	TNFRSF13B	EDA	ARHGDIA	TNFRSF1A	IL36RN	UROS	ERCC4	GLIS3	CPLX1	FOXC2	NME8	SPTLC2	TPP2	PMM2	FGFR3	SLC4A1	PRKAR1A	CRB2	AP1S3	NUP37	SOX18	XIAP	GPR35	TKT	MYSM1	LAT	EFEMP2	DNAH11	ICOS	ANKFY1	IFNGR1	HYDIN	NCF2	PPARG	RAC1	SPP1	PTPN22	COG6	CIITA	BRCA1	TMCO1	CLN3	SMARCC2	CD247	CYP7B1	DNAAF2	MED12	SDHC	SMG8	NECTIN1	MLXIPL	RARA	RNU4ATAC	TAOK1	IL17F	KRT5	TG	DNAAF5	PIGN	GLRA2	CR2	GBA1	LPIN2	WDR19	PSMB10	PIK3CA	ERCC3	TTC7A	CD55	ADAM17	CTRC	RNASEH2A	LAMB3	NABP1	HLA-DQB1	PRMT7	KPTN	HIRA	GLRA1	MT-CO1	AEBP1	IL10RA	C4A	ADAT3	LMBRD1	EGFR	SKIC2	IL23R	RAG2	ARVCF	NSMCE2	CIDEC	NIPAL4	EMP2	COL4A6	HOXA13	KRT10	CARS1	NFIX	BIRC3	NUP107	RSPH1	AP2S1	SRP54	CYSLTR2	TYMS	DOCK8	DNAH9	GNPTAB	SDHB	SH3PXD2B	RNF113A	TDGF1	TAP1	DNAAF11	CD27	TPM3	ESR1	UBE2A	MMP1	NSD1	MMEL1	IL17RC	RNF168	CARD14	SCNN1A	STAT3	MEFV	FERMT1	SASH3	PIGA	DEF6	ACADVL	CBL	DPF2	ADA2	SAMHD1	ARPC1B	RNF2	DNAAF3	POLG	GALNS	CXCR4	CD3G	IGLL1	TK2	PTCH1	CHST14	DLX4	LRIF1	HLA-C	IGF2R	TBL1XR1	CTBP1	IRF8	ODAD1	COL5A1	GUSB	MDM4	EXTL3	IRF2BP2	WIPF1	C2orf69	DEAF1	EPHB4	JAK2	ALOX12B	IPO8	IDH1	PLOD1	MTM1	DRC1	IFT140	IL7R	CFAP300	C4B	PLG	SLC25A15	TRIM8	TBC1D2B	RAG1	BTK	MT-TL1	FAM111B	CCDC65	TGDS	GJA1	RREB1	PARN	WT1	TCIRG1	CLCN7	TAF1	FCGR2A	SH3KBP1	FOXH1	CALR	TP63	EDAR	SOCS1	HSPA9	NSUN2	MAGI2	CYBC1	TRAF3IP2	PDGFRA	NUP205	TGFB2	KNSTRN	APC	FNIP1	CDH1	IKZF1	CPA1	TPM2	CTSC	GJC2	FANCF	CAPN3	NPM1	MBL2	TRPC6	SLC2A10	CDH23	MT-TS2	SLC37A4	FCGR3A	PRKDC	CD3D	BCOR	LEP	PTEN	ERCC6	NEK10	MID1	MT-TQ	ROR2	RANBP2	IL6R	ATAD1	SLC6A19	POU2AF1	ATL3	F5	CIC	SPTBN1	UBB	STXBP2	IL21R	DDX41	PRF1	LYST	NDUFS3	MORC2	SKIC3	RTTN	CDC45	WRAP53	PDE8B	SLC6A5	ARHGEF2	FGA	OFD1	ATP6V0A1	MS4A2	COQ8B	MPLKIP	IRGM	NOD2	SLC35C1	LPIN1	PNPLA2	PIGY	KANK2	TCF4	LBR	ITK	BLM	NCSTN	DNAI2	PAX1	AFF4	ELN	IGSF3	ANKRD11	HLA-DQA1	AMACR	IL18BP	TTC12	KDM6A	IRAK1	ATRX	IFNG	ALDH3A2	SMAD3	DNAI1	SNX10	PKP1	CRLF1	NAA10	CLDN1	MET	G6PC1	MPV17	RNF125	ATP7B	TLK2	OCRL	PTCD3	SMARCA2	NDUFA6	BTD	MMUT	GPR101	P4HA2	SRSF2	STX1A	MPDU1	PLA2G6	LIG1	DLG1	PNP	IL2RG	C5	DNAH5	PRSS2	IARS1	IL4R	TFRC	NFKB1	CTLA4	TNFRSF13C	PKD2	HNRNPA2B1	COL5A2	RPGR	MBTPS2	RELB	PANK2	RFXAP	ALDH18A1	HPGD	CCBE1	DIP2B	FOXD3	SEC23B	CASR	TNRC6B	FAT4	FBLN5	SLC9A3	ODAD4	TBC1D8B	TNFRSF1B	SLCO2A1	IL21	TREX1	MYH9	TP53	STX16	GFI1	SPTB	DNASE1L3	NHP2	TAP2	RBP4	NOP10	SDCCAG8	PSMB9	EBP	IRF6	TBX20	TINF2	MYD88	CLTRN	RTEL1	CD3E	MMACHC	MEIS2	SHH	TLL1	ERCC5	GAPVD1	LETM1	PLCG2	HLA-A	DHCR7	PSMB8	SYK	PNPLA1	TBCD	ABCB4	PIK3CD	GLB1	DCTN4	COG8	NADK2	FLVCR1	PTPN2	CYP4F22	SLC25A13	STAT1	RSPH9	GTF2I	DOLK	SLC25A12	CFHR5	CD79B	XYLT1	TGM5	ELANE	ZMYND10	PIK3CG	COL4A5	ALMS1	NCF4	PAX6	CDC42BPB	A2ML1	NOTCH2NLC	FAS	POLE	ELF4	CAV1	CDON	IFT172	PLEC	IL7	CCDC40	AK2	TBX19	ATP8B1	STAT4	XPA	NEK9	IVNS1ABP	KRT18	TARS1	CD151	INAVA	GIPC1	PDHA1	ITCH	LIG4	NLRP1	ZBTB7A	CIB1	GATA1	MTAP	UNG	TRAF6	FECH	LRRC8A	OSTM1	GJB6	FBN1	ARID2	LDHA	MEN1	LAMC2	C3	HBA1	DNAJC21	GTF2IRD2	LIMK1	IFIH1	PSTPIP1	WNT4	PSEN1	MIF	MS4A1	IGHG2	TMEM270	LPL	RUNX1	KANSL1	SEMA4D	FUZ	BICC1	BCL10	TNFSF12	SIN3A	PIEZO1	SFTPC	NUP160	RTL1	UBAC2	ZAP70	C1QB	HEPHL1	SERPINA1	ALG9	CD79A	EP300	FOXP3	TFG	F13A1	C1R	TGIF1	LTBP4	AR	PURA	RSPH3	NODAL	TERT	ADAMTS3	RMRP	ASXL1	NSD2	EPM2A	SPTLC1	WDR26	COL17A1	ZEB2	APOA1	CARD8	XPNPEP3	VPS33A	HAVCR2	DSE	BLOC1S6	MYO1E	CSF2RB	KRT74	VIPAS39	ABCC6	PIK3R1	CFAP221	FGF10	RIN2	IL6ST	SCNN1B	NPHS1	ACTC1	SULT2B1	RNU7-1	CSPP1	ARID1A	REL	POFUT1	EDNRA	ACTN4	SLC35A1	IL12A	DCDC2	PKD1	ANO5	USB1	OPLAH	CD19	SPI1	SDR9C7	GATA4	B3GALT6	CAVIN1	CERS3	MAN2B1	JAK3	SRY	RAD21	CASP10	GATA6	CARD11	NGF	TLR7	MAF	PTPRC	ZBTB24	ADA	IL12B	MLX	SF3B1	COL3A1	MYO1H	NUP93	GRB10	MEG3	SLC26A9	MPEG1	LSM11	TLR8	GATA3	IGHM	CCT5	CARD9	HBA2	BAZ1B	ZNF341	LMF1	SEC24C	WDR1	PRKACA	DBT	IL17RA	NLRC4	JAGN1	SH2D1A	FLNA	EFL1	FERMT3	KLRC4	PSPH	ALOXE3	TCF3	LRRC32	CCNO	FBXW7	TGFBR2	MSN	ANKRD55	ATP7A	SLC12A3	BRD4	UNC13D	NR3C1	HYAL1	DNAJB13	PAH	SLC39A4	ANLN	ATOH7	LSS	GRHL3	MALT1	TIMM8A	HYOU1	SREBF1	SPTA1	MT-TH	CLCA4	IL2RB	PLEKHM1	EPB42	NPHS2	COL11A2	FLG	G6PC3	BCKDHB	RAB7A	PTPRO	SHOC2	POLH	BCL11B	IRF4	FOXJ1	GCGR	GTF2H5	NME5	AP3B1	RETREG1	ODAD2	SDHD	ERAP1	STX11	BCL7B	HSD3B7	CREBBP	IDS	ZNF750	INF2	CYP11B1	MME	EN1	NKX2-5	SPEF2	FASLG	TGFB3	IL10RB	ELOVL4	NHLRC1	PSENEN	DKC1	PIGG	MNS1	DSG1	GSN	TBC1D24	TBX2	DNAL1	AARS1	B4GALT1	BLNK	RYR1	PERCC1	SLC29A3	NBEA	SETBP1	SOX4	SBDS	CYBB	FOCAD	IKBKB	BRAF	BUD23	NFS1	SNAP29	CST6	SLC25A24	LONP1	MIA3	CDSN	COL4A4	KDF1	AGPAT2	GAS1	PDE11A	SMARCD2	ZNFX1	DNASE2	WDR35	CD81	FMR1	DDR2	CD40LG	COL11A1	LAMA3	JMJD1C	AKR1D1	COPA	ORC6	NUP133	MT-CO3	TBCK	ATL1	MT-ND1	AKT1	IARS2	AASS	POLA1	FIP1L1	DLK1	CITED2	RIT1	DOCK2	LEMD3	TLR4	STK36	LRRC56	ENPP1	NSMCE3	DZIP1L	SHPK	MNX1	SPIB	IRF9	LGI3	SMARCA4	CD4	HMGCL	KAT6A	IKZF3	SUOX	COX4I2	MASP2	SMC1A	DNMT3B	EPCAM	ODAD3	CEACAM6	PHIP	PCCB	SPAG1	SLURP1	PCYT1A	PSMD12	ORAI1	GCLC	HLA-DPB1	SRD5A3	AGA	KIF11	KIAA0586	CTC1	GTF2E2	LAGE3	APC2	MT-ND6	BMP4	HFE	PCCA	AP1B1	LCK	RUNX2	MTTP	ATP6V1B2	SLC27A4	CLIP2	HACD1	FIG4	XDH	ZEB1	SMARCD1	PML	ACTA1	IDUA	ERF	PRKAR1B	UROD	POGLUT1	CARMIL2	GNB2	ADAMTS2	CASP8	CFI	KCNN4	ALG12	DNAAF6	ABCB1	CLCNKB	CDK10	REV3L	DDB1	MRTFA	SLC39A7	SLC6A14	COMT	LCP2	BPTF	C1QC	SCN9A	RIPK1	ATM	GNAQ	ERCC1	CAT	ST14	COL2A1	SMARCE1	ARMC5	UQCRH	HLA-DPA1	PDGFRL	RHOH	CEACAM3	TBX4	BNC2	MTHFD1	KRT14	TGFBR1	TERC	DCLRE1B	PHGDH	MAP3K20	C1QA	DNAAF4	MCCC2	LTBP1	ECM1	HDAC8	ZFAT	SIK3	AIP	CFAP45	GTF2IRD1	PAPSS2	GNS	CYBA	CHD7	APOC2	BCS1L	CACNA1C	MAPK1	NFE2L2	RPL11	MYCN	NOS1	TMC6	STING1	LAMA2	IQSEC2	APOL1	ABCA3	BACH2	CDKN1B	HGD	RFC2	RBCK1	TBL2	RRAS2	LHCGR	TNPO3	TFE3	SIAH1	PSMG2	TNFSF15	NELFA	EPG5	SMARCAD1	PRORP	ITGB4	STAT2	CYP7A1	AUTS2	DNAJC30	NIPBL	SMG9	LMNB2	ZBTB16	BSCL2	H4C5	TNFAIP3	STAG2	FMO3	ACTG2	GANAB	RBM8A	PLCE1	GJB4	CACNA1G	ANAPC1	ADAMTSL2	SMC3	KIF12	KIF15	TET2	IRF5	ALG5	PLA2G7	GSTM3	MST1	CAMK2B	GORAB	MYH6	NUP85	CCR1	KYNU	MT-CO2	NKX2-1	PSMB4	KDSR	AXIN1	MAB21L1	PGM1	MED25	GPHN	SFTPB	CLTCL1	MT-TW	NAXD	UFD1	ARHGAP24	PAFAH1B1	DAAM2
HP_PERISYLVIAN_POLYMICROGYRIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERISYLVIAN_POLYMICROGYRIA	ATP1A2	MAGEL2	FGF8	SRPX2	ADGRG1	DLL1	SNRPN	TBC1D20	MTOR	TUBB2B	FOXH1	RAB3GAP1	MICU1	ATP1A3	SIX3	PTCH1	OCA2	SHMT2	PI4KA	GLI2	NDN	TDGF1	NODAL	TUBA1A	STIL	ZIC2	MAPK8IP3	CDON	TGIF1	DISP1	GAS1	SHH
HP_ABNORMAL_BRAIN_POSITRON_EMISSION_TOMOGRAPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BRAIN_POSITRON_EMISSION_TOMOGRAPHY	C9orf72	MAPT	NF2	SMARCE1	PSEN2	BAP1	GRN	TMEM106B	COQ2	TREM2	CHMP2B	SMO	TRAF7	SQSTM1	SUFU	PIK3CA	TERT	SMARCB1	AKT1	VCP	PSEN1	PDGFB	APOE
HP_SEVERELY_REDUCED_LEFT_VENTRICULAR_EJECTION_FRACTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERELY_REDUCED_LEFT_VENTRICULAR_EJECTION_FRACTION	BAG5	PSEN1	LMOD2	MYH6	GTPBP3	DSG2	TNNI3
HP_ABULIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABULIA	C9orf72	TMEM106B	MAPT	PSEN1	NOTCH3	GRN	HTRA1	TREM2	SQSTM1	CHMP2B	VCP
HP_IRON_ACCUMULATION_IN_BRAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRON_ACCUMULATION_IN_BRAIN	WDR45	C19orf12	COASY	DLAT	PANK2	VPS41	FTL	PLA2G6	PIGA	FA2H	NUDT2	VPS13A	CP	CRAT	TBCE
HP_ABNORMALITY_OF_THE_PINEAL_GLAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PINEAL_GLAND	WDR26	KANSL1	GALNT2	NR1H4	VAX1	INSR	ABCB4	NONO	ATP8B1	PSMD12	PNPLA2	BPTF	ABCB11
HP_ABNORMAL_PINEAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PINEAL_MORPHOLOGY	WDR26	NONO	KANSL1	PSMD12	GALNT2	VAX1	PNPLA2	BPTF	INSR
HP_PINEAL_CYST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PINEAL_CYST	WDR26	NONO	KANSL1	PSMD12	GALNT2	PNPLA2	BPTF
HP_ABNORMAL_THALAMIC_SIZE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_THALAMIC_SIZE	POMT1	FKRP	SLC2A1	POMK	POMGNT1	GMPPB	EXOC7	GSX2	POMT2
HP_ABNORMAL_THALAMIC_MRI_SIGNAL_INTENSITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_THALAMIC_MRI_SIGNAL_INTENSITY	PTCD3	COX10	POLG	NF2	SMARCE1	BAP1	SMO	TRAF7	SUFU	GFAP	CLN8	PIK3CA	TERT	MFF	SMARCB1	FTL	AKT1	TWNK	TREM2	PDGFB	HEXB	CP	GTPBP3	MTRFR
HP_SMALL_BASAL_GANGLIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_BASAL_GANGLIA	NANS	MT-ATP6	NUP62	CYB5A	TUBB3	FDXR	TBCK	SLC19A3	HIBCH	VPS13A	CNTNAP1	CYB5R3	ADAR
HP_ABNORMAL_LARGE_INTESTINE_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LARGE_INTESTINE_PHYSIOLOGY	VANGL1	GPR35	FUZ	VCP	SEC24C	MST1	LMNB1	EIF2AK2	FA2H	UBAP1	BCR	DMPK	DSTYK	CRKL	SLC44A1	DAXX	GLA	ISL1	HIRA	TBCD	ARSA	TBX1	ATP13A2	RTN2	C19orf12	FMR1	ABCD1	PSAP	LRIG2	ZFYVE26	TP63	FLVCR1	SCN4A	SEMA4D	CFAP43	GP1BB	ARVCF	HTRA1	DDHD2	JMJD1C	ZEB2	PLP1	TCF4	RREB1	SALL1	NOP56	MAPK1	MAPK8IP3	ATRX	SLC9A6	COMT	DACT1	UFD1	HPSE2	KY
HP_ABNORMAL_SUBARACHNOID_SPACE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SUBARACHNOID_SPACE_MORPHOLOGY	KIFBP	TGFB3	MT-ND4	L1CAM	TSEN2	SYNGAP1	ITGB3	MT-ND5	LOX	GCDH	GAA	FOXE3	SNRPN	WARS2	AIFM1	SMAD3	ITGA2	MT-CO2	MYLK	DOCK8	PLPBP	DTYMK	TTC26	TGFBR1	MTRR	ALDH7A1	TSEN54	IDH1	PLCH1	MT-CO1	MFAP5	TGFB2	ATP11A	THSD1	ALG11	TGFBR3	MT-TF	TSEN15	NMNAT1	ANGPTL6	AHCY	ALG12	ACTA2	MYH11	HEY2	MT-ND6	SLC33A1	ACVRL1	ITGA2B	PRKG1	MT-TH	SMAD2	MT-TL1	MAN2C1	MAT2A	RASA1	ENG	GDF2	WAC	F10	FBN1	RNU4ATAC	COX16	ALG2	MT-TS2	NARS1	TSEN34	ALG9	SMAD4	MT-CO3	MRE11	CDH2	MPDU1	MT-TW	GRIN1	GP1BA	CD109	ELN	MT-TQ	SEPSECS	TGFBR2	COL3A1	DCC	GP1BB	MT-ND1
HP_WIDENED_SUBARACHNOID_SPACE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDENED_SUBARACHNOID_SPACE	KIFBP	MT-ND4	TSEN2	MT-ND6	SLC33A1	MT-ND5	MT-TH	MT-TL1	GCDH	SNRPN	WARS2	WAC	AIFM1	COX16	MT-CO2	ALG2	PLPBP	DTYMK	TTC26	MT-TS2	NARS1	MTRR	TSEN34	ALDH7A1	TSEN54	IDH1	ALG9	MT-CO3	MT-CO1	MPDU1	ATP11A	MT-TW	GRIN1	ALG11	MT-TF	TSEN15	NMNAT1	MT-TQ	AHCY	SEPSECS	ALG12	MT-ND1
HP_ABNORMAL_METABOLIC_BRAIN_IMAGING_BY_MRS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_METABOLIC_BRAIN_IMAGING_BY_MRS	MT-ND4	ASPA	MT-ND5	ECHS1	GATM	SLC6A8	NGLY1	POLRMT	CYP27A1	NAXE	HTRA2	MT-CO2	SQOR	SDHAF1	GALC	HSD17B10	HPDL	POLR3A	FBXO28	MT-CO1	SLC39A8	SLC35A2	NDUFAF6	TBCK	MT-TF	COG8	SUCLG1	VARS2	ATAD3A	MT-ND6	MRPS34	NDUFS2	CACNA1G	MT-TH	NDUFB7	MT-TL1	FOCAD	MECR	NDUFB8	LYRM4	SURF1	KARS1	COX16	SLC25A12	SCO2	GAMT	DNM1L	MT-TS2	NDUFAF3	PSAP	GRM7	ACAT1	FARS2	MT-CO3	CNP	MT-TW	ADORA2A	LYRM7	MT-TQ	MTRFR	SDHD	SDHB	MT-ND1
HP_REDUCED_BRAIN_N_ACETYL_ASPARTATE_LEVEL_BY_MRS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_BRAIN_N_ACETYL_ASPARTATE_LEVEL_BY_MRS	GALC	PSAP	GRM7	CACNA1G	FBXO28	NDUFB7	CNP	NGLY1	TBCK	SDHD	SLC25A12	SDHAF1	ATAD3A
HP_MILD_HEARING_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MILD_HEARING_IMPAIRMENT	MED12	CTSK	DPH1	COL1A2	PGM3	MFN2
HP_SEVERE_HEARING_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_HEARING_IMPAIRMENT	CHSY1	ALMS1	TRIOBP	GPSM2	RAF1	TK2	VSX1	PTPN11	GJB2	ATP6V1B2	BRAF	GJB6	COL1A2
HP_PROFOUND_HEARING_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROFOUND_HEARING_IMPAIRMENT	MYO15A	SLITRK6	SLC12A2	KCNQ1	FGF3	YARS1	EPS8	PMP22	KCNE1	KARS1	CIB2	PRPS1	RDX
HP_FUNCTIONAL_ABNORMALITY_OF_THE_GASTROINTESTINAL_TRACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FUNCTIONAL_ABNORMALITY_OF_THE_GASTROINTESTINAL_TRACT	MT-ND4	ITGA2B	SPG7	VPS37D	BAP1	CTCF	PI4KA	PLCH1	BRCA1	ARHGAP29	NEFH	ZNF699	ITGA2	GABRA5	CHRNA1	SPG11	ALDH18A1	LMOD3	FCHO1	TP53	KLHL7	DGUOK	NDUFAF2	DPYSL5	SIX3	ACTG2	SYT14	RASGRP1	MSH2	GP1BB	GNAS	CDK4	ASAH1	GUCY2C	IARS2	DLL1	RFXANK	FGG	ENG	NRCAM	TOP3A	STAG1	SATB2	H3-3B	CARS2	LBR	LRBA	NOTCH1	GBA1	COQ2	PRTN3	PIGN	MECR	WARS2	YWHAG	NFKB2	ERCC8	HPS1	APC	MYL2	FKBP6	FLII	MGME1	NCAPG2	JAK2	MT-ND6	IL12RB1	KMT2A	CHRNE	MT-ATP6	PYGM	UBA5	KLHL41	ATN1	ANXA11	DDHD2	CHD7	FGF8	SOX5	CYP7B1	RAI1	SLC11A1	WAC	CDC73	GNB1	SMC1A	GLI2	NOP56	ARF1	GABRA2	ATRX	IL12A-AS1	EXT2	ABCA3	TEK	REPS1	SLC1A3	SOX10	PCGF2	MT-ND5	FGFR1	SLC25A4	TANGO2	SDHA	CAMTA1	NGLY1	FAH	GABRD	VAMP1	STXBP1	MAPT	CLPB	RFX5	PLA2G6	ZIC2	TOR1A	SCN3A	NBN	MEIS2	CHAMP1	KRAS	DNAJC13	FOXG1	IL37	ATP1A3	SYT1	MUC5B	MYH11	SAMD9	TCF4	FARSB	TSEN2	ALS2	CFTR	SMAD4	SLC9A6	SLC25A1	ATP11A	CACNA1G	AOPEP	TREX1	RYR1	SURF1	CISD2	FCN3	APOE	SRCAP	SP110	SELENON	TBX1	ATXN1	PLXND1	SDHC	ALDH4A1	HCN1	SQSTM1	ASXL1	KIT	CCDC22	PRKCD	PIEZO2	MYH2	HLA-B	SLC19A3	EIF4H	SHANK3	CPOX	GCH1	RET	COL7A1	CAV1	DYRK1A	PTS	MT-TF	ITGA7	CARD10	BRAF	COQ4	KCNH1	SDHD	JAK1	ARV1	SPART	KIF5A	MAGEL2	TRAPPC11	STUB1	FZR1	SYNJ1	PNKD	PARN	DISP1	GRM1	IDH2	GPIHBP1	XRCC1	IFNGR1	IL6	UBE3A	PPM1D	CPSF3	GDAP2	GLRB	STIL	HPDL	SCN8A	SACS	IL10	MEGF10	CACNA1A	PRDX3	TGFB1	NECAP1	STN1	RACGAP1	MYMK	MAP3K7	F13B	MVK	CTBP1	METTL27	CNTNAP1	SYNGAP1	SATB1	TUBB6	GLA	STK11	CCDC47	TNFRSF1A	GLUD2	FGF12	PEX1	SLC5A7	ERBB2	GRIN2D	ACVRL1	CHMP1A	PDE8B	XIAP	GPR35	GON7	NCF1	GDNF	MLH1	SLC52A3	ABCD1	NF1	WFS1	CDKN2A	SLC6A9	RERE	ADD3	FUS	TRAPPC6B	ACTB	ARCN1	CIITA	LMAN1	RABL3	CLN3	HRAS	RAD21	DNAJB6	HDAC8	SDHB	MED12	MLXIPL	TAOK1	POLG	SKI	NUP62	HNRNPK	SH2B1	KCNA2	HMBS	CD55	ADAM17	SNCA	LAMB3	DMPK	ERLIN2	HLA-DQB1	CEP85L	COLQ	SLC18A3	HIRA	ZFYVE26	GLRA1	CHRND	WAS	DDOST	MT-CO1	ADCY6	IL10RA	TSC1	CACNA1C	C4A	SLC1A4	TARDBP	FLT1	SKIC2	IL23R	MED17	ARVCF	CLCN4	ALG2	PALLD	GNB5	FGFR2	COL4A6	RRM2B	EPCAM	CTC1	WWOX	NEXMIF	SRP54	CDC6	FLNA	KMT2B	HMOX1	KCNB1	MYL9	GUCY1A1	TDGF1	KATNB1	LAMB2	LIFR	TPM3	MMP1	NSD1	MMEL1	TBK1	UBE4B	STAT3	MEFV	FERMT1	MT-TW	TYMP	PRPH	NODAL	DEF6	HTRA1	ACADVL	CBL	MATR3	ARPC1B	MFF	CYFIP2	RNASEH1	CD3G	TK2	PTCH1	JAG1	ELP1	DLX4	CTHRC1	UNC45B	FGB	SEPSECS	NDUFA9	WIPF1	KAT6B	HLA-DRB1	HTT	ARSL	DEAF1	DNM1	ACTA1	CASZ1	FBN1	CACNA2D1	IPO8	TRMT10C	F8	IL7R	MECP2	CTNS	GLB1	SLC12A2	MT-TL1	ARFGEF2	FCGR2C	SEMA3D	LMOD1	ATP13A2	RECQL4	RREB1	TCIRG1	ACTL6B	PANK2	TAF1	LRRK2	TYMS	GRIN1	ATP7A	FCGR2A	MED12L	SH3KBP1	KBTBD13	GFPT1	USP9X	FOXH1	CALR	TP63	SLC6A8	LMNB1	DST	MDM2	YY1	GFAP	AGO2	PDGFRA	TRAPPC12	PRDM16	TGFB2	KNSTRN	FA2H	FNIP1	CDH1	IKZF1	TPM2	TBCE	SERPINE1	TUBB4A	KAT6A	POLR3A	LRPPRC	MYPN	SLC2A10	MT-TS2	SLC37A4	PLP1	MID1	MT-TQ	ATAD1	POU2AF1	ATL3	NPHS1	AICDA	F5	UBB	SLC38A3	COL13A1	ADH1C	STXBP2	IL21R	SPTBN4	PRF1	PRUNE1	BRCA2	NDUFS3	SKIC3	EDNRB	CCR6	SLC6A5	ABCC6	GMNN	EDN3	CRYAB	ATP6V0A1	MYC	CHAT	HEXB	COG4	IRGM	ARHGAP31	LIG3	TSPYL1	PIGY	GIGYF2	MSH6	NDUFAF3	PTPN22	MT-TV	CDK13	AARS1	FGFR3	MMP23B	PPOX	TRAK1	TGIF1	BLM	ATP1A2	AFF4	ELN	ANKRD11	AMACR	MPI	EP300	NEB	NOD2	MYOT	MCEE	SMAD3	PIGT	CRLF1	NAA10	ERBB3	BMPR1A	SEMA4A	TGM6	RNF125	ERMARD	OCRL	PLVAP	MEN1	NDUFA6	YARS2	TNFRSF13B	B4GALNT1	CELF2	SIGMAR1	P4HA2	ACOX1	SRSF2	STX1A	ERCC2	DLG1	EIF5A	ADAT3	TREM2	IARS1	GLYCTK	AFF3	PDGFRB	HIVEP2	SLC44A1	RNF170	RFXAP	SLC9A3	SPEN	TRIP4	MT-TT	KLHL40	IL21	HPRT1	SMG9	KCNC3	AP3B2	CNKSR2	GFI1	SCN4A	HPGD	FAN1	MINPP1	PRKCG	DKK1	KCNQ2	IRF6	VPS13A	XYLT2	SNCAIP	PLOD1	MRPS28	TECPR2	RARS2	SEC31A	SHH	SPG21	GRIA1	GABBR2	UBTF	PLCG2	DHCR7	SYK	ZC4H2	SERPING1	TBCD	LUZP1	PIK3CD	NEU1	ATG7	DDC	KIF23	DCTN4	PIK3CA	NEUROD2	FLVCR1	NFIX	GTF2I	TERT	HMGA2	PLAA	ZMYM2	MYO9A	GP1BA	SEC23A	VAC14	ATXN8OS	ELANE	PIK3CG	ALMS1	NCF4	MT-ND2	ADGRG1	NEDD4L	TBP	COL5A2	NOTCH2NLC	HTRA2	FAS	ELF4	CACNA1I	CDON	NEFL	PIK3R5	TSEN15	LMX1B	DALRD3	SREBF1	SUCLG1	IVNS1ABP	LRP5	MAN2C1	IRF2BPL	FLAD1	INAVA	GIPC1	PDHA1	ZBTB7A	MSX1	ATXN7	FGA	EGFR	USP7	GABRG2	AFG3L2	HNRNPH2	MTRFR	ARX	NDUFS1	LAMC2	NPC1	HSD3B7	GTF2IRD2	NRXN1	POLR3B	LIMK1	MSL3	PSTPIP1	TOM1	TMEM270	RUNX1	MRPS34	SEMA4D	KCNK9	FUZ	NUTM2B-AS1	SCN9A	SIN3A	DCX	POLG2	PRKRA	UBAC2	ZAP70	EWSR1	GREM1	VPS11	FOXP3	AMPD2	PMS1	CHCHD10	TFG	F13A1	SEMA3E	ASCL1	EEF1A2	CDKL5	LRP12	SERPINA1	ECE1	LTBP4	MT-ND1	OPA1	SETD2	EHMT1	CAMK2A	CDKN1B	IFIH1	NPC2	EDEM3	AAAS	MYH8	NTRK2	PUS3	ZEB2	DOCK6	ATP7B	KCNQ3	CARD8	SPOP	PMP22	GP9	HOXB1	ZBTB18	CREBBP	SLC25A13	VWF	PIEZO1	GALC	FGF10	TSEN54	SCUBE3	MACF1	CLTC	B2M	LONP1	SOD1	C9orf72	GFI1B	DPH5	NECTIN1	CSPP1	REL	SPATA5	TRIO	EDNRA	EBF3	IL12A	PRDM13	COL4A5	SUPT16H	IDH1	OPLAH	PNP	SFTPA1	MIF	CAVIN1	MAP2K2	MAN2B1	JAK3	STAC3	VPS35	CASP10	RHBDF2	LETM1	NUP214	SRPX2	UBR7	IL12B	MLX	SALL1	MYO1H	NR4A2	BCL10	REEP1	MADD	FCSK	GRB10	RBPJ	F9	MPL	OPTN	SLC26A9	TWNK	FMR1	ATXN10	MAPK8IP3	COG7	BAZ1B	PKHD1	MRPS25	CCND1	F2	SLC35A2	SEC24C	SLC52A2	SON	PGM3	DAXX	NDE1	MSR1	DNM1L	SPTAN1	NLRC4	ATP6V1A	SLC13A5	DSP	KLRC4	PSPH	MYD88	IRF5	FBXW7	HNRNPH1	TGFBR2	SYT2	FLCN	GRM7	ASCC1	COL5A1	SMO	ARNT2	BRD4	UNC13D	HLA-DQA1	TYROBP	TERC	GCDH	CENPT	QDPR	COL3A1	GRHL3	STAT1	F11	TIMM8A	ERCC6	FGF13	TTBK2	MBD5	XYLT1	PSAP	STAT4	MT-TH	CLCA4	FAM13A	FGFRL1	DHDDS	CD3E	ADAR	IRF4	FBXO7	CLMP	FTL	AP3B1	SCARB2	EXOSC5	ERAP1	BCL7B	NRTN	SLC46A1	SETX	KY	IDS	CTNNB1	RPL10	PFN1	PPP3CA	ATXN2	FASLG	PORCN	TGFB3	IL10RB	PAX7	GABRB2	LYRM4	COL1A1	KIF1A	TTC7A	BICRA	HEPACAM	CDKN2C	HGSNAT	TBC1D24	RARS1	PALB2	DTYMK	RILPL1	HSD17B10	MPZ	VPS33A	DYSF	PRKCZ	SETBP1	ANO1	VRK1	NSRP1	DCTN1	H3-3A	POR	WASHC5	PUF60	ORC1	SLC35C1	AGGF1	BUD23	STX11	RPS20	SNAP25	MT-TK	PYROXD1	CD109	SLC25A24	RELN	CTLA4	TNXB	CORIN	ITGB3	NOTCH3	PMS2	WT1	PIGA	GAS1	TTC26	PYCR1	DNASE2	PEX16	MLH3	MT-ND3	SSR4	SEC63	ORC4	LAMA3	JMJD1C	LMNA	RNU4ATAC	ORC6	MAP2K1	CLN8	ANAPC1	DDIT3	ZSWIM6	MT-CO3	NONO	UBQLN2	CHRNA3	ATL1	EOGT	NACC1	AASS	ABCD4	POLA1	FBXL4	TET2	KCND3	TMTC3	DOCK8	CDK19	DOCK2	TLR4	CYBC1	FBXO28	GNAO1	KIAA0319L	ENPP1	TSC2	DZIP1L	HSPG2	MNX1	SPIB	IRF9	TIMM22	NDUFB8	TBC1D23	CCN2	PDP1	MASP2	CEACAM6	PHIP	PHOX2B	HPCA	VCP	KMT2C	VAPB	PAK1	FIG4	SPTLC1	FRG1	GCLC	GMPPA	FARS2	NALCN	HLA-DPB1	SRD5A3	KIAA0586	ASXL3	CYP27A1	DPP9	PABPN1	NF2	RETREG1	APC2	ALDOB	BMP4	HFE	PDPN	SCO2	ATP6V1B2	CLIP2	HACD1	DAB1	GJB1	CPLX1	SLC25A22	GBA2	MCOLN1	ASPA	CARMIL2	GNB2	ADAMTS2	EPRS1	KCNN4	MYLK	NSD2	POGZ	F7	ALG12	ABCB1	PACS1	MYORG	PSEN1	REV3L	DDB1	MAP1B	TSEN34	MGAT2	UNC45A	SLC6A14	EIF4G1	COMT	SLC6A3	SFTPC	RIPK1	NTNG1	DCLRE1C	WDR26	NTRK1	OCA2	C19orf12	CBS	EXT1	CDKN1A	RLIM	GNAQ	ATXN3	MYH7	HLA-DPA1	SNRPB	CEACAM3	TBX4	AMER1	VARS1	CLCN1	TGFBR1	TXN2	DCLRE1B	PHGDH	PRPS1	MAP3K20	FXN	ITCH	RTEL1	SPTLC2	CACNA1B	MITF	PLEC	SLCO2A1	ECM1	DLL4	NDUFS2	APP	GDF2	GTF2IRD1	GNS	SMARCA2	TMEM94	CDKN2B	MAPK1	ACTA2	RPL11	NOS1	NFKBIA	NEK1	LAMA2	IQSEC2	BACH2	SZT2	SLC19A2	RFC2	RBCK1	PRNP	TBL2	GEMIN4	GRHL2	NEPRO	COL2A1	TNPO3	SIK1	KCNAB2	PARS2	SEMA3C	SIAH1	AR	TFAP2A	TNFSF15	EPG5	IL6ST	PRKCSH	EXOSC9	DNAJC30	NIPBL	STAG2	H4C5	TNFAIP3	SFTPA2	ADAMTSL2	SMC3	MCFD2	COG6	PTEN	PCNA	TWIST1	GSTM3	WNK1	MST1	CAMK2B	CCR1	AGRN	MT-CO2	POLR2A	CSF1R	SLC2A3	STOX1	F10	NUS1	SLC1A2	GPHN	ALG9	ADNP	UFD1	ARID2
HP_VENOUS_MALFORMATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENOUS_MALFORMATION	GLMN	ALX4	RASA1	PIK3CA	AKT1	TEK	CCM2	MSX2	PDCD10	KRIT1
HP_HEART_BLOCK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEART_BLOCK	TRPM4	PHYH	CDH2	TBX20	MT-TL1	GJA1	LMNA	GATA6	KCNJ5	KCNK3	PKP2	MYH7	TMEM43	MYOZ2	CALM1	CITED2	JUP	DES	PEX7	TNNC1	DMPK	CPT2	CDC45	DSG2	PLEC	AKAP9	LDB3	MYPN	DYSF	DTNA	GRIN1	EMD	PSEN1	SYNE2	SLC25A20	GNB2	SCN2B	HCN4	DOHH	TTN	CTNNA3	GLA	SEMA3A	FHL1	SCN5A	PSEN2	SCN1B	KCNJ18	CACNA1S	SCN3B	TBX5	CNBP	ATP6V1E1	GYG1	GNB5	GPC3	HLA-DRB1	KCNQ1	NPPA	GPX4	POMT2	MYL2	MT-ATP8	MYH6	MMP2	LEMD2	SLMAP	AGXT	SYNE1	ACADVL	ACTC1	CACNB2	KCNH2	EXOSC5	RMRP	SLC4A3	MYBPC3	BANF1	CASQ2	SCN10A	CALM2	RANGRF	CACNA1D	GJA5	TLL1	PRKAG2	GPC4	LRP1	GPD1L	TTR	RRM2B	MYL4	CACNA2D1	SCN4B	KCND3	FLNC	TNNI3K	PTPN11	KCNE5	DEF6	NKX2-5	BVES	ACTN2	KCNE3	BRAF	TNNT2	PIGU	LMOD2	SGO1	RAF1	PRKG2	MMP14	ATP6V1A	SCNN1A	RNASEH1	RYR2	ABCC9	KCNJ2	KCNJ8	CALM3	GNAI2	BTNL2	GATA4	MT-CYB	CACNA1C	GABRA3	PPP1CB	TRDN
HP_UPPER_EYELID_EDEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_EYELID_EDEMA	RIN2	DHX30	SLC29A3	FRMD4A	MED12L	KAT6A
HP_CUTANEOUS_SYNDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTANEOUS_SYNDACTYLY	PAX3	CREBBP	HOXD13	SVBP	GRIP1	TBC1D24	GJA1	FRAS1	GABRA3	LMBR1	RPL10	TP63	CAMTA1	EP300	LRP4	PIEZO2	DHCR7	MAP3K20	BCOR	ANKRD11	NECTIN1	GLI3	XYLT1	KCTD1	CTNND1	NOG	MEIS2	MCTP2	WDR19	PPP2R3C	DYRK1A	CACNA1C	LEMD3	FREM2	CDH1	FAT4	KIF7	NECTIN4	MEGF8	FGFR2	CHSY1	BLTP1	SLC39A8	MYH8	SCARF2	ORC1	CDH11	SMARCAD1	H4C9	IRF6	CCBE1	KAT6A	DCHS1	DEAF1	ATP6V1B2	FGF16	BHLHA9	PRKD1	CKAP2L	SETBP1	TMEM94	RBM10	FIG4	BICRA	CEP55	FGF9	MECP2	TRRAP	TWIST1	CHUK	ROR2	TWIST2
HP_EPISODIC_HYPOKALEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISODIC_HYPOKALEMIA	KCNJ18	CACNA1S	SCN4A	KCNE3	GABRA3	ATP1A1
HP_THORACIC_AORTIC_ANEURYSM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACIC_AORTIC_ANEURYSM	GATA5	DNAJC30	MYPN	SEMA3E	VPS37D	FOXE3	RERE	COL5A2	COL3A1	MYH11	PKD2	GABRD	FBN1	LMNA	MYLK	CASZ1	CHD7	IPO8	IL12B	TPM2	MLX	TGFB2	AEBP1	ERCC6	PRKCZ	SPEN	ACTA2	METTL27	GANAB	SKI	SMAD2	SPECC1L	HSPG2	ATP2B1	MAT2A	DNMT3A	SMAD6	CHST3	GTF2IRD1	MFAP5	HLA-B	ROBO4	ZMPSTE24	FBLN5	ENG	NKAP	BUD23	LOX	THSD1	MMP23B	NOTCH1	FBN2	SMAD4	ALG5	BAZ1B	AFF4	ELN	FLNA	TGFB3	BCL7B	NPR3	DNAJB11	SLC2A10	MLXIPL	SMAD3	ADAMTS19	GJA5	NCF1	UBE4B	EIF4H	BRF1	TGFBR1	B3GALT6	ERCC8	PRDM16	GTF2IRD2	LUZP1	LIMK1	PGM3	FKBP6	TGFBR3	ANGPTL6	GJA8	RFC2	MED12	TBL2	HEY2	CARS1	TMEM270	THSD4	FMR1	KCNH1	PRKG1	PDPN	BICC1	GTF2I	ATP6V1A	B3GAT3	KCNAB2	COL1A2	TGFBR2	COL1A1	IFT140	CLIP2	ALDH1A2	PIGN	COL5A1	PKD1	KANSL1	ALG9	TPM3	NKX2-5	MID1	NODAL	STX1A	PPP1CB
HP_ECTOPIC_ANTERIOR_PITUITARY_GLAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTOPIC_ANTERIOR_PITUITARY_GLAND	PROP1	POU1F1	LHX4	HESX1	GLI2	FOXA2	SOX3	OTX2
HP_ANORECTAL_ANOMALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANORECTAL_ANOMALY	PMS1	PIGN	FGF8	EXTL3	CHRM3	MKKS	DLL1	FANCB	VPS37D	SDHD	UBE2T	SMAD4	FGFR2	GPC4	SERPINA1	KYNU	LTBP4	CASZ1	MEOX1	DOCK2	PIGY	PITX2	CYBC1	DYNC2I1	TERT	WASHC5	NDUFB11	FRAS1	SALL4	WDR35	CTNND1	SEC23B	HSPG2	MNX1	MSH2	TCTN3	GLI3	GP1BB	DYNC2H1	ZIC3	LIG4	MED12	RREB1	PARN	IKZF3	NFKB1	RAD51	EPCAM	CEACAM6	FREM2	PALB2	FCGR2A	ENG	TWIST2	FERMT1	MLXIPL	BRCA2	KMT2C	MUTYH	CHN1	FREM1	HSPA9	GDF6	TBX3	UPB1	SMO	ISL1	PDGFRA	GCLC	TBX1	PRDM16	MKS1	LONP1	C2CD3	FKBP6	RAD51C	CTC1	RAC2	TP63	HFE	PDPN	POFUT1	MAD2L2	PIK3CA	ATN1	EDNRA	CHD7	NPM1	FANCA	PQBP1	PIGO	AR	SLC11A1	KIT	RECQL4	CLIP2	BRIP1	FOXF1	CD19	CEP120	RFWD3	MAFB	MIF	MID1	ROR2	GAS1	JAK3	HCCS	SDHA	SDHB	KIF7	GABRD	NCF1	POGLUT1	PTDSS1	CDC45	NBN	WRAP53	NAA10	POLR1D	TCOF1	INTU	KCNN4	KMT2D	SALL1	MYH11	BRCA1	CFTR	BMPR1A	INSR	CDH11	DDB1	DICER1	SLC26A9	WNT3	MSH6	NTHL1	PI4KA	B3GLCT	STIL	MMP23B	CDKN2A	SLC6A14	IGHM	TGIF1	COMT	POR	BAZ1B	ELN	CCDC22	DVL3	CDK8	FUZ	RIPK1	SEC24C	ATP2A2	FLI1	DCHS1	VANGL1	EIF4H	PKP1	COX7B	PTEN	FKTN	ERCC4	SEMA4A	NXN	RNF43	RFX6	TGFB1	DPYS	PRKAR1A	GLI2	THOC6	LARGE1	SNRPB	EHMT1	CEACAM3	COL5A1	CCNQ	ZIC2	STX1A	AMER1	PRKCD	DACT1	FANCC	SDHC	ESCO2	TERC	WNT7A	IRF2BP2	POLR1C	APC	RNU12	TNRC6B	SLC9A3	SPEN	KDM6A	PIGV	METTL27	CDH1	ITGB2	SKI	POLD1	CLCA4	COL7A1	NHP2	STK11	FAN1	SIX3	GTF2IRD1	G6PC3	NOP10	IFT80	RMRP	TINF2	CHD4	MAMLD1	FANCL	KRAS	CDON	ACADVL	RTEL1	MYCN	FAT4	BCL7B	FOXH1	MLH1	SPINT2	PTCH1	ICOS	SYK	BCOR	TDGF1	LUZP1	UBR1	SIN3A	NCF2	CD96	DCTN4	RFC2	ABL1	USB1	AXIN2	FANCD2	DDX6	TBL2	GATA1	POMT1	IL10RB	RRAS2	GTF2I	PSENEN	CYBA	DYNC2I2	FANCI	DKC1	TP53	KCNAB2	CCBE1	KRT5	COL1A1	TTC7A	CR2	GDF3	SUZ12	TNFRSF13B	XRCC2	SHH	DNAJC30	NSUN2	POLE	RERE	COL5A2	ADAM17	RIPK4	FKRP	USF3	PERCC1	ELF4	HIRA	CAPN15	IL10RA	MSH3	PRKCZ	SETBP1	CACNA1C	POMT2	FOXC1	CYBB	ARVCF	FANCF	MDM2	ELANE	POLR1B	BUD23	NFIX	RPS20	EGFR	PGAP2	SLC25A24	TYMS	TWIST1	HMOX1	DOCK8	GSTM3	TGFBR2	NFKB2	EMC1	GRIP1	PMS2	MMP1	FANCM	CHEK2	SLX4	UBE4B	TNFRSF13C	PIGW	GTF2IRD2	LIMK1	NODAL	USP9X	DEF6	PGAP3	PPP2R3C	DISP1	AKT1	MLH3	MS4A1	GPC3	CD81	TMEM270	TNFSF12	JMJD1C	PDE11A	CD3G	OTUD5	FANCE	LMNA	FANCG	KEAP1	KLLN	HOXD13	PORCN	RPS6KA3	GREM1	UFD1	RSPO2	PIGL
HP_MACULE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULE	RASA1	KITLG	TP53RK	FANCB	BLM	TSC1	SDHD	FANCA	UBE2T	COL3A1	NF1	DSTYK	PRKAR1A	CASZ1	HMGA2	FANCD2	IL6	TERT	PTPN11	KRAS	KIT	SPEN	GNAQ	MAX	KDM6A	CDKN1B	IGF2	MSH2	TSC2	COL17A1	CLCN7	SKI	HLA-DQB1	SEC23B	MLH1	SPECC1L	ADAR	HSPG2	STEAP3	MTOR	RET	FANCE	GNAS	NCF1	NHP2	STK11	MMP2	SPRED1	BUB1B	ERCC4	NOP10	PARN	SHOC2	PIK3CA	CYBA	CEP57	ERCC8	TINF2	IFNG	FANCC	FANCL	CYBB	LZTR1	KRT5	PHIP	MAP2K2	CDKN2B	RTEL1	MAPK1	PALB2	ERCC3	SNAI2	CREBBP	TMC6	BRCA2	HLA-B	TP63	TRIP13	TOP3A	CSTA	GJA1	CYBC1	SLX4	RERE	PRDM16	LUZP1	ABCB6	UBR1	IGF1	IKZF1	MAN1B1	RAD51C	BRIP1	APC	USB1	XPC	CTC1	PCNT	SKIC3	ZFHX4	PORCN	POFUT1	FANCF	PDPN	MAD2L2	KIF1B	RAF1	SMARCAL1	PSENEN	NPM1	FANCI	ACP5	KCNAB2	KRT14	EPHB4	PIGN	PTEN	CDKN2C	ERCC6	KDM6B	RFWD3	XRCC2	LMNA	ATP2A2	C1S	TGM5	PPP1CB	ATM	VHL	SVBP	KDM5C	GNA11	ESCO2	BUB3	ABCC9	SDHB	ELOVL4	DHX30	ST3GAL5	GABRD	POGLUT1	USF3	MED12	TWIST2	GJB3	GNB2	PRKCD	NBN	BRAF	WRAP53	PLAG1	H4C5	INSR	DDB2	IL7	PRKCZ	KMT2D	C1R	CWC27	XPA	ERCC2	BRCA1	SKIC2	CBL	GJB4	DKC1	ANAPC1	NRAS	REV3L	NCF2	CIB1	ZMPSTE24	TMC8	MMP23B	PLXND1	TYMS	ARL6IP6	SETBP1	ACTB	MAP2K1	AKT1	CDKN1C	MEN1	SH3PXD2B	EP300	WASF1	FANCM	KANSL1	UBE4B	SOX10	PMS2	KDSR	RBBP8	ERCC1	SET	GPNMB	ENPP1	TMEM127	CDKN1A	FANCG	COPB1	SMARCA2	HLA-DRB1	PDE11A	NONO	SMARCAD1	MSH6	TNFRSF1A	NF2	FGFR3	KLLN	SASH1	PLEC	RAD51	ERCC5	BUB1	COL25A1	SDHC	WBP11	NCF4	TERC
HP_KETOTIC_HYPOGLYCEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KETOTIC_HYPOGLYCEMIA	MC2R	ACAD8	GYS2	STAR	PHKB	NNT	MRAP	TXNRD2	SLC16A1	ACADS	HNF1A
HP_COUGH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COUGH	PML	DNASE1L3	ZMYND10	HLA-DQA1	TFG	CFAP52	IRF2BP2	DNAJB13	TERT	ATL3	BAP1	TERC	FIP1L1	LRRC56	SCNN1G	BLNK	RTEL1	PARN	CSF2RA	CCDC103	NABP1	SPTLC2	GAS8	HLA-DQB1	PANK2	ZBTB16	DNAAF4	TCF3	OFD1	RSPH3	SLC41A1	MPZ	DNAL1	CCDC40	STK36	TSC1	ODAD4	ODAD2	EIF2AK4	SFTPA2	TSC2	CFAP300	SERPINA1	MUC5B	DNAAF6	SFTPC	STAT5B	SLC11A1	FARSB	STN1	CYBB	CLEC7A	FAM13A	HLA-DRB1	ATP11A	FOCAD	CCDC65	IL2RG	DNAAF3	NPM1	STAT3	CCDC39	PRIM1	COL4A6	DNAAF1	ODAD3	SCNN1B	PTPN22	IRF4	CD79B	FOXJ1	SP110	NME8	SPTLC1	ABCA3	DNAH11	LRRC8A	SLC34A2	PRKAR1A	ODAD1	CTLA4	DNAI2	DNAH1	DNAH5	NOS1	SFTPA1	DNAH9	IGHM	SPAG1	WWOX	TTC12	BMPR2	CSF2RB	DNAAF11	HLA-B	GBA1	PRTN3	RNF6	RPGR	LPIN2	SCNN1A	DNAI1	DLEC1	TRAF3IP2	PIK3R1	CRLF1	CFAP221	RSPH4A	NEK10	IL17RA	HYDIN	HLA-DPB1	SPEF2	CFAP298	IKZF1	RSPH1	DSP	DPP9	CFTR	POMT1	RFC1	STAT1	MCIDAS	CCNO	RSPH9	TGFBR2	GAS2L2	DNAAF2	HLA-DPA1	FARSA	COPA	PMP22	RARA	IGLL1	MARS1	DNAAF5	IL17F	EPOR	NUMA1	COL4A5	ACAT1	P4HA2	NKX2-1	BCOR	IL17RC	DRC1	BTNL2	TBL1XR1	ATL1	MT-CYB	CD79A
HP_PROFOUND_GLOBAL_DEVELOPMENTAL_DELAY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROFOUND_GLOBAL_DEVELOPMENTAL_DELAY	PSAT1	PEX6	RARS2	KATNB1	WDR4	PEX19	GLYCTK	PEX14	OPA1	DST	PEX16	PEX11B	DENND5A	NDE1	FGF13	ATRX	PRPS1	NECAP1	GRIN1	PEX1	KCNQ2	SETBP1	CRIPT	PEX12	TBCK	ELOVL4	UNC80	PRUNE1	PIGU	PEX13	SLC12A2	PLEKHG2	ZNF526	GRIN2A	SLC39A8	AIMP2	PEX3	H4C3	PEX5	CACNA2D2	PEX10	LIAS	CCDC88A	LIPT2	WASHC4	ARX	MFF	FARS2	PTPN23	PEX26	ASNS	ADK	FDFT1	COG7	SLC9A6	PEX2	RELN	GUF1	PARS2	TELO2
HP_PAPILLOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAPILLOMA	NRAS	IGHM	TMC6	ERCC4	SDHD	SDHB	BLNK	TP53	STK4	SASH3	DCLRE1C	USF3	PTEN	PIK3R1	TCF3	CARMIL2	SEC23B	DDB2	IL7	MSH3	ATP2A2	ECM1	AKT1	XPC	XPA	ERCC2	PORCN	HRAS	IVNS1ABP	PIK3CA	CD4	GATA2	CXCR4	IGLL1	CIB1	FCN3	RHOH	TMC8	CD79B	FLT4	KLLN	TPP2	ERCC5	LRRC8A	ERCC3	SDHC	DOCK8	CD79A	IKBKG
HP_UNILATERAL_CRYPTORCHIDISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNILATERAL_CRYPTORCHIDISM	TSR2	KMT5B	ADARB1	MYRF	NFIB	NFIX	RNF135	IGF2	SIN3A	INSL3	XYLT2	DDX59	SRY
HP_ABDOMINAL_OBESITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABDOMINAL_OBESITY	TP53	MAGEL2	NPAP1	PRKAR1A	PDE11A	ARL6	ARMC5	CUL4B	SNORD115-1	BRAF	ATRX	PRKACA	ZPR1	MTTP	USP8	MKRN3	NR3C1	PWRN1	CDH23	NKAP	RNPC3	HERC2	BBS1	PDE8B	DYRK1B	GNAS	USP48	SNORD116-1	PWAR1	SIM1	AIP	BLM	LIPE	CCDC28B
HP_SHORT_PALPEBRAL_FISSURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_PALPEBRAL_FISSURE	SOX9	PRKAR1B	MYCN	EXOSC2	FANCB	UBE2T	ERMARD	UGDH	AFF3	LMNA	KCNJ5	MEG3	H4C5	FBXO28	SALL4	TXNL4A	SOX11	BRCA1	DLK1	MADD	STAC3	SMARCA2	SMOC1	DONSON	ORC1	DDB1	ALDH1A3	FANCF	WAC	ZMPSTE24	GJA1	TBX15	DCHS1	KIF15	BCL11B	CEP57	SMPD4	SETBP1	RBM10	CHD4	LARP7	PRMT7	TBX1	CDK13	HNRNPR	SNX14	SLC25A24	PIEZO2	COG7	KCNJ2	HNRNPH2	PALB2	ZBTB18	KRAS	RBPJ	CREBBP	POLA1	SLC2A10	MAPRE2	BRCA2	PPP1R12A	STT3A	GJA5	LIFR	CHN1	EP300	MOGS	FANCM	SLX4	KANSL1	B3GLCT	ALX4	HUWE1	ERCC4	FANCL	USP9X	SOX6	RTL1	RAD51C	FAT4	GJA8	FANCD2	KMT2A	POLR1A	KAT6B	SMAD4	MAD2L2	MUSK	SIN3A	FANCA	FANCI	AUTS2	MAGEL2	FANCE	PUF60	FANCG	BPTF	BRIP1	CLTCL1	THOC6	TUBB	RAD51	RFWD3	TMEM107	MAFB	XRCC2	NUAK2	FANCC	ZNF148	UBE3B
HP_ABNORMAL_BRAINSTEM_MRI_SIGNAL_INTENSITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BRAINSTEM_MRI_SIGNAL_INTENSITY	FOXRED1	TMEM126B	NDUFS6	NDUFAF3	NDUFB10	AIFM1	NDUFS4	NDUFAF2	NDUFS3	NDUFS7	NDUFV2	NDUFS2	SLC19A3	NDUFS8	LAMA2	NDUFAF8	NDUFAF5	NDUFB9	NDUFB11	NDUFV1	NDUFAF4	NDUFA11	CCM2	NDUFA6	NUBPL	PDCD10	NDUFAF1	MT-ND1	NDUFA1	MT-ND3	RANBP2	TIMMDC1	NDUFS1	MT-ND2	GTPBP3	NDUFB3	MTRFR	ETHE1	KRIT1
HP_FOCAL_T2_HYPERINTENSE_BRAINSTEM_LESION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_T2_HYPERINTENSE_BRAINSTEM_LESION	FOXRED1	TMEM126B	NDUFS6	NDUFAF3	NDUFB10	NDUFS4	NDUFAF2	NDUFS3	NDUFS7	NDUFV2	NDUFS2	NDUFS8	NDUFAF8	NDUFAF5	NDUFB9	NDUFB11	NDUFV1	NDUFAF4	NDUFA11	CCM2	NDUFA6	NUBPL	PDCD10	NDUFAF1	MT-ND1	NDUFA1	MT-ND3	TIMMDC1	NDUFS1	MT-ND2	NDUFB3	KRIT1
HP_ABNORMAL_BASAL_GANGLIA_MRI_SIGNAL_INTENSITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BASAL_GANGLIA_MRI_SIGNAL_INTENSITY	PET100	NDUFV2	NDUFAF2	NDUFS2	MICU1	NDUFA9	MT-ND2	SLC30A10	GCDH	NDUFS1	NDUFAF6	PDE10A	LIPT1	COQ2	GFAP	MT-TW	FOXRED1	TACO1	SPG11	MT-ND1	PRNP	COQ8A	GLB1	NDUFS7	MT-TL1	MT-ND5	PDSS2	MT-ND6	NADK2	NDUFV1	MT-ND3	SUCLG1	ETHE1	MT-ATP6	NDUFA10	NDUFS4	NDUFA13	SDHA	FASTKD2	GLI3	MT-ND4	SLC19A3	LRPPRC	PDHA1	MECR	ALG2	COX15	ECHS1	SURF1	MFF	NDUFA2	ASPA	MT-TV	NDUFAF5	NDUFS8	NDUFS3	MT-TK	NDUFA12	GTPBP3	MTFMT	VPS11	NDUFA4
HP_ABNORMAL_NEURON_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NEURON_MORPHOLOGY	VPS41	IGHMBP2	SMN1	MATR3	NEK1	SPG7	GLE1	CYLD	FUS	SIGMAR1	NEFH	CHMP2B	GRN	AGTPBP1	VRK1	VAPB	ERLIN2	PFN1	ALS2	C9orf72	ANG	TBK1	UNC13A	C19orf12	ATXN2	PRKAR1B	CPLANE1	FIG4	SPG11	VPS13D	PPARGC1A	SETX	ERBB4	PRPH	TARDBP	EXOSC3	PSEN1	MAPT	ATXN3	UBA1	SQSTM1	DCTN1	TRPM7	KIF5A	VCP	SLC25A46	TMEM106B	ASAH1	OPTN	UBQLN2	SMN2	AKT3	TREM2	HNRNPA1	ZNF335	PLEKHG5	MTOR	PON1	ALDH18A1	EXOSC8	RBM28	TUBA4A	EXOSC9	CCNF	CNTNAP2	SCP2	SPTLC1	PON2	CFAP410	SOD1	CHCHD10	PIK3CA	HNRNPA2B1	TFG	DAO	ANXA11	CEP126	GLT8D1	TYROBP	PON3	PNPLA6	TAF15	TIA1	EPHA4	GBE1
HP_CEREBRAL_WHITE_MATTER_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_WHITE_MATTER_ATROPHY	ALDH18A1	GFM2	PHGDH	GBA2	DPM2	MYL9	CACNA1E	CPSF3	HSD17B4	FAR1	EMC1	PLAA	LMNB1	FA2H	NAXE	MAN2B1	COG5	ASPA	CSF1R	ERCC8	DNM1L	HYCC1	IDH1	VPS41	IBA57	MDH2	SLC35A2	OPA1	ERCC6	ALG11	L2HGDH	AIMP1	PEX16	NSUN3	HACE1	MAG	POLR3K	ALG3	ATP8A2	IRF2BPL	DCX	BCAP31	TTC5	ATXN2	STUB1	USP7	TRAPPC11	CLN5	NDUFA8
HP_ORTHOPNEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORTHOPNEA	CHRNE	TBX20	TNNT2	TLL1	GATA6	KIF20A	CHRNB1	MYOZ2	CHRNA1	MYH6	DOK7	CITED2	FLNC	SCN4A	LRP4	CHRND	NKX2-5	AK9	TTN	RAPSN	ACTC1	GATA4	MYPN	COL13A1	AGRN	TNNI3	MUSK
HP_WIDENED_CEREBELLAR_SUBARACHNOID_SPACE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDENED_CEREBELLAR_SUBARACHNOID_SPACE	TSEN34	TSEN2	TSEN54	TSEN15	NMNAT1	SEPSECS
HP_WIDENED_CEREBRAL_SUBARACHNOID_SPACE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDENED_CEREBRAL_SUBARACHNOID_SPACE	TTC26	MT-ND4	MT-TS2	NARS1	MT-ND6	IDH1	MT-ND5	MT-CO3	MT-TH	MT-CO1	MT-TL1	MT-TW	MT-TF	MT-TQ	ALG12	MT-CO2	MT-ND1
HP_ABNORMAL_PLACENTAL_SIZE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PLACENTAL_SIZE	RTL1	ZMPSTE24	DLK1	CDKN1C	MEG3	IGF2	MKS1	HSPG2	PLAG1	PHGDH	MUSK	IGF1	LBR	LMNA	HMGA2	SKIC3
HP_NEONATAL_ASPHYXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_ASPHYXIA	SHPK	ALDH7A1	SLC27A4	RYR1	DNM2	GALK1	MTMR14	BIN1	SMARCA2	HSD3B2	MYF6	RNF168	PLPBP
HP_ABNORMAL_ARM_SPAN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ARM_SPAN	COL9A3	TGFB3	TRAPPC2	DLG4	MAF	NSD1	COL9A2	FBN1	SETD2	COL9A1	APC2
HP_INCREASED_ARM_SPAN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_ARM_SPAN	TGFB3	TRAPPC2	DLG4	NSD1	FBN1	SETD2	APC2
HP_ABNORMAL_CILIARY_BODY_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CILIARY_BODY_MORPHOLOGY	BAP1	CYSLTR2	GNAQ	GNA11	LAMB2	SF3B1
HP_NEOPLASM_OF_THE_EAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_EAR	SPRED1	SYK	SIX1	NF2	IPO8	DDR2	NFIX	NSD1	NKX2-1	SETD2	CHRNG	FOCAD	KARS1	EYA1	HRAS	VHL	APC2	CCND1
HP_KINKED_BRAINSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KINKED_BRAINSTEM	LARGE1	POMT1	FKTN	POMT2	FKRP	BLTP1
HP_INCREASED_CUP_TO_DISC_RATIO	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CUP_TO_DISC_RATIO	TRAPPC12	ASB10	EFEMP1	CYP1B1	CDH11	MYOC	COL18A1	TEK
HP_NARROW_JAW	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_JAW	SYT2	CCNK	SLC5A7	SNAP25	SLC25A1	CHAT	COL13A1	VAMP1	MYO9A	NSD1	MYOD1	AGRN	SLC18A3
HP_BROAD_JAW	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_JAW	GPR101	SH3BP2	ANO5	SNIP1	AIP	LRP5
HP_ANISOMETROPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANISOMETROPIA	ZFHX4	COL25A1	AP1G1	KRAS	CLCN3	SLC35A2	RERE
HP_CORNEAL_ULCERATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORNEAL_ULCERATION	NTRK1	GATA1	ZMPSTE24	MTTP	KIFBP	ERCC8	FGF10	UROS	ELP1	FOXC2	GJB2	ERCC6	NGLY1	GSN	PRDM12	MPV17	FGFR3	UROD	LMNA	TAT	RIPK4	FGFR2
HP_IRIS_TRANSILLUMINATION_DEFECT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRIS_TRANSILLUMINATION_DEFECT	CHRDL1	CPAMD8	COL18A1	C1QTNF5	BLOC1S5	MC1R	HPS5	DCT	OCA2
HP_PROBOSCIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROBOSCIS	DISP1	SHH	FOXH1	FGFR1	ZIC2	FGF8	TDGF1	STIL	PLCH1	DLL1	GAS1	PTCH1	TGIF1	NODAL	GLI2	CDON	STAG2	SMC1A	SIX3
HP_ABNORMAL_NASAL_BASE_NORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NASAL_BASE_NORPHOLOGY	ARID2	ARID1A	TBC1D24	SMARCA2	EXOSC2	SNX14	SMARCA4	LIFR	ABCA5	FIG4	ATP6V1B2	MYT1L	KMT5B	SMARCC2	SMARCB1	USP9X	SLC26A2	SIN3A	BCORL1	ARID1B	DPF2	SMARCD1	VAC14	SOX4	METTL5	SMARCE1	SOX11
HP_WIDE_NASAL_RIDGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDE_NASAL_RIDGE	POLR3A	SUZ12	RPL10	ALX4	MSL3	AP4M1	METTL5	HNRNPK	TBL1XR1
HP_HYPOPLASTIC_FEMALE_EXTERNAL_GENITALIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_FEMALE_EXTERNAL_GENITALIA	BRD4	DVL3	CDC6	NPAP1	RAD21	MAGEL2	ESR2	RAB3GAP1	SNRPN	DVL1	SEMA3E	SMCHD1	SETBP1	CTCF	SNORD115-1	NIPBL	MKRN3	OCA2	RIPK4	FIG4	PWRN1	RAB3GAP2	CHD7	B3GLCT	RAB18	NDN	CDC45	ORC1	SNORD116-1	PWAR1	FGFR2	PPP2R3C	GMNN	POR	NXN	FZD2	CDT1	RAC3	TP63	HDAC8	ORC6	UBE3B	WNT5A	TWIST2	ORC4	SMC3	AR	IRF6	GAD1	HERC2	SMARCA2	POC1A	SMC1A	CCNQ	MOGS	HNRNPR	PORCN	SIM1	SLC25A24	VAC14	ECEL1	ROR2	TBC1D20	ACTB
HP_NONCOMPACTION_CARDIOMYOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NONCOMPACTION_CARDIOMYOPATHY	SDHA	SDHD	TPM1	DTNA	NONO	SDHB	MIB1	RNU4ATAC	MYSM1	SDHAF1	RYR2	MYL2	DNAJC19	MLYCD	MYOCD
HP_MYOCARDITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOCARDITIS	GPX4	IRF4	PPA2	VHL	CCND1	SLC2A10
HP_RETINAL_VASCULAR_TORTUOSITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_VASCULAR_TORTUOSITY	MT-CYB	DNAJC30	BCL7B	NEK1	MLXIPL	ESS2	VPS37D	SEC24C	DGCR2	NCF1	MT-ND5	MT-ND2	COL4A1	EIF4H	MT-ND6	TBX1	HIRA	MT-ND4	GTF2IRD2	LIMK1	IFT172	NDP	MT-CO3	FKBP6	METTL27	RFC2	PAX6	LAMB2	ELN	TBL2	ETHE1	TMEM270	MT-ATP6	MT-ND4L	GP1BB	ARVCF	DGCR8	GTF2I	NDUFS2	JMJD1C	CENPF	GTF2IRD1	WT1	RREB1	LRP5	BUD23	CLIP2	MT-ND1	MT-CO1	DGCR6	SELENOI	COMT	UFD1	STX1A	BAZ1B	FZD4
HP_SKIN_APPENDAGE_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_APPENDAGE_NEOPLASM	MSH2	CTNNB1	MLH1	WNT10A	CREBBP	APC	KEAP1	KLLN	SEC23B	GJB2	DICER1	PTEN	FLCN	GJB6	EP300
HP_HAIR_FOLLICLE_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAIR_FOLLICLE_NEOPLASM	GJB2	PTEN	KLLN	SEC23B	GJB6
HP_EPILEPSIA_PARTIALIS_CONTINUA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPILEPSIA_PARTIALIS_CONTINUA	PCDH19	GABRA1	MRM2	SCN2A	TWNK	SCN9A	GABRG2	SCN1B	SCN1A	POLG
HP_SMALL_INTESTINAL_DYSMOTILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_INTESTINAL_DYSMOTILITY	LIG3	RRM2B	CPOX	TYMP	POLG	MYO1H
HP_HEPATIC_BRIDGING_FIBROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATIC_BRIDGING_FIBROSIS	FADD	ATP6AP1	DCDC2	KIF12	USP53	LIPA	RINT1	CYP7B1	TULP3
HP_ABNORMAL_SCROTAL_RUGATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SCROTAL_RUGATION	TOE1	MINPP1	SOX9	SRY	NR5A1
HP_OVOTESTIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVOTESTIS	SRY	RSPO1	WNT4	NDUFB11	COX7B	HCCS
HP_ABNORMAL_GERM_CELL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GERM_CELL_MORPHOLOGY	FBXO43	CFAP43	STRC	NANOS1	GBA2	CATIP	ZPBP	PPP2R3C	DZIP1	CFAP47	CFAP58	SPATA16	ACTL9	CFAP91	WDR19	CDC14A	GGN	CFAP70	SUN5	CEP112	CFAP251	IFT74	SEPTIN12	CATSPER2	CCDC62	DNAH1	BRDT	DNAH17	TTC21A	QRICH2	DPY19L2	AURKC	FKBP6	DNAH8	SPEF2	C2CD6	CFAP44	CCDC34	FSIP2	CFAP65	DNAH2	ARMC2	DNHD1	KLHL10	TSGA10	DNAH10	TTC29	FSHB	PMFBP1	CFAP69
HP_ABNORMAL_SPERM_HEAD_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SPERM_HEAD_MORPHOLOGY	FBXO43	STRC	NANOS1	GBA2	CATIP	C2CD6	ZPBP	SPATA16	ACTL9	CFAP91	GGN	CFAP70	SUN5	ARMC2	CEP112	TSGA10	CATSPER2	CCDC62	BRDT	DNAH17	TTC29	PMFBP1	DPY19L2	AURKC	CFAP69
HP_ABNORMAL_SPERM_TAIL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SPERM_TAIL_MORPHOLOGY	CFAP43	STRC	NANOS1	SPEF2	CATIP	CFAP44	DZIP1	CCDC34	CFAP47	CFAP58	FSIP2	CFAP65	DNAH2	CFAP91	WDR19	CFAP70	ARMC2	DNHD1	CFAP251	IFT74	CATSPER2	DNAH10	DNAH1	DNAH17	TTC21A	TTC29	QRICH2	AURKC	CFAP69	FKBP6	DNAH8
HP_ACEPHALIC_SPERMATOZOA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACEPHALIC_SPERMATOZOA	SUN5	BRDT	CEP112	PMFBP1	TSGA10
HP_ABNORMAL_VAS_DEFERENS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VAS_DEFERENS_MORPHOLOGY	ADGRG2	GSTM3	CFTR	HFE	TGFB1	CLCA4	EDNRA	SLC11A1	SERPINA1	SLC26A9	GCLC	HNF1B	CEACAM3	CEACAM6	STX1A	AR	SLC9A3	SLC6A14	KCNN4	MIF	DCTN4	HMOX1
HP_ABNORMAL_MALE_REPRODUCTIVE_SYSTEM_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MALE_REPRODUCTIVE_SYSTEM_PHYSIOLOGY	SMARCE1	FGF17	FANCB	VPS37D	PNLDC1	SHOC1	CFAP47	CFAP58	UBE2T	KLHL10	KIT	TAF4B	DAZ1	ZMYND15	KISS1R	SYCP3	RSPH3	ZFPM2	IFT74	MSH4	RTN2	STK36	HFE	PRKN	FMR1	DNAH17	CDKN1B	CFAP300	BRCC3	ATXN8OS	CTNS	NR5A1	STEAP3	SYCE1	CCDC65	SRY	CNBP	SMO	DBH	MECP2	CCDC141	WWOX	ERCC4	AIP	ADGRG2	DCAF17	SYNJ1	FANCM	COQ2	PALB2	DNAH1	DNAH5	HS6ST1	SLC26A8	SPAG1	MLXIPL	BRCA2	CDH23	LMNB1	CFAP410	NDP	DUSP6	TTR	BAP1	CFAP221	RSPH9	WT1	SPINK2	TXNRD2	FKBP6	MSH5	ZMYND10	RAD51C	WDR11	UCHL1	NF2	MCIDAS	TERB2	TEX11	MAD2L2	XRCC2	GAS2L2	NDNF	FSIP2	FANCA	ANOS1	SPRY4	EIF2S3	DNAAF5	CEP19	CLIP2	GNRHR	SOX9	BRIP1	RSPH4A	NNT	PKD1	DDX3Y	ERCC6	CYP17A1	RFWD3	CDY2A	CFAP298	TFR2	STRC	GBA2	DMRT3	BMP6	DZIP1	DAZ2	GAS8	OFD1	SMARCB1	NR0B1	HTRA2	MRAP	MEIOB	BRCA1	SLC40A1	ABCD1	RPS4Y2	GATA4	DNAH2	NSMF	C14orf39	CISD2	SOHLH1	SPAG17	VCY	DNAAF1	ODAD3	STAR	HEXB	BLM	ERCC8	BAZ1B	HJV	DNAI2	FSHB	PRY2	HBB	ELN	BMP2	GNRH1	CCDC34	DNAJB11	CATIP	TTC12	NANOS1	UBAP1	ATM	RPGR	CATSPER2	TRAF7	PROK2	FEZF1	DNAI1	EIF4H	TSPY1	SNCA	IL17RD	DAZ3	STK11	ERCC1	HAMP	FGF8	DNAH9	RPL10L	TTC21A	AIRE	SLC29A3	CDKN1A	CFTR	CCDC103	OCRL	CCNO	MEN1	MC2R	PARK7	LRRK2	DNAAF6	CFAP65	SEMA3A	PRKAR1A	PROKR2	POLA1	GPR101	HNF1B	USP9Y	ANTXR1	CCDC39	FANCC	CFAP43	M1AP	NR3C1	PODXL	DNAJB13	CLDN2	SACS	PKD2	CFAP91	CHD7	DHH	CDC14A	DNAAF4	SOX3	SUN5	GCNA	DCC	ODAD4	METTL27	AR	TDRD9	HSFY1	CFAP45	GTF2IRD1	BPY2	IRF4	RBMY1A1	POC1A	KISS1	FOXJ1	NME8	PINK1	PDGFB	VPS13C	ZSWIM7	CDKN2B	ODAD2	TEX14	PMFBP1	FBXO43	BCL7B	TEX15	NCF1	SCP2	DNAH11	WFS1	NEK10	AKT1	HYDIN	SPEF2	CDY1	RSPH1	RFC2	FANCD2	TBL2	TERB1	TACR3	LHCGR	RNF212	TAC3	MCM8	GTF2I	DNAAF2	PDHA2	FANCI	MOV10L1	FLRT3	DNHD1	CDKN2C	STAG3	TTC29	STX1A	GBA1	DNAJC30	SYCP2	ALMS1	LRRC56	PIK3CA	TERT	DNAL1	IFT172	CCDC40	GANAB	FGFR3	VAMP7	DHX37	DNAH8	HESX1	POR	CACNA1G	ANAPC1	BCL10	DNAAF3	FANCF	BUD23	KDM5D	DNAH10	HSD3B2	ALG5	MAP3K1	GALC	GUCY1A1	DNAAF11	PIGA	SUFU	WDR19	SLX4	CFAP70	FGFR1	GTF2IRD2	LIMK1	FANCL	CEP112	SEPTIN12	ANK1	BRDT	TMEM270	CATSPER1	BICC1	LHB	SOX10	PDE11A	FANCE	FANCG	ARMC2	IFT140	PRY	DNAJC6	DRC1	RAD51	ALG9	DAZ4	ODAD1	CFAP69
HP_ABNORMAL_LABIA_MINORA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LABIA_MINORA_MORPHOLOGY	CDC6	NPAP1	MAGEL2	ESCO2	RAB3GAP1	SNRPN	DVL1	KAT6B	SETBP1	SNORD115-1	MKRN3	OCA2	PWRN1	RAB3GAP2	RAB18	NDN	CDC45	ORC1	SNORD116-1	PWAR1	POR	DVL3	FZD2	CDT1	ATIC	ORC6	WNT5A	TWIST2	GAD1	ZFPM2	HERC2	FGFR2	GMNN	SIM1	ORC4	TBC1D20	ACTB
HP_ABNORMAL_LABIA_MAJORA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LABIA_MAJORA_MORPHOLOGY	BRD4	CDC6	RAD21	ESR2	CHRNG	DVL1	SMCHD1	SETBP1	CTCF	NIPBL	LIPE	RIPK4	FIG4	CDC45	ORC1	FGFR2	AR	PPP2R3C	GMNN	POR	DVL3	FZD2	CDT1	TP63	HDAC8	ORC6	UBE3B	NR5A1	WNT5A	TWIST2	ORC4	SMC3	IRF6	GAD1	MYH3	B3GLCT	SMC1A	PMM2	SLC25A24	HSD3B2	VAC14	ECEL1	ROR2	RAB3GAP2
HP_ABNORMAL_UTERINE_CERVIX_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_UTERINE_CERVIX_MORPHOLOGY	STK11	COL1A1	COL5A2	CDKN1B	CXCR4	FGFR3	COL5A1	COL3A1	PLG	AR	SRY
HP_ABNORMAL_MOTOR_EVOKED_POTENTIALS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MOTOR_EVOKED_POTENTIALS	CYP27A1	SACS	STUB1	NEFL	GJC2	CPT1C
HP_HANDGRIP_MYOTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HANDGRIP_MYOTONIA	SCN4A	CLCN1	CNBP	ACTA1	PURA	HINT1
HP_EURYBLEPHARON	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EURYBLEPHARON	DLX4	ACTG1	CTNND1	DVL3	DVL1	FZD2	CDH1	ACTB	WNT5A
HP_ESODEVIATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ESODEVIATION	PHGDH	CACNA1A	KCNMA1	IARS2	GRM1	CLCN3	ZEB1	CPLANE1	ATOH7	VRK1	MKRN3	DDX59	KIAA0753	PIGY	FBXO28	COL13A1	AMMECR1	PIGV	MBD5	TCTN3	MAGEL2	TBC1D2B	SLC25A46	ATP1A3	RORA	H4C3	MYOD1	TBC1D23	NALCN	COL6A1	HMGB3	PMM2	KAT6A	AHDC1	CLCN6	NCDN	UNC80	SLC5A7	DLAT	GTF2H5	HOXB1	PIDD1	EXOSC8	ADGRG1	EXOSC5	CHMP1A	COL4A2	TOPORS	ZEB2	EXOSC9	PPP1R21	OFD1	COL6A2	VAMP1	PAK1	MECR	AP1G1	MPLKIP	PPP2R5D	KIDINS220	ARHGAP31	OVOL2	DYRK1A	ATAD3A	DLK1	ARPC4	AHCY	APC	UFSP2	COG8	POU4F1	GTF2E2	LAGE3	NEUROD2	RTL1	KIF7	PUS7	RRAS2	BLOC1S3	TUBB3	FBN1	MED12	COL6A3	GNB1	PDE4D	ALG2	BPTF	HERC2	CLP1	MEG3	SIAH1	GNA14	PIGN	MYO9A	KDM6B	SEC23A	VPS50	PDE6D	SLC1A3	NPAP1	PRKAR1B	ERCC3	SLC12A6	SREBF1	CDC42BPB	SNORD115-1	RERE	AARS1	ABCC9	COL12A1	HPS3	AGTPBP1	GLRB	PWRN1	SLC18A3	KAT8	SCN8A	PCDHGC4	TELO2	DDOST	SNORD116-1	PWAR1	TMEM222	EXOSC3	ADAT3	PTEN	GRID2	CYB5A	TARS1	MADD	SLC25A1	IRF2BPL	TMEM216	CHAT	CHST3	ALG9	SLC38A8	DDB1	SLC35C1	POLG	SALL2	SYT1	FRMD5	CARS1	RRM2B	PI4KA	SNAP25	PURA	LMNB1	SOST	PIGT	TBX1	PGAP2	USP7	NEXMIF	VSX1	ATP1A2	CYB5R3	DPM1	LGI4	PYCR2	POLA1	ERCC2	PEX5	SATB2	RNF113A	GJA5	EMC1	CAMK2B	LMBRD2	NSD1	NR2F1	KIF21A	SON	AGRN	H4C11	PIGW	HUWE1	HPDL	PGAP3	TENM3	ROBO3	CRB1	GJA8	PIGO	COL8A2	GALC	LRP5	TRIT1	NTNG2	COL11A1	RNASEH1	PLPBP	B3GAT3	PUF60	SYT2	FAM149B1	ZSWIM6	FZD4	SOBP	DPP6	GRHL2	GBA1	PIGL
HP_ABNORMAL_MYELOID_CELL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MYELOID_CELL_MORPHOLOGY	CDIN1	RACGAP1	SLC19A1	KIF23	MYSM1	DDX41	UBA1
HP_EXODEVIATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXODEVIATION	SLC1A3	TAF2	WARS2	LCA5	SPATA5	RERE	DNMBP	PTRH2	POLRMT	ATP1A3	OCA2	SCO2	PHOX2A	GNB2	GALNT2	PCDHGC4	H4C5	SLC35A2	PAX6	THOC2	MADD	FBXW11	PUF60	RPL10	SLC25A46	SLC17A5	CDH11	SALL2	TMEM231	FGFR2	HADHA	KDM1A	ADARB1	HMX1	ATRX	TBX1	FGFR3	COL4A1	PYROXD1	TMEM67	SPATA7	HNRNPH2	DPAGT1	ATP1A2	MTRFR	AFF4	RP1L1	CDC42	MYF5	TYR	RPE65	GJA5	SLC6A8	NR2F1	KIF21A	NGLY1	SMAD3	SON	CACNA1A	BCOR	FGF10	GMPPA	HPDL	ADD3	PRPS1	CACNA1F	CRIPT	DYRK1A	CRB1	NMNAT1	GJA8	ARPC4	UFSP2	ALDH3A2	EXOC8	HACE1	LRAT	MRPS34	UBE3A	ADGRG1	RNF2	PRR12	MRPS2	BLOC1S3	FBN1	SOX5	TUBB3	NONO	GNB1	WT1	TGFBR2	EFNB1	SIAH1	POGZ	BCORL1	SNRPN	ZC4H2	MC1R	ADNP	GRIA1	KDM6B	LYRM7	TRAPPC11	ACADSB	ATP13A2	TGFBR1	P4HTM
HP_ABNORMAL_ERYTHROCYTE_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ERYTHROCYTE_PHYSIOLOGY	RHAG	RHCE	RHD	GYPC	ANK1	EPB42	SLC4A1	SPTA1	SLC4A4	SPTB	KCNN4	HBB	EPB41	PIEZO1	PKLR
HP_ABNORMAL_HEMOGLOBIN_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEMOGLOBIN_CONCENTRATION	PGK1	PIEZO1	KCNN4	SLC4A1	AMN	MADD	PKLR	KLF1	CUBN
HP_PERSISTENT_EBV_VIREMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERSISTENT_EBV_VIREMIA	PIK3R1	IKZF3	PRKCD	PGM3	LAT	DEF6	TET2	TOM1	ITK	MAGT1	CD27
HP_HYPOPIGMENTED_MACULE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPIGMENTED_MACULE	RASA1	SPECC1L	MEN1	POFUT1	TSC1	PSENEN	NF1	IFNG	ABCB6	NONO	KRT5	POGLUT1	KRT14	TSC2	EPHB4	FANCC	PLEC	CDKN2C	CDKN1B	CDKN2B	ENPP1	CDKN1A
HP_ERYTHROCYTE_INCLUSION_BODIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERYTHROCYTE_INCLUSION_BODIES	HBA1	HBA2	FADD	GPX1	CASK	HBB	STIM1	PUS1	G6PD	RPSA
HP_HEINZ_BODIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEINZ_BODIES	HBA1	HBA2	GPX1	CASK	HBB	G6PD
HP_INFECTION_FOLLOWING_LIVE_VACCINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFECTION_FOLLOWING_LIVE_VACCINATION	SPPL2A	STAT2	DCLRE1C	REL	IFNAR1	IL12RB1	TBX21	FCGR3A	TCF3	ZNFX1	IFNAR2	IRF8	CYBB	IFNG	IL12B
HP_BCGITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BCGITIS	SPPL2A	DCLRE1C	IRF8	FCGR3A	IL12B
HP_BCGOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BCGOSIS	ZNFX1	REL	CYBB	IFNG	IL12RB1	TBX21
HP_RECURRENT_STREPTOCOCCAL_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_STREPTOCOCCAL_INFECTIONS	IGKC	IRAK4	IGHG2	LYST	CFI
HP_UNUSUAL_FUNGAL_INFECTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNUSUAL_FUNGAL_INFECTION	IL2RG	CD247	POU2AF1	IL12RB1	SREBF1	TFRC	IL17F	STAT1	NCF1	SERPINA1	IL21R	ADA	RFX5	MVK	STK4	HPGD	DOCK8	CARMIL2	RFXAP	DOCK2	PIK3CD	CYBC1	RFXANK	SLC9A3	KCNN4	IL7R	ITGB2	TP53	CYBB	TRAF3IP2	RAG1	SPIB	IKBKG	CLCA4	IKBKB	BRAF	SDR9C7	GJB2	RAG2	ZAP70	IL6ST	ATR	DCLRE1C	NR3C1	SLC26A9	AIRE	SLC39A4	IL17RA	CARD11	SP110	IRF5	KRT1	CEACAM6	TLR8	SLC6A14	AP3B1	CD3E	CARD9	HMOX1	GJB6	ZNF341	GSTM3	WDR1	ATRX	MMEL1	USP8	IL17RC	PGM3	NFKB2	TGFB1	GCLC	KNSTRN	STAT3	TYK2	DEF6	NCF2	CLEC7A	BTD	DCTN4	CIITA	GATA2	TOM1	CD40LG	CFTR	HFE	IL2RA	EDNRA	CYBA	TNPO3	CD3G	SLC11A1	IL12A	CDH23	CEACAM3	CD3D	USP48	STX1A	PLCG2	TNFSF15	EPG5	MIF	JAK3
HP_BONE_FRACTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BONE_FRACTURE	MTAP	SQSTM1	CLCN7	SLC2A2	ANAPC1	TBCD	GNAS	TNFRSF11A	GALT	MOGS	FGF23	TAPT1	LBR	EXT1	UBA1	EXT2
HP_HYPOPLASTIC_DERMOEPIDERMAL_HEMIDESMOSOMES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_DERMOEPIDERMAL_HEMIDESMOSOMES	PLEC	ITGB4	LAMA3	LAMC2	ITGA6	LAMB3	COL17A1
HP_ABNORMAL_URINE_PROTEIN_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_PROTEIN_LEVEL	DNASE1L3	LRP2	MT-ND4	SH2B1	SDHB	WDR4	CFI	TP53RK	HMOX1	LMX1B	VPS37D	ITGA3	ACP5	B2M	SDHD	MMACHC	AMN	TREX1	ANLN	VHL	PKD2	LMNB2	GATM	DNMT3A	MT-TK	EHHADH	PDX1	OCRL	MAX	THBD	CFH	TBC1D8B	METTL27	RET	MYH9	CTNS	CFB	TRIM8	SLITRK6	ADAMTS13	NUP85	GLA	MT-TH	PBX1	MT-TL1	FH	NPHS2	SMARCA2	GTF2IRD1	ARHGDIA	PUS3	NPHS1	ATP7B	ERCC4	PTPRO	PMM2	APOA1	NUP133	WT1	ERCC8	SLC22A12	SLC34A1	PEX1	CD46	VPS33A	SCARB2	CTLA4	CRB2	CLCN5	NUP37	BCL7B	MLXIPL	TPRKB	MTX2	MYO1E	EMP2	CUBN	NCF1	PRTN3	LYZ	GAPVD1	SPRY2	VIPAS39	MAGI2	COL4A3	INF2	APOL1	MAFB	ANKFY1	NUP205	HLA-DPB1	SARS2	FKBP6	RFC2	REN	SPP1	NOTCH2	RNU7-1	LAGE3	TBL2	PAX2	MT-ND6	NF1	FN1	WDR73	NUP107	KIF1B	CD81	COA8	SMARCAL1	GTF2I	SLC37A4	NOS3	ACTN4	ERCC6	TRPC6	COQ6	YRDC	GBA1	SAA1	MT-TS2	COL4A5	CLIP2	GALT	NEU1	PKD1	SDHA	GSN	DGKE	MT-TQ	MAF	STX1A	NUP160	STAT2	WDR19	VPS50	DNAJC30	AMMECR1	MT-ND5	KCNJ11	SLC2A9	MT-TE	STAT4	STAT3	NOS1AP	NIPBL	SGPL1	OSGEP	IER3IP1	TMEM127	COQ2	KARS1	MDH2	DDOST	IFT172	MT-CO1	ABCC8	OFD1	GANAB	FLT1	FGA	NUP93	PLCE1	CLCNKB	NDUFAF6	PRODH	PDSS2	COQ8B	SDHC	HNF4A	SLC25A11	HELLPAR	EPAS1	FOXC2	KANK2	CD2AP	PSTPIP1	COL4A6	BUD23	APRT	LAMB2	MEFV	UNC45A	ITGA8	KIRREL1	SLC7A7	GCK	GATA3	ALG5	BAZ1B	SNAP29	ELN	MIA3	LCAT	COL4A4	CORIN	DNAJB11	SURF1	IRAK1	PIGA	LPIN2	MT-CO2	EIF4H	MT-TN	GTF2IRD2	LIMK1	G6PC1	MT-TF	DNASE2	STOX1	TMEM270	INS	BICC1	SLC35A1	VPS33B	HLA-DPA1	PRDX1	KCNE5	PYGL	APOE	IFT140	ZAP70	FAN1	ACSL4	HNF1B	MT-CO3	PTPN22	C3	MT-TW	ALG9	ARHGAP24	DLST	SDHAF2	DAAM2	MT-ND1	SLC12A3
HP_ABNORMAL_TUBULAR_BASEMENT_MEMBRANE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TUBULAR_BASEMENT_MEMBRANE_MORPHOLOGY	DCDC2	TMEM67	XPNPEP3	MUC1	NPHP1
HP_DISTAL_JOINT_LAXITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_JOINT_LAXITY	PYROXD1	COMP	PLOD1	COL6A3	COL13A1	ALG2	COL12A1	COL6A2	COL6A1
HP_ABNORMAL_OOCYTE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_OOCYTE_MORPHOLOGY	PANX1	WEE2	PATL2	TUBB8	ZP2
HP_ABNORMAL_HAPTOGLOBIN_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HAPTOGLOBIN_LEVEL	GATA1	RHCE	RHD	XK	UROS	ALDOA	RHAG	PIGA	ABCG8	PKLR	CBLIF	KLF1	KIF23	SLC2A1
HP_ABNORMAL_SARCOMERE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SARCOMERE_MORPHOLOGY	ACTN2	LMOD2	RYR1	UNC45B	TTN	NOTCH2NLC	ANO5	LAMA2	SQSTM1	KY	TNNT1	FXR1
HP_ABNORMAL_Z_DISC_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_Z_DISC_MORPHOLOGY	UNC45B	ACTN2	LMOD2	SQSTM1	KY	TNNT1	FXR1
HP_SIMPLE_EAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SIMPLE_EAR	NSRP1	CREBBP	CAPN15	SH3PXD2B	EXOC2	EP300	DHX16	GJA5	BICRA	SMARCD2	DDB1	POR	GJA8	WDR35	YY1
HP_REFLEX_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REFLEX_SEIZURE	PCDH19	CACNB4	SCN2A	SYNGAP1	SCN9A	GABRG2	TUBB3	EFHC1	TUBB2B	CLCN2	CHD2	GABRA1	TUBA1A	SLC9A6	CILK1	JRK	SCN1B	SCN1A	CPA6	KCNQ3	GABRD	KCTD7
HP_VISUALLY_INDUCED_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VISUALLY_INDUCED_SEIZURE	PCDH19	CACNB4	SCN2A	SCN9A	GABRG2	EFHC1	CLCN2	CHD2	GABRA1	SLC9A6	CILK1	JRK	SCN1B	SCN1A	CPA6	KCNQ3	GABRD	KCTD7
HP_MOTOR_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOTOR_SEIZURE	SCN2A	SCN1A	DEPDC5	TSEN2	GABRA3	NACC1	SPATA5	CDKL5	UGDH	GRIA2	KCNQ5	ST3GAL3	PURA	PSAP	CACNB4	ALDH7A1	MT-ND1	RNU4ATAC	FBXO28	SETD2	EXTL3	DPYD	PDX1	KCNQ2	STX1B	AP3D1	SPATA5L1	ELOVL4	GRIN2B	ATP1A2	SLC25A15	COL18A1	TRIM8	EPM2A	GLB1	SCN9A	PCDH12	ATP2B1	MED13	ASAH1	TUBA8	CAMTA1	KCNQ3	NCDN	ALDH5A1	CELF2	GABRD	NDUFAF8	EXOC7	GRIN1	MFSD8	MT-TK	ADGRG1	AP2M1	HK1	SLC35A3	GRIN2A	CARS2	GAMT	GBA1	PRRT2	GABRA5	RUSC2	KCNB1	AARS1	KCTD7	GALC	CABP4	GABRA1	TRAPPC12	TSEN54	PIGQ	KNSTRN	MACF1	SLC12A5	EHMT1	NDUFAF6	DMXL2	HDAC4	PIK3CA	KCNA2	MT-ND6	UFSP2	DPH5	APC2	KDM5C	MT-ATP6	NPRL2	EFHC1	ZNF526	SMARCAL1	KIF1A	MT-TQ	RELN	GNB1	MT-TL1	SMC1A	GOSR2	CPLX1	POU4F1	MICAL1	ALG2	KCNJ11	CDH2	ZNHIT3	MECP2	SIK1	SETD1B	MT-TI	SCN1B	VPS50	SLC1A3	DPM2	DHX16	SLC25A22	GPAA1	KDM4B	TMEM147	CIC	COG2	SPTBN1	NGLY1	SRPX2	SLC38A3	ATP7A	CHD2	SLC6A1	PRUNE1	GABRB3	TBC1D24	GNB2	ARFGEF1	HID1	GRM7	WDR45B	PCDH19	AFG3L2	GABRG2	RNF13	DOHH	PTEN	ATP6V0A1	NSD1	HCN4	SMS	MAPK10	KCNT1	JRK	SLC6A19	TSEN34	CENPE	PTRH2	TPK1	CLPB	PHACTR1	MT-TV	CNPY3	MTOR	CLCN3	PIGT	MGAT2	CACNA1A	HEXB	TUBA1A	ALDH4A1	SCN8A	SLC35A2	CACNA1D	MT-TH	STRADA	SDHAF1	PLCB1	FBLN1	NTNG1	CASK	KCNC2	SQOR	PGAP3	ARX	RBL2	NSF	CRH	NTRK2	MDH2	PEX3	TBL1XR1	NAPB	SPTAN1	YWHAG	NPRL3	COX8A	DNAJC5	HYMAI	PRICKLE1	SDHD	PIGP	TMX2	MT-TP	PIGM	ACSF3	PLPBP	HCN1	CDK19	HNRNPU	SYNGAP1	NDUFAF3	SLC1A2	TRAPPC9	DALRD3	PIK3CD	PPP3CA	TSC2	PHGDH	ASPA	MT-TF	TUBB2B	UBE3A	TSC1	GLYCTK	KCNK4	GCDH	ACTL6B	CILK1	NDUFV1	RAB18	CHRNA4	NECAP1	PPIL1	MT-ND5	GRN	GABBR2	ADAM22	SATB1	ATP1A3	GRIA3	ALG14	NDE1	EEF1A2	AKT3	TMEM231	PI4KA	ERCC5	DNM1L	NARS1	DNM1	MFF	PTPN23	GNAO1	IFNG	FRRS1L	MAPK1	DPAGT1	CLN5	EXOSC5	PSAT1	CHRNB2	PCYT2	MMACHC	NEXMIF	PPP1R21	GPHN	SLC25A10	NR4A2	SLC19A3	TBCD	TUBB3	EN1	KCNT2	NEU1	DYRK1A	KIF5C	SNORD118	MT-RNR1	ADGRV1	NEUROD2	HACE1	CLN3	PPFIBP1	NHLRC1	MT-ND4	CUX2	BRAT1	KCNMA1	ALG13	SLC25A12	RALGAPA1	CHRNA2	NDUFA1	POMK	CLCN2	RTN4IP1	SLC9A6	NUS1	TIMM50	MT-TS2	CSNK2A1	SLC2A1	KCNA1	CTSD	MT-ND2	PLAGL1	TANGO2	NAXE	STAT3	SCN3A	IER3IP1	COQ5	VPS53	CEP85L	KARS1	NBEA	DOCK7	ABCC8	SETBP1	SDHB	CACNA1C	SLC1A4	TSEN15	DOLK	SMARCA2	CLCN4	RPL10	PDHA1	HCN2	ARHGEF9	ATXN10	CDC40	CAMK2A	TUBG1	DHDDS	FARS2	LGI1	GCK	DPM1	MBOAT7	LONP1	OGDHL	PYCR2	LNPK	GUF1	GRIK2	MICOS13	CAMK2B	WDR45	STXBP1	KANSL1	TGFB1	SDHA	MT-TW	OPHN1	PIGA	DHX37	ATP6AP2	BTD	HIBCH	MT-ND3	EXOC8	INS	TRIT1	SAMD12	DCX	IQSEC2	COX4I1	GAD1	CLN8	CUL3	PRDM8	FAR1	NAXD	D2HGDH	CSNK2B	SEPSECS	BUB1B	PAFAH1B1	MTHFR	PNKP
HP_CLONIC_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLONIC_SEIZURE	SCN2A	KCNA1	DPM2	CUX2	DMXL2	GRIN2A	GRIK2	TRIM8	SCN1B	GLYCTK	KCNK4	SPTBN1	ATP1A3	PRRT2	SCN3A	GRIA2	PCDH19	SCN1A	CASK	KANSL1	GABRA1	KCNQ3	PSAP	HCN1	TBC1D24	PIGQ	PEX3	GRM7	NAPB	ARX	KCNQ2	FRRS1L	KIF5C	ATP6V0A1	UFSP2	GRIN1	GABBR2	ADAM22	SATB1	ATP1A2	SCN9A	PIGP	SMARCAL1	ACSF3	NEUROD2	PLPBP	RELN	SLC25A22	GNB1	CDKL5	MICAL1	TPK1	GABRG2	GNAO1	SRPX2	LGI1	SLC12A5	ALDH7A1	SIK1	SCN8A	PNKP
HP_DECEREBRATE_RIGIDITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECEREBRATE_RIGIDITY	GALC	ASPA	PSAP	ARSA	GLB1
HP_ABNORMAL_VASCULAR_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VASCULAR_MORPHOLOGY	MT-ND4	SDHB	MGP	ODC1	VPS37D	TBX1	BAP1	CTCF	SDHD	FOXE3	SFTPB	KYNU	LIPA	UBA1	ZNF699	ITGA2	RNASEH2C	MINPP1	FAT4	SMARCB1	TPM2	PTPN11	MT-CO3	MT-TC	THPO	BRCC3	MEGF8	CYP26C1	RASGRP1	GP1BB	ADH5	MAT2A	ADA2	KCNJ5	KCNN3	ZIC3	TGFBR2	KRAS	WAC	CCDC8	MAX	FLNA	ARID1B	MYH11	PKD1	RNASEH2B	DNAH1	PDCD10	RPS29	POLR3A	LZTR1	NPR3	ASS1	BRCA2	RYR2	JAG1	NADSYN1	BMPR2	NOTCH1	RPL35A	MYH7	PRTN3	NIPA1	PIGN	PSMD12	WNT4	FGFR3	USP8	HGD	NEK8	ERCC8	GDF1	PGM3	NKX2-5	GATA6	PTH1R	C12orf57	FKBP6	TGFBR3	NCAPG2	CST3	JAK2	IFT43	CCND1	IGBP1	MCIDAS	ATN1	KIF1B	SMARCAL1	GAS2L2	CHD7	MT-TS2	MT-TW	ATP6V1A	NEK9	GJA5	MPI	ARX	AEBP1	CDH2	USP48	CAVIN1	TRRAP	ARF1	FLT4	IL12A-AS1	PIK3CA	MYPN	FBN1	TEK	PPP1CB	PCGF2	MT-ND5	MYCN	TNFSF11	NGLY1	ATP7A	VHL	KDM6A	GABRD	CSF2RA	STXBP1	PTDSS1	SLC25A24	RPL26	MEIS2	TCOF1	KMT2D	EIF2AK4	CRELD1	SAMD9	MYLK	FARSB	UBE3B	TNNT2	ACTB	SMAD4	HTRA1	RSPO2	TREX1	TSC2	TGDS	SIX3	DNAAF1	PAH	MT-ND1	WDR37	CTU2	HEXB	ELN	CCDC22	DVL3	MT-CYB	DNAJB11	TRAF7	NOTCH2	PRKCD	FLI1	WRN	EIF4H	MCTP2	SCN10A	DYRK1A	MT-TF	KDR	NXN	WDR19	SOX11	COQ4	HYMAI	KCNH1	SRCAP	NR2F2	MASP1	F2	GLI2	ACAD9	FADD	CCDC39	CITED2	GPIHBP1	EIF2AK3	RPS15A	CBS	PLXND1	NEK1	HACD1	ACP5	GATA2	IL10	SUFU	EPHB4	KMT5B	ZMPSTE24	MAP3K7	HABP2	MEG3	F13B	MVK	GNAQ	AMMECR1	RRAS2	METTL27	CD244	ADAMTS13	ITGA2B	GLA	LMNA	TONSL	BUB1B	TMEM231	ERCC4	PEX1	ADK	FOXC2	NME8	PMM2	LEMD2	SNX14	PDGFB	CFAP53	HIBCH	ACVRL1	PLIN1	SOX18	GPR35	SMAD3	NCF1	KIF20A	TKT	FBN2	GGCX	EFEMP2	DNAH11	ICOS	IFNGR1	RERE	HYDIN	PPARG	NKX2-6	RAC1	SNORD118	NT5E	KAT6B	KRIT1	TMCO1	LMAN1	EPHX2	GM2A	DNAAF2	MED12	PIK3R2	RASA1	IFIH1	FANCI	SMG8	MLXIPL	TAOK1	PTCH1	MARS2	PROC	DYRK1B	PHGDH	CR2	THOC6	FGFR1	MAPK1	PQBP1	FGF8	ENG	ASAH1	GBA1	HNRNPK	FIBP	GATA4	FGB	PLAGL1	SNRPN	RNASEH2A	HIRA	WAS	RPS19	MT-CO1	SALL4	TSC1	C4A	PPP2R1A	LMBRD1	TET2	SKIC2	IL23R	ARVCF	NSMCE2	ITPR1	IFNG	ALG2	ALX1	KCNJ8	HLA-B	FANCF	FGFR2	NPPA	NFIX	STIM1	KMT2B	BANF1	MAP2K1	DNAH9	SH3PXD2B	GUCY1A1	NFKB2	DNAAF11	LIFR	ESR1	UBE2A	FANCM	NSD1	TDGF1	PTEN	DMPK	RNF168	UBE4B	MEFV	ALG8	PIGA	NODAL	NRAS	RPS17	ATP6V0A2	ANK1	TTR	NAA10	DPF2	DISP1	SAMHD1	ARPC1B	GPC3	COL3A1	ALX3	USP9X	DDX59	PDE11A	CXCR4	B3GAT3	FANCE	MT-ATP6	USP18	UNC45B	HOXA1	ODAD1	COL5A1	SC5D	GUSB	WIPF1	SLC20A2	FANCB	IL12RB1	ARSL	HES7	MT-ND6	IDS	CASZ1	MYOCD	FKTN	IPO8	GATA5	IDH1	WASHC5	F8	PLOD1	RPS24	CFAP300	COL18A1	SPECC1L	GLB1	RPS27	CELA2A	MT-TL1	CCDC65	ARFGEF2	APP	FCGR2C	SMO	MCCC1	RREB1	TBX20	MMP21	BMP2	RIT1	THSD1	DIS3L2	DPM1	WT1	ADAMTS10	ALG12	SMAD6	ASXL2	PLCB3	NDP	F5	AGO2	PRDM16	TGFB2	KNSTRN	C2CD3	RAD51C	ANGPTL6	SERPINE1	MPL	MT-TK	PCNT	KAT6A	SKIC3	GJC2	RAF1	LRPPRC	FANCA	MMP14	PIGO	MED13L	DNAAF5	APOB	SLC2A10	CDH23	ANKS6	SLC37A4	NEU1	CEP120	MESP2	MID1	MT-TQ	ROR2	ENPP1	ZNF148	RET	TNNI3	HCCS	ACTA2	SPTBN1	FGG	EXT2	PKP2	COA6	ABCC6	CYP11B2	OFD1	DOHH	CALR	FOXC1	DGCR8	DNMT3A	ARHGAP31	NIPA2	FN1	TCF4	SCN5A	CLCN7	PTPN22	GMPPB	NFIA	CLCN3	PIGT	MMP23B	F10	TGIF1	POLR1A	DNAI2	AFF4	AKT1	GANAB	CDK8	AMACR	POLA1	EP300	TMEM67	TTC12	ABCG5	ATRX	DNAI1	SNX10	FOXH1	B3GALT6	BSCL2	MFAP5	ERMARD	BRAF	LFNG	SMARCA2	MSX2	SH2B3	PUF60	MYH3	COL1A2	PRKAR1A	SMAD2	P4HA2	RPS7	ABCG8	CCNQ	ANTXR1	RSPRY1	FGA	PNP	ADAT3	F13A1	GLYCTK	PKD2	FOS	ALDH18A1	CCBE1	PLCH1	CBL	DTNA	FBLN5	SPEN	TRIP4	ODAD4	ECE1	SMG9	SKI	TP53	APOE	MYRF	TBX5	HLA-DRB1	RBP4	OCLN	H4C9	CEP57	UQCRFS1	RPL15	PKD1L1	XYLT2	RPL11	CDC42	ALPL	TRAIP	MMACHC	TLL1	ERCC5	NOTCH3	WDPCP	NDUFB11	DHCR7	SYK	GLMN	LUZP1	TALDO1	MYOC	PIK3CD	CFAP298	RSPH1	EED	RFT1	ABL1	RPS10	SCN11A	NPHP3	GATA1	NF1	RSPH9	PRKG1	GTF2I	SLC22A4	PROS1	PIK3C2A	ZMYM2	COL4A1	GP1BA	ZMYND10	PIK3CG	CDC42BPB	NEDD4L	COL5A2	BCR	HTRA2	ATP6V1E1	FAS	TSFM	KAT8	RAB23	CAV1	TELO2	ANAPC7	RIN2	LMX1B	DNAJC30	SUCLG1	SOX2	LRP5	CHST3	SPRED2	ZBTB7A	HDAC4	SEC61A1	APOA5	LOX	GYS1	ARL6IP6	CPLANE1	ARID2	TGFB3	LCAT	PPP1R17	STT3A	DYNC2LI1	SON	CYP27A1	CADM3	TNFRSF13C	NPC1	B3GLCT	PLXNA1	GTF2IRD2	LIMK1	OTULIN	PIGL	RTL1	LEMD3	PLCB4	CDON	MS4A1	TMEM127	TOM1	TMEM270	SMPD1	KANSL1	SEMA4D	WLS	EMILIN1	BICC1	TNFSF12	SIN3A	DCX	GAS1	UBAC2	LIPC	CELSR1	IKBKG	DRC1	ALG9	TPM3	AGPAT2	RBM8A	NLRP3	CHRM3	MKKS	GJA1	SEMA3E	GPC4	C1R	LTBP4	RSPH3	ADAMTS3	SETD2	EHMT1	NPC2	COX7B	RPS28	ZEB2	DOCK6	OBSL1	RBM10	NFKB1	VPS33A	PALB2	CREBBP	CFC1	SPARC	ALMS1	BEST1	CSF2RB	TRIP13	VWF	PIEZO1	GALC	TGFBR1	CFAP221	TFAP2B	FGF10	STAG2	MKS1	MTHFR	B2M	XIAP	ACTC1	DPH5	HEY2	ARID1A	TAB2	TRIO	MT-ND4L	MAD2L2	PRDM13	MMUT	BRIP1	SUPT16H	LIG3	DHCR24	ERCC3	CD19	SDHA	FTO	SRY	GNA11	CASP10	DLL3	FOXF1	PAK2	UBR7	IL12B	CCM2	ABCC9	POLR1D	MLX	INTU	CRB2	SALL1	MCCC2	RBPJ	SLC25A11	PRKCH	FLNC	CTSA	EPAS1	ADAMTSL1	AIRE	LSM11	UMPS	VAC14	BAZ1B	HBB	ZNF687	CACNA1D	ZMIZ1	SEC24C	RPGR	EDN1	APOA1	SH2D1A	GJA8	KLRC4	PAM16	AGXT	ZNF462	CCDC103	CARS1	THSD4	PDGFRB	CCNO	MYD88	ZFPM2	LDLRAP1	ACSL4	ASCC1	APOA2	BUB1	AMER1	FANCC	NDUFA8	TMEM260	SLC12A3	DNASE1L3	NR3C1	DNAJB13	GCDH	TULP1	BGN	QRICH1	STAT1	KIF5A	POLR1C	BCOR	ERCC6	IGF2	CPS1	HYOU1	F7	XYLT1	STAT4	MT-TH	G6PC3	CPT2	MRAS	BCL11B	TP63	CHD4	FOXJ1	DGCR6	OTC	DPAGT1	ODAD2	ZAP70	ERAP1	DLL4	BCL7B	HSD11B2	COL1A1	MAPKAPK5	CRKL	MT-TV	RPL10	RSPH4A	NEK10	CYP11B1	SMC1A	EOGT	SPEF2	ALX4	FASLG	IL6	PORCN	CHUK	ALG3	CD46	SHH	F12	DDX11	SMARCC2	CRTAP	BICRA	RPL18	STRA6	TNFRSF13B	XRCC2	LRP6	RPL31	TBC1D24	TBX2	DGCR2	GAA	BMPR1A	GNAI3	TERT	SLC29A3	GLI3	PRKCZ	LDLR	PLD1	ABCA1	SOX4	DLK1	H3-3A	FOCAD	SDHC	HELLPAR	NFKBIL1	AGGF1	ROBO4	RAI1	BUD23	POU3F4	SELENOI	CD109	MYBPC3	RPS20	TNXB	ITGB3	CWC27	SIX6	RNF213	MT-CO2	SOX10	TTC26	PYCR1	PRNP	DHPS	ADAR	WDR35	CD81	PPP1R15B	SSR4	FMR1	LMOD2	SEC63	ERCC2	JMJD1C	RIPPLY2	TCIRG1	TNFRSF1A	RNU4ATAC	FANCG	CIROP	HRAS	NONO	YY1AP1	PCSK9	CLCN2	ALOX5AP	SMARCE1	CHRNG	DLL1	AASS	ABCD4	NDE1	UBE2T	DIAPH1	CYP1B1	FOXE1	TMTC3	DOCK8	TLR4	TUBG1	STK36	CFH	LRRC56	HSPG2	MNX1	ATP2B1	FH	SMARCA4	SOS2	NKAP	RRAS	CD96	PNPLA2	PCCB	DNAH5	SPAG1	GHR	PACS1	HLA-DPB1	APC2	RPL5	NF2	PDPN	PCCA	CEP19	ATP6V1B2	CLIP2	POLR3F	FIG4	GPC6	RFWD3	SMARCD1	BUB3	CSGALNACT1	NAA20	GAS8	GNB2	MDH2	PRDM6	CFI	IGFBP7	ZIC2	BRCA1	CLCNKB	COLGALT1	MAP1B	ODAD3	PSAP	STIL	MGAT2	PRKACB	COMT	BPTF	FLNB	PBX1	STAT3	WDR26	LARS2	CAT	EXT1	EZH2	HLA-DPA1	DNAAF6	KCNE5	SNRPB	POGZ	KDM3B	TBX4	SOS1	PET100	SHANK3	DACT1	DLST	PAFAH1B1	DNAAF4	IRF2BP2	RPS26	FANCD2	DPM3	RNU7-1	DNM2	LTBP1	WFS1	CIITA	SIK3	SLC39A13	GDF2	GTF2IRD1	YY1	PEX19	TRIP11	TMEM94	SLC19A2	CACNA1C	ACTG1	SLC34A2	CTLA4	NAGS	COL4A2	ADAMTS19	RPL27	ACVR2B	BRF1	UBR1	MECP2	GALNT3	MRPS16	RFC2	SCN9A	DDX6	TBL2	GEMIN4	PPFIBP1	KCNAB2	PRPF3	SIAH1	ALDH1A2	SERPIND1	MAF	PRKCSH	STX1A	STAT2	CYP7A1	DARS1	NOD2	ESCO2	FKBP14	ESS2	TANGO2	NOS3	DCDC2	CUL7	DNAL1	SLC35A2	COG4	IL12A	PEX12	TSR2	SERPINF2	DNAAF3	PRIM1	MCFD2	SF3B2	COG6	POLR1B	CCDC40	RAD21	MMP2	SF3B4	RASA2	ALG5	IVD	TWIST1	FZD4	SNAP29	SMOC1	MST1	MYH6	CCR1	SMC3	SLX4	TPP2	EFEMP1	PLOD3	FANCL	MT-ND2	HPGD	RPL35	PGM1	OTUD5	MED25	IFT140	ALB	CALM3	RAD51	UFD1	FHOD3	SDHAF2
HP_CAPILLARY_FRAGILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAPILLARY_FRAGILITY	CDH23	TP53	ATRX	USP8	NR3C1	USP48	BRAF
HP_ABNORMAL_CAPILLARY_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CAPILLARY_PHYSIOLOGY	CDH23	TP53	FSHR	XPNPEP2	ATRX	USP8	NR3C1	USP48	BRAF
HP_ARTERIAL_RUPTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTERIAL_RUPTURE	PLOD1	FKBP14	COL1A1	COL5A2	COL1A2	PLOD3	COL5A1	COL3A1
HP_ABNORMAL_ERYTHROCYTE_SEDIMENTATION_RATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ERYTHROCYTE_SEDIMENTATION_RATE	NLRP3	CASP10	PRTN3	STAT4	IRAK1	STING1	ANKRD55	IFNGR1	MVK	PSMB8	UBA1	MEFV	PTPN2	ELF4	PSMB4	PRKCD	HLA-DPB1	NLRP12	HLA-DRB1	PTPN22	POMP	ZNFX1	MIF	ADA2	IL10	SPP1	IL37	ARPC1B	CARD10	SLC29A3	CD244	TREX1	IL6	CD247	IL2RB	TGFB1	CIITA	MYD88	IL1RN	HLA-DPA1	LACC1	NOD2	NFKBIL1	COPA	TNFRSF1A	IL2RA	SLC22A4	HLA-B	MTTP	PSMB9	P4HA2	ITK	CTLA4	LPIN2
HP_ABNORMALITY_OF_ENTERIC_NERVOUS_SYSTEM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_ENTERIC_NERVOUS_SYSTEM_MORPHOLOGY	PAX3	PIGN	L1CAM	SOX10	SH2B1	KATNIP	MKKS	FANCB	EDNRB	ASCL1	UBE2T	ECE1	TMEM216	KIFBP	HIRA	PIGY	MITF	NAA10	TUBA1A	KIT	SALL4	SETD2	PHOX2B	SETBP1	ACTG2	PIGV	RET	TOGARAM1	AHI1	EDN3	SREBF1	PIBF1	TBX1	B9D2	ARMC9	ERBB2	BRCA1	DHCR7	SNAI2	ARL6	TCF4	NSD1	GP1BB	CBY1	ZNF423	ARVCF	MKS1	SEMA3D	CEP120	SLC6A8	MBTPS2	ZEB2	FANCF	MYO1H	RREB1	TMEM237	GDNF	RMRP	CSPP1	TYR	PGAP2	SF3B4	CEP104	ATP7A	BDNF	TCTN1	PALB2	COMT	KITLG	NPHP1	CCDC28B	KRAS	CEP290	ARL3	NRTN	BRCA2	SEC24C	TMEM138	FANCM	ABCD1	INPP5E	SLX4	RPGRIP1L	TMEM67	HYLS1	TMEM218	BCOR	PIGW	ERBB3	ERCC4	FANCL	ATRX	TTR	PGAP3	TCTN2	CC2D2A	RAD51C	PIGO	FANCD2	GATA1	APC2	CPLANE1	ARL13B	DDX59	MAD2L2	CEP41	FANCA	JMJD1C	FANCI	FANCE	FANCG	SUFU	ARX	SEMA3C	BRIP1	BBS1	KIAA0586	FOXF1	RAD51	RFWD3	TMEM231	SMO	XRCC2	B9D1	UFD1	FANCC	PIGL
HP_ABNORMALITY_OF_DIGESTIVE_SYSTEM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_DIGESTIVE_SYSTEM_MORPHOLOGY	MT-ND4	ODC1	VPS37D	IFT43	PLCH1	BRCA1	KYNU	LIPA	ZNF699	MINPP1	FAT4	NDUFB11	ALG1	FCHO1	TP53	SIX3	CTNND1	SEC23B	ACTG2	ERBB2	SIX1	RASGRP1	MSH2	GP1BB	ADA2	DYNC2H1	NOP10	ZIC3	ITGA6	WAC	DLL1	RAD51	PIK3CA	FLNA	FGF20	HNF1B	PKD1	ENG	DNAH1	RPS29	SATB2	BRCA2	LBR	LRBA	NOTCH1	RPL35A	PRTN3	CHN1	PIGN	UPB1	NFKB2	HPS1	PGM3	APC	GATA6	FKBP6	BCL10	IL12RB1	RAC2	MKS1	MCIDAS	OTC	ATN1	SMARCAL1	GAS2L2	CHD7	FGF8	SLC11A1	RNF43	CDC73	MPI	MITF	RECQL4	GLI2	ARX	EFL1	ARF1	MAFB	IL12A-AS1	SNAI2	GNA11	TOM1	TEK	IGKC	FGFR1	SOX10	MT-ND5	MYCN	SDHA	CAMTA1	FAH	GABRD	NCF1	STXBP1	ZIC2	PTDSS1	RPL26	NBN	CDKN2A	TCOF1	KRAS	KMT2D	IL37	PKHD1	MYH11	SAMD9	FARSB	UBE3B	CFTR	TTC7A	EFTUD2	SMAD4	ZNF423	PTPN12	SLC10A2	INSR	CDH1	CISD2	MYO1H	FCN3	DNAAF1	PAH	SDHC	RFWD3	SLC7A7	ASXL1	KIT	CCDC22	DVL3	MLH1	DOK7	RHBDF2	NOTCH2	DCC	ATP2A2	EP300	PRKCD	TGFBR2	SPINK5	TMEM237	FLI1	HLA-B	VANGL1	EIF4H	PTEN	CPOX	RET	TCTN2	COL7A1	DYRK1A	MT-TF	NXN	PIGO	CBLIF	AIRE	BRAF	SRCAP	RFX6	SDHD	JAK1	TRAPPC11	PITX2	PTF1A	DISP1	CCDC39	GPIHBP1	ESCO2	IL6	SH2B1	KATNIP	GLRB	STIL	IL10	TNXB	TGFB1	SUFU	PRSS1	STN1	HABP2	F13B	MVK	FGFR2	CTBP1	METTL27	ITGB2	SATB1	ARMC9	NEFH	GLA	GREB1L	STK11	CCDC47	STAT5B	BUB1B	UROS	GLIS3	NME8	EPCAM	ACVRL1	ZFPM2	PAICS	XIAP	GPR35	GON7	GDNF	SPINK1	FBN2	ABCD1	NUP88	EFEMP2	DNAH11	ICOS	IFNGR1	RERE	PIGV	HYDIN	NCF2	EDNRB	CIITA	PEX13	RABL3	RAD21	PDGFRL	MCM6	CYP7B1	SDHB	DNAAF2	MED12	FANCI	MLXIPL	KRT5	PTCH1	POLG	CR2	GDF3	MAPK1	PQBP1	ALG6	FREM1	GBA1	ITGB4	HNRNPK	NUP133	PTRH2	HMBS	CD55	ADAM17	CTRC	LAMB3	MKKS	PEX11B	HIRA	CAPN15	GLRA1	WAS	RPS19	RYR1	MT-CO1	SALL4	IL10RA	CACNA1C	C4A	TOGARAM1	SETD5	SERPINA1	RAD51C	SKIC2	IL23R	DACT1	ARVCF	PALLD	FANCF	COL4A6	NFIX	NEK1	CTC1	SMO	CEP104	AP2S1	PEX2	TYMS	HMOX1	DOCK8	DNAH9	SLC5A1	PPP1R12A	WFS1	TDGF1	DNAAF11	OTX2	LAMC2	MMP1	FANCM	MMEL1	UBE4B	STAT3	MEFV	FERMT1	ALG8	TYMP	PIGW	NODAL	RPS17	DEF6	ACADVL	CBL	DGUOK	ARPC1B	GPC3	CHEK2	PPP2R5D	USP9X	DDX59	EMC1	PDE11A	CXCR4	CD3G	FANCE	IGLL1	POT1	CHST14	CTHRC1	BBS1	SLC51B	GFRA1	ODAD1	COL5A1	RSPO2	GTF2H5	EXTL3	WIPF1	MYLK	FANCB	NHP2	JAK2	CASZ1	IPO8	DYNC2I1	WASHC5	RPS24	AKR1D1	CFAP300	PLG	COL18A1	RPS27	SLC12A2	MT-TL1	CBY1	TBC1D7	CCDC65	ARFGEF2	SEMA3D	LMOD1	RREB1	PARN	MMP21	ALG3	DIS3L2	PHOX2B	ATP7A	FCGR2A	TJP2	SH3KBP1	CEP290	EDN3	FOXH1	CALR	MUTYH	SLC6A8	SOCS1	HSPA9	YY1	CYBC1	SRC	ISL1	HYLS1	PDGFRA	TBX1	PRDM16	TGFB2	C2CD3	IKZF1	ARNT2	TBCE	KAT6A	SKIC3	PEX12	CEP41	NPM1	FANCA	SMARCD1	DNAAF5	SLC2A10	MT-TS2	XRCC4	CEP120	MID1	MT-TQ	NUP107	ROR2	SRP54	ATAD1	SLC6A19	HCCS	PAX3	POU2AF1	PMS1	NPHS1	F5	KIF7	AP1S1	STXBP2	PRF1	EXT2	RTTN	ALAD	CDC45	WRAP53	RFXANK	SLC6A5	SRSF2	OSGEP	CDCA7	SERPING1	SBDS	DMP1	MYC	IRGM	ARHGAP31	LIG3	PEX5	PIGY	AAGAB	TCF4	MSH6	NTHL1	STX3	MMP23B	FGFR3	PPOX	FLNB	TGIF1	TCTN1	BLM	POR	DNAI2	MTM1	ELN	RARB	HLA-DQA1	CDK8	POLA1	FUZ	TMEM67	TTC12	AP1B1	NOD2	SMAD3	DNAI1	PKP1	PIGT	TLR2	ERCC4	ATP8B1	ERBB3	BMPR1A	TTR	SEMA4A	ERMARD	L1CAM	OCRL	PLVAP	MEN1	MYH3	PRKAR1A	SMAD2	LARGE1	RPS7	STX1A	COG8	CCNQ	BAX	ERCC2	PRSS2	IARS1	CASP10	NFKB1	PDGFRB	MYO5B	PHKA2	ALDH18A1	CCBE1	RNU12	TNRC6B	FBLN5	SLC9A3	SPEN	ODAD4	ECE1	AHI1	IL21	SKI	WNT3	PI4KA	ENPP1	MTOR	MYRF	COX7B	HPGD	TBX3	FAN1	PMM2	MBTPS2	CEP57	TINF2	RPL15	GNAS	RPL11	CLTRN	RTEL1	KITLG	SAR1B	SHH	PLCG2	DHCR7	SYK	GLMN	LUZP1	CFAP298	RSPH1	DCTN4	ABL1	AXIN2	RPS10	NPHP3	GATA1	POMT1	STAT1	ARL13B	RSPH9	GTF2I	SLC25A12	ZMYND10	PIK3CG	PTCH2	ALMS1	NCF4	NEDD4L	COL5A2	BCR	FAS	WNT4	ELF4	LIG4	CDON	AK2	MSH3	LMX1B	SREBF1	NEK9	HESX1	IVNS1ABP	KRT18	SOX2	INAVA	ITCH	ZBTB7A	HDAC4	DNAJC21	MDM2	EGFR	TYR	PIEZO2	LRRC8A	TP63	MTRFR	KLF6	SON	GRIP1	PEX14	GBE1	TNFRSF13C	B3GLCT	HSD3B7	GTF2IRD2	LIMK1	PSTPIP1	MS4A1	IGHG2	TMEM270	RUNX1	SEMA4D	TNFSF12	GAS1	UBAC2	POLE	PIK3C2A	ZAP70	PTPN22	DRC1	EWSR1	GREM1	IRF1	B9D1	PIGL	CD79A	FOXP3	LRP2	CHRM3	F13A1	SEMA3E	MTMR14	ASCL1	GPC4	C1R	LTBP4	MEOX1	RSPH3	TERT	ADAMTS3	FRAS1	SETD2	MT-TK	CAMK2A	CDKN1B	IFIH1	VPS51	TCTN3	LONP1	RPS28	ZEB2	XYLT2	DOCK6	ATP7B	PTPN3	CARD8	CSPP1	BDNF	PALB2	DSE	TUBA1A	TWIST2	ABCB11	CFC1	HFE	TRIP13	VWF	PIEZO1	PIK3R1	TMEM218	CFAP221	PTPRJ	B2M	SI	CC2D2A	DLC1	RFXAP	SOX3	REL	POFUT1	MAD2L2	EDNRA	SLC37A4	IL12A	PET117	COL4A5	DCDC2	BRIP1	DHCR24	OPLAH	CD19	MIF	SLC26A3	EYA1	DHODH	CAVIN1	JAK3	LETM1	FOXF1	PAK2	LAGE3	OFD1	NRAS	POLR1D	INTU	SALL1	PLEC	RRM2B	MADD	GRB10	RBPJ	ZBTB24	CDH11	DICER1	SLC26A9	TWNK	IGHM	VAC14	BAZ1B	RPS15A	CCDC28B	SEC24C	WDR73	RPGR	RELA	PEX16	MSR1	FKTN	CCND1	NLRC4	KLRC4	PERCC1	PSPH	WNT2B	CCDC103	PHKG2	CCNO	MYD88	PLA2G2A	BUB1	FANCC	STRA6	BRD4	UNC13D	MBD4	DNAJB13	SLC39A4	COL3A1	KIFBP	POLR1C	PIK3CD	BCOR	HYOU1	STAT4	POLD1	ABCC2	MT-TH	CLCA4	FGFRL1	G6PC3	IRF4	IFT80	CLMP	CHD4	FOXJ1	FANCL	ODAD2	ERAP1	DLL4	PEX6	BCL7B	PNLIP	LMBRD1	NRTN	TPRKB	CREBBP	PEX19	IDS	CTNNB1	CRKL	INPP5E	RSPH4A	NEK10	SIN3A	PEX1	SPEF2	USB1	FASLG	CPLANE1	PORCN	TGFB3	IL10RB	IL1B	SLC46A1	ABCB4	PSENEN	DKC1	COL1A1	BICRA	RPL18	CDKN2C	SUZ12	TNFRSF13B	TMEM231	XRCC2	RPL31	HLA-DRB1	NSUN2	BLNK	ANTXR2	SLC29A3	GLI3	PRKCZ	SETBP1	AMACR	POMT2	DGAT1	MEG3	B9D2	FOXC1	CYBB	FOCAD	MCC	DCHS1	BUD23	STX11	CD79B	RPS20	PGAP2	SLC25A24	CTLA4	NPHP1	MC1R	TMPRSS6	NOTCH3	SIX6	PMS2	TMEM138	WT1	LPIN2	RPGRIP1L	DLEC1	GUCY2C	TTC26	LEMD3	CDK4	APOB	PPP2R3C	SERPINH1	SYT2	AKT1	MLH3	CD81	IL2RA	LAMA3	JMJD1C	PCSK1	TNFRSF1A	LMNA	FANCG	RAPSN	PEX26	MT-CO3	RPS6KA3	WBP11	MAP3K7	MT-ND1	UBA2	EOGT	CHRNG	UBE2T	HNRNPU	FOXE1	TMTC3	RTL1	TCF3	DOCK2	TLR4	STK36	WDR35	FLCN	DZIP1L	SHPK	ACD	HSPG2	MNX1	SPIB	TERF2IP	ZMPSTE24	IKZF3	COX4I2	MASP2	SMC1A	DNMT3B	CEACAM6	MUSK	FREM2	DNAH5	HLA-DQB1	SPAG1	KMT2C	GDF6	GCLC	GMPPA	PACS1	HLA-DPB1	TREH	AGA	ASXL3	HRAS	APC2	BAP1	MT-ND6	PDPN	AR	MTTP	SAA1	CLIP2	FIG4	KANSL1	CPLX1	BUB3	CCN2	NEUROG3	UROD	POGLUT1	GAS8	TMEM216	FH	CARMIL2	GNB2	RAD54B	ADAMTS2	NAA10	CAV1	KCNN4	NSD2	ALG12	ABCB1	NSD1	CENPF	DDB1	MAP1B	IRF5	ODAD3	HELLS	WNT9B	UNC45A	SLC6A14	PLA2G4A	COMT	SMAD7	RMRP	ACOX2	GIMAP5	RIPK1	SLC30A10	KIF3B	WWOX	CBS	EXT1	CDKN1A	DNM2	DPYS	HLA-DPA1	ZPR1	DNAAF6	THOC6	SNRPB	EHMT1	CEACAM3	KIAA0586	RNF6	KDM3B	AMER1	VARS1	TGFBR1	TERC	DCLRE1B	PHGDH	WNT7A	F12	MYOD1	DNAAF4	IRF2BP2	RPS26	FANCD2	LTBP1	SLCO2A1	LCT	KDM6A	PIBF1	HDAC8	ARID1B	MIR17HG	CFAP45	GDF2	PEX3	GTF2IRD1	TET2	CYBA	TMEM94	MAMLD1	PROKR2	CDKN2B	ACTA2	RPL27	SPINT2	GMPPB	BACH2	UBR1	STS	TREX1	CD96	RFC2	RBCK1	WDR4	LZTS1	DDX6	TBL2	RRAS2	DLK1	DYNC2I2	TNPO3	KCNAB2	SEMA3C	TFAP2A	TNFSF15	BIN1	RBM10	RPL5	DNAJC30	MT-TE	LRRC56	NIPBL	RIPK4	FKRP	USF3	STAG2	BTK	DNAL1	HMGA2	SLC2A2	TNFAIP3	TRMT5	MGMT	RBM8A	ARL6	TSR2	CCR6	ADAMTSL2	PYCR1	DNAAF3	SMC3	KIF12	RFX5	PEX10	ELANE	COG6	POLR1B	CCDC40	SF3B4	TWIST1	GSTM3	ARL3	MST1	TP53RK	AURKA	ASCC1	CCR1	MYF6	SLX4	MT-CO2	ATRX	PGAP3	COL14A1	SLC18A3	ITGA8	RPL35	OTUD5	IL1RN	GPHN	ALG9	KEAP1	KLLN	HOXD13	MT-TW	UFD1
HP_ABNORMAL_BRAIN_LACTATE_LEVEL_BY_MRS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BRAIN_LACTATE_LEVEL_BY_MRS	MT-ND4	MT-ND6	MRPS34	MT-ND5	NDUFS2	MT-TH	ECHS1	NDUFB7	MT-TL1	POLRMT	CYP27A1	MECR	NDUFB8	HTRA2	LYRM4	SURF1	KARS1	COX16	MT-CO2	SQOR	SCO2	DNM1L	MT-TS2	NDUFAF3	FARS2	HSD17B10	HPDL	MT-CO3	MT-CO1	SLC39A8	NDUFAF6	MT-TW	LYRM7	MT-TF	MT-TQ	COG8	MTRFR	SUCLG1	VARS2	SDHB	MT-ND1
HP_ABNORMAL_BRAIN_CHOLINE_LEVEL_BY_MRS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BRAIN_CHOLINE_LEVEL_BY_MRS	GALC	NGLY1	CYP27A1	NAXE	PSAP	GRM7	NDUFAF6	CNP
HP_ABNORMAL_BRAIN_N_ACETYL_ASPARTATE_LEVEL_BY_MRS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BRAIN_N_ACETYL_ASPARTATE_LEVEL_BY_MRS	GALC	ASPA	PSAP	GRM7	FARS2	CACNA1G	FBXO28	NDUFB7	SLC35A2	FOCAD	CNP	NGLY1	TBCK	SDHD	SLC25A12	SDHAF1	ATAD3A
HP_ABNORMALITY_OF_OLFACTORY_LOBE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_OLFACTORY_LOBE_MORPHOLOGY	PIGA	EDNRB	PEX1	SOX10	MITF	MKS1	ANOS1	EDN3
HP_ABNORMAL_MEAN_CORPUSCULAR_VOLUME	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MEAN_CORPUSCULAR_VOLUME	MDM4	SLC11A2	HBB	RPS29	SLC4A1	RPS20	DUT	RPS7	RPL27	RPL35A	GLRX5	TINF2	SLC25A38	MTRR	DNAJC21	RACGAP1	RPS26	RPL26	RPS17	RPS24	EFL1	SRP54	MMADHC	GATA1	KIF23	CBLIF	RPS10	RHAG	SBDS	RPL5	TRNT1	TSR2	STEAP3	KCNN4	RPS27	ADA2	RPL35	SAMD9L	RPS28	SAMD9	PIEZO1	NHLRC2	RPS19	TERT	SPTB	RPL15	ABCB6	RPL18	TERC	RPL11	RPL31	LIG1	RPS15A	LPIN2	ANKRD11
HP_DECREASED_MEAN_CORPUSCULAR_VOLUME	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_MEAN_CORPUSCULAR_VOLUME	SLC11A2	HBB	SLC4A1	TRNT1	SLC25A38	STEAP3	NHLRC2	SPTB	GLRX5	LPIN2
HP_INCOMITANT_STRABISMUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCOMITANT_STRABISMUS	UBA2	CSPP1	DNM1L	ARX	MN1	ZMIZ1	COL25A1	CCNQ	SALL4	GJA5	CHN1	MED13	OPA1	HOXA1	KCNN2	KIAA0586	PIEZO2	ACKR3	GJA8	SALL1	MAFB
HP_ABNORMAL_U_WAVE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_U_WAVE	KCNJ5	KCNJ2	CLCNKB	CAV3	SLC12A3
HP_ABNORMAL_QRS_COMPLEX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_QRS_COMPLEX	PKP2	GJA5	JUP	PRKAG2	IRX5	TMEM43	SVIL
HP_ORTHOKERATOTIC_HYPERKERATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORTHOKERATOTIC_HYPERKERATOSIS	DSG1	SERPINB7	PNPLA1	RSPO1	CFTR	SULT2B1
HP_ABNORMAL_CUTANEOUS_ELASTIC_FIBER_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CUTANEOUS_ELASTIC_FIBER_MORPHOLOGY	FBLN5	CYP26C1	ATP6V0A2	ALDH18A1	ATP6V1E1	ELN	LTBP1	EFEMP2	ATP6V1A
HP_FOLLICULITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOLLICULITIS	IL10RA	GJB2	IL17RA	KRT17	IL10RB	XIAP	IVNS1ABP	GJB6	MBTPS2
HP_BLOODY_DIARRHEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLOODY_DIARRHEA	AMACR	WIPF1	ITGB3	SREBF1	TTC7A	ADAM17	FAH	SMAD4	ITGA2	BMPR1A	DAXX	TGFB1	SKIC3	RACGAP1	WAS	HPS1	IL10RA	KIF23	CDKN1B	APC	IL37	ARPC1B	IFIH1	RBCK1	CDKN1A	PLVAP	PI4KA	ACVRL1	SKIC2	ITGA2B	F5	MEN1	CYP7B1	TAOK1	STK11	CARD8	PTEN	EGFR	CDKN2C	GREM1	GP1BA	CD109	CDKN2B	ATRX	ENG	GP1BB
HP_EPIDERMAL_ACANTHOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIDERMAL_ACANTHOSIS	ELOVL1	TGM1	SLURP1	AAGAB	KRT74	JUP	MBTPS2	KRT16	GJB3	ZNF750	NLRP1	DSG1	KRT6C	CLDN1	SERPINB8	GJA1	COL14A1	CSTA	ATP2A2	SERPINB7	DSP	ENPP1	DSC3	WNT10A	KRT1	GRHL2	EGFR	CYP4F22	KRT10	SMARCAD1	POGLUT1	IL1RN	GJB2	NSDHL	KRT9	NIPAL4	ALOX12B	PERP	IL36RN	CIB1	EXPH5	LORICRIN	SLC27A4	AKT1	CDSN	LIPN	CAST	CARD14	KDSR	KRT13	ALOXE3	CERS3	GJB6
HP_EYELID_MYOCLONUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EYELID_MYOCLONUS	RORA	GRIN1	RORB	ATP1A3	DHFR	PLA2G6	SLC6A1	KCNC2	ASAH1
HP_DYSGENESIS_OF_THE_HIPPOCAMPUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSGENESIS_OF_THE_HIPPOCAMPUS	PCDH19	NTN1	SCN2A	DNAL4	SCN9A	GABRG2	MACF1	TUBA1A	KDM4B	TUBB3	GABRA1	DCC	SCN1B	SCN1A	DPYSL5	RAD51
HP_CAPILLARY_MALFORMATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAPILLARY_MALFORMATION	RASA1	DNAJC30	TEK	BCL7B	MLXIPL	PLP1	H19	DVL1	ASXL2	VPS37D	IGF2	NCF1	SMC3	EIF4H	NOTCH1	EPHB4	NAA10	GTF2IRD2	LIMK1	FKBP6	KRAS	GNAQ	PIK3CA	CDKN1C	METTL27	NXN	DVL3	NF1	RFC2	FZD2	ASXL1	LBR	TBL2	EDEM3	NEK9	TMEM270	RBM8A	TGFB3	TRIM37	MTOR	CDK10	MYOC	WNT5A	SLC26A2	GTF2I	FGFR1	PUF60	GTF2IRD1	LTBP2	MED25	DIS3L2	BUD23	CLIP2	SETBP1	CDK13	KCNQ1OT1	CYP1B1	KCNQ1	EIF2AK4	ROR2	STX1A	BAZ1B	ELN
HP_SOUND_SENSITIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SOUND_SENSITIVITY	CREBBP	TMEM270	DNAJC30	PPM1D	BCL7B	MLXIPL	TRIO	EP300	VPS37D	SLC1A3	ESR1	GM2A	GTF2I	NCF1	EDNRA	DEAF1	SCN1A	AUTS2	RAI1	GTF2IRD1	IQSEC2	EIF4H	TNF	BUD23	MFF	CLIP2	GTF2IRD2	LIMK1	FKBP6	FLII	HEXB	METTL27	RFC2	STX1A	BAZ1B	ELN	TBL2
HP_HYPERGRANULOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERGRANULOSIS	DSG1	LORICRIN	PNPLA1	LIPN	KRT1	GJA1	POGLUT1	COL14A1	SDR9C7	CARD14	ATP2A2	SERPINB7	AAGAB	KRT9	ENPP1	ALOX12B	ALOXE3	KRT16	GJB3	CERS3	WNT10A
HP_FETAL_DISTRESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FETAL_DISTRESS	NDUFB10	NDUFS4	ABCC6	NDUFAF2	NDUFS3	ABCD4	CTCF	ATAD3A	CAMK2B	NDUFS7	NDUFS2	IKZF1	NDUFAF8	NDUFAF5	SON	KCNQ5	PLPBP	TTC26	NDUFV1	SLC6A9	IPO8	ALDH7A1	PIGA	NDUFA11	NDUFA6	MT-ND1	NDUFA1	MT-ND3	TIMMDC1	ATP8B1	FOXRED1	TMEM126B	NDUFS6	NDUFAF3	ENPP1	DNMT3A	IL1RN	EMC10	NDUFV2	NDUFS8	AFF2	LMNA	NDUFB9	NDUFB11	ABCB4	NDUFAF4	USP18	NUBPL	NDUFAF1	SPEN	NDUFS1	MT-ND2	OSTM1	RPL11	NDUFB3	EXOSC9
HP_FINGER_SWELLING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FINGER_SWELLING	OCRL	PSMB4	PSMB9	TRAPPC2	MMP2	PSMB8
HP_ABNORMAL_CIRCULATING_ESTROGEN_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_ESTROGEN_LEVEL	POLR3A	ZSWIM7	DMRT3	SMARCE1	FOXL2	ZNRF3	PRKAR1A	TRAF7	WT1	SUFU	DHH	SPIDR	NR5A1	AR	PIK3CA	BAP1	BNC1	TERT	PSMC3IP	KISS1	LEPR	SMARCB1	NUP107	ZFPM2	AKT1	MRPS22	NR0B1	CDKN2A	MCM9	VAMP7	DHX37	NF2	POR	BMP15	POLR3H	GATA4	CYP17A1	SRY	GNRH1	SMO	SEMA3A	TP53	WWOX	FSHR	LEP	SOX9	CTDP1	ESR1	XRCC2	DCAF17	PDGFB	NDNF	LARS2	CTNNB1	STAG3	CYB5A	FSHB	MAP3K1
HP_INCREASED_SERUM_ESTRADIOL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_SERUM_ESTRADIOL	ESR1	POLR3A	AR	TERT	ZNRF3	TP53	CTNNB1	PRKAR1A	CDKN2A
HP_CONSTITUTIONAL_SYMPTOM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONSTITUTIONAL_SYMPTOM	MT-ND4	SDHB	SPINK1	ARSB	LMNA	COL2A1	VPS37D	BAP1	HS6ST2	FOXE3	BRCA1	MFN2	PRNP	UBA1	TERT	MINPP1	NEFL	SPG11	RTN2	ALDH18A1	TNFRSF11B	POMP	FMR1	TP53	THPO	DGUOK	DPYSL5	JAK2	STEAP3	MSH2	SH3TC2	GP1BB	GNAS	MAT2A	IL1RN	CNBP	GUCY2C	DYSF	AIP	IDH1	COMP	MAX	HBG2	BCR	MYH11	SLC3A1	GUF1	NLRP3	POLR3A	TOP3A	CPT1A	KCNE1	RYR2	CARS2	PRKAG2	PGK1	CHMP2B	MYH7	TRPS1	PRTN3	HLA-DQB1	FDX2	HGD	PMP22	CABP4	MAFB	HPS1	MYL2	NLRP12	FKBP6	MGME1	FOXP1	IL12RB1	APC	CCND1	NPRL2	MSMO1	PAX2	PYGM	DDHD2	CDC73	SI	SCN4A	HBB	SLC4A1	IL2RA	HLA-DRB1	GNA14	RSPH4A	NNT	NOP56	BICD2	ATRX	IL12A-AS1	LIPN	GNA11	TEK	TFR2	CRPPA	IGKC	MT-ND5	SLC25A4	SDHA	TNFSF11	SCNN1B	OPA3	NGLY1	ABCC9	VHL	LEMD2	SCN9A	CLPB	CAV3	TSHR	GALNT2	SMARCB1	DDB2	PIGT	KRAS	EIF2AK4	ARSA	PKHD1	ERCC2	MYLK	FARSB	TBK1	HTRA1	CACNA1G	ABCA12	TREX1	RAPSN	KIF1B	GJC2	NR4A2	SQSTM1	SELENON	HEXB	MT-TE	ALDH4A1	PON1	POLR3GL	KIT	BMP2	ALDOB	GNE	DNAJB11	BTNL2	VCP	OTX2	NOTCH2	CCNF	UBAP1	INSR	HLA-B	WRN	PRSS1	VANGL1	EIF4H	SLC2A1	CPOX	AUH	MT-TF	ITGA7	DLL3	ALS2	CD2AP	MAT1A	POMT1	SDHD	ANK1	MRPS2	MC2R	TBX5	HADHA	CASQ1	TRAPPC11	NUMA1	PDCD1	SOX10	VANGL2	TNFRSF11A	ACAD9	TRIO	IDH2	CITED2	ASPRV1	GRHL2	IL6	CDH2	CD28	HBA1	NEK1	ACP5	HPDL	GATA2	TMEM43	SACS	ZNRF3	IL10	SCNN1G	COL9A2	TNXB	UNC13A	RACGAP1	HABP2	LDB3	MVK	EMD	METTL27	CD244	COQ2	NDUFS4	CEBPE	GLA	LRP5	TONSL	STK11	GJB2	POLR3B	ARHGDIA	SLC18A2	TNFRSF1A	PLEKHM1	GABRG2	GCK	RET	MEF2A	ERBB2	GLE1	PDGFB	PRKAR1A	CRB2	EYA4	NUP37	TICAM1	GPR35	SMAD3	GFAP	GCSH	NOTCH2NLC	NCF1	GDNF	MLH1	MYH3	ABCD1	SBF1	ICOS	COL8A2	CDKN2A	ANKFY1	IFNGR1	GLI2	CCDC78	FUS	KLF1	PPARG	SPP1	RABL3	HACE1	RAD21	MCM6	DNAJB6	SLC34A1	MED12	SDHC	RASA1	MLXIPL	RARA	PROC	POLG	COL17A1	CR2	TGFBI	MAPK1	CDH23	SLC9A6	ENG	ASAH1	REST	TIMM50	BMP6	LPIN2	HNRNPA1	FSHR	HMBS	NAXE	CD55	CTRC	NABP1	HIRA	RYR1	ATP5F1D	MT-CO1	TSC1	C4A	SLC1A4	FLT1	FKRP	TET2	IL23R	NLRC4	BCL11A	PNPT1	CFAP43	ARVCF	PALLD	UBQLN2	TAFAZZIN	COL4A6	NPPA	FRMD5	RRM2B	BIRC3	KCNE2	CRLF1	EPCAM	SOST	AP2S1	NEXMIF	SRP54	CYSLTR2	STIM1	KMT2B	GALC	MYOT	CALM3	MEN1	NFKB2	TPM3	ESR1	MMP1	MMEL1	DMPK	RNF168	MEFV	TYMP	ACADVL	TTR	CBL	MATR3	ADA2	MESP2	ALG10B	ALAS2	AKAP9	PPP2R5D	CFTR	RIPK1	HESX1	ABCB4	TSPOAP1	EHHADH	ATP8B1	RNASEH1	SLC34A3	IGLL1	TK2	POU1F1	JAG1	C9orf72	LRIF1	PRDM8	UNC45B	TBL1XR1	SPTB	MDM4	IRF2BP2	WIPF1	SLC40A1	CTSK	SLC20A2	HSPD1	NKX2-1	TCF4	PSAP	ATXN2	COQ8A	F8	TNNI3	DNA2	COQ7	STAT5B	SLC11A1	MT-TL1	SCN5A	SEMA3D	SMO	MMP2	CHEK2	DMD	ATP13A2	EXT1	ALOX12B	RREB1	GCGR	WT1	TCIRG1	CLCN7	ATP7A	HSPG2	CYP19A1	KBTBD13	KPNA3	ARMC5	CALR	LMNB1	MAGI2	ISL1	PDGFRA	TBX1	NUP205	TGFB2	TXNRD2	IKZF1	OVOL2	CPA1	ARNT2	TPM2	MPL	XPC	WAS	TGFBR2	CYP27B1	FARSA	LACC1	MME	CTNNB1	MYPN	TRPC6	GBA1	SLC2A10	SCARB2	MT-TS2	TNNC1	BCOR	MT-TQ	ENPP1	MT-CYB	NSDHL	POU2AF1	ATL3	F5	CSRP3	SPTBN1	COL13A1	CALM1	COL11A2	JUP	DES	BRCA2	ZEB1	CACNA1H	MORC2	EXT2	PKP2	ISCU	EDNRB	ALAD	FA2H	DSG2	SRSF2	EDN3	POLE	COL9A3	SERPING1	DMP1	MYC	PROP1	COQ8B	LIG3	NOD2	STUB1	TSPYL1	LPIN1	PNPLA2	PIGY	AAGAB	LBR	CCL2	MSH6	PTPN22	APRT	GMPPB	PANK2	STAR	MATN3	PPOX	SCN8A	ELN	SVIL	HLA-DQA1	ATL1	AKT1	CLCF1	FUZ	IL18BP	ABCG5	GPD1L	IRAK1	CACNA1C	IFT57	RB1	RBM20	WASHC5	MYLK2	SNX10	MLIP	SOD1	ERBB3	BMPR1A	KIF5A	TBX18	SEMA4A	MFAP5	HBA2	ATP7B	THRB	DAO	ANK2	GYPC	YARS2	AMPD1	MYH6	SH2B3	SIGMAR1	COL1A2	GPR101	P4HA2	FOXE1	FOXA2	SYNJ1	UNC93B1	AMPD3	ABCG8	AMT	KCNJ5	TRDN	TREM2	PRSS2	NUP155	MOCOS	CTLA4	CHST6	MYOZ2	PKD2	COG5	SLC44A1	RNF170	CHRNA4	PHKA2	HPGD	SOX3	DTNA	TBC1D8B	TNFRSF1B	SLCO2A1	SLC26A2	IL21	KCNC3	STX16	TRHR	GFI1	FAN1	PODXL	DKK1	PSMB9	HFE	TBX20	ANO5	ACTC1	ERCC3	GBA2	ACADM	CHRNB2	MIEF2	TLL1	GAPVD1	PLCG2	PSMB8	SYK	CFAP410	ZC4H2	LHX4	TBCD	KIF23	YY1	RAD51	POU6F2	PIK3CA	ZFYVE26	FLVCR1	NF1	SLC25A13	STAT1	SPTA1	NKX2-5	GTF2I	TAB2	GLT8D1	SLC22A4	PROS1	PIEZO1	ZMYM2	NKX3-2	SERPINA6	ELANE	PIK3CG	KCNQ1	ALMS1	COL5A2	SLC39A14	TRPA1	TRIM32	ELF4	TLR3	GNPTG	TBX19	CLCN1	COL4A3	SREBF1	XPA	IVNS1ABP	ORAI1	DMGDH	FLAD1	FN1	ATP13A3	KRT17	TECRL	HBG1	KRT16	GYS1	LRRC8A	FHL1	VSX1	GJB6	PKDCC	TGFB3	LDHA	CASK	OPTN	ERCC4	SURF1	SMAD4	KL	NAB2	TNFRSF13C	GTF2IRD2	PHEX	LIMK1	LAMP2	OTULIN	LEMD3	MIF	LRIG2	MS4A1	IGHG2	TMEM270	LPL	RUNX1	SEMA4D	BICC1	BCL10	TNFSF12	SIN3A	POLG2	PHKB	PRKRA	NUP160	UBAC2	PYGL	TGFB1	GHSR	EPOR	SLC4A11	SCN1B	SHQ1	PRKCSH	HEPHL1	EWSR1	TRAPPC2	ALG9	CD79A	PMS1	CHCHD10	ZFTA	DEPDC5	MTMR14	C1R	ECE1	STAT6	DNMT3A	MT-TK	NIPA1	PRPH	CDKN1B	ASXL1	ATXN8OS	SMAD2	SFRP4	C1S	AGK	FMO3	DCC	CPT2	ZEB2	FTL	SEPTIN9	COL10A1	PTPN3	CARD8	NFKB1	HAVCR2	WNT3A	MYO1E	PRDM5	CALM2	ANTXR2	ERBB4	CPT1C	ABCC6	PIK3R1	TGFBR1	PTPN2	RIN2	B2M	SLC26A4	BVES	NPHS1	PHKA1	SCN4B	HNRNPA2B1	KIF7	DPH5	SULT2B1	HEY2	LHX3	ACTN4	IL12A	TRIP13	COL4A5	MMUT	PON3	PKD1	COL9A1	GNAI2	OPLAH	CD19	SDR9C7	GATA4	CAVIN1	MAN2B1	DNMT1	IGHMBP2	GATA6	PAX8	SELENBP1	TLR7	DNAJC6	SLC12A3	TREH	PFN1	UBR7	IL12B	MLX	SF3B1	COL3A1	MYO1H	NUP93	TARDBP	FLI1	ENO3	PFKM	SLC25A11	EPAS1	STAT3	KRT14	DPP6	SPAST	TRIM28	FLNC	ATXN10	MAPK8IP3	BAZ1B	TRPV4	ZNF687	CASQ2	SEC24C	DCTN1	SMPD1	DAXX	PREPL	DNM1L	CRH	FGF13	SCN1A	FERMT3	KLRC4	NPRL3	TWNK	PDGFRB	PHKG2	ASPN	FGFR1	SNTA1	MYD88	COL5A1	WNT1	PRKCD	ERCC5	PTH1R	GBE1	RNU4ATAC	DNASE1L3	NR3C1	HYAL1	TYROBP	GCDH	ANLN	TSHB	TBXT	ANKH	LMNB2	MALT1	KCNH2	ACTA2	STAT4	SLC18A3	H19	ABCC2	MT-TH	EPB42	KCNN4	NPHS2	NEB	PTPRO	SLC22A12	IRF4	OTC	RETREG1	ERAP1	HS3ST6	BCL7B	NRTN	KY	COL7A1	CRKL	INF2	AP5Z1	DIS3L2	TBP	FITM2	CPLX1	COL11A1	PORCN	CD46	TTN	CHRNA2	COL1A1	MSTO1	SLC25A26	TPM1	CDKN2C	CACNA2D1	TNFRSF13B	LRP6	KLHL41	KRT6B	MYL3	GLDC	GAA	PALB2	C1QBP	FGF23	DNAJC19	EPB41	G6PD	PNPLA8	LDLR	SGCD	DGAT1	SPG7	ALDOA	CEL	SOX2	KCND3	PTEN	GPC3	NPM1	HELLPAR	NFKBIL1	BUD23	CD79B	RPS20	ALOXE3	NIPAL4	JRK	MYBPC3	CORIN	NDUFAF6	FAR1	PMS2	PIGA	HINT1	DLEC1	MT-TN	CTNS	HNF4A	RELA	MLH3	ARX	CD81	SEC63	COA3	JMJD1C	COPA	ACAT1	NUP133	DDIT3	SALL1	MT-CO3	LMX1B	PCSK9	KRT5	HPSE2	MT-ND1	SMARCE1	FIP1L1	FKTN	TCF3	GATM	TLR4	BNC2	CFH	TSC2	SYNE1	COX6B1	CASR	MNX1	SPIB	FH	HMGCL	TNNT2	FBN1	AGBL1	GRM1	PHIP	MTX2	IGHM	LOX	ERLIN1	GABRB3	SPTLC1	PON2	RSPH9	FARS2	PIGF	HLA-DPB1	SCNN1A	KIF11	HRAS	TP63	MT-ND6	NF2	ABCA1	TGM1	MTTP	SAA1	IMPDH2	KCNJ2	CLIP2	HACD1	SCN11A	TAF15	VWA1	ALB	CYP2R1	PML	TRPM4	PUS1	SLC2A9	OPA1	BLNK	CCN2	MLYCD	TMEM127	CARMIL2	GNB2	CLCN5	NR1H4	MDH2	FIG4	CAV1	DSE	MRAP	PGAM2	NOS1AP	BCL6	CLCNKB	SLC25A32	KCNT1	APOB	CHST3	IRF5	TRAF3	PEX11B	UNC45A	COMT	RSRC1	REEP2	SLC4A3	UFSP2	GIMAP5	NOTCH3	LRP1	GNAQ	TRAF7	NTRK1	CCN6	NUP107	CAT	HARS1	C19orf12	ABL1	CDKN1A	CAPN1	PLEC	PRKG1	DNM2	UQCRH	ACTA1	HLA-DPA1	ATXN3	PPA2	MTHFD1	EPHA4	DACT1	VDR	BSCL2	DLST	CD247	MAP3K20	ATM	CYP4F22	LDLRAP1	F12	DSTYK	SPTLC2	CAPN3	CLDN16	MITF	DPM3	MT-ATP6	PPARGC1A	SYNE2	CIITA	SCN10A	GTF2IRD1	DBH	NTN1	BCS1L	PROKR2	CDKN2B	SLC34A2	NOS1	ABCB11	NAGS	WWOX	ADAMTS19	EMP2	COL12A1	STING1	ANKRD55	APOL1	IDUA	TH	RFC2	RBCK1	TBL2	IL2RB	ZNF469	CFI	MET	ANXA11	TNPO3	POMGNT1	SEMA3C	NEFH	TNFSF15	BIN1	PRORP	STX1A	DNAJC30	BCL2	EIF2AK2	VAPB	PTPN11	ZBTB16	ANG	BTK	GABRA1	KRT6A	DSP	ACTG2	TRMT5	GANAB	PLCE1	CCR6	SERPINF2	MMADHC	HOGA1	PSTPIP1	ZMPSTE24	GCH1	AGXT	ALG5	MST1	RNF6	NUP85	CCR1	MYF6	SUFU	DSC2	MT-CO2	POLR2A	PSMB4	COL14A1	DDRGK1	PLN	STOX1	HADHB	COPB1	PGM1	PLP1	IFT140	DNAL4	TBX6	TMEM126B	ACSF3	ADNP	CYP7B1	MT-TW	UFD1	ARHGAP24	FAS	FHOD3	SDHAF2	DAAM2
HP_CHILLS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHILLS	TICAM1	TRAF3	GYPC	ANK1	TLR3	TBK1	SPTA1	SPTB	EPB42	UNC93B1	SLC4A1	HADHA	NLRP3	HAVCR2	PKHD1	MVK	EPB41	HADHB
HP_ABNORMALITY_OF_HEPATOBILIARY_SYSTEM_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_HEPATOBILIARY_SYSTEM_PHYSIOLOGY	UNC13D	CYC1	F13A1	IARS1	IFT122	FAH	ACAD9	LIPA	JAK2	CPT2	MT-ND1	TJP2	F13B	TERT	SLC25A20	TRMT10C	HFE	ATP6AP2	ALG1	CEP164	AKR1D1	INPP5E	MT-ND5	FECH	ASXL1	CCDC115	VPS51	SLC25A15	QRSL1	EPM2A	NDUFS4	SPIB	NDUFS2	SLC39A8	NHP2	HMGCL	NDUFB8	UQCRC2	GDF2	CCDC47	PEX3	H4C3	HLA-DRB1	OCLN	COX16	ATP7B	NOP10	PARN	OSTM1	PEX19	STXBP2	HADH	TFAM	TINF2	SMAD4	BCS1L	RINT1	JAG1	RTEL1	POLG	FH	ACVRL1	ACADM	PEX6	NAGS	CPT1A	GPR35	HSD3B7	RNU12	CALR	HLA-B	BLVRA	SLC30A10	SCYL1	RMND1	FBP1	UBR1	DDOST	MRPS23	PEX1	IKZF1	XIAP	GFM1	MT-ND6	PCK2	IL12RB1	USB1	CTC1	MT-TT	SKIC3	PEX13	MT-ATP6	PORCN	DLD	OTC	ALG3	NHLRC1	CYP7B1	IFT172	MT-ND4	COA8	MED12	NPM1	LRPPRC	MRM2	TNPO3	HBB	IL12A	MARS1	MPI	SCO2	PEX2	LARS1	DCDC2	GALT	ACTG2	MRPS7	TNFSF15	CC2D2A	RYR1	TMEM67	ATRX	ASAH1	SC5D	NR1H4	POU2AF1	ALMS1	MT-ND2	BMP6	F5	IL21R	PRF1	PEX11B	COQ2	WRAP53	COG2	PEX12	PEX26	PNPT1	AMACR	TMEM199	FARSB	KRT18	DKC1	SMPD1	FOCAD	PIGA	COG4	ITCH	PEX5	PEX10	SURF1	TCF4	GATC	SLC2A2	NDUFAF3	TET2	PTPN22	STX11	MT-TV	SP110	IRF5	MT-TK	SLC7A7	COG7	TYMS	PARS2	GANAB	LIPT1	ALDOB	DGUOK	IL18BP	MST1	MICOS13	PEX14	RPGRIP1L	MMEL1	CACNA1S	ABCD3	PEX16	DAXX	GBE1	ALG8	NPC1	GALM	LARS2	MT-TW	MT-TN	DEF6	SH2D1A	MT-TL1	ZNFX1	CBL	MPV17	MT-ND3	FADD	HADHB	RUNX1	SEMA4D	LYST	ENG	HADHA	MEFV	P4HA2	SRSF2	BAAT	TRMU	BTNL2	SERPINA1	GBA1	EIF2AK3	NBAS	PCK1	POLG2	TERC	TALDO1
HP_HYPERAUTOFLUORESCENT_RETINAL_LESION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERAUTOFLUORESCENT_RETINAL_LESION	ARL6	IDH3A	BBS1	TLCD3B	EFEMP1	KIF3B	CFH	GUCY2D	POMGNT1	GUCA1A	CFI	KIAA1549	PRPH2	ARSG	CFAP418	CCDC28B
HP_HYPOAUTOFLUORESCENT_RETINAL_LESION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOAUTOFLUORESCENT_RETINAL_LESION	CFH	RPGR	CFI	TLCD3B	EFEMP1	CWC27
HP_ABNORMAL_TEMPER_TANTRUMS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TEMPER_TANTRUMS	MAGEL2	TLK2	FMR1	PACS1	WARS2	SNRPN	KAT5	TUBB2B	CLCN3	CTCF	CNTNAP2	SRCAP	OCA2	TAOK1	NDN	SCN8A	TACO1	GNAI1	SETBP1	PPP2R5D	USP7	ADNP	SIM1	CTNNB1	DPF2	ARPC4	GBA1	RSRC1	SATB2
HP_FREQUENT_TEMPER_TANTRUMS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FREQUENT_TEMPER_TANTRUMS	TLK2	SETBP1	ARPC4	KAT5	TAOK1	CLCN3	SATB2
HP_SEVERE_TEMPER_TANTRUMS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_TEMPER_TANTRUMS	SCN8A	TACO1	GNAI1	WARS2	DPF2	RSRC1
HP_ABNORMALITY_OF_OPTIC_CHIASM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_OPTIC_CHIASM_MORPHOLOGY	DYRK1A	LETM1	OPA1	ALDH1A3	UCHL1
HP_LEFT_VENTRICULAR_DIASTOLIC_DYSFUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEFT_VENTRICULAR_DIASTOLIC_DYSFUNCTION	ALPK3	ZMPSTE24	PRDM16	ADAMTS19	LMNA
HP_LEFT_VENTRICULAR_SYSTOLIC_DYSFUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEFT_VENTRICULAR_SYSTOLIC_DYSFUNCTION	SCN5A	PRDM16	ABCC6	SLC25A4	MYH6	LAMA4	CSRP3	MYH7	ABCC9	RBM20	LAMA2	FKTN	COA6	NEXN	DES	TTR	DYSF	B2M	RPL3L	ACADVL	PSEN1	SGCG	RAF1	SGCD	TTN	RRM2B	LMOD2	POMT2	VCL	DSG2	BAG5	PSEN2	POLG2	TNNT2	TNNI3	LMNA	NPPA	ZMPSTE24	AARS2	TWNK	CRYAB	SDHA	POLG	SLC6A6	PPCS	ENPP1	GTPBP3	SDHD	FHOD3	GATAD1	MYBPC3
HP_HONEYCOMB_LUNG	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HONEYCOMB_LUNG	STN1	SFTPC	FAM13A	SFTPA2	TERC	ATP11A	PARN	SFTPA1	ABCA3	TERT	RTEL1	DSP	DPP9	MUC5B
HP_BILATERAL_TONIC_CLONIC_SEIZURE_WITH_GENERALIZED_ONSET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_TONIC_CLONIC_SEIZURE_WITH_GENERALIZED_ONSET	PTEN	TSEN2	SCN2A	PCYT2	SCN9A	EFHC1	NEXMIF	TMX2	UBE3A	GRIN2A	ASAH1	GABRA5	CILK1	JRK	CHD2	SCN1A	COQ5	GAD1	KCNQ3	VPS53	CPLX1	PCDH19	NARS1	TBC1D24	PURA	TSEN34	CACNB4	TSEN54	GABRG2	CLCN2	SYNGAP1	SLC6A1	GABRA1	SLC9A6	TSEN15	SCN1B	SEPSECS	ADGRG1	GBA1	AP2M1	EXOC8	COX8A	GABRD	SLC2A1
HP_ABNORMAL_CIRCULATING_APOLIPOPROTEIN_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_APOLIPOPROTEIN_CONCENTRATION	APOC2	MTTP	CCT5	ATP6V1E1	ABCA1	LPL	ATP6V1A	APOA1	ATP6V0A2
HP_PARASOMNIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARASOMNIA	CHRNA2	TFAP2B	SIM1	CABP4	MAGEL2	CHRNB2	DEPDC5	CHRNA4	SLC25A13	KCNT1	CRH	SMO
HP_SOMNAMBULISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SOMNAMBULISM	CHRNA2	CABP4	CHRNB2	DEPDC5	CHRNA4	KCNT1	CRH
HP_CONFUSIONAL_AROUSAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONFUSIONAL_AROUSAL	CHRNA2	SIM1	CABP4	MAGEL2	CHRNB2	DEPDC5	CHRNA4	KCNT1	CRH
HP_CUTANEOUS_CYST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTANEOUS_CYST	KRT6B	MSX2	POFUT1	APC	PSENEN	ALX3	KRT17	POGLUT1	SYT1	KRT5	VANGL1	CEP57	KRT16	TSC2	IFNG	ANTXR1	CDH1	TSC1	TFAP2A	KRT6A	ZSWIM6	CTNND1
HP_DERMOID_CYST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DERMOID_CYST	ALX3	ZSWIM6	MSX2	SYT1	TFAP2A	VANGL1
HP_STIFF_NECK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STIFF_NECK	COL2A1	NDE1	DKK1	NEK9	NDUFS3
HP_SNORING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SNORING	GNAI3	EDN1	HEPHL1	AHDC1	PLCB4	GPR101	GUSB
HP_STUTTERING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STUTTERING	MT-ND4	MT-TS2	MT-ND6	KANSL1	MAPT	CHD3	SCYL1	MT-ND5	MT-CO3	MT-TH	MT-CO1	MT-TL1	LAS1L	NEXMIF	MT-TW	NSD1	MT-TF	HEXB	MT-TQ	AP4E1	MT-CO2	MT-ND1
HP_PANIC_ATTACK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANIC_ATTACK	PODXL	SDHB	CREBBP	GABBR2	CDKL5	ATRX	VHL	ZNRF3	PRKAR1A	USP8	NTNG1	KCTD17	DRD2	TMEM127	TERT	SNCA	MDH2	DNMT3A	SGCE	CDKN2A	PRKN	HTRA2	RET	UCHL1	TP53	SPECC1L	NF1	SDHD	SPART	FH	BRAF	PARK7	SDHC	TOR1A	LRRK2	SLC25A11	EPAS1	NR3C1	SMC1A	CDH23	KIF1B	MAX	DNAJC6	USP48	SDHA	PINK1	VPS13C	SYNJ1	MECP2	CTNNB1	KCNN2	DLST	SDHAF2	EP300	CIZ1
HP_ABNORMAL_ESOPHAGUS_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ESOPHAGUS_PHYSIOLOGY	AMPD2	CHCHD10	FGF8	TFG	ZIC2	SEMA3E	SPG7	VPS37D	BAP1	CTCF	ASCL1	EEF1A2	PLCH1	LRP12	ARHGAP29	NEFH	SERPINA1	SNCA	TGIF1	LTBP4	ZNF699	GABRA5	CHRNA1	SPG11	MT-ND1	OPA1	NODAL	SETD2	EHMT1	ALDH18A1	LMOD3	RET	CDKN1B	KLHL7	DGUOK	NPC2	NDUFAF2	DPYSL5	SIX3	ATXN8OS	EDEM3	SYT14	STN1	AAAS	PLA2G6	GP1BB	GNAS	ASAH1	MYH8	NTRK2	PUS3	ZEB2	IARS2	ATP7B	PDGFRA	KCNQ3	DLL1	SPOP	SKI	PMP22	TAF1	POLG	HOXB1	ZBTB18	CREBBP	NRCAM	TOP3A	STAG1	SATB2	H3-3B	CACNA1A	CARS2	GBA1	COQ2	PIGN	PIEZO1	MECR	FGFR3	WARS2	YWHAG	KAT6B	GALC	ERCC8	FGF10	TSEN54	SCUBE3	MACF1	MYL2	CLTC	LONP1	FKBP6	SOD1	C9orf72	FLII	MGME1	MECP2	NCAPG2	MT-ND6	KMT2A	CHRNE	DPH5	NECTIN1	MT-ATP6	CSPP1	SPATA5	PYGM	TRIO	UBA5	KLHL41	ATN1	ANXA11	DDHD2	CDC73	EDNRA	CHD7	EBF3	SOX5	CYP7B1	RAI1	SLC11A1	WAC	GNB1	CDON	KIT	PRDM13	GLI2	COL4A5	SUPT16H	LIG3	NOP56	IDH1	SPEN	ARF1	SFTPA1	GABRA2	MIF	EXT2	ABCA3	CAVIN1	MAP2K2	STAC3	REPS1	SLC1A3	RAD21	VPS35	PCGF2	RHBDF2	LETM1	FGFR1	NUP214	SLC25A4	TANGO2	SDHA	CAMTA1	SLC52A3	NGLY1	SRPX2	GABRD	VAMP1	STXBP1	MAPT	TOR1A	TBK1	SCN3A	MEIS2	CHAMP1	TGM6	DNAJC13	FOXG1	SALL1	ATP1A3	SYT1	MUC5B	MYO1H	MYH11	SAMD9	TCF4	NR4A2	FARSB	RRM2B	TSEN2	ALS2	REEP1	SLC9A6	MADD	FCSK	SLC25A1	ATP11A	GRB10	CACNA1G	AOPEP	RYR1	OPTN	SURF1	SLC26A9	APOE	COLQ	SRCAP	FMR1	ATXN10	SELENON	TBX1	ATXN1	PLXND1	SDHC	MAPK8IP3	ALDH4A1	HCN1	COG7	SQSTM1	ASXL1	BAZ1B	CCDC22	MRPS25	SLC35A2	SEC24C	SLC52A2	PIEZO2	MYH2	SON	FOXH1	PGM3	SLC19A3	POLR3A	EIF4H	SHANK3	NDE1	MSR1	DNM1L	GCH1	SPTAN1	SMC1A	SHH	ATP6V1A	SLC13A5	COL7A1	CAV1	DYRK1A	PTS	IRF6	ITGA7	DSP	PSPH	BRAF	TWNK	COQ4	KCNH1	TGFB1	SDHD	ARV1	SPART	IRF5	KIF5A	FBXW7	MAGEL2	ELP1	HNRNPH1	TRAPPC11	SYT2	STUB1	FLCN	GRM7	ASCC1	FZR1	SYNJ1	COL5A1	PNKD	PARN	DISP1	GRM1	FLVCR1	IDH2	XRCC1	ARNT2	ATP7A	BRD4	UBE3A	HLA-DQA1	PPM1D	CPSF3	GDAP2	GLRB	STIL	MATR3	TERC	HPDL	SCN8A	GCDH	SACS	CENPT	QDPR	GRHL3	MEGF10	PRDX3	NECAP1	MYMK	MAP3K7	TIMM8A	ERCC6	FGF13	CTBP1	TTBK2	METTL27	MT-ND5	MBD5	CNTNAP1	SYNGAP1	SATB1	TUBB6	PSAP	UBTF	GLA	CLCA4	FAM13A	FGFRL1	DHDDS	NEB	CCDC47	ADAR	PI4KA	GLUD2	FBXO7	FGF12	FTL	PEX1	SLC5A7	AP3B1	SCARB2	GRIN2D	EXOSC5	CHMP1A	PDE8B	BCL7B	SLC46A1	SETX	GON7	KY	HLA-B	NCF1	TRIP4	RPL10	POLR3B	ABCD1	NF1	SLC6A9	TBP	RERE	ADD3	PFN1	FUS	PPP3CA	ATXN2	TRAPPC6B	ACTB	ARCN1	PORCN	CLN3	HRAS	DNAJB6	HDAC8	PAX7	SDHB	GABRB2	LYRM4	MLXIPL	ATP1A2	COL1A1	MSX1	TPM2	KIF1A	BICRA	HEPACAM	CDKN2C	HGSNAT	NUP62	TBC1D24	SH2B1	ATRX	KCNA2	PLAA	RARS1	SPG21	DMPK	ERLIN2	HLA-DQB1	CEP85L	SLC18A3	DTYMK	RILPL1	HIRA	ZFYVE26	GLRA1	CHRND	HSD17B10	MPZ	DDOST	DYSF	ADCY6	PRKCZ	SETBP1	CACNA1C	VRK1	SLC1A4	TARDBP	NSRP1	DCTN1	H3-3A	POR	MED17	WASHC5	ARVCF	CLCN4	PUF60	ALG2	ORC1	GNB5	FGFR2	COL4A6	TDGF1	BUD23	SNAP25	WWOX	ACTA1	MT-TK	PYROXD1	NEXMIF	SLC25A24	CDC6	FLNA	KMT2B	RELN	HMOX1	KCNB1	GUCY1A1	KATNB1	LAMB2	LIFR	PIGA	TPM3	MMP1	NSD1	UBE4B	STAT3	FERMT1	GAS1	TTC26	MT-TW	TYMP	PYCR1	PRPH	HTRA1	ACADVL	PEX16	MT-ND3	SSR4	MFF	CFTR	SEC63	CYFIP2	ORC4	JMJD1C	RNASEH1	LMNA	RNU4ATAC	TK2	ORC6	PTCH1	CLN8	JAG1	DLX4	CTHRC1	ZSWIM6	UNC45B	NONO	UBQLN2	SEPSECS	CHRNA3	ATL1	NDUFA9	NACC1	AASS	HLA-DRB1	ABCD4	FBXL4	HTT	ARSL	DEAF1	DNM1	KCND3	TMTC3	CASZ1	FBN1	CACNA2D1	CDK19	IPO8	TRMT10C	FBXO28	GNAO1	KIAA0319L	IL7R	CTNS	DHCR7	HSPG2	GLB1	SLC12A2	TIMM22	ARFGEF2	NDUFB8	TBC1D23	ATP13A2	CCN2	RREB1	KAT6A	PDP1	ACTL6B	PANK2	CEACAM6	LRRK2	PHIP	TYMS	GRIN1	PHOX2B	HPCA	VCP	MED12L	KBTBD13	GFPT1	USP9X	KMT2C	TP63	VAPB	LMNB1	DST	PAK1	YY1	FIG4	GFAP	SPTLC1	FRG1	AGO2	CHAT	MYOT	GCLC	TRAPPC12	PRDM16	GMPPA	KNSTRN	FARS2	FA2H	NALCN	SRD5A3	CDH1	IKZF1	TUBB4A	KIAA0586	ACOX1	ASXL3	CYP27A1	DPP9	POLG2	PABPN1	NF2	RETREG1	APC2	BMP4	HFE	PDPN	SCN4A	LRPPRC	MYPN	SLC2A10	SCO2	ATP6V1B2	CLIP2	HACD1	DAB1	SLC37A4	GJB1	PLP1	MID1	ATAD1	ATL3	NPHS1	CPLX1	SLC25A22	UBB	MYO9A	GBA2	SLC38A3	COL13A1	ADH1C	SPTBN4	PRUNE1	NDUFS3	ASPA	CARMIL2	GNB2	CCR6	ADAMTS2	EPRS1	SLC6A5	KCNN4	GMNN	NSD2	POGZ	ALG12	AFG3L2	PACS1	CRYAB	ATP6V0A1	MYORG	KCNK9	PSEN1	HEXB	REV3L	DDB1	TSPYL1	MAP1B	GIGYF2	LBR	NDUFAF3	TSEN34	MT-TV	CDK13	AARS1	MGAT2	MMP23B	TRAK1	SLC6A14	EIF4G1	BLM	COMT	AFF4	ELN	ANKRD11	SLC6A3	SFTPC	EP300	NOTCH3	HMBS	MCEE	WDR26	NTRK1	PIGT	CRLF1	OCA2	NAA10	C19orf12	RNF125	ERMARD	EXT1	CDKN1A	RLIM	OCRL	GNAQ	MEN1	NDUFA6	YARS2	ATXN3	MYH7	B4GALNT1	CELF2	SIGMAR1	SNRPB	CEACAM3	TBX4	STX1A	AMER1	VARS1	DLG1	CLCN1	KLHL40	EIF5A	PHGDH	ADAT3	PRPS1	MAP3K20	FXN	ITCH	GLYCTK	AFF3	CDKL5	RTEL1	HIVEP2	SLC44A1	SPTLC2	RNF170	CACNA1B	PLEC	SLC9A3	MT-TT	ECM1	HPRT1	SMG9	KCNC3	AP3B2	WFS1	CNKSR2	NDUFS2	APP	GTF2IRD1	MINPP1	PRKRA	GNS	PRKCG	DKK1	KCNQ2	SMARCA2	TMEM94	VPS13A	SNCAIP	CDKN2B	MAPK1	NOS1	MRPS28	TECPR2	RARS2	SEC31A	NEK1	GRIA1	LAMA2	IQSEC2	ZC4H2	SERPING1	TBCD	LUZP1	PIK3CD	NEU1	ATG7	SZT2	DDC	SLC19A2	DCTN4	RFC2	PRNP	TBL2	GEMIN4	GRHL2	NEUROD2	NEPRO	NFIX	MT-ND4	GTF2I	NOTCH2NLC	COL2A1	TERT	SIK1	KCNAB2	MED12	PARS2	SIAH1	ZMYM2	AR	TFAP2A	EPG5	IL6ST	PRKCSH	SEC23A	VAC14	EXOSC9	DNAJC30	ALMS1	MT-ND2	ADGRG1	NEDD4L	COL5A2	HTRA2	NIPBL	STAG2	CACNA1I	H4C5	ACTG2	NEFL	PIK3R5	TSEN15	LMX1B	DALRD3	SUCLG1	IVNS1ABP	LRP5	MAN2C1	SFTPA2	ADAMTSL2	IRF2BPL	FLAD1	GIPC1	PDHA1	SMC3	ZBTB7A	ATXN7	USP7	PCNA	GABRG2	HNRNPH2	TWIST1	MTRFR	ARX	GSTM3	WNK1	NDUFS1	CAMK2B	AGRN	POLR2A	NPC1	CSF1R	GTF2IRD2	NRXN1	LIMK1	MSL3	SLC2A3	MT-TL1	TMEM270	MRPS34	FUZ	GABBR2	NUTM2B-AS1	SCN9A	SIN3A	DCX	NUS1	SLC1A2	GPHN	ALG9	ADNP	UFD1	CTNNB1	ARID2	VPS11
HP_ABNORMALITY_OF_SKIN_ADNEXA_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SKIN_ADNEXA_PHYSIOLOGY	KRT14	NLRP3	ADAT3	SDHB	H19	POLA1	GJB2	SDHD	ZNRF3	TP63	VHL	PRKAR1A	EDAR	SPTLC2	AIP	TERT	DSG1	ALOX12B	SCN9A	MALT1	DNMT3A	SLCO2A1	TRIP4	MAX	THPO	RET	SUCLG1	CTNS	COQ2	RSPO1	GLA	STS	HPGD	ALOXE3	FAM111B	ATP1A3	FH	TAT	NHP2	SPR	KLC2	PRDM12	TP53	HLA-DRB1	EDA	SLC18A2	MBTPS2	MEN1	ERCC4	NOP10	PARN	UCP2	SLURP1	CLCN6	ERCC8	TINF2	EDARADD	KRT1	HNF1A	PHOX2B	PROKR2	RTEL1	TRPV3	RETREG1	COL6A2	ALPK1	ZFHX2	FLRT1	NFKBIA	TGM1	SCN11A	LMNB1	DST	ABCC8	CLDN10	WNK1	KRT16	JAK2	GMPPA	ARNT2	SERPINB7	DDC	FOXP1	YY1	COL11A1	USB1	MPL	CTC1	COG6	HNRNPK	PRNP	SOX3	CCND1	ZFHX4	PKP1	NF1	FGFR2	NECTIN1	NTRK1	KIF1B	NPM1	DKC1	GHR	CTSB	ERCC6	CFTR	PLAA	ARX	GNA14	WNT10A	TSPEAR	KIF1A	CDH23	SDHA	RYR1	SMARCAD1	FLG	CERS3	LIFR	SLC1A3	KRT6B	COL6A3	IGHMBP2	SOX10	CSTB	PERP	ATL3	KCNJ11	IGF2	NGF	NGLY1	CUL4B	KRT17	ELOVL4	BCS1L	JUP	EDA2R	TMEM127	SLC39A14	WRAP53	MDH2	IL12B	MLX	FUCA1	KRT6A	SPRED2	MAP2K2	HESX1	PNPLA1	CLCNKB	SOX2	MADD	GRB10	SDHC	KCNJ18	BOLA3	CACNA1S	SLC25A11	NIPAL4	EPAS1	KRT9	HLA-B	PTPN22	TRAF6	BIRC3	CRLF1	SPTLC1	HEXB	KDF1	CST6	CTNNB1	TYMS	ATP1A2	GJB6	CDSN	ALDOB	CLCF1	RIPK4	HMBS	OTX2	CAMK2B	GPR101	HINT1	CACNA1A	SHANK3	KCTD1	ALX4	CASK	CDKN2A	HNF4A	ABCA12	STIM1	BRAF	LAMB3	SLC13A5	FGFR1	ITPR2	MAP2K1	COL17A1	BCL10	KCNA1	ELP1	P4HA2	SHQ1	KRT5	HRAS	COL25A1	ATL1	DLST	SDHAF2	GABRA3	ROGDI	COL6A1	TERC	IKBKG	SLC12A3
HP_CERVICAL_LYMPHADENOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVICAL_LYMPHADENOPATHY	ELANE	RAC2	HMOX1	ARPC1B	TNFRSF1A	RASGRP1	SLC29A3	DEF6
HP_MALAR_RASH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALAR_RASH	FCGR2B	CASP10	BLM	CTLA4	CDK10	FCGR2A	STAT4	IRAK1	TLR7	DNASE1	STING1	TREX1	SPP1	PTPN22
HP_ESOPHORIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ESOPHORIA	MECR	SCN8A	HOXB1	KIDINS220	TBX1
HP_EXOPHORIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXOPHORIA	HACE1	TRAPPC11	GJA8	AFF4	GJA5
HP_OVARIAN_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVARIAN_CARCINOMA	PRKAR1A	RABL3	CDKN2A	PTCH2	SMAD4	KRAS	PALB2	PDE11A	BRCA1	PALLD	SUFU	TP53	RAD51C	PTEN	BRCA2	PTCH1
HP_ABNORMAL_ARTERIAL_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ARTERIAL_PHYSIOLOGY	RASA1	DNAJC30	TBX20	ALMS1	ABCC6	VPS37D	GATA6	KRAS	ACP5	SCNN1B	STAT4	TREX1	TLR7	FOXE3	COL5A2	COL3A1	IL10	CITED2	COL4A1	TET2	RNASEH2A	JAK2	MYLK	GNB2	HLA-B	RNASEH2C	TLR4	IL12B	RNU7-1	TP53	MLX	TGFB2	PLOD1	C4A	METTL27	THPO	BRCC3	XYLT1	IL12A	ACTA2	ADAMTS13	ACVRL1	IL23R	SERPINC1	CLCNKB	GLA	ACTB	CALR	MAT2A	HTRA1	MEFV	APP	COLGALT1	GDF2	HLA-DRB1	GTF2IRD1	MPL	FBN1	NPPA	PIK3CA	ENG	ZMPSTE24	PTPN22	BUD23	SMAD4	LSM11	NOTCH3	THSD1	XYLT2	AGXT	COL1A2	ACTG1	COQ2	CTLA4	BAZ1B	RNASEH2B	ERAP1	ELN	MYBPC3	SCN5A	TGFB3	NAGS	BCL7B	SCNN1A	SLC2A10	MLXIPL	TLL1	COL1A1	GUCY1A1	LBR	LOX	NCF1	PRTN3	IRAK1	FKBP14	STING1	MYH6	CCR1	SON	EIF4H	TGFBR1	CTNNB1	IFNGR1	PLOD3	GTF2IRD2	LIMK1	BRAF	IFIH1	HLA-DPB1	NT5E	NKX2-5	ADA2	FKBP6	MFAP5	TGFBR3	ACTC1	RNF125	CBS	ANGPTL6	SAMHD1	RFC2	KLRC4	SPP1	ADAR	TBL2	MYH11	HEY2	TMEM270	PRKG1	SMAD2	SMARCAL1	GTF2I	SH2B3	HLA-DPA1	MYH7	UBAC2	SCNN1G	PIK3C2A	RNF213	CLIP2	P4HA2	EPHB4	COL5A1	IL12A-AS1	HRAS	GATA4	TGFBR2	LMNA	STX1A	ENPP1	FAS	SMAD3	IKBKG	SLC12A3
HP_SPARSE_MEDIAL_EYEBROW	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPARSE_MEDIAL_EYEBROW	TCF4	SIAH1	NUP188	SMARCA2	KAT6A
HP_UPGAZE_PALSY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPGAZE_PALSY	POLG	DLAT	PLA2G6	ATXN1	AGTPBP1	FTL	VPS13A	TWNK	AASS	KCNC3	ATP13A2	NEK9
HP_DELAYED_ABILITY_TO_STAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_ABILITY_TO_STAND	DOLK	DLAT	PHEX	ALMS1	SCN2A	GAA	KIDINS220	ITPR1	COL12A1	ZNF407	TTC5	MPZ	DPM3	BSND	CLCNKB	CLCNKA	SDHB
HP_DELAYED_ABILITY_TO_SIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_ABILITY_TO_SIT	VPS35L	RAB3GAP2	PCYT2	SLC18A2	ALMS1	CLDN11	GRIK2	CHRNB1	ADCY5	SON	WASF1	UGDH	NGLY1	ADGRL1	HIVEP2	GRIN2B	POLR2A	WDR26	NARS1	RBL2	GALNT2	FOXG1	MACF1	MDH2	EIF3F	MKS1	CASK	SLC39A8	EXTL3	ROBO3	MBD5	PGAP1	PLP1	DPYSL5	SATB1	COL3A1	VPS51	NEUROD2	TRIM8	POLR3K	H3-3A	AP3B2	OPHN1	SIK3	INPP5E	TUBB3	SNX14	TTC5	TAF8	MECP2	CHRND	KAT6A	TRIO	GNAI1	GRIN1	CUL3	LARGE1	CELF2	GAA	CDK13	NEXMIF	DAG1	CTNNB1	PAFAH1B1	HK1	MEF2C	SDHB	AHDC1
HP_RED_EYE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RED_EYE	DNASE1L3	NLRP3	ERF	ERCC3	WIPF1	HLCS	GNAS	IARS2	SREBF1	TFRC	GJB2	SLC39A4	IL10	BLNK	UROD	ERCC2	TCF3	HLA-B	BTK	TLR4	VPS33A	ERCC6	AEBP1	PLG	MAPT	C4A	CD19	IL12A	STAT4	STX16	DDB2	IL23R	TARS1	MEFV	MPLKIP	GJB6	NOD2	TNFRSF13B	NLRP1	COL17A1	TNFRSF1A	MBTPS2	HLA-DRB1	FOXC2	SHMT2	ERCC4	LBR	FGFR2	KAT6A	GATA1	MMP1	CARS1	PSMB9	RAG2	ERCC8	TP63	UROS	CD79B	GTF2H5	IGHM	LRRC8A	POLH	ERAP1	PAX1	IGSF3	STX11	FBN1	SCN9A	RNF113A	LRBA	ICOS	TKT	XPA	CCR1	FGFR3	AP1G1	PSMB8	FERMT1	PIK3R1	PSMB4	FGF10	IFNGR1	ERCC1	IKZF1	COL7A1	TNFRSF13C	BTD	RNF125	KLRC4	AIRE	WAS	GTF2E2	TGFBI	DKC1	MAB21L1	AP1B1	XPC	CR2	IGLL1	UBAC2	RAG1	MTTP	SAMD9	USB1	BTNL2	GSN	IL12A-AS1	FAS	CD79A
HP_LUPUS_ANTICOAGULANT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LUPUS_ANTICOAGULANT	STAT4	IRAK1	ADA2	SPP1	TNFAIP3
HP_ABNORMALITY_OF_CIRCULATING_BETA_2_MICROGLOBULIN_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CIRCULATING_BETA_2_MICROGLOBULIN_LEVEL	B2M	RFXAP	RFXANK	CIITA	RFX5
HP_TYPICALLY_DE_NOVO	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPICALLY_DE_NOVO	POLR2A	ATP11A	GNB2	KMT2C	PIK3R2	MAPK1	EIF2AK1	ZBTB7A	PIK3CA	CHD8	SEMA6B	ATN1
HP_ABNORMAL_CELLULAR_PHENOTYPE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CELLULAR_PHENOTYPE	FOXP3	ZFTA	MT-ND4	TERT	NDUFA9	TRNT1	ACAD9	ADAM17	PDHA1	GJA1	KLHDC8B	CPT2	ETFA	ADAMTS3	SLC25A20	NDUFS7	GNPTAB	POMP	LAMTOR2	IFIH1	CR2	RNF113A	MYD88	UVSSA	SLC25A4	NDUFA13	RASGRP1	GP1BB	SLC39A8	CNBP	RAC2	COX15	ZEB2	COX16	SLC39A4	NDUFA2	CAMKMT	NFKB1	RFXANK	FANCC	FLNA	NDUFAF8	FDXR	VPS33A	POLG	PALB2	GYG1	MAGT1	SLC3A1	BRCA2	CARS2	LRBA	SLC25A13	COA5	KRT74	ACADM	NFKB2	PIK3R1	LEPR	GLRX5	PGM3	MRPS23	IL6ST	NDUFAF6	XIAP	C9orf72	NDUFA1	MGME1	RFXAP	IL12RB1	LBR	KRT9	REL	MAD2L2	SMARCAL1	NDUFV2	MCOLN1	CTNNBL1	IL12A	HADHA	PET117	FMR1	BRIP1	CD19	SPI1	PTEN	CAVIN1	TOM1	JAK3	IGKC	PIK3CD	DNMT1	CASP10	NDUFS4	MT-ND5	PPM1B	PTPRC	TMEM185A	ZBTB24	ADA	RFX5	SMARCB1	NBN	COX20	DDB2	RRM2B	MS4A1	BCL10	CHCHD10	IBA57	SLC19A3	ZAP70	GPC3	FANCI	SP110	UMPS	NDUFS8	TBX1	TLR8	GATA3	SLC7A7	TNFRSF11A	IGHM	CARD9	NDUFS1	VCL	ZNF341	BTK	TK2	MRPS25	CCND1	GNE	NCKAP1L	DGUOK	SEC24C	GPC4	MOGS	PRKCD	SPINK5	ACTC1	TIMM50	MAN2B1	NADK2	ETFDH	SON	WAS	KRT1	NLRC4	TYK2	LRRC8A	CLN6	ADA2	SH2D1A	ERCC6	MT-TF	CARD10	TCF3	DNAJC5	NDUFAF3	SLC22A5	NKX2-5	PIGM	ARHGEF1	XPC	RYR1	ATXN2	CXCR4	MSN	LYRM7	FAS	CIITA	NDUFA8	UNC13D	CD28	TCN2	TSC1	LMNA	ERCC4	KCTD7	RACGAP1	RAG1	MVK	TIMM8A	OCRL	HYOU1	ATPAF2	QRSL1	DCLRE1C	CD79A	MT-TH	NDUFB7	CLN8	TONSL	CTNS	CD3E	RAG2	STAT5B	TNFRSF13B	WEE2	ERCC5	DNM1L	DNA2	HADH	COL7A1	IL2RG	MT-CO1	MT-ND1	DGCR6	FANCL	TPP2	DLAT	RTEL1	GTF2H5	TP53	PDGFB	AP3B1	SDHD	GPR35	SLC46A1	RAB27A	MTFMT	SETX	ECHS1	TOP3A	LAT	ICOS	FOXRED1	COX6A2	MT-CYB	GFM1	CARD11	FASLG	MT-CO3	DLD	TTN	LYRM4	RNU4ATAC	NDUFB9	SAMD9L	ACAD8	SLC25A26	TTC7A	TNNI3	HGSNAT	XRCC2	NDUFA11	NDUFB3	HLA-DRB1	PEPD	NDUFS2	ERCC3	IKBKG	DGCR2	TRIP13	CD55	MYSM1	BLNK	LIPT1	NDUFAF5	ERCC2	NDRG1	TIMMDC1	HIRA	STAT2	HSD17B10	SEC23B	ATP5F1D	DNAJC30	MT-ND3	TARDBP	SQSTM1	SPG7	BRCA1	RAD51C	SKIC2	CYBB	MT-TL2	ARVCF	CTPS1	MRPL12	IKBKB	SLC35C1	NUBPL	FANCF	GATC	TAFAZZIN	ELANE	CARS1	NFS1	STX11	CD79B	CLN5	CTLA4	MT-ND2	DSP	DOCK8	CDSN	NDUFS3	CD27	MMP1	FANCM	MMEL1	TBK1	RNF168	RAI1	STAT3	SASH3	TGFB1	DEF6	ACADVL	RELA	CD81	PDHX	LMOD2	CD40LG	SLC2A1	IL2RA	COA3	EHHADH	JMJD1C	CD3G	FANCE	IGLL1	FANCG	SURF1	PDP1	SUCLA2	WIPF1	TRMU	TNFSF12	SDHA	MYH7	RPA1	MDM4	EXTL3	COX5A	SMARCE1	MECP2	NDUFB10	FANCB	FBXL4	UBE2T	PARN	IFNGR1	PRF1	PSAP	IPO8	DOCK2	GATM	GFER	PIGK	NSMCE3	SUCLG1	ATP5F1E	SPIB	PDHB	MT-TL1	TIMM22	SCO1	SMO	ZMPSTE24	RREB1	CD247	DNMT3B	TYMS	MT-TN	TINF2	PNPLA2	VCP	NDUFA12	SH3KBP1	ALG12	HLA-DQB1	CDCA7	NDUFAF2	NDUFC2	EARS2	BAP1	KNSTRN	FNIP1	GTF2E2	SKIC3	MT-ND6	NDUFA10	IRAK4	NF2	CA2	ZCCHC8	ETFB	LRPPRC	FANCA	GBA1	TNFRSF11B	SCARB2	MT-TS2	AIFM1	FCGR3A	CD3D	XRCC4	HMGCL	RFWD3	ALB	MT-TQ	MT-TE	IL6R	SDHB	NDUFA4	MYH14	POU2AF1	ASAH1	AICDA	IKZF1	STXBP2	NEUROG3	IL21R	NDUFV1	ISCU	COA6	CARMIL2	POT1	TYMP	ERCC8	CASP8	KRT5	POLE	PATL2	SFTPC	EPG5	TMEM126B	MS4A2	VPS45	DGCR8	LIG3	FXN	TCF4	UQCC2	MRTFA	HELLS	ITK	SLC39A7	MGAT2	NDUFAF1	BLM	COMT	LCP2	RMRP	TUBB8	HLA-DQA1	PET100	AK2	ATP6AP1	RIPK1	GGPS1	NEB	ATM	TRAF7	CLN3	PIGT	MPV17	MRE11	NFU1	PTCD3	PLVAP	NDUFS6	NDUFA6	UQCRH	IRF2BP2	LEP	NDUFAF4	NHEJ1	MTHFD1	KRT14	LIG1	TXN2	CD70	POLG2	PNP	CYC1	ITCH	IL4R	TFRC	FUS	TNFRSF13C	ZP2	COL1A1	CD40	TPP1	MCCC2	FANCD2	CCBE1	RPL3L	FAT4	ATP6AP2	RAD50	TNFRSF1B	IL21	VARS2	PREPL	PNPT1	MTOR	SIK3	GNS	PMM2	AARS2	CLCN7	PSMB9	MFF	TWNK	SLC34A1	BCS1L	NFE2L2	RARS2	MIEF2	TMEM70	SLC25A10	STING1	PLCG2	PSMB8	MPLKIP	ALPK3	SYK	BACH2	AKT1	SCO2	MCPH1	ACTN2	KIF23	NSUN3	MRPS16	STAT1	PANX1	MECR	MRM2	CYBA	TNPO3	MCM4	PIK3C2A	TNFSF15	GTPBP3	CSNK2A1	PIK3CG	B2M	SPPL2A	ESCO2	CTSD	ESS2	CISD2	OAS1	TSFM	PIK3CA	KARS1	LIG4	SHH	TACO1	SFTPA2	TRMT5	RBM8A	DOLK	IVNS1ABP	TARS1	CDAN1	IL2RB	BOLA3	NLRP1	PRIM1	PSTPIP1	COG6	UNG	NHLRC2	SLC25A3	IRF5	NOTCH3	AFG3L2	SLC5A6	MTRFR	PLA2G7	RHAG	MST1	CYP27A1	XPA	CACNA1S	WRAP53	SUFU	SLX4	MT-CO2	PEX5	PSMB4	OTULIN	COA8	HIBCH	IGHG2	MT-ATP6	SEMA4D	TRIT1	COX4I1	TET2	NDUFB11	NRAS	MT-ND4L	MUC5B	MT-TW	RAD51	MRPS14	UFD1	KRAS	BUB1B	IL7R
HP_ERRATIC_MYOCLONUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERRATIC_MYOCLONUS	EPM2A	KIF1C	ATP6V0A1	NHLRC1	ARX
HP_UVEAL_ECTROPION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UVEAL_ECTROPION	OVOL2	CPAMD8	VSX1	LAMB2	GRHL2	ZEB1	COL8A2
HP_INTERICTAL_EEG_ABNORMALITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERICTAL_EEG_ABNORMALITY	SCN2A	SCN1A	DEPDC5	KCNMA1	IARS2	CACNA1E	AASS	APC2	SPATA5	EEF1A2	DNM1	UGDH	GABRA5	ST3GAL3	CACNA2D1	CDK19	CACNB4	ALDH7A1	PIGY	CNTN2	DPYD	KCNQ2	STX1B	PHGDH	GRIN2B	ATP1A2	TRIM8	EPM2A	SCN9A	HCFC1	SLC39A8	HMGCL	NTRK2	KCNQ3	ALG3	SUOX	ACTL6B	CELF2	GABRD	NDUFAF8	GUF1	AP2M1	PRPS1	GFM2	GRIN2A	CACNA1A	CARS2	NARS2	PRRT2	RUSC2	GABRB3	KCNB1	YWHAG	UPB1	LGI1	KCTD7	CABP4	GABRA1	TRAPPC12	CNKSR2	SRPX2	PIGQ	DMXL2	PIK3CA	KCNA2	TUBGCP2	NPRL2	EFHC1	ZNF526	ATN1	LRPPRC	KIF1A	GNB1	GOSR2	CPLX1	ALG2	KCNJ11	ASNS	MAP1B	GABRA2	ZNHIT3	SIK1	SETD1B	DAG1	SCN1B	ZNF148	DPM2	CDKL5	SLC25A22	SPTBN1	ATP7A	ERMARD	NACC1	CHD2	FGF12	CACNA1H	TBC1D24	ARFGEF1	IQSEC2	SCN3A	HID1	GRM7	CYFIP2	ALG11	GABRG2	RNF13	ATP6V0A1	SLC25A1	CHAT	MAPK10	KCNT1	JRK	ADARB1	PHACTR1	CNPY3	MTOR	PIGT	AARS1	MGAT2	SCN8A	TUBB2A	TRAK1	ALDH4A1	HCN1	SLC35A2	STRADA	TIMM50	PLCB1	PIGG	COQ2	CASK	ATP6V1A	KCNC2	SLC2A1	ARX	NSF	SPTAN1	CRH	FGF13	TBL1XR1	SLC13A5	TBC1D2B	PTS	PDSS2	PIGO	NPRL3	PIGP	ARV1	MYD88	PLPBP	SYT2	FZR1	SYNJ1	RELN	SYNGAP1	SLC1A2	MPDU1	VARS1	PNPO	PPP3CA	P4HTM	STARD7	ASPA	UBE3A	GLYCTK	CILK1	NECAP1	CHRNA4	CACNA1B	DNM2	ATAD1	COL13A1	PIGV	ATP1A3	GRN	GABBR2	SATB1	VARS2	AP3B2	CDK5	ARFGEF2	DHDDS	GRIA3	AKT3	PI4KA	MFF	PTPN23	GNAO1	ADK	SLC5A7	PRKAG2	PIDD1	GRIN2D	DPAGT1	CLN5	PSAT1	CHRNB2	NEXMIF	ABCC8	CNTNAP2	SLC38A3	SLC25A10	VAMP1	PCDH19	SMC1A	SCARB2	KCNT2	SZT2	MECP2	ADGRV1	GABRB1	NEUROD2	PIGW	PPFIBP1	DOCK7	NHLRC1	GABRB2	CUX2	BRAT1	ALG13	CCDC88A	DOLK	TFE3	CHRNA2	PARS2	CLCN2	MOGS	MYO9A	SLC9A6	KCNA1	SLC12A6	ADGRG1	SETBP1	PLAA	CSTB	ST3GAL5	IER3IP1	SLC18A3	NBEA	SLC1A4	DALRD3	NSRP1	MED17	CLCN4	RPL10	PDHA1	ALG14	GNB5	ARHGEF9	ATXN10	SYT1	CAMK2A	PDE2A	SNAP25	WWOX	PGAP2	PRICKLE1	CLTC	LONP1	OGDHL	NF1	WDR45	STXBP1	AGRN	KANSL1	SLC25A46	TGFB1	PIGA	ALG1	PGAP3	MED13L	FRRS1L	HIBCH	GRIN1	EXOC8	MDH1	SAMD12	AIMP2	DCX	COX4I1	UBA5	GAD1	NUS1	CLN8	PIGS	CUL3	CLTCL1	GLUD1	GRIA1	SLC6A1	NAXD	D2HGDH	TBCK	CPA6	PAFAH1B1	PNKP	PIGL	ROGDI
HP_ANTI_THYROID_PEROXIDASE_ANTIBODY_POSITIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTI_THYROID_PEROXIDASE_ANTIBODY_POSITIVITY	ADA	FOXP3	POMP	ITCH	RASGRP1	THRB	NFKB2
HP_DORSOCERVICAL_FAT_PAD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DORSOCERVICAL_FAT_PAD	PRKAR1A	CDH23	TP53	PDE11A	ALMS1	PDE8B	TRMT10A	GNAS	ARMC5	USP48	BRAF	ATRX	PRKACA	USP8	NR3C1	PPP1R15B
HP_PILL_ROLLING_TREMOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PILL_ROLLING_TREMOR	CDKL5	MECP2	PLA2G6	NTNG1	SMC1A	DNAJC6	GABBR2
HP_PULMONARY_INTERSTITIAL_HIGH_RESOLUTION_COMPUTED_TOMOGRAPHY_ABNORMALITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_INTERSTITIAL_HIGH_RESOLUTION_COMPUTED_TOMOGRAPHY_ABNORMALITY	STN1	SFTPC	FAM13A	HLA-DRB1	CSF2RB	SFTPA2	TERC	ATP11A	TERT	RTEL1	CSF2RA	SFTPB	BMPR2	NKX2-1	COL3A1	PARN	SFTPA1	ABCA3	HLA-DPB1	EIF2AK4	ASAH1	SLC34A2	DSP	DPP9	MUC5B
HP_STARING_GAZE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STARING_GAZE	SYT2	AARS2	ATXN1	PNKD	SLC5A7	SNAP25	SLC25A1	SLC2A3	CHAT	COL13A1	NEXMIF	VAMP1	MYO9A	HTT	SYNJ1	PRRT2	NGLY1	AGRN	SLC18A3
HP_STOOPED_POSTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STOOPED_POSTURE	MECP2	TMEM106B	SLC18A2	COL12A1	ATP13A2	POLG	TK2	WARS2
HP_ABNORMAL_VISUAL_FIXATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VISUAL_FIXATION	AMPD2	VPS41	VPS4A	ATF6	PIGB	SLC39A8	PDE6C	ITPR1	OFD1	CLP1	CCDC88A	ASPA	GNAT2	PTPN23	RPGR	VPS13D	CLCN3	PET100	RANBP2	ASAH1	CNGA3	CNGB3	GBA1	DPM1	RNF13	PDE6H
HP_VISUAL_FIXATION_INSTABILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VISUAL_FIXATION_INSTABILITY	PET100	AMPD2	ITPR1	ASPA	ASAH1	VPS4A	CLP1	CCDC88A	CLCN3	RNF13	SLC39A8
HP_ASTHENIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASTHENIA	MTHFD1	PIGA	PRORP	DGUOK	ALAS2	SERPINA6	PLEKHM1	MAN2B1	NSDHL
HP_DIFFUSE_ALVEOLAR_HEMORRHAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFUSE_ALVEOLAR_HEMORRHAGE	PML	ZBTB16	NUMA1	STAT5B	IRF2BP2	HMOX1	NLRC4	BCOR	COL3A1	TBL1XR1	FIP1L1	NPM1	EIF2AK4	STAT3	PRKAR1A	RARA	NABP1
HP_ABNORMAL_LARYNX_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LARYNX_MORPHOLOGY	PPM1D	NEK1	KAT6B	PTH1R	SEMA3E	CTSK	RPL10	MATR3	HAAO	SPTBN1	ARSL	PCNT	LRP12	NOTCH2NLC	LBR	SOX4	MYMX	EPHB4	LAMB3	LTBP4	ZNF699	SNIP1	HYLS1	FLNA	DTYMK	CHD7	PRMT7	HIRA	CAPN15	IDH1	MEG3	DYNC2I1	FRAS1	EIF4A3	EXTL3	GLI3	INTU	SETBP1	CACNA1C	GMNN	FOXE1	WDR35	C2CD3	KRT5	TBX1	DLK1	UBE3B	SERPING1	CREBBP	H3-3A	PLG	TCTN3	GP1BB	ARVCF	TBX3	TONSL	SLC26A2	PUF60	GIPC1	SCARF2	ATP6V1E1	ZBTB7A	AFF4	HDAC4	SYT1	RREB1	FGFR2	LRP4	AHDC1	PSAP	CENPE	NFIX	IFT80	EDN1	ADARB1	KIF22	FLNB	HNRNPR	SF3B4	VPS13B	MID1	HSPG2	FREM2	COMT	POR	HS3ST6	KRAS	NRCAM	POLR3A	PKDCC	XPNPEP2	MEIS2	DYNC2H1	SATB2	EP300	H3-3B	DYNC2LI1	SEC24C	MYMK	GRIP1	FANCB	COL12A1	LAMC2	FGFR3	KANSL1	FERMT1	BRF1	GALC	MGP	FGF10	KCNMA1	MAP3K7	DDRGK1	RTL1	SMAD4	ASXL3	ZIC3	KAT6A	WRN	LAMA3	KIF7	JMJD1C	DYNC2I2	FBXW7	ORC6	SOX9	PRRX1	RALGAPA1	LTBP3	SMAD2	SIAH1	APC	CILK1	HOXD13	AMER1	EFL1	KRT14	LMNA	RAF1	ASAH1	UFD1	MT-CYB	NIN
HP_ABNORMAL_LARYNX_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LARYNX_PHYSIOLOGY	MATR3	OPTN	GRIN2A	NEK1	CCNF	ERBB4	DCTN1	VAPB	PFN1	BRF1	PON2	CFAP410	ANG	TBK1	UNC13A	SOD1	ATXN2	FUS	FIG4	CHCHD10	PPARGC1A	CASR	PRPH	BTD	DAO	UBE3B	TARDBP	VCP	ANXA11	TAF1	TSPYL1	GLT8D1	UBQLN2	SCN4A	TREM2	PON3	GABRG2	NEFH	C9orf72	SRPX2	SQSTM1	PLP1	TAF15	GLE1	HNRNPA1	EPHA4	PON1	ASAH1	CHMP2B
HP_ABNORMAL_BRONCHUS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BRONCHUS_MORPHOLOGY	DNAJB13	DNAH5	BLM	RASGRP1	POLA1	TERC	ARSL	NFKB1	SCNN1G	RTEL1	STAT1	SERPINA1	RPGR	CCDC103	LTBP4	IRF8	ZNF699	DOCK8	TGFB1	DNAAF4	TCF3	IRF2BP2	RSPH3	ALDH18A1	SLC41A1	STK36	EHMT1	GNPTAB	SLC9A3	ODAD4	DRC1	FCHO1	LRRC56	CFAP300	PIK3R1	GAS8	STN1	CD79A	IRF9	MYRF	CLCA4	FAM13A	CCDC65	TAP2	RAC2	TNFRSF13B	HLA-DRB1	KAT6A	IL17RA	SMARCA2	IL2RG	FOXJ1	DNMT3B	NME8	SLC26A2	ODAD3	UNC119	CEACAM6	TPP2	NME5	FGFR1	ABCA3	DNAH11	SLC34A2	FCGR2A	ODAD2	ODAD1	DNAH1	MAGT1	IGHM	SPAG1	LRBA	IDS	SCNN1B	LAT	DNAI1	ICOS	SYK	CFAP221	RSPH4A	MGP	GCLC	BACH2	NEK10	RIN2	RSPH9	SCUBE3	PGM3	HYDIN	IL6ST	SCNN1A	FNIP1	SPEF2	CFAP298	ZMYND10	TNFRSF13C	RSPH1	RAC1	DCTN4	HRAS	DPP9	CD8A	ERF	IL10RB	MCIDAS	CD19	HFE	GAS2L2	EDNRA	DNAAF2	TP73	TERT	STX3	SLC11A1	CR2	DNAAF5	CD79B	FGFR2	SFTPA1	MIF	ELN	IGKC	PIK3CD	B2M	SOX9	DNAL1	BLNK	MYH11	IL21R	CARMIL2	OFD1	NBN	SLC29A3	CCDC40	KCNN4	GMNN	TAPBP	DNAAF11	KRT5	POLE	FBLN5	MUC5B	DNAAF6	EGFR	CFTR	SFTPA2	ATP11A	DNAAF3	CCDC39	TAFAZZIN	SLC26A9	DNAAF1	MPEG1	PI4KA	SLC6A14	LRRC8A	POR	CTLA4	DNAI2	HMOX1	ZNF341	DNAH9	BTK	GSTM3	FLNB	NCKAP1L	SFTPC	RIPK1	BTNL2	TTC12	NFKB2	TAP1	WDR1	ATM	SASH3	TTC26	PAK2	DDRGK1	DSP	MS4A1	IGHG2	CARD10	CD81	TOM1	CCNO	EMILIN1	NDUFA6	TNFSF12	ORC4	CXCR4	ARHGEF1	IGLL1	ORC6	TET2	CEACAM3	STX1A	PARN	PRKCD	KRT14
HP_ABNORMAL_BRONCHUS_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BRONCHUS_PHYSIOLOGY	SCGB3A2	CCL11	SDHD	ERCC3	ERCC2	TARS1	IL13	RNF113A	PLA2G7	PTGER2	TNF	ADRB2	HNMT	MUC7	GALNS	TSPYL1	IFNGR1	ACAN	DAXX	MPLKIP	ALOX5	CARS1	GTF2H5	TBX21	ATRX	HLA-G	GTF2E2
HP_BRONCHOSPASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRONCHOSPASM	CARS1	SDHD	ERCC3	ERCC2	TARS1	RNF113A	GTF2H5	ATRX	TSPYL1	ACAN	GTF2E2	DAXX	MPLKIP
HP_ABNORMAL_CRY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CRY	GFPT1	ABAT	IGHMBP2	SEMA5A	HACD1	VPS13B	PPP1R21	TPM3	ATRX	GGPS1	LAMB2	OPA1	VAMP1	ATP1A3	TRIP4	CRYAB	NIPBL	SNRPN	LAMA2	ACTA1	AGRN	ZNF699	CTNND2	COLQ	SLC18A3	TTC26	CHAT	ASPA	LAMA3	RYR1	COL13A1	KDM6A	KMT2D	COQ9	SYT2	CHRNE	TSHR	CHRNA1	MAGEL2	MECP2	RAPSN	FUZ	SLC25A1	MYH7	NDUFS8	LYRM4	TSPYL1	PEX19	SLC5A7	ATP5F1A	TPM2	FIG4	SNAP25	FKTN	SIM1	VARS1	MYO9A	PNPO	ASAH1	SELENON	EXOSC9	FTO
HP_HIGH_PITCHED_CRY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_PITCHED_CRY	ABAT	ATP1A3	MECP2	PNPO	ATP5F1A	FIG4
HP_INCREASED_CIRCULATING_LACTATE_DEHYDROGENASE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_LACTATE_DEHYDROGENASE_CONCENTRATION	PIK3CG	OCRL	RHD	HMOX1	CALR	SLC25A13	ACAD9	STAT4	IRAK1	GAA	PIGA	RB1	LPIN1	NSUN2	LIPA	CPT2	MVK	MLIP	XK	SLC19A1	PLEC	HBB	MT-CO3	RHAG	CFH	TP53	ZNFX1	CAV3	SPP1	CBLIF	TCIRG1	KLF1	JAK2	PITRM1	RHCE	ALDOA	LYST	MYC	FLI1	CD46	HLA-DRB1	CFI	CDAN1	KCNN4	TET2	HELLPAR	AKR1D1	CHEK2	RPS14	PNPLA2	PIEZO1	SLC4A1	USB1	MPL	MTHFD1	SLC7A7	ABCG8	PLA2G6	VPS13A	HMGCS2	KIF23	KY	MT-CO1
HP_ELEVATED_SERUM_11_DEOXYCORTISOL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_SERUM_11_DEOXYCORTISOL	TERT	ZNRF3	TP53	CTNNB1	PRKAR1A	POR	CYP11B2	CYP11B1	CDKN2A
HP_PHARYNGITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHARYNGITIS	ELANE	PTPN22	TCIRG1	P4HA2	SLC29A3	GFI1	XIAP	SH2D1A	SRP54	HLA-DPB1	CXCR4	HLA-DRB1	TNFRSF1A	CLPB	ALG12	HLA-B	NFKB2
HP_TESTICULAR_ADRENAL_REST_TUMOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TESTICULAR_ADRENAL_REST_TUMOR	MC2R	PRKAR1A	PDE11A	CYP11B1	STAR	NNT	MRAP	TXNRD2
HP_PYODERMA_GANGRENOSUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PYODERMA_GANGRENOSUM	ELANE	WDR1	NFKB1	SRP54	TCIRG1	MEFV	GFI1	OTULIN	CLPB	PSTPIP1
HP_ABNORMAL_CSF_METABOLITE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CSF_METABOLITE_CONCENTRATION	MT-ND4	NDUFV2	ASPA	NDUFB10	NDUFA9	AASS	PDHA1	SLC2A1	NDUFV1	RNASEH2C	MT-ND1	RNU7-1	TRMT10C	COQ8A	ADAR	NDUFS7	NARS2	MT-ND5	ATPAF2	SUCLG1	AIFM1	COX6B1	PNPT1	SLC25A4	NDUFS4	NDUFA13	SDHA	NDUFS2	MT-TH	MT-TL1	SLC39A8	PSAT1	NDUFB8	COX15	NDUFAF5	NDUFA2	ALDH5A1	ADK	NUBPL	NDUFA12	MTFMT	RNASEH2B	GFM2	LRPPRC	TICAM1	GLUL	NDUFAF2	RARS2	ECHS1	NDUFA4	NR4A2	NGLY1	TRAPPC12	FOXRED1	RMND1	SCO2	NDUFA11	NDUFA6	TH	TREX1	NDUFA1	DDC	GFM1	MT-ND6	MT-ATP6	DLD	NDUFA10	MECP2	COA8	LYRM4	NDUFS8	NDUFB9	PET117	MT-TS2	IMPDH2	NDUFS3	TXN2	MT-TQ	TIMM50	NDUFB3	DLAT	MT-ND2	SPTBN1	GLYCTK	NDUFS1	NAXE	HTRA2	LIPT1	RNASEH2A	NDUFAF8	MPV17	STAT2	TLR3	KARS1	COX20	HSD17B10	MT-CO1	MT-ND3	TACO1	TIMMDC1	CLPB	SLC6A3	COX10	TBK1	TMEM126B	SLC19A3	BOLA3	DNM1L	SURF1	GCH1	TRAF3	NDUFAF3	TPK1	UQCC2	FARS2	MT-TV	LSM11	RRM2B	NDUFAF1	MT-TK	ALDH4A1	DARS2	LONP1	PET100	COX14	NDUFAF6	MT-CO2	RPIA	SLC25A19	MT-TW	MT-TN	HPDL	MDH2	IFIH1	ERCC6	MT-TF	SAMHD1	NFU1	COX8A	PDHX	MRPS34	NDUFS6	TSPOAP1	COX4I1	SLC13A3	NDUFB11	NDUFAF4	MT-CO3	PNPO	UNC93B1	LYRM7	NDUFA8
HP_ABNORMAL_CSF_PROTEIN_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CSF_PROTEIN_CONCENTRATION	TICAM1	MT-ND4	GALC	PSAP	MT-ND5	BCAT2	GFAP	SLC12A6	ARSA	NOTCH2NLC	MPZ	NGLY1	MICU1	PRNP	MT-CO2	ATP1A2	PRF1	TLR3	TYMP	POLG	MT-CO1	EGR2	TTR	RANBP2	MT-TF	ABHD5	CD59	SLC12A2	MT-ND6	PRRT2	RRM2B	PRX	TBK1	NDUFS4	HLA-DQB1	MT-TH	PEX7	MT-TL1	LIG3	PHYH	OCLN	HLA-DRB1	PMP22	MT-TS2	LMNB1	TRAF3	SUMF1	FTL	MT-CO3	CACNA1A	MT-TW	UNC93B1	BTNL2	ALDH4A1	TXN2	MT-TQ	GBE1	SCN1A	MT-ND1
HP_ABNORMAL_CELL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CELL_MORPHOLOGY	MDM4	ZFTA	DOLK	RRM2B	LMOD2	ZCCHC8	COA5	PANX1	LIG3	ACTC1	GYG1	PARN	CACNA1S	WRAP53	RYR1	WEE2	ZP2	ATXN2	ALPK3	POT1	TYMP	POLG	RTEL1	RPL3L	TYMS	TNNI3	TINF2	ACTN2	TP53	PNPLA2	RELA	TERT	VCL	DSP	PATL2	TUBB8	RPA1
HP_ABNORMAL_CIRCULATING_BETA_GLOBULIN_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_BETA_GLOBULIN_LEVEL	B2M	RFXAP	ALB	RFXANK	CIITA	RFX5	TF
HP_HYPERPIGMENTED_PAPULE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPIGMENTED_PAPULE	PSENEN	KIT	IDH1	POFUT1	POGLUT1	FLNA	KRT5
HP_ERYTHEMATOUS_PLAQUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERYTHEMATOUS_PLAQUE	RASA1	CARD14	LDHA	SDHD	TRPM4	HAVCR2	COL2A1	EBP	MEFV	COL7A1	MPDU1
HP_ATRIAL_STANDSTILL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATRIAL_STANDSTILL	SCN5A	GJA5	NPPA	RYR2	TRDN	CASQ2
HP_ABNORMAL_CIRCULATING_THYROGLOBULIN_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_THYROGLOBULIN_LEVEL	TPO	TRHR	KCNJ10	FOXI1	TG	SLC35A2	SLC5A5	IYD	TSHB	PAX8	THRB	DUOXA2	SLC26A4	DUOX2	TSHR
HP_INCREASED_CIRCULATING_THYROGLOBULIN_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_THYROGLOBULIN_LEVEL	PAX8	THRB	KCNJ10	SLC26A4	DUOX2	FOXI1	TSHR	SLC35A2
HP_ABNORMALITY_OF_BLADDER_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_BLADDER_MORPHOLOGY	DNAJC30	GRIP1	BCL7B	ITGB4	SLC35A2	MYLK	MLXIPL	SMAD3	FKBP14	MYL9	ELN	VPS37D	KRAS	NCF1	FOXF1	PIGN	COL5A2	COL3A1	LAMC2	WNT4	MYH11	LAMB3	UPB1	LTBP4	MKKS	EFEMP2	MYOCD	EIF4H	ISL1	NKX2-1	ALDH18A1	GTF2IRD2	LIMK1	MKS1	LTBP1	SALL4	ACTG2	FKBP6	FBLN5	MBTPS2	FREM2	METTL27	RFC2	CC2D2A	ATP7A	TBL2	RAC2	TP63	TMEM270	MYRF	CDH11	GTF2I	MED12	COL1A2	AVPR2	LAMA3	SMARCA2	LMOD1	GTF2IRD1	ITGA6	G6PC3	AQP2	STK11	COL1A1	PAH	BUD23	CLIP2	ALG9	COL5A1	LRIG2	POR	STX1A	BAZ1B	PLEC	PLOD1
HP_PALMOPLANTAR_ERYTHEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALMOPLANTAR_ERYTHEMA	GJA1	GJA8	DSP	GJA5	WNT10A
HP_OVERWEIGHT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVERWEIGHT	HNF4A	AP4M1	KCNJ11	KLF11	BLK	LHX3	TRHR	THOC2	AP4E1	CTSK	HNF1A	IGSF1	POU1F1	GCK	CHD8	SPTBN1	HESX1	FOXP1	TRIP4	INS	TMEM218	ADGRL1	ZBTB7A	TAOK1	PDSS1	LHX4	PROP1	ASH1L	CEL	AP4S1	SPG11	AP4B1	ABCC8	ABCB4	PAX4	USP7	UNC45B	ACADVL	PDX1	APPL1	CFAP418	SATB1	NEUROD1
HP_MORNING_GLORY_ANOMALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MORNING_GLORY_ANOMALY	DNM1L	HMX1	TMEM237	PAX6	OPA1	PAX2
HP_HYPOPLASTIC_HIPPOCAMPUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_HIPPOCAMPUS	VPS51	TCF4	TUBA1A	CARS2	CLCN3	SCN1A	SLC35A2	NDE1	MTHFD1	GRIN1	ATP1A3	VPS13A	OSTM1	CAMTA1	POU4F1
HP_ABNORMAL_B_CELL_SUBSET_DISTRIBUTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_B_CELL_SUBSET_DISTRIBUTION	PIK3CD	PIK3R1	REL	RASGRP1	LRBA	CTPS1	ICOS	SOCS1	ARHGEF1	CTNNBL1	PLCG2	TET2	IRF2BP2	ELF4	BACH2	PRKCD	SP110	FNIP1	POMP	HYOU1	IL21	LCP2	CD19	TOM1	IL6R	IKBKB
HP_ABNORMAL_T_CELL_SUBSET_DISTRIBUTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_T_CELL_SUBSET_DISTRIBUTION	FOXP3	WAS	PIK3CG	NCKAP1L	CASP10	FAS	RASGRP1	WDR1	ATM	PRKCD	FOXN1	LAT	RFX5	PGM3	SASH3	DCLRE1C	DOCK8	RAG1	SYK	LEPR	RFXAP	KNSTRN	DEF6	PIK3CD	CASP8	OTULIN	EXTL3	ATP6AP2	POMP	NSMCE3	FASLG	CD8A	TCF3	PIK3R1	IVNS1ABP	BCL10	MYC	IL2RA	CTPS1	SMARCAL1	CD4	IL2RB	IL2RG	CD3E	GATA2	RAG2	ZAP70	CD3G	CTNNBL1	LCK	RHOH	LEP	CD247	CARD11	WIPF1	RFXANK	CD3D	UNC119	ITK	PNP	AP3B1	EPG5	HLA-DPB1	BLM	LIG1	CIITA	LCP2	TOM1	IL7R	MAGT1	IKBKB
HP_ABNORMAL_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION	HBB	ANK1	ERCC3	ERCC2	KCNN4	TARS1	RNF113A	CD46	CFI	SPTB	EPB42	PIEZO1	HELLPAR	MPLKIP	SLC4A1	CARS1	GTF2H5	CFH	SPTA1	GTF2E2	RHAG
HP_DECREASED_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION	HBB	CFH	HELLPAR	CD46	CFI	RHAG
HP_INCREASED_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION	PIEZO1	SLC4A1	CARS1	ANK1	ERCC3	ERCC2	KCNN4	TARS1	RNF113A	SPTB	EPB42	GTF2H5	SPTA1	GTF2E2	MPLKIP
HP_OPTIC_NERVE_MISROUTING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPTIC_NERVE_MISROUTING	SLC38A8	MC1R	TYRP1	OCA2	SLC45A2
HP_ABNORMAL_MORPHOLOGY_OF_THE_CHOROIDAL_VASCULATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_THE_CHOROIDAL_VASCULATURE	ABCC6	EFEMP1	PRPH2	HMCN1	C1QTNF5	CLCN2	CFI	FBLN1	HLA-A	FBN2	APOE	GNAQ	FBLN5	CCM2	PDCD10	XYLT2	CFH	AGXT	CFHR3	ENPP1	XYLT1	MAPKAPK3	CFHR1	KRIT1	CLEC3B	TIMP3
HP_MILD_MYOPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MILD_MYOPIA	AHDC1	OFD1	COL11A2	POGZ	H4C5	GNB3
HP_MACULAR_HEMORRHAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_HEMORRHAGE	CFH	HMCN1	APOE	CFI	CFHR3	EFEMP1	CFHR1
HP_ABNORMAL_LEFT_ATRIUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LEFT_ATRIUM_MORPHOLOGY	FLNC	MYL3	SCN1B	NAA10	LMOD2	TLL1	TNNT2	NUP155	FOCAD	RARB	STRA6	KIF20A	GYS1	PLD1	NPPA	MYL2	MYH7	MYPN	TNNI3	FHOD3	BANF1	SCN5A
HP_ABNORMAL_RIGHT_ATRIUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RIGHT_ATRIUM_MORPHOLOGY	FLNC	NOTCH1	TBX20	TLL1	TNNT2	GATA6	NKX2-5	RPL3L	FLNA	MCM10	KIF20A	ACTC1	MYH6	CITED2	ABCC6	GATA4	MYL2	MYPN	MYBPC3	BANF1	TNNI3
HP_POSTERIOR_BLEPHARITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_BLEPHARITIS	GATA1	GJB2	UROS	UROD	SREBF1	MBTPS2	GJB6
HP_FOCAL_EMOTIONAL_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_EMOTIONAL_SEIZURE	GRIN1	PHGDH	SLC38A3	PACS1	NGLY1	SMO	GLI3
HP_ABSCESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSCESS	IGKC	B2M	DDR2	RIPK1	TTC7A	SMAD4	WDR1	PALB2	DLX3	UBE2A	BRCA1	NCF1	BRCA2	CYBC1	PGM3	MEFV	TGFB1	VANGL1	NTRK1	CARMIL2	CDKN2A	ELF4	BTK	PHEX	ABCB4	STAT3	PSTPIP1	NCF2	PSEN1	MYD88	IL10RA	KRAS	TP53	ITGB2	IGHG2	PKHD1	CTSC	RAC2	RABL3	PSENEN	PI4KA	ACVRL1	IL10RB	ENPP1	CYBB	IRAK4	MNX1	DMP1	OTULIN	IL1RN	GJB2	CYBA	PALLD	IL6ST	G6PC3	ELANE	IL17RA	IKZF3	MPEG1	IGHM	FGF23	ENG	BLM	LCP2	NCF4	GJB6	ZNF341	IL6R	IKBKB
HP_ABNORMAL_URETER_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URETER_MORPHOLOGY	KCNA1	BCOR	CSPP1	CHRM3	FIBP	ITGB4	MYLK	FANCB	GATA6	SCN1B	SETBP1	HS2ST1	FOXF1	UBE2T	PAK2	RPGRIP1	EDNRA	LAMB3	NAA10	MKKS	TXNDC15	LMNA	B9D2	COL18A1	HPSE2	TCTN2	RNU4ATAC	RAB23	GRM7	TCTN3	SETD2	TMEM107	GLI3	AVPR2	ERCC6	IFT140	PLD1	EVC2	ACTG2	RBM8A	BRCA1	WFS1	ARID1B	EPG5	TMEM67	ACTB	NSD1	AQP2	LONP1	SOS2	LMOD1	DDB1	SLC25A22	KIF14	AXIN1	ITGA6	GPC3	MBTPS2	CPT2	FANCF	ZMPSTE24	CDKL5	GLI1	SCN2A	GNAO1	B3GLCT	MKS1	PIGT	SLC6A17	PRPS1	TCTN1	PIEZO2	ACTG1	PALB2	FLNA	SOX17	TP63	TMEM231	VANGL1	RIPK4	FUZ	MAPRE2	BRCA2	LHX1	NADSYN1	TRIM8	GPC4	PBX1	PIGN	SPINT2	FANCM	HNF1B	PSMD12	LAMC2	FAM20C	SMC3	CEP290	CASK	SLX4	KCTD1	ERCC8	PIGQ	ERCC4	FANCL	ARX	TBX18	DMXL2	TMEM237	TMEM216	RAD51C	GRIN1	FANCD2	NPHP3	PEX6	APC2	APRT	PIGP	MAD2L2	SOS1	NEUROD2	MED12	LAMA3	MYH11	FANCA	SLC22A12	FANCI	FANCE	DYNC2LI1	B9D1	FANCG	ALG9	BRIP1	CC2D2A	NDUFAF3	CEP55	PORCN	RAD51	RFWD3	XRCC2	SIK1	NODAL	FANCC	EVC	PLEC	PRKACA	PNKP	RPGRIP1L	PRKACB
HP_ABNORMAL_URETER_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URETER_PHYSIOLOGY	BRD4	PIGN	SH2B1	KAT5	SEMA3E	VPS37D	STIL	HAAO	SASS6	HNRNPU	TNXB	FLNA	PHC1	MAP3K7	TRAPPC10	PPP3CA	MCM7	LTBP1	CHRM3	SETD2	PYCR2	FBLN5	BNC2	KDM6A	METTL27	PIGL	ELN	SPOP	TBX1	SIX1	HDAC8	DHCR7	MNX1	PBX1	GP1BB	KIF14	GTF2IRD1	MYOD1	H4C9	AFF4	ZEB2	YY1	EXT1	RREB1	NRIP1	CHD4	STAMBP	SMC1A	LRIG2	JAG1	TRAPPC14	CTLA4	RPL11	MYCN	PIGQ	ANKLE2	POLR3A	VANGL1	BCL7B	MLXIPL	CREBBP	KMT2C	MAPKAPK5	TRPS1	NCF1	EYA1	PRTN3	HOXA13	TP63	HSPA9	FGFR3	PSMD12	KNL1	EFEMP2	BRF1	ISL1	FGF10	GRHPR	RERE	HLA-DPB1	EHMT1	FKBP6	GREB1L	MBTPS2	NCAPG2	RFC2	RBCK1	HNRNPK	DVL3	DDX6	TBL2	APC2	IGF2	RAD21	FANCF	CDH11	CENPJ	COPB2	GTF2I	MED12	EBF3	PIGO	GNB1	CCBE1	RALGAPA1	CLIP2	DCDC2	ZMYM2	WDR62	KANSL1	NCAPD3	TRRAP	FGFR2	KCNQ1	MID1	CIT	STX1A	PAX2	DNAJC30	TAF13	SETBP1	PAX6	PAK2	SIX5	NIPBL	KMT2D	LAMB3	COL18A1	CHD7	PRMT7	HIRA	CDC45	SALL4	RECQL4	SDHB	ACTG2	CDKN1C	SALL1	ATP7A	RBM8A	POR	NSD1	DNMT3A	ARVCF	PUF60	CDK6	SMC3	FANCI	SF3B2	BUD23	ROBO2	ATRX	PIGT	UNC45A	MCPH1	SLC26A1	CDK5RAP2	GATA3	COMT	ASXL1	BAZ1B	SOX17	BPTF	RARB	KIFBP	SLC35A2	FUZ	ZMIZ1	SEC24C	BICC1	ASPM	UBE2A	LAMC2	SDHAF1	DACT1	EIF4H	SHANK3	SDHA	PLXNA1	NKX2-1	MFSD2A	PIGA	GTF2IRD2	LIMK1	CEP152	TBX18	CEP135	TMEM270	DSTYK	SDHD	METTL5	NFIA	HLA-DPA1	LAMA3	JMJD1C	OTUD5	CEP63	HNF1B	CCNQ	PTPN22	KCNQ1OT1	NODAL	UFD1	CHRNA3	HPSE2	STRA6	ARNT2	EP300
HP_FETAL_NECK_ANOMALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FETAL_NECK_ANOMALY	BRD4	PIGN	SLC26A2	HNRNPK	DNAJC30	RAD21	TBC1D24	ODC1	VPS37D	BUB3	CSGALNACT1	FOXF1	CEP57	CHMP2B	LBR	GRN	FIG4	PEX11B	NRAS	C9orf72	RNU4ATAC	CBL	SLC35A2	PEX12	RRAS2	METTL27	ENPP1	MAPT	VCP	DOHH	TCF4	SOS2	HDAC8	DHCR7	TMEM106B	EFNB1	TRIP11	PEX3	PTPN11	SMC3	PEX5	SPRED2	GTF2IRD1	PEX10	BUB1B	RRAS	MRAS	BUD23	ADARB1	SMC1A	RIT1	LZTR1	RASA2	LAMA5	PSEN1	MYL11	PEX2	VAC14	RAF1	BAZ1B	ELN	PSAT1	PEX6	STAG1	BCL7B	MLXIPL	TRAF7	PEX19	PEX14	NCF1	TXNDC15	TRIP13	FGFR3	ABCC6	PEX16	EIF4H	NIPBL	GTF2IRD2	LIMK1	PEX1	FKBP6	DHPS	ALG9	RFC2	TBL2	GATA1	PEX13	TMEM270	HRAS	KRAS	ATN1	GTF2I	TREM2	GPC6	BMPER	SQSTM1	OFD1	EBP	ATP6V1B2	CLIP2	PEX26	SOS1	BUB1	STX1A
HP_EARLY_YOUNG_ADULT_ONSET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EARLY_YOUNG_ADULT_ONSET	NRCAM	COL2A1	TWNK	B2M	POLG	STAT1	CEBPE	DNAJC3	PIK3R5	LHB	KCNJ5	SLC4A4	HTRA1	SNTA1	SELENBP1	TLR7	EIF2AK2	UNC13D	HCN4	TTN	SEMA3A	TOR1AIP1	PRKRA	KCNE1	SMN2	LMNA	REEP1	LIG3	SMN1	TLR8	CLCN1	BVES	DSP	KCTD17	PMP2	GPIHBP1	KCNJ2	CARD9	KCNA5	GYG1	ALG10B	SERPINA1	KCNH2
HP_INTERMEDIATE_YOUNG_ADULT_ONSET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERMEDIATE_YOUNG_ADULT_ONSET	CHRNA1	TP53	ATP6AP2	YARS1	SOST	SLC12A5	CACNB4	SLC22A12	ENG	C14orf39	JAK2	GRN	ATP7B
HP_LATE_YOUNG_ADULT_ONSET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LATE_YOUNG_ADULT_ONSET	H6PD	POLG	MYH7	GFAP	PRPH2	PSEN2	SLC22A12	CLCN2	ATXN3	CAV3	ATP7B	MAPT	SCN3B	VAPB	RAX2	CSF1R	SAMD9L	CHCHD10	VCP	CACNB4	CHRNA2	PSEN1	ANXA11	EPCAM	CYP27A1	KCNA5	XRCC1
HP_ABNORMAL_FETAL_SKIN_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FETAL_SKIN_MORPHOLOGY	ADA	RAG1	CHD7	SLC27A4	HLCS	IL7R	RAG2	RMRP	IL2RG	TGM1	LIG4	GBA1	DCLRE1C	TWIST2
HP_LAGOPHTHALMOS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LAGOPHTHALMOS	POLR3A	ZMPSTE24	HOXB1	MYMK	NGLY1	ECEL1	PRR12	LMNA	RIPK4
HP_SINGLE_FIBER_EMG_ABNORMALITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SINGLE_FIBER_EMG_ABNORMALITY	SLC25A1	DPAGT1	ALG2	ALG14	GMPPB	GFPT1
HP_EMG_POSITIVE_SHARP_WAVES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMG_POSITIVE_SHARP_WAVES	MTMR14	NR4A2	SETX	TFG	ANXA11	SGCG	DNM2	OPTN	GNE
HP_ABNORMAL_FEMALE_REPRODUCTIVE_SYSTEM_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FEMALE_REPRODUCTIVE_SYSTEM_PHYSIOLOGY	PROKR2	CIDEC	F13A1	IRF2BP2	ITGA2B	WIPF1	SMARCE1	FGF17	YARS1	AXL	FIP1L1	KISS1R	AIP	AR	SLFN14	BMP4	NUP107	ZFPM2	RTN2	CYP17A1	F8	HFE	PRKN	FMR1	PRKAR1A	CDKN1B	MAGEL2	GP1BA	H6PD	STAT5B	SETD2	RASGRP1	GNAS	NPHP3	PSMC3IP	SRY	EIF2B3	SMO	SPIDR	EIF2B5	CCDC141	GPR161	WWOX	GP1BB	DHH	RNF216	SMC1A	MYH9	GP9	TAC3	HS6ST1	DCAF17	LARS2	SYNJ1	TWNK	CYP19A1	COQ2	NIN	RCBTB1	FEZF1	ALMS1	CDH23	SMCHD1	WT1	TP63	VWF	DUSP6	C14orf39	USP8	PSMD12	MEN1	CLPP	TRAF3IP2	BAP1	LEPR	IKZF1	MCM9	WDR11	NOBOX	FLI1	SERPINE1	UCHL1	WAS	FOXL2	EIF2B4	ZFHX4	NF2	BBS9	BLOC1S3	WRN	NDNF	SLC37A4	ANOS1	SPRY4	MSH5	TRAF3IP1	GNRHR	CEP164	GALT	USP48	BCOR	CTDP1	DIAPH1	CAVIN1	LEP	ESR1	PEX6	NDN	LMNA	TFR2	PML	RAD21	PROK2	DMRT3	ERAL1	BMP6	SNORD115-1	CCN2	F5	PWRN1	GHR	LHX4	SMARCB1	NBN	PDE8B	NR0B1	ERCC8	CAV1	PWAR1	HESX1	NBEAL2	HTRA2	F7	EIF2B2	WDR19	GATA4	PROP1	GNRH1	FGG	STAT3	BMP15	NSMF	POLG	FSHR	IRF5	F10	DHX37	BLM	POR	HJV	BPTF	FSHB	OCA2	BMP2	AKT2	F2	SNRPN	FIGLA	OTX2	GGPS1	ATRX	UBAP1	ATM	HFM1	PRKCD	CDON	TRAF7	ZSWIM7	TTI2	SNCA	IL17RD	IL17RA	HLA-DRB1	POF1B	BSCL2	FGF8	ATP7B	AIRE	CDKN1A	SOHLH1	PRLR	PHKG2	IGF2	CEP290	ARMC5	PARK7	LRRK2	SEMA3A	ITGB3	B4GALNT1	NUMA1	STUB1	THOC6	MCM3AP	GPR101	FOXA2	XRCC2	SIM1	ANTXR1	FAS	COL25A1	PLAU	HSD17B4	FGA	BRD4	LIG4	NR3C1	PODXL	MKRN3	CHD7	FOS	NR5A1	HMGA2	F11	PHKA2	F13B	MRPS22	SOX3	DCC	MSTO1	FANCM	HSF2BP	TP53	HDAC8	WNT4	CLEC7A	BLOC1S5	HPS4	PAPSS2	PMM2	DNM1L	KISS1	PINK1	PDGFB	VPS13C	CDKN2B	CPE	PLIN1	ESR2	HLA-B	GDF9	TKT	PSMB8	PPARG	CYP11B1	GLI2	AKT1	PTPN11	SYCE1	EIF2B1	PRKACG	FASLG	POLG2	LMAN1	TBL1X	SLC25A13	POLR3H	TACR3	GALK1	MCM8	RARA	FLRT3	ERCC4	IL17F	HERC2	DIAPH2	SOX9	ROBO1	CDKN2C	HARS2	PRORP	CYB5A	BMPR1B	SEMA3E	NPAP1	FGFR1	HAMP	FGB	CISD2	NABP1	ZBTB16	PIK3CA	BNC1	TERT	WNT7A	SLC29A3	PLAG1	SNORD116-1	ANAPC7	RIN2	ABCD1	VAMP7	NPHP4	PDE11A	ANAPC1	CCR6	SRA1	BRAF	MSH4	NPM1	SMC3	AGGF1	MCFD2	ZMPSTE24	GP6	PEX10	SOST	ITGA8	HPS5	STAG3	GATA3	MAP3K1	CDKN1C	PRKACA	LIPE	SUFU	PDE4D	ERCC6	NIPBL	CASP10	SDCCAG8	CHP1	AARS2	TRMT10A	LHB	SOX10	PEX1	INVS	PCSK1	PHKB	POU1F1	DNAJC6	IL17RC	NPHP1	TBL1XR1	IQCB1	AGPAT2
HP_FEMALE_SEXUAL_DYSFUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEMALE_SEXUAL_DYSFUNCTION	GNRH1	HS6ST1	PODXL	CCDC141	PROK2	FGF17	CDH23	MEN1	HLA-B	COQ2	CHD7	UBAP1	DUSP6	CCN2	FGF8	FEZF1	TRAF3IP2	FGFR1	SNCA	IL17RD	IL17RA	HLA-DRB1	RTN2	CAV1	IKZF1	SEMA3A	DCC	PRKN	ABCD1	WDR11	HTRA2	UCHL1	KISS1R	SPRY4	HESX1	TACR3	CLEC7A	SOX10	CCR6	TAC3	NDNF	PARK7	LRRK2	ANOS1	NSMF	FLRT3	IL17F	AIP	IRF5	PROKR2	GNRHR	KISS1	DNAJC6	IL17RC	PINK1	VPS13C	SYNJ1	FSHB
HP_DYSPAREUNIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSPAREUNIA	HESX1	CCDC141	PROK2	FGF17	CDH23	CLEC7A	SOX10	MEN1	CCR6	HS6ST1	HLA-B	NDNF	CHD7	DUSP6	TACR3	CCN2	ANOS1	SPRY4	FGF8	FLRT3	FEZF1	IL17F	TRAF3IP2	AIP	FGFR1	IRF5	PROKR2	IL17RD	IL17RA	HLA-DRB1	CAV1	IL17RC	IKZF1	SEMA3A	DCC	WDR11
HP_INCREASED_FEMALE_LIBIDO	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_FEMALE_LIBIDO	GNRH1	HS6ST1	GNRHR	KISS1	TACR3	PROKR2	FGF17	TAC3	FGF8	WDR11	NSMF	PROK2	CHD7	FGFR1	KISS1R	SPRY4	DUSP6
HP_BIFID_URETER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIFID_URETER	COL18A1	PORCN	FIBP	PAK2	PBX1
HP_ENCHONDROMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENCHONDROMA	ACP5	PTH1R	PDE11A	RNASEH2A	PTPN11	PRKAR1A	IDH1	POLR1B	POLR1C	RNASEH2C	TREX1	LSM11	RNU7-1	POLR1D	IFIH1	TCOF1	IDH2	SAMHD1	COL2A1	ADAR	RNASEH2B
HP_HIP_SUBLUXATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIP_SUBLUXATION	GNB2	TRAPPC12	DDR2	THOC2	KIF22	NEPRO	LMNB2	BICRA	NFIX	EIF4A3	SLC35A2	TONSL	GNPTAB	PLOD1	IFIH1	ZNF407	B3GALT6	EIF2AK3	DHCR7	AFF4	OSTM1
HP_FLEXION_CONTRACTURE_OF_DIGIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLEXION_CONTRACTURE_OF_DIGIT	NLRP3	BCOR	CHRNG	CTCF	HES7	LMNA	TP63	SHH	IDS	FLNA	CASZ1	COL11A1	FBN1	IPO8	BMP4	FAT4	NEFL	WIPI2	ORC1	ADAMTS3	FBXO28	SETD2	SALL4	GNPTAB	PIGL	KLHL7	FZD2	CDT1	COL11A2	MEGF8	HOXD13	UBA1	HSPG2	FBXW11	TCTN3	TGDS	MMP2	MBTPS2	ZEB2	TGFBR2	PERP	ZMPSTE24	MED12	GJA1	NKAP	TPM2	SKI	KRT1	SLC26A2	KDM5B	PIEZO2	NALCN	DYM	DPM1	ZNF407	ORC4	MUSK	TUBA1A	TWIST2	MYH3	POLR3A	HS6ST1	CDC6	SLC35A3	DDR2	ZDHHC9	TNNI2	ERCC5	DHODH	CHN1	B9D2	NT5C2	TOR1AIP1	TBX3	KRT16	PRG4	PRDM16	MET	NUP88	SH3PXD2B	PPP2R5D	MKS1	MYL2	COL6A2	WDR11	ASXL3	APC2	RTL1	PDPN	BRPF1	CDC42	ANO5	ATP6V1A	GNRHR	HACD1	ZC4H2	MESP2	MYBPC1	PEX6	MAFB	NUP107	ROR2	H1-4	SATB2	STAC3	PAX3	KDM5C	IGHMBP2	SOX9	DLL3	MYO9A	MAF	CUL4B	EZH2	LAGE3	GABRD	MORC2	RTTN	NAA10	DSE	OSGEP	ALG12	CSGALNACT1	NSD1	SMS	ALX3	SCARF2	PITX1	KRT9	NSMF	GPC3	CHST3	CCDC32	ERCC6	TBX15	LMBR1	BHLHA9	SELENON	CDK13	CCDC22	MMP23B	POR	POLR3GL	ASXL1	ERCC1	SVIL	DVL3	GNRH1	CLCF1	DOK7	COL2A1	GPC4	WDR73	PHF6	DVL1	RIC1	ERLIN2	PROK2	DCHS1	SMAD3	CCN6	HUWE1	MAP3K7	TBC1D2B	DYRK1A	FGF8	NXN	ITGA7	FGFR3	GJA8	SLC29A3	LBR	LFNG	TLK2	FGF17	ACTA1	TUBB3	MAGEL2	SMARCAD1	THOC6	SYNE1	ALG8	COL6A1	AMER1	TRPV4	FLVCR1	TGFBR1	IKBKG	EIF5A	ADAT3	MAP3K20	SPART	ITCH	RPL10	PRDM5	BGN	COG5	CHD7	MEGF10	MYOD1	CDH3	MEG3	CCBE1	GPKOW	ATAD1	SPEN	OCRL	ARX	ECE1	ATPAF2	XYLT1	SMG9	DPH1	ORC6	WNT5A	SMOC1	SLC39A13	EFNB1	H4C9	KISS1	COL6A3	TRPS1	SNX14	MYL11	COL12A1	FBN2	ECEL1	DPAGT1	EXOSC5	DSP	CTDP1	TMEM70	GLUL	TNNT3	TPRKB	ERCC2	SUZ12	CANT1	CRKL	PSMB8	DUSP6	IDUA	SMC1A	LUZP1	L1CAM	SMAD4	EED	DLK1	ARPC4	ABL1	WDR4	KAT6B	PORCN	TGFB3	TACR3	ZNF469	BLTP1	TAC3	CNTN1	FHL1	KCNAB2	PIGN	GMNN	PHGDH	MAPK1	PEX2	PQBP1	IL6ST	ADAMTSL2	AUTS2	LIFR	NOD2	JUP	TBX2	NUP133	RERE	BCR	ANTXR2	RAB3GAP1	RAB23	SLC35A2	PRKCZ	SETBP1	CACNA1C	UPF3B	NOG	SPRY4	NEK9	EMG1	GDF5	TOR1A	FGD1	ALX1	COG1	KIF15	CRLF1	GLI3	PYROXD1	CAPN3	NUP188	KMT2B	LGI4	GJA5	TP53RK	TPM3	LMBRD2	GORAB	HINT1	UBE4B	FERMT1	C19orf12	PEX5	PLOD3	CDC45	MSL3	ACTG2	MED13L	EPB41L1	SLC18A3	FGFR1	KISS1R	COL3A1	LAMB3	KCNK9	ARID1B	PEX1	SIN3A	RIPPLY2	TBR1	TMEM218	RAPSN	MED25	FGFR2	LMX1B	PROKR2	FKTN	FIBP	KRT14
HP_ABNORMAL_LATERAL_VENTRICLE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LATERAL_VENTRICLE_MORPHOLOGY	ZIC2	KAT6B	ODC1	TUBB2B	ACP5	HS6ST2	TMEM147	KIAA0753	ERMARD	SNRPN	COG5	MPDZ	SMG9	ZIC1	DTYMK	RAB3GAP1	STAG2	SPG11	GRN	SLC35A2	ALG13	KDM6A	VRK1	KMT2D	ALDH6A1	SPRED2	SATB1	VPS51	CREBBP	FBXW11	PDHA1	TTC5	TAF8	PUS3	TUBA8	ZEB2	YY1	FANCI	LIPT2	KDM1A	PTPN23	NEK1	GCDH	GAN	CLCN3	GRIN1	TNFRSF11A	CCDC174	VPS13A	NDE1	MEF2C	LONP1	ANKRD11	NRCAM	GFM2	PSAT1	GLUL	SEC31A	PPP1R12A	MAPKAPK5	NDUFB11	WARS2	PIGG	DHCR7	SON	PEX10	PGAP3	COX7B	TTC26	PLXNA1	PIGA	ARSI	PPP2R5D	DHX37	CLTC	KIDINS220	KIAA0586	NCAPG2	RAC1	ASXL3	RNU7-1	ZNF462	CSPP1	AHI1	EZH2	TUBB3	YIPF5	DCX	RNU4ATAC	TAOK1	ALG2	MED25	HNRNPH1	TYROBP	ATP6AP2	USP18	NFIX	KLHL15	D2HGDH	ZNF148	EP300	HCCS
HP_COLPOCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COLPOCEPHALY	NRCAM	CSPP1	SEC31A	PPP1R12A	KAT6B	NDUFB11	ERMARD	TUBA8	MPDZ	RNU4ATAC	DHCR7	FANCI	PEX10	HNRNPH1	COX7B	PLXNA1	KDM1A	STAG2	ARSI	DHX37	KIAA0586	NCAPG2	ZNF148	NDE1	ANKRD11	ZNF462	HCCS
HP_TIP_TOE_GAIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TIP_TOE_GAIT	ALDH18A1	GFM2	SBF2	SGCA	MYPN	CRPPA	FKRP	ADSS1	AASS	DYSF	PI4KA	KY	SPTBN1	CYP2U1	ERLIN1	VAMP1	COL12A1	TMEM43	POMT1	KIF1C	MYH7	DYNC1H1	AGRN	MORC2	SPTLC1	SLC18A3	FKTN	PANK2	ALS2	GNB2	SLC39A14	LMNA	SPG11	H4C5	TPM2	FUS	KIDINS220	EMD	COL13A1	GNPTAB	HARS1	SYNE2	SGCG	PNPLA8	ARSA	COASY	PEX16	INPP5K	ATL1	KMT2B	HADHB	TLK2	DMD	AIFM1	VCP	PSAP	SLC25A1	FHL1	CHAT	HADHA	SMG8	KCNA1	B4GALNT1	YY1	DEAF1	SIGMAR1	SYT2	DDHD2	FBN1	SLC5A7	LMX1B	SNAP25	LRSAM1	BICD2	GJB1	SYNE1	CAPN3	MYO9A	MT-TE	TPM3
HP_INGUINAL_FRECKLING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INGUINAL_FRECKLING	PSENEN	SPRED1	NF1	POFUT1	POGLUT1	KRT5
HP_STIFF_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STIFF_SKIN	SMAD4	ADA2	SLC29A3	PSMB8	ZMPSTE24	LMNA	FBN1
HP_UNCOMBABLE_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNCOMBABLE_HAIR	SKIC3	PADI3	SKIC2	TGM3	HRURF	TCHH	TP63
HP_AUTOIMMUNE_ANTIBODY_POSITIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AUTOIMMUNE_ANTIBODY_POSITIVITY	ELANE	FOXP3	FCGR2B	RHD	CD247	LACC1	POU2AF1	CASP10	FAS	RASGRP1	ACP5	ADA2	STAT4	TLR7	STAT1	CSF2RA	IFNGR1	CLPB	UBA1	PRKCD	CYBC1	TNFAIP3	FCGR2A	RHAG	CTNNB1	DNASE1	PTPN22	POMP	CD244	TREX1	RHCE	MS4A1	SPIB	GFI1	CIITA	HLA-DRB1	IL2RB	DNASE1L3	ITCH	MMP2	NFKBIL1	NLRP1	IL2RA	COL4A6	TCIRG1	IRF5	TLR8	SRP54	SLC7A7	FCGR3B	CSF2RB	GRIN2A	IRAK1	SOCS1	STING1	MMEL1	ANKRD55	PGM3	NFKB2	PTPN2	BACH2	DEF6	IL10	IL12RB1	SPP1	ARPC1B	CARD10	THRB	FASLG	FADD	TOM1	RIPK1	CTLA4	TNPO3	COPA	IL12A	SLC22A4	ADA	COL4A5	PLCG2	TNFSF15
HP_PRIMITIVE_NEUROECTODERMAL_TUMOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMITIVE_NEUROECTODERMAL_TUMOR	PMS1	EDN3	PHOX2B	TGFBR2	GPC4	ASCL1	PMS2	PALB2	RERE	MLH1	GABRD	CHEK2	NUTM1	YY1	UBE4B	CASZ1	PRDM16	LUZP1	BMPR1A	SETD2	MAPRE2	SEMA4A	PRKCZ	SPEN	RET	MLH3	NF1	BRAF	PIK3CA	SKI	RUNX1	APC2	HSPG2	MSH2	FLI1	PDPN	NSD1	SDHB	RAF1	FAN1	TUBB	DICER1	TP53	GPC3	KCNAB2	MYO1H	MDM2	BRD4	MSH6	KEAP1	EPCAM	RPS20	KRAS	MMP23B	PTPN11	CDKN2A	BDNF	GDNF	KIF1B
HP_CENTRAL_PRIMITIVE_NEUROECTODERMAL_TUMOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_PRIMITIVE_NEUROECTODERMAL_TUMOR	CDKN2A	DICER1	TP53	KEAP1	CHEK2	MDM2
HP_CERVIX_CANCER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVIX_CANCER	STK11	CDKN1B	CXCR4	FGFR3	SRY
HP_BURKITT_LYMPHOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BURKITT_LYMPHOMA	XIAP	SH2D1A	RHOH	MYC	CASP10	PRKCD	FAS	RASGRP1	FASLG
HP_ABNORMAL_DRINKING_BEHAVIOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DRINKING_BEHAVIOR	NLRP3	CYP11B1	CACNA1D	NPHP3	HSD11B2	NPHP4	WFS1	KCNJ10	OTX2	DCDC2	SLC12A3	CLDN10	NKX2-1	CLDN16	IL6	CTNS	TMEM67	SLC41A1	AVPR2	ARNT2	LZTFL1	SLC5A2	LRIG2	DZIP1L	SOX3	NPHP1	CYP11B2	HESX1	BBS9	CLCNKB	SOX2	FGFR1	AQP2	INSR	CDC73	KCNJ5	CASR	BSND	AVP	CISD2	PTPN22	ITPR3	KCNJ1	IRF4	PKHD1	PROKR2	HNF1B	HPSE2	HNF1A
HP_CLINODACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLINODACTYLY	UBA2	PIGN	BCOR	WDR4	SEMA3E	ODC1	FANCB	VPS37D	IFT122	TBX1	PHF21A	NSD2	IL11RA	CTCF	CUL7	CPLANE1	UBE2T	DEAF1	DLK1	RTL1	CASZ1	COL11A1	KIAA0753	PIGY	BMP4	SMARCB1	RNU4ATAC	WIPI2	ORC1	PTPN11	POMP	PIGL	IGF2	IFT140	FZD2	EVC	CDT1	MEGF8	SPOP	HSPG2	GDF5	ATP2B1	TCF4	ZC4H2	TWIST2	SMARCA4	TGDS	KCNN3	LIG4	CHSY1	ANKRD11	MED12	GJA1	CCDC8	RRAS	OBSL1	ALG3	PCNT	BMP2	RBM10	STAMBP	SMC1A	RIT1	HNRNPR	PIEZO2	PHIP	DYM	CD96	ARID1B	BHLHA9	ORC4	KCNJ2	PALB2	NIN	PTH1R	BMPR1B	CREBBP	CDC6	NPR3	TOPORS	MLXIPL	SATB2	BRCA2	H3-3B	JAG1	DVL1	NARS2	TP63	TRIP13	FGFR3	AP1G1	RALA	AGO2	FGF10	BBS7	GDF1	PRDM16	STAG2	KNSTRN	SH3PXD2B	MKS1	TCF20	NKX2-5	C12orf57	IGF1	FKBP6	FLII	MAN1B1	RAD51C	NCAPG2	KIF7	KMT2A	ARID1A	COL2A1	POLR3A	TRIO	PDPN	TGFBR2	MAD2L2	CDC42	FOXP1	FANCA	RAI1	ATR	RUNX2	MED13L	GJA5	SLC2A10	GATA6	ATP6V1B2	CLIP2	PIK3R1	BRIP1	FIG4	GATA5	XRCC4	MAP1B	TRRAP	GATA4	RFWD3	SMARCD1	DPF2	ROR2	PDE6D	SPRED1	PAX3	KDM5C	RAD21	TBX5	PCGF2	SLC9A7	BUB3	KDM4B	TMEM147	SNORD115-1	CSGALNACT1	DLX3	CUL4B	ERMARD	SPRTN	NAA20	GABRD	SOX4	KLF13	PWRN1	NRAS	CHD7	GNB2	IGF1R	NAA10	EVC2	PWAR1	PAFAH1B1	COLEC10	SOX11	SALL1	SPRED2	ALG12	OFD1	CNOT2	BRCA1	UBE3B	HIC1	PACS1	TASP1	INPP5E	CDK10	ZFPM2	GRB10	WNT5A	ALX3	MEG3	REV3L	RB1	GPC3	FLT4	LTBP1	KIF15	CCDC32	TBX15	PAH	MECOM	B3GLCT	ATRX	EMG1	CDK13	CCDC22	MECP2	MMP23B	PLXND1	MAPK8IP3	TRMT10A	PRKACB	B3GALT6	BAZ1B	PAX1	ELN	DVL3	AKT1	KIFBP	POLA1	NOG	EP300	LZTR1	TRAF7	GPC4	KCNJ11	ATRIP	FLI1	USP7	MAGEL2	CHRNA7	FLNB	EIF4H	SHANK3	MTRR	XYLT1	CKAP2L	HUWE1	ERCC4	MCTP2	SOX6	SIN3B	RHOA	KDR	NXN	TCTN3	GJA8	PIGO	SLC29A3	SMARCE1	RBBP8	ZNF462	MBD5	SRCAP	EZH2	BRAF	PRR12	BRF1	NSMF	SPART	SIN3A	MASP1	AUTS2	NONO	PUF60	HNRNPH1	SNRPB	CCNQ	TBX4	SOS1	AMER1	TRAPPC9	TRPV4	LMNA	ACVR1	RSPRY1	DACT1	BUB1	FANCC	CNOT3	CEP152	BRD4	NEK1	HOXD13	ITCH	H19	LMNB2	BLM	RPL10	CLCN3	KCNK4	FGFR2	PNPLA6	QRICH1	SOX5	COG5	MKRN3	HMGA2	KCNJ5	RAB18	FGD1	CBL	SPEN	SSR4	AMMECR1	PIGV	RRAS2	METTL27	CDH1	STAG1	SKI	HDAC8	ORC6	NKX2-6	SIK3	EFNB1	H4C3	GTF2IRD1	MYOD1	G6PC3	BUB1B	WDR35	NARS1	KDM1A	FGF16	MRAS	SMARCA2	CEP57	POC1A	UBE3A	TRPS1	IHH	SNX14	MYL11	MAPK1	DPAGT1	FLNA	MYCN	EXOSC5	DSP	CITED2	PAICS	BCL7B	MAPRE2	WWOX	TRAIP	VPS13B	NPR2	MACROH2A1	TRIP12	SPECC1L	NCF1	HOXA13	CANT1	CRKL	FBXO11	TWIST1	PPP1R15B	IQSEC2	EXT2	LMX1B	RAB11B	RERE	LUZP1	UBR1	PIK3CD	ATG7	SMAD4	WDR19	RFC2	ABL1	COG8	PIGH	FANCD2	BRAT1	KAT6B	TBL2	GATA1	PACS2	KRAS	BLTP1	NUP107	RNF216	NFIX	GTF2I	OGT	FANCI	DONSON	KCNAB2	ABCC8	DDX11	BPTF	PIK3C2A	HERC2	SIAH1	SMARCC2	ZMYM2	ALDH1A2	GMNN	PHGDH	TFAP2A	MID2	CEP55	PQBP1	SUZ12	KDM6B	XRCC2	CENPE	CENPJ	MAF	CDH11	STX1A	HEATR3	CSNK2A1	HOXA11	RAB3GAP2	DNAJC30	KPTN	NPAP1	TBC1D24	ESCO2	JUP	NSUN2	ZNF292	FGFR1	TNNT3	BCR	NIPBL	SNRPN	POLE	YWHAE	KAT8	WNT7A	PCDHGC4	RAB23	TELO2	PLAG1	DLX5	SNORD116-1	EIF4A3	TFAP2B	PRKCZ	CACNA1G	NUP37	AFF2	PPP2R1A	RAC3	RBM8A	SOS2	NUP85	POR	IFT52	PTEN	ALX1	SMC3	FN1	FANCF	HDAC4	DCHS1	BUD23	PGAP2	SF3B4	RASA2	NEXMIF	NUP188	IRX5	RAF1	SHOX	MEF2C	SMOC1	MAP2K1	PKDCC	ARID2	MIA3	CDKN1C	CLCF1	RNF6	FANCM	PITX1	SLX4	UBE4B	KMT2B	DLEC1	INTU	PIGW	IFT43	PLK4	LEMD3	GTF2IRD2	LIMK1	CDC45	FANCL	PGAP3	DHPS	EPB41L1	TMEM216	FAT4	TMEM270	L1CAM	SLC35A1	FANCE	PUM1	FANCG	MED25	PIGS	FAM149B1	HEPHL1	YY1AP1	RAD51	TBCK	MAP3K7
HP_ABNORMAL_CIRCULATING_TESTOSTERONE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_TESTOSTERONE_CONCENTRATION	CPE	FSHR	POLR3A	GNRH1	HS6ST1	NR3C1	RBM28	DMRT3	SMARCE1	BMP6	CYP11B1	TRAF7	SUFU	PROK2	CHD7	DHH	NR5A1	DUSP6	AR	PIK3CA	BAP1	TERT	LEPR	SMARCB1	FGD1	WT1	ZFPM2	AKT1	NR0B1	GCNA	HFE	FGF8	WDR11	DCAF17	VAMP7	FGFR1	KISS1R	SPRY4	DHX37	WNT4	NR2F2	NF2	TACR3	GATA4	FGF17	ANOS1	LHB	INSR	GNAS	CYP17A1	TAC3	PRKAR1A	SRY	SMO	SEMA3A	NSMF	B4GALNT1	WWOX	SLC39A4	LEP	POLA1	GNRHR	KISS1	LGR4	PROKR2	SOX9	DMXL2	PDGFB	NDNF	HSD3B2	CYB5A	FSHB	MAP3K1
HP_INCREASED_SERUM_TESTOSTERONE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_SERUM_TESTOSTERONE_LEVEL	FSHR	POLR3A	WNT4	CYP11B1	NR2F2	INSR	GNAS	PRKAR1A	AR	HSD3B2
HP_ABNORMAL_MUSCLE_FIBER_PROTEIN_EXPRESSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MUSCLE_FIBER_PROTEIN_EXPRESSION	COL6A3	CRPPA	CRYAB	POMT1	POMT2	MYOT	FKRP	POMK	GMPPB	FHL1	LARGE1	TMEM43	DMD	LAMA2	DYSF	FKTN	LMNA	DAG1	COL6A2	CAV3	GFER	COL6A1	EMD	SYNE1	SYNE2	COL12A1	POMGNT1
HP_ABNORMAL_MUSCLE_FIBER_ALPHA_DYSTROGLYCAN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MUSCLE_FIBER_ALPHA_DYSTROGLYCAN	CRPPA	POMT1	POMT2	FKRP	POMK	GMPPB	LARGE1	FKTN	DAG1	POMGNT1
HP_ABNORMAL_ENDOMETRIUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ENDOMETRIUM_MORPHOLOGY	POLD1	MLH3	MSH2	MSH6	CDH1	PIK3CA	MLH1	SDHD	POLE	SDHB	BMPR1A	MSH3	USF3	PTEN	THOC6	NTHL1	KLLN	SLC6A17	PMS2	GREM1	EPCAM	AKT1	SDHC	SEC23B
HP_PROLONGED_BLEEDING_FOLLOWING_CIRCUMCISION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLONGED_BLEEDING_FOLLOWING_CIRCUMCISION	ITGB3	FGB	LMAN1	RBM8A	F2	F13A1	ITGA2B	F5	F13B	F8	FGA	FGG	MCFD2
HP_ORAL_CAVITY_BLEEDING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORAL_CAVITY_BLEEDING	PML	ZBTB16	NUMA1	F2	RACGAP1	F13A1	STAT5B	IRF2BP2	F5	F13B	BCOR	F8	TBL1XR1	FIP1L1	NPM1	KIF23	STAT3	PRKAR1A	RARA	F10	NABP1
HP_ABNORMAL_BOWEL_SOUNDS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BOWEL_SOUNDS	TYMP	IRF5	POLG	SDHD	CCN2	ATRX	SLC5A1	HLA-DRB1	CAV1	CCR6	DAXX
HP_ABNORMAL_LIVER_PARENCHYMA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LIVER_PARENCHYMA_MORPHOLOGY	BTNL2	PTRH2	BMPER	NPHP3	HLA-DRB1	JAK1	SLC25A13	PMM2	FOCAD
HP_TRUNCAL_TITUBATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRUNCAL_TITUBATION	FLVCR1	ITPR1	HYCC1	THG1L	BRAT1	SLC19A3	ACBD5
HP_CARDIOGENIC_SHOCK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIOGENIC_SHOCK	SDHA	NAA10	LMOD2	ATRX	ABCC6	MYL2	DAXX	RPL3L
HP_CHOLANGITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOLANGITIS	IGKC	CD40LG	REL	ABCB4	MED12	ITCH	KIF12	RFX5	IL21R	IL36RN	RFXAP	DCDC2	CLDN1	RFXANK	PKHD1	BCS1L	IFT140	IGHG2	CIITA	WDR35	DZIP1L
HP_CHOLANGIOCARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOLANGIOCARCINOMA	HFE	SEMA4D	GPR35	PKHD1	BMP6	DZIP1L	MST1	TCF4
HP_FLANK_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLANK_PAIN	TET2	APRT	CALR	JAK2	MPL	TBX18
HP_ABNORMAL_VASCULAR_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VASCULAR_PHYSIOLOGY	RASA1	EOGT	MT-ND4	COX5A	MGP	PROS1	TERT	ARSB	VPS37D	HLA-DRB1	ABCD4	CTCF	TREX1	FOXE3	CITED2	TET2	SFTPB	PDSS1	ZNF699	NOTCH1	IPO8	RNASEH2C	TLR4	TGFB2	HFE	KRAS	PLOD1	KIAA0319L	THPO	BRCC3	COX6B1	COX7B	MT-TL1	MAT2A	APP	FBN1	CCN2	DOCK6	ENG	THSD1	HSPG2	COL1A2	COQ2	RNASEH2B	SMAD9	MLXIPL	LBR	LOX	BMPR2	MYH7	PRTN3	USP8	TINF2	GLA	TGFBR1	CTNNB1	HLA-DPB1	FKBP6	TGFBR3	ACTC1	ANGPTL6	JAK2	MPL	HEY2	MT-ND6	COG1	SMARCAL1	SLC37A4	FOXP1	ACP5	HBB	GBA1	CDH23	SCARB2	MT-TS2	SLC4A1	RNF213	CLIP2	EPHB4	FIG4	USP48	FOXF1	TRRAP	IL12A-AS1	EIF2AK4	ALB	MT-TQ	GATA4	TGFBR2	LMNA	ENPP1	MYPN	TNNI3	MT-ND5	GATA6	BMP6	TNFSF11	SCNN1B	STAT4	TLR7	MYH11	GNB2	HLA-B	CCR6	IL12B	MLX	CAV1	COL3A1	MYBPC3	SFTPC	SERPINC1	CLCNKB	TNNT2	ACTB	CALR	HTRA1	FGFR1	RBPJ	ARHGAP31	COLGALT1	FLNC	CHST3	CLCN7	IRF5	PTPN22	LSM11	FGFR3	COL4A1	VAC14	BAZ1B	VCL	AFF4	ELN	XPNPEP2	AKT1	CACNA1D	NOTCH3	BTNL2	IRAK1	ATRX	SON	SNX10	EIF4H	NAA10	NT5E	ADA2	NDUFB10	MFAP5	FLNA	MT-TF	RNF125	CBS	KLRC4	NFU1	SLC29A3	PAM16	COX8A	GNAQ	PRKG1	SH2B3	HLA-DPA1	SCNN1G	VHL	P4HA2	COL5A1	TBX4	NDUFA8	IKBKG	SLC12A3	TBX20	GJA1	ABCC6	KCNJ5	PROC	THBD	IL10	STAT1	MYMK	MEG3	RNU7-1	RPL3L	METTL27	DLL4	XYLT1	ACTA2	TP53	ADAMTS13	MT-TH	KCNN4	GDF2	GTF2IRD1	G6PC3	F13A1	PIK3CA	SMAD4	XYLT2	ACTG1	SLC34A2	CTLA4	ERAP1	ACVRL1	SCN5A	MMACHC	NAGS	BCL7B	SLC2A10	TLL1	NCF1	FKBP14	KIF20A	STING1	LAMA2	MTHFR	IDUA	IFNGR1	BRAF	SARS2	NKX2-5	RFC2	SPP1	GUCY1A1	TBL2	SMAD2	NFIX	GTF2I	MED12	PIEZO1	COL1A1	F2	ALDH1A2	PIGN	RYR1	TERC	IL6ST	STX1A	NOD2	FSHR	DNAJC30	ALMS1	KCNK3	CD55	COL5A2	RNASEH2A	MYLK	COLQ	VPS33A	MT-CO1	CACNA1C	C4A	SFTPA2	IL12A	DLK1	IL23R	KRT18	MEFV	PTEN	F5	ATP13A3	PRIM1	NR3C1	AGGF1	NPPA	ZMPSTE24	BUD23	ATP5F1A	AGXT	SLC25A24	PPCS	BANF1	TGFB3	LIPT1	SCNN1A	LAMB2	LIFR	PIGA	UBE2A	MYH6	CCR1	MT-CO2	TTC26	NKX2-1	PLOD3	GTF2IRD2	LIMK1	IFIH1	DEF6	RTL1	NF1	SAMHD1	ADAR	TOM1	TMEM270	TCIRG1	PGM1	PLP1	UBAC2	MED25	PIK3C2A	MT-CO3	MUC5B	MT-TW	HRAS	CA2	F8	FAS	SMAD3	MT-ND1	HABP2
HP_NIGHT_SWEATS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NIGHT_SWEATS	STAT6	BCL2	SDHD	SLC25A13	HLA-DRB1	JAG1	BCL6	GATA2	TH	TSPOAP1	IFNGR1	NAB2	UBA1
HP_PERIPHERAL_HYPERMYELINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_HYPERMYELINATION	SBF2	NEFL	SOX10	PRX	PMP22	MPZ	SBF1	MTMR2	EGR2
HP_ABNORMALITY_OF_CENTRAL_NERVOUS_SYSTEM_ELECTROPHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CENTRAL_NERVOUS_SYSTEM_ELECTROPHYSIOLOGY	MT-ND4	DEPDC5	KCNMA1	CACNA1E	NLGN4X	APC2	SPATA5	EEF1A2	CDKL5	HECW2	SLC2A1	GABRA5	ST3GAL3	C9orf72	PURA	CACNB4	ALDH7A1	PIGY	NEFL	ABCA5	CAMK2A	AP3D1	VCP	ATP1A2	TBK1	EPM2A	SCN9A	PEX10	HCFC1	SLC39A8	SCN2A	YEATS2	PPT1	NTRK2	MECP2	ZEB2	ANKRD11	COX16	DOCK6	KCNQ3	UNC80	NDUFAF8	FDXR	SYNGAP1	MFSD8	GUF1	AP2M1	ARX	PRPS1	KRAS	CREBBP	CACNA1A	CARS2	NOTCH1	CPT1C	PRRT2	RUSC2	YWHAG	UPB1	GALC	CABP4	POMT2	SRPX2	PIGQ	FLII	AIMP1	PIK3CA	UBE3A	NMNAT1	TUBGCP2	TTPA	NPRL2	CHI3L1	EFHC1	ZNF526	ATN1	HTR2A	KIF1A	MCOLN1	RAI1	GNB1	SMC1A	GOSR2	KCNJ11	GRIN1	ASNS	MAP1B	LARGE1	GABRA2	SIK1	SETD1B	SCN1B	DPM2	SOX10	LETM1	MT-ND5	GPAA1	ATP7A	CUL4B	ERMARD	IREB2	LAGE3	KDM6A	GABRD	CHD2	FGF12	GABRB3	ARFGEF1	IQSEC2	SCN3A	HID1	GRM7	DDB2	DRD3	OPA1	PAFAH1B1	ALG11	SYT1	RNF13	ERCC2	HIC1	MADD	SLC25A1	SEMA6B	RBPJ	TBC1D24	JRK	GJC2	PHACTR1	ANTXR1	CNPY3	MTOR	MTMR2	SCN8A	TUBB2A	PSEN1	ALDH4A1	HCN1	SETBP1	SLC35A2	GMPPB	NRAS	PEX6	WDR73	MOGS	POMT1	STRADA	TIMM50	PIGG	PEX16	ATP6V1A	MARCHF6	NSF	SPTAN1	CRH	FGF13	TBL1XR1	SCN1A	SLC13A5	PTS	MT-TF	PDSS2	GABRA1	PIGO	GRIN2A	NPRL3	ARV1	MYD88	PEX1	TRAPPC11	SYT2	STUB1	FLCN	HNRNPU	FZR1	SYNJ1	SATB1	SNRPN	SLC1A2	ERCC5	PNPO	P4HTM	STARD7	CHMP2B	ASPA	WDR4	SACS	GRN	CILK1	NECAP1	TIMM8A	ATAD1	OTOF	CTBP1	ATP1A3	GABBR2	MT-TH	CDK5	FGFRL1	DHDDS	CLN8	CCDC47	WDR62	SLC25A22	RTN4R	GABRG2	PI4KA	LIPT2	AHDC1	DNM1	ERCC8	GNAO1	ADK	ARG1	SLC5A7	PRKAG2	PIDD1	GRIN2B	MAP2K2	GRIN2D	DPAGT1	CLN5	TICAM1	TPRKB	ABCC8	PEX19	MYH3	SH3TC2	ATXN1	FKTN	SCARB2	PPP3CA	CPLX1	ADGRV1	PEX13	NECTIN1	NHLRC1	GABRB2	BRAT1	AP1S2	ALG13	SQSTM1	ERCC6	CCDC88A	CHRNA2	PEX11B	CLCN2	CNTN2	SLC9A6	KCNA2	NUP133	PLAA	ST3GAL5	KMT2D	POMGNT1	SLC18A3	NDRG1	NBEA	MT-CO1	PRKCZ	BRAF	PEX12	SLC1A4	ABCD1	NSRP1	AP3B2	NLGN3	MED17	CLCN4	RPL10	ALG2	GNB5	ARHGEF9	FARS2	PDE2A	SNAP25	WWOX	PGAP2	NEXMIF	NUP188	PEX2	KCNB1	PRNP	CLTC	LONP1	PARS2	OGDHL	WDR45	STXBP1	FKRP	UBE4B	TGFB1	PEX26	PIGW	PIGA	ANKRD17	DHPS	FRRS1L	EXOC8	NLRP3	MDH1	MFF	SAMD12	CYFIP2	PLCB1	NTNG2	NEUROD2	CEP85L	NOTCH2NLC	TREM2	GAD1	MAP2K1	TYROBP	MT-CO3	GLUD1	SYN2	D2HGDH	TBCK	CPA6	ROGDI	MT-ND1	EOGT	NDUFA9	SZT2	IARS2	AASS	DEAF1	UGDH	CASZ1	CACNA2D1	CDK19	FBXO28	DPYD	KCNQ2	STX1B	PEX5	PLP1	PHGDH	MAPT	TRIM8	HSPG2	MT-TL1	HMGCL	TET3	ERCC4	NALCN	TLR3	ALG3	SUOX	ALDH5A1	ACTL6B	CELF2	DPM1	GFM2	NARS2	DAOA	NDP	LGI1	KCTD7	VAMP2	TRAPPC12	CNKSR2	PRDM16	DMXL2	CYP27A1	XPC	MT-ND6	NEU1	PDPN	FOXP1	CTNND2	LRPPRC	MT-TS2	LMNB1	ATP6V1B2	ZNHIT3	MT-TQ	NUP107	DAG1	ZNF148	SLC6A19	SPTBN1	ADRA2B	NACC1	SPTBN4	PRUNE1	CACNA1H	MORC2	GNB2	DIAPH3	NSD2	ARHGEF2	POGZ	OSGEP	EPG5	ATP6V0A1	SLC12A6	CHAT	SMS	ARHGAP31	MAPK10	KCNT1	TRAF3	PSAP	PTRH2	ADARB1	PIGT	AARS1	MGAT2	MMP23B	TRAK1	RMRP	ERCC1	PHF6	EP300	LSS	COQ2	NTNG1	CASK	KCNC2	LARS2	OCA2	PEX14	HRAS	TBC1D2B	OCRL	PIGP	PLPBP	PAX6	RELN	MPDU1	UNC93B1	VARS1	PCK1	EDNRB	GLYCTK	EIF2S3	PEX3	SLC44A1	CHRNA4	CACNA1B	FOXG1	PLCH1	DNM2	COL13A1	SPEN	PIGV	DLL4	SKI	VARS2	RTTN	ARFGEF2	GRIA3	AKT3	AARS2	CLCN6	PTPN23	BCS1L	PRODH	CLTRN	ERCC3	PSAT1	CHRNB2	CNTNAP2	SLC38A3	SLC25A10	VAMP1	UBTF	NGLY1	PCDH19	LUZP1	KCNT2	GABRB1	PPFIBP1	B3GALNT2	DOCK7	ACOX1	ATP10A	CUX2	KCNH1	AHSG	DOLK	KCNAB2	TFE3	MYO9A	NUS1	MAF	KCNA1	MTHFR	KPTN	ADGRG1	CERS1	RERE	CSTB	IER3IP1	SNIP1	DENND5A	LAMC3	DALRD3	XPA	ITGB6	TMEM106B	PDHA1	ALG14	ATXN10	RIPOR2	COMT	PRICKLE1	AFG3L2	APOL4	EMC1	TP53RK	APOL2	NF1	AGRN	KANSL1	MT-CO2	SLC25A46	CTNNA2	ALG1	PGAP3	MED13L	HIBCH	YWHAE	TRIT1	AIMP2	DCX	COX4I1	UBA5	PIGS	EBP	CUL3	CLTCL1	SHQ1	ASL	GRIA1	MT-TW	SLC6A1	NAXD	PNKP	PIGL
HP_ABNORMAL_PERIPHERAL_ACTION_POTENTIAL_AMPLITUDE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PERIPHERAL_ACTION_POTENTIAL_AMPLITUDE	SBF2	TFG	RFC1	ALS2	LITAF	EMILIN1	ATL3	DHX16	HK1	DNAJB6	SORD	NEFL	FXN	CADM3	MPV17	SPTLC2	RAB7A	MORC2	UQCRC1	SIGMAR1	LMNA	HSPB8	SPTLC1	ATXN1	NDRG1	SETX	BSCL2	KARS1	TRPV4	PMP2	SYT2	CCT5	GDAP1	VPS13A	ATL1
HP_TETRAPLEGIA_TETRAPARESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TETRAPLEGIA_TETRAPARESIS	SLC1A3	ALDH18A1	PNP	PRPS1	AASS	ARSA	ARX	FUS	FA2H	NAXE	PAFAH1B1	CARS2	KCNT1	AFF3	SOX4	STXBP1	PRUNE1	ERLIN2	NDUFS3	ALS2	PRF1	KCNJ6	BSCL2	HSD17B10	TNFRSF11A	SLC35A2	TRAPPC2L	KRAS	AUH	SDHB	L2HGDH	FAR1	TARDBP	LMX1B	TMEM222	PLP1	UCHL1	IFIH1	MRAP	GSS	SQSTM1	PSAP	MFSD2A	AGTPBP1	REEP1	PSEN1	ARFGEF2	ATP1A3	FGFR1	TRAPPC4	KCNJ18	CACNA1S	LIMS2	PHACTR1	WDR62	BCAP31	ATP1A2	SLC18A2	ADAR	GJA1	LIPT2	APOE	ALG3	NHLRC2	GM2A	NUP62	STAR	STAMBP	VCP	SARDH	SELENOI	COL4A1	PPOX	SOD1	TNR	GUF1	TBCE	PSAT1	LIPT1	GALC	LMNB1	NEK1	SLC25A10	LRP4	SLC19A3	NADK2	TBK1	SDHAF1	FBLN1	AIFM1	HINT1	CACNA1A	ATP6V1A	EARS2	ABCD1	SDHA	TACO1	RERE	SMC1A	TBCD	TXNRD2	C9orf72	COA8	NMNAT1	TFG	NFU1	RNU7-1	PDHX	EXOSC8	POLR3K	MT-ATP6	SDHD	DYM	MC2R	PRDM8	MRM2	EIF2S3	DOLK	GAD1	BCAS3	NEXMIF	UGP2	CHCHD10	MOCS1	NNT	KCNQ2	SLC1A2	DPYD	LYRM7	PNKP	PLA2G6	CA2	RANBP2	BUB1B	GBE1	GABRA3	NDUFA8
HP_KINETIC_TREMOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KINETIC_TREMOR	PIK3CA	ERCC3	FXN	MAOA	VLDLR	RFC1	KCNK4	KCNJ10	SPTBN1	RARS1	GJC2	SACS	QRICH1	ATP2B3	ATCAY	ARSA	SNCA	SMG9	PLA2G6	CCDC88C	PSAP	POLR3A	EPRS1	TGM6	ERCC6	CACNA1C	FMR1	UCHL1	GSS	ANO10	ABCB7	TARS1	NOTCH2NLC	ITM2B	SEMA6B	ITPR1	SLC25A46	POLG	CWF19L1	TMEM240	ATXN10	CAMTA1	PMM2	CARS1	TPK1	PEX10	FBXO7	XPNPEP3	PI4KA	LEMD2	GTF2H5	UFC1	PRICKLE1	SCARB2	TMEM63A	KCNN2	SLC6A17	CTDP1	ERCC2	RNU12	TMEM70	RNF113A	CSTB	ATM	KIF1C	SCP2	MPLKIP	AMACR	OPHN1	NKX2-1	ERCC8	TBP	SCYL1	HYCC1	SPTBN2	CACNA1A	POLR3B	KNSTRN	FARS2	PIK3CD	NFASC	VWA3B	POU4F1	GTF2E2	PPP1R15B	TMCO1	TMEM106B	TECR	PPP2R2B	ELOVL4	LMAN2L	NONO	ABHD12	ATXN2	LMNB1	ADPRS	AFG3L2	MRE11	NOP56	PNPLA6	TENM4	GJB1	PLP1	PTEN	HSD17B4	AKT1
HP_TITUBATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TITUBATION	FLVCR1	PITRM1	NKX6-2	AARS1	SPTBN1	EIF2AK2	GJC2	KIF1C	LAMA1	SIGMAR1	SLC19A3	SPTLC1	ALS2	LMNB1	ITPR1	IFRD1	HYCC1	PI4KA	SPG11	FUS	PLP1	HIBCH	VPS13A	TMEM63A	UCHL1	THG1L	BRAT1	KCNC3	MAG	ACBD5
HP_TREMOR_BY_ANATOMICAL_SITE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TREMOR_BY_ANATOMICAL_SITE	DNMT1	GBA2	SMN1	POLG	SLC12A6	CDC42BPB	AARS1	ITPA	SPTBN1	CAMTA1	EIF2AK2	GJC2	ADRA2B	MFN2	SETX	KIF1C	MORC2	ZFYVE26	ANO3	TBC1D24	NEFL	SPG11	NKX6-2	PEX6	PIK3R5	VRK1	PMP2	PMP22	PLP1	UCHL1	PPP2R2B	ZFR	TRIM8	TSHR	SPTLC1	MPZ	CACNA1G	NOTCH2NLC	SH3TC2	MARS1	GRIA3	TOR1A	YEATS2	MARCHF6	LAMA1	SMN2	ATP7B	GCK	IFRD1	PI4KA	SLC6A17	DRD3	PHIP	FGF14	ALS2	SAMD12	HIBCH	VPS13A	TMEM63A	PDK3	ITPR1	CARS2	CEP104	ERLIN2	PLA2G6	SCP2	COL6A3	FUS	RAB3GAP2	TRAPPC6B	C19orf12	KCNN2	TUBB4A	DDC	MYBPC1	PEX16	TFG	UBE3A	CTNND2	TAF1	SIGMAR1	LMNB1	STUB1	AFG3L2	SNRPN	NOP56	CNTN2	TENM4	GJB1	ABCB6	PGAP1	CIZ1
HP_FATIGABLE_WEAKNESS_OF_BULBAR_MUSCLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FATIGABLE_WEAKNESS_OF_BULBAR_MUSCLES	KBTBD13	KLHL41	MAP3K20	MATR3	OPTN	NEK1	CCNF	ERBB4	TPM3	NOTCH2NLC	DCTN1	NGLY1	DES	VAPB	PFN1	PON2	CFAP410	ANG	TBK1	UNC13A	SOD1	ATXN2	FUS	ACTA1	FIG4	MYL2	CHCHD10	TPM2	MT-CO3	PPARGC1A	MTM1	PRPH	ITGA7	DAO	TARDBP	VCP	COA8	NEB	GIPC1	ANXA11	MYPN	LPIN1	GLT8D1	UBQLN2	TREM2	DKK1	PON3	GMPPB	HACD1	NEFH	C9orf72	SQSTM1	SELENON	TAF15	GLE1	HNRNPA1	EPHA4	PON1	MT-CO1	CHMP2B
HP_FATIGABLE_WEAKNESS_OF_SWALLOWING_MUSCLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FATIGABLE_WEAKNESS_OF_SWALLOWING_MUSCLES	MATR3	OPTN	TARDBP	NEK1	VCP	CCNF	ERBB4	COA8	ANXA11	DCTN1	LPIN1	GLT8D1	UBQLN2	VAPB	PFN1	TREM2	PON2	DKK1	CFAP410	ANG	TBK1	UNC13A	SOD1	ATXN2	FUS	PON3	NEFH	C9orf72	FIG4	CHCHD10	SQSTM1	TAF15	GLE1	HNRNPA1	MT-CO3	PPARGC1A	MTM1	PRPH	EPHA4	PON1	MT-CO1	CHMP2B	DAO
HP_FATIGABLE_WEAKNESS_OF_RESPIRATORY_MUSCLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FATIGABLE_WEAKNESS_OF_RESPIRATORY_MUSCLES	SCN4A	MATR3	OPTN	CACNA1S	NEK1	CCNF	ERBB4	NEB	CHRNA1	DCTN1	DES	LRP4	VAPB	CHRNE	PFN1	PON2	CFAP410	ANG	TBK1	UNC13A	SOD1	ATXN2	FUS	ACTA1	FIG4	CHRND	CHCHD10	LMOD3	PPARGC1A	RAPSN	PRPH	COL13A1	AGRN	DAO	CHRNB1	TARDBP	VCP	ANXA11	TPM2	RNASEH1	DOK7	KCNE3	GLT8D1	UBQLN2	TREM2	RRM2B	CFL2	PON3	NEFH	C9orf72	SQSTM1	TAF15	GLE1	KLHL41	HNRNPA1	AK9	EPHA4	PON1	CHMP2B	MUSK
HP_FATIGABLE_WEAKNESS_OF_SKELETAL_MUSCLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FATIGABLE_WEAKNESS_OF_SKELETAL_MUSCLES	ACADM	TFG	MYPN	POMT1	NEB	LARGE1	ATRX	CHRNA1	USP8	POMT2	LRP4	CHRNE	HINT1	ACTA1	CHRND	TPM2	LDB3	LMOD3	RAPSN	COL13A1	AGRN	CHRNB1	TP53	KCNK9	FKRP	ORAI1	BRAF	DOK7	STIM1	GMPPB	SCN4A	NR3C1	CASQ1	CDH23	TOE1	CFL2	MINPP1	SYNE1	FLNC	USP48	KLHL41	AK9	TPM3	MUSK
HP_FATIGABLE_WEAKNESS_OF_DISTAL_LIMB_MUSCLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FATIGABLE_WEAKNESS_OF_DISTAL_LIMB_MUSCLES	LMOD3	TPM2	CFL2	ACTA1	LDB3	HINT1	NEB	KLHL41
HP_FATIGUABLE_WEAKNESS_OF_PROXIMAL_LIMB_MUSCLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FATIGUABLE_WEAKNESS_OF_PROXIMAL_LIMB_MUSCLES	CDH23	TP53	TFG	MYPN	CFL2	KCNK9	ACTA1	SYNE1	FLNC	TPM2	USP48	NEB	KLHL41	ORAI1	BRAF	LMOD3	ATRX	STIM1	TPM3	USP8	NR3C1	CASQ1
HP_RESPONSE_TO_DRUGS_ACTING_ON_NEUROMUSCULAR_TRANSMISSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESPONSE_TO_DRUGS_ACTING_ON_NEUROMUSCULAR_TRANSMISSION	LAMB2	ALG2	DPAGT1	ALG14	GMPPB	COLQ	GFPT1
HP_SLOW_PUPILLARY_LIGHT_RESPONSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLOW_PUPILLARY_LIGHT_RESPONSE	LAMB2	GALC	COL18A1	PSAP	PMP22	MPZ	CHRNA3	PRPS1	TULP1	COLQ
HP_COLLECTIONISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COLLECTIONISM	HTR2A	PSEN1	TREM2	C9orf72	SLC6A4	TMEM106B	MAPT	SQSTM1	VCP	GRN	CHMP2B
HP_INAPPROPRIATE_CRYING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INAPPROPRIATE_CRYING	GALC	PIGS	PSAT1	PHGDH	KIF15	PSAP	FOXG1	ALG9	IQSEC2	FOCAD	GABBR2	TBC1D2B	CDKL5	SLC19A3	MECP2	SLC18A2	NTNG1	SMC1A
HP_PUNDING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PUNDING	SLC2A1	GABRB3	JRK	GABRA1	GABRG2	CACNA1H
HP_VISUAL_AGNOSIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VISUAL_AGNOSIA	CEP85L	C9orf72	MAPT	PSEN1	TMEM106B	CHMP2B	TREM2	ABCD1	GRN
HP_PERSEVERATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERSEVERATION	C9orf72	PRNP	MAPT	GRN	CIC	FUS	TMEM106B	TREM2	CHMP2B	TBK1	SQSTM1	USP7	TARDBP	TACO1	CHCHD10	NOTCH3	VCP	NONO	PSEN1	NPC2	TTPA
HP_HIGHLY_ELEVATED_CREATINE_KINASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGHLY_ELEVATED_CREATINE_KINASE	ANO5	POPDC3	PYGM	LPIN1	DPM3	LAMA2	MT-CO1	CRPPA	MT-CO3
HP_ABNORMALITY_OF_MUSCLE_SIZE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_MUSCLE_SIZE	AMPD2	CHCHD10	FKRP	ARSB	VPS37D	VCP	POU1F1	NEMF	BMP1	MTMR14	CUL4B	HSPB1	HS2ST1	OPA1	SDHD	POMT1	ZBTB20	LRP12	NEFH	GPC4	ZFP57	MFN2	GNE	GBF1	CHRNA1	SPG11	FARS2	NEFL	TPM2	LMNB2	RTN2	SALL4	EHMT1	ALDH18A1	GNPTAB	RYR1	LMOD3	PRPH	SGCG	DGUOK	PGAP1	SEC23B	CCDC115	SPTLC1	VMA21	SH3TC2	FHL1	LIMS2	CNBP	SLC25A46	LETM1	MSTN	KLC2	SMCHD1	BSCL2	DYSF	COL6A1	COMP	DAG1	HYMAI	UBA1	SLC25A21	VPS33A	NAGA	TUBA1A	COL6A2	SGCD	TBCE	JAG2	MUSK	POLR3A	TPO	CPT1A	ZEB2	REEP1	EXOSC9	KIF1A	DVL1	ERBB4	RPS6KA3	CPT1C	CHN1	GLE1	USP8	TOR1AIP1	WARS2	WNK1	FDX2	PRPS1	PMP22	ERGIC1	ERCC8	LMNA	MYL2	IL6ST	GMPPB	NDUFAF6	FKBP6	SLC26A4	BVES	SOD1	C9orf72	PHKA1	MGME1	ATAD3A	GDAP1	HNRNPA2B1	LARGE1	CHRNE	HSPG2	POMGNT1	KDM5C	DMD	PRX	LHX3	PYGM	PIK3R5	HK1	KLHL41	PIK3CA	TTN	SLC39A13	CYP7B1	COL4A1	CEP126	TDP1	ABHD12	NEK9	SCN4A	POMGNT2	PON3	MINPP1	NOP56	COLEC11	PNPLA6	USP48	CAVIN1	BICD2	DYNC1H1	ERBB3	MAFB	MAN2B1	CRPPA	SRY	STAC3	COA7	EXOSC3	IGHMBP2	SOX10	SMN1	DHX16	PAX8	SLC52A3	NGLY1	MYH7	SPRTN	AGTPBP1	TTPA	PFN1	TSHR	TBK1	FUCA1	ANO5	ATP6V1B2	PNPT1	FOXG1	INPP5K	SELENON	TARDBP	ITGA7	SGCB	SLC25A1	WNT5A	ZBTB24	INSR	POLG	GPC3	HSPB3	SPEG	FLNC	SQSTM1	MTMR2	HSPB8	CAV3	ATXN1	PLXND1	HEXB	ALS2	MT-TE	COG7	CCT5	PON1	BAZ1B	BIN1	PDK3	DARS2	ATP8A2	TK2	DOK7	SLC52A2	MPZ	CCNF	SHOX	PHF6	UBAP1	MICU1	DCTN1	SDHAF1	SLC25A19	EIF4H	PTEN	H4C11	DNM1L	ARSI	SIGMAR1	SURF1	TTC8	CHRND	PUS1	SLC7A7	CARS1	TWNK	PHKG2	SCAPER	SPART	THRA	CEP290	HINT1	DUOX2	TRAPPC11	SYT2	SMARCB1	STUB1	OGDH	ASCC1	HBB	SNRPN	GARS1	CAV1	FKTN	AIP	FLVCR1	NDUFA8	PNKP	CD28	SLC33A1	NEK1	CPSF3	MED25	NKX2-5	ABCC8	POLRMT	TMEM43	SACS	TSHB	KIF5A	PEX7	DHH	PFKM	TNXB	UNC13A	C19orf12	MYMK	MEG3	CPLANE1	EGR2	EMD	RBM28	ERCC6	SETX	SLC12A6	SYNE2	METTL27	COASY	MBD5	CNTNAP1	SGCA	AGRN	AIFM1	MAG	COQ2	TGFB1	NDUFS4	SYNE1	PEX5	NEB	CCDC47	FBXO38	RAB7A	PEX1	ADK	SLC5A7	SNX14	GRIA3	PRKAG2	EXOSC8	SLC5A5	FIG4	PLIN1	BCL7B	GPR35	SLC46A1	SFXN4	KY	IDS	CFAP418	NCF1	BBS1	NUP88	SBF1	DNM2	FITM2	FUS	ATXN2	PPARG	SDCCAG8	SMAD4	ACTB	ARCN1	TFG	HRAS	LITAF	POMT2	TTC19	ALG3	PAX7	PIK3R2	RASA1	AP1S2	GLB1	TIA1	TOE1	VAPB	NEU1	AGL	ALG6	SLC9A6	ASAH1	CHMP2B	ROR2	HNRNPA1	CIZ1	HNRNPK	FIBP	DUX4	ATRX	PLAGL1	GAA	SCO2	TRIM32	KIF1C	ERLIN2	COLQ	SLC18A3	NDRG1	TIMMDC1	ZFYVE26	ATP1A1	SETBP1	SDHB	VRK1	ABCA1	KCNH1	CHRNB1	B3GALNT2	MKKS	MAP3K20	DLK1	YARS1	BRAF	CIDEC	HARS1	UBQLN2	B4GALNT1	NR3C1	RAI1	NPPA	RRM2B	BUD23	IFRD1	PEX10	MT-ATP8	GAN	SNAP25	ACTA1	PYROXD1	NEXMIF	COL6A3	COL2A1	PLP1	DCAF8	GJB1	MYOT	POMK	HESX1	LAMB2	TPM3	TUBB2B	LIPE	SCYL2	SDHA	TYMP	LEMD3	HYCC1	KCNMA1	TIMM8A	TBCK	MATR3	AKT1	CD59	TCAP	IDUA	RNASEH1	CAPN1	RAPSN	SLC25A4	JAG1	ACTN2	KIF1B	GNAS	UNC45B	ACADSB	ATL1	STIM1	BBIP1	NDUFA9	CHRNG	C2orf69	FBXL4	NKX2-1	LRP4	FLNA	IPO8	CEP19	LDB3	NARS2	MORC2	IFT140	SUCLG1	DNA2	MECP2	CTNS	TRAF3IP2	PLEKHG5	ATP6V0A2	NPHP1	FAM111B	ZC4H2	BBS5	TBC1D23	KAT6A	DNMT3B	YARS2	KBTBD13	FLRT1	GFPT1	MLXIPL	VAMP1	ERLIN1	IYD	TBX3	YY1	FGD4	FRG1	PON2	LTBP4	SCYL1	AGA	PQBP1	DUOXA2	RTL1	JPH1	ARID1A	CAPN3	HNRNPDL	WRN	MME	NALCN	MYPN	MED13L	CDH23	CLIP2	HACD1	LRSAM1	TAF15	PLEC	FBLN5	VWA1	GYG1	LAMA2	RXYLT1	BBS2	PHYH	SVBP	MT-TL1	TBX5	ATL3	GBA2	ADSS1	SLC16A2	TNNT1	SPTBN4	MPV17	ISCU	AARS1	PDE8B	TG	KLHL9	CDKN1C	KRT5	AFG3L2	CDCA7	PRKAR1A	VPS13D	VLDLR	INPP5E	PIGA	CHAT	MYH14	WDR81	REV3L	PNPLA2	SMN2	TCF4	MTRFR	RETREG1	PTRH2	ADARB1	HELLS	INF2	AFF4	ELN	B4GAT1	IFT27	APTX	WASHC5	MARS1	SIL1	MLIP	HUWE1	MDH2	MAP3K7	COL25A1	DHTKD1	RNF125	MRE11	COL13A1	DAO	GUSB	ARMC5	AMPD1	ATXN3	BBS4	KCNA1	KCNN3	MYH3	GPR101	FOXE1	DNAJB2	ALG8	KCNQ1OT1	ENTPD1	KRT14	COG8	DALRD3	NDUFA12	EPHA4	SDHC	SLC5A6	TRMU	CLCN1	SUCLA2	FXN	CTLA4	TPI1	MYMX	MYBPC1	FOS	SPTLC2	MYOD1	RNF170	MCCC2	PHKA2	POP1	DPM3	SCN9A	BBS10	BBS12	PPARGC1A	TRIP4	PMP2	MSTO1	KLHL40	AR	TNFRSF1B	TP53	ATP7A	TRPV4	COL7A1	LZTFL1	ADSL	BAG3	NDE1	DES	GTF2IRD1	GNS	SMARCA4	TREM2	ANG	VPS13A	AK9	COL12A1	FBN2	SPAST	ACADM	SCN5A	PIP5K1C	WDPCP	FKBP14	STING1	PSMB8	CFAP410	LMX1B	TBCD	MKS1	RFC2	RBCK1	PYCR2	TBL2	GATA1	PIGW	UBE3A	STAT1	IGF2	GTF2I	NOTCH2NLC	ANXA11	GLT8D1	PROP1	ANTXR2	PSMG2	MYO9A	KCNQ1	STX1A	ATM	DNAJC30	LHX4	SNIP1	USF3	IBA57	HMGA2	PEX6	IFT74	PRUNE1	B4GALT7	RBM8A	PDE11A	MAN2C1	GIPC1	POPDC3	NBN	MTAP	ARL6	SBF2	PIEZO2	TNR	NIPA1	OPTN	STT3A	MST1	CYP27A1	PRKACA	IFT172	MYF6	CADM3	RMRP	KANSL1	GBE1	POLR2A	CA8	BBS7	KCNJ11	PLOD3	GTF2IRD2	LIMK1	LAMP2	BBS9	CHP1	TMEM270	SMPD1	SEMA4D	KCNK9	FUZ	PHKB	PIK3C2A	PIGS	SEPTIN9	ALG9	KLLN	AGPAT2	DNAJC19
HP_HAND_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAND_MUSCLE_WEAKNESS	SBF2	PMP22	MATR3	BSCL2	LAMB2	MYH7	TIA1	CHRNA1	MFN2	GARS1	LRP4	CHRNE	CADM3	HINT1	MARS1	MORC2	COLQ	GDAP1	BICD2	NEFL	CHRND	LMNA	LDB3	DCTN1	HARS1	SQSTM1	RAPSN	CAV3	COL13A1	AGRN	CHRNB1	FLNC	REEP1	YARS1	DOK7	SCN4A	PNPLA2	TK2	DYSF	HSPB3	GNE	POLG	AK9	GJB1	GYG1	NEB	PDK3	MUSK
HP_PORTAL_VEIN_THROMBOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PORTAL_VEIN_THROMBOSIS	MET	PIEZO1	KCNN4	NOTCH1	SERPINC1	SLC4A1	CTNNB1	JAK2	MPL	TET2	PIGM
HP_SPLANCHNIC_VEIN_THROMBOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPLANCHNIC_VEIN_THROMBOSIS	PIEZO1	NOTCH1	SERPINC1	SLC4A1	CASR	CFTR	PRSS2	PIGM	EPAS1	CPA1	MET	KCNN4	PIGA	CD55	SPINK1	CTNNB1	JAK2	MPL	TET2	CTRC	PRSS1
HP_ABSENT_CIRCULATING_B_CELLS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_CIRCULATING_B_CELLS	IGLL1	SPI1	BTK	SLC39A7	FNIP1
HP_DEFECTIVE_T_CELL_PROLIFERATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEFECTIVE_T_CELL_PROLIFERATION	CD3E	MRTFA	LIG1	WIPF1	RASGRP1	CTPS1	TGFB1
HP_LARGE_INTESTINAL_POLYPOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_INTESTINAL_POLYPOSIS	MLH1	RNF43	MBD4	POLD1	APC	PIK3CA	MUTYH	SDHD	POLE	SDHB	SMAD4	BMPR1A	DICER1	TP53	CHEK2	MDM2	USF3	PTEN	PMS2	AXIN2	NTHL1	KEAP1	KLLN	MSH3	CDKN2A	GREM1	EPCAM	AKT1	SDHC	ENG	FLCN	SEC23B
HP_MICROPHALLUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROPHALLUS	SAMD9	TOE1	RTTN	CDKN1C	IGF2	THOC2	MINPP1	CILK1	OPHN1	TACR3	FANCF	PLAG1	SIN3A	GATA4	TRRAP	HMGA2
HP_HYPERPLASTIC_CALLUS_FORMATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPLASTIC_CALLUS_FORMATION	KRT6A	KRT6B	KRT17	IFITM5	KRT16
HP_INCREASED_CIRCULATING_INSULIN_LIKE_GROWTH_FACTOR_1_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_INSULIN_LIKE_GROWTH_FACTOR_1_CONCENTRATION	PRKAR1A	PDE11A	GPR101	IGF1R	AIP	MEN1
HP_ELEVATED_RED_CELL_ADENOSINE_DEAMINASE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_RED_CELL_ADENOSINE_DEAMINASE_LEVEL	RPS29	RPS20	TSR2	RPS27	RPL27	RPL35A	ADA2	RPL35	RPS28	RPS24	RPS26	RPL26	RPS19	RPL15	RPS17	RPS7	RPL18	RPL11	GATA1	RPL31	RPS10	RPS15A	RPL5
HP_ABNORMAL_ERYTHROCYTE_ENZYME_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ERYTHROCYTE_ENZYME_LEVEL	RPS29	RPS20	TSR2	PHKG2	RPS27	RPL27	RPL35A	ADA2	RPL35	PIGA	PKLR	RPS28	ADA	RPS24	KHK	RPS26	ALAD	PHKA2	RPL26	RPS19	RPL15	RPS17	RPS7	RPL18	GALT	RPL11	GATA1	RPL31	VPS13A	RPS10	RPS15A	PRPS1	RPL5
HP_FLATTENED_FEMORAL_EPIPHYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLATTENED_FEMORAL_EPIPHYSIS	TRPS1	CCN6	COL9A1	COL2A1	GNPTG	KIF22	TRPV4	TONSL	SLC39A13	UFSP2	TBX4	SLC26A2	ACAN
HP_LOWER_LIMB_METAPHYSEAL_IRREGULARITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_LIMB_METAPHYSEAL_IRREGULARITY	COL10A1	CSPP1	CFAP410	KIAA0586	TRPV4	RSPRY1	SBDS	RPL13	DNAJC21	SRP54
HP_ABNORMALITY_OF_THE_ANTERIOR_COMMISSURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ANTERIOR_COMMISSURE	MACF1	TUBB3	RERE	ZEB2	DCC	CEP85L
HP_FLARED_LOWER_LIMB_METAPHYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLARED_LOWER_LIMB_METAPHYSIS	COMP	POLR1A	COL11A2	EZH2	TRPV4
HP_UPPER_EXTREMITY_JOINT_DISLOCATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_EXTREMITY_JOINT_DISLOCATION	BRD4	EXTL3	SOX9	RAD21	FLNB	DVL1	GDF5	CLCN3	BMP1	NEDD4L	FZD2	COL5A2	FBN1	B3GALT6	AFF3	NIPBL	SRCAP	TMTC3	FLNA	EXOC6B	CDC45	ORC1	COL27A1	GSC	AEBP1	PRKAR1A	DVL3	XYLT1	CDT1	NOG	HDAC8	ORC6	ARID1B	CSGALNACT1	WNT5A	ARFGEF2	CHST3	SLC39A13	SCARF2	SMC3	MAP1B	B4GALT7	SLC26A2	TBX15	LRP4	SKI	SMC1A	CD96	KIF22	ORC4	HSPG2	CDC6	ASXL1	SHOX	NOTCH2	SMOC1	ERCC1	CREBBP	EP300	MACROH2A1	CHRNG	NGLY1	PITX1	CANT1	MAFB	MAP3K7	SALL4	NXN	ERMARD	IFITM5	GPC6	ATR	DONSON	B3GAT3	RNU4ATAC	COL1A2	HNRNPH1	COL1A1	APC	COL5A1	LMX1B	GMNN	ARF1	ROR2
HP_LOWER_EXTREMITY_JOINT_DISLOCATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_EXTREMITY_JOINT_DISLOCATION	UBA2	CHRM3	ZIC2	KAT6B	IARS2	FANCB	VPS37D	GDF5	CUL7	PLCH1	UBE2T	MYH8	ACTA1	TGIF1	TMTC3	IPO8	NODAL	GNPTAB	PLOD1	RYR1	FZD2	DPYSL5	SIX3	ATP6V1A	SIX1	TRIM8	DHCR7	SLC35A3	SLC12A2	GLI3	ATP6V0A2	GP1BB	LONP1	SLC26A2	ARFGEF2	TPM2	ZIC3	GJA1	RREB1	COL6A1	CCDC8	DLL1	OBSL1	CFL2	SMC1A	POMT2	GAS1	CD96	PALB2	COL6A2	STIL	SHH	FLNA	HK1	CREBBP	MLXIPL	FOXH1	BRCA2	POMT1	FGF8	CHRNG	LARGE1	PIEZO2	AARS1	ERGIC1	COL1A1	TBX1	PPP2R5D	MYL2	COLEC11	BPNT2	IL6ST	FKBP6	HDAC4	RAD51C	TBX4	RUNX2	HSPG2	COL12A1	MAD2L2	FANCA	INPP5K	ATR	COL6A3	CHST11	CDON	SLC2A10	RECQL4	GLI2	MACF1	CLIP2	HACD1	BRIP1	AEBP1	FIG4	KANSL1	ZC4H2	ARF1	RFWD3	EYA1	LMNA	DHODH	ATAD1	EXOSC3	SOX9	RAD21	RNU4ATAC	FLNB	LETM1	FGFR1	CPLX1	EBP	ABCC9	KDM6A	STXBP1	ADAMTS2	GSC	SLC6A5	KMT2D	NSD2	FBLN5	BRCA1	UBE3B	CSGALNACT1	SLC25A1	CHAT	GMPPB	B3GALT6	MAP1B	GPC3	LTBP1	CHST3	PYCR1	PTRH2	KIF22	SELENON	PRKACB	VAC14	COMT	BAZ1B	ELN	ERCC1	AKT1	EP300	FUT8	SEC24C	GPC4	TPM3	NOTCH2	FBLN1	FLI1	EIF4H	SIL1	XYLT1	NAA10	ERCC4	MCTP2	C12orf57	COL25A1	COL2A1	ITGA7	ERMARD	COX8A	OCRL	ALDH18A1	MYH7	THRA	PUF60	HNRNPH1	SYT2	SNRPB	SYNE1	COL5A1	DISP1	FANCC	ARNT2	ATP7A	BRD4	MAP3K20	GLRB	CLCN3	COL3A1	AFF3	COL5A2	DSTYK	EXOC6B	COL13A1	PTCH1	CTBP1	METTL27	DVL3	HPRT1	TDGF1	HDAC8	WNT5A	FGFRL1	TONSL	SMOC1	COL1A2	CCDC47	GTF2IRD1	YY1	MBTPS2	SLC5A7	WNT7A	FBN2	BICD2	ECEL1	MAB21L2	BCL7B	SEC31A	NCF1	MASP1	VAMP1	MYH3	NGLY1	CANT1	EFEMP2	LMX1B	SLC6A9	TBCD	RFC2	FANCD2	TBL2	GEMIN4	HACE1	FKRP	NFIX	GTF2I	GLRA1	FHL1	IFIH1	FANCI	TMEM251	TFE3	NKX3-2	MYO9A	XRCC2	STX1A	DNAJC30	SLC10A7	DVL1	NEB	NEDD4L	TNNT3	ATP6V1E1	OSGEP	ZNF469	MKKS	CEP85L	SLC18A3	YWHAE	HIRA	TELO2	HOXA11	COLEC10	STAG2	EIF4A3	RBM8A	ARVCF	ADAMTSL2	PTEN	ALG9	TOR1A	SMC3	EIF2AK3	FANCF	PAFAH1B1	LRP4	ZMPSTE24	BUD23	DNAJC21	SNAP25	SMO	SF3B4	KLHL41	SHROOM4	PKDCC	PYCR2	UBE2A	FANCM	SLX4	AGRN	TTC26	SCYL2	NIPBL	GTF2IRD2	POLR3B	LIMK1	FANCL	USP9X	LMOD3	PIGL	TBX15	TMEM270	GPHN	JMJD1C	NSDHL	B3GAT3	FANCE	FANCG	OFD1	GORAB	APC	CLTCL1	PORCN	RAD51	UFD1	MAP3K7
HP_ABNORMAL_PERIOSTEUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PERIOSTEUM_MORPHOLOGY	IL1RN	FAM20C	GALNT3	SLCO2A1	KL	FGFR2	COL1A1
HP_ANGULAR_CHEILITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANGULAR_CHEILITIS	KRT6A	KRT6B	GJB2	KRT17	AMN	KRT16	SREBF1	DSC3	CUBN	CAST	GJB6
HP_WEAKNESS_OF_FACIAL_MUSCULATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WEAKNESS_OF_FACIAL_MUSCULATURE	KLHL40	MAP3K20	SMARCE1	FKRP	SEMA3E	HACD1	VCP	YARS1	CHRND	CFL2	TREX1	MTMR14	GJC2	POMT1	LRP12	MYMX	MYL2	ACTA1	LRP4	SIX1	GAN	MEGF10	FKTN	MYMK	TK2	PEX13	NEFL	PLEC	TPM2	MYPN	TTN	COL13A1	RYR1	LMOD3	SOST	MTM1	NARS2	CNTNAP1	LRP5	TCIRG1	AGRN	UBA1	DNA2	TUBB6	RRM2B	SLC18A3	SYNE1	TGFB1	SH3TC2	PEX3	MYH7	BAG3	NEB	CNBP	SMO	DBH	SMCHD1	PEX1	HLA-DRB1	SHMT2	PI4KA	OSTM1	CLCN7	TWNK	SLC5A7	ASAH1	POMT2	BMS1	AK9	SLC25A21	PDGFB	POLG	HOXB1	ANO5	DNM2	COL6A2	UBA2	KY	HK1	JAG2	BIN1	GMPPB	MUSK	KBTBD13	SBF2	GFPT1	YME1L1	CRPPA	CHRNG	GJA1	LARGE1	EYA1	VAMP1	COL12A1	PEX5	CHRNA1	GLE1	SLC52A3	GIPC1	LAMA2	GDAP1	FRG1	BAP1	ZC4H2	COX6A2	SPEG	AKT1	DCTN1	PEX16	MGME1	DES	CHRNE	PEX6	POLG2	PABPN1	NF2	ZFHX4	PRRT2	DNMT3B	ANKH	TRPV4	ABCA1	CAPN3	CHKB	DOK7	KLHL41	DNAJB6	CHD7	EBF3	NOTCH2NLC	MPZ	SUPT16H	MSTO1	CACNA1A	BICRA	TFAP2A	GSN	MYO9A	NOD2	COL6A3	MYL1	SLC12A6	SLC25A4	PEX19	ADGRG1	SRPX2	ADSS1	DLL4	SCO2	SIX5	SLC39A14	ALG2	SQSTM1	SPTBN4	DMPK	PEX2	ATP1A2	COLQ	PIK3CA	TRIM32	RILPL1	TERT	ACTN2	TOR1A	SMARCB1	ADCY6	CHRNB1	SELENON	CRYAB	CHCHD10	SLC25A1	IRF2BPL	ITGB4	CHAT	REV3L	SCN4A	PTRH2	GNE	FLNC	SNAP25	MTMR2	COL4A1	PLXND1	MT-TE	SGCD	DPAGT1	MTRFR	BTNL2	CLCF1	SLC52A2	TPM3	XRCC2	LAMB2	SURF1	PEX10	TRAF7	SUFU	CADM3	SLC19A3	DNM1L	MT-TN	PEX11B	SALL4	SNX10	ADA2	OPA1	ANXA11	SYT2	PEX14	RAPSN	ITGA7	NFU1	CRLF1	NUTM2B-AS1	RNASEH1	TUBB3	ALG14	PUF60	PTDSS1	TNFSF11	SUCLA2	PEX12	KIF1B	LRIF1	SLC25A42	PEX26	AMER1	COL25A1	ACADS	SCN1A	COL6A1
HP_INCREASED_INTERVERTEBRAL_SPACE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_INTERVERTEBRAL_SPACE	ACP5	SLC26A2	PLCB3	EXTL3	TRPV4	TMEM53
HP_RETINAL_THINNING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_THINNING	CABP4	NYX	CACNA2D4	LAMA1	RHO	PRPH2	COL2A1	PDE6B	RIMS2	LRIT3	PROM1	KIF3B	TRPM1	GRM6	GRK1	SLC24A1	HLA-A	PCYT1A	CYP4V2	ABCA4	CNGB3	SAG	GPR179	ELOVL4	CACNA1F	CNGA3	POMGNT1	SLC6A6	CFAP418	ALDH3A2	GNAT1	GNB3
HP_ABNORMAL_CIRCULATING_GONADOTROPIN_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_GONADOTROPIN_CONCENTRATION	FSHR	NANOS1	SRY	CYP11A1	DMRT3	SMARCE1	PNLDC1	POU1F1	SHOC1	SNRPN	FSHB	KLHL10	TAF4B	DHH	LHX4	NR5A1	ZMYND15	OTX2	KISS1R	AR	PIK3CA	BNC1	TERT	PSMC3IP	SMARCB1	FGD1	NUP107	ZFPM2	MRPS22	NR0B1	GCNA	SYCP3	FMR1	VAMP7	DHX37	MAGEL2	TDRD9	FAM111A	POR	GATA4	BAP1	CYP17A1	MSH4	NSMCE2	CNBP	SMO	SPIDR	SOHLH1	WWOX	NHLH2	CBX2	LGR4	LHCGR	PDGFB	LARS2	PRDM13	FANCM	STAG3	TEX14	OCA2	MAP3K1	CPE	ZSWIM7	CCDC34	ESR2	FOXL2	TEX15	FIGLA	SYCE1	HESX1	GDF9	ESR1	HFM1	C14orf39	TRAF7	WT1	SUFU	ERCC6	KISS1	AKT1	NDN	PPP2R3C	MCM9	XRCC2	MEIOB	FKBP6	NF2	LHX3	BMP15	POLR3H	TEX11	ANOS1	LHB	MCM8	GNRH1	SEMA3A	MSH5	PROP1	DIAPH2	POLA1	CFTR	PNPLA6	SOX9	DMXL2	CDH23	CYB5A	BMPR1B	HSD17B4
HP_DECREASED_CIRCULATING_GONADOTROPIN_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_GONADOTROPIN_CONCENTRATION	CPE	MAGEL2	NF2	SMARCE1	LHX3	SNRPN	POU1F1	ANOS1	LHB	BAP1	HESX1	FSHB	GNRH1	SMO	SEMA3A	TRAF7	SUFU	OCA2	LHX4	PROP1	OTX2	KISS1R	NHLH2	PIK3CA	TERT	NDN	KISS1	SMARCB1	LGR4	AKT1	PNPLA6	DMXL2	PDGFB	PRDM13
HP_DECREASED_CIRCULATING_FOLLICLE_STIMULATING_HORMONE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_FOLLICLE_STIMULATING_HORMONE_CONCENTRATION	CPE	NF2	SMARCE1	LHX3	POU1F1	ANOS1	BAP1	HESX1	FSHB	SMO	SEMA3A	TRAF7	SUFU	LHX4	PROP1	OTX2	KISS1R	NHLH2	PIK3CA	TERT	KISS1	SMARCB1	LGR4	AKT1	DMXL2	PDGFB	PRDM13
HP_ABNORMAL_CIRCULATING_FOLLICLE_STIMULATING_HORMONE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_FOLLICLE_STIMULATING_HORMONE_CONCENTRATION	CPE	SRY	CYP11A1	DMRT3	SMARCE1	ESR2	FOXL2	POU1F1	FIGLA	NR5A1	SHOC1	HESX1	FSHB	GDF9	C14orf39	TRAF7	SUFU	SPIDR	LHX4	OTX2	KISS1R	AR	ERCC6	PIK3CA	BAP1	TERT	ZSWIM7	KISS1	SMARCB1	FGD1	WT1	ZFPM2	AKT1	NR0B1	GCNA	PPP2R3C	MCM9	VAMP7	FKBP6	DHX37	NF2	LHX3	FAM111A	POR	GATA4	ANOS1	LHB	ZMYND15	CYP17A1	MCM8	PSMC3IP	MSH4	NSMCE2	CNBP	SMO	SEMA3A	MSH5	PROP1	WWOX	NHLH2	DIAPH2	CBX2	LGR4	SOX9	DMXL2	XRCC2	PDGFB	PRDM13	FANCM	STAG3	CYB5A	BMPR1B	BNC1	MAP3K1
HP_ABNORMAL_CIRCULATING_ANDROGEN_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_ANDROGEN_LEVEL	FSHR	NR3C1	CYP11A1	DMRT3	SMARCE1	ALMS1	BMP6	ZNRF3	PRKAR1A	CHD7	DHH	NR5A1	AR	PIK3CA	TERT	SMARCB1	FGD1	ZFPM2	NR0B1	GCNA	HFE	MRAP	VAMP7	SPRY4	DHX37	WNT4	POR	GATA4	BAP1	INSR	GNAS	CYP17A1	SRY	SMO	TP53	NSMF	B4GALNT1	WWOX	SLC39A4	STAR	KISS1	LGR4	DCAF17	PDGFB	NDNF	CTNNB1	HSD3B2	FSHB	MAP3K1	CPE	POLR3A	GNRH1	HS6ST1	RBM28	CYP11B1	TRAF7	SUFU	PROK2	DUSP6	LEPR	WT1	AKT1	TXNRD2	CDKN2A	FGF8	WDR11	FGFR1	KISS1R	NFKB2	CLN3	NR2F2	NF2	TACR3	FGF17	ANOS1	LHB	TAC3	MC2R	SEMA3A	LEP	POLA1	GNRHR	NNT	PROKR2	SOX9	DMXL2	ALG6	CYB5A
HP_INCREASED_CIRCULATING_ANDROGEN_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_ANDROGEN_CONCENTRATION	FSHR	POLR3A	TERT	CLN3	WNT4	TP53	CYP11B1	NR2F2	ALMS1	INSR	GNAS	CDKN2A	PRKAR1A	AR	ALG6	ZNRF3	CTNNB1	HSD3B2
HP_DECREASED_CIRCULATING_ANDROGEN_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_ANDROGEN_CONCENTRATION	CPE	GNRH1	HS6ST1	RBM28	CYP11A1	DMRT3	SMARCE1	BMP6	TRAF7	SUFU	PROK2	CHD7	DHH	NR5A1	DUSP6	PIK3CA	BAP1	TERT	LEPR	SMARCB1	FGD1	WT1	ZFPM2	AKT1	NR0B1	GCNA	HFE	FGF8	WDR11	DCAF17	VAMP7	FGFR1	KISS1R	SPRY4	NFKB2	DHX37	NF2	POR	TACR3	GATA4	FGF17	ANOS1	LHB	CYP17A1	TAC3	SRY	SMO	SEMA3A	NSMF	B4GALNT1	WWOX	SLC39A4	LEP	POLA1	GNRHR	KISS1	LGR4	PROKR2	SOX9	DMXL2	PDGFB	NDNF	HSD3B2	CYB5A	FSHB	MAP3K1
HP_ERYTHEMATOUS_PAPULE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERYTHEMATOUS_PAPULE	PSENEN	KRT5	DCLRE1C	KIT	COL7A1	HAVCR2	POFUT1	KRT14	POGLUT1	MEFV
HP_ABNORMAL_SERUM_INSULIN_LIKE_GROWTH_FACTOR_1_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SERUM_INSULIN_LIKE_GROWTH_FACTOR_1_LEVEL	ADAT3	RBM28	CTSK	SIK3	SMPD1	KIAA0753	MED12	PDE11A	PGM1	GPR101	STAT5B	SOX3	AIP	MEN1	GHSR	PRKAR1A	GHR	IGF1	GHRHR	IGF1R	MCTP2	MPDU1	GALT	GH1	DCAF17	IGFALS	ALG12	NFKB2
HP_DECREASED_SERUM_INSULIN_LIKE_GROWTH_FACTOR_1	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SERUM_INSULIN_LIKE_GROWTH_FACTOR_1	ADAT3	RBM28	CTSK	SIK3	SMPD1	KIAA0753	MED12	PGM1	STAT5B	SOX3	GHSR	GHR	IGF1	GHRHR	MCTP2	MPDU1	GALT	GH1	DCAF17	IGFALS	ALG12	NFKB2
HP_ABNORMAL_CIRCULATING_INTERFERON_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_INTERFERON_CONCENTRATION	TOM1	UNC13D	PTPN2	CD247	POLA1	IL2RB	STAT1	RNASEH2A	IL2RA	PSMB8	PRF1	RNASEH2C	STXBP2	TREX1	STX11	SP110	LSM11	RNU7-1	IFIH1	STAT4	SAMHD1	ADAR	RNASEH2B	PTPN22	ANKRD55
HP_INCREASED_CIRCULATING_INTERFERON_GAMMA_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_INTERFERON_GAMMA_CONCENTRATION	UNC13D	PTPN2	RNASEH2C	STXBP2	CD247	TREX1	STX11	LSM11	RNU7-1	IFIH1	IL2RB	STAT4	SAMHD1	ADAR	RNASEH2A	IL2RA	RNASEH2B	PSMB8	PTPN22	ANKRD55	PRF1
HP_NON_SMALL_CELL_LUNG_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NON_SMALL_CELL_LUNG_CARCINOMA	SPRED1	FASLG	PIK3CA	NDUFAF6	ZNRF3	SLC22A18	BAP1	KRAS	TP53	PRKAR1A	MAP3K8	EGFR	BRAF	TERT	ERBB2	ERCC6	CASP8	CDKN2A	CTNNB1	CYP2A6	IRF1	PRKN	PPP2R1B
HP_ABNORMAL_PROPORTION_OF_CLASS_SWITCHED_MEMORY_B_CELLS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PROPORTION_OF_CLASS_SWITCHED_MEMORY_B_CELLS	PIK3CD	REL	PRKCD	LRBA	FNIP1	ICOS	SOCS1	HYOU1	CTNNBL1	PLCG2	IL21	LCP2	CD19	TET2	IRF2BP2	IL6R
HP_SPOKEN_WORD_RECOGNITION_DEFICIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPOKEN_WORD_RECOGNITION_DEFICIT	C9orf72	PSEN1	MAPT	CHMP2B	GRN	HSD17B10	TREM2	VCP	GRIN2A	TMEM106B
HP_CHOROID_PLEXUS_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOROID_PLEXUS_CARCINOMA	CDKN2A	TP53	CHEK2	SMARCB1	MDM2
HP_ABNORMAL_PLATELET_AGGREGATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PLATELET_AGGREGATION	ITGB3	HPS6	ITGA2B	BLOC1S3	GP1BB	RASGRP2	BLOC1S5	VWF	HPS3	CISD2	GP9	TBXA2R	GP1BA	KCNJ1	GATA1	DTNBP1	MYH9	EPHB2	MGAT2	IKZF5	CALR	AP3B1	ABCG8	SH2B3	HPS5	NBEAL2	FLI1	PLA2G4A	GFI1B	LCP2	GUCY1A1	THPO	RUNX1	P2RY12	PLAU
HP_GLUCAGONOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLUCAGONOMA	GCGR	CDKN2C	MEN1	CDKN2B	CDKN1B	CDKN1A
HP_PANCREATIC_ENDOCRINE_TUMOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATIC_ENDOCRINE_TUMOR	GCGR	KCNJ11	MEN1	MAFA	TSC2	IFNG	TSC1	CDKN2C	CDKN1B	CDKN2B	CDKN1A	VHL	CCND1
HP_PRIMARY_PERITONEAL_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMARY_PERITONEAL_CARCINOMA	MRE11	CHEK2	BRIP1	TP53	RAD50	RAD51D	RAD51C	BRCA1	PALB2	PTEN	BARD1	RAD51	BRCA2	NBN
HP_CUTANEOUS_MYXOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTANEOUS_MYXOMA	PRKAR1A	PRKACA	PDE11A	PDE8B	GNAS
HP_NEUROMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEUROMA	NF1	CCM2	PDCD10	NF2	KRIT1
HP_OSTEOCHONDROMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOCHONDROMA	FGFR3	EXT1	COL2A1	GLI3	SOX6	EXT2
HP_PILOMATRIXOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PILOMATRIXOMA	CTNNB1	CREBBP	DICER1	APC	KEAP1	EP300
HP_PULMONARY_CARCINOID_TUMOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_CARCINOID_TUMOR	CDKN2C	SDHD	CDKN1B	CDKN2B	ATRX	MEN1	CDKN1A	LMNA	DAXX
HP_SOFT_TISSUE_SARCOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SOFT_TISSUE_SARCOMA	SPRED1	PTCH2	BRAF	SMARCE1	FAM20A	PRLR	BUB3	FH	TSC1	SPTBN1	SDHD	APC	CEP57	SDHB	NF1	REST	FAS	EPHB4	PDGFRB	FAM20C	USF3	SLC22A18	PIK3CA	TERT	RAD54B	NRAS	SMARCB1	NBN	PDE8B	ABCA5	PTPN11	MC1R	DICER1	ATP6V1B2	CDKN1B	PTEN	TSC2	FLCN	KCNH1	SEC23B	MLH1	FLNA	PRKAR1A	PDE11A	RASGRP1	MSH2	MSH6	BAP1	PTPN12	MCC	IFNG	BMPR1A	SMO	TP53	SOS1	PDGFB	BUB1B	FOXC2	MDM2	COL4A6	MTAP	IL6ST	KIT	FGFR3	SDHC	CDKN2A	CDKN2B	MLH3	PAX3	KRAS	MAP2K1	MEN1	NOTCH3	LRP1	ANTXR2	ASPSCR1	AKT1	AURKA	BUB1	DCC	TRIP13	CTNNB1	PRKACA	PRKCD	TRAF7	CHEK2	SUFU	ELMO2	SRC	CASP10	TLR2	PTPRJ	CCND1	HRAS	DLC1	SSX1	FASLG	CDKN1A	PTCH1	GJC2	COL1A1	NF2	PDGFRL	CDC73	KCNN3	DHCR24	COL4A5	PLCD1	KEAP1	FOXO1	KLLN	CDKN2C	PLA2G2A	GREM1	KRT17	FLT4	RSPRY1	EP300	BAX	AXIN2	PAX7	SSX2
HP_ABNORMAL_VISUAL_ELECTROPHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VISUAL_ELECTROPHYSIOLOGY	ADGRV1	BBIP1	CERKL	PCYT1A	FSCN2	RP1	LCA5	MT-TS2	RGR	IDH3A	FAM161A	TULP1	PRPF4	PNPLA6	RPGRIP1	TKFC	GUCA1B	IDS	AIPL1	SLC24A1	SPATA7	ZNF699	PRCD	TPP1	ABCA4	SPG11	PRPF6	BBS10	BBS12	TTLL5	CEP19	PRPF31	TIMM8A	SCAPER	CABP4	IMPDH1	TUB	RAB18	IFT140	SLC7A14	ELOVL4	RDH12	PCARE	IQCB1	GNAT1	COX6B1	IMPG2	RPE65	ARSG	NDUFS4	EYS	NPHP1	LZTFL1	MYO7A	BEST1	CLRN1	CACNA2D4	PDE6A	BBS5	PDE6C	ESPN	GRM6	GRK1	PPT1	RHO	LRAT	ADAR	GALC	OSTM1	HADHA	ALG3	MFF	BBS2	REEP6	NUP62	PDE6D	PEX1	PRPF3	RBP3	RPGR	TRPM1	ATP1A3	PDE6G	IMPG1	TIMP3	POLG	CFAP418	CLN5	TBC1D20	SSBP1	IDH3B	GUCA1A	CRB1	KIAA1549	PSAP	WDPCP	IFT172	ARL3	RS1	HSD17B4	CDH23	CNGB3	NEK2	USH1C	BBS1	LAMA2	RP2	RAB3GAP2	CYP4V2	RP9	ATXN1	NR2E3	PRPS1	OFD1	AGBL5	GNAT2	SDCCAG8	PIEZO2	RD3	MKS1	NMNAT1	PRPH2	CLN3	CC2D2A	PEX12	CRX	PROM1	RNF216	ACOX1	CEP104	CNGB1	TUBB4B	PLA2G6	MECR	SLC25A4	MCOLN1	WWOX	TOPORS	CDHR1	PDE6H	ERCC6	TTC8	RLBP1	GNB5	USH2A	USH1G	SAG	USP45	CACNA1F	DHDDS	ARL6	CNGA3	GNB3	CEP290	OPA1	IFT88	TNFSF11	GUCY2D	SNRNP200	CNGA1	POMGNT1	TRIM32	TTPA	ARSA	KCNJ13	ROM1	NDRG1	ARHGEF18	MFRP	AGK	GPR179	ERCC8	CHM	HARS1	SEMA4A	CLCC1	ARHGEF2	IFT74	CAPN5	MFN2	PDE6B	MKKS	ATF6	TLCD3B	NRL	RDH11	KIZ	FXN	TYR	CLCN7	GJC2	CA4	ARL2BP	NOTCH3	ZNF513	RP1L1	CIB2	ZNF408	GDF6	RAB3GAP1	CWC27	WHRN	PCDH15	EMC1	LRIT3	IFT27	KIF3B	OPN1LW	CYP27A1	MOGS	KLHL7	COQ2	PRPF8	SNX10	OPN1MW	BBS7	HGSNAT	BBS9	CEP78	PDSS2	OPN1SW	AHI1	DHX38	NYX	MT-ATP6	MERTK	BBS4	TCIRG1	AAAS	ATXN3	RDH5	CLN8	ZNHIT3	POGZ	LARGE1	PDZD7	SLC25A22	MPDU1	VSX1	MAK	AHR	FLVCR1	SUCLA2
HP_UNDETECTABLE_LIGHT_ADAPTED_ELECTRORETINOGRAM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNDETECTABLE_LIGHT_ADAPTED_ELECTRORETINOGRAM	PDE6C	GNAT2	CNGA3	ATF6	CNGB3	RPGR	PDE6H
HP_ABNORMAL_FULL_FIELD_ELECTRORETINOGRAM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FULL_FIELD_ELECTRORETINOGRAM	PDE6C	RS1	LRIT3	GRK1	KIF3B	GUCY2D	POMGNT1	IDS	MCOLN1	SLC24A1	CYP4V2	PROM1	GNAT2	MFRP	NR2E3	SAG	GPR179	CACNA1F	RHO	RPGRIP1	CABP4	IMPDH1	CLRN1	RP1	RPE65	USP45	OPN1SW	GNAT1	PDE6H	NYX	CACNA2D4	PDE6B	MT-ATP6	TTC8	ATF6	ABCA4	TRPM1	ZNF513	RGR	PRPH2	GRM6	PPT1	LRAT	ADAR	RLBP1	PCYT1A	RDH5	ALG3	NUP62	ACOX1	LARGE1	RPGR	AIPL1	CERKL	CNGA3	CNGB3	CFAP418	RP9	BEST1	IDH3B	GNB3
HP_ABNORMAL_DARK_ADAPTED_ELECTRORETINOGRAM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DARK_ADAPTED_ELECTRORETINOGRAM	CABP4	NYX	CACNA2D4	RHO	RS1	SAG	ABCA4	GPR179	CACNA1F	PDE6B	LRIT3	GRK1	TRPM1	GRM6	SLC24A1	CFAP418	RLBP1	GNAT1	GNB3
HP_REDUCED_AMPLITUDE_OF_DARK_ADAPTED_BRIGHT_FLASH_ELECTRORETINOGRAM_A_WAVE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_AMPLITUDE_OF_DARK_ADAPTED_BRIGHT_FLASH_ELECTRORETINOGRAM_A_WAVE	CABP4	NYX	CACNA2D4	RHO	SAG	GPR179	PDE6B	LRIT3	CACNA1F	TRPM1	GRM6	GRK1	SLC24A1	CFAP418	GNAT1	GNB3
HP_EXUDATIVE_VITREORETINOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXUDATIVE_VITREORETINOPATHY	CTNNB1	LRP5	ZNF408	TSPAN12	BAP1	VCAN	FZD4	NDP
HP_CHORIOCAPILLARIS_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHORIOCAPILLARIS_ATROPHY	CYP4V2	ACVRL1	GUCY2D	GUCA1A	PRPH2	CRB1	TIMP3
HP_ABNORMALITY_OF_FOVEAL_PIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FOVEAL_PIGMENTATION	HMCN1	APOE	SLC38A8	CFHR3	CTNNA1	CFHR1	IMPG1	RAB28
HP_MACULAR_THICKENING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_THICKENING	TRNT1	KLHL7	IDH3A	ARHGEF18	TSPAN12	TREX1	LRP5	C1QTNF5	NR2E3	PRPH2	RHO	PRPF31	REEP6	HLA-A	DHDDS	PRPF8	NRL	RDH5	PDE6G	CYP4V2	NF2	MFRP	ZNF408	NLRP3	ARL3	FZD4	CTNNB1	POMGNT1	KIAA1549	OAT	APC	RP9	RLBP1	NDP	RP1L1	NOD2	VHL	CCND1
HP_YELLOW_WHITE_LESIONS_OF_THE_MACULA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_YELLOW_WHITE_LESIONS_OF_THE_MACULA	IMPG2	IMPG1	ABCA4	APOE	ELOVL4	CNGB3	PRPH2	EFEMP1	PROM1	CFH	HMCN1	CFI	CFHR3	CFHR1	ALDH3A2	BEST1	TIMP3
HP_RETINOSCHISIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINOSCHISIS	CLCN2	NR2E3	ACTG1	MFRP	OAT	ACTB	RS1
HP_YELLOW_WHITE_LESIONS_OF_THE_RETINA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_YELLOW_WHITE_LESIONS_OF_THE_RETINA	ELOVL4	CFH	LCA5	LRP5	PRPH2	ALMS1	RPE65	PROM1	TREX1	HMCN1	GUCY2D	TUB	PRPF8	BEST1	ABCA4	APOE	RLBP1	ZFYVE26	FBLN5	MFRP	ABCC6	NDP	GUCA1A	RDH5	CFHR3	XYLT1	ALDH3A2	FAM111A	CFI	NMNAT1	TINF2	TIMP3	IMPG2	TMEM98	LRAT	CC2D2A	CTNNA1	EFEMP1	C1QTNF5	RHO	RB1	IMPG1	IFT172	CNGB3	KCNJ13	ESPN	CTC1	FZD4	NEU1	XYLT2	AGXT	SPATA7	TSPAN12	CFHR1
HP_MODERATELY_REDUCED_VISUAL_ACUITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MODERATELY_REDUCED_VISUAL_ACUITY	DNM1L	IMPG1	RAC1	LRP5	OPA1	IMPG2
HP_HETERONYMOUS_HEMIANOPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HETERONYMOUS_HEMIANOPIA	PIK3CA	BAP1	TERT	CTNNB1	SMARCB1	NF2	SMARCE1	CDH23	AKT1	BRAF	MEN1	PDGFB	SMO	TRAF7	SUFU	AIP
HP_PARACENTRAL_SCOTOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARACENTRAL_SCOTOMA	CFH	CYP4V2	CFI	ACO2	HKDC1	EFEMP1	RLBP1
HP_RING_SCOTOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RING_SCOTOMA	TRNT1	FLVCR1	ARSG	RPGR	RLBP1	RP2
HP_VISUAL_ACUITY_TEST_ABNORMALITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VISUAL_ACUITY_TEST_ABNORMALITY	PIK3CA	BAP1	TERT	SMARCB1	NF2	SMARCE1	AKT1	DHX38	POU3F4	TUBB3	C1QTNF5	PDGFB	SMO	TRAF7	APC	PAX6	LRP5	SUFU
HP_COLOR_VISION_TEST_ABNORMALITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COLOR_VISION_TEST_ABNORMALITY	PDE6C	GNAT2	CNGA3	ATF6	OPN1SW	CNGB3	FA2H	RPGR	PDE6H	AFG3L2
HP_ABNORMAL_VISUAL_FIELD_TEST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VISUAL_FIELD_TEST	PIK3CA	BAP1	TERT	CTNNB1	SMARCB1	NF2	SMARCE1	AKT1	BRAF	CDH23	PDGFB	SMO	TRAF7	MT-ATP6	SUFU
HP_ABNORMAL_POSTERIOR_SEGMENT_IMAGING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_POSTERIOR_SEGMENT_IMAGING	TRNT1	RPGR	KLHL7	ARL6	IDH3A	ATF6	TLCD3B	EFEMP1	PROM1	KIF3B	PDE6C	CFI	PRPF31	HLA-A	PRPF8	RLBP1	SLC24A5	RAX2	GNAT2	IFT172	BBS1	TTLL5	SELENOI	PMM2	CFH	GUCY2D	POMGNT1	SLC6A6	GUCA1A	CLCC1	KIAA1549	CNGA3	PRPH2	CNGB3	ARSG	CFAP418	AIRE	CWC27	CCDC28B	CLEC3B	PDE6H	TIMP3
HP_ABNORMAL_FUNDUS_AUTOFLUORESCENCE_IMAGING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FUNDUS_AUTOFLUORESCENCE_IMAGING	RPGR	KLHL7	ARL6	IDH3A	TLCD3B	EFEMP1	PROM1	KIF3B	CFI	PRPF31	PRPF8	RAX2	IFT172	BBS1	TTLL5	CFH	GUCY2D	POMGNT1	GUCA1A	KIAA1549	PRPH2	ARSG	CFAP418	AIRE	CWC27	CCDC28B	TIMP3
HP_ABNORMAL_OPTICAL_COHERENCE_TOMOGRAPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_OPTICAL_COHERENCE_TOMOGRAPHY	TRNT1	GNAT2	ATF6	RPGR	SELENOI	PMM2	PDE6C	GUCY2D	SLC6A6	GUCA1A	CLCC1	CNGA3	PRPH2	CNGB3	HLA-A	RLBP1	CLEC3B	SLC24A5	PDE6H	TIMP3
HP_PHOTORECEPTOR_LAYER_LOSS_ON_MACULAR_OCT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHOTORECEPTOR_LAYER_LOSS_ON_MACULAR_OCT	TRNT1	SLC6A6	CLCC1	HLA-A	PMM2
HP_ABNORMAL_FOVEAL_MORPHOLOGY_ON_MACULAR_OCT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FOVEAL_MORPHOLOGY_ON_MACULAR_OCT	GUCY2D	GUCA1A	PRPH2	RLBP1	CLEC3B	SLC24A5
HP_PERIFOVEAL_RING_OF_HYPERAUTOFLUORESCENCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIFOVEAL_RING_OF_HYPERAUTOFLUORESCENCE	RAX2	KLHL7	IFT172	TTLL5	TLCD3B	EFEMP1	PROM1	CFH	GUCY2D	GUCA1A	CFI	PRPH2	PRPF31	AIRE	PRPF8
HP_HYPERAUTOFLUORESCENT_MACULAR_LESION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERAUTOFLUORESCENT_MACULAR_LESION	ARL6	BBS1	TLCD3B	EFEMP1	CFH	GUCY2D	POMGNT1	GUCA1A	CFI	PRPH2	ARSG	CFAP418	CCDC28B
HP_RETINAL_NEOVASCULARIZATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_NEOVASCULARIZATION	TREX1	LRRC32	LRP5	FZD4	CTNNB1	BEST1	ZNF408	NDP	TSPAN12	CAPN5
HP_ANTENATAL_ONSET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTENATAL_ONSET	ZIC2	EIF5A	NPAP1	SOX9	SOX10	SNAP25	WDR4	FKBP14	NUP155	CPSF3	RPL10	NSD2	CDC42BPB	SNORD115-1	STT3B	KIAA0753	COL2A1	MYH11	LBR	NAA20	MKRN3	RIPK4	PWRN1	MEGF10	MAP3K7	B4GAT1	PLCH1	ERCC8	SNORD116-1	TNFRSF11A	WDR45B	PWAR1	GNPTAB	PLG	PDX1	KDM6A	VRK1	MRPS22	KMT2D	CLPB	IFIH1	WNT3	CCDC134	TOGARAM1	FARSB	TMEM38B	SYNE1	MYRF	NDUFB7	SKIC2	TMEM216	LMOD1	P3H1	TNNT2	MINPP1	CPT2	PRIM1	ERCC5	COX16	TCTN3	CREB3L1	CENPE	PI4KA	ATP1A2	RAD21	EXOC7	PRKAG2	KMT2B	PIGG	SDHD	DCC	GFRA1	LGI4	TWIST2	PKHD1	PAICS	CALM2	TRAIP	SOX18	GLUL	SLC35A3	NDUFC2	MKS1	DYNC2LI1	LMNB1	DDRGK1	CYP26B1	BICC1	CHRNG	TXNDC15	FANCB	OBSL1	TOP3A	B9D2	KIF7	NSD1	PSMD12	WDR19	RMRP	RSPO2	MAGEL2	TAF2	KIDINS220	ALG8	ALPK3	KDELR2	NEK8	XYLT1	PYCR1	KIF14	ALX4	PIGA	ALG1	PLOD3	SCUBE3	TPM1	DEF6	TBX18	MCM10	SLC12A1	SYT2	GINS1	KIF5C	RAC1	MESP2	CC2D2A	ZIC3	KLF1	SLC35D1	DLL3	DPH5	CHUK	RNF2	EZH2	ZNF526	KIF20A	GUSB	SOS1	SCN5A	CHD7	FARSA	SIN3A	MDFIC	BMPER	TMEM218	TRIP11	NEK9	LMNA	RNU4ATAC	PRRX1	SLC30A9	MNS1	RYR1	ZMPSTE24	HERC2	CILK1	ALDH1A2	SHQ1	POMK	ACTG2	USP18	ZBTB42	SDHA	GBA1	IL6ST	BUB1B	WT1	PLEC	EXOSC9	PPP1CB	FTO
HP_ABNORMAL_MORPHOLOGY_OF_MYOCARDIAL_TRABECULAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_MYOCARDIAL_TRABECULAE	CALM2	SCN5A	COA6	PRDM16	SDHA	LDB3	DTNA	MYH7	NONO	ACTN2	MIB1	HCN4	ACTC1	MIPEP	TNNT2	MYBPC3	JUP	SDHD	VARS2	NPPA
HP_BRAIN_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRAIN_NEOPLASM	POLE	ZFTA	POLD1	RELA	NF1	APC	FLI1	RB1	AAGAB	COL14A1
HP_VEIN_OF_GALEN_ANEURYSMAL_MALFORMATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VEIN_OF_GALEN_ANEURYSMAL_MALFORMATION	GNAI3	EDN1	RASA1	EPHB4	PLCB4
HP_CENTRAL_NERVOUS_SYSTEM_CYST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_NERVOUS_SYSTEM_CYST	PIGN	TSEN2	FKRP	SEMA3E	ODC1	POMT1	PDHA1	AFF3	RPGRIP1	VRK1	TXNDC15	MYOD1	HYLS1	FKTN	B9D2	ZIC1	B3GALNT2	TCTN2	IDH1	SMARCB1	CSF1R	DYNC2I1	WASHC5	B4GAT1	PLCH1	SMARCE1	TMEM107	CRPPA	PLG	OCRL	CTBP1	FAR1	WDR35	FLVCR2	DPYSL5	SMG9	DPH1	ASXL1	ATP6V1A	VPS51	PDHX	RNF113A	ARID1B	PDHB	FGFRL1	SLC25A46	SMARCA4	DYNC2H1	GJB2	CPT2	BUB1B	ADAR	TMEM231	GRM1	POMK	LIPT2	AHDC1	EBP	IFT80	NUP62	DAG1	PEX1	GDF6	TMEM138	PMM2	SNX14	GRIA3	TCTN1	LARS2	MUSK	NPHP3	EXOSC8	TUBA1A	KRAS	CDC42	GLUL	EXOSC9	TRIP13	CEP290	GTPBP2	PSMD12	NUP88	DHCR7	POMT2	ATP6V0A2	TSEN54	CTNNB1	MKS1	BRAF	GMPPB	C2CD3	TMEM237	KIF7	KIAA0586	TMEM216	GFM1	SNORD118	TUBGCP2	LARGE1	POMGNT1	CSPP1	ARID1A	FGFR2	IGF2	POLR3A	OPHN1	WDR73	ALG3	BLTP1	TMTC3	FARSA	ARMC9	COL4A1	DYNC2I2	B9D1	DOCK6	ATP6V1B2	WDR81	POMGNT2	SMARCC2	EVC2	PHGDH	FGFR1	TUBB	CEP120	KCNQ1	EVC	SMARCD1	TXN2	MID1	GLI3	RXYLT1	PPP1CB	FTO	NRAS	EXOSC3	TBC1D24	LETM1	CPLX1	BUB3	CEP57	B4GALT1	ATP6V1E1	AGTPBP1	DENND5A	CHD7	GALNT2	TCTN3	SLC35A2	OFD1	CDKN1C	TSEN15	NSD2	SOX4	EXOC2	TMEM67	AP1S2	GPC3	PNPLA2	LAMA1	ERCC5	TSEN34	CCDC22	ZSWIM6	BPTF	MTM1	GJB6	LONP1	ARID2	ABAT	DOK7	GPC4	KANSL1	BCOR	WDR26	USP9X	HRAS	DPF2	SLC18A3	SOX11	COL3A1	MT-ATP6	WLS	ESCO2	GFAP	MAB21L1	PUF60	PIEZO2	RAPSN	CC2D2A	KCNQ1OT1	VSX1	NONO	D2HGDH	BUB1	SEPSECS	RPGRIP1L
HP_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARCINOMA	NLRP1	RSPO1	DKC1	POLD1	APC	PTEN	CDKN1B	POLE
HP_SACROCOCCYGEAL_TERATOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SACROCOCCYGEAL_TERATOMA	SETBP1	MNX1	NSD1	SETD2	APC2
HP_INTRAVENTRICULAR_HEMORRHAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRAVENTRICULAR_HEMORRHAGE	PET100	KANSL1	SPARC	NFIA	RNF168	F8	LMBRD1
HP_TOOTH_ABSCESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TOOTH_ABSCESS	NTRK1	ELANE	DLX3	FGF23	ENPP1	PHEX	DMP1
HP_RENAL_FIBROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_FIBROSIS	ARL3	NPHP3	ANTXR1	NPHP4	MUC1	NDUFAF6	NPHP1	PTPRO	SLC37A4	SLC7A7	ACP5	BSND	REN	CLCN5	PKHD1	GBE1
HP_EAR_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EAR_PAIN	PIK3CA	BAP1	KRT6B	TERT	KRT17	SMARCB1	NF2	SMARCE1	KRT16	AKT1	KRT6A	PDGFB	SMO	TRAF7	SUFU
HP_ABNORMALITY_OF_THE_PROTEIN_C_ANTICOAGULANT_PATHWAY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PROTEIN_C_ANTICOAGULANT_PATHWAY	MPI	F5	GGCX	PROS1	PROC	ALG8	ALG6	DPM1	B4GALT1	NGLY1	DPAGT1	ALG12
HP_ABNORMAL_CIRCULATING_INTERLEUKIN_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_INTERLEUKIN_CONCENTRATION	UNC13D	PTPN2	CD247	MEFV	HMOX1	RASGRP1	IL12RB1	POLA1	IL2RB	ABCB4	ATP8B1	PRKCD	FAS	IL2RA	PSMB8	PRF1	SASH3	ELF4	CASP10	STXBP2	NR1H4	STX11	SP110	STAT4	FADD	CARD10	FASLG	PTPN22	ANKRD55	IL6R	ABCB11
HP_INCREASED_CIRCULATING_INTERLEUKIN_6_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_INTERLEUKIN_6_CONCENTRATION	UNC13D	ELF4	STXBP2	STX11	MEFV	HMOX1	PSMB8	PRF1	SASH3	IL6R
HP_ANOMIC_APHASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANOMIC_APHASIA	C9orf72	MAPT	PLP1	PSEN1	TMEM106B	CHMP2B	TREM2	GRN
HP_PHOTOPSIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHOTOPSIA	BAP1	CYSLTR2	PRRT2	GNAQ	GNA11	CACNA1A	ARHGEF18	SCN1A	SF3B1	ATP1A2
HP_ABNORMAL_JAW_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_JAW_MORPHOLOGY	GABRA3	ODC1	VPS37D	LRP4	APC2	HS6ST2	IL11RA	SPATA5	HS2ST1	RARB	IFT43	FOXE3	CPLANE1	ARHGAP29	RPGRIP1	LBR	OTX2	ZNF699	KCNJ6	RNU4ATAC	NDUFB11	PTPN11	PRKAR1A	AP3D1	FZD2	CDT1	BRCC3	MEGF8	PEX14	RNF113A	SETD2	FBXW11	SEC24D	GP1BB	MAT2A	ADA2	TPM2	TAPT1	MECP2	TGFBR2	COL6A1	PQBP1	STAMBP	HNRNPR	NFIX	UBA1	SLC3A1	HNF1B	RPS29	NRCAM	POLR3A	CDC6	LZTR1	TOPORS	SP7	SATB2	BRCA2	H3-3B	ERCC5	DHODH	DVL1	HSD17B4	RPL35A	TRPS1	CHN1	PIGN	PSMD12	RUSC2	KIDINS220	MAFB	APC	MYL2	BPNT2	PTH1R	C12orf57	FKBP6	FLII	VPS33B	UBE3A	NCAPG2	ATAD3A	TUBGCP2	CHRNE	HSPG2	KDM5C	IGBP1	PEX3	COG1	CHD7	SOX5	RAI1	ATP6V1A	NEK9	CDC73	IRF6	RECQL4	ARX	IL2RA	TPRKB	PIK3R1	ASNS	AEBP1	EBP	ZNF335	CAVIN1	TRRAP	SCYL2	P4HB	FBN1	ZBTB11	PCGF2	FLNB	MYCN	CAMTA1	ERMARD	EZH2	COL2A1	PTDSS1	LAS1L	SHOX	SLC25A24	KCTD1	RPL26	NBN	IGF1R	TCTN3	GSC	TCOF1	ALG11	KMT2D	FOXG1	UBE3B	SOST	EFTUD2	ACTB	SLC9A6	SLC25A1	WNT5A	RSPO2	ALX3	TGDS	GPC3	XRCC4	KIF15	CCDC32	PAH	SPEG	SRCAP	TNPO2	SELENON	TBX1	EMG1	CTU2	PLXND1	POLR1B	ASXL1	CCDC22	DVL3	DOK7	FGFR2	NDST1	NOTCH2	EP300	MOGS	MAN2B1	EIF4H	STAG2	IGF1	MCTP2	SOX6	ADAMTSL4	NXN	ITGA7	PIGO	HYMAI	IGF2	KCNH1	MAGEL2	PITX2	PEPD	B3GALT6	FDFT1	TRIO	NRAS	PHIP	CNOT3	P4HTM	VPS35L	GRIP1	NEK1	HBA1	KAT5	NF1	SNRPN	HMGA2	MYMK	ZMPSTE24	MEG3	GPKOW	CTBP1	AMMECR1	RRAS2	METTL27	CNTNAP1	FGF3	LRP5	TONSL	SMOC1	COL1A2	ALG14	WDR62	H4C3	EDA	MYOD1	BUB1B	NARS1	CPLX1	PEX1	FOXC2	SLC5A7	CLCN4	PMM2	LEMD2	GRIA3	FGFR3	OTUD6B	BICD2	TBC1D20	PAX3	FAT4	FLNA	SLC6A17	SOX18	STEEP1	SMAD3	TRAIP	NCF1	MYH3	SUZ12	NUP88	FBXO31	PTCH2	RAB3GAP2	PPP1R15B	SLC6A9	COL11A1	RERE	PIGV	TMEM216	SMAD4	ARCN1	KAT6B	TMCO1	PEX13	KRAS	NECTIN1	MUSK	HDAC8	KIF7	IFIH1	GPC6	FANCI	BRAT1	SUFU	SMG8	ERCC6	B9D1	TOE1	BPTF	PHGDH	THOC6	CEP55	CENPE	SKI	ROR2	SLC26A2	PIK3CA	ERCC3	SH2B1	GATA4	ATRX	NUP133	NEB	PLAGL1	VPS53	FAM20C	PEX11B	COLQ	SLC18A3	PRMT7	KPTN	HIRA	RPS19	EIF4A3	CACNA1C	SETD5	NUP85	TWIST1	CEP152	ARVCF	NSMCE2	ALX1	AP1S2	FANCF	TAFAZZIN	CARS1	TRMT1	NUP107	CRLF1	SMO	KLHL41	ITGA8	NEXMIF	PEX2	KMT2B	TYMS	SIX3	TNNI2	DPM1	BANF1	MAP2K1	CDKN1C	SH3PXD2B	SEMA5A	RAB3GAP1	PPP1R12A	KATNB1	LAMB2	LIFR	TPM3	FANCM	NSD1	PTEN	ZBTB18	MESD	PIGW	PIGA	HPDL	RPS17	CASK	SH3BP2	ANK1	NAA10	DPAGT1	COL3A1	MAMLD1	EMC1	GALNS	B3GAT3	FANCE	GAD1	FAM149B1	CHST14	DLX4	SLC25A19	COL5A1	SC5D	CTSK	FANCB	NSD2	ARSL	DEAF1	IDS	AIP	KIAA0753	ADGRG6	IPO8	IDH1	ORC1	DYNC2I1	WASHC5	CANT1	EXTL3	RPS24	IFT140	SPECC1L	TBC1D2B	RPS27	ATP6V0A2	TBC1D7	MMP2	EXT1	RREB1	PARN	PLK4	HMX1	TAF1	RIT1	EXOC7	DYM	DIS3L2	ADAMTS10	KBTBD13	GFPT1	GJA1	DYNC2H1	ASXL2	MTX2	MYH7	TP63	CHRNG	SLC6A8	LOXL3	CEP290	YY1	NALCN	TGFB2	C2CD3	CDH1	RAD51C	TBCE	PCNT	KAT6A	PTCH1	RTL1	FOXP1	NPM1	PRKG2	FANCA	ATR	MYPN	FRMPD4	PDE4D	DNA2	SLC37A4	ZC4H2	CEP120	MID1	LMNA	NSDHL	SOX9	KDM4B	UBB	EXT2	COL13A1	NUDT2	ERF	COL11A2	PRUNE1	RTTN	WRAP53	HERC2	ERCC8	GMNN	CLPB	OSGEP	UPF3B	OFD1	CDCA7	CNOT2	ATP6V0A1	SCN9A	DGCR8	DNMT3A	CHAT	MPLKIP	PEX5	EDN1	POLR1A	BLM	COL9A2	PAX1	AFF4	ELN	ERCC1	ANKRD11	SF3B4	SVIL	HBB	CLCF1	POLA1	PSAT1	KDM6A	PIGT	ERCC4	MAP3K7	BSCL2	NFASC	MFAP5	HBA2	RNF125	EXOSC1	RBBP8	OCRL	CLCN7	AUTS2	PUF60	KCNN3	LARGE1	GPR101	CILK1	RPS7	ANTXR1	ANKLE2	ERCC2	DLG1	EIF5A	ADAT3	CLCN3	AFF3	MYMX	COG5	FOS	CCBE1	TTN	CBL	TNRC6B	TMEM107	TRIP4	RAB18	WNT3	COX7B	THUMPD1	NHP2	OCLN	H4C9	NOP10	CEP57	TINF2	RPL15	FGFR1	RPL11	FBN2	RTEL1	ECEL1	VPS13A	CTDP1	TMEM70	SEC31A	BCL11A	NOTCH3	VPS13B	BGN	EYA1	LETM1	DHCR7	TBCD	DLK1	PNKD	ATG7	TXNL4A	EED	ABL1	COG8	RPS10	EFEMP2	NHS	POMT1	TUBB3	GTF2I	TAB2	PLA2G6	GHR	PLAA	PIK3C2A	PI4KA	MYO9A	CENPJ	CSNK2A1	ZNF292	ADGRG1	CDC42BPB	PLCB4	COL12A1	COL5A2	GNPAT	POLE	SNIP1	MYLK	LIG4	RAB23	TELO2	PLAG1	ANAPC7	PTPN22	CACNA1G	RAC3	MADD	TARS1	MAN2C1	CHST3	SPRED2	RFT1	PDGFRB	PIEZO2	HNRNPH2	IRX5	ARL6IP6	PKDCC	TGFB3	PYCR2	ABAT	STT3A	MCM5	SON	RYR1	B3GLCT	COG7	GTF2IRD2	LIMK1	MSL3	LMOD3	MED13L	CRIPT	SIM1	SCNM1	AP4M1	TMEM270	KCNK9	WLS	CHRNA1	CLIC2	AIMP2	SIN3A	TSEN54	TGFB1	TNFSF11	GORAB	AGPAT2	GBA1	RBM8A	WT1	PIGL	YARS1	CUL4B	ZBTB20	GPC4	MYH8	LTBP4	HYLS1	B9D2	PURA	PIGY	BMP4	TERT	ADAMTS3	SALL4	EHMT1	GNPTAB	SPATA5L1	EDEM3	TSR2	SFRP4	WDR26	RPS28	ZEB2	B4GALT7	PDGFRA	DYRK1A	SPOP	CFL2	RBM10	UNC80	HOXB1	KCNJ2	PALB2	DSE	TUBA1A	CREBBP	RPS6KA3	COL6A2	TRIP13	PIEZO1	GLE1	DPH1	MEN1	TGFBR1	ERGIC1	PTPN2	COL1A1	FGF10	RIN2	KIF11	MKS1	RUNX2	DPH5	HEY2	CSPP1	GLI2	MAD2L2	PRDM13	MINPP1	FMR1	BRIP1	ANO5	COLEC11	USB1	DHCR24	SPEN	ERBB3	CRPPA	FTO	IL1RAPL1	SRY	STAC3	DPM2	RAD21	GNA11	PIGB	MAF	FOXF1	SRPX2	DHX30	LAGE3	SPRTN	ZBTB24	POLR1C	RIPK4	POLR1D	INTU	ATP6V1B2	IBA57	GRB10	CDH11	RB1	PYCR1	ADAMTSL1	MAPK8IP3	TRMT10A	VAC14	DSTYK	BAZ1B	RPS15A	PRKACA	ZNF341	ACAN	SLC35A2	ZMIZ1	SEC24C	WDR73	KNL1	PRRT2	PEX16	PREPL	NDE1	FKTN	SMC1A	MAPRE2	PAK2	PUS1	GJA8	PSPH	LRRC32	PRR12	HRAS	HNRNPH1	SYT2	FLCN	PKHD1	CAV1	RAF1	BUB1	AMER1	FANCC	ARNT2	RPGRIP1L	BRD4	MGAT2	KCNK4	GRHL3	EDNRA	KCNJ5	TCTN2	SSR4	GATA1	HYOU1	ATPAF2	MBD5	STAG1	ACTA2	ORC6	PHF21A	CDK5	POLD1	FGFRL1	AP2M1	HCCS	SPRED1	COL9A1	OSTM1	AHDC1	MRAS	BCL11B	IFT80	SMPD4	DGCR6	FANCL	GTF2H5	EXOSC5	CEP135	PEX6	BCL7B	SEC23A	MAPKAPK5	PEX19	DOCK3	PEX7	RPL10	MYBPC1	PRRX1	OPHN1	SMAD2	PAX7	TUBB	BMPER	PIGG	ALG13	CCDC88A	ATP7A	DOCK6	MSX1	MSTO1	BICRA	CHD5	RPL18	STRA6	XRCC2	RPL31	HEATR3	C1S	SLC10A7	NSUN2	LTBP3	DGCR2	AARS1	SIX5	POMGNT1	GNAI3	GLB1	SETBP1	PEX12	MRPS22	POMT2	MYO18B	NSRP1	FOXC1	H3-3A	CHSY1	INSR	FOCAD	RDH11	FGD1	SLC35C1	KIF14	DCHS1	BUD23	SNAP25	PGAP2	PYROXD1	NUP188	RELN	RPS20	MIA3	CWC27	GJA5	LMBRD2	LEMD3	ACTG2	SERPINH1	ALG9	WDR35	DDR2	ORC4	JMJD1C	GLDN	FANCG	RAPSN	ALX4	PEX26	CC2D2A	SMS	SNRPB	D2HGDH	CSNK2B	TBCK	WBP11	AKT1	UBA2	IARS2	ABCD4	CUL7	UBE2T	HNRNPU	SIX1	ACTA1	PPP3CA	FBXO28	DPYD	FBXL3	FLVCR2	DZIP1L	GLI3	TWIST2	IDUA	MED12	CREB3L1	RRAS	DNMT3B	CD96	TCTN1	YARS2	CHUK	BIN1	SLC35A3	ZDHHC9	MLXIPL	LOX	TXNDC15	FARS2	PIGF	AGA	KIAA0586	ASXL3	TBX4	CTC1	IGFALS	GTF2E2	RPL5	ANKH	ADAMTS2	COL6A3	MTM1	GATAD2B	CLIP2	HACD1	COASY	FIG4	RFWD3	ACTG1	PDE6D	CCNK	BUB3	CSGALNACT1	GNB2	BDNF	FOXE1	ALG12	BRCA1	TASP1	TMEM67	TNNT3	DONSON	SCARF2	CENPF	REV3L	DDB1	TBX15	HELLS	PRKACB	COMT	RSRC1	KIFBP	FUT8	ATRIP	KCNC2	OCA2	IQSEC2	HUWE1	COL25A1	SLC29A3	RLIM	PRKG1	BRAF	ZNHIT3	POGZ	SOS1	BNC2	VARS1	SHANK3	CD247	TERC	MAP3K20	WNT7A	HDAC6	CTNND2	EXOC6B	RPS26	RHOBTB2	ATP6AP2	SLC12A2	ARID1B	PSMC1	TRIP11	GTF2IRD1	TENT5A	POC1A	MYL11	MAPK1	PIGQ	CHRND	CPE	SLC2A10	RPL27	VAMP1	ANKRD55	LAMA2	BRF1	SLX4	PPARG	TMEM237	RFC2	FANCD2	WDR4	TBL2	GEMIN4	COL9A3	PUS7	IL2RB	NEPRO	BLTP1	ATP10A	FHL1	DYNC2I2	STAT4	ALDH1A2	TFAP2A	NELFA	KDM6B	EPG5	PRORP	STX1A	DNAJC30	ESCO2	ESS2	SLC12A6	ASPH	NIPBL	FKRP	NR2F1	MITF	PCDHGC4	H4C5	COG4	C1R	SOS2	DKC1	ADAMTSL2	TOR1A	GDF11	SMC3	PEX10	PRIM1	SF3B2	COG6	HERC1	IL6ST	DNAJC21	INTS1	RASA2	TMEM231	LGI4	TP53RK	RMRP	AGRN	BMP2	ALG1	CDC45	PGAP3	NEDD4L	MYH11	RPL35	PGM1	OTUD5	PAX6	MED25	CLTCL1	SOBP	RAD51	CA2	UFD1	ARID2
HP_ABNORMAL_CIRCULATING_C_PEPTIDE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_C_PEPTIDE_CONCENTRATION	HNF4A	CIDEC	KCNJ11	KLF11	BLK	HNF1A	GCK	INSR	ABCC8	INS	FOS	NAB2	CEL	UCP2	STAT6	PPARG	HADH	CNOT1	PAX4	CAVIN1	BSCL2	CAV1	PDX1	AGPAT2	APPL1	NEUROD1
HP_REDUCED_C_PEPTIDE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_C_PEPTIDE_LEVEL	STAT6	PDX1	INS	CNOT1	NAB2	GCK	KCNJ11
HP_INCREASED_C_PEPTIDE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_C_PEPTIDE_LEVEL	UCP2	KCNJ11	CIDEC	PPARG	HADH	INSR	CAVIN1	BSCL2	HNF1A	CAV1	ABCC8	AGPAT2	FOS
HP_SCAPHOCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCAPHOCEPHALY	TRAIP	KPTN	TWIST1	IFT122	HSD17B4	GLI3	ATP6V0A2	IL11RA	TBC1D7	THUMPD1	IDS	CNTN1	KCNJ2	SCARF2	ALG14	DPH1	PRIM1	AGO2	SCYL2	KCNJ5	RYR1	PEX19	OFD1	ERGIC1	KIF15	IL6ST	SOX6	KRAS	COL25A1	NFIX	FBN2	ARCN1	ASXL3	IFT140	IFT43	OGDHL	FBN1
HP_ABNORMAL_TONGUE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TONGUE_MORPHOLOGY	AMPD2	FKRP	ARSB	VPS37D	POU1F1	NKX2-1	CUL4B	GJB2	HS2ST1	SDHD	CPLANE1	RPGRIP1	GPC4	ZFP57	OTX2	IDS	TSHR	GNE	ZNF699	B9D2	KIAA0753	IPO8	BMP4	NEFL	DYNC2I1	FBXO28	FRAS1	LMNB2	EHMT1	GNPTAB	SGCG	IFT140	FZD2	WDR35	SEC23B	DHCR7	GLB1	TRAF3IP2	GLI3	SH3TC2	DYNC2H1	TGDS	LIMS2	PEX16	RBM10	DNMT3B	HYMAI	POMT2	NFIX	TCTN1	VPS33A	FREM2	TPO	TOPORS	MLXIPL	POMT1	LMNB1	DVL1	LARGE1	IYD	CEP290	FDX2	FRG1	MKS1	IL6ST	GMPPB	PTH1R	C2CD3	FKBP6	AGA	SLC26A4	HRAS	PQBP1	DUOXA2	POU4F1	HNRNPK	POMGNT1	KDM5C	RTL1	KIF7	LHX3	ARID1A	DOK7	PIK3CA	SOX5	RUNX2	MED13L	NEK9	PRRX1	GNAI3	CLIP2	SLC37A4	NOP56	CAVIN1	NEU1	CEP120	MID1	MT-TE	ROR2	LMNA	PTEN	MAN2B1	CRPPA	FTO	SLC6A19	PDE6D	IDUA	EXOSC3	SREBF1	PAX8	SPTBN1	PIGB	SLC52A3	SRPX2	SDHB	DHX30	COL11A2	PTDSS1	MORC2	POLR1D	TG	TCTN3	TCOF1	FUCA1	PANK2	CDKN1C	ATP6V1B2	FOXG1	KRT5	OFD1	CDCA7	TMEM67	INPP5E	WNT5A	RSPO2	ZBTB24	ALX3	REV3L	OPTN	GPC3	COL2A1	TBX15	PTPN22	EDN1	HELLS	ATRX	CCDC22	PLXND1	HEXB	COG7	VAC14	BAZ1B	AFF4	ELN	DVL3	RIPK4	ERLIN2	EIF4H	PKP1	OCA2	MCTP2	BSCL2	NFASC	SET	NXN	RNF125	PRR12	GUSB	THRA	TRIP11	KCNN3	DUOX2	HLA-B	PRKAR1A	SMARCB1	SNRPB	GPR101	P4HA2	FOXE1	ALG8	SNRPN	KCNQ1OT1	CAV1	KRT14	SDHC	TRMU	RPGRIP1L	UBE3A	NEK1	MGAT2	CPSF3	NKX2-5	SLC39A4	ABCC8	TSHB	AFF3	MYMX	EDNRA	FOS	TXNDC15	DDX59	POLR1C	MYMK	POP1	TCTN2	MEG3	TMEM107	METTL27	ECM1	MBD5	PLAGL1	COL7A1	AIP	CCDC47	HLA-DRB1	GTF2IRD1	GNS	SMARCA4	TMEM231	IL36RN	PI4KA	IFT80	PEX1	SNX14	PRKAG2	CLTRN	ECEL1	VPS13A	KY	SLC5A5	SBF2	MMACHC	BCL7B	LMBRD1	SLC46A1	VPS13B	NCF1	FAM20C	LAMA2	CRKL	PSMB8	PPARG	RERE	FAM111A	TMEM237	TMEM216	ACTB	DLK1	RFC2	TBL2	GATA1	PIGW	TRIM37	IGF2	ALG3	GTF2I	DYNC2I2	PROP1	B9D1	SOX9	RALGAPA1	RAB3GAP2	GAA	MAPK1	GSN	ALG6	KCNQ1	ENG	STX1A	LIFR	CSPP1	DNAJC30	FIBP	ADGRG1	SETBP1	CDC42BPB	PLCB4	BCR	LHX4	FIG4	SNIP1	USF3	BTK	TELO2	H4C5	KCNH1	ACVRL1	COL11A1	INSR	MAN2C1	SLC35C1	ZMPSTE24	POLR1B	BUD23	SMO	SLC25A24	CUBN	MEF2C	RAB3GAP1	FLNA	KRT6A	GRIK2	POMK	GRIP1	HESX1	MMP1	RMRP	KCNJ11	GTF2IRD2	KCNMA1	NRXN1	LIMK1	RBBP8	TBCK	AMN	SCNM1	TBX22	AKT1	WNT10A	TMEM270	CLIC2	TAF1	PDE11A	MED25	PIK3C2A	PIGS	FAM149B1	KLLN	CC2D2A	CSNK2B	AGPAT2
HP_ABNORMAL_TONGUE_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TONGUE_PHYSIOLOGY	CHCHD10	SBF2	EXOSC3	SMN1	SYNGAP1	FRAS1	WNK1	EXOSC9	SLC52A2	SLC52A3	NOTCH2NLC	AGTPBP1	VRK1	PRUNE1	MEGF10	ATP1A2	NTRK1	GNAI3	EDN1	NOP56	SH3TC2	TBCD	VCP	RMND1	ATP13A2	EGR2	MPZ	ATP11A	TUBB4A	SYT2	PLCB4	UBA1	RETREG1	AIFM1	EXOSC8	PRRT2	PRX	KCNK9	SPTLC1	ALS2	NDUFS4	SLC25A46	LGI3	SCN9A	GIPC1	TSPYL1	OPTN	SMN2	PMP22	SLC39A4	MTPAP	ADPRS	TOE1	ELP1	ASAH1	CACNA1A	KIF1A	GAA	SLC25A21	VWA1	FXR1	SCN1A
HP_ENLARGED_TONSILS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_TONSILS	IDUA	PIK3R1	IDS	AKT2	CD40LG	CA2	IL2RA
HP_GINGIVAL_RECESSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GINGIVAL_RECESSION	CTSC	VAC14	C1R	FIG4	DSP	COL3A1
HP_HOODED_EYELID	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HOODED_EYELID	MYMX	PRR12	SMC3	PIGQ	AP1G1	SOX6	CDC42BPB
HP_ABSENT_FOVEAL_REFLEX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_FOVEAL_REFLEX	PDE6C	PDE6G	HPS6	GNAT2	CACNA1F	ATF6	RPGR	TLCD3B	PRPH2	OFD1	CNGA3	RHO	RBP4	CNGB3	RPE65	RLBP1	RDH5	PDE6H
HP_WHEEZING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WHEEZING	DNAH9	ZMYND10	HLA-DQA1	BTK	SPAG1	DNAJB13	TTC12	DNAH1	DNAAF11	LRRC56	SCNN1G	RPGR	SCNN1A	DNAI1	GAS8	HLA-DQB1	DNAH11	CRLF1	CFAP221	DNAAF4	OFD1	RSPH4A	RSPH3	NEK10	ATP8B1	DNAL1	HYDIN	CCDC40	STK36	SPEF2	CFAP298	SCNN1B	ODAD4	RSPH1	CFAP300	SERPINA1	CCDC103	CFTR	MCIDAS	CCNO	RSPH9	GAS2L2	DNAAF2	CCDC65	DNAAF3	DNAAF6	CCDC39	PRIM1	DNAAF5	DNAAF1	ODAD3	FOXJ1	FCGR3A	NME8	NKX2-1	DRC1	ODAD1	ODAD2	DNAI2	DNAH5	NOS1
HP_ABNORMAL_BREATH_SOUND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BREATH_SOUND	SCN4A	ZMYND10	HLA-DQA1	IGHMBP2	SOX9	DNAJB13	CTSK	DNAH1	TERC	SLC52A3	LRRC56	SCNN1G	RTEL1	AGTPBP1	CSF2RA	VRK1	LAMB3	GAS8	HLA-DQB1	SLC18A3	DNAAF4	OFD1	MIR140	RSPH3	VPS33A	DNAL1	CCDC40	STK36	COL13A1	CACNA1C	ODAD4	CFAP300	EXOSC3	SERPINA1	MUC5B	STN1	FAM13A	HLA-DRB1	SLC25A1	SFTPA2	SLC25A46	ATP11A	CHAT	CCDC65	DNAAF3	SCARF2	PAX8	TSPYL1	CCDC39	SLC18A2	PRIM1	DNAAF1	ODAD3	SCNN1B	NFIX	KIF22	FOXJ1	SLC5A7	NME8	SNAP25	COQ2	TERT	FLNA	ODAD2	EXOSC8	DNAI2	DNAH5	NOS1	SFTPA1	DNAH9	GNPTAB	BTK	SPAG1	SFTPC	EXOSC9	TTC12	CSF2RB	DNAAF11	DST	VAMP1	LAMC2	RPGR	SCNN1A	AGRN	DNAI1	DNAH11	CRLF1	CFAP221	RSPH4A	NEK10	SERPING1	ATP8B1	SCO2	HYDIN	SPEF2	CFAP298	NFASC	RSPH1	TRPV4	DSP	DPP9	CCDC103	CFTR	MCIDAS	CCNO	RSPH9	FUZ	GAS2L2	DNAAF2	LAMA3	DNAAF6	LYRM4	GNB1	DNAAF5	SYT2	JAG1	FCGR3A	NKX2-1	PARN	DRC1	RYR1	PLP1	MYO9A	D2HGDH	MID1	ODAD1	GTPBP3	ABCA3	GBA1	MAP3K7
HP_CRACKLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRACKLES	CFTR	STN1	SFTPC	FAM13A	HLA-DRB1	CSF2RB	SFTPA2	TERC	ATP11A	TERT	SCNN1G	RTEL1	CSF2RA	NKX2-1	SCNN1A	PARN	SCNN1B	RYR1	SFTPA1	DSP	DPP9	ABCA3	MUC5B
HP_NECK_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NECK_PAIN	DKK1	RASA1	HMBS	TONSL	HTRA1
HP_SHOULDER_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHOULDER_PAIN	CFH	HELLPAR	CD46	CFI	B2M	PMP22	TONSL
HP_HIP_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIP_PAIN	ZMPSTE24	MATN3	COL2A1	HYAL1	HNRNPA1	LEMD3	VCP	HNRNPA2B1	LMNA	TRPV4	BSCL2
HP_KNEE_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KNEE_PAIN	COL9A3	HYAL1	COL9A1	COL2A1	COMP	LMX1B	COL9A2	B2M	MATN3	TONSL	GJB2	TRAPPC2	SLCO2A1	BSCL2	GJB6
HP_ANKLE_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANKLE_PAIN	COMP	MAFB	HYAL1	LEMD3	MATN3
HP_CHOKING_EPISODES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOKING_EPISODES	SYT2	SCN4A	CACNA1A	SLC5A7	SNAP25	SLC25A1	SLC2A3	CHAT	COL13A1	VAMP1	MYO9A	HTT	PLA2G6	AGRN	ZNF699	SLC18A3
HP_ABNORMALITY_OF_VENOUS_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_VENOUS_PHYSIOLOGY	BMPR2	TERT	MYH7	BMP6	HFE	PIGA	TERC	CD55	JAK2	F5	MPL	TET2	TINF2
HP_HETEROTAXY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HETEROTAXY	SMAD2	MMP21	CFC1	CFAP52	GDF1	CPLX1	FOXJ1	KDM3B	PKD1L1	ACTG2	FANCB	NELFA	CFAP53	CTBP1	ZIC3	PIGG	DNAH9	LETM1	CCDC39	NODAL	CIROP	NSD2	CCDC32
HP_SCLERAL_STAPHYLOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCLERAL_STAPHYLOMA	PIGT	HADHA	MC1R	VPS4A	BEST1	OCA2	ARL2	IMPG2	PAX2
HP_POSTERIOR_STAPHYLOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_STAPHYLOMA	PIGT	HADHA	MC1R	BEST1	OCA2	ARL2	IMPG2
HP_EYE_MOVEMENT_INDUCED_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EYE_MOVEMENT_INDUCED_PAIN	COL8A2	SLC4A11	TCF4	AGBL1	ZEB1
HP_ADDICTIVE_BEHAVIOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADDICTIVE_BEHAVIOR	PML	TICAM1	STAT5B	IRF2BP2	TBK1	GABRA2	ADH1B	TAS2R16	FIP1L1	NPM1	HTT	STAT3	RARA	NABP1	ZBTB16	NUMA1	HTR2A	TRAF3	TLR3	LEMD3	BCOR	SLC2A3	UNC93B1	TBL1XR1	ADH1C	PRKAR1A
HP_ABNORMALITY_OF_SPINAL_FACET_JOINT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SPINAL_FACET_JOINT	FUZ	VANGL1	TBXT	AEBP1	VANGL2	CCL2
HP_ABNORMAL_CARDIAC_VENTRICULAR_FUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CARDIAC_VENTRICULAR_FUNCTION	TBX20	ABCC6	GATA6	SLC25A4	MYPN	CSRP3	MYH7	FOXE3	ABCC9	MT-CYB	MT-ND6	LDLRAP1	BAG3	LMNA	CITED2	FKTN	MYLK	GDF1	COA6	DES	TET2	LDB3	DYSF	LTBP1	MYH11	RPL3L	TGFB2	FBLN5	MT-TC	SDHB	PSEN1	SGCG	LDLR	MYBPC3	RAF1	SGCD	MT-TL1	ACTA2	TTN	FKRP	SELENON	RRM2B	MT-CO3	TNNT2	MAT2A	FOCAD	WNT5A	PSEN2	MT-TF	FLNC	ATP13A3	FBN1	HLA-DRB1	APOB	TNNI3	TAFAZZIN	NPPA	ZMPSTE24	AARS2	POMT1	TWNK	MYH6	CRYAB	POMT2	POLG	SMAD4	PPCS	SLC34A2	VCL	SDHD	EYA4	MT-CO1	VHL	SCN5A	TOP3A	PRDM16	MT-TQ	TGFB3	ADAMTS19	TLL1	DVL1	LAMA4	LOX	BMPR2	ABCG5	KIF20A	ACTC1	SDHAF1	RBM20	LAMA2	MT-TV	MT-CO2	EFEMP2	DAXX	ABCG8	ALPK3	TGFBR1	NEXN	SDHA	MT-ND5	TPM1	TTR	B2M	NKX2-5	MFAP5	MT-ND1	ACADVL	DMD	MT-TK	CCND1	HEY2	TAB2	DLD	LMOD2	PRKG1	SMAD2	DSG2	BAG5	MT-TS2	POLG2	NONO	MT-TW	OTUD5	GAA	BTNL2	PCSK9	ELN	ATRX	EIF2AK4	SLC6A6	GATA4	TGFBR2	ENPP1	GTPBP3	FHOD3	GATAD1	ROR2	SMAD3
HP_ABNORMALITY_OF_PULMONARY_CIRCULATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_PULMONARY_CIRCULATION	EOGT	MT-ND4	TBX20	COX5A	MGP	GJA1	PROS1	TERT	ARSB	ABCC6	HLA-DRB1	ABCD4	KCNJ5	CTCF	PROC	THBD	IL10	CITED2	TET2	STAT1	SFTPB	PDSS1	ZNF699	NOTCH1	IPO8	MYMK	MEG3	TLR4	RPL3L	KRAS	GNAQ	KIAA0319L	THPO	DLL4	COX6B1	STAT4	COX7B	MT-TH	MT-TL1	KCNN4	GDF2	G6PC3	CCN2	DOCK6	F13A1	SMAD4	HSPG2	ACTA2	SLC34A2	ERAP1	ACVRL1	MMACHC	SMAD9	TLL1	BMPR2	MYH7	KIF20A	LAMA2	MTHFR	IDUA	JAK2	IFNGR1	SARS2	ARHGAP31	NKX2-5	ACTC1	MPL	MT-ND6	COG1	NFIX	SMARCAL1	SLC37A4	FOXP1	HBB	MED12	GBA1	PIEZO1	SCARB2	MT-TS2	SLC4A1	F2	ALDH1A2	PIGN	FIG4	FOXF1	TRRAP	IL12A-AS1	EIF2AK4	ENG	MT-TQ	IL6ST	GATA4	LMNA	ENPP1	MYPN	TNNI3	NOD2	MT-ND5	ALMS1	GATA6	TNFSF11	KCNK3	CD55	MYH11	COLQ	HLA-B	CCR6	IL12B	VPS33A	CAV1	MT-CO1	MLX	CACNA1C	C4A	SFTPA2	MYBPC3	IL12A	SFTPC	DLK1	IL23R	KRT18	SERPINC1	TNNT2	COL1A1	MEFV	FGFR1	PTEN	RBPJ	FLNC	ATP13A3	PRIM1	CHST3	AGGF1	ZMPSTE24	CLCN7	IRF5	ATP5F1A	FGFR3	SLC25A24	PPCS	VAC14	VCL	AFF4	BANF1	AKT1	LIPT1	CACNA1D	BTNL2	LAMB2	LIFR	PIGA	UBE2A	COL1A2	MYH6	CCR1	SNX10	MT-CO2	TTC26	NKX2-1	NAA10	DEF6	NDUFB10	FLNA	RTL1	MT-TF	CBS	NF1	KLRC4	NFU1	SLC29A3	PAM16	COX8A	TOM1	TCIRG1	PGM1	PLP1	UBAC2	MED25	VHL	FBN1	MT-CO3	MUC5B	TBX4	MT-TW	CA2	F8	FAS	NDUFA8	MT-ND1	HABP2	IKBKG
HP_REDUCED_FEV1_FVC_RATIO	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_FEV1_FVC_RATIO	CFTR	SCNN1G	HLA-DPB1	DNAH11	ENG	SCNN1A	SCNN1B
HP_ABNORMALITY_ON_PULMONARY_FUNCTION_TESTING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_ON_PULMONARY_FUNCTION_TESTING	DNASE1L3	NLRP3	SMARCE1	FKRP	TERT	ITCH	ARSB	VCP	SCNN1G	LRP12	PARN	IDS	SERPINA1	ACTA1	LRP4	MEGF10	TGFB1	IRF2BP2	MEG3	MYPN	PLOD1	SLC9A3	TSC2	XYLT1	AGRN	SYNE1	CLCA4	BAG3	NEB	SGCG	HPS4	SMO	MESP2	TRAPPC11	NFKB1	CEACAM6	RTEL1	AK9	XYLT2	MT-TN	TINF2	SLC25A21	PDGFB	DNAH11	SLC34A2	FCGR2A	CTLA4	CHRND	JAG2	MYH7	MUSK	KBTBD13	SBF2	CRPPA	CSF2RB	HLA-B	TTN	PRTN3	CFAP410	CHRNA1	TOR1AIP1	ICOS	GDAP1	FRG1	BAP1	GCLC	HES7	AKT1	HPS1	ABCC6	HLA-DPB1	SCNN1A	SCNN1B	IKZF1	PIEZO2	DCTN4	DMD	NF2	HFE	DOK7	EDNRA	FARSA	DKC1	ACP5	SLC11A1	TPM2	CR2	BICD2	CD19	TNFRSF13B	EIF2AK4	ENG	NEK10	MIF	HLA-DRB1	WDR19	KLHL41	RNU4ATAC	MCIDAS	ALMS1	SLC12A6	NOTCH2NLC	CSF2RA	PIK3CA	ACTN2	SMARCB1	GLB1	TSC1	KCNN4	SFTPA2	MYO1H	CHRNB1	SELENON	SFTPC	MAP3K20	DLK1	CHCHD10	CFTR	FGFR3	STAC3	NDUFAF6	MT-TL2	TOR1A	GIPC1	RYR1	SCN4A	STK36	SLC26A9	MT-TL1	PYROXD1	SLC6A14	HMOX1	SFTPA1	GNPTAB	GSTM3	BTNL2	TPM3	NFKB2	GGPS1	SMPD1	MYOT	TRAF7	RNF168	SUFU	CHRNE	FLNB	TNFRSF13C	B3GALT6	NAA10	RTL1	SYT2	RAPSN	COL2A1	DNAH9	MS4A1	COL13A1	CD81	DDR2	TNFSF12	HLA-DPA1	GALNS	COPA	CEACAM3	NKX2-1	PTPN22	MUC5B	STX1A	PRKCD	UNC45B	COL6A2	RPA1
HP_RAYNAUD_PHENOMENON	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RAYNAUD_PHENOMENON	CLCNKB	GUCY1A1	LBR	ACP5	COQ2	STAT4	IRAK1	TREX1	TLR7	STING1	COL4A1	RNASEH2A	ZMPSTE24	RNASEH2C	LSM11	RNU7-1	IFIH1	AGXT	ADA2	HRAS	RNF125	SAMHD1	SPP1	LMNA	ADAR	RNASEH2B	SLC12A3
HP_CORONARY_ARTERY_ANEURYSM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORONARY_ARTERY_ANEURYSM	LDLRAP1	PCSK9	LDLR	APOB	PRKG1	ABCG5	ABCG8
HP_HYPERINTENSITY_OF_CEREBRAL_WHITE_MATTER_ON_MRI	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERINTENSITY_OF_CEREBRAL_WHITE_MATTER_ON_MRI	CREBBP	GFM2	TM4SF20	RAB3GAP2	PYCR2	MMACHC	PLP1	PSAP	EP300	ODC1	NOTCH3	RPL10	RARS1	TREX1	CYP27A1	ABCC9	PAK1	STRADA	UBTF	ARSA	COL4A1	AP5Z1	GNB2	SLC39A14	TRAPPC12	CNKSR2	ZFYVE26	SPG11	CSF1R	NKX6-2	DPYD	HTRA1	CAMK2A	PIK3CA	NSUN3	AHCY	RFT1	TMEM222	NEUROD2	ATN1	CACNA1G	DDHD2	GM2A	ABHD16A	CNBP	B4GALNT1	PUS3	AKT3	ALG2	CLN8	PDP1	LMNB1	ACTL6B	SUOX	PI4KA	MSTO1	MTOR	GAA	SELENOI	LEMD2	CNP	CYP7B1	ACTA2	PRORP	CLN5	SDHB
HP_PERIVENTRICULAR_WHITE_MATTER_HYPERINTENSITIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIVENTRICULAR_WHITE_MATTER_HYPERINTENSITIES	NEUROD2	RAB3GAP2	MMACHC	PSAP	RPL10	DDHD2	GM2A	ABHD16A	ABCC9	PAK1	STRADA	CNBP	ARSA	GNB2	CNKSR2	ACTL6B	SELENOI	CNP	ACTA2	PRORP	TMEM222	CLN5
HP_ABNORMAL_GASTROINTESTINAL_MOTILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GASTROINTESTINAL_MOTILITY	FOXP3	SLC1A3	HNRNPK	MT-ND4	SOX10	MT-ND5	IARS2	TANGO2	FAH	HMBS	PALB2	BRCA1	SERPINA1	BRCA2	TGFB1	UBR7	HSD17B10	MEIS2	TYMP	POLG	MT-CO1	SLC9A3	KRAS	KCNN4	ACTG2	MYLK	ANO1	CAMK2A	TP53	MYO1H	MYH11	SAMD9	RRM2B	IVNS1ABP	CFTR	GLA	AAAS	MT-TH	CLCA4	MT-TL1	CDK4	ATP1A3	LIG3	PALLD	LMOD1	SLC6A8	SLC26A9	COL4A6	ACTB	CLMP	TWNK	CEACAM6	UNC45A	PPOX	SLC6A14	PHOX2B	FLNA	ACTA2	FCGR2A	ATP1A2	MTRFR	HMOX1	TRAPPC11	GSTM3	MYL9	GUCY1A1	IDS	CAMK2B	SMAD4	WT1	MDM2	DHCR7	SON	CACNA1A	MT-CO2	STAT3	GUCY2C	SMO	WFS1	CDKN2A	GCLC	CPOX	GMPPA	ERBB3	MT-TF	DCTN4	FLVCR1	RABL3	MT-ND6	RAD21	HFE	NUTM2B-AS1	EDNRA	FUS	SLC11A1	HMGA2	MT-TS2	COL4A5	DDIT3	CEACAM3	MT-CO3	STX1A	MT-TW	EWSR1	MIF	MT-TQ	CAVIN1	TXN2	MT-ND1
HP_PRURITIS_ON_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRURITIS_ON_HAND	ATP8B1	NR1H4	CFTR	ABCB4	ABCB11
HP_ABNORMAL_PERISTALSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PERISTALSIS	SAMD9	TRAPPC11	IVNS1ABP	RAD21	MYL9	IARS2	GLA	AAAS	GUCY1A1	MYH11	LMOD1	STAT3	COL4A6	COL4A5	ACTB	CLMP	GMPPA	MEIS2	MYLK	PHOX2B	FLVCR1	ACTA2	MYO1H	ACTG2
HP_LOW_APGAR_SCORE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_APGAR_SCORE	NPAP1	HERC2	ALDH7A1	USP9X	PRPS1	SNORD116-1	FGFR3	MCTP2	SNORD115-1	PWAR1	MTM1	PDHA1	PNPO	MKRN3	PWRN1	MAGEL2	LONP1	PLPBP
HP_LOW_1_MINUTE_APGAR_SCORE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_1_MINUTE_APGAR_SCORE	NPAP1	HERC2	USP9X	PRPS1	SNORD116-1	FGFR3	MCTP2	SNORD115-1	PWAR1	MKRN3	PWRN1	MTM1	MAGEL2
HP_GLOMERULAR_DEPOSITS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLOMERULAR_DEPOSITS	COL4A3	COL4A5	COL4A4	ARHGDIA	NUP107	CFH	MME	FN1	LMX1B	CEP83	CD151	DGKE	COL7A1	MMP1	NOS1AP	WDR19	SPRY2	GATA3	RNU7-1
HP_PULMONARY_VENOUS_HYPERTENSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_VENOUS_HYPERTENSION	SLC37A4	PIEZO1	KCNN4	KIF20A	SLC4A1	FLNC	TNNT2	MYPN	TNNI3
HP_CONJUNCTIVAL_HYPEREMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONJUNCTIVAL_HYPEREMIA	MAPT	TNFRSF1A	NLRP3	AP1G1	SHMT2
HP_ABNORMALITY_OF_CARDIOVASCULAR_SYSTEM_ELECTROPHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CARDIOVASCULAR_SYSTEM_ELECTROPHYSIOLOGY	MT-ND4	SDHB	CACNA1S	ARSB	ZIC2	LMNA	VPS37D	POU1F1	ACAD9	SDHD	PLCH1	LRP12	GPC4	VHL	TGIF1	ZNF699	CPT2	TERT	MT-ND1	NODAL	NDUFB11	SLC25A20	TPM2	DNMT3A	MT-CO3	MT-TK	HFE	MT-TC	TECRL	CDKN1B	GNB2	SIX3	TNNI3	CACNA1C	PEX3	FHL1	KCNJ5	CNBP	ATP6V1E1	PTPN11	DBH	TGFBR2	DLL1	MAX	HNF1A	POLG	KCNJ2	GYG1	JAG2	TOP3A	PRDM16	TPO	CPT1A	KCNE1	RYR2	PRKAG2	CALM2	CSF2RB	MYH7	GBA1	PRTN3	MT-ND5	JPH2	PEX5	TTR	TOR1AIP1	PCCA	ABCC6	CACNA2D1	GALC	SCUBE3	FBP1	KCNE5	GNAS	FKBP6	BVES	MGME1	SCN4B	ACTC1	MT-ND6	PEX6	CCND1	MT-ATP6	TAB2	DMD	LHX3	PYGM	MT-ND4L	SGO1	KIF1B	CDC73	FGF8	MT-TS2	MT-TW	ATP6V1A	SCNN1A	CDON	GLI2	SCN5A	GNAI2	SDHA	ATRX	GATA4	CAVIN1	GNA11	MYPN	PPP1CB	SRY	SLC1A3	SPRED1	FGFR1	GATA6	SLC25A4	TANGO2	SCNN1B	LEMD2	SLC12A3	CSF2RA	TTPA	HDAC4	MT-TL1	RAF1	SCN2B	MYO1H	RHCE	SLC40A1	TNNT2	MADD	KCNJ18	SLC25A11	FLNC	EPAS1	GPC3	SURF1	DPP6	CAV3	BAZ1B	BMP2	CASQ2	MT-CYB	RANGRF	CACNA1D	LZTR1	PEX10	SDHAF1	FOXH1	DAXX	ABCG8	EIF4H	CPOX	PEX11B	SHH	MT-TF	COQ4	TLL1	SDHC	SNTA1	KCNQ1	TBX5	HADHA	RYR1	DUOX2	ELP1	SCN3B	PEX12	CALM1	HBB	DISP1	CITED2	ASXL1	NDUFA8	TSC2	CDH2	PLXND1	TRDN	HLA-B	STIL	TSC1	TMEM43	ZNRF3	TSHB	PRKAR1A	PEX7	PEX13	AKAP9	LDB3	EMD	KCNH2	GNAQ	SYNE2	RRAS2	METTL27	TSHR	GLA	MT-TH	IPO8	HCCS	PAX8	TP53	PIK3CA	UCP2	MRAS	HADH	FOXC2	MT-CO1	ATP1A3	GCGR	ACADVL	KCNE3	DPAGT1	EXOSC5	EYA4	BCL7B	SMAD3	CREBBP	ECHS1	NCF1	KIF20A	NKX2-5	MT-TV	TRPM4	GTPBP3	NKX2-6	CLN3	KRAS	POMT2	TTN	BAG5	BRAT1	ERCC6	ABCC9	GNB5	TPM1	CDH23	CDKN2C	GSN	LRP6	HCN4	GATAD1	CIZ1	MYL3	PEX19	KCNK3	GAA	HMBS	COL4A1	LAMB3	DNAJC19	DMPK	PEX2	VPS33A	DYSF	DNAJC30	RHAG	PSEN1	COQ9	LDLR	MTO1	SGCD	RET	ALDOA	MRPL12	PTEN	IFNG	TAFAZZIN	NPPA	TDGF1	RRM2B	BUD23	NFIX	MYL2	MT-ATP8	KCNE2	MYH6	CRLF1	DSP	CUBN	MYBPC3	BANF1	LIPT1	TNXB	CALM3	PLN	HESX1	CACNA1A	MT-CO2	GAS1	TTC26	DEF6	HNF4A	IDS	NAA10	AMN	ALG10B	MT-ND3	PIGU	LMOD2	DSG2	PEX1	LAMA3	RNASEH1	PTCH1	USP18	BTNL2	PCSK9	WIPF1	FBXL4	MT-ND2	GATA5	WIPI2	ANK2	ENPP1	MECP2	PCCB	CASR	FH	HMGCL	NDUFB8	SCO1	MEN1	GJA1	GPX4	RRAS	RIT1	DCAF17	PNPLA2	PHOX2B	HSPG2	GFM2	MLXIPL	GJA5	SLC6A8	DST	IYD	ABCC8	PSMD12	TBX3	XK	HLA-DPB1	FNIP1	IKZF1	HRAS	DUOXA2	POLG2	WAS	GPD1L	PRKG2	PHYH	MMP14	SLC2A10	SCO2	CLIP2	TNNC1	NEU1	MT-TQ	ACTA1	BMP6	CSRP3	JUP	DES	NRAS	PKP2	ISCU	TMEM127	CDC45	MDH2	ERCC8	TG	GRIN1	SRSF2	NOS1AP	DOHH	SCN9A	CLCNKB	SEMA3A	SALL4	TSPYL1	FXN	LPIN1	APOB	NDUFAF3	PSAP	PTPN22	APRT	CRYAB	MGAT2	PPOX	SLMAP	SYNE1	ATP1A2	HJV	BPTF	RMRP	SLC4A3	ELN	SVIL	SCN10A	AKT1	SCN1B	CLCF1	LRP1	ABCG5	SCNN1G	RBM20	MYLK2	COX7B	LARS2	SMC1A	GDAP1	PEX14	BRAF	CDKN1A	ABCA12	HLA-DPA1	SELENON	SOX10	PPA2	P4HA2	PEX26	SOS1	KCND3	DLST	TBX20	RHD	NUP155	GLYCTK	KIT	LDLRAP1	MYOZ2	PLEC	CBL	DTNA	TGFBR1	ECE1	TCAP	STX16	TWNK	NDUFS2	MYRF	TDP2	PSEN2	HLA-DRB1	GTF2IRD1	TET2	UQCRFS1	SLC19A2	CDKN2B	CACNB2	CTLA4	ACADM	TMEM70	GLUL	ADAMTS19	SPECC1L	MYL4	LAMA2	GMPPB	DHCR7	PSMB8	BRF1	ALPK3	ABCA3	TNNI3K	ACTN2	PEX16	YY1	RFC2	EFEMP2	TBL2	NF1	GTF2I	DOLK	PROP1	PRORP	STX1A	KCNJ11	MT-TE	HTRA2	LHX4	STAG2	FMO3	MTFMT	SOS2	CTNNA3	FLAD1	TOR1A	SPRED2	MFAP5	MMP2	SLC5A5	RASA2	AGXT	CTNNB1	IRX5	KCNA5	RAB3GAP2	LAMC2	KYNU	DSC2	GTF2IRD2	LIMK1	LAMP2	CDKN2A	NEXN	TGFB3	HADHB	TMEM270	SCN4A	CLIC2	PGM1	MEFV	SFTPB	SFTPC	KCNJ8	HEPHL1	MRPS14	TPM3	NAXD	FHOD3	SDHAF2	GABRA3	EP300
HP_ABNORMAL_MORPHOLOGY_OF_THE_GREAT_VESSELS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_THE_GREAT_VESSELS	FGF8	CHRM3	MGP	MKKS	GJA1	SEMA3E	VPS37D	TBX1	BAP1	CTCF	FOXE3	GPC4	SFTPB	KYNU	LTBP4	FBN1	ZNF699	RSPH3	RNASEH2C	SMARCB1	TPM2	PTPN11	SETD2	EHMT1	TGFB2	MEGF8	SMAD2	COX7B	GP1BB	ADH5	MAT2A	ADA2	DISP1	KCNN3	ZIC3	RPS28	ZEB2	TGFBR2	WAC	DOCK6	ENG	SKI	RBM10	FLNA	ARID1B	MYH11	VPS33A	PALB2	RNASEH2B	DNAH1	RPS29	CREBBP	CFC1	LZTR1	NPR3	BRCA2	JAG1	NADSYN1	BMPR2	NOTCH1	RPL35A	MYH7	TRIP13	NIPA1	PIGN	PSMD12	WNT4	FGFR3	HGD	TGFBR1	CFAP221	NEK8	TFAP2B	ERCC8	FGF10	GDF1	RIN2	STAG2	PGM3	MKS1	NKX2-5	GATA6	PTH1R	C12orf57	FKBP6	NPHP3	TGFBR3	NCAPG2	DPH5	IFT43	IGBP1	HEY2	ARID1A	TAB2	MCIDAS	TRIO	MAD2L2	ATN1	GAS2L2	CHD7	ATP6V1A	NEK9	GJA5	PRDM13	ARX	BRIP1	SUPT16H	AEBP1	PKD1	CDH2	DHCR24	TRRAP	ARF1	GATA4	PPP1CB	FTO	SRY	GATA5	GNA11	PCGF2	MYCN	DLL3	TNFSF11	FOXF1	PAK2	KDM6A	GABRD	STXBP1	OFD1	SLC25A24	RPL26	UBR7	IL12B	MEIS2	ABCC9	POLR1D	MLX	TCOF1	COL3A1	INTU	KMT2D	EIF2AK4	SALL1	CRELD1	SAMD9	MYLK	UBE3B	SMAD4	RBPJ	RSPO2	TGDS	FLT4	SIX3	DNAAF1	PAH	LSM11	UMPS	WDR37	COL5A1	CTU2	ELN	VAC14	BAZ1B	RPS15A	CCDC22	DVL3	DNAJB11	ZMIZ1	SEC24C	TRAF7	NOTCH2	RPGR	FLI1	SON	ABCG8	EIF4H	GBA1	MCTP2	DYRK1A	KDR	NXN	GJA8	SOX11	ZNF462	CCDC103	CARS1	THSD4	COQ4	HYMAI	CCNO	KCNH1	SRCAP	NR2F2	MASP1	ZFPM2	GLI2	ACSL4	ASCC1	CCNQ	FADD	CCDC39	CITED2	BUB1	AMER1	EIF2AK3	FANCC	TMEM260	PLXND1	DNAJB13	HACD1	BGN	QRICH1	SUFU	POLR1C	MAP3K7	MEG3	BCOR	ERCC6	IGF2	AMMECR1	GATA1	RRAS2	METTL27	ACTA2	IPO8	G6PC3	BUB1B	FBLN5	MRAS	BCL11B	TP63	CHD4	PEX1	ADK	IFNG	FOXJ1	FOXC2	NME8	DGCR6	KRAS	SNX14	CFAP53	HIBCH	ODAD2	DLL4	RAB23	BCL7B	LMBRD1	SMAD3	COL1A1	FOXH1	MAPKAPK5	NCF1	TKT	FBN2	CRKL	RPL10	EFEMP2	DNAH11	RSPH4A	NEK10	RERE	SMC1A	EOGT	HYDIN	SPEF2	NKX2-6	RAC1	KAT6B	TMCO1	PORCN	TGFB3	CHUK	ALG3	SHH	DNAAF2	MED12	PIK3R2	IFIH1	FANCI	SMG8	MLXIPL	TAOK1	PTCH1	DDX11	SMARCC2	CRTAP	PHGDH	THOC6	FGFR1	BICRA	MAPK1	RPL18	PQBP1	STRA6	XRCC2	RPL31	HNRNPK	TBC1D24	TBX2	DGCR2	PLAGL1	PCNT	SNRPN	RNASEH2A	BMPR1A	HIRA	RPS19	SALL4	GLI3	PRKCZ	LDLR	PLD1	PPP2R1A	SOX4	DLK1	SKIC2	WASHC5	ARVCF	FOCAD	PUF60	NSMCE2	ITPR1	ALX1	KCNJ8	HLA-B	FANCF	AGGF1	ROBO4	RAI1	FGFR2	BUD23	NFIX	TSC1	KMT2B	RAF1	MAP2K1	DNAH9	RPS20	SH3PXD2B	CWC27	DNAAF11	SIX6	LIFR	UBE2A	FANCM	NSD1	TDGF1	DMPK	UBE4B	ALG8	TTC26	PIGA	NODAL	NRAS	RPS17	ANK1	IDS	NAA10	DPF2	NF1	SAMHD1	ADAR	GPC3	WDR35	SSR4	ALX3	FMR1	USP9X	DDX59	JMJD1C	RIPPLY2	TCIRG1	CXCR4	B3GAT3	FANCE	RNU4ATAC	FANCG	CIROP	HRAS	USP18	UNC45B	NONO	PCSK9	ODAD1	CHRNG	DLL1	FANCB	AASS	ABCD4	ARSL	HES7	UBE2T	RIT1	TMTC3	CASZ1	MYOCD	FKTN	TUBG1	STK36	PLOD1	RPS24	PIGL	LRRC56	CFAP300	COL18A1	SPECC1L	DHCR7	HSPG2	GLB1	RPS27	ATP2B1	ENPP1	SMARCA4	CCDC65	ARFGEF2	SOS2	ZMPSTE24	RREB1	KAT6A	TBX20	NKAP	MMP21	RRAS	BMP2	THSD1	CD96	DIS3L2	DPM1	WT1	ADAMTS10	DNAH5	ALG12	SMAD6	SPAG1	ASXL2	LOX	PLCB3	AGO2	PRDM16	PACS1	C2CD3	HDAC4	RAD51C	ANGPTL6	SKIC3	APC2	RPL5	PDPN	CDC42	WRN	FANCA	MMP14	PIGO	MED13L	DNAAF5	SLC2A10	ANKS6	ATP6V1B2	CLIP2	SLC37A4	FIG4	KANSL1	PTEN	CEP120	GPC6	MESP2	RFWD3	SMARCD1	MID1	ROR2	ZNF148	GAS1	HCCS	TBX5	BUB3	CSGALNACT1	SPTBN1	NAA20	GAS8	COA6	GNB2	BRAF	PRDM6	ZIC2	DOHH	BRCA1	FOXC1	DGCR8	DNMT3A	ARHGAP31	MAP1B	APOB	NIPA2	CLCN7	ODAD3	PTPN22	B3GLCT	STIL	PIGT	MGAT2	MMP23B	TGIF1	POLR1A	PRKACB	COMT	DNAI2	BPTF	AFF4	CDK8	FLNB	POLA1	EP300	TTC12	ABCG5	ACTB	DNAI1	SNX10	WDR26	LARS2	B3GALT6	ERCC4	MFAP5	ERMARD	SLC29A3	SMARCE1	LMNA	LFNG	SMARCA2	EZH2	PRKG1	DNAAF6	KCNE5	MYH3	COL1A2	SNRPB	P4HA2	POGZ	KDM3B	TBX4	RPS7	SOS1	SHANK3	RSPRY1	DACT1	ADAT3	ABCC6	GLYCTK	LDLRAP1	PKD2	DNAAF4	RPS26	ALDH18A1	FANCD2	RNU7-1	PLCH1	CBL	LTBP1	DTNA	SPEN	TRIP4	ODAD4	ECE1	SMG9	MYRF	SIK3	HLA-DRB1	RBP4	GTF2IRD1	OCLN	YY1	PEX19	TRIP11	CEP57	UQCRFS1	TMEM94	RPL15	PKD1L1	CACNA1C	CDON	RPL11	SLC34A2	TRAIP	ADAMTS19	RPL27	NOTCH3	WDPCP	ACVR2B	NDUFB11	EXT2	BRF1	TLL1	LUZP1	TALDO1	CFAP298	RSPH1	EED	MRPS16	RFC2	ABL1	RPS10	TBL2	PPFIBP1	RSPH9	GTF2I	YY1AP1	KCNAB2	ZMYM2	TREX1	ALDH1A2	MAF	STX1A	CYP7A1	NOD2	ZMYND10	DNAJC30	MYPN	ESCO2	FKBP14	ESS2	CDC42BPB	NEDD4L	COL5A2	BCR	HTRA2	TSFM	KAT8	PRKCD	TELO2	DNAL1	SLC35A2	GANAB	LMX1B	SUCLG1	RBM8A	TSR2	SOX2	APOE	CHST3	DNAAF3	SPRED2	ZBTB7A	PRIM1	SF3B2	COG6	POLR1B	CCDC40	RAD21	MMP2	SF3B4	RASA2	ALG5	TWIST1	ARL6IP6	CPLANE1	ARID2	DYNC2LI1	SMC3	CADM3	SLX4	TSC2	GTF2IRD2	LIMK1	FANCL	RTL1	LEMD3	HPGD	TMEM270	WLS	EMILIN1	BICC1	RPL35	PGM1	OTUD5	MED25	IFT140	ALB	CALM3	DRC1	RAD51	ALG9	TPM3	UFD1
HP_ABNORMAL_SYSTEMIC_BLOOD_PRESSURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SYSTEMIC_BLOOD_PRESSURE	EOGT	CIDEC	CYP11B1	BBIP1	CYP11A1	SDHB	CFI	VPS37D	B2M	SDHD	TREX1	MC4R	FOXE3	MT-ND6	FGFR2	VHL	TET2	IDS	LIPA	CYP11B2	JAK2	CFH	TERT	AVPR2	SPG11	TMEM67	SCNN1G	SLC25A20	CEP19	DNMT3A	CYP17A1	MT-TK	TGFB2	HFE	MT-TC	MAX	THBD	CDKN1B	IFT140	ENPP1	IFIH1	BRCC3	DZIP1L	ASXL1	CYB561	SHPK	CFB	COQ7	RET	SPIB	CASR	CUL3	CELA2A	PBX1	NPHP1	GP1BB	MAT2A	NPHP3	FH	BBS5	KCNJ5	HMGCL	ECE1	DBH	FBN1	TNFRSF11A	DOCK6	ERCC4	RREB1	AIP	ENG	APOA1	PTGIS	KCNJ1	XPNPEP3	LRRK2	THSD1	COQ2	PKD1	MT-CO1	WNK4	MLXIPL	ALMS1	CDH23	ARMC5	CALR	LOX	BMPR2	NOTCH1	LMNB1	PRTN3	DST	WT1	LYZ	MTTP	SPRY2	USP8	ABCC6	COL4A3	GLA	TGFBR1	MAFB	ZFYVE19	LEPR	ERCC8	MT-ND5	TBX1	GMPPA	TXNRD2	GNAS	HLA-DPB1	FKBP6	SLC12A1	KLHL3	TGFBR3	ANGPTL6	IL12RB1	RNU7-1	CCND1	DNAJB11	HEY2	FN1	NTRK1	KIF1B	SMARCAL1	WRN	SLC37A4	MT-TS2	TRIM28	MMP14	CLCN2	MT-TW	IL12A	TRIP13	PDE4D	SLC30A9	SLC2A10	GNB3	SAA1	TRAF3IP1	IMPDH2	BRCA2	CLIP2	DCDC2	CEP164	NNT	ABCB6	USP48	MPL	CC2D2A	SDHA	ERCC6	ATRX	NKX2-5	LMNA	TGFBR2	GNA11	GATA5	BBS2	SOX10	VPS35	POU2AF1	BMP6	F5	WNK1	SCNN1B	TLR7	CFHR3	EXT2	MYH7	CCN2	NR3C2	SLC12A3	NEUROG3	EDA2R	CFHR1	TMEM127	GNB2	KCTD1	CYP3A5	MDH2	PDE8B	IL12B	MLX	CAV1	REN	SRSF2	DNAJC13	MT-TL1	MRAP	PKHD1	ATP7A	FGA	OFD1	PRKAR1A	FARSB	CLCNKB	WDR19	NDUFAF6	PDE3A	PROP1	SMAD6	RBPJ	ARHGAP31	SLC25A11	EPAS1	APOB	GIGYF2	CD2AP	TCF4	SCNN1A	IRF5	APRT	STAR	FMR1	SP110	NR4A2	PPOX	HEXB	EIF4G1	VAC14	SIM1	COMT	POR	INF2	BAZ1B	GBA1	HBB	ELN	CCDC28B	TNFRSF11B	PAX2	GIMAP5	GANAB	MPI	SLC35A2	LEMD3	FUZ	DGUOK	CACNA1D	NOTCH3	SEC24C	HMBS	OTX2	SLC30A10	ABCG5	IFT27	RPGRIP1L	PRKACA	DAXX	ABCG8	EIF4H	LARS2	MTRR	ARSA	HLA-DRB1	TTC8	ADA2	SUGCT	MFAP5	G6PC1	BSCL2	ADAMTSL4	CBS	LAMB2	PAM16	LMX1B	CDKN1A	NFKB2	SCAPER	PRKG1	CEP290	MEN1	MUC1	SDHC	BBS4	PIGM	MC2R	HLA-DPA1	EDA	ACE	ELP1	LEP	GPR101	COL5A1	FOXA2	C3	BNC2	ALG5	DLST	GBE1	LBX1	NR3C1	GJA1	ITCH	HMOX1	ACP5	KIT	MT-CYB	LDLRAP1	ZNRF3	COL3A1	PKD2	STAT1	MYMX	STN1	TJP2	BBS10	BBS12	SOX3	METTL27	INPP5E	DLL4	XYLT1	ACTA2	TP53	H19	MT-CO3	PHF21A	LZTFL1	AGT	GDF2	CPOX	H4C3	GTF2IRD1	SH2B3	NOS3	MBTPS2	IRF4	MEF2A	GLIS3	SMAD4	IFNG	AGTR1	CD46	XYLT2	PRKAG2	CDKN2B	KCNMB1	RYR1	CTLA4	ACVRL1	PLIN1	VANGL1	BCL7B	GPR35	WDPCP	TMEM70	HSD11B2	MYMK	CFAP418	NCF1	BBS1	MT-TV	DHCR7	ABCA3	DIS3L2	MGP	LHX4	SERPING1	ABCB4	GLI2	PPARG	SDCCAG8	DDC	SNCA	HGD	MKS1	RFC2	NOTCH2	GUCY1A1	POU6F2	TBL2	GEMIN4	NF1	SCN2B	SMAD2	GTF2I	MED12	TNPO3	YY1AP1	COL1A1	ACTG2	SERPINA6	DYRK1B	TNFSF15	CDKN2C	GSN	LRP6	REST	STX1A	STAT2	TULP3	NOD2	COL4A5	DNAJC30	MDM2	MT-TE	COL5A2	CACNA1H	OSGEP	TRIM32	FIG4	MYLK	HIRA	FMO3	TBX19	PSAP	LDLR	IFT74	FLT1	LIPE	MKKS	NPHP4	EGFR	PDE11A	KRT18	ARL6	CCR6	ARVCF	BRAF	NSMCE2	GPC3	MT-TF	HELLPAR	KIF12	ACTN4	HLA-B	PRIM1	ZMPSTE24	GCH1	HTRA1	BUD23	NFIX	TSC1	POU3F4	MMP2	ITGA8	CTNNB1	HSD3B2	MT-TQ	TGFB3	COL4A4	CORIN	MST1	PIGA	IFT172	CLDN1	MMEL1	ADD1	KYNU	TMEM237	ABCD3	MT-CO2	TTC26	BBS7	TSC2	GTF2IRD2	LIMK1	DEF6	BBS9	CDKN2A	MT-ND1	TTR	CBL	LRIG2	DCTN1	WDR35	STOX1	TRPC6	MYH11	TOM1	TMEM270	RUNX1	SEMA4D	HESX1	BICC1	INVS	IDUA	JMJD1C	AAAS	RNU4ATAC	ALX4	ACAT1	POU1F1	SFTPB	ALB	SFTPC	PTPN22	BTNL2	ALG9	PCSK9	IQCB1	UFD1	CHRNA3	HPSE2	SDHAF2	CHCHD2	SMAD3	CYP21A2
HP_POSTEXERTIONAL_SYMPTOM_EXACERBATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTEXERTIONAL_SYMPTOM_EXACERBATION	SCN5A	COL9A3	KCNQ1	SLC22A12	PYGM	COMP	SLC2A9	COL9A1	BICD2	KCNE1	COL9A2	PYGL	SVIL	NPPA
HP_CRYPTOZOOSPERMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRYPTOZOOSPERMIA	NR5A1	SYCP2	TDRD9	CATIP	MEIOB	TEX15
HP_ABNORMAL_FACTOR_VIII_ACTIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FACTOR_VIII_ACTIVITY	F8	LMAN1	VWF	MCFD2	SOS1
HP_ABNORMAL_SERUM_BILE_ACID_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SERUM_BILE_ACID_CONCENTRATION	ATP8B1	ABCB4	VPS33B	AKR1D1	AP1B1	KIF12	ABCD3	MYO5B	DNAJC21	SEMA7A	NR1H4	TALDO1	PKHD1	UNC45A	SLC51B	SLC10A1	EFL1	SRP54	TJP2	DZIP1L	VPS50	ABCB11	SBDS
HP_SCLEROSING_CHOLANGITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCLEROSING_CHOLANGITIS	RFXAP	CD40LG	DCDC2	REL	KIF12	ABCB4	RFXANK	CIITA	RFX5
HP_ACROPARESTHESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACROPARESTHESIA	GALC	HEXB	PMP22	PRNP	COMP	SLC26A2	LMX1B	SPTLC2
HP_LINGUAL_DYSTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LINGUAL_DYSTONIA	THAP1	GNAL	NGLY1	VPS13A	ATP13A2
HP_ANKYLOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANKYLOSIS	GNAI3	ZMPSTE24	ADGRG6	PTDSS1	TRPV3	PERP	POR	ENPP1	MUSK	MBTPS2	PLCB4	GDF5	GNAS	FGFR2	FGFR1	WNT7A	MMP2	NOG	TNFRSF11B
HP_ARTERIA_LUSORIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTERIA_LUSORIA	NKX2-6	PLXND1	PLD1	KNSTRN	PIK3CD	DDX6
HP_BONE_MARROW_HYPERCELLULARITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BONE_MARROW_HYPERCELLULARITY	PML	STAT5B	IRF2BP2	RASGRP1	CALR	KIT	TET2	FIP1L1	NPM1	PRKCD	CXCR4	STAT3	FAS	RPS14	RARA	NABP1	ZBTB16	SRC	NUMA1	CASP10	BCOR	MPL	TBL1XR1	SLC7A7	SRSF2	PRKAR1A	ASXL1	FASLG	JAK2
HP_CHRONIC_INFECTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_INFECTION	PML	ZBTB16	HBB	NUMA1	STAT5B	CLCN7	IRF2BP2	TCIRG1	BCOR	PLEKHM1	TET2	SF3B1	BCHE	TBL1XR1	FIP1L1	NPM1	STAT3	CARD9	PRKAR1A	RPS14	RARA	NABP1	MAGT1
HP_SPERMATOGENESIS_MATURATION_ARREST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPERMATOGENESIS_MATURATION_ARREST	TERB1	M1AP	STAG3	PNLDC1	MOV10L1	SYCE1	TERB2	RNF212	XRCC2	ZMYND15	SHOC1	MSH5
HP_ACRAL_BLISTERING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACRAL_BLISTERING	PLEC	KRT5	FERMT1	COL7A1	SMARCAD1	KRT14	COL17A1	FBXO28	ITGB4
HP_IMPAIRMENT_OF_ACTIVITIES_OF_DAILY_LIVING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRMENT_OF_ACTIVITIES_OF_DAILY_LIVING	DEPDC5	SMARCE1	SLC20A2	VCP	ARSA	HSPD1	HS6ST2	MTMR14	FA2H	SACS	FUZ	TBXT	DSTYK	COG5	SLC44A1	SPTLC2	RNF170	CHRNA4	SPG11	NEFL	ATP13A2	RTN2	ALDH18A1	NIPA1	BNC2	MORC2	FMR1	CDKN1B	DPYSL5	SYNE1	ATXN8OS	TBX1	KCNC3	PSAP	COQ2	MNX1	GP1BB	VANGL1	SMO	POLR3B	ZEB2	GABRG2	RREB1	DKK1	PDGFB	CDKN2B	RETREG1	KY	GBA2	CHRNB2	NOTCH2NLC	CHMP2B	CPT1C	LMNB1	HLA-DQB1	GABRB3	WASHC5	CRKL	SBF1	SPTLC1	ISL1	BAP1	AP5Z1	CABP4	ZC4H2	TBCD	TBP	AKT1	FARS2	FITM2	PIGF	FUS	ATXN2	TRPV4	DPH5	ZFYVE26	TP63	FLVCR1	HACE1	NF2	DDHD2	CHRNA2	ZMYM2	NOP56	SPG7	MAPK1	BIN1	CDKN2C	SLC9A6	TIMM50	DNMT1	IGHMBP2	ALMS1	ATL3	GBE1	EIF2AK2	GAA	HMBS	BCR	SCN9A	CACNA1H	PIK3CA	TERT	HIRA	GALNT2	SMARCB1	RYR1	GABRA1	SLC1A4	ABCD1	MYO1H	CLCNKB	CACNA1G	CFAP43	ARVCF	HTRA1	KCND3	HEXB	KCNT1	STUB1	CCL2	FRMD5	COL2A1	PANK2	SPAST	GJC2	ATXN10	NOTCH3	PEX11B	NEXMIF	MAPK8IP3	ALS2	KMT2B	COMT	JRK	RSRC1	ATL1	GALC	SEC24C	FAR1	HLA-DRB1	IFT57	UBAP1	DMPK	MYF6	TRAF7	SUFU	SQSTM1	SLC2A1	CRH	KIF5A	AUH	C19orf12	TTR	LRIG2	ARX	CDKN1A	CAPN1	SCN4A	PDGFRB	COPB1	MEN1	DNM2	JMJD1C	PLP1	SIGMAR1	TYROBP	PDCD1	SALL1	VANGL2	PRDM8	ACSF3	ADNP	CYP7B1	TRIO	DACT1	UFD1	HPSE2	SLC12A3
HP_ABNORMAL_OVARIAN_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_OVARIAN_MORPHOLOGY	BBIP1	VPS37D	SDHD	LMNA	CHD7	DHH	FOS	NR5A1	PSMC3IP	PHKA2	SOX3	NUP107	ZFPM2	BBS10	BBS12	MRPS22	CEP19	METTL27	SEC23B	SETD2	NPHP1	LZTFL1	GNAS	CYP17A1	BBS5	STK11	SRY	WT1	SPIDR	GTF2IRD1	WWOX	KISS1	PMM2	DCAF17	LARS2	CYP19A1	HS6ST1	BCL7B	HNF1A	MLXIPL	WDPCP	CFAP418	TP63	NCF1	DMRT1	C14orf39	NR0B1	BBS1	DUSP6	LEPR	PPARG	CYP11B1	PTPN11	FKBP6	SDCCAG8	WDR11	NOBOX	MKS1	RFC2	PRLR	TBL2	BMP15	POLR3H	TACR3	DHX37	PLIN1	PIK3CA	TAC3	MCM8	GTF2I	SLC37A4	GNRH1	MMP14	CLIP2	GNRHR	SOX9	CAVIN1	ESR1	HARS2	MID1	CYB5A	STX1A	PTEN	CBX2	MT-CYB	ATM	BBS2	FSHR	DNAJC30	DMRT3	ALMS1	ERAL1	SDHB	TRIM32	ANTXR2	USF3	LMNB2	BNC1	BSCL2	INSR	OFD1	MSH3	SETBP1	IFT74	FLT1	F7	VAMP7	SPRY4	MKKS	PAX6	POR	GATA4	CIDEC	NSMF	ARL6	BUD23	NTHL1	TBX1	MMP2	NDNF	STAG3	BAZ1B	MAP3K1	ELN	AKT1	ZSWIM7	AKT2	CORIN	PPP1R12A	FOXL2	FIGLA	AGPAT2	IFT27	IFT172	LIPE	PROK2	EIF4H	PDE11A	BBS7	GTF2IRD2	LIMK1	TTC8	BBS9	AR	FGF8	FGFR1	STOX1	KISS1R	TMEM270	PHKG2	SCAPER	FGF17	LHB	BBS4	ZPR1	CEP290	PHKB	MSX1	PRKAR1A	LEP	ALG9	KLLN	PROKR2	CAV1	SDHC
HP_ABNORMAL_OVARIAN_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_OVARIAN_PHYSIOLOGY	POLG	ERAL1	FAS	CHD7	BNC1	PSMC3IP	NBN	BMP4	NUP107	MRPS22	ANAPC7	RIN2	NR5A1	FMR1	SPRY4	HSF2BP	TWNK	NPHP4	EIF2B2	WDR19	RASGRP1	ANAPC1	NPHP3	EIF2B3	SPIDR	EIF2B5	BMP15	NSMF	AIP	PMM2	FSHR	ZMPSTE24	KISS1	DCAF17	LARS2	STAG3	BLM	RCBTB1	FSHB	GNRH1	HS6ST1	ZSWIM7	FOXL2	CDH23	FIGLA	MEN1	GGPS1	ATM	HFM1	PRKCD	C14orf39	PROK2	DUSP6	CASP10	TTI2	POF1B	EIF2B1	SDCCAG8	CHP1	FGF8	WDR11	NOBOX	AIRE	FASLG	FGFR1	KISS1R	PRLR	POLG2	EIF2B4	ZFHX4	AARS2	POLR3H	CEP290	TACR3	FGF17	GALK1	TAC3	MCM8	INVS	B4GALNT1	ERCC4	THOC6	TRAF3IP1	DIAPH2	MCM3AP	GNRHR	CEP164	GALT	PROKR2	NPHP1	XRCC2	LMNA	IQCB1	COL25A1
HP_ABNORMAL_FEMORAL_TORSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FEMORAL_TORSION	KIFBP	ACTB	FIBP	P3H1	MADD	CRTAP	SLC26A2	PI4KA
HP_ABNORMAL_ENDOCRINE_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ENDOCRINE_PHYSIOLOGY	GHSR	ADAT3	WDR4	SMARCE1	PNPLA6	ZIC2	IARS2	CTSK	POU1F1	STIL	ACP5	SNRPN	PLCH1	MKRN3	TGIF1	RNPC3	NODAL	SOX3	WASHC5	PTCH1	PRKAR1A	IGF2	BRCC3	TDGF1	SIX3	MAGEL2	STX16	POMC	THOC2	BTK	GLI3	GNAS	KATNIP	SMO	LHX4	AIP	UCP2	DLL1	CEP57	FOXH1	GAS1	HNF1A	DCAF17	PDGFB	FGF8	TMEM67	LHX3	SHH	POLR3A	ALMS1	CDH23	KIAA0753	ABCC8	TP63	YY1	NFKB2	BAP1	GLI2	AKT1	TXNRD2	SIN3A	DYRK1A	FLNB	KMT2A	TMCO1	NF2	RRAS2	FANCF	DISP1	CHD7	MED12	MC2R	EIF2S3	CDON	PROP1	MARS2	HERC2	NNT	SRD5A3	CYP17A1	NDN	OCA2	ZNF148	NPAP1	FGFR1	TBX2	KCNJ11	PITX2	SNORD115-1	POLE	PWRN1	PIK3CA	TERT	ADNP	GNB2	SMARCB1	STAG2	SNORD116-1	PWAR1	GMNN	SRP54	MRAP	MAP2K2	SBDS	POR	MADD	GRB10	FANCI	NHLH2	STAR	POU3F4	SP110	TBCE	HESX1	PDE4D	PREPL	VPS13B	PPOX	RFWD3	SLC7A7	POLR3GL	GH1	AFF4	RBM28	OTX2	MEN1	MOGS	TRAF7	SUFU	KANSL1	STAT5B	DNAJC21	SMC1A	EFL1	LEPR	SLC29A3	CDKN1C	ARMC5	PCSK1	GRM7	GHRHR	FOXA2	NKX2-1	MPDU1	TBCK	ARNT2	ESCO2
HP_ABNORMAL_RESPONSE_TO_ACTH_STIMULATION_TEST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RESPONSE_TO_ACTH_STIMULATION_TEST	MC2R	CYP17A1	TXNRD2	RBM28	POR	NFKB2
HP_ABNORMAL_RESPONSE_TO_INSULIN_TOLERANCE_TEST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RESPONSE_TO_INSULIN_TOLERANCE_TEST	MC2R	STAR	GHRHR	NNT	MRAP	TXNRD2	LHX4	POU1F1
HP_IMPAIRED_CORTISOL_RESPONSE_TO_INSULIN_STIMULATION_TEST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_CORTISOL_RESPONSE_TO_INSULIN_STIMULATION_TEST	MC2R	STAR	NNT	MRAP	TXNRD2
HP_ABNORMAL_RESPONSE_TO_GLUCAGON_STIMULATION_TEST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RESPONSE_TO_GLUCAGON_STIMULATION_TEST	MED12	UCP2	KCNJ11	ABCC8	HNF1A
HP_DECREASED_PREALBUMIN_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_PREALBUMIN_LEVEL	FOXP3	CRLF1	HLA-DQA1	NOS1	HLA-DQB1
HP_ABNORMAL_HUMERUS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HUMERUS_MORPHOLOGY	COL2A1	GNPTAB	LAMA5	PRKG2	KIAA0753	B3GALT6	SLC26A2	RNU4ATAC	SRCAP	TMEM251	RSPO2	ATP7A	FLNB	LBR	CREB3L1
HP_ABNORMAL_THYROID_STIMULATING_HORMONE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_THYROID_STIMULATING_HORMONE_LEVEL	CPE	TBL1X	TPO	LHX3	ALMS1	IGSF1	POU1F1	TSHR	HESX1	SLC16A2	THRB	IYD	TSHB	PAX8	DUOX2	SECISBP2	LHX4	PSMB8	PROP1	OTX2	PDGFRB	GNAS	KCNJ18	NKX2-1	MRPS7	TG	SLC35A2	SLC5A5	CDH23	PMM2	IRS4	PRKAR1A	DCAF17	DUOXA2	SMARCAL1
HP_DECREASED_THYROID_STIMULATING_HORMONE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_THYROID_STIMULATING_HORMONE_LEVEL	KCNJ18	CPE	TSHB	LHX3	POU1F1	LHX4	PROP1	OTX2	TSHR	HESX1
HP_ABNORMAL_CIRCULATING_INHIBIN_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_INHIBIN_LEVEL	MAGEL2	NDN	POR	SNRPN	XRCC2	OCA2
HP_ABNORMAL_CIRCULATING_ANTIMULLERIAN_HORMONE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_ANTIMULLERIAN_HORMONE_CONCENTRATION	XRCC2	AR	DHX37	AMH	AMHR2	C14orf39	SPIDR
HP_ABNORMAL_UTERUS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_UTERUS_MORPHOLOGY	ELN	PIGN	LRP2	SRY	ESCO2	BRAF	FANCB	FH	SETBP1	RARB	SDHD	POLE	FOXF1	UBE2T	SDHB	COL5A2	COL3A1	APC	RIPK4	TNXB	HYLS1	USF3	STAT6	GNB2	RAD54B	NRAS	DYNC2I1	FRAS1	TGFBR1	MSH3	INTU	WDR35	SALL1	SEC23B	SPECC1L	BRCA1	MNX1	POLD1	FLI1	MSH2	MSH6	TBX3	IPO8	PTPN12	MCC	BMPR1A	TP53	AXIN1	TGFBR2	FANCF	FGFR2	COL4A6	HOXA13	IFT80	NTHL1	RPS20	PIK3CA	SLC6A17	SF3B4	FGFR3	ITGA8	GATA3	LARS2	EPCAM	FREM2	MLH3	PALB2	HNF1B	DYNC2H1	SMAD3	BRCA2	PPP1R12A	CDH1	GRIP1	AKT1	AURKA	BUB1	DCC	NDP	FANCM	DHCR7	SLX4	NAB2	DACT1	SRC	PTEN	FLCN	TLR2	FGF10	PTPRJ	CCND1	ERCC4	FANCL	WT1	BUB1B	SEMA4A	DLC1	RAD51C	ALG9	FANCD2	CTNNB1	PDGFRL	MAD2L2	MLH1	CDC73	FANCA	DYNC2I2	FANCI	CHEK2	FANCE	FANCG	STK11	COL4A5	COL1A1	THOC6	BRIP1	KLLN	COL5A1	CCNQ	PHGDH	PLA2G2A	STRA6	RPS6KA3	PMS2	GREM1	RAD51	RFWD3	XRCC2	MID1	FANCC	SDHC	EP300	BAX	AXIN2
HP_TRICEPS_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRICEPS_WEAKNESS	CHRNE	POMT1	JAG1	ADSS1	CHRND	DYSF	AK9	CHRNA1	MYH7	CHRNB1	RAPSN	DOK7	FBXO38	MFN2	SCN4A	LRP4	COL13A1	AGRN	MUSK
HP_RECURRENT_GASTROENTERITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_GASTROENTERITIS	FOXP3	ADAT3	IRF9	VPS33A	SP110	EGFR	CD3E	ADAM17	CD3G	BLM	SLC35C1	MAN2B1	DCLRE1C
HP_ABNORMAL_B_TYPE_NATRIURETIC_PEPTIDE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_B_TYPE_NATRIURETIC_PEPTIDE_LEVEL	BAG5	GAA	RASA1	SDHD	TNNT2	TTR
HP_THINNING_OF_DESCEMET_MEMBRANE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THINNING_OF_DESCEMET_MEMBRANE	PAX6	CYP1B1	FOXC1	OVOL2	FOXE3	PITX2
HP_IMPAIRED_OROPHARYNGEAL_SWALLOW_RESPONSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_OROPHARYNGEAL_SWALLOW_RESPONSE	TSEN34	TSEN2	TSEN54	PMP22	PLAA	NGLY1	GIPC1	TAF1	NOTCH2NLC	TSEN15	SEPSECS	BRAF
HP_MULTIFOCAL_SEIZURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIFOCAL_SEIZURES	PIGS	WARS2	GALNT2	ADPRS	SMC1A	CARS2	NECAP1	TANGO2	SLC13A5	ATP1A3	FRRS1L	BRAT1	CDKL5	TBCK	PIGQ	PPP2R5D	TFE3
HP_POSTTERM_PREGNANCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTTERM_PREGNANCY	MAGEL2	NDN	SNRPN	DUOX2	OCA2
HP_NUCHAL_RIGIDITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NUCHAL_RIGIDITY	UNC93B1	TICAM1	TRAF3	PRRT2	TLR3	TBK1	CACNA1A	IRF3	SCN1A	ATP1A2
HP_WRIST_DROP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WRIST_DROP	PLOD1	MORC2	REEP1	CADM3	LDB3	NF2	ACTA1
HP_ABNORMAL_CIRCULATING_PROGESTERONE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_PROGESTERONE_LEVEL	EIF2B4	EIF2B1	EIF2B2	CYP17A1	EIF2B3	CYP11B1	HSD3B2	EIF2B5	POR	FOXL2
HP_DECREASED_CIRCULATING_DEHYDROEPIANDROSTERONE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_DEHYDROEPIANDROSTERONE_CONCENTRATION	PRKAR1A	MC2R	STAR	POR	NNT	MRAP	TXNRD2
HP_INAPPROPRIATE_ANTIDIURETIC_HORMONE_SECRETION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INAPPROPRIATE_ANTIDIURETIC_HORMONE_SECRETION	PPOX	MOGS	LHX3	SP110	POU1F1	LHX4	PROP1	HESX1
HP_ABNORMAL_RADIOACTIVE_IODINE_UPTAKE_TEST_RESULT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RADIOACTIVE_IODINE_UPTAKE_TEST_RESULT	TPO	LHX3	TRHR	POU1F1	TG	SLC5A5	HESX1	IYD	TSHB	DUOXA2	DUOX2	LHX4	TSHR	PROP1
HP_INTERNALLY_NUCLEATED_SKELETAL_MUSCLE_FIBERS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERNALLY_NUCLEATED_SKELETAL_MUSCLE_FIBERS	TTN	ACTN2	NOTCH2NLC	ANO5	LAMA2	RYR1	SQSTM1
HP_SWOLLEN_LIP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SWOLLEN_LIP	XPNPEP2	ANGPT1	PLG	PHGDH	HS3ST6	KNG1	MYOF
HP_PRODUCTIVE_COUGH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRODUCTIVE_COUGH	PML	DNAH9	ZMYND10	SPAG1	IRF2BP2	DNAJB13	TTC12	FOXJ1	DNAAF11	FIP1L1	LRRC56	SCNN1G	RPGR	NABP1	DNAI1	GAS8	DNAH11	ZBTB16	CFAP221	DNAAF4	OFD1	RSPH4A	RSPH3	NEK10	DNAL1	HYDIN	SCNN1A	STK36	SPEF2	CFAP298	SCNN1B	ODAD4	RSPH1	ODAD2	CFAP300	CCDC103	CFTR	STAT5B	MCIDAS	CCNO	RSPH9	GAS2L2	DNAAF2	CCDC65	DNAAF3	NPM1	DNAAF6	STAT3	RARA	DNAAF5	NUMA1	DNAAF1	ODAD3	CCDC40	NME8	BCOR	DRC1	TBL1XR1	CCDC39	ODAD1	PRKAR1A	DNAI2	DNAH1	DNAH5
HP_ABNORMAL_SUBCLAVIAN_ARTERY_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SUBCLAVIAN_ARTERY_MORPHOLOGY	NKX2-6	PLXND1	CREBBP	ACTA2	PLD1	KNSTRN	PIK3CD	DDX6	EP300
HP_DELIRIUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELIRIUM	RYR1	PRDX1	MMACHC	ALAD	NAGS	SLC25A13	MT-TE	DNMT1	FIG4
HP_ABNORMAL_RENAL_CORPUSCLE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_CORPUSCLE_MORPHOLOGY	FOXP3	DNASE1L3	FCGR2B	MT-ND4	SDHB	WDR4	WIPF1	TP53RK	LMX1B	ITGA3	TREX1	ANLN	IL10	C1QA	VHL	MYOCD	LMNB2	MT-ND1	SLC41A1	TLR4	DNMT3A	MT-TK	DNASE1	NARS2	TBC1D8B	APOL1	MT-ND5	RET	STAT4	TRIM8	NUP85	GLA	RASGRP1	MT-TH	LMNA	MT-TL1	AVIL	FH	NPHS2	BSND	ARHGDIA	PTPRO	NUP133	KCNJ1	WT1	MAX	JAG1	VPS33A	SCARB2	HNF1B	CTLA4	CRB2	CLCN5	ERAP1	NUP37	COL4A3	SOX18	MMACHC	MTX2	MYO1E	GON7	EMP2	PRTN3	LAMA5	COL7A1	GAPVD1	SOCS1	SPRY2	MAGI2	INF2	ANKFY1	IFNGR1	NUP205	MME	PGM3	HLA-DPB1	NPHP3	NPHS1	SLC12A1	MT-ND6	REN	PTPN22	FASLG	WAS	RNU7-1	LAGE3	MT-ATP6	PAX2	NF1	FN1	WDR73	NUP107	CD81	SMARCAL1	ACTN4	TRPC6	COQ6	YRDC	MT-TS2	SDHD	TPRKB	CFHR5	SLC37A4	SDHA	DGKE	IL12A-AS1	MT-TQ	NUP160	WDR19	COL4A5	ITGB4	AMMECR1	ALMS1	MT-ND2	MT-TE	FAH	C4A	NOS1AP	SGPL1	FAS	OSGEP	ADA	TMEM127	HLA-B	COQ2	PRKCD	MDH2	FCGR2A	MT-CO1	CFI	IL12A	NUP93	IL23R	PLCE1	CLCNKB	CD151	MEFV	COQ8B	SDHC	SLC25A11	COL4A4	EPAS1	FOXC2	KANK2	CD2AP	KIF1B	SEC61A1	MT-TV	KIRREL1	SLC7A7	GATA3	C1QC	DAAM2	MMP1	CCR1	LPIN2	MT-CO2	MT-TW	MTRR	CASP10	NAA10	ZNFX1	G6PC1	MT-TF	DNASE2	KLRC4	LAMB2	MT-ND3	OCRL	CFH	MUC1	JAK1	CEP83	HLA-DPA1	COPA	KCNE5	ELP1	UBAC2	APOE	ZAP70	ACSL4	MT-CO3	C1QB	ARHGAP24	PLEC	DLST	SDHAF2	SLC12A3
HP_ABNORMAL_BOWMAN_CAPSULE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BOWMAN_CAPSULE_MORPHOLOGY	KIRREL1	ZAP70	NOS1AP	EMP2	SGPL1	SLC41A1	YRDC	DAAM2	AVIL
HP_SHOCK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHOCK	SCNN1B	LMOD2	JUP	TRDN	RPL3L	SDHA	NAA10	ATRX	SCNN1G	ABCC6	MYL2	SCNN1A	DSP	DAXX
HP_HYPOVOLEMIC_SHOCK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOVOLEMIC_SHOCK	SCNN1B	JUP	SCNN1G	SCNN1A	DSP
HP_FLUSHING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLUSHING	SLC1A3	SDHB	MAOA	KIT	ATRX	VHL	USP8	CACNA1A	TMEM127	MDH2	DNMT3A	SETD2	DEPDC5	HNF4A	CBL	SRSF2	RET	HPGD	NPRL3	ASXL1	APC2	TP53	NPRL2	RUNX1	NF1	SCN9A	SDHD	NSD1	ADGRE2	ATP1A3	FH	BRAF	SDHC	SLC25A11	EPAS1	TET2	NR3C1	CDH23	KIF1B	MAX	USP48	SDHA	RYR1	ALDH2	ATP1A2	DLST	SDHAF2
HP_ABNORMAL_PERIFOLLICULAR_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PERIFOLLICULAR_MORPHOLOGY	LRP1	KRT81	KRT86	HLA-DRA	KRT83	MBTPS2
HP_CUTANEOUS_ABSCESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTANEOUS_ABSCESS	PSENEN	IL10RB	MNX1	RIPK1	OTULIN	GJB2	UBE2A	IL6ST	G6PC3	PGM3	TGFB1	ELANE	CARMIL2	IL17RA	IKZF3	ELF4	MPEG1	BTK	CYBC1	STAT3	PSEN1	IL10RA	LCP2	GJB6	ZNF341	CTSC	IL6R	IKBKB
HP_MYOFIBER_DISARRAY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOFIBER_DISARRAY	ACTN2	LMOD2	MYL2	SCO2	VCL	PRKAG2	MYBPC3	SMPX
HP_CARDIOMYOCYTE_HYPERTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIOMYOCYTE_HYPERTROPHY	ALPK3	TNNI3	ACTN2	DOLK	ACTC1	GYG1	VCL	DSP
HP_INTERSTITIAL_CARDIAC_FIBROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERSTITIAL_CARDIAC_FIBROSIS	KIF20A	DOLK	ACTC1	FLNC	TNNT2	MYPN	TNNI3	LMNA	MYH7	RPL3L
HP_ABNORMAL_CARDIOMYOCYTE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CARDIOMYOCYTE_MORPHOLOGY	ALPK3	DOLK	LMOD2	COA5	RPL3L	TNNI3	ACTN2	PNPLA2	ACTC1	GYG1	CACNA1S	RYR1	VCL	DSP
HP_DEXTROTRANSPOSITION_OF_THE_GREAT_ARTERIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEXTROTRANSPOSITION_OF_THE_GREAT_ARTERIES	SMAD2	ZIC3	NODAL	SMG9	ACVR2B	CIROP	ZNF462
HP_VEGETATIVE_STATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VEGETATIVE_STATE	TTC26	EPM2A	ARSA	PSAP	SHQ1	NHLRC1	PIGA	PLA2G6	ISCA2	AARS1	ABCD1
HP_ECCHYMOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECCHYMOSIS	PML	ITGB3	UNC13D	GIMAP5	F13A1	F2	IRF2BP2	ITGA2B	CALR	CHST14	ATRX	FIP1L1	COL5A2	USP8	NABP1	PRF1	ITGA2	ZBTB16	IFNG	SBDS	F13B	HPS1	COL3A1	GFI1B	JAK2	TP53	HPS6	GP1BA	STAT5B	GGCX	TERT	BRAF	TET2	NPM1	STAT3	RARA	NR3C1	TBXA2R	CDH23	NUMA1	GP6	COL1A1	STXBP2	STX11	COL5A1	TERC	USP48	BCOR	MPL	TBL1XR1	AIP	CD109	PRKAR1A	GBA1	GP1BB	P2RY12
HP_MACULAR_PURPURA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_PURPURA	PML	ITGB3	DCLRE1B	UNC13D	GIMAP5	F13A1	F2	CASP10	IRF2BP2	ITGA2B	WIPF1	CALR	GP1BB	CHST14	FYB1	ATRX	FIP1L1	COL5A2	USP8	NABP1	PRF1	ITGA2	WAS	ZBTB16	GP1BA	IFNG	SBDS	GATA1	F13B	HPS1	HOXA11	RAB27A	COL3A1	TREX1	FERMT3	GFI1B	JAK2	ETHE1	SAMD9	TP53	HPS6	STAT5B	GGCX	TERT	BRAF	TET2	FCGR2C	NPM1	STAT3	OCLN	RARA	NR3C1	TBXA2R	ETV6	APOE	CDH23	NUMA1	GP6	COL1A1	STXBP2	GNA14	STX11	COL5A1	TERC	GP9	USP18	USP48	BCOR	NEU1	MPL	TBL1XR1	AIP	CD109	CLCN7	GBA1	PRKAR1A	LCP2	P2RY12	PEPD
HP_METAPHYSEAL_STRIATIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METAPHYSEAL_STRIATIONS	WDR26	MTAP	RAB3GAP2	ANAPC1	KIF22	RMRP	TONSL	PISD	AMER1	PORCN	RECQL4	ADA	POLE
HP_INTESTINAL_PERFORATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTESTINAL_PERFORATION	TYMP	POLG	C1R	GATA6	B2M
HP_ANKLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANKLE_WEAKNESS	CHRNE	CHRND	LDB3	TTN	AK9	CHRNA1	CHRNB1	RAPSN	DOK7	MATR3	SCN4A	LRP4	COL13A1	BSCL2	AGRN	MUSK
HP_ABNORMAL_CELL_PROLIFERATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CELL_PROLIFERATION	PNP	STAT1	REL	RASGRP1	IL2RA	CTPS1	CD27	IKBKB	IL2RG	CD3E	RAC2	RAG2	RFX5	PGM3	TGFB1	RAG1	SYK	RFXAP	DOCK2	CD247	CARD11	MRTFA	KNSTRN	WIPF1	RFXANK	CD3D	DEF6	PIK3CD	MGAT2	EXTL3	ZAP70	LIG1	CIITA	NSMCE3	JAK3	LCP2	IL7R
HP_ABNORMAL_T_CELL_PROLIFERATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_T_CELL_PROLIFERATION	DOCK2	CARD11	MRTFA	WIPF1	RASGRP1	CTPS1	CD3E	RAG2	LIG1	NSMCE3	LCP2	PGM3	TGFB1	RAG1
HP_DECREASED_LYMPHOCYTE_PROLIFERATION_IN_RESPONSE_TO_MITOGEN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_LYMPHOCYTE_PROLIFERATION_IN_RESPONSE_TO_MITOGEN	PNP	STAT1	RASGRP1	IL2RA	CD27	IKBKB	IL2RG	RAC2	RAG2	RFX5	RAG1	SYK	RFXAP	CD247	KNSTRN	RFXANK	CD3D	PIK3CD	MGAT2	EXTL3	CD3E	ZAP70	CIITA	JAK3	IL7R
HP_DECREASED_LYMPHOCYTE_PROLIFERATION_IN_RESPONSE_TO_ANTI_CD3	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_LYMPHOCYTE_PROLIFERATION_IN_RESPONSE_TO_ANTI_CD3	RAC2	STAT1	KNSTRN	JAK3	PIK3CD	IL2RA
HP_ABNORMAL_PROPORTION_OF_CD4_POSITIVE_T_CELLS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PROPORTION_OF_CD4_POSITIVE_T_CELLS	PIK3R1	IVNS1ABP	RASGRP1	MYC	SMARCAL1	CD4	IL2RG	ATM	PRKCD	FAS	LCK	LAT	RFX5	PGM3	SASH3	DOCK8	LEP	LEPR	CASP10	RFXAP	WAS	KNSTRN	RFXANK	DEF6	UNC119	ITK	PIK3CD	OTULIN	EXTL3	ATP6AP2	EPG5	HLA-DPB1	BLM	CIITA	NSMCE3	LCP2	FASLG	TOM1	IL7R	MAGT1	IKBKB
HP_ABNORMAL_PROPORTION_OF_CD8_POSITIVE_T_CELLS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PROPORTION_OF_CD8_POSITIVE_T_CELLS	PIK3CG	CASP10	WAS	IL2RG	WIPF1	RASGRP1	EXTL3	PRKCD	ZAP70	FAS	CD3G	BLM	NSMCE3	FASLG	IL7R	PGM3	SASH3	CD8A	TCF3	IKBKB
HP_ABNORMAL_CD4_CD8_RATIO	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CD4_CD8_RATIO	WAS	ZAP70	RFXAP	RFXANK	RASGRP1	DEF6	UNC119	CASP8	IL2RA	CTPS1	WDR1	IL2RB	AP3B1	POMP	GATA2	CIITA	RFX5	PGM3	MAGT1
HP_ABNORMAL_PROPORTION_OF_NAIVE_T_CELLS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PROPORTION_OF_NAIVE_T_CELLS	SYK	PIK3R1	IL2RG	SASH3	SMARCAL1
HP_ABNORMAL_PROPORTION_OF_DOUBLE_NEGATIVE_ALPHA_BETA_REGULATORY_T_CELL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PROPORTION_OF_DOUBLE_NEGATIVE_ALPHA_BETA_REGULATORY_T_CELL	FOXP3	PIK3CG	FASLG	CASP10	PRKCD	FAS	RASGRP1
HP_REDUCED_ANTIGEN_SPECIFIC_T_CELL_PROLIFERATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_ANTIGEN_SPECIFIC_T_CELL_PROLIFERATION	RAG2	DOCK2	CARD11	NSMCE3	LCP2	PGM3	CTPS1	RAG1
HP_IMPAIRED_ANTIGEN_SPECIFIC_RESPONSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_ANTIGEN_SPECIFIC_RESPONSE	IGKC	PIK3CD	B2M	BTK	CD247	RIPK1	AICDA	LRBA	ICOS	PRKCD	TNFRSF13C	FAS	ADA	PGM3	SASH3	RAG1	CARMIL2	CASP10	DOCK2	WAS	KNSTRN	CASP8	HYOU1	IGHG2	NSMCE3	CD19	CR2	CARD11	FASLG	ALG12	TCF3	REL	RASGRP1	IL2RA	CD81	CTPS1	RAC2	RAG2	ARHGEF1	SLC35C1	TNFRSF13B	CTNNBL1	IRF2BP2	COG6	ZAP70	PMM2	IKBKG	LCP2	CD70	MAGT1
HP_INCREASED_PROPORTION_OF_CD25_MAST_CELLS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_PROPORTION_OF_CD25_MAST_CELLS	TET2	RUNX1	CBL	LYST	SRSF2	ASXL1
HP_ABNORMAL_CHROMOSOME_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CHROMOSOME_MORPHOLOGY	MDM4	POT1	PARN	ZCCHC8	RTEL1	TYMS	TINF2	TP53	TERT	WRAP53	RPA1
HP_HIGH_SERUM_CALCITRIOL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_SERUM_CALCITRIOL	CLCN5	VDR	SLC34A3	KL	SLC34A1
HP_ABNORMAL_NASAL_MUCUS_SECRETION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NASAL_MUCUS_SECRETION	SDHD	SCN9A	CCDC39	ODAD1	LRRC56	SREBF1	DNAH1	CCDC40
HP_INCREASED_BODY_MASS_INDEX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_BODY_MASS_INDEX	THRA	CORIN	THOC2	FLT1	STOX1
HP_ABNORMAL_CEREBELLAR_CORTEX_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CEREBELLAR_CORTEX_MORPHOLOGY	ATP6V1B2	TBC1D24	POLG	TWNK	PNPT1
HP_ABNORMAL_CIRCULATING_OSTEOCALCIN_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_OSTEOCALCIN_LEVEL	ESR1	CCDC134	FAM20A	COL2A1	FN1	SLC34A3	AVP	SLC34A1
HP_ABNORMAL_SPEECH_PROSODY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SPEECH_PROSODY	MT-ATP6	VPS35	FBXO7	MT-ND2	MT-ND4	GBA1	SNCA	FOXP2	CWF19L1	GIGYF2	MT-TW	MAPT	MT-ND1	SRPX2	MT-TV	LRRK2	MT-TK	MT-TL1	EIF4G1	DNAJC13	MT-ND5	MT-ND6	GRIN2A	MT-ND3
HP_MONOTONIC_SPEECH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MONOTONIC_SPEECH	EIF4G1	GBA1	VPS35	DNAJC13	FBXO7	SNCA	CWF19L1	GIGYF2	LRRK2
HP_PREGNANCY_EXPOSURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREGNANCY_EXPOSURE	SERPINC1	MME	TP63	IRF6	NECTIN1	MSX1
HP_EROSION_OF_ORAL_MUCOSA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EROSION_OF_ORAL_MUCOSA	LAMA3	COL7A1	MMP1	KRT5	DSG3	LAMC2	LAMB3	KRT14
HP_PENILE_FRECKLING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PENILE_FRECKLING	PSENEN	PTEN	POFUT1	POGLUT1	KRT5
HP_PULMONARY_OPACITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_OPACITY	STN1	SFTPC	FAM13A	SFTPA2	TERC	ATP11A	TERT	RTEL1	SFTPB	IFIH1	BMPR2	NKX2-1	COL3A1	PARN	SFTPA1	CSF2RB	ABCA3	HLA-DPB1	EIF2AK4	SLC34A2	DSP	DPP9	CSF2RA	MUC5B
HP_SOFT_TISSUE_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SOFT_TISSUE_NEOPLASM	STAT6	PDGFRB	COL4A5	APC	NAB2	NOTCH3	COL4A6
HP_IMPAIRMENT_IN_PERSONALITY_FUNCTIONING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRMENT_IN_PERSONALITY_FUNCTIONING	PMS1	FGF8	MT-ND4	DEPDC5	ADGRV1	SDHB	ZIC2	NDUFA9	VPS37D	VCP	PHF21A	ADCY5	CUL4B	TREX1	EEF1A2	CDKL5	PLCH1	ZBTB20	VHL	SERPINA1	PRNP	TGIF1	GABRA5	C9orf72	TERT	SPG11	NODAL	DNMT3A	SETD2	NDUFS7	FMR1	PRPH	CDKN1B	DGUOK	PGAP1	PSEN1	DPYSL5	SIX3	ATXN8OS	CLCNKA	EPM2A	ARSG	SCN9A	FBXW11	NDUFA13	DNMT1	MSH2	PLA2G6	GP1BB	MYO7A	GNAS	FMO3	COX15	PPT1	TPH2	EIF2B5	NTRK2	MECP2	WAC	RPS6KA3	DYRK1A	SLC39A4	DLL1	NDUFA2	MAX	LARP7	POLG	PDGFB	KCNJ2	COQ2	TP63	CREBBP	CACNA1A	PGK1	CHMP2B	ERBB4	HLA-DQB1	USP8	YWHAG	KCTD17	MAPT	AMACR	GALC	CABP4	LEPR	TCF20	CLTC	DCTN1	FKBP6	HTR2A	FLII	UBE3A	KMT2A	CCND1	EIF2B4	CHD8	NTRK1	EDNRA	SOX5	RAI1	SLC11A1	GNB1	CDON	SMC1A	GLI2	PON3	GNRHR	USH1G	CDH2	USP48	SPEN	SDHA	GABRA2	MIF	SETD1B	SCN1B	ATP2A2	GNA11	HTT	MAN2B1	PPP1CB	IL1RAPL1	SLC1A3	RAD21	VPS35	DLAT	MT-ND5	FGFR1	SLC25A4	MSX1	TLR7	ABCC9	ARSA	PFN1	GABRB3	COMT	LAS1L	TOR1A	TBK1	SMARCB1	SCN3A	IGF1R	DNAJC13	ABCA7	ATP1A3	NR4A2	THOC2	TARDBP	SLC9A6	HTRA1	CACNA1G	SLC19A3	AOPEP	PDHA1	SLC25A11	EPAS1	SLC6A19	TMEM240	SLC26A9	WFS1	KIF1B	SPAST	TWNK	ATXN10	NDUFS8	SQSTM1	TBX1	SLC6A17	FGF14	MAPK8IP3	ALDH4A1	HCN1	PON1	BAZ1B	SEC24C	PCDH15	CCNF	KNL1	SORL1	FLI1	CTSF	PRKACA	FOXH1	BSND	EIF4H	SLC2A1	STAG2	SNCA	NKX2-1	CRH	SHH	ATP6V1A	CLN6	SLC13A5	PTS	MT-TF	CARS1	PDGFRB	DNAJC5	TREM2	PRR12	SDHC	TGFB1	ARV1	SPART	PARK7	GBA1	MAGEL2	AFF2	PDCD1	CHCHD10	FZR1	SYNJ1	BCORL1	SNRPN	GALT	DISP1	AIP	PHIP	BRD4	PPM1D	PODXL	CBS	NEK1	TYROBP	MT-TS2	GDAP2	STIL	PAH	SCN8A	ZNRF3	TSHB	PRKAR1A	GRN	ACSL4	CHD7	NECAP1	UNC13A	C19orf12	PRKAR1B	CSF1R	FGF13	METTL27	COASY	MBD5	SYNGAP1	DPH1	APP	GLA	MT-TH	CLCA4	DHDDS	ALG14	CPOX	WDR62	TP53	SLC18A2	PAK3	GABRG2	MTPAP	DNM1	GLUD2	DNA2	IRF4	UQCRC1	FGF12	FTL	IFNG	DGCR6	KRAS	CLCN4	GLE1	VPS13C	PIDD1	BCL11B	CLN5	VANGL1	BCL7B	GPR35	STEEP1	GCSH	CDH23	NCF1	COL7A1	MLH1	CRKL	DUSP6	FOXRED1	TBP	SLC45A1	PPP3CA	EIF2B1	SNORD118	TMCO1	CLN3	TTC19	SATB2	NHLRC1	GM2A	GABRB2	NECTIN1	MLXIPL	ATP1A2	CHRNA2	DEAF1	SDHD	MSTO1	MAPK1	PQBP1	CDKN2C	GSN	CIZ1	NDUFS2	DGCR2	PSEN2	KCNA2	GLDC	HMBS	NOVA2	LIPT1	PDCD6IP	PTCHD1	KPTN	HIRA	HSD17B10	FLT4	MT-CO1	PSAP	SETD5	SPRY4	MT-TL2	SMPD1	ARVCF	FOCAD	BRAF	SCN1A	UBQLN2	B4GALNT1	NR3C1	TDGF1	FRMD5	BUD23	SETBP1	TSC1	EPCAM	RPS20	WWOX	AP2S1	NEXMIF	CIB2	JRK	KCNN2	HMOX1	KCNB1	SCN2A	GRIK2	PMS2	SUGCT	MMP1	JPH3	RNF168	GAS1	PDE11A	SGCE	MLH3	KISS1R	CFTR	ABCB4	CYFIP2	NTNG2	CEP85L	ATP8B1	IDUA	JMJD1C	TK2	PTCH1	SURF1	ELP1	AFG3L2	MT-CO3	PDZD7	DNAJC6	HNRNPA1	NONO	TBCK	MT-ND1	WDR4	SMARCE1	SLC20A2	NSD2	CACNA2D1	CDK19	ATXN2	FUS	PRKN	STX1B	RRM2B	SPECC1L	CEP152	CASR	GLI3	MT-TL1	TBC1D7	LGI3	CLRN1	FH	ESPN	EIF2B3	SMO	TET3	EIF2AK1	MEN1	FKBP5	RREB1	ALDH5A1	ACTL6B	TAF1	WARS2	CEACAM6	GABRD	LRRK2	MT-TN	XPR1	HSPG2	NDUFA12	MED12L	HS6ST1	NDUFAF2	GRIN2A	ARMC5	LMNB1	NDP	PSMD12	AP1G1	YY1	FIG4	LGI1	TOMM40	BAP1	PON2	XK	GCLC	CNKSR2	FA2H	EHMT1	WDR11	UCHL1	APC2	MT-ND6	NDUFA10	NF2	HFE	RIMS2	FOXP1	AR	KCNT1	SETD1A	GATAD2B	IMPDH2	CLIP2	HDAC8	KANSL1	NDUFS3	TAF15	PLP1	MT-TQ	H1-4	RET	PDE2A	NDUFA4	PER2	TMEM147	CIC	SPTBN1	ADH1C	KMT2E	NAA20	CACNA1H	TMEM127	GNB2	ALAD	NR1H4	MDH2	PDE8B	KCNN4	PANK2	HTRA2	NDUFV1	CHD2	EIF2B2	NSD1	DGCR8	MAPK10	DDB1	STUB1	NSMF	SLC35C1	GIGYF2	TCF4	MSH6	PTPN22	NFIB	ATRX	AARS1	PPOX	TRAK1	SLC6A14	EIF4G1	BPTF	ELN	FTSJ1	HLA-DQA1	PET100	GNRH1	POLA1	FUZ	EP300	NOTCH3	HLA-DRB1	WHRN	PDE10A	TRAF7	PCDH19	PROK2	NTNG1	CHRNA7	OCA2	SOD1	IQSEC2	BMPR1A	ATP13A2	SEMA4A	NFASC	TBC1D2B	CEP78	RNF125	ATP7B	CDKN1A	DAO	RLIM	TLK2	OCRL	SLC6A4	FGF17	CELF2	HLA-B	NDUFS4	GPR101	P4HA2	POGZ	CEACAM3	RELN	NDUFAF5	STX1A	NFIX	GABRA1	EPHA4	AMT	DLST	PHGDH	NDUFV2	ADAT3	MATR3	CLCN3	HIVEP2	TNIK	CHRNA4	CACNA1B	FOXG1	PPARGC1A	SLC9A3	MT-TT	PRRT2	PPP2R2B	AP3B2	STX16	TRHR	MIR17HG	ADSL	RORA	FAN1	GTF2IRD1	PRKCG	KISS1	MAMLD1	BCS1L	VPS13A	PINK1	SNCAIP	CLTRN	CDKN2B	HEXB	MTFMT	ABCB11	PSAT1	CHRNB2	NAGS	SPG21	TRIP12	SLC38A3	GRIA1	GABBR2	UBTF	USH1C	CFAP410	AKT1	PURA	GRIN1	VPS16	SZT2	DDC	DCTN4	ARPC4	RFC2	MED12	PIK3CA	ZFYVE26	CLCNKB	TBL2	POLG2	NF1	TACR3	TUBB3	TAC3	GTF2I	ATP10A	EMC10	CUX2	ANXA11	GLT8D1	PARS2	NEFH	DNAJC30	ESS2	MAOA	CDC42BPB	NDUFS1	BCR	CISD2	VAPB	SRCAP	COQ5	ANG	CACNA1I	IRF6	H4C5	HARS1	TACO1	DALRD3	TMEM106B	SMC3	ASH1L	SLC7A6OS	GCH1	KIF15	SRPX2	SARDH	USP7	CTNNB1	HNRNPH2	GSTM3	OPTN	TGFBR2	MST1	CYP27A1	TANC2	NDUFAF6	SUFU	MT-CO2	KMT2B	GRIN2D	DRD2	NIPBL	TCF12	TSC2	GTF2IRD2	LIMK1	SLC2A3	CDKN2A	USH2A	TMEM270	SEMA4D	AARS2	SIN3A	ECHS1	UBA5	NUS1	PIGS	SLC1A2	ALG9	SHQ1	PROKR2	ADNP	MT-TW	HEPHL1	PER3	UFD1	ARID2	SDHAF2
HP_LOW_SELF_ESTEEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_SELF_ESTEEM	SLC2A1	GABRB3	JRK	TP63	IRF6	NECTIN1	GABRA1	GABRG2	CACNA1H	MSX1	FMO3
HP_STATUS_EPILEPTICUS_WITHOUT_PROMINENT_MOTOR_SYMPTOMS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STATUS_EPILEPTICUS_WITHOUT_PROMINENT_MOTOR_SYMPTOMS	SCN2A	SCN1A	SCN9A	MEN1	ODC1	GRIN2A	CHD2	HCN1	PCDH19	GABRG2	SCN1B	HNRNPU	GABRD	SLC1A2	CLN6	CDKN2C	GABRA1	ADORA2A	CDKN2B	STX1B	CDKN1B	ADGRV1	CDKN1A
HP_ABNORMAL_MITRAL_VALVE_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MITRAL_VALVE_PHYSIOLOGY	TBX20	ARSB	DZIP1	VPS37D	CTCF	HAAO	LDLRAP1	IL10	BGN	B3GALT6	CITED2	NF1	RIT1	GJA1	MYL2	PDSS1	FBN1	ALDH18A1	MAP3K7	TLR4	NDUFB11	DTNA	RPL3L	GNPTAB	FLNA	METTL27	ELN	XYLT1	STAT4	NDUFS2	GLA	COX7B	AIP	LTBP2	NDUFB8	HCCS	ZIC3	GTF2IRD1	G6PC3	GNS	NKAP	LZTR1	XYLT2	FBN2	MAPK1	PKD1	ADAMTS10	EXOSC5	SDHD	ERAP1	PRDM16	BCL7B	MLXIPL	SMAD3	MTX2	TLL1	MYH7	NCF1	TXNDC15	KIF20A	ALPK3	PRG4	IDUA	DCHS1	IFNGR1	ABCC6	NKX2-5	FKBP6	ACTC1	RFC2	TBL2	RPL5	TGFB3	SGO1	GTF2I	FHL1	SOX5	PIK3R2	AGA	SCO2	COL1A1	CLIP2	IL12A-AS1	ADAMTSL2	GATA4	LMNA	STX1A	MYPN	ZNF148	SKI	MAN2B1	PPP1CB	TNNI3	DNAJC30	FKBP14	GATA6	TLR7	COL5A2	HLA-B	VPS33A	GLB1	C4A	DSE	LDLR	PLD1	RAF1	IL12A	FBLN5	DOHH	IL23R	CBL	TNNT2	SMAD4	DNMT3A	MEFV	FLNC	POLG	SURF1	APOB	CHST3	AKT3	ZMPSTE24	NDUFAF3	BUD23	IL6ST	CRYAB	LOX	PYROXD1	IRX5	BAZ1B	GBA1	BANF1	ANKRD11	FAR1	NOTCH2	ABCG5	CHST14	UBE2A	MYH6	CCR1	CCND2	ABCG8	EIF4H	NOTCH1	GTF2IRD2	LIMK1	TPM1	MCTP2	SYT2	KLRC4	HADHB	TMEM270	TWNK	COL1A2	LMOD2	SLC22A5	CLIC2	HADHA	UBAC2	GPR101	COL5A1	HEPHL1	RPS6KA3	PCSK9	HEXB	RSPRY1	FAS	FHOD3
HP_CONTINUOUS_SPIKE_AND_WAVES_DURING_SLOW_SLEEP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONTINUOUS_SPIKE_AND_WAVES_DURING_SLOW_SLEEP	GRIN2A	TRIM8	CNKSR2	FRRS1L	SRPX2	KCNC2
HP_FOAMY_URINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOAMY_URINE	CD2AP	NUP93	PAX2	PLCE1	MYO1E	COQ8B	EMP2	NPHS2	ANLN	GAPVD1	ACTN4	NUP85	ARHGDIA	NUP160	MAGI2	TRPC6	PTPRO	INF2	APOL1	WT1	ANKFY1	NUP133	NUP205	NUP107	NPHS1	COL4A3	TBC1D8B	ARHGAP24	CRB2	NUP37	DAAM2
HP_ABNORMAL_CIRCULATING_T4_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_T4_CONCENTRATION	MAGEL2	TPO	LHX3	TRHR	SNRPN	ALMS1	POU1F1	TSHR	HESX1	IYD	TSHB	PAX8	DUOX2	SECISBP2	OCA2	LHX4	PROP1	KCNJ18	ALG8	NDN	TG	SLC5A5	DUOXA2	THRB
HP_ABNORMAL_CIRCULATING_THYROID_HORMONE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_THYROID_HORMONE_CONCENTRATION	CPE	MAGEL2	TBL1X	TPO	LHX3	TRHR	SNRPN	ALMS1	POU1F1	MADD	TSHR	FOCAD	HESX1	THRA	IYD	TSHB	PAX8	THRB	DIO1	DUOX2	SECISBP2	OCA2	LHX4	PROP1	KCNJ18	ALG8	NDN	USP9X	TG	SLC5A5	IRS4	DUOXA2
HP_KERATOACANTHOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KERATOACANTHOMA	PSENEN	ERCC4	POFUT1	POGLUT1	KRT5
HP_SUBRETINAL_FLUID	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBRETINAL_FLUID	CFH	LRP5	FZD4	CTNNB1	CFI	ZNF408	EFEMP1	NDP	TSPAN12	BEST1
HP_SUBRETINAL_DEPOSITS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBRETINAL_DEPOSITS	CYP4V2	CSPP1	C1QTNF5	KIAA0586	TIMP3
HP_INCREASED_THETA_FREQUENCY_ACTIVITY_IN_EEG	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_THETA_FREQUENCY_ACTIVITY_IN_EEG	KCNQ3	CHRNA2	CABP4	RPL10	CHRNB2	DEPDC5	KCNQ2	CHRNA4	KCNT1	SETD1B	CRH
HP_ABNORMAL_DERMOEPIDERMAL_JUNCTION_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DERMOEPIDERMAL_JUNCTION_MORPHOLOGY	ITGB4	PLEC	ZAP70	JUP	ITGA6	LAMA3	DST	COL17A1	LAMC2	LAMB3	DSP
HP_ABNORMALLY_LOW_T_CELL_RECEPTOR_EXCISION_CIRCLE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALLY_LOW_T_CELL_RECEPTOR_EXCISION_CIRCLE_LEVEL	IL2RG	FOXN1	RAC2	DCLRE1C	BCL11B	LCP2	RPA1
HP_CARDIAC_CONDUCTION_ABNORMALITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIAC_CONDUCTION_ABNORMALITY	MT-ND4	CDH2	TBX20	GJA1	LMNA	KCNJ5	PKP2	TMEM43	MYOZ2	CITED2	PEX7	CPT2	MT-ND1	PLEC	AKAP9	LDB3	MYPN	DTNA	EMD	SYNE2	MT-ND5	SLC25A20	GNB2	NDUFS2	GLA	MT-TH	MT-TL1	FHL1	ATP1A3	SCN5A	PSEN2	SCN1B	NDUFB8	SCN3B	TBX5	CNBP	ATP6V1E1	HLA-DRB1	GPX4	LEMD2	ACADVL	ACTC1	CACNB2	GYG1	EXOSC5	GNB5	GJA5	MYH7	TLL1	CREBBP	PRKAG2	TTR	RRM2B	MYL4	CACNA2D1	TRPM4	TNNI3K	PTPN11	KCNE5	NKX2-5	BVES	ACTN2	KCNE3	DES	MT-ND6	TNNT2	MT-ATP6	POMT2	SGO1	MYH6	RAF1	GPD1L	PRKG2	MMP14	ATP6V1A	SCNN1A	RNASEH1	RYR2	SCO2	ABCC9	MT-TS2	KCNJ2	GNAI2	MT-TQ	GATA4	MT-CYB	HCN4	PPP1CB	ACTA1	SLC1A3	PHYH	GATA6	MT-ND2	KCNK3	CALM1	JUP	TNNC1	DMPK	CDC45	DSG2	DYSF	MT-CO1	GRIN1	SDHB	PSEN1	SCN2B	DOHH	TTN	CTNNA3	SEMA3A	KCNJ18	CACNA1S	GPC3	SURF1	KCNQ1	NPPA	NDUFAF3	MYL2	MT-ATP8	MT-TV	MMP2	MT-TK	SLMAP	AGXT	SYNE1	KCNH2	ATP1A2	RMRP	SLC4A3	MYBPC3	BANF1	CASQ2	SCN10A	CALM2	RANGRF	CACNA1D	GPC4	LRP1	SDHAF1	CACNA1A	MT-CO2	SCN4B	KCND3	FLNC	SDHA	MT-TW	DEF6	MT-TF	BRAF	MT-ND3	PIGU	LMOD2	SDHD	SELENON	MT-CO3	KCNJ8	CALM3	BTNL2	CACNA1C	GABRA3	EP300	TRDN
HP_ABNORMAL_QT_INTERVAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_QT_INTERVAL	GNAS	KCNQ1	TANGO2	KCNJ5	CALM1	SLC12A3	DNAJC19	CAV3	CALM2	KCNH2	CACNA1C	ANK2	CDKN1B	KCNE1	MECP2	NOS1AP	STX16	CLCNKB	SCN10A	KCNJ18	CACNA1S	TNNT2	GPC3	CALM3	TECRL	HADH	KCNE2	ACADVL	CDKN2B	KCNJ2	KCNA5	DPAGT1	BPTF	SLC4A3	CACNB2	SVIL	GPC4	SLC6A8	SCN5A	HCN4	PSMD12	GMPPB	SCN4B	ALPK3	FLNC	AKAP9	TRPM4	TNNI3K	ALG10B	CDKN1A	MEN1	SNTA1	CDC73	TBX5	TRDN	PHOX2B	CDKN2C	RYR1	CACNA2D1	KCND3	CAVIN1	GABRA3	SRY
HP_ABNORMAL_AORTIC_VALVE_CUSP_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_AORTIC_VALVE_CUSP_MORPHOLOGY	GATA5	HNRNPK	DNAJC30	TAF2	PPM1D	VPS37D	IFT122	SPTBN1	FOXE3	FOXF1	B3GALT6	EDNRA	TNXB	SNIP1	MYLK	MYOCD	FBN1	SKIC3	CAPN15	NAA10	MYH11	TGFB2	FLNA	METTL27	ELN	ACTA2	DOHH	CREBBP	PACS1	H3-3A	SKIC2	CBL	RAC1	MAT2A	SMAD6	CHST3	GTF2IRD1	ZEB2	WAC	ROBO4	RAI1	BUD23	LOX	MMP2	NOTCH1	FBN2	SLC25A24	SMAD4	NFE2L2	BAZ1B	TGFB3	BCL7B	MLXIPL	ADAMTS19	NADSYN1	NOTCH3	GJA5	MYH7	KIF3B	NCF1	ACTB	SMC3	GATA6	SMAD3	KANSL1	EIF4H	RPL26	AGO2	TGFBR1	BCOR	ABCC9	GTF2IRD2	LIMK1	PPP2R5D	ARHGAP31	MCTP2	WT1	ADA2	FKBP6	MFAP5	GJA8	RFC2	TBL2	ZNF462	HEY2	TMEM270	THSD4	TAB2	PRKG1	BBS2	SGO1	SMAD2	GTF2I	OGT	MMP14	B3GAT3	PUF60	BCAS3	TGFBR2	CLIP2	CCNQ	NXN	FDFT1	YY1AP1	ARSK	DPF2	NKX2-5	STX1A	MAP3K7	EP300	SRY
HP_SUICIDAL_IDEATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUICIDAL_IDEATION	CHRNA2	CDH23	TP53	CABP4	CHRNB2	DEPDC5	CHRNA4	TMEM67	CRH	USP48	DCTN1	SLC2A3	SPTBN1	BRAF	CEP85L	CYP27A1	ATRX	HTT	DCDC2	KCNT1	USP8	FIG4	NR3C1
HP_ABNORMAL_PR_INTERVAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PR_INTERVAL	DOHH	TRPM4	TLL1	DSG2	CLCNKB	PRKAG2	SCN2B	GAA	GPD1L	SCN5A	KCNJ18	CACNA1S	NKX2-5	KCNA5	GNB5	MT-CYB	GABRA3	SLC12A3
HP_ABNORMAL_P_WAVE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_P_WAVE	SCN5A	GJA5	TLL1	NPPA	EMD	SCN3B
HP_ABNORMALITY_OF_FUNDUS_PIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FUNDUS_PIGMENTATION	MITF	GPR143	APC	TSC1	RBP3	EDNRB	MUTYH	AIPL1	KIF7	OCA2	GGCX	CRX	CNGA1	CLRN1	SLC25A15	SOX10	TYR	PAX3	CACNA1F	GUCA1A	SLC45A2	CHM	LAMB2	CAPN5	EFEMP1	IFNG	ARL6	LRAT	PRPH2	CFI	RHO	RDH5	MTTP	POU3F4	ROM1	MC1R	CFAP418	COL4A1	CFH	EPG5	GUCY2D	RLBP1	PDE6G	BLOC1S6	TSC2
HP_GEOGRAPHIC_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GEOGRAPHIC_ATROPHY	HMCN1	APOE	IMPDH1	NMNAT1	CFHR3	CFHR1
HP_MODERATE_MYOPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MODERATE_MYOPIA	FLNA	COL9A3	ASPH	H4C3	H4C5
HP_IMPAIRED_TANDEM_GAIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_TANDEM_GAIT	PLOD1	KCNN2	FMR1	ITPR1	JAG1	ATP6AP2	TBC1D24	SLC35C1	COQ5	MTRFR	PCDH15	GDAP1
HP_ABNORMAL_ATRIOVENTRICULAR_VALVE_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ATRIOVENTRICULAR_VALVE_PHYSIOLOGY	TBX20	ARSB	DZIP1	VPS37D	CTCF	HAAO	LDLRAP1	IL10	BGN	B3GALT6	CITED2	NF1	RIT1	GJA1	MYL2	PDSS1	FBN1	PRKAR1A	ALDH18A1	MAP3K7	TLR4	NDUFB11	ARL6	DTNA	RPL3L	GNPTAB	FLNA	METTL27	ELN	XYLT1	MEGF8	COX6B1	STAT4	NDUFS2	GLA	COX7B	AIP	LTBP2	NDUFB8	ATP6V1E1	HCCS	ZIC3	GTF2IRD1	G6PC3	GNS	NKAP	LZTR1	XYLT2	FBN2	MAPK1	PKD1	ADAMTS10	MYCN	EXOSC5	SDHD	ERAP1	DLL4	PRDM16	BCL7B	MLXIPL	SMAD3	ADAMTS19	MTX2	TLL1	MYH7	NCF1	TXNDC15	KIF20A	MYSM1	ALPK3	PRG4	IDUA	DCHS1	IFNGR1	ABCC6	NKX2-5	FNIP1	FKBP6	ACTC1	NCAPG2	RFC2	DVL3	TBL2	RPL5	TGFB3	RAD21	SGO1	GTF2I	TAB2	FHL1	SOX5	PIK3R2	AGA	SCO2	COL1A1	CLIP2	CDH2	ATRX	IL12A-AS1	ADAMTSL2	GATA4	LMNA	STX1A	MYPN	ZNF148	SKI	MAN2B1	PPP1CB	TNNI3	DNAJC30	FKBP14	GATA6	CSGALNACT1	TLR7	COL5A2	COA6	HLA-B	RPS19	VPS33A	GLB1	C4A	DSE	LDLR	PLD1	RAF1	IL12A	FBLN5	DOHH	IL23R	CBL	TNNT2	SMAD4	DNMT3A	MEFV	FLNC	POLG	SURF1	APOB	CHST3	TAFAZZIN	SCN5A	AKT3	ZMPSTE24	NDUFAF3	BUD23	IL6ST	NEK1	CRYAB	LOX	WDR37	PYROXD1	SLC25A24	IRX5	BAZ1B	GBA1	BANF1	ANKRD11	ATP6AP1	FAR1	NOTCH2	ABCG5	CHST14	UBE2A	MYH6	CCR1	DAXX	CCND2	ABCG8	EIF4H	TTC26	NOTCH1	GTF2IRD2	LIMK1	TPM1	MCTP2	SYT2	KLRC4	HADHB	TMEM270	TWNK	COL1A2	LMOD2	RNF2	SLC22A5	CLIC2	HADHA	NONO	UBAC2	GPR101	ALG9	COL5A1	HEPHL1	RPS6KA3	PCSK9	HEXB	RSPRY1	FAS	FHOD3
HP_ABNORMAL_TRICUSPID_VALVE_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TRICUSPID_VALVE_PHYSIOLOGY	DVL3	TBX20	ATP6AP1	FKBP14	ARSB	ADAMTS19	MYCN	MTX2	TLL1	GATA6	CSGALNACT1	MYH7	CHST14	TXNDC15	KIF20A	MYH6	CITED2	MYSM1	FLNA	FBN1	DAXX	ALPK3	TTC26	COA6	PRKAR1A	RPS19	VPS33A	NDUFB11	ARL6	NKX2-5	FNIP1	RPL3L	ACTC1	NCAPG2	PLD1	MEGF8	HADHB	COX6B1	DOHH	SDHD	LMOD2	RAD21	RNF2	TNNT2	COX7B	DNMT3A	CLIC2	TAB2	ATP6V1E1	HCCS	HADHA	NONO	FLNC	CHST3	COL1A2	TAFAZZIN	SCN5A	NEK1	ALG9	CDH2	WDR37	HEPHL1	SLC25A24	ATRX	ABCC6	ADAMTSL2	GATA4	EXOSC5	MYPN	DLL4	PPP1CB	TNNI3
HP_ABNORMAL_AORTIC_VALVE_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_AORTIC_VALVE_PHYSIOLOGY	TWIST1	PLXND1	GJA1	HLA-B	VPS37D	HAAO	FOXE3	LDLRAP1	IL10	PDSS1	TMTC3	LTBP2	ALDH18A1	GATA5	TLR4	WASHC5	RIGI	LTBP1	TGFB2	FBLN5	GNPTAB	FLNA	KRAS	METTL27	ELN	DPH1	ACTA2	STAT4	MAT2A	ARFGEF2	ATP6V1E1	IDUA	GTF2IRD1	FBN1	ZEB2	BUB1B	SHOC2	CEP57	MYH11	WT1	ADAMTS10	ERAP1	BCL7B	SLC2A10	MLXIPL	SMAD3	ADAMTS19	CREBBP	LOX	NCF1	TRIP13	VWF	CRKL	EFEMP2	TGFBR1	NEK8	IFNGR1	ARHGAP31	EHMT1	FKBP6	NPHP3	DYRK1A	NKX2-6	SMAD4	RFC2	TBL2	SKIC3	HEY2	TAB2	RRAS2	SMAD2	GTF2I	IFIH1	YY1AP1	ANKS6	CLIP2	EBP	FOXF1	MAPK1	ARF1	ARSK	IL12A-AS1	NKX2-5	ADAMTSL2	TGFBR2	LMNA	STX1A	HEATR3	MAN2B1	DNAJC30	PCGF2	BUB3	SPTBN1	NEDD4L	BCR	SNIP1	MYLK	COA6	GNPTG	GLB1	C4A	LDLR	IL12A	SPRED2	B4GALT7	DOHH	SKIC2	IL23R	CBL	SMAD6	MEFV	FGFR1	MAP1B	APOB	CHST3	ROBO4	ZMPSTE24	BUD23	GATA4	CYP24A1	NOTCH1	BAZ1B	GBA1	CCDC22	KIFBP	TGFB3	SCN1B	SON	GJA5	NOTCH2	ABCG5	CHST14	HCN4	ACTB	CCR1	FLI1	RMRP	BCOR	TAF2	ABCG8	EIF4H	TTC26	GTF2IRD2	LIMK1	TTR	C12orf57	MFAP5	GJA8	KLRC4	ERMARD	TMEM270	THSD4	COL1A2	LMOD2	PRKG1	CLIC2	NR2F2	SLC35A1	PUF60	UBAC2	CCNQ	PCSK9	D2HGDH	BUB1	AMER1	FAS	EP300
HP_ABNORMAL_HEART_VALVE_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEART_VALVE_PHYSIOLOGY	ARSB	GJA1	VPS37D	LRP4	CTCF	HAAO	FOXE3	CITED2	GPC4	RIT1	MYL2	PDSS1	FBN1	TMTC3	ZNF699	FKTN	NOTCH1	GATA5	TLR4	WASHC5	NDUFB11	RIGI	PTPN11	KRAS	TGFB2	GNPTAB	PGAP1	MEGF8	COX6B1	STN1	FBXW11	MAT2A	ARFGEF2	SOS2	NDUFB8	ATP6V1E1	ZIC3	IDUA	ZEB2	WAC	KAT6A	NKAP	BMP2	MYH11	WT1	PKD1	ADAMTS10	COL1A2	POLR3A	PRDM16	LZTR1	MLXIPL	MTX2	LOX	MYH7	TXNDC15	TRIP13	VWF	FLNA	PSMD12	AGO2	PRG4	TGFBR1	NEK8	NF1	GATA6	FNIP1	EHMT1	FKBP6	NPHP3	GATA4	ACTC1	NCAPG2	HRAS	DPP9	SKIC3	RPL5	HEY2	TAB2	SGO1	CDC42	RAF1	CHD7	SOX5	MAP3K7	SCO2	ANKS6	CLIP2	EBP	CDH2	FOXF1	KANSL1	ARF1	SFTPA1	ATRX	IL12A-AS1	NKX2-5	TGFBR2	LMNA	ABCA3	MYPN	ZNF148	MAP2K2	MAN2B1	PPP1CB	TNNI3	SPRED1	PCGF2	MYCN	BUB3	CIC	CSGALNACT1	SPTBN1	TLR7	ENPP1	COA6	HLA-B	DSE	IGFBP7	SPRED2	FBLN5	MUC5B	DOHH	CBL	TNNT2	SMAD4	DNMT3A	ATP11A	SMAD6	FGFR1	FLNC	MAP1B	POLG	SURF1	APOB	CHST3	CCDC32	SCN5A	AKT3	NDUFAF3	B3GLCT	CRYAB	WDR37	CYP24A1	ELN	BAZ1B	GBA1	BPTF	ZNF341	ANKRD11	CCDC22	DVL3	KIFBP	SCN1B	ATP6AP1	SFTPC	TRAF7	NOTCH2	KDM6A	ABCG5	ALDH18A1	ACTB	FLI1	DCHS1	SMAD3	DAXX	ABCG8	EIF4H	TPM1	TTR	MCTP2	C12orf57	MFAP5	DYRK1A	DSP	GJA8	KLRC4	ERMARD	BRAF	SLC29A3	TWNK	THSD4	SDHD	GDF1	PRKG1	SLC22A5	NR2F2	HADHA	NONO	PUF60	ADA	SMAD2	GPR101	COL5A1	PARN	CCNQ	RSPRY1	BUB1	AMER1	TBX20	TWIST1	PLXND1	DZIP1	TERC	SHOC2	PRDM5	LDLRAP1	IL10	BGN	B3GALT6	RTEL1	HIVEP2	LTBP2	PRKAR1A	ARL6	LTBP1	DTNA	RPL3L	METTL27	XYLT1	DPH1	ACTA2	STAT4	NDUFS2	GLA	COX7B	FAM13A	AIP	HCCS	GTF2IRD1	G6PC3	BUB1B	GNS	CEP57	ADK	LEMD2	XYLT2	RPL27	FBN2	MAPK1	EXOSC5	ERAP1	DLL4	FAT4	BCL7B	SLC2A10	ADAMTS19	TLL1	CREBBP	NCF1	KIF20A	MYSM1	CRKL	EFEMP2	ALPK3	MGP	IFNGR1	ABCC6	ARHGAP31	NKX2-6	ARPC4	RFC2	TBL2	TGFB3	RAD21	RRAS2	ZNF469	SOS1	GTF2I	FHL1	PIK3R2	IFIH1	TERT	YY1AP1	AGA	COL1A1	ACAD8	RNF135	DSG1	STRA6	ARSK	ADAMTSL2	STX1A	HEATR3	SKI	MRAS	DNAJC30	FKBP14	TBX2	DNAL1	NEDD4L	KCNH1	COL5A2	BCR	SNIP1	MYLK	WNT4	GNPTG	RPS19	RAB23	VPS33A	FLT4	GLB1	C4A	LDLR	PLD1	IL12A	NEK9	B4GALT7	SKIC2	IL23R	NRAS	SFTPA2	MEFV	ROBO4	TAFAZZIN	ZMPSTE24	BUD23	IL6ST	NEK1	SARDH	PYROXD1	SLC25A24	IRX5	BANF1	MAP2K1	FAR1	SON	GJA5	CHST14	UBE2A	HCN4	MYH6	CCR1	SMC3	RMRP	BCOR	TAF2	CCND2	TTC26	GTF2IRD2	NRXN1	LIMK1	SYT2	GPC3	HADHB	COL3A1	TMEM270	LMOD2	RNF2	CLIC2	SLC35A1	OTUD5	UBAC2	CIROP	CUL3	ALG9	HEPHL1	RPS6KA3	PCSK9	HEXB	D2HGDH	TBCK	FAS	INVS	FHOD3	EP300
HP_ABNORMAL_PULMONARY_VALVE_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PULMONARY_VALVE_PHYSIOLOGY	PLXND1	ARSB	VPS37D	LRP4	TERC	SHOC2	PRDM5	NF1	RTEL1	GPC4	RIT1	HIVEP2	ZNF699	GDF1	FKTN	NOTCH1	LTBP2	WASHC5	PTPN11	KRAS	FLNA	METTL27	PGAP1	ELN	STN1	FBXW11	NDUFS2	FAM13A	SOS2	NDUFB8	ZIC3	GTF2IRD1	G6PC3	ZEB2	WAC	KAT6A	BMP2	ADK	LZTR1	LEMD2	RPL27	MAP2K2	ADAMTS10	COL1A2	FAT4	PPP1CB	POLR3A	BCL7B	MLXIPL	SMAD3	ADAMTS19	CREBBP	NCF1	PSMD12	AGO2	NEK8	MGP	ARHGAP31	GATA6	FKBP6	NKX2-6	GATA4	ARPC4	HRAS	DPP9	RFC2	NOTCH2	EFEMP2	TBL2	SKIC3	RAD21	KIF20A	SGO1	ZNF469	CDC42	SOS1	RAF1	GTF2I	CHD7	TAB2	TERT	SCO2	ANKS6	ACAD8	CLIP2	KANSL1	RNF135	DSG1	STRA6	SFTPA1	STX1A	ABCA3	FBN1	MRAS	SPRED1	DNAJC30	TBX2	DNAL1	CIC	KCNH1	FOXF1	ENPP1	WNT4	RAB23	FLT4	BRAF	PLD1	IGFBP7	SPRED2	MUC5B	NEK9	B4GALT7	NRAS	SFTPA2	ATP11A	SURF1	CHST3	CCDC32	NDUFAF3	BUD23	B3GLCT	SARDH	CYP24A1	BAZ1B	BPTF	ZNF341	MAP2K1	CCDC22	GNPTAB	SFTPC	TRAF7	KDM6A	SMC3	DCHS1	BCOR	EIF4H	GTF2IRD2	NRXN1	LIMK1	DSP	GPC3	SLC29A3	COL1A1	COL3A1	TMEM270	OTUD5	CIROP	ADA	SMAD2	CUL3	PARN	TBCK	BUB1B	INVS	MAP3K7	EP300
HP_ABNORMAL_HEART_SOUND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEART_SOUND	GATA5	TBX20	TWIST1	SDHD	SMAD9	GJA1	MYH7	ADAMTS19	TLL1	GATA6	CWC27	CIC	ABCG5	SPTBN1	SMAD6	FOCAD	SMARCA2	LDLRAP1	MYH6	CITED2	IDS	APOB	FBN1	ABCG8	PRKAR1A	SLC25A4	BMPR2	FIG4	GAA	BICRA	NKX2-5	RBBP8	GNPTAB	NOTCH1	PCSK9	ACTC1	LDLR	GATA4	DDX6	TMEM260
HP_SYSTOLIC_HEART_MURMUR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYSTOLIC_HEART_MURMUR	TBX20	TWIST1	GJA1	TLL1	ADAMTS19	GATA6	NKX2-5	FOCAD	ACTC1	MYH6	CITED2	GATA4	TMEM260
HP_POLYMORPHIC_VENTRICULAR_TACHYCARDIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYMORPHIC_VENTRICULAR_TACHYCARDIA	CALM2	KCNJ5	KCNJ2	TECRL	TRDN	CASQ2
HP_ABNORMAL_STOOL_COMPOSITION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_STOOL_COMPOSITION	GATA1	BRCA2	PTPN3	PERCC1	HFE	ALAD	UROS	DCDC2	HSD3B7	RFX6	EPCAM	DEF6	CYP7B1	CPOX	SLC10A2	SLC26A3	PPOX	BRCA1	UROD	SLC9A3	MYO5B
HP_MEGAKARYOCYTE_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEGAKARYOCYTE_DYSPLASIA	SAMD9	RFWD3	MYSM1	MYH9	UBA1
HP_OPPORTUNISTIC_INFECTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPPORTUNISTIC_INFECTION	IGKC	PNP	GSTM3	CD40LG	STAT1	CFTR	IKBKG	HFE	IL12RB1	TGFB1	CLCA4	EDNRA	IL2RG	MBL2	IL17RC	SLC11A1	CYBB	SERPINA1	IL21R	SLC26A9	DCLRE1C	ADA	ELANE	RAG1	NHP2	GCLC	RAG2	MPEG1	CARD11	PIK3CD	CEACAM3	CEACAM6	STX1A	TLR8	SLC9A3	SLC6A14	KCNN4	ZNFX1	MIF	DCTN4	IL7R	ZAP70	IGHG2	HMOX1	ZNF341	JAK3
HP_SEVERE_VIRAL_INFECTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_VIRAL_INFECTION	PIK3R1	REL	IKBKG	IL2RA	CTPS1	CD27	TLR7	IL2RB	RAC2	LAT	SASH3	TGFB1	STAT2	DOCK2	PGM3	FCGR3A	DEF6	TPP2	XIAP	SH2D1A	MCM10	ADORA2A	ZNFX1	BLM	DNASE2	IRF7	CD70	MAGT1
HP_SEVERE_CYTOMEGALOVIRUS_INFECTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_CYTOMEGALOVIRUS_INFECTION	MCM10	PIK3R1	IL2RB	REL	IKBKG	LAT	DEF6	TPP2	MAGT1
HP_COMPENSATORY_HEAD_POSTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMPENSATORY_HEAD_POSTURE	CABP4	NYX	CACNA2D4	ZFHX4	RHO	SAG	GPR179	PDE6B	LRIT3	CACNA1F	TRPM1	KIF21A	TUBB3	GRM6	GRK1	COL25A1	SLC24A1	GNAT1	GNB3
HP_ABNORMAL_ASCENDING_AORTA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ASCENDING_AORTA_MORPHOLOGY	GATA5	HEY2	MYLK	THSD4	TGFB3	EMILIN1	PRKG1	LOX	SMAD2	MAT2A	SMAD6	FOXE3	MFAP5	FBN1	SMAD3	TGFBR2	TGFBR1	GNB2	COL3A1	MYH11	TGFB2	NOTCH1	ELN	ACTA2	SMAD4	NKX2-5
HP_RECURRENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT	PTH	ADORA2A	SMC1A	DBT	BCKDHB	BCKDHA
HP_ABNORMAL_BASOPHIL_COUNT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BASOPHIL_COUNT	BACH2	SRSF2	TET2	ASXL1	KIT
HP_ABNORMAL_ORAL_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ORAL_PHYSIOLOGY	UBE3A	CHRM3	PRPS1	F13A1	MAP3K20	MATR3	IRF2BP2	PAX9	SPART	NEK1	LMNB2	FIP1L1	SCNN1G	IDS	GPT2	SNRPN	HIVEP2	WNT10B	CHRNA1	TBK1	UNC13A	RACGAP1	ATXN2	FUS	FOXG1	MEG3	F13B	FBXO28	EXTL3	F8	MT-CO3	PPARGC1A	PRPH	MBD5	GABBR2	SATB1	MAGEL2	SLC12A2	STAT5B	SCN9A	SH3TC2	HLA-DRB1	PDE10A	MECP2	PAK3	GNS	SHMT2	ATP7B	PI4KA	TREM2	ALS2	SMARCA2	PMP22	GABRG2	EDARADD	VPS13A	DLAT	GLE1	SYNGAP1	GRIN1	HOXB1	PRKAR1A	GFM2	ELOVL1	ZEB2	SATB2	GRIN2A	ERBB4	TP63	HLA-B	FGFR3	MSX1	CLDN10	LAMA2	POLR3B	POU3F3	LRP6	PCDH19	PON2	CFAP410	ZC4H2	FGF10	SERPING1	SRPX2	FARS2	PPP2R5D	NALCN	MYL2	CHCHD10	SCNN1A	TH	SCNN1B	IKZF1	HDAC4	AXIN2	KIF23	TPM2	SERPINE1	MED27	SLC1A4	NECTIN1	F2	PYGM	F5	TUBB3	ATP10A	ANXA11	ATP6AP2	GLT8D1	RARA	EIF2S3	MED12	SLC25A12	GNAI3	QDPR	PON3	HACD1	NEFH	MRE11	BCOR	TAF15	TUBB2B	SPEN	GSN	TGFA	SLC12A5	SLC9A6	SCN1B	CHMP2B	VAC14	ZBTB11	PML	NOD2	PCGF2	TANGO2	ADGRG1	SPTBN1	SELENBP1	CAMTA1	ATP1A3	KIF7	CCN2	NAA20	VAPB	NABP1	PFN1	COLQ	ZBTB16	ANG	SLC39A14	AP4B1	CACNA1I	WAS	AP4E1	FIG4	POLR3A	CHAMP1	H4C5	CAV1	FGFR1	AP4M1	DLK1	TASP1	TARDBP	VCP	CCR6	NPM1	STAT3	DNM1L	LPIN1	SCN1A	UBQLN2	FGFR2	SETD5	LBR	HERC1	IRF5	KIF15	PTPN22	NFIX	ATRX	PTS	SQSTM1	SELENON	TBX1	CERT1	PYROXD1	NEXMIF	PON1	HNRNPH2	MTRFR	RSRC1	SCN2A	OPTN	CLDN11	GRIK2	ADSS1	CCNF	SUMO1	LAMB2	SLC16A2	TPM3	STRADA	DCTN1	FBLN1	KANSL1	KCNC2	OCA2	SOD1	GCH1	NRXN1	HPDL	RTL1	IRF6	ITGA7	ARX	DAO	EDA	CFTR	MAT1A	ACTA1	NTNG2	TSPOAP1	FOXP1	F10	FOXP2	DEAF1	AP4S1	NUMA1	P4HA2	C9orf72	WNT10A	BCORL1	HNRNPA1	ADNP	NONO	SIM1	TBL1XR1	GABRA1	PLA2G6	NAXD	EPHA4	MT-CO1
HP_DECREASED_CIRCULATING_PARATHYROID_HORMONE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_PARATHYROID_HORMONE_LEVEL	PTH	CASR	GCM2	TBCE	SLC34A3	AIRE	TBX1	SLC34A1
HP_ABNORMAL_WAIST_TO_HIP_RATIO	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_WAIST_TO_HIP_RATIO	PAX4	PTPN1	IGF2BP2	GCK	IRS2	PDX1	RETN	PPP1R3A	GPD2	MAPK8IP1	IL6	HNF1B	KCNJ11	HMGA1	NEUROD1	HNF1A	IRS1	MTNR1B	AKT2	WFS1	LIPC	PPARG	SLC30A8	TCF7L2	HNF4A	SLC2A2	ENPP1	ABCC8
HP_ABNORMAL_REFLEX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_REFLEX	NDUFA9	SPG7	CACNA1E	VPS37D	ADCY5	PI4KA	HSPB1	PRPF4	NEFH	MFN2	SLC2A1	GABRA5	GBF1	KCNJ6	CYP2U1	NEFL	SPG11	TPM2	RTN2	ALDH18A1	RYR1	FMR1	FKRP	PGAP1	SLC7A14	PCARE	SLC25A4	NKX6-2	PEX10	DNMT1	SH3TC2	MORC2	SLC39A8	CNBP	MSTN	KLC2	DBH	MECP2	BSCL2	DYSF	DHH	TPP1	NDUFA2	UBA1	ANKLE2	PRPS1	KRAS	NRCAM	TPO	CPT1A	BRCA2	POMT1	REEP1	ERCC5	EXOSC9	ARL3	CHMP2B	PIGN	RUSC2	MECR	WARS2	YWHAG	FDX2	PMP22	ERCC8	GLRX5	PGM3	ATP6AP2	GNAS	MYL2	FKBP6	CRB1	FLII	MGME1	WARS1	KATNB1	TRIM2	MT-ND6	TUBGCP2	ITPR1	ABHD5	HSPG2	POMGNT1	KDM5C	ANO10	MT-ATP6	PEX3	CHKA	FBXO7	PIK3R5	DYM	KLHL41	DDHD2	CYP7B1	RAI1	TDP1	GNB1	POU4F1	PEX2	CLP1	POMGNT2	ASNS	NOP56	BICD2	TRRAP	SCYL2	GABRA2	IL12A-AS1	NR2E3	SLC1A3	EXOSC3	SOX10	SMN1	TANGO2	SEPSECS	OPA3	NGLY1	TULP1	MYH7	ABCC9	ATP7A	SNRNP200	VAMP1	TTPA	PLA2G6	TOR1A	SCN3A	COX20	TMEM63C	HDAC4	DDB2	FUCA1	SEMA4A	ALG11	ARSA	PDE6A	ERCC2	TSEN2	ALS2	TBK1	SLC25A1	SEMA6B	HTRA1	CACNA1G	KCNJ18	KIAA0586	TREX1	SLC6A19	USH2A	HSPB3	APOE	SPEG	GJC2	NR4A2	CLCNKA	NDUFS8	SELENON	HSPB8	ATXN1	HEXB	PSEN1	MT-TE	ALDH4A1	HCN1	SQSTM1	BIN1	DCC	PDK3	ATP8A2	BCAT2	RPGRIP1L	UBAP1	DARS2	IMPDH1	PIEZO2	MAN2B1	PIGG	CTSF	CRAT	SLC19A3	EIF4H	SNCA	ARSI	NAGLU	AUH	PTS	ITGA7	PIGO	AHI1	FLNC	PITRM1	MAT1A	PPP2R2B	SDHD	AP4E1	ARV1	SPART	PARK7	AMPD2	HADHA	PEX1	DUOX2	LMNA	PDE6B	ACD	STUB1	VPS13C	MCM3AP	FZR1	SYNJ1	IFT140	SYNE1	PTF1A	MAK	FKTN	LYRM7	GRM1	ETHE1	XRCC1	KCNA1	FXR1	UBE3A	CERKL	SLC33A1	NDUFS7	HACD1	GDAP2	GLRB	WDR4	HPDL	SCN8A	TMEM43	SACS	IL10	ACSL4	MEGF10	NECAP1	C19orf12	TRAPPC10	EGR2	EMD	OCRL	SETX	METTL27	ATP1A3	INPP5E	MT-ND5	CNTNAP1	SYNGAP1	TSHR	AGRN	AIFM1	AP4B1	COQ2	NDUFS4	WDR62	PRDM12	POLR3B	SHMT2	NARS1	MTPAP	PAX1	ARX	FGF12	PRPF3	RBP3	SLC5A7	SPTLC2	PMM2	CNP	SNX14	GRIA3	UQCRQ	VPS37A	CHMP1A	GMPPB	TICAM1	RNF170	PCYT2	MPZ	IFT172	GFAP	ABCA4	GCSH	NOTCH2NLC	NCF1	DYNC1H1	SLC52A3	SBF1	PPP1R15B	ABCD1	DNM2	RP9	FOXRED1	SLC6A9	IFNGR1	SAMD9L	FUS	KIDINS220	TRAPPC6B	TFG	TMCO1	PEX13	RUBCN	LITAF	TTC19	GM2A	FANCI	BRAT1	MLXIPL	TAOK1	TOE1	UGP2	PEX11B	PQBP1	KIF1A	TIMM50	GBA1	HNRNPK	NDUFS2	ERCC3	KCNA2	NEB	PTRH2	SCO2	CNGA1	ALG2	SNRPN	ERLIN2	LRP4	COLQ	SLC18A3	NDRG1	ZFYVE26	VCP	GLRA1	ADCY6	C4A	SLC1A4	GNB4	ELP2	TARDBP	CHRNB1	MAG	GRID2	IL23R	PNPT1	MT-TL2	MED17	HARS1	AP1S2	NUBPL	FANCF	BBS1	CARS1	RRM2B	NFIX	ASPA	GNE	GAN	WWOX	ARL2BP	GFER	UFC1	DPAGT1	DCAF8	KCNB1	PARS2	GALC	MKS1	GJB1	MYOT	RNF113A	LAMB2	LIFR	JPH3	TPM3	FANCM	NSD1	TUBB2B	ARL6IP1	EYA1	MT-TW	TYMP	PEX26	PIGW	PRPH	PIGA	HYCC1	CASK	TTR	MATR3	OCLN	MFF	JAM3	RNF2	EMC1	BEAN1	PRRT2	CYFIP2	TSPOAP1	POLG	RNASEH1	FANCE	GAD1	TK2	AP4S1	JAG1	ADPRS	ELP1	AFG3L2	KIF1B	LARGE1	PRDM8	RPGR	PNKP	CHCHD2	STIM1	IGHMBP2	COX5A	FSCN2	FHL1	SLC20A2	FANCB	HSPD1	HTT	PC	SASS6	DEAF1	DNM1	UGDH	KCNT1	GPT2	CACNA2D1	DNAJC3	EXTL3	COQ8A	PLOD1	PRKN	PEX5	DDHD1	SLC25A15	MAGEL2	TRIM8	PLEKHG5	EYS	TUBA8	ISCA2	ATP13A2	CWF19L1	CAMTA1	GJA1	ALG3	BBS2	ACTL6B	TAF1	POMT2	MT-TN	DPM1	NDUFA12	CHRND	KBTBD13	KPNA3	PMPCA	GRN	ACTA1	LMNB1	DST	NDP	IYD	NSUN2	CLRN1	SCYL1	AGBL5	RAD51C	LDB3	XPC	PEX12	CENPJ	HNRNPDL	FANCA	MME	MYPN	TTC8	FRMPD4	GAMT	CHCHD10	NDUFS3	NCAPD3	ZC4H2	CTDP1	CC2D2A	ERCC6	PLP1	ZNHIT3	CIT	PEX16	ATAD1	NDUFA4	MYH14	TAF13	MYL1	SPTBN1	GDAP1	ADSS1	SLC38A3	SLC16A2	DES	GARS1	SPTBN4	MPV17	PRUNE1	LYST	ISCU	CCDC88C	HLA-B	FA2H	KLHL9	SLC6A5	UROC1	ATL3	ARHGEF2	CLPB	HTRA2	NDUFV1	ABCB7	CRYAB	VPS13D	PSAP	CHAT	MARS2	CDK6	COG4	WDR81	FXN	LPIN1	PNPLA2	SMN2	MTRFR	PANK2	MT-TV	PIGT	INF2	AARS1	PPOX	PLEKHG4	TRAK1	RP1L1	RLBP1	ATP1A2	MTM1	ELN	ERCC1	DNAJC6	ATL1	FUZ	EP300	TMEM67	B4GAT1	APTX	WASHC5	CHRNE	MARS1	NAA10	DGUOK	MDH2	ERCC4	ERBB3	KIF5A	NFASC	TGM6	DHTKD1	EXOSC1	COX8A	SPTBN2	EXOSC8	PDXK	TMX2	AMPD1	TREM2	B4GALNT1	CELF2	SIGMAR1	ACOX1	UNC93B1	AMT	HPRT1	HIKESHI	NDUFV2	RFC1	GLYCTK	COG5	VRK1	SLC44A1	PRKCG	FBLN5	MCM7	TTN	TRIP4	TUB	SMG9	KCNC3	AP3B2	STX16	CNKSR2	ACO2	BAG3	SPR	NDE1	PODXL	BSND	AARS2	DKK1	KCNQ2	ASAH1	VPS13A	PINK1	CLTRN	ABCC8	SAR1B	GBA2	ACADM	KIAA1549	PSAT1	TECPR2	ELOVL1	RARS2	SEC31A	SPG21	GTPBP2	CHRNA1	NEK2	PSMB8	IBA57	MPLKIP	TBCD	GRIN1	DDC	VWA3B	PYCR2	FLVCR1	TRPV4	TUBB3	MT-ND4	GTF2I	CNTN1	DOK7	CDHR1	GPAA1	PROP1	SLC25A12	PLAA	NTRK2	MYO9A	TRAPPC11	VAC14	TWNK	LRAT	IFT88	MT-ND2	ADGRG1	GFPT1	IER3IP1	COQ5	CNGB1	SNIP1	TRIM32	TLR3	CAV1	RNF220	TACO1	TSEN15	DALRD3	XPA	AP4M1	TARS1	CFAP418	ERLIN1	IRF2BPL	EIF2AK2	GIPC1	DNM1L	RFT1	ATXN10	TMEM106B	ATXN7	GABRG2	TNR	MBOAT7	PKDCC	ABAT	NDUFS1	PEX14	SURF1	CYP27A1	REEP2	CADM3	GRIN2D	GBE1	PLXNA1	COG7	CACNA1A	GTF2IRD2	LIMK1	MSL3	RHO	LMOD3	MT-TL1	RAPSN	TMEM270	SCN4A	SMPD1	MRPS34	KCNK9	MAPT	WLS	EMILIN1	METTL5	GABBR2	L1CAM	SLC35A1	SCN9A	AIMP2	POLG2	PRKRA	ALG14	UBA5	UBAC2	ORAI1	SEPTIN9	TTBK2	MT-CO1	PIGL	PDE8B	GABRA3	VPS11	POU1F1	RGR	MTMR14	IDH3A	EEF1A2	LRP12	PDSS1	PDYN	MT-ND1	FARS2	PIGY	OPA1	GNPTAB	NIPA1	ATXN8OS	MFSD2A	SPTLC1	PCDH12	NDUFA13	AAAS	SLC25A46	COX15	LETM1	PUS3	ZEB2	KCNQ3	CFL2	TINF2	DAG1	SLC25A21	VPS33A	NAGA	PALB2	TRAPPC14	MUSK	CREBBP	GEMIN5	HK1	CPT1C	GLE1	RP2	AMACR	ERGIC1	TSEN54	PPP2R5D	DCTN1	SOD1	C9orf72	MCCC1	LBR	DMD	PRX	COL12A1	LHX3	TRIO	MAD2L2	ENTPD1	COL4A1	MCOLN1	TCTN2	ABHD12	EIF2S3	BCAS3	GOSR2	PET117	PRDM13	MINPP1	BRIP1	MRE11	PNPLA6	PEX6	CLCNKB	CRPPA	STAC3	COA7	DLAT	LAMA2	NUP214	DHX16	PIGB	SRPX2	ELOVL4	IREB2	DHX30	AGTPBP1	MYO1H	COX10	FLI1	FASTKD2	NRL	PDHA1	TMEM240	SPAST	MCPH1	TRMT10A	CCT5	DSTYK	BAZ1B	PARN	MRPS25	BEST1	NRAS	JAM2	SLC52A2	MICU1	SDHAF1	PRPF8	ATP6V1A	SLC25A19	POLR3A	SPTAN1	FGF13	SCN1A	SLC13A5	KLRC4	PDGFRB	KIZ	PRICKLE1	PRR12	RNASEH2C	TOPORS	ATXN2	SYT2	GRM7	ASCC1	CEP63	SLC1A2	SIM1	FANCC	DNASE1L3	MED25	PAH	KCNK4	ATP5MK	FAM161A	TSHB	CARS2	QRICH1	GUCA1B	RAB18	CSF1R	TIMM8A	SLC12A6	COASY	PITX3	STAT4	CDK5	DHDDS	FBXO38	PAK3	ADAR	RAB7A	OSTM1	FTL	PDE6G	GTF2H5	RETREG1	CLN5	EXOSC5	ERAP1	VANGL1	BCL7B	SLC46A1	PPP1R21	GPHN	KY	PEX19	ZFYVE27	DOCK3	AP5Z1	MT-TK	PPP3CA	OFD1	GFM1	WDR73	PROM1	COPB2	PAX7	GABRB2	LYRM4	CCDC88A	GLB1	VAPB	NEU1	MSTO1	XRCC2	TAF2	TBC1D24	GLDC	RARS1	GAA	ST3GAL5	LIPT1	KIF1C	DTYMK	RILPL1	RAB3GAP1	ACER3	SLC29A3	ATP1A1	SDHB	COQ9	ABCA1	B3GALNT2	NSRP1	PRCD	YARS1	KCND3	MEFV	ALG9	SLC35C1	BUD23	IFRD1	MT-ATP8	POU3F4	SNAP25	PGAP2	SELENOI	SNAP29	PYROXD1	ATG5	TMEM63A	PRNP	CLTC	FIG4	SAG	CLDN11	FAR1	GCLC	POMK	MICOS13	HESX1	LGI4	GCH1	HINT1	SDHA	HGSNAT	DYNC1I2	APOB	ATP11A	TBCK	MT-ND3	EXOC8	CD59	TCAP	CD40LG	CAPN1	NT5C2	FANCG	TYROBP	TRIM37	SUCLA2	ACAT1	ZSWIM6	KCNA4	AHR	PCLO	SZT2	IARS2	AASS	EEF2	VLDLR	STIL	PRSS12	UBE2T	FBN1	PHC1	CDK19	TLR4	FBXO28	PRPF31	DPYD	NARS2	SUCLG1	ATN1	DPM2	PDHB	ST3GAL3	LGI3	KIF14	HMGCL	TBC1D23	ALG6	REEP6	RTEL1	ALDH5A1	GFM2	FLRT1	NDUFAF2	IMPG1	FGD4	PDGFB	XK	GMPPA	RMND1	QARS1	DUOXA2	UCHL1	GTF2E2	PRPH2	DEGS1	JPH1	NDUFA10	RPE65	GRIN2A	OTOG	PHYH	INPP5K	NALCN	MTTP	ATP6V1B2	IMPDH2	CLIP2	USP8	LRSAM1	VWA1	KARS1	RFWD3	RXYLT1	SLC25A22	SPATA7	NAA20	GNB2	ARHGEF18	TG	FKBP10	BRCA1	MYORG	TBC1D20	ROM1	TRAF3	TSEN34	ATRX	CA4	ZNF513	CDK5RAP2	RMRP	PET100	SLC18A2	ASPM	ATM	KLHL7	PLCB1	SIL1	OCA2	HUWE1	HRAS	LRRK1	COL25A1	SET	CEP135	COL13A1	RLIM	GNAQ	MERTK	ATXN3	LRRK2	CRX	NONO	COX6A1	DNAJB2	NDUFAF5	NDUFAF3	TBX4	SHANK3	SLC5A6	TRMU	HSD17B4	MAP3K20	RP1	MCCC2	CACNA1B	DPM3	PRPF6	PLEC	MT-CO3	SCAPER	PPIL1	SYNE2	PIGV	PMP2	AR	RDH12	SLC12A2	IMPG2	PSMC1	ADSL	GTF2IRD1	GNS	KDM1A	NUP62	SUMF1	BCS1L	AK9	MTFMT	SBF2	GLUL	NEK1	CNTNAP2	NDUFAF4	KNL1	IQSEC2	SLC39A14	TH	RFC2	FANCD2	DKC1	MT-TT	TBL2	GEMIN4	SIK1	ISCA1	NDUFA1	ARL6	PRORP	STX1A	AUTS2	DARS1	DNAJC30	LHX4	DENND5A	H4C5	TRMT5	IL12A	ZFR	PEX7	TPI1	TERT	CACNA1S	CDC40	SLC5A5	ZNF408	RAB3GAP2	WNK1	NDUFAF6	CCR1	MYF6	SLX4	CA8	CTNNA2	ALG1	FANCL	PGAP3	SLC2A3	CEP152	ANXA11	CHP1	HIBCH	IDH3B	ATP5MC3	DHX38	HADHB	PIGP	ABHD16A	MAB21L1	ECHS1	COX4I1	NUS1	TSPYL1	RAD51	FAS
HP_DECREASED_SERUM_ZINC	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SERUM_ZINC	SLC39A4	COL7A1	MMP1	SLC30A2	IARS1
HP_AORTOPULMONARY_COLLATERAL_ARTERIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AORTOPULMONARY_COLLATERAL_ARTERIES	GDF1	ALDH1A2	YY1	FLT4	PKD1L1
HP_LYMPHANGIECTASIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LYMPHANGIECTASIS	FAT4	SOX18	FOXF1	PIEZO1	HRAS	CCBE1	ADAMTS3	MPI
HP_BRADYPHRENIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRADYPHRENIA	HTT	DMPK	VPS13A	NOTCH3	CLTC	SLC2A3
HP_ABNORMAL_LIBIDO	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LIBIDO	TP53	GNRH1	HS6ST1	PRKAR1A	PDE11A	MEN1	CDH23	TACR3	FGF17	ARMC5	TAC3	BRAF	ATRX	PRKACA	HTT	NSMF	USP8	PROK2	CHD7	NR3C1	DUSP6	AIP	GNRHR	KISS1	PDE8B	GNAS	PROKR2	USP48	SLC2A3	CDKN2C	ABCD1	CDKN2B	FGF8	WDR11	CDKN1B	FSHB	FGFR1	CDKN1A	KISS1R	SPRY4
HP_ABNORMAL_HEMATOCRIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEMATOCRIT	HBB	HSCB	HBA2	EPO	JAK2	EPAS1	BPGM	HBA1	KLF1	SH2B3	EGLN1	VHL
HP_ISOMERISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ISOMERISM	SMAD2	FANCB	CFC1	GDF1	ZIC3	DNAH9	NODAL	CIROP
HP_INEFFECTIVE_ESOPHAGEAL_PERISTALSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INEFFECTIVE_ESOPHAGEAL_PERISTALSIS	TRAPPC11	SAMD9	COL4A5	ACTB	IVNS1ABP	GMPPA	IARS2	GLA	AAAS	GUCY1A1	MEIS2	PHOX2B	FLVCR1	MYO1H	MYH11	STAT3	COL4A6
HP_ABNORMAL_HEART_RATE_VARIABILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEART_RATE_VARIABILITY	DISP1	SHH	FOXH1	FGFR1	ZIC2	FGF8	TDGF1	STIL	PLCH1	DLL1	GAS1	PTCH1	TGIF1	GALC	NODAL	GLI2	CDON	STAG2	SMC1A	SIX3	MADD	CACNA1D	PSAP	PHOX2B
HP_BLOODSTREAM_INFECTIOUS_AGENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLOODSTREAM_INFECTIOUS_AGENT	ELANE	PIK3R1	IKZF3	REL	PRKCD	PGM3	DEF6	ITK	TPP2	CTPS1	CD27	IL2RB	LAT	TET2	TOM1	MAGT1
HP_ABNORMAL_LIVER_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LIVER_PHYSIOLOGY	ABCB11	ATP8B1	HSD3B7	ABCB4	TMPRSS6	ALMS1	CYP7B1	AP1B1	FOCAD	AP1S1	PGM1	ZFYVE19	TJP2	SLC51A	AKR1D1	ASAH1	AMACR	PKHD1	SC5D	SLC25A13	VPS50
HP_RECURRENT_JOINT_DISLOCATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_JOINT_DISLOCATION	MAB21L2	CHST14	IPO8	PRKACB	RYR1	DSE	COL5A2	COL1A1	COL1A2
HP_ACROMICRIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACROMICRIA	NPAP1	HERC2	MEG3	DLK1	SNORD116-1	SNORD115-1	PWAR1	SLC26A2	MKRN3	PWRN1	MAGEL2	RTL1
HP_ABNORMAL_EYELID_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EYELID_PHYSIOLOGY	ATN1	DRD5	PLA2G6	CHN1	TBP	CP	THAP1	TAF1	MECR	PARK7	TWIST1	CPLX1	AARS1	HPCA	TBC1D24	TOR1A	POLR1B	POLR1C	ANO3	PANK2	CACNA1A	FTL	MAPT	ATP13A2	POLR1D	FGFR2	TCOF1	FGFR3	SALL4	CLCN1	KCTD17	TUBB4A	SYNJ1	DDC	MAFB	HSPG2	VPS13A	STARD7
HP_AGYRIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGYRIA	POMT1	TUBB2B	KIF2A	CDK5	TMTC3	CEP85L	DCX	PAFAH1B1	FKRP	FKTN	LARGE1	TUBA1A	TUBG1	TUBB3	DAG1	POMK	POMT2	CRPPA
HP_ABNORMAL_LDL_CHOLESTEROL_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LDL_CHOLESTEROL_CONCENTRATION	PPP1R17	LCAT	APOC3	ANGPTL3	SLC25A13	LPL	GHR	ABCG5	TMEM43	LDLRAP1	B4GALT1	SMPD1	NGLY1	APOA5	LIPA	ABCG8	LMNA	APOB	EMD	SYNE2	LDLR	TMEM199	MTTP	CCDC115	TTPA	MSMO1	CELA2A	EPHX2	APOE	FHL1	PCSK9	CEP19	ABCA2	ALB	PANK2	DYRK1B	APOA2	FDFT1	SYNE1	SLC7A7	ALG6	LRP6	GPIHBP1	CYP7A1	SAR1B
HP_ABNORMAL_HDL_CHOLESTEROL_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HDL_CHOLESTEROL_CONCENTRATION	LCAT	MSMO1	SLC25A13	APOC3	ALMS1	SMPD1	CELA2A	APOE	CREB3L3	LMNA	APOA5	LIPA	ABCA1	CETP	PSMB8	LIPC	MTTP	CEP19	APOA1	GALNT2	PPARG	APOB	SLC7A7	GPIHBP1
HP_DECREASED_EOSINOPHIL_COUNT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_EOSINOPHIL_COUNT	ELANE	CDH23	TP53	ATRX	USP8	CARD10	NR3C1	USP48	BRAF
HP_ABNORMAL_COAGULATION_FACTOR_V_ACTIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_COAGULATION_FACTOR_V_ACTIVITY	LMAN1	AHCY	SLC37A4	MCFD2	F5
HP_ELEVATED_TOTAL_SERUM_TRYPTASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_TOTAL_SERUM_TRYPTASE	TET2	RUNX1	CBL	SRSF2	KIT	ASXL1
HP_MICROGRAPHIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROGRAPHIA	PDGFB	ATXN8OS	PDGFRB	GLUD2	MAPT	NR4A2	SNCA	ATXN2	SLC20A2	FTL	MT-TT	TBP	ADH1C	SNCAIP	VPS13A	GBA1
HP_ABNORMAL_CRANIAL_NERVE_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CRANIAL_NERVE_PHYSIOLOGY	NLRP3	TFG	SMARCE1	FKRP	SEMA3E	FANCB	VCP	BAP1	CHRND	MTMR14	POMT1	UBE2T	LRP12	MYL2	ACTA1	LRP4	SIX1	GAN	CASZ1	FKTN	PMP22	PSAP	TK2	TLR4	TPM2	SALL4	LMOD3	NARS2	LRP5	TCIRG1	DNA2	RRM2B	HSPG2	TBC1D2B	SH3TC2	SDHB	PEX3	SMO	PEX1	AIP	ENG	CFL2	THSD1	POMT2	UBA1	POLG	HOXB1	CLCN7	PALB2	COL6A2	UBA2	HK1	BIN1	MUSK	KBTBD13	PLEC	GFPT1	BRCA2	CDH23	GJA1	LARGE1	PRTN3	CHN1	PEX5	NEFL	GLE1	FRG1	PRDM16	SPEG	HLA-DPB1	PIK3CA	TGFBR3	RAD51C	RYR1	ANGPTL6	PEX6	POLG2	CHRNE	PABPN1	NF2	ZFHX4	SDHD	ANKH	COL12A1	ABCA1	CAPN3	PDPN	KLHL41	MAD2L2	CHD7	FANCA	ANO5	MPZ	MYPN	BRIP1	SUPT16H	ZC4H2	IDH1	RFWD3	MAFB	IL12A-AS1	EYA1	COL6A3	NRAS	SLC25A4	TNFSF11	RERE	SLC52A3	MYH7	SRPX2	ADSS1	DLL4	COL13A1	GABRD	SQSTM1	SPTBN4	LYST	TOR1A	HLA-B	SMARCB1	CHRNA1	BRCA1	CRYAB	SOST	CHCHD10	SLC25A1	ITGB4	CHAT	REV3L	GMPPB	SELENON	PTRH2	MTOR	MTMR2	MMP23B	PLXND1	SGCD	MTM1	BTNL2	CHRNB1	HMBS	SLC52A2	TPM3	XRCC2	PEX10	TRAF7	SNX10	SLC19A3	WDR26	ERCC4	PEX11B	ADA2	PEX14	KLRC4	SDHC	MYD88	HLA-DPA1	TUBB3	SLC5A7	PUF60	CNTNAP1	SYT2	PTDSS1	PEX12	NEB	SYNE1	PEX26	AMER1	IDH2	DACT1	COL25A1	FANCC	COL6A1	DNASE1L3	KLHL40	GJC2	IL10	MYMX	MEGF10	MYMK	PEX13	TTN	SPEN	SDHAF2	PTEN	SKI	AGRN	TUBB6	STAT4	SLC18A3	UGT1A1	TGFB1	LMNA	BAG3	SMCHD1	HLA-DRB1	SHMT2	AKT3	PI4KA	OSTM1	DKK1	IRF4	TWNK	ASAH1	BMS1	AK9	PDGFB	DNM2	CTLA4	KY	ERAP1	YME1L1	CRPPA	VAMP1	LAMA2	IFNGR1	LUZP1	AKT1	DCTN1	PEX16	TRPV4	DES	FANCD2	CHKB	DNAJB6	FANCI	DOK7	KCNAB2	BICRA	TFAP2A	GSN	MYO9A	NOD2	ESCO2	SLC12A6	PEX19	ADGRG1	NAXE	SCO2	SIX5	SLC39A14	ALG2	PTPN11	DMPK	PEX2	COLQ	TRIM32	TERT	TNFRSF11A	ADCY6	PRKCZ	C4A	IL12A	IL23R	MEFV	SCN4A	FANCF	GNE	SNAP25	CCDC174	DPAGT1	MTRFR	MEN1	LAMB2	FANCM	CCR1	SUFU	SLX4	UBE4B	PRNP	FANCL	RAPSN	CRLF1	FUZ	ALG14	TNFRSF1A	FANCE	UBAC2	FANCG	SUCLA2	SALL1	KIF1B	LMX1B	PTPN22	MGME1	RAD51	CA2	TMEM67	COL3A1	FAS
HP_OCULAR_FLUTTER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCULAR_FLUTTER	SLC1A3	SLC35A2	ATP1A2	CACNA1A	ATP1A3	SLC6A3
HP_DELAYED_ABILITY_TO_WALK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_ABILITY_TO_WALK	SLC25A1	WDR4	LMNB2	CYP3A4	RPL10	ADCY5	HS6ST2	CFL2	HECW2	LSS	DPM3	SNRPN	HIVEP2	FOXG1	CYP2U1	SPG11	EIF3F	GNPTAB	RYR1	FBXL3	TBR1	CAMK2A	PGAP1	PLP1	DPYSL5	MEGF8	SPOP	SATB1	CLCNKA	TRIM8	ARID1B	SYNE1	IQSEC1	SLC12A2	WDR26	RORA	EIF2AK1	POLR3B	MECP2	ZEB2	PAK3	SHMT2	SHOC2	KAT6A	AHDC1	NARS1	KDM1A	EXOC6B	SMARCA2	ABCA2	NCDN	TMEM94	CELF2	ARL13B	KDM5B	GRIN1	ZNF407	MTPAP	BCL11B	TRAPPC10	HK1	CHMP1A	PLOD1	CREBBP	PCYT2	LMNB1	CNTNAP2	COL12A1	PAK1	DOCK3	RUSC2	ADGRL1	YY1	RALA	PNPLA2	FBXO11	SPTLC1	CNKSR2	RAB11B	ZC4H2	STAG2	SMC1A	MACF1	PPP2R5D	FITM2	DDOST	MKS1	TCF20	FUS	GARS1	ATG7	HDAC4	CPLX1	UBE3A	NCAPG2	ASXL3	NMNAT1	TRIM2	HNRNPK	BRAT1	CLCNKB	NEUROD2	TMEM106B	PACS2	PUS7	TRIO	OPHN1	POLR1C	BRPF1	TMTC3	TNPO3	EBF3	ATP10A	PIGO	SMARCD1	MPZ	FRMPD4	SLC25A12	GRIA4	RUBCN	NDUFA1	SLC37A4	DYNC1H1	TRRAP	KLHL15	DPF2	MID1	DAG1	LAMA2	TIMM50	ZNF148	MRAS	ZBTB11	SDHB	CRBN	REPS1	KPTN	SNAP25	DLAT	SLC9A7	FKBP14	ALMS1	TMEM147	MYO9A	TANGO2	SLC16A2	DHX30	NUDT2	KMT2E	ODC1	RAB3GAP1	ACTN2	GALNT2	PPP2CA	KARS1	HERC2	CHAMP1	NBEA	TTI2	TMEM222	SYT1	POMK	CWC27	CCDC134	DOLK	H3-3A	AP3B2	INPP5E	FASTKD2	SEMA6B	COG1	ERLIN2	SETD5	RAI1	SELENON	MYT1L	TRMT1	NFIX	ADARB1	PRMT7	CLCN3	CDK13	MAPK8IP3	ATG5	TMEM63A	CUBN	MEF2C	MBOAT7	RAB3GAP2	MRPS25	CHD3	SLC18A2	CLDN11	GRIK2	CHRNB1	SON	WASF1	EP300	PIEZO2	PIGC	FBLN1	PIGG	CADM3	BSND	ATP6V1A	POLR2A	ALS2	XYLT1	ITPR1	RBL2	HYCC1	DYNC1I2	HUWE1	PHEX	MSL3	CASK	NFASC	DHPS	SET	AMN	ATP6V0A1	PMPCA	LBR	COL3A1	LRRC32	AHI1	COPB1	SRCAP	TRIT1	GALNS	AMPD2	FOXP1	MAGEL2	SLC5A7	SIGMAR1	TRAPPC9	TFG	WASHC4	GNAI1	MCM3AP	JAG1	CUL3	ZSWIM6	LARGE1	SLC25A42	KDM3B	NONO	FAR1	MRPS14	FLVCR1	CSNK2B	NDUFA12	CTNNB1	CNOT3	P4HTM
HP_ABNORMAL_CONUS_TERMINALIS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CONUS_TERMINALIS_MORPHOLOGY	CREBBP	MNX1	LETM1	CPLX1	NOTCH3	TRAF7	FGFRL1	HAAO	RASA1	PIGG	EXT2	VANGL1	HNRNPH1	PRMT7	NFIA	ZMYM2	SUPT16H	TRAPPC14	CTBP1	NELFA	PIK3CA	CTNNB1	NSD2	ARPC4	KDM1A	SALL1	EXT1	DARS1
HP_USUAL_INTERSTITIAL_PNEUMONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_USUAL_INTERSTITIAL_PNEUMONIA	SFTPC	ABCA3	SFTPA2	TERT	MUC5B	SFTPA1	RTEL1
HP_NOCTURNAL_SEIZURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NOCTURNAL_SEIZURES	CHRNA2	DEPDC5	CABP4	NPRL2	CHRNB2	CHRNA4	CRH	NACC1	RELN	GRIN2A	SPTBN1	GPHN	GLRA1	KCNT1	NPRL3	KCNN2	LGI1	SATB1
HP_ELEVATED_CIRCULATING_ASPARTATE_AMINOTRANSFERASE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CIRCULATING_ASPARTATE_AMINOTRANSFERASE_CONCENTRATION	OCRL	NR1H4	ATP6AP1	HMOX1	CYP7B1	HADHA	USP53	LIPA	WRN	MYO5B	TTC26	XK	DOCK2	PRKCD	DEF6	APOB	MPV17	CAV3	COG8	SUCLG1	SMPD1	APOE	MRPS2	SLC22A5	VPS33B	MRPL44	NSMCE2	SCO1	LYRM4	PGM1	KIF12	CPT2	MARS1	ATP7B	PEX16	SLC2A2	TWNK	SEMA7A	NFS1	GALT	SLC37A4	ASL	MOGS	BAAT	CPT1A	HADHB	SLC51B	OTC	TMEM165	VPS13A	MRPL3	HMGCS2	ACOX2	VPS50	PEPD
HP_SPASTIC_PARAPARETIC_GAIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTIC_PARAPARETIC_GAIT	SLC39A14	AMPD2	FARS2	FBXO7	KIF1A	ERCC6	ARL6IP1	KIF5A	SHMT2	ATP6AP2
HP_LEG_DYSTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEG_DYSTONIA	GFM2	AOPEP	ACTB	FTL	PARK7	VPS16	KMT2B
HP_ARM_DYSTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARM_DYSTONIA	ALS2	ANO3	DLAT	FTL	SPG11	FUS	VPS16	ATP1A3	AOPEP	SYNE1	SIGMAR1	KMT2B	SPTLC1
HP_ELEVATED_CIRCULATING_ALANINE_AMINOTRANSFERASE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CIRCULATING_ALANINE_AMINOTRANSFERASE_CONCENTRATION	OCRL	NR1H4	ATP6AP1	BCAT2	HMOX1	CYP7B1	USP53	LIPA	WRN	MYO5B	TTC26	XK	STAT2	DOCK2	PRKCD	DEF6	SLC25A13	APOB	TKFC	MPV17	PKHD1	SUCLG1	SMPD1	ALDOA	APOE	MRPS2	SLC22A5	VPS33B	MRPL44	NSMCE2	SCO1	LYRM4	PGM1	KIF12	CPT2	MARS1	ATP7B	SLC2A2	TWNK	SEMA7A	NFS1	ADK	GALT	SLC37A4	GAA	BAAT	TRMU	CPT1A	SLC51B	FADD	OTC	TMEM165	VPS13A	MRPL3	HMGCS2	PCK1	ACOX2	VPS50
HP_ABNORMAL_BLOOD_UREA_NITROGEN_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_UREA_NITROGEN_CONCENTRATION	CFHR1	CFB	ADAMTS13	ERCC8	SLC22A12	FAN1	CFI	ELP1	MRPS7	SLC2A9	C3	CD46	CFHR3	PIGA	ERCC6	THBD	DBH	ERCC4	CFH	CTNS
HP_ABNORMAL_URINE_CARBOHYDRATE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_CARBOHYDRATE_LEVEL	GALK1	OCRL	FGFR2	NEU1	MANBA	IL1B	KRT18	KLF6	STK11	FBP1	SLC25A13	CASP10	GALE	SNX14	GK	KRAS	TKT	MAN2B1	RPIA	DCXR	KHK	APC	IL1RN	TP53	GALT	GAA	GLB1	FUCA1	IRF1	SMAD4	ERBB2	MUTYH	PIK3CA	SKIC3
HP_ABNORMAL_URINE_CARBOXYLIC_ACID_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_CARBOXYLIC_ACID_LEVEL	ABCD4	TCN2	ACAD9	MMACHC	NGLY1	GCDH	HPD	HTRA2	DNAJC19	MLYCD	MVK	CPT2	SERAC1	ETFA	OPA3	ALAD	IDH1	SLC25A20	ATP5F1D	ACADS	UROC1	AUH	L2HGDH	ATPAF2	ARG1	CLPB	ALDH6A1	CPOX	LMBRD1	SUCLG1	ETHE1	ATP5F1E	SLC25A15	RET	NDUFS4	AGK	HCFC1	FOCAD	HMGCL	SCO1	LETM1	MICOS13	BCKDHB	COX16	TAFAZZIN	GATA1	SLC25A1	MMAA	UROS	HADH	ALDH5A1	UMPS	CPT1A	PPOX	SLC7A7	PCCB	OTC	POLG	ACADM	TMEM70	OXCT1	HFE	ASS1	SLC18A2	HMBS	BCKDHA	SUGCT	TIMM50	CD320	DHTKD1	MCEE	ETFDH	HGD	MMAB	DBT	NDUFB10	ACADVL	MCCC1	MMADHC	ATAD3A	NFU1	SLC22A5	ETFB	ACSF3	IDH2	PCCA	PRDX1	SDHA	TAT	SLC13A3	ACAD8	SUCLA2	ASL	TRMU	SLC52A1	MMUT	D2HGDH	KIF1B
HP_ABNORMAL_PUTAMEN_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PUTAMEN_MORPHOLOGY	GCDH	RANBP2	FTL	VPS13A	TUBB3
HP_ABNORMAL_PULMONARY_THORACIC_IMAGING_FINDING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PULMONARY_THORACIC_IMAGING_FINDING	ZMYND10	B2M	DNAJB13	TERC	LRRC56	IL10	CCN2	RTEL1	FAS	CSF2RA	SFTPB	RPGR	IFNGR1	LTBP4	UBA1	GAS8	DNAAF4	OFD1	HLA-B	RSPH3	IFIH1	HIRA	DOCK2	SLC41A1	TLR4	PLEC	DNAL1	RAB27A	MALT1	CAV1	COL3A1	STK36	TSC1	C4A	CSF2RB	ODAD4	DRC1	EIF2AK4	PAX3	TSC2	CFAP300	IL12A	MUC5B	TBX1	STAT4	STN1	CYBB	IL23R	RASGRP1	BCL11A	FAM13A	GP1BB	HLA-DRB1	SFTPA2	CCR6	ARVCF	ATP11A	MEFV	CCDC65	DNAAF3	PRIM1	RREB1	DNAAF1	IRF5	ODAD3	NHLRC2	BIRC3	HBG1	FOXJ1	CCDC40	NME8	HBG2	ABCA3	PDGFRA	SLC34A2	COMT	TERT	ODAD2	ODAD1	CTLA4	DNAI2	GBA1	ERAP1	DNAH1	DNAH5	SFTPA1	DNAH9	RIPK4	SPAG1	SFTPC	BTNL2	SEC24C	TTC12	DNAAF11	PRTN3	PRKCD	STAT3	SMPD1	CCR1	LAMA2	LPIN2	DNAI1	DNAH11	CFAP221	RSPH4A	B3GALT6	CASP10	BACH2	NEK10	HYDIN	HLA-DPB1	SPEF2	CFAP298	KLF1	RSPH1	FOXP1	DSP	DPP9	KLRC4	FASLG	CCDC103	OCRL	STAT1	MCIDAS	CCNO	RSPH9	IL2RA	BCL10	MYD88	GAS2L2	DNAAF2	TP73	HLA-DPA1	JMJD1C	DNAAF6	CXCR4	DNAAF5	UBAC2	APOE	HBB	BMPR2	NKX2-1	PTPN22	PARN	CCDC39	IL12A-AS1	ASAH1	UFD1	KIF1B
HP_DIMINISHED_ABILITY_TO_CONCENTRATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIMINISHED_ABILITY_TO_CONCENTRATE	EMC10	TBL1X	TWNK	POLG	ERF	TREX1	HERC2	DYM	SPTBN1
HP_HOFFMANN_SIGN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HOFFMANN_SIGN	GALC	CHP1	ALDH18A1	BCAT2	UCHL1	PI4KA	ABCD1
HP_HETEROPHORIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HETEROPHORIA	HACE1	MECR	SCN8A	HOXB1	TRAPPC11	KIDINS220	GJA8	AFF4	GJA5	TBX1
HP_HETEROTROPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HETEROTROPIA	PHGDH	WARS2	CACNA1A	LCA5	KCNMA1	IARS2	GRM1	CLCN3	ZEB1	POLRMT	CPLANE1	ATOH7	OCA2	PHOX2A	VRK1	MKRN3	KIAA0753	PIGY	FBXO28	COL13A1	AMMECR1	PIGV	MBD5	PAX6	TCTN3	MAGEL2	TBC1D2B	FBXW11	SLC25A46	ATP1A3	RORA	SLC17A5	MYOD1	TBC1D23	TMEM231	NALCN	COL6A1	HMGB3	PMM2	KAT6A	HADHA	AHDC1	KDM1A	CLCN6	NCDN	UNC80	SLC5A7	GTF2H5	HOXB1	TMEM67	PIDD1	DPAGT1	EXOSC8	ADGRG1	EXOSC5	CHMP1A	CDC42	COL4A2	TOPORS	ZEB2	EXOSC9	PPP1R21	OFD1	COL6A2	SLC6A8	VAMP1	NGLY1	FGFR3	AP1G1	MPLKIP	FGF10	PPP2R5D	SCO2	ADD3	PRPS1	KIDINS220	ARHGAP31	OVOL2	DYRK1A	ATAD3A	DLK1	NMNAT1	ARPC4	AHCY	APC	UFSP2	COG8	POU4F1	GTF2E2	LAGE3	NEUROD2	RTL1	KIF7	UBE3A	RRAS2	BLOC1S3	TUBB3	FBN1	MED12	SOX5	COL6A3	GNB1	WT1	PDE4D	ALG2	HERC2	CLP1	MEG3	SIAH1	GNA14	PIGN	ZC4H2	MYO9A	KDM6B	SEC23A	PDE6D	SLC1A3	TAF2	NPAP1	PRKAR1B	ERCC3	SLC12A6	SREBF1	CDC42BPB	SNORD115-1	RERE	DNMBP	PTRH2	ABCC9	COL12A1	HPS3	AGTPBP1	GLRB	PWRN1	SLC18A3	KAT8	GNB2	GALNT2	PCDHGC4	H4C5	DDOST	SNORD116-1	SLC35A2	PWAR1	EXOSC3	ADAT3	PTEN	THOC2	GRID2	MADD	CYB5A	TARS1	SLC25A1	IRF2BPL	PUF60	TMEM216	CHAT	CHST3	ALG9	RPL10	SLC38A8	POLG	SALL2	SYT1	FGFR2	FRMD5	CARS1	RRM2B	ADARB1	ATRX	SNAP25	PURA	LMNB1	SOST	PIGT	TBX1	PGAP2	USP7	COL4A1	PYROXD1	NEXMIF	SPATA7	HNRNPH2	VSX1	ATP1A2	CYB5R3	RP1L1	DPM1	LGI4	PYCR2	MYF5	POLA1	ERCC2	PEX5	TYR	RNF113A	RPE65	EMC1	CAMK2B	LMBRD2	NSD1	NR2F1	KIF21A	SMAD3	SON	AGRN	BCOR	H4C11	PIGW	HUWE1	HPDL	CACNA1F	PGAP3	TENM3	ROBO3	CRIPT	CRB1	PIGO	ALDH3A2	EXOC8	COL8A2	GALC	LRAT	MRPS34	LRP5	RNF2	PRR12	TRIT1	NTNG2	COL11A1	RNASEH1	NONO	B3GAT3	TGFBR2	SYT2	EFNB1	FAM149B1	POGZ	ZSWIM6	BCORL1	SNRPN	FZD4	MC1R	SOBP	ADNP	LYRM7	DPP6	ACADSB	GRHL2	TGFBR1	GBA1	PIGL	P4HTM
HP_ABNORMAL_SPUTUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SPUTUM	DNASE1L3	ZMYND10	DNAJB13	FOXE3	LRRC56	COL3A1	IL10	SCNN1G	COL5A2	SERPINA1	GAS8	MYLK	TGFB1	DNAAF4	OFD1	HLA-B	RSPH3	TLR4	IL12B	DNAL1	MLX	STK36	TGFB2	SLC9A3	TSC1	KCNN4	C4A	ODAD4	TSC2	CFAP300	IL12A	ACTA2	STAT4	IL23R	CFTR	CLCA4	CLEC7A	HLA-DRB1	MAT2A	MEFV	CCDC65	DNAAF3	GDF2	FBN1	SLC26A9	DNAAF1	ODAD3	SMAD4	IFNG	FOXJ1	CCDC40	NME8	CEACAM6	SLC6A14	SLC34A2	FCGR2A	ODAD2	CTLA4	DNAI2	HMOX1	ERAP1	DNAH1	DNAH5	ACVRL1	DNAH9	GIMAP5	TGFB3	GSTM3	SPAG1	BTNL2	TTC12	LOX	DNAAF11	PRTN3	RPGR	CCR1	DNAI1	DNAH11	TRAF3IP2	TGFBR1	CFAP221	RSPH4A	GCLC	NEK10	IFNGR1	TLL1	IL17RA	HYDIN	HLA-DPB1	SCNN1A	SPEF2	CFAP298	SCNN1B	MFAP5	RSPH1	DCTN4	KLRC4	MYH11	CCDC103	HEY2	MCIDAS	CCNO	RSPH9	PRKG1	F5	HFE	SMAD2	GAS2L2	EDNRA	DNAAF2	HLA-DPA1	ENG	DNAAF6	SLC11A1	DNAAF5	UBAC2	IL17F	CEACAM3	PTPN22	STX1A	IL17RC	DRC1	ELN	CCDC39	IL12A-AS1	EIF2AK4	MIF	ODAD1	COL5A1	TGFBR2	FAS	SMAD3
HP_DECREASED_VIGILANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_VIGILANCE	CDKN2C	PRRT2	CDKN2B	CDKN1B	PLP1	MEN1	CACNA1A	CDKN1A	SCN1A	ATP1A2
HP_FOCAL_CORTICAL_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_CORTICAL_DYSPLASIA	CNTNAP2	NUP133	NPRL2	MTOR	POMT1	TSC1	DEPDC5	SCO2	COL4A1	TSC2	PIK3CA	DYNC1H1	NPRL3	AKT3	COPB2
HP_FOCAL_CORTICAL_DYSPLASIA_TYPE_II	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_CORTICAL_DYSPLASIA_TYPE_II	TSC2	MTOR	TSC1	DEPDC5	NPRL3
HP_HYPEREOSINOPHILIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPEREOSINOPHILIA	IPO8	SPINK5	CARD9	NLRP1	TRAC	EXTL3
HP_GASTROINTESTINAL_EOSINOPHILIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROINTESTINAL_EOSINOPHILIA	TGFBR2	TGFB3	STAT1	TGFB2	ARPC1B	JAK1	SMAD3	TGFBR1	TGFB1	DOCK8
HP_ANTI_THYROGLOBULIN_ANTIBODY_POSITIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTI_THYROGLOBULIN_ANTIBODY_POSITIVITY	POMP	CARD10	RASGRP1	THRB	NFKB2
HP_ABNORMAL_MALE_URETHRAL_MEATUS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MALE_URETHRAL_MEATUS_MORPHOLOGY	PIGN	BCOR	CYP11A1	MECP2	MKKS	FANCB	FBXL4	CUL4B	CUL7	HES7	KIAA0753	UBE2T	GPC4	ZNF699	HYLS1	CASZ1	PITX2	SMARCB1	ZFPM2	ORC1	TERT	WASHC5	NDUFB11	FRAS1	PTPN11	SETD2	EHMT1	GATA4	RPS24	LMOD3	IGF2	FZD2	CDT1	NSD2	TRIM8	DHCR7	HSPG2	RPS27	GLI3	GP1BB	CYP17A1	ADA2	SMARCA4	SRY	TAPT1	LIG4	RPS28	TTC8	ZEB2	ZMPSTE24	WWOX	MED12	RREB1	SRD5A2	CCDC8	PARN	OBSL1	NR5A1	SMC1A	PTPRF	KDM5B	UBA1	ARID1B	ORC4	FREM2	PALB2	HNF1B	MED12L	RPS29	ALG12	CREBBP	POLR3A	CDC6	CDCA7	USP9X	HOXA13	MAMLD1	BRCA2	SMCHD1	STAR	RPL35A	CHRNG	B9D2	PSMD12	WNT4	TP63	ISL1	TBX22	TBX1	PRDM16	SCUBE3	WT1	C2CD3	KIF7	KIAA0586	RAD51C	FGFR1	CTC1	PCNT	SKIC3	APC2	CSPP1	ARID1A	PDPN	MAD2L2	CDC42	RAF1	NPM1	FANCA	ATR	AR	MTM1	GATAD2B	PDE4D	BRIP1	EVC2	FIG4	COLEC11	MESP2	RFWD3	SMARCD1	MID1	HCCS	SPRED1	SOX9	RAD21	GNA11	SYNGAP1	DMRT3	LETM1	CPLX1	DLL3	RERE	SPTBN1	FOXF1	ERMARD	KDM6A	GABRD	PTDSS1	RTTN	CDC45	BDNF	RPL26	HSD3B2	WRAP53	NAA10	NR0B1	COLEC10	PNPLA6	SALL1	CYB5A	SAMD9	KLHL41	PAX6	BRCA1	RAC1	NSD1	GRB10	SMS	CDH11	PEX5	GPC3	RPS19	B3GLCT	ATRX	MMP23B	WDR35	VAC14	COMT	POR	RPS15A	AFF4	KRAS	CCDC22	EP300	ZMIZ1	SEC24C	NOTCH2	DCHS1	PEX16	COX7B	FLNA	H4C11	HUWE1	ERCC4	MCTP2	MAPRE2	DYRK1A	HBA2	BRAF	KLF1	PSPH	SMARCE1	SOX11	LFNG	RLIM	CARS1	SRCAP	NDUFA6	PUF60	HNRNPH1	THOC6	MED25	CILK1	KDM3B	RPS7	FDFT1	DACT1	POLE	FANCC	NDUFA8	TERC	PRKACB	BRD4	ADAT3	HBA1	KAT5	RPL10	COL3A1	LSS	MYMX	LMNA	HMGA2	KIFBP	RPS26	RNU12	SPEN	ATP6AP2	CTBP1	SSR4	GATA1	KLHL40	DVL3	SKI	HDAC8	ORC6	RSPO1	MTOR	NDUFS4	MYRF	WNT5A	FGFRL1	NDUFB7	TONSL	NHP2	EFNB1	PEX3	NOP10	MBTPS2	KDM1A	SMARCA2	TMEM94	TINF2	PEX1	RPL15	PRPS1	RPL11	WNT7A	RTEL1	FAT4	PAICS	TMEM70	MAB21L2	PEX6	RPL27	MYMK	PEX19	SLC25A10	PRKAR1A	LUZP1	UBR1	SIN3A	NEB	ARCN1	ABL1	USB1	FANCD2	RPS10	SMAD4	PEX13	OGT	FANCI	DKC1	TUBB	PIGG	SMG8	KCNAB2	SIAH1	SMARCC2	ZMYM2	GMNN	BICRA	TFAP2A	RPL18	PQBP1	NELFA	EPG5	XRCC2	EVC	RPL31	RPL5	CDKN1C	ESCO2	NSUN2	DVL1	ARX	SETBP1	CDC42BPB	NIPBL	KMT2D	DNAJC19	PEX11B	HIRA	KARS1	ACTA1	PLAG1	MAP3K1	PRKCZ	CLMP	PEX12	SOX4	VAMP7	SUCLG1	DHX37	MNX1	FOXC1	CEP152	TSR2	SOX2	ARVCF	FOCAD	SMC3	COG1	PEX10	FGFR2	FANCF	SETD5	GLI1	PIEZO2	PEX2	TMEM63A	TYMS	ARL6IP6	MAP2K1	RPS20	ARID2	PPP1R12A	GRIP1	SIX6	PEX14	UBE2A	FANCM	SLX4	KANSL1	UBE4B	ANKRD11	NKX2-1	TCF12	FANCL	RPS17	RBBP8	DPF2	RPL35	JMJD1C	RIPPLY2	OTUD5	FANCE	DYNC2LI1	FANCG	PEX26	HOXD13	RAD51	KAT6B	UFD1	CHRNA3	BUB1B	PRKACA	CYP21A2
HP_LEFT_VENTRICULAR_OUTFLOW_TRACT_OBSTRUCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEFT_VENTRICULAR_OUTFLOW_TRACT_OBSTRUCTION	TAB2	MYH6	VCL	GAA	FHOD3	GDF1
HP_UNUSUAL_INFECTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNUSUAL_INFECTION	FOXP3	MGP	ARSB	ODC1	VPS37D	CTCF	GJB2	ARHGAP29	IL17F	SERPINA1	C1R	LTBP4	ZNF699	STK4	SERAC1	PURA	RSPH3	KCNJ6	SLC41A1	SMARCB1	TERT	ADAMTS3	EHMT1	GNPTAB	ALG1	POMP	LAMTOR2	FCHO1	AP3D1	IFIH1	CR2	NSD2	VPS51	HPS6	GAS8	RNF113A	TBK1	NAGLU	SETD2	TCTN3	WDR26	SLC39A8	SMARCA2	RAC2	MESP2	MBTPS2	ZEB2	PDGFRA	DYRK1A	STAT1	SLC39A4	NFKB1	RFXANK	UNC119	FLNA	HBG2	ARID1B	VPS33A	PALB2	FCGR3B	COL6A2	DNAH1	PRPS1	MAGT1	CREBBP	POLR3A	ALMS1	BRCA2	VPS4A	REEP1	LMNB1	LRBA	ANTXR2	TRPS1	GBA1	PRTN3	CFAP410	EOMES	USP8	DNAI1	NFKB2	GALC	PIK3R1	CFAP221	LEPR	TSEN54	SLC3A1	PGM3	MYL2	IL6ST	LYST	FKBP6	SCNN1B	XIAP	ZMYND10	MGME1	FOXN1	CLEC7A	RFXAP	ACTC1	RYR1	GINS1	FLI1	FOXP1	IL12RB1	LBR	SULT2B1	RNU7-1	CTSC	CD8A	KDM5C	IGBP1	CSPP1	ARID1A	REL	MCIDAS	BAP1	TRIO	OTULIN	DYM	MAD2L2	ATN1	DBR1	SMARCAL1	GAS2L2	EDNRA	SLC37A4	TP73	ACP5	KIF1A	SLC11A1	CTNNBL1	IL12A	WAC	SGSH	PET117	HBB	COL4A5	HLA-DRB1	BRIP1	RSPH4A	NNT	LIG3	PKD1	USP48	USB1	EFL1	CD19	SPI1	TRRAP	PNP	NDN	IL12A-AS1	MIF	SDR9C7	LIPN	GATA4	B3GALT6	CFAP298	PTEN	CAVIN1	MYPN	TOM1	MAN2B1	JAK3	SRY	IGKC	PIK3CD	DPM2	CFAP52	PCGF2	CLDN19	NUP214	GATA6	MANBA	TNFSF11	SNORD115-1	SLC52A3	NGLY1	KDM6A	NCF1	ZBTB24	CLPB	ADA	RFX5	ADNP	OFD1	NBN	CHAMP1	FUCA1	KMT2D	SRP54	TAPBP	IL12B	SAMD9	FARSB	UBE3B	MS4A1	GOT2	CFTR	BCL10	TNNT2	C6	FCSK	SLC25A1	ABCA12	TBC1D24	MEG3	ZAP70	FLNC	STAT3	CISD2	SLC26A9	AIRE	FCN3	DNAAF1	MPEG1	SP110	TBCE	UMPS	SELENON	TBX1	TRAC	TLR8	SLC7A7	TNFRSF11A	IGHM	CARD9	POLR3GL	ASXL1	BAZ1B	ZNF341	CCDC22	BTK	NCKAP1L	SLC35A2	DNAJB11	WASF1	NOTCH2	WDR1	EP300	SPINK5	SMPD1	RPGR	SON	HLA-B	VANGL1	EIF4H	SHANK3	CFB	IL17RA	SNORA31	NLRC4	TYK2	JAGN1	PAK2	SH2D1A	SCN10A	EYA4	NXN	ITGA7	FERMT3	KLRC4	CARD10	DLL3	SOX11	AGXT	TCF3	CCDC103	MAGEL2	TTC12	PHKG2	CCNO	SRCAP	TGFB1	JAK1	MYD88	MC2R	FBXW7	ARHGEF1	ELP1	SYT2	NUMA1	GRM7	PEPD	CXCR4	PKHD1	NKX2-1	MSN	PLCG2	PRKCD	SIM1	FADD	CCDC39	FLVCR1	ASPRV1	EIF2AK3	FANCC	CIITA	NCF4	IFNGR1	IRF3	ATP7A	COL6A1	P4HTM	IKBKG	DNASE1L3	UNC13D	PPM1D	HYAL1	ERCC6	DNAJB13	KAT5	CPSF3	SNRPN	GATA2	IL10	SCNN1G	TRIP11	GRHL3	MKRN3	IRF8	KMT5B	MAP3K7	RAG1	MALT1	PLG	METTL27	HYOU1	MBD5	ITGB2	SATB1	HLA-DQB1	STAT4	INPPL1	DCLRE1C	CD79A	CEBPE	CLCA4	PLEKHM1	KATNIP	TONSL	PEX5	CD3E	COL11A2	CCDC47	RAG2	H4C3	STAT5B	TNFRSF13B	G6PC3	FBLN5	UNC93B1	IRF4	UROS	GLIS3	CPLX1	IL2RG	FOXJ1	SLC5A7	NME8	DGCR6	KRT1	TPP2	GTF2H5	NME5	GRIA3	AP3B1	DNAH11	BCL11B	PRKAR1A	ODAD2	ERAP1	BCL7B	LMBRD1	SLC46A1	RAB27A	PPP1R21	IDS	HOXA13	KIF20A	TOP3A	TRIP4	MYH3	MYSM1	CRKL	LAT	RPL10	EFEMP2	ICOS	BCOR	NEK10	EN1	SIN3A	BRAF	HYDIN	NKX2-5	NCF2	SPEF2	KLF1	RAC1	COG6	CARD11	IRF7	KAT6B	TMCO1	ERF	IL10RB	NECTIN1	TBX21	ALG3	DNAAF2	MED12	C8B	FANCI	PIGG	STX3	ALG13	MLXIPL	RARA	RNU4ATAC	TAOK1	SAMD9L	CSF3R	MNS1	DEAF1	HERC2	UGP2	SMARCC2	MSX1	DNAAF5	GLRA2	TTC7A	THOC6	MAPK1	DSG1	HGSNAT	XRCC2	MYO5A	ENG	ASAH1	CD3D	OCA2	WAS	ERCC3	NSUN2	ELN	DGCR2	TCIRG1	TBX6	GAA	PCNT	CD55	ADAM17	BLNK	LAMB3	NABP1	HPGD	COLQ	SLC18A3	IFNG	KPTN	TIMMDC1	STAT2	SLC29A3	NBEA	INSR	DDOST	GLB1	IL10RA	SETBP1	TSC1	C4A	SLC1A4	FLT1	SOX4	ADAT3	SBDS	EGFR	SKIC2	CYBB	IL23R	BCL11A	WASHC5	ISG15	CTPS1	FOCAD	MEFV	IKBKB	SLC7A9	NPM1	C8A	COG1	SLC35C1	ATR	SMN1	NR3C1	FANCF	TAFAZZIN	COL4A6	ELANE	CARS1	BUD23	NFIX	BIRC3	STX11	CD79B	SNAP25	RSPH1	PYROXD1	ALOXE3	KMT2B	NIPAL4	CTLA4	TYMS	HMOX1	DOCK8	LONP1	DNAH9	IFNGR2	CORIN	MYL9	WFS1	TAP1	DNAAF11	CD27	KRT5	LAMB2	LIFR	TPM3	UBE2A	FANCM	MMEL1	IL17RC	RNF168	SCNN1A	DNAI2	SASH3	TTC26	KCTD1	ANKRD17	DEF6	SMARCD2	ZNFX1	DPF2	ADA2	DNASE2	ARPC1B	WDR35	NLRP3	CD81	PIGU	FMR1	RIPK1	DDR2	CD40LG	USP9X	RNF2	DNAAF3	SLC2A1	IL2RA	TET2	COL11A1	LAMA3	IDUA	GALNS	CD3G	TECPR2	TNFRSF1A	FANCE	IGLL1	ORC6	FANCG	DLX4	WIPF1	TICAM1	TNFSF12	TBL1XR1	CTBP1	ODAD1	COL5A1	PSAP	SEPSECS	CHRNA3	HPSE2	GUSB	MDM4	UBA2	EXTL3	TSEN2	IRF2BP2	FANCB	AASS	IFT122	RASGRP1	POLA1	FBXL4	ARSL	NDE1	UBE2T	FIP1L1	DLK1	CITED2	EPHB4	RTL1	HAX1	PRF1	DOCK2	IDH1	IFNAR1	TLR4	CYBC1	FBXO28	CHRM3	SMARCE1	STK36	PLOD1	MTM1	DRC1	IFT140	IL7R	LRRC56	TSC2	CFAP300	DZIP1L	C4B	CACNA1B	ARL3	DHCR7	TRAF3IP2	MNX1	SPIB	IRF9	GLI3	TF	SMARCA4	CCDC65	CD4	L2HGDH	LIG4	TBC1D23	EXT1	ALOX12B	PARN	TLR3	KAT6A	IKZF3	CLCN7	FGFR3	CD247	MASP2	EDARADD	ODAD3	CEACAM6	PHIP	ADORA2A	FCGR2A	DNAH5	SH3KBP1	ALG12	CDCA7	SPAG1	NDUFC2	KMT2C	PCYT1A	TP63	SOCS1	HSPA9	PSMD12	YY1	ORAI1	ISL1	GCLC	ATP6V0A2	GRHPR	CTNNB1	RSPH9	KNSTRN	TXNRD2	HLA-DPB1	CDH1	IKZF1	AGA	BCHE	KIAA0586	RAD51C	TPM2	ASXL3	CTC1	GTF2E2	IRAK4	BMP4	HFE	CDC42	TLR7	TGM1	MDFIC	FANCA	MBL2	LCK	RUNX2	MED13L	SETD1A	CDH23	CLIP2	HACD1	TMC8	POLR3F	FCGR3A	PRKDC	KANSL1	LEP	RFWD3	ZNHIT3	SMARCD1	ALB	ROR2	IL6R	TNNI3	SLC6A19	PML	COL6A3	SOX9	POU2AF1	PRKAR1B	NPHS1	AICDA	SREBF1	SLC25A22	SPTBN1	UBB	COL13A1	STXBP2	MYH11	UROD	IL21R	PWRN1	SPTBN4	SKIC3	CARMIL2	GNB2	MIR140	WRAP53	NAA10	CASP8	CFI	PWAR1	UROC1	KCNN4	IL7	GMNN	MRAP	ODAD4	POLE	DNAAF6	DOHH	BRCA1	EPG5	TASP1	BCL6	VPS45	DGCR8	CHAT	COG4	DDB1	TSEN34	DYNC2I2	PTPN22	APRT	STAR	MRTFA	HELLS	ITK	SLC39A7	MGAT2	TK2	MECP2	SLC6A14	BLM	LCP2	BPTF	C1QC	GIMAP5	AKT1	ATP6AP1	ATRX	ATM	SNX10	PKP1	NTRK1	CORO1A	ERCC4	DISC1	NFASC	MCM10	SLC5A2	COL2A1	RNF125	OCRL	PSENEN	CFH	UQCRH	ACTA1	HLA-DPA1	P4HA2	POGZ	NHEJ1	CEACAM3	STX1A	BNC2	MTHFD1	KRT14	VARS1	LIG1	ERCC2	DLG1	CD70	TERC	C5	TBX20	MAP3K20	ITCH	CYP4F22	IARS1	ITGA3	TFRC	SF3B1	C1QA	TNFRSF13C	PKD2	COL5A2	RELB	CD40	DDX59	DNAAF4	CLDN16	PHKA2	ALDH18A1	PLEC	CCBE1	DIP2B	LTBP1	TNRC6B	FAT4	SLC9A3	ATP6AP2	ECM1	IL21	TP53	PI4KA	GFI1	NHP2	TAP2	GTF2IRD1	MINPP1	GNS	NOP10	CYBA	SDCCAG8	PSMB9	RMRP	IRF6	TMEM94	TINF2	LRIG2	CACNA1C	CLTRN	RTEL1	NFE2L2	RPL11	ALPL	TMEM70	TRAIP	GLUL	NFKBIA	TLL1	GRIA1	VAMP1	STING1	LETM1	LAMA2	FBXO11	PSMB8	MPLKIP	SYK	BACH2	TBCD	DCTN4	RFC2	FANCD2	RBCK1	SCN11A	SCN9A	DDX6	TBL2	GEMIN4	TRIM37	NEPRO	GTF2I	TNPO3	SIK1	MCM4	TFE3	RALGAPA1	SIAH1	CFD	ALDH1A2	TNFSF15	NELFA	MYO9A	C7	EXOSC9	PIK3CG	B2M	DNAJC30	BCL2	NPAP1	SPPL2A	ESS2	CDC42BPB	A2ML1	BCR	IER3IP1	SMG9	OAS1	MVK	LMNB2	ZBTB16	ELF4	DNAL1	H4C5	SNORD116-1	FMO3	CCDC40	AK2	WDR19	TSEN15	GANAB	SUCLG1	ACVRL1	IVNS1ABP	TARS1	DKC1	ANAPC1	TNXB	IL2RB	PDHA1	ZBTB7A	DNMT3B	PRIM1	FOXC2	DNAJC21	SLC26A2	GATA1	KIF15	UNG	NHLRC2	SEC61A1	HBG1	IRF5	SHROOM4	LRRC8A	ALG5	GJB6	ARID2	RAB3GAP2	GSTM3	GORAB	MYH6	LAMC2	CCR1	CXCR2	C3	SLX4	AGRN	POLR2A	PSMB4	COG7	GTF2IRD2	LIMK1	FANCL	PSEN1	CRIPT	BTD	IGHG2	STIM1	STOX1	TMEM270	BICC1	SLC35A1	SFTPC	PGM1	PHKB	RPS14	PLP1	UBAC2	MED25	NRAS	C1QB	HEPHL1	RAD51	ALG9	IFNAR2	KRAS	FAS
HP_SACCADIC_OSCILLATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SACCADIC_OSCILLATION	FRMD5	SLC1A3	CLCN7	SLC35A2	VPS13D	TNFSF11	ATP1A3	TCIRG1	KIF1B	ATP1A2	GBA1	TMEM240	CACNA1A	SNX10	SLC6A3
HP_CONJUNCTIVAL_ICTERUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONJUNCTIVAL_ICTERUS	PIGA	PIEZO1	SLCO1B3	PKHD1	SLCO1B1
HP_LIMBAL_STEM_CELL_DEFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMBAL_STEM_CELL_DEFICIENCY	NLRP1	GJB2	PAX6	DDR2	FGF10	FGFR3	FGFR2	GJB6
HP_ABNORMAL_PERIPHERAL_NERVOUS_SYSTEM_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PERIPHERAL_NERVOUS_SYSTEM_PHYSIOLOGY	CHCHD10	TFG	FXN	VCP	ARSA	MED25	MATR3	EDNRB	HSPB1	GJC2	TPI1	SAMD9L	DHH	SPTLC2	PMP22	FBLN5	NEFL	CPLANE1	POLG	DNM2	EGR2	TIMM8A	IDUA	ERCC6	OTOF	SETX	SLC12A6	MORC2	PMP2	PLP1	PSAP	PNPT1	EPM2A	SPTLC1	PLEKHG5	SH3TC2	SUMF1	PRX	SORD	FBN1	FBXO38	BSCL2	ATP7B	GALC	ERCC4	RAB7A	REEP1	ERCC8	MFF	UQCRC1	COMP	NDRG1	MFN2	SYT2	VPS13A	TBC1D24	PRPS1	GFM2	CTDP1	SBF2	MPZ	HK1	HSD17B4	NOTCH2NLC	SPG21	MYH3	FGD4	SBF1	GDAP1	ATXN1	TRPV4	NMNAT1	CYP27A1	PEX6	RETREG1	TTPA	FLVCR1	DEGS1	JPH1	NEU1	LITAF	PDK3	DNAJB6	NHLRC1	PLA2G6	NALCN	CEP126	ABHD12	LMNB1	KIF1A	LRSAM1	GJB1	KARS1	LAMA2	LTBP3	MYH14	IGHMBP2	SOX10	ATL3	DHX16	DNAJC3	NGLY1	OPA1	SPTBN4	MPV17	LYST	AARS1	TYMP	DIAPH3	LMNA	ABCD1	PNKP	ARHGEF2	RRM2B	ALS2	TBC1D20	YARS1	SEMA6B	SACS	LIG3	RAI1	MTRFR	RIPOR2	PTRH2	ATXN10	MTMR2	HSPB8	ARHGEF10	CCT5	DCAF8	SNAP29	FIG4	WNK1	MOGS	CADM3	SLC25A15	NTRK1	MARCHF6	HYCC1	SIGMAR1	HPDL	NFASC	ATP11A	AIFM1	ERCC3	RFC1	EMILIN1	SAMD12	SCN9A	YEATS2	HINT1	EBP	KIF1B	GARS1	ATL1	STARD7	SUCLA2
HP_VERY_LOW_VISUAL_ACUITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERY_LOW_VISUAL_ACUITY	OVOL2	VSX1	GRHL2	ZEB1	COL8A2
HP_DECREASED_CIRCULATING_TOTAL_IGG	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_TOTAL_IGG	SYK	ATP6AP1	MS4A1	IVNS1ABP	KNSTRN	CD19	CR2	PIK3CD	CD81
HP_DECREASED_CIRCULATING_IGG_SUBCLASS_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_IGG_SUBCLASS_LEVEL	PIK3CD	RNF113A	ATM	CD247	IFIH1	EPG5	CD3G	CR2	ADA	CTPS1
HP_DECREASED_SPECIFIC_ANTIBODY_RESPONSE_TO_VACCINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SPECIFIC_ANTIBODY_RESPONSE_TO_VACCINATION	B2M	BTK	CD247	REL	CD19	RIPK1	AICDA	LRBA	CD81	CTPS1	ICOS	RAC2	TNFRSF13C	ARHGEF1	TNFRSF13B	CR2	IRF2BP2	SASH3	CARMIL2	KNSTRN	PIK3CD	CASP8	IKBKG	HYOU1	CARD11	ALG12	CD70	TCF3
HP_EPISODIC_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISODIC_PAIN	LPL	NF1	SDHD	SDHB	GNE	FLI1	PNPT1	CDC73	FH	MC2R	SDHC	PIGA	ESR1	VHL	SLC25A11	F12	EPAS1	CPT2	DAXX	TMEM127	KIF1B	STAR	MAX	MEFV	LEMD3	MDH2	NNT	TXNRD2	ERBB3	TGFBI	DNMT3A	SDHA	HEXB	CDKN1B	ATRX	RET	MRAP	DLST	SDHAF2
HP_KERATOSIS_PILARIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KERATOSIS_PILARIS	GJA1	KRT81	KRT86	ODC1	SREBF1	KDF1	MAP2K1	NRAS	KRT83	SOS1	SOS2	LRP1	COL12A1	CARD14	BRAF	FLG	KRT16	ZNF750	SHOC2	NLRP1	GNB2	COL6A3	COL6A2	LZTR1	COL6A1	HEPHL1	RAF1	MAP2K2	MBTPS2	MARS1	WNT10A
HP_JOINT_SUBLUXATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_SUBLUXATION	IDUA	DDR2	COL1A1	ADAMTS2	MADD	GLI3	ARSL	CHD7	COL1A2	IFIH1	GALNS	B3GALT6	MMP2	PUF60	RMRP	TNXB	EFEMP2	FLNB	HNRNPH1	DCHS1	COL2A1	XYLT1	KIF22	LTBP1	COL5A1	GLB1	FBLN5	PLOD1
HP_APHTHOUS_ULCER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APHTHOUS_ULCER	ELANE	NLRP3	HLA-DQB1	NCF4	WDR1	NOD2	PRKCD	IL10	CCR1	FAS	IL17RC	ORAI1	CLPB	HLA-B	SASH3	DCLRE1C	CARMIL2	CASP10	IFNGR1	RIN2	MEFV	TLR4	MVK	NLRP12	C4A	ADA2	HYOU1	RNF125	KLRC4	IL21	FASLG	IL12A	STAT4	IL23R	CEBPE	GFI1	RASGRP1	UBAC2	TCIRG1	PRKDC	TLR8	SRP54	IL12A-AS1	ERAP1	IL6	HLA-DQA1
HP_ABDOMINAL_CRAMPS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABDOMINAL_CRAMPS	TYMP	POLG	TET2	RUNX1	CBL	SRSF2	ASXL1
HP_UNUSUAL_INFECTION_BY_ANATOMICAL_SITE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNUSUAL_INFECTION_BY_ANATOMICAL_SITE	FOXP3	DNASE1L3	UNC13D	IL2RG	BCL2	WIPF1	IKBKG	TFRC	NDE1	IL10	BLNK	STAT1	PRF1	MVK	DOCK8	TCF3	CARMIL2	HLA-B	BTK	WAS	TLR4	CFI	RFXANK	C4A	IL7	HYOU1	JAK3	IL12A	C4B	STAT4	TBK1	ACVRL1	IL23R	BCL10	BCL6	NCF1	MEFV	C8A	L2HGDH	NCF2	RFX5	HLA-DRB1	SLC35C1	TNFRSF13B	UNC93B1	LBR	TLR3	CYBA	PTPN22	RAG2	STXBP2	IRF4	MRTFA	STX11	CD79B	CYBB	CLTRN	LRRC8A	CARD9	FCGR3B	CTLA4	ERAP1	TMEM70	IGHM	NCKAP1L	CD27	PRTN3	ICOS	CCR1	CYBC1	VANGL1	PIK3R1	IFNGR1	CFB	PGM3	SNORA31	ATRX	NLRC4	HLA-DPB1	MYD88	XIAP	SH2D1A	TNFRSF13C	RFXAP	KLRC4	ARPC1B	CIITA	NLRP3	TOM1	CD40LG	CD19	DBR1	HLA-DPA1	C8B	CXCR4	CR2	IGLL1	UBAC2	RAG1	P4HA2	TICAM1	SPI1	IL12A-AS1	ENG	NCF4	FAS	IRF3	CD79A	SLC6A19
HP_UNUSUAL_SKIN_INFECTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNUSUAL_SKIN_INFECTION	CARMIL2	NCKAP1L	IKBKG	CARD9	PGM3	MVK	DOCK8
HP_SEVERE_INFECTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_INFECTION	IGKC	NCKAP1L	IKBKG	FOXP3	CD27	CXCR2	LAT	STAT1	SASH3	TGFB1	STAT2	DOCK2	PRKCD	PGM3	SNORA31	DEF6	XIAP	SH2D1A	KLF1	MCM10	IL7	ZNFX1	HYOU1	DNASE2	IL7R	IGHG2	IRF7	PIK3R1	TBK1	CD40LG	REL	BCL11A	DBR1	IL2RA	CTPS1	TLR7	IL2RB	RAC2	TET2	UNC93B1	TLR3	ELANE	RAG1	HBB	IKZF3	RAG2	HBG1	CD247	TMC8	FCGR3A	CD3D	ITK	TICAM1	TPP2	HBG2	MECP2	ADORA2A	CD3E	BLM	FCGR3B	TOM1	IRF3	CD70	PRPS1	MAGT1
HP_SEVERE_VARICELLA_ZOSTER_INFECTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_VARICELLA_ZOSTER_INFECTION	RAC2	DOCK2	BLM	PGM3	FCGR3A	CD70	IL2RA	CTPS1	SASH3	MAGT1	TGFB1	CD27
HP_ABNORMAL_CIRCULATING_GLOBULIN_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_GLOBULIN_CONCENTRATION	PLG	B2M	RFXAP	ALB	SERPINE1	RFXANK	CIITA	RFX5	TF
HP_ABNORMAL_CIRCULATING_METABOLITE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_METABOLITE_CONCENTRATION	SDHB	CACNA1S	TNNC1	VPS37D	SDHD	SPATA5	ABCC9	KIT	USP53	LIPA	UBA1	ZNF699	CPT2	TERT	AVPR2	SLC41A1	ALG1	SLC51A	POMP	PRKAR1A	SGCG	FKRP	CLCNKA	ACTN2	CFB	STEAP3	VMA21	GP1BB	GNAS	HCFC1	SLC39A8	IL1RN	KCNJ5	SORD	TPM2	CNBP	DBH	TNFRSF11A	DYSF	COL6A1	CAMKMT	MAX	RFXANK	RINT1	ANKRD1	HNF1A	HNF1B	COL6A2	SGCD	PRPS1	JAG2	POLR3A	SLC3A1	TPO	CPT1A	ASS1	POMT1	HSD17B4	LBR	BCKDHA	PRTN3	ACADM	FDX2	NDUFA13	LEPR	POMT2	GLRX5	FBP1	UGT1A1	NLRP12	FKBP6	NDUFA1	FLII	MGME1	SLC12A1	VPS33B	MYPN	MT-ND6	IL12RB1	ABHD5	HSPG2	POMGNT1	MT-ATP6	MSMO1	PAX2	PYGM	KCNN4	OTC	PIK3R5	TTN	KIF1B	SMARCAL1	CHD7	HBB	COL4A3	RAI1	CLCN2	TDP1	CDC73	IRF6	MPI	KCNJ11	SCN4A	SLC4A1	PEX2	POMGNT2	MPC1	MOCS1	NNT	PLA2G7	ASL	CAVIN1	BICD2	SLC6A6	GNA11	TFR2	CRPPA	GNAS-AS1	NR1H4	HLCS	CLDN19	SLC25A4	TANGO2	TNFSF11	SCNN1B	NGLY1	FAH	GUCY2D	MYH7	PKLR	ATP7A	VHL	CSF2RA	RFX5	CFHR1	CAV3	GALNT2	COX20	INPP5K	IL37	PKHD1	BAG5	SAMD9	RHCE	FARSB	UBE3B	SLC30A2	TBK1	ITGA7	SGCB	UMOD	KCNJ18	INSR	THRB	XRCC4	DAG1	CRYAB	NR4A2	TBX1	SLC7A7	ALDH4A1	NDUFS1	MRPL3	BMP2	RYR1	HAL	OCRL	TK2	ALDOB	DNAJB11	GMPPB	BCAT2	NR3C2	VCP	PIEZO2	ETFDH	WRN	PRSS1	BSND	EIF4H	MTRR	MMAB	CPOX	GCH1	PEX11B	SLCO1B1	HAMP	NEFL	PDSS2	CBLIF	CARD10	SLC34A1	FAM111A	CSRP3	FLNC	CD2AP	PITRM1	MAT1A	ANK1	NDUFAF3	RFX6	MRPS2	MC2R	TBX5	HADHA	POMC	DUOX2	LMNA	TRAPPC11	KCNA1	PEX12	SLC25A42	FDFT1	FKTN	GSR	TRIO	LYRM7	ETHE1	GPIHBP1	EIF2AK3	CBS	SH2B1	HMOX1	CAP2	MMACHC	POLRMT	TMEM43	CREB3L3	ZNRF3	CLCNKB	SLC26A4	PFKM	C19orf12	RACGAP1	MYMK	ZMPSTE24	GATA1	EMD	SYNE2	METTL27	TKFC	MT-ND5	ITGB2	CD244	TSHR	AIFM1	ADAMTS13	HFE	NEFH	INPPL1	NDUFS4	GLA	PAX8	ARHGDIA	IL36RN	GCK	LIPT2	UCP2	PTPN22	CASQ1	MEF2A	UROS	HADH	PEX1	ADK	ARG1	GCDH	FOXI1	PMM2	PDX1	CRB2	CP	NUP37	PLIN1	TICAM1	XIAP	GPR35	GCSH	NCF1	TKT	AFP	TBCE	ABCD1	CEL	ANKFY1	PLN	COX6A2	PTPRO	PPARG	DMD	TFG	AHCY	PIGH	NT5E	LMAN1	DLD	CHKB	DNAJB6	EPHX2	CYP7B1	MED12	RASA1	MLXIPL	NDUFB9	ERCC4	TIA1	ACAD8	MPO	PIGN	POMK	DYRK1B	MOCS2	CDH23	AGL	ALG6	BMP6	NDUFB3	WDR19	HNRNPA1	ITGB4	PSMB10	PEX19	NEB	NDUFS2	CD55	SCO2	SGPL1	ALG2	LAMB3	NDUFAF5	HLA-DQB1	AASS	HIRA	ATP5F1D	DSG2	AEBP1	RHAG	MT-ND3	HSD17B10	FLT1	FGFR3	SERPINA1	LMBRD1	SKIC2	MT-TL2	ARVCF	NSMCE2	CIDEC	ALAS2	MT-TP	SECISBP2	LAMA1	SLC2A2	NUP107	GNE	TMPRSS6	GFER	KLHL41	AP2S1	ALDH7A1	STIM1	DPAGT1	PLCE1	DPM1	GALK1	LIPT1	MYOT	SUGCT	UBE2A	MMP1	MMEL1	RNF168	ABCD3	SCNN1A	PAPPA2	MEFV	ALG8	MT-TW	TYMP	NRAS	DEF6	ATP6V0A2	FXYD2	ACADVL	SQSTM1	MATR3	ADA2	ARPC1B	AKAP9	NLRP3	GPD1	HAND2	ABCB4	ATP1A1	EHHADH	ATP8B1	POLG	SLC34A3	PDP1	ELP1	LARGE1	RAF1	TRMU	SPTB	GLUD1	SLC51B	BCS1L	SC5D	COX5A	CYP11A1	WDR4	CFI	FHL1	NDUFB10	SLC40A1	C2orf69	PC	SLCO1B3	ABCC2	DEAF1	DPM3	IFNGR1	PSAP	TRMT10C	RAB27A	ACADS	THBD	AKR1D1	DNA2	PLG	CTNS	PDHX	SLC25A15	COQ7	PCCB	PLEKHG5	RAG1	CELA2A	PBX1	FAM111B	PSAT1	UQCRC2	SCO1	MCCC1	RREB1	CALM3	WT1	PCBD1	PANK2	NUBPL	MT-TN	CYP19A1	TJP2	ALG12	KBTBD13	BLK	NDUFC2	MTX2	SLC6A8	NDUFS7	IYD	ABCC8	NSUN2	MAGI2	TMPO	SLC25A38	NUP205	TXNRD2	CPA1	LDB3	SERPINE1	SKIC3	CAPN3	ETFB	HNRNPDL	CYP27B1	FOXP1	FARSA	LACC1	ANO5	CTNNB1	TRPC6	MARS1	APOB	GAMT	CHCHD10	PLEC	HMGCL	ERCC6	BAG3	GPX1	MT-TE	TPM1	ENPP1	RET	IL6R	MYH14	COL6A3	POU2AF1	NPHS1	KCNJ10	SPTBN1	PTH1R	CFHR3	ADSS1	NOS1AP	AP1S1	STXBP2	MYO5A	MPV17	PRF1	PRUNE1	NDUFV1	ISCU	COQ2	ALAD	TNNI3	PDE8B	KLHL9	UROC1	KRT5	CYP11B2	COL9A3	TMEM126B	DMP1	MYC	TNNT2	DGCR8	COQ8B	PGK1	COG4	LIG3	LPIN1	PNPLA2	PIGY	FN1	TCF4	CLCN7	ATP6V0A4	STAR	MT-TV	ITK	NDUFAF1	PPOX	TMPRSS15	POR	HJV	ELN	SVIL	TNFRSF11B	HLA-DQA1	RAG2	AMACR	AKT2	ATP6AP1	HMBS	SLC4A4	LPL	B4GAT1	GGPS1	AP1B1	ABCG5	APTX	POGLUT1	MCEE	IFNG	SNX10	SQOR	PIGT	MLIP	CRLF1	NAA10	DGUOK	PPCS	BMPR1A	STK11	TTR	BSCL2	APOA1	SEMA4A	PEX14	G6PC1	LAMA4	SIL1	COX8A	CNNM2	NFKB2	ANK2	GYPC	PLVAP	NDUFS6	MEN1	MUC1	LYST	NDUFA6	CACNA1C	SLC22A12	BTD	PSEN1	SLC2A9	SCNN1G	TF	PCSK9	LEP	MMUT	FAN1	NDUFAF4	PEX26	MPDU1	UNC93B1	ABCG8	SCN5A	AMT	PCK1	POLG2	HPRT1	PNP	CYC1	RHD	IARS1	GLYCTK	MOCOS	PKD2	HNRNPA2B1	PDGFRB	FOS	MYO5B	PHKA2	RFXAP	CCBE1	CASR	FAT4	TRIM32	TBC1D8B	SLC25A20	STX16	PREPL	TRHR	PABPN1	GATM	NPPA	HLA-DRB1	PSMB9	FBN1	MMAA	EBP	UQCRFS1	PAX4	VPS13A	PRODH	COL12A1	CC2D2A	DNM2	TIAM1	SAR1B	ALPL	TMEM70	MIEF2	CA12	CFTR	FKBP14	GAPVD1	MYH6	FTCD	DHCR7	PSMB8	SYK	TBCD	TALDO1	PEX16	KIF23	COG8	NADK2	NF1	SLC25A13	MTR	SPTA1	MT-ND4	GTF2I	MYBPC3	GHR	DOLK	SLC22A4	PCYT1A	PIEZO1	PIK3C2A	SERPINA6	PHKB	HHAT	ABCC6	PIK3CG	B2M	ALMS1	MT-ND2	GFPT1	ATP6V1E1	TSFM	ELF4	TLR3	PRKCD	GNPTG	KARS1	CAV1	IFT172	TBX19	SUCLG1	FOXRED1	KRT18	ALDOA	LRP5	APOE	DMGDH	FLAD1	PDHA1	POPDC3	NLRP1	DNM1L	DCLRE1C	SEC61A1	APOA5	SARDH	PDE4D	FECH	SLC9A3R1	HSD3B2	LCAT	PPP1R17	LDHA	KCNE1	CASK	TUFM	MYO1E	LAMC2	CD320	DIO1	KL	CACNA1D	NAB2	RPIA	PEX7	PLXNA1	DNAJC21	COG7	GTF2IRD2	PHEX	LIMK1	PLAU	LAMP2	PSTPIP1	OTULIN	CDKN2A	LMOD3	MT-TL1	MIF	DCAF17	TMEM127	TMEM270	SEMA4D	BICC1	TRDN	ALG14	NUP160	RTL1	PYGL	LIPC	ORAI1	SMAD4	CLCN5	PRKCSH	ALG9	AGPAT2	DNAJC19	NBAS	MT-CO1	INVS	GABRA3	FOXP3	YARS1	ACAD9	MTMR14	TREX1	ZBTB20	LRP12	DES	OTX2	SERAC1	STAT6	ETFA	FHL2	B3GALNT2	MT-ND1	ADAMTS3	DNMT3A	SETD2	MT-TK	GNPTAB	ABCB11	CDKN1B	APPL1	IFIH1	TCIRG1	MAGED2	CCDC115	CUL3	PLA2G6	PEX3	LIMS2	SMCHD1	COX16	FTL	ATP7B	SLC39A4	CFL2	SLC10A1	VPS33A	TWNK	KCNJ2	CSF2RB	CYP11B1	PEX5	VIPAS39	TOR1AIP1	PCCA	GIPC1	CLDN10	ERGIC1	MKS1	MTHFR	IGF1	BVES	PHKA1	KLHL3	SCN4B	FGFR1	PEX6	RNU7-1	TTPA	TMTC3	SLC37A4	NDUFV2	COL4A1	ACTN4	IL12A	GOSR2	SLC30A9	PET117	GALT	PKD1	ABCB6	USB1	SDHA	GATAD1	SLC26A3	COA7	DPM2	LAMA2	NUP214	DHX16	PPM1B	SLC12A3	NOS3	MAD2L2	GCM2	IL6	COG2	SRP54	NEUROD1	NUP93	COX10	SLC33A1	RRM2B	MCCC2	GOT2	FLI1	ENO3	GK	SLC25A11	MEG3	EPAS1	DSP	TCAP	CYP24A1	GATA3	CCT5	CARD9	BAZ1B	CCND1	SLC35A2	LMF1	SEC24C	ATAD3A	PEX10	MICU1	SMPD1	NPHS2	DBT	NLRC4	SH2D1A	EFL1	MMADHC	IL10	APOC3	KLF1	PSPH	AGXT	PHKG2	APRT	SLC22A5	SNTA1	ALG11	PRDX1	HINT1	RBM20	LDLRAP1	FLCN	HK1	C3	APOA2	AIP	PNPO	CIITA	ARNT2	TMEM260	UNC13D	NR3C1	ASPA	ANGPTL3	ACTC1	PAH	ANLN	TSHB	COL3A1	CARS2	QRICH1	IRF8	PEX13	CSF1R	PRSS2	HAVCR2	CPS1	TAF1A	SGCA	GNMT	QRSL1	SYNE1	AQP2	POLD1	EPB42	NDUFS8	GLS	TP53	INS	BCKDHB	OSTM1	ABCA2	ERCC8	IRF4	TFAM	DGCR6	NAGS	JAG1	FH	STX11	BCL7B	PNLIP	HSD3B7	HSD11B2	SETX	GPHN	COL7A1	TRIP4	APP	FAM20C	INF2	AP5Z1	NR0B1	PDK3	WDR73	KRAS	SEMA7A	MSTO1	SLC25A26	MRPS7	DSG1	CDKN2C	TARS2	LRP6	SYNJ1	DUX4	DGCR2	MPZ	GLDC	GAA	B4GALT1	C1QBP	OSGEP	FGF23	CETP	NDUFAF8	EPB41	DTYMK	RILPL1	ODC1	SLC29A3	G6PD	TRAPPC2L	COQ9	PNPLA8	LDLR	MTO1	ALDH6A1	ABCA1	DGAT1	SBDS	KLF11	FOCAD	SDHC	HNF4A	NFKBIL1	GATC	BUD23	NFS1	RPS20	CAD	PYROXD1	IGFALS	LONP1	CORIN	NDUFAF6	NDUFS3	NOTCH3	MICOS13	PIGA	VCL	LIPE	TTC26	SCYL2	GALM	ZNFX1	WDR35	MDH1	SEC63	SLC2A1	LAMA3	JMJD1C	GYS2	COPA	TNFRSF1A	RNU4ATAC	DHCR24	SPR	SUCLA2	ACAT1	NUP133	HRAS	BAAT	SLC52A1	BTNL2	TBCK	CYP3A4	IFT122	ABCD4	GATB	FBXL4	MC4R	HTT	DLK1	MYL2	CFH	TMEM67	ACTA1	CNOT1	NARS2	OAT	HPD	DZIP1L	ATP6V1A	COX6B1	TRNT1	SPIB	TIMM22	GALE	KCNJ1	SUOX	ALDH5A1	EGF	KCNQ1	WNK4	BLVRA	SLC30A10	FRG1	XK	LTBP4	NDUFA11	HLA-DPB1	KCNE2	CYP27A1	DUOXA2	APC2	MECP2	DOK7	IDH2	PHYH	TAT	RNASEH1	MTTP	CEP19	IMPDH2	CLIP2	NPHP1	XDH	CYP17A1	GYG1	ALB	TRPM6	TMEM165	MT-TI	VPS50	RXYLT1	CYP2R1	PUS1	NDUFAF2	WNK1	UROD	GNB2	LTC4S	MDH2	PRDM16	TG	MRAP	PGAM2	NSD1	KCNE3	CTRC	TRAF3	PTS	UNC45A	PLA2G4A	COMT	RMRP	ACOX2	SLC6A3	ATM	SLC5A1	MCM10	COL25A1	KLKB1	LAMB2	NFU1	CDKN1A	ARMC5	DPYS	UQCRH	HLA-DPA1	ZPR1	PET100	MTHFD1	KRT14	USP8	VDR	DLST	PHGDH	MT-TF	ITGA3	CLDN16	MT-CO3	MIPEP	AR	VARS2	TRPV4	RSPO1	TDP2	SCN10A	ADCY3	GTF2IRD1	DCXR	APOC2	PTH	CD46	CDKN2B	HEXB	SLC34A2	NFE2L2	CTLA4	KY	NOS1	GLUL	EMP2	CALM1	STING1	IQSEC2	APOL1	SLC19A1	SLC39A14	UBR1	CTH	DNMT3B	SARS2	GALNT3	PDHB	RFC2	REN	SLCO2A1	RBCK1	TBL2	GEMIN4	TBL1X	MET	NOTCH2NLC	MRM2	TNPO3	QDPR	ITPR3	ISCA1	PGAP2	CA5A	TNFSF15	BIN1	EPG5	KCNH2	STX1A	STAT2	CYP7A1	SLC17A5	DNAJC30	ESS2	DCDC2	LMNB2	CALM2	BCKDK	BTK	ACAT2	FTH1	L2HGDH	SPINK1	TIMMDC1	GANAB	TMEM199	PDE11A	CDAN1	BCL10	BOLA3	KIF12	MCFD2	NEXN	COG6	NHLRC2	IL6ST	PTEN	IRF5	ATP5F1A	SLC5A5	PPM1K	ALG5	TAFAZZIN	PSEN2	MST1	PRKACA	NUP85	KYNU	MYF6	MVK	SLC16A1	TPM3	PSMB4	SLC2A3	ANXA11	STOX1	CDKN1C	HADHB	NSDHL	PGM1	OTUD5	NDUFB11	IFT140	ACSF3	MRPS14	CA2	UFD1	ARHGAP24	PAFAH1B1	SDHAF2	DAAM2
HP_ABNORMAL_PROPORTION_OF_MEMORY_T_CELLS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PROPORTION_OF_MEMORY_T_CELLS	PIK3CG	NCKAP1L	BCL10	SASH3	TCF3
HP_ABNORMAL_CIRCULATING_FREE_T3_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_FREE_T3_CONCENTRATION	SECISBP2	TRHR	THRB	MADD	POU1F1
HP_PERINUCLEAR_ANTINEUTROPHIL_ANTIBODY_POSITIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERINUCLEAR_ANTINEUTROPHIL_ANTIBODY_POSITIVITY	DNASE1L3	CTNNB1	BACH2	ARPC1B	DEF6
HP_HYPOCHROMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOCHROMIA	SLC11A2	RHAG	SLC25A38	RHCE	RHD	UMPS	STEAP3	HBB	GLRX5
HP_ABNORMAL_TISSUE_METABOLITE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TISSUE_METABOLITE_CONCENTRATION	KLHL41	CACNA1S	PEX19	GAA	MCOLN1	ARSA	PFKM	PEX2	PEX11B	ISCU	COQ2	PHKA2	PEX13	TPM2	MT-CO3	CPT2	PEX12	ABCD1	PSAP	PEX10	AFG3L2	SUCLG1	CCDC115	SELENON	STEAP3	CHCHD10	NDUFS4	PEX3	ENO3	FOCAD	KCNJ18	NEB	GYG1	PEX1	PEX5	KCNE3	LPIN1	PNPLA2	KHK	GM2A	FARS2	COL6A3	COQ8A	HEXB	GYS1	COL12A1	CP	KBTBD13	PEX6	SCN4A	MYH7	HSD17B4	SLC30A10	GLRX5	NDUFA4	TTN	PEX14	SURF1	PEX16	GLA	TPM3	COX6A2	MT-TN	ACTA1	PIGA	COL6A2	PHKA1	ABHD5	ZFHX4	PHKG2	PYGM	SDHA	SLC22A5	HBB	MYPN	PEX26	ACOX1	MSTO1	COL6A1	SLC51B	PHKB	MT-TE	COL25A1	BMP6	BCS1L	TRMU	MT-CO1	GABRA3	ACBD5
HP_ABNORMAL_METABOLISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_METABOLISM	DPM2	STT3B	DLAT	MGAT2	CYP3A4	ELN	IARS1	CYP27B1	ABCD4	CYP7B1	COG2	MMACHC	SPTBN1	AMN	B4GALT1	ATP6V1E1	FAS	COG5	STT3A	SAR1B	ZNF699	BCO1	CLCN5	ALDH18A1	GALNT2	DPM3	SLC2A2	DDOST	SLC35A2	ATP6AP2	ALG11	SSR4	SRP54	ABCD1	ALDH6A1	TMEM199	LMBRD1	FBLN5	DZIP1L	SUCLG1	ATP6V1A	RNF13	SBDS	EDEM3	CCDC115	MTRR	FARSB	DOLK	ENPP1	DMP1	RASGRP1	COL7A1	ATP6V0A2	HCFC1	FOCAD	SLC39A8	TAT	COG4	CTNS	TTR	ALG2	COG1	GUCY2C	RFT1	ALG6	TCF4	PMM2	GATA1	COG6	KHK	ALG3	MMAA	UROS	ERCC4	CAD	MAGT1	SLC10A1	DPM1	ALDH4A1	SIM1	RPL11	TJP2	CUBN	ACOX2	PTH1R	HLA-DQA1	HLA-DQB1	AMACR	CCND1	ATP6AP1	GPR35	ERCC5	MST1	SLC30A10	FTCD	MMP1	PRKCD	CD320	KL	ALG8	GALM	DNAJC21	CASP10	SLC19A1	MMAB	COG7	ALG1	SRD5A3	APOB	AGA	MAN1B1	EFL1	MMADHC	CBS	COG8	CBLIF	DPAGT1	FASLG	TTPA	OCRL	ALDOB	SEMA4D	MTR	SLC46A1	ERCC2	SLC34A1	SLC37A4	PRDX1	AKR1D1	PGM1	OTUD5	ALG13	SLC34A3	LRP5	CYP2R1	MPI	MTTP	GRM7	SUCLA2	PKHD1	RPS10	ACSF3	MPDU1	GALT	SLC52A1	FKTN	ERCC3	MTHFD1	MMUT	SLC51B	FGF23	VDR	CYP7A1
HP_PERSISTENT_CMV_VIREMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERSISTENT_CMV_VIREMIA	PIK3R1	IL2RB	REL	LAT	TPP2	MAGT1
HP_ABNORMAL_IMMUNE_SYSTEM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_IMMUNE_SYSTEM_MORPHOLOGY	FOXP3	F13A1	TNNC1	ANKRD26	MECOM	TRNT1	ABCC9	BRCA1	BCR	LIPA	DES	KLHDC8B	ZNF699	STK4	FHL2	RNASEH2C	TET2	GPI	TERT	ADAMTS3	PTPN11	RMRP	SETD2	DNASE1	POMP	SGCG	LAMTOR2	FCHO1	AP3D1	TP53	MSH2	THPO	NPC2	ASXL1	JAK2	ACTN2	CYP26C1	MYD88	RASGRP1	ADH5	ADA2	IL1RN	RAC2	RPS28	DOCK6	NFKB1	RFXANK	FANCC	TINF2	UNC119	ANKRD1	VPS33A	PALB2	HAVCR2	FCGR3B	RNASEH2B	BLOC1S6	MAGT1	RPS29	CREBBP	LZTR1	BRCA2	LRBA	NOTCH1	RPL35A	PRTN3	TRIP13	SCN5A	USP8	MLLT10	FDX2	RPL26	PIK3R1	LEPR	PGM3	TBXAS1	IL6ST	NLRP12	XIAP	FOXN1	RFXAP	GINS1	MYPN	APC	LBR	ABHD5	CTSC	CD8A	REL	OTULIN	MAD2L2	SMARCAL1	SLC37A4	CHD7	ACP5	HBB	CTNNBL1	SLC35A1	NUP214	MMUT	BRIP1	DNMT3A	USP48	USB1	MPL	EFL1	CD19	SPI1	PNP	GATAD1	PTEN	TOM1	TFR2	JAK3	SPRED1	IGKC	PIK3CD	DUT	CASP10	IKBKG	CARD11	TLR7	PTPRC	NCF1	CBL	CLPB	ADA	RFX5	FKTN	IFIH1	NBAS	RAG1	NBN	FUCA1	KRAS	SRP54	IL37	PKHD1	BAG5	SAMD9	TBK1	BCL10	RBPJ	ZBTB24	ZAP70	STAT3	DSP	RARA	RB1	TCAP	FANCI	CSF3R	CRYAB	MPEG1	SDHA	SP110	LSM11	TRAC	TLR8	VPS13B	CDKN2A	SLC7A7	IGHM	CARD9	RPS15A	PARN	ZNF341	BTK	NCKAP1L	WDR1	MICU1	PRKCD	SPINK5	MAN2B1	SMPD1	PRSS1	VANGL1	MTRR	MMAB	GLB1	GATA1	TTI2	CD28	NLRC4	JAGN1	SH2D1A	SCN10A	FERMT3	CARD10	CSRP3	RUNX1	TCF3	JAK1	SAMD9L	PRDX1	FBXW7	ARHGEF1	RBM20	APOE	NUMA1	ACD	CXCR4	MSN	NLRP3	FAS	BUB1	GFI1	EIF2AK3	CIITA	NCF4	PRKACB	FCGR2B	UNC13D	LACC1	MBD4	TYROBP	ACTC1	TCN2	CAP2	MMACHC	GATA2	NF1	STAT1	IRF8	LMNB2	F13B	PRSS2	XRCC4	KIT	HYOU1	TAF1A	ITGB2	DCLRE1C	CD79A	TGFB1	CEBPE	TONSL	GJB2	CD3E	SLC17A5	RAG2	G6PC3	BUB1B	TNFRSF1B	IL36RN	OSTM1	IL17RA	TAL2	BCL11B	UROS	IL2RG	TPP2	PMM2	GTF2H5	AP3B1	PRKAR1A	STX11	TICAM1	LMBRD1	SLC46A1	RAB27A	HLA-B	MYSM1	LAT	ICOS	BAX	PLN	SLC27A4	NCF2	DMD	SPP1	PTPN22	FASLG	RABL3	CLN3	IL10RB	TBX21	DKC1	RNU4ATAC	BRD4	ETV6	NEU1	TTC7A	CR2	RPL18	TNFRSF13B	XRCC2	ENG	RPL31	CD3D	MYH7	WAS	ERCC3	NSUN2	TBX2	SGPL1	BLNK	RNASEH2A	NABP1	IFNG	STAT2	RPS19	SLC29A3	G6PD	FCGR2A	LPP	SALL4	DSG2	IL10RA	SETBP1	EVC2	SBDS	SKIC2	CYBB	CTPS1	FOCAD	IKBKB	BRAF	NPM1	PALLD	LMNA	SLC35C1	NR3C1	FANCF	TAFAZZIN	GLI1	ELANE	CARS1	CD79B	CTLA4	TYMS	CUBN	DOCK8	MAP2K1	RPS20	CDSN	RNF113A	NFKB2	SH3GL1	CD27	PIGA	UBE2A	FANCM	VCL	LPIN2	MEFV	SASH3	RPS17	DEF6	ATP11A	SMARCD2	ZNFX1	AMN	DNASE2	SAMHD1	ARPC1B	ADAR	CD81	CD40LG	HAND2	IL2RA	CD3G	TNFRSF1A	FANCE	IGLL1	LDB3	FANCG	ANAPC1	ACAT1	WIPF1	RAF1	TNFSF12	CALR	BTNL2	TBL1XR1	CEBPA	FGF23	RPA1	MDM4	EOGT	EXTL3	IRF2BP2	FANCB	ABCD4	FBXL4	UBE2T	FIP1L1	IFNGR1	HAX1	PRF1	IPO8	DOCK2	IDH1	CYBC1	RPS24	TERC	PIGL	IL7R	NSMCE3	CASR	STAT5B	MNX1	RPS27	CD4	HMGCL	LIG4	RECQL4	IKZF3	TCIRG1	CD247	RTEL1	DNMT3B	MYH9	PNPLA2	PCCB	DDR2	SOCS1	TMPO	ERBB3	KNSTRN	HLA-DPB1	FNIP1	IKZF1	CPA1	KIF11	RAD51C	CTC1	GTF2E2	APC2	IRAK4	CAPN3	FANCA	PCCA	LCK	CDH23	SCARB2	FCGR3A	BCOR	BAG3	RFWD3	TPM1	IL6R	PML	ASAH1	ATRX	BUB3	SREBF1	TMEM147	STAT4	DLX3	STXBP2	DDX41	LYST	SKIC3	ISCU	CARMIL2	ALAD	POT1	TTN	WRAP53	TNNI3	PRDM16	CASP8	TAL1	IL7	SRSF2	SPRED2	ALG12	GSS	CDCA7	DMP1	MYC	NSD1	TNNT2	VPS45	ARHGAP31	GBA1	CTRC	TRAF3	PI4KA	HELLS	ITK	SLC39A7	MGAT2	BLM	SH2B3	LCP2	AK2	ATP6AP1	RPS7	EP300	FUT8	RIPK1	IRAK1	ATM	NTRK1	CORO1A	PPCS	ERCC4	MCM10	LAMA4	ABL1	PSENEN	CLCN7	FLT3	NDUFA6	HLA-DPA1	ZPR1	PSEN1	GNB1	PICALM	RHOH	LEP	NHEJ1	MTHFD1	UNC93B1	LIG1	CD70	DCLRE1B	TREM2	TFRC	SF3B1	NUTM1	CD40	RPS26	HSCB	FANCD2	PDGFRB	CCBE1	RNU7-1	FAT4	ATP6AP2	PPIL1	ERCC6L2	DLL4	IL21	MLH1	ENPP1	TDP2	NHP2	H4C9	HLA-DRB1	NOP10	CYBA	PSMB9	MMAA	RPL15	RPL11	PDGFRA	RPL27	CFTR	CHIC2	MYH6	STING1	TREX1	FTCD	PLCG2	MPLKIP	SYK	BACH2	SLC19A1	ABCB4	SARS2	STS	ARHGAP26	RPS10	RBCK1	SCN11A	SCN9A	PACS2	RRAS2	MYBPC3	AGA	MCM4	EPG5	TXNRD2	RPL5	PIK3CG	B2M	CEP57	HTRA2	OAS1	MVK	ZBTB16	ELF4	SGCD	TLR3	TNFAIP3	FMO3	SPINK1	COG4	DOLK	RBM8A	ACVRL1	IVNS1ABP	TARS1	TSR2	NRAS	IL2RB	ITCH	NLRP1	PRIM1	DNAJC21	CDC40	MDM2	NEXN	NHLRC2	SEC61A1	LRRC8A	IVD	GJB6	PSEN2	CASK	ERCC2	PIK3CA	CAMK2B	SMAD4	CXCR2	CHEK2	SLX4	TNFRSF13C	NPC1	PSMB4	PHEX	FANCL	PSTPIP1	MS4A1	IGHG2	RPL35	OTUD5	RPS14	DYNC2LI1	RAD51	FIBP	CA2	EVC	PRKACA
HP_GRANULOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GRANULOMA	PIK3CG	DOCK2	CYBB	NF1	DNASE2	IRF8	CYBC1	ACP5
HP_OPPORTUNISTIC_FUNGAL_INFECTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPPORTUNISTIC_FUNGAL_INFECTION	CD40LG	STAT1	CARD11	PIK3CD	IL17RC	IKBKG	IL21R	IL12RB1	TLR8	TGFB1
HP_OPPORTUNISTIC_BACTERIAL_INFECTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPPORTUNISTIC_BACTERIAL_INFECTION	IGKC	GSTM3	CFTR	IKBKG	HFE	IL12RB1	TGFB1	CLCA4	EDNRA	SLC11A1	CYBB	SERPINA1	SLC26A9	GCLC	MPEG1	CEACAM3	CEACAM6	STX1A	SLC9A3	SLC6A14	KCNN4	ZNFX1	MIF	DCTN4	IGHG2	HMOX1	ZNF341
HP_INCREASED_BLOOD_PRESSURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_BLOOD_PRESSURE	EOGT	CIDEC	CYP11B1	BBIP1	SDHB	CFI	VPS37D	B2M	SDHD	TREX1	MC4R	FOXE3	MT-ND6	FGFR2	VHL	TET2	IDS	LIPA	JAK2	CFH	TERT	AVPR2	TMEM67	SCNN1G	CEP19	DNMT3A	CYP17A1	MT-TK	TGFB2	HFE	MT-TC	MAX	THBD	CDKN1B	IFT140	ENPP1	IFIH1	BRCC3	DZIP1L	ASXL1	SHPK	CFB	COQ7	RET	SPIB	CUL3	CELA2A	PBX1	NPHP1	GP1BB	MAT2A	NPHP3	FH	BBS5	KCNJ5	ECE1	FBN1	TNFRSF11A	DOCK6	ERCC4	RREB1	ENG	APOA1	PTGIS	XPNPEP3	THSD1	PKD1	MT-CO1	WNK4	MLXIPL	ALMS1	ARMC5	CALR	LOX	BMPR2	NOTCH1	PRTN3	DST	WT1	LYZ	MTTP	SPRY2	USP8	ABCC6	COL4A3	GLA	TGFBR1	MAFB	ZFYVE19	ERCC8	MT-ND5	TBX1	GNAS	HLA-DPB1	FKBP6	KLHL3	TGFBR3	ANGPTL6	IL12RB1	RNU7-1	CCND1	DNAJB11	HEY2	FN1	KIF1B	SMARCAL1	WRN	SLC37A4	MT-TS2	TRIM28	MMP14	CLCN2	MT-TW	IL12A	TRIP13	SLC30A9	SLC2A10	GNB3	CDH23	TRAF3IP1	IMPDH2	BRCA2	CLIP2	DCDC2	CEP164	ABCB6	USP48	MPL	CC2D2A	SDHA	ERCC6	NKX2-5	LMNA	TGFBR2	GATA5	BBS2	SOX10	POU2AF1	BMP6	F5	WNK1	SCNN1B	TLR7	CFHR3	EXT2	MYH7	CCN2	NR3C2	NEUROG3	EDA2R	CFHR1	TMEM127	GNB2	KCTD1	CYP3A5	MDH2	PDE8B	IL12B	MLX	CAV1	MT-TL1	PKHD1	FGA	CYP11B2	OFD1	PRKAR1A	FARSB	WDR19	NDUFAF6	PDE3A	SMAD6	RBPJ	ARHGAP31	SLC25A11	EPAS1	APOB	CD2AP	TCF4	SCNN1A	IRF5	APRT	FMR1	SP110	NR4A2	PPOX	VAC14	COMT	POR	INF2	BAZ1B	GBA1	HBB	ELN	CCDC28B	TNFRSF11B	PAX2	GIMAP5	GANAB	MPI	SLC35A2	LEMD3	FUZ	DGUOK	CACNA1D	NOTCH3	SEC24C	HMBS	SLC30A10	ABCG5	IFT27	ATRX	RPGRIP1L	PRKACA	ABCG8	EIF4H	LARS2	MTRR	HLA-DRB1	TTC8	ADA2	SUGCT	MFAP5	G6PC1	BSCL2	ADAMTSL4	CBS	LAMB2	PAM16	LMX1B	CDKN1A	SCAPER	PRKG1	CEP290	MEN1	MUC1	SDHC	BBS4	PIGM	HLA-DPA1	EDA	ELP1	GPR101	SRSF2	C3	BNC2	AIP	ALG5	DLST	LBX1	NR3C1	GJA1	ITCH	HMOX1	ACP5	MT-CYB	LDLRAP1	ZNRF3	COL3A1	PKD2	STAT1	MYMX	STN1	TJP2	BBS10	BBS12	METTL27	INPP5E	DLL4	XYLT1	ACTA2	TP53	H19	MT-CO3	PHF21A	LZTFL1	GDF2	CPOX	H4C3	GTF2IRD1	SH2B3	NOS3	MBTPS2	MEF2A	GLIS3	SMAD4	IFNG	AGTR1	CD46	XYLT2	CDKN2B	KCNMB1	CTLA4	ACVRL1	PLIN1	VANGL1	BCL7B	GPR35	WDPCP	TMEM70	HSD11B2	MYMK	CFAP418	NCF1	BBS1	MT-TV	DHCR7	DIS3L2	MGP	ABCB4	PPARG	SDCCAG8	HGD	MKS1	RFC2	NOTCH2	GUCY1A1	POU6F2	TBL2	GEMIN4	NF1	SCN2B	SMAD2	GTF2I	MED12	TNPO3	YY1AP1	ACTG2	SERPINA6	DYRK1B	TNFSF15	CDKN2C	LRP6	REST	STX1A	STAT2	TULP3	NOD2	COL4A5	DNAJC30	MDM2	MT-TE	CACNA1H	OSGEP	TRIM32	FIG4	MYLK	HIRA	FMO3	LDLR	IFT74	FLT1	LIPE	MKKS	NPHP4	EGFR	PDE11A	KRT18	ARL6	CCR6	ARVCF	BRAF	NSMCE2	GPC3	MT-TF	KIF12	ACTN4	HLA-B	PRIM1	ZMPSTE24	GCH1	HTRA1	BUD23	NFIX	TSC1	POU3F4	MMP2	ITGA8	CTNNB1	MT-TQ	TGFB3	COL4A4	CORIN	MST1	PIGA	IFT172	CLDN1	MMEL1	ADD1	TMEM237	ABCD3	MT-CO2	GBE1	TTC26	AGT	BBS7	TSC2	GTF2IRD2	LIMK1	DEF6	BBS9	CDKN2A	MT-ND1	CBL	LRIG2	WDR35	STOX1	TRPC6	MYH11	TOM1	TMEM270	RUNX1	SEMA4D	BICC1	INVS	IDUA	JMJD1C	RNU4ATAC	ALX4	ACAT1	PTPN22	BTNL2	ALG9	PCSK9	IQCB1	UFD1	HPSE2	SDHAF2	SMAD3	CYP21A2
HP_2_HYDROXYGLUTARATE_ACIDURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_2_HYDROXYGLUTARATE_ACIDURIA	IDH2	L2HGDH	SLC25A1	D2HGDH	IDH1
HP_ABNORMAL_GRANULOCYTE_COUNT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GRANULOCYTE_COUNT	MDM4	FOXP3	PNP	UNC13D	EXTL3	IRF2BP2	WIPF1	LAMTOR2	ABCD4	TCN2	MECOM	FBXL4	TFRC	MMACHC	SF3B1	KIT	GATA2	FANCA	FIP1L1	STAT1	SAMD9L	IRF8	HAX1	STK4	CD40	DOCK8	TCF3	IPO8	RPS26	RFXAP	HSCB	TET2	FANCD2	PDGFRB	PIK3CD	IL7R	RAB27A	RMRP	RPS24	PPIL1	GATA1	AP3D1	ASXL1	TP53	STAT5B	DCLRE1C	CD79A	RAG1	GFI1	RPS27	RASGRP1	TDP2	FANCE	ADA2	TONSL	IL1RN	RAC2	RAG2	RPS28	G6PC3	RECQL4	HLA-DRB1	IL36RN	CHD7	SAMD9	BCL11B	STXBP2	MMAA	TCIRG1	CD247	RFXANK	FANCC	TERC	RPL15	TPP2	GTF2H5	AP3B1	VPS33A	IL2RG	RPL11	PCCB	PDGFRA	CD3E	PRKAR1A	ZAP70	FCGR3B	STX11	RPS29	TICAM1	IGHM	LMBRD1	SLC46A1	RPL27	VPS13B	LRBA	RPL35A	MYSM1	USP8	FDX2	MPLKIP	RPL26	PIK3R1	BACH2	MEFV	STAT3	PGM3	SLC27A4	IL6ST	FNIP1	XIAP	GINS1	LBR	RPS10	FASLG	CIITA	WAS	GTF2E2	PACS2	IRAK4	TBX21	CAPN3	TERT	SMARCAL1	SLC37A4	ICOS	PCCA	ACP5	AGA	SLC35A1	RARA	RNU4ATAC	ETV6	CSF3R	CDH23	MMUT	CD3D	USP48	BCOR	USB1	RPL18	EFL1	SPI1	EPG5	RPL31	SRP54	RPL5	TFR2	PML	ELANE	PIK3CG	ERCC3	CASP10	FAS	ATRX	SREBF1	IKBKG	CARD11	BLNK	HTRA2	MAD2L2	CLPB	ADA	RFX5	NABP1	PRF1	LYST	MVK	ZBTB16	IFNG	TLR3	BTK	RPS19	FMO3	COG4	SRSF2	GSS	SBDS	RBM8A	TBK1	TARS1	TSR2	VPS45	BRAF	NPM1	ITCH	LIG4	SLC35C1	NLRP1	NR3C1	DNAJC21	FANCI	CDC40	TAFAZZIN	TRAF3	CARS1	SEC61A1	CD79B	TRAC	TLR8	RPS17	LRRC8A	CARD9	CUBN	RPS15A	ZNF341	RPS20	AK2	CDSN	RPS7	ERCC2	FUT8	RNF113A	CAMK2B	WDR1	UBE2A	PRKCD	SPINK5	CXCR2	SASH3	MTRR	MMAB	JAGN1	OTULIN	SH2D1A	SMARCD2	ZNFX1	AMN	CBL	CARD10	TOM1	FANCG	RUNX1	CD40LG	NDUFA6	JAK1	RPL35	PRDX1	FBXW7	CXCR4	NLRP3	IGLL1	NUMA1	NRAS	ANAPC1	MSN	UNC93B1	BTNL2	TBL1XR1	FIBP	EIF2AK3	KRAS
HP_INTERHEMISPHERIC_CYST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERHEMISPHERIC_CYST	L1CAM	RNU4ATAC	PLCH1	DCC	CDH2	MAN2C1
HP_REDUCED_FORCED_VITAL_CAPACITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_FORCED_VITAL_CAPACITY	FKRP	CRPPA	CFTR	MCIDAS	TPM3	GGPS1	MYH7	BAG3	SFTPC	LRP12	PARN	RYR1	ACTA1	STK36	TGFB1	TPM2	RTEL1	UNC45B	SLC25A21	SYT2	NEK10	COL6A2	FCGR2A	SELENON	CSF2RA	JAG2
HP_REDUCED_FORCED_EXPIRATORY_VOLUME_IN_ONE_SECOND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_FORCED_EXPIRATORY_VOLUME_IN_ONE_SECOND	GSTM3	CFTR	ITCH	HFE	TGFB1	CLCA4	EDNRA	PARN	SLC11A1	SERPINA1	STK36	SLC26A9	GCLC	CEACAM3	CEACAM6	RTEL1	STX1A	SLC9A3	SLC6A14	KCNN4	NEK10	MIF	DNAH9	DCTN4	FCGR2A	HMOX1	CSF2RA
HP_ABNORMAL_GROWTH_HORMONE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GROWTH_HORMONE_LEVEL	MEN1	CDH23	HPGD	GNAS	AIP	PDE11A	GPR101	PRKAR1A	CDKN1B	OTX2	POU1F1	KCNJ11	IGF1	PMM2	SLCO2A1	GH1	CDKN2C	CDKN2B	CDKN1A
HP_ACIDEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACIDEMIA	ETFA	MMACHC	MMAB	MMAA	SUCLA2	LMBRD1	GCDH	ABCD4	ETFB	ACSF3	HCFC1	MMUT	IDH2	SUGCT	L2HGDH	PRDX1	MMADHC	DNAJC19	CD320	ALDH6A1	ETFDH	SUCLG1
HP_PERIVENTRICULAR_NODULAR_HETEROTOPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIVENTRICULAR_NODULAR_HETEROTOPIA	VPS35L	CPLANE1	TBC1D24	DCHS1	INTS8	ZMIZ1	ZNF292	ARFGEF2	ZSWIM6	MAP1B	ERMARD	FLNA	ARF1	FAT4	PRORP	ADGRL1	NEDD4L	CPLX1
HP_SUBCORTICAL_HETEROTOPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBCORTICAL_HETEROTOPIA	CEP85L	DCHS1	PAFAH1B1	LAMB1	COL4A2	TUBG1	FAT4	TUBB	KIF2A	TUBGCP2	EML1	CRPPA
HP_DYSGYRIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSGYRIA	LAMB1	TUBA1A	TUBB3	TUBB2B	PAFAH1B1
HP_SUBCORTICAL_BAND_HETEROTOPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBCORTICAL_BAND_HETEROTOPIA	CEP85L	DCHS1	PAFAH1B1	LAMB1	TUBG1	FAT4	TUBB	KIF2A	TUBGCP2	EML1
HP_DELAYED_UMBILICAL_CORD_SEPARATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_UMBILICAL_CORD_SEPARATION	SMARCD2	IL6ST	ITGB2	RAC2	MYD88
HP_NEONATAL_OMPHALITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_OMPHALITIS	SMARCD2	CLPB	FCGR3B	ITGB2	G6PC3	RBCK1	RAC2
HP_ABNORMAL_CIRCULATING_C_REACTIVE_PROTEIN_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_C_REACTIVE_PROTEIN_CONCENTRATION	TICAM1	HMOX1	C2orf69	CFTR	PRTN3	STING1	NLRP3	MVK	PSMB8	UBA1	PRSS1	MEFV	SYK	ELF4	TLR3	PRKCD	NLRC4	PSTPIP1	PRSS2	DEF6	HLA-DPB1	OTULIN	NLRP12	XIAP	SH2D1A	CPA1	HLA-DRB1	SPINK1	POMP	ZNFX1	MIF	ADA2	IL10	ITGB2	IL37	ARPC1B	CARD10	CD244	IL6	CASR	TBK1	CIITA	IL1RN	HLA-DPA1	LACC1	NFKBIL1	COPA	NLRP1	TNFRSF1A	CTRC	SLC22A4	IL36RN	TRAF3	IL6ST	ITK	PTPN22	UNC93B1	CTLA4	IL6R
HP_PULMONARY_CYST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_CYST	AKT1	PI4KA	STN1	SFTPC	SREBF1	YARS1	FAM13A	TTC7A	SFTPA2	TERC	ATP11A	PTEN	TERT	RTEL1	PARN	IL6ST	SFTPA1	ABCA3	DSP	DPP9	FLCN	MUC5B
HP_APLASIA_OF_THE_OLFACTORY_BULB	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_OLFACTORY_BULB	PROKR2	PROK2	SEMA3A	CILK1	ERBB3	FGFR1
HP_LONG_THUMB	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_THUMB	KCNN3	TBC1D24	NPR3	KAT6B	ADH5	PTH1R	MED12
HP_KNUCKLE_PAD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KNUCKLE_PAD	LORICRIN	KRT9	SMARCAD1	GJB2	KRT1	KRT16
HP_ABNORMAL_PULSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PULSE	XYLT2	RASA1	ABCC6	ENPP1	XYLT1
HP_ABSENT_SPERM_FLAGELLA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_SPERM_FLAGELLA	CFAP43	ARMC2	SPEF2	DNHD1	CFAP44	CFAP251	DZIP1	CCDC34	CFAP47	DNAH10	CFAP58	FSIP2	DNAH1	DNAH17	CFAP65	DNAH2	TTC21A	TTC29	CFAP91	WDR19	QRICH2	DNAH8
HP_SHORT_SPERM_FLAGELLA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_SPERM_FLAGELLA	CFAP43	CFAP70	CATIP	DNHD1	CFAP44	CFAP251	IFT74	DZIP1	CCDC34	CFAP47	DNAH10	CFAP58	FSIP2	DNAH1	DNAH17	CFAP65	DNAH2	TTC21A	TTC29	CFAP91	WDR19	QRICH2	CFAP69	DNAH8
HP_COILED_SPERM_FLAGELLA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COILED_SPERM_FLAGELLA	CFAP43	ARMC2	SPEF2	CATIP	DNHD1	CFAP44	CFAP251	CFAP47	DNAH10	CFAP58	FSIP2	DNAH1	DNAH17	CFAP65	DNAH2	TTC21A	TTC29	CFAP91	WDR19	QRICH2	CFAP69	DNAH8
HP_TAPERED_SPERM_HEAD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TAPERED_SPERM_HEAD	CFAP70	ARMC2	ACTL9	DNAH17	CATIP	TTC29	CFAP69
HP_ABNORMAL_RENAL_INSTERSTITIAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_INSTERSTITIAL_MORPHOLOGY	FOXP3	DNAJC30	BCL7B	MLXIPL	ALMS1	NPHP3	NPHP4	VPS37D	IFT122	NCF1	DCDC2	WDR19	COQ2	GBE1	CPT2	EIF4H	TMEM67	GTF2IRD2	LIMK1	PTPRO	FKBP6	METTL27	PDSS2	RFC2	REN	DPH1	TBL2	NPHP1	TMEM270	CLCNKB	MUC1	NDUFAF6	CEP83	GTF2I	SLC37A4	RPGRIP1L	CTNS	ACP5	GTF2IRD1	BSND	PUS3	TRAF3IP1	HLA-DRB1	FOXC2	SLC30A9	BUD23	FAN1	CLIP2	ANTXR1	BCS1L	MMUT	BTNL2	SLC7A7	MRPL3	ALG5	STX1A	BAZ1B	CLCN5	INVS	ELN	TULP3	PKHD1	SLC12A3
HP_HAND_APRAXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAND_APRAXIA	CDKL5	MECP2	PLP1	NTNG1	SMC1A	GABBR2
HP_SKEWFOOT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKEWFOOT	SLC1A3	SLC26A2	ATP1A2	CACNA1A	NDRG1	ATP1A3
HP_ELEVATED_LACTATE_PYRUVATE_RATIO	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_LACTATE_PYRUVATE_RATIO	TSFM	CYC1	NDUFA9	NDUFS4	SDHA	MDH2	SCO2	BCS1L	NDUFB10	GFM1	PRORP	MRPL3	PDSS1	SUCLG1
HP_STATUS_EPILEPTICUS_WITH_PROMINENT_MOTOR_SYMPTOMS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STATUS_EPILEPTICUS_WITH_PROMINENT_MOTOR_SYMPTOMS	PCDH19	KCTD7	SCN2A	TWNK	SCN9A	GABRG2	FBXO28	SLC1A2	ASAH1	PEX5	GABRA1	SLC38A3	MRM2	BRAT1	SCN1B	SCN1A	POLG	GOSR2	PDE2A	KCNC2	VAMP2
HP_FOCAL_MOTOR_STATUS_EPILEPTICUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_MOTOR_STATUS_EPILEPTICUS	PCDH19	SCN2A	TWNK	SCN9A	GABRG2	GABRA1	SLC38A3	MRM2	BRAT1	SCN1B	SCN1A	POLG	PDE2A
HP_MYOCLONIC_STATUS_EPILEPTICUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOCLONIC_STATUS_EPILEPTICUS	KCTD7	FBXO28	GOSR2	SLC1A2	ASAH1
HP_NON_CONVULSIVE_STATUS_EPILEPTICUS_WITHOUT_COMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NON_CONVULSIVE_STATUS_EPILEPTICUS_WITHOUT_COMA	SCN2A	SCN1A	SCN1B	MEN1	ODC1	GABRD	GRIN2A	CDKN2C	CDKN2B	STX1B	CDKN1B	HCN1	ADGRV1	SCN9A	CDKN1A	GABRG2
HP_GENERALIZED_ONSET_MOTOR_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_ONSET_MOTOR_SEIZURE	SCN2A	SCN1A	PHGDH	TSEN2	MT-TF	UBE3A	SPATA5	CDKL5	GABRD	CILK1	KCTD7	PURA	CACNA1A	CACNB4	MT-ND1	SIK1	ALDH5A1	SETD2	NECAP1	PDX1	KCNQ2	SCN1B	STX1B	MT-ND5	GRN	ELOVL4	SATB1	SLC25A15	EPM2A	GLB1	SCN9A	PCDH12	MT-TL1	MED13	ASAH1	AP2M1	NDE1	SLC25A22	KCNQ3	DNM1L	NARS1	DNM1	GNAO1	GRIN1	MFSD8	DPAGT1	MT-TK	ADGRG1	EEF1A2	PCYT2	NEXMIF	CARS2	TRIM8	GPHN	GRIN2A	GAMT	GABBR2	GBA1	PRRT2	GABRA5	NGLY1	PCDH19	GALC	TBCD	TSEN54	PIGQ	KNSTRN	KCNT2	PIK3CD	SLC12A5	ARX	NEU1	DMXL2	DYRK1A	CPLX1	MT-ND6	MT-RNR1	ADGRV1	APC2	MT-ATP6	HACE1	EFHC1	NHLRC1	MT-ND4	CUX2	BRAT1	MT-TQ	GNB1	SMC1A	NDUFA1	CLCN2	MECP2	SLC9A6	NUS1	MT-TI	MT-TS2	VPS50	SLC2A1	KCNA1	DPM2	MT-ND2	KCNJ11	COG2	PLAGL1	TANGO2	CAMTA1	SLC38A3	STAT3	CHD2	IER3IP1	COQ5	SLC6A1	VPS53	TBC1D24	KARS1	GRM7	DOCK7	ABCC8	SDHB	TSEN15	AFG3L2	GABRG2	PTEN	NSD1	SMS	RPL10	HCN2	MAPK10	MT-TP	JRK	SLC6A19	GABRB3	ARHGEF9	TSEN34	PSAP	PTRH2	DHDDS	MT-TV	GCK	ALDH7A1	SCN8A	DPM1	MBOAT7	OGDHL	LNPK	MT-TH	STXBP1	SDHAF1	NTNG1	CASK	PIGT	SDHA	MT-TW	OPHN1	PIGA	MDH2	BTD	GABRA1	MT-ND3	EXOC8	COX8A	INS	HYMAI	PRICKLE1	SDHD	PIGP	TMX2	TRIT1	SAMD12	ACSF3	NEUROD2	HCN1	GAD1	CLN8	PRDM8	SYNGAP1	SLC1A2	TRAPPC9	SEPSECS	BUB1B	PAFAH1B1	MTHFR	PNKP
HP_FOCAL_NON_MOTOR_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_NON_MOTOR_SEIZURE	NPRL2	PHGDH	PRRT2	EPM2A	PACS1	KCNA1	GLI3	NHLRC1	ADGRG1	RELN	TREX1	SRPX2	SLC38A3	NGLY1	LGI1	PI4KA	MICAL1	ATP1A2	KCNQ3	DEPDC5	KCNQ2	GAL	PDE2A	CACNA1A	SMO	CNTN2	SCN8A	GRIN1	NPRL3	SCN1A
HP_TONIC_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TONIC_SEIZURE	SCN2A	KCNA1	CDKL5	GABRA3	NACC1	SLC25A22	CLCN3	SCN1B	TMEM147	COG2	TANGO2	SLC38A3	ATP1A3	GRIA2	SCN1A	VPS53	KCNQ5	PURA	CACNA1A	ARFGEF1	KARS1	HID1	GRM7	FBXO28	DOCK7	WDR45B	NECAP1	KCNQ2	CACNA1C	GABBR2	CHD2	SATB1	TRIM8	SCN9A	TSEN2	CLCN4	GRIA3	RPL10	HCN2	PHACTR1	MAPK10	SLC6A19	GABRB3	ARHGEF9	AKT3	KCNQ3	DNM1	CENPE	GABRG2	PTPN23	GNAO1	MTOR	CACNB4	MECP2	NEXMIF	GRIN1	SCN8A	ARX	DPM1	CNPY3	EEF1A2	CUX2	DMXL2	GRIK2	PRRT2	GABRA5	STXBP1	RUSC2	NGLY1	PLCB1	PCDH19	CASK	KCNC2	SQOR	PIGT	TBCD	NSF	PIGQ	MDH2	PSAP	TBL1XR1	NAPB	EN1	PIK3CA	CPLX1	ATP6V0A1	UFSP2	KDM5C	ADGRV1	PPFIBP1	PIGP	GRIN2A	NEUROD2	CEP85L	PLPBP	ALG13	SIK1	GNB1	SLC25A12	CUL3	HNRNPU	POMK	SLC1A2	GABRA1	D2HGDH	PAFAH1B1	PNKP	VPS50	PPP3CA
HP_MYOCLONIC_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOCLONIC_SEIZURE	SCN1A	PHGDH	TSEN2	MT-TF	CLCN3	SPATA5	CDKL5	GABRD	NDUFV1	PLPBP	KCTD7	CACNA1A	HCN1	RAB18	ALDH7A1	MT-ND1	SIK1	FBXO28	ALDH5A1	SETD2	EXTL3	PDX1	PPIL1	SCN1B	STX1B	AP3D1	MT-ND5	GRN	SPATA5L1	ELOVL4	SATB1	SLC25A15	COL18A1	EPM2A	GLB1	SCN9A	PCDH12	MT-TL1	ASAH1	AP2M1	NDE1	EEF1A2	TMEM231	CAMTA1	DNM1L	NARS1	DNM1	NCDN	PTPN23	EXOC7	GRIN1	MFSD8	DPAGT1	MT-TK	ADGRG1	PIGQ	CLN5	EXOSC5	SCN2A	DMXL2	NEXMIF	CARS2	PPP1R21	GPHN	GRIN2A	GAMT	GABBR2	GBA1	GABRA5	NGLY1	AARS1	PCDH19	GALC	GABRA1	TSEN54	KNSTRN	MACF1	KCNT2	PIK3CD	SLC12A5	NEU1	DYRK1A	CPLX1	KCNA2	MT-ND6	MT-RNR1	ADGRV1	DPH5	APC2	MT-ATP6	HACE1	CLN3	PPFIBP1	ZNF526	NHLRC1	MT-ND4	CUX2	BRAT1	MT-TQ	KCNMA1	ALG13	GNB1	SMC1A	EFHC1	POU4F1	KCNJ11	NDUFA1	RTN4IP1	MECP2	NUS1	SETD1B	MT-TI	MT-TS2	SLC2A1	DPM2	CTSD	MT-ND2	SLC25A22	GPAA1	CIC	PLAGL1	TANGO2	NAXE	SLC38A3	STAT3	CHD2	IER3IP1	SLC6A1	VPS53	PRUNE1	GABRB3	CEP85L	TBC1D24	ARFGEF1	HID1	NBEA	ABCC8	SDHB	CACNA1C	TSEN15	AFG3L2	GABRG2	PTEN	NSD1	HCN4	SMS	MAPK10	MT-TP	CDC40	TSEN34	PSAP	PTRH2	CAMK2A	DHDDS	FARS2	CLPB	MT-TV	PIGT	HEXB	GCK	ARX	DPM1	CLCN2	MBOAT7	CNPY3	PYCR2	LNPK	CACNA1D	MT-TH	GRIK2	MICOS13	STXBP1	SDHAF1	NTNG1	GRIN2B	KCNC2	PGAP3	TGFB1	SDHA	MT-TW	OPHN1	RBL2	PIGA	MDH2	BTD	YWHAG	MT-ND3	EXOC8	COX8A	DNAJC5	INS	HYMAI	PRICKLE1	SDHD	TRIT1	SAMD12	GAD1	CLN8	PRDM8	SYNGAP1	NDUFAF3	SLC1A2	TRAPPC9	DALRD3	D2HGDH	CSNK2B	CILK1	SEPSECS	BUB1B	PAFAH1B1	MTHFR	PPP3CA
HP_INFECTION_RELATED_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFECTION_RELATED_SEIZURE	SCN2A	KCNA1	SCN1A	TSEN2	GABRA3	AASS	RPL10	CACNB4	SCN1B	HS6ST2	SPTBN1	SCN3A	GRIA2	GABRD	CILK1	CHD2	KCNQ3	SLC44A1	CACNA1H	MVK	ATP1A2	DTYMK	TBC1D24	HCN1	KMT5B	HERC2	GRM7	GABRA1	FBXO28	PRRT2	DPYD	CAMK2A	TSEN15	STX1B	SETD5	MBD5	POGZ	GABRG2	SCN9A	DNMT3A	THUMPD1	COG4	HCN2	GLS	AP4S1	SLC25A22	JRK	SLC35C1	KCNQ2	CDKL5	DYRK1A	TSEN34	SETBP1	GNAO1	PDE2A	SRPX2	HNRNPR	GPT2	SCN8A	ADORA2A	ALDH4A1	AP2M1	RSRC1	MBOAT7	PTH1R	ACADM	GRIN2A	ASXL2	NEXMIF	RNU12	EFHC1	LMNB1	TRIM8	VPS11	APP	GABRB3	PCDH19	CASK	CPA6	KCTD7	WDR26	SLC2A1	CNKSR2	TSEN54	TBCD	PIGQ	MT-TK	KCNJ6	ARX	DEPDC5	DMXL2	AUH	KCNA2	ERLIN2	GRIN1	ADGRV1	NPRL3	GALC	NPRL2	PIGP	TRIT1	NFIX	NEUROD2	CEP85L	EMC10	ABHD16A	WAC	GNB1	SLC13A3	CPLX1	SLC25A12	GAMT	CACNA1A	CLCN2	SYNGAP1	SLC6A1	FAR1	SIK1	MAF	SEPSECS	SATB2	PNKP	SDHB	PEPD
HP_AIRWAY_HYPERRESPONSIVENESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AIRWAY_HYPERRESPONSIVENESS	SCGB3A2	ADRB2	ALOX5	HNMT	MUC7	CCL11	IL13	HLA-G	PLA2G7	TNF
HP_ABNORMAL_URINE_PH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_PH	NDUFA9	HLCS	ABCD4	TCN2	MT-ND2	ACAD9	MMACHC	GCDH	POLRMT	HPD	DNAJC19	MLYCD	MVK	CPT2	ETFA	ALAD	MCCC2	MT-ND1	IDH1	SLC25A20	GRHPR	ACADS	UROC1	L2HGDH	MT-ND5	ATPAF2	ALDH6A1	CPOX	LMBRD1	SUCLG1	ETHE1	RET	SLC25A4	PCCB	NDUFS4	HOGA1	HCFC1	FOCAD	FLAD1	SCO1	LETM1	GATM	MCCC1	COX16	GATA1	SLC25A1	MMAA	UROS	HADH	NFS1	ALDH5A1	MT-TV	BCS1L	MT-TK	CPT1A	PPOX	SLC25A21	AGXT	SLC26A1	POLG	SDHD	ACADM	OXCT1	LIPT1	HFE	SLC18A2	HMBS	SLC52A2	SUGCT	CD320	DHTKD1	MCEE	PCCA	ETFDH	HGD	MT-TW	MMAB	NDUFB10	ACADVL	MT-TL1	MMADHC	BTD	MT-ND6	NADK2	NFU1	MT-ND3	MT-ATP6	MRPS2	SLC22A5	ETFB	LDHD	MT-ND4	ACSF3	IDH2	PRDX1	LYRM4	TAT	SLC13A3	PET117	PDP1	ACAD8	PEX1	SUCLA2	MPC1	TRMU	SLC25A19	HMGCL	SLC52A1	MMUT	D2HGDH	KIF1B
HP_ABNORMAL_BRONCHOALVEOLAR_LAVAGE_FLUID_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BRONCHOALVEOLAR_LAVAGE_FLUID_MORPHOLOGY	SLC7A7	SFTPC	TERT	BTNL2	NKX2-1	HLA-DRB1	MUC5B	CSF2RB	ABCA3	SFTPA2	SFTPB	COPA	MARS1	CSF2RA	OAS1	SFTPA1
HP_ABNORMAL_CELLULAR_COMPOSITION_OF_BRONCHOALVEOLAR_FLUID	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CELLULAR_COMPOSITION_OF_BRONCHOALVEOLAR_FLUID	SFTPC	SFTPA2	TERT	COPA	BTNL2	NKX2-1	HLA-DRB1	MUC5B	SFTPA1
HP_ELEVATED_BRONCHOALVEOLAR_LAVAGE_FLUID_NEUTROPHIL_PROPORTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_BRONCHOALVEOLAR_LAVAGE_FLUID_NEUTROPHIL_PROPORTION	SFTPC	SFTPA2	TERT	NKX2-1	MUC5B	SFTPA1
HP_PERSISTENT_HEAD_LAG	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERSISTENT_HEAD_LAG	NSRP1	COX10	UGP2	FARSB	MYL1	EN1	CDK5	DLAT	MICOS13	SPTBN1	CAMK2B	NONO	DHX30	LYRM4	IFT140	NAA20	MPZ	MECP2	TIMM50	LAMB2	SUCLG1	SLC25A12	GEMIN4	LINS1
HP_DELAYED_ABILITY_TO_ROLL_OVER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_ABILITY_TO_ROLL_OVER	YIF1B	VPS35L	MRPS25	ATP6V0A1	TAF8	ADCY5	PGAP1	CELF2	SON	NDUFA8	SLC25A12	MECP2
HP_INCREASED_FECAL_PORPHYRIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_FECAL_PORPHYRIN	GATA1	CPOX	ALAD	UROS	UROD
HP_MALE_REPRODUCTIVE_SYSTEM_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALE_REPRODUCTIVE_SYSTEM_NEOPLASM	AKT1	DMRT3	RNASEL	TP53	WT1	PRKACA	ZFHX3	PTEN	CHEK2	NR5A1	NAB2	KANSL1	RAD51	EPHB2	AR	STAT6	CYP11B1	ZFPM2	PDE8B	TXNRD2	NR0B1	RAD50	STS	COL14A1	BRCA1	CDKN1B	IGF2	MRAP	VAMP7	KLF6	DHX37	RNF43	PRKAR1A	PDE11A	FLI1	GATA4	RAD51D	CDC73	MC2R	RAD51C	SRY	PALB2	BMPR1A	DICER1	BARD1	WWOX	AAGAB	MDM2	STK11	CDH1	MRE11	BRIP1	STAR	KEAP1	NNT	APC	SOX9	FOXE1	MXI1	CDKN2A	BRCA2	EWSR1	GREM1	MAD1L1	MAP3K1	NBN	NTHL1
HP_FEMALE_REPRODUCTIVE_SYSTEM_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEMALE_REPRODUCTIVE_SYSTEM_NEOPLASM	BRAF	BUB3	FH	CDH1	AKT1	AURKA	BUB1	DCC	TRIP13	SDHD	POLE	CEP57	SDHB	APC	NAB2	MSH3	USF3	SRC	PTEN	MSH6	FLCN	STAT6	TLR2	RAD54B	NRAS	PTPRJ	CCND1	BMPR1A	BUB1B	SEMA4A	DLC1	SEC23B	CTNNB1	POLD1	PDGFRL	MLH3	FLI1	MSH2	PIK3CA	MLH1	CDC73	PTPN12	MCC	CHEK2	TP53	STK11	COL4A6	COL4A5	NTHL1	KLLN	RPS20	SLC6A17	FGFR3	PLA2G2A	PMS2	GREM1	EPCAM	SDHC	EP300	BAX	AXIN2	DOCK8
HP_DECREASED_NASAL_NITRIC_OXIDE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_NASAL_NITRIC_OXIDE	CFAP52	RSPH9	DNAH5	MCIDAS	CCDC65	RSPH4A	CCNO	ODAD3	RSPH1	RSPH3	ZMYND10	DRC1	DNAH11	DNAH9	SPAG1	DNAJB13	LRRC56	CFAP298	DNAI2	DNAAF6
HP_MOTOR_REGRESSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOTOR_REGRESSION	GLB1	POLR3K	NDUFA6	HSD17B4	EPRS1	SELENOI	ADH5	NGLY1	TRAPPC6B	POLR3GL	NFU1	DPH5	CLN8
HP_DECREASED_SERUM_TERMINAL_COMPLEMENT_COMPONENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SERUM_TERMINAL_COMPLEMENT_COMPONENT	C8B	C5	C8A	C6	C7	C9
HP_ABNORMAL_FACTOR_IX_ACTIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FACTOR_IX_ACTIVITY	GGCX	F9	MGAT2	VKORC1	SLC37A4	PMM2
HP_ABNORMAL_MACROSCOPIC_URINE_APPEARANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MACROSCOPIC_URINE_APPEARANCE	MYO1E	HMBS	EMP2	STAT4	IRAK1	ANLN	GAPVD1	BLVRA	NUP85	UROD	MAGI2	CPT2	INF2	APOL1	TTC26	ANKFY1	ALAD	CPOX	NUP205	NUP107	MT-CO3	NPHS1	TSC1	COL4A3	TBC1D8B	SPP1	TSC2	ATP11C	CD2AP	NUP93	PAX2	PYGM	PLCE1	ABCC2	COQ8B	NPHS2	ACTN4	AKR1D1	ARHGDIA	LPIN1	NUP160	TRPC6	UROS	PTPRO	GATA1	WT1	NUP133	DMD	CLTRN	ARHGAP24	CRB2	MT-CO1	NUP37	DAAM2	SLC6A19
HP_ABNORMAL_CIRCULATING_FREE_T4_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_FREE_T4_CONCENTRATION	KCNJ18	CPE	TBL1X	SECISBP2	IRS4	THRB	MADD	POU1F1
HP_DECREASED_CIRCULATING_FREE_T4_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_FREE_T4_CONCENTRATION	CPE	TBL1X	IRS4	MADD	POU1F1
HP_APLASIA_HYPOPLASIA_OF_THE_THYROID_GLAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_THYROID_GLAND	SLC26A4	LHX3	TRHR	POU1F1	GLI3	NKX2-1	PAX8	NKX2-5	HESX1	TSHB	NSDHL	TSHR	DUOX2	LHX4	PROP1	ADAMTSL1	GNB2	POLR1B	POLR1C	FOXE1	POLR1D	TCOF1	IRS4	KAT6B
HP_INCREASED_GLUTAMINE_FAMILY_AMINO_ACID_LEVEL_IN_URINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_GLUTAMINE_FAMILY_AMINO_ACID_LEVEL_IN_URINE	SLC7A9	LIPT1	SLC7A7	SLC3A1	AASS
HP_INCREASED_SULFUR_AMINO_ACID_LEVEL_IN_URINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_SULFUR_AMINO_ACID_LEVEL_IN_URINE	PREPL	AASS	MTRR	SLC3A1	CBS	CAMKMT	MTR	LMBRD1	ABCD4	MTHFR	HCFC1	MMACHC	PPM1B	SLC7A9	PRDX1	MMADHC
HP_INCREASED_ASPARTATE_FAMILY_AMINO_ACID_LEVEL_IN_URINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_ASPARTATE_FAMILY_AMINO_ACID_LEVEL_IN_URINE	SLC1A1	AASS	GUCY2D	SLC7A9	SLC7A7	SLC3A1
HP_INCREASED_URINE_PROTEINOGENIC_AMINO_ACID_DERIVATIVE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_URINE_PROTEINOGENIC_AMINO_ACID_DERIVATIVE_LEVEL	OPLAH	ASPA	MOCS1	SLC25A13	GPHN	SLC13A3	GSS	MOCS2
HP_INCREASED_URINARY_NON_PROTEINOGENIC_AMINO_ACID_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_URINARY_NON_PROTEINOGENIC_AMINO_ACID_LEVEL	PLOD2	LMBRD1	MMACHC	DMGDH	SLC7A9	PRDX1	SLC36A2	SLC6A20	LETM1	SLC6A18	DHTKD1	SLC25A15	TNFRSF11B	AASS	ALDH5A1	SLC3A1	CTH	TNFRSF11A	PRODH	SLC7A7	ALDH4A1	SLC6A19	ALDH6A1	NFU1
HP_INCREASED_SERINE_FAMILY_AMINO_ACID_IN_URINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_SERINE_FAMILY_AMINO_ACID_IN_URINE	SLC6A20	SLC36A2	MCCC2	GCSH	GLYCTK	GLDC	PRODH	PCCA	PCCB	SLC6A18	SLC6A19	AMT	ACADM	IVD	NFU1	ALDH4A1
HP_INCREASED_PROTEINOGENIC_AMINO_ACID_LEVEL_IN_URINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_PROTEINOGENIC_AMINO_ACID_LEVEL_IN_URINE	HAL	LIPT1	SLC3A1	CBS	LMBRD1	AASS	ABCD4	GCSH	MMACHC	GLYCTK	GLDC	SLC1A1	PPM1B	GUCY2D	SLC36A2	SLC6A20	SLC6A18	SLC6A19	ACADM	PREPL	MCCC2	MTHFR	MMADHC	ARG1	NFU1	MTRR	MTR	PRODH	HCFC1	SLC7A9	PCCA	PRDX1	SUOX	CAMKMT	SARDH	OPLAH	SLC7A7	CLTRN	PCCB	ALDH4A1	AMT	IVD
HP_ABNORMAL_CIRCULATING_PROTEINOGENIC_AMINO_ACID_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_PROTEINOGENIC_AMINO_ACID_CONCENTRATION	PHGDH	COX5A	CBS	AASS	ABCD4	GLYCTK	PAH	MMACHC	GLDC	FAH	GUCY2D	HPD	BCKDK	MCCC2	SLC25A13	UROC1	CPS1	ARG1	AHCY	LMBRD1	SUCLG1	GNMT	MTRR	COX10	PRODH	PSAT1	BOLA3	GLS	BCKDHB	MCCC1	COX16	GCH1	MMAA	PCBD1	NFS1	ADK	SARDH	NR4A2	BCS1L	PTS	NAGS	PPM1K	SLC7A7	PCCB	ALDH4A1	OTC	NFE2L2	HAL	GLRX5	GLUL	LIPT1	ASS1	NDUFC2	BCAT2	GCSH	BCKDHA	SLC30A10	GPHN	FTCD	MICU1	NADK2	KYNU	CD320	SLC19A1	MMAB	DBT	TALDO1	MTHFR	NDUFB10	MMADHC	NFU1	PSPH	COX8A	SKIC3	MAT1A	MDH1	DLD	MTR	PCCA	PRDX1	TAT	IRF6	SPR	TNFRSF11B	PET117	QDPR	PDP1	IMPDH2	ASL	MTHFD1	MMUT	TARS2	PNPO	AMT
HP_ABNORMAL_CIRCULATING_PROTEINOGENIC_AMINO_ACID_DERIVATIVE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_PROTEINOGENIC_AMINO_ACID_DERIVATIVE_CONCENTRATION	ASPA	COX5A	NAGS	LMBRD1	NDUFC2	TMEM70	MT-ND2	BCKDHA	SLC25A13	FBXL4	PC	MICOS13	MMACHC	NGLY1	PDHA1	NDUFA13	DTYMK	MT-TW	MT-ND1	DBT	KARS1	FBP1	TYMP	CTH	TRMT10C	POLG	NDUFB10	MT-TL1	COQ9	PNPLA8	MIPEP	MTO1	MT-ND5	MT-ND6	MT-ND3	COX8A	VARS2	COX6B1	PDHX	MT-ATP6	COX10	RRM2B	NDUFS4	MRPS2	MT-ND4	FOCAD	LIG3	UQCRC2	PRDX1	SCO1	DNM1L	BCKDHB	COX16	GAMT	LIPT2	PDP1	SLC25A4	NFS1	MT-TV	TMEM126B	ATP5F1A	CA5A	MT-TK	TARS2	SLC7A7	LYRM7	MRPS14	ALDH4A1	MRPL3	MTHFR
HP_ABNORMAL_CIRCULATING_NON_PROTEINOGENIC_AMINO_ACID_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_NON_PROTEINOGENIC_AMINO_ACID_CONCENTRATION	SLC25A15	MT-ATP6	HFE	SLC25A13	ASS1	AASS	MT-ND2	MT-ND4	DMGDH	MRM2	APP	NOS3	OAT	MT-TW	MT-ND1	ALDH5A1	MPO	MT-TV	PLAU	MT-TK	CPS1	MT-TL1	SLC7A7	OTC	MT-ND5	MT-ND6	PCK1	MT-ND3
HP_ABNORMAL_RIGHT_VENTRICULAR_FUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RIGHT_VENTRICULAR_FUNCTION	SELENON	TBX20	SDHD	TLL1	GATA6	DVL1	MYH7	BMPR2	NKX2-5	TTN	WNT5A	ACTC1	MYH6	ATRX	EIF2AK4	CITED2	SLC34A2	GATA4	ATP13A3	ROR2	DAXX
HP_DELAYED_ABILITY_TO_CRAWL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_ABILITY_TO_CRAWL	MRPS25	RBL2	PGAP1	MDH2	CTNNB1	HIVEP2	CELF2	SON
HP_ABNORMAL_SHOULDER_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SHOULDER_PHYSIOLOGY	COMP	PKDCC	ZMPSTE24	GNPTAB	SGCA	ZC4H2	GNE	TPM2	MYH7	TRAPPC2	ECEL1	LMNA	HGD	RECQL4	FBN1
HP_ABNORMAL_RENAL_ECHOGENICITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_ECHOGENICITY	CSPP1	NSD2	BICC1	PBX1	FOCAD	IFT43	SLC22A12	DCDC2	MYH11	PIGY	PDCD6IP	MYOCD	TCTN2	SLC30A9	TTC26	COG6	TMEM67	KIF14	CILK1	XPNPEP3	SARS2	TBX18	KIAA0586	DZIP1L	CC2D2A	REN	LAMB2	INVS	DAAM2	RNU7-1	TULP3	PKHD1
HP_LONG_NASAL_BRIDGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_NASAL_BRIDGE	MYH3	BPTF	SEPTIN9	PSMC1	TPM2
HP_ABNORMAL_CIRCULATING_CERULOPLASMIN_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_CERULOPLASMIN_CONCENTRATION	COG2	ATP7A	SLC33A1	AP1S1	AP1B1	CP	TMEM199	ATP7B	CCDC115
HP_INTRAHEPATIC_BILE_DUCT_DILATATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRAHEPATIC_BILE_DUCT_DILATATION	KIF3B	TTC26	MED12	WDR19	TMEM67
HP_ABNORMAL_PHARYNX_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PHARYNX_MORPHOLOGY	MDM4	PNP	PRPS1	MGP	DNAH5	ARSB	BLM	NFKB1	TNFRSF13C	F12	STAT1	IDS	COL5A2	RPGR	DOCK8	IRF2BP2	PIK3CD	SMARCB1	GNPTAB	PLG	FCHO1	HYOU1	C4B	PIK3R1	HPS6	GAS8	NAGLU	DCLRE1C	CD79A	GFI1	GLI3	KATNIP	SMARCA4	STK11	CD4	TAP2	RAC2	RAG2	HLA-DRB1	TNFRSF13B	G6PC3	GNS	MED12	MBTPS2	IL17RA	SMARCA2	TCIRG1	IL2RG	UNC119	PHIP	NME5	ARID1B	ZAP70	ODAD1	SH3KBP1	MAGT1	CREBBP	CCDC65	FOXJ1	LRBA	GJA1	MYSM1	FGFR1	PSMB8	DNAI1	NFKB2	ICOS	RAG1	TCOF1	LEPR	SERPING1	NME8	HYDIN	XIAP	ZMYND10	FOXN1	RFXAP	CIITA	TMCO1	KDM5C	ARID1A	ANKH	IL10RB	CD19	DYM	FOXP1	MDFIC	ACP5	STX3	CR2	SGSH	SMARCC2	DNAAF5	RSPH4A	FCGR3A	CD79B	USB1	LEP	SPI1	HGSNAT	MST1R	NEK10	SMARCD1	ASAH1	CFAP298	IL6R	ELANE	IGKC	SOX9	MCIDAS	ALMS1	NCF4	AICDA	SETBP1	NOTCH2NLC	STXBP2	GAS2L2	IL21R	CLPB	CARMIL2	TP53	IFIH1	DNAAF4	PRKCD	NBN	WAS	SLC29A3	GLB1	CFI	RFXANK	SHH	ODAD2	TAPBP	DNAAF11	DNAJB13	JAK3	SOX4	POLE	ALG12	DNAAF6	EGFR	IVNS1ABP	COG4	TBC1D24	GIPC1	RFX5	IL6ST	SPAG1	ZBTB7A	STK36	TAFAZZIN	UNG	SCNN1B	PTPN22	NFIX	RSPH1	TBX1	MGAT2	SRP54	IGHM	MID1	CTLA4	TP63	ZNF341	IKBKB	ARID2	XPNPEP2	DNAAF2	BTK	FGFR2	EP300	TAP1	KRT5	ATM	SCNN1G	RNF168	SCNN1A	DNAI2	STAT3	SASH3	USP9X	SALL4	SH2D1A	DPF2	MATR3	ADA2	MS4A1	IGHG2	SMARCE1	SOX11	CD81	TOM1	GUSB	DNAAF1	UQCRH	TNFSF12	PDE11A	GALNS	CXCR4	ARHGEF1	TNFRSF1A	SLC37A4	HLA-B	ADA	PRKAR1A	OFD1	P4HA2	PLP1	ADNP	HLA-DPB1	RSPRY1	COL5A1	IL7R
HP_NECROTIZING_ENTEROCOLITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NECROTIZING_ENTEROCOLITIS	FCN3	ACADVL	PIGY	DEF6	MYH11
HP_PORTAL_INFLAMMATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PORTAL_INFLAMMATION	MED12	FADD	ABCB4	SLC25A13	FOCAD
HP_DECREASED_CD4_CD8_RATIO	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CD4_CD8_RATIO	WAS	IL2RB	AP3B1	GATA2	DEF6	UNC119	CASP8	IL2RA	CTPS1	MAGT1
HP_ABNORMAL_GLOMERULAR_MESANGIAL_CELLULARITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GLOMERULAR_MESANGIAL_CELLULARITY	KIRREL1	SGPL1	COPA	SPRY2	APOE
HP_PALMAR_HYPERLINEARITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALMAR_HYPERLINEARITY	CYP4F22	FLG	ALOX12B	ALOXE3	STS	CERS3
HP_SUDDEN_UNEXPECTED_DEATH_IN_EPILEPSY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUDDEN_UNEXPECTED_DEATH_IN_EPILEPSY	CPLX1	UBR7	SHQ1	GUF1	SCN8A	SCN1A
HP_NON_MOTOR_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NON_MOTOR_SEIZURE	SCN2A	SCN1A	PHGDH	TUBB2B	GABRA3	KCNMA1	SZT2	UBE3A	SPATA5	TREX1	AFF3	GABRD	CILK1	GPT2	DPM3	PLPBP	CACNA1A	CACNB4	HCN1	GAL	ALDH7A1	RNU4ATAC	FBXO28	CNTN2	SETD2	CAMK2A	SCN1B	STX1B	PGAP1	SPATA5L1	MEGF8	SATB1	TRIM8	EPM2A	SLC35A3	SCN9A	GLI3	ASAH1	AP2M1	EEF1A2	SLC25A22	ZEB2	PAK3	GABRG2	PI4KA	KCNQ3	DNM1	KCNQ2	GNAO1	ALDH5A1	SYNGAP1	GRIN1	GRIN2A	GDI1	ZBTB18	ADGRG1	SATB2	NEXMIF	PRRT2	NGLY1	GABRB3	KCNB1	LAMA2	LGI1	PCDH19	GABRA1	TUBB3	PIGQ	KCNT2	SLC12A5	ARX	EHMT1	DEPDC5	DMXL2	DYRK1A	ADGRV1	HNRNPK	APC2	NPRL2	KCNA1	EFHC1	NHLRC1	RELN	CUX2	KIF4A	WAC	GNB1	GATAD2B	GOSR2	MICAL1	CLCN2	SIK1	NUS1	SETD1B	SLC2A1	RORB	ALMS1	GPAA1	CIC	SRPX2	SLC38A3	ATP1A3	CSTB	CHD2	SLC6A1	CACNA1H	ATP1A2	KPTN	GRM7	NBEA	DOCK7	PTEN	PACS1	DHFR	SMARCA2	SMPD1	NSD1	CLCN4	MAPK10	JRK	ECM1	NUBPL	CDKL5	MYT1L	DHDDS	CLPB	PDE2A	SMO	PIGT	CDK13	MECP2	NTRK2	SCN8A	TUBA1A	ALDH4A1	DPM1	GJA5	CASK	SON	KCNC2	WDR26	FRRS1L	GJA8	YWHAG	NPRL3	NFKB2	ATAD3A	COL3A1	EZH2	PIGP	TRMT10A	PIGM	NEUROD2	CEP85L	GNAI1	ADPRS	HNRNPU	GLUD1	FAR1	PAFAH1B1	MTHFR	PNKP	PPP3CA
HP_ELEVATED_URINARY_MONOCARBOXYLIC_ACID_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_URINARY_MONOCARBOXYLIC_ACID_LEVEL	ACADM	OXCT1	ALDH5A1	ALDH6A1	HGD	NDUFB10
HP_ACUTE_PHASE_RESPONSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_PHASE_RESPONSE	NLRP3	UNC13D	SDHB	SLC40A1	CYP3A4	HMOX1	CYP27B1	C2orf69	CP	VHL	IFNGR1	UBA1	PRF1	CLDN16	HJV	RNU4ATAC	PRSS2	MVK	HFE	HAVCR2	SOST	POMP	PRKAR1A	CDKN1B	RET	ITGB2	IFIH1	CD244	TREX1	IL6	STX16	CASR	STEAP3	TGFB1	BCS1L	CIITA	IL2RB	FH	IL1RN	KCNN4	HLA-DRB1	TNFRSF1A	IL2RA	FTL	IL36RN	PTH	PSMB9	STXBP2	MAX	PTPN22	ADORA2A	CDKN2B	CTLA4	STX11	TICAM1	XIAP	CFTR	PRTN3	STING1	ANKRD55	PSMB8	SYK	SLC25A38	PTPN2	GCM2	SLC19A1	MEFV	GNAS	HLA-DPB1	NLRP12	CPA1	SPP1	NF1	CD247	SLC34A1	CDC73	LACC1	STAT4	PDE4D	SLC22A4	PIEZO1	SLC4A1	SDHD	PSMG2	SDHA	CDKN2C	BMP6	STAT2	LPIN2	TFR2	GNAS-AS1	PIK3CG	PSMB10	CASP10	PUS1	HAMP	PKLR	TMEM127	ELF4	TLR3	PRKCD	MDH2	MEN1	FTH1	SPINK1	IL37	CPOX	HBB	TBK1	FOCAD	SDHC	SLC25A11	NOD2	NFKBIL1	NLRP1	CTRC	AIRE	TRAF3	KIF1B	IL6ST	TBCE	ITK	TBX1	TMPRSS6	SLC7A7	PHEX	BMP2	FAM20A	GLRX5	IRAK1	IFNG	KL	PRSS1	TTC26	PSMB4	NLRC4	PSTPIP1	DEF6	OTULIN	SH2D1A	MCM10	ZNFX1	MIF	ADA2	IL10	ARPC1B	CARD10	SLC29A3	CDKN1A	OCRL	LYST	MYD88	HLA-DPA1	COPA	CYP2R1	HLA-B	P4HA2	SLC34A3	TRPV6	UNC93B1	CLDN19	VDR	DLST	SDHAF2
HP_ABNORMAL_GAMETOGENESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GAMETOGENESIS	PANX1	TUBB8	TRIP13	PATL2	WEE2
HP_NEURALGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEURALGIA	PIK3CA	BAP1	TERT	SMARCB1	NF2	SMARCE1	PRNP	AKT1	SH3TC2	PDGFB	SMO	TRAF7	SUFU
HP_PSYCHIC_EPILEPTIC_AURA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSYCHIC_EPILEPTIC_AURA	SCN8A	NPRL2	GAL	RELN	PDE2A	NPRL3	PRRT2	MICAL1	DEPDC5	LGI1
HP_EPILEPTIC_AURA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPILEPTIC_AURA	NPRL2	PRRT2	EPM2A	KCNA1	NHLRC1	ADGRG1	RELN	TREX1	SRPX2	PI4KA	MICAL1	ATP1A2	GAL	PDE2A	CACNA1A	CNTN2	DEPDC5	LGI1	SCN8A	NPRL3	SCN1A
HP_ABNORMAL_URINE_METABOLITE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_METABOLITE_LEVEL	LRP2	MT-ND4	SDHB	ALK	WDR4	CFI	ARSB	LMX1B	VPS37D	AASS	CYP27B1	ABCD4	FAH	TRNT1	ACAD9	B2M	SDHD	TREX1	SLC6A19	VHL	IDS	GNE	CPT2	SERAC1	ETFA	OPA3	GATM	IDH1	SLC25A20	DNMT3A	ACADS	MT-TK	DPYD	PDX1	GNPTAB	MAX	THBD	CFH	SLC6A20	APPL1	HPD	SUCLG1	CLCNKA	CTNS	ATP5F1E	SLC25A15	CFB	TRIM8	NAGLU	RET	BCS1L	PBX1	AGK	MT-TL1	FMO3	HCFC1	GALE	FH	SMARCA2	HMGCL	SCO1	LETM1	PUS3	NPHS1	COX16	ATP7B	ERCC4	SLCO1B1	APOA1	KCNJ1	WT1	SLC25A1	SUOX	CAMKMT	ALDH5A1	HACE1	UROC1	VPS33A	NAGA	PCCB	SLC3A1	CLCN5	OXCT1	HFE	BLK	ASS1	MLXIPL	SLCO1B3	MTX2	MYO1E	BCKDHA	PGK1	SLC25A13	PRTN3	LYZ	ACADM	SPRY2	VIPAS39	MAGI2	HGD	COL4A3	GLA	MAFB	NUP205	FBP1	HLA-DPB1	MTHFR	FKBP6	AGA	PHKA1	SLC12A1	VPS33B	MCCC1	ATAD3A	XPC	RNU7-1	LAGE3	SKIC3	CCND1	PAX2	ALDOB	MT-ND6	NEU1	COL2A1	PYGM	OTC	FN1	ETFB	KIF1B	COA8	SMARCAL1	SLC37A4	IDH2	PCCA	ACTN4	ANO5	TAT	TRPC6	MARS1	COQ6	GBA1	SGSH	TNFRSF11B	SAA1	SCARB2	MT-TS2	COL4A5	ATP6V1B2	CLIP2	ABCC8	TPRKB	MOCS1	GALT	PKD1	XDH	ASL	OPLAH	SDHA	MMUT	PNP	ERCC6	DGKE	MT-TQ	NUP107	VPS50	MAN2B1	CRPPA	IDUA	TOP2A	AMMECR1	MT-ND5	TANGO2	GCK	SLC2A9	PIGB	GLYCTK	PPM1B	NGLY1	STAT4	GUCY2D	NOS1AP	MLYCD	ISCU	TMEM127	COQ2	ALAD	MDH2	ERCC8	DDB2	PRPS1	PIGT	FUCA1	PIGA	CLPB	OSGEP	CPOX	PGAM2	SLC36A2	FGA	NEUROD1	PIK3CA	GSS	ERCC2	NUP93	OFD1	KYNU	CLCNKB	NDUFAF6	SGCB	PRODH	COQ8B	GK	PFKM	SLC25A11	EPAS1	LPIN1	KANK2	CD2AP	KHK	TPK1	APRT	UMPS	MEFV	INF2	UNC45A	CPT1A	PPOX	KIRREL1	SPINK5	SLC7A7	LIN28B	ALDH4A1	BAZ1B	KIF23	RMRP	ELN	HAL	FGFR2	OCRL	TK2	SLC18A2	DNAJB11	DGUOK	HMBS	WDR73	SLC1A1	IRAK1	TIMM50	MCEE	NPHS2	ETFDH	BSND	EIF4H	TCN2	PREPL	MMAB	DBT	NDUFB10	SUGCT	LMO1	AUH	SLC5A2	MMADHC	G6PC1	MT-TF	PDSS2	TBC1D8B	LAMB2	NFU1	HSD17B10	SLC34A1	PHKG2	GUSB	SLC22A5	DPYS	ACSF3	HLA-DPA1	SLC22A12	PRDX1	CASR	RYR1	KCNE5	FAN1	ACSL4	OGDH	PHOX2B	HNF1B	TRPV6	TNFRSF11A	C3	PET100	LMNA	ETHE1	ERCC5	PCBD1	AMT	PCK1	DLST	HPRT1	SLC12A3	SUCLA2	DNASE1L3	HNF4A	CYC1	ASPA	CBS	SH2B1	TP53RK	STK11	HMOX1	ITGA3	ACP5	MMACHC	CASP10	MOCOS	AMN	GCDH	ANLN	PKD2	SLC16A12	LMNB2	CLDN16	MCCC2	PHKA2	EHHADH	MT-CO3	METTL27	ATPAF2	SLCO2A1	ARG1	MYH9	MTRR	SLITRK6	ADAMTS13	NUP85	NDUFS4	MT-TH	SUMF1	INS	GTF2IRD1	ARHGDIA	DBH	MICOS13	BCKDHB	GNS	DCXR	PTPRO	PMM2	NUP133	MMAA	UROS	HADH	PEX1	PAX4	DMD	SLC16A1	CD46	SNX14	CLTRN	HIBCH	ERCC3	CTLA4	CRB2	POLG	CTH	NUP37	PLOD1	ALPL	TMEM70	CPS1	BCL7B	LMBRD1	GCSH	GPHN	EMP2	CUBN	NCF1	GAPVD1	TKT	NT5C3A	MYCN	FTCD	OAT	CEL	APOL1	ANKFY1	SARS2	GLB1	SLC19A2	RFC2	REN	SPP1	NOTCH2	TBL2	GEMIN4	NF1	CHUK	DLD	IL1B	MTR	UROD	GALK1	CD81	GTF2I	NOS3	YRDC	ACAD8	GAA	CA5A	MOCS2	GSN	HGSNAT	ARSK	MAF	STX1A	NUP160	STAT2	WDR19	PEPD	DNAJC30	TBC1D24	KCNJ11	GATA6	GLDC	MT-TE	STAT3	HTRA2	NIPBL	SGPL1	IER3IP1	DNAJC19	MVK	KRAS	KARS1	G6PD	ATP5F1D	SLC2A2	DDOST	IFT172	MT-CO1	L2HGDH	TRMT5	GANAB	ALDH6A1	FLT1	ERBB2	XPA	FKRP	MANBA	KLF11	ALDOA	KRT18	PLCE1	RRM2B	SLC6A2	FOCAD	DMGDH	NSMCE2	SDHC	SLC7A9	HELLPAR	FOXC2	PSTPIP1	TAFAZZIN	COL4A6	GATA1	BUD23	FARS2	NFS1	SARDH	ITGA8	GATA3	ALG5	IVD	SNAP29	MUTYH	MIA3	LCAT	PLOD2	LIPT1	LDHA	COL4A4	CORIN	CASK	SLC5A1	KLF6	COX14	GCLC	SURF1	HADHA	SLC6A18	CD320	CACNA1S	DHTKD1	LPIN2	MT-CO2	RPIA	PEX5	APC	MT-TN	GTF2IRD2	LIMK1	ACADVL	DNASE2	STOX1	CD59	TMEM270	HNF1A	BICC1	SLC35A1	PIEZO1	GALNS	GYS2	PHKB	CYP2R1	PYGL	SLC13A3	APOE	PIK3C2A	IFT140	ZAP70	IL1RN	TP53	ACAT1	PTPN22	TRMU	SLC52A1	GLUD1	MT-TW	HADHB	ALG9	IRF1	D2HGDH	SMAD4	ARHGAP24	SDHAF2	DAAM2	MT-ND1
HP_ABNORMAL_URINE_OSMOLALITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_OSMOLALITY	AVPR2	SLC12A1	KCNJ1	AQP2	NPHP1	CLCN5
HP_BILATERAL_SUPERIOR_VENA_CAVA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_SUPERIOR_VENA_CAVA	SMAD2	CFC1	FADD	PRKACB	ZIC3	SLC29A3	ACVR2B	MED25	CIROP
HP_DECREASED_COMPOUND_MUSCLE_ACTION_POTENTIAL_AMPLITUDE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_COMPOUND_MUSCLE_ACTION_POTENTIAL_AMPLITUDE	SETX	BSCL2	KARS1	PMP2	SYT2	UQCRC1	ALS2	SIGMAR1	EMILIN1	DNAJB6	CADM3	RAB7A
HP_IRREGULARLY_SHAPED_SPERM_TAIL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRREGULARLY_SHAPED_SPERM_TAIL	CFAP47	DNAH10	FSIP2	TTC21A	DNHD1	CFAP91	WDR19	IFT74	CCDC34	DNAH8
HP_TISSUE_ISCHEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TISSUE_ISCHEMIA	RASA1	DNAJC30	TBX20	ABCC6	VPS37D	GATA6	KRAS	SCNN1B	FOXE3	COL3A1	IL10	CITED2	JAK2	MYLK	GNB2	HLA-B	TLR4	IL12B	TP53	MLX	TGFB2	C4A	METTL27	THPO	BRCC3	IL12A	ACTA2	STAT4	TET2	ADAMTS13	ACVRL1	IL23R	GLA	ACTB	CALR	MAT2A	HTRA1	MEFV	APP	COLGALT1	GDF2	HLA-DRB1	GTF2IRD1	FBN1	NPPA	PIK3CA	ENG	ZMPSTE24	PTPN22	BUD23	SMAD4	NOTCH3	THSD1	COL4A1	MPL	ACTG1	CTLA4	BAZ1B	ERAP1	ELN	MYBPC3	SCN5A	TGFB3	NAGS	BCL7B	SCNN1A	SLC2A10	MLXIPL	TLL1	GUCY1A1	LOX	NCF1	PRTN3	MYH6	CCR1	SON	EIF4H	TGFBR1	CTNNB1	IFNGR1	GTF2IRD2	LIMK1	BRAF	HLA-DPB1	NKX2-5	ADA2	FKBP6	MFAP5	TGFBR3	ACTC1	CBS	ANGPTL6	RFC2	KLRC4	TBL2	MYH11	HEY2	TMEM270	PRKG1	SMAD2	SMARCAL1	GTF2I	SH2B3	HLA-DPA1	MYH7	UBAC2	SCNN1G	PIK3C2A	RNF213	CLIP2	P4HA2	EPHB4	IL12A-AS1	GATA4	TGFBR2	LMNA	STX1A	ENPP1	FAS	SMAD3	IKBKG
HP_NEUROINFLAMMATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEUROINFLAMMATION	NOD2	STAT4	HLA-B	IFNGR1	IL23R	TLR4	POLG	MEFV	IKBKG	TLR7	C4A	IL10	IL12A-AS1	CCR1	PRORP	KLRC4	TK2	FAS	IL12A	ERAP1	UBAC2	NLRP3
HP_TUBE_FEEDING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TUBE_FEEDING	FOXP3	KLHL40	FGF8	TSEN2	TFG	MAP3K20	DLL1	ITCH	ZIC2	AASS	YARS1	STIL	CTCF	SPATA5	PLCH1	KIAA0753	HECW2	UGDH	COG5	MKRN3	TGIF1	ZNF699	KCNQ5	PIGY	IDH1	MEG3	SPG11	NODAL	PTCH1	PIGV	PGAP1	TDGF1	SIX3	SPOP	CLCNKA	EDEM3	MAGEL2	PNPT1	EPM2A	COL7A1	PSMC1	PDE10A	RECQL4	GNS	NALCN	DNM1L	CLCN6	MFF	TP63	PTPN23	FOXH1	UNC80	GAS1	SCN3A	CDON	GRIN1	SHH	FAT4	NRCAM	GFM2	PSAT1	CARS2	TRIP4	UBTF	YY1	ABCD1	SPTLC1	GALC	TRAPPC12	TSEN54	KNSTRN	PRPS1	EN1	MYL2	FUS	PIK3CD	DYRK1A	TPM2	ASXL3	HNRNPK	CLCNKB	DEGS1	NHLRC1	DISP1	LRPPRC	COL2A1	WAC	RALGAPA1	GLI2	COL4A5	HERC2	HACD1	MT-TE	B3GALT6	TOM1	VPS50	NPAP1	DPM2	FGFR1	MYL1	CDC42BPB	SNORD115-1	NACC1	SNRPN	SRCAP	PWRN1	SPTBN4	DTYMK	ASPA	GNB2	EPRS1	STAG2	SNORD116-1	SLC35A2	PWAR1	SETBP1	SLC1A4	TSEN15	CLPB	PPP2R1A	C2CD3	KRT5	ALG12	MYO1H	RNF13	DLK1	CREBBP	PACS1	PUF60	TOR1A	PDHA1	ALG2	RAPSN	COL4A6	TSEN34	PSAP	SELENON	PGAP2	MGAT2	GPT2	SLC5A6	BLM	MTRFR	AFF4	MTM1	DPM1	LONP1	GNPTAB	SATB2	TPM3	MOGS	COQ2	DCHS1	SON	KANSL1	BSND	WDR26	ALS2	PIGT	PIGW	NAA10	SCN1A	PGAP3	SMC1A	RTL1	TBCK	ITGA7	PDSS2	PIGO	LAMB2	COX8A	BRAF	PIGU	PTCD3	KCNK9	ACTA1	NONO	SIGMAR1	CLN8	ANAPC1	GRM7	CLTCL1	SYNE1	ACSF3	PLP1	MPDU1	FDFT1	ADNP	SIM1	KRT14	TRIO	DALRD3	FBP2	SEPSECS	TRMU	TXN2	PIGL	EP300
HP_ABNORMAL_CIRCULATING_BILIRUBIN_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_BILIRUBIN_CONCENTRATION	RHD	NR1H4	POU2AF1	CYP7B1	SPTBN1	SLCO1B3	ABCC2	PKLR	TSHB	DCDC2	ZNF699	OTX2	EPB41	MYO5B	PRF1	ODC1	RACGAP1	TMEM67	G6PD	HBB	TG	GATA1	ATP8B1	RHAG	ABCB11	SLC51A	AKR1D1	AMACR	PKHD1	CPOX	SPTA1	TSHR	RHCE	FARSB	UGT1A1	SPIB	ALDOA	LRP5	CDAN1	SPTB	FOCAD	EPB42	PGK1	KCNN4	PFKM	PAX8	KIF12	CPT2	ATP7B	SLCO1B1	OSTM1	PEX19	NHLRC2	UROS	ADK	IRF5	SLC5A5	SLC4A1	FH	LIPT1	TPO	CASK	SLC35A2	DGUOK	HSD3B7	LBR	SLC25A13	GLRX5	PIGA	UBE2A	IYD	MMEL1	SLC30A10	VIPAS39	ABCD3	TTC26	SLC19A1	NAA10	FBP1	IGF1	VPS33B	KIF23	DUOXA2	IL12RB1	WDR35	KLF1	GYPC	ALDOB	ANK1	RFX6	SEC63	SLC2A1	ABCB4	MED12	TNPO3	POMC	IL12A	RNU4ATAC	DUOX2	PIEZO1	MTTP	HK1	BAAT	TRMU	PRKCSH	TNFSF15	GSR	GPX1	EIF2AK3	SC5D	PAFAH1B1	VPS50	POLG2	SLC17A5
HP_LIVEDO_RETICULARIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIVEDO_RETICULARIS	STING1	ACTA2	PDSS1	ADA2	MYH11
HP_CEREBRAL_CAVERNOUS_MALFORMATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_CAVERNOUS_MALFORMATION	CCM2	ATP2B1	PIK3CA	KRIT1	PDCD10
HP_ABNORMAL_SPERM_AXONEME_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SPERM_AXONEME_MORPHOLOGY	FSIP2	SPEF2	CATIP	CFAP91	WDR19	QRICH2
HP_ABSENT_SPERM_AXONEME_CENTRAL_PAIR_COMPLEX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_SPERM_AXONEME_CENTRAL_PAIR_COMPLEX	FSIP2	SPEF2	CFAP91	WDR19	QRICH2
HP_BRONCHIAL_WALL_THICKENING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRONCHIAL_WALL_THICKENING	TTC26	ABCA3	SFTPC	FNIP1	PAK2	HYDIN
HP_GLOMERULAR_SUBEPITHELIAL_DEPOSITS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLOMERULAR_SUBEPITHELIAL_DEPOSITS	COL4A3	COL4A5	COL4A4	ARHGDIA	CFH	LMX1B	CEP83	CD151	DGKE	NOS1AP	WDR19	GATA3	RNU7-1
HP_BONE_MARROW_MATURATION_ARREST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BONE_MARROW_MATURATION_ARREST	WAS	SMARCD2	CLPB	FLNA	JAGN1
HP_ACUTE_CORONARY_SYNDROME	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_CORONARY_SYNDROME	DNAJC30	CBS	VPS37D	LMNA	LDLRAP1	IL10	SCNN1G	HLA-B	TLR4	IL12B	TP53	MLX	C4A	METTL27	LDLR	ABCA1	IL12A	MYH9	STAT4	TET2	ADAMTS13	IL23R	THOC2	ENPP1	CELA2A	CALR	MEFV	BRAF	GTF2IRD1	NR3C1	APOB	SH2B3	ZMPSTE24	BUD23	IRF4	MEF2A	MPL	JAK2	BAZ1B	ERAP1	VHL	ELN	BCL7B	MLXIPL	LPL	ABCG5	NCF1	PIGA	ATRX	CCR1	USP8	ABCG8	EIF4H	GLA	CTNNB1	IFNGR1	GTF2IRD2	LIMK1	SCNN1A	FKBP6	SCNN1B	IKZF1	BCHE	HGD	CYP27A1	RFC2	KLRC4	TBL2	CCND1	TMEM270	CFTR	RAF1	WRN	GTF2I	UBAC2	SLC2A10	CDH23	CEP19	CLIP2	DYRK1B	USP48	PTPN11	PCSK9	IL12A-AS1	LRP6	ABCC6	STX1A	FAS
HP_ABNORMAL_MUSCLE_FIBER_TYPE_DISTRIBUTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MUSCLE_FIBER_TYPE_DISTRIBUTION	KLHL41	COL6A3	SMN1	FKBP14	MYL1	MTMR14	NEB	GFPT1	POLRMT	ALG2	LRP4	COQ5	RYR1	TNNT1	COLQ	ACTN2	ACTA1	MYPN	TTN	TPM2	LMOD3	KLHL40	CAV3	AGRN	CHRNB1	PNPT1	AGTPBP1	MYH14	SGCG	ALG14	SCN4A	SELENON	CLCN6	SPEG	CFL2	AK9	DNM2	GYG1	DPAGT1	COL6A2	KY	CHRND	BIN1	GMPPB	MYH7	MUSK	KBTBD13	REEP1	LAMB2	CHRNA1	MYF6	MYH2	CHRNE	TPM3	CCDC78	GARS1	ANXA11	RAPSN	COL13A1	TWNK	POLG	POMT1	EMILIN1	DOK7	SLC25A12	KCNA1	VCP	DYNC1H1	UNC45B	SLC5A6	COL6A1	FXR1
HP_FIBER_TYPE_GROUPING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FIBER_TYPE_GROUPING	MYH14	TWNK	POLG	ANXA11	EMILIN1	REEP1	SLC5A6
HP_SHORT_TERM_MEMORY_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_TERM_MEMORY_IMPAIRMENT	GSN	MAPT	RRM2B	RNASEH1	PRNP	TTPA
HP_PULMONARY_INTERSTITIAL_THICKENING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_INTERSTITIAL_THICKENING	CSF2RB	SFTPC	BMPR2	EIF2AK4	SLC34A2	SFTPB	SFTPA1
HP_EEG_WITH_FRONTAL_EPILEPTIFORM_DISCHARGES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_FRONTAL_EPILEPTIFORM_DISCHARGES	SRPX2	GRIN2A	FRRS1L	ADGRG1	PI4KA	SPATA5
HP_EEG_WITH_PARIETAL_EPILEPTIFORM_DISCHARGES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_PARIETAL_EPILEPTIFORM_DISCHARGES	SRPX2	TRIM8	TBC1D24	ADGRG1	TFE3	PI4KA
HP_EEG_WITH_CENTROTEMPORAL_EPILEPTIFORM_DISCHARGES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_CENTROTEMPORAL_EPILEPTIFORM_DISCHARGES	GRIN2A	FRRS1L	IQSEC2	GABRG2	SRPX2
HP_LUPUS_NEPHRITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LUPUS_NEPHRITIS	DNASE1L3	FCGR2B	DNASE1	TREX1	PTPN22	CTLA4	FCGR2A
HP_ABNORMAL_EXTEROCEPTIVE_SENSATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EXTEROCEPTIVE_SENSATION	PMS1	NLRP3	ZFTA	IARS2	SNRPN	HPDL	CDKL5	SACS	DEAF1	IL10	MFN2	MKRN3	KIF5A	SPTLC2	COL1A1	PMP22	RNF170	NEFL	TLR4	PNPT1	POLG	SLCO2A1	MORC2	PMP2	THPO	SLC26A2	ATL1	GNA11	DDHD1	MAGEL2	STAT4	STX16	SPTLC1	MSH2	CASR	HPGD	SH3TC2	GNAS	AIP	SLC2A1	SORD	FAN1	PRDM12	HLA-DRB1	ZEB2	MEN1	APP	ATP7B	RAB7A	NALCN	DHH	SEPTIN9	DKK1	NARS1	KCNJ1	FBN1	UROS	COMP	GABRG2	UNC80	RAI1	KRT1	SLC19A2	KRAS	GRIA3	H19	MPL	JAK2	DSE	ERAP1	ZFHX2	CTDP1	SBF2	MPZ	GRIN2A	TGM1	SCN11A	SETX	GABBR2	CUBN	HLA-DQB1	MLH1	UBTF	KRT16	FGD4	IQSEC2	GLA	GDAP1	GALC	SCYL1	IFNGR1	SERPING1	MTHFR	DEPDC5	FLII	SLC12A1	YY1	HNRNPK	PIK3CA	NF2	RETREG1	NAGA	KDM5C	NPRL2	PRRT2	LITAF	TRIO	ABCA1	VCP	HK1	NTRK1	EBF3	TRAPPC2	SMC1A	HERC2	GNA14	CACNA1A	KIF1A	VWA1	NDN	IL12A-AS1	MECP2	PRORP	OCA2	LIFR	NPAP1	SYNGAP1	ATL3	BSCL2	SNORD115-1	OPA3	NGF	NGLY1	HMBS	PRNP	SLC12A3	SCN9A	UROD	PWRN1	MPV17	ATP1A2	TRIM32	HLA-B	HDAC4	TYMP	CHAMP1	SNORD116-1	KLHL9	TP53	PWAR1	AEBP1	C4A	ABCD1	IL12A	HSPB1	TET2	RRM2B	MTRFR	IL23R	MADD	MYORG	CLCNKB	CALR	MEFV	HEXB	LIG3	KRT9	DNM1L	KRT14	GATA1	MSH6	PSAP	PTPN22	ALAD	SRPX2	FMR1	EPCAM	RPS20	ATXN1	PLEKHG4	SCN10A	ALDH4A1	DCAF8	PDK3	CCND1	IGF2	WNK1	TGFBR2	GJB1	FAR1	ALDH18A1	PMS2	CHST14	CCR1	NTNG1	HINT1	SHANK3	BMPR1A	NAGLU	ADA2	SEMA4A	AIFM1	HARS1	TDP1	RELA	PEX16	MLH3	KLRC4	CBLIF	NPRL3	SCN4A	TWNK	SH2B3	KCNQ1OT1	TMEM218	TNFRSF1A	SDHA	TK2	ELP1	UBAC2	CCT5	MCM3AP	PDCD1	JAG1	GPR101	P4HA2	CLTCL1	LMX1B	PRPS1	SIM1	KRT5	HRAS	ATP13A2	FAS	GBE1	SCN1A
HP_HYPOESTHESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOESTHESIA	TWNK	TYMP	POLG	PMP22	SERPING1	MYORG	LITAF	KIF1A	PRDM12	PRORP	FGD4	ATP7B
HP_ABNORMAL_LEFT_VENTRICULAR_END_DIASTOLIC_VOLUME	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LEFT_VENTRICULAR_END_DIASTOLIC_VOLUME	NEXN	ADAMTS19	CRYAB	TPM1	LDB3	MYH6	MYPN	VCL	DSG2	CSRP3	BAG5	TNNI3	PSEN2	DMD	PSEN1	BAG3	ACTC1	TNNT2	MYBPC3	RAF1	SGCD	FKTN	TAFAZZIN
HP_DEATH_IN_ADULTHOOD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEATH_IN_ADULTHOOD	PMS1	DNAJC30	BCL7B	MLXIPL	VPS4A	MYH7	TGFBR2	VPS37D	RPS6KA3	PMS2	NCF1	MLH1	POLR3B	LAMC2	POLR3A	EIF4H	TYMP	ZMPSTE24	CST3	GTF2IRD2	LIMK1	FKBP6	ACTB	METTL27	MLH3	RFC2	PIK3CA	TBL2	TMEM270	SCN4A	MSH2	SLC9A6	GTF2I	FAN1	GTF2IRD1	TNNI3	MSH6	POLG	APP	BUD23	CLIP2	MYH6	EPCAM	KRAS	STX1A	BAZ1B	BCS1L	DSP	ELN
HP_SUPERNUMERARY_CUSP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPERNUMERARY_CUSP	CREBBP	NEK1	CHSY1	EP300	NHS
HP_ACRAL_OVERGROWTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACRAL_OVERGROWTH	GPR101	PRKAR1A	CAVIN1	AIP	GNAS
HP_ABNORMAL_LEUKOCYTE_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LEUKOCYTE_PHYSIOLOGY	FOXP3	EXTL3	TERT	RASGRP1	TRNT1	ADAM17	IFNGR1	KLHDC8B	DOCK8	TCF3	PRF1	IPO8	DOCK2	ADAMTS3	POMP	LAMTOR2	NSMCE3	IFIH1	CR2	PIK3R1	RNF113A	MYD88	SPIB	BTK	GP1BB	CNBP	RAC2	ZEB2	RREB1	SLC39A4	RAG2	CD247	NFKB1	CCND1	RFXANK	DNMT3B	FLNA	TYMS	VPS33A	SH3KBP1	MAGT1	ALG12	HLA-DQB1	CDCA7	IGHM	LRBA	SLC25A13	KRT74	NFKB2	RAG1	LEPR	TBX1	KNSTRN	STAT3	PGM3	IL6ST	FNIP1	XIAP	RFXAP	IL12RB1	GTF2E2	SKIC3	KRT9	REL	IRAK4	CD19	SMARCAL1	ICOS	CTNNBL1	IL12A	GBA1	SCARB2	FCGR3A	CD3D	SPI1	ALB	PTEN	CAVIN1	TOM1	IL6R	JAK3	IGKC	PIK3CD	POU2AF1	CASP10	AICDA	UNC13D	PTPRC	IKZF1	BLNK	STXBP2	IL21R	ZBTB24	ADA	RFX5	CARMIL2	NBN	CASP8	KRT5	POLE	SFTPC	EPG5	MS4A1	BCL10	IKBKG	MS4A2	VPS45	DGCR8	ZAP70	GPC3	TCF4	MRTFA	SP110	HELLS	UMPS	ITK	SLC39A7	MGAT2	TLR8	GATA3	SPINK5	SLC7A7	TNFRSF11A	BLM	COMT	CARD9	LCP2	RMRP	ZNF341	HLA-DQA1	AK2	NCKAP1L	ATP6AP1	RIPK1	SEC24C	GPC4	ATM	MOGS	PRKCD	MAN2B1	SON	DCLRE1C	WAS	TCN2	PIGT	KRT1	NLRC4	TYK2	LRRC8A	ADA2	SH2D1A	CARD10	PLVAP	TNFRSF13B	ARHGEF1	IRF2BP2	LEP	CDSN	CXCR4	NHEJ1	MSN	MTHFD1	KRT14	FAS	LIG1	CIITA	ERCC2	CD70	PNP	IL2RG	CD28	ITCH	IL4R	TFRC	CTLA4	LMNA	TNFRSF13C	COL1A1	CD40	CCBE1	MVK	TIMM8A	FAT4	ATP6AP2	HYOU1	TNFRSF1B	IL21	MTOR	CD79A	SIK3	TONSL	CD3E	STAT5B	PMM2	PSMB9	CARD11	COL7A1	DGCR6	TPP2	GTF2H5	TP53	AP3B1	NFE2L2	GPR35	SLC46A1	RAB27A	SETX	STING1	PLCG2	LAT	PSMB8	MPLKIP	SYK	BACH2	RNF168	FASLG	STAT1	CD81	TNPO3	RNU4ATAC	SAMD9L	CD79B	TTC7A	TNFSF15	CSNK2A1	HLA-DRB1	PEPD	PIK3CG	B2M	SPPL2A	ERCC3	ESS2	RTEL1	DGCR2	CD55	MYSM1	CISD2	OAS1	HIRA	STAT2	SFTPA2	LIG4	RBM8A	SKIC2	IVNS1ABP	TARS1	ARVCF	CTPS1	IKBKB	IL2RB	SLC35C1	NLRP1	PRIM1	PSTPIP1	COG6	UNG	ELANE	CARS1	NHLRC2	STX11	IRF5	SLC5A6	PLA2G7	MST1	CD27	MMEL1	SASH3	TGFB1	PSMB4	DEF6	OTULIN	IGHG2	SEMA4D	CD40LG	IL2RA	TNFSF12	JMJD1C	CD3G	IGLL1	NRAS	WIPF1	MUC5B	TRMU	UFD1	KRAS	IL7R	RPA1
HP_ABNORMAL_CIRCULATING_SEX_HORMONE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_SEX_HORMONE_CONCENTRATION	FSHR	NR3C1	CYP11A1	DMRT3	SMARCE1	ALMS1	BMP6	ZNRF3	PRKAR1A	CHD7	DHH	NR5A1	AR	PIK3CA	BNC1	TERT	PSMC3IP	SMARCB1	FGD1	NUP107	ZFPM2	MRPS22	NR0B1	GCNA	HFE	MRAP	VAMP7	SPRY4	DHX37	EIF2B2	WNT4	POR	GATA4	BAP1	INSR	GNAS	CYP17A1	SRY	EIF2B3	SMO	TP53	SPIDR	EIF2B5	NSMF	B4GALNT1	WWOX	SLC39A4	STAR	KISS1	LGR4	DCAF17	PDGFB	NDNF	LARS2	CTNNB1	HSD3B2	STAG3	FSHB	MAP3K1	CPE	POLR3A	GNRH1	HS6ST1	ZSWIM7	RBM28	FOXL2	CYP11B1	TRAF7	WT1	SUFU	PROK2	DUSP6	LEPR	AKT1	TXNRD2	CDKN2A	EIF2B1	MCM9	FGF8	WDR11	FGFR1	KISS1R	NFKB2	EIF2B4	CLN3	NR2F2	NF2	BMP15	POLR3H	TACR3	FGF17	ANOS1	LHB	TAC3	MC2R	SEMA3A	LEP	POLA1	GNRHR	NNT	PROKR2	SOX9	CTDP1	DMXL2	ESR1	XRCC2	ALG6	CYB5A
HP_BLISTERING_BY_ANATOMICAL_LOCATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLISTERING_BY_ANATOMICAL_LOCATION	COL7A1	ITGB4	KRT6B	FERMT1	LAMA3	KRT5	COL17A1	MMP1	LAMC2	DSG1	DSG3	ITGA6	KRT14	FBXO28	KRT6A	COL2A1	LAMB3	PLEC	PKP1	CD151	SMARCAD1	KRT17	KRT16	KRT1
HP_ABNORMAL_CIRCULATING_ANDROSTENEDIONE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_ANDROSTENEDIONE_CONCENTRATION	TERT	ZNRF3	TP53	CYP11B1	CTNNB1	HSD3B2	PRKAR1A	POR	CDKN2A
HP_LIVEDO	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIVEDO	STING1	ACTA2	ADA2	ATR	PDSS1	POLE	MYH11
HP_ABNORMAL_RENAL_VASCULAR_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_VASCULAR_MORPHOLOGY	TOM1	VHL	RET	ENPP1	KIF1B	SDHD	ABCG5	NF1	LDLRAP1	STAT1	MLXIPL	WDR19	APOB	FIG4	ABCG8	ALG9	POU3F4	YY1AP1	MAX	PNPLA2	JAG1	PCSK9	ADA2	LDLR	VAC14	TMEM127	ELN	SDHB	GEMIN4
HP_VIRAL_ENCEPHALITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VIRAL_ENCEPHALITIS	STAT1	TBK1	NCKAP1L	CD40LG	SNORA31	TICAM1	DBR1	CD27	HYOU1	IRF3	UNC93B1	TLR3
HP_REDUCED_PROGRESSIVE_SPERM_MOTILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_PROGRESSIVE_SPERM_MOTILITY	FBXO43	DNAH10	CFAP45	RPL10L	DNHD1	WDR19	IFT74
HP_ABNORMAL_CIRCULATING_GABA_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_GABA_CONCENTRATION	HFE	APP	NOS3	ALDH5A1	MPO	PLAU
HP_PERIPHERAL_CYANOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_CYANOSIS	TCF4	COL5A2	RNASEH2A	ELP1	SEPTIN9	KCNQ3	COL1A1	KCNQ2	RNASEH2C	TREX1	COL5A1	LSM11	RNU7-1	IFIH1	MVK	AGXT	RPS6KA3	ETHE1	PAX3	SAMHD1	ADAR	RNASEH2B	FUCA1
HP_FETAL_ANOMALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FETAL_ANOMALY	PIGN	RASA1	NDUFB10	ODC1	VPS37D	ABCD4	MECOM	HSPG2	GATB	CHRND	MTMR14	CTCF	ASCL1	EEF1A2	DEAF1	DNM1	TGM1	LBR	ACTA1	ZNF699	GABRA5	KCNQ5	COL11A1	CACNA2D1	CDK19	C9orf72	ADGRG6	IPO8	ALDH7A1	PIGY	RNU4ATAC	DYNC2I1	ADAMTS3	WASHC5	FBXO28	RMRP	MT-ND1	RPS24	LMOD3	MTM1	RET	ENPP1	WDR35	NPC2	DPYSL5	MAPT	SYNE1	VCP	TRPV4	NSD2	MAGEL2	SLC26A2	SPECC1L	DHCR7	RPS27	RASGRP1	ADA2	IL1RN	PTPN11	TAPT1	RPS28	NTRK2	ZMPSTE24	COL6A1	RRAS	CAMKMT	SMC1A	ACTL6B	RIT1	NUBPL	UBA1	LAMA5	MUSK	SLC3A1	ZBTB18	TUBA1A	COL1A2	TWIST2	RPS29	KBTBD13	GFPT1	STAG1	IGF2	LZTR1	DYNC2H1	MLXIPL	ASXL2	CACNA1A	CARS2	HSD17B4	VAMP1	GRN	RPL35A	COL6A2	CHRNG	MYH7	TXNDC15	TRIP13	FANCB	NDUFS7	PIEZO1	GLE1	FGFR3	YWHAG	ABCC6	EPHB4	ERGIC1	NUP88	NDUFA11	PACS1	MKS1	MYL2	GATA6	PTH1R	FKBP6	NDUFA1	FLII	RYR1	FLNB	TPM2	CHRNE	HNRNPK	DPH5	ATP8B1	PEX3	FANCF	DOK7	KLHL41	ATN1	EBF3	MDFIC	NDUFV2	RAI1	MPZ	COL6A3	MYPN	NEK9	GBA1	SLC30A9	ATP6V1B2	SLC27A4	CLIP2	HACD1	FIG4	ZBTB42	FOXF1	ZC4H2	SPEN	SCYL2	ERBB3	GABRA2	NDN	DPF2	CRPPA	IGHMBP2	RAD21	SOX10	NR1H4	SNAP25	HLCS	LETM1	NDUFS4	MYCN	CPLX1	MYL1	BUB3	NDUFAF2	SNORD115-1	CSGALNACT1	MYO9A	PPM1B	PKLR	SLC16A2	COL2A1	IKZF1	UROD	GLRB	NAA20	PWRN1	NRAS	ADA	NDUFV1	GNB2	RPL26	SCN3A	PWAR1	CALCRL	LMNA	SOX18	CLPB	DOHH	TCF4	RAPSN	TMEM126B	SLC25A1	CHAT	SCARF2	KIAA0586	PEX5	ERCC5	RAG1	ABCB4	PTRH2	RPS19	ADARB1	SELENON	AARS1	MGAT2	NDUFAF1	TRAK1	PSEN1	HCN1	VAC14	POR	NDUFS1	HBA2	BAZ1B	BIN1	RPS15A	OCA2	ELN	CCDC22	PHOX2B	SNRPN	PSAT1	TRAF7	TPM3	GGPS1	ATAD3A	NEB	PRKCD	PEX16	SON	EIF4H	PREPL	MYH3	NAA10	GLB1	NSF	BICD2	FGF13	MCTP2	ATP6V1A	PAK2	SLC13A5	NFASC	MCM10	COL25A1	ITGA7	PIGO	ZIC3	KLF1	TLK2	GYPC	NDUFS6	NDUFAF3	GUSB	DNM2	ARV1	TREM2	PLPBP	CELF2	AFF2	TRIP11	CNTNAP1	SYT2	NDUFAF4	ASCC1	FZR1	SYNJ1	FLT4	ALG8	RPS7	SOS1	BNC2	FAS	BUB1	COX15	CHMP2B	FXR1	BRD4	KLHL40	EIF5A	GRIP1	MAP3K20	CPSF3	CLCN3	WNT7A	SCN8A	QRICH1	MKRN3	MEGF10	MYOD1	NECAP1	RPS26	MYMK	MAP3K7	CACNA1B	CCBE1	IL7R	GPKOW	CBL	FAT4	COL13A1	TRIP4	CTBP1	PIGV	GATA1	RRAS2	METTL27	ATP1A3	SYNGAP1	WNT3	AP3B2	QRSL1	HDAC8	PI4KA	CNKSR2	FGFRL1	DHDDS	EFNB1	WDR62	H4C3	H19	GTF2IRD1	BSND	BUB1B	PMM2	CHD7	PEX19	MRAS	DNA2	IFT80	UQCRFS1	UROS	FGF12	FOXC2	ATP1A2	SLC5A7	RPL15	IL2RG	MYL11	RPL11	DPAGT1	RHD	PLOD1	TRAIP	PEX6	MMACHC	BCL7B	RPL27	VPS13B	SLC38A3	NCF1	GMPPB	IQSEC2	ALPK3	SLC6A9	TALDO1	NDUFA6	PPP3CA	WT1	PEX1	SZT2	NALCN	KIF5C	RAC1	MRPS16	AHCY	RFC2	RPS10	SLC35D1	FASLG	DDX6	TBL2	TMCO1	PEX13	HRAS	TRIM37	CHUK	KRAS	KIF20A	SPTA1	PAX7	GTF2I	CNTN1	EMC10	GABRB2	GPC6	DYNC2I2	BMPER	PIGG	NDUFS8	SQSTM1	CTSA	NDUFB9	PARS2	HERC2	NEU1	SLC25A26	TTC7A	PHGDH	RPL18	NELFA	KCNA2	ASAH1	RPL31	STX1A	NDUFB3	RPL5	EXOSC9	SLC17A5	DNAJC30	NPAP1	TBC1D24	FKBP14	CDC42BPB	COL12A1	CEP57	NDUFS2	RIPK4	NDUFAF8	NDUFAF5	DMPK	EPB41	PEX11B	SLC18A3	TSFM	SNORD116-1	SLC35A2	PEX12	MT-ND3	TIMMDC1	PLD1	DALRD3	PRUNE1	SOS2	FOXRED1	TSR2	DNMT3A	RAG2	CDAN1	TMEM106B	ALG9	IL2RB	TOR1A	LIG4	SMC3	ALG14	SPRED2	DNM1L	PEX10	SMN1	AGGF1	GATC	BUD23	NEK1	WWOX	PGAP2	USP7	RASA2	NEXMIF	CCDC174	NUP188	GABRG2	PEX2	RAF1	MT-ND2	OSTM1	KCNB1	CLTC	LGI4	RPS20	MYL9	NDUFS3	CAMK2B	PEX14	HADHA	NSD1	MYF6	DCLRE1C	AGRN	KANSL1	GRIN2D	HBA1	GBE1	POLR2A	NPC1	TTC26	NIPBL	B3GLCT	CASP10	PIGW	PIGA	ALG1	GTF2IRD2	LIMK1	RPS17	PGAP3	DHPS	TBCK	COL1A1	TMEM270	CHRNA1	GABBR2	CYFIP2	SCN5A	RPL35	UBA5	GLDN	NUS1	NDUFB11	OFD1	PIGS	EBP	SLC1A2	PEX26	SHQ1	USP18	HOXD13	SLC25A19	UNC45B	HADHB	SPTB	PIGL
HP_ABNORMAL_FETAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FETAL_MORPHOLOGY	BRD4	PIGN	RASA1	EIF5A	GRIP1	ABCC6	ODC1	VPS37D	MECOM	HSPG2	GATB	CLCN3	WNT7A	TGM1	QRICH1	LBR	GRN	ZNF699	COL11A1	C9orf72	RPS26	PIGY	RNU4ATAC	CCBE1	DYNC2I1	ADAMTS3	WASHC5	IL7R	CBL	RMRP	FAT4	RPS24	PIGV	GATA1	RRAS2	METTL27	ENPP1	WDR35	NPC2	DPYSL5	MAPT	VCP	WNT3	SLC26A2	SPECC1L	QRSL1	HDAC8	DHCR7	PI4KA	RPS27	RASGRP1	ADA2	EFNB1	TRIP11	PEX3	PTPN11	TAPT1	RPS28	GTF2IRD1	BSND	BUB1B	PMM2	CHD7	RRAS	MRAS	IFT80	UROS	FOXC2	SMC1A	RPL15	RIT1	LZTR1	LAMA5	IL2RG	MYL11	RPL11	ZBTB18	COL1A2	RHD	TWIST2	RPS29	PSAT1	PEX6	SOX18	STAG1	FANCB	MMACHC	BCL7B	DYNC2H1	MLXIPL	ASXL2	RPL27	CARS2	HSD17B4	RPL35A	PEX19	MYH7	NCF1	TXNDC15	TRIP13	PIEZO1	FGFR3	EPHB4	ALPK3	TALDO1	PACS1	MKS1	SLC27A4	WT1	GATA6	PEX1	GLB1	PTH1R	FKBP6	RYR1	FLNB	RAC1	MRPS16	AHCY	RFC2	PKLR	RPS10	HNRNPK	SLC35D1	FASLG	DDX6	TBL2	PEX13	HRAS	TRIM37	KRAS	KIF20A	FANCF	SPTA1	ATN1	GTF2I	MDFIC	GPC6	DYNC2I2	BMPER	SQSTM1	NEK9	CTSA	GBA1	SLC30A9	ATP6V1B2	CLIP2	NEU1	FIG4	TTC7A	ZBTB42	FOXF1	RPL18	DPF2	ASAH1	RPL31	STX1A	RPL5	SLC17A5	DNAJC30	RAD21	TBC1D24	NR1H4	HLCS	BUB3	CDC42BPB	CSGALNACT1	CEP57	COL2A1	CHMP2B	FAS	UROD	EPB41	PEX11B	NRAS	ADA	GNB2	RPL26	SLC35A2	CALCRL	PEX12	PLD1	DOHH	TCF4	SOS2	TSR2	RAG2	CDAN1	TMEM106B	SCARF2	KIAA0586	LIG4	SMC3	PEX5	SPRED2	PEX10	AGGF1	GATC	RAG1	BUD23	NEK1	RPS19	ADARB1	PGAP2	MGAT2	RASA2	PSEN1	PEX2	VAC14	RAF1	POR	HBA2	BAZ1B	RPS15A	ELN	CCDC22	RPS20	MYL9	TRAF7	PEX14	HADHA	PRKCD	DCLRE1C	PEX16	KANSL1	HBA1	GBE1	EIF4H	NPC1	NIPBL	CASP10	PIGW	PIGA	ALG1	NSF	GTF2IRD2	LIMK1	FGF13	RPS17	PGAP3	MCTP2	PAK2	NDUFB10	DHPS	MCM10	TBCK	ALG9	PIGO	ZIC3	KLF1	COL1A1	TLK2	TMEM270	GYPC	GUSB	SCN5A	RPL35	TREM2	OFD1	EBP	PEX26	FLT4	ALG8	RPS7	HOXD13	SOS1	BNC2	HADHB	SPTB	BUB1	PIGL
HP_ABNORMAL_FETAL_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FETAL_PHYSIOLOGY	BRD4	KLHL40	MAP3K20	NDUFB10	ABCC6	CPSF3	ABCD4	CHRND	MTMR14	CTCF	SNRPN	ASCL1	SCN8A	EEF1A2	DEAF1	DNM1	DOK7	MKRN3	ACTA1	MEGF10	MYOD1	GABRA5	LMNA	KCNQ5	CACNA2D1	PLPBP	NECAP1	CDK19	ADGRG6	IPO8	MYMK	ALDH7A1	MAP3K7	CACNA1B	GPKOW	FBXO28	DNM2	MT-ND1	COL13A1	FGF13	TRIP4	CTBP1	LMOD3	MTM1	RET	ATP1A3	CNTNAP1	DPYSL5	SYNGAP1	SYNE1	TRPV4	NSD2	MAGEL2	AP3B2	HDAC8	PREPL	CNKSR2	ENPP1	FGFRL1	DHDDS	IL1RN	NEB	WDR62	H4C3	H19	NTRK2	ZMPSTE24	COL6A1	PEX19	DNA2	UQCRFS1	CAMKMT	FGF12	CPLX1	ATP1A2	SMC1A	SLC5A7	ACTL6B	NUBPL	UBA1	HSPG2	MUSK	SLC3A1	BICD2	DPAGT1	RPL11	TUBA1A	PLOD1	KBTBD13	TRAIP	GFPT1	IGF2	CACNA1A	VAMP1	VPS13B	SLC38A3	COL6A2	CHRNG	NDUFS7	GLE1	MYH3	LETM1	YWHAG	NUP88	GMPPB	DHCR7	IQSEC2	ERGIC1	SLC6A9	ZC4H2	NDUFA11	NDUFA6	MYL2	PPP3CA	SZT2	NDUFA1	FLII	NALCN	RYR1	KIF5C	TPM2	CHRNE	DPH5	TMCO1	ATP8B1	CHUK	PEX3	KLHL41	PAX7	CNTN1	EBF3	EMC10	GABRB2	NDUFV2	PIGG	RAI1	NDUFS8	MPZ	COL6A3	MYPN	NEK9	NDUFB9	PARS2	HERC2	HACD1	SLC25A26	PHGDH	ZBTB42	SPEN	BIN1	NELFA	SCYL2	KCNA2	MYO9A	ERBB3	GABRA2	NDN	NDUFB3	OCA2	EXOSC9	CRPPA	NPAP1	IGHMBP2	RAD21	SOX10	SNAP25	FKBP14	NDUFS4	MYCN	MYL1	NDUFAF2	CDC42BPB	SNORD115-1	PPM1B	COL12A1	NDUFS2	SLC16A2	IKZF1	GLRB	NAA20	RIPK4	NDUFAF8	NDUFAF5	PWRN1	DMPK	SLC18A3	TSFM	NDUFV1	ODC1	GNB2	SCN3A	SNORD116-1	PWAR1	MT-ND3	TIMMDC1	CLPB	DALRD3	PRUNE1	FOXRED1	RAPSN	TMEM126B	DNMT3A	SLC25A1	CHAT	ALG9	IL2RB	TOR1A	SMC3	ALG14	DNM1L	SMN1	ERCC5	ABCB4	PTRH2	WWOX	SELENON	AARS1	USP7	NDUFAF1	NEXMIF	TRAK1	CCDC174	NUP188	GABRG2	HCN1	NDUFS1	MT-ND2	OSTM1	KCNB1	CLTC	LGI4	PHOX2B	PSAT1	NDUFS3	TPM3	GGPS1	ATAD3A	CAMK2B	NSD1	MYF6	SON	AGRN	GRIN2D	GBE1	POLR2A	ALG8	TTC26	NIPBL	B3GLCT	NAA10	PIGA	GBA1	FGFR3	ATP6V1A	SLC13A5	NFASC	COL25A1	SYT2	TBCK	ITGA7	NDUFS6	NDUFAF3	CHRNA1	GABBR2	ARV1	CYFIP2	MYH7	CELF2	AFF2	UBA5	GLDN	NUS1	NDUFB11	PIGS	SLC1A2	NDUFAF4	ASCC1	FZR1	SYNJ1	SHQ1	USP18	SLC25A19	UNC45B	COX15	FXR1
HP_THIRD_TRIMESTER_ONSET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIRD_TRIMESTER_ONSET	ALPK3	ZMPSTE24	SNAP25	PYCR1	ALG1	SHQ1	NUP155	POMK	TNFRSF11A	SDHA	PLG	FANCB	MDFIC	PRKAG2	GINS1	KMT2B	ZIC3
HP_SECOND_TRIMESTER_ONSET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SECOND_TRIMESTER_ONSET	ALPK3	NEK8	KIF14	MYRF	B4GAT1	MKS1	NDUFB7	SCN5A	TXNDC15	SIN3A	MDFIC	COL2A1	BMPER	TRIP11	ERCC5	RMRP	WT1	TCTN3	GFRA1	CREB3L1
HP_ABNORMAL_CSF_HOMOVANILLIC_ACID_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CSF_HOMOVANILLIC_ACID_CONCENTRATION	TSPOAP1	PNPO	NR4A2	GCH1	IMPDH2	DDC	NGLY1	TH	SLC6A3
HP_ABNORMAL_FETAL_CENTRAL_NERVOUS_SYSTEM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FETAL_CENTRAL_NERVOUS_SYSTEM_MORPHOLOGY	DHPS	MRPS16	ASXL2	DPYSL5	CDC42BPB
HP_ABNORMAL_FETAL_GASTROINTESTINAL_SYSTEM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FETAL_GASTROINTESTINAL_SYSTEM_MORPHOLOGY	NPC1	EIF5A	GNB2	HSD17B4	ZBTB42	FANCB	MDFIC	LBR	TRIP11	NPC2	ZIC3	PIGY	RHD	ZNF699	GATA1
HP_ABNORMAL_TEMPORAL_LOBE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TEMPORAL_LOBE_MORPHOLOGY	MT-ND4	ERCC6	TREM2	ABCC6	TYROBP	SLC20A2	TSC1	ACP5	PAH	SAMHD1	TREX1	ZBTB20	MYMX	IRF8	CPT2	RNASEH2A	MYORG	RNASEH2C	CYP2U1	CSF1R	TERT	RNU7-1	SNORD118	ADAR	KRAS	GNAQ	ECM1	ENPP1	COL2A1	NSMCE3	IFIH1	GNA11	CTNS	FAM111A	MT-TH	MT-TL1	NHP2	SLC25A46	OCLN	PDGFB	ERCC4	TNFRSF11A	GJA1	NOP10	PARN	PTH	LSM11	ERCC8	RTEL1	TINF2	DAG1	XPR1	VPS33A	SLC29A3	RNASEH2B	HLA-DQB1	SLC46A1	ERCC5	MYMK	PDGFRB	FAM20C	PSMB8	PTCH2	MGP	PTCH1	CTNNB1	GNAS	BRAF	CASR	COL11A1	USB1	CTC1	DKC1	CTSC	MT-ND6	PPFIBP1	CA2	NPM1	SUFU	QDPR	MT-TS2	PSMG2	PEX6	MT-TQ	STAT2	SC5D	MT-ND5	SMARCB1	MYO5A	JAM2	ERCC2	KRIT1	DENND5A	ODC1	KARS1	WRAP53	MT-CO1	FARSB	CLCNKB	ISG15	FGFR1	IFNG	COLGALT1	AP1S2	SLC26A2	AIRE	APP	TCIRG1	GATA3	RELN	TYMS	HLA-DQA1	NRAS	KATNB1	SLC4A4	KL	MT-CO2	NDE1	DNM1L	ERCC1	HRAS	OPA1	ZNFX1	MT-TF	ERCC3	DDR2	SLC2A1	PEX1	RNASET2	ACD	MT-CO3	USP18	MT-TW	SNRPB	ACVR1	AMER1	ATP7A	TSC2	TERC	MT-ND1	SLC12A3	SUCLA2
HP_OPEN_NEURAL_TUBE_DEFECT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPEN_NEURAL_TUBE_DEFECT	CEP290	FGF8	EOGT	PCYT1A	KATNIP	DLL1	HSPG2	FUZ	RPGRIP1	TBXT	AIPL1	SPATA7	TXNDC15	HYLS1	FKTN	B9D2	CC2D2A	GLI3	POLR1C	RNASEH2C	TCTN2	PAX3	B4GAT1	RNU7-1	GPKOW	FRAS1	TMEM107	AHI1	INPP5E	DLL4	FLVCR2	PIBF1	IQCB1	TBX1	ARMC9	COL18A1	RPE65	GP1BB	CBY1	VANGL1	NDE1	ZIC3	SIX3	DOCK6	RREB1	TMEM237	CSPP1	TMEM138	ARL13B	MSX2	RPGRIP1L	CDON	H19	TCTN1	FREM2	RDH12	RNASEH2B	CRB1	FANCB	LAMB1	CYP26B1	NOTCH1	FOXH1	KIF7	FGFR3	PTCH1	IFT140	SMO	TMEM67	TMEM218	HES7	TDGF1	MKS1	SIN3A	ARHGAP31	GMPPB	C2CD3	ALX4	KIAA0586	TMEM216	RD3	ARPC4	POMGNT1	CPLANE1	POMT1	CEP41	TMTC3	IMPDH1	CHD7	TUBB4B	TRIM36	B9D1	SUFU	ATP6V1B2	WDR81	TREX1	FIG4	PHGDH	USP45	CEP55	CEP120	TMEM231	NUAK2	GAS1	SHH	CRPPA	LCA5	POMT2	TBC1D24	ESCO2	PAK2	RNASEH2A	FKRP	KCNJ13	HIRA	POLR1D	TCTN3	TCOF1	OFD1	TOGARAM1	BMPER	DACT1	ZNF423	ARVCF	RBPJ	ALX3	ALX1	TULP1	SF3B2	CCL2	TBX15	POLR1B	LSM11	FLNB	STIL	CEP104	TGIF1	ZSWIM6	VAC14	COMT	SMOC1	NPHP1	SF3B4	FLNA	GDF6	ARL3	LRAT	IGF2	SEC24C	POMK	GRIP1	GUCY2D	FGFR1	KIF14	NODAL	NMNAT1	IFIH1	DISP1	SAMHD1	ADAR	CRX	JMJD1C	KCNQ1OT1	GLI2	LARGE1	VANGL2	ZIC2	HOXD13	VSX1	PORCN	SNRPB	UFD1	SC5D
HP_CLOSED_NEURAL_TUBE_DEFECT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLOSED_NEURAL_TUBE_DEFECT	CPLANE1	FLNA	FRAS1	GMPPB	IGF2	ARSB	SEC24C	NOTCH3	WNT7A	DLL3	GRIP1	HES7	CEP290	CYP27A1	NAXE	POMT1	FUZ	TBXT	FKRP	EXT2	ABCD1	SMO	VANGL1	GLI3	HIRA	POMT2	TBX1	FKTN	PAX3	SIN3A	GLB1	OFD1	GNPTAB	ALX4	KIAA0586	BTD	COL2A1	NMNAT1	ARPC4	EXT1	NF2	LFNG	COL18A1	CSPP1	B3GALNT2	BMPER	DACT1	MSX2	INPP5E	GP1BB	ARVCF	RASA1	TMEM216	JMJD1C	RIPPLY2	GALNS	ZIC3	KCNQ1OT1	RREB1	CCL2	DKK1	VANGL2	LARGE1	PORCN	H19	SNRPB	MESP2	POMGNT1	FREM2	ZSWIM6	COMT	UFD1	SC5D	GJA1
HP_PRENATAL_DEATH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRENATAL_DEATH	ALPL	PLIN1	SERPINC1	RHD	ESCO2	PTH1R	HSPG2	NSD2	MTMR14	FGB	HOXA13	COL2A1	LBR	MYF6	HBB	HYLS1	COL11A1	NEK8	MGP	JAK2	RYR1	MEG3	GBA1	WT1	RHAG	FLNA	CALCRL	RTL1	THPO	SERPINE1	MPL	SLC26A2	SLC35D1	RHCE	NLRP7	DLK1	RAD51C	POR	MUSK	DNM2	WRN	FGG	NSDHL	CENPF	REC114	TRIP11	RNU4ATAC	GDF5	CLN8	OSTM1	ZMPSTE24	PITX1	PHGDH	FLNB	CEP55	BIN1	ENG	ALB	IL6ST	FCGR3B	XIST	LGI4	FGA
HP_ABNORMAL_FETAL_GENITOURINARY_SYSTEM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FETAL_GENITOURINARY_SYSTEM_MORPHOLOGY	BNC2	KANSL1	TBCK	PIGA	MYL9	ZBTB18	FGF13	CLCN3	CDC42BPB	PI4KA
HP_ABNORMAL_CORNEAL_REFLEX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CORNEAL_REFLEX	SCN9A	NTRK1	LIFR	DST	ALG11	ELP1	WNK1	CLTCL1	KIF1A	RETREG1	ZFHX2
HP_APLASIA_HYPOPLASIA_OF_FACIAL_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_FACIAL_BONES	DNAJC30	BCL7B	MLXIPL	TWIST2	SEMA3E	VPS37D	VPS13B	NOTCH2	NCF1	PTCH1	VANGL2	EIF4H	POLR1C	CHD7	NBAS	GTF2IRD2	CNOT1	LIMK1	POLR1D	KRAS	TCOF1	FGFR2	FKBP6	DYM	BRAF	METTL27	FGFR1	COL11A1	RFC2	TBL2	OFD1	TMEM270	GLI2	POLR3A	NECTIN1	GTF2I	SF3B4	EDA	ALX1	GTF2IRD1	RUNX2	LMNA	MAP2K1	SF3B2	MTHFR	POLR1B	BUD23	CLIP2	PEPD	FIG4	CEP120	MAP2K2	STX1A	BAZ1B	SIX3	ELN	SMOC1
HP_GASTROINTESTINAL_ULCER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROINTESTINAL_ULCER	DNAJC30	BCL7B	MEN1	MLXIPL	VPS37D	WFS1	TTC7A	ASCC1	KIT	NCF1	EP300	COL7A1	MMP1	CISD2	EIF4H	SYK	MSR1	GTF2IRD2	LIMK1	TNFAIP3	SLCO2A1	FKBP6	PLG	CDKN1B	SRSF2	METTL27	RFC2	CDKN1A	TBL2	TMEM270	PI4KA	ARID1B	HPGD	GTF2I	CDC73	GTF2IRD1	TET2	XYLT2	BUD23	CLIP2	CTHRC1	AP2S1	CDKN2C	CDKN2B	PLA2G4A	ASXL1	GNA11	STX1A	BAZ1B	GBA1	ELN
HP_PHALANGEAL_CONE_SHAPED_EPIPHYSES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHALANGEAL_CONE_SHAPED_EPIPHYSES	TRPS1	MRPS28	MIA3	NEK1	TBC1D2B	SRCAP	IFT140	BGN	IFT172	FLNA	TRIP11	ATR	EIF2AK3	EXT1	FGFR3	KIF15	GPX4	COL2A1	IFT52	EVC2	RMRP	DYM	NPR2	IHH	COG4	PRKAR1A	EVC	GDF5	RUNX2
HP_REDUCED_CEREBRAL_WHITE_MATTER_VOLUME	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_CEREBRAL_WHITE_MATTER_VOLUME	ARF1	NDUFA9	SPTAN1	ASXL2	NDUFA6	ZNF335	TMEM147	PPP3CA	WDR45B	CHMP1A
HP_ABNORMAL_LEFT_VENTRICULAR_EJECTION_FRACTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LEFT_VENTRICULAR_EJECTION_FRACTION	SCN5A	TTN	RRM2B	LMOD2	SLC25A4	MYH6	LAMA4	VCL	DSG2	MYH7	BAG5	PSEN2	POLG2	TNNT2	LAMA2	FKTN	TNNI3	LMNA	NPPA	AARS2	COA6	NEXN	DES	TWNK	CRYAB	TTR	DYSF	B2M	CSRP3	RPL3L	SDHA	ACADVL	POLG	PSEN1	PPCS	RAF1	ABCC6	GTPBP3	SGCD	FHOD3	GATAD1	MYBPC3
HP_UNUSUAL_VIRAL_INFECTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNUSUAL_VIRAL_INFECTION	TOM1	IGKC	CD247	REL	IL2RG	MBL2	ARHGEF1	STAT1	RFX5	UNC93B1	NFKB2	RFXAP	WAS	POLR3F	RFXANK	FCGR3A	CD3D	UNC119	CASP8	TPP2	CD3E	BLM	IGHG2	CIITA
HP_INHERITANCE_MODIFIER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INHERITANCE_MODIFIER	PROKR2	CTNNB1	KIT	PARN	BCR	MPL	UBA1	NRAS	GPR161	GATA5	CREB1	MT-CO3	PIK3CA	MT-ND6	TERC	AR	TSC2	IFIH1	NPRL3	SIX1	TBK1	MYD88	FASLG	MNX1	VMA21	TAF15	KANK1	SDHB	RB1	TERT	EIF2AK1	LZTR1	TSC1	LHCGR	KRAS	SLC2A1	SRD5A2	PTPN11	TLR3	FOXE3	GPC3	AKT1	NR5A1	CCND1	GLI2	MLH3	SGCE	RPS14	OPCML	CFC1	SMAD9	PRRT2	ARMC5	BMPR2	ASPSCR1	WT1	GATA2	MT-ND5	KMT2C	VWF	PLAG1	MLLT10	NQO2	CDH1	SRC	BRAF	BRCA1	ERBB3	KIF11	SHH	PTPRJ	APC	SLC12A5	NLRP12	SUFU	GREB1L	DLC1	PPM1D	JAK2	IRF1	KLF6	ERBB2	HMMR	SCN4A	MT-ND4L	FGFR3	OTULIN	CHD8	NEK9	ATN1	HNRNPDL	CHEK2	CLCN2	NUP214	ELP1	SMARCB1	FMR1	SRGAP1	DNMT3A	MSH6	LRSAM1	KANSL1	MYC	GJB1	EYA1	GJC2	EP300	AXIN2	PTEN	RANBP2	CYP2A6	EWSR1	PTCH2	OPA1	PROK2	TP53	CASP8	IKZF1	MN1	DCC	CBL	KLF13	DDX41	PRPF8	GNB2	TOR1A	RAD54B	POT1	HDAC4	PIGT	ETV6	TAL1	PIGA	SMARCE1	ATP1A3	CRELD1	H19	RB1CC1	PAX6	SEMA6B	PTPN12	NF2	RPS29	SLC22A18	RARA	EGFR	PAX2	ESR1	SPAST	MT-ND1	ATXN10	ATXN1	COL4A1	MXI1	BRCA2	SH2B3	ATL1	MT-CYB	TM4SF20	FGFR2	PALB2	PRCC	FIGLA	GABRB3	HCN1	TGFBR2	PRPF31	MAP3K8	WWOX	GRIN2A	MSH3	MSR1	TLR2	MT-ND4	POF1B	STK11	MET	BUB1B	GJA8	SSX1	MTOR	CDC73	FLT3	PRKN	PDGFRL	GNB1	ATXN3	PICALM	RBM12	IDH1	HRAS	PHB1	NPRL2	FOXO1	RNF6	PLA2G2A	ASXL1	BAX	DZIP1	GPC4	MKRN3	CASP10	WNT10B	CACNA1A	EPHB4	RAD51	KMT2B	TRPV4	SCN1B	KIF5A	TET2	CPOX	NUMA1	PRKCG	TAL2	NRIP1	RTEL1	JAG1	CHRNA7	MFN2	PDGFRA	MAPK1	C1GALT1C1	PAX3	AIP	BCL10	COL4A2	NF1	CHIC2	GABRG2	CDH23	DCHS1	RAD54L	NPM1	ATXN2	FLCN	DCX	SF3B1	PDGFB	ARHGAP26	IL6	LZTS1	LRRK2	IL1B	ELOVL4	RELN	PIK3R2	CACNA1S	ABL1	TENM4	ATP1A2	SSX2	RORB	UCHL1	FGFR1	CACNB4	FH	FGF23	NBN	PTCH1	STAT1	KRIT1	XRCC3	DLX5	LPP	POU6F2	LIG4	TFE3	BARD1	INAVA	MCC	TTN	ACTN4	ZBTB7A	ANO3	RUNX1	PITX1	BRIP1	LRP5	CHRNA2	CHRNA4	CTLA4	SIX3	IGF2	MUTYH	GUCY2D	ATXN7	GJA5	SH3GL1	DLST	AURKA	BUB1	ASCC1	NR4A3	ZFHX3	EXT1	POLR2A	ERCC6	GNAS	ATP11A	MT-ND2	PPP2R1B	DSTYK	AXIN1	CAV1	ATM	PUM1	IL1RN	CTHRC1	DEPDC5	MT-ATP6	IGF2R	TICAM1	CALR	CEBPA	MINPP1	CILK1	SMAD4	KIF1B	MAD1L1	PAX7	THAP1	PKD2
HP_APPENDICULAR_SPASTICITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APPENDICULAR_SPASTICITY	PNPLA6	KIF2A	NDUFA9	SPG7	CACNA1E	AASS	HSPD1	PI4KA	SETX	NDE1	ALS2	OPA3	RNASEH2C	SPG11	FARS2	KCNJ6	CYP2U1	VPS41	RTN2	ALDH18A1	NDUFS7	NIPA1	FAR1	PLP1	PHGDH	IFIH1	ATL1	SPATA5L1	ELOVL4	SYNE1	GSX2	DDHD1	PDHX	SLC25A15	GLB1	MFSD2A	PCDH12	NDUFA13	KANK1	TRAPPC4	HMGCL	COX15	L2HGDH	KLC2	EIF2AK1	MECP2	ATP13A2	ERCC4	NALCN	ALG3	NDUFA2	STAMBP	UNC80	TAF1	GRIN1	GUF1	NDUFA12	ARX	RNASEH2B	TBCE	GFM2	FLRT1	NDUFAF2	KPNA3	LMNB1	KIF1A	CPT1C	ERLIN1	NT5C2	SLC30A10	WASHC5	WARS2	EARS2	SPTLC1	GALC	INTS8	GLRX5	FA2H	CLTC	AIMP1	ARL6IP1	PQBP1	DPH5	RNU7-1	KDM5C	DEGS1	NDUFA10	FBXO7	DYM	TMTC3	ATN1	COA8	DDHD2	CYP7B1	ACP5	EIF2S3	GATAD2B	PRDM13	GAMT	GRIA4	USP8	ASNS	MOCS1	VCP	POLG	NDUFS3	BICD2	PNP	ERCC6	PGAP1	VAMP1	RANBP2	MAN2B1	NDUFA4	PAX3	GBA2	SOX10	TANGO2	SEPSECS	COG2	SPTBN1	SRPX2	OPA1	SLC16A2	SOX4	MCOLN1	STXBP1	PRUNE1	CCDC88C	COASY	AP4B1	TSEN15	TMEM63C	NAA10	WDR45B	FUCA1	INPP5K	NDUFV1	AFG3L2	GSS	ABCD1	ATP6V0A1	KIDINS220	AP5Z1	EXOC2	GOT2	TBC1D20	REEP1	FCSK	PSEN1	IBA57	SLC19A3	PDHA1	COLGALT1	AP4S1	ERLIN2	MTRFR	APOE	PSAP	TPK1	TOE1	SPAST	GJC2	LSM11	NDUFS8	IDUA	WDR45	GPT2	APC2	FLNA	TRMT10A	CCT5	DSTYK	ERCC8	POLR3GL	CYB5R3	CNPY3	PET100	CACNA1D	YIF1B	UBAP1	SDHAF1	FBLN1	ALDH3A2	ATP6V1A	KCNC2	DNM1L	TUBA1A	SPTAN1	ARSI	HUWE1	PEX3	KIF5A	ERCC1	RAB3GAP2	AUH	C19orf12	MRE11	NFU1	CAPN1	EXOSC8	SDHD	SCN2A	TMX2	AP4E1	LYST	WWOX	SPART	RAB3GAP1	GFAP	AMPD2	B4GALNT1	LIAS	SIGMAR1	ATP6AP2	NDUFS4	STUB1	NDUFAF5	ENTPD1	LYRM7	SLC33A1	PLA2G6	ANKLE2	GBE1	HSD17B4	NDUFV2	ARSA	GLYCTK	HPDL	SACS	PAFAH1B1	AFF3	RAB18	RNF170	CSF1R	MT-ATP6	PPIL1	ARG1	UCHL1	SATB1	MAG	SDHA	THOC2	MARS1	PSMC1	SLC2A1	PHACTR1	WDR62	SLC18A2	MINPP1	MICOS13	SHMT2	ADAR	OSTM1	LIPT2	MTPAP	BCL11B	GM2A	NUP62	GCDH	CLCN4	SCN3A	CNP	EDNRB	OTUD6B	SOD1	VPS37A	MTFMT	PSAT1	UBE4A	TECPR2	ELOVL1	RARS2	LAMB1	COL4A2	SEC31A	CNTNAP2	KY	GTPBP2	CLIC2	ZFYVE27	NDUFAF4	PPP1R15B	BCOR	FOXRED1	TACO1	TBCD	RERE	SMC1A	ADD3	PRPS1	FUS	NEU1	L1CAM	KIF5C	VWA3B	SLC1A4	ZFYVE26	HACE1	PPFIBP1	WDR73	TTC19	TUBB3	MRM2	TREX1	KCNQ2	MOCS2	HEPACAM	NTRK2	GBA1	DARS1	NDUFS2	SYNJ1	ADGRG1	BSCL2	AARS1	RARS1	NDUFS1	LIPT1	DYNC1H1	RNASEH2A	COQ5	SPG21	VPS53	DTYMK	ODC1	KARS1	HSD17B10	RNF220	H4C5	SLC35A2	SDHB	CACNA1C	MRPS22	ELP2	LMX1B	TMEM222	ZFR	NSRP1	AP4M1	CYB5A	SOX2	ATXN10	CDC40	ACTL6B	TUBG1	GAN	SELENOI	NEXMIF	TNR	SATB2	GJA1	CAMK2B	SIX6	CYP27A1	NDUFAF6	REEP2	CTNNA2	PIGA	PRNP	ATRX	WDR48	MED13L	BTD	PEX16	SAMHD1	ATP5MC3	AIFM1	PRRT2	PRDM8	ABHD16A	ECHS1	CLN8	TFG	SURF1	AP1S2	ALG9	SHQ1	NAXD	DNAJC19	CTNNB1	MTHFR
HP_ABNORMAL_MUSCLE_TISSUE_METABOLITE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MUSCLE_TISSUE_METABOLITE_CONCENTRATION	KBTBD13	KLHL41	SCN4A	CACNA1S	MYH7	NDUFA4	TTN	SURF1	GAA	PNPLA2	PFKM	ISCU	COQ2	TPM3	COX6A2	PHKA2	MT-TN	ACTA1	COL6A2	TPM2	PHKA1	CPT2	ABHD5	AFG3L2	SUCLG1	ZFHX4	SELENON	PHKG2	CHCHD10	PYGM	NDUFS4	SDHA	SLC22A5	ENO3	KCNJ18	NEB	GYG1	KCNE3	MYPN	COL6A3	MSTO1	COL6A1	COQ8A	PHKB	GYS1	COL12A1	MT-TE	COL25A1	TRMU	GABRA3
HP_URETHROVESICAL_OCCLUSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETHROVESICAL_OCCLUSION	ITGB4	CHRM3	PLEC	SRCAP	NSD1	SETD2	BNC2	MID1	IGF2	APC2	HNRNPH1
HP_ELBOW_CONTRACTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELBOW_CONTRACTURE	ACTA1	MYH3	RNU4ATAC	ERCC6	MAP3K20	ESCO2	MYL1	GJB2	HS2ST1	TMEM43	COL12A1	LMNA	SPRTN	NIPBL	PTDSS1	FLNA	EXOC6B	FBN1	GNB2	FKBP10	FBXO28	EXTL3	EMD	IGF2	PLOD1	SYNE2	TMEM222	SLC26A2	UBA1	TRPV4	POR	SIK3	TBX3	FHL1	PYCR1	SLC39A8	CHST3	TOR1A	SCARF2	PITX1	DMD	CPT2	GNS	PIGY	NALCN	COL6A1	COL6A3	UNC80	KIF22	SELENON	SRD5A3	SYNE1	CAPN3	MYL11	WNT7A	FBN2	ECEL1	KY	JAG2	ERCC1	LGI4	SVIL	PLOD2	ALDH18A1	RARS2	DDR2	COL6A2	LIFR	TPM3	ERLIN2	RMRP	PSMB8	RSPO2	SLC25A46	SCYL2	ERGIC1	SLC6A9	PIGA	PLOD3	MAP3K7	PSTPIP1	MYL2	COL25A1	SYT2	TPM2	ITGA7	SLC29A3	TBX15	CRLF1	ATR	ANO5	B3GAT3	PIK3C2A	SNRPB	HACD1	B3GALT6	LARGE1	LMX1B	TFAP2A	FDFT1	LAMA2	P4HTM
HP_TOE_DEFORMITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TOE_DEFORMITY	COA7	PHYH	PDZD8	PCGF2	SPART	SNRPN	SOX5	GARS1	PEX7	MPV17	GBF1	MED12	KAT8	RAB3GAP1	AARS1	WIPI2	TELO2	LMNA	BCOR	HNRNPK	EGR2	MPZ	AEBP1	SETBP1	GNB4	PMP2	PMP22	NEK9	TCF4	SLC35A3	PLEKHG5	GLI3	SH3TC2	RSPRY1	MORC2	MYH8	SACS	TOR1A	HARS1	CCDC47	SLC35C1	MYOD1	BSCL2	XYLT2	RAB7A	KAT6A	REEP1	TMEM94	SBF2	INF2	INTS1	CCDC22	SF3B4	NDRG1	CTU2	OTUD6B	ZNF407	MFN2	SYT2	MAPK1	SOD1	ASXL1	DCAF8	CDC42	CREBBP	NRCAM	HSD17B4	PPP1R21	GJA5	EP300	UBE2A	NEFL	PIEZO2	DHCR7	EXT2	GDAP1	CPT1C	GDF6	RAB11B	SLC6A9	INTS8	SIGMAR1	HUWE1	USP9X	SMAD4	CHP1	TRPV4	CPLX1	DLK1	GJA8	DDX6	VCP	TMCO1	RTL1	PRX	PDXK	EZH2	ESCO2	BLTP1	FBN1	ATN1	TPM2	SIN3A	BMPER	PUF60	ARX	MED25	BPTF	EBP	THOC6	MEG3	KIF1B	CHCHD10	LRSAM1	RAB3GAP2	TMEM260
HP_ABNORMAL_GAMMA_GLUTAMYLTRANSFERASE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GAMMA_GLUTAMYLTRANSFERASE_LEVEL	GIMAP5	ALMS1	FCSK	SLC25A13	MICOS13	TREX1	LYRM4	KIF12	LIPA	MARS1	TTC26	COG6	XK	DCDC2	ABCB4	SLC37A4	PKHD1	BCS1L	DEF6	SLC51B	SLC51A	MPV17	MRPL3	DZIP1L	PKD2
HP_MORTALITY_AGING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MORTALITY_AGING	PMS1	EXTL3	COX5A	NDUFA2	VPS37D	HSPG2	C2orf69	NSD2	MTMR14	GLE1	ASCL1	LBR	SFTPB	MYL2	LIPA	LTBP4	HYLS1	COL11A1	RNASEH2A	ETFA	FRAS1	GNPTAB	RET	FCHO1	THPO	NPC2	ELOVL4	SUCLG1	ACTG2	ATP1A2	SLC26A2	DPM2	PEX26	SLC25A4	MFSD2A	MSH2	PSAT1	LMOD1	REC114	COX16	GPR161	PEX16	SUOX	FGFR3	RINT1	VPS33A	ABCA3	FREM2	PEX6	FCGR3B	XIST	ABCB11	MLXIPL	VPS4A	ERCC5	MTX2	NADSYN1	PLCB3	RPS6KA3	FANCB	VIPAS39	NEK8	RMND1	PSAP	FKBP6	AIMP1	VPS33B	ASXL3	SERPINE1	MPL	DPH5	PEX3	PQBP1	ETFB	WRN	MDFIC	MPI	ARX	PEX2	CLIP2	COASY	HMGCL	EFL1	SCYL2	ALB	ROR2	GDF5	WT1	VPS50	FTO	POMT2	NRAS	NR1H4	NUP214	MYL1	PIGB	STT3B	FOXF1	ATP7A	COL2A1	PTPRC	FGG	TSEN54	LHX4	LTC4S	ITGA6	LAMA3	INTU	CALCRL	MYLK	HESX1	LMNA	RHCE	COX10	PLEC	SLC33A1	EPG5	TSEN2	SLC9A6	MADD	MRPL44	CENPF	REV3L	PEX5	GPC3	PIGY	ERCC6	MSH6	FKRP	APP	CLCN3	FLNB	PLXND1	HEXB	TNFRSF11A	ADCY5	MRPL3	BAZ1B	ELN	ERCC1	PKHD1	CCDC22	TK2	CLCF1	ATP6AP1	PHOX2B	GPC4	ATAD3A	NADK2	CDON	FLI1	ETFDH	POLR3A	EIF4H	GLB1	NSF	AP1S1	GBA1	NDUFB10	FLNA	NXN	LAMB2	ZIC3	NFU1	DLL3	COX8A	OCRL	NLRP7	EXOSC8	DNM2	ALG11	RNASEH2C	MYH11	LAMB3	TRIP11	GRM7	PTF1A	NDUFAF3	PET100	ACAD9	FADD	LYRM7	ETHE1	AMT	ERCC2	POLG2	FGA	TMEM260	BMPR1B	VPS35L	KLHL40	RHD	PRPS1	NDUFS6	EDNRB	ITPA	ATP5MK	AFF3	NDUFV1	HDAC6	JPH2	ZMPSTE24	WDR11	CST3	SIK1	MEG3	RPL3L	PPIL1	SOST	METTL27	ATPAF2	SATB1	DYNLT2B	QRSL1	NDUFS4	CDK5	FAN1	MPDU1	GTF2IRD1	CPT2	TNNI3	OSTM1	PMM2	LIPT2	AARS2	MBTPS2	POLG	SMPD4	TFAM	PEX1	KRAS	BCS1L	TPP2	SDHD	PAICS	ALPL	TMEM70	PLIN1	GLUL	RARS2	BCL7B	SEC31A	PIP5K1C	RAB27A	MYH7	GFAP	GCSH	ECHS1	GPHN	PEX19	NCF1	HOXA13	MLH1	FAM20C	LAT	NDUFAF4	DHCR7	PSMB8	POLR3B	MGP	JAK2	SCO2	UBR1	ATG7	FAM111A	DCX	ACTN2	ACTB	CD96	MRPS16	RFC2	SLC35D1	NPHP3	PIK3CA	TBL2	PEX13	DLD	PPFIBP1	KIF20A	MUSK	ACOX1	GTF2I	CNTN1	MRM2	BRAT1	STX3	DOLK	ERCC4	FGB	DSP	CRTAP	TTC7A	PHGDH	ANTXR2	MOCS2	ROBO1	CEP55	BIN1	TARS2	ENG	IL6ST	FXR1	STX1A	STAT2	SLC17A5	ITGB4	DNAJC30	ESCO2	CTSD	PTH1R	GLDC	NAXE	HTRA2	NDUFB11	OAS1	PEX11B	TSFM	DTYMK	TIMMDC1	KARS1	RYR1	C18orf32	GLI3	RHAG	PEX12	MRPS22	PROKR2	RBM8A	DLK1	RAD51C	POR	MYO5B	WASHC5	EMG1	TPI1	IKBKB	BOLA3	TOR1A	ORC1	ALG14	DNM1L	PEX10	SMN1	CDC40	GATC	COG6	ACTL6B	BUD23	NFIX	NHLRC2	FARS2	NFS1	PITX1	MYH6	CRLF1	EPCAM	SMO	SNAP29	SLC25A24	PPCS	SMOC1	LGI4	SERPINC1	LIPT1	ABAT	TUFM	TGFBR2	GRIP1	PEX14	KRT5	PMS2	SURF1	LIFR	LAMC2	MYF6	HBB	NEB	SLC25A46	ALG8	TTC26	TYMP	MT-TN	PIGA	ALG1	GTF2IRD2	LIMK1	ATRX	LMOD3	SMARCD2	ACADVL	CRIPT	RTL1	ZNFX1	MESP2	MLH3	EXOC8	TMEM270	SCN4A	LMOD2	MRPS34	MFF	JAM3	AIMP2	IDUA	NSDHL	CD3G	RNU4ATAC	GAD1	CLN8	OGDH	TSPYL1	SLC25A22	TRMU	SLC25A19	SNRPB	NAXD
HP_SMALL_POSTERIOR_FOSSA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_POSTERIOR_FOSSA	DKK1	TAF8	FUZ	MRE11	SOX3
HP_CHROMOSOME_BREAKAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHROMOSOME_BREAKAGE	BRCA1	RAD51C	NF2	SMARCE1	BLM	FANCF	FANCE	BAP1	XRCC2	PALB2	FANCA	TMEM185A	SMO	TRAF7	RNF168	COX4I1	MAD2L2	SUFU	MCM4	FANCI	ERCC4	PIK3CA	TERT	FANCD2	SMARCB1	FMR1	AKT1	BRCA2	FANCC	FANCL	PDGFB	RAD50	BRIP1
HP_PROMINENT_COCCYX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_COCCYX	MASP1	SH3PXD2B	COLEC10	TAF1	COLEC11	TBX15
HP_FINGER_CLINODACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FINGER_CLINODACTYLY	UBA2	PIGN	BCOR	WDR4	SEMA3E	ODC1	FANCB	VPS37D	TBX1	PHF21A	NSD2	CTCF	CUL7	CPLANE1	UBE2T	DEAF1	CASZ1	COL11A1	KIAA0753	BMP4	RNU4ATAC	WIPI2	ORC1	PIGL	IGF2	IFT140	FZD2	EVC	CDT1	MEGF8	SPOP	HSPG2	GDF5	ATP2B1	TCF4	ZC4H2	TWIST2	TGDS	PTPN11	LIG4	ANKRD11	CCDC8	RRAS	OBSL1	PCNT	BMP2	SMC1A	RIT1	HNRNPR	PIEZO2	PHIP	DYM	BHLHA9	ORC4	KCNJ2	PALB2	BMPR1B	CREBBP	CDC6	GJA1	TOPORS	MLXIPL	SATB2	BRCA2	H3-3B	JAG1	NARS2	TP63	TRIP13	AP1G1	AGO2	GDF1	PRDM16	STAG2	KNSTRN	SH3PXD2B	TCF20	NKX2-5	C12orf57	IGF1	FKBP6	FLII	MAN1B1	RAD51C	KMT2A	KIF7	TRIO	PDPN	MAD2L2	FANCA	RAI1	ATR	RUNX2	GJA5	SLC2A10	GATA6	ATP6V1B2	CLIP2	BRIP1	GATA5	XRCC4	MAP1B	TRRAP	GATA4	RFWD3	DPF2	ROR2	PDE6D	SPRED1	RAD21	TBX5	SLC9A7	BUB3	KDM4B	TMEM147	CSGALNACT1	PTH1R	DLX3	CUL4B	NAA20	GABRD	KLF13	NRAS	CHD7	GNB2	EVC2	PAFAH1B1	ALG12	OFD1	CNOT2	BRCA1	UBE3B	HIC1	PACS1	ZFPM2	GRB10	ALX3	REV3L	RB1	GPC3	FLT4	LTBP1	PIGY	CCDC32	TBX15	MECOM	B3GLCT	EMG1	MECP2	MMP23B	PLXND1	MAPK8IP3	PRKACB	B3GALT6	BAZ1B	ELN	AKT1	KIFBP	POLA1	IFT122	EP300	LZTR1	GPC4	KCNJ11	ATRIP	USP7	CHRNA7	FLNB	EIF4H	SHANK3	NAA10	CKAP2L	ERCC4	MCTP2	SOX6	KDR	NXN	GJA8	RBBP8	ZNF462	MBD5	SRCAP	PRR12	BRF1	MASP1	AUTS2	NONO	PUF60	HNRNPH1	SNRPB	CCNQ	TBX4	SOS1	AMER1	TRAPPC9	TRPV4	LMNA	ACVR1	RSPRY1	DACT1	BUB1	FANCC	CNOT3	CEP152	BRD4	NEK1	HOXD13	H19	LMNB2	BLM	RPL10	CLCN3	KCNK4	FGFR2	PNPLA6	QRICH1	COG5	HMGA2	RAB18	MEG3	CBL	SPEN	AMMECR1	RRAS2	METTL27	DVL3	STAG1	XYLT1	SKI	TCTN3	HDAC8	ORC6	ARID1B	NKX2-6	SIK3	WNT5A	EFNB1	H4C3	GTF2IRD1	BUB1B	WDR35	KDM1A	FGF16	MRAS	SMARCA2	CEP57	UBE3A	TRPS1	IHH	FGFR3	MYL11	MYCN	DSP	CITED2	PAICS	BCL7B	MAPRE2	TRAIP	VPS13B	NPR2	MACROH2A1	SPECC1L	NCF1	HOXA13	CANT1	CRKL	TWIST1	IQSEC2	EXT2	LMX1B	RERE	LUZP1	UBR1	PIK3CD	ATG7	CD96	WDR19	RFC2	ABL1	COG8	PIGH	FANCD2	BRAT1	KAT6B	TBL2	PACS2	KRAS	RNF216	GTF2I	OGT	FANCI	DONSON	KCNAB2	MED12	ABCC8	BPTF	SIAH1	ZMYM2	ALDH1A2	GMNN	TFAP2A	MAPK1	CEP55	PQBP1	KDM6B	XRCC2	CENPE	CENPJ	MAF	CDH11	STX1A	HEATR3	HOXA11	NIN	DNAJC30	KPTN	TBC1D24	JUP	NSUN2	DVL1	ZNF292	BCR	NIPBL	SNRPN	YWHAE	KAT8	RAB23	TELO2	PLAG1	EIF4A3	TFAP2B	PRKCZ	NUP37	AFF2	PPP2R1A	NOG	RBM8A	SOS2	NUP85	DLK1	CHSY1	IFT52	PTEN	FGD1	ALX1	SMC3	SPRED2	FANCF	HDAC4	BUD23	NFIX	ESCO2	RASA2	NEXMIF	IRX5	RAF1	SHOX	MEF2C	SMOC1	PKDCC	MIA3	CDKN1C	FANCM	PITX1	SLX4	UBE4B	KMT2B	IFT43	PLK4	LEMD3	GTF2IRD2	LIMK1	CDC45	FANCL	ATRX	DHPS	EPB41L1	TMEM216	RTL1	DPAGT1	TMEM270	L1CAM	SIN3A	BRAF	FANCE	FANCG	PIGS	FAM149B1	SALL1	YY1AP1	RAD51	MAP3K7
HP_CLINODACTYLY_OF_THE_2ND_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLINODACTYLY_OF_THE_2ND_FINGER	CHSY1	IFT140	KNSTRN	MED12	PIK3CD	HNRNPR	CSGALNACT1
HP_CLINODACTYLY_OF_THE_3RD_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLINODACTYLY_OF_THE_3RD_FINGER	PKDCC	RTL1	DLK1	MEG3	KNSTRN	PIK3CD
HP_CHORIORETINAL_HYPOPIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHORIORETINAL_HYPOPIGMENTATION	SLC25A15	SIM1	MAGEL2	VPS33A	DCT	TSC2	IFNG	PAX6	TSC1	WT1
HP_ONYCHOGRYPOSIS_OF_FINGERNAIL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ONYCHOGRYPOSIS_OF_FINGERNAIL	KRT6A	KRT6B	KRT17	KRT16	DVL3	DVL1	FZD2	WNT5A	COL7A1
HP_ABNORMAL_HEMIDIAPHRAGM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEMIDIAPHRAGM_MORPHOLOGY	NR2F2	ALDH1A2	GNE	GATA6	WT1	CDC42BPB	NDUFAF5
HP_ABNORMAL_LEFT_HEMIDIAPHRAGM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LEFT_HEMIDIAPHRAGM_MORPHOLOGY	NR2F2	ALDH1A2	GATA6	WT1	NDUFAF5
HP_MACULAR_EDEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_EDEMA	KLHL7	IDH3A	ARHGEF18	TSPAN12	TREX1	LRP5	NR2E3	PRPH2	RHO	PRPF31	REEP6	HLA-A	DHDDS	PRPF8	NRL	RDH5	PDE6G	CYP4V2	MFRP	ZNF408	ARL3	FZD4	CTNNB1	POMGNT1	KIAA1549	RP9	RLBP1	NDP	RP1L1	NOD2	VHL	CCND1
HP_ABNORMALITY_OF_LOWER_EYELASHES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_LOWER_EYELASHES	SF3B4	TWIST2	TCOF1	GJA8	GJA5
HP_DECREASED_ADIPOSE_TISSUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_ADIPOSE_TISSUE	POLR3A	SOX18	ERCC3	ERCC2	RNF113A	LMNA	AGPAT2	TOP3A	LIPE	FOS	CAV1	PSMB8	LMNB2	MPLKIP	GNB2	NAA10	PPARG	ZMPSTE24	BSCL2	KCNJ6	IGF1R	H4C5	INSR	SLC2A2	ERCC8	RBM28	SLC25A24	GTF2E2	TGFB3	TARS1	KCNK9	PLIN1	FBN1	CIDEC	ATP6V1E1	ATP6V1A	ERCC6	PRIM1	ERCC4	TGFB1	CARS1	SKI	PTF1A	CAVIN1	LEMD2	GTF2H5	BLM	FH
HP_ABNORMAL_LOWER_LIMB_BONE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LOWER_LIMB_BONE_MORPHOLOGY	MKKS	SEMA3E	COL2A1	CYP27B1	POU1F1	GDF5	CTCF	BHLHA9	CUL4B	HS2ST1	TREX1	CDKL5	HOXD13	CPLANE1	ZBTB20	RPGRIP1	LMNA	GPC4	LBR	HYLS1	B9D2	EP300	RNU4ATAC	RMRP	GNPTAB	CAMK2A	PRKAR1A	FKRP	FZD2	CDT1	TCIRG1	MEGF8	TRPV4	NSD2	SCN9A	ZMPSTE24	SHH	TCTN3	GP1BB	GNAS	TBXAS1	MYH8	DYNC2H1	KCNN3	TAPT1	CHSY1	ZEB2	TRAF3IP1	XYLT2	B4GALT7	DOCK6	CCDC8	COL10A1	TMEM237	TPM2	OBSL1	SKI	CSPP1	RINT1	HNRNPR	DAG1	NALCN	RPGRIP1L	TMEM67	ZNF407	KCNJ2	PALB2	FGFR3	COL1A2	PTH1R	TP63	CREBBP	NRCAM	POLR3A	CDC6	TPO	TOPORS	TNNI2	SATB2	BRCA2	DDRGK1	DVL1	NOTCH1	TRPS1	CFAP410	NOG	GLE1	WNK1	MAP3K20	KAT6B	AARS1	PRG4	TMEM218	ERGIC1	MAFB	PTPN2	COL1A1	BMPR1B	NEK8	PIGQ	MKS1	BPNT2	C12orf57	NPHP3	CC2D2A	DYM	RUNX2	LARGE1	DPH5	HSPG2	KDM5C	COG1	LHX3	BAP1	MAD2L2	SMARCAL1	CHD7	SLC39A13	COL4A1	NEK9	SMC1A	SUFU	LTBP3	RECQL4	IL2RA	POMGNT2	BRIP1	EXT2	COL9A1	FGF9	DHCR24	TBCE	TRRAP	SCYL2	TMEM107	NDN	SIK1	SCN1B	ALOXE3	FBN1	PTHLH	MAN2B1	SRY	RAD21	GNA11	FLNB	LETM1	MYCN	SNORD115-1	NGLY1	GABRD	STXBP1	PIK3CA	LAS1L	SHOX	GALNT2	RIPK4	IGF1R	UBR7	GRM7	HDAC4	ABCC9	COL3A1	FUCA1	INTU	SRP54	MMP14	SALL1	SAMD9	TCF4	UBE3B	CIBAR1	ZNF423	FLNA	UFSP2	WNT5A	RBPJ	MEG3	GPC3	ERCC5	FBLN1	SGMS2	ADAMTSL1	RAG1	LRP5	KIF22	PRMT7	EMG1	VPS13B	CANT1	MAPK8IP3	TNFRSF11A	VAC14	ASXL1	CCDC28B	GTF2E2	ZMIZ1	SEC24C	WASF1	NOTCH2	PHF6	FLI1	NDE1	IFT140	TCTN2	TMEM53	ERCC6	LZTFL1	DYRK1A	EFL1	NXN	GJA8	SNRPN	MAGEL2	KCNH1	PRR12	KIF1A	COMP	MASP1	HADHA	IFT80	TRIP11	SOX9	DUOX2	MMP13	HNRNPH1	DYNC2I1	MATN3	SLC35D1	PLEKHM1	SIM1	PIK3CD	ACVR1	FANCC	ATP7A	PRKACB	VPS35L	BRD4	PPM1D	LMBR1	GRIP1	NEK1	HBA1	KATNIP	MGAT2	FGFR2	COL9A3	TSHB	B3GALT6	MMP9	NF1	DOK7	MKRN3	FGFR1	COL9A2	KCNJ5	GLI3	NANS	MAP3K7	CSF1R	IFT52	CRPPA	CTBP1	AMMECR1	DVL3	ATPAF2	MBD5	XYLT1	TSHR	SATB1	TBX1	DYNLT2B	ARMC9	ORC6	INPPL1	TGFB1	BMP4	GLA	FGFRL1	TONSL	SMOC1	ZNF141	PEX5	GJB2	COL11A2	CCDC47	H4C3	SLC25A22	TMEM231	RTL1	WDR81	SMPD4	GNAO1	CHD4	CPLX1	PEX1	LEMD2	WNT7A	DLL4	RAB23	ERCC2	HOXA13	MYH3	HOXD10	CRKL	INPP5E	KDELR2	PIGV	EOGT	TRPV6	EN1	TBX22	ARX	TMEM216	SMAD4	ACTB	ARCN1	ADGRV1	PPIB	UBE2A	TGFB3	CHUK	BBS2	MUSK	HDAC8	RASA1	IFIH1	GPC6	FANCI	PIGG	DONSON	SLC26A2	B9D1	HERC2	CRTAP	PIGN	GMNN	PHGDH	MAPK1	CEP120	XRCC2	ASAH1	HEATR3	OCA2	WDR19	ROR2	TBC1D24	SLC10A7	NSUN2	GATA4	ATRX	PLAA	PCNT	BMPR1A	HIRA	FKBP10	DLX5	EIF4A3	SALL4	GLB1	OFD1	TFAP2B	AEBP1	PRKCZ	SETBP1	TOGARAM1	HDAC6	CAMK2G	SETD5	EVC2	B3GALNT2	SBDS	DLK1	AGPS	TWIST1	COL11A1	POR	RAG2	ARVCF	PUF60	PTEN	ORC1	FGD1	KIF14	KCNJ8	SCN1A	FANCF	RPL13	GLI1	DCHS1	NFIX	PITX1	CTC1	SMO	CERT1	CEP104	NUP188	MET	TBX4	RELN	AHI1	MIA3	SCN2A	SH3PXD2B	KATNB1	GJA5	TBL1XR1	HESX1	TMEM138	LIFR	FANCM	PAPPA2	HINT1	UBE4B	TTC26	ATP6AP2	PPP2R3C	EPB41L1	NPR2	TBX15	DDR2	USP9X	RNF2	DDX59	NEUROD2	ORC4	JMJD1C	GALNS	SLC34A3	B3GAT3	FANCE	FANCG	FAM149B1	ANAPC1	BBS1	LMX1B	PORCN	RPS6KA3	TP53	SC5D	GUSB	EXTL3	IARS2	CTSK	FANCB	IFT122	FBXL4	HTT	ARSL	UBE2T	IFNGR1	CASZ1	KIAA0753	PSAP	IPO8	LEMD3	STX1B	WDR35	MECP2	DHCR7	TMEM38B	ATP6V0A2	RSPRY1	CBY1	TGDS	LIG4	MMP2	CHEK2	ALOX12B	EXT1	RREB1	KAT6A	GPX4	POMK	TTC21B	CLCN7	BMP2	EXOC7	CD96	TINF2	LAMA5	TCTN1	ADAMTS10	GJA1	MTX2	CEP290	ALG12	GFM2	POMT1	DYNC2I2	PCYT1A	CHRNG	TXNDC15	IYD	HSPA9	PRDM16	NUP88	PIGF	DMXL2	KIAA0586	RAD51C	DUOXA2	RETREG1	SKIC3	KIF7	ANKH	BBS9	ADAMTS2	PDPN	CEP41	WRN	PRKG2	FANCA	PHYH	INPP5K	ATR	CHST11	EVC	PDE4D	TNFRSF11B	SLC2A10	ATP6V1B2	FIG4	MYBPC1	RFWD3	RXYLT1	CYP2R1	PDE6D	IDUA	SVBP	KDM4B	CSGALNACT1	DYNC2LI1	PWRN1	ENPP1	ADA	CLCN5	CDC45	TG	PWAR1	GABRG2	BRCA1	DMP1	TNNT3	DNMT3A	ARHGAP31	SCARF2	P3H1	SLC35C1	GABBR2	CHST3	CENPE	B3GLCT	UNC45A	MMP23B	POLR1A	COMT	PHEX	GBA1	AFF4	ERCC1	FKTN	SF3B4	AKT1	KIFBP	PSAT1	B4GAT1	RB1	NTNG1	CASK	IHH	SIL1	WDR26	CCN6	NAA10	KNSTRN	HUWE1	ERCC4	COL25A1	HBA2	SLC29A3	SMARCA2	EZH2	PIGP	ABCA12	BRF1	HCN1	CILK1	AMER1	GABRA1	DACT1	VDR	FMR1	CD247	ADAT3	SPART	LMNB2	WNT10B	AFF3	FN1	POP1	HPGD	IL7R	SPEN	PIBF1	SLC12A2	ARID1B	TBX3	SUMF1	EFNB1	H4C9	TENT5A	PAPSS2	EXOC6B	EBP	POC1A	FAM50A	IL2RG	MYL11	FBN2	ECEL1	ALPL	IFT74	IFT172	TRIM8	BGN	SPECC1L	ANKRD55	AIFM1	FBXO11	POMT2	PCDH19	MGP	GDF6	ZC4H2	LUZP1	KIF5C	EED	COG8	FANCD2	DDX6	ARL13B	IL2RB	NEPRO	POMGNT1	CDH11	TUBB3	GHR	TRAPPC2	STAT4	KCNAB2	TMEM251	PROP1	CCBE1	PIK3C2A	ZMYM2	NKX3-2	PI4KA	PEX2	NELFA	RBM10	MAF	ADAMTSL2	KCNA1	NPAP1	ALMS1	CDC42BPB	RERE	BCR	DYNC1H1	SRCAP	CUL7	LHX4	ACAN	GNPTG	TELO2	KIAA0825	SNORD116-1	SLC35A2	PTPN22	COG4	C2CD3	SUCLG1	RBM8A	MADD	ARL6	SERPINF1	PEX7	RAB33B	TOR1A	SMC3	EIF2AK3	DNAJC21	SYT1	LRP4	USP7	SLC5A5	ESCO2	PIEZO2	ZSWIM6	ARL6IP6	GJB6	RAB3GAP2	PLOD2	ARL3	SON	CYP27A1	GORAB	DCLRE1C	SLX4	KANSL1	NIPBL	PLOD3	FANCL	MSL3	PIGL	SCNM1	FAT4	GRIN1	HADHB	WLS	RET	SIN3A	NSDHL	OTUD5	COX4I1	MED25	PIGS	APC	CLTCL1	HEPHL1	RAD51	FIBP	UFD1	PRKACA	KMT2A	PNKP
HP_ABNORMAL_UPPER_LIMB_BONE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_UPPER_LIMB_BONE_MORPHOLOGY	EOGT	EXTL3	MKKS	KAT6B	CTSK	FANCB	COL2A1	VPS37D	IFT122	MECOM	LRP4	GDF5	LMBR1	BMP1	BHLHA9	HS2ST1	IFT43	HOXD13	KIAA0753	CPLANE1	UBE2T	LMNA	FGFR2	SHH	GPC4	LBR	ACAN	FLNA	EP300	MEGF8	RNU4ATAC	CANT1	KRAS	SALL4	HFE	GNPTAB	RECQL4	FBXL3	PRKAR1A	IFT140	ASXL1	TRPV4	TCF12	DHCR7	ZMPSTE24	GLI3	RSPRY1	LONP1	DYNC2H1	PTPN11	FBN1	TAPT1	LIG4	MMP2	CHSY1	B4GALT7	DOCK6	MED12	CREB3L1	CCDC8	GPX4	COL10A1	RRAS	OBSL1	FGFR3	SKI	BMP2	RBM10	SMC1A	FANCC	SLC26A2	RIT1	HNRNPR	DYM	CD96	LAMA5	TMEM67	KCNJ2	PALB2	ADAMTS10	MTX2	TWIST2	BMPR1B	ALG12	TP63	CREBBP	POLR3A	SPARC	DDR2	USP9X	NPR3	TOPORS	MLXIPL	SATB2	BRCA2	ASXL2	DHODH	DVL1	CYP26B1	PCYT1A	NOTCH1	FGF9	RPS6KA3	CHRNG	CHN1	PSMD12	TBX3	NALCN	SMO	RPL26	TWIST1	TBX22	MAFB	PTPN2	FGF10	KNSTRN	SH3PXD2B	GNAS	COLEC11	BPNT2	PTH1R	FKBP6	AGA	KIAA0586	RAD51C	FLNB	RUNX2	PCNT	RETREG1	PTCH1	CSPP1	KIF7	FANCF	MAD2L2	CHD7	PRKG2	FANCA	MMP14	INPP5K	ATR	GATAD2B	PDE4D	TNFRSF11B	IL2RA	CLIP2	FMR1	BRIP1	EXT2	RMRP	COL9A1	PTEN	GPC6	RFWD3	ROR2	B3GALT6	PTHLH	SRY	PDE6D	GNAS-AS1	PHYH	SVBP	SOX9	RAD21	TBX5	ASAH1	CDKL5	LETM1	EXOSC2	CPLX1	BMP6	MAF	FZD2	EZH2	DHX30	PRG4	COL11A2	PTDSS1	NRAS	SHOX	SLC25A24	CDC45	HDAC4	MEIS2	GSC	COL3A1	ATL3	COLEC10	NSD2	SALL1	ATP7A	CWC27	RNF13	NOG	SAMD9	FKBP10	BRCA1	COL9A3	PACS1	CSGALNACT1	PDE3A	TNNT3	DONSON	WNT5A	RBPJ	ARHGAP31	SCARF2	P3H1	REV3L	GPC3	CHST3	FANCI	FBLN1	TBX15	LRP5	KIF22	B3GLCT	PRMT7	PIGT	PLXND1	VPS13B	VAC14	POR	BAZ1B	BPTF	AFF4	ELN	ERCC1	SF3B4	COMP	DVL3	AKT1	LZTR1	XRCC2	TPM2	RSPO2	IHH	EIF4H	SIL1	XYLT1	ERCC4	MAP3K7	NDN	NXN	GJA8	ZIC3	EXT1	SNRPN	RLIM	CLCN7	SMARCA2	IFITM5	SRCAP	GUSB	MSX2	FGF23	MASP1	IFT80	NONO	TRIP11	PUF60	MATN3	SNRPB	CILK1	POGZ	COL5A1	SOS1	TRIO	CCNQ	PIK3CD	ACVR1	DACT1	ESCO2	CD247	VPS35L	BRD4	SMAD6	NEK1	CLCN3	WNT7A	AFF3	FGFR1	PEX7	COL9A2	NSD1	EXOC6B	FANCD2	MEG3	IFT52	CBL	BCOR	COL27A1	CTBP1	AMMECR1	RRAS2	METTL27	DLL4	TCTN3	STX16	HDAC8	ARID1B	INPPL1	TGFB1	FANCE	FGFRL1	TONSL	SUMF1	SMOC1	ZNF141	PEX5	SLC39A13	GTF2IRD1	G6PC3	MAGEL2	FGF16	MRAS	TRPS1	POC1A	FANCL	MMP9	JAG1	OTUD6B	MYL11	MAP2K2	RAB23	BCL7B	IFT81	BGN	OFD1	MACROH2A1	NCF1	HOXA13	MYSM1	ANKRD55	SUZ12	SLX4	LMX1B	GLB1	ALX4	EED	RFC2	NHS	TBL2	IL2RB	NEPRO	GTF2I	IFIH1	KCNH1	SUFU	STAT4	TMEM251	TFE3	COL1A1	PRKD1	SIAH1	KIF1A	BICRA	PQBP1	HHAT	ADAMTSL2	STX1A	HOXA11	LTBP3	B2M	DNAJC30	PTCH2	NSUN2	GATA4	SETBP1	COL5A2	GNPAT	NIPBL	CUL7	RIPK4	FIG4	SNIP1	BMPR1A	HPGD	MYH3	ZIC1	PCDHGC4	RPS19	TNFRSF11A	EIF4A3	WDR19	BRAF	PTPN22	COG4	DNMT3A	SETD5	SUCLG1	RBM8A	SOS2	DLK1	AGPS	H3-3A	MAN2C1	RAB33B	SMC3	SPRED2	DNM1L	PDGFRB	DCHS1	BUD23	NFIX	GJB6	RASA2	PIEZO2	RAF1	TNNI2	NOTCH2	BANF1	RAB3GAP2	PYCR2	WNK1	GJA5	MMP13	FANCM	PITX1	KL	FERMT1	INTU	TTC26	GTF2IRD2	LIMK1	TMEM216	RTL1	NPR2	FAT4	TMEM270	WLS	COL11A1	SCN9A	GALNS	B3GAT3	MAP2K1	FANCG	PIGS	FAM149B1	ANAPC1	APC	ADNP	PORCN	RAD51	CTSC
HP_ABNORMAL_MORPHOLOGY_OF_ULNA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_ULNA	VPS35L	BRD4	LMBR1	SMAD6	KAT6B	FANCB	VPS37D	MECOM	LRP4	GDF5	WNT7A	BHLHA9	FGFR2	IFT43	UBE2T	COL2A1	KRAS	CBL	BCOR	CTBP1	RRAS2	METTL27	SLC26A2	XYLT1	ELN	HDAC8	TGFB1	FGFRL1	TBX3	DYNC2H1	TBX5	PTPN11	GTF2IRD1	CHSY1	RECQL4	B4GALT7	CCDC8	COL10A1	MAGEL2	RRAS	MRAS	OBSL1	EXOC6B	FGFR3	SMC1A	RIT1	MMP9	LAMA5	JAG1	IHH	MAP2K2	PALB2	FLNA	BMPR1B	BCL7B	MLXIPL	BRCA2	DHODH	BGN	MACROH2A1	NCF1	MASP1	CANT1	TWIST1	RPL26	TBX22	COLEC11	FKBP6	AGA	RAD51C	FLNB	RFC2	FANCD2	PCNT	TBL2	MAD2L2	GTF2I	CHD7	PRKG2	FANCA	FANCI	DONSON	SHOX	CLIP2	BRIP1	BICRA	RFWD3	XRCC2	MAF	B3GALT6	STX1A	HOXA11	ROR2	B2M	DNAJC30	RAD21	LETM1	CPLX1	CUL7	RIPK4	EXT2	NRAS	COLEC10	TNFRSF11A	SALL4	SETBP1	BRAF	NSD2	NOG	RBM8A	SOS2	BRCA1	CSGALNACT1	POR	CHST3	SCARF2	REV3L	SMC3	SPRED2	FANCF	BUD23	PIGT	SF3B4	ESCO2	PLXND1	RASA2	PIEZO2	RAF1	BAZ1B	COMP	RAB3GAP2	LZTR1	MMP13	FANCM	PRKAR1A	PITX1	SLX4	PDE4D	EIF4H	NIPBL	GTF2IRD2	LIMK1	ERCC4	FANCL	NDN	EXT1	SNRPN	TMEM270	COL11A1	B3GAT3	FANCE	MAP2K1	FANCG	ANAPC1	APC	SOS1	RAD51	FANCC
HP_HYPOPITUITARISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPITUITARISM	GHSR	FGF8	ADAT3	WDR4	SMARCE1	PNPLA6	DLL1	CCDC141	FGF17	ZIC2	IARS2	SEMA3E	CTSK	POU1F1	TGIF1	STIL	ACP5	SNRPN	PLCH1	ZNRF3	TSHB	PRKAR1A	MKRN3	SUFU	TERT	RNPC3	BMP4	NODAL	SOX3	WASHC5	PROP1	SEMA3A	PTCH1	DCC	IGF2	BRCC3	TDGF1	SIX3	MAGEL2	STX16	RNF113A	POMC	TRHR	THOC2	AAAS	BTK	GLI3	AIP	KATNIP	DISP1	SMO	DBH	TP53	CEP57	FOXH1	GAS1	DCAF17	CDON	PDGFB	TMEM67	GLI2	LHX3	SHH	POLR3A	ALMS1	CDH23	KIAA0753	DUSP6	RRM2B	TP63	YY1	NFKB2	BAP1	LEPR	CTNNB1	LHX4	AKT1	SIN3A	GNAS	BRAF	DYRK1A	FLNB	FGFR1	KMT2A	TMCO1	NF2	RRAS2	FANCF	NDNF	CHD7	FARSA	TACR3	ANOS1	SPRY4	EIF2S3	FLRT3	MARS2	HERC2	SRD5A3	NDN	OCA2	ZNF148	NPAP1	MT-TL1	PROK2	TBX2	PITX2	SNORD115-1	POLE	PWRN1	EDA2R	PIK3CA	ADNP	GNB2	SMARCB1	HID1	STAG2	SNORD116-1	PWAR1	GMNN	SRP54	MAP2K2	SBDS	TBX19	HESX1	MADD	HS6ST1	GRB10	ALX3	FANCI	APOA5	MT-ATP8	POU3F4	TBCE	PDE4D	PREPL	VPS13B	RFWD3	SLC7A7	ZSWIM6	POLR3GL	GH1	FSHB	AFF4	HBB	TRAPPC11	RBM28	OTX2	MEN1	GPR101	TRAF7	FEZF1	KANSL1	STAT5B	B3GLCT	DNAJC21	IL17RD	CDKN2A	SMC1A	EFL1	SLC29A3	CDKN1C	IGSF1	SOX10	EDA	PCSK1	LEP	PROKR2	GRM7	GHRHR	FOXA2	NKX2-1	GMPPA	MPDU1	TBCK	WDR11	ARNT2	ESCO2
HP_AXONAL_DEGENERATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AXONAL_DEGENERATION	IGHMBP2	FLVCR1	SERPING1	REEP1	TTC19	CYP27A1	APTX	DNM2	NAGA	SH3TC2	SEPTIN9	LMNA	LRSAM1	CTDP1	ERCC6	SLC25A21	GJB1	SETX	ABCD1	TXN2	TRIM2	TFG	LAMA2	GDAP1
HP_IRREGULAR_DENTITION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRREGULAR_DENTITION	RIN2	DCHS1	SOX9	NFIX	FAT4	NMNAT1	TMEM231
HP_ANTEVERTED_EARS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTEVERTED_EARS	RPL10	CACNA1G	SYNGAP1	FGF3	TTI2	PBX1	KANSL1	BCOR	HMGB3	KAT6A
HP_HAPPY_DEMEANOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAPPY_DEMEANOR	UBE3A	PRKAR1B	TASP1	ZEB2	SATB2	GRIK2	TCF4	HDAC8	ADSL	WDR26	ATP10A	SNRPN	TBC1D23	DYRK1A	OCA2	RAB11B	ZSWIM6	SLC9A6	ASXL1
HP_ABNORMAL_CIRCULATING_RENIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_RENIN	CYP11B1	CYP11A1	CACNA1D	HSD11B2	NR3C2	SCNN1B	KCNJ10	CYP11B2	KCNJ5	INSR	SLC12A3	SCNN1G	CLCNKB	SCNN1A	BSND	KCNJ16	KCNJ1	AVPR2	SLC12A1	CYP17A1	CASR	SLC26A3	HSD3B2	POR	CLCN2	MAGED2	CLCNKA
HP_ABNORMAL_CIRCULATING_ALDOSTERONE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_ALDOSTERONE	CDKN2C	SCNN1B	CDKN2B	SCNN1G	CDKN1B	MEN1	SCNN1A	CDKN1A
HP_ABNORMAL_PROLACTIN_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PROLACTIN_LEVEL	RBM28	NF2	SMARCE1	LHX3	HESX1	GNAS	TRHR	IGSF1	POU1F1	PROP1	GLI3	OTX2	BAP1	SMO	DBH	TRAF7	SUFU	LHX4	PIK3CA	TERT	SMARCB1	GLI2	AKT1	FOXA2	SOX3	PDGFB
HP_ABNORMAL_BLOOD_FOLATE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_FOLATE_CONCENTRATION	FTCD	HLA-DQB1	SLC46A1	OTUD5	ZNF699	HLA-DQA1
HP_NEOPLASM_OF_THE_INNER_EAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_INNER_EAR	SPRED1	NF2	KARS1	HRAS	VHL	CCND1
HP_ABNORMAL_EUSTACHIAN_TUBE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EUSTACHIAN_TUBE_MORPHOLOGY	WDR26	TP63	IRF6	NECTIN1	MSX1
HP_ABNORMAL_VITAMIN_B12_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VITAMIN_B12_LEVEL	HLA-DQB1	MTRR	MTR	LMBRD1	RASGRP1	ABCD4	MMACHC	AMN	CUBN	PRDX1	PRKCD	FAS	GUCY2C	CASP10	SLC19A1	MMAB	MMAA	GRM7	MTHFD1	MMADHC	ABCD1	CBLIF	FASLG	RNF13	HLA-DQA1
HP_ABNORMAL_SWEAT_HOMEOSTASIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SWEAT_HOMEOSTASIS	GSTM3	CFTR	CA12	HFE	TGFB1	CLCA4	EDNRA	SCNN1A	SLC11A1	SCNN1B	SERPINA1	SLC26A9	GCLC	CEACAM3	CEACAM6	STX1A	FUCA1	SLC9A3	SLC6A14	KCNN4	MIF	DCTN4	FCGR2A	HMOX1
HP_ABNORMAL_NERVE_CONDUCTION_VELOCITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NERVE_CONDUCTION_VELOCITY	CHCHD10	MYH14	IGHMBP2	SOX10	FXN	SLC12A6	VCP	DHX16	DNAJC3	ARSA	MED25	MATR3	BSCL2	MPZ	HSPB1	NGLY1	GDAP1	GJC2	TPI1	SAMD9L	LYST	MORC2	NDRG1	PMP22	AARS1	FBLN5	NEFL	TYMP	LMNA	POLG	DNM2	ERCC8	EGR2	IDUA	PSAP	PNKP	PNPT1	MFN2	RRM2B	SPTLC1	PLEKHG5	TBC1D20	YARS1	SH3TC2	PRX	SACS	SORD	LIG3	FBN1	FBXO38	ATP7B	GALC	RAB7A	RAI1	MTRFR	REEP1	PLP1	PTRH2	MFF	UQCRC1	SBF2	ATXN10	SPTLC2	MTMR2	ATXN1	ARHGEF10	CCT5	DCAF8	PRPS1	FIG4	GFM2	WNK1	HK1	GJB1	SETX	HSD17B4	NOTCH2NLC	CYP27A1	FGD4	SBF1	SLC25A15	HYCC1	SIGMAR1	HPDL	NFASC	ATP11A	AIFM1	PEX6	RETREG1	ERCC3	FLVCR1	DEGS1	JPH1	NEU1	LITAF	PDK3	SCN9A	PLA2G6	NALCN	ABHD12	ERCC6	KIF1B	KIF1A	LRSAM1	CTDP1	GARS1	LAMA2	LTBP3	SUCLA2
HP_ABNORMAL_SERUM_IRON_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SERUM_IRON_CONCENTRATION	TRNT1	RACGAP1	HFE	STEAP3	BCS1L	COL7A1	HAMP	FOXP1	PIGA	SKIC2	PKLR	CP	KIF23	CARD9	HJV	BMP2	TFR2	SKIC3
HP_ABNORMAL_MOTOR_NERVE_CONDUCTION_VELOCITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MOTOR_NERVE_CONDUCTION_VELOCITY	FIG4	PMP22	FXN	MPZ	HK1	SLC12A6	DNAJC3	SETX	MED25	NOTCH2NLC	BSCL2	HSPB1	GDAP1	GJC2	NEFL	FGD4	MORC2	SH3TC2	AARS1	HYCC1	SIGMAR1	HPDL	TYMP	LMNA	POLG	EGR2	ATP11A	PNKP	MFN2	DEGS1	JPH1	RRM2B	PRX	SPTLC1	PLEKHG5	LITAF	TBC1D20	YARS1	SACS	SORD	LIG3	FBXO38	NALCN	CCT5	RAB7A	REEP1	PTRH2	UQCRC1	SBF2	KIF1B	SPTLC2	LRSAM1	MTMR2	CTDP1	ATXN1	NDRG1	GARS1	GJB1	DCAF8	PRPS1
HP_ABNORMAL_SENSORY_NERVE_CONDUCTION_VELOCITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SENSORY_NERVE_CONDUCTION_VELOCITY	CHCHD10	FLVCR1	RRM2B	PRX	SPTLC1	WNK1	SLC12A6	DNAJC3	YARS1	NOTCH2NLC	SCN9A	NGLY1	SACS	LIG3	FXN	PMP22	MTRFR	PTRH2	HPDL	TYMP	KIF1A	POLG	EGR2	MPZ	ATXN1	MFN2	GDAP1	RETREG1
HP_ABNORMAL_CIRCULATING_FERRITIN_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_FERRITIN_CONCENTRATION	PIK3CG	UNC13D	XIAP	SLC40A1	HMOX1	PUS1	BMP6	SLC30A10	GLRX5	HAMP	PKLR	CP	STXBP2	IFNG	PRF1	TTC26	SLC25A38	HJV	SLC19A1	NLRC4	FTH1	HFE	MCM10	HAVCR2	IFIH1	CPOX	SLC7A7	STEAP3	HBB	LYST	BCS1L	FOCAD	KCNN4	PIEZO1	FTL	SLC4A1	STX11	ITK	GFER	STAT2	BMP2	TFR2
HP_ABNORMAL_HEPATIC_IRON_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEPATIC_IRON_CONCENTRATION	STEAP3	HBB	FARS2	PIGA	CP	BMP6	BCS1L	GLRX5	FOCAD
HP_ABNORMAL_TRANSFERRIN_SATURATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TRANSFERRIN_SATURATION	SLC25A38	SLC40A1	HJV	STEAP3	BMP6	SLC30A10	HAMP	HFE	PKLR	BCS1L	TFR2
HP_DEGENERATION_OF_THE_STRIATUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEGENERATION_OF_THE_STRIATUM	RNASEH2C	TREX1	LSM11	RNU7-1	IFIH1	ATXN3	SLC2A3	HTT	SAMHD1	ADAR	RNASEH2A	RNASEH2B	PDE8B
HP_CORTICAL_MYOCLONUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORTICAL_MYOCLONUS	RAPGEF2	PGM3	CASR	GNA11	TNRC6A
HP_ACNE_INVERSA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACNE_INVERSA	PSENEN	MEFV	POFUT1	KDF1	PSEN1	GJB2	HYOU1	NCSTN	POGLUT1	GJB6	KRT5	IKBKB
HP_ELEVATED_URINARY_CARBOXYLIC_ACID	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_URINARY_CARBOXYLIC_ACID	ACADM	OXCT1	HFE	MMACHC	SLC18A2	LMBRD1	ABCD4	TCN2	HMBS	ACAD9	GCDH	SUGCT	HPD	CD320	PPOX	DHTKD1	MCEE	ETFDH	HGD	MVK	DNAJC19	MLYCD	CPT2	ETFA	ALAD	MMAB	CPOX	IDH1	SLC25A20	ACADS	NDUFB10	UROC1	ACADVL	L2HGDH	MCCC1	MMADHC	ALDH6A1	NFU1	SUCLG1	ETHE1	RET	NDUFS4	SLC22A5	ETFB	HCFC1	ACSF3	FOCAD	IDH2	PRDX1	SCO1	LETM1	TAT	COX16	SLC13A3	GATA1	ACAD8	SLC25A1	MMAA	SUCLA2	UROS	HADH	ALDH5A1	TRMU	HMGCL	CPT1A	SLC52A1	MMUT	D2HGDH	KIF1B	POLG
HP_ABNORMAL_SPACED_INCISORS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SPACED_INCISORS	ALX3	STAG1	CHSY1	RNF2	ATRX	DOCK7	DNMT3A	ABCC9	FREM1	HRAS	TUBGCP2	ANKRD11	GATAD2B
HP_GENERALIZED_OSTEOPOROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_OSTEOPOROSIS	TOM1	COL2A1	GCM2	CDC73	CCN6	CBS	SP7	MEN1	LMNA	COL1A1	CHST3	COL1A2	ZBTB20	STAT1	TENT5A	B3GAT3	MMP14	SATB2
HP_LOCALIZED_OSTEOPOROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOCALIZED_OSTEOPOROSIS	FSHR	BNC1	PSMC3IP	ZSWIM7	POU1F1	LHX4	HESX1	GLI2	BMP15	NUP107	POLR3H	FOXA2	MRPS22	SOX3	PROP1	OTX2	HTRA1	NR5A1	TRAPPC2	RUNX2	SPIDR
HP_ORTHOKERATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORTHOKERATOSIS	LORICRIN	CYP4F22	CLDN1	LIPN	FLG2	KDF1	COL14A1	DSG1	CSTA	CARD14	AAGAB	NSDHL	NIPAL4	ENPP1	CERS3	WNT10A
HP_ABNORMAL_PELVIS_BONE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PELVIS_BONE_MORPHOLOGY	TRPV4	BMPER	POR	DYM	RSPRY1	BGN	PCNT	IDUA	ERCC6	MBTPS2	FIG4	EXT2	TRIP11	COL11A2	LEMD3	B3GLCT	FGFR2	ERCC8	VAC14	PTH1R	EXT1	ATP7A
HP_ABNORMALITY_OF_HAIR_GROWTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_HAIR_GROWTH	TRPS1	KRT74	RNF113A	LIPH	GTF2E2	DSG4	RPL21	IFT122	KRT25	GJA1	GJB6	BRAF	LPAR6	ADAM17	TP63	EDAR	MAP2K1	KRT81	SHOC2	NR2F1	CDSN	EGFR	KRAS	EDARADD	CST6	MAP2K2	KRT86	KRT71	PPP1CB	KRT83
HP_ABNORMALITY_OF_THE_TONGUE_MUSCLE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_TONGUE_MUSCLE	LARGE1	GMPPB	POMT1	POMT2	FKRP
HP_MACROTHROMBOCYTOPENIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACROTHROMBOCYTOPENIA	GP1BA	TUBB1	ITGA2B	MYH9	GP9	DIAPH1	GP1BB	GATA1	SLC35A1	TUBA8	PRKACG	GFI1B
HP_OSTEOCHONDROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOCHONDROSIS	KRAS	DYRK1A	ORC1	ACTG1	ACAN	SMAD3	ACTB	LMX1B	COL9A2	FGFR1
HP_SCALING_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCALING_SKIN	LDHA	CDSN	TGM1	LRBA	EBP	SAMHD1	CHST8	ADAM17	KRT74	RNF168	CSTA	DSP	LMNA	PKP1	CARMIL2	GNB2	TGM5	PPP2R3C	KIF11	KIT	ELOVL4	KRT1	CYP4F22	KRT10	OSMR	IL2RA	GJB2	RASA1	NIPAL4	MPDU1	ZMPSTE24	MBTPS2	LORICRIN	CASP14	EGFR	CAST	CARD14	DCAF17	GJB6	IL7R	GJA1	SULT2B1
HP_INCREASED_HEAD_CIRCUMFERENCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_HEAD_CIRCUMFERENCE	NLRP3	LRP2	ARSB	ZIC2	ODC1	CACNA1E	PHF21A	APC2	TMCO1	MTMR14	CUL4B	HES7	SDHD	PLCH1	ZBTB20	GPC4	LBR	RIT1	IDS	PDSS1	TGIF1	ACAN	GNE	ETFA	PIGY	IDH1	NODAL	DYNC2I1	KRAS	SETD2	DPYD	CAMK2A	FKRP	PEX5	FZD2	WDR35	TCIRG1	SIX3	SEC23B	SHPK	TBC1D2B	PEX10	FAM111A	SEC24D	GLI3	TBC1D7	CHD1	RAB39B	MYH8	EIF2B3	L2HGDH	TET3	CCND2	EIF2B5	B4GALT7	TNFRSF11A	CAMTA1	MED12	POMK	DLL1	KCNJ1	SLC25A1	FGFR3	IGBP1	DAG1	GAS1	DICER1	LAMA5	SLC29A3	ADGRG1	STIL	SHH	POLR3A	POMT1	IGF2	ZDHHC9	LZTR1	USP9X	DYNC2H1	FOXH1	H3-3B	ASXL2	FGF8	DVL1	HSD17B4	GJA1	PIGN	PAK1	LRP4	ADGRL1	FIG4	GFAP	GALC	RIN2	NF1	PPP2R5D	TCF20	APC	C12orf57	KIF7	PIK3CA	HRAS	LARGE1	IFT43	PTCH1	KDM5C	EIF2B4	ANKH	ETFB	CHD8	FOXP1	COL4A1	RUNX2	SETD1A	GNB1	CDON	POU4F1	TNFRSF11B	SLC2A10	GNAI3	GLI2	POMGNT2	FMR1	MOCS1	CDH2	ZBTB42	NEU1	DHCR24	CC2D2A	PTEN	CEP120	MESP2	MLC1	ROR2	EXT2	PEX16	LMNA	H1-4	PTHLH	RXYLT1	MAN2B1	PPP1CB	CRPPA	SPRED1	IDUA	SOX9	PCGF2	CCNK	FGFR1	DLL3	TNFSF11	CSGALNACT1	SPTBN1	ALKBH8	SDHB	ERMARD	SLC16A2	EZH2	ERF	KMT2E	AP1S2	PTDSS1	ASPA	GNB2	BRAF	ABCC9	UPF3B	POLE	CWC27	CDCA7	EIF2B2	RAC1	INPP5E	NSD1	DNMT3A	GRB10	WNT5A	ZBTB24	GPC3	SOST	GABBR2	AKT3	CLCN7	PSAP	SRCAP	NFIA	B4GALT1	B3GLCT	HELLS	NFIB	MTOR	PIGT	SUFU	CCDC22	MECP2	HEXB	TUBA1A	POR	MTM1	CCDC28B	FKTN	DVL3	AKT1	COL2A1	SYN1	PEX6	NOTCH2	B4GAT1	PHF6	RPGRIP1L	STRADA	FLI1	ETFDH	SON	SNX10	CHRNA7	KCNC2	IHH	SHANK3	EDN1	XYLT1	HUWE1	PEX14	TMEM53	ROBO3	SMC1A	NXN	RNF125	PIGO	HOXD13	LFNG	FAM149B1	KCNH1	GNAQ	GUSB	DNM2	THRA	FBXW7	NONO	PEX1	TRIO	SLC35D1	NDUFAF3	AMER1	DISP1	NFIX	RAF1	SDHC	PLEC	VPS35L	MAN1B1	MGAT2	TUBB2B	ITCH	H19	CLCN3	GCDH	TRIP11	BGN	MPDZ	PEX3	NDUFV1	HMGA2	MYMK	KMT5B	POP1	CSF1R	TNRC6B	PLG	PIGV	ANK3	TDGF1	DPH1	INPPL1	NDUFS4	TONSL	SUMF1	GRIA3	GNS	RTL1	SHOC2	FGFR2	KDM1A	IFT80	POC1A	TMEM94	CHD4	UBE3A	ADK	EML1	MSX2	SNX14	ACADVL	MAP2K2	SIX2	BICD2	FH	ACADM	IFT74	MAB21L2	YME1L1	LAMB1	IFT81	MACROH2A1	PEX19	CLIC2	SPINT2	DOCK3	SUZ12	CRADD	FBXO11	POMT2	TUBB3	RERE	DLK1	L1CAM	EIF2B1	SMAD4	EED	UBE2A	PEX13	TBL1X	OPHN1	POMGNT1	BLTP1	SOS1	PIK3R2	DYNC2I2	ALG13	TAOK1	TFE3	DOCK6	CNTNAP2	PEX12	ALDH1A2	NKX3-2	PEX11B	BICRA	MOCS2	RNF135	HEPACAM	BIN1	TMEM67	SEC23A	MRAS	SLC26A2	KPTN	FIBP	MEG3	PTCH2	SH2B1	KLLN	CDC42BPB	PLCB4	LRP5	TBX6	SMARCB1	ANTXR2	ZNF469	BMPR1A	USF3	SLC39A14	MITF	ACER3	PPP2CA	RYR1	PLAG1	OFD1	STAG2	HDAC6	CAMK2G	AFF2	B3GALNT2	H3-3A	ARL6	WASHC5	NRAS	MAN2C1	CLCN4	FOCAD	TMEM216	KCNJ8	ZBTB7A	DNMT3B	HDAC4	AGGF1	ASH1L	ZMPSTE24	HERC1	IL6ST	PEX2	BRWD3	GAN	SMO	PGAP2	USP7	FBN1	PKDCC	CDKN1C	CHD3	SATB2	PPP1R12A	STT3A	OBSL1	DMPK	PITX1	MYF6	DPH2	KANSL1	BMP2	PEX26	PIGW	PIGA	ANKRD17	PGAP3	SIM1	SERPINH1	TBCK	TBX15	SMPD1	SLC2A1	RIPPLY2	OTUD5	GAD1	DEAF1	MAP2K1	DIS3L2	TRIM37	BBS1	ZSWIM6	FAR1	D2HGDH	PIGL
HP_DECREASED_HEAD_CIRCUMFERENCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_HEAD_CIRCUMFERENCE	KIF2A	VPS37D	CTCF	SPATA5	PLCH1	RPGRIP1	SLC2A1	KYNU	ZNF699	GABRA5	RNASEH2C	KCNJ6	NUP107	SMARCB1	RNU4ATAC	SPG11	NDUFB11	ADAR	ALDH18A1	ALG1	FZD4	FAR1	AP3D1	FKRP	PGAP1	CDT1	SIX3	SPOP	CYP26C1	RNF113A	GP1BB	ADH5	ADA2	HCFC1	MORC2	NOP10	TAPT1	PPT1	EIF2B5	MECP2	ANKRD11	DLL1	STAMBP	RAD51	LARP7	HNRNPR	FDXR	ARID1B	NSD1	NIN	ADGRG1	RNASEH2B	ANKLE2	RPS29	NRCAM	CDC6	STAG1	BRCA2	VPS4A	POMT1	H3-3B	ERCC5	LMNB1	EXOSC9	RPL35A	TRPS1	CHN1	NIPA1	RUSC2	YWHAG	UPB1	ERCC8	INTS8	GATA6	LINGO1	FKBP6	NDUFA1	FLII	MGME1	AIMP1	VPS33B	UBE3A	GINS1	NCAPG2	KATNB1	TUBGCP2	KMT2A	POMGNT1	KDM5C	MSMO1	CHKA	COG1	UBA5	DYM	BRPF1	CHD7	FGF8	RAI1	SMC1A	GLI2	GRIA4	ARX	CLP1	POMGNT2	MPC1	LARS1	TPRKB	ASNS	MOCS1	ZNF335	TUBB2B	EFL1	TRRAP	SCYL2	GABRA2	MAFB	EXT2	COPB2	ZBTB11	EXOSC3	FGFR1	PCGF2	TUBB	MYCN	IKBKG	TANGO2	SEPSECS	NGLY1	ATP7A	CUL4B	KDM6A	GABRD	STXBP1	ZIC2	PTDSS1	GJB3	GALNT2	RPL26	SCN3A	NBN	IGF1R	MEIS2	CHAMP1	TCTN3	DDB2	ALG11	KMT2D	FOXG1	FRMD4A	INPP5K	ERCC2	TCF4	PLEKHG2	FARSB	UBE3B	TSEN2	THOC2	EFTUD2	ACTB	SLC9A6	LRP5	INSR	TTC5	CDKL5	KIF15	CCDC32	PAH	TPK1	SRCAP	SP110	TNPO2	WDR37	TBX1	EMG1	CTU2	RFWD3	POLR1B	HCN1	NDUFS1	POLR3GL	ASXL1	LAS1L	PHF6	PGAP3	EIF4H	MTRR	CKAP2L	IGF1	TTI2	NSF	MCTP2	SIN3B	TRAPPC14	DYRK1A	FGFR3	PIGO	METTL5	DCPS	SOX11	UNC80	POLR3K	NDUFAF3	SDHD	AP4E1	ARV1	SPART	KIF5A	MASP1	AFF2	TRAPPC11	ACD	WASHC4	MED25	FZR1	SYNJ1	PTF1A	DISP1	TRAPPC9	TRIO	EIF2AK3	COX15	ESCO2	P4HTM	HBA1	KAT5	CPSF3	STIL	WDR4	MMACHC	SCN8A	POLRMT	ACSL4	SNRPN	SUFU	NECAP1	PSMC3IP	KCTD7	MYMK	TRAPPC10	MEG3	MRPS22	GPKOW	CTBP1	MTSS2	METTL27	ATP1A3	SYNGAP1	CDK5RAP2	SATB1	AP4B1	NDUFS4	CCDC47	WDR62	H4C3	STAT5B	POLR3B	SLC25A22	SLC18A2	BUB1B	SHMT2	LIPT2	NARS1	ERCC4	FGF12	GNAO1	CPLX1	CLCN4	DDX3X	LEMD2	CNP	OTUD6B	PIDD1	GRIN2B	GRIN2D	TBC1D20	SNAI2	CHMP1A	FAT4	YME1L1	CEP63	TRAIP	GON7	NCF1	MYH3	SBF1	RAB3GAP2	PPP1R15B	SLC6A9	TUBB3	RERE	ADD3	FUS	VPS37A	EIF2B1	TRAPPC6B	TMEM216	SMAD4	ARCN1	RAC1	AHCY	PIGH	COG6	KAT6B	TMCO1	PEX13	HACE1	DLD	BMP15	CHKB	TSEN54	HDAC8	PISD	OGT	FANCI	BRAT1	AP1S2	SMG8	ERCC6	NDUFB9	YRDC	TUBGCP6	SAMD9L	B9D1	PTCH1	TOE1	BPTF	UGP2	POMK	PHGDH	THOC6	MOCS2	MAPK1	PQBP1	DPYD	CENPE	NDUFB3	SKI	NDP	HNRNPK	STT3B	ADSL	ERCC3	GATA4	SCN1B	ATRX	KCNA2	NUP133	TBX6	PTRH2	NDUFS2	SGPL1	STT3A	RNASEH2A	NDUFAF5	VPS53	FAM20C	PEX11B	PRMT7	HIRA	CAPN15	PPP2CA	RPS19	SLC1A4	MT-ND3	TAF6	ADAT3	NUP85	BRCA1	CYB5A	CEP152	MED17	ARVCF	NSMCE2	ALG2	FANCF	CARS1	TRMT1	FARS2	ASPA	SMO	WWOX	CERT1	NEXMIF	UFC1	PEX2	KMT2B	KCNB1	DPM1	PARS2	OGDHL	SEMA5A	RAB3GAP1	PPP1R12A	GRIK2	TDGF1	VPS11	FANCM	ZBTB18	DHTKD1	RNF168	PAPPA2	UBE4B	MESD	PIGW	PIGA	SARS1	NODAL	HPDL	ANKRD17	RPS17	CASK	ATP6V0A2	ACADVL	ANK1	DPF2	OCLN	SAMHD1	DPAGT1	MFF	JAM3	RNF2	DDX59	EMC1	CYFIP2	FANCE	EDC3	AP4S1	CDK6	ADPRS	USP18	SLC25A19	ACADSB	SC5D	EXTL3	NDUFB10	FANCB	HSPG2	C2orf69	NSD2	SASS6	HES7	NCAPD3	MTHFS	DEAF1	DNM1	NHP2	UGDH	KCNT1	GPT2	CASZ1	CACNA2D1	IPO8	ORC1	ACADS	RPS24	IFT140	CACNA1B	PDHX	COL18A1	TRIM8	CC2D1A	RPS27	PLAG1	PSPH	PSAT1	UQCRC2	EIF2B3	TBL1XR1	TET3	SPIDR	CWF19L1	EXT1	GJA1	RREB1	PLK4	ALG3	ACTL6B	TAF1	NUBPL	EXOC7	POMT2	TYMS	GRIN1	SCN1A	ALG12	ARSL	ASPM	CDCA7	NDUFC2	FOXH1	SLC6A8	LARGE1	NDUFS7	NSUN2	CEP290	CLPP	TRAPPC12	PRDM16	C2CD3	RAD51C	TBCE	XPC	PCNT	KAT6A	CENPJ	FARSA	FANCA	ATR	DNA2	PRKDC	XRCC4	ZC4H2	HMGCL	MESP2	PLP1	ZNHIT3	MID1	CIT	FOXRED1	ZNF148	NSDHL	PDE2A	HCCS	PAX3	TAF13	SHH	SPTBN1	SLC38A3	SLC16A2	NACC1	PRUNE1	NDUFV1	RTTN	CDC45	WDR45B	GMNN	ARHGEF2	CLPB	OSGEP	DOHH	EXOC2	TMEM126B	VPS13D	DGCR8	MPLKIP	COG4	ELAC2	PEX5	SLC35C1	NIPA2	GMPPB	ADARB1	CLCN3	CDK13	AARS1	NDUFAF1	MMP23B	TRAK1	TGIF1	POLR1A	BLM	POR	CYB5R3	AFF4	ELN	ERCC1	FKTN	POLA1	EP300	PCNA	B4GAT1	RIC1	PHF8	HSPD1	ALDH3A2	CHRNA7	ALS2	NAA10	ALX4	NAPB	NFASC	HBA2	SIL1	EXOSC1	L1CAM	RBBP8	COX8A	CNNM2	LFNG	TLK2	MBD5	SMARCA2	NDUFS6	TMX2	BRF1	AUTS2	RRP7A	PLPBP	CELF2	PUF60	CNTNAP1	SIGMAR1	NDUFAF4	WDR73	TSEN34	RPS7	PNPO	COG8	RSPRY1	EIF5A	TP53RK	IARS1	GLYCTK	AFF3	MYMX	COG5	VRK1	HIVEP2	MCM7	TNRC6B	TMEM107	SPEN	RAD50	RAB18	SMG9	AP3B2	CNKSR2	ACO2	AGTPBP1	COX7B	ARFGEF2	THUMPD1	AGT	SUMF1	PHACTR1	SPR	NDE1	FREM1	PDGFB	PMM2	MBTPS2	CEP57	PTPN23	RPL15	RPL11	CDC42	TMEM70	MRPS28	EEF1A2	TECPR2	RARS2	BCL11A	VPS13B	GABBR2	GTPBP2	UBTF	LETM1	DHCR7	FBXO11	RAB11B	TBCD	LUZP1	NDUFA6	ARHGAP31	MCPH1	NAT8L	ARPC4	RFT1	NADK2	RPS10	PYCR2	EFEMP2	GALK1	NFIX	GTF2I	GABRB2	KCNH1	AHSG	DOLK	MCM4	SLC25A12	PLAA	PRKD1	ZMYM2	NKX3-2	CCDC8	NTRK2	AGTR1	HHAT	XYLT1	CSNK2A1	CTSD	ZNF292	CDC42BPB	GNPAT	BCR	HTRA2	ATP6V1E1	IER3IP1	POLE	BNC1	KARS1	LIG4	TELO2	CDON	HNMT	SLC13A5	CACNA1G	NUP37	TSEN15	LMX1B	DALRD3	SUCLG1	XPA	NEK9	MTFMT	AP4M1	ITGB6	TARS1	SOX2	PDHA1	BCAP31	DNM1L	HDAC4	ASH1L	PSMB1	NDUFV2	USP7	PIEZO2	GABRG2	SLC5A6	HNRNPH2	MBOAT7	ARID2	TUFM	GRIP1	PEX14	PALB2	TANC2	DPH2	B3GLCT	PLXNA1	COG7	GTF2IRD2	LIMK1	IFIH1	DHX37	CRIPT	RTL1	TMEM270	FANCG	KANSL1	MRPS34	WLS	SLC35A1	AIMP2	SIN3A	DCX	GAS1	SLC6A1	GBA1	WT1	PIGL	TBC1D24	ACBD5	AMPD2	SEMA3E	DPP6	YARS1	GLS	GRIA2	SERAC1	B9D2	ZIC1	PIGY	BMP4	ASXL3	EIF3F	SLC25A20	FRAS1	SALL4	EHMT1	CAMK2A	NUS1	SPATA5L1	ATP1A2	VPS51	MFSD2A	PCDH12	AAAS	RPS28	PUS3	ZEB2	SLC25A1	FANCC	TINF2	DAG1	VPS33A	KCNJ2	AP2M1	CREBBP	CFC1	CACNA1A	RPS6KA3	TRIP13	GLE1	EOMES	VIPAS39	GALC	KIF11	STAG2	PIGQ	SCUBE3	MACF1	MKS1	CLTC	MTHFR	UFSP2	RNU7-1	EIF2B4	ARID1A	ZNF526	MAD2L2	TMTC3	EBF3	ENTPD1	COL4A1	KIF1A	MCOLN1	EIF2S3	BCAS3	SLC30A9	MINPP1	BRIP1	MAP1B	DHCR24	SIK1	SATB2	FTO	DPM2	RAD21	DLAT	NUP214	DLL3	SRPX2	DHX30	LAGE3	CHD2	RIPK4	GRM7	COG2	CTNNB1	SALL1	RNF13	DHFR	GOT2	IBA57	RB1	ADAMTSL1	LSM11	MAPK8IP3	TUBA1A	TRMT10A	VAC14	DSTYK	BAZ1B	RPS15A	PARN	MRPS25	SLC35A2	GTF2E2	DGUOK	SEC24C	RPS23	KNL1	XPR1	YIF1B	MICU1	SDHAF1	PEX16	ATP6V1A	KIF14	SPTAN1	MAPRE2	PUS1	GJA8	PRR12	LDHD	YIPF5	PRDX1	FBXW7	LIAS	ACE	HNRNPH1	FLCN	HNRNPU	SLC1A2	BUB1	ARNT2	NDUFA8	RPGRIP1L	TMEM260	BRD4	MGAT2	ITPA	CENPT	QDPR	CARS2	LSS	QRICH1	RNPC3	KIFBP	NANS	TCTN2	RBM28	CRPPA	AUH	FGF13	SSR4	GATA1	ATPAF2	ADAM22	ORC6	UFM1	CDK5	FGFRL1	DHDDS	G6PC3	CPT2	PAK3	PI4KA	FBLN5	HMGB3	OSTM1	ABCA2	SMPD4	DGCR6	GTF2H5	TP53	AP3B1	EXOSC8	EXOSC5	FH	CEP135	PEX6	BCL7B	PMPCB	MAPKAPK5	PEX19	TOP3A	PEX7	CRKL	RPL10	BCOR	EN1	PPP3CA	PEX1	GFM1	MED27	POLR3H	DKC1	PIGG	NDUFS8	DONSON	ALG13	CCDC88A	DOCK6	DDX11	SMARCC2	BICRA	RPL18	SLC12A5	XRCC2	NDUFA11	RPL31	HEATR3	PNKP	TAF2	DGCR2	RARS1	MYSM1	ST3GAL5	NDUFAF8	JAM2	PDCD6IP	DTYMK	HSD17B10	NBEA	KIT	OFD1	TRAPPC2L	PRKCZ	SDHB	PEX12	COQ9	DNMT3A	ALDH6A1	TMEM222	SOX4	MYO18B	B3GALNT2	NSRP1	DLK1	H3-3A	PPP2R1A	STAC3	ALG9	AGGF1	BUD23	TUBG1	PGAP2	SELENOI	SNAP29	SLC25A24	NUP188	RELN	MT-ND2	KCNN2	LONP1	RPS20	NDUFS3	GJA5	MICOS13	SIX6	LMBRD2	KIF1C	SDHA	PYCR1	LEMD3	DYNC1I2	ACTG2	ATP11A	EXOC8	MDH1	NTNG2	NEUROD2	CEP85L	ORC4	JMJD1C	RIPPLY2	IQSEC2	RNASET2	PEX26	ZSWIM6	KCNA4	CC2D2A	TERT	PORCN	SNRPB	TBCK	WBP11	CNOT1	PCLO	CHRNG	AASS	FBXL4	HAAO	UBE2T	PHC1	CDK19	SMARCE1	MT-ND1	NARS2	FBXL3	DIAPH1	MVK	FLVCR2	ELOVL4	ZNF592	LGI3	TUBB4A	SMARCA4	TRAPPC4	TBC1D23	NALCN	SCN2A	SUOX	RTEL1	CD96	TCTN1	FREM2	YARS2	GFM2	SLC35A3	MLXIPL	KMT2C	NCAPH	TUBGCP4	FIG4	SPTLC1	QARS1	PIGF	DMXL2	DEGS1	PDPN	GRIN2A	ATP6V1B2	CLIP2	COASY	POLG	ACTG1	SMARCD1	TMEM165	VPS50	RXYLT1	SVBP	PRKAR1B	BUB3	NDUFAF2	FBN1	NF1	BDNF	LTC4S	SLC20A2	EPRS1	REN	POGZ	PTEN	EIF2B2	PACS1	TASP1	TMEM67	SLC12A6	INPP5E	CDK10	TSPAN12	CENPF	FSHR	PSAP	PTS	COMT	RSRC1	FUT8	SLC30A10	ATM	ATRIP	NTNG1	DCHS1	WDR26	OCA2	HUWE1	DISC1	SET	LAMB2	RLIM	PIGP	PDGFRB	ZPR1	NHEJ1	TBX4	PET100	VARS1	SHANK3	TXN2	SUCLA2	LMNB2	ITGA3	PAFAH1B1	TXNDC15	CTNND2	MYORG	RPS26	FANCD2	ZNF408	RHOBTB2	ERCC6L2	PIGV	MIPEP	VARS2	TDP2	IQSEC1	MIR17HG	PSMC1	SLC25A46	TAT	EFNB1	PEX3	MPDU1	GTF2IRD1	POC1A	RBPJ	IFT74	NAGS	RPL27	TRIP12	SLX4	SLC39A14	PURA	UBR1	SZT2	TREX1	TMEM237	KIF5C	NSUN3	RFC2	DDX6	TBL2	GEMIN4	PPFIBP1	PUS7	CDH11	ATP10A	KCNMA1	AGA	KCNAB2	ISCA1	TFAP2A	NELFA	EPG5	PRORP	STX1A	RPL5	KCNA1	CSPP1	DNAJC30	ESS2	WDFY3	EIF2AK2	HPD	NIPBL	DYNC1H1	DENND5A	PCDHGC4	H4C5	HMGA2	NR5A1	TIMMDC1	GJB4	TSR2	TOR1A	SMC3	NCAPD2	PEX10	PRIM1	DNAJC21	ATP5F1A	SF3B4	TMEM231	LINS1	ZSWIM7	CAMK2B	GORAB	POLR2A	CTNNA2	NKX2-1	KDSR	FANCL	COPB1	TRIT1	RPL35	MAB21L1	OTUD5	PAX6	PIGS	CUL3	GMPPA	ACSF3	ADNP	UFD1
HP_MILD_MICROCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MILD_MICROCEPHALY	UBE3A	SDHA	THOC6	OCA2	SDHD	ASPA	LARP7	PLAG1	CWF19L1	GATA6	CEP85L	SDHB	RIC1	SDHAF1	COG6	GRIN2B	TRAPPC9
HP_ENCEPHALOMALACIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENCEPHALOMALACIA	ENG	ALX4	MICU1	TGFBR3	ZNFX1	ANGPTL6	ABCC6	ENPP1	MSX2	COL3A1	DNMT3A	THSD1
HP_NON_MEDULLARY_THYROID_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NON_MEDULLARY_THYROID_CARCINOMA	NRAS	NKX2-1	MINPP1	HRAS	SRGAP1	HABP2
HP_ABNORMAL_CONSUMPTION_BEHAVIOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CONSUMPTION_BEHAVIOR	UBE3A	NLRP3	CYP11B1	MN1	NPHP4	SNRPN	MC4R	HTT	MKRN3	PDSS1	ZNF699	CASZ1	CLDN16	TMEM67	SLC41A1	SMARCB1	AVPR2	COL13A1	SPEN	SLC5A2	MBD5	PSEN1	DZIP1L	SKI	CTNS	MAGEL2	POMC	HSPG2	SETD2	AQP2	SMARCA4	KCNJ5	ADCY3	BSND	MEN1	UCP2	PTPN22	KCNJ1	IRF4	LARP7	SLC5A7	HNF1A	ARID1B	PROKR2	SLC3A1	HNF1B	IFT74	HSD11B2	VAMP1	ABCC8	CLDN10	MAPT	LEPR	CTNNB1	PRDM16	LUZP1	GNAS	BRAF	ARNT2	MAN1B1	YY1	SOX3	ARID1A	SLC25A13	BBS9	PDPN	CHD8	CDC73	ATP10A	AVP	KCNAB2	ITPR3	HERC2	SMARCC2	SH2B1	NPHP1	LEP	MYO9A	NDN	SMARCD1	OCA2	NPAP1	SYNGAP1	ALMS1	KCNJ11	SNORD115-1	KCNJ10	RERE	DCDC2	SLC12A3	GABRD	PWRN1	SLC18A3	DPYD	IL6	BSCL2	MEIS2	SNORD116-1	GRN	PWAR1	PRKCZ	ELP2	SOX4	CYP11B2	HESX1	PACS1	CLCNKB	SOX2	SLC25A1	INSR	GRB10	CHAT	CISD2	ASH1L	MYT1L	SNAP25	CDK13	MMP23B	NTRK2	NEXMIF	SLC7A7	SIM1	ARID2	SATB2	CACNA1D	NPHP3	WFS1	AGPAT2	OTX2	GPR101	PCDH19	AGRN	UBE4B	PREPL	NKX2-1	CACNA1A	SLC2A3	DHPS	LZTFL1	LRIG2	DPF2	SMARCE1	SOX11	EZH2	FGFR1	CASR	PCSK1	SYT2	SCN4A	ACAT1	ZSWIM6	PKHD1	ADNP	PLA2G6	HPSE2
HP_ABNORMAL_SKIN_MORPHOLOGY_OF_THE_PALM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SKIN_MORPHOLOGY_OF_THE_PALM	KRT14	KRT1	EXTL3	TSEN2	TNNC1	IFT122	GDF5	KRT2	CTCF	ABCC9	SDHD	IFT43	NHP2	TGM1	RIT1	C1R	LTBP4	DES	FLNA	DSG1	ALOX12B	FHL2	BMP4	RNU4ATAC	TERT	FBXO28	KRAS	DPYD	EHMT1	FGFR2	PIGL	DSP	PEX5	MEGF8	TCF12	SEC23B	VPS51	COL7A1	ACTN2	TRIM8	ARL3	PEX10	AAAS	STS	TCF4	ATP6V0A2	ALOXE3	CD4	GJB6	SMARCA2	NOP10	TBL1XR1	ANKRD11	EXT1	PERP	B4GALT7	MED12	PARN	SLURP1	RBM10	SMC1A	PTPRF	ANKRD1	KRT5	TYMS	MUSK	DSE	TUBA1A	CREBBP	FERMT1	LZTR1	ASXL2	MTX2	LBR	FGF9	TRPS1	GLE1	PIEZO2	SCN5A	CSTA	GJA1	KRT16	YY1	NALCN	TMPO	NECTIN1	PTCH1	TSEN54	RIN2	VPS33B	APC	IGF1	ASXL3	KATNB1	MYPN	HRAS	CTC1	GJB2	CTSC	TRPM4	RTL1	KRT9	PEX12	TRIO	POFUT1	PIK3CA	CHD7	FOXP1	SLC39A13	NPM1	MCOLN1	ATR	AP1B1	CTSB	WAC	ATP2A2	GRIN1	FIG4	SRD5A3	ZC4H2	MAP1B	USB1	BAG3	GATAD1	TPM1	ROR2	PEX16	PTEN	CERS3	HCCS	ABCA12	RAD21	RHBDF2	LETM1	CPLX1	KDM4B	TMEM147	CSGALNACT1	SPTBN1	NGLY1	KRT17	SDHB	COL17A1	DHX30	JUP	NAA20	STXBP1	POGLUT1	FKTN	GJB3	GNB2	NBAS	TTN	UBR7	WRAP53	TNNI3	NAA10	SERPINB7	PRDM16	HNRNPK	ATP6V1B2	NSD2	SOX18	PNPLA6	SPRED2	MAP2K2	BAG5	PNPLA1	UBE3B	PACS1	TASP1	KCNK9	CDK10	TNNT2	TNNT3	SDR9C7	TGDS	LTBP1	CHST3	TCAP	AAGAB	CIB1	ADAMTSL1	TSEN34	CRYAB	SDHA	TOE1	B3GLCT	WDR37	VPS13B	VAC14	ASXL1	MBTPS2	SASH1	DOK7	EP300	RPS23	PEX6	TPM2	IFT57	AQP5	SPECC1L	PKP1	COX7B	MYH3	XYLT1	CKAP2L	PPCS	PEX14	MAP3K7	MCTP2	SET	GJB4	LORICRIN	NXN	GJA8	LAMA4	COG6	ENPP1	CSRP3	BRAF	ZNF462	PRR12	BRF1	AUTS2	PEX1	PSEN1	SMARCAD1	KANK2	RBM20	KCNN3	SMAD2	ITGB4	CDK19	GPR101	CILK1	PEPD	TBX4	KDSR	TRPV3	SDHC	PPP3CA	TERC	BRD4	CD28	ITCH	ACTC1	RPL10	GLYCTK	CAP2	POLRMT	CTLA4	AFF3	PEX3	MYOD1	RSPO1	KRT6C	FGD1	MEG3	SLCO2A1	CTBP1	TAF1A	TNFRSF1B	STAG1	DPH1	CLCN7	HDAC8	ARID1B	THOC2	HPGD	FGFRL1	AIP	TAT	SMOC1	FLG	H4C9	G6PC3	SHOC2	CEP57	SMPD4	TP63	TINF2	BHLHA9	CAST	FGFR3	RTEL1	PLOD1	GPR35	KLHL24	NDUFB11	KRT10	MYH6	NUP88	TWIST1	PTCH2	BCOR	RAB11B	PLN	DLX4	UBR1	CD96	DLK1	DMD	KAT6B	GATA1	PORCN	TRIM37	CYP4F22	MYBPC3	PSENEN	KRT83	SUFU	SERPINA12	CFTR	SLC25A12	CCBE1	DOCK6	PLAA	DDX11	ZMYM2	WNT10A	PEX11B	TFAP2A	CEP55	PEX2	TXNRD2	MRAS	TGM5	MYH7	KRT6B	POMP	ZNF292	SETBP1	CDC42BPB	NIPBL	RIPK4	ZNF469	USF3	NLRP1	BMPR1B	SGCD	PPP2CA	VPS33A	TELO2	PLEC	DSG2	KRT6A	TSEN15	DOLK	LMX1B	TAF6	ALDH6A1	KCNH1	NOG	ACVRL1	H3-3A	IVNS1ABP	DKC1	LAMB3	PUF60	PEX19	PDHA1	NIPAL4	LMNA	SMC3	HDAC4	NEXN	NUP107	ESCO2	SNAP29	NEXMIF	SLC25A24	NUP188	TNNI2	TAFAZZIN	MEF2C	LONP1	PKDCC	TRAPPC11	CDSN	PSEN2	COX14	MST1	GJA5	PEX13	LIFR	VCL	CARD14	DPH2	DSC2	PEX26	PLOD3	LAMA3	MSL3	COL14A1	PPP2R3C	LEMD3	SLC18A3	AKT1	NECTIN4	DPAGT1	SEMA4D	HAND2	MTOR	NSDHL	OTUD5	LDB3	MAP2K1	RAPSN	MED25	OFD1	PIGS	DIS3L2	CHST14	KLLN	RAF1	GMPPA	ADNP	SMS	LAMC2	RPS6KA3	SEPSECS
HP_ABNORMAL_CIRCULATING_INSULIN_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_INSULIN_CONCENTRATION	HNF4A	LRAT	NPAP1	CERKL	KCNJ11	IFT88	FSCN2	RP1	MAFA	ALMS1	GCK	RGR	SPATA7	SNORD115-1	IDH3A	TULP1	FAM161A	ABCC8	PRPF4	MC4R	SNRNP200	LMNA	CNGA1	GUCA1B	ZFP57	MKRN3	CNGB1	FOS	PWRN1	GLUD1	STAT6	ZMPSTE24	BSCL2	ARHGEF18	PRPF6	INSR	PRPF31	SNORD116-1	PWAR1	SCAPER	SEMA4A	TUB	APPL1	SLC7A14	PDE6A	RDH12	PLAGL1	PCARE	NEUROD1	POMC	IMPG2	PRCD	KLF11	CFAP418	EYS	FOCAD	NRL	ADCY3	INS	SECISBP2	MEN1	DBH	USH2A	BBS1	ROM1	UCP2	BBS2	REEP6	HADH	PRPF3	RBP3	PAX4	CA4	ARL2BP	SLC16A1	HYMAI	PMM2	HNF1A	PDE6G	ZNF513	DCAF17	RP1L1	RLBP1	ZNF408	SIM1	PDX1	CPE	KIAA1549	MPI	BEST1	BLK	SAG	IFT172	ARL3	ABCA4	AGPAT2	ESR1	IMPDH1	IMPG1	KLHL7	NEK2	RP2	PRPF8	PAPPA2	NAB2	MAGEL2	CLRN1	CEL	RP9	LEPR	PPARG	HGSNAT	RHO	OFD1	AGBL5	CRB1	CDKN1B	RNF125	YY1	IDH3B	AHI1	DHX38	PRPH2	KIZ	MERTK	TRMT10A	RPE65	PROM1	PLIN1	GALK1	AKT2	CRX	CDHR1	TOPORS	TTC8	PCSK1	PDE6B	DIS3L2	LEP	HERC2	SH2B1	IFT140	RPGR	CAVIN1	DMXL2	CAV1	MAK	DHDDS	ARL6	AHR	NR2E3	POMGNT1
HP_HYPOINSULINEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOINSULINEMIA	HNF4A	STAT6	KCNJ11	KLF11	BLK	ABCC8	HNF1A	PAX4	GCK	HYMAI	DMXL2	PDX1	INS	ZFP57	RNF125	APPL1	NAB2	PLAGL1	NEUROD1	CEL
HP_ELEVATED_HEMOGLOBIN_A1C	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_HEMOGLOBIN_A1C	HNF4A	KCNJ11	KLF11	BLK	MTX2	BLM	HNF1A	DNAJC3	GCK	CELA2A	NARS2	NSMCE2	YIPF5	INS	WRN	CEL	ABCC8	BSCL2	PAX4	TRMT5	PDX1	APPL1	NEUROD1
HP_REDUCED_NATURAL_KILLER_CELL_COUNT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_NATURAL_KILLER_CELL_COUNT	SYK	DCLRE1B	PIK3CG	B2M	ELF4	KNSTRN	RIPK1	DNMT3B	FCGR3A	NLRC4	PIK3CD	IKBKB	MCM10	IL2RG	AP3B1	PTPRC	IL6ST	TOM1	MCM4	CD70	PGM3	SASH3	DOCK8
HP_ABNORMAL_SIZE_OF_THE_DENTAL_ROOT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SIZE_OF_THE_DENTAL_ROOT	PAX9	WNT10A	SUMO1	TONSL	EDARADD	IFIH1	AXIN2	TGFA	IRF6	FGFR1	MSX1	WNT10B	SMOC2	BCOR	EDA	LRP6
HP_PULMONARY_HEMORRHAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_HEMORRHAGE	PML	SLC7A7	STAT5B	IRF2BP2	WIPF1	HMOX1	CTCF	SLC35A1	HLA-DPA1	PRTN3	FIP1L1	NPM1	STAT3	COPA	RARA	NABP1	ZBTB16	NUMA1	SP110	NLRC4	HLA-DPB1	PTPN22	BCOR	COL3A1	TBL1XR1	ZNFX1	EIF2AK4	ENG	PRKAR1A	CTLA4	WAS
HP_ABNORMAL_SIZE_OF_THE_CLITORIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SIZE_OF_THE_CLITORIS	SRY	CYP11A1	ESCO2	DMRT3	KAT6B	FOS	FIG4	NR5A1	FGFR2	PEX11B	CDC45	BSCL2	ZFPM2	ORC1	NDUFB11	INSR	NR0B1	MAP3K1	PEX12	CDT1	ATIC	VAMP7	DHX37	DHCR7	ORC6	UBE3B	RSPO1	ARID1B	POR	CEP152	COX7B	GATA4	HCCS	PEX3	PEX5	PEX10	WWOX	PEX1	FDXR	CD96	ORC4	PEX2	HSD3B2	VAC14	CDC6	TRAIP	PEX6	FRAS1	PPP1R12A	AGPAT2	CYP11B1	PEX19	PEX14	PEX16	PPARG	WT1	UBR1	AR	PEX13	ATR	GAD1	TOE1	MINPP1	PEX26	GMNN	CCNQ	SOX9	CAVIN1	CAV1	TALDO1
HP_IMPAIRED_GLUCOSE_TOLERANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_GLUCOSE_TOLERANCE	TP53	HNF4A	SLC40A1	KCNJ11	KLF11	BLK	MAFA	SLC5A1	HNF1A	GCK	INSR	IFT172	BRAF	NSMCE2	ATRX	LMNA	INS	USP8	NR3C1	PSMB8	CEL	WFS1	CDH23	SLC2A2	ABCC8	HNF1B	CAV1	PAX4	USP48	ESR1	AIP	LRP6	PDX1	APPL1	POLG2	NEUROD1
HP_ADENOCARCINOMA_OF_THE_INTESTINES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADENOCARCINOMA_OF_THE_INTESTINES	RPS29	RPS20	MLH1	SEMA4D	GPR35	RPS27	RPL27	TSR2	APC	MST1	RPL35A	MUTYH	ADA2	RPL35	POLE	POLD1	BMPR1A	RPS28	AAGAB	TCF4	MSH2	RPS26	RPL26	RPS19	NTHL1	RPL15	RPS17	SMAD4	RPS7	COL14A1	RPL18	RPS24	GREM1	RPL11	GATA1	RPL31	RPS10	RPS15A	RPL5
HP_ADENOCARCINOMA_OF_THE_SMALL_INTESTINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADENOCARCINOMA_OF_THE_SMALL_INTESTINE	MSH2	MLH1	NTHL1	APC	BMPR1A	SMAD4	COL14A1	GREM1	AAGAB
HP_ADENOCARCINOMA_OF_THE_COLON	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADENOCARCINOMA_OF_THE_COLON	RPS29	RPS20	MLH1	RPS27	RPL27	TSR2	RPL35A	MUTYH	ADA2	RPL35	POLE	POLD1	BMPR1A	RPS28	AAGAB	RPS26	RPL26	RPS19	RPL15	RPS17	RPS7	COL14A1	RPL18	RPS24	GREM1	RPL11	GATA1	RPL31	RPS10	RPS15A	RPL5
HP_NEOPLASM_OF_THE_PITUITARY_GLAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_PITUITARY_GLAND	PMS1	MEN1	DNAJB11	SMARCE1	TGFBR2	PMS2	ATRX	PRKACA	MLH1	GPR101	PKD2	USP8	TRAF7	PRKAR1A	SUFU	AIP	PIK3CA	BAP1	TERT	CDH23	CTNNB1	SMARCB1	TSC2	AKT1	PDE8B	BMPR1A	BRAF	SEMA4A	CDKN1B	GANAB	MLH3	YY1	APC	CDKN1A	TP53	PDE11A	NF2	MSH2	ARMC5	BICC1	FAN1	SMO	NR3C1	MSH6	IFT140	IFNG	TSC1	GNAS	PKD1	EPCAM	RPS20	KRAS	USP48	IDH1	CDKN2C	PDGFB	ALG9	CDKN2B	IDH2	ALG5
HP_NASOGASTRIC_TUBE_FEEDING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NASOGASTRIC_TUBE_FEEDING	FOXP3	MAGEL2	PTCD3	PSAT1	DPM2	EPM2A	PACS1	KCNK9	MYL1	AASS	CARS2	NHLRC1	MOGS	HECW2	ALG2	NONO	NACC1	WAC	SRCAP	RECQL4	ZNF699	BSND	ABCD1	COL4A6	ASPA	GNB2	COL4A5	ANAPC1	MFF	KNSTRN	PIK3CD	ACSF3	SLC35A2	PLP1	MPDU1	SIM1	GRIN1	ASXL3	VPS50	CLCNKB	CLCNKA
HP_ABNORMAL_CIRCULATING_FREE_FATTY_ACID_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_FREE_FATTY_ACID_CONCENTRATION	UCP2	KCNJ11	ACADVL	ABCC8	HADH	DOLK	HNF1A	GLYCTK
HP_DECREASED_SERUM_IRON	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SERUM_IRON	FOXP1	TRNT1	PIGA	SKIC2	CP	CARD9	COL7A1
HP_MALE_SEXUAL_DYSFUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALE_SEXUAL_DYSFUNCTION	PODXL	SMARCE1	CCDC141	PROK2	FGF17	BMP6	CHD7	SACS	FGF8	PIK3CA	TERT	HJV	SMARCB1	RTN2	SEMA3A	HFE	DCC	PRKN	FMR1	ABCD1	CDKN1B	AR	HTRA2	SPRY4	ATXN8OS	SLC40A1	COQ2	HESX1	CACNA1G	BAP1	AIP	HS6ST1	SMO	NSMF	IRF4	KISS1	HEXB	PINK1	PDGFB	VPS13C	SYNJ1	CDKN2B	HBB	BMP2	GNRH1	GALC	CDH23	GUCY1A1	MEN1	LMNB1	PIGA	UBAP1	NDP	DUSP6	TTR	TRAF7	SUFU	FEZF1	FGFR1	SNCA	IL17RD	AKT1	HAMP	WDR11	UCHL1	CDKN1A	KISS1R	NF2	TACR3	SOX10	TAC3	NDNF	PARK7	LRRK2	ANOS1	FLRT3	PROKR2	GNRHR	GPR101	DNAJC6	CDKN2C	TFR2
HP_OLIGOARTHRITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OLIGOARTHRITIS	PTPN2	IL2RA	CD247	IL2RB	HLA-B	STAT4	PTPN22	ANKRD55	TNFRSF1A	TOM1	IL36RN	MEFV
HP_BLIND_VAGINA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLIND_VAGINA	AR	CYP17A1	MAMLD1	MTM1	WT1
HP_DARK_URINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DARK_URINE	TTC26	PYGM	CPOX	HMBS	MT-CO3	STAT4	IRAK1	AKR1D1	LPIN1	SPP1	MT-CO1	ATP11C
HP_HYPOPLASIA_OF_THE_OLFACTORY_BULB	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_OLFACTORY_BULB	SMCHD1	ZSWIM6	SEMA3A	TUBB3	GSX2	POU3F3
HP_ABNORMAL_MORPHOLOGY_OF_THE_OLFACTORY_BULB	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_THE_OLFACTORY_BULB	PROKR2	DISP1	PROK2	SHH	FOXH1	TUBB2B	FGFR1	ZIC2	FGF8	TDGF1	STIL	PLCH1	DLL1	GAS1	PTCH1	TGIF1	POU3F3	TUBB3	NODAL	ERBB3	GLI2	CDON	STAG2	SMC1A	SIX3	GSX2	SEMA3A	CILK1	SMCHD1	TUBA1A	ZSWIM6
HP_ABNORMAL_SUBSTANTIA_NIGRA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SUBSTANTIA_NIGRA_MORPHOLOGY	ATXN8OS	WDR45	MAPT	NR4A2	LRRK2	ATXN2	ATXN3	PRKN	GTPBP2	TBP	ADH1C	SNCA	SLC44A1	GCH1	GLUD2	IMPDH2	SPG11	FBXO7	VPS41	FTL	MT-TT	C19orf12	SNCAIP	GBA1	TBCE
HP_ABNORMALITY_OF_PERIPHERAL_NERVES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_PERIPHERAL_NERVES	CHCHD10	TFG	FXN	VCP	ARSA	MED25	MATR3	HSPB1	GJC2	TPI1	SAMD9L	DHH	SPTLC2	PMP22	FBLN5	NEFL	CPLANE1	POLG	DNM2	EGR2	IDUA	ERCC6	SETX	SLC12A6	MORC2	PMP2	EXT1	PSAP	PNPT1	SPTLC1	PLEKHG5	SH3TC2	SUMF1	PRX	SORD	FBN1	FBXO38	BSCL2	ATP7B	GALC	ERCC4	RAB7A	REEP1	DKK1	ERCC8	MFF	UQCRC1	NDRG1	MFN2	SYT2	VPS13A	PRPS1	GFM2	CTDP1	SBF2	MPZ	HK1	HSD17B4	NOTCH2NLC	SPG21	FGD4	SBF1	GDAP1	ATXN1	B2M	TRPV4	PEX6	RETREG1	FLVCR1	DEGS1	JPH1	NEU1	LITAF	PDK3	DNAJB6	PLA2G6	NALCN	CEP126	ABHD12	KIF1A	EXT2	LRSAM1	GJB1	KARS1	LAMA2	LMNA	LTBP3	MYH14	IGHMBP2	SOX10	ATL3	DHX16	DNAJC3	NGLY1	MPV17	LYST	AARS1	TYMP	PNKP	RRM2B	ALS2	TBC1D20	YARS1	SACS	LIG3	RAI1	MTRFR	PLP1	PTRH2	ATXN10	MTMR2	HSPB8	ARHGEF10	CCT5	DCAF8	SNAP29	FIG4	WNK1	CYP27A1	CADM3	SLC25A15	NTRK1	HYCC1	SIGMAR1	PRNP	HPDL	NFASC	ATP11A	AIFM1	ERCC3	RFC1	EMILIN1	SCN9A	KIF1B	GARS1	ATL1	SUCLA2
HP_HYPOLIPIDEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOLIPIDEMIA	MTTP	APOC3	GALNT2	PNLIP	CCT5	NGLY1	ANGPTL3	CETP	ACOX2	PCYT1A	SAR1B
HP_CONGENITAL_MALFORMATION_OF_THE_LEFT_HEART	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_MALFORMATION_OF_THE_LEFT_HEART	GATA5	CPLANE1	CCDC22	CREBBP	POLR3A	CDK8	TBX5	MKKS	EP300	H3-3B	GJA1	NADSYN1	GATA4	TRAF7	TBX1	HAAO	FOXF1	FLI1	KYNU	B3GLCT	GNB2	STAG2	WASHC5	ARHGAP31	MCTP2	WT1	DTNA	GATA6	COQ4	NR2F2	MYRF	NKX2-5	SMAD6	ZIC3	TMEM218	ANKRD11	CIROP	SPOP	PAH	PKD1L1	NOTCH1	CFAP53
HP_NARROW_PALPEBRAL_FISSURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_PALPEBRAL_FISSURE	KPTN	DDR2	PCGF2	GABRA3	MYCN	ESS2	DGCR2	KDM4B	TBL1XR1	CDC42BPB	MAPKAPK5	GATAD2B	TRIP12	PCNT	B9D2	RBMX	PGM3	ADNP	TBX1	KCTD1	HDAC4	TENM3	RECQL4	CACNA1G	SMAD4	DLK1	WDR35	EFEMP2	HSPG2	SPOP	DDX6	EDEM3	RTL1	SMARCA2	POLR3A	LARP7	DNMT3A	MED13	DGCR8	PYCR1	RPL10	PDE4D	DOCK6	TRMT1	MEG3	SRCAP	ZMYM2	DGCR6	INTS1	SLC6A17	BICRA	CEP55	SPEN	MAPK8IP3	GPC6	ARID2	KMT2A	PHF6
HP_ABNORMALITY_OF_THE_THORACIC_CAVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_THORACIC_CAVITY	GNPTAB	PIK3CG	BCL2	SMARCE1	RHBDF2	BTNL2	RASGRP1	WT1	TRAF7	NUTM1	SUFU	NAB2	CYBC1	EFEMP2	PIK3CA	BAP1	GLMN	STAT6	TERT	DNAJC21	SMARCB1	PRKCD	AKT1	MALT1	LTBP1	FBLN5	EFL1	SRP54	EIF2AK4	FOXP1	SBDS	PORCN	NF2	BCL6	NCF1	BCL10	NCF2	SMO	HLA-DRB1	HLA-B	BRD4	CYBA	APOE	PTPN22	IRF4	BIRC3	P4HA2	CYBB	PDGFB	EWSR1	HLA-DPB1	NCF4	MAGT1
HP_MICROLISSENCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROLISSENCEPHALY	NDE1	CIT	KIF14	KATNB1	RELN	RNU4ATAC
HP_ABNORMALITY_OF_JAW_MUSCLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_JAW_MUSCLES	NECTIN1	CHRNE	ADGRG1	TP63	SRPX2	CHRNB1	GIPC1	CHRNA1	DOK7	NOTCH2NLC	CACNA1S	LPIN1	RYR1	SCN4A	LRP4	PI4KA	MSX1	ATXN1	CHRND	MT-CO3	AK9	RAPSN	IRF6	COL13A1	MT-CO1	AGRN	MUSK
HP_OSTEOLYSIS_INVOLVING_BONES_OF_THE_UPPER_LIMBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOLYSIS_INVOLVING_BONES_OF_THE_UPPER_LIMBS	DDR2	ASAH1	ZMPSTE24	WNK1	CTSK	MTX2	FLNA	SCN9A	IFIH1	MMP14	LMNA	MMP2	PDGFRB	MAFB	KIF1A	COL3A1	ATL3	RETREG1	HPGD	NOTCH2	CTSC	BANF1
HP_ABNORMAL_LACTATE_DEHYDROGENASE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LACTATE_DEHYDROGENASE_LEVEL	ACADM	PIK3CG	POMT1	OCRL	RHD	LDHA	HMOX1	CALR	SLC25A13	ACAD9	B4GAT1	STAT4	IRAK1	GAA	PIGA	RB1	LPIN1	NSUN2	LIPA	CPT2	MVK	POMT2	SIL1	MLIP	XK	SLC19A1	PLEC	HBB	GATA1	MT-CO3	CRPPA	RHAG	CFH	TP53	ZNFX1	CAV3	FKRP	SPP1	CBLIF	LARGE1	TCIRG1	KLF1	JAK2	B3GALNT2	PITRM1	RHCE	ALDOA	LYST	MYC	POMGNT1	FLI1	CD46	HLA-DRB1	CFI	CDAN1	KCNN4	TET2	COL4A1	HELLPAR	INPP5K	AKR1D1	CHEK2	RPS14	PNPLA2	POMK	PIEZO1	SLC4A1	POMGNT2	GATA2	DAG1	USB1	MPL	MTHFD1	SLC7A7	ABCG8	PLA2G6	VPS13A	HMGCS2	KIF23	KY	MT-CO1	RXYLT1	FKTN
HP_DECREASED_SERUM_COMPLEMENT_C4	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SERUM_COMPLEMENT_C4	DNASE1L3	STAT4	IRAK1	TLR7	C4A	SERPING1	PRKCD	SPP1	C4B
HP_ABNORMAL_DLCO	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DLCO	SFTPC	TERT	NDUFAF6	ABCC6	HLA-DRB1	MUC5B	RTEL1	XYLT2	TINF2	EIF2AK4	SFTPA2	SMPD1	PARN	COPA	XYLT1	CSF2RA	SFTPA1
HP_TIGER_TAIL_BANDING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TIGER_TAIL_BANDING	RNF113A	CARS1	ERCC3	GTF2E2	ERCC2	TARS1	GTF2H5	MARS1	MPLKIP
HP_ABNORMAL_LEVELS_OF_ALPHA_FETOPROTEIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LEVELS_OF_ALPHA_FETOPROTEIN	ITGB4	PLEC	NR1H4	DGUOK	FLI1	SETX	PIK3R5	SLC25A13	FOCAD	MET	BCL10	NGLY1	FAH	ATM	KIT	ZBTB20	AFP	CTNNB1	KIF12	RNF168	NPHS1	MAD2L2	PIGN	PRPS1	MKS1	STK11	OCRL	PEX6	FGFR3	PKD2
HP_ABNORMALITY_OF_THE_TESTIS_SIZE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_TESTIS_SIZE	NANOS1	CYP11A1	CCDC141	FGF17	FANCB	PNLDC1	RPL10	CUL4B	CUL7	SNRPN	AXL	UBE2T	KLHL10	TSHB	RBMX	FGF8	TAF4B	CHD7	FBN1	NR5A1	ZMYND15	KISS1R	RAB18	SOX3	MAP3K7	KCNJ6	ZFPM2	B4GAT1	GNRHR	CHRM3	SEMA3A	DCC	PHGDH	BRCC3	MAGEL2	USP9Y	RNF113A	TDRD9	RSPO1	FAM111A	THOC2	TCTN3	GLI3	GNAS	CYP17A1	SRY	PHF8	MECP2	LHCGR	WWOX	SLC39A4	MED12	ARX	RBMY1A1	KISS1	PMM2	HS6ST1	TYMS	DCAF17	GDF6	HSPG2	FANCM	CYP19A1	PALB2	ERCC3	TEX14	DHX37	ZDHHC9	FEZF1	BRCA2	TEX15	CYP11B1	CLIC2	DUSP6	NR0B1	LEPR	LHX4	GLI2	WT1	AGA	MBTPS2	RAD51C	WDR11	FANCD2	XPC	KDM5C	TACR3	TEX11	ANOS1	SATB2	MAD2L2	XRCC2	HDAC8	TAC3	MCM8	WRN	OGT	NDNF	FANCA	PQBP1	FANCI	GNRH1	DKC1	SPRY4	FLRT3	FMR1	SOX9	BRIP1	DDX3Y	CTDP1	DMXL2	LEP	RFWD3	NDN	CYB5A	OCA2	SEMA3E	IL1RAPL1	GBA2	PROK2	DMRT3	ALMS1	FSHB	DAZ3	DAZ2	DNAJC19	NF1	SLC29A3	H4C5	DDB2	SYCP3	PROP1	UPF3B	VAMP7	XPA	ERCC2	SAMD9	CDKN1C	BRCA1	TOGARAM1	HESX1	ARL6	TBC1D20	GATA4	SRA1	PTEN	NSMF	FANCF	SOHLH1	DAZ1	ATRX	HSD3B2	MAP3K1	CCDC28B	AKT1	CCDC34	ERCC4	OTX2	SYCE1	PHF6	C14orf39	SLX4	FGFR1	NAA10	TSPY1	IL17RD	FANCL	RPL10L	MEIOB	RLIM	SOX10	ZPR1	PDE11A	FANCE	FANCG	PRKAR1A	PROKR2	POLA1	POU1F1	BBS1	CFTR	FOXA2	SIM1	RAD51	ERCC5	DAZ4	FANCC
HP_HYPERKERATOTIC_PAPULE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERKERATOTIC_PAPULE	KRT14	GJB6	GJB2	POFUT1	LRP1	COL14A1	KRT5	PSENEN	COL7A1	POGLUT1	AAGAB
HP_SEROSITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEROSITIS	NOD2	FCGR2B	CALR	F5	MYO1E	EMP2	PRTN3	MAF	ANLN	GAPVD1	IL10	NUP85	PRG4	TREX1	MYH11	CCR1	MAGI2	JAK2	HLA-B	MVK	HBA1	INF2	APOL1	ANKFY1	CDC45	IFNGR1	CFB	MEFV	NUP205	TLR4	NUP107	HLA-DPB1	FCGR2A	NPHS1	DNASE1	HLA-DRB1	C4A	COL4A3	TBC1D8B	MIF	KLRC4	PTPN22	IL12A	RNU7-1	IL6	BRCA1	CD2AP	NUP93	STAT4	PAX2	IL23R	PLCE1	CTLA4	FOCAD	COQ8B	HLA-DPA1	LACC1	NPHS2	ACTN4	ARHGDIA	TNFRSF1A	NUP160	TRPC6	UBAC2	PTPRO	PMM2	ELANE	WT1	IRF4	NUP133	P4HA2	IL12A-AS1	HBA2	ARHGAP24	CRB2	FAS	ERAP1	NUP37	DAAM2
HP_THIN_EYEBROW	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIN_EYEBROW	SLC1A3	TRPS1	STAG1	RBL2	CDC45	CCNK	RNU4ATAC	AEBP1	AASS	KDM4B	ATP1A3	PEX1	DHX30	PEX6	ASXL3	BCL11B	ATP1A2	MBTPS2	KREMEN1	CACNA1A	EPS8L3	UBE3B	KAT6A
HP_SPARSE_EYEBROW	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPARSE_EYEBROW	MAN1B1	NSUN2	KAT5	ODC1	ITGA3	EBP	TMEM147	CDC42BPB	GJB2	AARS1	HECW2	KRT17	KDM6A	KMT2D	JUP	EDARADD	FIG4	EDAR	LMNA	MED12	TWIST2	NF1	KIFBP	PURA	CDH3	KMT5B	MEIS2	H4C5	HNRNPK	RNU12	PIGK	GNPTAB	LSS	KRT71	DSC3	SPRED2	MEGF8	DPH1	CWC27	MARS1	B4GALT7	TCF4	KRT74	RNF113A	UBE3B	H3-3A	APCDD1	TBX3	THUMPD1	WDR26	SMS	SOS2	GJB6	ALX1	LIG4	ATR	EDA	YY1	CHST3	HDAC4	ZMPSTE24	KAT6A	HERC1	KDM1A	SPOP	SMARCA2	TRPS1	RMRP	ANTXR1	LARP7	NFIB	RPL21	LZTR1	SPINK5	NUP188	VAC14	IRX5	TP63	MED12L	BANF1	MBTPS2	GJA1	CDC42	MTX2	SON	KRT25	MAPKAPK5	ATAD3A	LRP1	GTPBP2	CLDN1	LMBRD2	LIPH	SNRPE	NSD1	HRURF	DSP	DSG4	BRF1	MESD	PLXNA1	NECTIN1	STAG2	NAA10	TBCD	RIN2	DLX4	ALX4	PPP2R3C	CRIPT	ST14	COL11A1	WDR35	COG6	DPH5	WNT10A	LPAR6	WLS	POLR3A	SOS1	WNT10B	KANK2	RNU4ATAC	DOLK	GAD1	MED25	RECQL4	SIAH1	RPS28	USB1	PQBP1	HEPHL1	RAF1	PPP1CB
HP_DECREASED_PROPORTION_OF_CD3_POSITIVE_T_CELLS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_PROPORTION_OF_CD3_POSITIVE_T_CELLS	PNP	IL2RG	CD3E	RAG2	CD247	CD3D	IL7R	PGM3	DCLRE1C	RAG1
HP_ABNORMALITY_OF_BODY_MASS_INDEX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_BODY_MASS_INDEX	GSTM3	SLC25A13	CORIN	THOC2	CFTR	HFE	TGFB1	CLCA4	EDNRA	THRA	SLC16A2	HTT	SLC11A1	SERPINA1	SLC26A9	GCLC	CEACAM3	CEACAM6	STX1A	SLC2A3	SLC9A3	SLC6A14	KCNN4	MIF	DCTN4	FLT1	HMOX1	STOX1
HP_DECREASED_BODY_MASS_INDEX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_BODY_MASS_INDEX	GSTM3	GCLC	SLC25A13	CFTR	CEACAM3	HFE	TGFB1	CLCA4	CEACAM6	STX1A	SLC2A3	EDNRA	SLC9A3	SLC6A14	KCNN4	SLC16A2	HTT	MIF	DCTN4	SLC11A1	SERPINA1	HMOX1	SLC26A9
HP_LIMB_MYOCLONUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_MYOCLONUS	SCN2A	ASAH1	GABBR2	CDKL5	TOR1A	PRRT2	PRNP	MAPT	GABRB3	NTNG1	SMC1A	KCNQ2	CPLX1	GABRG2	CACNA1H	KCTD17	ABCD1	PRDX3	KCTD7	KCNQ3	SLC2A1	TBC1D24	DRD2	GABRA1	NOP56	SGCE	MECP2	JRK	SCN8A
HP_KNEE_JOINT_HYPERMOBILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KNEE_JOINT_HYPERMOBILITY	COMP	TNFRSF1A	FGFR3	LMX1B	MEFV
HP_DECREASED_LIBIDO	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_LIBIDO	CDKN2C	CDKN2B	CDKN1B	MEN1	CDH23	FSHB	CDKN1A	AIP
HP_PAIN_IN_HEAD_AND_NECK_REGION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAIN_IN_HEAD_AND_NECK_REGION	KRT6B	SCN9A	NF2	SMARCE1	GNA11	HMBS	BAP1	TGFBI	ZEB1	TONSL	RASA1	CHST6	SLC39A14	SMO	TCF4	COL17A1	GNAQ	TRAF7	SUFU	AGBL1	PIK3CA	NTRK1	TERT	DKK1	COL8A2	KRT17	SLC4A11	CTNS	SMARCB1	KRT16	AKT1	SF3B1	HTRA1	OVOL2	KRT6A	PDGFB	CYSLTR2	VSX1	GRHL2
HP_ABNORMAL_CERVICAL_SPINE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CERVICAL_SPINE_MORPHOLOGY	POLR3A	SOX9	FLNB	CHRNA1	EBP	GLE1	CHRNG	SLC26A2	ARSL	CHST14	POGZ	DHX37	GZF1	TRPV4	HTRA1	FUCA1	RIPPLY2	DSE	CHRND	HSPG2
HP_EARLY_ONSET_OF_SEXUAL_MATURATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EARLY_ONSET_OF_SEXUAL_MATURATION	FGF8	EIF5A	NR3C1	DLL1	VPS37D	TSC1	MKRN3	SNRPN	DEAF1	DLK1	FOS	RTL1	AIP	TNRC6B	CTBP1	KDM6A	METTL27	ELN	MAGEL2	H6PD	GLI3	FGFRL1	GNAS	TONSL	LMNA	SIX3	GTF2IRD1	SLC25A22	PAPSS2	LHCGR	HSD11B1	IDH1	SCN2A	GNAO1	DDX3X	HNRNPR	KISS1R	CDON	CREBBP	MAB21L2	BCL7B	MLXIPL	KMT2C	TRIM8	FOXH1	CNTNAP2	CYP11B1	NCF1	PTCH1	DHCR7	MEN1	IQSEC2	TDGF1	PPARG	PIGQ	TXNRD2	PIGF	ARX	FKBP6	DMXL2	DYRK1A	FLII	ASXL3	NR0B1	RFC2	PCNT	TBL2	SMAD4	ZNF526	NFIX	KRAS	GTF2I	PTH1R	MMP14	RAI1	TFE3	HERC2	CLIP2	NNT	CAVIN1	SPEN	CYP17A1	NDN	SIK1	STX1A	OCA2	GAS1	SHH	KCNA1	DNAJC30	NPAP1	MEG3	LETM1	ALMS1	CPLX1	TANGO2	SCN1B	SNORD115-1	PLAGL1	FREM1	KMT2D	SRCAP	PWRN1	HSD3B2	RAB23	GRM7	H4C5	INSR	SNORD116-1	SLC35A2	PWAR1	NSD2	MRAP	FLI1	GRB10	IFNG	HRAS	CDKL5	BUD23	STAR	STIL	MMP2	TGIF1	BAZ1B	MIA3	EP300	CASK	USP7	KANSL1	KMT2B	EIF4H	PIGT	GTF2IRD2	LIMK1	NODAL	MSL3	NRAS	SOX6	BSCL2	DISP1	NF1	GRIN1	TMEM270	HYMAI	PIGP	NEUROD2	MC2R	PDE11A	LRP5	STK11	PRKAR1A	GLI2	EHMT1	ZIC2	CAV1	IDH2	GRIA1	SIM1	AGPAT2	PNKP	TSC2
HP_NEOPLASM_OF_THE_PERIPHERAL_NERVOUS_SYSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_PERIPHERAL_NERVOUS_SYSTEM	VHL	SDHB	SPRED1	MBD4	SMARCE1	MAFA	SDHC	SDHD	SPTBN1	ASCL1	SLC25A11	NF1	APC	PRKAR1A	PIK3CA	TERT	TMEM127	KCNJ11	SMARCB1	MDH2	CCM2	DNMT3A	PDCD10	PHOX2B	MAX	RET	CDKN1B	SDHAF2	MLH1	BAP1	FH	NF2	EPAS1	SMO	LZTR1	MEN1	MYO1H	GCGR	KIF1B	IFNG	TSC1	KIT	PDGFB	BDNF	CDKN2B	EDN3	LRP1	DLST	TRAF7	SUFU	DAXX	TSC2	AKT1	SDHA	YY1	HRAS	CDKN1A	LMNA	KRIT1	CCND1	RNF43	ARMC5	PDE11A	GNAS	CDKN2C	KARS1	ATRX	GDNF
HP_SCHWANNOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCHWANNOMA	SPRED1	PRKAR1A	NF2	RNF43	SMARCB1	MBD4	PDE11A	KARS1	NF1	HRAS	LZTR1
HP_INTRACRANIAL_MENINGIOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRACRANIAL_MENINGIOMA	PIK3CA	BAP1	TERT	SMARCB1	NF2	SMARCE1	AKT1	PDGFB	SMO	TRAF7	SUFU
HP_NEOPLASM_OF_THE_EYE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_EYE	AKT1	NF1	MBD4	SDHB	TP53	ERCC4	BAP1	SDHD	NDP	VHL	GNAQ	USF3	PTEN	BRAF	TMEM127	TSC2	MDH2	DDB2	SF3B1	TSC1	RET	XPC	NF2	XPA	SEC23B	CCND1	ERCC2	GNA11	RB1	PIK3CA	FH	SDHC	IFNG	SLC25A11	MSH6	CHEK2	KRT1	KRT10	KIF1B	MAX	KLLN	STK11	SDHA	CYSLTR2	ERCC5	ERCC3	DLST	SDHAF2
HP_NEOPLASM_OF_THE_BREAST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_BREAST	ZFTA	PIK3CA	MBD4	PRLR	KLLN	TP53	FGFR2	SDHD	POLE	PALB2	SDHB	BRCA1	CASP8	FAS	APC	PTEN	BRCA2	USF3	XRCC3	PDE8B	CDKN2A	SEC23B	RAD51	KRAS	RAD51C	TERT	MGMT	RB1CC1	PRKAR1A	PDE11A	TWIST1	CDH1	RASGRP1	BARD1	MSH2	MSH6	GNAS	STK11	PALLD	TERF2IP	ATR	SLC22A18	AAGAB	MDM2	ESR1	AXIN2	MRE11	AKT1	BRIP1	NTHL1	SLC6A17	BLM	ACD	MITF	OPCML	MC1R	MLH1	CDKN2B	SMAD4	PRKACA	PRKCD	CHEK2	NQO2	MEFV	CASP10	RAD54L	CDK4	RAD50	COL14A1	CTNNB1	RELA	PPM1D	NF1	FASLG	RABL3	BAP1	RNF43	ERBB2	HMMR	WRN	RAD51D	POLD1	PRKN	ATM	PHB1	POT1	IDH1	LMNA	IDH2	SDHC	NBN
HP_EPIRETINAL_MEMBRANE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIRETINAL_MEMBRANE	TRNT1	NF2	ZNF408	NLRP3	TSPAN12	LRP5	C1QTNF5	FZD4	CTNNB1	APC	HLA-A	NDP
HP_ABNORMALITY_OF_MESENTERY_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_MESENTERY_MORPHOLOGY	CHST14	TMEM94	DSE	WFS1	CISD2
HP_NUCLEAR_CATARACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NUCLEAR_CATARACT	PRG4	WFS1	CRYBA1	FYCO1	GALK1	FTL	IMPG2	GJA5	CRYBB1	CFAP410	VIM	CHMP4B	MIP	BFSP1	GJA8	CRYGC	MVK	CRYBB2	HSF4	CRYBB3	NHS	GJA1
HP_CORTICAL_CATARACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORTICAL_CATARACT	OPA3	COL18A1	NF2	OCRL	KIAA1549	MIP	BFSP1	PANK4	PAK2
HP_CEREBRAL_PALSY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_PALSY	DNASE1L3	PHGDH	SOX10	WARS2	KIF2A	CACNA1E	SYNJ1	CPSF3	TANGO2	ARSA	SEPSECS	ADGRG1	GLYCTK	CIC	COG2	SPTBN1	SRPX2	SLC16A2	SMARCB1	MCOLN1	DYNC1H1	RNASEH2A	VPS53	ITGA2	DTYMK	RAB18	MCCC2	RNASEH2C	KARS1	CSF1R	AP4E1	RNU7-1	H4C5	PROC	WDR45B	SLCO2A1	FUCA1	PPIL1	MRPS22	RANBP2	COASY	HSD17B10	SPATA5L1	ELOVL4	GSX2	NSRP1	PDHX	GLB1	ATP6V0A1	EXOC2	PCDH12	GOT2	CYB5A	FBXW11	TBC1D20	ITGA2B	VLDLR	HPGD	KANK1	IBA57	SOX2	AIP	PSMC1	HMGCL	WDR81	COLGALT1	DCC	SPR	NDE1	AP4S1	MINPP1	MECP2	SHMT2	SYT1	PI4KA	CDC40	NALCN	NDUFAF5	OSTM1	NTN1	ALS2	BCL11B	TUBG1	PCBD1	UNC80	LSM11	IDUA	GABRA2	SCN3A	CNP	APC2	GRIN1	OTUD6B	CD109	SLC5A6	CYB5R3	RNASEH2B	GP1BB	CNPY3	NRCAM	ATP8A2	SLC6A3	COL4A2	SEC31A	CACNA1D	ITGB3	MTFMT	CNTNAP2	CAMK2B	SIX6	YIF1B	CLIC2	STXBP1	SLC19A3	TUBB2B	TBCE	NDUFAF4	KCNC2	SDHAF1	CA8	CTNNA2	TUBA1A	SPTAN1	PRNP	ADD3	IFIH1	AUH	CPLX1	KIF5C	RNF125	SAMHD1	ADAR	SLC1A4	RAD51	AP4M1	DPH5	DEGS1	SCN4A	PPFIBP1	SCN2A	TMX2	WDR73	TUBB3	DCX	PLA2G6	AUTS2	LIAS	GNB1	ARX	CLN8	PRDM13	GRIA4	DNAL4	GPR101	TREX1	ASNS	MOCS1	SHQ1	PRDM8	IDH1	MOCS2	PET100	PNP	RBM10	GP1BA	IDH2	NAXD	ANKLE2	ATP13A2
HP_RECURRENT_HAND_FLAPPING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_HAND_FLAPPING	UBE3A	FMR1	CUX2	PRKAR1B	PDZD8	SYNGAP1	GRIK2	CHD8	CIC	HECW2	NOVA2	NAA20	AFF2	TRAPPC9	OCA2	KMT5B	CDK19	ASXL3	HERC2	DHPS	NEXMIF	TRAPPC6B	HNRNPH2	MBD5
HP_CONSPICUOUSLY_HAPPY_DISPOSITION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONSPICUOUSLY_HAPPY_DISPOSITION	SIN3A	HNRNPH2	UNC80	SLC9A6	SATB2	KANSL1	NALCN
HP_OVERFRIENDLINESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVERFRIENDLINESS	TMEM270	DNAJC30	KANSL1	BCL7B	MLXIPL	VPS37D	GTF2I	NCF1	GTF2IRD1	DDX59	EIF4H	SMARCA2	BUD23	CLIP2	GTF2IRD2	POGZ	LIMK1	CHAMP1	FKBP6	MED13L	METTL27	RFC2	STX1A	BAZ1B	PIGH	ELN	TBL2
HP_ARTERIOVENOUS_MALFORMATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTERIOVENOUS_MALFORMATION	RASA1	AKT1	EOGT	GNA11	BRCA2	FANCB	NOTCH1	UBE2T	COL5A2	FANCM	COL3A1	SLX4	PTEN	GLMN	ERCC4	FANCL	CCBE1	CAV1	ADAMTS3	FAT4	GNAQ	RAD51C	CBS	DLL4	FANCD2	IL6	MNX1	BRCA1	ACVRL1	SMAD4	MAD2L2	RBPJ	FANCA	ENG	ARHGAP31	GDF2	FANCI	FANCE	KRAS	FANCF	AGGF1	DOCK6	FANCG	PIK3CA	COL1A1	EPHB4	BRIP1	COL5A1	RAD51	RFWD3	XRCC2	PALB2	FANCC	ARL6IP6	TEK	GUSB
HP_RECURRENT_PANCREATITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_PANCREATITIS	MT-ND4	CASR	MT-ND6	MT-ND5	MT-TH	CFTR	MT-TL1	CTRC	MT-CO2	PRSS1	MT-TS2	CDC73	CAV1	MT-CO3	PRSS2	MT-CO1	GCGR	CPA1	MT-TW	SPINK1	MT-TF	GPIHBP1	MT-TQ	MT-ND1
HP_NEOPLASM_OF_THE_THYROID_GLAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_THYROID_GLAND	PMS1	PIK3CA	SDHD	SDHB	FAS	SLC26A4	APC	FOXE1	ECE1	PRKAR1A	PTEN	USF3	EDNRB	NRAS	NKX2-1	MINPP1	KCNJ10	HABP2	SMARCB1	SEC23B	MSH3	EDN3	CDKN1B	SREBF1	SOX4	RET	RASGRP1	MSH2	SMARCA4	SEMA3D	FAN1	BMPR1A	DICER1	MDM2	MSH6	CDC73	EPCAM	RPS20	KRAS	FOXI1	ERBB2	CDKN2A	ARID1B	JAG1	ATP7A	CDKN2B	HRAS	TG	ARID2	MEN1	NRTN	TGFBR2	PMS2	GDNF	MLH1	PRKCD	ABCD1	CHEK2	CASP10	FLCN	ERBB3	SEMA4A	DPF2	AKT1	MLH3	FASLG	CDKN1A	SMARCE1	SOX11	ARID1A	WRN	PDE11A	TP53	SEMA3C	SMARCC2	KEAP1	KLLN	SRGAP1	CDKN2C	LMNA	GREM1	SMO	SMARCD1	SDHC
HP_TICS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TICS	PTCHD1	SLITRK1	KMT5B	CEP152	PANK2	POGZ	ZSWIM6	VPS13A	GATAD2B	MAPK1	GRIA1	SPTBN1	PUF60	HDC	EMC10	PDGFB	ZBTB20	BCR	CRKL	KCNN2	GNB1	ARID2
HP_MOTOR_TICS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOTOR_TICS	PTCHD1	HDC	PDGFB	SLITRK1	CEP152	PANK2	VPS13A	KCNN2	GNB1	GRIA1
HP_PHONIC_TICS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHONIC_TICS	HDC	SLITRK1	PANK2	VPS13A	GNB1
HP_ABNORMALITY_OF_THE_PUBIC_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PUBIC_HAIR	ZSWIM7	DMRT3	NR5A1	GJB2	MDM2	AXL	FEZF1	AR	BNC1	PSMC3IP	NUP107	WT1	ZFPM2	MRPS22	COL17A1	GNRHR	WDR11	NR0B1	ITGB4	PPP2R3C	SPRY4	LSS	VAMP7	DHX37	DUSP6	FOXL2	HLA-DRA	APCDD1	BMP15	POLR3H	GATA4	ANOS1	LHB	GNRH1	CYP17A1	SRA1	SRY	GJB6	SPIDR	ORC6	EPS8L3	WWOX	FSHR	FGF17	SOX9	CYB5A	CCDC141	TP63	SEMA3E	HR	FSHB	MAP3K1
HP_ABNORMALITY_OF_THE_AXILLARY_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_AXILLARY_HAIR	DMRT3	GJB2	AXL	ZBTB20	FEZF1	TBX3	PSMB8	NR5A1	AR	WT1	ZFPM2	CCBE1	ADAMTS3	COL17A1	GNRHR	WDR11	NR0B1	ITGB4	MAP3K1	FAT4	PPP2R3C	SPRY4	DSC3	LSS	SNRPE	VAMP7	DHX37	DUSP6	LPAR6	LIPH	HLA-DRA	APCDD1	APOE	GATA4	LHB	GNRH1	CYP17A1	SRA1	SRY	GJB6	ORC6	EPS8L3	WWOX	AXIN2	TP63	FGF17	SOX9	CYB5A	CCDC141	SEMA3E	HR	FSHB
HP_FRAGMENTED_EPIPHYSES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRAGMENTED_EPIPHYSES	COMP	COL9A3	KIF22	COL9A2	COL9A1
HP_SYNOSTOSIS_INVOLVING_BONES_OF_THE_UPPER_LIMBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNOSTOSIS_INVOLVING_BONES_OF_THE_UPPER_LIMBS	BMPR1B	BRD4	PAX3	HOXD13	MYH3	DNAJC30	RAD21	SMAD6	LETM1	KAT6B	CPLX1	VPS37D	MECOM	LRP4	WNT7A	NOG	FGFR2	MAF	B3GALT6	LMBR1	PTDSS1	NRAS	FGFR3	ZIC1	MAP3K7	HOXA11	COLEC10	CBL	BCOR	GSC	EIF4A3	SALL4	TFAP2B	SETBP1	CTBP1	RRAS2	METTL27	NSD2	XYLT1	ATP7A	ELN	EVC2	TCF12	RBM8A	SOS2	HDAC8	TWIST1	CSGALNACT1	CHSY1	POR	SHH	FGFRL1	SMOC1	GDF5	DONSON	CHST3	TBX5	PTPN11	SMC3	SPRED2	GTF2IRD1	RECQL4	B4GALT7	FBLN1	GLI1	FGF16	RRAS	MRAS	BUD23	SMC1A	BHLHA9	RIT1	IHH	SF3B4	ESCO2	RASA2	FGFR1	PIEZO2	RAF1	FLNA	BAZ1B	BCL7B	MLXIPL	LZTR1	CYP26B1	MACROH2A1	NCF1	MASP1	HOXA13	PITX1	CANT1	FLNB	EIF4H	RPL26	TBX22	NIPBL	GTF2IRD2	LIMK1	COLEC11	FKBP6	NXN	RFC2	TBL2	TBX15	TMEM270	KRAS	GTF2I	NONO	B3GAT3	DYNC2LI1	ANAPC1	CLIP2	APC	BICRA	FGF9	SOS1	PQBP1	EVC	ROR2	STX1A	DHODH	PRKACA	PRKACB
HP_SYNOSTOSIS_OF_JOINTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNOSTOSIS_OF_JOINTS	BMPR1B	BRD4	HOXD13	SMAD6	FKRP	MKKS	KAT6B	ABCC6	VPS37D	MECOM	LRP4	WNT7A	FGFR2	ACVR1	B3GALT6	LMBR1	FLNA	GLI3	MEOX1	MAP3K7	CBL	BCOR	SALL4	CTBP1	RRAS2	METTL27	PAX3	SLC26A2	XYLT1	ELN	TCF12	HDAC8	SHH	FGFRL1	IL1RN	SMOC1	DCC	TBX5	GDF5	PTPN11	ZIC3	GTF2IRD1	CHSY1	AFF4	ANKRD11	RECQL4	B4GALT7	NTN1	DKK1	FGF16	RRAS	MRAS	CHD4	GDF6	SMC1A	BHLHA9	RIT1	IHH	FGFR3	FGFR1	MYH3	CHRND	VANGL1	BCL7B	MLXIPL	ASXL2	NADSYN1	NOTCH3	CYP26B1	MACROH2A1	CHRNG	NCF1	CHN1	MASP1	HOXA13	NOG	CANT1	HGD	TWIST1	MAP3K20	PTCH2	NALCN	RPL26	TBX22	HES7	PTCH1	COLEC11	PTH1R	FKBP6	SMAD4	RFC2	TBX4	RAD51	PCNT	TBL2	TMCO1	KRAS	COL2A1	GTF2I	POLR1D	SOX5	SUFU	DONSON	ATP7A	CLIP2	AEBP1	EVC2	GDF3	KANSL1	BICRA	TFAP2A	FGF9	PQBP1	MAFB	EVC	MAF	ROR2	STX1A	ENPP1	DHODH	HOXA11	DNAJC30	RAD21	LETM1	CPLX1	PTDSS1	NRAS	ZIC1	RIPK4	COLEC10	GSC	EIF4A3	TFAP2B	SETBP1	NSD2	SALL1	MYO18B	OFD1	RBM8A	SOS2	CSGALNACT1	BMPER	POR	SOX2	TNNT3	CHST3	FGD1	CDH11	SMC3	SPRED2	FN1	GPC3	FANCI	FBLN1	SF3B2	ASH1L	GLI1	BUD23	FLNB	SF3B4	ESCO2	RASA2	PIEZO2	RAF1	BAZ1B	TNNI2	FUZ	WNT4	LZTR1	GPC4	SIX6	TPM2	PITX1	PUF60	EIF4H	NIPBL	GTF2IRD2	LIMK1	MESP2	NXN	DLL3	TBX15	TMEM270	CHRNA1	NONO	B3GAT3	DYNC2LI1	ANAPC1	DNAL4	APC	TBX6	SOS1	WBP11	PRKACA	PRKACB
HP_SARCOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SARCOMA	BMPR1B	SMARCE1	FAM20A	PRLR	TSC1	SDHD	APC	NF1	REST	EPHB4	PDGFRB	NUTM1	RPS26	ABCA5	PTPN11	MC1R	RPS24	DICER1	GATA1	CDKN1B	EXT1	PTEN	TSC2	FLCN	SEC23B	MLH1	RPS27	RASGRP1	TAF15	MSH2	MSH6	RB1	ADA2	SMO	RPS28	TP53	PDGFB	SPRED1	RECQL4	BUB1B	GNAS	IDH1	IFNG	RPL15	PIK3CA	RPL11	CDKN2B	MLH3	PAX3	KRAS	RPS29	RPL27	ANTXR2	RPL35A	ASPSCR1	AKT1	TRIP13	CTNNB1	SRC	BAP1	SQSTM1	PDGFRA	PTPRJ	DLC1	HRAS	RPS10	FASLG	PTCH1	GJC2	NF2	PDGFRL	SDHB	WRN	CDC73	PTH1R	SDHC	SUFU	CHEK2	KIT	BRD4	CDKN2A	COL4A5	PLCD1	EXT2	RPL18	CDKN2C	FLT4	RPL31	EP300	AXIN2	HEATR3	GDF5	SSX2	RPL5	EWSR1	PTCH2	BRAF	BUB3	SDHA	FH	SPTBN1	CEP57	FAS	FAM20C	USF3	SLC22A18	TERT	RAD54B	NRAS	RPL26	SMARCB1	NBN	RPS19	PDE8B	ATP6V1B2	KCNH1	FLNA	PRKAR1A	PDE11A	TSR2	PTPN12	MCC	BMPR1A	SOS1	FOXC2	MDM2	COL4A6	MTAP	IL6ST	FGFR3	RPS15A	MAP2K1	RPS20	MEN1	NOTCH3	LRP1	AURKA	BUB1	DCC	WT1	NR4A3	PRKACA	PRKCD	TRAF7	ELMO2	CASP10	TLR2	CCND1	RPS17	SSX1	CDKN1A	COL1A1	RPL35	KCNN3	DHCR24	ANAPC1	KEAP1	FOXO1	KLLN	RPS7	IDH2	PLA2G2A	LMNA	GREM1	KRT17	RSPRY1	BAX	PAX7
HP_LEIOMYOSARCOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEIOMYOSARCOMA	BRAF	PDGFRL	FH	AKT1	AURKA	BUB1	DCC	PTPN12	MCC	CHEK2	TP53	APC	SRC	FLCN	TLR2	RAD54B	NRAS	PTPRJ	CCND1	PIK3CA	BUB1B	FGFR3	PLA2G2A	DLC1	MLH3	EP300	BAX	AXIN2	CTNNB1
HP_FIBROSARCOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FIBROSARCOMA	SPRED1	MTAP	COL1A1	APC	CTNNB1	GREM1	BMPR1A	PDGFB	FOXC2
HP_DESMOID_TUMORS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DESMOID_TUMORS	SPRED1	CTNNB1	APC	GREM1	BMPR1A
HP_METAPHYSEAL_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METAPHYSEAL_DYSPLASIA	EXTL3	CDKN1C	SFRP4	TGFB1	AIFM1	SBDS	DYM	ALG3	CWC27	ACP5	PTH1R	GJA1	COL2A1	RUNX2	POLE	HDAC6	DNAJC21	MMP13	GPX4	PIK3C2A	POP1	RMRP	IDH1	NKX3-2	LRRK1	LONP1	TMEM53	EFL1	SRP54	TMEM165	EIF2AK3	FGFR3	COL10A1	LBR	UFSP2
HP_SENILE_PLAQUES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SENILE_PLAQUES	C9orf72	PRNP	MAPT	PSEN2	VCP	TMEM106B	PSEN1	CHMP2B	GRN	ABCA7	TREM2	APOE
HP_ECTRODACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTRODACTYLY	UBA2	EOGT	SVBP	CTSD	LETM1	ARSB	CPLX1	FGFR1	WNT7A	BSCL2	BHLHA9	MAP3K20	HSPB1	GDAP1	WNT10B	TP63	EPS15L1	HMGA2	GLI3	CDH3	FBXW4	PLAG1	DLX5	EGR2	MPZ	GNPTAB	CTBP1	MORC2	NSD2	DLL4	DHCR7	ITGB6	TCTN3	FGFRL1	RBPJ	SEM1	ARHGAP31	TBX5	MMP2	MBTPS2	DOCK6	MED12	SBF2	INF2	NDRG1	CDKN1C	LSS	HSD17B4	SLC52A2	NOTCH1	IDS	BTRC	HINT1	PMP22	NEFL	NXN	PORCN	JPH1	FGFR3	PRX	IGF2	WLS	FGFR2	AHSG	PIGG	IRF6	MCM3AP	CTDP1	NELFA	ROR2	DLX6
HP_PREAXIAL_POLYDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREAXIAL_POLYDACTYLY	CSPP1	NEK1	LETM1	CPLX1	GLI1	BHLHA9	TFAP2A	IFT43	CPLANE1	KIF7	RPGRIP1	TXNDC15	ZNF699	HYLS1	B9D2	KIAA0753	MEGF8	CDC45	TCTN2	FANCD2	RAB23	DYNC2I1	IFT172	TCTN3	SALL4	EXTL3	TMEM107	INTU	CTBP1	COLEC10	NSD2	WDR35	SALL1	OFD1	NEK9	GLI3	TMEM67	EFTUD2	HOXD13	FGFRL1	DYNC2H1	PHF8	KIAA0586	CENPF	FGFR2	IFT80	PITX1	MKS1	SMO	CTU2	TCTN1	ZSWIM6	TMEM231	LMBR1	FLNA	TOPORS	GJA1	CNTNAP2	CHN1	IFT57	CEP290	C2CD3	TMEM237	TMEM216	DYNC2I2	PIGG	PUF60	RNU4ATAC	B9D1	FAM149B1	CILK1	CC2D2A	CEP120	NELFA	MAFB	DACT1	HEATR3	RPGRIP1L	PDE6D
HP_POSTAXIAL_POLYDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTAXIAL_POLYDACTYLY	BMPR1B	BBIP1	NEK1	IQCE	MKKS	LMBR1	WDR19	BHLHA9	IFT43	RPGRIP1	GPC4	LBR	TXNDC15	HYLS1	DDX59	B9D2	MEGF8	TCTN2	IFT52	DYNC2I1	BBS10	BBS12	ARL6	CEP19	EXTL3	TMEM107	INPP5E	IFT140	EVC	WDR35	TMEM231	DYNLT2B	DHCR7	BMP4	TCTN3	GLI3	NPHP1	LZTFL1	TBX3	BBS5	SMOC1	ZNF141	DYNC2H1	CCND2	TTC8	GDF5	MBTPS2	TTC21B	EBP	IFT80	PDE6D	RBM10	GLI1	CD96	RPGRIP1L	TCTN1	GLI2	GDF6	CFAP418	FLNA	IFT74	RAB23	DYNC2I2	IFT172	HOXA13	WDPCP	IFT81	RBBP8	CEP290	KIF7	BBS1	BBS7	MKS1	C2CD3	NPHP3	TMEM237	SDCCAG8	KIAA0586	TMEM216	NCAPG2	GATA6	CC2D2A	HNRNPK	TMCO1	CSPP1	FGFR2	BBS9	BBS2	PIK3R2	ARMC9	CHST11	B9D1	PLAA	EVC2	CEP120	TMEM67	SC5D	TBX1	SYNGAP1	SETBP1	DYNC2LI1	TRIM32	KIAA0753	WNT7A	KIAA0825	OFD1	INTU	SETD5	CRB2	PPP2R1A	TOGARAM1	HOXD13	CIBAR1	AKT3	GPC3	COG6	UQCC2	SMO	SUFU	CTU2	PRKACB	PRKACA	CCDC28B	CPLANE1	IFT27	KIF3B	IFT57	NKX2-5	TTC26	USP9X	SCNM1	ALX3	SCAPER	BBS4	OTUD5	TMEM218	NKX2-6	TGFBR2	CILK1	PORCN	TGFBR1
HP_MESOAXIAL_POLYDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MESOAXIAL_POLYDACTYLY	CPLANE1	FAM149B1	KIF7	TOPORS	TWIST1	CHSY1	HOXD13	GLI3	GJA5	OFD1	MAP3K20	TFAP2B	FGFR2	LZTFL1	TMEM216	GJA8	MKKS	TCTN3	PDE6D	KIAA0753
HP_ABNORMAL_TENDON_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TENDON_MORPHOLOGY	PMS1	NLRP3	FKRP	ARSB	ZIC2	CACNA1E	CTCF	PI4KA	GJB2	HS2ST1	MTMR14	PLCH1	POMT1	ZBTB20	TGM1	LMNA	MFN2	TGIF1	RNASEH2C	KCNJ6	BMP4	FAT4	OPA1	NEFL	SPG11	NODAL	ADAMTS3	SETD2	SALL4	GNPTAB	RYR1	LMOD3	SGCG	LEMD3	KLHL7	FZD2	CDT1	MEGF8	SIX3	HOXD13	TRPV4	FBXW11	VMA21	MSH2	TCTN3	TRAK1	SLC26A2	FHL1	SLC39A8	MYH8	KCNN3	TPM2	ATP6V1E1	SLC25A46	TAPT1	KLC2	PPT1	MECP2	MBTPS2	ZEB2	TGFBR2	B4GALT7	COL6A1	DLL1	CFL2	SKI	UNC80	FANCC	KRT1	UBA1	NALCN	VPS33A	ZNF407	DSE	TUBA1A	COL6A2	RNASEH2B	JAG2	TWIST2	CREBBP	NRCAM	POLR3A	CDC6	LZTR1	TNNI2	REEP1	ERCC5	DHODH	EXOSC9	ANTXR2	GBA1	CHN1	GLE1	MECR	VIPAS39	TOR1AIP1	KRT16	HGD	KAT6B	KIDINS220	PRG4	ERGIC1	PTPN2	ERCC8	SPEG	PPP2R5D	MKS1	MYL2	IL6ST	AIMP1	VPS33B	NCAPG2	TRIM2	GDAP1	CHRNE	HSPG2	TTPA	KDM5C	DMD	COL12A1	KLHL41	BRPF1	SLC39A13	FGF8	KIF1A	ATP6V1A	PMP22	ABHD12	BCAS3	CDON	KCNJ11	GLI2	GRIA4	IL2RA	GNRHR	ZNF335	BICD2	SCYL2	ERBB3	PEX6	MAFB	B3GALT6	CAVIN1	FBN1	SATB2	STAC3	EXOSC3	DPM2	IGHMBP2	SOX10	LAMA2	FGFR1	DHX16	SEPSECS	DLL3	MAF	ABCC9	SRPX2	CUL4B	EZH2	LAGE3	SPRTN	AGTPBP1	GABRD	PTDSS1	TOR1A	GSC	FUCA1	RNF13	SELENON	PLEC	SLC9A6	FCSK	IBA57	SLC25A1	ALX3	GMPPB	KRT9	TGDS	GPC3	RAPSN	ITGB4	CCDC32	DAG1	KIF22	LSM11	NR4A2	PLXND1	ALS2	MT-TE	POLR3GL	ASXL1	BIN1	DARS2	DVL3	ALDH18A1	DOK7	GPC4	WDR73	PHF6	DVL1	PIEZO2	SDHAF1	MYH2	FOXH1	SLC25A19	ABCG8	SIGMAR1	FKTN	SHH	COL7A1	CAV1	DYRK1A	NXN	ITGA7	IL10	FGFR3	GJA8	CARS1	SDHD	IRF5	TUBB3	MAGEL2	LIAS	LDLRAP1	SYT2	ASCC1	SYNE1	PTF1A	APOA2	SLC1A2	FDFT1	DISP1	FLVCR1	P4HTM	IKBKG	ERCC6	HBA1	STIL	WDR4	TMEM43	PRDM5	BGN	CHD7	KIF5A	NAA10	NSD1	MEGF10	GLI3	CDH3	RAB18	MYMK	ZMPSTE24	MEG3	GPKOW	BCOR	EMD	RBM28	ATAD1	IGF2	OCRL	SLC12A6	ARX	ATPAF2	XYLT1	CNTNAP1	SGCA	CD244	DPH1	AP4B1	ORC6	SLC18A3	CDK5	WNT5A	POLD1	IPO8	SMOC1	PEX5	NEB	COL11A2	CCDC47	MYOD1	CPT2	DNA2	SMPD4	SLC5A7	KRAS	PMM2	SNX14	GTF2H5	PTPN22	OTUD6B	WNT7A	DPAGT1	EXOSC8	EXOSC5	CHMP1A	FLNA	CRPPA	SMAD3	TPRKB	ERCC2	PPP1R21	ALG14	KY	IDS	MLH1	TRIP4	FAM20C	MYH3	PEX7	SUZ12	FBN2	NUP88	CRKL	RPL10	ABCD1	DUSP6	SLC6A9	SMC1A	FITM2	FKBP10	FUS	L1CAM	SMAD4	MYBPC1	PORCN	HRAS	TGFB3	ALG3	DNAJB6	TTN	MUSK	EPHX2	TNPO3	PAX7	PIK3R2	IFIH1	BRAT1	ALG13	MLXIPL	RNU4ATAC	PIGN	POMK	GMNN	PHGDH	MAPK1	CEP55	PQBP1	ASAH1	LPIN2	RAB3GAP2	ERCC3	SLC10A7	TBX2	NUP133	PLAA	TRIP13	PTRH2	ALG2	OSGEP	RNASEH2A	VPS53	RAB3GAP1	ACER3	SLC29A3	AP4E1	ATP5F1D	C18orf32	ABCC8	ADCY6	PRKCZ	SETBP1	SDHB	CACNA1C	VRK1	SLC1A4	LDLR	TMEM222	POMT2	NOG	SPRY4	MYO18B	NSRP1	DLK1	H3-3A	GRID2	POR	EMG1	TMEM107	ORC1	FGD1	ALX1	COG1	NFKBIL1	AP1S2	KIF14	NPPA	TDGF1	DDHD2	DCHS1	POU3F4	CRLF1	EPCAM	RPS20	SNAP25	ACTA1	PYROXD1	COL6A3	UFC1	NUP188	GCK	KMT2B	PLP1	NOD2	DPM1	BANF1	LONP1	FIG4	SH3PXD2B	CLDN11	MYOT	RNF113A	GJA5	PMS2	CHST14	VPS11	LIFR	TPM3	LMBRD2	MMP1	ARL6IP1	C19orf12	HINT1	UBE4B	FERMT1	GAS1	ALG8	SDHA	PIGA	HPDL	ERCC1	ACTG2	ATP11A	EPB41L1	ALG9	MLH3	SAMHD1	ADAR	EXOC8	KISS1R	TBX15	COL3A1	DDR2	PEX1	ORC4	IDUA	RIPPLY2	TMEM218	B3GAT3	NT5C2	GAD1	PTCH1	DHCR24	SLC25A4	LARGE1	FGFR2	LMX1B	F8	PCSK9	KRT14	MAP3K7	TFG	STIM1	CACNA1A	CHRNG	IARS2	NACC1	HLA-DRB1	HES7	KIAA0753	TP63	GPT2	GAN	CASZ1	COL11A1	ADGRG6	IDH1	PPP3CA	WIPI2	FBXO28	EXTL3	PDX1	PLOD1	KIAA0319L	PIGL	FLVCR2	ELOVL4	SHPK	COQ7	ZC4H2	MMP2	CCN2	PERP	ERCC4	MED12	GJA1	NKAP	EXOC7	KDM5B	DYM	LAMA5	MTX2	KBTBD13	GFM2	FLRT1	HS6ST1	GFPT1	SLC35A3	ZDHHC9	SLURP1	MYH7	VAMP1	GHR	ERLIN1	DST	B9D2	NSUN2	TBX3	YY1	SPTLC1	CHAT	LTBP4	PRDM16	MET	WDR11	ASXL3	CYP27A1	GTF2E2	APC2	RTL1	DEGS1	CAPN3	PDPN	CDC42	FOXP1	ATR	ANO5	MYPN	LMNB1	IMPDH2	HACD1	COASY	ZBTB42	GJB1	MESP2	VWA1	ZNHIT3	NUP107	ROR2	H1-4	PAX3	GBA2	SOX9	MYL1	EBP	PTH1R	MYO9A	SLC16A2	TNNT1	SPTBN4	MORC2	RTTN	GNB2	ALAD	CCR6	KLHL9	WDR45B	GRIN1	CLPB	ALG12	CHRNA1	EXOC2	CSGALNACT1	TBC1D20	SMS	HEXB	SCARF2	PITX1	REV3L	AP4S1	NSMF	APOB	CHST3	PIGY	MTRFR	LMBR1	MSH6	BHLHA9	CDK13	CCDC22	MMP23B	MTM1	SVIL	GNRH1	CLCF1	EP300	COL2A1	LSS	FUT8	CHRNB1	ABCG5	RIC1	HSPD1	ERLIN2	PROK2	RSPO2	WDR26	CCN6	HUWE1	BMPR1A	COL17A1	TTR	SEMA4A	TBC1D2B	COL25A1	HBA2	SIL1	LBR	LFNG	TLK2	GUSB	FGF17	TSEN54	ZPR1	AUTS2	SMARCAD1	UROS	COL1A2	THOC6	SNRPB	TBX4	AMER1	VARS1	PLA2G6	ANKLE2	APOA1	TGFBR1	CD247	KLHL40	HIKESHI	EIF5A	ADAT3	MAP3K20	MAN1B1	SPART	ITCH	CLCN3	RFC1	CRYAB	COG5	EXOC6B	PRKCG	POP1	CCBE1	RNU7-1	DNM2	COL13A1	SPEN	SYNE2	ECE1	UCHL1	ELN	SMG9	PNPT1	CIITA	SIK3	BAG3	EFNB1	FAN1	PHACTR1	NDE1	MPDU1	H4C9	GNS	GDF5	PSMB9	SMARCA2	KISS1	TRPS1	SRD5A3	MYL11	TRPV3	ECEL1	DSP	CHRND	ACADM	SCN5A	CTDP1	TMEM70	PSAT1	GLUL	RARS2	TNNT3	SEC31A	SLC2A10	PIP5K1C	NGLY1	ANKRD55	AIFM1	CANT1	NDUFAF4	PSMB8	MPLKIP	BRF1	NARS1	TBCD	SLC39A14	LUZP1	GARS1	KIF5C	EED	ARPC4	RFT1	ABL1	PIK3CA	IL2RB	TACR3	ZNF469	BLTP1	TAC3	CNTN1	AHSG	STAT4	KCNAB2	SLC22A4	TREX1	NKX3-2	PSMG2	TFAP2A	PEX2	ADAMTSL2	ESCO2	JUP	ADGRG1	RERE	STAT3	GNPAT	BCR	NIPBL	RIPK4	RAB23	TELO2	STAG2	SLC35A2	UPF3B	SUCLG1	NEK9	PRUNE1	ITGB6	TARS1	APOE	PYCR1	PDHA1	SYT1	GCH1	KIF15	PLEKHG5	USP7	PCNA	GJB6	LGI4	PLOD2	PYCR2	PPP1R17	SON	TP53RK	GORAB	KL	CADM3	RMRP	AGRN	GBE1	PSMB4	ALG1	PLOD3	CDC45	MSL3	ATRX	PSTPIP1	MED13L	ALDH3A2	NEDD4L	SCN4A	LAMB3	INS	MRPS34	KCNK9	EMILIN1	ARID1B	PIGP	CLIC2	AIMP2	SIN3A	DCX	NSDHL	TBR1	OTUD5	MED25	PIK3C2A	PIGS	ORAI1	PROKR2	FIBP	ACADS
HP_SYNOSTOSIS_INVOLVING_DIGITS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNOSTOSIS_INVOLVING_DIGITS	TFAP2B	CHSY1	NOG	GDF5	IHH	RECQL4	MAP3K20	PTDSS1	ANAPC1	BHLHA9	PQBP1	NONO	PCNT	ROR2	BMPR1B
HP_DISTAL_SYMPHALANGISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_SYMPHALANGISM	TFAP2B	NOG	GDF5	PCNT	IHH	BMPR1B
HP_PROXIMAL_SYMPHALANGISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_SYMPHALANGISM	CHSY1	NOG	GDF5	BHLHA9	PQBP1	NONO	ROR2	PTDSS1
HP_SYNOSTOSIS_OF_METACARPALS_METATARSALS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNOSTOSIS_OF_METACARPALS_METATARSALS	TCF12	TWIST1	HOXD13	FGF16	ZIC1	POR	LRP4	EIF4A3	FGF9	PQBP1	SMOC1	GDF5	NONO	BHLHA9	SLC26A2	SALL1	NOG	MAP3K20	FBLN1	FGFR3
HP_SYNOSTOSIS_OF_CARPALS_TARSALS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNOSTOSIS_OF_CARPALS_TARSALS	BMPR1B	PAX3	HOXD13	MYH3	FLNA	NOG	MKKS	MACROH2A1	TPM2	FGFR1	HOXA13	B3GALT6	LMBR1	PITX1	FLNB	NALCN	FGFR2	FGFR3	GLI3	GDF6	MAP3K7	SALL4	NXN	TBX4	ATP7A	EVC2	RECQL4	OFD1	RBM8A	CHSY1	POR	SHH	GDF5	TNNT3	DYNC2LI1	FBLN1	LRP4	GLI1	APC	ESCO2	BHLHA9	EVC	ROR2	PRKACA	TNNI2	SMOC1	PRKACB
HP_LIP_PIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIP_PIT	NECTIN1	OFD1	RIPK4	MSX1	GRHL3	TFAP2A	TP63	KDM6A	IRF6	EYA1	KMT2D	SIX1	SMO
HP_NEOPLASM_OF_THE_COLON	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_COLON	PMS1	MBD4	BUB3	SDHA	POLE	PALB2	CEP57	SMAD4	BRCA1	APC	FOXE1	BRCA2	BMPR1A	RPS26	MINPP1	RPL26	RPS19	HABP2	MSH3	RPS24	KRAS	GATA1	TP53	MSH2	FLCN	MLH1	RPS27	MSH6	TSR2	ADA2	STK11	FAN1	PALLD	RPS28	BUB1B	AAGAB	MDM2	MUTYH	AXIN2	PTEN	NTHL1	RPL15	EPCAM	RPS20	CDKN2A	RPL11	BLM	SMAD7	RPS15A	ENG	KIT	SH3KBP1	RPS29	SDHB	TGFBR2	RPL27	RPL35A	PMS2	TRIP13	CHEK2	PDGFRA	RPS17	COL14A1	SEMA4A	MLH3	RPS10	PIK3CA	RABL3	RNF43	RPL35	SDHC	POLD1	RPS7	RPL18	GREM1	BUB1	RPL31	RPL5
HP_DIFFUSE_CEREBELLAR_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFUSE_CEREBELLAR_ATROPHY	CARS1	ITPR1	ERCC3	ERCC2	TARS1	FMR1	RNF113A	KIF1A	PNPT1	CARS2	EMC1	GTF2H5	TBC1D24	BTD	DAB1	PEX10	TXN2	GTF2E2	MPLKIP
HP_SKIN_PIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_PIT	HNRNPK	GATA6	TBX1	PTCH2	LETM1	CPLX1	TFAP2A	GPC4	KDM6A	KMT2D	EDNRA	SIX1	POGLUT1	GNAI3	MITF	NKX2-5	RAB23	GSC	CTBP1	NSD2	IRF6	SALL1	OFD1	SPECC1L	NKX2-6	ZFPM2	FGFRL1	FLNA	H4C9	EIF2AK3	FLT4	SUFU	CIB1	PAX1	MSX1	EYA1	XYLT2	B3GLCT	JAG1	KCNJ2	HK1	CITED2	GRHL3	RIPK4	LRP1	TP63	ATP2A2	UBE2A	SMO	SYK	EDN1	PTCH1	GDF1	STAG2	ANK1	PLCB4	KDR	GPC3	NPHP3	KAT6A	ZNF462	NECTIN1	POFUT1	PSENEN	POLR1D	MED12	GATA4	GJA5	KRT5	GATA5	MID1	WBP11	AUTS2	PPP1CB
HP_PERIAURICULAR_SKIN_PITS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIAURICULAR_SKIN_PITS	HNRNPK	GATA6	TBX1	LETM1	CPLX1	JAG1	LRP1	SPECC1L	TFAP2A	UBE2A	GPC4	EDNRA	SIX1	EYA1	SYK	GNAI3	EDN1	B3GLCT	MITF	NKX2-5	GDF1	STAG2	RAB23	GSC	ANK1	CTBP1	KDM6A	KMT2D	PLCB4	NSD2	KDR	GPC3	SALL1	NPHP3	KAT6A	ZNF462	NKX2-6	ZFPM2	FGFRL1	FLNA	POLR1D	MED12	GATA4	H4C9	EIF2AK3	FLT4	GJA5	PAX1	XYLT2	GATA5	MID1	KCNJ2	WBP11	HK1	AUTS2	CITED2	PPP1CB
HP_ULCERATIVE_COLITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ULCERATIVE_COLITIS	BACH2	SEMA4D	GPR35	WAS	MASP2	CYBC1	MST1	SLC37A4	INAVA	NOD2	PLCG2	IL37	MAP3K7	TCF4	IL6
HP_CROHN_S_DISEASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CROHN_S_DISEASE	SYK	BACH2	MEFV	CYBC1	PI4KA	FNIP1	IL10RA	INAVA	NOD2	GUCY2C	CTLA4	IL21	CARD10	IL6	PSTPIP1
HP_EMG_MYOTONIC_DISCHARGES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMG_MYOTONIC_DISCHARGES	MTMR14	LRP12	SGCG	SCN4A	DNM2	GNE	HSPG2
HP_EMG_IMPAIRED_NEUROMUSCULAR_TRANSMISSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMG_IMPAIRED_NEUROMUSCULAR_TRANSMISSION	GFPT1	CACNA1D	MYL1	CHRNB1	ALG14	NOTCH2NLC	LAMB2	VAMP1	OPA1	DPAGT1	CHRNA1	ALG2	LRP4	CHRNE	AGRN	RYR1	COLQ	SLC18A3	CHAT	CHRND	TTN	COL13A1	SYT2	RAPSN	SLC25A1	DOK7	SCN4A	SPEG	GMPPB	SLC5A7	SNAP25	AK9	MYO9A	BIN1	MUSK
HP_EMG_SLOW_MOTOR_CONDUCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMG_SLOW_MOTOR_CONDUCTION	ATL3	ATL1	SPTLC2	SPTLC1	DMXL2
HP_MUSCLE_FIBER_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_FIBER_ATROPHY	STIM1	HNRNPK	GFPT1	MAP3K20	MYH7	TTN	LAMB2	VAMP1	TPM3	TMEM43	HNRNPA2B1	LAMA2	RYR1	SPTBN4	AGRN	SPTLC1	COLQ	SLC18A3	ALS2	CHRNA1	CHAT	ACTN2	LMNA	SPG11	MYL2	SARS2	FUS	EMD	MT-CO3	COL13A1	PLOD1	TRIP4	CPT2	SYNE2	TPM2	ITGA7	CHRNE	SELENON	PNPT1	ALDOA	SLC25A1	ACTA1	FHL1	ORAI1	IFIH1	CNBP	ALG14	ANO5	LPIN1	POLG	TK2	SIGMAR1	CASQ1	SYT2	HACD1	SLC5A7	SNAP25	SYNE1	MYO9A	TRAPPC11	HEXB	VPS13A	MT-CO1	STAC3
HP_INCREASED_ENDOMYSIAL_CONNECTIVE_TISSUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_ENDOMYSIAL_CONNECTIVE_TISSUE	MLIP	SELENON	POMGNT1	LAMA2	SYNE1	MYL1	COL6A2	MYH7	SLC12A6	NOTCH2NLC	COL12A1	ANXA11	SGCG	MYOT	ANO5	TOR1AIP1	COL6A3	GIPC1	SGCA	COL6A1	HNRNPA1
HP_MUSCLE_FIBER_INCLUSION_BODIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_FIBER_INCLUSION_BODIES	KBTBD13	KLHL41	RYR1	KLHL40	ACTA1	MYH7	MYOT	CFL2	NEB	GFPT1	DPAGT1	NEFL	ALG2	MYH2	TPM3	NDUFB3	MYPN	LMOD3	TPM2	MYO18B	TNNT1	CRYAB	ORAI1	STIM1	ALG14	FLNC	FHL1	SMPX	CASQ1	GNE	HNRNPA1	PYROXD1	GYG1	KY	GMPPB
HP_MUSCLE_FIBER_TUBULAR_INCLUSIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_FIBER_TUBULAR_INCLUSIONS	DPAGT1	STIM1	ALG2	ALG14	GMPPB	ORAI1	CASQ1	GFPT1
HP_CEREBELLAR_HEMISPHERE_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBELLAR_HEMISPHERE_HYPOPLASIA	PRDM13	PTRH2	LAMB1	MACF1	B4GAT1	SON	ZNF335	TSEN34
HP_CEREBRAL_CORTICAL_HEMIATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_CORTICAL_HEMIATROPHY	MYO5A	ACTG1	ACTB	TCTN3	MBTPS2	EHMT1
HP_SUBDURAL_HEMORRHAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBDURAL_HEMORRHAGE	FGB	ERCC6	GCDH	ERCC8	MMACHC	ITGA2B	FGA	STT3A	FGG	F8	DNM2
HP_EPIDURAL_HEMORRHAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIDURAL_HEMORRHAGE	FGB	IPO8	FGA	SERPINE1	FGG	F8
HP_CEREBRAL_INCLUSION_BODIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_INCLUSION_BODIES	ATXN8OS	MAPT	VPS35	SNCA	PSEN2	VCP	EIF4G1	CYLD	SORL1	SNCB	TBP	ADH1C	APP	NOS3	PLA2G6	GFAP	TOMM40	NPC1	C19orf12	GBA1	PLAU	GRN	MT-TT	DNAJC13	ABCA7	HNRNPA2B1	SNORD118	NPC2	NR4A2	PRNP	HFE	EPM2A	LRRK2	TREM2	ATXN2	PSEN1	NHLRC1	ITM2B	PRDM8	GIGYF2	APOE	GLUD2	HNRNPA1	VPS13C	FBXO7	MPO	RAB39B	TIA1	SNCAIP
HP_LEWY_BODIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEWY_BODIES	ATXN8OS	MAPT	NR4A2	VPS35	LRRK2	SNCA	ATXN2	EIF4G1	SNCB	TBP	ADH1C	GBA1	PLA2G6	GIGYF2	C19orf12	GLUD2	VPS13C	FBXO7	RAB39B	GRN	MT-TT	TIA1	SNCAIP	DNAJC13
HP_ABNORMAL_DENTATE_NUCLEUS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DENTATE_NUCLEUS_MORPHOLOGY	PDGFB	PDGFRB	ERCC8	ATN1	FTL	GFAP	SLC20A2	CLCN3	ERCC6	CYP27A1	SNORD118	CP	DPM1	WDR81
HP_JUVENILE_ASEPTIC_NECROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JUVENILE_ASEPTIC_NECROSIS	COL2A1	RAB3GAP2	TRPV4	SMAD3	DVL1	CREBBP	TRPS1	TREX1	UFSP2	SRCAP	SIL1	COL1A1	ACAN	ADAMTS2	KRAS	DYRK1A	DVL3	FZD2	SKIC3	NEK9	COMP	ACTB	WNT5A	ADAMTSL2	TONSL	FGFR1	COL1A2	ORC1	INPP5K	FN1	EXT1	SLC2A10	LMX1B	COL9A2	MATN3	UNC45A	TINF2	ACTG1	ATP7A	EP300	PHF6
HP_SCLERODERMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCLERODERMA	IGKC	UROD	LEMD3	CLCNKB	SLC29A3	LBR	POLD1	IGHG2	LMNA	UROS	WRN	HFE	SLC12A3
HP_IMMUNOLOGIC_HYPERSENSITIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMMUNOLOGIC_HYPERSENSITIVITY	FOXP3	DNASE1L3	CCL11	ODC1	TGIF1	IL4R	ARSL	ADRB2	MUC7	IL10	SERPINA1	ZNF699	HMGA2	DOCK8	TGFB1	SUFU	IPO8	TLR4	SLC9A3	ELN	ELOVL4	ASXL1	TBX1	C4B	VPS51	STAT4	MTOR	SPIB	SIK3	CLCA4	GP1BB	TBC1D7	CHD1	DISP1	PEX5	FLG	LIG4	STAT5B	WAC	RREB1	NODAL	COX4I2	GP9	ODAD3	CEACAM6	BCL11B	FCGR2A	HLA-G	ERAP1	SCGB3A2	TRAIP	HLA-DQB1	GPR35	SATB2	ALMS1	CREBBP	TNF	LRBA	IDS	SOCS1	KRT74	CSTA	NFKB2	GCLC	IFNGR1	PGM3	IL6ST	DCTN4	IL12RB1	GRHL2	HFE	TBX21	PTGER2	SCN4A	SHH	EDNRA	FOXP1	MED12	HNMT	TNPO3	SLC11A1	IL12A	MLXIPL	GNB1	PTCH1	ALOX5	SLC27A4	BICRA	TNFSF15	DLL1	FGF8	IL12A-AS1	MIF	LIFR	TGM5	PEPD	IGKC	POU2AF1	NSUN2	CDC42BPB	CARD11	SPTBN1	ABCC9	STXBP1	SRCAP	DDX41	ADA	GP1BA	CARMIL2	GNB2	HLA-B	HIRA	PLAG1	IFT172	CASP8	KCNN4	C4A	LMX1B	FGFR1	ZIC2	NEK9	RBM8A	GLI2	IVNS1ABP	IL23R	ARL6	CFTR	MS4A2	ARVCF	FOCAD	MEFV	NOD2	TCF4	SIX3	SLC26A9	TET2	IRF5	USP7	UNC45A	SLC6A14	SPINK5	COMT	CTLA4	HMOX1	AFF4	PLA2G7	CCDC28B	HLA-DQA1	MIA3	GSTM3	CDSN	CDKN1C	SEC24C	MST1	CAMK2B	TDGF1	RIC1	MMEL1	CCR1	STAT3	FOXH1	TTC26	NKX2-1	PSTPIP1	SOX6	CBL	CDON	KIT	KLRC4	IGHG2	CARD10	CDH3	RUNX1	SDHD	SEMA4D	IGF2	IL13	JAK1	JMJD1C	GAS1	UBAC2	ALG9	BBS1	CEACAM3	SRSF2	STX1A	PLCG2	HLA-DPB1	TBCK	UFD1	ERCC2	FAS	EP300	TALDO1
HP_UNILATERAL_CLEFT_LIP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNILATERAL_CLEFT_LIP	MED12	HYLS1	KIF7	MID1	SUMO1	GDF11	TAPT1	KAT5	SMAD4
HP_UNILATERAL_CLEFT_PALATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNILATERAL_CLEFT_PALATE	SUMO1	IRF6	MSX1	DLX4	KAT5	BMP4	CDH11	TP63	CDH1	MED12	ARHGAP29	GDF11	ASXL1	NECTIN1	DLG1	PDGFRA
HP_NON_MIDLINE_CLEFT_LIP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NON_MIDLINE_CLEFT_LIP	PIGN	GLI2	YAP1	DDX59	KAT5	NECTIN1	DHODH	GREB1L	GJA1	ITGA8	MSX1	RAB5IF	SF3B4	TFAP2A	MED12	KIF7	RSPO2	GDF11	TAPT1	FGFR1	RET	IRF6	PTCH1	NBN	SPOP	SMPD4	SUMO1	DLX4	CILK1	CDH1	WNT9B	HOXD13	HYLS1	GFRA1	FGF20	TP63	MID1	B3GALT6	SIX3	CHUK	CTNND1	SMAD4
HP_BILATERAL_CLEFT_LIP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_CLEFT_LIP	SPOP	GLI2	SMPD4	YAP1	DLX4	CILK1	CDH1	IRF6	NECTIN1	MSX1	RAB5IF	MED12	RSPO2	TP63	SIX3	PTCH1	CHUK	CTNND1
HP_BILATERAL_CLEFT_PALATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_CLEFT_PALATE	SPOP	GLI2	YAP1	IRF6	MSX1	DLX4	BMP4	CDH1	NECTIN1	SLC26A2	TP63	MED12	ARHGAP29	ASXL1	SIX3	DLG1	PTCH1	CHUK	CTNND1	PDGFRA
HP_NON_MIDLINE_CLEFT_PALATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NON_MIDLINE_CLEFT_PALATE	GLI2	YAP1	KAT5	BMP4	NECTIN1	CDH11	TP63	MED12	ARHGAP29	GDF11	PTCH1	PDGFRA	SPOP	SUMO1	IRF6	MSX1	DLX4	CDH1	SLC26A2	ASXL1	SIX3	DLG1	CHUK	CTNND1
HP_UPPER_LIMB_JOINT_CONTRACTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_LIMB_JOINT_CONTRACTURE	NLRP3	BCOR	CHRNG	HLA-DRB1	CTCF	GJB2	HS2ST1	HES7	LMNA	TP63	SHH	IDS	FLNA	CASZ1	COL11A1	FBN1	BMP4	NEFL	SPG11	ORC1	ADAMTS3	FBXO28	SETD2	EXTL3	PLOD1	KIAA0319L	PIGL	FZD2	CDT1	COL11A2	ASXL1	UBA1	HSPG2	FBXW11	TCTN3	FHL1	SLC39A8	TGDS	MMP2	DMD	MECP2	MBTPS2	TGFBR2	CCN2	ZMPSTE24	MED12	GJA1	NALCN	COL6A1	TPM2	ALG3	SKI	UNC80	KRT1	SLC26A2	KDM5B	PIEZO2	ZNF407	ORC4	MUSK	TUBA1A	JAG2	MYH3	POLR3A	TRPV4	CDC6	SLC35A3	DDR2	ZDHHC9	TNNI2	ERCC5	DHODH	COL6A2	TOR1AIP1	TBX3	KRT16	SPTLC1	PRG4	ERGIC1	PRDM16	SH3PXD2B	MKS1	MYL2	IL6ST	ASXL3	APC2	RTL1	PDPN	ATR	ANO5	PMP22	COL6A3	HACD1	MESP2	MYBPC1	PEX6	NUP107	LAMA2	ROR2	B3GALT6	ACTA1	PAX3	KDM5C	IGHMBP2	SOX9	RNU4ATAC	TWIST2	MYL1	DHX16	DLL3	CUL4B	EZH2	LAGE3	SPRTN	GABRD	TNNT1	PTDSS1	MORC2	RTTN	GNB2	CCR6	NAA10	MAFB	OSGEP	CSGALNACT1	NSD1	ALX3	SCARF2	PITX1	KRT9	GPC3	CHST3	PIGY	ERCC6	TBX15	LMBR1	PTRH2	KIF22	SELENON	MMP23B	SYNE1	POR	POLR3GL	ERCC1	SVIL	ALDH18A1	CLCF1	DOK7	COL2A1	GPC4	WDR73	ERLIN2	RSPO2	ALS2	CCN6	SIGMAR1	MAP3K7	TBC1D2B	COL25A1	CAV1	DYRK1A	NXN	ITGA7	SLC29A3	LFNG	TLK2	IRF5	TUBB3	UROS	SNRPB	AMER1	FDFT1	FGFR3	FLVCR1	EMD	P4HTM	IKBKG	HOXD13	ADAT3	MAP3K20	RPL10	TMEM43	COG5	KIF5A	MEGF10	MYOD1	EXOC6B	CDH3	MEG3	CCBE1	GPKOW	FAT4	IGF2	TGFBR1	SPEN	OCRL	SYNE2	ECE1	DVL3	XYLT1	SMG9	ORC6	SIK3	WNT5A	IPO8	SMOC1	SLC39A13	EFNB1	H4C9	CPT2	GNS	TRPS1	SRD5A3	MYL11	WNT7A	COL12A1	FBN2	ECEL1	KY	CTDP1	TMEM70	RARS2	TNNT3	SMAD3	TPRKB	ERCC2	SUZ12	CANT1	NUP88	CRKL	PSMB8	GDAP1	IDUA	SLC6A9	SMC1A	LUZP1	FUS	L1CAM	DLK1	ARPC4	WDR4	KAT6B	PORCN	TGFB3	CNTN1	KCNAB2	GMNN	PHGDH	TFAP2A	MAPK1	PI4KA	PQBP1	SMARCAD1	ADAMTSL2	AUTS2	LIFR	NOD2	ESCO2	DVL1	TBX2	NUP133	RERE	BCR	NIPBL	ANTXR2	RAB3GAP1	RAB23	FKBP10	SLC35A2	PRKCZ	UPF3B	TMEM222	NOG	EMG1	PYCR1	GDF5	TOR1A	FGD1	ALX1	EED	PLEKHG5	CRLF1	GLI3	PYROXD1	CAPN3	KMT2B	LGI4	PLOD2	TP53RK	TPM3	CADM3	RMRP	HINT1	UBE4B	FERMT1	SLC25A46	C19orf12	SCYL2	PEX5	PIGA	PLOD3	CDC45	PSTPIP1	ACTG2	SYT2	SLC18A3	LAMB3	KCNK9	ARID1B	PEX1	SIN3A	RIPPLY2	TBR1	TMEM218	B3GAT3	RAPSN	DHCR24	MED25	PIK3C2A	LARGE1	LMX1B	FKTN	KRT14
HP_ABNORMALITY_OF_LOWER_LIMB_JOINT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_LOWER_LIMB_JOINT	CHRM3	MKKS	ARSB	ZIC2	COL2A1	VPS37D	CYP27B1	GDF5	BHLHA9	PI4KA	GJB2	HS2ST1	PLCH1	ZBTB20	MFN2	MYH8	TGIF1	ZNF699	NODAL	SETD2	GNPTAB	RYR1	CAMK2A	FZD2	CDT1	DPYSL5	MEGF8	SIX3	SMAD2	TRPV4	SIX1	SFRP4	SLC35A3	SCN9A	SHH	TCTN3	GP1BB	SLC26A2	SLC39A8	DYNC2H1	TPM2	ATP6V1E1	ZIC3	KLC2	CHSY1	PUS3	ZEB2	B4GALT7	IARS2	COL6A1	CCDC8	COL10A1	DLL1	OBSL1	CFL2	SKI	UNC80	RINT1	VPS33A	ZNF407	PALB2	COL6A2	HK1	RPGRIP1L	JAG2	KRAS	PTH1R	CREBBP	NRCAM	CDC6	BRCA2	POMT1	H3-3B	DDRGK1	TRPS1	TOR1AIP1	WNK1	HGD	MAP3K20	KAT6B	AARS1	GALC	PRG4	ERGIC1	MAFB	PTPN2	COL1A1	PPP2R5D	MYL2	BPNT2	IL6ST	LONP1	C12orf57	FKBP6	DYM	TRIM2	KIF7	RUNX2	HSPG2	CSPP1	DMD	COG1	COL12A1	MAD2L2	SMARCAL1	FGF8	CYP7B1	MCOLN1	ATP6V1A	CDON	RECQL4	GLI2	MACF1	IL2RA	BRIP1	AEBP1	EXT2	COLEC11	RMRP	COL9A1	BICD2	FGF9	EFL1	ARF1	FLT4	EYA1	SCN1B	DHODH	MAN2B1	EXOSC3	RAD21	FLNB	LETM1	FGFR1	DHX16	SNORD115-1	SLC52A3	MYH7	ABCC9	KDM6A	STXBP1	PTDSS1	UBR7	GSC	KMT2D	SALL1	UBE3B	THOC2	FGFR3	SLC25A1	FLNA	GMPPB	B3GALT6	GPC3	FBLN1	PYCR1	DAG1	KIF22	FLNC	SELENON	TBX1	WDR35	VPS13B	CANT1	MAPK8IP3	VAC14	BAZ1B	PRKACA	NRAS	SEC24C	GPC4	WASF1	NOTCH2	SHOX	SDHAF1	FLI1	FOXH1	EIF4H	FGF13	MCTP2	DYRK1A	ITGA7	CARS1	COL1A2	SDHD	PRR12	AP4E1	KIF1A	SPART	THRA	COMP	SOX9	MMP13	HNRNPH1	ATP6AP2	TGFBR2	DYNC2I1	SYT2	MATN3	STUB1	PEPD	SYNE1	COL5A1	HBB	PMP22	FDFT1	DISP1	FANCC	ARNT2	ANKRD55	ATP7A	RPS15A	P4HTM	RNU4ATAC	PRKACB	BMPR1B	BRD4	HYAL1	ERCC6	HOXD13	GLRB	STIL	FA2H	POLRMT	CENPT	COL3A1	TRIP11	MMP9	NF1	UFSP2	MKRN3	KIF5A	COL9A2	COL11A1	GLI3	RAB18	NANS	MAP3K7	IFT52	BCOR	TIMM8A	OCRL	CTBP1	METTL27	DVL3	XYLT1	CNTNAP1	SGCA	DYNLT2B	AP4B1	ANO10	ORC6	INPPL1	SLC18A3	TGFB1	WNT5A	IL2RB	FGFRL1	TONSL	SMOC1	NDUFS8	CCDC47	WDR62	CPT2	OSTM1	CHD4	SLC5A7	GLI1	GRIA3	AP3B1	WNT7A	MAP2K2	LMBR1	CHMP1A	RAB23	BCL7B	MPZ	SMAD3	KY	NCF1	ZFYVE27	MYH3	RPL10	EFEMP2	ABCD1	SLC6A9	ADGRV1	SLC35D1	HACE1	CD247	FKRP	FBN1	IFT172	PIK3R2	IFIH1	FANCI	DONSON	GLB1	HERC2	UGP2	CRTAP	GMNN	BICRA	ARSK	XRCC2	ASAH1	HEATR3	WDR19	COL9A3	SLC10A7	DVL1	ELN	NEB	PTRH2	ALG2	OSGEP	ZNF469	CEP85L	COLQ	PRMT7	HIRA	REEP1	GLRA1	HOXA11	FKBP10	ATP5F1D	DYSF	C18orf32	EIF4A3	SDHB	BRAF	KRT5	EVC2	NOG	MYO18B	POR	DNMT3A	ARVCF	PUF60	PTEN	ALG9	ORC1	FGD1	SCN1A	FANCF	RPL13	PAFAH1B1	TDGF1	BUD23	PITX1	POU3F4	SNAP25	CTC1	SMO	SELENOI	KLHL41	COL6A3	TBX4	DPAGT1	TNNI2	DPM1	FIG4	MIA3	SCN2A	LAMB2	LIFR	TPM3	LMBRD2	FANCM	NSD1	ARL6IP1	C19orf12	GAS1	FGFR2	TTC26	SCYL2	SDHA	PIGA	ATP6V0A2	SERPINH1	PEX16	TBX15	DDR2	CD40LG	USP9X	AIFM1	GPHN	ORC4	JMJD1C	GALNS	CAPN1	SLC34A3	B3GAT3	FANCE	PTCH1	MAP2K1	FANCG	AP4S1	ANAPC1	LMX1B	PORCN	TMEM67	UBA2	CYP3A4	FANCB	HTT	CUL7	KIAA0753	UBE2T	SAMD9L	ACTA1	TMTC3	GAN	IPO8	SPG11	IDH1	EXTL3	PLOD1	STX1B	ATL1	UBA1	CTNS	TRIM8	DHCR7	SLC12A2	TBC1D7	TIMM22	ARFGEF2	MMP2	IDUA	EXT1	GJA1	RREB1	NALCN	KAT6A	SMC1A	GABRD	POMT2	HS6ST1	CD96	LAMA5	CYP19A1	RTN2	GFM2	MLXIPL	MTX2	CHRNG	ERLIN1	LARGE1	NT5C2	LOXL3	PIEZO2	PSMD12	PLA2G6	YY1	TRAPPC12	TGFB2	SH3PXD2B	KIAA0586	HDAC4	RAD51C	CYP27A1	APC2	GJC2	POLR3A	VCP	PRKG2	FANCA	INPP5K	ATR	ANO5	TNFRSF1A	CHST11	SLC2A10	CLIP2	HACD1	KANSL1	ZC4H2	CTDP1	CEP120	GPC6	RFWD3	LMNA	ENPP1	CYP2R1	ATAD1	CPLX1	MYL1	EBP	CSGALNACT1	SPTBN1	CENPJ	MYO9A	SLC16A2	PWRN1	SPTBN4	RTTN	GNB2	CLCN5	ALAD	GPX4	CDC45	ADAMTS2	KLHL9	SLC6A5	PWAR1	NSD2	FBLN5	GABRG2	OFD1	BRCA1	NDUFAF6	DMP1	TNNT3	CHAT	SCARF2	MAP1B	LTBP1	CHST3	PIGY	RETREG1	PSAP	ATRX	PIGT	POLR1A	COMT	PHEX	BPTF	AFF4	ERCC1	SVIL	AKT1	EP300	FUT8	CHRNB1	COL7A1	IFT57	MYOT	ERLIN2	MAGEL2	IHH	SIL1	NTRK1	OCA2	CCN6	NAA10	ERCC4	HRAS	COL25A1	CBS	ERMARD	PTPN22	COX8A	LBR	CLCN7	EZH2	GUSB	BRF1	ALDH18A1	ZPR1	NONO	NLRP3	HCN1	SNRPB	GABRA1	VARS1	RSPRY1	VDR	ANKLE2	EMD	ABCC6	LMNB2	CLCN3	AFF3	COL5A2	DSTYK	COG5	FN1	EXOC6B	HPGD	SLCO2A1	COL13A1	UCHL1	HPRT1	HDAC8	PNPT1	ARID1B	SIK3	BAG3	GTF2IRD1	MBTPS2	SRD5A3	MYL11	FBN2	SOD1	SPAST	ECEL1	GBA2	MAB21L2	PSAT1	SEC31A	BGN	MASP1	VAMP1	NGLY1	PCDH19	GDF6	TBCD	SLC39A14	RFC2	FANCD2	SLC1A4	TBL2	GEMIN4	GATA1	NEPRO	TUBB3	NFIX	GTF2I	FHL1	TRAPPC2	STAT4	TMEM251	TFE3	UBE3A	NKX3-2	EVC	STX1A	DNAJC30	NPAP1	ESCO2	NEDD4L	GFPT1	SMG9	ACAN	YWHAE	GNPTG	TELO2	COLEC10	STAG2	SNORD116-1	SLC35A2	RBM8A	AP4M1	SERPINF1	MAN2C1	ADAMTSL2	RAB33B	TOR1A	SMC3	EIF2AK3	SF3B2	LRP4	ZMPSTE24	DNAJC21	SF3B4	SHROOM4	CAPN3	ZSWIM6	NIPA1	GJB6	LGI4	PKDCC	RAB3GAP2	PLOD2	PYCR2	SATB2	SLX4	AGRN	SLC25A46	NIPBL	GTF2IRD2	POLR3B	LIMK1	FANCL	PSTPIP1	LMOD3	PIGL	TMEM270	ADGRG1	MEFV	NSDHL	ALG14	DYNC2LI1	TNFSF11	GORAB	APC	CLTCL1	RAD51	UFD1
HP_ABNORMAL_MAST_CELL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MAST_CELL_MORPHOLOGY	CYP26C1	TET2	RUNX1	KIT	LYST	SRSF2	CBL	ASXL1
HP_DEVIATION_OF_TOES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVIATION_OF_TOES	DNAJC30	SOX9	CDKL5	ITCH	VPS37D	IL11RA	FGFR2	HOXD13	PRDM5	ERMARD	ACVR1	B3GALT6	TP63	FGFR1	KCNJ5	PCDHGC4	SLC29A3	TTI2	EIF4A3	AEBP1	ATL3	METTL27	ATP6V1B2	SALL1	ELN	C2CD3	KCNH1	TCF12	NOG	FLNA	CREBBP	TBC1D2B	TWIST1	CHSY1	ATP2B1	COL1A2	PTEN	CHST3	SCARF2	BMP2	GTF2IRD1	H4C9	ZEB2	YY1	KAT6A	DYRK1A	HOXA13	ALG3	BUD23	NFIX	NUP107	HNRNPR	SF3B4	FGFR3	TRMT10A	KCNJ2	BAZ1B	AKT1	BCL7B	MLXIPL	WWOX	ZMIZ1	RBBP8	CWC27	NCF1	SLC16A2	RNF6	FLI1	GDF5	PSMB8	USP7	PPP1R15B	DLEC1	EIF4H	XYLT1	CKAP2L	GTF2IRD2	LIMK1	USP9X	FKBP6	RFC2	COG8	PIGH	MYH3	TBL2	ERF	TMEM270	SMARCA2	EZH2	ZNF469	TGFBR2	SATB2	BMPR1B	GTF2I	FHL1	NONO	CHST11	B3GAT3	KCNN3	CLIP2	FGF9	HEPHL1	RSPRY1	DACT1	STX1A	HEATR3	GBA1	RAB3GAP2	EP300	SRY
HP_VITAMIN_B12_DEFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VITAMIN_B12_DEFICIENCY	CUBN	HLA-DQB1	SLC19A1	AMN	ABCD1	GRM7	GUCY2C	CBLIF	LMBRD1	HLA-DQA1
HP_REDUCED_BLOOD_FOLATE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_BLOOD_FOLATE_CONCENTRATION	HLA-DQB1	SLC46A1	OTUD5	ZNF699	HLA-DQA1
HP_ABNORMALITY_OF_VITAMIN_METABOLISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_VITAMIN_METABOLISM	DLAT	CYP3A4	ELN	IARS1	CYP27B1	ABCD4	CYP7B1	MMACHC	SPTBN1	AMN	FAS	SAR1B	ZNF699	BCO1	CLCN5	ALDH18A1	GALNT2	SRP54	ABCD1	ALDH6A1	LMBRD1	FBLN5	DZIP1L	SUCLG1	RNF13	SBDS	MTRR	FARSB	ENPP1	DMP1	RASGRP1	COL7A1	HCFC1	FOCAD	CTNS	TTR	GUCY2C	TCF4	GATA1	MMAA	UROS	SLC10A1	ALDH4A1	SIM1	RPL11	TJP2	CUBN	ACOX2	PTH1R	HLA-DQA1	HLA-DQB1	AMACR	CCND1	GPR35	MST1	SLC30A10	FTCD	MMP1	PRKCD	CD320	KL	DNAJC21	CASP10	SLC19A1	MMAB	APOB	EFL1	MMADHC	CBLIF	FASLG	TTPA	OCRL	SEMA4D	MTR	SLC46A1	SLC34A1	SLC37A4	PRDX1	AKR1D1	OTUD5	SLC34A3	LRP5	CYP2R1	MTTP	GRM7	SUCLA2	PKHD1	RPS10	ACSF3	GALT	SLC52A1	MTHFD1	MMUT	SLC51B	FGF23	VDR	CYP7A1
HP_ABNORMALITY_OF_VITAMIN_D_METABOLISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_VITAMIN_D_METABOLISM	HLA-DQB1	GPR35	CYP3A4	ELN	IARS1	CYP27B1	MST1	COL7A1	MMP1	KL	CLCN5	DNAJC21	CTNS	ALDH18A1	GALNT2	EFL1	SRP54	FBLN5	DZIP1L	SBDS	OCRL	FARSB	ENPP1	SEMA4D	DMP1	SLC34A1	FOCAD	SLC37A4	SLC34A3	LRP5	CYP2R1	TCF4	GATA1	MTTP	UROS	PKHD1	RPS10	GALT	SLC51B	SLC10A1	FGF23	VDR	RPL11	ACOX2	PTH1R	HLA-DQA1
HP_LOW_LEVELS_OF_VITAMIN_D	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_LEVELS_OF_VITAMIN_D	OCRL	HLA-DQB1	FARSB	SEMA4D	GPR35	ELN	COL7A1	MST1	FOCAD	SLC37A4	MMP1	TCF4	GATA1	MTTP	DNAJC21	CTNS	ALDH18A1	UROS	GALNT2	PKHD1	RPS10	GALT	SLC51B	SLC10A1	EFL1	SRP54	FGF23	RPL11	FBLN5	DZIP1L	ACOX2	PTH1R	SBDS	HLA-DQA1
HP_ABNORMALITY_OF_VITAMIN_E_METABOLISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_VITAMIN_E_METABOLISM	MTTP	DNAJC21	SEMA4D	GPR35	PKHD1	MST1	SLC30A10	APOB	FOCAD	SLC51B	EFL1	SRP54	AKR1D1	CYP7A1	DZIP1L	TCF4	SBDS	TTPA
HP_POLLAKISURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLLAKISURIA	ALDH18A1	FA2H	BNC2	FMR1	HOGA1	FAR1	NBN	DYSF
HP_DYSURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSURIA	CARMIL2	APRT	GPR101	ALMS1	WFS1	HMBS	AIP	SPART	HLA-B	IKZF1	BNC2	LAMA3	LAMC2	HOGA1	LAMB3	CISD2	HPRT1	AGXT
HP_ANURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANURIA	CFHR1	CFB	CFI	C3	REN	CD46	AGT	CFHR3	THBD	AGTR1	MYH11	ACE	CFH
HP_OLIGURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OLIGURIA	PAX2	IRF5	APRT	HLA-DRB1	PKHD1	SLC25A20	PBX1	CAV1	CCR6	MT-CO3	SLC22A12	RYR1	CCN2	LPIN1	MT-CO1	DZIP1L
HP_NEOPLASM_OF_THE_THYMUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_THYMUS	PTEN	CDKN2C	AKT1	CDKN1B	CDKN2B	MEN1	CDKN1A
HP_THYMOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THYMOMA	CDKN2C	CDKN1B	CDKN2B	MEN1	CDKN1A
HP_LIVER_ABSCESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIVER_ABSCESS	CYBA	IGKC	CYBB	IRAK4	ABCB4	NCF1	NCF2	IGHG2	NCF4	PKHD1	CYBC1	CTSC
HP_ABNORMAL_BLOOD_PHOSPHATE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_PHOSPHATE_CONCENTRATION	VDR	GNAS-AS1	GNAS	ABCC6	CYP3A4	CYP27B1	TNFSF11	PTH1R	FAH	POLRMT	STX16	FGF23	GCM2	SLC34A1	ENPP1	STAT6	CLCN5	GATM	MEN1	SLC2A2	MT-CO3	PRKAR1A	CTNS	INPPL1	FAM111A	NDUFAF6	DMP1	CASR	KCNJ18	HNF4A	CACNA1S	LPIN1	PTH	CLCN7	TBCE	PDE4D	SLC9A3R1	AP2S1	RYR1	PHEX	ALPL	OCRL	CDC73	ALDOB	FAM20C	KL	NAB2	SNX10	NRAS	GALNT3	KRAS	EHHADH	TCIRG1	COL4A3	SLC34A3	CYP2R1	TNFRSF11B	HRAS	PGAP2	GNA11	MT-CO1	GABRA3
HP_ABNORMAL_CALCIUM_PHOSPHATE_REGULATING_HORMONE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CALCIUM_PHOSPHATE_REGULATING_HORMONE_LEVEL	FAM20A	GNAS-AS1	CDC73	SDHB	GNAS	CYP3A4	CYP27B1	STX16	GCM2	VHL	KL	PRKAR1A	TMEM127	CLDN16	RNU4ATAC	MDH2	MEN1	SOST	CASR	CDKN1B	NF1	RET	AIRE	CDKN1A	OCRL	SLC34A1	FH	SDHC	SLC25A11	CYP2R1	PDE4D	PTH	KIF1B	SDHD	MAX	TBCE	SLC34A3	TRPV6	TBX1	SDHA	CDKN2C	ADORA2A	CLDN19	CDKN2B	VDR	PHEX	DLST	SDHAF2
HP_INFLAMMATORY_ABNORMALITY_OF_THE_EYE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFLAMMATORY_ABNORMALITY_OF_THE_EYE	DNASE1L3	BRD4	NLRP3	WIPF1	IARS2	HLA-B	TFRC	GJB2	ADAM17	BAP1	SLC39A4	ATOH7	IL10	MBTPS2	TCF3	ALOX12B	TLR4	TERT	MALT1	ERCC6	PLG	SREBF1	IL6	STAT4	STX16	HDAC8	TRAF3IP2	RASGRP1	BTK	IL2RB	NCF1	NHP2	GJB6	TNFRSF13B	COL17A1	TNFRSF1A	HLA-DRB1	IL2RA	ERCC4	GJA1	NOP10	PARN	POLH	KAT6A	CYBA	MMP1	PSMB9	RAG2	ERCC8	IRF4	TP63	UROS	TINF2	FOXC2	SMC1A	EPCAM	CYBB	GTF2H5	FGFR3	RTEL1	ERCC3	CTLA4	ERAP1	STX11	PAX6	IGHM	GPR35	FGFR2	LRBA	PRTN3	TKT	ANKRD55	HLA-A	PSMB8	CYBC1	MPLKIP	PIK3R1	PTPN2	FGF10	IFNGR1	GNAS	HLA-DPB1	IL6ST	IKZF1	TNFRSF13C	FOXP1	USB1	XPC	CTC1	FASLG	WAS	GTF2E2	MSMO1	CD247	CD19	NTRK1	ICOS	NPM1	LACC1	DKC1	AP1B1	CR2	RAG1	MTTP	COL4A5	PLCD1	PIGN	CD79B	ZEB1	GSN	TGM1	IL12A-AS1	NOD2	RAD21	ERF	HLCS	IKBKG	BLNK	FAS	UROD	ERCC2	PERCC1	WRAP53	IL12B	VPS33A	TNFAIP3	DDB2	PLEC	MLX	SF3B1	AEBP1	C4A	PTPN22	IL12A	CAPN5	XPA	PNPLA1	IL23R	TARS1	GNA11	MEFV	NIPAL4	REV3L	NCF2	SMC3	SLC35C1	NLRP1	TCF4	LBR	COL4A6	GATA1	CARS1	BIRC3	EGFR	PLXND1	CST6	CYSLTR2	BLM	LRRC8A	TYMS	PAX1	IGSF3	FBN1	SCN9A	RNF113A	BTNL2	MST1	CD27	PRKCD	CCR1	GNAQ	ALDH3A2	FERMT1	NIPBL	CASP10	PSMB4	ERCC1	COL7A1	ABCA12	ST14	MIF	BTD	RNF125	KLRC4	ARPC1B	AIRE	SLC29A3	ALOXE3	CERS3	CRLF1	SEMA4D	BCL10	HLA-DPA1	MAB21L1	IGLL1	UBAC2	APOE	STUB1	SAMD9	CLTCL1	TBX4	ERCC5	NCF4	CD79A	TERC
HP_EPISCLERITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISCLERITIS	DNASE1L3	NLRP3	MBTPS2	SLC29A3	PSMB8
HP_ABNORMALITY_OF_THE_SUPRAORBITAL_RIDGES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_SUPRAORBITAL_RIDGES	GATA6	TBX1	HBA1	NSUN2	PITX2	PTH1R	ABCC9	RBMX	LBR	IDS	FOS	FLNA	PEX11B	LAS1L	ZIC1	SLC25A24	RAB23	FGFR1	KRAS	BRAF	PEX12	SOX11	MEGF8	MAP2K2	SPOP	FREM1	TCF12	NKX2-6	SIK3	ZFPM2	GRIA3	COL11A2	PEX3	LIG4	PEX5	EDA	MYOD1	KCNJ8	PEX10	FLT4	PAK3	PIK3R1	TOE1	RBM10	TAF1	PRMT7	SOST	LZTR1	ESCO2	PEX2	PDGFRB	CITED2	PHF6	PEX6	SP7	JAG1	SEC23A	PPP1R21	PEX19	PEX14	LMBRD2	PHF8	FBXO31	AP1G1	PEX16	TWIST1	PPARG	GDF1	KNSTRN	MAP3K7	NKX2-5	PIK3CD	NEU1	PEX1	BSCL2	KIF11	HBA2	KDR	SKIC3	UBE2A	PEX13	POLR3A	OPHN1	PRR12	CHD8	FGFR2	FHL1	MASP1	GATA4	GHR	GJA5	ERCC4	MAP2K1	ARX	FGFR3	PSMC3	PEX26	HDAC8	ZSWIM6	GATA5	CAVIN1	CAV1	TRAPPC9	SUZ12	RPS6KA3	ANTXR1	SHANK3	AGPAT2
HP_PERIORBITAL_EDEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIORBITAL_EDEMA	DNAJC30	KPTN	VPS37D	DUX4	SPTBN1	CAMTA1	ANLN	COL5A2	DHX30	EPHB4	LTBP4	KCTD1	SLC29A3	TGFBI	GNPTAB	SMCHD1	RIN2	POMP	COL4A3	TBC1D8B	METTL27	FOXG1	FRMD4A	SOX18	NUP93	SERPING1	PLCE1	ACTB	AIP	COQ8B	NPHS2	SLC35C1	GTF2IRD1	ARHGDIA	TNFRSF1A	PTPRO	KAT6A	PSMB9	WT1	BUD23	SUMF1	SNX14	ACTG1	CTLA4	CRB2	BAZ1B	MED12L	ELN	NUP37	IGSF3	XPNPEP2	BCL7B	MLXIPL	MYO1E	EMP2	NCF1	PRTN3	GAPVD1	PIEZO1	NUP85	MAGI2	INF2	EIF4H	SHANK3	APOL1	PEX5	PSMB4	ANKFY1	NUP205	GTF2IRD2	LIMK1	KNSTRN	NUP107	DNMT3B	HLA-DPB1	PIK3CD	FKBP6	NPHS1	RFC2	PSPH	TBL2	CD2AP	TMEM270	PAX2	ADAMTS2	CDH11	MYD88	GTF2I	HLA-DPA1	ACTN4	KIF1A	NUP160	TRPC6	POU4F1	CCBE1	COL1A1	CLIP2	NUP133	GPR101	COL5A1	PTPN22	PEX2	FRG1	GSN	ANTXR1	ZNHIT3	ARHGAP24	STX1A	DAAM2
HP_PALPEBRAL_EDEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALPEBRAL_EDEMA	XPNPEP2	SOX18	KPTN	DUX4	SPTBN1	CAMTA1	COL5A2	DHX30	SHANK3	PEX5	KCTD1	RIN2	FRMD4A	SLC29A3	KNSTRN	TGFBI	DNMT3B	PIK3CD	GNPTAB	SMCHD1	FOXG1	PSPH	ADAMTS2	ACTB	CDH11	AIP	KIF1A	SLC35C1	POU4F1	KAT6A	COL1A1	GPR101	COL5A1	PEX2	SNX14	FRG1	GSN	ANTXR1	ZNHIT3	ACTG1	MED12L
HP_FEMORAL_HERNIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEMORAL_HERNIA	SLC26A2	DIS3L2	COL1A1	FANCB	PTDSS1	ADAMTS2	DVL1	WNT5A	TBX1	ADAMTSL2	EHMT1	COL1A2	TRIP11	DVL3	FZD2	ATP7A	SMAD4	SLC2A10
HP_ABNORMAL_LOCALIZATION_OF_KIDNEY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LOCALIZATION_OF_KIDNEY	UBA2	KAT5	SEMA3E	FANCB	VPS37D	LRP4	FANCA	UBE2T	DEAF1	HNRNPU	AFF3	DSTYK	DDX59	RPS26	MAP3K7	FANCD2	SMARCB1	CCBE1	ADAMTS3	XRCC4	EXTL3	SALL4	FAT4	RPS24	KDM6A	GATA1	METTL27	RAB18	STAG1	ELN	DHCR7	ARID1B	MNX1	RPS27	FANCE	GLI3	ADA2	SMARCA4	ZIC3	RPS28	GTF2IRD1	AFF4	ZEB2	NRIP1	RBM10	FANCC	RPL15	RPL11	WT1	PALB2	HNF1B	DSE	CFAP418	MYCN	TBC1D20	RPS29	VANGL1	BCL7B	USP9X	MLXIPL	BRCA2	RPL27	RPL35A	SPECC1L	NCF1	CHN1	RAB3GAP2	IQSEC2	SLX4	TBX22	FKBP6	GREB1L	FLII	RAD51C	CD96	RFC2	CC2D2A	RPS10	DDX6	TBL2	UBE2A	PORCN	ARID1A	CHUK	FANCF	MAD2L2	RAF1	KRAS	GTF2I	CHD7	FANCI	DKC1	BMPER	RAI1	WAC	DNA2	SMARCC2	CLIP2	ZMYM2	BRIP1	PIK3R2	COLEC11	THOC6	FGFR1	BICRA	RPL18	STRA6	FGFR2	RFWD3	MAFB	XRCC2	SMARCD1	RPL31	STX1A	RPL5	SC5D	SRY	PAX2	DNAJC30	ESCO2	CDC42BPB	TRIP13	NIPBL	KMT2D	RIPK4	RTTN	GNB2	CAPN15	RPL26	HMGA2	RECQL4	COLEC10	SOX4	CWC27	RBM8A	BRCA1	TSR2	GRB10	PUF60	SMS	DDB1	TCTN3	SF3B2	AKT3	BUD23	RPS19	CTU2	SPINK5	POR	BAZ1B	RPS15A	SMOC1	RARB	RPS20	ARID2	FUZ	RAB3GAP1	WNT4	DYNC2LI1	MCM5	PBX1	SON	FANCM	DACT1	CCND2	EIF4H	LEMD3	KNSTRN	GTF2IRD2	LIMK1	ERCC4	FANCL	NRAS	RPS17	MCTP2	RBBP8	DYRK1A	DPF2	BRAF	SMARCE1	SOX11	SSR4	TMEM270	MRPS34	JAM3	RPL35	FANCG	HNRNPH1	CHST14	SNRPB	APC	HRAS	SALL1	CCNQ	RPS7	HOXD13	PTPN11	RAD51	PIK3CD
HP_COGNITIVE_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COGNITIVE_IMPAIRMENT	PMS1	MT-ND4	DEPDC5	VCP	PI4KA	TREX1	SDHD	SNCB	EEF1A2	MT-ATP6	PRNP	SNCA	GABRA5	C9orf72	MEOX1	SPG11	CYP2U1	NEFL	ABCA5	TMEM240	MT-TC	TSC2	FMR1	ZNF365	DGUOK	NPC2	PSEN1	SEC23B	TBK1	EPM2A	NAGLU	NKX6-2	SCN9A	ROBO3	DNMT1	MSH2	PLA2G6	ITM2B	ASAH1	PPT1	EIF2B5	NTRK2	MBTPS2	ATP7B	PCNT	SERPINI1	MFSD8	POLG	PDGFB	BDNF	LARS2	SCN1A	TREM2	CACNA1A	P2RY11	TMEM106B	CHMP2B	MOG	NIPA1	FGFR3	USP8	YWHAG	COL4A1	MAPT	GALC	CABP4	ERCC8	POMT2	CLTC	DCTN1	CST3	HNRNPA2B1	KMT2A	SULT2B1	TTPA	EIF2B4	NPRL2	CHI3L1	HLA-DQB1	PIK3CA	BBS5	SLC37A4	MT-TS2	HTR2A	MT-TQ	MT-TW	MT-TL1	GOSR2	POU4F1	LIG3	USP48	LARGE1	GABRA2	IL12A-AS1	SDR9C7	LIPN	SCN1B	HTT	SLC1A3	SPRED1	GNA11	VPS35	GNAS	DLAT	MT-ND5	SLC25A4	LAGE3	NOS3	VAMP1	ARSA	CFHR1	COASY	SMARCB1	SCN3A	CCM2	DDB2	DRD3	COG2	DNAJC13	ABCA7	ERCC2	NR4A2	ABCD1	RRM2B	APP	IBA57	HTRA1	CACNA1G	ABCA12	GABRB3	SURF1	CISD2	MYO1H	APOE	SPAST	GJC2	TWNK	ATXN10	WDR45	ATXN1	HEXB	FGF14	SLC7A7	MT-TE	HCN1	SQSTM1	DARS2	ALDH18A1	OCRL	TUBA4A	GNE	GMPPB	MT-TH	JAM2	WDR73	SORL1	POMT1	SDHAF1	CTSF	PEX16	HLA-B	PTEN	DNM1L	GCH1	SPTBN2	GBA1	CRH	SMC1A	ATP6V1A	CLN6	ADA2	SLC13A5	ERCC6	LZTFL1	AUH	ADAMTSL4	MT-TF	KLRC4	NPRL3	BRAF	PDGFRB	DNAJC5	FAS	POLR3K	PPP2R2B	ARV1	MYD88	SPART	NFIA	PARK7	UBAP1	PRDX1	RBM12	ATXN2	STUB1	VPS13C	CHCHD10	FZR1	SYNJ1	PKHD1	GALT	ERCC5	ASPRV1	GBE1	STARD7	IKBKG	PNKP	PODXL	TYROBP	GDAP2	TUBB2B	MATR3	PAH	MMACHC	SCN8A	FA2H	GCDH	CP	COL3A1	IL10	CARS2	GRN	BBS10	KIF5A	NECAP1	C19orf12	PRKAR1B	CSF1R	XRCC4	TIMM8A	RBM28	FGF13	ATP1A3	SYNGAP1	KMT2B	PSAP	STAT4	COQ2	HFE	UGT1A1	FBN1	TSC1	UBTF	GLA	GPC4	DHDDS	CLN8	SLC18A2	KARS1	RTN4R	DNM1	GLUD2	GM2A	FBXO7	FGF12	FTL	KRAS	NAGS	GRIN2A	PIDD1	MFN2	VPS37A	CLN5	ERAP1	PEX6	RAB27A	TPRKB	TRAIP	CREBBP	NOTCH2NLC	PEX19	MLH1	MT-TV	NAGA	WFS1	AP5Z1	TBP	IFNGR1	FKTN	MT-TK	SCARB2	ADD3	FUS	PPP3CA	PEX1	EIF2B1	DCC	ACTB	SNORD118	SPP1	MT-RNR1	ADGRV1	KRIT1	PEX13	PORCN	CLN3	LRRK2	TTC19	NHLRC1	GABRB2	ATP1A2	CHRNA2	MPO	GDF3	HEPACAM	GSN	HGSNAT	CENPE	GJB2	PSEN2	MAOA	KCNA2	NUP133	SGPL1	SPG21	PEX11B	AASS	TERT	TIMMDC1	ZFYVE26	PTPN22	MT-CO1	SDHB	C4A	CLMP	PEX12	MTO1	TARDBP	HSD17B10	SPG7	NUP85	MAG	IL23R	CFAP43	MEFV	FGD1	NR3C1	LAMA1	HNRNPA1	CRLF1	EPCAM	RPS20	CTC1	WWOX	SOST	HLA-DRB1	ALOXE3	PEX2	NIPAL4	GRID2	KCNB1	GNPTAB	SCN2A	FAR1	PDE10A	MICOS13	PMS2	JPH3	DMPK	TP53	FKRP	MT-CO2	SDHA	PDE11A	PLK4	ATP6V0A2	HNF4A	IDS	TTR	FRRS1L	AKT1	MLH3	NF1	KRT83	CYFIP2	COA3	PRDM8	RNASEH1	RNU4ATAC	TK2	PEX26	AFG3L2	MT-CO3	DNAJC6	SYN2	UBQLN2	TBCK	ROGDI	MT-ND1	SMARCE1	CHRNG	SLC20A2	MT-ND6	KCND3	CFH	CACNA2D1	CDK19	TLR4	TUBG1	CHRM3	PRKN	STX1B	PLP1	DZIP1L	UBA1	MECP2	CTNS	COX6B1	SLC25A15	MAGEL2	ATN1	GLB1	DSG4	NDUFB8	EIF2B3	SMO	ATP13A2	MEN1	CEP120	ALOX12B	CAMTA1	GDF5	TLR3	RNF216	ACTL6B	PANK2	GABRD	KCNC3	DCAF17	XPR1	PHOX2B	EDN3	LMNB1	DAOA	GDF6	SPTLC1	TOMM40	KCTD7	BAP1	LTBP4	TUBB4A	CYP27A1	UCHL1	XPC	CCNF	NF2	SKIC3	TGM1	LRPPRC	SCO2	CDH23	TNFSF4	CTDP1	GDNF	NUP107	HCRT	IDUA	NRAS	GBA2	SPTBN1	CENPJ	CFHR3	ADH1C	MCOLN1	PDE8B	TYMP	PDCD10	ATR	KRT86	HTRA2	OSGEP	CHD2	GABRG2	EIF2B2	PRKAR1A	ERCC4	MYORG	MAPK10	KCNT1	PEX5	NIPA2	GIGYF2	MTRFR	MSH6	NDUFAF3	PTS	OPA3	AARS1	PLEKHG4	TRAK1	EIF4G1	SIM1	REEP2	RMRP	AMACR	CLCF1	NOTCH3	HMBS	BBS12	IRAK1	ATRX	APTX	TRAF7	ATRIP	FLNA	ALS2	BMPR1A	SEMA4A	BSCL2	PMPCA	RBBP8	MTOR	LYST	NDUFA6	MT-TP	ARMC5	DMD	ATXN3	CELF2	IRF6	MYH3	SIGMAR1	GABRA1	TIA1	POMGNT1	SDHC	CEP152	CYC1	CYP4F22	PNPLA6	MT-CYB	SLC44A1	PRKCG	CTSH	CHRNA4	CACNA1B	NDP	MT-TT	AP3B2	CNKSR2	TRPM7	NDUFS2	SLC2A1	SUMF1	ITPR1	FAN1	SPR	PEX3	KCNC1	PRKRA	SDCCAG8	MARS2	VPS13A	PINK1	SNCAIP	ERCC3	CHRNB2	CNTNAP2	SLC38A3	CUBN	LAMA2	PCDH19	AIFM1	SZT2	YY1	WDR4	SLC25A13	B3GALNT2	GALK1	CUX2	PARS2	PLAA	QDPR	PRORP	GTPBP3	ATM	ATXN8OS	MTHFR	CTSD	ALMS1	DNAJC3	CYLD	CERS1	CSTB	ATP6V1E1	USF3	TSFM	SLC39A14	L1CAM	ALG13	RIN2	DALRD3	IL12A	XPA	MTFMT	PEX10	ECM1	NBN	SLC7A6OS	SEC61A1	COMT	ATXN7	PRICKLE1	APOL4	ARL6IP6	TGFBR2	TP53RK	APOL2	PEX14	PRKACA	CCR1	SMC3	SUFU	GRIN2D	NPC1	PLAU	LAMP2	SLC2A3	OPA1	ANXA11	HIBCH	TINF2	AARS2	GABBR2	DCX	POLG2	UBA5	UBAC2	SLC13A3	NUS1	KRT81	SLC1A2	RAB39B	KLLN	ACSF3	CYP7B1	EP300
HP_NEOPLASM_OF_THE_HEART	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_HEART	PRKAR1A	PTCH2	PDE11A	MYH8	TSC1	MYH11	IFNG	PRKACA	PTCH1	SUFU	LMOD1	TSC2	PDE8B	SOX6	MYLK	ACTG2
HP_ARTERIAL_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTERIAL_STENOSIS	VHL	DNAJC30	GNA11	VPS37D	LMNA	ADA2	SDHD	FOXE3	PCNT	LDLRAP1	COL3A1	STAT1	IDS	ABCA1	FIG4	MYLK	IL12B	MLX	MYH11	ABCC6	TGFB2	AEBP1	ERCC6	MAX	ACTA2	METTL27	LDLR	THPO	ENPP1	ELN	BRCC3	XYLT1	RET	SMPD1	CELA2A	MAT2A	HTRA1	APOE	GTF2IRD1	HLA-B	FBN1	APOB	BUD23	POU3F4	LOX	XYLT2	AGXT	PNPLA2	JAG1	SMAD4	VAC14	BAZ1B	ARL6IP6	SDHB	ZNF687	TGFB3	PPP1R17	BCL7B	MLXIPL	BEST1	NOTCH3	GHR	ABCG5	NCF1	CYP27A1	ESR1	NF1	ABCG8	EIF4H	TGFBR1	ERCC8	JAK2	APOA1	GTF2IRD2	LIMK1	FKBP6	MFAP5	PPARG	RFC2	TMEM127	MPL	TBL2	GEMIN4	TOM1	HEY2	TMEM270	PRKG1	EPHX2	SMAD2	KIF1B	GTF2I	F12	YY1AP1	ATP7A	LIPC	SLC2A10	CEP19	CLIP2	APOA2	SERPIND1	PCSK9	LRP6	GPIHBP1	TGFBR2	STX1A	CYP7A1	SMAD3
HP_CAROTID_ARTERY_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAROTID_ARTERY_STENOSIS	AEBP1	YY1AP1	ABCG8	ABCA1	HTRA1	MYH11
HP_EXSTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXSTROPHY	MED12	TP63	PAH	UPB1	KRAS	CDH11	ISL1
HP_TENDON_RUPTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TENDON_RUPTURE	IFIH1	HGD	EMILIN1	TTR	COL1A2
HP_NEOPLASM_OF_THE_TRACHEOBRONCHIAL_SYSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_TRACHEOBRONCHIAL_SYSTEM	DICER1	COL4A5	SFTPC	ERBB2	FASLG	TERT	KEAP1	PIK3CA	ERCC6	MUC5B	CASP8	SLC22A18	KRAS	SFTPA2	MAP3K8	EGFR	CYP2A6	IRF1	PRKN	PPP2R1B	COL4A6	BRAF
HP_ASYMMETRIC_GROWTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASYMMETRIC_GROWTH	AKT1	GNA11	CDKN1C	SATB2	IGF2	H19	NRAS	CTSK	KRAS	EBP	AKT2	RERE	PTEN	GABRD	PSMD12	ZNF699	UBE4B	EXT2	CASZ1	HMGA2	PRDM16	LUZP1	PLAG1	PIK3CA	HRAS	MAPRE2	PRKCZ	SPEN	GNAQ	SETD5	RNF125	COL2A1	HOXD13	EXT1	SKI	PORCN	MNX1	HSPG2	ENPP1	USP9X	HNF1B	DMP1	PDPN	DNMT3A	TONSL	GRB10	RASA1	TUBB	KCNQ1OT1	FN1	KCNAB2	AGGF1	KAT6A	EFNB1	SALL1	MMP23B	KCNQ1	MAPK1	DACT1	TRPV4	BPTF	ARL6IP6	PTHLH	ACTB	IKBKG
HP_HEMIATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMIATROPHY	EFNB1	EBP	HRAS	PSMD12	BPTF	ZNF699
HP_LOWER_LIMB_ASYMMETRY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_LIMB_ASYMMETRY	AKT1	SATB2	H19	CTSK	IGF2	KRAS	EBP	RERE	PTEN	GABRD	UBE4B	EXT2	CASZ1	PRDM16	LUZP1	MAPRE2	PRKCZ	SPEN	GNAQ	PIK3CA	SETD5	COL2A1	EXT1	SKI	PORCN	MNX1	HSPG2	ENPP1	USP9X	DMP1	PDPN	TONSL	GRB10	RASA1	TUBB	FN1	KCNAB2	AGGF1	KAT6A	SALL1	MMP23B	MAPK1	DACT1	TRPV4	ACTB
HP_UPPER_LIMB_ASYMMETRY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_LIMB_ASYMMETRY	PORCN	AKT1	H19	IGF2	EBP	MAPRE2	PTEN	TUBB	HOXD13	AGGF1	PTHLH	ACTB
HP_SPINAL_CORD_LESION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPINAL_CORD_LESION	NRAS	RBM8A	DDR2	CREBBP	SLC33A1	KPNA3	SETD2	FUZ	SH2B1	NOTCH3	ABCA1	IL11RA	NOTCH2	NFIA	DDHD2	UBAP1	FOXF1	ACY1	FBLN1	WASHC5	EXT2	RAI1	VANGL1	MBTPS2	DKK1	LEMD3	GLRX5	TBX6	CCM2	B4GAT1	HMGA2	RTN2	PDCD10	CCNQ	CTNNB1	KDM1A	RUNX2	EXT1	EP300	KRIT1
HP_NEOPLASM_OF_THE_ENDOCRINE_SYSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_ENDOCRINE_SYSTEM	PMS1	CYP11B1	SDHB	SMARCE1	SDHC	SDHD	SLC25A11	ZNRF3	VHL	PRKAR1A	PKD2	SLC26A4	FOXE1	ECE1	AIP	TERT	NRAS	MINPP1	APC	KCNJ10	HABP2	SMARCB1	SEC23B	DNMT3A	CASR	MAX	CDKN1B	SDHAF2	PTEN	RET	TP53	RASGRP1	MSH2	FH	SMARCA4	SEMA3D	FAN1	SMO	MEN1	GCGR	IFNG	KRAS	FOXI1	ERBB2	GNAS	ARID1B	PDGFB	JAG1	ATP7A	CDKN2B	HRAS	TG	NRTN	GDNF	MLH1	USP8	ABCD1	BAP1	GCM2	CDH23	CTNNB1	ERBB3	AKT1	BRAF	YY1	FASLG	GPR101	PIK3CA	CCND1	ARID1A	NF1	NF2	IGF2	KIF1B	WRN	CDC73	SEMA3C	SMARCC2	SRGAP1	PKD1	USP48	IDH1	SDHA	CDKN2C	KCNQ1	ATRX	SMARCD1	MAFA	CACNA1S	FAS	USF3	TMEM127	EDNRB	KCNJ11	NKX2-1	MDH2	PDE8B	MSH3	CDKN1C	EDN3	GANAB	SREBF1	SOX4	CYP11B2	PDE11A	CLCNKB	BMPR1A	EPAS1	DICER1	KCNE3	NR3C1	MDM2	MSH6	TSC1	EPCAM	RPS20	CDKN2A	ALG5	ARID2	SCN4A	DNAJB11	TGFBR2	DLST	PMS2	PRKACA	PRKCD	TRAF7	CHEK2	SUFU	DAXX	CASP10	FLCN	TSC2	SEMA4A	DPF2	MLH3	CDKN1A	SOX11	LMNA	ARMC5	BICC1	IFT140	KEAP1	KLLN	KCNQ1OT1	GREM1	ALG9	IDH2	CLCN2	SLC12A3
HP_ABNORMALLY_OSSIFIED_VERTEBRAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALLY_OSSIFIED_VERTEBRAE	VPS35L	ALPL	SLC26A2	SOX9	LBR	DYNC2H1	BMPER	INPPL1	COL2A1	EBP	DYNC2I2	TRAPPC2	TRIP11	WNT3	COL11A2	IFT80	LEMD3	RNU4ATAC	NKX3-2	DYNC2I1	FLNB	HSPG2	WDR35	RSPO2	RMRP	LFNG
HP_CARCINOID_TUMOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARCINOID_TUMOR	SDHD	MEN1	TSC2	IFNG	TSC1	APC	CDKN2C	CDKN1B	CDKN2B	ATRX	CDKN1A	LMNA	DAXX
HP_CARDIAC_DIVERTICULUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIAC_DIVERTICULUM	PMS1	MSH6	TGFBR2	MSH2	EPCAM	BMPR1A	RPS20	KRAS	SEMA4A	PMS2	FAN1	MLH1	MLH3	PIK3CA
HP_BILIARY_TRACT_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILIARY_TRACT_NEOPLASM	BRCA2	PTPN3	RNF43	ARSA	SEMA4D	GPR35	BMP6	PKHD1	MST1	HFE	STK11	PSAP	BRCA1	DZIP1L	TCF4
HP_NEOPLASM_OF_THE_GALLBLADDER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_GALLBLADDER	PSAP	ARSA	SEMA4D	GPR35	MST1	TCF4
HP_AMAUROSIS_FUGAX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMAUROSIS_FUGAX	PMS1	TET2	PRRT2	TGFBR2	MSH2	CALR	ADA2	SH2B3	PMS2	CTNND2	FAN1	MLH1	ADRA2B	YEATS2	HLA-DRB1	HLA-B	MARCHF6	ATP1A2	MSH6	PTPN22	P4HA2	IL12B	CACNA1A	EPCAM	BMPR1A	RPS20	KRAS	CNTN2	TP53	MLX	SEMA4A	MPL	SAMD12	JAK2	MLH3	PIK3CA	SCN1A
HP_LIPOATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIPOATROPHY	POLR3A	PLIN1	RBM28	PSEN2	TNNC1	ACTC1	CAP2	LMNA	ABCC9	MYH6	SCN5A	VCL	PIK3CA	RNASEH2A	FBN1	DES	TMPO	FLNA	LMNB2	FKTN	SGCD	FHL2	PLN	RNASEH2C	PPCS	TTN	TNNI3	RNU7-1	PRDM16	IFIH1	DSG2	PPARG	CLMP	TAF1A	DMD	DOLK	SLC25A24	MYPN	LAMA4	SAMHD1	ADAR	CSRP3	BAG5	ACTN2	HAND2	COL3A1	TNNT2	WRN	MYBPC3	PSEN1	RBM20	DSP	LDB3	TCAP	PDGFRB	NEXN	CRYAB	SDHA	TREX1	PIK3R1	RAF1	LSM11	ANKRD1	BAG3	GATAD1	TXNRD2	TPM1	RNASEH2B	TAFAZZIN	BANF1	FUCA1	MYH7	ACTB
HP_MUCOSAL_TELANGIECTASIAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUCOSAL_TELANGIECTASIAE	ERCC2	ACVRL1	GNAQ	ERCC4	GLA	HLA-DRB1	SETX	LBR	PIK3CA	IRF5	SDHD	NAGA	ATM	ENG	SDHB	GDF2	MASP1	RNF168	CTSA	CCN2	USF3	PTEN	CCR6	SMAD4	KLLN	DDB2	PCNA	CAV1	KIAA0319L	PEX6	ERCC5	AKT1	ERCC3	LIG1	SDHC	XPC	XPA	SEC23B
HP_BARRETT_ESOPHAGUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BARRETT_ESOPHAGUS	MSR1	RAD21	CTHRC1	MYH11	FH	ASCC1
HP_ENDOCARDITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENDOCARDITIS	STAT4	HLA-B	PRKAR1A	IFNGR1	IL23R	TLR4	MEFV	C4A	IL10	IL12A-AS1	CCR1	KLRC4	GBA1	FAS	IL12A	ERAP1	UBAC2
HP_TELANGIECTASIA_OF_THE_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TELANGIECTASIA_OF_THE_SKIN	GNPTAB	SOX18	FERMT1	GNA11	TMC6	GPR35	SLC2A10	IARS2	ERCC4	BLM	HLA-DRB1	PCNA	LBR	MST1	COL3A1	CCN2	WNT10A	PIK3CA	ABCC6	ANTXR2	VPS53	ELMO2	DAXX	CCR6	LIG4	SLC29A3	WRAP53	TERT	DDB2	CAV1	IL7	KIAA0319L	KIT	ARPC4	NF1	USB1	ENPP1	XPC	CTC1	POLE	XPA	NAGA	ERCC2	PORCN	ACVRL1	SDHD	SEMA4D	GLA	DKC1	IRF5	WRN	NPM1	NHP2	ENG	GDF2	ATR	SLC37A4	TCF4	CYLD	NOP10	PARN	CIB1	TMC8	TINF2	SMAD4	XRCC4	LMNA	ATRX	ERCC5	RTEL1	ERCC3	TYMS	ARX	ARL6IP6	TERC	IKBKG	ATM
HP_ABNORMAL_PREPUTIUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PREPUTIUM_MORPHOLOGY	BRCA1	FERMT1	BRCA2	FANCB	NSD1	MAD2L2	CTCF	SIN3A	FANCA	UBE2T	ERMARD	FANCM	FANCI	CENPT	DKC1	AR	FANCE	FANCF	SLX4	FANCG	BRIP1	MAMLD1	ERCC4	FANCL	SETD2	PQBP1	RAD51	RFWD3	RAD51C	XRCC2	PALB2	FANCC	FANCD2	APC2
HP_UROGENITAL_FISTULA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UROGENITAL_FISTULA	CDK8	SLC35A2	DYNC2H1	DLL3	HES7	FREM1	SPINT2	KIF7	RET	MKKS	DACT1	TGFB1	PKP1	SYK	ELF4	POLR1C	CAPN15	DOCK2	DYNC2I1	UBR1	POLR1D	RNU12	TCOF1	LONP1	SALL4	RECQL4	KDM6A	KMT2D	WDR35	SALL1	LFNG	OCRL	IL10RB	MNX1	TCTN3	GREB1L	ITGA8	RIPPLY2	DYNC2I2	DDB1	CD3G	POLR1B	IFT80	PI4KA	PIGN	WNT9B	CCNQ	MESP2	GFRA1	FGF20	MID1	POR	JAK3
HP_RECTAL_FISTULA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECTAL_FISTULA	CDK8	IL10RB	MNX1	TCTN3	FREM1	SPINT2	KIF7	SALL4	DDB1	MKKS	DACT1	POLR1B	POLR1C	DOCK2	PI4KA	SALL1	PIGN	UBR1	POLR1D	CCNQ	RNU12	TCOF1	LONP1	MID1	RECQL4	JAK3
HP_PERITONEAL_ABSCESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERITONEAL_ABSCESS	SMAD4	KRAS	RABL3	CDKN2A	PALB2	BRCA1	PI4KA	PALLD	TP53	TTC7A	BRCA2
HP_CALCIFICATION_OF_CARTILAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALCIFICATION_OF_CARTILAGE	PEX5	MGP	DDR2	ABCC6	ZBTB20	PEX2	SLC26A2	TNFRSF11B	HGD	LBR	ANKH	ENPP1
HP_PULMONARY_EDEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_EDEMA	FSHR	ABCA3	NAA10	PLXND1	SFTPB	TNNT2	SFTPC	CD46	CFI	FOCAD	KIF20A	NKX2-6	MOGS	CFH	PRKAG2	EIF2AK4	HELLPAR	FLNC	MYPN	EPHB4	MT-CYB	MYBPC3	TNNI3
HP_ECLAMPSIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECLAMPSIA	PPARG	NOS3	CFH	HELLPAR	CD46	CFI	LMNA	STOX1
HP_TOXEMIA_OF_PREGNANCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TOXEMIA_OF_PREGNANCY	CYP11B1	F5	LBR	CD46	CFI	LMNA	ABCB4	SPTBN1	NOS3	ATP8B1	NR3C2	HELLPAR	CORIN	ASH1L	HBA1	EP300	ADGRG6	NR1H4	PPARG	SLC25A20	FDXR	DHPS	CFH	HBA2	ABCB11	CYP11B2	STOX1
HP_NEOPLASM_OF_THE_LARYNX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_LARYNX	MSH2	MLH1	RSPO1	NLRP1	MSH6	CAT	PORCN	CDKN2A	TP53	CHEK2	MDM2
HP_NEOPLASM_OF_THE_RESPIRATORY_SYSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_RESPIRATORY_SYSTEM	SPRED1	ZFTA	PERP	TERT	PIK3CA	TSC1	ZNRF3	BAP1	PRKAR1A	WT1	PDGFRB	STAT6	TP53	POT1	SETD2	SLCO2A1	DICER1	SFTPA2	TSC2	SFTPC	RSPO1	FASLG	H19	NDUFAF6	HPGD	MSH2	MSH6	NSD1	PTEN	STK11	GPC3	IFNG	SLC22A18	KRAS	NLRP1	EGFR	AAGAB	MDM2	COL4A6	TRIM28	CASP8	CDKN2A	CTNNB1	AKT1	MLH1	NOTCH3	MAP3K8	CHEK2	NAB2	BRAF	DIS3L2	ERCC6	MBTPS2	COL14A1	CAT	RELA	IRF1	POU6F2	PRKN	PPP2R1B	APC2	TRPV3	WRN	PDE11A	TRIP13	COL4A5	ERBB2	BRCA2	KEAP1	MUC5B	PORCN	EWSR1	LMNA	MST1R	RB1	REST	CYP2A6
HP_DYSMENORRHEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSMENORRHEA	PHKA2	CDKN1C	PHKG2	IGF2	GPR101	PLAG1	LMNA	AIP	CYP17A1	PPARG	ANTXR1	PHKB	CYB5A	HMGA2
HP_METRORRHAGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METRORRHAGIA	PML	ZBTB16	NUMA1	STAT5B	IRF2BP2	F5	FLI1	BCOR	TBL1XR1	FIP1L1	NPM1	HPS5	STAT3	PRKAR1A	RARA	NABP1
HP_MULTIPLE_GLOMERULAR_CYSTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_GLOMERULAR_CYSTS	MT-ATP6	MT-TW	MT-ND1	HNF1B	MT-TV	MT-ND2	MT-ND4	MT-TK	NPHP3	MT-TL1	MT-ND5	MT-ND6	MT-ND3	MYOCD
HP_ODONTOGENIC_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ODONTOGENIC_NEOPLASM	OFD1	OCRL	FGF3	PTCH1	PTCH2	HSPG2	SUFU	APC
HP_MYOSITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOSITIS	FOXP3	STAT4	IL23R	CAPN3	MEFV	IRAK1	STING1	IL10	CCR1	HNRNPA2B1	LPIN1	TNFRSF1A	LAMA2	RNASEH2A	UBAC2	PSTPIP1	HLA-B	PSMB4	PSMB9	RNASEH2C	IRF4	IFNGR1	TREX1	TLR4	LSM11	RNU7-1	IFIH1	PSMG2	MT-CO3	C4A	IL12A-AS1	SAMHD1	KLRC4	SPP1	ADAR	RNASEH2B	FAS	IL12A	ERAP1	MT-CO1
HP_OVARIAN_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVARIAN_NEOPLASM	PMS1	SPRED1	ZFTA	PTCH2	MBD4	DMRT3	DHH	TP53	PALB2	BRCA1	FGFR2	NR5A1	PTEN	BRCA2	ZFPM2	NR0B1	MAP3K1	MSH3	KRAS	RAD51C	VAMP7	DHX37	CDH1	MSH2	FLI1	GATA4	SRY	FAN1	PALLD	DICER1	PIK3CA	WWOX	MDM2	MSH6	MRE11	AKT1	BRIP1	EPCAM	FOXE1	CDKN2A	STAG3	OPCML	MLH1	TGFBR2	WT1	PMS2	SMAD4	WNT10A	CHEK2	RAD51	RAD50	CTNNB1	RELA	MLH3	PTCH1	RABL3	RNF43	ERBB2	WRN	RAD51D	PDE11A	SUFU	PRKN	BARD1	PRKAR1A	KEAP1	SOX9	IDH1	EWSR1	LMNA	IDH2	NBN
HP_SERTOLI_CELL_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SERTOLI_CELL_NEOPLASM	PRKAR1A	PDE11A	DICER1	KEAP1	STK11
HP_GERMINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GERMINOMA	ERBB2	AKT1	CDH1	FGFR2	KEAP1	DHH	STS	MAP3K1	CTNNB1	PRKN	IGF2	DICER1	PIK3CA	OPCML
HP_DYSGERMINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSGERMINOMA	ERBB2	CTNNB1	AKT1	PRKN	CDH1	FGFR2	DHH	PIK3CA	MAP3K1	OPCML
HP_ENLARGED_THORAX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_THORAX	MAP2K1	BCOR	MYH3	ACAN	LZTR1	PCGF2	GATA4	RAB5IF	COL2A1	LBR	SRCAP	CUL7	FBN1	NAA10	RMRP	LMNA	NRAS	KDELR2	POP1	IDH1	BRAF	VPS33A	GPKOW	PTPN11	CBL	TRPV4	FUCA1	INTU	DYM	RRAS2	HRAS	CHST3	SOS2	WNT4	KRAS	BMPER	RAB33B	ACP5	TRAPPC2	P3H1	SPRED2	TRIP11	EIF2AK3	XYLT2	ZMPSTE24	CCDC8	TNFRSF11B	KAT6A	RRAS	MRAS	OBSL1	LRP5	CILK1	RIT1	SOS1	RASA2	WNT7A	PRKACB	MAPK1	RAF1	PRKACA	GUSB
HP_CHRONIC_HEPATIC_FAILURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_HEPATIC_FAILURE	ALDOB	SEMA4D	GPR35	SP110	BMP6	MST1	CC2D2A	HFE	RPGRIP1L	TMEM67	HADHA	INPP5E	TCF4	HADHB
HP_NEOPLASIA_OF_THE_NASOPHARYNX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASIA_OF_THE_NASOPHARYNX	PRKAR1A	STK11	TP53	PDE11A	MST1R
HP_NEOPLASM_OF_THE_ADRENAL_GLAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_ADRENAL_GLAND	CYP11B1	SCN4A	SDHB	MEN1	CACNA1S	APC	VHL	ZNRF3	PRKAR1A	CHEK2	TP53	TMEM127	TERT	MDH2	DNMT3A	CDKN2A	CDKN1B	CDKN1C	YY1	RET	CDKN1A	CCND1	CYP11B2	SDHD	NF1	IGF2	SDHC	FH	SLC25A11	EPAS1	KCNE3	MDM2	KIF1B	MAX	IDH1	KCNQ1OT1	PTEN	SDHA	CDKN2C	KCNQ1	CDKN2B	IDH2	CTNNB1	DLST	SDHAF2	CLCN2
HP_ESOPHAGITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ESOPHAGITIS	PHGDH	TGFB3	MEN1	REL	IARS1	TCF4	GLRB	ADAMTSL2	GRB10	STXBP1	SMAD3	PGM3	FERMT1	TGFB1	DOCK8	SLC2A10	TRAPPC11	TGFBR2	CARD8	CARMIL2	ELF4	GPHN	GLRA1	ADAMTS2	TGFB2	SLC6A5	CDKN1B	LMX1B	RPL11	PSPH	TGFBR1	MYH11	ATP7A	ATAD1
HP_NEUROENDOCRINE_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEUROENDOCRINE_NEOPLASM	VHL	SDHB	MEN1	MAFA	SDHC	APC	DLST	SDHD	SLC25A11	NF1	PRKAR1A	DAXX	TMEM127	KCNJ11	TSC2	MDH2	DNMT3A	SDHA	MAX	CDKN1B	SDHAF2	YY1	RET	CDKN1A	LMNA	CCND1	ARMC5	KIF1B	FH	EPAS1	GCGR	IFNG	TSC1	GNAS	CDKN2C	CDKN2B	ATRX	HRAS
HP_ERECTILE_DYSFUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERECTILE_DYSFUNCTION	GNRH1	HS6ST1	GALC	SMARCE1	CCDC141	PROK2	FGF17	CDH23	GUCY1A1	BMP6	MEN1	LMNB1	COQ2	PIGA	CHD7	NDP	SACS	DUSP6	TTR	FGF8	TRAF7	SUFU	FEZF1	PIK3CA	BAP1	FGFR1	TERT	HJV	SMARCB1	IL17RD	AKT1	HAMP	SEMA3A	HFE	DCC	FMR1	ABCD1	WDR11	CDKN1B	AR	CDKN1A	KISS1R	SPRY4	ATXN8OS	SLC40A1	HESX1	NF2	TACR3	CACNA1G	SOX10	AIP	TAC3	NDNF	ANOS1	SMO	NSMF	FLRT3	PROKR2	IRF4	GNRHR	GPR101	KISS1	HEXB	CDKN2C	PDGFB	CDKN2B	HBB	BMP2	TFR2
HP_NEOPLASM_OF_THE_ADRENAL_CORTEX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_ADRENAL_CORTEX	CYP11B1	SCN4A	MEN1	IGF2	CACNA1S	APC	ZNRF3	TP53	PRKAR1A	KCNE3	CHEK2	MDM2	TERT	IDH1	KCNQ1OT1	CDKN2A	PTEN	CDKN2C	CDKN1B	CDKN1C	KCNQ1	CDKN2B	IDH2	CTNNB1	CDKN1A	CLCN2	CYP11B2
HP_ABNORMALITY_OF_NAIL_COLOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_NAIL_COLOR	ABCA12	TRPS1	GJA1	DSG1	FOXC2	GJB2	PEX6	CAST	PEX1	STK11	KIF11	ATP2A2	ATR	DSC3	KANK2	DSP	PLCD1	RNU4ATAC
HP_THYROIDITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THYROIDITIS	FOXP3	HLA-DQB1	PIK3CA	GPR35	ITCH	IL18BP	TBX2	TTC7A	LRBA	MST1	SOCS1	PRKCD	FAS	STAT1	DCLRE1C	ADA	CASP10	IL7R	FOXD3	SEC23B	RMRP	C1S	ADA2	FASLG	TOM1	PI4KA	SEMA4D	CLCNKB	ZFAT	RASGRP1	RAG2	IL2RA	SLC37A4	POLG	LIG4	STAT5B	NLRP1	CDKN1B	TCF4	RAG1	CHD7	TG	PLCG2	PTEN	IL2RG	CTLA4	AKT1	SLC12A3	HLA-DQA1
HP_GRAVES_DISEASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GRAVES_DISEASE	KCNJ18	CACNA1S	CLCNKB	GABRA3	SLC12A3
HP_NEOPLASM_OF_THE_TONGUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_TONGUE	MDM4	CPLANE1	NEK1	TOPORS	SMARCE1	WDPCP	OFD1	PRKCD	FAS	TRAF7	WRAP53	SUFU	DDX59	KIAA0753	PIK3CA	BAP1	GNAI3	EDN1	TERT	CASP10	SMARCB1	AKT1	C2CD3	INTU	TMEM216	PLCB4	TCTN3	FASLG	KAT6B	KIF7	NF2	RASGRP1	MAN2C1	DYNC2H1	GJB2	SMO	TMEM231	FAM149B1	PDGFB	TMEM107	GJB6	PDE6D
HP_NEOPLASM_OF_THE_ORAL_CAVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_ORAL_CAVITY	MDM4	CPLANE1	NEK1	PTCH2	TOPORS	SMARCE1	WDPCP	APC	OFD1	PRKCD	FAS	PLAG1	TRAF7	WRAP53	SUFU	DDX59	KIAA0753	PIK3CA	BAP1	GNAI3	EDN1	TERT	CASP10	SMARCB1	AKT1	C2CD3	INTU	TMEM216	PLCB4	TCTN3	FASLG	KAT6B	PTCH1	OCRL	FGF3	KIF7	NF2	RASGRP1	MYC	MSH2	MSH6	MAN2C1	MLH1	WRN	DYNC2H1	GJB2	SMO	TMEM231	FAM149B1	PDGFB	LMNA	TMEM107	HSPG2	RSPRY1	GJB6	PDE6D
HP_VAGINAL_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VAGINAL_NEOPLASM	TRIP13	STAT6	COL4A5	CEP57	BUB1	BUB3	BUB1B	NAB2	FH	COL4A6
HP_TYPE_I_DIABETES_MELLITUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPE_I_DIABETES_MELLITUS	FOXP3	HLA-DQB1	MIA3	MT-ND4	DUT	CORIN	GPR35	ITCH	MT-ND5	IL18BP	DNAJC3	KCNJ11	TTC7A	LRBA	MST1	INS	ABCC8	TKT	NEUROG3	STAT1	CNOT1	MT-CO2	STAT3	GCK	EDA2R	KCTD1	CAV1	MT-CO1	CAT	MT-TF	ADA2	DNASE2	FLT1	AIRE	SLC29A3	STOX1	TOM1	MT-ND6	PI4KA	SEMA4D	CLCNKB	MT-TH	MT-TL1	IL2RA	EDA	MMP14	EIF2AK3	TCF4	PSTPIP1	MT-TS2	STUB1	SLC37A4	MT-CO3	MMP2	TLR8	MT-TW	SPI1	HNF1A	MT-TE	MT-TQ	MT-ND1	SLC12A3	HLA-DQA1
HP_RETROBULBAR_OPTIC_NEURITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETROBULBAR_OPTIC_NEURITIS	NOD2	STAT4	HLA-B	IFNGR1	IL23R	TLR4	MEFV	C4A	IL10	IL12A-AS1	CCR1	PRORP	KLRC4	FAS	IL12A	ERAP1	UBAC2	NLRP3
HP_CELLULITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CELLULITIS	ELANE	PIK3CD	IGHM	PIEZO1	BLNK	STAT3	NCF1	PLCG2	EPHB4	CLPB	COL1A1	PIK3R1	TCF3	BTK	PHEX	PSTPIP1	NCF2	AEBP1	KIF11	ARPC1B	GJC2	CYBB	GFI1	LMNA	IL2RA	CYBA	GATA2	RAC2	CXCR4	SLC35A1	SLC35C1	TNFRSF1A	IGLL1	AGGF1	MPEG1	TCIRG1	CD79B	FOXC2	FLT4	SRP54	VEGFC	SHANK3	LRRC8A	CD79A	IL6R
HP_ABNORMAL_CEREBRAL_VASCULAR_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CEREBRAL_VASCULAR_MORPHOLOGY	RASA1	MT-ND4	ALOX5AP	F13A1	CYP11B1	SDHB	WIPF1	SMARCE1	PROS1	ODC1	SLC20A2	VPS37D	ACAD9	SDHD	NDE1	FOXE3	MT-ND6	DIAPH1	CITED2	VHL	TET2	ITGA2	DOCK8	IPO8	RNASEH2C	DNMT3A	F8	TGFB2	MT-TC	MAX	CFH	THPO	ENPP1	BRCC3	SMAD2	CYP26C1	RET	ATP2B1	MT-TL1	MAT2A	FH	KCNJ5	APP	FCGR2C	SMO	FBN1	KRAS	MCCC1	CCDC8	ENG	OBSL1	THSD1	MYH11	PCCB	PKD1	RNASEH2B	MT-CO1	GP1BB	PDCD10	SPARC	ASS1	MLXIPL	ASXL2	LOX	F5	USP8	ABCC6	GLA	PDGFB	BAP1	TGFBR1	ERCC8	RIN2	MT-ND5	MTHFR	FKBP6	TGFBR3	ACTC1	CST3	ANGPTL6	SERPINE1	JAK2	MPL	MT-TK	PCNT	WAS	CCND1	HEY2	NF2	KIF1B	SMARCAL1	WRN	LRPPRC	MT-TS2	PCCA	MT-TW	CDH23	RNF213	MMUT	CLIP2	EPHB4	POLR3F	LIG3	USP48	PTEN	SDHA	PNP	MT-TQ	GATA4	TGFBR2	LMNA	PIK3CA	MYPN	MT-CYB	TNNI3	GATA6	ACTA2	SPTBN1	NGLY1	ATP7A	FGG	TMEM127	GNB2	SMARCB1	MDH2	CCM2	COL3A1	F7	CYP11B2	SAMD9	FARSB	MCCC2	TNNT2	ACTB	SMAD4	CALR	HTRA1	COLGALT1	SLC25A11	PRKCH	TREX1	FLNC	EPAS1	APOB	FN1	SCN5A	AIRE	ITGA2B	NFIA	LSM11	CLCN3	COL5A1	COL4A1	F10	BAZ1B	HBB	ELN	GANAB	AMACR	DNAJB11	CACNA1D	NOTCH3	ABCG5	ATRX	TRAF7	SMAD3	SON	ABCG8	EIF4H	EDN1	B3GALT6	GBA1	TTR	ADA2	MFAP5	MT-TF	CBS	AGXT	PDGFRB	GGCX	GNAQ	PRKG1	MSX2	MYD88	SH2B3	F2	PRKAR1A	PET100	ANTXR1	DLST	NDUFA8	FGA	NR3C1	TBX20	RPL10	GATA2	GCDH	LDLRAP1	PAFAH1B1	BGN	PKD2	STAT1	KMT5B	DPM3	F13B	RNU7-1	DNM2	ERCC6	CPS1	METTL27	XYLT1	TP53	ADAMTS13	WFS1	MT-CO3	MT-TH	TONSL	GDF2	GTF2IRD1	H4C9	NPPA	CPT2	PMM2	SLC19A2	XYLT2	JAG1	OTC	ACTG1	DPAGT1	ZAP70	FLNA	ACVRL1	ALPL	PLIN1	MMACHC	NAGS	BCL7B	COL4A2	SLC2A10	HSD11B2	TLL1	NCF1	KIF20A	MT-TV	AKT1	NKX2-5	MECP2	ALX4	RFT1	SNORD118	RFC2	GUCY1A1	IL6	TBL2	KRIT1	LMAN1	NF1	CD46	CFI	GTF2I	FGB	COL1A1	PIK3C2A	PROC	SIAH1	DYRK1B	GP1BA	STX1A	STAT2	DNAJC30	TANGO2	GAA	NOS3	COL5A2	RNASEH2A	CUL7	MYLK	GNAI3	TERT	LDLR	LMBRD1	H3-3A	SERPINF2	BRAF	SDHC	ALG2	HELLPAR	MCFD2	ZMPSTE24	BUD23	GYS1	CD109	STIM1	ALG5	IVD	SNAP29	MYBPC3	TGFB3	TNXB	STT3A	ITGB3	PIGA	MYH6	RNF168	SUFU	MT-CO2	KANSL1	TPP2	PLXNA1	PLOD3	GTF2IRD2	PRNP	LIMK1	IFIH1	DHPS	MT-ND1	PLCB4	SAMHD1	ADAR	TOM1	TMEM270	LMOD2	BICC1	SIN3A	DCX	PDE11A	IFT140	USP18	IKBKG	ALG9	PCSK9	FHOD3	SDHAF2	CLCN2
HP_DYSKINESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSKINESIA	PMS1	PODXL	ADCY5	SCN8A	EEF1A2	DNM1	FGF14	GABRA5	CACNA2D1	NECAP1	CDK19	MT-ND1	CACNA1B	FOXG1	WIPI2	ATP13A2	FBXO28	GNAO1	VPS35	FGF13	PRKN	ATP1A3	MT-ND5	PGAP1	PLP1	SYNGAP1	AP3B2	STX16	PNPT1	CNKSR2	NDUFS4	NDUFS2	MSH2	DHDDS	SLC2A1	NDUFB8	NDUFS8	FAN1	PDE10A	NTRK2	SLC25A22	SLC18A2	PRKRA	NALCN	SCN2A	SUOX	FGF12	FTL	UNC80	ACTL6B	PANK2	KRAS	WARS2	VPS13A	LRRK2	DDX3X	PINK1	GRIN1	VPS13C	PDGFB	GRIN2B	SYNJ1	COQ2	EXOSC5	GBA2	CACNA1A	TRIM8	CHMP2B	SLC38A3	SLC25A10	MLH1	MECR	KCNMA1	YWHAG	PLA2G6	PARK7	AARS1	NDUFA13	XK	SLC39A14	TMEM43	PIGQ	PNKD	PURA	PPP3CA	ARX	ATG7	SZT2	AGA	DMXL2	PRRT2	C9orf72	NMNAT1	MT-ND6	UCHL1	PIK3CA	MT-ATP6	CHKA	KCNA1	SLC46A1	MT-ND4	LRPPRC	GABRB2	MRM2	INPP5K	ATP1A2	BCAS3	SLC30A9	SCO2	PARS2	MRE11	DEAF1	KCNA2	GABRA2	SIK1	MT-ND2	SCN1B	SLC16A2	IREB2	SNCA	GABRB3	TSEN54	SCN3A	GRM7	DNAJC13	DALRD3	HTRA2	SYT1	SLC6A3	TSEN2	FASTKD2	SURF1	B4GALNT1	ATXN10	GIGYF2	CDKL5	MSH6	NDUFAF3	MT-TV	EPCAM	RPS20	ATXN7	WWOX	MT-TK	TRAK1	EIF4G1	GABRG2	HCN1	KCNN2	KCNB1	CLTC	CUX2	MICU1	TGFBR2	JAM2	CAMK2B	YIF1B	PMS2	CYP27A1	CASK	SQSTM1	GRIN2D	SIL1	MT-TW	KNSTRN	MDH2	BMPR1A	ATP6V1A	SEMA4A	SLC13A5	MT-TL1	MLH3	MT-ND3	POLR3K	PIGP	GABBR2	DPYS	ARV1	CYFIP2	SLC35A1	NEUROD2	GBA1	CELF2	UBA5	NUS1	SLC1A2	ACAT1	FZR1	RAB39B	DNAJC6	PIK3CD	GNAS	DNAJC19	PNKP
HP_ANGIOEDEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANGIOEDEMA	DNASE1L3	XPNPEP2	SERPING1	ANGPT1	PLG	KNG1	MYOF	PLCG2	SPINK5	F12	CPN1	KIT	HS3ST6
HP_ABNORMAL_PIGMENTATION_OF_THE_ORAL_MUCOSA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PIGMENTATION_OF_THE_ORAL_MUCOSA	CDH23	TP53	MTX2	KRT14	ABCC6	USP48	BRAF	XYLT2	STK11	ATRX	ABCD1	USP8	NR3C1	XYLT1
HP_ABNORMAL_TRABECULAR_BONE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TRABECULAR_BONE_MORPHOLOGY	VDR	PORCN	ENPP1	DMP1	CYP27B1	DKC1	NOTCH2	PLCB3	NPM1	NHP2	SLC34A3	RECQL4	CYP2R1	TNFRSF11A	NOP10	PARN	CLCN5	ANAPC1	TINF2	WRAP53	TERT	TRPV4	SLC29A3	TCIRG1	RTEL1	PTH1R	AMER1	USB1	TYMS	CTC1	TERC	TNFRSF11B
HP_PREMATURE_SKIN_WRINKLING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_SKIN_WRINKLING	POLR3A	FBLN5	LZTR1	TWIST2	NEXMIF	ELN	TBL1XR1	LIFR	GORAB	COL3A1	ATP6V1E1	RIT1	CHD2	CSTA	COG5	C1R	ABCC6	EDARADD	ZNF469	PTEN	NAA10	ATP6V0A2	ALDH18A1	PYCR1	COG7	KCNJ6	ADAMTS2	CAV1	TALDO1	H4C5	KRAS	EDAR	FGFR2	BRAF	ENPP1	DKC1	LMNA	ATP6V1A	FGFR3	SMARCA2	MRPS2	CDH11	RAF1	ADAMTSL2	TERT	TOR1A	EDA	MED12	CFTR	MAP2K1	ZMPSTE24	ACD	PIK3R1	RTEL1	TINF2	ALG8	SYNGAP1	PTPN11	SLC6A1	SCN1A	SLC25A24	MAP2K2	AP2M1	MRAS	PARN	TGM5	SLC2A1	PLOD1
HP_LACK_OF_SKIN_ELASTICITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACK_OF_SKIN_ELASTICITY	SMAD3	CYP4F22	CUL4B	PAH	ATRX	PRKACA	COL5A2	ZNRF3	PRKAR1A	USP8	LMNA	ABCC6	FBN1	EFEMP2	TERT	PDE11A	PYCR1	TGFB2	PDE8B	LTBP1	GNAS	CDKN2A	FBLN5	TGFBR1	DLG4	ENPP1	SULT2B1	SMAD2	TP53	HRAS	COPB1	ARMC5	POLD1	WRN	IPO8	BRAF	ABCA12	TGM1	TGFBR2	NR3C1	ALOX12B	CDH23	ZMPSTE24	COL1A1	COL5A1	USP48	SMARCAD1	SPEN	ALOXE3	AIP	CTNNB1	ASPRV1	SDR9C7	NIPAL4	LIPN	ADAMTSL2	MTX2
HP_ABNORMAL_SHARPEY_FIBER_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SHARPEY_FIBER_MORPHOLOGY	HYAL1	CDC73	ENPP1	IL2RB	CLCNKB	HLA-B	DMP1	NOTCH3	MEFV	WRN	SLC12A3	STAT4	TNFRSF1A	ANKRD55	ANKH	PDGFRB	ATP7B	ATP7A	PTPN2	GCM2	KCNJ1	IL2RA	PHEX	MEN1	ALPL	TNFRSF11B	FXYD2	AP2S1	SLC12A1	PTPN22	LMNA	GNA11	CD247
HP_ENTHESITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENTHESITIS	PTPN2	IL2RA	ENPP1	IL2RB	PHEX	HLA-B	DMP1	PTPN22	STAT4	ANKRD55	CD247
HP_ABNORMALITY_OF_THE_CURVATURE_OF_THE_CORNEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CURVATURE_OF_THE_CORNEA	CERKL	PDZD8	PCYT1A	FSCN2	RP1	AP3D1	FANCB	VPS37D	MT-TS2	RGR	ZEB1	IDH3A	FAM161A	PRPF4	COL9A3	PRDM5	UBE2T	CHST6	RPGRIP1	COL3A1	GUCA1B	AIPL1	TEAD1	TUB	SPATA7	FLNA	CC2D2A	COL11A1	CLDN16	PRPF6	PRPF31	SETD2	DPYD	SCAPER	WAC	METTL27	MBD5	SLC7A14	RDH12	PCARE	IQCB1	KMT2B	AGBL5	EDEM3	MAG	IMPG2	RPE65	ARSG	ARID1B	TBC1D2B	TCF4	EYS	PBX1	TBC1D7	CLRN1	SLC39A8	GTF2IRD1	COL17A1	MBTPS2	ZEB2	COL9A1	SHOC2	KAT6A	GNPTAB	BBS2	REEP6	CHD4	PRPF3	RBP3	KDM5B	PDE6G	GTF2H5	MIR184	PALB2	DPAGT1	DSE	PIGQ	EXOSC5	HK1	CHMP1A	PLOD1	CRB1	KIAA1549	BCL7B	SLC2A10	MLXIPL	BRCA2	IFT172	ARL3	ABCA4	GRIA1	NCF1	GPR143	IMPG1	LOXL3	NEK2	RP2	YY1	IFT140	MPLKIP	CHRDL1	RP9	LMX1B	KIF11	TGFB2	SCUBE3	PPP2R5D	SLC4A11	KIDINS220	OFD1	FKBP6	OVOL2	DYRK1A	HDAC4	RAD51C	ARCN1	PIEZO2	RD3	TBCE	ARPC4	RFC2	FANCD2	GTF2E2	NMNAT1	TBL2	APC2	ZFHX4	NEUROD2	PRPH2	HRAS	TRIM37	PACS2	BBS9	BAP1	ZNF469	BLOC1S3	MAD2L2	PROM1	FBN1	GTF2I	IMPDH1	KCNV2	EBF3	VSX1	TUBB4B	FANCA	FANCI	SMG8	AP1B1	CDHR1	TTC8	GATAD2B	TFE3	CLIP2	BRIP1	TGFBI	USP45	DHDDS	RFWD3	ARL6	XRCC2	NR2E3	STX1A	H1-4	MAN2B1	LCA5	LRAT	DNAJC30	PRKAR1B	CEP290	ERCC3	IFT88	CLDN19	KRAS	RERE	CAMTA1	TULP1	GUCY2D	SNRNP200	CNGA1	NIPBL	GLRB	C1QBP	STXBP1	CNGB1	KCNJ13	SLC25A24	GALNT2	ARHGEF18	CACNA1F	HARS1	AEBP1	SEMA4A	MARK3	ARHGEF2	POGZ	PDE6A	MYO1H	NOG	BRCA1	PRCD	UBE3B	ERCC4	TARS1	CFAP418	NSD1	NRL	GNB5	ZBTB7A	FANCF	USH2A	SETD5	ASH1L	BBS1	ROM1	KERA	CARS1	BUD23	SETBP1	ANTXR1	DNAJC21	PRMT7	TNPO2	CA4	ARL2BP	INTS1	COL4A1	ZNF513	MAPK8IP3	RP1L1	RLBP1	ZNF408	COL9A2	POLR3GL	BAZ1B	ELN	CCDC28B	ANKRD11	PAX2	CHD3	BEST1	GDF6	SAG	ERCC2	PPP1R12A	TYR	ZMIZ1	CLDN11	RNF113A	PITX2	EMC1	CAMK2B	CHST14	LMBRD2	FANCM	NR2F1	KLHL7	PRPF8	SLX4	CRX	EIF4H	PIGT	HGSNAT	GTF2IRD2	LIMK1	FANCL	MAP3K7	USP9X	RHO	ROBO3	CEP78	RHOA	IDH3B	ALDH3A2	AHI1	DHX38	COL8A2	TMEM270	KIZ	RNF2	MERTK	FBXW7	OTUD5	FANCE	TOPORS	COL1A2	FANCG	PDE6B	RPGR	MAK	ADNP	NFIX	VARS1	RAD51	AHR	CNGA3	FIBP	COL25A1	FANCC	SMARCAL1	POMGNT1	GRHL2	P4HTM	RNU4ATAC
HP_IRIDODONESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRIDODONESIS	CHRDL1	CPAMD8	ADAMTS17	FBN1	LTBP2
HP_TIBIAL_TORSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TIBIAL_TORSION	SCN2A	RBM8A	SCN1A	SCN9A	PRR12	COL9A3	HCN1	COL2A1	PCDH19	GABRG2	SCN1B	SLC26A2	COL9A2	GABRD	GABRA1	FIBP	STX1B	ADGRV1	SLC29A3	DDX6
HP_SCARRING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCARRING	CERKL	FSCN2	COL1A1	RP1	POLA1	RGR	GJB2	IDH3A	FAM161A	PRPF4	PRDM5	COL3A1	GUCA1B	COL7A1	COL5A2	C1R	EPHB4	FLNA	LEMD3	PRPF6	PRPF31	TGFBR1	SCAPER	PLOD1	TUB	ECM1	SLC7A14	COL17A1	RDH12	PCARE	TGFBI	CYP26C1	IMPG2	EYS	IPO8	COL1A2	SLC39A13	PRDM12	NPPA	TGFBR2	HLA-DRB1	B4GALT7	ERCC4	MMP1	ERCC8	BBS2	UROS	REEP6	COL6A3	PRPF3	RBP3	PDE6G	COL12A1	DSE	CREBBP	KIAA1549	SMAD3	IFT172	ARL3	NOTCH3	ABCA4	DST	FKBP14	IMPG1	NEK2	NGLY1	HLA-A	RP2	CLRN1	RP9	NLRP1	COL6A2	OFD1	AGBL5	CRB1	KRT14	NCAPG2	NMNAT1	CTSC	PRPH2	ZNF469	RPE65	PROM1	NTRK1	CDHR1	ERCC6	KRT5	TTC8	TNFRSF11B	ATP7A	AEBP1	TFAP2A	DHDDS	ARL6	NR2E3	C1S	ITGB4	LRAT	IFT88	IKBKG	EBP	SPATA7	TULP1	SNRNP200	CNGA1	UROD	APC	CNGB1	CARMIL2	ARHGEF18	ADAMTS2	LAMA3	PLEC	SEMA4A	PDE6A	CFI	PRCD	CFAP418	ADAMTSL2	LAMB3	NRL	SLC35C1	USH2A	BBS1	ROM1	GATA1	CA4	ARL2BP	COL5A1	ZNF513	PPOX	RP1L1	RLBP1	ZNF408	NCSTN	GJB6	MBTPS2	BEST1	SAG	EP300	LRP1	CHST14	LAMC2	IMPDH1	CLDN1	KLHL7	PRPF8	FERMT1	PKP1	B3GALT6	HGSNAT	CPOX	MAP3K7	RHO	ERCC1	ADA2	SH3BP2	RHOA	MPV17	IDH3B	AHI1	DHX38	OCRL	KIZ	MERTK	CRX	TOPORS	PDE6B	IFT140	RPGR	COL6A1	MAK	BTNL2	AHR	POMGNT1
HP_ABNORMAL_ARACHNOID_MATER_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ARACHNOID_MATER_MORPHOLOGY	CPLANE1	NRCAM	RAB3GAP2	NRAS	ADAT3	NEK1	ATP6AP1	DNAJB11	STT3A	SCN2A	SH2B1	NOTCH3	KRAS	EBP	SON	PI4KA	SACS	ALKBH8	NSD1	PKD2	DHCR7	KCNC2	SHANK3	NARS1	RTTN	PPP2R5D	SCN1A	OFD1	ZNFX1	GANAB	FGFR2	WLS	PUS3	BICC1	GPSM2	OTUD5	WAC	PUF60	RNU4ATAC	FOXC2	TMEM231	SLC30A9	IFT140	XPNPEP3	PKD1	FGFR1	ALG9	HRAS	DNAJC19	ALG5	ARID2
HP_TONGUE_THRUSTING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TONGUE_THRUSTING	UBE3A	KIF15	OCA2	FOXG1	GRIK2	ZSWIM6	GLYCTK	GABBR2	CDKL5	DDC	BRAF	MECP2	SHANK3	NTNG1	SMC1A
HP_CEREBRAL_VISUAL_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_VISUAL_IMPAIRMENT	AMPD2	PHGDH	TSEN2	ZIC2	CACNA1E	CPSF3	STIL	SPATA5	MTHFS	PLCH1	MT-CYB	MT-ND6	HECW2	AFF3	CDKL5	COG5	TGIF1	CC2D2A	RAB18	NODAL	TIMM8A	PTCH1	MT-TC	NARS2	DIAPH1	PGAP1	SPATA5L1	TDGF1	SIX3	COX6B1	CACNA1B	VPS51	RRM2B	MT-CO3	CCDC47	KAT6A	DLL1	AHDC1	CLCN6	SLC25A1	ARHGDIA	SUOX	TWNK	FOXH1	CLCN4	GABRA2	GAS1	SCN3A	GRIN1	POLG	DPM1	FGF8	NAGA	GRIN2D	PIGQ	TBC1D20	SHH	MT-CO1	SCN1A	HK1	CHMP1A	TELO2	LMNB1	VPS11	PSMD12	MT-TV	RAB3GAP2	VAMP2	TRAPPC12	TSEN54	MT-ND5	MACF1	ARPC4	TUBGCP2	NADK2	POLG2	MT-TK	GABRB1	NEUROD2	CHKA	DOCK7	DISP1	ATN1	GABRB2	MT-TS2	BRAT1	MT-TW	GNB1	CDON	RALGAPA1	GLI2	ASNS	FOXRED1	COPB2	RNF13	FGFR1	SLC25A4	RERE	GLYCTK	TANGO2	ST3GAL5	KIF1A	SNRPN	FGF12	SPTBN4	PRUNE1	CEP85L	NR2F1	DTYMK	CACNA1I	STAG2	SLC35A2	TRAPPC2L	TSEN15	PPP2R1A	MT-TL1	DOHH	H3-3A	FCSK	PIGA	PDSS2	MT-TF	PIGY	TSEN34	ADARB1	PIGT	SELENOI	CERT1	MAPK8IP3	KMT2B	POLR3GL	PARS2	MT-TQ	PYCR2	CHD3	CACNA1D	RAB3GAP1	GRIK2	TRAF7	SON	EMC1	YIF1B	COQ2	MT-CO2	TMEM53	MT-ND1	SMC1A	TBCK	PIGU	PIGP	KIF5A	BRAF	FBXW7	PIGS	GRM7	FDFT1	PET100	ADNP	D2HGDH	SHANK3	SEPSECS	PPP3CA	P4HTM
HP_ABNORMAL_GLIAL_CELL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GLIAL_CELL_MORPHOLOGY	PMS1	ZFTA	ERCC6	GDAP2	TSC1	FUS	KCNT1	NF1	GRN	SNCA	ERBB2	C9orf72	ETFA	BRCA2	APC	AVP	CNTN2	SETD2	MT-TT	NARS2	TSC2	CDKN1B	MSH2	GBA1	MAPT	VCP	MLH1	THOC2	NDUFS2	NDUFB8	NDUFS8	FAN1	SLC25A46	EIF2B3	EIF2B5	AKT3	ADAR	TLR3	GLUD2	ARX	NUP62	FBXO7	IFNG	KRAS	BCS1L	LRRK2	SERPINI1	SNCAIP	CDKN2B	POLG	LRPPRC	PMPCA	CDKN2A	KMT2C	HSD17B4	CHMP2B	LMNB1	NGLY1	LAMA2	YY1	ERCC8	TBCD	TBP	SCO2	ATXN3	EIF2B1	DYRK1A	PIK3CA	TFG	NF2	APC2	EIF2B4	ATXN2	ETFB	PLA2G6	BRAT1	TP53	ATP6V1A	SQSTM1	MOCS1	ZNF335	IDH1	MOCS2	CDKN2C	PLP1	RANBP2	PAX2	ATXN8OS	VPS35	ADH1C	STRADA	DTYMK	TSEN54	POT1	NBN	MSH3	SETBP1	L2HGDH	VRK1	DNAJC13	TARDBP	EIF2B2	NR4A2	NSD1	TMEM106B	PIGA	PDHA1	SURF1	GIGYF2	MDM2	MSH6	NDUFAF3	FARS2	EPCAM	RPS20	MTOR	SMO	PSEN1	EIF4G1	PRNP	LONP1	TGFBR2	SLC30A10	PRKN	PMS2	CYP27A1	MAN2B1	TBK1	CHEK2	ETFDH	CSF1R	BMPR1A	SEMA4A	RELA	MLH3	AP4M1	CDKN1A	MT-ATP6	AIFM1	MEN1	TREM2	TYROBP	CHCHD10	EHMT1	HTT	KDM3B	UBQLN2	IDH2	NAXD	COX15
HP_ABNORMAL_ASTROCYTE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ASTROCYTE_MORPHOLOGY	CDKN2A	APC	TSC1	SLC30A10	CHMP2B	GRN	NF1	CHEK2	LAMA2	STRADA	ERBB2	C9orf72	PMS2	ERCC8	BRCA2	POT1	TSC2	PRNP	SETD2	ERCC6	MSH3	MAPT	VCP	NF2	APC2	MLH1	MTOR	MT-ATP6	AIFM1	NSD1	TP53	TMEM106B	TREM2	IFNG	MSH6	SQSTM1	IDH1	ADAR	MDM2	NUP62	PSEN1	IDH2	POLG
HP_IMPULSIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPULSIVITY	SLC1A3	FGF8	ADAT3	PODXL	VPS35	DLL1	MAOA	KCNA2	SPTBN1	SCN8A	GLDC	EEF1A2	DNM1	NAA20	SNCA	HIVEP2	SRCAP	COQ5	PLA2G6	GABRA5	GABRB3	CACNA2D1	PTCHD1	NECAP1	CDK19	DEPDC5	GNB2	C19orf12	CACNA1B	SCN3A	H4C5	FGF13	MAPT	PRKN	PANK2	DNAJC13	ATP1A3	DALRD3	HTRA2	AFF2	DPYSL5	SYNGAP1	AP3B2	MAGEL2	CNKSR2	CREBBP	SCN9A	CEP152	FBXW11	DNMT1	DHDDS	WDR62	SIX3	NTRK2	SCN1A	TMEM240	GIGYF2	GABRG2	FGF12	IFNG	TSC1	ACTL6B	WWOX	STIL	LRRK2	AARS1	USP7	PHIP	TRAK1	PINK1	CDON	EIF4G1	VPS13C	TGIF1	SYNJ1	HCN1	ATP1A2	KCNB1	CLTC	SCN2A	VANGL1	POLA1	FUZ	EP300	CACNA1A	GRIK2	GCSH	FOXH1	GRIN2A	SLC38A3	KNL1	SUGCT	UBTF	YWHAG	PTCH1	PCDH19	LGI1	GRIN2D	NTRK1	TDGF1	TSC2	NODAL	PPP3CA	VPS16	ATP6V1A	SZT2	SLC13A5	DISP1	ARPC4	UCHL1	GABBR2	ARV1	CYFIP2	PARK7	GABRB2	GBA1	CELF2	UBA5	NUS1	PARS2	GLI2	SLC1A2	FZR1	RELN	BCORL1	DNAJC6	ZIC2	CDH2	KANSL1	SPEN	NONO	HEPHL1	GABRA1	GABRA2	AMT	SCN1B	GAS1	SHH	IL1RAPL1
HP_ABNORMAL_THORACIC_SPINE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_THORACIC_SPINE_MORPHOLOGY	EXTL3	SOX9	MYPN	TBX5	PCGF2	ERCC3	FLNB	MGAT2	ITCH	ALMS1	COL2A1	SPRTN	DES	LRP4	LMNA	POP1	VPS33A	FBXO28	TPM2	TRPV4	AEBP1	GNPTAB	PLOD1	AGRN	CHRNB1	GLB1	TARS1	FGFR3	FLI1	ERLIN1	PUF60	PEX5	DMD	SCN4A	ANKRD11	GNS	TMEM231	ZMPSTE24	IARS2	WDR81	NARS1	CARS1	NFIX	XYLT2	KIF22	SLC26A2	SRD5A3	VPS13B	AK9	GTF2H5	DYM	LHX3	MED12L	KY	MTRFR	CHRND	MUSK	RAB3GAP2	PYCR2	SGCA	ERCC2	MYH7	RNF113A	RBBP8	RAB5IF	CYP27A1	MOGS	CHRNA1	PHF8	MAN2B1	AIFM1	AP1G1	CHRNE	RMRP	HINT1	MPLKIP	CCN6	GDF3	NPR2	RAPSN	COL13A1	ALDH3A2	GTF2E2	LBR	NEPRO	GUSB	CDH11	TUBB3	PRKG2	SOX5	PIK3R2	DOK7	TRAPPC2	NEK9	TONSL	PIK3C2A	RYR1	NKX3-2	AMER1	TPM3	GBA1	SMARCAL1	SC5D
HP_ABNORMAL_LUMBAR_SPINE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LUMBAR_SPINE_MORPHOLOGY	EXTL3	GLB1	FLNB	MGAT2	FGFR3	NEPRO	COL2A1	GUSB	CDH11	GALNS	TRAPPC2	BMPER	MAN2B1	ERLIN2	NTRK1	CCN6	POP1	KIF22	VPS33A	SLC26A2	FBXO28	ATG7	AMER1	GNPTAB	RPS6KA3	NPR2	LHX3	POLR3GL	GBA1	SC5D	MED12L	LBR
HP_SELF_INJURIOUS_BEHAVIOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SELF_INJURIOUS_BEHAVIOR	BCOR	MGAT2	KAT5	ODC1	CLCN3	PAH	SPATA5	SNRPN	HECW2	DEAF1	ZBTB20	GLS	GRIA2	MKRN3	NAA10	CASZ1	TUBG1	GNAO1	SPEN	MBD5	GABBR2	HPRT1	SKI	SPOP	TMEM231	MAGEL2	DHCR7	HSPG2	CEP152	FBXW11	THOC2	TCF4	ADSL	GRIA3	ALG14	NDE1	WDR62	SLC25A22	SLC6A8	NALCN	SCN2A	ALDH5A1	IFNG	UNC80	LARP7	RAI1	VPS13A	GRIN1	PIDD1	MAPK1	DPAGT1	FAT4	SLC6A17	CREBBP	NRCAM	EEF1A2	KMT2C	TRIM8	RPS6KA3	CNTNAP2	GAMT	CEP104	NDP	NIPA1	TKT	AP1G1	RPL10	IQSEC2	VAMP2	PRDM16	PIGQ	LUZP1	PIGF	ARX	ATG7	TREX1	DMXL2	HTR2A	FLII	KIF5C	ASXL3	NAT8L	RNU7-1	TMCO1	UBE2A	SMARCC2	CHKA	TRIO	OPHN1	PDPN	NTRK1	NFIX	CHD7	HDC	SOX5	SMG8	ALG13	WAC	TAOK1	KCNAB2	GATAD2B	HERC2	FMR1	CDH2	CHD5	KARS1	NDN	SIK1	OCA2	CRBN	KCNA1	SVBP	KPTN	NPAP1	GJB2	MAOA	SCN1B	TMEM147	CDC42BPB	SNORD115-1	RERE	KMT2E	NIPBL	GABRD	PWRN1	DPYD	RTTN	GRM7	HDAC4	H4C5	SNORD116-1	PWAR1	PRKCZ	SLC1A4	CTNNB1	CAMK2G	ELP2	POGZ	SYT1	MADD	DNM1	INPP5E	CLCN4	AP1S2	DNM1L	NIPA2	CDKL5	KIF15	MYT1L	SLITRK1	SETBP1	TSC1	USP7	MMP23B	NEXMIF	HNRNPH2	SATB2	EP300	NDST1	GJA5	WASF1	DCHS1	CASK	UBE4B	SHANK3	RBL2	TSC2	ATRX	C12orf57	AUH	ATP6V0A1	GJA8	RLIM	OCRL	SLC6A4	PIGP	ABCA12	NTNG2	NEUROD2	FOXP1	WASHC4	CLTCL1	SHQ1	EHMT1	GRIA1	SIM1	ATP1A1	PNKP
HP_UTERINE_RUPTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UTERINE_RUPTURE	TGFBR1	NDP	COL3A1	TGFBR2	IPO8
HP_HYPOPLASIA_OF_THE_EAR_CARTILAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_EAR_CARTILAGE	DDR2	LAGE3	CD96	NUP107	TPRKB	OSGEP	WDR4	WDR73	TP53RK	NUP133
HP_MEDIASTINAL_LYMPHADENOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEDIASTINAL_LYMPHADENOPATHY	PIK3CG	BCL2	BCL6	BTNL2	RASGRP1	NCF1	BCL10	WT1	NCF2	HLA-DRB1	HLA-B	CYBC1	CYBA	APOE	PTPN22	IRF4	BIRC3	PRKCD	P4HA2	MALT1	CYBB	EWSR1	HLA-DPB1	EIF2AK4	FOXP1	TERT	NCF4	MAGT1
HP_GASTROINTESTINAL_STROMA_TUMOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROINTESTINAL_STROMA_TUMOR	PDGFRA	SDHB	SDHD	SDHA	NFKB2	TNFSF12	SDHC	KIT	ICOS	TNFRSF13C	IRF2BP2	NFKB1	CR2	CD19	PRKCD	TNFRSF13B	NF1	MS4A1	CD81
HP_HYPERCOAGULABILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERCOAGULABILITY	DLD	F5	ANK1	PROS1	F9	PROC	MYD88	SPTB	EPB42	GATA2	THBD	SLC4A1	HBB	HRG	SPTA1	AGGF1
HP_LICHENIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LICHENIFICATION	NTRK1	GJC2	CD28	OSMR	HLA-DRA	COL7A1	CSTA	CTLA4	FLT4	TNFRSF1B	CARD14	LBR
HP_GERM_CELL_NEOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GERM_CELL_NEOPLASIA	DMRT3	FGFR2	DHH	SETBP1	WT1	KIT	CHEK2	NR5A1	AR	TP53	SRY	ZFPM2	STK11	NR0B1	STS	MAP3K1	SETD2	MSH3	CTNNB1	CDKN1C	IGF2	FGFR3	VAMP7	APC2	DHX37	MNX1	RNF43	ERBB2	PAX6	CDH1	GATA4	NSD1	BCL10	PDE11A	PRKN	DICER1	PIK3CA	WWOX	MDM2	PRKAR1A	AKT1	KEAP1	SOX9	KCNQ1OT1	CDKN2A	KCNQ1	OPCML
HP_LARGE_FACE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_FACE	ADAT3	MAP3K20	MGP	KATNIP	MAN1B1	CHRNG	TP53RK	CPSF3	RAB39B	APC2	CLCN3	MMACHC	NSDHL	CPLANE1	DEAF1	NF1	ACTA1	KIAA0753	TPM2	TTN	KRAS	XRCC4	SETD2	EXTL3	PIGK	COL13A1	RECQL4	MTM1	MSTO1	AHI1	SGCG	INPP5E	PIBF1	SMAD2	TBX1	ARMC9	CCDC115	TCTN3	SIX1	FGF3	GP1BB	CBY1	AIP	TONSL	NEB	PHF8	LETM1	TBL1XR1	TET3	IDUA	NHS	CAMTA1	ERCC4	RREB1	KAT6A	NKAP	TMEM237	CEP57	ERCC8	PQBP1	POC1A	RAI1	SLC5A7	CSPP1	TAF1	CLCN4	DDX3X	TSPAN7	PMM2	OTUD6B	WNT7A	MAP2K2	BIN1	FLNA	CEP290	KBTBD13	NRCAM	TRAIP	GFPT1	DDR2	MEIS2	TOPORS	SLC2A10	STEEP1	MAPRE2	SMAD3	ASXL2	ZNF711	OFD1	SLC6A8	VAMP1	PAK1	DOCK3	RUSC2	NSUN2	CRKL	FBXO11	IQSEC2	TMEM67	HYLS1	TMEM218	SCUBE3	PURA	PPP2R5D	GRIN1	SIN3A	TCF20	APC	MYL2	ATG7	C12orf57	AGA	CC2D2A	FLII	ATAD3A	CHRNE	HNRNPK	MED12	BRAT1	PTCH1	UBE2A	HRAS	TGFB3	KIF7	MKS1	ARL13B	OPHN1	SATB2	CEP41	FBN1	NFIX	SNX14	TAB2	EBF3	SUFU	AP1S2	MYPN	EIF2S3	BCAS3	PDE4D	POU4F1	HACD1	FMR1	TPRKB	MOCS1	KANSL1	MOCS2	MID2	MAPK1	SPEN	ERCC6	MYO9A	TMEM231	SLC9A6	EYA1	MRAS	UBE3B	PDE6D	KLHL41	PTCH2	SYNGAP1	PCGF2	SLC9A7	SLC12A6	TMEM147	CDC42BPB	ALKBH8	SLC16A2	DHX30	ASPH	BCR	TMEM216	STRADA	SLC18A3	HIRA	NBAS	GALNT2	PCDHGC4	HDAC4	CHAMP1	BRAF	TOGARAM1	ATP7A	UPF3B	ALG12	B9D2	KCNK9	NSD1	SLC25A1	ZNF423	ARVCF	CHAT	PTEN	SMS	RPL10	CEP120	TTC5	RYR1	RAPSN	HERC1	SPEG	SETBP1	SRCAP	AKT1	BRWD3	B3GLCT	CRLF1	NFIB	SNAP25	SOST	SELENON	CEP104	SNAP29	PYROXD1	MAPK8IP3	CCDC174	PRKACB	TCTN1	COMT	ASXL1	RMRP	PRKACA	NPHP1	ANKRD11	CLCF1	ARL3	POLA1	PPP1R12A	STT3A	SEC24C	CHRNB1	TPM3	PBX1	TMEM138	RPGRIP1L	RIC1	AGRN	KMT2B	FLNB	BCOR	TTC26	HUWE1	TCTN2	SOX6	ERCC1	ITGA7	COL3A1	PIGU	PEX13	TLK2	OCRL	NFIA	MYH7	JMJD1C	PRDX1	NONO	MYH3	MAP2K1	HNRNPH1	SYT2	FAM149B1	GPR101	SYNE1	KIAA0586	BCORL1	B9D1	UFD1
HP_PANCREATIC_FIBROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATIC_FIBROSIS	DYNC2I1	CSPP1	TCTN2	NEK1	TMEM67	CC2D2A	MKS1	TCTN3	TMEM107	PTRH2	TMEM237	TCTN1	TMEM216	RPGRIP1	CEP290	SLC37A4	NPHP3	TXNDC15	TMEM231	B9D1	RPGRIP1L	B9D2
HP_NEOPLASM_OF_THE_PARATHYROID_GLAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_PARATHYROID_GLAND	RET	CDC73	MEN1	CLCNKB	NF1	GCM2	CDKN1B	FLCN	TSC2	IFNG	TSC1	IDH1	CASR	CDKN2C	CDKN2B	IDH2	CDKN1A	SLC12A3
HP_HYPERTENSIVE_CRISIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTENSIVE_CRISIS	IRF5	HIRA	TBX1	HLA-DRB1	IL12B	SEC24C	GP1BB	MLX	CAV1	CCR6	ARVCF	MYMK	TLR7	JMJD1C	CCN2	COMT	UFD1	MYMX	HLA-B	RREB1
HP_ABNORMAL_SOFT_PALATE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SOFT_PALATE_MORPHOLOGY	HYAL1	NEK1	ZIC2	SEMA3E	FANCB	STIL	COL2A1	HAAO	PLCH1	UBE2T	ARHGAP29	BGN	FGFR2	TP63	GRHL3	TGIF1	RTL1	FLNA	DDX59	IPO8	RPS26	PIGY	BMP4	RNU4ATAC	NODAL	ORC1	TTN	CRPPA	PTCH1	TGFBR1	RPS24	AMMECR1	PIGV	GATA1	IFT140	FKRP	PGAP1	CDT1	TDGF1	SIX3	TUBB6	SIX1	ORC6	RPS27	TCTN3	GLI3	ADA2	TWIST2	SLC39A13	KCNN3	RPS28	ZEB2	TGFBR2	SHMT2	IRF6	B4GALT7	TMEM231	PDGFRA	POMK	DLL1	ALG3	COL11A2	SMPD4	FOXH1	CHD4	RAI1	RPL15	DGCR6	DDX3X	DAG1	GAS1	FGF8	MYL11	RPL11	ORC4	PALB2	SHH	BIN1	RPS29	POLR3A	CDC6	POMT1	SATB2	SMAD3	BRCA2	RPL27	RPL35A	KMT2C	B9D2	PIEZO2	FGFR3	DHCR7	FBXO11	POMT2	TCOF1	TBX1	FGF10	COL11A1	SERPING1	TGFB2	CDH1	HYLS1	DYRK1A	RAD51C	TXNL4A	LARGE1	FANCD2	RPS10	HNRNPK	RECQL4	KAT6B	SKIC3	SMAD4	RPL5	MYMX	IGBP1	TGFB3	POMGNT1	CDH11	MAD2L2	DISP1	DLK1	MED12	FANCA	KIF7	COL4A1	FANCI	SMARCD1	NECTIN1	CDON	GLI2	POMGNT2	SIAH1	MSX1	BRIP1	SUPT16H	GMNN	THOC6	BICRA	PI4KA	RPL18	DHCR24	RFWD3	XRCC2	EYA1	RPL31	SEC23A	ROR2	RXYLT1	PPP1CB	FTO	STAC3	FKBP14	FGFR1	ESS2	DGCR2	SPTBN1	UBB	DLG3	ASPH	SNRPN	GNAI3	CHD7	GNB2	RPL26	H4C5	STAG2	EIF4A3	AEBP1	ATP6V1B2	SETD5	MEG3	KCNH1	B3GALNT2	BRCA1	KCNK9	TSR2	DGCR8	METTL23	KIF14	FANCF	SPEG	EDN1	RPS19	RAD21	TBCE	PGAP2	SELENOI	SF3B4	WDR35	SMCHD1	TWIST1	RPS15A	FKTN	RPS20	POLA1	RPS23	SON	GJA5	B4GAT1	FANCM	DVL1	SLX4	BCOR	RYR1	XYLT1	PIGW	CDC45	ERCC4	FANCL	MAP3K7	RPS17	PGAP3	SMC1A	MSX2	PLCB4	SCNM1	TBX22	GJA8	PIGO	RLIM	USP9X	PRR12	RPL35	ZPR1	PGM1	FANCE	FANCG	PTDSS1	SNRPB	CUL3	DLX4	ALG9	POGZ	NXN	RPS7	SLC25A19	AMER1	SMS	NONO	RAD51	FANCC	DLG1	PIGL
HP_ABNORMAL_HARD_PALATE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HARD_PALATE_MORPHOLOGY	PRKAR1A	GLI2	LRP5	NEK1	SNRPB	PRR12	DVL1	EIF4A3	TP63	SHH	WNT5A	AMMECR1	PDE11A	ZBTB20	NUAK2	ZEB2
HP_ABNORMAL_EATING_BEHAVIOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EATING_BEHAVIOR	UBE3A	NPAP1	SYNGAP1	MN1	GNAS	ALMS1	KCNJ11	SNORD115-1	KCNJ10	SNRPN	MC4R	RERE	HTT	SLC12A3	GABRD	MKRN3	PDSS1	PWRN1	ZNF699	CASZ1	SLC18A3	DPYD	IL6	BSCL2	SMARCB1	MEIS2	SNORD116-1	GRN	PWAR1	COL13A1	PRKCZ	SPEN	SLC5A2	ELP2	MBD5	SOX4	PSEN1	SKI	MAGEL2	POMC	HSPG2	PACS1	SETD2	CLCNKB	SLC25A1	GRB10	SMARCA4	CHAT	ADCY3	MEN1	ASH1L	UCP2	PTPN22	MYT1L	LARP7	SLC5A7	SNAP25	CDK13	MMP23B	HNF1A	NTRK2	NEXMIF	ARID1B	SLC7A7	SLC3A1	SIM1	OCA2	ARID2	IFT74	SATB2	AGPAT2	VAMP1	ABCC8	GPR101	PCDH19	AGRN	UBE4B	MAPT	PREPL	NKX2-1	LEPR	CTNNB1	PRDM16	CACNA1A	LUZP1	NDN	BRAF	SLC2A3	DHPS	MAN1B1	DPF2	YY1	SMARCE1	SOX11	ARID1A	SLC25A13	BBS9	EZH2	PDPN	CHD8	ATP10A	KCNAB2	PCSK1	SYT2	LEP	ITPR3	HERC2	SMARCC2	SCN4A	ACAT1	SH2B1	ZSWIM6	ADNP	MYO9A	PLA2G6	SMARCD1
HP_BULIMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BULIMIA	MAGEL2	NDN	SNRPN	NEXMIF	OCA2	PDSS1
HP_VASCULAR_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VASCULAR_NEOPLASM	RASA1	SDHB	MGAT2	TGIF1	TSC1	MTMR14	SDHD	HS2ST1	NF1	VHL	FLT4	SUFU	NOTCH1	IDH1	FBXO28	SEC23B	KRAS	SETD2	EXTL3	FGFR2	GNPTAB	CTBP1	MAX	DVL3	RET	FZD2	TSC2	JAK2	NSD2	CYP26C1	DHCR7	ARID1B	MTOR	GFI1	ATP2B1	GLI3	WNT5A	FGFRL1	DISP1	SLC26A2	FH	GDF2	SHOC2	PIK3CA	NODAL	TCIRG1	CPLX1	SMAD4	IFNG	SRD5A3	DPM1	MAP2K2	ACVRL1	PDCD10	CREBBP	SEC23A	NDP	LETM1	ANTXR1	KDR	CD96	CCM2	RECQL4	APC2	KRIT1	CCND1	RRAS2	KIF1B	SHH	PTH1R	TET2	PIGG	CTSA	PTCH1	ATP6V1B2	GNA14	EPHB4	MPL	SPEN	PTEN	SDHA	BIN1	GPC6	NELFA	DLL1	KDM6B	FGF8	EIF2AK4	TEK	PPP1CB	STAC3	ELANE	GNA11	TBC1D24	ESCO2	DVL1	TBX2	SETBP1	TFAP2A	CLPB	BMPR1A	USF3	TMEM127	RYR1	MDH2	H4C5	BRAF	FGFR1	ZIC2	RBM8A	GLI2	POR	NSD1	WASHC5	PUF60	SDHC	SLC25A11	AGGF1	SIX3	GNAQ	AKT1	SRP54	ASXL1	ARL6IP6	CCDC22	EP300	NRAS	CALR	TDGF1	MYF6	KANSL1	FOXH1	MSL3	HRAS	LEMD3	CDON	DNM2	ENG	GAS1	MAP2K1	OFD1	DIS3L2	KLLN	HOXD13	IDH2	DLST	SDHAF2
HP_NEOPLASM_OF_THE_RECTUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_RECTUM	PMS1	SDHB	TGFBR2	SDHA	MUTYH	PMS2	SDHD	POLE	MLH1	SMAD4	CHEK2	USF3	PTEN	PDGFRA	APC	BMPR1A	SEMA4A	MSH3	AKT1	MLH3	AXIN2	PIK3CA	SEC23B	RNF43	POLD1	MSH2	STK11	SDHC	FAN1	PDE11A	DICER1	TP53	MSH6	KIT	MDM2	PRKAR1A	NTHL1	KEAP1	KLLN	EPCAM	RPS20	KRAS	CDKN2A	GREM1	ENG
HP_ABNORMALITY_OF_THE_HUMERORADIAL_JOINT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_HUMERORADIAL_JOINT	CREBBP	EXTL3	SOX9	NOG	EP300	DVL1	CYP26B1	CLCN3	WNT7A	BMP1	SHOX	CHRNG	FZD2	COL5A2	B3GALT6	AFF3	NIPBL	SRCAP	PTDSS1	FLNA	EXOC6B	CDC45	MAP3K7	COL27A1	GSC	PRKAR1A	POR	CD96	TBX15	ARID1B	FGFR2	IFITM5	GDF5	DONSON	WNT5A	CHST3	SLC39A13	SCARF2	ATR	B3GAT3	B4GALT7	COL1A1	SKI	COL5A1	LMX1B	FGF9	GPC6	KIF22	FGFR1	ASXL1	NOTCH2	ROR2	ERCC1	RNU4ATAC
HP_CHEST_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHEST_PAIN	CDH2	HLA-DQA1	SDHB	WIPF1	GNAS	BAP1	STAT4	APC	FOXE3	VHL	SCNN1G	TNNC1	EXT2	MYLK	HLA-DQB1	TMEM127	PRKAR1A	DSG2	DPM3	MDH2	IL12B	HBB	DNMT3A	TP53	MLX	COL3A1	TGFB2	TSC1	THPO	RET	TSC2	ACTA2	STX16	TET2	SCN4A	CALR	HLA-DRB1	MAT2A	FH	SDHC	SLC25A11	NOD2	EPAS1	HLA-B	FBN1	DBH	COL4A6	KIF1B	IRF4	MEF2A	MAX	MYL2	MEFV	PPOX	MPL	PNPLA2	MYH11	JAK2	ACTC1	SMAD4	SLC34A2	CTLA4	NOS1	MYBPC3	TGFB3	WWOX	ADAMTS19	BTNL2	PRKAG2	LOX	PRTN3	IRAK1	CTNNB1	PIGA	RNF6	DLEC1	TGFBR1	CRLF1	TMEM43	MT-TK	HLA-DPB1	SCNN1A	SCNN1B	MFAP5	SPP1	PLN	EXT1	WAS	HEY2	CFTR	NF1	PRKG1	SDHD	TGFBR2	SMAD2	SH2B3	HLA-DPA1	RASA1	TNFRSF1A	MYH7	CAV3	COL4A5	PTPN22	SDHA	ELN	ENG	DLST	SDHAF2	SMAD3
HP_ATELECTASIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATELECTASIS	DNAH9	ZMYND10	RIPK4	SPAG1	DNAJB13	SEC24C	TTC12	DNAAF11	LRRC56	STAT3	RPGR	LAMA2	LTBP4	DNAI1	GAS8	DNAH11	ABCA3	CFAP221	DNAAF4	OFD1	RSPH4A	B3GALT6	RSPH3	HIRA	NEK10	TBX1	PLEC	DNAL1	HYDIN	STK36	SPEF2	CFAP298	TSC1	ODAD4	RSPH1	DRC1	PAX3	TSC2	CFAP300	CCDC103	OCRL	CYBB	MCIDAS	CCNO	RSPH9	GP1BB	ARVCF	GAS2L2	DNAAF2	CCDC65	TP73	DNAAF3	JMJD1C	DNAAF6	CXCR4	DNAAF5	RREB1	DNAAF1	ODAD3	NHLRC2	SFTPB	FOXJ1	SFTPC	CCDC40	NME8	NKX2-1	CCDC39	ASAH1	COMT	ODAD1	UFD1	ODAD2	DNAI2	DNAH1	DNAH5
HP_ESOPHAGEAL_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ESOPHAGEAL_NEOPLASM	TOM1	SDHB	WWOX	RAD21	RHBDF2	TGFBR2	SDHA	ASCC1	STK11	SDHC	RNF6	PDE11A	STAT1	KIT	AAGAB	DLEC1	FH	COL4A6	PRKAR1A	MSR1	COL4A5	PDGFRA	CTHRC1	APC	COL14A1	BLM	DCC	LZTS1	MYH11
HP_SCHIZOPHRENIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCHIZOPHRENIA	MTHFR	ADGRV1	AMACR	ZDHHC9	VPS35	SEC24C	MT-TS2	GJA5	WHRN	PCDH15	CDH23	APOL2	DAOA	NIPA1	ZBTB20	USH1C	SNCA	FLI1	CHRNA7	NKX2-1	HIRA	ARSA	TBX1	TUBG1	DRD3	ATG7	HARS1	CAT	CEP78	MYO7A	MSTO1	PSAP	DNAJC13	KRT86	GJA8	UPF3B	USH2A	KRT83	ARSG	CHI3L1	DSG4	PRODH	GP1BB	ARVCF	CLRN1	DNMT3A	ESPN	JMJD1C	HTR2A	GBA1	RBM12	SETD1A	NIPA2	GIGYF2	RTN4R	RREB1	KRT81	MED12	USH1G	COMT	PDZD7	LRRK2	SHANK3	SYN2	EIF4G1	CIB2	MT-TE	UFD1	ATP2A2	APOL4	FTSJ1
HP_MANIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MANIA	MT-ND4	MT-ND5	SEC24C	SLC25A4	GRIA1	PDGFRB	PRKACA	FLI1	MT-CO2	CHRNA7	HIRA	TBX1	PDE8B	FA2H	VPS16	MT-CO1	MECP2	MT-TF	RRM2B	MT-ND6	PRKAR1A	SLC25A13	PDE11A	MT-TH	SMPD1	ARMC5	GP1BB	MT-TL1	ARVCF	DNMT3A	CLCN4	CEP85L	JMJD1C	POLG2	RPS6KA3	RREB1	MT-TS2	TWNK	GNAS	MT-CO3	MT-TW	POLG	COMT	TBCK	MT-TQ	UFD1	PRNP	ATP2A2	MT-ND1
HP_ABNORMALITY_OF_SALIVATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SALIVATION	UBE3A	CHRM3	PRPS1	MATR3	SPART	NEK1	LMNB2	GPT2	SNRPN	HIVEP2	TBK1	UNC13A	ATXN2	FUS	FOXG1	MEG3	FBXO28	EXTL3	PPARGC1A	PRPH	MBD5	GABBR2	SATB1	MAGEL2	SLC12A2	SCN9A	SH3TC2	PDE10A	MECP2	PAK3	GNS	SHMT2	ATP7B	PI4KA	TREM2	SMARCA2	PMP22	GABRG2	EDARADD	VPS13A	DLAT	GLE1	SYNGAP1	GFM2	ELOVL1	ZEB2	SATB2	GRIN2A	ERBB4	HLA-B	TP63	FGFR3	CLDN10	POLR3B	POU3F3	PCDH19	PON2	CFAP410	ZC4H2	FGF10	SERPING1	SRPX2	NALCN	CHCHD10	TH	IKZF1	HDAC4	MED27	SLC1A4	ATP10A	ANXA11	ATP6AP2	GLT8D1	EIF2S3	MED12	SLC25A12	QDPR	PON3	NEFH	MRE11	TAF15	TUBB2B	SPEN	GSN	SLC12A5	SLC9A6	SCN1B	CHMP2B	VAC14	ZBTB11	NOD2	PCGF2	TANGO2	ADGRG1	SPTBN1	CAMTA1	ATP1A3	KIF7	CCN2	NAA20	VAPB	PFN1	ANG	AP4B1	CACNA1I	AP4E1	FIG4	POLR3A	CHAMP1	CAV1	AP4M1	DLK1	TASP1	TARDBP	VCP	CCR6	DNM1L	SCN1A	UBQLN2	FGFR2	SETD5	LBR	HERC1	IRF5	KIF15	NFIX	ATRX	PTS	SQSTM1	TBX1	CERT1	NEXMIF	ALS2	PON1	HNRNPH2	RSRC1	SCN2A	OPTN	CLDN11	GRIK2	CCNF	SLC16A2	STRADA	DCTN1	FBLN1	KCNC2	OCA2	SOD1	GCH1	HLA-DRB1	NRXN1	HPDL	RTL1	ARX	DAO	NTNG2	TSPOAP1	FOXP1	FOXP2	DEAF1	AP4S1	C9orf72	BCORL1	HNRNPA1	NONO	SIM1	GABRA1	PLA2G6	NAXD	EPHA4
HP_GANGRENE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GANGRENE	PML	CD28	IRF2BP2	ABCC6	CYP4F22	PRTN3	CTLA4	FIP1L1	IL10	CCR1	NABP1	ZBTB16	HLA-B	IFNGR1	TLR4	IL12B	HLA-DPB1	MLX	CAT	C4A	KIF11	TNFRSF1B	KLRC4	IL12A	SULT2B1	STAT4	STAT5B	IL23R	MEFV	HLA-DPA1	ABCA12	TGM1	NPM1	STAT3	HLA-DRB1	RARA	ALOX12B	UBAC2	PROS1	NUMA1	PROC	PTPN22	P4HA2	BCOR	ALOXE3	AGXT	TBL1XR1	IL12A-AS1	ASPRV1	SDR9C7	NIPAL4	LIPN	PRKAR1A	ENPP1	FAS	ERAP1
HP_CLUBBING_OF_FINGERS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLUBBING_OF_FINGERS	SFTPC	NCKAP1L	STN1	TERT	CFTR	RASGRP1	HSPG2	FAM13A	LRBA	SFTPA2	TERC	ATP11A	PTH1R	CD55	RTEL1	PSMB8	BMPR1A	HPGD	STK11	INTU	HNRNPH1	TGFB1	PTEN	JAG1	TLL1	GJB6	MUC5B	NLRP3	PARN	SFTPA1	EIF2AK4	SLC5A6	SLC34A2	DSP	DPP9	SLCO2A1	FCGR2A	IL21	ABCA3
HP_CLUBBING_OF_TOES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLUBBING_OF_TOES	BRCA1	BRCA2	RHBDF2	FANCB	SMARCA2	HPGD	MAD2L2	FANCA	UBE2T	UBE2A	FANCM	FANCI	FANCE	FANCF	SLX4	FANCG	HNRNPH1	TLL1	BRIP1	ERCC4	FANCL	SLCO2A1	PIGL	RAD51	RFWD3	RAD51C	XRCC2	PALB2	FANCC	FANCD2
HP_VISCERAL_ANGIOMATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VISCERAL_ANGIOMATOSIS	PIK3CA	AKT1	IDH1	GNAQ	SMAD4	FGFR2	FGFR1	IDH2	PTEN	KRAS	PTH1R	ENG	GDF2	SLC26A2	ACVRL1	TEK
HP_ABNORMALITY_OF_THE_LYMPHATIC_SYSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_LYMPHATIC_SYSTEM	FOXP3	SLC4A1	NLRP3	ARSB	YARS1	TRNT1	BAP1	B2M	BRCA1	RPGRIP1	GPC4	LBR	USP53	LIPA	LTBP4	GNE	HBA1	ZNF699	HYLS1	B9D2	RSPH3	RNASEH2C	MINPP1	GPI	FAT4	TERT	ADAMTS3	RMRP	ADAR	HFE	GNPTAB	POMP	FCHO1	CDKN1B	AP3D1	TP53	THPO	IFIH1	NPC2	TCIRG1	CR2	ASXL1	JAK2	CCDC115	GP1BA	STEAP3	NAGLU	RASGRP1	GP1BB	TBXAS1	IL1RN	RAC2	PTPN11	ZIC3	ZEB2	ATP7B	SLC39A4	APOA1	IDH1	NFKB1	RINT1	HBG2	BCR	VPS33A	HAVCR2	STIM1	RNASEH2B	DNAH1	MITF	MAGT1	CREBBP	ABCB11	CFC1	DDRGK1	HSD17B4	LRBA	SLC25A13	GBA1	LYZ	CFAP410	PIEZO1	DNAI1	CFAP221	PTPN2	NEK8	ERCC8	MKS1	NLRP12	NPHP3	XIAP	GINS1	FOXP1	RNU7-1	COG1	MCIDAS	KCNN4	OTC	GAS2L2	CHD7	ACP5	HBB	CTNNBL1	TRIP13	NEK9	MPI	SGSH	IL2RA	MMUT	BRCA2	HLA-DRB1	DCDC2	USB1	MPL	DHCR24	CD19	ATRX	IL12A-AS1	CAVIN1	MAP2K2	MAN2B1	JAK3	IGKC	PIK3CD	SOX10	CASP10	LETM1	MYCN	TNFSF11	FAH	PKLR	FOXF1	PAK2	PTPRC	GABRD	NCF1	PIK3CA	ADA	OFD1	RAG1	POLR1D	CDKN2A	TCTN3	TCOF1	FUCA1	MPIG6B	KRAS	EIF2AK4	ATP6V1B2	NBEAL2	PKHD1	WT1	SAMD9	RHCE	COX10	CFTR	ZAP70	STAT3	TSC2	GPC3	CSF3R	CCDC32	DNAAF1	SCNN1B	MPEG1	TRIM28	SP110	LSM11	UMPS	TBX1	IDUA	TRAC	TLR8	HEXB	RFWD3	SLC7A7	TNFRSF11A	COG7	CARD9	HBA2	BMP2	BTK	CCND1	NCKAP1L	DGUOK	BTNL2	SEC24C	LZTR1	NOTCH2	WDR1	RPGRIP1L	MOGS	MICU1	PRKCD	SMPD1	RPGR	DAXX	NDE1	GLB1	CD28	NLRC4	SNX10	SH2D1A	FERMT3	KLRC4	AIRE	KLF1	TCF3	CCDC103	PSAP	SDHD	PHKG2	ANK1	CCNO	KCNH1	JAK1	MYD88	PIGM	CASR	FGFR2	APOE	NUMA1	PEPD	FLT4	HK1	CCDC39	FAS	GPIHBP1	NCF4	STRA6	DNASE1L3	UNC13D	PLXND1	DNAJB13	EPB41	HMOX1	TSC1	GATA2	IL10	STAT1	PEX7	RPSA	IRF8	TGFB1	POLR1C	TCTN2	HABP2	MEG3	MALT1	MVK	ERCC6	CTBP1	RRAS2	INPP5E	SPTA1	IL6	STAT4	DCLRE1C	H19	NDUFS4	FGFRL1	LMNA	PLEKHM1	EPB42	CPOX	CCDC47	RAG2	TNFRSF13B	TNFRSF1A	G6PC3	TNFRSF1B	OSTM1	PHKA2	MRAS	IRF4	UROS	GLIS3	IFNG	FOXJ1	NME8	TPP2	SNX14	AP3B1	PRKAR1A	ODAD2	ERAP1	DLL4	STX11	RAB23	SOX18	GPR35	HSD3B7	RAB27A	IDS	RORC	LAT	DNAH11	NF1	ICOS	DIS3L2	RSPH4A	NEK10	IFNGR1	HYDIN	NCF2	FAM111A	SPEF2	PPARG	NKX2-6	TMEM216	FGA	SPP1	CARD11	FASLG	RABL3	ABCB4	INPPL1	CYP7B1	IFT172	DNAAF2	MED12	RASA1	RARA	RNU4ATAC	SAMD9L	B9D1	MNS1	NEU1	TTC7A	CDKN2C	GSN	HGSNAT	TMEM67	MYO5A	ASAH1	REST	LPIN2	TULP3	PSMB10	TBX2	GAA	PALB2	B4GALT1	ANTXR2	RNASEH2A	NABP1	KPTN	HIRA	SLC29A3	SEC23B	G6PD	RHAG	PRKCZ	C4A	DZIP1L	ABCA1	SERPINA1	TET2	DLK1	SKIC2	CYBB	IL23R	BCL11A	ISG15	ARVCF	FOCAD	MEFV	PTEN	ALG9	NPM1	PALLD	BIRC3	TNFRSF4	RAF1	RELN	CTLA4	TYMS	DPM1	MC1R	DNAH9	GCLC	KATNB1	NFKB2	AGPAT2	DNAAF11	CD27	RNF168	ABCD3	SCNN1A	CAV1	UBE4B	DLEC1	TTC26	ORAI1	LEMD3	CDK4	DEF6	SH3BP2	PPP2R3C	ZNFX1	CBL	ADA2	DNASE2	SAMHD1	ARPC1B	WDR35	ALAS2	CD81	GPD1	RIPK1	CD40LG	SLC2A1	JMJD1C	CXCR4	POT1	CC2D2A	TNFSF12	SPTB	CALR	TBL1XR1	CDIN1	SH2B3	ODAD1	SC5D	GUSB	IRF2BP2	WIPF1	CTSK	IL12RB1	FIP1L1	EPHB4	FOXE1	CASZ1	PRF1	NOTCH1	MEGF8	TLR4	CYBC1	STK36	AKR1D1	IFT140	IL7R	NSMCE3	CFAP300	CTNS	PIK3R1	STAT5B	HSPG2	GALE	CCDC65	TERF2IP	RREB1	PARN	MMP21	IKZF3	RRAS	CLCN7	COX4I2	CD247	RIT1	PNPLA2	TCTN1	FCGR2A	DNAH5	VANGL2	SPAG1	SOCS1	TP63	CEP290	ZFYVE19	XK	SCYL1	ERBB3	PRDM16	AGA	HRAS	CTC1	WAS	SKIC3	POLR3A	CA2	GATA1	PDPN	TGFBR2	PTH1R	FARSA	LACC1	DNAAF5	SCARB2	SLC37A4	CD3D	BCOR	XRCC4	PML	PHYH	CPLX1	AICDA	BMP6	F5	STXBP2	UROD	FGG	LYST	GAS8	NRAS	GNB2	HLA-B	WRAP53	CASP8	SRSF2	NSD2	EXOC2	BCL6	MYC	VPS45	PIGA	COG4	CENPF	TCF4	ODAD3	PTPN22	ITK	MMP23B	BLM	COMT	HJV	DNAI2	RARB	GIMAP5	AKT1	AK2	ATP6AP1	EP300	TTC12	SLC30A10	KIF3B	IRAK1	ATM	SCNN1G	CLPB	ATP8B1	MCM10	ABL1	CDKN1A	GYPC	GDF1	MEN1	AKT2	BTD	DNAAF6	KCNN3	SMAD2	P4HA2	TRPV6	SOS1	ABCG8	HLA-DPB1	RSPRY1	CD70	TERC	PNP	IL2RG	RHD	ITCH	IARS1	SF3B1	KIT	COG5	TXNDC15	CD40	MYO5B	DNAAF4	CCBE1	TMEM107	SLCO2A1	SPEN	ODAD4	SKI	WNT3	PI4KA	MYRF	HPGD	SUMF1	NHP2	CFAP45	OCLN	AFF4	GNS	NOP10	CYBA	APOC2	PSMB9	TINF2	CDKN2B	PDGFRA	RTEL1	CD3E	VPS13A	ACD	ALPK1	MTHFR	CDC42	WWOX	ACVR2B	STING1	NGLY1	ANKRD55	DHCR7	PSMB8	SYK	BACH2	LUZP1	TALDO1	CFAP298	TREX1	TMEM237	TNFRSF13C	RSPH1	RBCK1	POU6F2	GEMIN4	IL2RB	RSPH9	GALK1	CTSA	KCNAB2	MCM4	TFE3	FGB	PSMG2	TFAP2A	PEX2	PHKB	EPG5	STAT2	SLC17A5	NOD2	ZMYND10	PIK3CG	CSPP1	BCL2	ESCO2	ALMS1	SETBP1	HAMP	RERE	LRRC56	OAS1	ZBTB16	COL18A1	BSCL2	LIG4	DNAL1	HMGA2	FMO3	IL12A	MGMT	RBM8A	SOS2	ALDOA	DKC1	CDAN1	TPI1	CDON	DNAAF3	ALG14	SPRED2	NLRP1	ZBTB7A	PRIM1	PSTPIP1	ELANE	COG6	UNG	POLR1B	NHLRC2	IL6ST	HBG1	CCDC40	RASA2	RUNX1	TWIST1	TMEM231	CASK	FRAS1	DYNC2LI1	MST1	GLRX5	SMAD4	RNF6	CLDN1	CCR1	C3	GBE1	NPC1	PEX5	PSMB4	ALG1	OTULIN	LCAT	RTL1	MIF	MS4A1	IGHG2	TOM1	LPL	SEMA4D	BCL10	VPS33B	BRAF	UBAC2	PIK3C2A	CELSR1	IKBKG	IDH2	DRC1	EWSR1	NODAL	UFD1
HP_LYMPHANGIOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LYMPHANGIOMA	COL18A1	AKT1	IDH1	CCBE1	ADAMTS3	FAT4	IDH2	PTEN	PTH1R	PAK2
HP_ABNORMALITY_OF_THE_TONSILS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_TONSILS	IDUA	IGKC	PIK3R1	RIPK1	DCLRE1C	CD40LG	ABCA1	SEC24C	GP1BB	ARVCF	IL2RA	IL2RG	AKT2	JMJD1C	SCNN1G	IDS	C3	ZBTB7A	SCNN1A	RREB1	ADA	ELANE	HIRA	SCNN1B	MPEG1	TBX1	BTK	CYBC1	MYO5A	CA2	BLM	COMT	RSPRY1	UFD1	IGHG2
HP_ABNORMAL_LYMPHATIC_VESSEL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LYMPHATIC_VESSEL_MORPHOLOGY	SOX18	CELSR1	TSC2	FAT4	IFNG	FLT4	CCBE1	TSC1	ADAMTS3	FOXF1	RASA1	PIEZO1	HRAS	MPI
HP_ABNORMAL_PLACENTA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PLACENTA_MORPHOLOGY	CDKN1C	CORIN	HSPG2	SPTBN1	PLAGL1	KIT	LBR	CHEK2	LMNA	HMGA2	TP53	MEG3	RTL1	MKS1	STK11	PLAG1	DLK1	GLB1	IGF1	CFH	FLT1	FGFR3	STOX1	SKIC3	HYMAI	IGF2	FANCF	CD46	MUSK	CFI	BCL10	HELLPAR	ZMPSTE24	MDM2	PHGDH	KCNQ1OT1	CDKN2A	KCNQ1
HP_CHORIOCARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHORIOCARCINOMA	TP53	BCL10	CDKN2A	KIT	CHEK2	FGFR3	STK11	MDM2
HP_SYNOVITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNOVITIS	MAP2K1	NOD2	POLR3A	PTPN2	HYAL1	IL2RA	IL2RB	BRAF	F8	PTPN11	PTPN22	STAT4	ANKRD55	LPIN2	CD247
HP_HYPEROSTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPEROSTOSIS	GJA1	IDUA	AKT1	WIPF1	ALMS1	ERCC4	VCP	RPS6KA3	SLC39A14	PTEN	COL1A1	LEMD3	PHEX	GNAS	TBXAS1	LRP5	DDB2	KRAS	SOST	PIK3CA	PRKAR1A	MAP2K1	ANKH	GALNT3	HNRNPA2B1	XPC	SLCO2A1	WAS	XPA	SMAD4	ERCC2	GNAQ	TGFB1	CA2	THOC2	NOTCH3	FLNA	FGFR1	LRP4	TNFRSF11A	OSTM1	HNRNPA1	PTDSS1	TNFSF11	COX4I2	SLC29A3	TCIRG1	B3GALT6	ERCC5	ERCC3	AMER1	MAN2B1	TNFRSF11B
HP_RECURRENT_PHARYNGITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_PHARYNGITIS	XIAP	SH2D1A	PTPN22	HLA-DRB1	P4HA2	SLC29A3	TNFRSF1A	ALG12	HLA-B	NFKB2
HP_EXOSTOSES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXOSTOSES	AKT1	PHF21A	MSX2	CHRNG	TRPS1	PTEN	EXT2	SHOX	COL11A2	PTPN11	EXT1	COL2A1	ATP7A	ALX4	IPO8	ACAN	RAD21	IDH1	IDH2
HP_UROGENITAL_SINUS_ANOMALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UROGENITAL_SINUS_ANOMALY	CYP11A1	NR2F2	DMRT3	MKKS	PPP1R12A	GATA4	SRY	NR5A1	WWOX	SRD5A2	WT1	ZFPM2	SOX9	NR0B1	CHRM3	AR	DHX37	VAMP7	MAP3K1
HP_CONJUNCTIVAL_HAMARTOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONJUNCTIVAL_HAMARTOMA	PTEN	SDHD	KRT10	SDHB	AKT1	KRT1	SDHC	KLLN	PIK3CA	USF3	SEC23B
HP_ABNORMAL_SACROILIAC_JOINT_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SACROILIAC_JOINT_MORPHOLOGY	TWIST2	FGFR3	ENPP1	PHEX	TNFRSF1A	HLA-B	DMP1
HP_BREAST_APLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BREAST_APLASIA	CDC6	KCTD1	ORC6	CDC45	ORC1	IKBKG	GMNN	TWIST2	PLXND1	TP63	ESR1	DYRK1A	ORC4	REV3L	TBX3	CDT1	LMNA	MTX2
HP_PERIPHERAL_ARTERIOVENOUS_FISTULA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_ARTERIOVENOUS_FISTULA	RASA1	ENG	GDF2	COL3A1	EPHB4	SMAD4	AGGF1	ACVRL1
HP_INSOMNIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INSOMNIA	DNAJC30	PODXL	NAGS	BCL7B	MLXIPL	VPS37D	HMBS	NCF1	HTT	HLA-DQB1	EIF4H	KMT5B	GALNT2	SNCA	NR1H4	GTF2IRD2	PRNP	LIMK1	FARS2	CRY1	DCTN1	SLC2A3	FKBP6	HLA-DRB1	PRKN	METTL27	YY1	RFC2	HTRA2	UCHL1	SATB1	TBL2	TMEM270	SLC25A13	CLCNKB	PRR12	TUBB3	ABCB4	GTF2I	PARK7	HEXB	ATP8B1	LRRK2	CPOX	STUB1	GTF2IRD1	MEN1	GNS	ZNF365	ATP7B	KAT6A	BUD23	CLIP2	DNAJC6	PINK1	HCRT	VPS13C	SYNJ1	STX1A	BAZ1B	ELN	PDE2A	ABCB11	SLC12A3
HP_HYPERSOMNIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERSOMNIA	SLC26A4	TSHR	GPR101	PRNP	FOXE1	PRR12	TDP2	NKX2-5	NKX2-1	PAX8	AIP	HEXB	DUOX2
HP_PROSTATE_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROSTATE_NEOPLASM	RNF43	CHEK2	RNASEL	TP53	RAD51D	RAD51C	PALB2	ZFHX3	PTEN	BMPR1A	BARD1	NAB2	RAD51	AAGAB	EPHB2	MDM2	CDH1	STAT6	MRE11	BRIP1	APC	RAD50	COL14A1	FOXE1	MXI1	CDKN2A	BRCA1	AR	BRCA2	GREM1	MAD1L1	NBN	NTHL1	KLF6
HP_HERNIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HERNIA	PIGN	NLRP3	LRP2	MN1	CHRNG	MECP2	ARSB	ODC1	FANCB	VPS37D	IFT122	ABCD4	POU1F1	TMCO1	BMP1	CTCF	BHLHA9	RARB	HES7	FOXE3	UBE2T	GPC4	ZFP57	IDS	C1R	LTBP4	TMTC3	GNE	ZNF699	HYLS1	COL11A1	NOTCH1	MEGF8	IPO8	AMH	SMARCB1	DYNC2I1	RTL1	NDUFB11	FRAS1	SETD2	TGFB2	GATA4	GNPTAB	PLOD1	IFT140	FZD2	WDR35	COL11A2	ELOVL4	ATP6V1A	NSD2	ACTG2	SHPK	SLC26A2	SPECC1L	DHCR7	FBXW11	TCF4	C1S	GLI3	ATP6V0A2	GP1BB	MAT2A	SMARCA4	ARFGEF2	ZIC3	LONP1	LMOD1	MBTPS2	FBN1	MED12	RREB1	SCN2A	SKI	SMC1A	FLNA	HYMAI	KDM5B	UBA1	CD96	H19	DIS3L2	ARID1B	HSPG2	FREM2	WT1	PALB2	DSE	TP63	TWIST2	VANGL2	CREBBP	IGF2	TPO	DYNC2H1	MLXIPL	BRCA2	DVL1	KMT2C	SMCHD1	PRDM5	LOX	IYD	WNT4	TBX3	ISL1	TGFBR1	MAFB	COL1A1	TBX1	RIN2	STAG2	PIGQ	KNSTRN	SH3PXD2B	MKS1	NALCN	COLEC11	FREM1	GATA6	EHMT1	FKBP6	NPHP3	AGA	DMXL2	KIF7	RAD51C	FLNB	DUOXA2	LBR	GTF2E2	APC2	HEY2	ARID1A	NEU1	LHX3	ADAMTS2	MAD2L2	CDC42	CHD7	PRKG2	MDFIC	FANCA	MMP14	AR	NEK9	SGSH	SLC2A10	CLIP2	PIK3R1	BRIP1	AEBP1	SLC37A4	CC2D2A	TRRAP	CEP120	ARF1	GPC6	MESP2	RFWD3	TMEM107	SMARCD1	MID1	SIK1	NUP107	ROR2	TGFBR2	SATB2	MAN2B1	ATAD1	FTO	HCCS	IDUA	FGFR1	RAD21	RNF13	DLL3	MSX1	CAMTA1	FOXF1	CUL4B	EZH2	LAGE3	AP1S2	KDM6A	GLRB	PTDSS1	SKIC3	GNB2	COL2A1	SLC25A24	GRM7	CHAMP1	ABCC9	TG	COL3A1	SLC6A5	FUCA1	PAFAH1B1	MYLK	GMNN	CDKN1C	POGZ	SALL1	ATP7A	OSGEP	FBLN5	MYH11	CDCA7	BRCA1	FARSB	HIC1	PACS1	TASP1	NOTCH3	RAC1	NSD1	DGCR8	DNMT3A	WNT5A	ZBTB24	KIAA0586	P3H1	TGDS	MAP1B	GPC3	LTBP1	ZFPM2	PIGY	CDKL5	PYCR1	PIEZO2	ANTXR1	B3GLCT	HELLS	COL5A1	COMT	ALDH18A1	POLR3GL	BAZ1B	MEG3	ELN	CCDC22	DVL3	OCRL	PCNA	SEC24C	TRAF7	PBX1	NOTCH2	WDR73	RPGRIP1L	RIC1	FLI1	SMAD3	CASK	RSPO2	EIF4H	SHANK3	COX7B	MYH3	NAA10	GLB1	ZEB1	ERCC4	MCTP2	SOX6	MAPRE2	MFAP5	SET	NXN	CBS	ERMARD	SMARCE1	SOX11	LFNG	RLIM	COL1A2	GDF1	NR2F2	SMARCA2	KCNH1	SRCAP	PIGP	PRKG1	PRR12	GUSB	LDHD	NFIA	THRA	MASP1	AUTS2	DUOX2	KCNA1	KDM3B	KCNQ1OT1	AMER1	PIK3CD	CLDN19	FANCC	SLC5A6	STRA6	NDUFA8	IKBKG	BRD4	PHGDH	ADAT3	PPM1D	RPL10	NKX2-5	ABCC8	TSHB	COL5A2	HIVEP2	TNXB	CTNND2	HMGA2	MAP3K7	FGD1	XRCC4	TNRC6B	FGFR2	METTL27	INPP5E	TSHR	DPH1	PLAGL1	ACTA2	WNT3	HDAC8	PI4KA	MYRF	EFNB1	TRIP11	PAX8	H4C3	GTF2IRD1	OCLN	SLC25A22	TENT5A	G6PC3	GNS	NDUFAF5	SHOC2	BCL11B	IFT80	TMEM94	GLIS3	GNAO1	CPLX1	MAMLD1	ATP1A2	DGCR6	GZF1	GTF2H5	GRIN2B	SLC5A5	MTHFR	TRAIP	RAB23	BCL7B	MEIS2	SEC31A	TMEM70	TPRKB	IFT81	TRIM8	ELMO2	GON7	NCF1	FKBP14	LETM1	SUZ12	CRKL	EFEMP2	MPLKIP	BRF1	EOGT	EN1	SIN3A	DLK1	ARX	DYRK1A	TXNL4A	EED	NAT8L	ARPC4	RFC2	ABL1	FANCD2	SLC35D1	WDR4	DDX6	TBL2	SMAD4	PORCN	AMHR2	TGFB3	CHUK	RPS26	ZNF469	CDH11	SMAD2	GTF2I	GLRA1	DYNC2I2	FANCI	BRAT1	TUBB	BMPER	PIGG	NECTIN1	PROP1	TFE3	CCBE1	SMARCC2	ALDH1A2	TTC7A	MAPK1	NELFA	HGSNAT	TMEM67	KCNQ1	XRCC2	MAF	STX1A	WDR19	DNAJC30	ERCC3	SLC10A7	ESS2	SH2B1	DGCR2	SCN1B	ATRX	CDC42BPB	NUP133	NEDD4L	BCR	ATP6V1E1	NIPBL	KMT2D	RIPK4	LHX4	PTCH1	SNIP1	YWHAE	HIRA	BSCL2	PPP2CA	SLC29A3	IRF6	VPS33A	COLEC10	PLAG1	ANAPC7	SETBP1	PLD1	PPP2R1A	SOX4	SKIC2	TARS1	DACT1	WASHC5	ARVCF	ADAMTSL2	CLCN4	FOCAD	PUF60	CHST3	TOR1A	TMEM216	GDF11	SMC3	SLC35C1	KCNJ8	ZBTB7A	DNMT3B	FANCF	HDAC4	CARS1	BUD23	NFIX	DNAJC21	MMP2	SF3B4	IRX5	ARID2	RAB3GAP2	PLOD2	ERCC2	SEMA5A	PPP1R12A	RNF113A	CWC27	GJA1	AGPAT2	PIK3CA	TP53RK	GRIP1	HESX1	CHST14	FANCM	SLX4	BCOR	POLR2A	TTC26	KCNJ11	GTF2IRD2	LIMK1	FANCL	MED13L	PPP2R3C	SERPINH1	DPF2	ALG9	GRIN1	TMEM270	WLS	RNF2	MTOR	NEUROD2	GPHN	JMJD1C	RIPPLY2	GALNS	NSDHL	B3GAT3	FANCE	GAD1	FANCG	MED25	OFD1	PIGS	GORAB	RPS28	HOXD13	ADNP	RPS6KA3	RAD51	FIBP	CTBP1	UFD1	PNKP
HP_ACANTHOLYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACANTHOLYSIS	DSG1	ATP2C1	DSP	JUP	ATP2A2	KRT2	HLA-B	IKZF1
HP_ORCHITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORCHITIS	STAT4	HLA-B	IFNGR1	IL23R	MEFV	TLR4	C4A	IL10	IL12A-AS1	CCR1	KLRC4	TNFRSF1A	FAS	IL12A	ERAP1	UBAC2
HP_TOENAIL_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TOENAIL_DYSPLASIA	GJC2	ATP6V1B2	BHLHA9	TBC1D24	BMP2	EVC2	EOGT	LMX1B	TAF1	VEGFC	FLT4	SHANK3	SOX18	EVC	TP63
HP_FINGERNAIL_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FINGERNAIL_DYSPLASIA	KRT6B	KRT17	KRT16	DVL1	LMX1B	WNT5A	IL11RA	TFAP2A	KRT6A	LRP4	NXN	DVL3	SOST	ROR2	FZD2	TP63
HP_NEOPLASM_OF_THE_MIDDLE_EAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_MIDDLE_EAR	SYK	SIX1	DDR2	NFIX	EYA1	NSD1	NKX2-1	SETD2	APC2	FOCAD
HP_PANCREATIC_APLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATIC_APLASIA	PDX1	HNF1B	LHX1	CNOT1	PTF1A	GATA6
HP_ABNORMALITY_OF_THE_PERIUNGUAL_REGION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PERIUNGUAL_REGION	KRT6B	WNK1	CEBPE	ADAM17	SCN9A	SLC39A4	LAMA3	STING1	STAT3	LAMC2	LAMB3	MBTPS2	KRT17	KRT16	TSC2	IFNG	TSC1	KIF1A	KRT6A	BLM	RETREG1	NFKB2
HP_SEPSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEPSIS	FOXP3	IGKC	WIPF1	HMOX1	CYP4F22	YARS1	CTCF	TFRC	TREX1	APC	BLNK	ECE1	LAMB3	SERAC1	ADA	TCF3	EDNRB	RAG1	BTK	IDH1	WAS	VPS33A	IL7R	RMRP	AK2	ALG1	MYLK	SRP54	EDN3	HYOU1	SREBF1	KRT5	ALG12	RNF13	SBDS	ACTG2	SAMD9	DCLRE1C	MNX1	NCF1	RAG2	FOCAD	ABCA12	GJB2	COG4	IL2RG	SEMA3D	LMOD1	RAC2	LIG4	NCF2	G6PC3	ALOX12B	RET	CYBA	CHD7	ELANE	PEX19	MRTFA	CD79B	CYBB	ERBB2	ALOXE3	ATP7A	LRRC8A	NIPAL4	FCGR3B	CTLA4	GJB6	IGHM	NRTN	LRBA	CD27	HLA-B	CTNNB1	GDNF	LAMC2	ABCD1	CYBC1	PGM3	SASH3	PKP1	PIK3R1	ABCA3	GALM	DNAJC21	ERBB3	DEF6	IKZF1	MYD88	SMARCD2	EFL1	FERMT3	IGHG2	SULT2B1	COX8A	NFKB2	CD40LG	TGM1	LAMA3	MYH11	CXCR4	IGLL1	MMUT	SEMA3C	SFTPB	SFTPC	GALT	KRT14	SMO	ASPRV1	SDR9C7	LIPN	NCF4	CD79A
HP_LONG_FINGERS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_FINGERS	CBS	SH2B1	TP53RK	GABRA3	IARS2	LMNB2	ODC1	PHF21A	RPL10	CLCN3	BMP1	EIF2S3	COL2A1	FOXE3	PRDM5	CDKL5	SOX5	C1R	HIVEP2	FBN1	FLNA	PSMC3IP	IPO8	MYMK	NUP107	ASXL3	SCN9A	MRPS22	TTN	SMARCE1	TGFB2	TGFBR1	ECE1	DPYSL5	SMAD2	TBX1	ACTA2	NSD2	ATP2B1	TCF4	GP1BB	SMARCAD1	AIP	MAT2A	SLC39A13	SLC25A46	GATA2	SPIDR	MYOD1	CPT2	ZEB2	TGFBR2	XYLT2	YY1	RPS6KA3	B4GALT7	FBLN5	RREB1	NALCN	NKAP	NARS1	KDM1A	MED12	SPOP	EXOC6B	ALG3	SMARCA2	SKI	TMEM94	CHD4	CPLX1	UNC80	PMM2	PHIP	OTUD6B	FBN2	MAPK1	ZDHHC9	DPAGT1	DSE	EXOSC5	MED12L	BIN1	PLOD1	CDC42	POLR3A	NPR3	SLC2A10	MAPRE2	SMAD3	H3-3B	KMT2C	CYP26B1	VPS13B	LOX	NPR2	CHRNG	COL12A1	DOCK3	RUSC2	LETM1	GJA1	CRKL	WNK1	FBXO11	PSMB8	PTCH2	BRF1	RAB11B	PTCH1	COL11A1	SMC1A	PIGV	TCF20	DYRK1A	PIEZO2	EED	KATNB1	ABL1	KMT2A	PYCR2	EFEMP2	DPH5	LAGE3	DDX6	CTSC	TMCO1	HEY2	TGFB3	PQBP1	TRIO	BMP15	POLR3H	INPPL1	ZNF469	SATB2	NFIX	CNTN1	EBF3	FARSA	KIF1A	PIGG	RUNX2	CCDC88A	GNB1	GATAD2B	YRDC	TFE3	SLC25A12	PLAA	LARS1	ZMYM2	HDAC8	SUPT16H	PIGN	EBP	FIG4	PHGDH	TUBB	MAP1B	SPEN	NELFA	ZNHIT3	SETD1B	MAF	HEATR3	NSDHL	UBE3B	SVBP	KDM5C	PRKAR1B	PCGF2	CCNK	AMMECR1	SLC12A6	GATA4	ATRX	CDC42BPB	CIC	PIGB	TNNT3	KIF7	DHX30	ASPH	BCR	KMT2E	OSGEP	SNIP1	MYLK	NR2F1	BNC1	LAS1L	GJB3	GNB2	HIRA	TELO2	H4C5	AEBP1	NR5A1	UPF3B	ALG12	RNF13	H3-3A	GJB4	POR	ARVCF	PUF60	PIGA	SMS	SCARF2	ALG14	MFAP5	PRIM1	SUFU	ADAMTSL1	FSHR	HERC1	RETREG1	PTRH2	SPEG	B3GALT6	SMAD4	VAC14	HNRNPH2	COMT	IRX5	ASXL1	TWIST1	PAX1	MTM1	PHF6	KIFBP	ZSWIM7	ZMIZ1	SEC24C	WASF1	CHST14	PHF8	PAPPA2	SON	KANSL1	RYR1	NAA10	KDSR	COG7	HUWE1	MAP3K7	USP9X	SOX6	ACTG2	DLX5	SIM1	DLG4	FGFR3	MYH11	CRLF1	COL3A1	COPB1	WLS	PRKG1	PRR12	SIN3A	JMJD1C	TBR1	MAGEL2	KCNE5	PUM1	ARX	COL1A2	HNRNPH1	OFD1	STUB1	GNAI1	ACSL4	GPR101	PEPD	EHMT1	FGFR2	BCORL1	TBX4	AMER1	TRAPPC9	ELN	CTBP1	UFD1	CNOT3	CNOT1
HP_APLASIA_HYPOPLASIA_OF_THE_COLON	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_COLON	AP1S1	ACTG2	GATA6	MYH11	MYLK	LMOD1	SOX10	ZMPSTE24	LMNA	GUCY2C
HP_HALITOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HALITOSIS	SELENBP1	CFTR	MAT1A	SCNN1G	SCNN1A	SCNN1B
HP_BLUE_NEVUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLUE_NEVUS	PRKAR1A	PDE11A	CAMK2A	GNA11	TYRP1	HEXB	HRAS	TASP1	PUS3	ARL6IP6	FOCAD
HP_RENOVASCULAR_HYPERTENSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENOVASCULAR_HYPERTENSION	TOM1	TMEM270	DNAJC30	BCL7B	MLXIPL	VPS37D	GTF2I	NCF1	COL3A1	GTF2IRD1	STAT1	FIG4	EIF4H	BUD23	CLIP2	GTF2IRD2	LIMK1	ABCC6	FKBP6	XYLT2	YY1AP1	METTL27	VAC14	NF1	RFC2	STX1A	BAZ1B	XYLT1	ELN	TBL2
HP_LONG_THORAX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_THORAX	INTU	BCOR	TRPV4	PCGF2	PRKACB	NAA10	PRKACA	KAT6A
HP_INTESTINAL_FISTULA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTESTINAL_FISTULA	CDK8	IL10RB	MNX1	TCTN3	FREM1	SPINT2	KIF7	SALL4	DDB1	CD3G	MKKS	DACT1	TGFB1	PKP1	SYK	B3GLCT	ELF4	POLR1B	POLR1C	DOCK2	PI4KA	SALL1	PIGN	UBR1	POLR1D	CCNQ	RNU12	TCOF1	LONP1	KDM6A	KMT2D	MID1	RECQL4	JAK3
HP_GLOMERULOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLOMERULOPATHY	DNASE1L3	STAT4	OCRL	MMACHC	WIPF1	IL23R	AMMECR1	GLA	LMNA	MEFV	MT-TE	HLA-DPA1	PRTN3	IL10	CCR1	WT1	LPIN2	KCNE5	FOXC2	ELP1	UBAC2	FN1	APOE	LMNB2	HLA-B	MTRR	IFNGR1	ACSL4	TLR4	HLA-DPB1	PTPN22	MT-TK	C4A	SCARB2	IL12A-AS1	MT-TL1	HNF1B	KLRC4	CTLA4	FAS	IL12A	ERAP1	LMX1B	WAS
HP_CHEILITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHEILITIS	KRT6B	OCRL	SLC46A1	CLEC7A	SLC39A4	GJB2	KRT17	MBTPS2	PERP	IL17F	FERMT1	TRAF3IP2	PKP1	KRT16	IL17RA	CAST	IL17RC	KRT6A	AMN	BLM	SREBF1	DSC3	CUBN	GJB6
HP_LYMPHOCYTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LYMPHOCYTOSIS	NCKAP1L	CASP10	REL	RASGRP1	FOCAD	PRKCD	PTPRC	FAS	HLA-DRB1	LMNB2	NRAS	ELF4	XIAP	SH2D1A	RNASEH2B	BTNL2	EIF2AK3	ZAP70	ARPC1B	KRAS	CARD11	FASLG	IL7R
HP_GALACTORRHEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GALACTORRHEA	PRLR	IRF4	GPR101	MEN1	CDH23	AIP	CDKN2C	CDKN2B	CDKN1B	CDKN1A
HP_ROUND_EAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ROUND_EAR	TPM2	MYH3	PSMC3	CEP57	TNNI2	TNNT3	NALCN
HP_ABNORMALITY_OF_VITAMIN_K_METABOLISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_VITAMIN_K_METABOLISM	HLA-DQB1	DNAJC21	AMACR	SEMA4D	GPR35	PKHD1	MST1	EFL1	SRP54	TJP2	DZIP1L	TCF4	SBDS	HLA-DQA1
HP_VITREOUS_FLOATERS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VITREOUS_FLOATERS	LRP5	ZNF408	P3H2	TSPAN12	ARL3	FZD4	PAK2	ARSK	TTR	CTNNB1	HLA-A	NDP
HP_NEOPLASM_OF_THE_SMALL_INTESTINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_SMALL_INTESTINE	MLH1	SDHB	SDHD	APC	SDHA	WRN	STK11	SDHC	BMPR1A	KIT	AAGAB	MSH2	PDGFRA	NTHL1	SMAD4	COL14A1	LMNA	GREM1
HP_NEOPLASM_OF_THE_LARGE_INTESTINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_LARGE_INTESTINE	PMS1	BRAF	MBD4	BUB3	SDHA	SDHD	POLE	PALB2	CEP57	SDHB	SMAD4	BRCA1	APC	FOXE1	BRCA2	BMPR1A	USF3	RPS26	RAD54B	NRAS	MINPP1	RPL26	RPS19	HABP2	MSH3	RPS24	KRAS	GATA1	TP53	MSH2	FLCN	SEC23B	MLH1	POLD1	RPS27	MSH6	TSR2	ADA2	PTPN12	STK11	MCC	FAN1	PALLD	RPS28	DICER1	BUB1B	AAGAB	TCF4	MDM2	MUTYH	AXIN2	PTEN	NTHL1	RPL15	EPCAM	RPS20	PIK3CA	FGFR3	CDKN2A	RPL11	MLH3	BLM	SMAD7	RPS15A	ENG	KIT	DOCK8	SH3KBP1	RPS29	GPR35	TGFBR2	RPL27	MST1	RPL35A	AKT1	AURKA	BUB1	PMS2	DCC	TRIP13	CHEK2	SRC	PDGFRA	TLR2	PTPRJ	CCND1	RPS17	COL14A1	SEMA4A	DLC1	RPS10	CTNNB1	RABL3	RNF43	SEMA4D	PDGFRL	RPL35	SDHC	PDE11A	PRKAR1A	KEAP1	KLLN	RPS7	RPL18	PLA2G2A	GREM1	RPL31	EP300	BAX	RPL5
HP_BENIGN_NEOPLASM_OF_THE_CENTRAL_NERVOUS_SYSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BENIGN_NEOPLASM_OF_THE_CENTRAL_NERVOUS_SYSTEM	PMS1	NRAS	PIK3CA	SDHB	MBD4	SMARCE1	TSC1	GCDH	SDHD	CPLANE1	BAP1	MN1	VHL	PDGFRB	BMPR1A	USF3	KIAA0753	TERT	TMEM127	SMARCB1	MDH2	CCBE1	CCM2	ADAMTS3	EIF3F	PDCD10	GLI3	OFD1	FAT4	CDKN1B	RET	SEC23B	TCTN3	CREBBP	MSH2	SOX2	MAN2C1	FH	SDHC	PTEN	NF2	IFNG	ALX3	FAN1	SLC25A11	ALX1	SMO	MSH6	KIF1B	MAX	NTHL1	EPCAM	RPS20	KRAS	PDGFB	CDKN2B	ZSWIM6	TIAM1	AKT1	TOPORS	TGFBR2	WDPCP	NOTCH3	SIX6	PMS2	NF1	MLH1	TRAF7	TP53	SUFU	WRN	TSC2	VPS16	SEMA4A	TMEM216	MLH3	CHEK2	CDKN1A	KRIT1	CCND1	OCRL	KIF7	MEN1	ARMC5	FAM149B1	KLLN	GNAS	FGFR1	SDHA	CDKN2C	LMNA	DLST	SDHAF2	EP300	PDE6D
HP_MALIGNANT_NEOPLASM_OF_THE_CENTRAL_NERVOUS_SYSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALIGNANT_NEOPLASM_OF_THE_CENTRAL_NERVOUS_SYSTEM	PMS1	PTCH2	ZFTA	TSC1	ASCL1	RERE	NF1	SMARCB1	GABRD	APC	NUTM1	CASZ1	ERBB2	GPR161	BRCA2	POT1	NBN	CTNNB1	SETD2	PHOX2B	MSH3	PRKCZ	SPEN	DICER1	SETBP1	RET	CDKN1B	MSH2	SUFU	ASXL1	SKI	MLH1	HSPG2	NSD1	SDHB	TP53	IFNG	FAN1	GPC3	MYO1H	MDM2	MSH6	EPCAM	RPS20	KRAS	SMO	MMP23B	CDKN2A	BDNF	CDKN2B	EDN3	TGFBR2	GPC4	PMS2	PALB2	CHEK2	YY1	UBE4B	PRDM16	TSC2	LUZP1	BMPR1A	MAPRE2	SEMA4A	RELA	MLH3	BRAF	CDKN1A	PIK3CA	RUNX1	NF2	PTCH1	APC2	MEN1	PDPN	RAF1	TUBB	IDH1	KCNAB2	BRD4	ELP1	KEAP1	PTPN11	CDKN2C	GDNF	IDH2	KIF1B
HP_RECURRENT_CUTANEOUS_ABSCESS_FORMATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_CUTANEOUS_ABSCESS_FORMATION	GJB2	CARMIL2	UBE2A	PSENEN	BTK	LCP2	GJB6	CTSC	PSEN1
HP_APLASIA_HYPOPLASIA_OF_THE_EYEBROW	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_EYEBROW	HBA1	MAN1B1	KAT5	ODC1	CYP4F22	AASS	ITGA3	GJB2	SHOC2	HECW2	ALX1	COL3A1	OTX2	EDAR	LMNA	KIFBP	PURA	CDH3	KMT5B	RNU4ATAC	IL7R	KRAS	RNU12	RMRP	PIGK	GNPTAB	KDM6A	KRT71	STAG1	DSC3	MEGF8	DPH1	RNF113A	PI4KA	HR	TBX3	THUMPD1	TWIST2	WDR26	ATP1A3	SOS2	GJB6	LIG4	EDA	MBTPS2	RECQL4	YY1	KREMEN1	ALOX12B	ZMPSTE24	KAT6A	CHD7	KDM1A	SPOP	AXIN2	SMARCA2	TRPS1	EBP	LARP7	EDARADD	LZTR1	DCAF17	IL2RG	MAP2K2	BCL11B	DSP	MED12L	CDC42	PPP1CB	SOX18	MTX2	RPL21	KRT25	MAPKAPK5	TP63	LRP1	GTPBP2	LIPH	SNRPE	DSG4	BRF1	NECTIN1	TBCD	RIN2	DLX4	EPS8L3	ASXL3	COL11A1	COG6	DPH5	SULT2B1	CHST3	GJA1	PKP1	PRRX1	APCDD1	POLR3A	SOS1	WNT10B	TGM1	AHSG	LPAR6	DOLK	SIAH1	AEBP1	WNT10A	FIG4	USB1	PQBP1	PEX6	SDR9C7	LIPN	UBE3B	SLC1A3	JUP	CCNK	NSUN2	KDM4B	TTC7A	TMEM147	CDC42BPB	AARS1	PCNT	KRT17	DHX30	KMT2D	RIPK4	MED12	EDA2R	ADA	NF1	CDC45	MEIS2	H4C5	HNRNPK	LSS	BRAF	SPRED2	CWC27	MARS1	B4GALT7	TCF4	KRT74	ITGB6	H3-3A	ANAPC1	RAG2	KRT85	SF3B4	ABCA12	SMS	ATR	HDAC4	RAG1	HERC1	ANTXR1	NFIB	DNAJC21	WDR35	ALOXE3	SPINK5	NUP188	VAC14	NIPAL4	IRX5	ATP1A2	BANF1	FRAS1	SON	ATAD3A	CLDN1	LMBRD2	NSD1	FLI1	DCLRE1C	HRURF	CACNA1A	MESD	PLXNA1	STAG2	NAA10	RBL2	ALX4	PPP2R3C	CRIPT	ST14	HBA2	WLS	PEX1	KANK2	UROS	GAD1	MAP2K1	MED25	RPS28	HEPHL1	RAF1	ASPRV1
HP_SEPTO_OPTIC_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEPTO_OPTIC_DYSPLASIA	HESX1	SOX2	FGFR1	OTX2	CDC42BPB	CDON	GPR161	WNT3	STAG2	WDR11	POU1F1	LHX4	GLI2	FOXA2	ROBO1	ARNT2	PROP1	PROKR2	RSPO2	SOX3
HP_NEOPLASM_OF_THE_MALE_EXTERNAL_GENITALIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_MALE_EXTERNAL_GENITALIA	AKT1	KANSL1	PRKAR1A	PDE11A	DMRT3	STS	FLI1	GATA4	CDC73	MC2R	PTEN	WT1	SRY	PRKACA	DICER1	TP53	CHEK2	NR5A1	WWOX	MDM2	STK11	AR	CYP11B1	STAR	KEAP1	ZFPM2	PDE8B	NNT	TXNRD2	NR0B1	SOX9	CDKN2A	EWSR1	CDKN1B	IGF2	MRAP	VAMP7	MAP3K1	DHX37
HP_ABNORMAL_EMOTION_AFFECT_BEHAVIOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EMOTION_AFFECT_BEHAVIOR	AMPD2	PMS1	CEP290	DEPDC5	ZIC2	NDUFA9	ODC1	CYP27B1	CUL4B	SPATA5	TREX1	PLCH1	HECW2	ZBTB20	GLS	GRIA2	PRNP	TGIF1	TERT	CACNB4	AVPR2	RNASEH2C	ALDH7A1	SPG11	SMARCB1	NODAL	SLC25A20	SETD2	ADAR	EHMT1	NDUFS7	HFE	PRPH	IFIH1	PSEN1	DPYSL5	SIX3	VCP	SPOP	CLCNKA	EPM2A	NAGLU	FBXW11	NDUFA13	DNMT1	MSH2	FMO3	WDR26	COX15	PPT1	EIF2B5	PUS3	MECP2	ZEB2	WAC	DYRK1A	SLC39A4	DLL1	SLC25A1	NDUFA2	UNC80	LARP7	UROC1	ARID1B	PDGFB	COQ2	AP2M1	RNASEH2B	TREM2	CREBBP	NRCAM	ASS1	SATB2	MYO1E	PGK1	TMEM106B	CHMP2B	ERBB4	RPS6KA3	HLA-DQB1	NIPA1	RUSC2	USP8	WARS2	AP1G1	MAPT	GALC	CABP4	LEPR	KIF11	GLRX5	PIGQ	FBP1	PPP2R5D	TCF20	GNAS	DCTN1	LINGO1	NPHS1	HTR2A	C9orf72	FLII	UBE3A	LMAN2L	KMT2A	RNU7-1	KDM5C	EIF2B4	PAX2	ARID1A	CHKA	EFHC1	TRIO	UBA5	HLCS	NTRK1	CHD7	FGF8	SOX5	ENTPD1	ACTN4	RAI1	AVP	EIF2S3	GNB1	CDON	POU4F1	GLI2	GRIA4	GRIN1	PON3	FMR1	ASL	CDH2	USP48	SPEN	NDN	IL12A-AS1	SIK1	GNA11	HTT	SLC1A3	VPS35	FGFR1	SEPSECS	SNORD115-1	CAMTA1	GABRD	CHD2	ARSA	PLA2G6	PFN1	LAS1L	TBK1	TSEN15	GRM7	HDAC4	CTNNB1	DNAJC13	ATP1A3	PCDH19	SYT1	RNF13	NUP93	TCF4	TARDBP	SLC9A6	MADD	IBA57	SLC19A3	PDHA1	TTC5	JRK	SLC6A19	GABRB3	POLG	TMEM240	CDKL5	SPAST	LSM11	NDUFS8	SQSTM1	WDR45	SLC6A17	FGF14	MAPK8IP3	ALDH4A1	PON1	TK2	ZMIZ1	NDST1	SLC52A2	SYN1	WASF1	CCNF	KNL1	YIF1B	TIMM50	SDHAF1	CTSF	PRKACA	FOXH1	BSND	SHANK3	RBL2	TTI2	SNCA	GCH1	CRH	SHH	C12orf57	AUH	GJA8	KLRC4	GABRA1	METTL5	INPP5E	SOX11	CD2AP	MAGEL2	CARS1	TWNK	SRCAP	SDHD	SPART	PARK7	GBA1	AFF2	MED23	WASHC4	PDCD1	CHCHD10	HBB	BCORL1	SYNGAP1	SLC1A2	FDFT1	DISP1	SIM1	AIP	PHIP	PODXL	MGAT2	KAT5	NEK1	TYROBP	STIL	PAH	ITPA	SNRPN	ANLN	ZNRF3	IL10	PRKAR1A	CILK1	MKRN3	NAA10	UNC13A	C19orf12	CACNA1A	KMT5B	PRKAR1B	CPS1	OCRL	MBD5	GABBR2	AIFM1	STAT4	THOC2	CLN8	NPHS2	ALG14	WDR62	TP53	SLC25A22	ARHGDIA	PAK3	SHMT2	PTPRO	OSTM1	MTPAP	DNM1	ABCA2	GM2A	GNAO1	GABRG2	FTL	IFNG	DGCR6	KRAS	CLCN4	NAGS	DDX3X	GLE1	CNP	GRIA3	GRIN2A	VPS13C	PIDD1	OTC	HIBCH	DPAGT1	CRB2	CP	CLN5	ERAP1	NUP37	FAT4	STEEP1	GFAP	GCSH	SLC25A19	TKT	MLH1	RPL10	INF2	BCOR	FOXRED1	ANKFY1	TBP	IFNGR1	ATXN1	ARX	EIF2B1	SNORD118	PIGH	TMCO1	UBE2A	CLN3	SMARCC2	SLC46A1	OPHN1	TTC19	NHLRC1	HDAC8	MED12	AP1S2	SMG8	ALG13	TAOK1	CHRNA2	DEAF1	HERC2	CLCN2	MOCS2	CHD5	OCA2	GRN	CRBN	GJB2	RORB	NDUFS2	DGCR2	SCN1B	GLDC	NAXE	ST3GAL5	LIPT1	RNASEH2A	KCNQ3	SPG21	VPS53	SLC2A1	PDCD6IP	PTCHD1	PERCC1	KPTN	NBEA	PRKCZ	SDHB	C4A	SLC1A4	PSAP	CAMK2G	ELP2	HSD17B10	TMEM222	SOX4	ADAT3	IL23R	FOCAD	MEFV	PUF60	BRAF	UBQLN2	B4GALNT1	NR3C1	TDGF1	SETBP1	SASS6	TSC1	EPCAM	RPS20	NEXMIF	ANK3	GRIK2	GJA5	PMS2	NSD1	JPH3	RNF168	UBE4B	GAS1	SDHA	PDE11A	SARS1	DYNC1I2	HTRA1	FRRS1L	DPF2	MLH3	SAMHD1	EXOC8	SLITRK1	PRRT2	NTNG2	NEUROD2	TSPOAP1	CEP85L	GYS2	IQSEC2	PTCH1	SPR	SURF1	SUCLA2	ACAT1	NUP133	ELP1	ZSWIM6	DNAJC6	TRMU	HNRNPA1	NONO	ATP1A1	SMARCE1	NACC1	NSD2	NSDHL	CASZ1	PRF1	ATXN2	FUS	TMEM67	TLR4	TUBG1	DPYD	PRKN	FBXL3	PIGL	ASXL1	TMEM231	DHCR7	HSPG2	CEP152	CASR	ST3GAL3	SMARCA4	HMGCL	EIF2B3	SMO	TBC1D23	ATP13A2	NALCN	NKAP	WT1	SCN2A	PCBD1	ALDH5A1	LRRK2	KDM5B	SCN1A	SYNJ1	NDUFA12	MED12L	NDUFAF2	USP9X	KMT2C	SLC6A8	GAMT	NDP	PSMD12	MAGI2	FIG4	IMPA1	VAMP2	BAP1	AGO2	PON2	TBX1	PRDM16	NUP205	PACS1	PIGF	DMXL2	ASXL3	UCHL1	APC2	NDUFA10	NF2	PDPN	HDC	KCNT1	CLP1	TRPC6	SETD1A	FRMPD4	GATAD2B	AQP2	CDH23	KANSL1	NDUFS3	TAF15	PLP1	KARS1	SMARCD1	ENPP1	VPS50	PDE2A	NDUFA4	SVBP	ASAH1	BMP6	KDM4B	TMEM147	RERE	SPTBN1	KMT2E	NAA20	PWRN1	RTTN	ASPA	GNB2	HLA-B	ALAD	PDE8B	PWAR1	ZMYND11	PANK2	HTRA2	POGZ	NDUFV1	EIF2B2	TASP1	DGCR8	DNMT3A	COQ8B	COG4	MAPK10	STUB1	PIGY	NIPA2	GIGYF2	MSH6	MYT1L	UQCC2	ATP5F1A	NFIB	PTS	MMP23B	EIF4G1	ATP1A2	BPTF	FTSJ1	PET100	SLC6A3	EP300	NOTCH3	HLA-DRB1	SLC16A2	ATRX	TRAF7	DCHS1	CASK	USP7	TCN2	SOD1	BMPR1A	NUP107	SEMA4A	NFASC	SMC1A	ATP6V0A1	RNF125	ATP7B	DAO	RLIM	EXOSC8	SLC6A4	SMARCA2	PIGP	NDUFA6	ARMC5	ABCA12	BRF1	PLPBP	FOXP1	NDUFS4	ACOX1	NDUFAF5	KDM3B	EPHA4	AMT	VDR	PHGDH	NDUFV2	MATR3	MAN1B1	C12orf4	ABCC6	CLCN3	HIVEP2	TNIK	CHRNA4	FOXG1	PPARGC1A	TBC1D8B	ARG1	HPRT1	SKI	STX16	IQSEC1	MIR17HG	ADSL	FAN1	NDE1	EEF1A2	GNS	PTH	BCS1L	VPS13A	PINK1	PRODH	CLTRN	MAPK1	ABCC8	TRAPPC10	MTFMT	ALPL	CHRNB2	UBE4A	RBBP8	TRIM8	TRIP12	CNTNAP2	CEP104	EMP2	GAPVD1	UBTF	NDUFAF4	APOL1	CFAP410	RAB11B	LUZP1	AKT1	VPS16	ATG7	TH	DDC	KIF5C	NAT8L	ARPC4	PIK3CA	ZFYVE26	CLCNKB	SLC25A13	PUS7	TUBB3	NFIX	ATP10A	CUX2	ANXA11	GLT8D1	MT-ATP6	KCNAB2	TFE3	QDPR	SH2B1	NEFH	DARS1	KCNA1	NPAP1	ESS2	MAOA	CDC42BPB	NDUFS1	DCDC2	NIPBL	VAPB	TSFM	ANG	SLC39A14	H4C5	STAG2	SNORD116-1	COL4A3	TACO1	TRMT5	IL12A	SUCLG1	MANBA	PLCE1	BCAP31	DNM1L	ECM1	ATXN10	ASH1L	KIF15	NHLRC2	PSMB1	SRPX2	SARDH	HNRNPH2	LINS1	ARID2	PYCR2	OPTN	STT3A	TGFBR2	CAMK2B	CYP27A1	NDUFAF6	NUP85	CCR1	TMEM237	SUFU	TSC2	SLC2A3	CDKN2A	MED13L	SMPD1	FUZ	SIN3A	DCX	MAB21L1	ECHS1	NUP160	CYP2R1	UBAC2	PYGL	MED25	EBP	ALG9	CLTCL1	SHQ1	ADNP	GRIA1	HEPHL1	SLC6A1	NAXD	FBP2	ARHGAP24	FAS	PNKP	DAAM2
HP_ABNORMAL_FEAR_ANXIETY_RELATED_BEHAVIOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FEAR_ANXIETY_RELATED_BEHAVIOR	PMS1	MT-ND4	SCN1A	DEPDC5	ADGRV1	SDHB	ZIC2	VPS37D	VCP	PHF21A	NSD2	ADCY5	TREX1	CDKL5	PLCH1	DEAF1	HTT	ZBTB20	VHL	SERPINA1	PRNP	TGIF1	C9orf72	TERT	TBK1	ATXN2	FUS	NODAL	DNMT3A	SETD2	PRKN	FMR1	PRPH	STX1B	SIX3	MAPT	RRM2B	SPECC1L	ARSG	SCN9A	MSH2	CASR	GP1BB	MYO7A	MT-TL1	LGI3	FMO3	CLRN1	FH	ESPN	TET3	EIF2AK1	MEN1	WAC	RREB1	DLL1	MAX	ALDH5A1	LARP7	SMC1A	TAF1	WARS2	CEACAM6	GABRD	GAS1	POLG	PDGFB	SYNJ1	HSPG2	COQ2	SGCE	STIL	SHH	MED12L	HS6ST1	HLA-DQB1	MLXIPL	FOXH1	GRIN2A	FGF8	ERBB4	NDP	GABRB3	USP8	PSMD12	AP1G1	YY1	FIG4	KCTD17	PON2	CABP4	XK	GCLC	TBX1	FA2H	TCF20	GNAS	CHCHD10	DCTN1	EHMT1	FKBP6	HTR2A	FLII	WDR11	UCHL1	KMT2A	APC2	CCND1	SDHD	MT-ND6	HFE	CHD8	RIMS2	EDNRA	FOXP1	SOX5	RAI1	AR	SLC11A1	SETD1A	GNB1	CDON	CDH23	GLI2	MT-TS2	IMPDH2	CLIP2	PON3	GNRHR	USH1G	CDH2	USP48	KANSL1	TAF15	SDHA	MECP2	MIF	MT-TQ	SETD1B	SCN1B	GNA11	H1-4	RET	MAN2B1	PPP1CB	SLC6A19	RAD21	DLAT	MT-ND5	FGFR1	SLC25A4	TMEM147	CIC	SPTBN1	TLR7	ABCC9	KMT2E	CACNA1H	PFN1	COMT	TMEM127	ALAD	IGF1R	MDH2	KCNN4	HTRA2	ATP1A3	GABRG2	THOC2	TARDBP	NSD1	HTRA1	SLC25A11	KCNT1	DDB1	EPAS1	STUB1	NSMF	SLC35C1	SLC26A9	WFS1	MSH6	KIF1B	NFIB	NR4A2	SQSTM1	PPOX	SLC6A14	PSEN1	ALDH4A1	PON1	PDGFRB	BAZ1B	BPTF	ELN	FTSJ1	HLA-DQA1	GNRH1	NOTCH3	SEC24C	HMBS	WHRN	PCDH15	CCNF	ATRX	PDE10A	PCDH19	CLN3	PROK2	NTNG1	EIF4H	SLC2A1	STAG2	SOD1	SNCA	NKX2-1	CRH	BMPR1A	SEMA4A	NFASC	CEP78	DYRK1A	MT-TF	RNF125	YWHAG	DAO	RLIM	TLK2	OCRL	SLC6A4	PRR12	SDHC	TGFB1	FGF17	SPART	PRKAR1A	PARK7	TOR1A	LRRK2	NONO	HCN1	GPR101	POGZ	CEACAM3	STX1A	GALT	DISP1	NFIX	GABRA1	AIP	EPHA4	DLST	PHIP	BRD4	PPM1D	PODXL	MATR3	NEK1	CLCN3	ZNRF3	GRN	ACSL4	HIVEP2	CHD7	UNC13A	CHRNA4	PRKAR1B	PPARGC1A	PTCH1	SLC9A3	MSTO1	METTL27	MBD5	PRRT2	PPP2R2B	TDGF1	DPH1	TP53	STX16	HDAC8	GLA	MT-TH	CLCA4	COL7A1	MIR17HG	ALG14	FAN1	CPOX	GTF2IRD1	PAK3	TREM2	UQCRC1	TWNK	KISS1	IFNG	MAMLD1	KRAS	CLCN4	VPS13A	GLE1	PINK1	VPS13C	CLTRN	MAPK1	HEXB	BCL11B	CLN5	SCN2A	CHRNB2	NAGS	BCL7B	STEEP1	CREBBP	TRIP12	GABBR2	NCF1	MLH1	USH1C	IQSEC2	DUSP6	CFAP410	SLC45A1	PURA	DCTN4	RFC2	PIK3CA	TBL2	POLG2	TMCO1	NF1	TACR3	TTC19	SATB2	TAC3	GM2A	GTF2I	EMC10	ANXA11	GLT8D1	CHRNA2	NEFH	PQBP1	CHMP2B	CIZ1	DNAJC30	KPTN	CDC42BPB	SNRPN	VAPB	SRCAP	ANG	HIRA	FLT4	MT-CO1	HARS1	SETD5	SPRY4	ARVCF	TMEM106B	BRAF	SMC3	UBQLN2	NR3C1	ASH1L	SLC7A6OS	FRMD5	GCH1	BUD23	SETBP1	TSC1	SRPX2	EPCAM	RPS20	NEXMIF	CIB2	CTNNB1	HNRNPH2	JRK	KCNN2	HMOX1	GSTM3	OPTN	TGFBR2	GRIK2	PMS2	TANC2	MMP1	JPH3	MT-CO2	KMT2B	DRD2	NIPBL	PDE11A	CACNA1A	TCF12	TSC2	GTF2IRD2	LIMK1	SLC2A3	CDKN2A	MLH3	KISS1R	USH2A	TMEM270	CFTR	FUZ	SIN3A	JMJD1C	SHQ1	MT-CO3	PROKR2	PDZD7	DNAJC6	HNRNPA1	ADNP	MT-TW	UFD1	ARID2	SDHAF2	EP300	MT-ND1
HP_APLASIA_OF_THE_MUSCULATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_MUSCULATURE	LMX1B	TBX5	TRPV4	REV3L	CHRNA1	MYMX	TBX3	CHRND	CHRNG	MYMK	PLXND1
HP_BROAD_ISCHIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_ISCHIA	LIFR	ALG9	EXTL3	TMEM53	COL11A1
HP_DUODENAL_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUODENAL_STENOSIS	BRCA1	BRCA2	TTC7A	FANCB	MAD2L2	FANCA	UBE2T	FANCM	FANCI	FANCE	FANCF	SLX4	FANCG	CDC45	BRIP1	ERCC4	FANCL	FOXF1	RAD51	RFWD3	RAD51C	XRCC2	PALB2	FANCC	FANCD2	STRA6	GATA1	RARB
HP_PALMAR_TELANGIECTASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALMAR_TELANGIECTASIA	SOX18	ACVRL1	SEMA4D	GPR35	LBR	MST1	TCF4
HP_ABNORMAL_PALM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PALM_MORPHOLOGY	KRT14	KRT1	EXTL3	TSEN2	TNNC1	IFT122	GDF5	KRT2	CTCF	ABCC9	SDHD	IFT43	NHP2	TGM1	GPC4	LBR	RIT1	C1R	LTBP4	DES	FLNA	COL11A1	DSG1	ALOX12B	FHL2	BMP4	RNU4ATAC	DYNC2I1	TERT	FBXO28	KRAS	DPYD	EHMT1	FGFR2	PRKAR1A	PIGL	DSP	PEX5	FZD2	WDR35	DPYSL5	MEGF8	TCF12	SEC23B	VPS51	COL7A1	ACTN2	SPECC1L	TRIM8	ARL3	PEX10	AAAS	STS	TCF4	ATP6V0A2	ALOXE3	CD4	GJB6	SMARCA2	NOP10	FBN1	TBL1XR1	ANKRD11	EXT1	PERP	B4GALT7	MED12	PARN	GPX4	SLURP1	RBM10	SMC1A	PTPRF	HNRNPR	ANKRD1	KRT5	TYMS	DYM	DPM1	BHLHA9	MUSK	KCNJ2	DSE	ADAMTS10	TUBA1A	CREBBP	FERMT1	LZTR1	DYNC2H1	ASXL2	MTX2	DVL1	FGF9	TRPS1	GLE1	PIEZO2	SCN5A	CSTA	GJA1	KRT16	YY1	KAT6B	NALCN	TMPO	NECTIN1	PTCH1	TSEN54	RIN2	VPS33B	SCUBE3	APC	IGF1	ASXL3	KATNB1	MYPN	HRAS	CTC1	GJB2	CTSC	TRPM4	RTL1	KRT9	PEX12	TRIO	POFUT1	PIK3CA	CHD7	FOXP1	SLC39A13	NPM1	MAP3K7	MCOLN1	INPP5K	ATR	AP1B1	CTSB	WAC	ATP2A2	GNB1	EVC	SLC2A10	RECQL4	GRIN1	FIG4	SRD5A3	KANSL1	ZC4H2	MAP1B	USB1	BAG3	GATAD1	KLHL15	TPM1	ROR2	PEX16	PTEN	CERS3	HCCS	ABCA12	KDM5C	RAD21	RHBDF2	LETM1	CPLX1	KDM4B	TMEM147	SNORD115-1	CSGALNACT1	SPTBN1	CAMTA1	NGLY1	CUL4B	KRT17	SDHB	COL17A1	DHX30	JUP	NAA20	STXBP1	PWRN1	POGLUT1	FKTN	GJB3	GNB2	NBAS	TTN	UBR7	WRAP53	TNNI3	NAA10	EVC2	SERPINB7	PRDM16	HNRNPK	PWAR1	ATP6V1B2	NSD2	SOX18	PNPLA6	UPF3B	SPRED2	MAP2K2	BAG5	PNPLA1	UBE3B	PACS1	TASP1	KCNK9	CDK10	TNNT2	TNNT3	SDR9C7	WNT5A	TGDS	LTBP1	CHST3	TCAP	AAGAB	CIB1	ADAMTSL1	TSEN34	CRYAB	SDHA	TOE1	B3GLCT	TBCE	WDR37	VPS13B	VAC14	ASXL1	RMRP	MBTPS2	SASH1	DOK7	EP300	RPS23	PEX6	TPM2	IFT57	AQP5	MAGEL2	IHH	PKP1	SIL1	COX7B	MYH3	XYLT1	CKAP2L	PPCS	PEX14	MCTP2	TMEM53	NDN	SET	GJB4	COG4	LORICRIN	COL2A1	NXN	GJA8	LAMA4	COG6	ENPP1	CSRP3	SNRPN	BRAF	ZNF462	MBD5	PRR12	BRF1	AUTS2	IFT80	PEX1	PSEN1	SMARCAD1	KANK2	RBM20	PUF60	KCNN3	SMAD2	PTDSS1	ITGB4	CDK19	GPR101	CILK1	PEPD	COL9A2	TBX4	LMNA	KDSR	PTH1R	RSPRY1	TRPV3	SDHC	ATP7A	PPP3CA	TERC	BRD4	CD28	ITCH	ACTC1	RPL10	GLYCTK	CAP2	POLRMT	CTLA4	AFF3	MKRN3	FGFR1	PEX3	HDAC6	MYOD1	RSPO1	KRT6C	FGD1	MEG3	BCOR	SLCO2A1	CTBP1	DVL3	TAF1A	TNFRSF1B	STAG1	DPH1	CLCN7	HDAC8	ARID1B	INPPL1	THOC2	HPGD	FGFRL1	AIP	TONSL	TAT	SMOC1	COL11A2	TRIP11	FLG	H4C9	G6PC3	GNS	WDR81	SHOC2	CEP57	SMPD4	TP63	PIK3R1	TINF2	RAI1	CAST	FGFR3	RTEL1	PLOD1	RBPJ	MRPS28	GPR35	MAPRE2	BGN	KLHL24	NDUFB11	KRT10	MYH6	AIFM1	NUP88	CRKL	TWIST1	PTCH2	RAB11B	PLN	DLX4	UBR1	CD96	DLK1	DMD	GATA1	SMAD4	PORCN	TRIM37	CYP4F22	MYBPC3	PSENEN	KRT83	FHL1	DYNC2I2	SUFU	YY1AP1	SERPINA12	CFTR	SLC25A12	CCBE1	DOCK6	PLAA	DDX11	HERC2	ZMYM2	WNT10A	PEX11B	TFAP2A	MAPK1	CEP55	PEX2	TXNRD2	ADAMTSL2	MRAS	TGM5	MYH7	LTBP3	KRT6B	POMP	NPAP1	ZNF292	SETBP1	CDC42BPB	BCR	NIPBL	DYNC1H1	ANTXR2	RIPK4	ZNF469	SNIP1	USF3	NLRP1	BMPR1B	SGCD	PPP2CA	VPS33A	TELO2	SNORD116-1	PLEC	DSG2	KRT6A	CAMK2G	TSEN15	DOLK	LMX1B	TAF6	ALDH6A1	KCNH1	NOG	ACVRL1	H3-3A	IVNS1ABP	CHSY1	POR	DKC1	LAMB3	PEX19	PDHA1	NIPAL4	ORC1	SMC3	SLC35C1	HDAC4	NEXN	NUP107	ESCO2	SNAP29	NEXMIF	SLC25A24	NUP188	KMT2B	TNNI2	TAFAZZIN	MEF2C	LONP1	PKDCC	RAB3GAP2	TRAPPC11	CDSN	PSEN2	SH3PXD2B	COX14	MST1	GJA5	PEX13	LIFR	VCL	CARD14	DPH2	DSC2	PEX26	PIGA	PLOD3	LAMA3	MSL3	COL14A1	PPP2R3C	LEMD3	SLC18A3	AKT1	GPC3	NECTIN4	DPAGT1	CRLF1	SEMA4D	HAND2	MTOR	SIN3A	NSDHL	OTUD5	LDB3	MAP2K1	RAPSN	MED25	OFD1	PIGS	DIS3L2	CHST14	KLLN	RAF1	GMPPA	ADNP	IGF1R	SMS	LAMC2	RPS6KA3	SEPSECS
HP_ABNORMALITY_OF_THE_PLANTAR_SKIN_OF_FOOT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PLANTAR_SKIN_OF_FOOT	KRT14	KRT1	CD28	ERCC6	TNNC1	GJB2	ACTC1	KRT2	CAP2	ABCC9	SDHD	CTLA4	AAGAB	NHP2	TGM1	RIT1	C1R	MBTPS2	DES	RSPO1	DSG1	ALOX12B	FHL2	KRT6C	TERT	KRAS	FGFR2	SLCO2A1	CSTA	ATP2A2	PIGL	TAF1A	DSP	TNFRSF1B	SEC23B	COL7A1	ACTN2	AAAS	STS	HPGD	ATP6V0A2	ALOXE3	SMARCAD1	AIP	TAT	CD4	GJB6	NOP10	TBL1XR1	RECQL4	PERP	B4GALT7	PARN	SLURP1	TP63	TINF2	CAST	LZTR1	ANKRD1	KRT5	MAP2K2	RTEL1	TRPV3	PIGQ	PLOD1	CREBBP	FERMT1	MTX2	KLHL24	KRT10	PLEC	PIGN	MYH6	SCN5A	KRT16	GJA1	PTCH2	TMPO	NECTIN1	PLN	PNPLA1	PTCH1	VPS33B	SERPINB7	DMD	MYPN	HRAS	USB1	CTC1	COG6	CTSC	TRPM4	PKP1	CYP4F22	KRT9	PIK3CA	MYBPC3	KRT83	NPM1	SOX18	MCOLN1	SUFU	AP1B1	SERPINA12	CTSB	CFTR	PLAA	PRKD1	WNT10A	FIG4	SRD5A3	BAG3	GATAD1	TXNRD2	TPM1	PTEN	MRAS	MYH7	ABCA12	KRT6B	POMP	RHBDF2	KRT17	SDHB	COL17A1	JUP	ZNF469	USF3	NLRP1	FKTN	GJB3	SGCD	TTN	WRAP53	TNNI3	PRDM16	HNRNPK	DSG2	KRT6A	BRAF	ATP6V1B2	DOLK	KCNH1	BAG5	IVNS1ABP	GJB4	DKC1	TNNT2	LAMB3	SDR9C7	NIPAL4	LMNA	KCNJ8	TCAP	NEXN	CRYAB	AKT1	SDHA	SNAP29	ASXL1	TYMS	TAFAZZIN	TRAPPC11	CDSN	PSEN2	SASH1	EP300	CYP27A1	VCL	CARD14	DSC2	AQP5	KDSR	PPCS	LAMA3	COL14A1	LEMD3	LORICRIN	LAMA4	ENPP1	CSRP3	CERS3	HAND2	MTOR	PSEN1	KANK2	RBM20	KCNN3	LDB3	MAP2K1	ANAPC1	ITGB4	GPR101	PEPD	KLLN	RAF1	GMPPA	LAMC2	SDHC	TERC
HP_THICK_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICK_HAIR	NEK1	CLDN1	KCNH1	VPS33A	MSTO1	VPS13B	INSR	KCNK4	NDUFAF6	ATP6V0A2	COG4	KCNN3	RUSC2	ATP6V1E1	ASXL1	SMC3	AFF4	ATP7A	ATP6V1A
HP_INFRA_ORBITAL_CREASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFRA_ORBITAL_CREASE	DHPS	MDH1	NAA10	PUS7	IARS2	LRP2	AARS1
HP_ENLARGED_OVARIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_OVARIES	PTEN	FSHR	AKT1	POR	KLLN	INSR	PIK3CA	CYP17A1	STK11	SDHD	ESR1	SDHB	CYP19A1	MID1	CYB5A	SDHC	USF3	SEC23B
HP_ABNORMALITY_OF_GLOBE_LOCATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_GLOBE_LOCATION	ODC1	LRP4	TBX1	TMCO1	HS6ST2	IL11RA	CTCF	HS2ST1	IFT43	PLCH1	FOXE3	CPLANE1	RPGRIP1	LBR	OTX2	GNE	ZNF699	KCNJ6	FAT4	RNU4ATAC	PTPN11	PRKAR1A	FAR1	AP3D1	PGAP1	FZD2	BRCC3	DPYSL5	MEGF8	SIX3	CTNND1	SPOP	TCF12	SEC24D	GP1BB	MAT2A	ADA2	MED13	ZIC3	TAPT1	CHSY1	ANKRD11	TGFBR2	WAC	RPS6KA3	DLL1	STAMBP	LARP7	NFIX	DICER1	FGF20	STIM1	NIN	RPS29	NRCAM	POLR3A	STAG1	LZTR1	TOPORS	SATB2	BRCA2	JAG1	LMNB1	DVL1	SMCHD1	HSD17B4	RPL35A	PRTN3	CHN1	PIGN	PSMD12	RUSC2	FGFR3	WARS2	TWIST1	MAFB	ERCC8	BBS7	GDF1	INTS8	TCF20	APC	NKX2-5	BPNT2	PTH1R	C12orf57	KIF7	FLII	ATAD3A	GATA6	KMT2A	HSPG2	KDM5C	PEX3	COG1	BAP1	KLHL41	BRPF1	CHD8	ATN1	CHD7	FGF8	RAI1	ATP6V1A	GJA5	POU4F1	RECQL4	GLI2	CLP1	GNRHR	TPRKB	PIK3R1	MOCS1	CDH2	FGF9	TRRAP	P4HB	EXT2	FBN1	PPP1CB	FGFR1	CAMTA1	NGLY1	ABCC9	ERMARD	EZH2	GABRD	KLF13	ZIC2	PTDSS1	LAS1L	SLC25A24	GALNT2	KCTD1	RPL26	SMARCB1	IGF1R	HDAC4	MEIS2	TCTN3	GSC	TCOF1	FUCA1	FREM1	TCF4	FARSB	UBE3B	KIDINS220	CBL	ACTB	SLC9A6	WNT5A	RSPO2	ALX3	INSR	B3GALT6	GPC3	FLT4	CCDC32	PAH	WDR37	SUFU	CTU2	TNFRSF11A	TCIRG1	POLR3GL	ASXL1	CCDC22	DVL3	DOK7	FGFR2	ALX4	WASF1	NOTCH2	PHF6	FLI1	PIGG	PGAP3	SHANK3	TTI2	MCTP2	SOX6	TMEM53	DYRK1A	KDR	NXN	PIGO	DCPS	BRAF	HYMAI	SRCAP	SPART	THRA	MASP1	TRIO	PITX2	MED25	PEPD	BCORL1	NGF	DISP1	TRAPPC9	NRAS	PHIP	CNOT3	ESCO2	VPS35L	HBA1	CASK	STIL	WDR4	POLRMT	SHOC2	NF1	ZMPSTE24	MAP3K7	MEG3	RYR1	GPKOW	AVP	CTBP1	RRAS2	CDK5RAP2	INPPL1	GREB1L	COL1A2	CCDC47	H4C3	MYOD1	TMEM231	NARS1	CPLX1	PEX1	ADK	DDX3X	PMM2	LEMD2	GRIA3	PDGFB	SIX2	PAX3	LMBR1	FLNA	PAICS	SMAD3	IFT81	TSHR	GON7	MYH3	TBCE	SUZ12	NUP88	FBXO31	PTCH2	PPP1R15B	DUSP6	RERE	PIGV	TMEM216	ACY1	SMAD4	ARCN1	WDR19	HACE1	KRAS	MUSK	HDAC8	OGT	FANCI	ERCC6	MLXIPL	TAOK1	ERCC4	B9D1	PTCH1	BPTF	MARS2	PHGDH	THOC6	MOCS2	MAPK1	AGL	ALG6	SKI	ROR2	RAB3GAP2	HNRNPK	FIBP	ERCC3	SH2B1	GATA4	ATRX	NUP133	LRP5	PLAGL1	PTRH2	NOVA2	SNRPN	STRADA	FAM20C	GPC4	PRMT7	KPTN	HIRA	PPP2CA	RPS19	CACNA1C	SLC1A4	PPP2R1A	KCNH1	BRCA1	SKIC2	COL11A1	ARVCF	ALX1	AP1S2	FANCF	TAFAZZIN	PAFAH1B1	CARS1	CKAP2L	PITX1	SOST	SMO	ITGA8	KMT2B	DPM1	BANF1	PARS2	MAP2K1	GNPTAB	TGIF1	CHD3	SH3PXD2B	MKS1	SEMA5A	PPP1R12A	RNF113A	TDGF1	KATNB1	LIFR	UBE2A	FANCM	NSD1	ZBTB18	UBE4B	ALG8	PIGW	PIGA	KCNMA1	CRB1	HPDL	ANKRD17	RPS17	DEF6	ATP6V0A2	SH3BP2	EPB41L1	ANK1	NAA10	MSX2	POR	COL2A1	KISS1R	PPP2R5D	NLRP3	COL3A1	PIGU	USP9X	RNF2	DDX59	EMC1	B3GAT3	FANCE	IGLL1	GAD1	NKX2-6	EFNB1	FAM149B1	CHST14	GFRA1	TMEM67	GTF2H5	EXTL3	COX5A	MEF2C	CTSK	FANCB	NSD2	DEAF1	UGDH	GPT2	CASZ1	KIAA0753	ADGRG6	IPO8	WASHC5	CANT1	RPS24	IFT140	COL11A2	PDHX	SPECC1L	TRIM8	FAM111A	RPS27	GLI3	TGDS	TBL1XR1	MMP2	RREB1	PLK4	TAF1	RIT1	SLC29A3	ADAMTS10	MED12L	KBTBD13	ASPM	HS6ST1	CDCA7	FOXH1	ASXL2	MTX2	PLCB3	CHRNG	NDP	NSUN2	CEP290	AGO2	SRC	PRDM16	TGFB2	KNSTRN	STAT3	COLEC11	MAN1B1	RAD51C	PIEZO2	POLR1A	SKIC3	RAF1	FOXP1	FARSA	FANCA	SMARCD1	MYPN	MED13L	EVC	PDE4D	SLC2A10	SLC37A4	PRKDC	CEP120	MID1	NUP107	LMNA	SOX9	SYNGAP1	SHH	CDKL5	SLC9A7	SPTBN1	ERF	KMT2E	TBC1D24	RTTN	CDC45	EVC2	ZMYND11	CDKN1C	OSGEP	SPRED2	OFD1	EPG5	EXOC2	CSGALNACT1	FOXC1	DNMT3A	P3H1	AP4S1	PIGY	CDK13	MMP23B	FLNB	AFF4	ERCC1	AKT1	ATP6AP1	POLA1	PSAT1	EP300	NEB	PROK2	TPM3	NFASC	TENM3	MFAP5	HBA2	THRB	COX8A	TLK2	OCRL	AUTS2	KCNN3	CILK1	ACOX1	RPS7	KCNQ1OT1	ANTXR1	RSPRY1	EIF5A	ADAT3	TP53RK	CLCN3	GLYCTK	AFF3	HIVEP2	CCBE1	TMEM107	SPEN	TRIP4	ELN	SMG9	ABCA12	MTOR	THUMPD1	PHACTR1	GATA2	NDE1	H4C9	WDR35	NODAL	CEP57	RPL15	PRPS1	RPL11	CHRNA7	CDC42	LRPPRC	EEF1A2	RARS2	NOTCH3	ELMO2	LETM1	DHCR7	FBXO11	PSMB8	MPLKIP	ZC4H2	TBCD	LUZP1	GRIN1	PIK3CD	TXNL4A	EED	ABL1	RPS10	EFEMP2	PEX6	TRIM37	PACS2	UBE3A	IGF2	TACR3	CNTN1	HELLS	GPAA1	SLC25A12	RALGAPA1	CENPJ	ZMYM2	NKX3-2	KCNQ1	XYLT1	CDH11	CSNK2A1	SEC23A	ALMS1	ZNF292	CDC42BPB	BCR	SLC39A14	ATP6V1E1	MYLK	KAT8	ZIC1	TELO2	COLEC10	CDON	ANAPC7	SALL4	CACNA1G	RAC3	FGF3	TARS1	IFT52	MAN2C1	CHST3	ITCH	FN1	DNM1L	PDGFRB	ASH1L	LRRC8A	HNRNPH2	IRX5	RAB3GAP1	PKDCC	TGFB3	PYCR2	SON	GJA1	GRIP1	PALB2	CYP27A1	VANGL2	B3GLCT	MSL3	DHX37	PIGL	CRIPT	HHAT	RTL1	SCNM1	CHRNA1	SLC35A1	SIN3A	TBR1	GAS1	TONSL	TGFB1	SEPTIN9	WDPCP	PROKR2	PTPN22	VSX1	GBA1	CD79A	ACBD5	LRP2	MN1	SEMA3E	YARS1	HECW2	ZBTB20	LTBP4	B9D2	ASXL3	ADAMTS3	FRAS1	EHMT1	CAMK2A	EDEM3	VPS51	COX7B	RPS28	ZEB2	B4GALT7	RBM10	KCNJ2	DSE	TUBA1A	TWIST2	CREBBP	DPH1	AP1G1	KAT6B	TGFBR1	ERGIC1	COL1A1	STAG2	MACF1	RUNX2	DPH5	HEY2	CSPP1	ZNF526	MAD2L2	SLC39A13	EBF3	BCAS3	PRDM13	BRIP1	SUPT16H	USB1	MAP2K2	MAN2B1	CRPPA	IL1RAPL1	DPM2	EXOSC2	PIGB	MAF	FOXF1	LAGE3	RET	ZBTB24	NBAS	HID1	UBR7	POLR1D	INTU	ATP6V1B2	GK	RB1	MTHFR	UMPS	COL5A1	MAPK8IP3	TRMT10A	VAC14	RPS15A	RIPK4	IFT122	ZMIZ1	SEC24C	WDR73	KNL1	MICU1	H4C11	GLB1	RBL2	SCN1A	ANKH	GJA8	TCF3	THSD4	PRR12	MYD88	ZFPM2	HRAS	FLCN	FANCC	ARNT2	PLEC	RPGRIP1L	KCNK4	BGN	QRICH1	KCNJ5	KIFBP	POLR1C	TCTN2	XRCC4	COL27A1	SSR4	GATA1	MBD5	ACTA2	THOC2	POLD1	FGFRL1	KATNIP	SPRED1	PAK3	OSTM1	PIK3CA	AHDC1	MRAS	BCL11B	IRF4	SMPD4	XYLT2	CHD4	FANCL	FH	ERCC2	PPP1R21	CRKL	DLX4	SLC45A1	SMC1A	CDH1	MED27	PRRX1	OPHN1	SMAD2	SOS1	BMPER	ALG13	DOCK6	CRTAP	MSTO1	TTC7A	BICRA	RPL18	CIT	XRCC2	RPL31	HEATR3	ALPL	TBX2	AARS1	TRIP13	B4GALT1	PDCD6IP	BMPR1A	TERT	TFAP2B	TPM2	PRKCZ	SETBP1	ALDH6A1	SPRY4	NSRP1	DLK1	H3-3A	AP3B2	FOCAD	PUF60	PTEN	ALG9	FGD1	SLC35C1	DCHS1	CD79B	ACTA1	PGAP2	SNAP29	RELN	RPS20	COX14	CCND2	TTC26	SCYL2	PYCR1	ORAI1	LEMD3	DYNC1I2	DHPS	SERPINH1	TBCK	TBX15	DDR2	NTNG2	COA3	JMJD1C	FANCG	RAPSN	CC2D2A	SMS	PCLO	PDZD8	SMARCE1	IARS2	AASS	ABCD4	UBE2T	HNRNPU	CNOT1	DPYD	NSMCE3	SHPK	SOS2	LIG4	MED12	KAT6A	RRAS	SUOX	NCDN	DNMT3B	SLC26A2	TMEM138	TCTN1	FREM2	IGHM	LOX	TXNDC15	PAK1	QARS1	PACS1	HLA-DPB1	SRD5A3	AGA	KIAA0586	WDR11	GTF2E2	RPL5	NF2	PDPN	SETD1A	GLE1	GATAD2B	POU1F1	FIG4	GATA5	TUBB	KANSL1	RFWD3	ACTG1	DPF2	PDE6D	IDUA	PRKAR1B	CCNK	EBP	TMEM147	ALKBH8	BLNK	GNB2	POGZ	TASP1	TBC1D20	CDK10	CENPF	DDB1	NSMF	LTBP1	AKT3	WNT9B	MGAT2	PRKACB	COMT	RSRC1	GNRH1	TRAF7	HUWE1	ZSWIM6	COL25A1	SET	COG4	RLIM	PRKG1	FGF17	ATXN3	HLA-DPA1	ZPR1	NONO	CDK19	TBX4	AMER1	BNC2	PPP3CA	FMR1	DCLRE1B	PLP1	ITGA3	ACTL6B	CTNND2	EXOC6B	RPS26	FANCD2	CLCN7	ALDH18A1	ARID1B	SIK3	GNS	KREMEN1	KDM1A	CLCN6	SMARCA2	POC1A	TMEM94	KISS1	CTLA4	CHRND	CITED2	MAPRE2	RPL27	TRIP12	CNTNAP2	SPINT2	AIFM1	IQSEC2	HYLS1	TMEM237	NALCN	DDX6	PUS7	BLTP1	TAC3	KCNAB2	TFE3	SIAH1	PIK3R2	TFAP2A	PEX2	NELFA	PRORP	EXOSC9	FKBP14	SLC12A6	NIPBL	YWHAE	MITF	H4C5	HMGA2	PRUNE1	TOGARAM1	TSR2	EIF2AK3	HERC1	KIF15	POLR1B	IL6ST	RAD21	DNAJC21	INTS1	RASA2	CAMK2B	GORAB	RMRP	SLX4	NTRK1	BMP2	POLR2A	PEX5	ALG1	PLOD3	SLC18A3	MYH11	RPL35	OTUD5	DIS3L2	RAD51	MRPS14	UFD1	BUB1B
HP_ABNORMALITY_OF_GLOBE_SIZE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_GLOBE_SIZE	PIGN	BCOR	EOGT	ALDH1A3	SEMA3E	FANCB	RARB	UBE2T	ALX1	RPGRIP1	ATOH7	ZNF699	HYLS1	FKTN	B9D2	B3GALNT2	KCNJ6	BMP4	NDUFB11	FRAS1	NDP	FZD4	GDF6	FKRP	FAM111A	FBXW11	GLI3	GP1BB	SMARCA2	CRYAA	TBL1XR1	ZEB2	DOCK6	ERCC4	GJA1	RREB1	PLK4	POMK	KCNJ1	HMX1	FANCC	DAG1	RPGRIP1L	TCTN1	SCN1A	CTNNB1	FREM2	PALB2	AP2M1	CHUK	KRAS	POMT1	PAX6	MFRP	YAP1	BRCA2	BEST1	ERCC5	SMCHD1	NOTCH1	TXNDC15	TRIP13	FREM1	TUBGCP4	CEP290	SMO	ERCC8	GDF3	KIF11	SHH	TBX1	MKS1	SRD5A3	GMPPB	C12orf57	RAD51C	NCAPG2	LARGE1	GTF2E2	POMGNT1	PTCH1	FOXL2	GLI2	FANCF	MAD2L2	TMTC3	ATN1	CHD7	FANCA	COL4A1	ATR	RECQL4	POMGNT2	BRIP1	VAX1	TUBB	CEP120	ERCC6	RFWD3	ACTG1	NUAK2	MT-CYB	RXYLT1	FOXE3	CRPPA	POMT2	HCCS	PHYH	BUB3	IKBKG	EBP	RERE	ALKBH8	COL2A1	SIX6	CHD2	MED12	RTTN	NAA10	POLR1D	TCTN3	TCOF1	INTU	BRCA1	TMEM67	TBC1D20	TSPAN12	CSPP1	DONSON	LRP5	MPLKIP	RBPJ	ARHGAP31	ALX3	CENPF	RB1	OTX2	FANCI	KIF15	WNT3	ADAMTSL1	TBX15	KERA	TBCE	WDR37	TMEM98	VAC14	COMT	ERCC1	AKT1	ABCB6	NRAS	FUT8	SEC24C	B4GAT1	ACTB	SPECC1L	COX7B	WDR26	KIF14	ALX4	SALL4	HRAS	MAPRE2	TENM3	RHOA	GJA8	LAMB2	RAX	OCRL	PRR12	RAB3GAP1	PUF60	PRSS56	FGFR2	SYNGAP1	DACT1	BUB1	ERCC2	STRA6	VPS35L	PEX7	HDAC6	VSX2	POLR1C	RAB18	TCTN2	FANCD2	ZNF408	SOX2	TMEM107	TKFC	DLL4	SMG9	PITX3	FGF3	FANCE	SMOC1	NHS	BUB1B	HMGB3	PDE6D	GLIS3	XYLT2	FOXC2	FANCL	GTF2H5	CTDP1	SBF2	MAB21L2	NEXMIF	VPS13B	RAB3GAP2	PIGV	SYCE1	TMEM237	MBTPS2	TMEM216	SMAD4	PORCN	WDR73	FBN1	KIF7	PIK3R2	SUFU	PCYT1A	B9D1	MSTO1	PHGDH	FGFR1	TFAP2A	PQBP1	DPYD	XRCC2	SLC2A1	PAX2	PTCH2	ESCO2	ERCC3	CPSF1	CEP57	ASPH	OSGEP	RIPK4	FIG4	MITF	HIRA	CAPN15	DOCK7	SETD5	ALDH6A1	CRB1	TOGARAM1	TWIST1	CHSY1	TARS1	ARVCF	PTEN	CHST3	SLC38A8	RBP4	PRIM1	SF3B2	POLR1B	CARS1	GNAQ	INTS1	SLC25A24	NUP188	SIX3	ARX	TMEM231	SH3PXD2B	COX14	RNF113A	GJA5	PIK3CA	GRIP1	LMBRD2	FANCM	SLX4	CASK	RBBP8	MED13L	FANCG	JAM3	CYP1B1	SIN3A	JMJD1C	TBR1	MAB21L1	B3GAT3	LRPAP1	PIEZO2	MED25	SALL1	CC2D2A	SLC6A1	RAD51	PXDN	UFD1	TUBGCP6	RSPO2
HP_RECTAL_POLYPOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECTAL_POLYPOSIS	SMAD4	GREM1	BMPR1A	ENG	MUTYH
HP_CONNECTIVE_TISSUE_NEVI	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONNECTIVE_TISSUE_NEVI	TSC1	IFNG	LEMD3	PTEN	TSC2	SLC25A24
HP_SCLEROSIS_OF_FINGER_PHALANX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCLEROSIS_OF_FINGER_PHALANX	TRPS1	SRCAP	NGLY1	ERCC6	EIF2AK3	ERCC8	TONSL	GJA1
HP_ENLARGED_SYLVIAN_CISTERN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_SYLVIAN_CISTERN	RAB3GAP2	PGAP1	SPATA5L1	ADGRG1	RAB3GAP1
HP_OPEN_OPERCULUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPEN_OPERCULUM	GCDH	CSPP1	KIAA0586	C2CD3	FH
HP_ABNORMAL_RENAL_MEDULLA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_MEDULLA_MORPHOLOGY	CEP290	DYNC2H1	DYNC2I2	IFT172	NPHP3	TMEM67	NPHP4	DHX16	WDR19	DYNC2I1	PBX1	DCDC2	TRIP11	SDCCAG8	IQCB1	NIPBL	DYNC2LI1	ZNF699	PDCD6IP	CEP41	MAPKBP1	IFT140	VPS33B	DZIP1L	CEP164	CRB2	GLIS2	CLCN7	IFT43	ZNF423	NPHP1	AHI1	COQ7	MUC1	CEP83	TMEM216	INVS	RPGRIP1L	IFNG	PDHA1	H4C3	BSND	TRAF3IP1	TTC21B	ANKS6	FAN1	XPNPEP3	IFT80	PKHD1	TMEM138	USP18	CEP120	AP2S1	JAG1	NEK8	TULP3	LONP1	TSC2	PAX2
HP_NARROW_FORAMEN_OBTURATORIUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_FORAMEN_OBTURATORIUM	CAV1	IRF5	KIAA0319L	CCN2	CCR6	HLA-DRB1
HP_SHYNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHYNESS	DPYD	FMR1	AP4M1	POLA1	NONO	AP4B1	C12orf4	SETD2	AP4E1	RLIM	AP4S1
HP_HYPERESTHESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERESTHESIA	NTRK1	GALC	PSAP	HRAS	UNC80	ATL1	NF2	NALCN	COL1A1
HP_ABNORMAL_SHAPE_OF_THE_PALPEBRAL_FISSURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SHAPE_OF_THE_PALPEBRAL_FISSURE	NPAP1	MAGEL2	BRCA2	SNRPN	FOXL2	KAT5	FANCB	KMT2C	NSD2	CLCN3	GON7	SNORD115-1	NSDHL	UBE2T	FANCM	STXBP1	MKRN3	OCA2	PWRN1	SLX4	BRF1	NDN	ERCC4	FANCL	ANKRD17	SNORD116-1	PWAR1	SIM1	RAD51C	KATNB1	LMX1B	FANCD2	UBE2A	BRCA1	RNF2	IFT74	MAD2L2	CHD1	FANCA	FANCI	FANCE	PUF60	FANCF	SYT1	FANCG	PMM2	KIF15	HERC2	BRIP1	EHMT1	PHIP	RAD51	RFWD3	XRCC2	MAPK1	HNRNPH2	PALB2	FANCC
HP_SLANTING_OF_THE_PALPEBRAL_FISSURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLANTING_OF_THE_PALPEBRAL_FISSURE	AMPD2	LRP2	MN1	ODC1	LRP4	TMCO1	HS6ST2	IL11RA	HS2ST1	EEF1A2	ZBTB20	GPC4	GABRA5	EP300	ZIC1	PURA	PIGY	RNU4ATAC	ASXL3	PTPN11	SETD2	EHMT1	CAMK2A	PGAP1	FZD2	DPYSL5	SPATA5L1	MEGF8	SPOP	NSD2	EDEM3	CCDC115	TSR2	SEC24D	GP1BB	CHD1	NTRK2	WAC	RPS6KA3	PCNT	SKI	UNC80	HNRNPR	TAF1	PALB2	TRAPPC14	DSE	ANKLE2	CREBBP	NRCAM	POLR3A	LZTR1	ZEB2	TNNI2	BRCA2	CACNA1A	LMNB1	DHODH	DVL1	HSD17B4	TRIP13	GLE1	DPH1	YWHAG	RIN2	KIF11	PPP2R5D	APC	CLTC	FLII	ATAD3A	TUBGCP2	DPH5	KDM5C	IGBP1	PEX3	COG1	BAP1	TRIO	ZNF526	MAD2L2	BRPF1	CHD8	CHD7	SLC39A13	EBF3	PQBP1	RAI1	ATP6V1A	NEK9	SLC30A9	PRDM13	MINPP1	BRIP1	SUPT16H	CDH2	COLEC11	DHCR24	SPEN	TRRAP	GABRA2	SETD1B	SATB2	MAP2K2	PPP1CB	IL1RAPL1	STAC3	FGFR1	MYCN	EXOSC2	SNORD115-1	PIGB	CAMTA1	DLG3	MAF	CUL4B	EZH2	DHX30	POLR1C	ADNP	GALNT2	SCN3A	NBN	IGF1R	UBR7	MEIS2	CHAMP1	POLR1D	HNRNPK	GSC	TCOF1	ATP6V1B2	FOXG1	TCF4	UBE3B	CBL	EFTUD2	NOTCH3	ACTB	WNT5A	CDH11	GPC3	KIF15	CCDC32	UMPS	COL5A1	CTU2	VPS13B	MAPK8IP3	MCPH1	TRMT10A	POLR1B	HCN1	COG7	VAC14	POLR3GL	ASXL1	CCDC22	DVL3	ZMIZ1	SEC24C	WASF1	NOTCH2	FLI1	PEX16	SON	PGAP3	H4C11	CKAP2L	MFSD2A	TTC8	SMC1A	MCTP2	C12orf57	SLC13A5	NXN	GJA8	PIGO	BRAF	ZNF462	SCAPER	PRR12	MRPS2	LDHD	ARV1	SPART	CEP290	HNRNPH1	FLCN	ACSL4	MED25	CEP63	FZR1	SYNJ1	HBB	BCORL1	RAF1	BUB1	FANCC	PHIP	ATP7A	CNOT3	VPS35L	HBA1	MGAT2	KAT5	SCN8A	COL9A3	CENPT	BGN	QRICH1	DOK7	MKRN3	NSD1	NECAP1	MYMK	MAP3K7	TRAPPC10	FGFR2	FGF13	MTSS2	AMMECR1	RRAS2	ATP1A3	SYNGAP1	SATB1	TBX1	NDUFS4	DHDDS	SMOC1	H4C3	MYOD1	ABCA5	SPRED1	PAK3	BUB1B	SHOC2	AHDC1	NARS1	MRAS	BCL11B	SMPD4	FGF12	CHD4	CPLX1	PEX1	FANCL	CLCN4	KRAS	PMM2	JAG1	AP3B1	OTUD6B	FLNA	PEX6	STEEP1	TRAIP	PPP1R21	PEX19	CFAP418	DOCK3	SLC19A3	FAM20C	PEX7	SUZ12	BBS1	FBXO31	PPP1R15B	NF1	RERE	DLX4	SLC45A1	PIGV	SIN3A	PPP3CA	SDCCAG8	ARCN1	KDM1A	RECQL4	UBE2A	PEX13	TGFB3	NECTIN1	SOS1	FBN1	COPB2	GABRB2	FANCI	PIGG	DONSON	ATP1A2	TOE1	BPTF	DEAF1	HERC2	PIGN	TSPEAR	THOC6	BICRA	CHD5	XRCC2	CENPE	HEATR3	ROR2	MYH3	FIBP	GATA4	KCNA2	TBX6	NOVA2	SNRPN	OSGEP	TRIM32	BMPR1A	PEX11B	TWIST2	KPTN	HIRA	RPS19	AP4E1	OFD1	TFAP2B	PEX12	SETD5	ALDH6A1	ADAT3	KCNH1	NOG	NSRP1	MKKS	NUP85	BRCA1	H3-3A	PPP2R1A	CEP152	WASHC5	ARVCF	PUF60	SF3B4	PTEN	RDH11	ALG2	FGD1	FANCF	PAFAH1B1	SETBP1	PITX1	WWOX	PGAP2	CERT1	SNAP29	NEXMIF	SLC25A24	PEX2	KCNB1	DPM1	MEF2C	PARS2	OGDHL	MAP2K1	SH3PXD2B	SEMA5A	PPP1R12A	CWC27	GJA5	CHST14	P4HB	LMBRD2	FANCM	TTC26	PIGW	PYCR1	PLK4	PIGA	DYNC1I2	KCNMA1	ANKRD17	CASK	ATP6V0A2	ANK1	NAA10	WDR35	COL3A1	CYFIP2	JMJD1C	B3GAT3	FANCE	GAD1	ORC6	FANCG	EFNB1	PEX26	NONO	CTBP1	TBCK	SC5D	BBIP1	CHRNG	SZT2	KAT6B	FANCB	STIL	FBXL4	SASS6	NSDHL	UBE2T	DNM1	HNRNPU	RIT1	PHC1	CACNA2D1	CDK19	IDH1	CEP19	DPYD	MVK	IFT140	COL11A2	SPECC1L	DHCR7	GLI3	NPHP1	BBS5	KIF14	SOS2	ZMPSTE24	MED12	RREB1	NALCN	RRAS	BMP2	ACTL6B	KDM5B	CD96	PHOX2B	MED12L	GJA1	PSMD12	YY1	AGO2	TGFB2	PACS1	C2CD3	MAN1B1	RAD51C	HRAS	SKIC3	APC2	ADAMTS2	CENPJ	CDC42	FOXP1	FANCA	ATR	MED13L	SETD1A	PRRX1	GATAD2B	FIG4	TUBB	KANSL1	XRCC4	NCAPD3	ZC4H2	RFWD3	DPF2	MID1	CIT	ZNF148	ZIC2	BBS2	TAF13	PRKAR1B	SLC9A7	BUB3	KDM4B	EBP	TMEM147	CSGALNACT1	SPTBN1	TFAP2A	KIF7	KMT2E	ADAMTS3	NAA20	PWRN1	NRAS	RTTN	GNB2	FGFR3	PWAR1	PAX3	ZMYND11	GMNN	ARHGEF2	SPRED2	CNOT2	TASP1	EXOC2	RAPSN	CDK10	SMS	CDK6	DDB1	PEX5	LTBP1	UQCC2	ADARB1	B3GLCT	NFIB	ATRX	CDK13	AARS1	MECP2	TRAK1	CDK5RAP2	POLR1A	COMT	PDGFRB	AFF4	ANKRD11	AKT1	KIFBP	POLA1	ASPM	IFT27	IFT57	PHF8	ATRIP	MAGEL2	CHRNA7	PIGT	ALX4	AP1S1	HUWE1	ERCC4	ZSWIM6	SET	HBA2	CEP135	SLC29A3	RBBP8	RLIM	TLK2	OCRL	SMARCA2	BBS4	AUTS2	PLPBP	CELF2	KCNN3	KCNE5	POGZ	NFIX	EIF5A	CLCN3	SOX5	MYMX	MPDZ	HIVEP2	CTNND2	LMNA	DDX59	CACNA1B	BBS10	BBS12	MCM7	PYCR2	TNRC6B	AP3B2	CNKSR2	ARID1B	MTOR	COL11A1	LZTFL1	THUMPD1	H4C9	CEP57	UBE3A	PRPS1	MAPK1	ACTG1	TWIST1	PLOD1	DMXL2	SLC2A10	MAPRE2	WDPCP	BCL11A	TRIP12	CNTNAP2	SLC38A3	MASP1	LETM1	KNL1	FBXO11	IQSEC2	RAB11B	TBCD	DYRK1A	EED	MKS1	FANCD2	EFEMP2	GATA1	PACS2	PUS7	BLTP1	TUBB3	FHL1	TFE3	SIAH1	ZMYM2	ALDH1A2	WDR62	RNF135	NELFA	HHAT	ADAMTSL2	NPAP1	ESCO2	ZNF292	CDC42BPB	ASPH	ATP6V1E1	DYNC1H1	RIPK4	PTCH1	NR2F1	YWHAE	KAT8	PCDHGC4	LIG4	TELO2	COLEC10	H4C5	SNORD116-1	CACNA1G	IFT74	DALRD3	FGF3	CHST3	TOR1A	PEX10	EIF2AK3	HDAC4	HERC1	ARL6	IL6ST	RAD21	DNAJC21	RASA2	GABRG2	PKDCC	RAB3GAP2	ABAT	DYNC2LI1	PIK3CA	PEX14	IFT172	TMEM237	SLX4	GRIN2D	BBS7	MSL3	USP9X	BBS9	PIGL	SIM1	SCNM1	COPB1	METTL5	GABBR2	TBR1	OTUD5	UBA5	NUS1	RYR1	SLC1A2	SEPTIN9	RPS28	RAD51	UFD1	ARID2	KMT2A
HP_ABNORMAL_SIZE_OF_THE_PALPEBRAL_FISSURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SIZE_OF_THE_PALPEBRAL_FISSURES	EIF5A	PCLO	ERCC6	MECP2	GABRA3	ODC1	FANCB	VPS37D	BMP1	UBE2T	UGDH	RBMX	AFF3	LMNA	KCNJ5	RAB18	IPO8	PIGY	FANCD2	PAX3	FAT4	MEG3	GPKOW	FBXO28	KRAS	SALL4	RECQL4	KDM6A	PIGV	METTL27	DVL3	FZD2	ELN	SPOP	EDEM3	INPPL1	TBC1D2B	WNT5A	MED13	SMOC1	SMARCA2	TBL1XR1	LIG4	GTF2IRD1	ANKRD11	WAC	ZMPSTE24	GJA1	BCL11B	CEP57	SMPD4	RBM10	CHD4	LARP7	DGCR6	HNRNPR	SNX14	OTUD6B	MYL11	HSPG2	MAP2K2	ACTG1	KCNJ2	PALB2	ZBTB18	MYCN	SLC6A17	RBPJ	CREBBP	DDR2	BCL7B	SLC2A10	MLXIPL	MAPRE2	BRCA2	LMNB1	DVL1	MAPKAPK5	TRIP12	NCF1	CHN1	MASP1	B9D2	MYH3	NSUN2	CRKL	SMO	SLX4	TBX1	RERE	PURA	COLEC11	FKBP6	HDAC4	RAD51C	SMAD4	TXNL4A	PIEZO2	RAC1	DLK1	RFC2	KMT2A	HNRNPK	EFEMP2	DPH5	POLR1A	DDX6	KAT6B	TBL2	FOXL2	ZFHX4	RTL1	TGFB3	POLR3A	MAD2L2	MUSK	BRPF1	GTF2I	FOXP1	FANCA	PIK3R2	FANCI	ATR	PIGO	ATP6V1A	CLP1	RNU4ATAC	MAFB	GATAD2B	PDE4D	DOCK6	BPTF	CLIP2	ZMYM2	BRIP1	THOC6	MOGS	TUBB	KANSL1	BICRA	MAPK1	CEP55	SPEN	STRA6	GPC6	RFWD3	TMEM107	XRCC2	NUAK2	ROR2	STX1A	ZNF148	AUTS2	UBE3B	DNAJC30	KPTN	SOX9	PRKAR1B	PCGF2	CCNK	ESS2	EXOSC2	DGCR2	KDM4B	CDC42BPB	SPTBN1	PCNT	CUL4B	ERMARD	BCR	RIPK4	MED12	ADNP	GNB2	KCTD1	COLEC10	H4C5	BRAF	CACNA1G	KMT2D	CAMK2G	SETD5	FOXG1	SOX11	BRCA1	AP3B2	MADD	STAC3	CEP152	ACTB	DNMT3A	DGCR8	PYCR1	DONSON	RPL10	SCARF2	ORC1	DDB1	ALG14	ALDH1A3	PRIM1	FANCF	SF3B2	TBX15	DCHS1	KIF15	TRMT1	BUD23	SETBP1	SRCAP	NFIB	PRMT7	INTS1	PGAP2	CDK13	MAPK8IP3	SLC25A24	COG7	HNRNPH2	IRX5	BAZ1B	TP63	ERCC1	PHF6	FTSJ1	POLA1	PPP1R12A	STT3A	GJA5	LIFR	EP300	LMBRD2	FANCM	PGM3	BCOR	EIF4H	B3GLCT	PIGW	ALX4	GTF2IRD2	HUWE1	LIMK1	ERCC4	FANCL	USP9X	PGAP3	MCTP2	SOX6	TENM3	ANK1	HHAT	RHOA	NXN	GJA8	ARX	WDR35	TLK2	TMEM270	PRR12	SIN3A	MAGEL2	FANCE	PUF60	MAP2K1	FANCG	HNRNPH1	SEPTIN9	CLTCL1	SALL1	RAD51	FIBP	DACT1	COL25A1	FANCC	ARID2	PIGL
HP_ABNORMAL_LENGTH_OF_CORPUS_CALLOSUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LENGTH_OF_CORPUS_CALLOSUM	ITGB6	AHSG	TAF8	PDHB	LSS	SLC35A2
HP_NEOPLASM_OF_FATTY_TISSUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_FATTY_TISSUE	SPRED1	AKT1	PIK3CA	MEN1	LEMD3	MT-TH	MT-TF	APC	SDHD	SDHB	FUZ	PTEN	TBXT	ABCC6	RPL10	BMPR1A	USF3	VANGL1	FLCN	MT-TK	ZSWIM6	KRAS	CDKN1B	MSTO1	ENPP1	MT-RNR1	CDKN1A	SEC23B	ALX3	MT-TP	MFN2	CDC73	FGFR1	MT-TQ	ALX1	MT-TL1	CCL2	VANGL2	KLLN	TAF1	MT-ND5	AP2S1	CDKN2C	CDKN2B	GNA11	SDHC	MT-TS2
HP_CORNEAL_EROSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORNEAL_EROSION	KIFBP	COL4A5	FERMT1	COL4A4	TWIST2	TGFBI	GJB2	HLA-B	SLC39A4	COL7A1	PRDM5	CHST6	MMP1	SPINT2	FGFR2	TP63	FGFR3	PLCG2	ALDH3A2	COL4A3	PERCC1	ALOX12B	FGF10	IKZF1	ABCA12	MPV17	PAX6	ALOXE3	CERS3	CTNS	PNPLA1	ZNF469	NTRK1	NIPAL4	COL17A1	MBTPS2	FOXC2	WT1	ELP1	CLTCL1	EPCAM	TGM1	KRT3	GJB6
HP_DOWN_SLOPING_SHOULDERS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DOWN_SLOPING_SHOULDERS	DNAJC30	BCL7B	PTCH2	MLXIPL	GABRA3	VPS37D	LMNA	CHRNG	NCF1	CUL4B	LMBRD2	PIEZO2	SPRTN	PPP1R15B	EYA1	EIF4H	BCOR	OTUD6B	GTF2IRD2	LIMK1	NAA10	FKBP6	TRPV4	METTL27	RFC2	ELN	TBL2	PTCH1	TMEM270	GTF2I	CHD7	EFNB1	TBX5	SUFU	GTF2IRD1	RUNX2	PAX1	BUD23	CLIP2	FIG4	TRMT10A	IRX5	STX1A	BAZ1B	ATP7A
HP_OCULAR_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCULAR_PAIN	SCN9A	GNA11	TGFBI	ZEB1	BAP1	CHST6	SLC39A14	TCF4	COL17A1	GNAQ	AGBL1	COL8A2	SLC4A11	CTNS	SF3B1	OVOL2	CYSLTR2	VSX1	GRHL2
HP_VASCULITIS_IN_THE_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VASCULITIS_IN_THE_SKIN	SYK	TREX1	ARPC1B	IL12RB1	PGM3
HP_PAPULE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAPULE	NOD2	GJB2	SDHD	SDHB	COL5A2	ELOVL4	IL10	GGCX	KRT5	PTEN	POGLUT1	USF3	HLA-B	IDH1	TLR4	MVK	IL7	ABCC6	AEBP1	GNAQ	C4A	ATP2A2	ECM1	XYLT1	IL12A	SEC23B	STAT4	EGFR	ERCC4	DCLRE1C	IL23R	CLEC7A	BRAF	FLNA	MEFV	PIGA	MBTPS2	KRT14	AAGAB	CIB1	GNAS	ZMPSTE24	TMC8	COL7A1	GJB6	XYLT2	HAVCR2	CTLA4	ERAP1	LDHA	TMC6	SLC17A9	LRP1	PRTN3	STAT3	CCR1	CSTA	CARD14	LPIN2	AQP5	TRAF3IP2	GLMN	FLCN	IFNGR1	IL17RA	HLA-DPB1	COL14A1	LEMD3	AKT1	KIT	NF1	KLRC4	NLRP3	PLEC	POFUT1	PIK3CA	PSENEN	HLA-DPA1	NAGA	UBAC2	CFTR	IL17F	CYLD	COL1A1	PEPD	KLLN	COL5A1	PTPN22	ANTXR2	IL17RC	IL12A-AS1	LMNA	SDHC	FAS	TGM5
HP_SKIN_PLAQUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_PLAQUE	TRPM4	LDHA	SDHD	TMC6	CTLA4	COL2A1	EBP	COL7A1	GJB2	LAMA3	KRT83	RASA1	CARD14	LAMC2	ECM1	LAMB3	HLA-DRB1	PSMB8	TNFRSF1B	UBA1	CFTR	KRT14	MEFV	CIB1	GLMN	TMC8	CD28	IDH1	TSC2	IFNG	TSC1	IL7	MPDU1	BTNL2	ATP2A2	KRT5	ADA2	LORICRIN	KIT	HAVCR2	GJB6	KDSR
HP_SKIN_NODULE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_NODULE	SPRED1	B2M	BCL2	ASAH1	GNAS	TSC1	SDHD	APC	SDHB	COL5A2	COL3A1	IL10	ACVR1	GLS	PDGFRB	ABCA1	ANTXR2	PTEN	USF3	HLA-B	TLR4	IL12B	HMGA2	MC1R	MLX	FGFR2	KRAS	CTNNB1	OCRL	C4A	POMP	ECM1	ENPP1	SLC37A4	IL12A	SEC23B	STAT4	IL23R	BCL6	GLA	BRAF	APOE	CDK4	MEFV	FGFR1	GJB2	IFNG	MMP2	PDGFB	HLA-DRB1	TNFRSF11A	IARS2	IDH1	FBN1	COL7A1	CYLD	ERAP1	GJB6	TNFRSF11B	AKT1	PPP1R17	LEMD3	NOTCH3	LPL	GHR	ATP2A2	MDM2	CCR1	MYSM1	NRAS	ABCC6	GLMN	APOA1	IFNGR1	KIF11	G6PC1	KIT	CYP27A1	FERMT3	KLRC4	LDLR	TTPA	PORCN	COL1A1	EPHX2	PIK3CA	RAF1	PTH1R	NAGA	FUS	PDE11A	MMP14	UBAC2	APOB	PCSK9	PRKAR1A	DDIT3	SALL1	KLLN	COL5A1	INSR	APOA2	IDH2	PTPN11	BTNL2	ABCG8	IL12A-AS1	DACT1	KIF1B	SDHC	FAS	TEK	TSC2
HP_SKIN_VESICLE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_VESICLE	ATP2C1	PLEC	DKC1	POFUT1	PSENEN	ATP2A2	NPM1	NHP2	STAT3	SLC35C1	POGLUT1	MEFV	NOP10	PARN	KRT5	TINF2	WRAP53	TERT	PPOX	RTEL1	COL7A1	USB1	TYMS	DSC3	CTC1	TERC
HP_PUSTULE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PUSTULE	EGFR	LDHA	TMC6	CTSB	ADAM17	IL1RN	SLC39A4	STING1	SCNN1G	CARD14	LPIN2	SCNN1A	IL36RN	HLA-B	MEFV	PSTPIP1	CIB1	TMC8	IL17RA	SCNN1B	MRTFA	IL7	ECM1	CTSC	JAK3
HP_EPIDERMOID_CYST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIDERMOID_CYST	KRT6B	KRT17	CEP57	KRT16	TSC2	APC	IFNG	ANTXR1	CDH1	TSC1	POFUT1	PSENEN	KRT6A	CTNND1	POGLUT1	KRT5
HP_SKIN_EROSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_EROSION	ATP2C1	GNA11	ITGB4	COL7A1	LAMA3	NAXE	LAMC2	UROD	CSTA	EPHB4	ECM1	LAMB3	ZMPSTE24	KRT14	LMNA	GATA1	DSP	UROS	PLEC	PPOX	KRT5	KIT	COL2A1	ARL6IP6	TGM5
HP_SKIN_ULCER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_ULCER	ELANE	NOD2	WIPF1	PERP	CTLA4	ATL3	HLA-DRB1	GBE1	SLC39A4	NGF	NFKB1	DLL4	CCN2	EPHB4	PDGFRB	ANTXR2	CLPB	SPTLC2	CCR6	BTK	WRAP53	IL12B	TERT	MLX	CAV1	AK2	GNAQ	KIAA0319L	TAPBP	ITGB2	SPTA1	TREX1	TP53	SPTLC1	MEFV	GFI1	DKC1	CLEC7A	NCF1	SPTB	ITGB4	EPB42	BRAF	NHP2	TAP2	NCF2	KRT1	HLA-B	PDGFB	NR3C1	TNFRSF1B	NOP10	PSTPIP1	LBR	PARN	CYBA	KRT10	IDH1	IRF5	PTPN22	TCIRG1	TINF2	CYBB	BMS1	SRP54	SLC4A1	CCT5	RTEL1	RETREG1	HAVCR2	TYMS	UBA2	DOCK8	HBB	PLEC	SBF2	WNK1	NOTCH3	TAP1	NOTCH2	PRTN3	WDR1	ATRX	STAT3	USP8	CYBC1	AQP5	PGM3	TRAF3IP2	CD28	LAMA3	IL17RA	HLA-DPB1	MBTPS2	LYST	PIGL	KIF11	ADA2	MPV17	USB1	CTC1	TP63	WAS	OCRL	COL1A1	ANK1	TRPV3	OTULIN	COL3A1	NTRK1	WRN	SCN9A	HLA-DPA1	NPM1	PTH1R	RASA1	F12	IL17F	CDH23	PROS1	P4HA2	PEPD	KIF1A	USP48	IL17RC	IDH2	LMNA	GBA1	NCF4	ATL1	TERC	IKBKG
HP_VERRUCAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERRUCAE	IGHM	TMC6	IVNS1ABP	CD4	GATA2	BLNK	CXCR4	IGLL1	STK4	SASH3	CIB1	DCLRE1C	FCN3	PIK3R1	RHOH	TCF3	CARMIL2	TMC8	CD79B	IL7	ATP2A2	ECM1	LRRC8A	DOCK8	CD79A	IKBKG
HP_POROKERATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POROKERATOSIS	ANAPC1	PMVK	SLC17A9	MVK	MVD	FDPS	RNU12	RECQL4
HP_CYANOTIC_EPISODE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CYANOTIC_EPISODE	PCDH19	PSAT1	GABRA1	SCN2A	SCN9A	GABRG2	SCN1B	SCN1A
HP_UPPER_LIMB_HYPERTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_LIMB_HYPERTONIA	MTPAP	TSEN34	TSEN2	TSEN54	TSEN15	CLDN11	VPS37A	SEPSECS	SPG7
HP_SMALL_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_HAND	BRD4	PPM1D	NPAP1	RAD21	MEG3	PCGF2	NSUN2	CTSK	HTT	CUL4B	SNORD115-1	SNRPN	NGLY1	CDKL5	DLK1	KDM6A	KMT2D	MKRN3	PWRN1	RTL1	CTNND2	COL11A1	KCNJ5	LAS1L	ADNP	MIR140	GALNT2	IGF1R	TELO2	FBXO28	SNORD116-1	SLCO2A1	PWAR1	IGF2	EVC	XYLT1	DPH1	SATB1	MAGEL2	TCF4	SPECC1L	HDAC8	CSGALNACT1	HPGD	CDK10	WNT5A	ORC1	FBN1	FGD1	SMC3	LIG4	COG1	MECP2	GABBR2	PRIM1	HDAC4	NALCN	WDR81	CENPE	POC1A	UNC80	SMC1A	TBCE	USP7	FAM50A	MAPK8IP3	DPM1	KCNJ2	RMRP	CHUK	AFF4	OCA2	SLC6A17	KIFBP	GJA1	SATB2	SEMA5A	DVL1	SON	CANT1	NTNG1	FBXO11	NIPBL	HUWE1	EVC2	NDN	USP9X	SIN3A	MCTP2	COG4	KIF5C	TRPV4	RNF2	FGFR2	COL3A1	TUBB3	WRN	SMARCD1	ALG13	PUM1	CCBE1	RECQL4	BPTF	HERC2	PIGN	SIM1	ROR2	CNOT3	FMR1	LTBP3
HP_MACULAR_SCAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_SCAR	SH3BP2	HLA-A	CFI	NMNAT1	TNFRSF11B
HP_COLORECTAL_POLYPOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COLORECTAL_POLYPOSIS	RNF43	POLD1	PIK3CA	MUTYH	SDHD	POLE	SDHB	BMPR1A	DICER1	TP53	CHEK2	MDM2	USF3	PTEN	APC	KEAP1	KLLN	MSH3	CDKN2A	GREM1	AKT1	AXIN2	SDHC	SEC23B
HP_CHORIORETINAL_DEGENERATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHORIORETINAL_DEGENERATION	GUCY2D	FSCN2	LCA5	DPP6	RPE65	ZEB1	NDE1	PRPH2	TEAD1	NRL	SLC25A15	OAT	ADAMTS18	ROM1	CYP4V2	CRB1	ZNF408	OVOL2	FZD4	GUCA1A	VCAN	PNPLA6	CHM	RNU7-1	COL8A2	TIMP3	COL18A1	LRAT	ACVRL1	EFEMP1	CRX	TSPAN12	RP2	EYS	LRP5	C1QTNF5	CLCN2	CFI	HADHA	HMX1	SAG	POU3F4	CFH	JAG1	SPATA7	CTNNB1	VSX1	GRHL2	NDP	PAX2
HP_RECURRENT_SPONTANEOUS_ABORTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_SPONTANEOUS_ABORTION	SYCP3	SERPINC1	F2	HTR1A	F13A1	F12	F5	ABCC6	F13B	ENPP1	ANXA5	C11orf80
HP_RESPIRATORY_INSUFFICIENCY_DUE_TO_DEFECTIVE_CILIARY_CLEARANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESPIRATORY_INSUFFICIENCY_DUE_TO_DEFECTIVE_CILIARY_CLEARANCE	ZMYND10	ODAD2	DNAAF11	SPAG1	DNAAF5	ODAD1	CCDC65	CFAP298	ODAD3	HYDIN
HP_GIANT_CELL_HEPATITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GIANT_CELL_HEPATITIS	VPS33B	AMACR	AKR1D1	HSD3B7	VIPAS39
HP_LIMB_TREMOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_TREMOR	LMNB1	ANO3	UBE3A	ITPR1	MPZ	SLC12A6	CACNA1G	CARS2	SNRPN	CDC42BPB	ITPA	GRIA3	PGAP1	TUBB4A	DDC	PEX16	PMP22	PLA2G6	COL6A3	CIZ1
HP_ORAL_MUCOSAL_BLISTERS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORAL_MUCOSAL_BLISTERS	COL7A1	ITGB4	LAMB3	PLEC	LAMA3	COL17A1	KRT5	MMP1	ITGA6	KRT14	LAMC2	DSG3
HP_ABSENT_SKIN_PIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_SKIN_PIGMENTATION	KIT	MC1R	TYRP1	SNAI2	TYR	OCA2
HP_DECREASED_ABSENT_ANKLE_REFLEXES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_ABSENT_ANKLE_REFLEXES	ALDH18A1	REEP1	SLC25A4	DYSF	OPA3	SACS	OPA1	MFN2	SQSTM1	CADM3	HINT1	PGM3	C19orf12	MYOT	TOR1A	AARS1	XK	NEFL	SIGMAR1	SMN1	KLHL9	ATP6AP2	HARS1	MORC2	PMP2	ARL6IP1	MRE11	TWNK	RRM2B	POLG	PDK3	VCP	POLG2	KLC2	ATXN3	SMN2	RAB7A	RAI1	HSPB3	PEX10	GNE	PLEKHG4	GJB1	VPS13A	GBE1
HP_SPARSE_OR_ABSENT_EYELASHES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPARSE_OR_ABSENT_EYELASHES	JUP	TWIST2	ODC1	ITGA3	EBP	GJB2	ALX1	NHP2	LMNA	EDNRA	RIPK4	EDARADD	FIG4	EDAR	NF1	CDH3	POLR1C	POLR1D	KRAS	RNU12	TCOF1	LSS	BRAF	HOXC13	SOX18	DSC3	MAP2K2	CWC27	B4GALT7	TSR2	APCDD1	HR	KRT74	ANAPC1	KRT85	SF3B4	MPLKIP	GJB6	NOP10	EDA	RECQL4	KREMEN1	ZMPSTE24	MBTPS2	POLR1B	SMARCA2	TP63	RMRP	KRT25	ANTXR1	TRPS1	RPL21	TYMS	CST6	SPINK5	BLM	VAC14	IRX5	DSP	MTX2	BANF1	GJA1	FRAS1	LRP1	GTPBP2	CLDN1	LIPH	SNRPE	DPH1	HRURF	DSG4	NECTIN1	DLX4	ALX4	EPS8L3	KRT71	ST14	COL11A1	WDR35	NECTIN4	DPH5	LPAR6	PKP1	POLR3A	DKC1	KANK2	RNU4ATAC	DOLK	MAP2K1	PHGDH
HP_METABOLIC_ALKALOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METABOLIC_ALKALOSIS	NR3C1	CACNA1D	CLCNKB	HSD11B2	SCNN1B	KCNJ10	HLA-B	KCNJ5	BSND	SCNN1A	KCNJ1	SCNN1G	CLCNKA	IKZF1	SLC12A1	NARS2	SLC26A3	CLCN2	SLC12A3
HP_RECURRENT_UPPER_AND_LOWER_RESPIRATORY_TRACT_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_UPPER_AND_LOWER_RESPIRATORY_TRACT_INFECTIONS	UNG	SCNN1B	AICDA	USP9X	GLI3	MGAT2	MDFIC	RAG2	SCNN1G	ZAP70	SCNN1A	DCLRE1C	RAG1
HP_CHRONIC_HEPATITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_HEPATITIS	SKIC2	RFXAP	CD40LG	PGM1	ALMS1	IL21R	RFXANK	CIITA	AIRE	HBB	RFX5	C4B
HP_CHRONIC_HEPATITIS_DUE_TO_CRYPTOSPORIDIUM_INFECTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_HEPATITIS_DUE_TO_CRYPTOSPORIDIUM_INFECTION	RFXAP	IL21R	RFXANK	CIITA	RFX5
HP_MITOCHONDRIAL_RESPIRATORY_CHAIN_DEFECTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MITOCHONDRIAL_RESPIRATORY_CHAIN_DEFECTS	MT-ND6	PREPL	MT-ATP6	PNPT1	SLC3A1	CAMKMT	MT-CYB	MT-ND4	MT-CO1	MT-ND1	MT-ND4L	FBXL4	TRMU	DNAJC30	PPM1B	MT-ND5	CYP27A1	NDUFS2	MT-ND2	MT-CO3
HP_BIVENTRICULAR_HYPERTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIVENTRICULAR_HYPERTROPHY	PRKAG2	ATP6V1E1	NDUFA11	MYH7	MYL2	TALDO1	MYRF	CACNA1D	TNNC1	DEF6	ALG12
HP_EPILEPTIC_ENCEPHALOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPILEPTIC_ENCEPHALOPATHY	DPM2	CACNA1A	SZT2	RNF13	CACNA1E	SYNJ1	SLC25A22	SLC38A3	UGDH	CARS2	KCNT1	AFF3	KMT2E	CDKL5	CHD2	FGF12	GABRG2	KCNQ5	GABRB3	DENND5A	HCN1	SIK1	CYFIP2	NECAP1	GRIN1	SLC13A5	KCNQ2	SCN1B	STAG1	GABBR2	ADAM22	CACNA1B	AP3B2	DNM1	FCSK	ST3GAL3	ALG9	BOLA3	TBC1D24	PHACTR1	EEF1A2	DNM1L	CACNA2D2	ARHGEF9	ARV1	DHDDS	CELF2	CLCN4	HNRNPR	CAD	SCN3A	SYNGAP1	FRRS1L	SCN1A	GRIN2D	DPAGT1	GUF1	SCN8A	AP2M1	ARX	MEF2C	CNPY3	PARS2	CUX2	SLC35A2	NEXMIF	PMPCB	GRIN2A	STXBP1	GLS	KCNB1	GNAO1	PLCB1	GRIN2B	ATP6V1A	KCNC2	AARS1	GABRA1	PIGA	NSF	SPTAN1	NRXN1	MDH2	NAPB	KCNT2	CPLX1	KCNA2	GABRB1	NEUROD2	MDH1	COQ4	PACS2	CHKA	SCN2A	TRIT1	DOCK7	PIGP	DCX	GABRB2	WWOX	SLC25A12	TWNK	HNRNPU	SLC1A2	NTRK2	SLC6A1	PNPO	NUS1	PAFAH1B1	PPP3CA	ROGDI	SLC2A1
HP_ORAL_PHARYNGEAL_DYSPHAGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORAL_PHARYNGEAL_DYSPHAGIA	SLC1A3	TSEN2	BMP4	TANGO2	TP63	ATP1A3	UBB	NGLY1	GIPC1	HTT	ARHGAP29	NOTCH2NLC	GRHL3	YY1	NECTIN1	RAI1	CACNA1A	ZNF699	PDGFRA	ASPA	TSEN34	FLCN	TSEN54	IRF6	MSX1	DLX4	SCUBE3	TAF1	SLC2A3	ADCY6	CDH1	ADNP	GRIN1	TSEN15	SEPSECS	ATP1A2	CNTNAP1	DLG1	MTRFR	EXOSC9	CTNS
HP_NEURONAL_LOSS_IN_BASAL_GANGLIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEURONAL_LOSS_IN_BASAL_GANGLIA	NDUFAF3	NDUFB8	VRK1	MAPT	NDUFS2	SURF1	SCO2	HTT
HP_CSF_LYMPHOCYTIC_PLEIOCYTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CSF_LYMPHOCYTIC_PLEIOCYTOSIS	TICAM1	TRAF3	PRRT2	RNASEH2C	TLR3	TBK1	TREX1	CACNA1A	LSM11	RNU7-1	IFIH1	SAMHD1	RNASEH2B	UNC93B1	ADAR	RNASEH2A	IRF3	SCN1A	ATP1A2
HP_AGENESIS_OF_LATERAL_INCISOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGENESIS_OF_LATERAL_INCISOR	PAX9	BMP4	BLM	ERCC3	SUMO1	TP63	EDARADD	EDA	ARHGAP29	MSX1	NECTIN1	WNT10B	PDGFRA	LRP6	BCOR	IRF6	DLX4	WNT10A	B3GLCT	NAA10	CDH1	AXIN2	TGFA	FGFR1	DLG1
HP_AGENESIS_OF_MAXILLARY_INCISOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGENESIS_OF_MAXILLARY_INCISOR	BCOR	RIPK4	PAX9	WNT10A	BLM	B3GLCT	NAA10	ERCC3	SUMO1	EDARADD	AXIN2	TGFA	IRF6	FGFR1	MSX1	WNT10B	EDA	LRP6
HP_TALL_CHIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TALL_CHIN	MYH8	TLK2	OPHN1	EIF2S3	NSD1	SETD2	APC2
HP_LONG_EAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_EAR	DPYD	EIF5A	WNT7A	EED	STT3A	KDM3B
HP_MENOMETRORRHAGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MENOMETRORRHAGIA	ITGB3	FGG	ITGA2B	FGB	FGA
HP_CLEFT_HARD_PALATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLEFT_HARD_PALATE	TP63	AMMECR1	NEK1	NUAK2	ZEB2	EIF4A3
HP_ABNORMALITY_OF_THE_PERIPHERAL_NERVOUS_SYSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PERIPHERAL_NERVOUS_SYSTEM	PIGN	CHCHD10	TFG	MKKS	ZIC2	FANCB	VCP	HSPB1	ASCL1	PLCH1	UBE2T	SAMD9L	ECE1	SNCA	TGIF1	CYP11B2	PMP22	SPG11	PIGY	NEFL	NODAL	SOX10	SETD2	PLOD1	PRKN	MORC2	RET	PLP1	SIX3	ERBB2	CYB561	DHCR7	EPM2A	SPTLC1	PLEKHG5	SPIB	TCF4	SH3TC2	GP1BB	CBY1	SORD	SEMA3D	FBN1	DBH	MBTPS2	BSCL2	ZEB2	ATP7B	GALC	ERCC4	RREB1	REEP1	TMEM237	DLL1	CALM3	COMP	CSPP1	LRRK2	NDRG1	GAS1	PHOX2B	ATP7A	BDNF	SYNJ1	SYT2	COQ2	PALB2	KCNQ1	STIL	SHH	PRPS1	CEP290	GFM2	EDN3	FOXH1	BRCA2	HK1	SCN11A	FGF8	HSD17B4	SLC6A8	LMNB1	VPS11	TTR	LGI1	FGD4	GLA	TMEM67	HYLS1	TMEM218	LEPR	ERCC8	TBX1	GMPPA	KCNE2	B2M	CC2D2A	ACOX1	SCN4B	RAD51C	NMNAT1	CYP27A1	GDAP1	IL12RB1	UCHL1	PAX3	RETREG1	APC2	TTPA	ZFHX4	DEGS1	JPH1	NEU1	MKS1	MECP2	PRX	MAD2L2	CEP41	NTRK1	EGR2	FANCA	NALCN	PIGO	MPZ	CEP126	IL12A	ABHD12	CDON	MITF	SUFU	GLI2	ARX	BRIP1	LRSAM1	FOXF1	CTDP1	GJB1	ERCC6	KARS1	RFWD3	GDNF	LAMA2	SNAI2	SLC1A3	MYH14	L1CAM	IGHMBP2	VPS35	POU2AF1	FGFR1	ATL3	DHX16	NGLY1	OPA1	ADH1C	ARSA	SPTBN4	MPV17	LYST	TMEM216	DEPDC5	EDNRB	GNB2	AARS1	NAA10	TYMP	DIAPH3	DNAJC13	PNPT1	ARHGEF2	HTRA2	MFN2	NOS1AP	BRCA1	NR4A2	RRM2B	ALS2	TBC1D20	PSAP	NSD1	SEMA6B	ZNF423	SACS	LIG3	CEP120	FXN	GABBR2	CISD2	MYO1H	GIGYF2	MTRFR	PTRH2	GJC2	FMR1	ATXN10	MTMR2	IDUA	HSPB8	WDR45	ATXN1	PPOX	HEXB	EIF4G1	ARHGEF10	CCT5	TCTN1	SIM1	COMT	ATP1A2	RMRP	CCDC28B	KRAS	KIFBP	MAPT	SCN9A	SLC18A2	SEC24C	MOGS	MARCHF6	SIGMAR1	ERBB3	SALL4	TCTN2	NFASC	SMC1A	ANK2	RFC1	SNTA1	CACNA1C	PARK7	YEATS2	GFAP	TBX5	GBA1	HINT1	ATXN3	ELP1	LEP	VPS13C	RELN	COL5A1	KIAA0586	GARS1	DISP1	SMO	PLA2G6	FLVCR1	SCN5A	COL25A1	KCNJ5	FANCC	TXN2	GBE1	STARD7	SUCLA2	PODXL	SH2B1	KATNIP	MED25	MATR3	TPI1	DHH	SPTLC2	CAV3	FBLN5	CPLANE1	POLG	DNM2	TIMM8A	PTCH1	OTOF	SETX	SLC12A6	MT-TT	PIGV	PMP2	AHI1	TDGF1	PIBF1	ARMC9	SCN10A	ATP1A3	SUMF1	KIT	FBXO38	RAB7A	GCK	GLUD2	MFF	UQCRC1	FBXO7	PINK1	SNCAIP	VPS13A	TBC1D24	KITLG	SBF2	NRTN	NOTCH2NLC	SPG21	CALM1	MYH3	ABCD1	INPP5E	SBF1	BCOR	TRPV4	FANCD2	PRNP	PEX6	GATA1	ATXN2	ARL13B	RAD21	LITAF	PDK3	DNAJB6	NHLRC1	TUBB3	FANCI	TNPO3	BRAT1	COL1A1	SEMA3C	KIF1A	TNFSF15	GSN	TMEM231	XRCC2	KCNH2	LIFR	LTBP3	ATXN8OS	TWNK	DNAJC3	TBP	COL5A2	SCN3A	CALM2	HIRA	CAV1	POLR3A	TUBA1A	LMNA	DYSF	STAG2	SETBP1	ACTG2	TOGARAM1	PNKP	SREBF1	B9D2	ARL6	YARS1	SLC6A2	ARVCF	FANCF	RAI1	RIPOR2	IRF5	TYR	PGAP2	SF3B4	CEP104	DCAF8	SNAP29	NPHP1	FIG4	KCNE1	ARL3	WNK1	WFS1	TMEM138	FANCM	MMEL1	CADM3	SLX4	RPGRIP1L	CACNA1A	SLC25A15	PIGW	HYCC1	HPDL	FANCL	ATRX	PGAP3	ATP11A	AIFM1	AKAP9	ERCC3	EMILIN1	DDX59	SAMD12	JMJD1C	AAAS	TRDN	FANCE	FANCG	EBP	SEPTIN9	BBS1	KIF1B	TSPYL1	DNAJC6	RAD51	B9D1	UFD1	CHRNA3	ATL1	PIGL	CHCHD2
HP_RECURRENT_EAR_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_EAR_INFECTIONS	ELANE	PIK3CD	TCIRG1	GFI1	KNSTRN	ODC1	SP110	DDOST	LEP	SPTBN1	SRP54	IDS	UBE2A	MBD5	CLPB	ALG12
HP_EPIGASTRIC_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIGASTRIC_PAIN	MET	CFH	CTRC	SPINK1	HELLPAR	CTNNB1	ALMS1	CD46	CFI
HP_CLEFT_LIP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLEFT_LIP	PIGN	PROKR2	NEK1	ZIC2	KAT5	SEMA3E	TMCO1	STIL	PLCH1	DEAF1	GPC4	TGIF1	HYLS1	DDX59	POLR1C	RPS26	FGD1	NODAL	DYNC2I1	FRAS1	PTCH1	RPS24	CTBP1	GATA1	CDH1	DVL3	FZD2	WDR35	SMG9	TDGF1	SIX3	ASXL1	CTNND1	NSD2	WNT3	CYP26C1	RPS27	TCTN3	GREB1L	GLI3	WNT5A	FGFRL1	KATNIP	ADA2	SMOC1	DYNC2H1	PHF8	H4C3	TAPT1	RPS28	OCLN	IRF6	MED12	GJA1	TCTN2	DLL1	SPOP	IFT80	SMPD4	TP63	FOXH1	CPLX1	FOXC2	RPL15	DDX3X	MSX2	GAS1	RPGRIP1L	FGF8	MYL11	RPL11	GLI2	FGF20	FREM2	DSE	SHH	CHUK	MTHFR	YAP1	VANGL2	GRHL3	RPS29	DHODH	RPL27	SMCHD1	RPL35A	WNT4	LETM1	FBXO11	IQSEC2	BCOR	NECTIN1	LMX1B	SUMO1	RERE	DLX4	LHX4	STAG2	MSX1	PIGV	ARHGAP31	BMP4	C2CD3	ALX4	FLII	SMAD4	TXNL4A	FGFR1	CC2D2A	PAX3	RPS10	RPL5	POMT1	NUP107	DISP1	CHD7	KIF7	DYNC2I2	SUFU	PIGG	RAI1	EIF2S3	CDON	TFE3	SLC2A10	VAX1	EVC2	PHGDH	COLEC11	KANSL1	TFAP2A	RPL18	TRRAP	CEP120	NELFA	EPG5	EVC	MID1	NUAK2	RPL31	POMT2	PTCH2	ESCO2	DVL1	TBX2	UBB	FOXF1	NIPBL	JUP	RET	RIPK4	FKRP	FAM20C	RPL26	NBN	RPS19	SLC29A3	NAA10	MEIS2	POLR1D	TCOF1	OFD1	INTU	COLEC10	PROP1	MEOX1	TSR2	SF3B4	RSPO2	GDF11	TGDS	GPC3	SF3B2	CCDC32	ACTB	POLR1B	B3GLCT	WNT9B	SMO	INTS1	B3GALT6	ZSWIM6	RPS15A	CPLANE1	RPS20	FLNB	DYNC2LI1	OTX2	RAB5IF	GRIP1	IFT57	RIC1	SPECC1L	FKTN	ANKRD17	RPS17	SMC1A	ALX3	WLS	HESX1	ITGA8	NSMF	RPL35	MASP1	NSDHL	TRAPPC9	EFNB1	CHST14	LARGE1	POU1F1	CILK1	FOXA2	RPS7	HOXD13	AMER1	PORCN	GFRA1	FLRT3
HP_SUBMUCOUS_CLEFT_OF_SOFT_AND_HARD_PALATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBMUCOUS_CLEFT_OF_SOFT_AND_HARD_PALATE	CDC6	POMT1	HYAL1	SOX9	PRKAR1B	ZEB2	NSUN2	KAT5	ESS2	DGCR2	RPS23	SON	B4GAT1	COL2A1	HAAO	HS2ST1	PIEZO2	LMNA	BCOR	POMT2	TBX1	STAG2	RNU4ATAC	CDC45	ORC1	PPP2R5D	KRAS	SOX6	CRPPA	HYLS1	SET	BRAF	AMMECR1	FKRP	CDT1	LARGE1	KAT6B	B3GALNT2	SMAD4	CARS1	ORC6	PRR12	TCTN3	POMGNT1	CDH11	DGCR8	KIF7	COL4A1	GDF11	LIG4	FOXP2	ZMPSTE24	MAP2K1	POMK	PTDSS1	POMGNT2	SIAH1	CUL3	RAD21	DGCR6	GMNN	BICRA	DAG1	DHCR24	SMCHD1	ORC4	MAP2K2	AMER1	SIX3	WBP11	RXYLT1	FKTN
HP_ABNORMAL_T_CELL_ACTIVATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_T_CELL_ACTIVATION	CARMIL2	LEP	LEPR	EPG5	CD40LG	CASP8	MAGT1	TGFB1
HP_ABNORMAL_LIVER_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LIVER_MORPHOLOGY	FOXP3	SLC4A1	NLRP3	CIDEC	TERT	ARSB	CTNNB1	YARS1	BAP1	ACAD9	B2M	UQCRB	TREX1	BRCA1	RPGRIP1	LMNA	GPC4	LBR	USP53	SERPINA1	LIPA	GNE	HBA1	ZNF699	CPT2	B9D2	ETFA	RNASEH2C	MT-ND1	SLC25A20	RMRP	ADAR	PIK3CA	HFE	GNPTAB	ABCB11	SLC51A	AP3D1	TP53	IFIH1	NPC2	TCIRG1	PEX14	ASXL1	JAK2	CCDC115	STEAP3	NAGLU	RASGRP1	PEX3	GNAS	IL1RN	RAC2	NOP10	PTPN11	ZIC3	TMEM67	TRAF3IP1	DOCK6	ATP7B	SLC39A4	APOA1	HADHA	PEX16	SLC25A1	RFXANK	RINT1	HNF1A	MAGT1	VPS33A	HNF1B	HAVCR2	PKD1	RNASEH2B	POLR3A	CPT1A	ASS1	ALMS1	VPS4A	DDRGK1	HSD17B4	SLC25A13	NOTCH1	GBA1	PEX5	LYZ	ACADM	VIPAS39	PCCA	FDX2	TINF2	PIK3R1	PTPN2	NEK8	ERCC8	FBP1	NPHP3	XIAP	NDUFA1	RFXAP	VPS33B	MCCC1	HNRNPA2B1	MT-ND6	PCK2	IL12RB1	PEX6	ABHD5	IFT43	RNU7-1	CTSC	NAGA	MT-ATP6	COG1	REL	KCNN4	EDNRA	SLC37A4	NDUFV2	HBB	SLC11A1	IL12A	MPI	SGSH	LTBP3	IL2RA	MMUT	MPC1	LARS1	DCDC2	CEP164	GALT	ASL	CAVIN1	MPL	EFL1	ATRX	MIF	MYPN	MAN2B1	TFR2	JAK3	IGKC	DPM2	SOX10	NR1H4	CASP10	RHBDF2	NDUFS4	TNFSF11	NGLY1	FAH	GUCY2D	PTPRC	GABRD	NCF1	ADA	RFX5	TCTN3	FUCA1	KRAS	SRP54	ATP6V1B2	PKHD1	CLPB	RHCE	SLC40A1	FARSB	RRM2B	DHFR	CFTR	TNNT2	WDR19	SMAD4	MADD	RBPJ	INSR	ZAP70	FLNC	GPC3	XRCC4	TTC21B	SLC26A9	RAG1	ANTXR1	SP110	LSM11	TBX1	IDUA	TLR8	WDR35	HEXB	MAPK8IP3	SLC7A7	TNFRSF11A	COG7	NDUFS1	MRPL3	HBA2	BMP2	CCDC28B	BTK	ALDOB	NCKAP1L	DNAJB11	DGUOK	BTNL2	LZTR1	VCP	NOTCH2	ATAD3A	XPR1	PEX10	RPGRIP1L	MOGS	MICU1	PRKCD	SMPD1	ETFDH	DAXX	ABCG8	MMAB	GLB1	CD28	IL17RA	TTC8	PEX11B	SNX10	HAMP	SH2D1A	HBG2	FERMT3	AIRE	KLF1	PSAP	SDHD	HYMAI	PHKG2	ANK1	KCNH1	SCAPER	NDUFAF3	CEP290	TGFB1	SLC22A5	JAK1	MYD88	PIGM	ALG8	CASR	FGFR2	TRAPPC11	APOE	PEX12	PEPD	CAV1	FADD	FAS	GPIHBP1	EIF2AK3	CIITA	COX15	NCF4	ATP7A	DNASE1L3	UNC13D	CBS	NDUFS7	HMOX1	ACP5	GATA2	CARS2	STAT1	IRF8	LMNB2	STN1	CC2D2A	TCTN2	PEX13	MEG3	POLG	MVK	ERCC6	AUH	C1S	RRAS2	TKFC	INPP5E	HYOU1	MT-ND5	ATPAF2	SPTA1	GNMT	IL6	DCLRE1C	ABCC2	CLCA4	CLEC7A	POLD1	PLEKHM1	EPB42	CPOX	CCDC47	RAG2	TNFRSF13B	TNFRSF1A	G6PC3	TNFRSF1B	OSTM1	PHKA2	UCP2	MRAS	IRF4	IFT80	HADH	GLIS3	TFAM	PEX1	ADK	IFNG	GCDH	PMM2	SNX14	JAG1	AP3B1	ACADVL	DPAGT1	CP	DLL4	ACVRL1	STX11	PLIN1	GPR35	LMBRD1	HSD3B7	RAB27A	PPP1R21	PEX19	IDS	CFAP418	KIF20A	SLC25A19	TKT	BBS1	PNPLA2	CDKN2A	NCF2	PPARG	SDCCAG8	TMEM216	GFM1	USB1	COG6	FASLG	RECQL4	PYGL	RABL3	DLD	UROD	ABCB4	INPPL1	CYP7B1	IFT172	MED12	DKC1	BMPER	LYRM4	NDUFS8	ALG13	MLXIPL	RNU4ATAC	NDUFB9	IL17F	B9D1	NEU1	ACTG2	MRPS7	TTC7A	AGL	HGSNAT	TARS2	ENG	ASAH1	HMGCS2	BMP6	NDUFB3	HLA-DRB1	LPIN2	TULP3	PSMB10	PLAGL1	PTRH2	GAA	PALB2	NDUFS2	CD55	B4GALT1	C1QBP	TRIM32	RNASEH2A	NDUFAF8	NDUFAF5	DNAJC19	JAM2	PEX2	KPTN	SLC29A3	DDOST	OFD1	RHAG	PRKCZ	MT-ND3	DZIP1L	LDLR	AMACR	FLT1	ABCA1	SBDS	MKKS	DLK1	SKIC2	CYBB	FOCAD	NSMCE2	ALG9	HNF4A	ALG2	PALLD	SLC35C1	AGGF1	SLC2A2	HNRNPA1	FARS2	NEK1	NFS1	CD79B	TSC1	MKS1	MT-TK	KMT2B	RAF1	CTLA4	MT-ND2	TYMS	DPM1	MYBPC3	CORIN	COX14	NDUFS3	GCLC	AGPAT2	MICOS13	CD27	WT1	ICOS	MMEL1	LIPE	ABCD3	UBE4B	STAT3	SASH3	TTC26	GALM	MT-TW	MT-TN	PIGA	DEF6	ZNFX1	CBL	ADA2	DNASE2	SAMHD1	GPD1	RIPK1	CD40LG	JAM3	SEC63	SLC2A1	TET2	GDF2	GALNS	AKR1D1	SDHA	IGLL1	TRIM37	ACAT1	PEX26	USP18	IGF2R	BAAT	IL17RC	TRMU	SLC51B	CDIN1	PCSK9	BCS1L	SC5D	GUSB	EOGT	EXTL3	COX5A	BBIP1	NDUFB10	CTSK	IFT122	C2orf69	NSD2	PC	NHP2	MYL2	IFNGR1	SAR1B	CASZ1	TCF3	PRF1	DOCK2	CYBC1	DYNC2I1	CEP19	ACADS	TERC	IFT140	IL7R	C4B	CTNS	SHPK	SLC25A15	HSPG2	PCCB	SPIB	NPHP1	FAM111B	GALE	BBS5	HMGCL	SCO1	ERCC4	PARN	RRAS	CLCN7	COX4I2	CD247	RIT1	NUBPL	CEACAM6	CD96	LAMA5	TCTN1	CYP19A1	FCGR2A	IGHM	DYNC2H1	MTX2	CALR	TXNDC15	SOCS1	ABCC8	SLC30A10	DHDDS	EARS2	TRAF3IP2	ZFYVE19	XK	SCYL1	ERBB3	PRDM16	MEFV	RMND1	NDUFA11	APC	AGA	CTC1	SKIC3	IRAK4	CD19	CA2	PDPN	ETFB	MFN2	COA8	NPM1	LRPPRC	FARSA	LACC1	AP1B1	MARS1	ANKS6	MTTP	SAA1	SCARB2	CD3D	TMEM165	MT-TE	ENPP1	MT-CYB	TNNI3	BBS2	POU2AF1	NDUFAF2	F5	SPTBN1	SLC38A3	BLNK	STXBP2	NEUROG3	IL21R	MPV17	BRCA2	LYST	NRAS	NDUFV1	GNB2	WRAP53	PDE8B	SLC20A2	TYMP	CDKN1C	SRSF2	PNPLA6	FGA	SFTPC	PRKAR1A	TMEM126B	VPS45	MRPL44	COG4	ARHGAP31	LIG3	APOB	TCF4	MT-TV	ITK	NDUFAF1	UNC45A	MMP23B	SLC6A14	HJV	GIMAP5	GANAB	AKT2	ATP6AP1	IL18BP	ABCG5	IFT27	KIF3B	NAA10	CLDN1	AP1S1	ATP8B1	MET	ERCC1	BSCL2	G6PC1	NDUFS6	YARS2	ARMC5	BBS4	PDGFRB	ZPR1	BTD	PDGFRL	UROS	KCNN3	NDUFAF4	PTEN	ACOX1	FBN1	CEACAM3	TRPV6	STX1A	KCNQ1OT1	SOS1	PCK1	CD70	POLG2	IL2RG	RHD	ITCH	ABCC6	BLM	IARS1	SF3B1	CASP8	KIT	LDLRAP1	PKD2	COG5	FOS	MYO5B	MYORG	TJP2	BBS10	BBS12	TMEM107	SLCO2A1	SLC9A3	SPEN	ATP6AP2	ARG1	ELN	FECH	SKI	PI4KA	MYRF	HPGD	LZTFL1	SPTB	SUMF1	OCLN	GNS	PDGFB	CYBA	CHD7	APOC2	PSMB9	MMAA	ARL13B	PDGFRA	RTEL1	CD3E	SLC34A2	VPS13A	TMEM70	MRPS28	NAGS	WDPCP	ACVR2B	CNTNAP2	ANKRD55	DHCR7	PSMB8	SYK	LUZP1	TALDO1	SCO2	NDUFA6	TMEM237	TNFRSF13C	DCTN4	RFT1	PKLR	COG8	RBCK1	PUS7	IGF2	IL2RB	GALK1	CD81	MT-ND4	DYNC2I2	TNPO3	STAT4	CTSA	CR2	KCNAB2	MCM4	TFE3	ALDH1A2	PSMG2	TNFSF15	PHKB	KCNQ1	XYLT1	ADAMTSL2	PRKCSH	CYP7A1	SLC17A5	CSPP1	KCNJ11	RERE	KRIT1	TSFM	LIG4	TBX19	PTPN22	TIMMDC1	SFTPA2	TRMT5	IFT74	TMEM199	SUCLG1	RBM8A	NPHP4	SOS2	TOGARAM1	FOXRED1	PDE11A	KRT18	ARL6	ALDOA	LRP5	CDAN1	BOLA3	KIF12	SPRED2	NLRP1	PRIM1	DNAJC21	NHLRC2	IL6ST	IRF5	RASA2	LRRC8A	ALG5	TMEM231	HBG1	GSTM3	TUFM	DYNC2LI1	MST1	GLRX5	SURF1	PRKACA	GBE1	NPC1	TPP2	PSMB4	BBS7	ALG1	TSC2	PSTPIP1	BBS9	LCAT	MT-TL1	RTL1	IGHG2	STOX1	HADHB	TOM1	LPL	RUNX1	SEMA4D	BICC1	AXIN1	INVS	PIEZO1	PGM1	OTUD5	NDUFB11	PIK3C2A	PIGS	DIS3L2	MUC5B	IKBKG	EWSR1	IQCB1	CD79A
HP_ABNORMAL_NEURAL_TUBE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NEURAL_TUBE_MORPHOLOGY	CEP290	FGF8	EOGT	CHRNG	DLL1	ARSB	ZIC2	FANCB	VPS37D	HSPG2	CUL7	HAAO	HES7	PLCH1	UBE2T	FUZ	RPGRIP1	TGIF1	HYLS1	FLNA	FKTN	B9D2	ZIC1	MEOX1	RNASEH2C	NODAL	B4GAT1	FRAS1	SALL4	GNPTAB	FLVCR2	SIX3	IQCB1	MTRR	COL18A1	GLI3	GP1BB	CBY1	VANGL1	ZIC3	LIG4	DOCK6	RREB1	TMEM237	BMP2	HMX1	CSPP1	TMEM138	GAS1	RPGRIP1L	H19	TCTN1	FREM2	PALB2	RDH12	UBA2	STIL	SHH	RNASEH2B	CRB1	CREBBP	PLEC	MLXIPL	FOXH1	BRCA2	CYP26B1	NOTCH1	TXNDC15	CHN1	GDF6	FGFR3	SMO	TMEM67	TMEM218	POMT2	TBX1	MKS1	COLEC11	GMPPB	C2CD3	FKBP6	CC2D2A	KIAA0586	RAD51C	NMNAT1	PAX3	POMGNT1	NF2	PTCH1	MAD2L2	CEP41	TMTC3	RAF1	CHD7	FANCA	RUNX2	CDON	SUFU	GLI2	ATP6V1B2	WDR81	CLIP2	BRIP1	SUPT16H	FIG4	EXT2	LARGE1	CEP120	MESP2	POMT1	RFWD3	MAFB	NUAK2	CRPPA	LCA5	SC5D	SOX9	FGFR1	DLL3	DLL4	PAK2	KCNJ13	TMEM216	B9D1	TMEM231	POLR1D	TCTN3	TCOF1	BRCA1	NOTCH3	INPP5E	ZNF423	ITGB4	RBPJ	ARHGAP31	ALX3	TULP1	CCL2	TBX15	LSM11	FLNB	CDK13	VAC14	COMT	BAZ1B	RMRP	ELN	SF3B4	LAMB1	POLA1	LRAT	IGF2	PSAT1	EP300	SEC24C	ALX4	FLI1	EIF4H	KIF14	ERCC4	MAP3K7	ZSWIM6	TCTN2	SMC1A	BRAF	EXT1	LFNG	KCNH1	MSX2	MASP1	PUF60	IRF6	MYH3	VANGL2	CCNQ	AMER1	PTPN11	DISP1	FANCC	IKBKG	PCYT1A	KATNIP	WNT7A	TBXT	AIPL1	SPATA7	POLR1C	MEG3	RNU7-1	GPKOW	TMEM107	AHI1	METTL27	CDH1	TDGF1	PIBF1	ARMC9	RPE65	ARID1B	RORA	NDE1	GTF2IRD1	DKK1	ARL13B	BMS1	BCL7B	NCF1	KIF7	MTR	IFT140	ABCD1	LMX1B	SIN3A	MTHFD1	RD3	ARPC4	RFC2	FANCD2	RECQL4	TBL2	CPLANE1	PORCN	B3GALNT2	ALG3	GTF2I	IMPDH1	TUBB4B	RASA1	FANCI	TRIM36	CCBE1	TREX1	PHGDH	GDF3	USP45	CEP55	XRCC2	STX1A	DARS1	DNAJC30	TBC1D24	PTCH2	ESCO2	NSUN2	TBX6	NAXE	RNASEH2A	FKRP	HIRA	RAB23	COLEC10	STAG2	GLB1	OFD1	SETBP1	TOGARAM1	NEK9	RBM8A	DLK1	BMPER	DACT1	ARVCF	ALX1	MTHFR	FANCF	SF3B2	POLR1B	BUD23	CEP104	KIF22	SMOC1	NPHP1	GJA1	ACTB	TNXB	ARL3	POMK	GRIP1	GUCY2D	CYP27A1	NF1	FANCM	SLX4	KANSL1	B3GLCT	GTF2IRD2	LIMK1	FANCL	IFIH1	PIK3CA	RTL1	BTD	COL2A1	SAMHD1	ADAR	TMEM270	CRX	JMJD1C	RIPPLY2	GALNS	KCNQ1OT1	NOTCH2NLC	FANCE	FANCG	HOXD13	SLC25A19	VSX1	SNRPB	RAD51	FIBP	HRAS	UFD1	WBP11
HP_DECREASED_CIRCULATING_GABA_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_GABA_CONCENTRATION	HFE	APP	NOS3	MPO	PLAU
HP_INCREASED_LEVEL_OF_HIPPURIC_ACID_IN_URINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_LEVEL_OF_HIPPURIC_ACID_IN_URINE	PCCA	PCCB	DBT	BCKDHB	BCKDHA	HMGCL
HP_INCREASED_LEVEL_OF_L_FUCOSE_IN_URINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_LEVEL_OF_L_FUCOSE_IN_URINE	FGFR2	KRAS	APC	IL1RN	TP53	IL1B	KRT18	KLF6	STK11	CASP10	IRF1	SMAD4	ERBB2	MUTYH	PIK3CA
HP_PHYSICAL_URTICARIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHYSICAL_URTICARIA	CARMIL2	POU2AF1	SLC27A4	SERPING1	SPIB	SUPT16H	IRF5	PLCG2	TNFSF15	TNPO3	MMEL1	KIT	IL12RB1	IL12A
HP_EOSINOPHILIC_INFILTRATION_OF_THE_ESOPHAGUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EOSINOPHILIC_INFILTRATION_OF_THE_ESOPHAGUS	TGFBR2	TGFB3	TGFB2	SMAD3	TGFBR1	TGFB1	DOCK8
HP_HIPPOCAMPAL_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIPPOCAMPAL_ATROPHY	CAMTA1	GRM7	ABCA7	RNU4ATAC	NEK1	CPA6	BICRA
HP_HYPERKETONEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERKETONEMIA	PHKA2	PHKG2	GCDH	SLC37A4	COX6B1
HP_ABNORMAL_CIRCULATING_IGA_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_IGA_LEVEL	IGKC	PIK3CG	IL2RG	CD247	POU2AF1	CASP10	IKBKG	FAS	ITCH	BLM	AICDA	TCN2	RASGRP1	PTPRC	BLNK	ADA	MVK	CD40	IPO8	STAT2	PIK3CD	WAS	CASP8	POMP	CD19	CR2	ALG12	PIK3R1	MTOR	IVNS1ABP	SPIB	RAG2	IL6ST	TNFRSF13B	NLRP1	PRIM1	PMM2	UNG	DNMT3B	IRF5	TYMS	TNFRSF11A	CD3E	NFE2L2	CTLA4	ZNF341	HLA-DQA1	HLA-DQB1	BTK	CCND1	ATP6AP1	LRBA	ATM	ICOS	MOGS	STING1	PRKCD	MMEL1	PLCG2	RNF168	PSMB8	PGM3	SASH3	NFKB2	DCLRE1C	RAG1	SYK	PIGT	BACH2	KNSTRN	OTULIN	TNFRSF13C	IL12RB1	IGHG2	CARD10	CARD11	FASLG	TCF3	CD40LG	REL	IL2RA	TNPO3	IL12A	IRF2BP2	IGLL1	CD79B	CD3D	TNFSF15	SPI1	LIG1	CAVIN1	CSNK2A1	TOM1	IL7R	GTF2H5	JAK3
HP_ABNORMAL_CIRCULATING_IGE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_IGE_LEVEL	FOXP3	IL2RG	BTK	CD247	CDSN	NCKAP1L	GPC4	IL4R	ADAM17	PRKCD	SPINK5	STAT3	KRT74	FAS	ADA	PGM3	CD40	TGFB1	DOCK8	WAS	CASP10	BACH2	IPO8	KRT1	TYK2	IL6ST	EXTL3	IL21	NSMCE3	CARD10	FASLG	TCF3	KRT9	DCLRE1C	CD40LG	IRAK4	RASGRP1	MS4A2	IL2RA	STAT5B	GPC3	COL7A1	CARD9	TOM1	IL7R	PLA2G7	ZNF341	IL6R
HP_ABNORMAL_CIRCULATING_IGG_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_IGG_LEVEL	RAG2	IGKC	PIK3CD	PIK3CG	IL2RG	B2M	CD247	SPPL2A	CASP10	IKBKG	FAS	BLM	AICDA	TCN2	RASGRP1	PTPRC	TNFRSF13C	BLNK	IFNGR1	ADA	CD40	DOCK8	IFIH1	IPO8	RAG1	VPS33A	CASP8	EXTL3	POMP	IL21	CD19	CR2	ALG12	PIK3R1	RNF113A	EPG5	MS4A1	IVNS1ABP	CTPS1	IL2RB	CNBP	RAC2	IL6ST	TNFRSF13B	NLRP1	PRIM1	PMM2	UNG	NHLRC2	ITK	TPP2	MGAT2	TLR8	TYMS	TNFRSF11A	SLC5A6	CD3E	CTLA4	BTK	CCND1	NCKAP1L	ATP6AP1	LRBA	ATM	ICOS	MOGS	STING1	PRKCD	SPINK5	RNF168	SON	PSMB8	PGM3	SASH3	NFKB2	TGFB1	DCLRE1C	SYK	BACH2	KNSTRN	FNIP1	XIAP	SH2D1A	IGHG2	CARD10	FASLG	TCF3	CD40LG	REL	CD81	ARHGEF1	CD3G	TONSL	IRF2BP2	CXCR4	CD79B	CD3D	TRMU	SPI1	LIG1	ERCC2	CSNK2A1	TOM1	SP110	IL7R	IL6R	JAK3
HP_ABNORMAL_CIRCULATING_IGM_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_IGM_LEVEL	IGKC	PIK3CD	PIK3CG	IL2RG	CD247	SPPL2A	POU2AF1	CASP10	IKBKG	FAS	BLM	AICDA	TCN2	RASGRP1	PTPRC	TNFRSF13C	BLNK	IFNGR1	ADA	KLHDC8B	CD40	DOCK8	STAT2	WAS	VPS33A	CASP8	EXTL3	POMP	LAMTOR2	NSMCE3	CD19	POLE	ALG12	PIK3R1	MYD88	IVNS1ABP	SPIB	SIK3	CNBP	RAG2	IL6ST	PRIM1	TCF4	UNG	DNMT3B	IRF5	TPP2	TYMS	TNFRSF11A	CTLA4	BTK	ATP6AP1	GPR35	LRBA	MST1	MOGS	PRKCD	MMEL1	PLCG2	RNF168	SASH3	NFKB2	RAG1	SYK	PIGT	BACH2	KNSTRN	PGM3	OTULIN	FNIP1	ADA2	XIAP	SH2D1A	IL12RB1	IGHG2	CARD11	FASLG	TCF3	SEMA4D	CD40LG	ICOS	TNPO3	ARHGEF1	IL12A	IRF2BP2	IGLL1	RAC2	CD79B	TNFSF15	SPI1	LIG1	TOM1	IL6R	JAK3
HP_CHRONIC_NEUTROPENIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_NEUTROPENIA	SLC37A4	PPIL1	DNAJC21	EFL1	SRP54	FIBP	CXCR2	LRBA	CDC40	SBDS
HP_TRANSIENT_NEUTROPENIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRANSIENT_NEUTROPENIA	SPI1	DNAJC21	EFL1	SRP54	FIBP	IRAK4	SBDS	CLPB
HP_BRAIN_IMAGING_ABNORMALITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRAIN_IMAGING_ABNORMALITY	SPRED1	MT-ND4	ASPA	SMARCE1	MT-ND5	IARS1	SH2B1	PSEN2	ACP5	RERE	NGLY1	TREX1	POLRMT	NAXE	PRNP	NF1	HTRA2	CHMP2B	GRN	CHD2	SNRPN	PIK3CA	C9orf72	TERT	PURA	SMARCB1	HSD17B10	VPS33A	POLR3A	TUBG1	FBXO28	MT-CO1	SETD2	SLC35A2	ALG1	ABCD1	ALG12	MAPT	SUCLG1	VCP	VARS2	MAGEL2	CREBBP	NDUFS2	CACNA1G	MT-TH	NSD1	BAP1	NDUFB7	MT-TL1	TMEM106B	FOCAD	NDUFB8	SMO	SURF1	KARS1	NIPA2	COX16	RAI1	DNM1L	NDUFAF3	PSAP	FARS2	USP7	CNP	PSEN1	PDGFB	ADORA2A	SCN1A	COQ2	DPAGT1	MTRFR	AP2M1	SDHD	APOE	CDC42	SATB2	NEXMIF	KMT2C	HMBS	ECHS1	GATM	TBL1XR1	SLC6A8	CYP27A1	NIPA1	TRAF7	SUFU	MT-CO2	SQOR	SDHAF1	WDR26	GALC	SCYL2	ERGIC1	AKT1	HPDL	SLC39A8	NDUFAF6	COL25A1	SIN3B	DYRK1A	TBCK	UBE3A	MT-TF	BTD	COG8	APC2	ATAD3A	MT-ND6	MRPS34	NF2	ATN1	FOXP1	SIN3A	ATP10A	TREM2	MECR	LYRM4	SQSTM1	DEAF1	SLC25A12	SCO2	GAMT	PDP1	MT-TS2	GRM7	ACAT1	EHMT1	MT-CO3	SYNGAP1	MT-TW	SIM1	SLC6A1	LYRM7	MT-TQ	EIF2AK3	MTHFR	SLC2A1	EP300	SDHB	MT-ND1
HP_PEDIATRIC_ONSET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PEDIATRIC_ONSET	KITLG	GABRA3	ARSB	LMX1B	NEMF	TRNT1	APC2	ADCY5	IL11RA	PI4KA	USP53	SLC2A1	LIPA	GNE	KISS1R	KCNQ5	GBF1	CNNM4	FRMD7	CHRNA1	CYP2U1	SLC41A1	ADAR	ALDH18A1	RYR1	SLC51A	TSC2	FCHO1	KLHL7	PGAP1	ERBB2	CYB561	TBK1	H6PD	UVSSA	NKX6-2	STS	HCFC1	FMN2	SGCG	KLC2	EIF2B5	TAF8	GUCY2C	MECP2	ARV1	SHQ1	RINT1	MFSD8	ZNF407	COL6A2	SGCD	JAG2	PDCD10	MAGT1	NRCAM	STAG1	SMAD9	ASS1	SP7	RYR2	H3-3B	LMNB1	TNC	PGK1	MYH7	CFAP410	PSMD12	RUSC2	MECR	UPB1	HGD	PRPS1	NFKB2	NDUFA13	MAFB	ATP6AP2	TCF20	LINGO1	NLRP12	SLC1A3	WARS1	NMNAT1	TUBGCP2	LMAN2L	ITPR1	CHRNE	HSPG2	KDM5C	MSMO1	CHKA	FBXO7	OTULIN	PIK3R5	TRPV4	CHD8	NTRK1	DBR1	DDHD2	ACP5	CLCN2	CTNNBL1	GNB1	MPI	PEX2	TPRKB	ASNS	AEBP1	DIAPH1	BICD2	EFL1	TRRAP	SLC6A6	P4HB	TOM1	COL6A3	DUT	NR1H4	KRT1	POMT1	SEPSECS	USH1C	CAMTA1	NGLY1	GUCY2D	ABCC9	ATP7A	HPS3	NCF1	PLA2G6	PDE6G	ARFGEF1	SCAPER	COX20	TMEM63C	CHAMP1	AMTN	RHO	FUCA1	EIF2AK4	INPP5K	IL37	TACSTD2	MMP14	ATP1A3	PCDH19	IL12B	SYT1	MFN2	TCF4	PLEKHG2	FARSB	ALS2	CFTR	APCDD1	ITGA7	PTPRQ	HTRA1	UMOD	AOPEP	THRB	SLC6A19	DAG1	TPK1	SRCAP	TNPO2	PURA	HSPB8	TRAC	HEXB	KIRREL1	TNFRSF11A	MRPL3	BIN1	DCC	PDK3	DAAM2	CNPY3	OCRL	AMBN	TK2	NCKAP1L	NDST1	RHBDF2	IMPG2	ACTC1	CRAT	RPE65	WRN	SLC19A3	CRX	PGAP3	GATA1	CFB	NKX2-1	GCH1	SOX6	C12orf57	TMEM53	ROBO3	COL7A1	AUH	WDR19	AGRN	CBLIF	AIRE	CARD10	SLC7A7	PITRM1	POLR3K	LRP5	IFITM5	MRPS2	LOXL3	PIGM	PAX9	UBAP1	ARHGEF1	MAGEL2	POMC	XPC	TRIO	WASHC4	MCM3AP	REEP1	BCORL1	PNKD	FKTN	LYRM7	ETHE1	GPIHBP1	KCNA1	PHIP	CNOT3	P4HTM	CDH2	CBS	LACC1	TRDN	CPSF3	MMACHC	HPDL	POLRMT	ATP2B3	ACSL4	FGF14	PRDX3	TGFB1	KCTD7	C19orf12	EPHB4	MYMK	KMT5B	ZMPSTE24	PROC	EGR2	SETX	MTSS2	AMMECR1	WAC	SYNE2	TUBB6	DCLRE1C	NDUFS4	CEBPE	ALG14	CTNS	WDR62	PAX8	PRDM12	POLR3B	EDA	PLEKHM1	IL36RN	PEX1	ADK	SLC4A11	GCDH	SPTLC2	CLCN4	DDX3X	TPP2	KRT74	CNP	PIDD1	FRRS1L	HCRT	HIBCH	GRIN2D	VPS37A	CHMP1A	SOX18	YME1L1	KRT81	GFAP	GON7	SCN1A	SBF1	DNM2	KDELR2	COX6A2	TACO1	RERE	SAMD9L	CCDC78	ADD3	KIDINS220	NCF2	EIF2B1	TRAPPC6B	RAC1	SCN4A	IRF7	LITAF	MCM6	TNPO3	SNX14	BAG5	IFIH1	BRAT1	WT1	ERCC6	MUSK	YRDC	GNAS	POLG	DNAAF5	GLRA2	COL17A1	THOC6	RTN4IP1	DPYD	MYO5A	POC1B	KIF1A	ATP1A2	TIMM50	PEPD	NUP62	RORB	IFT140	ANLN	CACNB4	ATRX	KCNK3	ILDR1	NAXE	SGPL1	VPS53	PTCHD1	NDRG1	SCN8A	KPTN	TIMMDC1	STAT2	PPP2CA	WAS	RPS19	HEPACAM	RIPOR2	ATP5F1D	EDAR	CACNA1C	ELP2	HSD17B10	ADAT3	PDE6B	MAG	GRID2	NLRC4	NDUFA10	RRM2B	ALAS2	IFNG	ALG2	AP1S2	SMN1	NUBPL	SPATA5L1	SETD5	TAFAZZIN	FRMD5	ELANE	ANO3	TRMT1	CAMK2A	KRT5	NUP107	GAN	CTC1	NTRK2	NEXMIF	PLCE1	BANF1	COL10A1	OGDHL	LIPT1	CHD3	TRIOBP	NSD1	STXBP1	KCNQ1	TBCE	IL17RC	ABCD3	PAPPA2	STAT3	SASH3	ALG8	TYMP	SARS1	KCNMA1	CRB1	PANK4	DEF6	SH3BP2	MAST1	ACADVL	DMD	KCNN2	CTNNB1	PROM1	ADA2	ARPC1B	ALG10B	GPD1	MFF	ANK1	GPHN	GALNS	CD3G	SLC34A3	EDC3	GAD1	PMP22	IGLL1	JAG1	ADPRS	LARGE1	TRMU	UNC45B	SDHA	IRF8	CPA6	ACADSB	RPA1	COX5A	WDR4	CFI	SLC20A2	C2orf69	NSD2	HTT	PC	NCAPD3	GPT2	CPT2	HAX1	RNASEH2A	SPG11	VPS41	NLGN3	TTLL5	SNORD118	DRC1	IL7R	C4B	PIK3R1	COL18A1	HNF1A	GLB1	CC2D1A	PLEKHG5	TBC1D7	PSPH	EIF2B3	MMP2	EIF2AK1	ATP13A2	PERP	TLR3	SLURP1	PMVK	PANK2	CELF2	WARS2	EXOC7	TYMS	DPM1	FCGR2A	SGCE	FBN1	GFPT1	NDUFC2	PMPCA	MTX2	VAMP1	ACTA1	SLC6A8	SOCS1	NEFL	NSUN2	KCNB1	DHDDS	EARS2	VAMP2	AGO2	SLC25A38	VPS33B	MEFV	DST	SLC12A5	FNIP1	ARL6IP1	KCNA2	TUBB4A	GJB2	FN1	CAPN3	PRKG2	MED13L	KCNT1	FHL1	MARS1	COQ6	FRMPD4	GAMT	ANKS6	AIFM1	NLRP3	SLC37A4	FCGR3A	PRKDC	CTDP1	LEP	PLEC	ESR1	BSCL2	PLP1	RANBP2	PDE2A	IL6R	PDE6C	LCA5	ASAH1	AICDA	KDM4B	CIC	KCNJ10	GDAP1	SLC38A3	NOS1AP	ERF	CALM1	KMT2E	STXBP2	FANCB	FGG	IL21R	SLC6A1	MPV17	LYST	NDUFS3	ENPP1	ISCU	COQ2	FA2H	KRT14	DSG2	HERC2	DIAPH3	ERCC8	WDR45B	ZMYND11	SOX11	CLPB	UPF3B	SPRED2	ADGRG1	ABCB7	SERPING1	ATP6V0A1	EXOC2	MPZ	GNRH1	VPS45	SACS	TSPYL1	FXN	SMN2	KANK2	SELENON	MYT1L	ATP6V0A4	CLCN3	PIGT	ITK	CPT1A	FLNA	GRM6	TPM2	ERCC1	DNAJC6	SVIL	FTSJ1	CALM2	ATL1	GANAB	ATP6AP1	EP300	TMEM67	SLC4A4	NEB	RASGRP2	SCN5A	APTX	ABCB6	BDP1	MCEE	AQP5	SDHAF1	MLIP	AKAP9	MDH2	TPM1	ATP8B1	NAPB	TBX18	TBC1D2B	G6PC1	S1PR2	DHTKD1	SIL1	TLK2	EXOSC8	MTOR	SCN2A	TMX2	NDUFA6	BRF1	BTD	AUTS2	PLPBP	FOXP1	TRAPPC9	CHRND	PTEN	ACOX1	TH	COL9A2	CNGA3	LIG1	FLRT3	ERCC2	EMD	PCK1	PNP	HIKESHI	IL2RG	CYC1	TP53RK	DNAH5	SPART	BLM	MOCOS	NFKB1	GJC2	MYOZ2	HIVEP2	MYO5B	TNIK	HCN1	RNF170	GAL	FBLN5	HSCB	TJP2	NDP	DIP2B	RPL3L	IMPDH1	DSC3	IL21	HPRT1	TREX1	MERTK	MTRR	ACO2	AGTPBP1	ARFGEF2	RP2	THUMPD1	DNASE1L3	OFD1	OCLN	H4C9	PMM2	ATP2B2	AARS2	CLCN7	MMP1	MMAA	TIAM1	SAR1B	GBA2	LRPPRC	ELOVL1	NDUFS2	GNB5	MIEF2	CA12	GRIA1	CUBN	GTPBP2	PLCG2	PSMB8	EXT2	PINK1	SYK	NARS1	SCO2	GRIN1	KDR	VPS16	ATG7	ACTN2	DDC	ARPC4	GABRB1	SLC1A4	NPHP3	MYMX	NEUROD2	TRIM37	MTR	STAT1	SLC5A7	ANOS1	DOCK7	CEP104	SLC34A2	CACNA1S	DOLK	TMEM251	SLC25A12	COL2A1	ATN1	F2	ZMYM2	CD79B	KCNQ2	GRIK2	TMC1	PHKB	ABCC6	NDUFAF1	PIK3CG	B2M	CTSD	DNAJC3	TGFBR1	CERS1	KCNH1	SLC39A14	CACNA1H	EDARADD	TNNC1	TRPA1	GLUD1	ELF4	TBC1D24	CACNA1I	RNF220	ARL3	ANAPC7	HNMT	CLCN1	DNAJC30	KBTBD13	DPM3	TBX19	CTNNA3	ALDOA	CLPX	SAMHD1	SRA1	SMPX	IRF2BPL	EIF2AK2	HCN2	GBA1	NLRP1	RFT1	ATP13A3	ASH1L	UNG	TECRL	ATP6V1B2	NDUFV2	FECH	PDGFRB	SLC5A6	HNRNPH2	TNR	PIGG	TP63	MBOAT7	CASK	TUFM	STT3A	COL1A1	NDUFS1	MCM5	GATM	SON	SURF1	HADHA	NF1	CXCR2	CD320	C3	DPH2	SPIDR	CADM3	NPC1	PLXNA1	KISS1	CACNA1A	WDR11	DLG4	NUP133	WNT10A	DUSP6	SMPD1	MRPS34	TECR	TIE1	WLS	EMILIN1	DHX38	SLC35A1	SCN9A	AIMP2	SIN3A	ZNF513	CAV1	COPB2	NHP2	ZAP70	PYGM	TNFSF11	OGDH	IKBKG	NFIX	FBP2	ACADS	NBAS	HABP2	AMPD2	CIDEC	IDH3A	NLGN4X	YARS1	MTMR14	PDHA1	LRP12	GLS	LMNA	FLT4	PDSS1	GABRG2	B3GALNT2	SCNN1G	OPA1	TGFBI	EIF3F	GNPTAB	DSP	GNB2	NPC2	TCIRG1	PITPNM3	AGBL5	EDEM3	CCDC115	SFRP4	NAGLU	PCDH12	P3H2	AGK	WDR26	FOXC1	PSMC3IP	LIMS2	LETM1	ATP7B	TPO	DYRK1A	SLC39A4	NDUFAF8	UROC1	SYNGAP1	VPS33A	NAGA	KCNJ2	ZBTB18	RCBTB1	CREBBP	ABCB11	PRDM16	GEMIN5	ANTXR2	LAMA5	TOR1AIP1	AARS1	ANTXR1	RIN2	SPEG	MACF1	CLTC	MSX1	PNPT1	NDUFAF6	SI	XIAP	BVES	ZMYND10	CHD1	CASR	MCCC1	GFI1B	UFSP2	SLC24A1	TTPA	EIF2B4	PRX	REL	SPATA5	COL12A1	ZNF526	TMTC3	EBF3	TCTN2	ABHD12	RPGR	BCAS3	MSH5	GOSR2	MICAL1	SGSH	SLC30A9	PET117	DCDC2	FMR1	SUPT16H	LIG3	PNPLA6	RMRP	RPS10	USB1	DYNC1H1	SLC26A3	CAVIN1	SATB2	COA7	CASP10	GPAA1	SELENBP1	SLC52A3	NGF	TLR7	IREB2	DHX30	PTPRC	SLC12A3	CLIC5	MAD2L2	ADA	PRPF8	GABRB3	ADNP	GHR	TSEN15	HID1	PADI3	SPRY4	RAF1	JAK3	CD19	COX10	SLC33A1	MS4A1	BCL10	CHCHD10	FCSK	CEP78	RPS29	IL6ST	TMEM240	WFS1	COLQ	CRB2	CYP11B1	PRMT7	TLR8	COL4A1	MAPK8IP3	IGHM	CCT5	CARD9	DSTYK	PKHD1	CASQ2	ATP2A1	BTK	MRPS25	DGUOK	ZMIZ1	PRKAG2	YIF1B	NPHS2	SLC25A19	POLR3A	FLNC	ZSWIM7	PCDH15	MARCHF6	KIF14	SPTBN2	SPTAN1	SIGMAR1	FGF13	TBL1XR1	JAGN1	SH2D1A	MMADHC	FERMT3	YWHAG	KLF1	FOXE3	ZNF462	TCF3	TWNK	APRT	SLC22A5	ALG11	YIPF5	CLRN1	PRDX1	TGM3	HINT1	VHL	HNRNPU	CXCR4	SLC1A2	FLVCR1	IRF3	NDUFA8	COL6A1	HYAL1	ASPA	TWIST1	MBD4	HK1	ITPA	CARS2	MMP9	ANO5	TUB	RPSA	RAG1	PIK3CD	CSF1R	GNRHR	CHST6	PLG	HAVCR2	SLC12A6	SOST	TBR1	CAV3	MBD5	GABBR2	SGCA	ADAM22	KCNH2	KMT2B	TSC1	SYNE1	CD3E	NDUFS8	FLG	RAB7A	F13A1	WDR81	OSTM1	ERCC5	PHKA2	SAMD9	HSD11B1	CLMP	FANCL	FTL	SLC16A1	DLAT	SCN3A	TP53	MTPAP	DNAH11	STEAP3	OTC	BCL11B	RETREG1	EXOSC5	SDHD	STX11	LMBRD1	SLC17A9	RAB27A	MTFMT	ZNF711	SLC4A1	IDS	NR4A2	DOCK3	RORC	RDX	MTHFR	SH3TC2	DCX	CPLX1	FGA	NR0B1	UBE2A	ADGRV1	DLD	IL10RB	SLC46A1	ABCB4	OPHN1	TBX21	POLR1C	WDR73	TMPRSS3	TTN	CWF19L1	ALG13	DEAF1	SEMA7A	SLC25A26	MRPS7	TUBB4B	CHD5	HGSNAT	TARS2	ARSK	CD3D	HMGCS2	NUP160	TULP3	CRBN	MYL3	BBS2	MYPN	TRIP13	BLNK	DTYMK	NBEA	SEC23B	G6PD	ATP1A1	TRAPPC2L	DZIP1L	PNPLA8	CAMK2G	ALDH6A1	NSRP1	AP3B2	CYBB	EFHC1	PUS3	TLCD3B	SLC6A2	SGCB	FOCAD	IKBKB	ATR	SPATA7	NHLH2	PEX10	SETBP1	CAD	SNAP29	LGI1	PYROXD1	CHRNA2	TNFRSF4	ATG5	HPS5	PPCS	HSD11B2	MEF2C	MYBPC3	MIA3	CLDN11	AGPAT2	MICOS13	LMBRD2	GPR101	SCN4B	TAF2	TTC26	PDE11A	MT-TN	DYNC1I2	MAF	TIMM8A	APOB	DHPS	ZNFX1	RACGAP1	PEX16	CD59	ATAD3A	PHKG2	CD40LG	MVK	IQSEC2	COPA	RNU4ATAC	SPR	MYO7A	RNASET2	SUCLA2	ZSWIM6	TERT	FGF17	FZD4	MGME1	BAAT	FSHR	FAR1	D2HGDH	THAP1	PDZD8	IARS2	CYP3A4	NACC1	MATN3	POLA1	PRSS12	AXL	DOCK8	PRF1	DOCK2	IFNAR1	CNTN2	PIGK	NARS2	FBXL3	MORC2	OAT	SUCLG1	TMEM38B	ATP2B1	LGI3	GALE	SKIC2	CD4	SMARCA4	TNNT2	ALG6	CACNA2D2	SNRPN	GALC	GRM1	PDP1	NCDN	COX4I2	ALDH5A1	EPO	TUSC3	KDM5B	TINF2	PHOX2B	HPCA	PRDM13	SYT2	COL1A2	MIR184	BFSP1	PRRT2	PAK1	MLPH	GRXCR2	FGD4	GLA	PDGFB	FRG1	MYOT	GABRA1	ZFYVE19	ATP11A	RSPH9	GMPPA	PSAP	DDOST	SRD5A3	HDAC4	MCM9	TMEM106B	JPH1	DOK7	ICOS	RPGRIP1L	RELN	LCK	PDE6H	SETD1A	POU1F1	TNFRSF11B	RUBCN	SCN11A	NPHP1	VWA1	GYG1	DPF2	MLC1	TRPM6	LAMA2	PRPF4	CYP2R1	SDHB	RAG2	PRKAR1B	COG2	UNC13D	IKZF1	NAA20	MCOLN1	CARMIL2	EPRS1	RP1	CHM	MAP2K2	AFG3L2	CYB5A	EIF2B2	ERCC4	CACNG2	HCN4	PIGA	MRPL44	MYH14	COLGALT1	DDB1	BMP15	LTBP1	KERA	PTS	SLC39A7	ZNF142	PHEX	RSRC1	ACOX2	GIMAP5	SLC18A2	RIPK1	GATAD2B	PRKN	KIF3B	ATM	DPAGT1	PLCB1	CLN3	MAP1B	KCNC2	CORO1A	HUWE1	LRRK1	SET	DNAH9	MRE11	NFU1	RLIM	CFH	GGCX	GUSB	WWOX	FYCO1	UQCRH	PRKAR1A	CHD2	RHOH	PPA2	TPM3	POGZ	LIPN	NDUFAF3	SASH1	PET100	MTHFD1	VARS1	NDUFA12	VDR	CCDC141	PPP3CA	DCLRE1B	SLC25A1	ITGA3	KRT83	CFL2	ACTL6B	CDKL5	NDUFV1	IGKC	RAX2	CLDN16	MCCC2	EHHADH	PMP2	MIPEP	EXT1	ARG1	UCHL1	MYRF	ROR1	VARS2	PSMC1	ADSL	GRIA3	ADCY3	ANGPT2	EEF1A2	MPDU1	PDE10A	PRKRA	GNS	GCK	TNNI3	PTH	RPL35A	CARD11	MARS2	LRIG2	CD46	CD164	KCTD17	SOD1	NFE2L2	TRAPPC10	ALPK1	CRPPA	NFKBIA	SLC2A10	DYSF	ADAMTS19	CCDC65	INSR	GMPPB	STING1	LPIN1	ALPK3	IDUA	SLC19A1	TBCD	SARS2	KCNT2	GARS1	HYDIN	NDUFB8	SLC19A2	GALNT3	NSUN3	PKLR	SLCO2A1	RBCK1	MED12	PRNP	GEMIN4	MYH9	TBL1X	PUS7	RPS26	ABCA4	EMC10	GLRA1	NOTCH2NLC	CYBA	AGA	FGB	QDPR	POMGNT1	FOXP2	ISCA1	PPARG	PSMG2	MID2	GH1	EPG5	TXN2	NUS1	SEMA3E	DARS1	CD247	KRT86	MAFA	FOXP3	RDH12	HPD	ASPH	CSTB	AASS	BCS1L	FEZF1	SMG9	OAS1	MPZL2	LMNB2	DNAAF4	GNAL	PCDHGC4	TTI2	H4C5	TNFAIP3	L2HGDH	REST	POMK	SLC6A3	CCDC134	TOGARAM1	MANBA	MTRFR	IL2RB	BOLA3	METTL23	KIF12	CCDC39	EIF2AK3	ECM1	DDHD1	SLC7A6OS	GP6	COL9A1	AKT1	POMT2	SBF2	BRWD3	SHANK3	AGXT	CHRNA4	LINS1	CUX2	WNK1	CAMK2B	CPLANE1	GJB3	DSC2	SLC25A15	GRIN2B	SLC39A5	TAF13	FDXR	NEXN	COA8	CHP1	TGFB3	LEPR	ATP5MC3	COPB1	TRIT1	PIGP	CYP1B1	TPP1	ABHD16A	CARD14	AAAS	LDHA	TET2	SLC13A3	STK11	TFG	PIGS	CUL3	PARN	NDUFB9	SOBP	CYP7B1	HADHB	NAXD	KAT6B	PKD2
HP_ABNORMAL_CIRCULATING_AMYLASE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_AMYLASE_CONCENTRATION	DNAJC21	EFL1	SRP54	NFS1	CNOT1	SLC4A4	SBDS
HP_HYPOAMYLASEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOAMYLASEMIA	DNAJC21	EFL1	SRP54	CNOT1	SBDS
HP_NEGATIVISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEGATIVISM	APOL2	DAOA	MTHFR	SYN2	HTR2A	CHI3L1	COMT	APOL4	DRD3	RTN4R
HP_ABNORMAL_ISOHEMAGGLUTININ_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ISOHEMAGGLUTININ_LEVEL	ARHGEF1	PRKCD	SLC35C1	CD19	CR2
HP_DECREASED_SPECIFIC_ANTIBODY_RESPONSE_TO_PROTEIN_VACCINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SPECIFIC_ANTIBODY_RESPONSE_TO_PROTEIN_VACCINE	CD247	ARHGEF1	REL	RIPK1	AICDA	ALG12	CD70	CD81	CTPS1	TCF3
HP_COMPLETE_OR_NEAR_COMPLETE_ABSENCE_OF_SPECIFIC_ANTIBODY_RESPONSE_TO_TETANUS_VACCINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMPLETE_OR_NEAR_COMPLETE_ABSENCE_OF_SPECIFIC_ANTIBODY_RESPONSE_TO_TETANUS_VACCINE	CD247	ARHGEF1	AICDA	ALG12	CD81
HP_PARTIAL_ABSENCE_OF_SPECIFIC_ANTIBODY_RESPONSE_TO_TETANUS_VACCINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARTIAL_ABSENCE_OF_SPECIFIC_ANTIBODY_RESPONSE_TO_TETANUS_VACCINE	REL	RIPK1	CD70	CTPS1	TCF3
HP_DECREASED_SPECIFIC_ANTIBODY_RESPONSE_TO_POLYSACCHARIDE_VACCINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SPECIFIC_ANTIBODY_RESPONSE_TO_POLYSACCHARIDE_VACCINE	B2M	TNFRSF13C	ICOS	HYOU1	TNFRSF13B	CD19	CR2	CARD11	CASP8	SASH3	IKBKG
HP_PARTIAL_ABSENCE_OF_SPECIFIC_ANTIBODY_RESPONSE_TO_UNCONJUGATED_PNEUMOCOCCUS_VACCINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARTIAL_ABSENCE_OF_SPECIFIC_ANTIBODY_RESPONSE_TO_UNCONJUGATED_PNEUMOCOCCUS_VACCINE	TNFRSF13C	ICOS	TNFRSF13B	CD19	CR2	SASH3
HP_ABNORMAL_FRONTAL_BONE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FRONTAL_BONE_MORPHOLOGY	COX5A	CTSK	FANCB	CYP27B1	IFT122	IL11RA	CUL7	KIAA0753	CPLANE1	UBE2T	PDHA1	DEAF1	HNRNPU	FGFR2	KYNU	GNE	AIP	CASZ1	COL11A1	ALX4	IPO8	DYNC2I1	KRAS	EXTL3	PIGL	IGF2	IFT140	FZD2	WDR35	TCIRG1	MEGF8	NSD2	CTNS	SPECC1L	ERF	HSPG2	SEC24D	CHD1	RAB39B	GLI3	MMP2	MBTPS2	ZEB2	RPS6KA3	MED12	NALCN	CCDC8	KAT6A	KCNJ1	SPOP	OBSL1	FGFR3	CAMKMT	SKI	UNC80	DICER1	SLC3A1	PALB2	FLNA	HK1	CREBBP	POLR3A	GJA1	DYNC2H1	TOPORS	BRCA2	H3-3B	MTX2	DVL1	HSD17B4	TRIP13	PIGN	PAK1	B9D2	LRP4	AP1G1	MEN1	AGO2	PTCH1	CTNNB1	PRDM16	STAG2	KNSTRN	STAT3	PPP2R5D	TCF20	FLII	MAN1B1	KIAA0586	RAD51C	NCAPG2	FGFR1	KIF7	LBR	RUNX2	IFT43	SKIC3	CSPP1	NEU1	BAP1	PDPN	MAD2L2	DLX3	FANCA	SOX5	ACP5	RAI1	SMARCD1	MED13L	GATAD2B	PDE4D	POU1F1	RECQL4	COL11A2	ATP6V1B2	GRIN1	LARS1	PIK3R1	BRIP1	MOCS1	SUPT16H	CDH2	CTBP1	USB1	DHCR24	SPEN	PTEN	GPC6	RFWD3	P4HB	ROR2	ZNF148	SATB2	PTHLH	PPP1CB	CYP2R1	CRPPA	PDE6D	IDUA	SOX9	PCGF2	BUB3	EBP	CSGALNACT1	RERE	PPM1B	COL2A1	FBN1	SPRTN	GABRD	PTDSS1	EDA2R	GNB2	ACAN	POLR1D	TCOF1	FUCA1	INTU	DSE	GMNN	CWC27	OFD1	BRCA1	CBL	GRB10	GK	WNT5A	SOST	MTHFR	NFIA	ANTXR1	B3GLCT	TBCE	PRMT7	FLNB	SUFU	MMP23B	MID1	TWIST1	POR	PHEX	ANKRD11	HBB	CCDC22	DVL3	PEX5	EP300	NRAS	MAN2B1	FLI1	SON	CHRNA7	PREPL	B3GALT6	CKAP2L	GLB1	ERCC4	SNX10	HRAS	C12orf57	COG4	HBA2	NXN	GJA8	HOXD13	KLF1	PAM16	OCRL	GYPC	CLCN7	EDA	NONO	NLRP3	MAGEL2	TRIO	GPR101	ACOX1	COL9A2	TBX4	AMER1	NFIX	RSPRY1	BUB1	VDR	POLE	FANCC	EIF5A	HBA1	ITCH	CLCN3	BGN	MPDZ	HDAC6	HMGA2	DDX59	RNPC3	POLR1C	MEG3	PLCH1	RNU12	MBD5	TCTN3	ALDH18A1	ARID1B	INPPL1	MTOR	TGFB1	SIK3	KATNIP	THUMPD1	TONSL	SMOC1	SLC39A13	EFNB1	TRIP11	BUB1B	GNS	PIK3CA	SMARCA2	CEP57	IFT80	CPLX1	ADK	TRPS1	SNX14	JAG1	FBN2	MAP2K2	SIX2	FH	NFKBIA	SEC23A	PEX7	LETM1	PTCH2	IQSEC2	TBCD	LUZP1	PURA	BRAF	PIK3CD	KIDINS220	WDR19	MED27	KDM1A	FANCD2	DDX6	TRIM37	OPHN1	SPTA1	EMC10	PLA2G6	PIK3R2	DYNC2I2	FANCI	PIGG	SMG8	KCNAB2	UGP2	PRKD1	BICRA	MOCS2	CHD5	NELFA	XRCC2	TIMM50	ALPL	SLC26A2	CDKN1C	KPTN	TBC1D24	IKBKG	CDC42BPB	EDARADD	BMPR1A	EPB41	YWHAE	DENND5A	MITF	PLAG1	SALL4	EDAR	PRKCZ	SETBP1	CACNA1C	ALDH6A1	ATIC	TOGARAM1	DLK1	H3-3A	MADD	COL1A1	WASHC5	SOX2	IFT52	TMEM216	CHST3	ALG9	ORC1	ALX1	PRIM1	FANCF	HDAC4	PAFAH1B1	POLR1B	BRWD3	INTS1	KMT2B	CHD3	GJA5	SIX6	LIFR	COL1A2	FANCM	NSD1	SMC3	SLX4	VANGL2	UBE4B	TTC26	PYCR1	LEMD3	FANCL	EPB41L1	DLX5	CRIPT	RTL1	NPR2	NAA10	MSX2	SCNM1	TBX15	ATAD3A	DDR2	NTNG2	SIN3A	HERC1	ATP6V0A2	SLC34A3	B3GAT3	COX4I1	FANCE	LRP5	MAP2K1	FANCG	FAM149B1	APC	FMR1	SPTB	RAD51	D2HGDH	ARID2
HP_HYPERPLASIA_OF_THE_MAXILLA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPLASIA_OF_THE_MAXILLA	WDR26	HBB	SIN3A	SOX5	AP2M1	SOBP	ZBTB11
HP_MOON_FACIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOON_FACIES	PRKAR1A	CDH23	TP53	PDE11A	PDE8B	GNAS	H4C5	ARMC5	USP48	BRAF	ATRX	PRKACA	XYLT1	USP8	NR3C1
HP_ABNORMAL_CARDIAC_TEST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CARDIAC_TEST	CAV3	NOS1AP	SCN5A	ANK2	CALM2	CALM3	KCNE1	DSG2	TTR	KCNE2	SNTA1	SCN10A	CACNA1C	CALM1	TBX5	SCN4B	TRDN	KCNH2	KCNQ1	KCNJ5	AKAP9	SVIL	NPPA
HP_ABNORMAL_CARDIAC_EXERCISE_STRESS_TEST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CARDIAC_EXERCISE_STRESS_TEST	CAV3	NOS1AP	ANK2	CALM2	CALM3	KCNE1	KCNE2	SNTA1	SCN10A	CACNA1C	CALM1	TBX5	SCN4B	TRDN	SCN5A	KCNH2	KCNQ1	KCNJ5	AKAP9
HP_ABNORMAL_CARDIAC_BIOMARKER_TEST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CARDIAC_BIOMARKER_TEST	SCN5A	DSG2	TTR	SVIL	NPPA
HP_ABNORMAL_CIRCULATING_DEHYDROEPIANDROSTERONE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_DEHYDROEPIANDROSTERONE_CONCENTRATION	TERT	TP53	STAR	NNT	TXNRD2	CDKN2A	PRKAR1A	MC2R	CYP17A1	ZNRF3	CTNNB1	HSD3B2	POR	MRAP
HP_MYOPIC_ASTIGMATISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOPIC_ASTIGMATISM	MAPK8IP3	VARS1	CNGA3	KIF11	ARPC4	TFE3	COL1A2
HP_FOOD_ALLERGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOOD_ALLERGY	IGKC	RBM8A	SLC27A4	FOXP3	PGM3	JAK1	IL6ST	SOX6	SPTBN1	FOCAD	CAMK2B	ABCC9	SPINK5	IGHG2	DOCK8
HP_ABNORMAL_BLOOD_CARBON_DIOXIDE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_CARBON_DIOXIDE_LEVEL	MAP3K20	HACD1	MYL2	SELENON	ACTA1	TPM3	RYR1	NDUFS8	PHOX2B	CACNA1S	LRP12	TPM2	ITGA7
HP_HYPERGASTRINEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERGASTRINEMIA	CDKN2C	CDKN2B	CDKN1B	MEN1	MCOLN1	CDKN1A
HP_ABNORMAL_CSF_CARBOXYLIC_ACID_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CSF_CARBOXYLIC_ACID_CONCENTRATION	GLUL	PDHX	DLD	DLAT	ALDH5A1	ADK	AASS	GLYCTK	NDUFA4	PSAT1	BOLA3	PDHA1	NFU1	LONP1	PET117
HP_ABNORMAL_CSF_PYRUVATE_FAMILY_AMINO_ACID_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CSF_PYRUVATE_FAMILY_AMINO_ACID_CONCENTRATION	NDUFA4	PDHX	PDHA1	DLAT	LONP1	PET117
HP_ABNORMAL_MANDIBULAR_RAMUS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MANDIBULAR_RAMUS_MORPHOLOGY	GNAI3	EDN1	NFIX	PLCB4	KCNJ2	HMX1
HP_ABNORMALITY_OF_FRONTALIS_MUSCLE_BELLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FRONTALIS_MUSCLE_BELLY	CHAT	SYT2	COL13A1	VAMP1	MYO9A	SLC5A7	SNAP25	AGRN	SLC25A1	SLC18A3
HP_ABNORMALITY_OF_CARTILAGE_OF_EXTERNAL_EAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CARTILAGE_OF_EXTERNAL_EAR	GNAI3	EDN1	MGP	STEEP1	TWIST1	ABCC6	TCTN3	NSD2	FGFR2	ZBTB20	FGFR3	HS2ST1	DHX30	PLCB4	ENPP1	ZNF462
HP_ABNORMAL_HEAD_BLOOD_VESSEL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEAD_BLOOD_VESSEL_MORPHOLOGY	POLR3A	MT-CYB	DNAJC30	BCL7B	NEK1	ASAH1	MLXIPL	BEST1	ABCC6	VPS37D	SEC24C	ABCG5	NDE1	NCF1	MT-ND5	TULP1	LDLRAP1	CYP1B1	COL4A1	PTDSS1	ABCG8	EIF4H	GALC	HIRA	MT-ND4	EFEMP1	GLB1	TBX1	GTF2IRD2	LIMK1	MYOC	NEU1	MT-CO3	FKBP6	MT-ND6	MT-ND2	METTL27	LDLR	NF1	RFC2	IGFBP7	ELN	TBL2	TMEM270	SMPD1	MT-ND4L	GP1BB	ARVCF	GM2A	GTF2I	JMJD1C	F12	CTSA	GTF2IRD1	MT-ATP6	APOB	PRPF3	TMEM231	RREB1	LRP5	PSAP	BUD23	CLIP2	MT-ND1	ANTXR1	LMX1B	SELENOI	HEXB	HOXA1	PCSK9	NDP	COMT	UFD1	STX1A	BAZ1B	ENPP1	FZD4	DARS1
HP_ABNORMAL_ODONTOID_TISSUE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ODONTOID_TISSUE_MORPHOLOGY	ADGRV1	PAX9	FAM20A	CTSK	VPS37D	CYP27B1	IFT122	LRP4	TSC1	TRIP11	WNT10B	CNNM4	POLR1C	LAMB3	GPR68	NDUFB11	FBXO28	ERCC6	ENAM	OCRL	METTL27	PGAP1	COL17A1	SATB1	TBX1	STX16	FGF3	DHCR7	FAM83H	SEC24D	COX7B	CLEC7A	GP1BB	MYO7A	LONP1	ESPN	HCCS	GTF2IRD1	ITGA6	MBTPS2	RECQL4	ERCC4	TNFRSF11A	GJA1	RREB1	CCDC8	NUP133	WDR35	MMP1	OBSL1	SMARCA2	ERCC8	PCNT	PIK3R1	GTF2H5	SLC29A3	KCNJ2	CREBBP	HLA-DQB1	BCL7B	MLXIPL	TRAIP	COL1A1	CDH23	NCF1	FAM20C	TP63	USH1C	FGFR3	MSX1	AMELX	ORAI1	TRAF3IP2	LRP6	MPLKIP	ITGB6	FGF10	LAMA3	SCUBE3	DSPP	GNAS	GLB1	FKBP6	AXIN2	GALNT3	TBCE	WDR19	RFC2	RUNX2	PPIB	COG6	GTF2E2	TBL2	GRHL2	PORCN	HRAS	TRIM37	NECTIN1	GTF2I	ATR	DLX3	PDE4D	IL17F	PIK3C2A	CLIP2	USH1G	TTC7A	TGFA	PEX6	CENPE	P4HB	TMEM165	CENPJ	STX1A	ITGB4	DNAJC30	RELT	ERCC3	SLC10A7	CLDN19	LTBP3	ODAPH	CUL7	ZNF469	NF1	GNB2	COL1A2	HIRA	POLR1D	AMTN	PLEC	TCOF1	OFD1	SLC13A5	WDR72	FGFR1	KRT5	NUP85	TARS1	CEP152	IFT52	ARVCF	PEX1	PTEN	FGFR2	POLR1B	CARS1	KLK4	BUD23	RAD21	DNAJC21	CIB2	TCIRG1	COMT	IRX5	BAZ1B	PHEX	ELN	HLA-DQA1	AKT1	MIA3	AMBN	SLC24A4	SLC35A2	ERCC2	EP300	RNF113A	SEC24C	WHRN	PCDH15	SUMO1	LAMC2	CLDN1	ATRIP	ALDH3A2	ELMO2	FLNB	FERMT1	EIF4H	B3GALT6	IFT43	PLK4	IL17RA	GTF2IRD2	LIMK1	MMP20	ERCC1	PAK2	COL7A1	SMARCD2	SERPINH1	IRF6	RHOA	STIM1	AIRE	NECTIN4	RBBP8	USH2A	EDA	TMEM270	DDX59	EDARADD	JMJD1C	GALNS	CYP2R1	ANAPC1	FKBP10	PTDSS1	APC	WNT10A	ACP4	LMX1B	PDZD7	IL17RC	KRT14	SP6	VDR	UFD1	SMOC2	ROGDI	IKBKG
HP_ABNORMAL_INTERNAL_CAROTID_ARTERY_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_INTERNAL_CAROTID_ARTERY_MORPHOLOGY	NDE1	HOXA1	LDLRAP1	PCSK9	LDLR	NF1	LMX1B	APOB	ABCG5	ABCG8
HP_BRONCHOCONSTRICTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRONCHOCONSTRICTION	SCGB3A2	ALOX5	CCL11	IL13	PLA2G7	PTGER2	TNF	ADRB2	HNMT	MUC7	TBX21	GALNS	HLA-G
HP_EXANTHEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXANTHEM	UNC13D	TET2	RUNX1	STXBP2	ANK1	STX11	IKBKG	SRSF2	SPTB	NLRP3	EPB42	BTNL2	SLC4A1	ZNFX1	CBL	KIT	TNFRSF1A	HLA-DRB1	SPTA1	MVK	PRF1	ASXL1
HP_ABNORMAL_LUNG_DEVELOPMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LUNG_DEVELOPMENT	PIGN	GRIP1	PLXND1	DNAJB13	CHRNG	KAT6B	HSPG2	WDR19	GLE1	RARB	FGF20	TRIP11	GPC4	LBR	LTBP4	MYOD1	HYLS1	LMNA	DNAAF4	ETFA	ADGRG6	RSPH3	MEG3	DYNC2I1	GPKOW	FRAS1	CHRM3	STK36	TRIP4	LMOD3	ODAD4	KLHL40	WDR35	CFAP300	DZIP1L	TBX1	NSD2	WNT3	SPECC1L	COQ7	DHCR7	MYRF	TCTN3	GREB1L	GLI3	GP1BB	AGT	CCDC65	ZIC3	TAPT1	LONP1	BUB1B	ZMPSTE24	RREB1	AARS2	TTC21B	CEP57	IFT80	FGFR3	TMEM94	CPLX1	PEX1	FOXJ1	NME8	DGCR6	SLC26A2	MUSK	FREM2	WT1	NPHP3	DPAGT1	ODAD2	TUBA1A	CHRND	DNAH1	DNAH5	GFRA1	ZFPM2	DYNC2I2	IFT172	FANCB	VANGL1	SPAG1	DYNC2H1	IFT81	TXNDC15	TRIP13	WNT4	FAM20C	LETM1	NUP88	DNAH11	BCOR	CFAP221	NEK8	RSPH4A	NEK10	MKS1	HYDIN	NEB	PTH1R	SPEF2	CFAP298	NKX2-6	RSPH1	RYR1	FLNB	CC2D2A	COL2A1	PORCN	CHUK	MCIDAS	RSPH9	ETFB	ALG3	GAS2L2	DNAAF2	BMPER	PIGG	NEK9	DNAAF5	PRRX1	ALDH1A2	PHGDH	CEP55	PI4KA	CEP120	STRA6	NELFA	RBM10	AGTR1	ZMYND10	ESS2	BUB3	DGCR2	FOXF1	LRRC56	MYH11	DYNC2LI1	RET	MKKS	GAS8	OFD1	HIRA	CDC45	NAA10	MEIS2	ACTA1	DNAL1	REN	INTU	SETBP1	EVC2	KLHL41	DLK1	EMG1	CSPP1	ARVCF	DGCR8	PUF60	DONSON	PTEN	RSPO2	DNAAF3	KIAA0586	SF3B2	GLI1	DNAAF1	ODAD3	NEK1	CCDC40	ATP5F1A	WNT9B	SMO	ITGA8	GATA6	SLC25A24	B3GALT6	COMT	DNAI2	LGI4	PKHD1	DNAH9	AKT1	FLNA	FUZ	DOK7	SEC24C	TTC12	SON	DNAAF11	LIFR	RPGR	ETFDH	DNAI1	PIGT	FLCN	IFT140	MCTP2	NDUFB10	RTL1	SLC18A3	ALG9	GPC3	RLIM	CCDC103	GDF1	CCNO	CHRNA1	JMJD1C	DNAAF6	NSDHL	ACE	PIEZO2	MYH3	GLDN	RAPSN	ASCC1	HOXD13	DRC1	TRPV4	CTBP1	CCDC39	GBA1	ODAD1	BUB1	NODAL	UFD1	EVC	PRKACA	INVS	PRKACB