HP_MULTICYSTIC_KIDNEY_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTICYSTIC_KIDNEY_DYSPLASIA	GPC3	B9D2	PEX1	B9D1	OFD1	DHCR7	HDAC8	KAT6B	RAD21	CHRM3	TRIM32	BBS12	PEX11B	TMEM216	NIPBL	RSPO2	MCTP2	MYH11	IFT172	PEX3	ROR2	BBS4	PIEZO2	BBS1	MBTPS2	TMEM67	LAMA3	TCTN2	PEX10	PEX13	NPHP3	HDAC4	CC2D2A	FRAS1	LZTFL1	AMER1	LMOD1	SDCCAG8	PEX5	BBS9	PEX26	IFT27	BRD4	INPP5E	FIBP	SPOP	CSPP1	TMEM237	BBS5	MKKS	TCTN3	IFT74	HNF1B	LHX1	CEP290	SCAPER	MYLK	CEP19	HOXD13	ARL3	BBS10	TXNDC15	TCTN1	TFAP2A	SMC3	BBS7	CD96	FLI1	PEX14	RPGRIP1L	ARL6	SH2B1	TBX18	FREM2	BBIP1	BUB1B	LAMC2	ZEB2	SALL1	PEX2	BBS2	PEX6	TMEM107	PAX2	MKS1	PEX19	WDPCP	BUB1	LAMB3	CFAP418	TTC8	EYA1	GPC4	TRIP13	PEX12	B3GLCT	RPGRIP1	ACTG2	NXN	GREB1L	NPHP1	BUB3	GRIP1	PIGN	CEP57	SNRPB	WNT3	PORCN	ARL6IP6	PEX16	SMC1A	SIX1	SIX5	TMEM231
HP_RECURRENT_URINARY_TRACT_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_URINARY_TRACT_INFECTIONS	CIITA	KAT5	FANCM	GANAB	EFEMP2	MLXIPL	ADNP	MYL9	BNC2	CHRM3	RAD51	CISD2	KANSL1	TXNRD2	RFXANK	PKD2	DYRK1A	RFXAP	MNX1	ELN	SLC46A1	TMEM270	GTF2I	FANCC	FOXC2	BRIP1	NCF1	IL17RA	RFC2	CLEC7A	FARSB	PNP	LAMA3	RFX5	LIMK1	ISL1	STAR	EIF4H	LRIG2	HSPA9	MED12	DZIP1L	WFS1	FANCF	ERCC4	GRHPR	IGKC	SLC5A2	SLX4	FANCD2	SLC7A9	FKBP6	FBLN5	CREBBP	STX1A	IL2RB	CHRNA3	ALG9	BAZ1B	IL17RC	AGXT	MAN2B1	IGHG2	BLM	ARL3	BUD23	IL17F	CRKL	MRAP	FANCL	RAD51C	LTBP1	FANCE	EN1	DNAJC30	MINPP1	THOC6	HPSE2	ZNF699	TRAIP	RNU7-1	HLA-B	BICC1	BCR	GTF2IRD2	CLDN16	FLVCR1	CFI	PALB2	VPS37D	ATRX	UBE2T	NBN	PRKCD	SAMD9	EP300	MAD2L2	LAMC2	BTK	NNT	FANCA	BCL7B	PIK3CD	TNXB	CR2	FANCG	ATP7A	KNSTRN	TP63	SMARCA2	LAMB3	MSN	ALMS1	SLC3A1	SLC35C1	DNAJB11	PEPD	POLR3A	HOXA13	EXT1	LMNB1	SHANK3	SATB1	RFWD3	MAPK1	KCTD1	BRCA2	XRCC2	MC2R	METTL27	TBL2	CLIP2	TRPS1	CLDN19	GTF2IRD1	TRAF3IP2	WASF1	FANCB	APRT	BRCA1	FANCI	PKD1	POLR3GL	PKHD1
HP_NEUROGENIC_BLADDER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEUROGENIC_BLADDER	FUZ	ATP13A2	FBXO7	GJA1	TBCK	FARS2	PEX3	MAP3K7	TRAPPC12	EPHB4	VANGL1	PLP1	CHRNA3	ERCC6	CISD2	ATXN3	SNCA	ELOVL1	TBCD	MNX1	COG7	GBE1	VPS11	RASA1	COG5	ACER3	WFS1	CLCN6	ARNT2	MTFMT	EN1	ERCC8	PPOX
HP_URINARY_URGENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URINARY_URGENCY	ATXN8OS	UBAP1	ABCD1	NR4A2	ATXN2	HSPD1	PI4KA	ADH1C	MT-TT	ATXN10	WASHC5	GBA	RTN2	MARS2	GLUD2	SPG11	TBP	MED27	SPAST	LRIG2	B4GALNT1	PINK1	ALMS1	KIF5A	ALDH18A1	CACNA1G	TRPV4	SACS	LMNB1	MAPT	CPT1C	REEP1	GNB2	ATL1	KPNA3	SPG7	HPDL	KCNC3	COQ2	ZFYVE26	SNCAIP	NIPA1	FA2H	ATP13A2	FAR1	SNCA
HP_HYPOPLASIA_OF_THE_UTERUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_UTERUS	GNRHR	FOXL2	PROK2	GNRH1	SPIDR	TACR3	KISS1R	NIN	HCCS	FGF17	BMP15	IRF6	COX7B	STRA6	CYP11B1	DCAF17	SPRY4	C14orf39	DHH	ESR1	KISS1	WNT4	NUP107	TAC3	NSMF	BMPR1B	B3GLCT	CYB5A	FIGLA	NR5A1	LARS2	MRPS22	CLPP	NDUFB11	SOHLH1	ADH5	ERAL1	PROKR2	CHD7	FGF8	HNF1B	WDR11	HS6ST1	FGFR1	CYP17A1	DUSP6
HP_ABNORMALITY_OF_THE_BLADDER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_BLADDER	RERE	SACS	UBAP1	ELN	COMT	NOTCH2NLC	ALS2	BIN1	MYO1H	BNC2	PRNP	CLCN4	ABCD1	KANSL1	CDKN1C	MNX1	MYH11	GATA3	FXN	GTF2I	TBCD	NCF1	DYSF	KCNQ1OT1	ATXN3	HOGA1	TBP	ATXN1	EIF4H	FAM20A	MED12	UNC45A	TGFB1	WFS1	TRIO	BAP1	LMOD1	SBF1	CEP63	PAH	CHRNA2	FBLN5	TWNK	VANGL1	IGHMBP2	SMARCE1	PRMT7	REEP2	MYF6	EXT2	EBF3	SALL4	MYCN	ATP13A2	NEFL	STIL	SPG7	TRAF7	KCNT1	RASA1	COG5	NIPA1	CLCNKB	POLG	AP5Z1	FA2H	LTBP1	ARNT2	COL5A2	SMAD3	DVL3	ATP7A	SMC3	MID1	CHD4	PSAP	MBTPS2	TIMM50	TBCK	JRK	EIF2AK2	SLC1A4	SNCA	DNMT1	HNRNPU	SHANK3	ZEB2	ARHGEF6	RTN2	DARS2	BCL7B	PDGFB	KMT2C	TNXB	KY	VPS11	CCL2	KCNJ18	COPB1	IQSEC2	NOTCH3	C19orf12	COPB2	LAMB3	DDX6	ALMS1	EYA1	FUS	ITGB4	WNT4	NIPBL	GABRB3	SLC25A4	GJA1	SQSTM1	MAPT	PEX3	POR	STAT1	ZNF711	ATRX	POLG2	WDR62	PLP1	CHD7	JAG1	KIF14	GJC2	GBA2	MYLK	RAC2	PIGN	MARS2	TERT	METTL27	ALDH18A1	GALNT2	ZFYVE26	STAMBP	PEX11B	EHMT1	APRT	USP9X	FKBP14	SMC1A	SP110	PIK3CA	SLC44A1	PBX1	FBXO7	EFEMP2	HEXB	CCNQ	SPTLC1	ASXL1	DNM2	MYL9	SIGMAR1	DBH	RAD21	CHRM3	AUH	CISD2	TRRAP	TBX1	CENPJ	GLUD2	FMR1	AFF4	CIT	RECQL4	RFC2	ARSA	MORC2	SMARCA2	CHMP2B	MCPH1	DLG3	PAX6	COL1A1	SLC25A13	FKBP6	BRD4	CREBBP	CPT1C	GBA	PDCD1	OTUD5	CABP4	HSPD1	FRMPD4	BUD23	MKKS	RAB39B	PANK2	MYOCD	HMBS	FLNA	DNAJC30	GRIP1	GBE1	KCNJ10	STAT6	ERLIN2	NR4A2	PYCR2	EPHB4	SPOP	AGTR2	CCND1	GIGYF2	CAPN1	VPS37D	EP300	RARB	FGFR2	SASS6	SALL1	SPG11	STUB1	EIF4G1	TP63	MED27	SPAST	AVPR2	FUZ	NFIA	PIGO	PSMD12	SDHAF1	USP27X	PIGQ	ATL1	HNRNPK	HPDL	SDHD	SETX	ZNF81	ANKLE2	TRPS1	CACNA1G	GP1BB	PAK3	MECP2	PPOX	KAT5	GABRA3	MLXIPL	HDAC8	SLC2A1	PLOD1	SLC5A2	HTRA1	ASPM	PMP22	WASHC5	AIP	RRM2B	GABRG2	ZNF41	SCN9A	TYROBP	GDI1	IGF2	LAMA3	SDHA	LIMK1	FTSJ1	ISL1	LRIG2	HSPA9	CACNA1S	ZMIZ1	PUF60	CEP135	TRPV4	EXT1	HNRNPA2B1	NF2	CHRNA3	FANCI	KNL1	SEMA3E	KPNA3	SLC20A2	KIF5A	ARVCF	LRRK2	NEXMIF	SLC9A7	CDK6	VCP	SMO	MTMR14	ACTG2	CDH11	SNCAIP	FGFR3	UFD1	SH2B1	DNAJC13	CCBE1	CNKSR2	FOXP1	EN1	FAR1	HPSE2	NSD1	AKT1	ITGA6	ATXN2	SLC35A2	DKK1	RALGAPA1	SLC12A3	HIRA	NPHP3	METTL5	MYRF	UPB1	SETD2	ATXN8OS	COL1A2	ATXN10	DMD	LAMC2	CACNA1H	VANGL2	FGF10	DSE	ACSL4	SMARCB1	NBN	CLCN6	PRDM8	MTFMT	HLA-B	HAAO	CDC45	SYP	NKX2-1	RETREG1	SUFU	FARS2	PLEC	MAP3K7	STK11	FREM2	DDHD2	GABRA1	REEP1	TRAPPC14	TBXT	TSPAN7	GNB2	HS6ST2	DACT1	COL3A1	WWOX	ELOVL1	GREB1L	MKS1	SEC24C	NAB2	TBL2	COQ2	IFT57	PAX2	ACER3	LTBP4	CARMIL2	MPZ	KIF1A	APC2	ADNP	IL1RAPL1	PI4KA	HPRT1	MT-TT	PIK3R5	KCND3	IKZF1	TMEM270	BPTF	AQP2	FOXF1	NCAPG2	SDHB	ROBO2	DSTYK	CRH	MID2	BICC1	STX1A	COL18A1	BAZ1B	MMP1	AGXT	CHST14	KCNC3	COL7A1	ARX	DEPDC5	RNF168	KRAS	MFSD2A	ALG13	UBE2A	SYNE1	GALC	STEEP1	ERCC8	SLC9A6	HNRNPA1	CHRNA4	GPR101	NRIP1	TAF13	JMJD1C	GTF2IRD2	CEP152	FLVCR1	SIX1	ADH1C	HLA-DRB1	DPH1	SPART	FANCF	HOXA13	HACE1	STRA6	SOX17	VPS35	UPF3B	B4GALNT1	PINK1	RPS6KA3	KCNQ1	COL5A1	POLR3A	PPP3CA	ZMYM2	TTR	CHRNB2	CFAP43	PHC1	LMNB1	PIGA	TRAPPC12	PTCHD1	PDGFRB	ERCC6	CDK5RAP2	RPL11	FITM2	COG7	ALG9	RREB1	CLIP2	HLA-DQB1	NCAPD3	GTF2IRD1	RYR1	SIX5	ZC4H2	HCFC1	CYP7B1
HP_BLADDER_DIVERTICULUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLADDER_DIVERTICULUM	ELN	COL1A1	EFEMP2	MLXIPL	GTF2IRD2	FKBP6	FBLN5	STX1A	ALDH18A1	PLOD1	VPS37D	SALL4	COL1A2	BAZ1B	COL3A1	BCL7B	TMEM270	GTF2I	NCF1	METTL27	TBL2	CLIP2	RFC2	ATP7A	BUD23	GTF2IRD1	LIMK1	TP63	LTBP1	COL5A2	EIF4H	SMARCA2	LTBP4	FKBP14	DNAJC30	COL5A1
HP_URINARY_RETENTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URINARY_RETENTION	STAT6	GABRA3	ACTG2	ABCD1	LMNB1	EXT1	ALDH18A1	ASXL1	BNC2	PRNP	VANGL1	ERCC6	HMBS	EXT2	LAMC2	NAB2	RASA1	KCNJ18	LAMA3	LAMB3	APRT	ALMS1	ERCC8	CACNA1S	TGFB1	SP110
HP_NOCTURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NOCTURIA	SLC12A3	DBH	SLC25A4	RRM2B	TWNK	POLG2	CLCNKB	POLG
HP_URINARY_INCONTINENCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URINARY_INCONTINENCE	SACS	NOTCH2NLC	ALS2	BIN1	MYO1H	SLC2A1	BNC2	CLCN4	ABCD1	HTRA1	FA2H	WASHC5	MNX1	FUZ	TBCD	GABRG2	ZNF41	SCN9A	TYROBP	GDI1	FTSJ1	TBP	ALDH18A1	TRIO	BAP1	SBF1	TRPV4	CHRNA2	IGHMBP2	SMARCE1	ARSA	NF2	MYF6	ATP13A2	SLC20A2	NEFL	SPG7	KIF5A	TRAF7	KCNT1	NEXMIF	SLC9A7	SMO	MTMR14	NIPA1	CLCNKB	AP5Z1	CNKSR2	FAR1	GBA2	AKT1	PSAP	TIMM50	DKK1	SLC12A3	JRK	EIF2AK2	SLC1A4	ATXN8OS	DNMT1	ATXN10	DMD	CACNA1H	ZEB2	ARHGEF6	RTN2	PDGFB	KY	VANGL2	CCL2	COPB1	IQSEC2	NOTCH3	ACSL4	SMARCB1	C19orf12	PRDM8	ALMS1	FUS	SYP	GABRB3	CACNA1G	RETREG1	SUFU	SQSTM1	FARS2	ZNF711	DDHD2	GABRA1	TBXT	TSPAN7	HS6ST2	MED12	TERT	COQ2	GALNT2	IFT57	PEX11B	USP9X	PIK3CA	SLC44A1	HEXB	ADNP	IL1RAPL1	SPTLC1	DNM2	SIGMAR1	AUH	HMBS	KCND3	FMR1	VCP	MORC2	UBAP1	CHMP2B	DLG3	CRH	MID2	CPT1C	LRIG2	PDCD1	CABP4	HSPD1	KCNC3	FRMPD4	ZFYVE26	ARX	DEPDC5	ALG13	RAB39B	PANK2	SYNE1	GALC	STEEP1	SLC9A6	GBE1	CHRNA4	SPG11	GJC2	FLVCR1	HLA-DRB1	AGTR2	CAPN1	HPSE2	HACE1	STUB1	COG5	UPF3B	RPS6KA3	ZMYM2	TTR	CHRNB2	CFAP43	PTCHD1	PDGFRB	USP27X	VANGL1	FITM2	ATL1	ZNF81	HLA-DQB1	PAK3	MECP2	RYR1	SPAST	ZC4H2	HCFC1	CYP7B1
HP_MEGACYSTIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEGACYSTIS	MYH11	NKX2-1	ACTG2	MYLK	MYL9	AQP2	LMOD1	TP63	AVPR2
HP_ABNORMALITY_OF_MALE_INTERNAL_GENITALIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_MALE_INTERNAL_GENITALIA	STAT6	RAD51	ZFHX3	BRCA2	VHL	SOX9	RNF43	RAD51C	SRCAP	CLDN2	AR	NR5A1	BTK	NKX3-2	CHEK2	PRTN3	CTLA4	TP53	PHF6	HLA-DPA1	MXI1	RAD51D	CFTR	NBN	CDH1	DHH	PSMB8	APC	RNASEL	CDKN2A	MRE11	BRIP1	HLA-DPB1	COL14A1	IGKC	EP300	ADGRG2	AMHR2	SRY	UNG	HNF1B	RAD50	PTEN	BRCA1	HGD	NAB2	EPHB2	IGHG2	MDM2	DHX37	CREBBP	AAGAB	PALB2	BMPR1A	KLF6	MAD1L1	CCND1	AMH	PTPN22	GREM1	BARD1
HP_INGUINAL_HERNIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INGUINAL_HERNIA	ELN	MLXIPL	TGFB3	TGFBR1	COMT	GDF11	ALDH18A1	PLOD1	ABCD4	ROR2	SKIV2L	SRCAP	SMAD4	RIPK4	GATA6	MAT2A	COL1A2	XRCC4	GPC3	AGA	CDC42	FLNB	GTF2I	EZH2	NCF1	CTCF	HSPG2	FBXW11	MBTPS2	DGCR6	LIMK1	ISL1	H19	EIF4H	TOR1A	IGF2	CC2D2A	GNPTAB	AR	TBX1	TTC26	PUF60	GPC4	FGD1	ODC1	FBLN5	INPP5E	FIBP	DSE	SLC2A10	CHRNG	RPL10	RNF13	MESP2	ARVCF	FANCB	SUZ12	NEU1	TGFBR2	CLDN19	NOTCH2	UFD1	KDM5B	CRKL	SHPK	LTBP1	COL5A2	SMAD3	NSD1	ATP7A	CDKN1C	AMH	AMHR2	MFAP5	CHST3	PLAG1	MID1	TBX3	GDF1	FZD2	PACS1	DIS3L2	EED	NOTCH3	NAA10	HIRA	GLI3	AEBP1	SETD2	SHOC2	WDR35	EFEMP2	ATP6V1A	SLC10A7	PPP2R1A	BCL7B	FBN1	SKI	KMT2C	MYH3	WASHC5	OCRL	PIGS	TP63	LFNG	DDX6	TGFB2	TMEM107	NIPBL	TASP1	FGFR1	TTC37	SETBP1	MED25	AUTS2	POGZ	GNB2	COL3A1	SLC37A4	GLB1	SEMA5A	ARID1B	MAPK1	FLNA	PLOD2	NXN	PORCN	SEC24C	PTDSS1	METTL27	TBL2	NOTCH1	BRF1	MYH11	PAFAH1B1	RPS6KA3	TMCO1	EHMT1	DVL1	LTBP4	NPHP3	FKBP14	RIC1	ESS2	PRDM5	ZEB1	MAF	NALCN	APC2	COL5A1	IDS	ADNP	LOX	COL1A1	RTL1	POLR2A	GALNS	SPECC1L	DYRK1A	TRRAP	SMCHD1	TMEM270	PPP2CA	MAN2B1	RFC2	FARSB	P3H1	ATP6V0A2	LDHD	PRKG1	B3GAT3	OFD1	PHGDH	RIPPLY2	SLC26A2	CREBBP	FKBP6	TNRC6B	ACTA2	STX1A	IRX5	MAPRE2	HMGA2	PIGY	DVL3	KIF7	PIK3R1	BAZ1B	C1S	DGCR2	MEIS2	CHST14	TGDS	ADAMTS2	ADAMTSL2	COL2A1	WDR19	BUD23	IDUA	TMEM70	CUL4B	SATB2	DNAJC30	BRAT1	SIN3A	PIEZO2	JMJD1C	DLL3	PLD1	FLI1	BCR	GTF2IRD2	RPGRIP1L	CCDC22	GNE	MEG3	UBA1	VPS37D	GUSB	WNT5A	DPH1	ATAD1	STRA6	DLK1	ATP6V1E1	SMAD2	MED12	HES7	CBS	ARX	FOXE3	GLRA1	BMPER	SEC31A	IPO8	NDUFA8	NFIA	TUBB	MYLK	ARSB	CTNND2	KDM3B	B3GLCT	GPHN	PIGQ	PYCR1	SH3PXD2B	DGCR8	ELOVL4	C1R	HEY2	CLCN4	RREB1	CLIP2	KCNQ1OT1	GP1BB	GTF2IRD1	ATP1A2	AP1S2	TMEM67	YWHAE	NAT8L	SERPINH1	CWC27
HP_PROSTATITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROSTATITIS	HGD	PRTN3	CTLA4	BTK	HLA-DPA1	PTPN22	HLA-DPB1
HP_FUNCTIONAL_ABNORMALITY_OF_MALE_INTERNAL_GENITALIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FUNCTIONAL_ABNORMALITY_OF_MALE_INTERNAL_GENITALIA	HYDIN	TSPY1	MLXIPL	ZMYND10	ARMC2	FANCM	AR	SRY	MECP2	DRC1	CCDC40	RAD51	PMFBP1	FGF17	GBA	TXNRD2	CFTR	TERB1	DNAAF5	RNF212	GTF2I	SOX9	FANCC	SOX3	DZIP1	NCF1	DNAAF2	TTC12	NR5A1	DCAF17	LIMK1	SPRY4	STRC	STAR	FSHB	EIF4H	WFS1	ANTXR1	FANCF	CFAP298	ERCC4	FANCD2	AURKC	ODAD4	LRRC56	CFAP69	GAS8	DNAH10	HSD3B2	ALG9	RSPH1	STEAP3	DNAAF3	CHD7	BRCC3	SLC29A3	OFD1	WDR11	WT1	EIF2S3	DAZ1	FGFR1	CATSPER2	DAZ4	FANCL	SOHLH1	DAZ2	SPEF2	DUSP6	BRDT	DNAH1	ERCC1	LHB	GNRHR	DNAH8	CYP17A1	DNAI1	RSPH3	MCIDAS	PALB2	RSPH9	XRCC2	MAD2L2	NNT	FANCA	BCL7B	TEX15	CFAP300	SCP2	FANCG	OCRL	SPINK2	ALMS1	CFAP65	NANOS1	C14orf39	DDX3Y	PRY	CDY1	TDRD9	DNAAF1	TEX14	LHCGR	MEIOB	NSMF	MCM8	ODAD3	POR	TTC29	SYCP2	PRKAR1A	GAS2L2	PROKR2	DNAJB13	HNF1B	USP9Y	TEX11	METTL27	TBL2	ADGRG2	CATSPER1	STK11	FANCB	FANCI	CFAP58	ANAPC1	PKD1	DNAAF6	RBMY1A1	GANAB	AIRE	DAZ3	TACR3	HSFY1	M1AP	VAMP7	KIT	CISD2	CATIP	DNAH5	DNAH9	ZFPM2	IFT172	NR0B1	ZMYND15	ANK1	CCDC39	STK36	ELN	GATA4	TMEM270	DNAAF11	BRIP1	SPAG1	ERCC8	ODAD1	MAP3K1	RFC2	DNAL1	CCNO	FOXJ1	SLX4	HJV	PKD2	DNAAF4	FKBP6	CDH23	STX1A	KDM5D	RPGR	RSPH4A	HFE	SYCP3	DHH	BAZ1B	CCDC65	VCY	TAF4B	FGF8	POLA1	BLM	WWOX	HS6ST1	CFAP70	BUD23	CFAP47	IFT74	CEP112	GNRH1	GBA2	MRAP	RAD51C	ATM	FANCE	DNAI2	DNAJC30	KISS1R	BICC1	PROK2	CNBP	GTF2IRD2	BMP2	DMRT3	VPS37D	POC1A	CLDN2	UBE2T	BCL10	PNLDC1	CCDC103	SYCE1	SUN5	STAG3	AIP	BPY2	KLHL10	ANOS1	ODAD2	DNAJB11	SPAG17	CFAP45	CTNS	CFAP410	KISS1	NEK10	TAC3	ABCD1	MEN1	DHX37	TERB2	ERCC6	RFWD3	FGFR3	DNAH2	BRCA2	CEP19	MC2R	CLIP2	DNAH11	RPS4Y2	NR3C1	GTF2IRD1	NME8	SEMA3A	CDY2A	BRCA1	CFAP221	PRY2	DNAH17	CFAP91
HP_MALE_HYPOGONADISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALE_HYPOGONADISM	GNRHR	AIRE	KISS1	PROK2	TAC3	CYP17A1	NSMF	CDH23	MECP2	ABCD1	TACR3	KISS1R	MEN1	ERCC6	WFS1	CISD2	SOX9	FGF17	IFT172	NR5A1	DHH	NR0B1	PROKR2	CHD7	FGF8	SOX3	POLA1	WDR11	ERCC8	SRY	ERCC4	EIF2S3	HS6ST1	FGFR1	GNRH1	SPRY4	AIP	FSHB	ANAPC1	DUSP6	CTNS	ERCC1
HP_AZOOSPERMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AZOOSPERMIA	FANCM	TSPY1	DAZ3	AR	SRY	TACR3	HSFY1	M1AP	VAMP7	KIT	RAD51	FGF17	DNAH9	ZFPM2	NR0B1	GBA	ZMYND15	TXNRD2	ANK1	TEX11	CFTR	TERB1	GATA4	RNF212	SOX9	FANCC	BRIP1	FSHB	MAP3K1	NR5A1	DAZ2	SPRY4	STAR	RBMY1A1	FANCF	ERCC4	MEIOB	SLX4	HJV	FANCD2	NANOS1	TEX15	KDM5D	HSD3B2	HFE	SYCP3	STEAP3	SOHLH1	CHD7	BRCC3	VCY	TAF4B	FGF8	SLC29A3	BLM	WDR11	WT1	WWOX	DAZ1	HS6ST1	FGFR1	STRC	GNRH1	DDX3Y	MRAP	DAZ4	FANCL	RAD51C	FANCE	DUSP6	KISS1R	C14orf39	GNRHR	PROK2	BMP2	DMRT3	PALB2	CLDN2	UBE2T	XRCC2	MAD2L2	CATSPER2	BCL10	NNT	FANCA	PNLDC1	SYCE1	SCP2	FANCG	OCRL	SPINK2	STAG3	BPY2	ANOS1	TEX14	PRY	CDY1	TDRD9	KISS1	TAC3	KLHL10	ADGRG2	NSMF	MCM8	DHX37	TERB2	RFWD3	FGFR3	USP9Y	PROKR2	BRCA2	CEP19	MC2R	RPS4Y2	STK11	FANCB	SEMA3A	CDY2A	BRCA1	FANCI	PRY2
HP_CRYPTORCHIDISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRYPTORCHIDISM	RERE	FKTN	NTNG2	AR	KAT6A	LHX4	ZEB2	TBCE	EED	NALCN	B3GALNT2	GATA4	CDKN1C	RTTN	NDN	HYLS1	RRAS	TXNRD2	STT3A	RAC3	GPC3	CKAP2L	BBS4	MYH11	RIT1	OTX2	FANCC	SNRPN	CEP120	PEX3	CDH2	SOS1	MED27	EIF4H	FAM149B1	ERCC3	FANCF	ERCC4	FANCD2	RBM10	ODC1	FZD2	MYLPF	IRF6	B9D1	PRMT7	SRCAP	TWIST1	HSD3B2	MYF6	BBS5	CHRNG	RAD51C	EBF3	RAPSN	RPL10	PACS1	EVC2	CEP290	WT1	CEP19	ESCO2	FGFR1	STT3B	EMC10	HESX1	TOGARAM1	ARNT2	CILK1	FRAS1	SMC3	SEMA3E	PTPN23	GNRHR	DUSP6	EHMT1	BBS7	PNPLA6	MBTPS2	TRIP12	CYP17A1	GMNN	NAA10	SOX2	SMARCB1	MEG3	GLI3	AEBP1	RARB	CPLX1	FREM2	COLEC10	POU3F3	POLR1D	MAD2L2	MED13L	FANCA	HS6ST1	SKI	CLCN3	PEX6	WNT7A	CDON	KDM6A	DYNC2LI1	FBXW11	WDFY3	DDX6	SMOC1	DYNC2I1	TCF20	NIPBL	CD96	PEX12	TBX1	NSMF	MAGEL2	TMEM94	PDE4D	SCYL2	TARS1	SMS	ARID1B	BCORL1	RLIM	FGF8	METTL27	RNU4ATAC	NPAP1	DHCR7	SOX10	CREBBP	BCOR	RAB3GAP2	PPP1R12A	PIGN	FLT4	NDNF	TRIP4	DYRK1A	STS	MYT1L	FTO	PEX16	ESS2	FIG4	OCA2	GLI2	DHDDS	PBX1	ADAT3	DNM2	LONP1	KAT6B	RAD21	CHRM3	TRIM32	ZFPM2	BDNF	DCC	NR0B1	ELN	RAB3GAP1	C2CD3	DHODH	KRAS	LIG4	SRD5A2	OFD1	ATAD3A	KMT2E	MEGF8	RIPPLY2	TACR3	PEX26	FKBP6	AMHR2	HSD17B3	BRD4	MECP2	HPDL	SMARCD1	PEX5	HIBCH	OTUD5	STAC3	MKKS	DGCR2	ERCC6	EMG1	POLA1	SPRY4	MYLK	WWOX	GATA5	BUD23	ANAPC1	LMBR1	ATP6V1A	WDR37	FANCE	DNAJC30	TCF7L2	PHIP	PUS7	HDAC8	FLI1	SIAH1	CYP11A1	PEX14	GDF1	IGBP1	SYNCRIP	VPS37D	PHF8	FXR1	CRPPA	EP300	FDFT1	AGO2	PPP1CB	DAZ3	PTDSS1	TMEM107	TCF4	MASP1	PHF6	NNT	ERCC8	TP63	SLC26A2	TMEM67	SALL1	ARX	SNORD115-1	POMT2	MKS1	KISS1	TUBB	TSPYL1	HYMAI	DVL3	SPTBN1	KDM3B	NF1	CYB5A	SETD5	PROK2	MAPRE2	ORC6	CLCN4	XRCC2	HNRNPK	KAT8	NUP88	KCNQ1OT1	SETD1A	ACTB	CDK8	BRCA1	KMT5B	STAG1	MYOD1	OCRL	PTPN11	KDM6B	ORC1	TSPY1	PIGG	FKRP	PROKR2	ORC4	FLNB	RIPK4	FGF17	MTOR	XRCC4	CPE	KDM4B	BRAF	EBP	CTCF	RAF1	CTBP1	TCTN2	FGFR2	TFAP2A	PSMD12	LAS1L	MTM1	PRKAR1A	TBX22	ZMIZ1	FGD1	ALG12	PRKCZ	AKR1C2	SLC16A2	TBX3	CSPP1	CCDC32	TMEM237	DLX4	PTPRF	LZTR1	MESP2	RIN2	PHACTR1	FANCB	TNRC6B	WDR11	MTMR14	LARGE1	CUL4B	FGFR3	UFD1	LSS	MAMLD1	DPAGT1	CCBE1	BRWD3	RYR1	DYNC2I2	TMEM70	VANGL1	XPA	DIS3L2	HIRA	PALB2	MYRF	KCNAB2	CBL	ATP6V1E1	COG1	FANCG	FGF10	PIGS	DSE	PPP1R15B	ACTL6A	UBR7	RPGRIP1L	CPLANE1	PDPN	MAP3K7	SRY	GSC	NSUN2	RAB23	COL3A1	UBR1	MCM5	ACTG2	NRAS	SOS2	MUSK	SEC24C	GNRH1	MAPK1	ERCC2	SUZ12	EXT2	CDC45	XPC	TMEM231	HS2ST1	ANKRD17	MYH3	RTL1	B9D2	APC2	PEX1	HSPG2	SLC35D1	PAX6	AXL	TMEM216	G6PC3	PEX11B	SATB1	RSPO2	DDB2	SPEN	MAP2K1	USP7	ANKRD11	MAP3K1	GMPPB	NR5A1	GPC6	LZTFL1	SLX4	RECQL4	MAP2K2	DNAJC21	LRIG2	COLEC11	HBA2	KIF7	BAZ1B	FMR1	TCTN3	POMGNT1	CDCA7	SLC19A2	LHX1	NOTCH2	SCAPER	RRAS2	EIF2S3	MRAP	BBS10	UBE2A	TXNDC15	SIN3A	ATP6V0A2	FEZF1	SVBP	DMRT3	PDE6D	SEC23A	PLVAP	HERC2	UBE2T	BBIP1	STRA6	PEX2	BBS2	CHST14	WDPCP	ASXL3	ATN1	WASF1	RORA	ANOS1	TTC8	KCNQ1	GPC4	ZMYM2	GJA5	MED12	NSD1	RFWD3	ANKLE2	B3GLCT	GRIA3	PYCR1	DGCR8	MC2R	TOE1	RREB1	CLIP2	PIEZO2	GTF2IRD1	SEMA3A	OGT	OTUD6B	DVL1	KLHL15	CWC27	SMAD4	COMT	CITED2	BIN1	ALX4	CDC6	TRMT1	POLR3K	RAD51	KANSL1	NKX2-5	GTF2I	NKX2-6	EZH2	NCF1	ROR2	DOCK3	DAG1	KDM1A	YY1	ALDH18A1	NELFA	POLR1C	LMOD1	SATB2	SDCCAG8	MPLKIP	IFT27	IGF2	LETM1	DNAJC19	SMARCA4	CHD7	IFT74	GTF2E2	ACTL6B	GALT	JAM3	MADD	FANCL	DAZ2	DPYSL5	GLE1	PLAG1	MID1	ZSWIM6	PHGDH	CHD4	SLC25A24	PACS2	KDM5C	TBCK	NEDD4L	SGPL1	MAPK8IP3	MRAS	KCNMA1	BCL7B	NDP	ARID1A	COL4A1	ABL1	MKRN3	BPTF	DDX3Y	TASP1	POMGNT2	TOPORS	SOX11	POLD1	INSL3	UQCC2	POR	PTCH2	FLRT3	ATRX	AUTS2	PRDM16	RAB18	NXN	FBLN1	DLK1	POMT1	LMNB2	NSD2	BRF1	FAT4	TBL1XR1	FANCI	SMC1A	HBA1	SOX9	VAMP7	CCDC174	IFT172	TRRAP	SMARCA2	SMCHD1	ASH1L	SLC12A2	AFF4	RFC2	INPPL1	RBMY1A1	BUB1B	BICRA	SPRED2	KIAA0753	DOK7	FLNA	IRX5	GRIA4	HMGA2	BMP4	ERCC5	ATR	VPS13B	HNF1B	PLAGL1	TGDS	CCDC141	TBC1D20	NONO	ZBTB20	POMK	TCTN1	TCOF1	KISS1R	ADARB1	MRPS28	DLL3	EVC	DNMT3A	CDT1	AKR1C4	WNT5A	GRIA2	COG5	CFAP418	RNF2	FUZ	B4GALT7	NTNG1	TAC3	CC2D2A	AMH	CNOT3	BRCA2	DYNC2H1	GRIP1	GP1BB	TINF2	SNORD116-1	AP1S2	WDR35	MBD5	NOTCH3	KAT5	MLXIPL	VPS35L	ABCD4	ARID2	MCTP2	MED13	SPECC1L	DGCR6	LIMK1	STAR	H19	NFIB	RXYLT1	VAC14	BBS9	IER3IP1	KMT2D	SIX6	CEP152	UBE4B	LMX1B	ARVCF	KDR	ALKBH8	GLI1	HOXD13	DAZ1	PAX7	CDC42	KDM5B	HUWE1	DAZ4	TAF6	ACTA2	HPSE2	ZNF699	TANC2	ERCC1	PTCH1	SOX4	JAG1	DKC1	BCAS3	SETD2	SMARCC2	SHOC2	SAMD9	PALS1	FBN1	RAC1	PEX19	LFNG	MYMK	GPR161	MMP23B	POLR3A	SOX3	XYLT2	FARS2	IL17RD	GTF2H5	STXBP1	SMARCE1	GNB2	DACT1	RPGRIP1	PORCN	TBL2	SRA1	PWAR1	WNT3	ROBO1	RASA2	MAF	FANCM	ADNP	FGFRL1	THOC2	GK	BBS12	ANK1	TPM2	POLE	TMEM270	BRIP1	BBS1	PEX10	PEX13	DPF2	HTT	PIK3C2A	RNF135	SIM1	STX1A	CCDC22	ALG8	OPHN1	EFNB1	RNF113A	CLP1	CASZ1	POLR1B	SLC18A3	LMBRD2	MINPP1	JMJD1C	GTF2IRD2	SYNE1	ARL6	SUFU	BLM	UBA1	GATA1	GFM2	NKAP	HRAS	LUZP1	HES7	PWRN1	B4GAT1	CDH11	DHX37	GATA6	GABRD	IFT80	USP9Y	CYP19A1	NPHP1	EIF5A	TRAPPC4	ATPAF2	NFIX	JARID2
HP_TESTICULAR_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TESTICULAR_ATROPHY	AR	FGD1	POLG	DMPK	HFE	BMP2	NHP2	WFS1	SMS	FSHB	ANOS1	TP53	TEX11	HPRT1
HP_EPIDIDYMITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIDIDYMITIS	IGKC	IGHG2	PSMB8	BTK	UNG
HP_AMBIGUOUS_GENITALIA_MALE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMBIGUOUS_GENITALIA_MALE	MKS1	TSPYL1	CYP11A1	CYP17A1	WT1	SRY	SC5D	CYB5A	TBX15	SRD5A2	HSD3B2	DHCR24
HP_HYDROCELE_TESTIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYDROCELE_TESTIS	FLT4	ZMYM2	EZH2	APC2	MOGS	VEGFC	PIGN	SOX18	ANGPT2	SLC25A10	PTEN	PIK3CA	SETD2	AKT1	EP300	SETD1A	ZEB2	CREBBP	GJC2	ADAMTS3	EDEM3	PEX11B	MECOM	PIEZO1	NSD1	ATAD3A
HP_ABNORMAL_TESTIS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TESTIS_MORPHOLOGY	RERE	IL12A-AS1	PROM1	FKTN	NTNG2	AR	IL12A	MECP2	KAT6A	LHX4	ZEB2	TBCE	EED	NALCN	B3GALNT2	GATA4	CDKN1C	RTTN	CCDC28B	NDN	HYLS1	RRAS	TXNRD2	STT3A	RAC3	GPC3	CKAP2L	AGA	BBS4	MYH11	RIT1	OTX2	FANCC	SNRPN	CEP120	PEX3	HSPG2	PDE8B	DCAF17	CDH2	SOS1	MED27	EIF4H	TP53	FAM149B1	ERCC3	FANCF	ERCC4	FANCD2	RBM10	ODC1	PHGDH	ERAP1	FZD2	MYLPF	IRF6	B9D1	PRMT7	SRCAP	TWIST1	HSD3B2	MYF6	BBS5	CHRNG	RAD51C	EBF3	RAPSN	CTC1	RPL10	BRCC3	PACS1	EVC2	FAM111A	CEP290	WT1	CEP19	ESCO2	LRAT	FGFR1	STT3B	EMC10	HESX1	TOGARAM1	ARNT2	SLC7A14	CILK1	PCARE	STAT4	FRAS1	KDSR	SMC3	SEMA3E	LHB	PTPN23	GNRHR	DUSP6	EHMT1	BBS7	PNPLA6	MBTPS2	TRIP12	CYP17A1	SOX18	GMNN	HGSNAT	NAA10	SOX2	SMARCB1	MEG3	GLI3	AEBP1	RARB	CPLX1	FREM2	COLEC10	POU3F3	POLR1D	MAD2L2	MED13L	FANCA	HS6ST1	SKI	CLCN3	PEX6	WNT7A	CDON	KDM6A	DYNC2LI1	FBXW11	WDFY3	DDX6	ALMS1	C14orf39	SMOC1	RTEL1	DYNC2I1	TCF20	NIPBL	CD96	PRKACA	PEX12	TBX1	NSMF	MAGEL2	TMEM94	PDE4D	SCYL2	TARS1	SMS	ARID1B	CRX	BCORL1	RLIM	ZDHHC9	FGF8	METTL27	MDM2	RNU4ATAC	NPAP1	DHCR7	SOX10	CREBBP	ARL6	BCOR	RAB3GAP2	PPP1R12A	PIGN	FLT4	NDNF	TRIP4	DYRK1A	STS	MYT1L	FTO	PEX16	ESS2	FIG4	OCA2	GUCA1B	ZPR1	GLI2	DHDDS	PBX1	CERKL	ANGPT2	ADAT3	RP1L1	DNM2	LONP1	KAT6B	RAD21	CHRM3	TRIM32	ZFPM2	BDNF	DCC	NR0B1	GNAS	ELN	RAB3GAP1	C2CD3	DHODH	FSHB	KRAS	LIG4	SRD5A2	CDC73	OFD1	ATAD3A	KMT2E	TNFRSF1A	MEGF8	RIPPLY2	NR5A1	TACR3	PEX26	FKBP6	AMHR2	NANOS1	HSD17B3	BRD4	RAB18	HPDL	AGBL5	SMARCD1	PEX5	DHH	HIBCH	OTUD5	STAC3	MKKS	PIK3CA	DGCR2	ERCC6	EMG1	POLA1	SPRY4	MYLK	WWOX	GATA5	BUD23	TERC	ANAPC1	LMBR1	ATP6V1A	WFS1	WDR37	GBA2	PMM2	FANCE	PRCD	DNAJC30	TCF7L2	PHIP	PUS7	HDAC8	FLI1	SIAH1	CYP11A1	PEX14	GDF1	IGBP1	SYNCRIP	PTEN	VPS37D	PHF8	FXR1	CRPPA	EP300	C4A	FDFT1	AGO2	ARL2BP	PPP1CB	DAZ3	PTDSS1	TMEM107	TCF4	MASP1	PHF6	NNT	ERCC8	TP63	SLC26A2	TMEM67	SALL1	ARX	SNORD115-1	SLC29A3	POMT2	B4GAT1	MKS1	KISS1	TUBB	TSPYL1	HYMAI	VEGFC	DVL3	SPTBN1	KDM3B	NF1	CYB5A	SETD5	PROK2	MAPRE2	ORC6	CLCN4	XRCC2	NDUFB11	HNRNPK	KAT8	NUP88	KCNQ1OT1	SEMA4A	CDKN1B	SETD1A	ACTB	LEP	CDK8	BRCA1	KMT5B	PRPF31	STAG1	MYOD1	OCRL	PTPN11	KDM6B	ORC1	TSPY1	PIGG	FKRP	PROKR2	ORC4	FLNB	PRPF3	RIPK4	FGF17	MTOR	XRCC4	CPE	KDM4B	TSHB	GDF6	BRAF	IFT140	EBP	CTCF	RAF1	CTBP1	TCTN2	RP1	FGFR2	TFAP2A	PSMD12	LAS1L	MTM1	PRKAR1A	TBX22	ZMIZ1	FMR1	FGD1	ALG12	DICER1	PRKCZ	AKR1C2	SLC16A2	TBX3	CSPP1	CCDC32	TMEM237	DLX4	PTPRF	LZTR1	MESP2	RIN2	MAP3K1	PHACTR1	FANCB	TNRC6B	WDR11	MTMR14	LARGE1	CUL4B	FGFR3	UFD1	EDEM3	LSS	MAMLD1	DPAGT1	CCBE1	BRWD3	UBAC2	RYR1	DYNC2I2	SRY	TMEM70	IFT88	FAM161A	VANGL1	XPA	DIS3L2	CBX2	HIRA	PALB2	MYRF	KCNAB2	PDE6A	NPM1	CBL	KLHL7	DHX38	ATP6V1E1	GJB3	TEX15	COG1	FANCG	FGF10	FBN1	PIGS	DSE	PPP1R15B	ACTL6A	ROM1	UBR7	RPGRIP1L	CUL7	RDH12	CPLANE1	PDPN	MAP3K7	PRPF6	CCR1	GSC	NSUN2	RAB23	COL3A1	UBR1	MCM5	ACTG2	NRAS	SOS2	MUSK	SEC24C	GNRH1	MAPK1	ERCC2	SUZ12	NHP2	EXT2	CDC45	XPC	SNRNP200	TMEM231	HS2ST1	ANKRD17	MYH3	RTL1	B9D2	APC2	PEX1	SLC35D1	PAX6	AXL	TMEM216	PROP1	G6PC3	PEX11B	KEAP1	SATB1	RSPO2	DDB2	SPEN	MAP2K1	USP7	ANKRD11	CYP11B1	GMPPB	GPC6	LZTFL1	RBP3	MEIOB	SLX4	RECQL4	PRPH2	SAG	MAP2K2	DNAJC21	LRIG2	SATB2	MEFV	COLEC11	HBA2	KIF7	POU1F1	BAZ1B	ATM	SOHLH1	RHO	TCTN3	POMGNT1	CDCA7	SLC19A2	LHX1	NOTCH2	SCAPER	BEST1	RRAS2	EIF2S3	MERTK	MRAP	BBS10	UBE2A	TXNDC15	SYCP3	SIN3A	ATP6V0A2	FEZF1	PDE11A	SVBP	DMRT3	ZNF513	PDE6D	FANCM	SEC23A	NOP10	PLVAP	HERC2	UBE2T	RP9	BBIP1	FSCN2	TTC8	STRA6	PEX2	BBS2	CHST14	WDPCP	ASXL3	ATN1	WASF1	RORA	ANOS1	SOX9	KCNQ1	CLRN1	GPC4	ZMYM2	GJA5	MED12	TULP1	NSD1	RFWD3	ANKLE2	TINF2	B3GLCT	GRIA3	PYCR1	CRB1	DGCR8	MC2R	TOE1	RREB1	CLIP2	DHX37	PIEZO2	ADAMTS3	FAS	GTF2IRD1	PNLDC1	SEMA3A	OGT	OTUD6B	DVL1	KLHL15	CWC27	SMAD4	DKC1	COMT	CITED2	BIN1	ALX4	CDC6	CLIC2	TRMT1	POLR3K	RAD51	KANSL1	LEPR	KIZ	NKX2-5	GTF2I	NEK2	TBCD	SOX3	NKX2-6	EZH2	NCF1	ROR2	DOCK3	DAG1	KDM1A	YY1	ALDH18A1	NELFA	POLR1C	HCCS	LMOD1	SDCCAG8	HLA-B	IMPG1	MPLKIP	IFT27	IGF2	LETM1	DNAJC19	SMARCA4	HPRT1	CHD7	IFT74	GTF2E2	ACTL6B	GALT	JAM3	MADD	FANCL	DAZ2	DPYSL5	REEP6	GLE1	PLAG1	MID1	ZSWIM6	CHD4	SLC25A24	PACS2	KDM5C	TBCK	NEDD4L	EWSR1	SGPL1	MAPK8IP3	MRAS	KCNMA1	ABCA4	BCL7B	NDP	ARID1A	COL4A1	ABL1	MKRN3	BPTF	DDX3Y	TDRD9	SPATA7	TASP1	POMGNT2	TOPORS	SOX11	POLD1	INSL3	UQCC2	LHCGR	POR	PTCH2	FLRT3	ATRX	AUTS2	PRDM16	NXN	FBLN1	DLK1	TEX11	POMT1	LMNB2	NSD2	BRF1	FAT4	TBL1XR1	AKT1	FANCI	SMC1A	HBA1	CNGB1	DMPK	VAMP7	CCDC174	KCNJ6	IFT172	ZNF408	CA4	TRRAP	SMARCA2	SMCHD1	USB1	TLR4	ASH1L	SLC12A2	AFF4	RFC2	PDE6G	PIEZO1	INPPL1	RBMY1A1	BUB1B	BICRA	SPRED2	KIAA0753	DOK7	FLNA	IRX5	GRIA4	HMGA2	BMP4	IMPG2	RGR	ERCC5	ATR	CDHR1	HFE	CHEK2	VPS13B	HNF1B	PLAGL1	TGDS	CCDC141	DMXL2	TBC1D20	NONO	ZBTB20	POMK	EYS	TCTN1	CTDP1	PRPF8	TCOF1	KISS1R	ZMYND15	ADARB1	MRPS28	DLL3	EVC	SLC39A4	POLG	DNMT3A	BMP2	ARHGEF18	IFNGR1	CDT1	RBMX	AKR1C4	WNT5A	GRIA2	TUB	COG5	PDE6B	CFAP418	RNF2	TEX14	FUZ	B4GALT7	NTNG1	TAC3	KLHL10	COX7B	CC2D2A	AMH	CNOT3	TERT	IL23R	BRCA2	DYNC2H1	GRIP1	GP1BB	SYCE1	SNORD116-1	AP1S2	PQBP1	WDR35	MBD5	NOTCH3	KAT5	MOGS	MLXIPL	VPS35L	ABCD4	USH2A	ARID2	MCTP2	DMRT1	MED13	GJC2	NR2E3	RP2	SPECC1L	DGCR6	LIMK1	STAR	H19	NFIB	RXYLT1	IMPDH1	VAC14	BBS9	IER3IP1	KMT2D	SIX6	CEP152	UBE4B	LMX1B	WRN	ARVCF	KDR	ALKBH8	GLI1	AHR	FOXA2	HOXD13	DAZ1	PAX7	CDC42	KDM5B	HUWE1	DAZ4	TAF6	ACTA2	BBS1	HPSE2	ZNF699	TANC2	ERCC1	IDH3B	PTCH1	SOX4	JAG1	BCAS3	SETD2	SMARCC2	SHOC2	SAMD9	PALS1	RAC1	PEX19	LFNG	MYMK	GPR161	MMP23B	POLR3A	RPE65	XYLT2	FARS2	IL17RD	MCM8	STK11	GTF2H5	SLC34A2	STXBP1	SMARCE1	GNB2	DACT1	RPGRIP1	NRL	IDH3A	PORCN	UPF3B	TBL2	SRA1	RSPO1	PWAR1	WNT3	IL1RAPL1	PARN	ROBO1	RASA2	MAF	ADNP	FGFRL1	THOC2	GK	BBS12	ANK1	TPM2	POLE	TMEM270	BRIP1	IL10	PEX10	PEX13	DPF2	HTT	PIK3C2A	RNF135	SIM1	STX1A	SLC25A10	CCDC22	MAK	KIAA1549	ALG8	OPHN1	EFNB1	RPGR	ARL3	RNF113A	CLP1	CASZ1	POLR1B	CNGA1	SLC18A3	MECOM	LMBRD2	MINPP1	JMJD1C	GJA1	GTF2IRD2	SYNE1	SUFU	CFTR	BLM	UBA1	GATA1	GFM2	GJB4	NKAP	HRAS	LUZP1	HES7	LMNA	PWRN1	CDKN2A	KLRC4	CDH11	GATA6	GABRD	WRAP53	PRPF4	IFT80	USP9Y	CYP19A1	TAF4B	NPHP1	EIF5A	RLBP1	TRAPPC4	ATPAF2	NFIX	JARID2	AHI1
HP_ABNORMAL_PENIS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PENIS_MORPHOLOGY	RERE	PROM1	INPP5E	AR	LHX4	ZEB2	TBCE	LZTFL1	B3GALNT2	GATA4	CDKN1C	RTTN	CCDC28B	NDN	SMG8	STT3A	GPC3	COX7B	CDC42	OTX2	FANCC	PEX3	EXT2	PIEZO2	DCAF17	CYP21A2	CDH2	EIF4H	FANCF	CTU2	ERCC4	FANCD2	MAMLD1	FZD2	DYNC2H1	NODAL	FGFR1	HSD3B2	BBS5	CHRNG	EBF3	FGF10	CTC1	RPL10	EVC2	CEP290	WT1	CEP19	ESCO2	LRAT	STT3B	HESX1	TOGARAM1	PHF21A	SLC7A14	CILK1	PCARE	FRAS1	POGLUT1	SC5D	IFIH1	RNU7-1	SMC3	SEMA3E	LHB	GNRHR	DUSP6	RAC1	EHMT1	BBS7	PNPLA6	SDHD	MED25	CYP17A1	HGSNAT	SOX2	SMARCB1	GLI3	CENPT	CPLX1	FREM2	COLEC10	SDHC	POLR1D	MAD2L2	FANCA	HS6ST1	PTCH1	PEX6	RPL27	FANCB	WNT7A	SPTBN1	KARS1	CDON	KDM6A	DYNC2LI1	PSPH	DDX6	ALMS1	RPL35A	RTEL1	DYNC2I1	RPS26	WNT4	NIPBL	FLNA	PEX12	NSMF	KCNA1	TMEM94	PDE4D	TONSL	SMS	ARID1B	RPS15A	CRX	CEP41	CSPP1	TMEM63A	FGF8	METTL27	RNU4ATAC	KATNIP	NPAP1	AKT1	DHCR7	SOX10	CREBBP	ARL6	BCOR	PPP1R12A	PIGN	NDNF	DYRK1A	DISP1	PEX16	USF3	FIG4	GUCA1B	ZPR1	GLI2	DHDDS	PBX1	ARNT2	CERKL	RPL15	ADAT3	RP1L1	RSPO2	RAD21	TRIM32	HCCS	INSR	ZFPM2	BDNF	DCC	ADAR	ELN	RAB3GAP1	SNRPN	TBX1	FERMT1	C2CD3	GMNN	DHODH	KCNH1	FAM111A	LIG4	SRD5A2	ZMPSTE24	RBBP8	HOXA13	RIPPLY2	TACR3	PEX26	FKBP6	BRD4	RNF113A	MECP2	RAB18	AGBL5	SMARCD1	OTUD5	MKKS	ERCC6	SPRY4	WWOX	MAGEL2	KLLN	BUD23	TERC	ATP6V1A	FANCE	PRCD	DNAJC30	ARX	PNKP	SIAH1	CYP11A1	PEX14	SCN1B	VPS37D	CRPPA	EP300	TAPT1	FDFT1	ARL2BP	RPS19	PTDSS1	TCF4	PHF6	CLMP	CCDC8	TP63	SALL1	SNORD115-1	SLC29A3	POMT2	B4GAT1	KISS1	TUBB	TSPYL1	KLHL40	DVL3	PIK3CA	KDM3B	CYB5A	PROK2	SHH	ATP6AP2	MAPRE2	ORC6	XRCC2	NDUFB11	THOC6	SEMA4A	ACTB	LEP	WDR35	RNASEH2A	KIAA0753	AFF4	BRCA1	PRPF31	ORC1	PIGG	FKRP	GAS1	PROKR2	HDAC8	ORC4	PRPF3	RIPK4	FGF17	MTOR	XRCC4	CPE	AIP	BRAF	IFT140	CTCF	CTBP1	ISL1	MEGF8	RP1	UBR1	TFAP2A	PSMD12	MTM1	TBX22	ZMIZ1	ALG12	RPS28	PRKCZ	DCHS1	TBX3	CDKL5	RPL35	PTPRF	MESP2	RPL5	SCUBE3	WDR11	LARGE1	CUL4B	UFD1	LSS	PSENEN	GHR	RYR1	PRRX1	DACT1	TMEM70	IFT88	FAM161A	USP9X	DIS3L2	FKTN	NR5A1	HIRA	LMNA	PALB2	MYRF	KCNAB2	ERCC8	PDE6A	NPM1	PIGQ	KLHL7	DHX38	HYLS1	WASHC5	COG1	MNX1	FANCG	MKS1	ROM1	UBR7	CUL7	NKX2-1	RDH12	SETD5	HERC1	SETBP1	PDPN	PRPF6	SRY	FGFR3	NSUN2	SEC24C	GNRH1	ALX4	PAFAH1B1	NHP2	FOXC1	CDC45	SNRNP200	APC2	PEX1	HSPG2	PAX6	AXL	PEX11B	SPEN	KIAA0586	USP7	MAP3K1	FOXF1	CYP11B1	RAB3GAP2	TDGF1	GMPPB	RBP3	PEX5	SLX4	PRPH2	SAG	KIAA1109	HBA2	BAZ1B	RHO	POMGNT1	ACTA1	CDCA7	SMO	NOTCH2	SCAPER	BEST1	EIF2S3	DCX	ERMARD	MERTK	BBS10	UBE2A	SIN3A	GPR101	ROR2	FEZF1	CCDC22	DMRT3	ZNF513	NOP10	HERC2	UBE2T	RP9	BBIP1	FSCN2	TTC8	PTEN	PEX2	BBS2	MED12L	WDPCP	ANOS1	CLRN1	GPC4	NDUFA8	ZMYM2	RPL31	TTC37	MED12	TULP1	NSD1	RFWD3	TINF2	RPS29	EPG5	B3GLCT	GRIA3	CRB1	NEK1	TSR2	TOE1	RREB1	CLIP2	DHX37	KRT5	GTF2IRD1	SEMA3A	OGT	DVL1	KLHL15	DKC1	COMT	CDC6	GATA1	SRCAP	RAD51	TWIST2	KANSL1	KIZ	GTF2I	NEK2	SCN2A	EZH2	NCF1	DAG1	KDM1A	SUCLG1	NELFA	POLR1C	RPL18	SATB2	SDCCAG8	INTU	IMPG1	PITX2	IFT27	IGF2	LETM1	DNAJC19	SMARCA4	CHD7	IFT74	MADD	COLEC11	FANCL	RNASEH2C	GNAO1	REEP6	PLAG1	MID1	CHD4	SLC25A24	PTPN11	EED	EFNB1	SGPL1	ABCA4	BCL7B	MYH3	ARID1A	COL4A1	FGFR2	ABL1	MKRN3	RPS10	SIX3	SPATA7	POMGNT2	SOX11	LHCGR	POR	HNF1B	FLRT3	ATRX	PRDM16	OBSL1	NXN	POMT1	LMNB2	NSD2	FAT4	TBL1XR1	ARL6IP6	FANCI	STAR	SMC1A	HBA1	CNGB1	SOX9	VAMP7	IFT172	NR0B1	ZNF408	CA4	TRRAP	KLHL41	SMCHD1	USB1	RFC2	PDE6G	BUB1B	ZIC2	BICRA	MYMK	HMGA2	BMP4	IMPG2	RGR	ATR	CDHR1	TGIF1	CCDC141	SIK1	FOXH1	TBC1D20	OFD1	RAD51C	POMK	EYS	GRM7	PRPF8	TCOF1	KISS1R	KIF7	DLL3	EVC	NEB	DMXL2	RPS24	ARHGEF18	CASK	ECE1	WNT5A	KAT6B	ADA2	TUB	COG5	SMARCA2	PDE6B	CFAP418	TAC3	RLIM	TERT	BRCA2	PRKDC	GRIP1	CDT1	GP1BB	SNORD116-1	YWHAE	PQBP1	GATAD2B	MBD5	KAT5	LMOD3	MLXIPL	USH2A	ARID2	NEUROD2	TRIM8	SMAD4	MCTP2	NR2E3	RP2	LIMK1	PRKAR1A	POFUT1	RPS17	RPS7	RXYLT1	IMPDH1	VAC14	BBS9	KMT2D	CHRNA3	SIX6	UBE4B	LMX1B	ARCN1	ARVCF	ALKBH8	SUZ12	GLI1	AHR	HOXD13	CDH11	KDM5B	HUWE1	RPS27	BBS1	ZNF699	MAB21L2	IDH3B	RNASEH2B	SOX4	SETD2	SMARCC2	SAMD9	RPS20	PEX19	LFNG	GPR161	MMP23B	POLR3A	SOX3	ATAD3A	RPE65	IL17RD	STXBP1	SMARCE1	SUFU	SPRED1	GNB2	RAF1	NAA10	NRL	IDH3A	TBL2	SRA1	RSPO1	PWAR1	PARN	TOPORS	ROBO1	SAMHD1	FANCM	SEC23B	FGFRL1	THOC2	BBS12	ANK1	SPECC1L	FBXL4	POLE	TMEM270	BRIP1	BBS4	PEX10	PEX13	DPF2	DYNC2I2	SSR4	KDM5C	SIM1	STX1A	NDUFS4	SLC25A10	MAK	KIAA1549	OPHN1	COL3A1	RPGR	ARL3	PUF60	SYNGAP1	RPL11	ERCC2	CASZ1	POLR1B	CNGA1	KRAS	RPL26	MINPP1	JMJD1C	GTF2IRD2	UBA1	MAP2K1	LUZP1	HES7	PWRN1	B9D2	PIGA	CARS1	GABRD	SKI	WRAP53	DPYSL5	PRPF4	IFT80	DLL1	NPHP1	SDHB	RLBP1	PIGP	PCNT	KIFBP	SLC25A22	ATPAF2	TREX1	AHI1
HP_MALE_PSEUDOHERMAPHRODITISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALE_PSEUDOHERMAPHRODITISM	CYP17A1	B9D2	CYP11A1	CBX2	CYB5A	CEP290	HHAT	SOX9	ATRX	AKR1C4	WT1	NR5A1	TMEM216	DHH	DMRT1	MNX1	TMEM107	TCTN2	TMEM67	RPGRIP1L	HCCS	HSD17B3	MKS1	COX7B	AKR1C2	HSD3B2	CC2D2A	AMH	B9D1	CSPP1	SRY	TMEM237	RPGRIP1	AR	TCTN3	NDUFB11	MAP3K1	DHX37	TXNDC15	TCTN1	NR0B1	TMEM231	AMHR2
HP_EPISPADIAS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISPADIAS	EVC	ORC1	COX7B	SRY	FZD2	ORC4	CDC6	DVL3	SMAD4	WNT5A	EVC2	NDUFB11	C2CD3	GMNN	GLI1	CDT1	PTDSS1	PIEZO2	KRAS	TP63	ISL1	DYNC2LI1	DVL1	CDC45	ORC6	HCCS
HP_LONG_PENIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_PENIS	INSR	LHCGR	KCNH1	ESCO2	CYP11B1	FGFR1	PTEN	AKT1	POLR3A	AIP	GPR101
HP_CHORDEE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHORDEE	ZMYM2	HOXA13	PTDSS1	FGFR1	SRY	PPP1R12A	CARS1	KDM1A	MAP3K1	HCCS	ZEB2	POR	COX7B	NDUFB11	ZNF699	DYRK1A
HP_HYPOGONADOTROPIC_HYPOGONADISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOGONADOTROPIC_HYPOGONADISM	MLXIPL	MT-ND6	PROKR2	POLR3K	NDN	FGF17	RRAS	SNRPN	CPE	AIP	RIT1	DHH	DMRT1	GTF2I	NCF1	RAF1	TACR3	LIMK1	SPRY4	FSHB	EIF4H	DNAL4	LIG3	BAP1	MT-TW	PROP1	MT-TH	SMARCE1	CTDP1	POLR3A	NF2	NDNF	SIX6	FEZF1	DCC	CHD7	SEMA3E	MT-CO1	TRAF7	MAP3K1	WDR11	FOXA2	SMO	PROK2	MT-ND1	FGFR1	RAD51	CCDC141	POLR3B	HESX1	AKT1	DUSP6	SRY	LHB	PNPLA6	GNRHR	PTCH1	NTN1	LHX4	CBX2	SOX2	LHX3	SEMA3A	CTNNB1	MRAS	BCL7B	MT-TF	HS6ST1	PCSK1	SMARCB1	SOS1	RAB3GAP1	MKRN3	OTX2	MT-CO3	SUFU	IL17RD	NSMF	MAGEL2	PTCH2	OCA2	MT-CO2	FLRT3	TAC3	ANOS1	NRAS	POU1F1	SOS2	MT-TL1	LAS1L	TYMP	TERT	FGF8	METTL27	GNRH1	TBL2	NPAP1	PDGFB	SOX10	SRA1	RAB3GAP2	PWAR1	PIK3CA	RASA2	AXL	ANK1	NR0B1	ELN	TMEM270	RFC2	KRAS	MT-TS2	KISS1	HJV	FKBP6	SPRED2	SIM1	CDH23	HSD17B3	STX1A	HFE	DCAF17	BAZ1B	RRM2B	DMXL2	RRAS2	BUD23	MT-ND5	PMM2	REV3L	DNAJC30	LZTR1	KISS1R	GPR101	RNU4ATAC	TFR2	HDAC8	GTF2IRD2	BMP2	GLI2	POLG	VPS37D	HERC2	WT1	NR5A1	BRAF	SOX3	PWRN1	TP63	SOX9	SNORD115-1	MEN1	PLXND1	DHX37	RBM28	RNF216	CLIP2	CBL	MT-ND4	SNORD116-1	SMCHD1	GTF2IRD1	GJB2	MT-TQ	PTPN11
HP_ABNORMALITY_OF_THE_SCROTUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_SCROTUM	PNPLA6	NTNG2	AR	SRY	ZMIZ1	ZEB2	ALX4	TSPYL1	TRMT1	NDN	SRCAP	AKT1	STT3A	MAMLD1	KDM4B	SOX9	SNRPN	PSMD12	MED13	DOCK3	SPECC1L	MEGF8	MED27	CLCN3	IGF2	POFUT1	POLR1C	MTM1	FGD1	MAB21L1	IER3IP1	IRF6	LMX1B	SEMA3E	ARCN1	ACTL6B	NECTIN1	TNRC6B	WT1	FGFR2	HOXD13	STT3B	EMC10	PTRH2	PSENEN	CILK1	DPYSL5	POGLUT1	CDKN1C	RYR1	TANC2	TBX4	PLAG1	MID1	SLC25A24	ORC1	PTPN23	TBX3	TWIST2	TRIP12	CYP17A1	DDX6	BCAS3	MYRF	EFNB1	UPB1	POR	FREM2	COLEC10	MADD	MAPK8IP3	POLR1D	SAMD9	KCNMA1	PALS1	MYH3	MNX1	WNT7A	SPTBN1	FBXW11	WDFY3	ACTL6A	MKRN3	BPTF	TCF20	MAGEL2	HSD3B2	MED12	OCA2	ALG12	STXBP1	ATRX	CHD7	DACT1	FLI1	BCORL1	RLIM	NPAP1	DHCR7	CREBBP	TMCO1	PWAR1	CCDC32	FAT4	MYT1L	HS2ST1	ANKRD17	CYB5A	KAT6B	VAMP7	ZFPM2	SRD5A2	NR0B1	SATB1	DYRK1A	TRRAP	GATA4	SLC12A2	MAP3K1	FARSB	SMARCA2	HTT	NR5A1	FRAS1	UBR7	KMT2E	BUB1B	ACTB	SIM1	GRIA4	MAPRE2	HMGA2	BMP4	RAB18	HPDL	KIAA1109	OPHN1	ERCC2	HNF1B	LHX1	POLR1B	WWOX	TBC1D20	LMBRD2	GRIP1	TCOF1	GLI3	TCF7L2	MINPP1	PUS7	SVBP	DMRT3	SYNCRIP	PTEN	HERC2	AGO2	SALL1	HOXA13	PWRN1	PHF6	RNF2	WASF1	SNORD115-1	RAB3GAP2	NTNG1	CHRNG	TUBB	EP300	CDH11	NEXMIF	SETBP1	DHX37	CNOT3	HUWE1	ORC6	FZD2	TOE1	KAT8	SETD1A	KIFBP	KRT5	SNORD116-1	TRAPPC4	JARID2
HP_SMALL_SCROTUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_SCROTUM	PNPLA6	NTNG2	SRCAP	SOX9	ZMIZ1	ALX4	KAT6B	TSPYL1	TRMT1	NDN	STT3A	SATB1	KDM4B	TRRAP	SNRPN	SLC12A2	PSMD12	MED13	DOCK3	SRD5A2	FARSB	MED27	SMARCA2	CLCN3	HTT	FRAS1	UBR7	KMT2E	POLR1C	OCA2	IER3IP1	SIM1	GRIA4	MAPRE2	BMP4	RAB18	IRF6	HPDL	KIAA1109	OPHN1	LMX1B	ARCN1	ERCC2	ACTL6B	NECTIN1	TNRC6B	POLR1B	MAGEL2	TBC1D20	MYT1L	STT3B	EMC10	LMBRD2	CILK1	DPYSL5	GRIP1	RYR1	TCOF1	GLI3	TCF7L2	TANC2	PUS7	SLC25A24	PTPN23	TRIP12	SVBP	DDX6	SYNCRIP	BCAS3	POR	HERC2	FREM2	MADD	MAPK8IP3	POLR1D	KCNMA1	NR5A1	PALS1	AGO2	MYH3	WNT7A	PWRN1	PHF6	FBXW11	WDFY3	RNF2	WASF1	ACTL6A	MKRN3	BPTF	SNORD115-1	RAB3GAP2	NTNG1	TCF20	CHRNG	TUBB	SPTBN1	MED12	ALG12	SETBP1	SRY	STXBP1	ATRX	CNOT3	HUWE1	BCORL1	RLIM	ORC6	KAT8	NPAP1	SETD1A	DHCR7	SNORD116-1	TRAPPC4	PWAR1	CCDC32	JARID2	HS2ST1	ANKRD17
HP_BIFID_SCROTUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIFID_SCROTUM	BUB1B	AR	CYP17A1	SRY	CDH11	HSD3B2	SOX9	ZEB2	HMGA2	CYB5A	BMP4	IRF6	CHD7	MYRF	UPB1	SRD5A2	DACT1	POR	COLEC10	SPECC1L	MAMLD1	NR5A1	SEMA3E	FZD2	SALL1	HOXA13	FGFR2	MNX1	DHCR7	KIFBP	HOXD13	SPTBN1	FAT4	IGF2	CDKN1C	MTM1	PLAG1	MID1
HP_SHAWL_SCROTUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHAWL_SCROTUM	ORC1	TBX3	FGD1	HNF1B	LHX1	TWIST2	EP300	NEXMIF	CREBBP	PTRH2	SPECC1L	MEGF8	TMCO1	EFNB1	ATRX	PSMD12	DYRK1A	SAMD9	TBX4	MID1
HP_MACROORCHIDISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACROORCHIDISM	FMR1	UPF3B	ZDHHC9	ARX	MECP2	LHCGR	AGA	CLIC2	NF1	IL1RAPL1	PTEN	RBMX	AKT1	PRKAR1A	GNAS	CYP19A1	TSHB	MED12
HP_MICROPENIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROPENIS	PNPLA6	LMOD3	FKRP	INPP5E	AR	SRY	PROKR2	LZTFL1	MLXIPL	GATA4	CCDC28B	ROR2	NEUROD2	NDN	RIPK4	FGF17	XRCC4	CPE	STT3A	COX7B	MAMLD1	MCTP2	OTX2	FIG4	SOX9	SCN2A	EXT2	TACR3	DCAF17	SPRY4	MEGF8	CDH2	PSMD12	MTM1	SATB2	CTU2	VAC14	INTU	KMT2D	ALG12	FZD2	DYNC2H1	TP63	NDNF	SIX6	CDKL5	EBF3	FEZF1	LMX1B	CHD7	SEMA3E	ARCN1	SLC29A3	ALKBH8	WDR11	USP7	WT1	PROK2	EIF2S3	CDH11	FGFR1	CUL4B	STT3B	MADD	LSS	TOGARAM1	HUWE1	PHF21A	CCDC141	CILK1	CDC6	RNASEH2C	LARGE1	FRAS1	DVL3	BBS1	GNAO1	DUSP6	IFIH1	RYR1	RNU7-1	LHB	CHD4	SLC25A24	ORC1	GNRHR	TBX3	EHMT1	CYP17A1	PTPN11	RNASEH2B	NR5A1	SOX2	MYRF	POMT2	ERCC8	CENPT	POR	SGPL1	COLEC10	SEMA3A	ARL6	PIGQ	ZEB2	HS6ST1	TBCE	KIAA0586	FANCB	SPTBN1	KDM6A	TCF4	DDX6	ALMS1	MKRN3	UBR7	CDC45	ARX	ATAD3A	HERC1	SETBP1	IL17RD	NSMF	KCNA1	HSD3B2	STXBP1	HDAC8	FLRT3	ATRX	GNB2	FANCL	CEP41	ANOS1	UBR1	FGF8	POMT1	GNRH1	RNU4ATAC	KATNIP	LMNB2	ALX4	NPAP1	DHCR7	SOX10	SRA1	PPP1R12A	PWAR1	MAGEL2	FAT4	DYRK1A	TBL1XR1	ZPR1	SAMHD1	GLI2	DHDDS	PBX1	TRIM8	ADAT3	RSPO2	CYB5A	VAMP7	AXL	HCCS	ZFPM2	SRD5A2	IFT172	DCC	NR0B1	GLI3	CDKN1C	ADAR	KLHL41	POLE	SNRPN	C2CD3	DHODH	RAB3GAP2	MAP3K1	PHF6	FAM111A	HESX1	GMPPB	OFD1	BUB1B	KDM5C	SIM1	ELN	RNF113A	BMP4	RAB18	FANCD2	KIAA1109	TOE1	OTUD5	NDUFB11	OPHN1	ACTA1	SMO	ERCC6	ERCC2	WWOX	SIK1	DCX	TBC1D20	ATP6V1A	LIG4	UBE2A	GRM7	SIN3A	KISS1R	PIEZO2	KIF7	MINPP1	PNKP	NEB	DMXL2	DMRT3	CASK	SCN1B	UBA1	ECE1	HERC2	DVL1	KAT6B	TAPT1	HOXA13	PWRN1	COG5	B9D2	SNORD115-1	B4GAT1	KISS1	TAC3	KLHL40	PIGA	BBS5	DHX37	RLIM	THOC2	DPYSL5	GRIA3	ORC6	NEK1	THOC6	PIGP	PRKDC	ACTB	LEP	WNT5A	RNASEH2A	KIAA0753	SNORD116-1	SLC25A22	SMCHD1	TREX1	KLHL15
HP_ABNORMALITY_OF_FEMALE_EXTERNAL_GENITALIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FEMALE_EXTERNAL_GENITALIA	ORC1	AR	SRY	HDAC8	ORC4	CDC6	ROR2	NDN	ATIC	RIPK4	TWIST2	RAC3	ESCO2	COX7B	SOX9	SNRPN	PEX3	CTCF	SPECC1L	ISL1	TALDO1	HCCS	VAC14	INSR	PRKCZ	IRF6	HSD3B2	CXCR4	NR5A1	CHRNG	CEP152	UBE4B	FGFR2	SEMA3E	CHD7	PPARG	WT1	FRAS1	DVL3	ZFPM2	SMC3	CAVIN1	SLC25A24	TP63	FZD2	GMNN	KCNAB2	POR	FREM2	BSCL2	AGPAT2	MYH3	TBC1D20	PEX6	PEX19	FDXR	TNXB	MKRN3	MMP23B	ECEL1	CDC45	NIPBL	CD96	PEX12	PDPN	MAGEL2	OCA2	PRDM16	NSUN2	LMNA	RAB18	UBR1	ARID1B	NXN	MKS1	PORCN	NPAP1	PPP1R12A	RSPO1	PWAR1	DVL1	PEX16	SMC1A	FIG4	PDE4D	PEX1	CCNQ	HSPG2	DHCR7	GAD1	SPEN	KAT6B	RAD21	VAMP7	RERE	MAP3K1	NR0B1	PEX11B	RAB3GAP1	GATA4	CYP11B1	RAB3GAP2	PEX10	PEX13	LIG4	CAV1	PEX5	UBE3B	PEX26	ACTB	SIM1	BRD4	ATR	DHH	NDUFB11	PLAGL1	CASZ1	WWOX	CYP11A1	PMM2	DHCR24	TRAIP	PCNT	MINPP1	PEX14	ESR2	FOS	DMRT3	LIPE	POC1A	HERC2	WNT5A	PEX2	LUZP1	TBX15	PWRN1	SMARCA2	SNORD115-1	HYMAI	B3GLCT	SETBP1	DHX37	GABRD	SKI	CYP19A1	ORC6	TOE1	GRIP1	CDT1	NR3C1	PRKAR1A	SNORD116-1	SMCHD1
HP_ABNORMALITY_OF_THE_CLITORIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CLITORIS	ORC1	PEX1	CCNQ	AR	DHCR7	GAD1	ORC4	CDC6	KAT6B	VAMP7	ROR2	MAP3K1	NDN	ATIC	HCCS	INSR	ZFPM2	NR0B1	PEX11B	ESCO2	COX7B	RAB3GAP1	GATA4	SOX9	SNRPN	GMNN	PEX3	CYP11B1	RAB3GAP2	PEX10	ISL1	PEX13	NR5A1	CAV1	TALDO1	OCA2	PEX5	VAC14	UBE3B	PEX26	SIM1	DVL3	ATR	HSD3B2	NDUFB11	CEP152	FGFR2	PPARG	WT1	WWOX	MAGEL2	CYP11A1	FRAS1	TRAIP	MINPP1	CAVIN1	PEX14	FZD2	FOS	DMRT3	POR	POC1A	SRY	HERC2	BSCL2	WNT5A	DVL1	AGPAT2	PEX2	TBC1D20	PEX6	PEX19	FDXR	PWRN1	TP63	MKRN3	SNORD115-1	CDC45	CD96	PEX12	B3GLCT	DHX37	RAB18	UBR1	ARID1B	ORC6	PORCN	TOE1	CDT1	NPAP1	PPP1R12A	RSPO1	SNORD116-1	PWAR1	PEX16	FIG4
HP_ABNORMAL_LABIA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LABIA_MORPHOLOGY	ORC1	CCNQ	AR	POR	GAD1	HDAC8	ORC4	CDC6	RAD21	VAMP7	ROR2	NDN	ATIC	RIPK4	ZFPM2	NR0B1	FGFR2	NIPBL	RAB3GAP1	GATA4	INSR	SOX9	SNRPN	GMNN	CTCF	MAP3K1	RAB3GAP2	NR5A1	OCA2	VAC14	UBE3B	ACTB	SIM1	BRD4	RAB18	IRF6	DVL3	HSD3B2	CHRNG	SEMA3E	PLAGL1	CHD7	WT1	WWOX	ESCO2	MAGEL2	PMM2	SMC3	SLC25A24	TP63	ESR2	FZD2	DMRT3	LIPE	HERC2	BSCL2	WNT5A	DVL1	KAT6B	AGPAT2	MYH3	TBC1D20	PWRN1	SMARCA2	MKRN3	ECEL1	SNORD115-1	HYMAI	SETBP1	DHX37	LMNA	B3GLCT	ORC6	PORCN	CDT1	NPAP1	SNORD116-1	SMCHD1	PWAR1	SRY	CDC45	SMC1A	FIG4
HP_HYPOPLASTIC_LABIA_MAJORA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_LABIA_MAJORA	UBE3B	SLC25A24	ORC1	POR	TP63	ESR2	FZD2	BRD4	GAD1	HDAC8	SETBP1	GMNN	ORC4	CDC6	RAD21	IRF6	DVL3	ROR2	RIPK4	FGFR2	B3GLCT	WNT5A	DVL1	NIPBL	CTCF	CDT1	SMCHD1	CDC45	SMC1A	ECEL1	FIG4	ORC6	RAB3GAP2	SMC3	VAC14
HP_CLITORAL_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLITORAL_HYPOPLASIA	ORC1	FZD2	ORC4	CDC6	ROR2	NDN	SNRPN	POC1A	HERC2	WNT5A	DVL1	RAB3GAP1	GMNN	TBC1D20	PWRN1	RAB3GAP2	MKRN3	SNORD115-1	OCA2	MAGEL2	SIM1	DVL3	B3GLCT	RAB18	PORCN	CDT1	NPAP1	SNORD116-1	PWAR1	CDC45	ORC6
HP_AMBIGUOUS_GENITALIA_FEMALE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMBIGUOUS_GENITALIA_FEMALE	MKS1	WT1	HSD3B2	DHCR24	SRY	CYP19A1	CYP11B1	TBX15	TNXB
HP_AMBIGUOUS_GENITALIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMBIGUOUS_GENITALIA	CYP17A1	PBX1	B9D2	B9D1	GAS1	DYNC2I1	AR	SRY	SOX9	DHCR7	FGF8	CYB5A	PAX6	TSPYL1	GATA4	VAMP7	HCCS	RIPK4	TWIST2	ZFPM2	SRD5A2	BDNF	NR0B1	COX7B	TMEM216	SOX3	CEP120	TBC1D24	MAP3K1	CYP11B1	TCTN2	WT1	TDGF1	DYNC2I2	NR5A1	FRAS1	POR	CTU2	BUB1B	ZIC2	IGF2	AKR1C2	HSD17B3	NR2F2	DYNC2H1	IRF6	CSPP1	NODAL	TGIF1	TMEM237	HSD3B2	TOE1	NDUFB11	FGFR1	TCTN3	WWOX	HOXD13	FOXH1	CYP11A1	TXNDC15	CILK1	TCTN1	DHCR24	ZNF699	TRAIP	GLI3	MINPP1	CHD4	VANGL1	SC5D	DMRT3	CEP290	MYRF	ATRX	FREM2	AKR1C4	PTCH1	TMEM107	ARX	FDXR	TBX15	TNXB	CKAP2L	BUB1	TMEM67	SIX3	FUZ	RPGRIP1L	WNT4	MKS1	GLI2	CDON	TRIP13	IFT81	CC2D2A	DHX37	SUFU	SHH	RPGRIP1	CEP41	IFT80	DLL1	CYP19A1	NEK1	FZD2	BUB3	GRIP1	NR3C1	RSPO1	CEP57	DISP1	TMEM231	WDR35	ATP6V1B2
HP_HYPOPLASTIC_LABIA_MINORA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_LABIA_MINORA	ORC1	ACTB	MAGEL2	SIM1	NDN	FZD2	GAD1	OCA2	SETBP1	ORC4	CDC6	RAB18	DVL3	SNRPN	HERC2	WNT5A	RAB3GAP1	ORC6	GMNN	TBC1D20	CDT1	NPAP1	SNORD116-1	PWRN1	RAB3GAP2	PWAR1	DVL1	CDC45	MKRN3	SNORD115-1
HP_LABIAL_HYPERTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LABIAL_HYPERTROPHY	INSR	PLAGL1	LMNA	HYMAI	BSCL2	ESCO2	KAT6B	AGPAT2
HP_URETHRAL_ATRESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETHRAL_ATRESIA	TP63	B9D2	WNT3	GRIP1	TMEM107	CC2D2A	TCTN2	B9D1	CSPP1	CEP290	TXNDC15	TMEM237	RPGRIP1	FANCB	ZIC3	TCTN1	FREM2	TMEM67	FRAS1	TMEM216	TMEM231	RPGRIP1L	TCTN3	MKS1
HP_ABNORMALITY_OF_THE_URETER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_URETER	RERE	COMT	BNC2	RAD51	GATA6	KANSL1	CDKN1C	MNX1	MYH11	GATA3	GTF2I	FANCC	SCN2A	ACTB	CTLA4	NCF1	HSPG2	KCNQ1OT1	PIEZO2	YY1	SOS1	EIF4H	MED12	UNC45A	FANCF	LMOD1	ERCC4	CEP63	FANCD2	FBLN5	FIBP	B9D1	PRMT7	UMPS	EBF3	SALL4	MYCN	EVC2	STIL	NADSYN1	FANCL	LTBP1	ARNT2	DVL3	GNAO1	SMC3	MID1	CHD4	MBTPS2	HNRNPU	MAD2L2	SHANK3	ZEB2	FANCA	BCL7B	KMT2C	TNXB	MYOD1	HLA-DPA1	KDM6A	DYNC2LI1	COPB2	LAMB3	DDX6	FAM20C	EYA1	ITGB4	NIPBL	FLNA	KCNA1	POR	ATRX	WDR62	CHD7	JAG1	KIF14	ARID1B	KCTD1	MYLK	PIGN	HNF1B	METTL27	DHCR7	BRF1	BCOR	STAMBP	NPHP3	FANCB	EHMT1	FANCI	SMC1A	ATP7A	EPG5	GPC3	PBX1	EFEMP2	CCNQ	RAD21	CHRM3	GLI3	TRRAP	ELN	ASXL1	TBX1	CENPJ	AFF4	CIT	RECQL4	RFC2	NODAL	ZMPSTE24	MCPH1	PAX6	RIPPLY2	FKBP6	BRD4	CREBBP	OTUD5	RAI1	SIK1	BUD23	MKKS	WFS1	RAD51C	FANCE	DNAJC30	TCTN1	GRM7	DLL3	PNKP	DMXL2	FLII	PYCR2	PIGL	CASK	SPOP	SCN1B	TBX18	VPS37D	DEAF1	EP300	RARB	FGFR2	SASS6	SALL1	PRTN3	TMEM107	PIGT	TP63	TMEM67	FUZ	HLA-DPB1	MKS1	NFIA	B3GLCT	PIGO	CC2D2A	PSMD12	PEX6	SDHAF1	PIGQ	BRCA2	XRCC2	HNRNPK	SDHD	ANKLE2	TRPS1	GP1BB	BRCA1	KAT5	MLXIPL	STK11	HDAC8	NEUROD2	ASPM	TMEM216	SLC6A17	IGF2	LAMA3	TCTN2	SDHA	LIMK1	ISL1	LRIG2	ACTG1	HSPA9	ZMIZ1	GRHPR	PUF60	CEP135	KMT2D	CSPP1	CHRNA3	CDKL5	SLC26A1	TMEM237	AXIN1	KNL1	SEMA3E	MESP2	ARVCF	LMNA	NECTIN1	GLI1	CDK6	ACTG2	CDH11	FGFR3	UFD1	SH2B1	CCBE1	HPSE2	DDB1	NSD1	ITGA6	SLC35A2	VANGL1	RALGAPA1	HIRA	CEP290	METTL5	PALB2	SETD2	LAMC2	EDNRA	FANCG	FGF10	LFNG	HAAO	RPGRIP1L	CDC45	ARX	NKX2-1	EXT1	SETBP1	PLEC	EVC	TRAPPC14	DACT1	NAA10	RPGRIP1	GREB1L	PORCN	SEC24C	TBL2	PAX2	TMEM231	PTPN22	FANCM	B9D2	APC2	TRIM8	SPECC1L	TMEM270	BRIP1	BPTF	AQP2	FOXF1	NCAPG2	SDHB	RIPK4	ROBO2	DSTYK	LONP1	CPT2	SLX4	BICC1	STX1A	AVPR2	COL18A1	BAZ1B	RAB23	TCTN3	LHX1	HS2ST1	MAP3K7	KRAS	MFSD2A	UBE2A	TXNDC15	ERCC8	NRIP1	TAF13	JMJD1C	PLD1	GTF2IRD2	CEP152	SIX1	UBE2T	NDUFAF3	HOXA13	STRA6	SOX17	SPINT2	HES7	KCNQ1	GPC4	POLR3A	PPP3CA	ZMYM2	PHC1	PIGA	RFWD3	ERCC6	CDK5RAP2	RPL11	SOS2	ALG9	RREB1	IQSEC2	PIGP	CLIP2	NCAPD3	SLC25A22	GTF2IRD1	CEP55	RNU4ATAC	SIX5
HP_URETEROCELE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETEROCELE	PNKP	DMXL2	TRIM8	KCNA1	PLEC	NEUROD2	CASK	ITGB4	CDKL5	SCN1B	PEX6	PIGQ	LAMC2	HNF1B	LHX1	SCN2A	PIGP	SIK1	SLC25A22	LAMA3	TP63	LAMB3	GRM7	GNAO1	ITGA6	ARX
HP_URETERAL_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETERAL_STENOSIS	ZMYM2	APC2	KMT2D	SLC35A2	DHCR7	SETBP1	KDM6A	PIGL	TBX18	SLC26A1	SETD2	HNF1B	HOXA13	PRTN3	CTLA4	MYOD1	CDH11	BRF1	HLA-DPA1	PIGT	NODAL	DSTYK	YY1	EYA1	NSD1	SIX1	SIX5	FLNA	PTPN22	HLA-DPB1
HP_HYDROURETER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYDROURETER	SMC3	GPC3	FANCM	PLD1	ACTG2	CHRM3	RAD51	PALB2	TBX18	GLI3	UBE2T	MAD2L2	NDUFAF3	LAMC2	MYH11	FANCA	FANCC	BRIP1	EDNRA	ACTB	SOX17	FANCG	AQP2	FOXF1	PIEZO2	RIPK4	LAMA3	NAA10	TP63	LONP1	DYNC2LI1	LAMB3	ACTG1	FAM20C	MED12	FANCF	GPC4	LMOD1	ERCC4	SLX4	FANCD2	SETBP1	EVC	AVPR2	RFWD3	ERCC6	SOS2	ARID1B	RAB23	MYLK	PIGN	BRCA2	XRCC2	EVC2	HS2ST1	GLI1	FLNA	BCOR	MKKS	WFS1	FANCB	FANCL	RAD51C	BRCA1	FANCE	MBTPS2	ERCC8	FANCI	HPSE2	DDB1	RNU4ATAC	PIGT
HP_URETERAL_DUPLICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETERAL_DUPLICATION	CPT2	GPC3	PBX1	B9D2	APC2	PIGN	VANGL1	B3GLCT	CC2D2A	FIBP	ZMPSTE24	B9D1	CSPP1	LMNA	CEP290	GATA6	TMEM237	RPGRIP1	SETD2	AXIN1	COL18A1	TMEM216	KCTD1	TCTN3	PORCN	SLC6A17	SPINT2	TMEM107	TCTN2	NODAL	TXNDC15	SOS1	TCTN1	TMEM67	NSD1	PSMD12	TMEM231	FUZ	RPGRIP1L	GPC4	MKS1
HP_URETEROPELVIC_JUNCTION_OBSTRUCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETEROPELVIC_JUNCTION_OBSTRUCTION	HNF1B	ZMYM2	KMT2D	APC2	HOXA13	SLC35A2	MYOD1	DHCR7	BRF1	KDM6A	DSTYK	YY1	PIGL	TBX18	SLC26A1	SETD2	EYA1	NSD1	SIX1	SIX5
HP_RENAL_DUPLICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_DUPLICATION	GPC4	MLXIPL	GTF2IRD2	FKBP6	B3GLCT	PLEC	STX1A	GP1BB	FANCD2	ROR2	ITGB4	VPS37D	KANSL1	GPC3	BAZ1B	KCTD1	DVL1	ELN	ZEB2	BCL7B	TMEM270	GTF2I	SLC6A17	FOXC2	GP9	NCF1	METTL27	TBL2	CLIP2	RFC2	WNT5A	BUD23	GTF2IRD1	LIMK1	EIF4H	DNAJC30	GP1BA	ITGA6
HP_ABNORMALITY_OF_THE_KIDNEY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_KIDNEY	IL12A	TFE3	KAT6A	UMOD	WAS	GNA11	ZEB2	GSN	LZTFL1	RTTN	GPC3	MET	PRKCSH	FAH	CDC42	BBS4	F2	GATA3	CTNS	HSPG2	EXT2	HOGA1	SOS1	IFT140	HDAC4	FAM149B1	FANCF	ERCC4	LDLRAP1	AKT1	FANCD2	PAH	RBM10	FBLN5	KRAS	HELLPAR	PRMT7	PAX2	PTPRO	WDR19	ALOXE3	BBS5	ZIC3	TBC1D8B	RAD51C	DLST	FGF10	SI	PYGL	PHKB	DMP1	STIL	CCN2	TSC1	CEP290	NADSYN1	DIS3L2	TOGARAM1	ATP6V0A4	PHF21A	LTBP1	STAT4	PLAGL1	EHMT1	BBS7	SDHD	MED25	FANCC	CLCN5	PHYH	PUS3	SMARCB1	COL4A1	CASR	NDUFS8	COLEC10	MAD2L2	EHHADH	FANCA	KMT2C	PTCH1	CLCN3	JAK1	YAP1	COPB2	LAMB3	DDX6	PIK3C2A	SLC2A9	FAM20C	SLC34A3	RPL35A	RAI1	NUP37	RPS26	ITGB4	WNT4	NIPBL	CD96	FLNA	RMND1	LRP5	PEX12	OGG1	DUSP6	PCSK9	SMS	ARID1B	RPS15A	CEP41	NPHP1	CSPP1	FGF8	GNB1	MDM2	SOX10	CLCNKA	DYRK1A	DISP1	APOE	USF3	FIG4	VHL	DCDC2	ZPR1	PKHD1	PKDCC	GAPVD1	ALMS1	PBX1	AIRE	MT-TT	RPL15	ADAT3	MYL9	RTL1	KAT6B	RAD21	CHRM3	SLC12A1	NPHS1	WT1	DCC	FGFR2	LEMD3	REST	NDUFAF4	GNAS	H19	RAB3GAP1	BAX	TBX1	SDHAF2	CD46	F5	KCNH1	BRAF	FGF20	NODAL	OFD1	HNF1B	FRAS1	MCPH1	PDSS2	CORIN	TCN2	ADAMTS3	FBN1	KIF14	SLC5A2	PEX26	INVS	TMEM138	GCM2	CLPB	TP53	PIGL	MINPP1	SDHB	SMARCD1	PEX5	GLIS3	RET	GDF3	TSC2	RYR1	ERCC6	COL4A4	MYLK	KLLN	CLCNKB	BUD23	MKKS	TRIP13	NPHP3	LMNA	PMM2	MYOCD	FANCE	DNAJC30	DNA2	TFAP2A	PRCC	SLC34A1	PNKP	STX11	FLI1	BRCA2	SAA1	SCN1B	DEAF1	RARB	TAPT1	CCNQ	SDCCAG8	RPS19	TMEM107	LDHA	OSGEP	PIGT	DNAJC21	ERCC8	PDHA1	CACNA1S	DSTYK	DNAJB11	MT-TE	AVPR2	MT-ND6	B4GAT1	MKS1	TMEM260	EP300	KIF1B	PROK2	LMOD1	SHH	FIP1L1	B2M	LCAT	PIGQ	TMEM127	HNRNPK	LIG4	CLDN10	IFT172	GLA	KCNQ1OT1	CDKN1B	ETFA	WDR35	TMEM67	IARS1	SLITRK6	AFF4	ADCY10	BRCA1	GLIS2	CEL	IQCB1	NF1	APC	GAS1	FCGR2A	HDAC8	ALDH18A1	TLR2	G6PC1	PRPS1	SLC6A17	SCO2	CEP164	FOXRED1	CLEC7A	MAX	MBTPS2	NLRP3	LAMA3	CFTR	TCTN2	SLC4A4	ACTG1	CC2D2A	MT-TW	NUP85	ZMIZ1	FGF13	SLC7A9	TMEM216	TBC1D24	CENPF	ALDOB	GALNT3	PCK1	CDKL5	SLC26A1	TMEM237	ZNF148	FANCI	SLC25A20	MAFB	KNSTRN	SEMA3E	RPL5	MYO1E	NDUFAF2	OPLAH	CLDN19	IRAK1	COL4A3	C3	FGFR3	UFD1	MAGI2	SALL4	CCBE1	EN1	ITGA6	IGF2	DACT1	NUP133	TMEM70	USP9X	KCNAB2	FGFR1	MME	SF3B4	ANKS6	NUP107	WASHC5	OCRL	DSE	PPP1R15B	PIK3R2	ITGA8	AIP	HLA-B	MDH2	SRP54	CPLANE1	SETBP1	SLC1A1	KCNJ10	PLEC	XYLT2	SHANK3	LAMB2	SLC30A9	NSUN2	ELP1	UBR1	ADA	MCM5	ACTG2	ZNF592	LONP1	ALX4	LMNB2	MAPK1	CPT2	SIX5	TRAF3IP2	SNRPB	LTBP4	MASP1	CFH	ZBTB16	PIGA	AFF3	PEX1	CPOX	SLC6A20	CTH	REN	NDUFS3	HPRT1	ESCO2	PEX11B	DCLRE1C	NDUFB11	SNAP29	FGF17	B3GALT6	PC	MT-TS2	NR5A1	NUP93	PGAP3	ALG8	NOS1AP	PEX6	LRIG2	KIF7	BAZ1B	TCTN3	NEU1	PLA2G2A	HGD	SDHC	SLC4A1	EBP	WIPF1	TRAF3IP1	MT-ND5	BBS10	TXNDC15	MT-TV	MT-ATP6	PDGFRL	NPHS2	COQ8B	DYNC2LI1	HLA-DRB1	NUMA1	DMRT3	PDE6D	FLCN	ERBB3	CFB	TYR	UBE2T	NBN	MMUT	BBIP1	RPGRIP1L	TAOK1	MRPS22	CHST14	GBA	LPIN1	NDUFA11	WDPCP	FH	ATN1	INTS1	PTEN	MT-CO1	MOCS2	TTC8	STXBP2	SOCS1	ACTN4	ZMYM2	RPL31	NDUFV2	NDUFA6	ITGA2	RFWD3	B3GLCT	WDR73	ARHGDIA	CA2	TSR2	ENG	IQSEC2	SLC7A7	CLIP2	SERPINF2	FAS	GTF2IRD1	RMRP	CEP55	RNU4ATAC	COG7	CWC27	B9D1	IL7R	SRCAP	KANSL1	MT-ND3	PREPL	NDUFV1	GTF2I	SCN2A	CTLA4	SUCLG1	PEX19	TCF4	FAM20A	WFS1	PGAM2	GPC4	MITF	RAG1	IFT27	LETM1	BUB1	FIBP	MT-TH	MSH6	SPP1	ALG9	GDF6	SMARCA4	CASP10	NDUFAF1	NABP1	ADA2	RASA1	LRP2	PAFAH1B1	COLEC11	PCK2	NTRK1	NDUFS1	LMAN1	CCND1	THBD	BUB1B	DICER1	TRIM28	ABCC6	FUT8	RECQL4	EMP2	HNRNPU	LDLR	SREBF1	WDR4	SLC3A1	TNXB	MYOD1	CHD7	CFI	EYA1	NPHP4	RPS10	TREX1	TASP1	CDON	INSL3	MT-CO2	STAT1	FLRT3	ATRX	PIGV	PRDM16	POGZ	FANCL	RAB18	IFNG	PIGN	POU3F4	GP9	NUP205	NDUFAF3	FAT4	APRT	TMEM231	ARL6IP6	SMC1A	ATP7A	NUP160	DNASE1L3	C4A	AGXT	CDC73	ASXL1	VAMP7	RERE	HBB	CD2AP	PLG	MYH9	MEFV	KYNU	TRRAP	TLR4	CCR6	FGF23	PKD2	SLC2A2	KIAA0753	ELN	MYMK	LYZ	BMP4	KCNJ1	KCNJ2	TGIF1	PGAP2	FOXP1	SDR9C7	ETFB	PLCD1	BLM	CCDC141	SIK1	FOXH1	AGTR1	FOXP3	GRM7	BICC1	MARS1	RPS24	MEG3	CFHR5	IFNGR1	CCND2	LAGE3	TBX18	RRM2B	DGKE	SASS6	FOXE1	LMX1B	SALL1	PRTN3	PIK3CD	WNT9B	COG6	CYP4F22	CFAP418	AVIL	HLA-DPB1	GLI2	ADGRG2	PHEX	SLC22A12	UNC13D	NPM1	UBE2A	IL23R	DYNC2H1	NEK8	BCS1L	C1QC	FGA	PPOX	FLNB	CIT	MLXIPL	FN1	NDUFB9	ARID2	ROR2	NEUROD2	XRCC4	ASPM	TKT	MCTP2	CFHR1	MT-CYB	FBXW11	KCTD1	SURF1	BTNL2	TACR3	CAMKMT	VPS33A	HMGA2	VAC14	PGM3	PUF60	BBS9	CEP135	KMT2D	KIRREL1	PEX13	MOCOS	UBE4B	IL17RC	NSD2	WRN	ARVCF	CREBBP	HOXD13	NDUFAF8	NOTCH2	IL17F	KCNJ11	IDH1	BBS1	SMAD4	MT-ND2	SCNN1B	SOX4	DKC1	POR	SMARCC2	SHOC2	BSCL2	ANLN	RPS20	AXIN2	TP63	ALOX12B	PAX1	INPP5E	MMP23B	IFT43	HAAO	PIK3CA	SCNN1A	DLC1	EVC	SUFU	NAA10	RPGRIP1	CRB2	GREB1L	POMT2	RPL26	MUC1	ALDH4A1	CYB561	CHN1	SEC23B	TRIM8	SPEN	HMBS	BBS12	SPECC1L	FBXL4	STAG1	IKZF1	ENPP1	BRIP1	AQP2	ROBO2	SEMA4D	PEX10	HESX1	DPF2	LMBRD1	PTPRJ	NDUFAF6	STX1A	GCK	PTPN11	RAB23	COL3A1	RPL11	PEX7	COL7A1	TMEM126B	PIEZO2	NRIP1	JMJD1C	MLH1	GTF2IRD2	MTX2	PIGO	PRKCD	MEN1	CACNA1D	DNASE1	LUZP1	APOL1	TBX15	DYNC2I2	MAP2K2	CHEK2	COQ7	B9D2	CDKN2A	KLRC4	COL4A5	IRF2BP2	ZAP70	NDUFS2	SPINK5	DHX37	MYO5B	COQ6	CTNNB1	GABRD	SKI	CDK5RAP2	PTH1R	IFT80	DLL1	SPRY4	TRPC6	WNT3	EDNRB	TMEM218	SLC25A22	MT-TQ	LARGE1	IL12A-AS1	FKTN	CDKN1C	CDKN2B	TBCK	CCDC28B	PDX1	INF2	FREM1	MNX1	HRAS	MYH11	CEP120	PEX3	PDE8B	RNF139	EIF4H	PIGW	APOB	CTU2	TTC26	PBRM1	C1QBP	ERAP1	C1QA	EVC2	CEP19	MT-ND1	STRADA	SHPK	ARNT2	CILK1	SC5D	LRP4	F8	DDX59	RNU7-1	SMC3	PNPLA6	HYMAI	TPRKB	MSH2	SMARCAL1	NEUROD1	CPLX1	FREM2	MT-TF	HS6ST1	RPL27	FANCB	SPTBN1	KARS1	KDM6A	SERPINA1	MMACHC	SMOC1	NDUFB10	DYNC2I1	PRKACA	ITPR3	TTC37	KCNA1	ARMC5	TELO2	BLK	WDR62	PLCE1	JAG1	CD109	MT-TL1	TIMMDC1	METTL27	DHCR7	KRT17	BCOR	PGK1	CEP57	MSH3	TMCO1	STS	PEX16	PKD1	GATM	DHDDS	PTPN22	GANAB	COX14	TRIM32	ZFPM2	GLI3	ITGA2B	GBE1	DHODH	LIPT2	AP2S1	IL17RA	COL4A6	RBBP8	COL14A1	CYP24A1	TTR	NDUFS7	FKBP6	MAPKBP1	BRD4	NSD1	FLT1	MT-TK	OTUD5	GLMN	WWOX	NFS1	HSD11B2	SLC5A1	PEX14	PYCR2	SOX9	VPS37D	CLDN2	INS	SCARB2	EIF2AK3	GON7	LIPN	SLC29A3	NFIA	APOA1	ZNFX1	ATP1A1	ARHGAP24	YWHAE	AHI1	XRCC2	THOC6	HNF1A	KCNE5	AGGF1	MVK	ACP5	PORCN	PRF1	SERPINH1	AKR1D1	PIGG	NDUFB3	YRDC	PROKR2	AKT3	BSND	RIPK4	ABCA12	ABCC8	ETFDH	SNRPN	STAT3	IRF5	HNF4A	OSTM1	PAX4	HSPA9	ANTXR1	TALDO1	UMPS	PRKAR1A	TBX22	INSR	RPS28	PRKCZ	DCHS1	TBX3	RPL35	CDK4	KNL1	FKRP	NOTCH3	NEXMIF	ALPL	UBAC2	ADAMTSL1	AURKA	VANGL1	MAGED2	PACS1	SLC12A3	PDGFRB	SLC37A4	HIRA	STX3	METTL5	PALB2	ARL6	VIPAS39	AGPAT2	XPNPEP3	HYLS1	HPS1	COG1	FANCG	STOX1	ARX	MT-CO3	FAN1	TTC21B	PDPN	PHKA2	TP53RK	CCR1	GP1BB	NDUFB8	COQ2	SRC	SEC24C	TRIM37	SRY	ZNF687	NRAS	APC2	G6PC3	KEAP1	RSPO2	KIAA0586	MAP2K1	ZNF423	FOXC2	DZIP1L	FCGR2B	MAP3K1	FOXF1	COA8	RAB3GAP2	KMT2A	HABP2	CEP83	TDGF1	NDUFS4	OCLN	ALDOA	TRIP11	KITLG	SLX4	GDF2	PIGY	SMO	LHX1	KCNJ5	SCAPER	MAP3K7	MFSD2A	CRTAP	CFHR3	F10	SEC61A1	MPDU1	PDE11A	CCDC22	CEP152	PLVAP	NOD2	GPR35	SPRY2	STRA6	DLK1	HOXA13	PEX2	BBS2	SOX17	MT-ND4	C1QB	RAD54B	GEMIN4	TBL1XR1	SLC35A2	RORA	ANOS1	KCNQ1	TGM1	PPP3CA	CD151	SON	SDHA	RPS29	GRIA3	NEK1	RREB1	CDKN2C	MOCS1	EXTL3	NCAPD3	RBM8A	NUBPL	SIX1	SNAI2	FASLG	COMT	KLF11	BNC2	GATA1	SKIV2L	RAD51	RAG2	LPIN2	AMMECR1	ACTB	NCF1	SLC25A11	LMNB1	COPA	YY1	TOR1A	NELFA	MED12	CDKN1A	RPL18	AGT	AMER1	ALG1	CEP63	MLH3	KANK2	DNMT3A	NDNF	NDUFS6	MCC	MYCN	IFT74	JAM3	GNAO1	PHKG2	NADK2	MID1	DAAM2	PHGDH	CHD4	WAC	SBDS	MEOX1	SGPL1	PPP2R1A	BCL7B	TRNT1	CHUK	ARID1A	HLA-DPA1	USP8	ACVRL1	PAX6	SIX3	SLC17A5	TOPORS	SOX11	GPKOW	UQCC2	PPM1B	CAV1	POU6F2	NXN	ATP7B	BRF1	ATP6V1B2	MYD88	EPG5	ANKRD17	EFEMP2	MRPL3	VPS33B	SLC36A2	CISD2	NR0B1	SLC41A1	DLL4	CENPJ	RFC2	POMT1	PML	PRDX1	ZIC2	BICRA	GCDH	CPT1A	GRHPR	CTBP1	AAGAB	TCTN1	BMPER	ABCG8	DMXL2	CYBC1	FLII	SLC26A4	CASK	DVL1	SLC6A19	SOX18	DHCR24	FUZ	ACE	WBP11	GRIP1	ANKLE2	WNT5A	PQBP1	ADAMTS13	WDR11	CAD	KAT5	NDUFA1	STK11	NDUFAF5	LIMK1	XYLT1	RPS17	RPS7	HSD17B4	STAT5B	SPOP	CHRNA3	FEZF1	MCFD2	SEC63	GLI1	CDK6	PAX7	SH2B1	RPS27	HPSE2	DDB1	ZNF699	ABCG5	CD81	NIPAL4	SARS2	INTU	SETD2	SEMA3A	ACSL4	PGM1	LAMC2	TBC1D20	ATP6V1B1	ITGB3	MIA3	TXNL4A	P4HA2	IL17RD	SLC34A2	STXBP1	SMARCE1	SCNN1G	TRAPPC14	SPRED1	GNB2	RAF1	APPL1	BUB3	TBL2	YY1AP1	ZFP57	NSDHL	FANCM	MTRR	DPH1	SLC9A3R1	GATA4	IL2RG	RARA	TMEM270	VDR	RASGRP1	NCAPG2	IL10	STAT2	GP1BA	PNPLA2	FXYD2	MMP1	HMOX1	HS2ST1	CASZ1	ARL3	PYGM	HIC1	ITGA3	MT-TN	TAF13	IFT122	PLD1	CLDN16	PTPN12	SPART	PPP2R3C	XDH	PRODH	MST1	SULT2B1	BAP1	SSR4	IPO8	POLR3A	POLE	PHC1	FOXI1	IFIH1	IL6	ANKFY1	PIGP	EPAS1	MGME1	CAPN15	NARS2	DHX16
HP_ABNORMALITY_OF_REPRODUCTIVE_SYSTEM_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_REPRODUCTIVE_SYSTEM_PHYSIOLOGY	TP53	LMNA	PROM1	AR	MECP2	LHX4	LZTFL1	CCDC40	FCGR2A	CDKN1C	CDKN2B	CCDC28B	NDN	STUB1	ABCD1	BMP15	RRAS	TXNRD2	CFTR	BBS4	F2	DNAAF5	RIT1	RNF212	FANCC	SNRPN	PDE8B	GTF2H5	MCM9	DCAF17	EIF4H	TGFB1	DNAL4	AIP	FANCF	ERCC4	TTC12	FANCD2	ERCC2	AURKC	NBEAL2	SMARCE1	POLR3A	HTT	HSD3B2	BBS5	GCM2	NR5A1	RSPH1	CDC14A	BRCC3	PHKB	MT-CO1	CCN2	TRAF7	OFD1	CEP290	WT1	CEP19	MT-ND1	LRAT	FGFR1	POLR1C	SERPINE1	SLC7A14	PCARE	F8	BRDT	SMC3	SEMA3E	LHB	DNAAF1	GNRHR	DUSP6	PANX1	BBS7	CYP17A1	DHH	NTN1	HGSNAT	SOX2	ERCC1	CDH23	CTNNB1	MAD2L2	DNAH1	RTN2	FANCA	MT-TF	HS6ST1	SCP2	FANCB	RSPH9	CDON	ALMS1	RAB3GAP1	SPEF2	NANOS1	C14orf39	PRY	DNAAF6	PRKACA	TEX14	MEIOB	NSMF	MAGEL2	ODAD3	PSMC3IP	ARMC5	SYCP2	CRX	CLPP	FLI1	TDRD9	ESR1	MT-TL1	DNAJB13	USP9Y	TERT	FGF8	METTL27	FGB	NPAP1	PDGFB	SOX10	CFAP298	ARL6	RAB3GAP2	NDNF	STS	LRRK2	GP1BA	OCA2	PKD1	GUCA1B	PIK3CA	GLI2	TUBB8	GANAB	AIRE	FOXL2	CERKL	SPIDR	PRKN	RP1L1	PATL2	DBH	RAD21	CHRM3	TRIM32	PNPLA6	DNAH5	ZFPM2	DCC	NR0B1	CCDC39	GNAS	VPS4A	ELN	DIAPH2	DNAAF11	FMR1	FSHB	IL17RA	F5	SPAG1	ODAD1	KRAS	SRD5A2	VPS13C	HPS4	FGG	TACR3	TTR	SLC25A13	FKBP6	AMHR2	BMPR1B	HSD17B3	BRD4	AK7	AGBL5	ITGA2B	MKKS	ERAL1	CCDC65	VCY	VWF	RRM2B	POLA1	SPRY4	WWOX	CFAP70	BUD23	IFT74	ANAPC1	CEP112	NPHP3	GBA2	DDX3Y	PMM2	FANCE	PRCD	DNAJC30	GDF9	RNU4ATAC	TFR2	HDAC8	WDR19	CYP11A1	SIL1	FAS	CATSPER2	ASTL	VPS37D	POC1A	CLDN2	PLCZ1	RCBTB1	H6PD	DHDDS	ARL2BP	SDCCAG8	DAZ3	PTDSS1	SUN5	B4GALNT1	PHF6	CCDC8	GP9	ERCC8	TP63	DNAJB11	SNORD115-1	CFAP52	SLC29A3	KISS1	CYB5A	HARS2	PROK2	ERCC6	FIP1L1	YARS1	XRCC2	PLXND1	THOC6	WEE2	RNF216	F13A1	SEMA4A	RPS4Y2	LEP	CACNA1G	AGGF1	MCFD2	GJB2	BRCA1	CAV1	PRPF31	AKT2	PTPN11	IQCB1	MEI1	TSPY1	ZMYND10	MT-ND6	ARMC2	PROKR2	DRC1	PRPF3	PMFBP1	FGF17	STAT3	CPE	PRKCD	ERCC3	BRAF	IFT140	DZIP1	BNC1	RAF1	CEP164	CLEC7A	SLC40A1	PINK1	IRF5	STRC	RP1	F13B	LIG3	ANTXR1	PRKAR1A	QRICH2	MT-TW	GATA3	PRKCZ	PPP2R3C	TBX3	CFAP69	CTDP1	STEAP3	BCS1L	RIN2	MAP3K1	NECTIN1	WDR11	WAS	CUL4B	SOHLH1	TWNK	EIF2B2	SRY	IFT88	FAM161A	XPA	HLA-DQA1	SLC37A4	CBX2	MCIDAS	PALB2	KCNAB2	PDE6A	AGPAT2	KLHL7	DHX38	PPARG	TEX15	GP6	FANCG	MKS1	OCRL	GUCY1A1	PCSK1	SMARCB1	SOS1	ROM1	CFAP65	HLA-B	MSTO1	CDY1	MT-CO3	RDH12	BLOC1S3	SUFU	PDPN	PHKA2	PRPF6	GP1BB	GGPS1	LEPR	F7	NUP107	GAS2L2	NRAS	SOS2	FSHR	GNRH1	COQ2	ADGRG2	MRPS22	TRAF3IP2	STK11	XPC	CFAP58	ZBTB16	SNRNP200	PIGA	WNT7A	CCNO	RBMY1A1	PDE4D	APC2	HSPG2	HSD17B4	KIT	MSH5	AXL	PROP1	AHSG	AMACR	NIPBL	DDB2	SPEN	BLOC1S5	USP7	SNAP29	BPTF	DAZ2	PRLR	MT-TS2	UBAP1	RBP3	PHGDH	FOXJ1	SLX4	PRPH2	SAG	DNAI2	MPLKIP	KDM5D	RPGR	FIGLA	CISD2	CDKN1B	POU1F1	BAZ1B	BAP1	RHO	SCAPER	INPP5K	SLFN14	WIPF1	BEST1	RRAS2	TBL1X	RBM28	TRAF3IP1	CFAP43	LIG4	MT-ND5	MERTK	MRAP	BBS10	ATM	GALC	SYCP3	GPR101	F10	MEN1	FEZF1	PDE11A	NUMA1	FOS	POLG	DMRT3	ZNF513	ACTL9	FANCM	ATP7B	NIN	HTRA2	HERC2	UBE2T	NBN	HESX1	RP9	BBIP1	FSCN2	TTC8	BBS2	C11orf80	WDPCP	STK36	TBL1XR1	BPY2	KLHL10	ANOS1	SOX9	CLRN1	WNT4	HLA-DQB1	NEK10	TERB2	TULP1	RFWD3	SPATA16	FGFR3	PEX1	CRB1	EIF2B3	MC2R	CDKN2C	CLIP2	DHX37	HFM1	CBL	GTF2IRD1	SEPTIN12	PNLDC1	SEMA3A	PLAU	IGF1	HYDIN	SACS	FASLG	POF1B	OPA1	ALX4	POLR3K	RAD51	GBA	ITGB6	DNM1L	PARK7	KIZ	TERB1	PREPL	GTF2I	NEK2	SOX3	NCF1	DNAAF2	MYH9	CDKN1A	WFS1	IMPG1	IFT27	ALG1	ODAD4	GALK1	LRRC56	MT-TH	ZMPSTE24	ALG9	CHD7	CASP10	USP8	DNAI1	POMGNT1	NABP1	EIF2S3	GALT	FANCL	POLR3B	LMAN1	PHKG2	REEP6	PLAG1	CAVIN1	HSF2BP	SGPL1	MRAS	ABCA4	BCL7B	MYH3	CFAP300	SLC3A1	NDP	PRKACG	NPHP4	MKRN3	OTX2	SPATA7	HPS5	NPHP1	DNAJC6	POLD1	LHCGR	ARSL	PODXL	POR	PTCH2	PPM1B	MT-CO2	FLRT3	ATRX	PRDM16	TAC3	TSGA10	FSIP2	OBSL1	HNF1B	TEX11	RSPH3	FANCI	SMC1A	CNGB1	EIF2B1	EIF2B4	DMPK	HEXB	BCOR	STAG3	M1AP	VAMP7	RERE	MRE11	HBB	IFT172	DNAAF4	ZMYND15	ZNF408	FGA	LSS	CA4	SMCHD1	RFC2	CCR6	PDE6G	CFAP251	EIF2B5	PML	PLIN1	HJV	PKD2	SPRED2	HMGA2	BMP4	IMPG2	RGR	ERCC5	CDHR1	HFE	NR3C1	BLM	CCDC141	DMXL2	CFAP47	REV3L	ZBTB20	RAD51C	EYS	ZP1	PRPF8	KISS1R	SLC39A4	BICC1	SLC2A3	CNBP	BMP2	ARHGEF18	LIPE	REC114	TUB	SYCE1	HAMP	CYP11B1	PDE6B	CFAP418	ZFHX4	ODAD2	SNCA	CFAP410	CHRNG	PAPSS2	BSCL2	PSMD12	NPM1	GHR	COL25A1	DNAH2	MDM2	BRCA2	CYP19A1	MT-ND4	SNORD116-1	CIDEC	CFAP221	DNAH17	CFAP91	BTG4	MLXIPL	USH2A	SMAD4	IRF4	TKT	MGME1	DMRT1	NR2E3	RP2	LIMK1	CAMKMT	STAR	BBS12	IGF2	TRIP13	PSMB8	IMPDH1	BBS9	PGR	IER3IP1	STAT5B	GAS8	TTI2	MNS1	NF2	DNAH10	SIX6	LARS2	DNAAF3	UBE4B	IL17RC	WRN	AHR	FOXA2	SMO	DAZ1	IL17F	DAZ4	BBS1	NSD1	AKT1	AMH	IDH3B	DNAH8	PTCH1	LHX3	SETD2	ATXN8OS	SAMD9	NNT	SPINK2	GPR161	MMP23B	RPE65	ITGB3	IL17RD	MCM8	SLC34A2	TTC29	SLC26A8	NRL	IDH3A	LAS1L	TYMP	TBL2	SRA1	CATSPER1	PWAR1	TOPORS	ROBO1	RASA2	CUL7	HSFY1	CATIP	DNAH9	ANK1	IKZF1	GATA4	RARA	TMEM270	BRIP1	POLR3H	DNAL1	RASGRP1	RECQL4	INVS	SIM1	STX1A	RSPH4A	MAK	KIAA1549	TLE6	ARL3	TAF4B	POLG2	CASZ1	ITGA8	AARS2	CNGA1	LMNB1	PADI6	LZTR1	GTF2IRD2	ESR2	BCL10	TRMT10A	MAP2K1	CCDC103	LUZP1	PWRN1	SYNJ1	SPAG17	CFAP45	CTNS	POLE	IRF2BP2	PEX6	GABRD	SKI	MCM3AP	PRPF4	UCHL1	ZP2	F11	RLBP1	DNAH11	CFAP44	HLA-DRB1	NME8	CDY2A	MT-TQ	NOBOX	MRPS7	PRY2	ZP3	AHI1
HP_DUPLICATED_COLLECTING_SYSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUPLICATED_COLLECTING_SYSTEM	KMT2D	IARS1	TNXB	PIGA	MAPK1	FANCC	KDM6A	LAMA3	TELO2	FANCD2	POGZ	TP63	PIGL	LAMB3	JAG1	SHOC2	OTUD5	FANCE	FANCA	LAMC2
HP_RENAL_INSUFFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_INSUFFICIENCY	NPHS1	FASLG	IL12A-AS1	MYO1E	OFD1	IL12A	UMOD	TMEM237	BBIP1	GSN	BNC2	LZTFL1	COL4A1	CFH	RAD51	INF2	FAH	AMMECR1	GATA3	HPRT1	GTF2I	FANCC	NUP133	CTNS	CTLA4	NCF1	TRPC6	EIF4H	IFT140	TCF4	FAM20A	MED12	DZIP1L	ALG1	FANCF	PGAM2	ERCC4	TTC26	HLA-B	FANCD2	SDCCAG8	WT1	ERAP1	NPHP1	HELLPAR	SPP1	PAX2	WDR19	ALOXE3	ALG9	TBC1D8B	RAD51C	MYCN	PEX7	CASP10	CCN2	TMEM216	SHPK	FANCL	NTRK1	STAT4	THBD	RNU7-1	SMC3	IQCB1	CHD4	PNPLA6	TSC1	CLCN5	TPRKB	PUS3	SMARCAL1	DNAJB11	SGPL1	WDR35	MAD2L2	EHHADH	FANCA	WDR73	BCL7B	B2M	HLA-DPA1	HRAS	KARS1	PKD1	ALMS1	CFI	EYA1	NUP37	NPHP4	MMACHC	PAX6	RMND1	HNF1B	CAV1	IFT43	PLCE1	JAG1	CSPP1	COL4A4	METTL27	NUP205	DCDC2	PGK1	CPT2	CLCNKA	NPHP3	FANCB	APRT	STS	FANCI	SMC1A	MYD88	GATM	NUP160	DHDDS	PKHD1	PKDCC	GAPVD1	PTPN22	PBX1	GANAB	AGXT	CCNQ	MT-TT	RAD21	CHRM3	HBB	CD2AP	DYNC2I1	MYH9	MEFV	SLC41A1	EHMT1	KYNU	ELN	SLC34A1	TLR4	CD46	AP2S1	COL4A6	DNASE1L3	RFC2	CCR6	EMP2	CDC73	IFT172	MAGI2	CORIN	TCN2	PRPS1	PKD2	PRDX1	FKBP6	INVS	GCM2	MAPKBP1	CLPB	GCDH	TMEM67	BRD4	ACTN4	FLT1	DYNC2H1	TSC2	SDR9C7	GRHPR	RYR1	ERCC6	NUP93	BUD23	NFS1	MYOCD	FANCE	DNAJC30	HSD11B2	BICC1	LMX1B	SLC5A1	RPGRIP1L	MMUT	FAS	SAA1	CFHR5	IFNGR1	LAGE3	CCND1	TBX18	VPS37D	MEN1	FN1	DGKE	C4A	SALL1	PRTN3	SOX18	MT-TL1	CYP4F22	SCARB2	LDHA	NUP107	OSGEP	ERCC8	COL4A3	CACNA1S	SLC2A9	AVIL	SCNN1B	SLC3A1	EIF2AK3	MT-TE	BSND	GON7	LIPN	FUZ	HLA-DPB1	TMEM138	TMEM260	ZNFX1	SLC22A12	ARHGAP24	LCAT	AHI1	MDM2	IL23R	BRCA2	XRCC2	TTC21B	CLDN10	KCNE5	GLA	HLA-DRB1	PHYH	BRCA1	ACP5	GLIS2	OCRL	PPOX	YRDC	MLXIPL	HDAC8	ABCA12	PRKCD	CFHR1	KCTD1	CEP164	IRF5	BTNL2	NLRP3	LIMK1	LRIG2	CC2D2A	TMEM231	CEP290	CEP120	NUP85	SLC7A9	INPP5E	CHRNA3	SLC26A1	MOCOS	MAFB	IRAK1	C3	SH2B1	MT-CO3	UBAC2	NSD1	ZNF699	CD81	NIPAL4	SARS2	VANGL1	SLC37A4	NOTCH2	PALB2	SETD2	MME	ANLN	ACSL4	XPNPEP3	HPS1	ANKS6	COG1	ALOX12B	FANCG	STOX1	PTPRO	APOL1	NPHS2	SLC7A7	FAN1	P4HA2	SCNN1A	TP53RK	CCR1	LAMB2	SCNN1G	SLC30A9	BBS9	DACT1	ELP1	CRB2	CLCNKB	ZNF592	TBL2	CLDN19	MUC1	ALDH4A1	SIX5	PIGA	FANCM	APC2	ARHGDIA	MT-TK	HMBS	NIPBL	APOE	IKZF1	KIAA0586	ZNF423	TMEM270	BRIP1	IFT27	AQP2	RASGRP1	IL10	SEMA4D	DSTYK	CEP83	OCLN	STAT2	ALDOA	SLX4	NDUFAF6	NOS1AP	STX1A	AVPR2	SRCAP	FXYD2	BAZ1B	MMP1	COL4A5	LHX1	LPIN1	COL7A1	TMEM126B	TRAF3IP1	REN	PYGM	ITGA3	CFHR3	IFT122	COQ8B	SEC61A1	GTF2IRD2	DYNC2LI1	CLDN16	CFB	UBE2T	NOD2	HPSE2	GPR35	NEK8	SPRY2	BBS10	HOXA13	MST1	SULT2B1	DYNC2I2	MT-CO1	KLRC4	TGM1	CD151	IFT80	LEMD3	RFWD3	ALDOB	ANKFY1	CLIP2	GTF2IRD1	SIX1
HP_HORSESHOE_KIDNEY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HORSESHOE_KIDNEY	KAT5	PBX1	AFF3	CCNQ	RPL15	SRY	FGFR2	ARID2	GATA1	ESCO2	LEMD3	KDM6A	RBM8A	MNX1	HRAS	STAG1	AFF4	DYNC2LI1	FAT4	DPF2	RPL18	RPS17	RPS7	HMGA2	ADAMTS3	SLX4	RBM10	BICRA	RPS28	KRAS	FANCD2	NRAS	SMARCD1	FANCI	RPL35	WT1	SALL4	MYCN	SMARCA4	PUF60	CFAP418	SEMA3E	RPL11	SON	CHST14	CHD7	RPL5	MAP3K7	COLEC11	CCBE1	RPL26	RPS27	THOC6	DDB1	FANCE	FANCA	SC5D	DDX59	CD96	SOX4	FANCC	RPS24	SMARCB1	DKC1	POR	SMARCC2	COLEC10	HNRNPU	RPS20	RARB	STRA6	ADA2	RPS19	CHUK	RPL27	PAX2	ARID1A	DSE	DSTYK	RPL35A	SSR4	RPS10	SMOC1	RPS26	RPL31	SOX11	HNF1B	SMARCE1	ARID1B	TCTN3	RPS15A	UBE2A	RPS29	TSR2	GREB1L	PORCN	EXTL3	ZIC3	SNRPB	CAPN15	CWC27
HP_ECTOPIC_KIDNEY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTOPIC_KIDNEY	PBX1	WAC	MLXIPL	GTF2IRD2	CCNQ	VANGL1	USP9X	FANCC	PIK3CD	KDM6A	RTTN	RIPK4	FGFR1	VPS37D	GLI3	XRCC4	LEMD3	ELN	FANCF	STRA6	ZEB2	BCL7B	KMT2D	TMEM270	GTF2I	CCBE1	APC	NCF1	RFC2	FAT4	SPECC1L	LIMK1	DDX6	EIF4H	RPS26	SALL1	RBBP8	FUZ	HMGA2	ADAMTS3	NIPBL	ZMYM2	PUF60	SLX4	FKBP6	SPINK5	STX1A	DDX59	SMS	FANCD2	GNB2	DACT1	WT1	SALL4	BAZ1B	ARID1B	KNSTRN	METTL27	TBL2	CLIP2	HOXD13	BUD23	JAM3	GTF2IRD1	SNRPB	DYRK1A	DNAJC30	MAFB	DNA2	CHN1	LRP4	FANCE	FANCA	NRIP1
HP_RENAL_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_HYPOPLASIA	RFWD3	PBX1	AFF3	MLXIPL	COMT	DCHS1	TMEM67	FAT4	COX14	SKIV2L	GLI3	XRCC4	LEMD3	KYNU	TRRAP	ELN	DLL4	TMEM270	GTF2I	TBX1	CEP120	NCF1	FBXW11	ARL6	KCTD1	RFC2	NCAPG2	ROBO2	LIMK1	NODAL	EIF4H	DYNC2I2	HSPA9	FRAS1	HMGA2	PUF60	KIF14	FKBP6	STX1A	TBX3	CENPF	BMP4	PRMT7	KCNJ2	FANCI	RAD21	BAZ1B	RPS19	ARVCF	CHD7	WDR19	BUD23	FGFR3	UFD1	REN	SALL4	PAX2	DNAJC30	ERCC8	ZNF699	LRP4	PIEZO2	SEMA3E	JMJD1C	MBTPS2	GTF2IRD2	INTU	HIRA	NOTCH2	TBX18	VPS37D	FREM2	RARB	FGFR2	FANCF	STRA6	KCNJ5	BCL7B	SALL1	MYOD1	FGF10	GEMIN4	PPP1R15B	ATN1	HAAO	DYNC2I1	NIPBL	TXNL4A	RMND1	NFIA	TTC37	ATRX	ERCC6	DACT1	FANCL	NAA10	JAG1	B3GLCT	ARID1B	IFT80	MCM5	PDE6D	MDM2	HNF1B	DYNC2H1	SEC24C	RREB1	METTL27	RNU4ATAC	GRIP1	TBL2	CLIP2	DHCR7	WDR35	GP1BB	BCOR	MUC1	GTF2IRD1	CEP55	PQBP1	DCDC2	ZPR1
HP_NEPHRONOPHTHISIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEPHRONOPHTHISIS	ZNF423	WDR19	TMEM67	DYNC2LI1	NPHP3	DYNC2I1	NPHP4	TTC21B	NEK8	XPNPEP3	RPGRIP1L	ANKS6	CEP164	SDCCAG8	IFT172	CEP83	IFT140	DYNC2I2	INVS	TRIP11	CEP290	CEP120	NPHP1	FAN1	TMEM216	TMEM138	MAPKBP1	IFT80	IFT43	DYNC2H1	CEP41	AHI1	TRAF3IP1	DCDC2	GLIS2	IQCB1
HP_ABNORMAL_RENAL_TUBULE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_TUBULE_MORPHOLOGY	ALMS1	MT-TL1	MLXIPL	MYO1E	UMOD	MRPL3	TMEM67	BSND	REN	NPHS1	SLC41A1	ELN	MT-ND3	TMEM270	GTF2I	GBE1	FOXC2	NCF1	SLC22A12	SCO2	RFC2	SURF1	BTNL2	ACP5	LAMA3	LIMK1	CEP83	EIF4H	AGT	CLCN5	FKBP6	INVS	NDUFAF6	STX1A	NPHP1	PTPRO	MT-TK	BAZ1B	ANTXR1	WDR19	TRAF3IP1	BUD23	CLCNKB	VPS33A	SHPK	PMM2	AGTR1	DNAJC30	MT-TV	FOXP3	ITGA3	MT-ATP6	IFT122	NUP133	GTF2IRD2	SLC12A3	SLC37A4	PUS3	NPHP3	VPS37D	MT-ND2	DPH1	LAMC2	XPNPEP3	RPGRIP1L	MRPS22	BCL7B	NUP107	PKHD1	MT-ND4	OCRL	LAMB3	SLC2A9	MMUT	MT-ND6	FAN1	NDUFS2	NDUFB8	SLC30A9	COQ2	ACE	MT-ND5	METTL27	SLC7A7	TBL2	CLIP2	GLA	MT-TW	CPT2	BCS1L	MUC1	NPHP4	NDUFAF3	GTF2IRD1	HLA-DRB1	PDSS2	CTNS	GLIS2	DCDC2	MT-ND1
HP_RENAL_TUBULAR_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_TUBULAR_ATROPHY	NUP133	NUP107	CLCN5	MYO1E	UMOD	TMEM67	NPHP1	MUC1	NPHP4	REN	NPHP3	VPS33A	CEP83	NPHS1	GLIS2	ITGA3	XPNPEP3	RPGRIP1L
HP_GLOMERULAR_SCLEROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLOMERULAR_SCLEROSIS	NF1	NPHS1	GAPVD1	MYO1E	MT-ND6	CD2AP	RET	TBC1D8B	BSND	TRIM8	WT1	INF2	FAH	G6PC1	SDHAF2	NUP133	SLC25A11	SLC37A4	SMARCAL1	TRPC6	VHL	EMP2	MT-TS2	MAGI2	LMX1B	NUP93	CLCN5	MT-TW	NUP85	PLCE1	KIRREL1	NOS1AP	MT-TH	ACTN4	PAX2	PTPRO	DNMT3A	NUP107	DLST	MT-CO1	COQ2	SDHC	MT-ND1	COL4A3	REN	CLCNKB	MT-ND5	VPS33A	TREX1	SDHB	ITGA3	RNU7-1	DAAM2	NPHS2	COQ8B	SEC61A1	SLC12A3	MTX2	TPRKB	LAGE3	SGPL1	ANLN	ELP1	WDR73	MT-TF	NUP160	APOL1	SCARB2	MAX	OSGEP	FH	NUP37	GON7	NUP205	CRB2	MDH2	ITGB4	MT-CO3	PLEC	TP53RK	MT-CO2	KIF1B	COQ6	SDHA	ARHGAP24	JAG1	ARHGDIA	MT-TL1	TMEM127	ANKFY1	EPAS1	MT-ND4	MUC1	SDHD	MT-TQ	NARS2
HP_FOCAL_SEGMENTAL_GLOMERULOSCLEROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_SEGMENTAL_GLOMERULOSCLEROSIS	DAAM2	NPHS1	NPHS2	GAPVD1	NUP133	COQ8B	SEC61A1	MYO1E	MT-ND6	CD2AP	SLC12A3	TBC1D8B	MTX2	SMARCAL1	WT1	SGPL1	ANLN	INF2	G6PC1	WDR73	MT-TF	NUP107	NUP160	APOL1	SLC37A4	SCARB2	TRPC6	EMP2	MT-TS2	PTPRO	MAGI2	LMX1B	NUP37	NUP85	GON7	NUP205	CRB2	NUP93	MT-TW	MT-CO3	ACTN4	PLCE1	KIRREL1	MT-CO2	MT-TH	PAX2	COQ6	ARHGAP24	JAG1	ARHGDIA	MT-TL1	MT-CO1	ANKFY1	CLCN5	MT-ND1	MT-ND4	COL4A3	REN	CLCNKB	MT-ND5	VPS33A	MT-TQ	ITGA3	NARS2
HP_TALL_STATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TALL_STATURE	RERE	PIGG	TGFB3	POF1B	TGFBR1	NTNG2	ZMIZ1	PYROXD1	EED	ABAT	PLOD1	LRP4	TRMT1	CDKN2B	MAT2A	KANSL1	TXNRD2	CDKN1C	GPC3	COL6A1	KDM4B	AIP	HRAS	EZH2	PSMD12	KCNQ1OT1	COL6A2	MED13	DOCK3	IGF2	FBN2	TYMP	STAR	MED27	CLCN3	FAM20A	NELFA	CDKN1A	TGFB1	KBTBD13	GPC4	AR	LETM1	KRAS	FIBP	LOX	DLG4	NRAS	LARS2	ZNF469	HSPG2	NSD2	NSDHL	PTEN	WRN	TGFBR2	ACTL6B	GRIA3	FKBP14	TNRC6B	SUZ12	PPARG	COL1A2	CBS	GPR101	EMC10	DPYSL5	SMAD3	NSD1	TPM2	MFAP5	TANC2	CAVIN1	PTPN23	NONO	FGF3	TRIP12	HPGD	DICER1	DIS3L2	DDX6	BCAS3	SETD2	SRY	CPLX1	BSCL2	MADD	MAPK8IP3	STRADA	EFEMP2	KCNMA1	AGPAT2	SHANK3	PALS1	NNT	ATP6V1E1	KMT2C	SMS	DSE	FBXW11	WDFY3	COL6A3	ACTL6A	TGFB2	TCF20	NPR3	PDGFRB	MC2R	BPTF	FBN1	PIK3CA	MED12	HERC1	UPF3B	SOST	LHCGR	POR	ZDHHC9	TIMM50	FBLN5	PRKAR1A	SARS1	TUBB4A	BCORL1	RLIM	ESR1	SUFU	NPR2	MYH11	PAFAH1B1	TPM3	EHMT1	CCDC32	AKT1	MYT1L	ACTA1	HS2ST1	ANKRD17	TRIM32	RTL1	APC2	DNMT3A	POLG	SRCAP	NEB	CHD8	SATB1	ELN	NFIX	CNOT1	SLC12A2	FARSB	MYPN	HTT	UBR7	MC4R	KMT2E	PRKG1	CAV1	RNF135	ACTA2	COL2A1	GRIA4	PIGL	HPDL	KIF7	CDKN1B	MEG3	HNRNPK	CHST14	MAN2B1	FGFR3	CTBP1	ATP6V1A	MRAP	LMBRD2	MTM1	TCF7L2	PUS7	MEN1	SVBP	FOS	SYNCRIP	NF1	KLHL41	CCND1	SMAD4	DNA2	SLC6A8	GLI3	NKAP	AGO2	SMAD2	PTCH1	ASXL3	RNF2	WASF1	FOXE3	KCNQ1	NTNG1	POLR3A	MYLK	SPTBN1	PIGA	CNOT3	DLK1	HUWE1	CYP19A1	C1R	HEY2	CDKN2C	KAT8	SETD1A	AGGF1	TRAPPC4	YWHAE	RET	JARID2
HP_GLOMERULONEPHRITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLOMERULONEPHRITIS	C4A	NPHS1	NPHS2	GAPVD1	FASLG	CD81	COQ8B	CTLA4	FCGR2A	FAS	TBC1D8B	CFHR5	CFI	EMP2	LAGE3	TRIM8	CD2AP	MME	PRKCD	DGKE	ZAP70	FOXP3	LMX1B	NUP107	SOX18	DNASE1	APOL1	NUP133	FCGR2B	COPA	RASGRP1	SMARCAL1	C1QB	JAK1	LMNB2	COL4A3	ALMS1	PTPRO	MAGI2	NUP37	NUP205	NUP93	SOCS1	TREX1	NUP85	ACTN4	PGM3	ZNFX1	KIRREL1	WT1	PAX2	PTPN22	PLCE1	ARHGAP24	SLC37A4	CRB2	MMP1	ARHGDIA	CASP10	C1QA	TRPC6	ANLN	ANKFY1	MYO1E	SLC7A7	COL7A1	INF2	WDR19	C1QC	C3	NUP160
HP_NEPHROTIC_SYNDROME	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEPHROTIC_SYNDROME	FN1	MYO1E	IL7R	GSN	ARHGDIA	VAMP7	TRIM32	TRIM8	RAG2	NPHS1	ZFPM2	NLRP3	WT1	NR0B1	BBS12	MEFV	DCLRE1C	GATA4	IL2RG	IFT172	SOX9	SNAP29	NUP133	MAP3K1	BBS4	BBS1	TRPC6	LAGE3	VPS33A	NR5A1	LZTFL1	PDSS2	ALG1	SDCCAG8	TP53RK	BBS9	GATA3	C1QBP	RAG1	IFT27	PLCE1	KIRREL1	LYZ	NOS1AP	CASP10	SPP1	PTPRO	KANK2	WDR4	CHD7	COL4A3	TPRKB	BBS5	TBC1D8B	MKKS	IFT74	COQ2	NUP93	CEP290	NEXMIF	SCAPER	RASA1	WWOX	CEP19	IRAK1	MAGI2	BBS10	PMM2	PAX2	FOXP3	ITGA3	NUP107	STAT4	C3	DAAM2	MARS1	BBS7	CYBC1	OSGEP	SAA1	DMRT3	PUS3	ARL6	EMP2	SMARCAL1	CCND1	TBX18	MME	SGPL1	ANLN	PRKCD	BBIP1	DGKE	ZAP70	WDR73	LMX1B	NUP160	BBS2	CHST14	COQ8B	MKS1	SCARB2	JAK1	WDPCP	LMNB2	SLC35A2	CFAP418	AVIL	TTC8	NPHS2	SERPINA1	NUP85	CRB2	COL4A5	SLC17A5	APOA1	ZNFX1	DHX37	LAMB2	COQ6	B2M	IFIH1	ADA	NPHP1	ZNF592	LIG4	COL4A4	GLA	NUP205	RMRP	SRY	FGA
HP_POLYURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYURIA	ITPR3	CYP24A1	SARS2	CLDN16	MAGED2	LZTFL1	NPHP1	KCNJ1	NPHP3	BSND	SON	SLC12A1	PLVAP	ATP1A1	SLC5A2	NPHP4	SLC41A1	PTPN22	IL6	CLCNKB	SLC12A3	KCNJ5	CLDN10	HNF1A	TMEM67	AQP2	CASR	CLCNKA	FAM20A	SLC34A1	AVPR2	KCNJ10	CTNS
HP_RENAL_AGENESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_AGENESIS	CIT	ELN	GAS1	TMEM67	PROKR2	ALDH18A1	RTTN	GATA1	XRCC4	ASPM	FREM1	CDC42	GATA3	KCTD1	SCO2	SURF1	PIEZO2	TACR3	MBTPS2	FAM149B1	GREB1L	TFAP2A	RPL18	RPS17	RPS7	PRKAR1A	CTU2	PUF60	CEP63	CEP135	SDCCAG8	TBC1D24	RPS28	NODAL	NDNF	RPL35	FEZF1	FGF10	KNL1	STIL	CHD7	FANCB	KIF14	RPL5	CDK6	NADSYN1	HOXD13	SALL4	SH2B1	IDH1	RPS27	THOC6	NSD1	FANCE	FANCA	LRP4	RET	SEMA3E	PHGDH	PTPN11	VANGL1	FANCC	METTL5	SETD2	SEMA3A	RPS20	PPP2R1A	HS6ST1	PTCH1	RPL27	KNSTRN	TNXB	COPB2	EYA1	FGFR2	RPL35A	RPS10	ITGA8	SIX3	RPS26	WNT4	CPLANE1	CDON	TOPORS	INSL3	IL17RD	DUSP6	POR	HNF1B	FREM2	NDUFB8	FLRT3	FGFR3	SUFU	TRAPPC14	WDR62	RPS15A	GNB2	GDF6	ANOS1	MKS1	FGF8	DHCR7	SOX10	RPL26	NDUFAF3	NSDHL	ZIC3	DYRK1A	DISP1	STS	ANKRD17	PBX1	APC2	CCNQ	RPL15	TMEM216	DCC	CENPJ	FGF17	FGF20	OFD1	HESX1	TDGF1	LMBRD1	MCPH1	PIK3C2A	ZIC2	KIAA0753	FGFR1	FANCD2	TGIF1	KIF7	SRCAP	RPL11	SON	HS2ST1	CCDC141	TCTN3	FOXH1	MFSD2A	ERCC8	ATRX	GLI3	TAF13	RPS24	PYCR2	CEP152	PDE6D	TBX1	SIX1	SASS6	ADA2	PPP2R3C	PIK3CD	WNT9B	RPS19	COG6	FBLN5	DHCR24	TP63	ATN1	FUZ	ZMYM2	RPL31	GLI2	PHC1	NDUFS2	SF3B4	PROK2	ERCC6	SHH	RPS29	CDK5RAP2	DLL1	SPRY4	TSR2	WBP11	WNT3	ANKLE2	NCAPD3	WDR11
HP_ENLARGED_KIDNEY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_KIDNEY	CPT2	GPC4	CD81	GANAB	PKD2	BICC1	INVS	SAA1	SLC37A4	FIBP	DYNC2H1	PIK3CA	FANCB	ZIC3	ALG9	CDKN1C	GPC3	FAH	G6PC1	INSR	ANKS6	PKHD1	KCNQ1OT1	NEK8	IGF2	NPHP3	VPS33A	CILK1	DNAJB11	KCNQ1	BMPER	WT1	DZIP1L	PKD1	SLC29A3
HP_RENAL_CYST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_CYST	AKR1D1	RERE	B9D1	MLXIPL	OFD1	STK11	COMT	TMEM67	KLF11	HDAC8	LZTFL1	COL4A1	TMEM216	SKIV2L	ABCC8	ETFDH	CDKN1C	GPC3	ESCO2	INPP5E	PRKCSH	TKT	FLNB	BBS4	MCTP2	MYH11	GATA3	IFT172	GTF2I	CEP120	MT-CYB	PEX3	NCF1	KCNQ1OT1	ROR2	PIEZO2	IGF2	MBTPS2	LAMA3	TCTN2	HNF4A	LIMK1	TSC2	PAX4	EIF4H	HDAC4	CC2D2A	TFAP2A	DZIP1L	AMER1	CEP290	LMOD1	SDCCAG8	TBX1	GPC4	HSD17B4	BBS9	IFT27	TBC1D24	PRKCZ	NPHP1	FIBP	DYNC2H1	SPOP	CSPP1	TSC1	PEX13	TMEM237	ZNF148	BBS5	ALG9	RAD51C	UBE4B	IFT74	ARVCF	SEC63	CEP19	HOXD13	NOTCH2	VHL	UFD1	JAM3	PEX1	SMC3	PIGT	BBS7	HIRA	NPHP3	KCNAB2	NEUROD1	FREM2	WDR35	BUB1B	LAMC2	XPNPEP3	SHANK3	ZEB2	BCL7B	ANKS6	PEX6	MKS1	OCRL	PEX19	PKD1	LAMB3	EYA1	MMP23B	IFT43	RPGRIP1L	PMM2	DYNC2I1	NIPBL	CD96	RMND1	LRP5	TTC37	PEX12	SETBP1	PDPN	IFT140	HNF1B	COQ2	PRDM16	BLK	PKHD1	APPL1	DACT1	RPGRIP1	PDX1	JAG1	IFNG	ACTG2	HNF1A	NXN	GREB1L	SEC24C	METTL27	BUB3	RNU4ATAC	TBL2	DHCR7	MUC1	NPHP4	CPT2	PAX2	PIGN	CEP57	MSH3	SNRPB	WNT3	TMEM231	DYRK1A	AKT1	ARL6IP6	PEX16	SMC1A	DCDC2	GANAB	B9D2	CDC73	HSPG2	SPEN	KAT6B	RAD21	PEX10	CHRM3	TRIM32	BBS12	GLI3	PEX11B	PKD2	RSPO2	TRRAP	ELN	KIAA0586	TMEM270	LIPT2	AP2S1	TMEM107	RFC2	BBS1	PAX1	DYNC2I2	FRAS1	TRIP11	PEX5	CRB2	ALG8	PEX26	FKBP6	INVS	TMEM138	MAPKBP1	CLPB	BRD4	BICC1	STX1A	GCK	SRCAP	GLIS3	BAZ1B	MKKS	TCTN3	ETFB	LHX1	CASZ1	SCAPER	MYLK	ARL3	BUD23	BBS10	TXNDC15	DNAJC30	TCTN1	BMPER	CCND1	NRIP1	JMJD1C	ZNF423	SEC61A1	FLI1	MPDU1	GTF2IRD2	PEX14	FLCN	SIX1	ARL6	SH2B1	TBX18	VPS37D	BBIP1	INS	NEK8	SALL1	PEX2	LUZP1	BBS2	KCNJ11	WDPCP	BUB1	PUF60	CFAP418	PTEN	TTC8	DNAJB11	KCNQ1	B4GAT1	TMEM260	TRIP13	B3GLCT	GABRD	SKI	PIGQ	IFT80	NEK1	RREB1	GRIP1	CLIP2	ETFA	TMEM218	GP1BB	GTF2IRD1	PDSS2	CEP55	PORCN	CEL	CWC27	SIX5	DHX16
HP_RENAL_CORTICOMEDULLARY_CYSTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_CORTICOMEDULLARY_CYSTS	CRB2	DCDC2	TMEM67	NPHP1	MUC1	NPHP4	XPNPEP3	NPHP3
HP_RENAL_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_DYSPLASIA	PNKP	PBX1	DMXL2	MBTPS2	FKTN	TRIM8	BNC2	TBX1	SIX1	NEUROD2	CASK	SCN1B	PLVAP	TBX18	GLI3	PIGQ	GATA3	KIAA0586	USP9X	SALL1	SCN2A	SCO2	SURF1	PIEZO2	ARX	FIBP	TP63	POMT1	EYA1	NPHP3	INTS1	COQ7	B4GAT1	ITGB4	RMND1	SDCCAG8	PIGN	IFT140	TTC8	KCNA1	PLEC	NDUFS2	SHANK3	BICC1	NDUFB8	DYNC2H1	CDKL5	ZNF148	JAG1	CSPP1	MYCN	FKRP	SON	GREB1L	SMO	CPLANE1	PIGP	POMT2	ITGA8	SIK1	NDUFAF3	PAX2	SLC25A22	SIX5	CEP55	GRM7	GNAO1	ZNF699	AMMECR1	ITGA6	PIGT	LARGE1
HP_NEPHROPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEPHROPATHY	MT-ND6	KLF11	UMOD	CPOX	TMEM237	WAS	VPS33B	COL4A1	CISD2	DYNC2I1	NLRP3	MYH9	HPRT1	ABCC8	TTC21B	INPP5E	ZNF423	COL4A6	SMARCAL1	HNF4A	PAX4	IFT172	WT1	MMACHC	LAGE3	MT-TS2	IFT140	CC2D2A	WFS1	CEP120	MT-TW	SLC5A2	TP53RK	PRDX1	NUP133	TTR	LYZ	MT-TH	GCK	MEFV	WDR19	WDR4	TPRKB	DYNC2H1	MAFB	COL4A5	MT-CO1	FAM20A	ADA2	CLDN19	WIPF1	MT-ND1	TMEM216	MT-ND5	PAFAH1B1	TREX1	HIC1	NUP107	SEC61A1	DYNC2LI1	RPGRIP1L	OSGEP	SAA1	SLC26A4	CEP290	CCND1	NEUROD1	NOD2	VIPAS39	INS	MT-TF	PRODH	SLC2A2	KCNJ11	SCARB2	DYNC2I2	SCNN1B	PAX6	TMEM231	MT-CO3	TMEM138	APOA1	KCNJ10	FOXI1	SCNN1A	NPHP1	MT-CO2	SCNN1G	IFT80	BLK	B2M	APPL1	PDX1	YWHAE	HNF1A	WDR73	MT-TL1	GLA	MT-ND4	TMEM67	MT-TQ	CEL	FGA
HP_POLYCYSTIC_KIDNEY_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYCYSTIC_KIDNEY_DYSPLASIA	ZNF423	CDC73	COMT	TSC1	HIRA	SIX1	SKIV2L	ETFDH	ESCO2	PKD2	SHANK3	GATA3	ANKS6	TBX1	PKHD1	DZIP1L	TMEM107	PKD1	ALG9	EYA1	IFT43	TRIP11	CPT2	TTC37	GANAB	OFD1	PEX12	DYNC2H1	SRCAP	PEX5	GLIS3	TSC2	ETFB	NEK1	MKS1	ARVCF	SEC24C	RREB1	ETFA	TMEM218	WDR35	GP1BB	MKKS	UFD1	NPHP3	TMEM231	JMJD1C
HP_PROXIMAL_TUBULOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_TUBULOPATHY	NDUFB3	NDUFA1	MT-ND6	NDUFB9	CLCN5	SLC34A1	NDUFAF5	NDUFS8	RRM2B	NDUFS3	ETFDH	NDUFAF4	NDUFB11	NDUFV1	MT-TF	CTNS	COG6	FOXRED1	NDUFA11	MT-ND3	NDUFS2	MT-TS2	NDUFS4	PMM2	NDUFB10	MT-TW	MT-CO3	NDUFS7	NDUFV2	NDUFA6	MT-CO2	MT-TH	TMEM126B	ALDOB	NDUFS6	MT-ND1	HBB	OCRL	ETFB	MT-TL1	MT-CO1	NDUFAF1	TIMMDC1	ETFA	NDUFAF2	LRP2	NDUFAF8	MT-ND4	MT-ND5	NDUFAF3	MT-TQ	NDUFS1	NUBPL	MT-ND2
HP_RENAL_PHOSPHATE_WASTING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_PHOSPHATE_WASTING	SLC34A1	NDUFAF6	DMP1	PHEX	CTNS	CLCN5	SLC34A3	ENPP1	FGF23	INPPL1	GNAS	EHHADH	GATM	SLC9A3R1
HP_NEPHROCALCINOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEPHROCALCINOSIS	AIRE	CDC73	AGXT	MLXIPL	ADAT3	VPS33B	SLC12A1	SRCAP	CDKN1C	FAH	ELN	ENPP1	INSR	TMEM270	GTF2I	TBC1D24	ABCC6	NCF1	KCNQ1OT1	RFC2	HOGA1	BTNL2	IGF2	LIMK1	HNF4A	EIF4H	FGF23	TOR1A	FAM20A	CLCN5	GRHPR	TTC26	GATA3	CYP24A1	FKBP6	GCM2	CLPB	STX1A	KCNJ1	MEFV	GALNT3	BAZ1B	OCRL	CLCNKB	SLC4A1	ALPL	BUD23	STRADA	ATP6V0A4	DNAJC30	DYNC2I2	SLC34A1	PIGT	HSD11B2	GTF2IRD2	CLDN16	MAGED2	SLC37A4	FUT8	CASR	SBDS	STX3	VPS37D	MEN1	VIPAS39	BCL7B	SLC2A2	TRNT1	DNAJC21	COL4A3	PIK3C2A	SLC34A3	BSND	KCNQ1	SRP54	GNA11	PEX3	MYO5B	PTH1R	METTL27	TBL2	CLIP2	CLDN19	GTF2IRD1	HLA-DRB1	ZNF687	AMMECR1	CLCNKA	ATP6V1B2
HP_UNILATERAL_RENAL_AGENESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNILATERAL_RENAL_AGENESIS	ANKRD17	PBX1	ELN	TMEM67	PTPN11	PROKR2	ALDH18A1	PYCR2	CEP152	TBX1	RTTN	METTL5	XRCC4	ASPM	DYRK1A	FREM1	CDC42	SASS6	GATA3	PPP2R1A	PPP2R3C	CENPJ	PIK3CD	COG6	CIT	FBLN5	MBTPS2	KNSTRN	TNXB	COPB2	ANOS1	LMBRD1	MCPH1	PRKAR1A	CTU2	WNT4	PUF60	CEP63	CEP135	PHC1	POR	SF3B4	TRAPPC14	WDR62	SON	ERCC6	GNB2	GDF6	KIF14	CDK5RAP2	KNL1	WBP11	HNF1B	STIL	THOC6	HS2ST1	CDK6	NADSYN1	ANKLE2	DHCR7	MFSD2A	NCAPD3	IDH1	STS	ERCC8	GLI3	TAF13
HP_NEPHRITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEPHRITIS	C4A	NPHS1	GAPVD1	FASLG	ALMS1	GANAB	ELN	CTLA4	EFEMP2	FCGR2A	UMOD	ALDH18A1	TBC1D8B	BNC2	TRIM8	CD2AP	PLG	MYH9	PRKCD	FOXP3	NUP133	KCTD1	FCGR2B	COPA	RASGRP1	SMARCAL1	EMP2	MAGI2	LMX1B	MED12	NUP93	NUP85	PGM3	PKD2	FBLN5	KIRREL1	WT1	CASP10	SPP1	PAX2	COL4A3	ALG9	NUP107	MYCN	MMP1	C1QA	HMOX1	MYO1E	COL7A1	IRAK1	WDR19	VPS33A	LTBP1	STAT4	C3	NPHS2	CD81	BICC1	COQ8B	FAS	CFHR5	CFI	LAGE3	MME	DGKE	ZAP70	XDH	HOXA13	SOX18	DNASE1	APOL1	C1QB	JAK1	LMNB2	PTPRO	DNAJB11	NUP37	NUP205	SOCS1	COL4A5	TREX1	ACTN4	CD151	MYH11	ZNFX1	SHANK3	PTPN22	PLCE1	ARHGAP24	SLC37A4	CRB2	ARHGDIA	TRPC6	ANLN	COL4A4	ANKFY1	SLC7A7	INF2	C1QC	PKD1	NUP160	DNASE1L3
HP_RENAL_TUBULAR_DYSFUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_TUBULAR_DYSFUNCTION	EPG5	CAD	NDUFB3	NDUFA1	MT-ND6	VPS33B	NDUFB9	SLC34A1	NDUFAF5	PDX1	STAT3	NDUFS3	ETFDH	FBXL4	NDUFAF4	GNAS	FAH	INS	NDUFB11	NDUFV1	KYNU	CTNS	SCO2	FOXRED1	SURF1	COA8	MT-ND3	PC	SLC4A4	MT-TS2	PEX19	HNF1B	NDUFS4	CLCN5	MT-TW	BCS1L	SLC5A2	GATA3	NDUFS7	SLC2A2	GCK	MT-TH	ALDOB	KCNJ2	NDUFS6	HBB	CPT1A	OCRL	ETFB	PHKB	MT-CO1	NDUFAF1	SLC4A1	NDUFAF2	LRP2	NDUFAF8	MT-ND1	CLCNKB	MT-ND5	ATP6V0A4	NDUFAF3	NDUFS1	PHKG2	MT-TN	NADK2	MT-ND2	ABCC8	CLDN16	CA2	MMUT	SLC12A3	SLC34A3	NOTCH2	NDUFS8	RRM2B	GATM	FN1	VIPAS39	EHHADH	TAOK1	KCNJ5	MT-TF	COG6	NDUFA11	ATP6V1B1	NDUFS2	PMM2	NDUFB10	MT-CO3	RMND1	UQCC2	NDUFV2	PHEX	NDUFA6	PHKA2	MT-CO2	NDUFB8	TMEM126B	COQ2	JAG1	ATP7B	MT-TL1	NDUFAF6	TIMMDC1	ETFA	HNF4A	MT-ND4	KCNJ11	PDSS2	MT-TQ	NUBPL	PIGA
HP_PELVIC_KIDNEY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PELVIC_KIDNEY	ZMYM2	PUF60	SLX4	WAC	MLXIPL	GTF2IRD2	FKBP6	ELN	STX1A	RTTN	FANCD2	GNB2	FGFR1	VPS37D	BAZ1B	FANCF	STRA6	ZEB2	BCL7B	TMEM270	GTF2I	CCNQ	NCF1	METTL27	TBL2	CLIP2	RFC2	BUD23	GTF2IRD1	LIMK1	DDX6	EIF4H	DYRK1A	DNAJC30
HP_RENAL_SALT_WASTING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_SALT_WASTING	SCNN1B	SARS2	CYP11A1	CYP11B2	KCNJ1	SCNN1A	SCNN1G	BSND	SLC12A1	HSD3B2	TXNRD2	NR0B1	CLCNKB	NNT	MC2R	KCNJ16	MUC1	CLCNKA	CYP11B1	KCNJ10	MRAP	CYP21A2	STAR
HP_RENAL_POTASSIUM_WASTING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_POTASSIUM_WASTING	SLC12A1	SLC12A3	ATP1A1	KCNJ10	CLCNKB	KCNJ1
HP_ABNORMALITY_OF_THE_UTERUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_UTERUS	STK11	AR	COMT	SRY	BMP15	HDAC8	TLR2	RAD51	RIPK4	FGF17	POLE	COX7B	FH	RBM8A	MNX1	GATA3	SLC6A17	FANCC	CTBP1	FOXL2	DCAF17	SPRY4	CDH1	WT1	MSH6	DHH	NUP107	FANCF	ERCC4	TBX1	INTU	AKT1	FANCD2	LRP2	MLH3	TBX3	BUB1	MCC	NR5A1	LARS2	AXIN1	CHD7	PTEN	ARVCF	TGFBR2	WDR11	ESCO2	FLCN	FGFR1	FGFR3	UFD1	FANCL	COL5A2	BMPR1A	SMAD3	FRAS1	THOC6	CCND1	DUSP6	AURKA	SMC3	TP63	MID1	DACT1	PHGDH	BUB1B	GNRHR	SDHD	CYP17A1	CTNNB1	HIRA	MSH2	BNC1	PALB2	MYRF	RARB	FREM2	RPS20	SDHC	AXIN2	MAD2L2	SF3B4	FANCA	PPP2R1A	HYLS1	PMS2	NDP	FANCG	FGF10	WNT7A	TNXB	SEMA4A	ESR1	PAX6	DYNC2I1	PLG	NSMF	PSMC3IP	DLC1	HNF1B	GNB2	COL3A1	CLPP	FLI1	ARID1B	SRC	PROKR2	GREB1L	MKS1	SEC24C	NAB2	FSHR	DHCR7	NSD2	CREBBP	PPP1R12A	PIGN	MRPS22	RPS6KA3	MSH3	FANCB	FANCI	SMC1A	USF3	GREM1	FANCM	NRAS	SEC23B	CDC73	PIK3CA	CCNQ	SPIDR	SOX9	TACR3	CPLX1	FGFRL1	RAD21	CHRM3	HCCS	POLD1	NIPBL	BAX	BRIP1	POLR3H	COL4A6	FOXF1	BRAF	CYP11B1	C14orf39	DYNC2I2	KISS1	DHX37	PTPRJ	SLX4	COL1A1	BMPR1B	TP53	BRD4	FIGLA	NDUFB11	ADH5	ERAL1	FGF8	PLA2G2A	COL4A5	DCC	ITGA8	KLLN	HS6ST1	GNRH1	CYP11A1	RAD51C	FANCE	EP300	GLI3	KISS1R	PDGFRL	MINPP1	JMJD1C	STAT6	MLH1	PROK2	NIN	PTPN12	IRF6	UBE2T	APC	FGFR2	LETM1	STRA6	SALL1	HOXA13	NTHL1	RAD54B	TGFBR1	ALG9	CHEK2	WNT4	COL5A1	CXCR4	TAC3	B3GLCT	CYB5A	SETBP1	RFWD3	SOHLH1	IFT80	BRCA2	XRCC2	SDHB	DYNC2H1	TOE1	RREB1	GRIP1	CDKN1B	GP1BB	BRCA1	SPECC1L	WDR35
HP_MENORRHAGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MENORRHAGIA	HPS5	VWF	BLOC1S3	NBEAL2	ITGB3	F10	SLC37A4	GP1BB	F7	ITGA2B	PRLR	FLI1	MYH9	F5	F11	F2	GP1BA	BLOC1S5	MCFD2	GP9	GP6	F13A1	SLFN14	F8	PRKACG	SERPINE1	HPS4	PLAU	LMAN1	F13B
HP_GONADAL_DYSGENESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GONADAL_DYSGENESIS	MPLKIP	DHH	WT1	BMP15	PSMC3IP	RXYLT1	GTF2H5	DMRT3	TARS1	DHX37	HSD17B4	BNC1	VAMP7	SPIDR	SRY	NUP107	ZFPM2	NR5A1	NR0B1	RNF113A	GATA4	SOX9	GTF2E2	FSHR	TOE1	POLR3H	WWOX	MAP3K1	ERCC2	PPP1R12A	MRPS22	ERCC3	MINPP1	TWNK
HP_FEMALE_HYPOGONADISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEMALE_HYPOGONADISM	GNRHR	AIRE	KISS1	PROK2	TAC3	NSMF	CDH23	TACR3	KISS1R	MEN1	BMP4	ZMPSTE24	FGF17	PROKR2	CHD7	FGF8	WDR11	HS6ST1	FGFR1	GNRH1	SPRY4	AIP	LMNA	PRLR	FSHB	ATM	DUSP6
HP_HYPOGONADISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOGONADISM	LMNA	PROM1	MECP2	OPA1	ALX4	LZTFL1	CDKN1C	CCDC28B	POLR3K	NDN	RAD51	STUB1	ABCD1	BMP15	RRAS	ITGB6	DNM1L	LEPR	KIZ	BBS4	PREPL	RIT1	GTF2I	NEK2	FANCC	SOX3	SNRPN	NCF1	PROP1	FOXL2	DCAF17	EIF4H	TP53	TGFB1	DNAL4	WFS1	FANCF	BAP1	SDCCAG8	ERCC4	IMPG1	FANCD2	ERCC2	IFT27	ALG1	GALK1	MT-TH	SMARCE1	POLR3A	ZMPSTE24	NDNF	BBS5	DCC	CHD7	IFT74	BRCC3	MT-CO1	SLC29A3	TRAF7	POMGNT1	CEP290	WT1	CEP19	PROK2	EIF2S3	MT-ND1	LRAT	FGFR1	POLR1C	BBS7	FANCL	SLC7A14	POLR3B	PCARE	DUSP6	REEP6	SEMA3E	LHB	GNRHR	CYP17A1	DHH	NTN1	HGSNAT	SOX2	ERCC1	SGPL1	CTNNB1	MRAS	LEP	MAD2L2	FANCA	ABCA4	BCL7B	MT-TF	HS6ST1	MYH3	SCP2	SLC3A1	SRY	FANCB	AMACR	ALMS1	RAB3GAP1	MKRN3	OTX2	PMM2	SPATA7	FGF17	POLD1	NSMF	MAGEL2	ARSL	PTCH2	PPM1B	MT-CO2	FLRT3	ATRX	PRDM16	TAC3	CRX	CLPP	POU1F1	MT-TL1	TERT	FGF8	METTL27	NPAP1	PDGFB	SOX10	BBS2	ARL6	RAB3GAP2	STS	FANCI	OCA2	GUCA1B	PIK3CA	GLI2	CNGB1	AIRE	DMPK	CERKL	TACR3	RP1L1	VAMP7	TRIM32	RERE	MRE11	GNAS	CISD2	PNPLA6	SOX9	ZFPM2	IFT172	NR0B1	ZNF408	LSS	CA4	VPS4A	ELN	SMCHD1	SIL1	FSHB	TWNK	ERCC8	RFC2	PDE6G	ERCC3	KRAS	LHX4	PROKR2	HJV	FKBP6	SPRED2	BMPR1B	HSD17B3	BMP4	IMPG2	RGR	ERCC5	AGBL5	CDHR1	HFE	MKKS	SCAPER	CDH23	RRM2B	POLA1	CCDC141	SPRY4	DMXL2	WWOX	BUD23	ANAPC1	OFD1	REV3L	ZBTB20	RAD51C	FANCE	PRCD	EYS	DNAJC30	CTDP1	PRPF8	KISS1R	RNU4ATAC	TFR2	SLC39A4	POLG	HDAC8	CNBP	BMP2	ARHGEF18	VPS37D	TUB	DHDDS	ARL2BP	PTDSS1	PHF6	HAMP	PDE6B	TP63	AIP	CFAP418	SNORD115-1	CHRNG	KISS1	CYB5A	ERCC6	AR	MDM2	BRCA2	XRCC2	PLXND1	CYP19A1	RNF216	SEMA4A	MT-ND4	SNORD116-1	RIN2	GJB2	BRCA1	PRPF31	PTPN11	WDR11	MLXIPL	MT-ND6	USH2A	PRPF3	SMAD4	BRAF	CPE	MGME1	DMRT1	IFT140	RAF1	NR2E3	RP2	LIMK1	RP1	CAMKMT	BBS12	PRKAR1A	LHCGR	LIG3	ANTXR1	MT-TW	IMPDH1	BBS9	IER3IP1	PRKCZ	NF2	SIX6	STEAP3	FEZF1	HBB	UBE4B	WRN	BCS1L	MAP3K1	NECTIN1	AHR	FOXA2	SMO	CUL4B	BBS1	HESX1	AKT1	IFT88	IDH3B	PTCH1	FAM161A	XPA	CBX2	LHX3	PALB2	KCNAB2	PDE6A	SEMA3A	SAMD9	KLHL7	DHX38	FANCG	MKS1	PCSK1	SMARCB1	SOS1	ROM1	MMP23B	RPE65	MT-CO3	RDH12	SUFU	IL17RD	PDPN	PRPF6	NRL	NR5A1	ANOS1	IDH3A	NRAS	SOS2	LAS1L	TYMP	GNRH1	TBL2	SRA1	PWAR1	XPC	TOPORS	SNRNP200	PDE4D	RASA2	FANCM	HSPG2	SPEN	AXL	ANK1	AHSG	DDB2	GATA4	TMEM270	USP7	SNAP29	BRIP1	RECQL4	PRLR	MT-TS2	RBP3	PHGDH	SLX4	SIM1	PRPH2	SAG	STX1A	MAK	KIAA1549	BAZ1B	FMR1	RPGR	ARL3	RHO	COQ2	CASZ1	INPP5K	BEST1	RRAS2	CNGA1	RBM28	TRAF3IP1	MT-ND5	MERTK	BBS10	ATM	LZTR1	GPR101	GTF2IRD2	DMRT3	ZNF513	GALT	HERC2	UBE2T	RP9	BBIP1	FSCN2	TTC8	MAP2K1	LUZP1	PWRN1	WDPCP	CLRN1	CTNS	POLE	PEX6	MEN1	DHX37	TULP1	RFWD3	GABRD	SKI	PRPF4	PEX1	CRB1	NPHP1	RLBP1	CLIP2	CBL	GTF2IRD1	MT-TQ	IGF1	MRPS7	AHI1
HP_BIFID_UTERUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIFID_UTERUS	PHGDH	HYLS1	SALL1	EP300	CREBBP	DACT1
HP_ABNORMALITY_OF_THE_OVARY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_OVARY	FSHR	WNT10A	FASLG	LMNA	MLXIPL	SUFU	POF1B	STK11	AR	SRY	BMP15	CCDC28B	FGF17	AKT1	LEPR	PRKCD	DHH	DMRT1	IFT172	GTF2I	SOX9	SOX3	BNC1	MT-CYB	NCF1	CEP164	FOXL2	RAD51D	DCAF17	LIMK1	SPRY4	WT1	NBN	FSHB	EIF4H	SDCCAG8	BBS9	IFT27	INSR	DICER1	GALK1	TTI2	ZMPSTE24	BBS5	NR5A1	LARS2	MLH1	BRCA1	CHD7	IFT74	CASP10	PHKB	XRCC2	WRN	RIN2	MAP3K1	CEP290	PPARG	WDR11	CEP19	FGFR1	GALT	PRKN	PTCH2	BBS1	DUSP6	PHKG2	TP63	EIF2B2	FGFR2	MID1	LHB	PALB2	CAVIN1	GNRHR	BBS7	RAD51	SDHD	CYP17A1	PTPN11	BRCA2	HSF2BP	EWSR1	SLC37A4	CBX2	POR	BSCL2	ARL6	SMAD4	SDHC	LEP	AGPAT2	CHEK2	BCL7B	PMS2	MKS1	PIK3CA	STOX1	LMNB2	HNF1A	ALMS1	NPHP4	PAX6	TP53	MRE11	PMM2	NPHP1	SETBP1	PALLD	PLG	NSMF	MCM8	PHKA2	PSMC3IP	EPCAM	OPCML	GGPS1	F7	SPRED1	NUP107	PRKAR1A	FLI1	PROKR2	ESR1	METTL27	MDM2	TBL2	PPP1R12A	MRPS22	MSH3	NDNF	ANAPC1	USF3	ZPR1	RELA	EIF2B1	AIRE	EIF2B4	SEC23B	ERBB2	SPIDR	TACR3	MYC	STAG3	VAMP7	TRIM32	RNF43	RAD51C	ZFPM2	NR0B1	BBS12	KEAP1	GNAS	ELN	DIAPH2	MLH3	GATA4	TMEM270	CDH1	FMR1	POLR3H	TWNK	MSX1	TGFBR2	RFC2	RABL3	BBS4	RASGRP1	C14orf39	PRLR	IDH1	INVS	LZTFL1	EIF2B5	CAV1	MSH2	CORIN	BRIP1	KRAS	PMS1	SETD2	FKBP6	CDH23	STX1A	OFD1	BMP4	FLT1	FIGLA	CDKN2A	PTEN	CTNNB1	BAZ1B	ATM	MKKS	ERAL1	FGF8	POLG2	BLM	SCAPER	WWOX	AARS2	KLLN	HS6ST1	BUD23	NPHP3	GNRH1	BBS10	DNAJC30	BARD1	POLG	WDR19	PROK2	GTF2IRD2	FAS	FOS	KISS1R	DMRT3	ZFTA	MSH6	LIPE	VPS37D	RCBTB1	BBIP1	PTCH1	BBS2	NTHL1	B4GALNT1	CYP11B1	WDPCP	AIP	CFAP418	ZFHX4	MMP2	TTC8	FAN1	WNT4	KISS1	ANTXR2	TAC3	CYB5A	MEN1	DHX37	HARS2	RAD50	MCM3AP	MMP14	COL25A1	IDH2	CYP19A1	SDHB	EIF2B3	ALG9	THOC6	TRAF3IP1	CLIP2	HFM1	GTF2IRD1	PLIN1	NOBOX	CIDEC	AKT2	IQCB1
HP_OVARIAN_CYST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVARIAN_CYST	FSHR	SEC23B	LMNA	MLXIPL	STK11	SRY	SOX9	INSR	AKT1	NR0B1	GNAS	ELN	DHH	DMRT1	TMEM270	GTF2I	SOX3	MT-CYB	NCF1	MSX1	RFC2	FOXL2	LIMK1	PRLR	EIF4H	CAV1	CORIN	SETD2	FKBP6	STX1A	OFD1	FLT1	PIK3CA	BAZ1B	ATM	PHKB	MAP3K1	PTEN	PPARG	KLLN	BUD23	DNAJC30	PHKG2	LHB	CAVIN1	SDHD	GTF2IRD2	CYP17A1	FOS	SLC37A4	CBX2	LIPE	POR	VPS37D	BSCL2	WT1	SDHC	NR5A1	AGPAT2	BCL7B	NTHL1	STOX1	CYP11B1	LMNB2	HNF1A	ALMS1	MMP2	ANTXR2	PHKA2	CYB5A	F7	MMP14	PRKAR1A	CYP19A1	ESR1	SDHB	DHX37	METTL27	TBL2	CLIP2	GTF2IRD1	PLIN1	MSH3	CIDEC	AKT2	USF3
HP_UTERINE_PROLAPSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UTERINE_PROLAPSE	RPS6KA3	COL5A2	COL1A1	SMAD3	COL3A1	COL5A1
HP_ABNORMALITY_OF_THE_MENSTRUAL_CYCLE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MENSTRUAL_CYCLE	POF1B	AR	LHX4	CDKN2B	NDN	STUB1	BMP15	LEPR	F2	SNRPN	PDE8B	FOXL2	MCM9	MYH9	DHH	CDKN1A	AIP	BAP1	NBEAL2	MSTO1	SMARCE1	ZMPSTE24	NDNF	NR5A1	CHD7	USP8	PHKB	TRAF7	NABP1	WT1	PROK2	FGFR1	GALT	SERPINE1	LMNA	LMAN1	DUSP6	PHKG2	F8	SMC3	PLAG1	LHB	CAVIN1	GNRHR	CYP17A1	PTPN11	HSF2BP	BNC1	CDH23	LEP	HS6ST1	PRKACG	CDON	ALMS1	MKRN3	OTX2	HPS5	FGF17	PRKACA	NSMF	MAGEL2	PSMC3IP	POR	ARMC5	FLRT3	DNM1L	TAC3	PRLR	SEMA3E	CLPP	FLI1	ESR1	TERT	FGF8	GP9	FGB	NPAP1	PDGFB	SOX10	GP1BA	SMC1A	OCA2	PIK3CA	EIF2B1	EIF2B4	SPIDR	TACR3	BCOR	STAG3	RAD21	VAMP7	ZFPM2	DCC	NR0B1	FGA	GNAS	DIAPH2	FSHB	F5	C14orf39	HPS4	FGG	PROKR2	DHX37	EIF2B5	PML	PLIN1	HJV	SLC25A13	BMPR1B	BRD4	HMGA2	ITGA2B	SRY	HFE	ERAL1	NR3C1	VWF	CCDC141	SPRY4	WWOX	CTDP1	GDF9	KISS1R	TFR2	PRKAR1A	POLG	BMP2	F10	LIPE	RCBTB1	H6PD	CYP11B1	SNORD115-1	WNT4	SLC29A3	KISS1	PAPSS2	BSCL2	CYB5A	PSMD12	HARS2	NPM1	GHR	FIP1L1	YARS1	MRPS22	HAMP	CYP19A1	WDR11	F13A1	RNF216	AGGF1	SNORD116-1	MCFD2	CAV1	CIDEC	AKT2	FMR1	SYCE1	HDAC8	STAT3	CPE	TKT	SOX9	IGF2	PSMB8	F13B	ANTXR1	GATA3	STAT5B	ERCC6	NF2	LARS2	FEZF1	WRN	PPARG	FOXA2	SMO	WAS	GP1BB	HESX1	AKT1	CDKN1C	TP63	TWNK	EIF2B2	SLC37A4	ERCC8	SEMA3A	AGPAT2	GP6	PCSK1	SMARCB1	FANCM	GPR161	NIN	BLOC1S3	SUFU	ITGB3	IL17RD	MCM8	PHKA2	F7	NUP107	BBS9	ANOS1	FSHR	GNRH1	SRA1	PWAR1	ZBTB16	ROBO1	WNT7A	PDE4D	HSD17B4	MSH5	AXL	PROP1	NIPBL	GATA4	RARA	BLOC1S5	POLR3H	BPTF	MAP3K1	SETD2	SIM1	FIGLA	CISD2	CDKN1B	POU1F1	POLG2	ITGA8	SLFN14	WIPF1	TBL1X	LIG4	GPR101	MEN1	PDE11A	ESR2	NUMA1	GLI2	FOS	DMRT3	ATP7B	HERC2	TRMT10A	SOX3	PWRN1	TBL1XR1	IRF2BP2	PEX6	PEX1	SOHLH1	F11	EIF2B3	CDKN2C	HFM1	SMCHD1	PLAU	NOBOX
HP_AMENORRHEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMENORRHEA	CYP17A1	POF1B	AR	SYCE1	PROKR2	BMP15	LHX4	HDAC8	CDKN2B	NDN	FGF17	CPE	LEPR	TKT	SOX9	SNRPN	TACR3	FOXL2	MCM9	SPRY4	FSHB	DHH	WT1	CDKN1A	ANTXR1	AIP	BAP1	GATA3	MSTO1	SMARCE1	ERCC6	NF2	NDNF	NR5A1	LARS2	FEZF1	CHD7	USP8	WRN	PSMC3IP	TRAF7	PPARG	WDR11	FOXA2	SMO	PROK2	FGFR1	GALT	CCDC141	HESX1	AKT1	DUSP6	SMC3	TP63	TWNK	EIF2B2	LHB	CAVIN1	GNRHR	HSF2BP	BNC1	CDH23	SEMA3A	LEP	AGPAT2	HS6ST1	CDON	PCSK1	SMARCB1	ESR1	GPR161	MKRN3	OTX2	NIN	SUFU	IL17RD	NSMF	MAGEL2	MCM8	POR	OCA2	FLRT3	TAC3	NUP107	SEMA3E	ANOS1	CLPP	TERT	FGF8	FSHR	GNRH1	NPAP1	PDGFB	SOX10	SRA1	MRPS22	PWAR1	SRY	SMC1A	ROBO1	WNT7A	PIK3CA	EIF2B1	EIF2B4	SPIDR	STAG3	HSD17B4	RAD21	VAMP7	AXL	PROP1	ZFPM2	DCC	NR0B1	NIPBL	DIAPH2	GATA4	POLR3H	BPTF	MAP3K1	C14orf39	PRLR	DHX37	EIF2B5	CAV1	HJV	BMPR1B	SIM1	BRD4	FIGLA	CISD2	HFE	CDKN1B	POU1F1	ERAL1	LMNA	POLG2	ITGA8	WWOX	TBL1X	LIG4	CTDP1	GDF9	KISS1R	TFR2	MEN1	POLG	BMP2	ESR2	GLI2	FOS	DMRT3	HERC2	RCBTB1	TRMT10A	SOX3	PWRN1	SNORD115-1	WNT4	SLC29A3	PEX6	KISS1	PAPSS2	BSCL2	CYB5A	PSMD12	HARS2	YARS1	PEX1	SOHLH1	HAMP	CYP19A1	EIF2B3	CDKN2C	HFM1	SNORD116-1	SMCHD1	NOBOX
HP_ABNORMAL_VAGINA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VAGINA_MORPHOLOGY	AR	POR	SRY	SOX9	LONP1	CHRM3	VAMP7	CCDC28B	ZFPM2	SALL4	NR0B1	FGFR2	FH	MAMLD1	FREM1	RSPO2	MNX1	GATA3	GATA4	IL17RA	DYNC2LI1	COL4A6	MAP3K1	CLEC7A	CYP11B1	SRD5A2	RIPK4	PAX3	WT1	DYNC2I2	NR5A1	FRAS1	UBR1	POLR1C	DHX37	MTM1	INTU	NR2F2	ARHGAP31	TP63	JAK3	DHH	COL3A1	IL17RC	COL4A5	KIF14	TCTN3	POLR1B	ITGA8	WWOX	MKKS	IL17F	CYP11A1	BBS1	DDB1	TCOF1	GLI3	KIF7	DACT1	STAT6	TBX3	SLC35A2	CYP17A1	DMRT3	RECQL4	IRF6	RELA	FREM2	ARL6	POLR1D	BUB1B	ZEB2	PPP2R1A	HYLS1	SALL1	HOXA13	CCNQ	SPINT2	BUB1	PAX6	WNT4	DYNC2I1	ZMYM2	TRIP13	CYB5A	IL10RB	B3GLCT	SMAD3	IFT80	DYNC2H1	WNT3	NAB2	BUB3	GRIP1	DHCR7	PPP1R12A	CEP57	TRAF3IP2	CAPN15	BCOR	WDR35	COL7A1
HP_DECREASED_FERTILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_FERTILITY	HYDIN	MEI1	TSPY1	ZMYND10	ARMC2	AR	SRY	DRC1	BMP15	CCDC40	FCGR2A	NDN	RAD51	STUB1	PMFBP1	BRAF	ERCC3	TERB1	DNAAF5	RNF212	SOX9	FANCC	SNRPN	DZIP1	DNAAF2	TTC12	GTF2H5	TACR3	FOXL2	CFTR	STRC	TRIP13	FANCF	QRICH2	CFAP298	ERCC4	FANCD2	PGR	AURKC	ODAD4	PPP2R3C	TBX3	LRRC56	GAS8	MNS1	NDNF	DNAH10	HSD3B2	GCM2	RSPH1	CDC14A	DNAAF3	FEZF1	WRN	DNAI1	OFD1	FOXA2	WT1	DAZ1	GALT	CATSPER2	DAZ4	FANCL	CCDC141	SOHLH1	DAZ2	GBA2	NSD1	HESX1	FANCA	SPEF2	AMH	BRDT	DNAH1	DNAAF1	DUSP6	PANX1	DNAH8	CYP17A1	HLA-DQA1	HSF2BP	RSPH3	BNC1	MCIDAS	PALB2	SETD2	BSCL2	SEMA3A	XRCC2	MAD2L2	AGPAT2	HS6ST1	CFAP300	FANCG	CHD7	RSPH9	ALMS1	CFAP65	NANOS1	MKRN3	DDX3Y	OTX2	DNAAF6	HSD17B3	FGF17	TEX14	LHCGR	MEIOB	IL17RD	MAGEL2	ODAD3	PSMC3IP	POR	OCA2	SLC34A2	TTC29	GGPS1	FLRT3	SYCP2	SLC26A8	PRLR	RAF1	NUP107	SEMA3E	ANOS1	PRKAR1A	TSGA10	GAS2L2	FSIP2	OBSL1	DNAJB13	FGF8	FSHR	GNRH1	NPAP1	NR5A1	SOX10	SRA1	CATSPER1	MRPS22	FANCB	PWAR1	FANCI	CFAP58	CCNO	TUBB8	TGFB1	FANCM	APC2	GNRHR	CUL7	PATL2	M1AP	CHRM3	VAMP7	SPIDR	AXL	CATIP	DNAH5	DNAH9	PROP1	ZFPM2	DCC	DNAAF4	NR0B1	TEX11	CCDC39	GNAS	STK36	GATA4	DNAAF11	BRIP1	FSHB	POLR3H	SPAG1	ODAD1	MAP3K1	DNAL1	CFAP251	LHX4	SRD5A2	PNPLA6	RBMY1A1	PROKR2	FOXJ1	SLX4	HJV	AMHR2	SIM1	CDH23	DNAI2	MPLKIP	PTPN11	RPGR	RSPH4A	AK7	FGFR1	FIGLA	POU1F1	DHH	NR3C1	TLE6	CCDC65	WDR11	BLM	WEE2	SPRY4	WWOX	CFAP70	CFAP47	IFT74	PADI6	CFAP43	CEP112	CYP11A1	RAD51C	FANCE	ZP1	C14orf39	GLI2	ASTL	DMRT3	ACTL9	CLDN2	PLCZ1	HERC2	UBE2T	REC114	H6PD	MAP2K1	PNLDC1	CCDC103	SOX3	C11orf80	DAZ3	LMNA	SUN5	PWRN1	CCDC8	STAG3	AIP	KLHL10	ODAD2	SNORD115-1	SPAG17	CFAP52	CTNS	HLA-DQB1	NEK10	HFE	ADGRG2	CYB5A	MEN1	DHX37	TERB2	PROK2	RFWD3	SPATA16	ZP2	USP9Y	CYP19A1	DNAH2	BRCA2	CEP19	RNF216	DNAH11	CFAP44	SNORD116-1	NME8	PLIN1	SEPTIN12	BRCA1	CFAP221	ZP3	DNAH17	BTG4
HP_VAGINAL_ATRESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VAGINAL_ATRESIA	WNT3	KIF14	GRIP1	DYNC2LI1	POR	ITGA8	FGFR2	MKKS	CCDC28B	FRAS1	WT1	FREM2	BBS1	ARL6	RSPO2	GATA3
HP_OVARIAN_GONADOBLASTOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVARIAN_GONADOBLASTOMA	GATA4	SOX9	WT1	WWOX	MAP3K1	DMRT3	DHX37	VAMP7	SRY	ZFPM2	NR0B1	NR5A1
HP_GONADOBLASTOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GONADOBLASTOMA	WT1	SRY	DMRT3	DHX37	VAMP7	MAP3K1	ZFPM2	NR0B1	DHH	CDKN1C	GATA4	SOX9	KCNQ1OT1	WWOX	IGF2	NR5A1	KCNQ1	PAX6
HP_APLASIA_OF_THE_UTERUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_UTERUS	PPP2R1A	GATA3	TOE1	CYP11A1	CYP17A1	AR	CTBP1	WNT7A	NSD2	CPLX1	FGFRL1	RBM8A	MYRF	ARID1B	DHX37	TP63	MINPP1	LETM1	WNT4
HP_WIDE_MOUTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDE_MOUTH	KDM6B	KAT5	UBE3A	MLXIPL	TMEM67	NALCN	FLCN	ARID2	ATIC	SRCAP	TWIST2	MTOR	MGAT2	SNRPN	GPC3	ABCC9	AP4B1	CDC42	GTF2I	ACTB	NCF1	LARP7	ROR2	CHD2	LIMK1	TRIP12	SOS1	EIF4H	KCNK4	ACTG1	POLR1C	AP2M1	EXOSC5	ZMIZ1	GPC4	SET	CENPF	ZNF148	KCNH1	SMARCA4	PACS1	BRPF1	IDUA	KAT6A	CUL4B	STRADA	HUWE1	DDB1	ZNF699	ADNP	ERLIN2	MED13	PACS2	TMEM70	NONO	SLC12A2	WAC	KATNB1	RALGAPA1	SOX4	SMARCB1	SMARCC2	POLR1D	WDR4	MED13L	WDR73	BCL7B	ARID1A	SYNGAP1	AP4S1	PPM1D	SLC2A1	AP4E1	PSPH	AP4M1	FAM20C	KCNN3	TASP1	CD96	ATP10A	HDAC6	SETBP1	SOX11	IFT140	AGA	SMARCE1	ATRX	NSUN2	ARID1B	GNB2	DACT1	RAF1	GLB1	PIGN	NXN	MKS1	NRXN1	METTL27	TBL2	MAPK1	ALG9	NEXMIF	AFF3	SPEN	DHCR7	ADAT3	GNS	INSR	GALNS	DPYD	TRRAP	SMARCA2	ELN	STAG1	PIK3CA	TMEM270	SLC6A1	RFC2	GATAD2B	NMNAT1	DPF2	QRICH1	ZSWIM6	SSR4	LIG4	HECW2	OFD1	TALDO1	OCA2	FKBP6	PIGB	STX1A	IRX5	TMCO1	RNF113A	PIGY	CDK19	SMARCD1	BAZ1B	SNIP1	RNF2	HS2ST1	POLR1B	BUD23	UBE2A	PMM2	DNAJC30	TCOF1	ACTL6B	UBE3B	GTF2IRD2	SEC23A	HNRNPH2	AUTS2	PIGL	VPS37D	KCNJ8	RAI1	MAP2K1	MED12	PTDSS1	TCF4	SETD1A	ASXL3	MBD5	SCN1A	SALL1	ADSL	PIGU	PGAP1	ANKRD11	KDM3B	B3GLCT	AP1S2	TTC37	SF3B4	DPYSL5	ZMYND11	SH3PXD2B	DDX11	CLIP2	GTF2IRD1	RPS6KA3	ATP6V1B2	KCNMA1	TRIO	KLHL15	ADAMTSL2
HP_ORAL_ULCER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORAL_ULCER	HLA-B	CD27	IL12A-AS1	EFL1	CYBC1	IL12A	PTPRC	TNFAIP3	CAT	SLC37A4	CCR1	ERAP1	IFNGR1	MEFV	SPP1	GFI1	IL7R	SRP54	RELA	CD40LG	SLC46A1	SBDS	IL23R	C4A	DNAJC21	TLR4	IRAK1	RIPK1	IL10	FAS	ADA2	NOD2	ELANE	MVK	DCLRE1C	STAT4	UBAC2	IL10RA	TCIRG1	KLRC4	SYK
HP_ABNORMALITY_OF_THE_TONGUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_TONGUE	RERE	FASLG	UBE3A	LMNB2	OFD1	SLC6A19	XPNPEP2	COL2A1	TBCK	GIPC1	EXOSC3	MGAT2	CDKN1C	GPC3	TRPV3	AGA	IL6ST	GTF2I	TBCD	CEP120	PEX3	NCF1	LMNB1	KCNQ1OT1	ROR2	KRT5	TSHR	EIF4H	FAM149B1	RUNX2	POLR1C	BAP1	SYT2	GPC4	INTU	PRRX1	PIGW	RBM10	LIFR	GRIK2	KRT6A	DDX59	COL11A2	FIBP	ACTB	DYNC2H1	SMARCE1	B9D1	ZMPSTE24	OTX2	ATP13A2	CASP10	ALS2	NEFL	TRAF7	NFIX	EDN1	ASAH1	FOXE1	TAF1	KY	CRKL	LAMA2	LMNA	NTRK1	SMN1	VCP	LARGE1	FRAS1	DVL3	TG	NEK1	FOXG1	PLAGL1	FDX2	ERLIN2	MID1	CAVIN1	SLC25A24	EHMT1	SDHD	HYMAI	SNX14	SH3TC2	SBF2	FREM2	SDHC	POLR1D	SGCG	MED13L	ALG3	BCL7B	B2M	ARID1A	MYH3	KIF1A	PEX6	SMARCA4	CHUK	FKRP	SPTBN1	HRAS	IYD	FAM20C	MMACHC	TMEM107	KCNN3	ECEL1	DYNC2I1	FLNA	RMND1	TOPORS	PEX12	FUCA1	IFT140	SOX5	MED25	ATRX	TELO2	NKX2-1	PRKAR1A	ALX3	NXN	POU1F1	SCN1A	GATA1	RAB3GAP1	NRXN1	TERT	POMT1	METTL27	PDGFB	AKT1	DHCR7	RAB3GAP2	MTPAP	DVL1	SNRPB	AMPD2	TUBB4A	FTO	PEX16	USF3	FIG4	PIK3CA	PTPN22	KIAA0753	ENG	IDS	HEXB	RSPO2	WDPCP	RTL1	POMGNT1	GLI3	ELN	SLC46A1	WNK1	WNT10A	PANK2	C2CD3	MAN2B1	POMT2	RFC2	TBX22	DNMT3B	FAM111A	RBBP8	SLC52A2	PRR12	GJB2	NKX2-5	PEX26	OCA2	FKBP6	PIGB	MYMK	SLC39A4	BMP4	HELLS	DUOX2	CRPPA	SNIP1	KCNK9	TGDS	VPS13B	POMK	TSHB	KRT14	KLLN	BUD23	PI4KA	REV3L	ALG6	DNAJC30	TCTN1	ATP1A2	TCOF1	NFASC	ABCC9	CLTRN	OPTN	SMN2	VPS13A	PEX14	KCNH1	FAS	MEG3	PTEN	RETREG1	VPS37D	THRA	WNT5A	FXR1	VWA1	ELP1	AIFM1	SLC26A4	SLC25A21	PEX1	GNAI3	TMEM67	CLIC2	MKS1	CHRNG	TSPYL1	ARSB	ADGRG1	BTK	BSCL2	CC2D2A	DLK1	COL11A1	PLXND1	HNRNPK	CPLANE1	GRIP1	AFF4	ATP6V1B2	KCNMA1	AMN	SNRPN	WDR35	MLXIPL	SPTLC1	ALG8	INPP5E	TMEM216	FRG1	AIP	PRKCD	HLA-B	MCTP2	SRPX2	ZBTB24	SLC5A5	NOP56	IGF2	LIMS2	TCTN2	LIMK1	GLB1	VPS33A	GSN	GNPTAB	PSMB8	TMEM231	VAC14	KAT6B	PROP1	CHCHD10	INSR	POP1	MBTPS2	CSPP1	NF2	TMEM237	IDUA	PPARG	SMO	CUL4B	KCNJ11	RNF125	ECM1	ZNF699	SOX9	GAA	ABCC8	PAX8	FZD2	RALGAPA1	MDM4	LHX4	LHX3	CEP290	AGPAT2	CSNK2B	EDNRA	PEX19	PIGS	SMARCB1	GMPPB	NOTCH2NLC	RPGRIP1L	PLCB4	GUSB	PTH1R	CACNA1A	COL7A1	SETBP1	SUFU	P4HA2	DUOXA2	RPGRIP1	SLC37A4	MAPK1	PTDSS1	TBL2	PRRT2	CDCA7	MT-TE	ZFP57	TRIM37	PQBP1	ADPRS	B9D2	SEC23B	AFF3	SCN9A	PEX11B	CCDC47	TRAF3IP2	LMBRD1	TMEM270	RASGRP1	RIPK4	PEX10	PEX13	DYNC2I2	CAV1	PEX5	PIK3C2A	MORC2	KDM5C	STX1A	NDUFS4	CCDC22	PRKAG2	KIF7	BAZ1B	MMP1	TCTN3	NEU1	SYNGAP1	HS2ST1	CUBN	POLR1B	TXNDC15	GPR101	BCR	GTF2IRD2	HLA-DRB1	FOS	PDE6D	UBA1	HESX1	PEX2	TPO	TBX15	POU4F1	IL36RN	SLC35C1	PKP1	KCNQ1	IPO8	AGTPBP1	IFT80	ACVRL1	SDHB	COG7	CLIP2	GTF2IRD1	SLC52A3	GJB6	SERPING1	PERP	TRMU
HP_MACROGLOSSIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACROGLOSSIA	MLXIPL	ATP6V1B2	TBCK	ROR2	ALG8	CDKN1C	GPC3	INPP5E	AGA	AIP	TSHB	IL6ST	GTF2I	ZBTB24	NCF1	SLC5A5	KCNQ1OT1	IGF2	LARGE1	LIMS2	LIMK1	TSHR	GLB1	EIF4H	VPS33A	GNPTAB	PSMB8	GPC4	PROP1	PIGW	INSR	POP1	FIBP	ACTB	NKX2-5	IDUA	PPARG	CUL4B	KCNJ11	FOXE1	LAMA2	RNF125	TG	FOXG1	PLAGL1	FDX2	ERLIN2	CAVIN1	EHMT1	GAA	SDHD	HYMAI	ABCC8	PAX8	SNX14	LHX4	LHX3	POMT2	SDHC	SGCG	AGPAT2	MED13L	ALG3	BCL7B	POU1F1	ARID1A	SMARCA4	PIGS	FKRP	HRAS	GMPPB	IYD	KCNN3	POMT1	GUSB	FUCA1	SETBP1	IFT140	ATRX	DUOXA2	NKX2-1	GATA1	METTL27	TBL2	AKT1	CDCA7	MT-TE	ZFP57	MAN2B1	AMPD2	PQBP1	FTO	USF3	RTL1	SEC23B	IDS	HEXB	SMARCB1	POMGNT1	ELN	CRPPA	CCDC47	TRAF3IP2	TMEM270	RFC2	UBE3A	DNMT3B	CAV1	PIK3C2A	FKBP6	STX1A	PRKAG2	HELLS	BAZ1B	DUOX2	SNIP1	MEG3	HNRNPK	POMK	HS2ST1	KLLN	BUD23	ALG6	DNAJC30	ABCC9	GPR101	GTF2IRD2	KCNH1	FOS	VPS37D	THRA	HESX1	DVL1	PTEN	DLK1	SLC26A4	TPO	PEX1	KCNQ1	IPO8	ARSB	PIK3CA	BSCL2	SDHB	CLIP2	WNT5A	AFF4	GTF2IRD1	KCNMA1	SNRPN	TRMU
HP_ABNORMAL_LIP_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LIP_MORPHOLOGY	KAT6A	TBCE	DDRGK1	NALCN	SHH	RTTN	CLCN4	HYLS1	RRAS	DPM2	RAC3	GPC3	CDC42	BCOR	HSPG2	TGIF1	EXT2	RAB11B	NECTIN1	CDH2	SOS1	MED27	HDAC4	EXOSC5	MAB21L1	PAH	FZD2	WNT10A	IRF6	PRMT7	WDR19	SRCAP	ALOXE3	CHRNG	MYCN	STIL	EMC10	PHF21A	LMNA	CDON	SIX1	TNNI2	EHMT1	TRIP12	MED25	DHODH	EDA	GMNN	NAA10	SMARCB1	MEG3	COLEC10	ATP6V1A	MED13L	SETBP1	KMT2C	PTCH1	CLCN3	ATP1A3	SLC2A1	AP4E1	YAP1	COPB2	DHX37	FBXW11	DDX6	TCF20	BRAF	KREMEN1	RAI1	NIPBL	SIX3	IFT81	TMEM94	NUAK2	SCYL2	ZNF711	RTL1	SMS	ARID1B	WDR35	SYT1	DISP1	RLIM	ZDHHC9	KCNN3	ALDH6A1	GALNT2	PTRH2	RAB3GAP2	FLT4	MYT1L	FIG4	OCA2	ZPR1	PKDCC	PBX1	SPEN	ADAT3	RSPO2	KAT6B	RAD21	PLAA	EEF1A2	GRHL3	INSR	FGFR2	LEMD3	RAB3GAP1	VPS13B	SNRPN	TBX1	EGFR	KCNH1	KRAS	LIG4	LHX4	FGF20	QRICH1	FRAS1	KIT	MCPH1	TENM3	ADAMTS3	MGP	VAX1	PAM16	NDN	FGF8	CDH1	PIGL	HPDL	CDK19	SMARCD1	DCPS	GLIS3	CSGALNACT1	GAS1	MICU1	MAGEL2	BUD23	WDR37	PMM2	DNAJC30	TFAP2A	RNU4ATAC	PUS7	SPATA5L1	FLI1	TWIST2	SYNCRIP	AASS	TUBGCP2	DEAF1	PHF8	CRLF1	TAPT1	AGO2	CCNQ	PPP1CB	FGFR1	EMC1	NOG	PIGT	SLC1A3	FRMD4A	TP63	DVL3	SPTBN1	KDM3B	CHST3	USP27X	PIGQ	PLXND1	HNRNPK	PAX3	KAT8	GLA	ZNF81	ANGPT1	AFF4	PYCR2	PIGK	POLR3GL	KDM6B	APC	SUPT16H	LBR	HDAC8	RALA	ATP6V1B2	FLNB	PURA	ATIC	IFT122	TGM1	KDM4B	AIP	SMOC1	SLC6A17	CTBP1	STAG2	CLEC7A	GLB1	ACTG1	NAGA	ZMIZ1	ALG12	TBC1D24	NEB	ZNF148	PTPRF	KRT6A	KNSTRN	SEMA3E	RIN2	CERT1	SCUBE3	TNRC6B	UFD1	CCBE1	RYR1	TMEM70	DIS3L2	TFAP2B	COL3A1	KCNAB2	PPP1R15B	FHL1	IREB2	DMD	GLI2	COG1	NUP107	EDNRA	SYNGAP1	OCRL	DSE	ACSL4	ACTL6A	ITGA8	UBR7	SETD5	MAP3K7	HGSNAT	MAPK1	MCM5	NRAS	MED12	MUSK	ALX4	PIGG	FOXC1	TRAF3IP2	LTBP4	MASP1	NODAL	HS2ST1	AFF3	CPLX1	PAX6	ESCO2	PQBP1	EDARADD	ANKRD11	BPTF	NEK9	PGAP3	EFTUD2	UGDH	CNOT3	KIFBP	SATB2	LRP6	MPC1	TAF1	BAZ1B	TCTN3	ARX	AP4S1	ERMARD	SIN3A	GPR101	ATP6V0A2	UBE3B	SEC23A	CTCF	ATP1A2	NBN	GLUL	TAOK1	CHST14	MED12L	C12orf57	ZNF292	ASXL3	UPF3B	ATN1	INTS1	RPS6KA3	MOCS2	SEC31A	NFIX	ADSL	ZMYM2	GJA5	FOXG1	SF3B4	NSD1	B3GLCT	TCTN2	TOE1	MDH1	IQSEC2	ODC1	CLIP2	GTF2IRD1	MID2	OTUD6B	SPECC1L	TRIO	GPC4	HCFC1	ADAMTSL2	PRKACB	CITED2	CDC6	FLCN	XPNPEP2	RPS7	PDHA1	HK1	KANSL1	ABCC9	AP4B1	NKX2-5	GTF2I	NKX2-6	ZNHIT3	AP2M1	ALG1	LETM1	MAN1B1	EYA1	FIBP	YY1	CAST	FOXH1	SMARCA4	WNT10B	FTSJ1	BRPF1	OBSL1	SALL4	MYO18B	PAFAH1B1	COLEC11	PTCH2	NEK1	ZSWIM6	SLC25A24	PACS2	TBCK	SMC1A	TDGF1	MAPK8IP3	MRAS	HNRNPU	LARP7	ZEB2	ARID1A	NDP	MYOD1	TRAF6	BRCA1	AP4M1	CACNA1A	MKRN3	OTX2	WDR26	TASP1	GJA1	ATRX	AUTS2	PIGV	PRDM16	POGZ	CHD7	KIF14	RAB18	MTOR	PIGN	JUP	HOXB1	NSD2	SLC45A1	CCDC32	FAT4	TBL1XR1	CAMTA1	ATP7A	FGD1	CAMK2G	RERE	KCNJ6	NSUN2	TRRAP	ALG13	USP9X	POMT2	ACTB	COX7B	SLC25A46	STEEP1	BUB1B	ELN	MYMK	SLC39A4	KCNJ2	SMARCC2	PGAP2	FOXP1	SDR9C7	PAX9	ABHD5	BLM	AP3B1	FRMPD4	TBC1D20	NONO	CDK10	KIF7	TCOF1	MRPS28	DLL3	EVC	CD96	CDKL5	COL11A1	CDT1	SMARCA2	SPOP	COL11A2	PLOD3	POMGNT1	MAF	SASS6	ADAM17	LMX1B	PIK3CD	WNT9B	CYP4F22	PTH1R	MSX1	CKAP2L	TRPS1	ZNF462	NEXMIF	FLNA	PIGO	SATB1	UBE2A	DYNC2H1	CPLANE1	PRKDC	NXN	AFF2	GATAD2B	NOTCH3	CIT	MLXIPL	SUFU	GDF11	ADAM22	ARID2	ROR2	ZBTB18	SMAD4	ASPM	CNOT1	MCTP2	ZNF41	PITX2	XYLT1	CYFIP2	VPS33A	PSMB8	HMGA2	VAC14	PUF60	ALOX12B	CEP135	IER3IP1	NF1	DLL1	UBE4B	IL17RC	SLC35A1	ARVCF	IDUA	SUZ12	FOXA2	HOXD13	NOTCH2	IL17F	ALX3	HUWE1	IDH1	CNKSR2	HESX1	AP1S2	TANC2	AP3D1	SOX4	BCAS3	FAR1	EP300	BMP2	CSNK2B	ERCC6	CHSY1	SHOC2	KDF1	GPC6	MMP23B	IFT43	PIK3CA	AGA	B3GALT6	HS6ST2	MEF2C	LAS1L	IFT57	ACER3	CHN1	PRKACA	DSC3	ADNP	FGFRL1	CUL7	CTNND1	IGF1R	RIPK4	CCNK	FBXL4	DPYD	KRT17	ZIC2	PPP2R5D	DPF2	OFD1	PROP1	RNF135	ZBTB20	SIM1	STX1A	SCARF2	CCDC22	ALG8	EFNB1	MEIS2	CUBN	NEU1	EVC2	KRT16	PIEZO2	MINPP1	JMJD1C	BCR	GTF2IRD2	MTX2	FOXC2	CCDC8	FBN1	NKAP	LUZP1	HES7	TRMT10A	SETD1A	MAP2K2	MID1	EZH2	SHMT2	GABRD	SKI	CDK5RAP2	IFT80	PPP1R21	WNT3	IDS	WDR4	ORC4	METTL23	EDA2R	JARID2	LARGE1	FKTN	NTNG2	UNC80	COL2A1	BRAT1	DLK1	SMG8	MGAT2	DOCK7	FREM1	RIT1	EIF4H	PIGW	GREB1L	KRT6B	TTC26	ERCC2	MYLPF	SLC2A10	TWIST1	EBF3	CC2D2A	RSPRY1	RAPSN	RPL10	BRCC3	PACS1	PTEN	CASK	STRADA	CRKL	PCLO	CILK1	MARS2	SC5D	SNAI2	DDX59	SMC3	ERLIN2	PTPN23	KATNB1	SNX14	ERCC1	FREM2	POLR1D	SHANK3	HRAS	KARS1	CHAMP1	DYNC2LI1	WDFY3	PDGFRB	MMACHC	DYNC2I1	FUCA1	PDE4D	WDR62	BCORL1	METTL27	TRAPPC4	NPAP1	DHCR7	TRIP11	PPP1R12A	TMCO1	KDM6A	PLG	BDNF	GLI3	FERMT1	IL17RA	DHX30	KMT2E	BMP1	RIPPLY2	CYP24A1	FKBP6	PIGB	BRD4	MECP2	RUNX2	KCNK9	B4GALT1	EPB41L1	GATA5	MSL3	MBTPS2	TCF7L2	PHIP	PEX26	CLCF1	BCL11B	GDF1	GNE	VPS37D	POC1A	KIF11	IARS2	GBA	PTDSS1	TCF4	TFE3	LIPN	SNORD115-1	PIGU	LRRC32	TRAPPC9	SLC29A3	NFIA	TUBB	MESD	YWHAE	IFIH1	ORC6	THOC6	KCNE5	KIAA0753	KCNJ11	LRP4	SUMO1	EXOSC2	PTPN11	PARS2	CANT1	ORC1	PROKR2	CLTC	MYL2	ABCA12	XRCC4	NOVA2	RAF1	CHD2	TGFA	ANTXR1	PRKCZ	VPS51	UGP2	DLX4	KNL1	FKRP	MESP2	TNPO2	PPP2R1A	CUL4B	EDEM3	EXOC7	DDX3X	ECM1	ADAMTSL1	RPGRIP1L	HIRA	METTL5	INPPL1	CBL	ATP6V1E1	PIGS	HDAC6	PDPN	DYRK1A	GJB2	TSPAN7	SOS2	SEC24C	ITCH	SLC9A7	PSMC3	CDC45	ANKRD17	MYH3	EXOSC1	POR	IL1RAPL1	GAD1	SREBF1	AVP	MAP2K1	TAB2	KMT2A	OCLN	TALDO1	CREBBP	POU1F1	FMR1	RNF2	SMO	MIR140	RRAS2	EIF2S3	MFSD2A	NLRP1	CRTAP	ARHGEF2	MPDU1	SVBP	PCGF2	YARS2	CEP152	KCNJ8	HERC2	DENND5A	SOX11	FGF3	ALG9	KNG1	MBD5	WASF1	SLC35C1	ALG11	EDAR	TTC37	PTCHD1	SON	EPG5	GRIA3	PYCR1	ACVRL1	RREB1	PERP	MOCS1	CYB5A	EXTL3	TMEM237	NCAPD3	SH3PXD2B	GJB6	OGT	DVL1	RET	TGFB3	COMT	TRMT1	DPM1	AMMECR1	KIDINS220	AXIN2	NCF1	LMNB1	DOCK3	FOXL2	FBXO11	KDM1A	RPS23	TOR1A	NELFA	POLR1C	AMER1	SET	CEP63	PREPL	GATA4	ARHGAP31	ZMPSTE24	ACTL6B	ATG7	MADD	SLC26A2	DPYSL5	ERF	PHGDH	WAC	CA2	EED	RHOBTB2	ACTA1	KCNMA1	ARHGEF6	BCL7B	SMG9	PPM1D	PUS1	MSX2	AGL	TSPEAR	SMARCE1	BRF1	SNRPB	AMPD2	CDK13	MAP1B	ENG	ASXL1	SLC46A1	CENPJ	SLC6A1	SLC12A2	RFC2	POMT1	LTBP3	DLG3	MYH8	PRDX1	SPRED2	SMPD4	IRX5	GRIA4	MAPRE2	ADGRG6	MCOLN1	XYLT2	RPS19	TGDS	CNTNAP1	RAB39B	REV3L	NBAS	HS3ST6	GNA14	ADARB1	DNMT3A	ABCD1	FLII	HNRNPH2	AGTR2	RBMX	WNT5A	KIF1A	SOX18	SETD1B	SCN1A	WNT4	NTNG1	CLIC2	PSMD12	GRIP1	ANKLE2	SRD5A3	GP1BB	PAK3	SNORD116-1	AMN	COG6	KAT5	VPS35L	TRIM8	MED13	GDI1	LIMK1	CNOT2	KCNK4	NFIB	GNPTAB	HSD17B4	FAM20C	TTI2	EXOC6B	KDR	GLI1	CDK6	CDH11	MYOF	KDM5B	TAF6	DDB1	ZNF699	CTNNB1	MEOX1	NIPAL4	SLC35A2	INTU	JAG1	RPL5	CACNA1C	PALS1	NANS	TET3	LFNG	CYP26C1	CLCN6	WT1	SYP	KIF15	TXNL4A	EXT1	ZNF407	STK11	STXBP1	TRAPPC14	GNB2	ABCC8	MKS1	PORCN	TBL2	NSDHL	PWAR1	AP1G1	MAFB	RIC1	EXOC2	RASA2	CHUK	DCHS1	GNS	LMBRD1	TMEM270	PPP2CA	NCAPG2	DYNC2I2	HTT	SUMF1	HECW2	B3GAT3	KDM5C	BCL11A	OPHN1	KLHL41	CLP1	CASZ1	ADAMTS2	POLR1B	ERCC5	LMBRD2	HIC1	LZTR1	ZFPM2	P4HTM	TAF13	TPM3	WARS2	CYB5R3	KCNJ5	KMT2D	PPP2R3C	BANF1	IFT52	PWRN1	SULT2B1	TBR1	PKP1	SSR4	ZC4H2	POLR3A	PHC1	CSNK2A1	GATA6	PIGY	LEMD2	COG7	EIF5A	CWC27
HP_NARROW_MOUTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_MOUTH	CANT1	ORC1	APC	SMAD4	NTNG2	COMT	SUPT16H	DONSON	ZMIZ1	ORC4	CDC6	AKT3	RTTN	TRMT1	AKT1	KDM4B	MYH3	HSPG2	CTCF	PAX3	EIF4A3	PSMD12	CHSY1	MED13	DOCK3	MAPK8IP3	PIEZO2	RYR1	FBXO11	ALDH18A1	MED27	CLCN3	COL11A2	POLR1C	ZMPSTE24	COL2A1	SATB2	TBX1	PRRX1	PRKCZ	DCHS1	MYLPF	DSE	MMP1	TWIST1	PTEN	CHRNG	OTX2	TRIP4	UBE4B	LMX1B	RPL10	SEMA3E	BRPF1	BMP2	ARVCF	TNNI2	ACTL6B	PHACTR1	LMNA	TNRC6B	FGFR2	EDN1	NOTCH2	KAT6A	UFD1	BBS7	EMC10	SH2B1	CRKL	HUWE1	CCBE1	DPYSL5	TAF6	RAB3GAP1	TANC2	TBX4	BPNT2	CHST3	SLC25A24	PTPN23	TRIP12	CA2	TP63	DDX6	B4GALT7	HIRA	RECQL4	BCAS3	MEG3	KCNAB2	CENPT	PPP1R15B	MADD	POLR1D	KCNMA1	NALCN	PALS1	COG1	CRLF1	MECP2	KARS1	SP7	FBXW11	WDFY3	ACTL6A	FAM20C	MYBPC1	PIK3R2	BPTF	MMP23B	POLR3A	CDC45	PLCB4	ATAD3A	TCF20	TXNL4A	SCN1A	FLNA	COL7A1	POLD1	PDPN	MED12	POR	STXBP1	SCYL2	FREM2	AUTS2	GSC	PRDM16	SMS	POGZ	CHD7	GNB2	TRMT5	MAPK1	MCM5	PIGN	BCORL1	RLIM	MUSK	SEC24C	DLK1	HIVEP2	CREBBP	PAFAH1B1	COL11A1	CCDC32	WNT3	CDK13	MYT1L	HS2ST1	CAMTA1	ANKRD17	RTL1	MAF	SRCAP	PIGF	NEB	SPEN	FAT4	RERE	SATB1	SPEG	RSPO2	TPM2	RIPK4	GMNN	SLC12A2	IARS2	PQBP1	SOX6	HTT	UBR7	KMT2E	LTBP3	B3GAT3	ADAMTS3	UBE3B	BIN1	ZBTB20	TUBB	GRIA4	HPDL	DCPS	TNNT3	GNAI3	COL3A1	RNF2	PIK3CA	SYNGAP1	FBN1	CHST14	CASZ1	POLR1B	TBC1D20	NONO	LMBRD2	ITGA3	TCOF1	SIN3A	TCF7L2	JMJD1C	PUS7	TLK2	BMPR1A	CLCF1	BCR	BCL11B	SVBP	PCGF2	MTX2	SYNCRIP	CDT1	CCND2	TTN	AGO2	LUZP1	IGF1R	GBA	PTCH1	MED12L	TRMT10A	SEPTIN9	OSGEP	DHCR24	WASF1	ATP6V0A2	NFIX	GJA1	NTNG1	NFIA	EP300	SPTBN1	PIGA	TTC37	CNOT3	SON	GABRD	SKI	MAPRE2	LEMD2	MDM2	ORC6	COG7	RREB1	KAT8	CEP57	SETD1A	EXTL3	GP1BB	TRAPPC4	YWHAE	JARID2	AMMECR1
HP_MEDIAN_CLEFT_LIP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEDIAN_CLEFT_LIP	PTCH1	OFD1	SHH	RIPK4	ZIC2	SIX3	TGIF1	STAG2	LHX4	STIL	CDON	ZSWIM6	GLI2	PROP1	FGF8	DDX59	FAM20C	DVL3	POU1F1	FOXH1	DLL1	FGFR1	GAS1	SMO	TCTN3	FOXA2	ALX3	NEK1	HESX1	SLC2A10	DISP1	NODAL	TDGF1	INTU	FZD2	WNT5A	HYLS1	SMC1A	GJA1	OTX2	NUAK2	PIGN	DVL1
HP_GLOSSOPTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLOSSOPTOSIS	FLNA	SOX9	RBM10	BTK	MYMK	RSPO2	COL11A2	COL2A1	PLCB4	COL11A1	GNAI3	POLR1D	EDN1	NFIX	TGDS	PEX16	EDNRA	POLR1B	AFF4	SNRPB	RUNX2	POLR1C	FIG4	TCOF1	NFASC	VAC14
HP_ABNORMALITY_OF_THE_DENTITION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_DENTITION	MSX1	ZEB2	TBCE	PYROXD1	SHH	DSPP	CLCN4	DPM2	GPC3	CDC42	BBS4	IL6ST	TCIRG1	BCOR	HSPG2	CHSY1	TGIF1	WNT10A	NECTIN1	SOS1	MED27	RUNX2	TGFB1	ZMPSTE24	ERCC3	EXOSC5	GTPBP2	KRAS	CTSK	ALOXE3	FGF10	TBCD	CTC1	TECPR2	DMP1	CCN2	TSC1	FGFR1	POLR1C	NHP2	EMC10	LMNA	CDON	ARV1	EHMT1	TRIP12	EDA	LAMC2	SMARCB1	STAT3	APC	SIN3B	ATP6V1A	NALCN	ATP1A2	SETBP1	KMT2C	PTCH1	ELANE	DHX37	LAMB3	FBXW11	LYST	SRP54	PIK3C2A	FAM20C	KREMEN1	RAI1	RTEL1	NFKBIA	TCF20	NIPBL	FLNA	EDARADD	SIX3	UBA5	DUSP6	NSMF	UROS	SOX5	BRF1	ZNF711	TARS1	TONSL	SMS	ARID1B	IGF2	WDR35	DISP1	RLIM	ZDHHC9	IRF6	FGF8	SOX10	RAB3GAP2	MYT1L	HBB	FIG4	ALMS1	AIRE	SPEN	ADAT3	LONP1	KAT6B	RAD21	GRHL3	DCC	LEMD3	GNAS	VPS13B	SNRPN	TBX1	KCNH1	LAMA3	FRAS1	ADAMTS3	OCA2	TERT	CDH1	PIGL	HPDL	CDK19	KRT17	RUSC2	DCAF17	SMARCD1	ROGDI	GAS1	ERCC6	MAGEL2	BUD23	TERC	DNAJC30	COL1A2	TFAP2A	ACTL6B	PUS7	LGI4	SNX10	SYNCRIP	TUBGCP2	DEAF1	CRLF1	AGO2	PPP1CB	RELT	HACD1	CBS	PIK3R1	PIGT	ERCC8	GNAI3	PITX2	TP63	CXCR4	KISS1	EP300	NTRK1	DVL3	SPTBN1	NECAP1	CLTC	CHST3	PROK2	MAPRE2	USP27X	PRDM5	C1R	PLXND1	NDUFB11	HNRNPK	STX16	KAT8	KCNQ1OT1	ZNF81	ATP6V1B2	AMBN	PIGK	TWIST2	COL1A1	POLR3GL	PEX1	KDM6B	EFL1	HDAC8	KRT14	FLNB	EDAR	IFT122	KDM4B	AIP	CTBP1	STAG2	CLEC7A	CEP152	FGFR2	LRP6	AMER1	GALNT3	GABRA2	PTPRF	KRT6A	CYP27A1	SEMA3E	RIN2	CERT1	SCUBE3	TNRC6B	WDR11	FGFR3	CNNM4	UFD1	SEC24D	CTSC	CCBE1	ATP1A3	GHR	CENPE	ITGA6	NUP133	FGF3	ASPH	XPA	TFAP2B	COL3A1	PPP1R15B	NPM1	DMD	GLI2	EDNRA	HCN1	CLCN7	OCRL	ACSL4	ACTL6A	TANC2	NKX2-1	AMELX	SETD5	SHANK3	NSUN2	TNFRSF11B	MYL2	UBR1	MED12	ERCC4	MAPK1	FOXC1	TRAF3IP2	XPC	MASP1	ANAPC1	NODAL	HS2ST1	PDE4D	COL7A1	AFF3	SRCAP	CPLX1	SNAP29	ANKRD11	FGF17	BPTF	RECQL4	SATB2	ACP4	DSP	BAZ1B	ARX	HS6ST1	PLK4	LBR	SIN3A	GPR101	ATP6V0A2	ROR2	ALDH3A2	UBE3B	SEC23A	CTCF	NOP10	FERMT1	C12orf57	ASXL3	COL17A1	UPF3B	FBN1	RPS6KA3	PTEN	JUP	NFIX	HLA-DQB1	ZMYM2	ENAM	COL2A1	TRAIP	ESPN	PLCB4	B3GLCT	PCDH15	WDR73	CA2	FUCA1	ERCC2	IQSEC2	CLIP2	COX4I2	GTF2IRD1	SPECC1L	TRIO	HCFC1	DALRD3	PERP	POF1B	PRKACB	ALX4	FLCN	POLR3K	BRAF	SFRP4	AMTN	HK1	KANSL1	DLX3	EVC	GTF2I	ANKH	KRT5	NTRK2	FAM20A	SZT2	HCCS	GPC4	INTU	MPLKIP	LETM1	YY1	LOX	NHS	FOXH1	SMARCA4	WNT10B	UBE3A	SOBP	OBSL1	DLG1	NGF	MYO7A	COL5A2	SMAD3	PTCH2	NEK1	SLC25A24	FAM83H	SLC12A2	SMC1A	TDGF1	AIMP2	MAPK8IP3	WDR4	CACNA1A	MYOD1	TTC7A	CHD7	TRAF6	BRCA1	ABL1	MKRN3	WDR26	IKBKG	FGF23	GJA1	COG6	SUOX	FLRT3	ATRX	DNAJC21	RAB3GAP1	NSD2	ACTA1	STIM1	CCDC32	FAT4	TBL1XR1	FGD1	PIGF	TACR3	POLR2A	NPHS1	PLG	SMCHD1	USP9X	EEF1A2	CCR6	KCNA2	CLDN1	SMARCD2	LIG4	PRR12	ELN	ERCC5	ATR	KCNJ2	SDR9C7	PAX9	PHEX	AP3B1	CCDC141	FRMPD4	NONO	CDK10	CDH3	TCOF1	PCNT	KIF7	TNFRSF11A	SMOC2	PPIB	COL11A1	PAPPA2	UROD	KISS1R	GFPT1	SMARCA2	AHCY	MAF	THRA	ITGB4	DNM1	CYP4F22	PTH1R	CKAP2L	TRPS1	B4GALT7	RDH11	TAC3	SLC13A5	SATB1	HOXD13	PURA	NXN	AEBP1	AP3B2	GATAD2B	NOTCH3	PLEC	MLXIPL	SUFU	PLOD1	ARID2	XRCC4	MCTP2	TBC1D24	ZNF41	KCTD1	FTSJ1	H19	LAGE3	TMEM231	HMGA2	VAC14	PUF60	XYLT1	KMT2D	MBTPS2	NUS1	DLL1	IL17RC	SCN8A	ARVCF	ALKBH8	TPM3	EVC2	CREBBP	NOTCH2	IL17F	ALX3	HUWE1	CNKSR2	ITGB6	BBS1	TBX3	FZD2	SOX4	DDX6	LRP5	DKC1	BCAS3	LMNB1	SMARCC2	PEX6	BMP2	ALOX12B	SP7	POLR3B	EYA1	SHOC2	KDF1	GUSB	NSDHL	FARS2	GTF2H5	MGAT2	NAA10	PROKR2	IFT57	PRKACA	IFT43	WWOX	ADNP	B3GALT6	FGFRL1	KRT81	CUL7	CTNND1	DYRK1A	DPYD	STAG1	CCDC47	ENPP1	ZIC2	RIPK4	PAX1	HESX1	DPF2	DLX4	ATRIP	SSR4	STX1A	SCARF2	P4HB	TRAK1	RAB23	EFNB1	AGXT	MEIS2	BMP4	CYP27B1	IL17RD	ALG13	KRT16	JMJD1C	GTF2IRD2	PTHLH	MTX2	CIB2	INSR	BLM	KIF1C	PTPN11	ABCA5	KRT86	FGF12	TRMT10A	SETD1A	COL5A1	SPRY4	PIGA	CAMTA1	IDS	TNFSF11	PRKAR1A	HLA-DRB1	EDA2R	ACOX1	JARID2	OFD1	NTNG2	CCDC28B	NDN	MSX2	SMG8	TRPV3	AGA	FREM1	ACD	HRAS	CEP120	LARP7	EIF4H	SLC24A4	KRT6B	LIFR	DSE	POLR3A	TWIST1	RSPRY1	PACS1	FAM111A	GRHL2	GORAB	DOCK7	CILK1	SMC3	TBX4	PTPN23	GNRHR	KATNB1	SOX18	SNX14	SMARCAL1	FREM2	POLR1D	STIL	SKI	KDM6A	DYNC2LI1	WDFY3	SMOC1	ZSWIM6	BCORL1	METTL27	MAP3K7	NPAP1	DHCR7	GABRB2	GDF5	TMCO1	DPP6	CENPJ	KRT83	GALNS	PRKD1	GLI3	TENT5A	C2CD3	SLC1A2	DHODH	IL17RA	MAN2B1	AARS1	KMT2E	RBBP8	FKBP6	BRD4	RNF113A	NSD1	OTUD5	KCNK9	CAT	SH3BP2	ZNF469	TCF7L2	BCL11B	VPS37D	POC1A	RNF13	GABRA5	PTDSS1	TCF4	CCDC8	IL11RA	LIPN	SNORD115-1	CDH23	PARS2	ANTXR2	PGAP1	LMX1B	MESD	WDR72	IFIH1	THOC6	KCNE5	KIAA0753	MECP2	TRIP11	ACP5	PORCN	LRP4	SUMO1	SERPINH1	PIGG	GFI1	ABCA12	CEP85L	IRF5	HSPA9	CHRNE	KLK4	TGFA	ANTXR1	VPS51	DCHS1	MMP1	DSG4	ALPL	VDR	PARN	ADGRV1	ADAMTSL1	ORC1	HLA-DQA1	SLC37A4	HIRA	ARL6	ARHGAP29	ATP6V1E1	PIGS	SLC39A13	SOST	GJB2	TSPAN7	PDGFRB	SEC24C	CLDN19	TRIM37	ANKRD17	MYH3	APC2	IL1RAPL1	SYNGAP1	NUP85	DDB2	CELF2	TAB2	WHRN	NMNAT1	FKBP10	RPL10	PCYT1A	RNF2	GJB6	GABRG2	RBM28	IDUA	CUL4B	ELMO2	GREM2	SELENON	SVBP	PCGF2	MED13L	HERC2	HEPHL1	MBD5	WASF1	FGF13	SLC35C1	USH1G	TGM1	PTCHD1	SON	TINF2	GRIA3	DHDDS	RREB1	SH3PXD2B	DVL1	IGF1	CHD3	COMT	ZMIZ1	TRMT1	AMMECR1	KIDINS220	AXIN2	NCF1	MMP13	DOCK3	SCN3A	KDM1A	RPS23	NELFA	SET	MMP2	DDX59	NDNF	TPRKB	CFAP418	GTF2E2	EDN1	EIF2S3	GPR68	SLC29A3	MADD	DPYSL5	YWHAG	ITGB2	MID1	ITGA7	KCNMA1	SLC10A7	ARHGEF6	BCL7B	KCNB1	ARID1A	SYNJ1	NF1	KCNN3	NEPRO	SOX11	POLD1	IFT140	HMGB3	TSPEAR	CAV1	IFITM5	NARS1	MAP3K20	SBDS	USH2A	IFT52	GRIN2D	SNRPB	AKT1	DDR2	USB1	RFC2	UBR7	DLG3	TPM2	IRX5	GRIA4	MCOLN1	C1S	RAB39B	REV3L	CTDP1	DNMT3A	CYFIP2	FLII	AGTR2	WNT5A	FN1	MMP20	PEPD	NTNG1	COX7B	PSMD12	CNOT3	MYSM1	GRIP1	KMT2A	GP1BB	PAK3	SNORD116-1	LTBP3	PQBP1	ACVR1	PLEKHM1	ODAPH	EIF4A3	ZNF341	MED13	GDI1	LIMK1	CNOT2	CLCN3	POP1	TTI2	NRAS	FEZF1	SGMS2	SLC9A7	GLI1	CDH11	KAT6A	RMRP	TAF6	CNOT1	NUP107	ERCC1	NIPAL4	SLC35A2	OSGEP	SETD2	SEMA3A	CACNA1C	PALS1	SYP	KIF15	MIA3	EXT1	SMARCE1	TMEM165	CACNA1B	GNB2	ANOS1	GLB1	WDR19	MKS1	CSTB	TBL2	RSPO1	PWAR1	RIC1	ADAMTS10	DPH1	TMEM270	NECTIN4	CYP2R1	HTT	B3GAT3	PPP3CA	TP53RK	KDM5C	MID2	ORAI1	ADAMTS2	POLR1B	GNRH1	LMBRD2	STEEP1	USH1C	SIX1	RHOA	SPART	MAP2K1	KCNJ5	PPP2R3C	BANF1	PWRN1	SULT2B1	PKP1	GATA1	WRAP53	CREB3L1	LEMD2	TRAPPC4	PDZD7
HP_ABNORMALITY_OF_THE_GINGIVA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_GINGIVA	MLXIPL	DKC1	WAS	ATP6V1B2	GFI1	CDKN2B	TBCK	ROR2	TRIM8	HYLS1	SMAD4	MGAT2	STAT3	GPC3	TRPV3	AGA	PLEKHM1	GTF2I	TBC1D24	FGA	NCF1	TERC	LMNB1	IFNG	LYST	ZNHIT3	LIMK1	OSTM1	TSC2	KIF23	GLB1	EIF4H	KCNK4	GNAQ	ITGA2B	ANTXR2	FAM20A	CDKN1A	F8	ELANE	F13B	KLLN	VAC14	GPC4	IER3IP1	MMP2	INSR	KRT6A	STAT5B	FAM20C	MBTPS2	PRMT7	ABCC9	DSP	FCGR2C	CYBB	CD40LG	KCNH1	FGFR2	CTC1	NCF2	SAMD9	RIN2	TSC1	MCFD2	NOTCH3	MPL	ELMO2	NABP1	GORAB	NFIX	GP1BB	NOTCH2	ATG7	F2	NGF	CTSC	CCBE1	ITGB2	DVL3	ECM1	LMAN1	SC5D	FZD2	RALGAPA1	PDGFRB	SLC37A4	PRKAR1A	AIMP2	NPM1	FGB	PRF1	ZEB2	BCL7B	SLC35C1	HPS1	OCRL	PIGS	SRP54	ALMS1	KCNN3	RTEL1	GUSB	MIA3	WDR26	SLC17A5	BLOC1S3	SETBP1	PLG	GJB2	FGG	F7	COL3A1	PIGN	NXN	GP9	METTL27	TBL2	C1S	NHP2	JAK2	TMCO1	DVL1	PARN	NCF4	MAP1B	ZBTB16	GP1BA	TCIRG1	FIG4	MYD88	ABCA5	SCARB2	AFF3	IDS	TBC1D2B	DHCR7	BCOR	CYBA	KCNJ6	ITGB3	ELN	DDR2	USB1	RARA	TMEM270	BLOC1S5	FERMT1	GBA	F5	MAN2B1	SOS1	RFC2	FAT4	TET2	LBR	SBDS	ADAMTS3	PML	REST	FKBP6	STX1A	CDKN1B	BAZ1B	NEU1	VPS13B	CAT	PLAGL1	AP3B1	ADAMTS2	TCTN3	WIPF1	CNTNAP1	USP9X	BUD23	RMRP	IDUA	KIF7	DNAJC30	DHCR24	F10	CLTRN	CD96	GTF2IRD2	NUMA1	TERT	NOP10	VPS37D	WNT5A	MEN1	KIF1A	FGF3	EMC1	TBL1XR1	ASXL3	IRF9	B4GALT7	SLC29A3	IRF2BP2	CXCR4	HYMAI	NTRK1	PIGA	MYSM1	TINF2	FIP1L1	WRAP53	MMP14	SH3PXD2B	C1R	CDKN2C	CLIP2	F13A1	SERPINF2	EXTL3	GTF2IRD1	CYBC1	GJB6	KCNMA1	AEBP1	IL18BP	SLC6A19	PERP	GNPTAB
HP_GINGIVAL_FIBROMATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GINGIVAL_FIBROMATOSIS	ABCA5	REST	KCNH1	PDGFRB	FAM20C	CDKN2B	CDKN1B	IFNG	MEN1	ANTXR2	SOS1	TSC1	NOTCH3	CDKN2C	ATP6V1B2	TSC2	DHCR24	ELMO2	KCNN3	CDKN1A
HP_MICROGLOSSIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROGLOSSIA	SMO	PRRX1	PTDSS1	LMNB2	DHCR7	EDN1	TBX15	BMP4	GNAI3	TRIM37	MYMK	GLI3	OTX2	ECM1	RBBP8	PLCB4	NEK1
HP_ABNORMAL_UVULA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_UVULA_MORPHOLOGY	ORC1	PTCH1	TGFB3	SUPT16H	SELENOI	TP63	ORC4	CDC6	B3GALNT2	ROR2	RAD51	HYLS1	SMAD4	SNRPN	SHH	SIX3	FANCC	EIF4A3	TGIF1	STAG2	PIEZO2	DAG1	RPS23	PIGW	TMEM231	AMER1	RXYLT1	FANCF	ERCC4	KAT6B	FANCD2	XYLT1	DDX59	COL11A2	MYLPF	CDON	GRHL3	FOXH1	DLL1	FGF8	FGFR1	ZIC2	PIGL	TGFBR2	KIF14	CUL3	GLI2	KMT2C	LARGE1	EDN1	CDH11	FGFR3	FANCL	DDX3X	SMAD3	TDGF1	FGFR2	POMT1	FKTN	B4GALT7	RECQL4	MEG3	PALB2	GAS1	RPL5	PGM1	MAD2L2	ZEB2	FANCA	ALG3	STIL	PIGV	TBCE	SMC1A	FANCG	FGF10	SMS	TGFBR1	SPTBN1	COL4A1	EYA1	KCNN3	HAAO	SLC39A13	PLCB4	TXNL4A	POMGNT2	NODAL	IFT140	MAP3K7	POLA1	DISP1	IRF6	DLK1	FANCB	CDC45	FANCI	FTO	KCNK9	FANCM	RTL1	SPECC1L	SPEG	UBB	SMCHD1	RYR1	USP9X	BRIP1	GMNN	TBX22	COL2A1	PGAP3	SLX4	PRR12	FKRP	BIN1	SMPD4	BMP4	PGAP2	STAC3	POMGNT1	HNRNPK	SON	TCTN3	RAD51C	KIF7	POMK	FANCE	COL11A1	GLI3	SIAH1	KCNH1	IGBP1	TBX1	SIX1	SEC23A	PIGO	UBE2T	TTN	CRPPA	PPP1CB	SATB2	PTDSS1	HYAL1	B4GAT1	DHCR24	GNAI3	TGFB2	IPO8	FLNA	POMT2	PGAP1	SHMT2	SMARCD1	TTC37	SETD5	RFWD3	DLG3	PIGY	BRCA2	XRCC2	ALG9	NXN	CDT1	WDR35	ATP6V1B2	BRCA1	AEBP1	BGN	RNU4ATAC	ORC6	BCOR	AMMECR1	SERPING1
HP_ABNORMAL_PALATE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PALATE_MORPHOLOGY	KAT6A	AGRN	ZEB2	PYROXD1	SHH	HYLS1	RRAS	DPM2	GPC3	GATA3	OTX2	BCOR	HSPG2	CHRNE	TGIF1	CEP41	NECTIN1	CDH2	MED27	TCF3	FAM149B1	RUNX2	ZMPSTE24	ERCC3	FANCF	ERCC4	FANCD2	PAH	RBM10	MYH7	TUBG1	IRF6	CTSK	CHRNG	TRIP4	MYCN	COLQ	FGFR1	DEF6	EMC10	TOGARAM1	LMNA	CDON	TNNI2	TRIP12	SDHD	TPM3	MED25	HPGD	DHODH	TECR	LRRC8A	GMNN	NAA10	IGHM	MEG3	STAT3	COLEC10	NEFL	EFEMP2	ATP6V1A	MAD2L2	FANCA	SETBP1	PTCH1	CLCN3	NCDN	IBA57	TGFBR1	YAP1	FBXW11	DDX6	FAM20C	RPL35A	RAI1	TCF20	RPS26	WNT4	NIPBL	CD96	FLNA	PSAT1	PEX12	SIX3	DUSP6	NSMF	SOX5	NUAK2	RTL1	TARS1	POLA1	SMS	RPS15A	IGF2	SEMA5A	ALX3	DISP1	RLIM	ZDHHC9	FGF8	GNB1	KCNN3	KATNIP	ALDH6A1	SOX10	TGFBR2	RAB3GAP2	STAMBP	MYT1L	ESS2	USF3	FIG4	ZPR1	ARNT2	PLOD1	SPEN	RPL15	ADAT3	RAD21	PLAA	GRHL3	COL13A1	DCC	ELN	RAB3GAP1	VPS13B	TBX1	KCNH1	KRAS	LHX4	FGF20	OFD1	MYPN	QRICH1	FRAS1	SIK3	PEX26	VAX1	COL9A2	PIGL	HPDL	SLC26A2	CDK19	RUSC2	PEX5	GDF3	STAC3	PEX16	DGCR2	GAS1	KLLN	PMM2	DPAGT1	FANCE	TFAP2A	CHRND	PNKP	PUS7	TLK2	SPATA5L1	LGI4	FLI1	SIAH1	SELENON	SYNCRIP	KLHL41	PTEN	SCN1B	AASS	DST	DEAF1	CRLF1	TAPT1	AGO2	PPP1CB	RPS19	HACD1	TMEM107	CBS	OSGEP	PIGT	CFL2	GNAI3	POMT2	MKS1	TP63	KISS1	TRIP13	ACTA1	EP300	DVL3	SPTBN1	FGFR2	PROK2	DOCK3	MAPRE2	YARS1	PRDM5	PLXND1	HNRNPK	SEPTIN9	PAX3	KAT8	WNT7A	WDR35	AFF4	ATP6V1B2	RECQL4	BRCA1	MYOD1	PYCR2	TWIST2	APC	COL11A1	SUPT16H	HDAC8	FLNB	PURA	KDM4B	SMOC1	SLC6A17	HERC2	EBP	CTBP1	STAG2	MBTPS2	TCTN2	MEGF8	COL11A2	LRP12	MTM1	TMEM216	PEX7	TBC1D24	NEB	CENPF	RAPSN	AMER1	TPM2	CDKL5	TMEM237	NALCN	LZTR1	SEMA3E	RIN2	SHOX	RPL5	SCUBE3	TNRC6B	WDR11	ACTG2	LARGE1	FGFR3	UFD1	SEC24D	FOXP2	CCBE1	CDKN1C	RYR1	BRAF	TWNK	SYT2	DIS3L2	KLHL7	FKTN	CEP290	GLI2	COG1	MYH3	NUP107	EDNRA	MUSK	WASHC5	OCRL	PEX19	DSE	SELENOI	SOS1	ACTL6A	CNTN1	ITGA8	MSTO1	CPLANE1	MAP3K7	DDHD2	GSC	NSUN2	MYL2	TGFB3	MAPK1	PEX3	NRAS	PAFAH1B1	SNRPB	MASP1	CD79B	NODAL	HS2ST1	PEX1	SRCAP	CPLX1	SLC35D1	SIX2	SOX2	EFTUD2	PEX11B	UBB	VAMP1	FGF17	MEGF10	NEK9	PQBP1	SPTBN4	SPEG	PGAP3	CHST3	BIN1	TUBB	SATB2	NIPA2	KIAA1109	KIF7	TAF1	TCTN3	POMGNT1	ANKRD11	HS6ST1	AP4S1	ERMARD	LTBP2	TXNDC15	RMRP	SIN3A	ATP6V0A2	UBE3B	CLCF1	SEC23A	CTCF	PDE6D	COL12A1	UBE2T	NBN	PRUNE1	TAOK1	CHST14	TBX4	MED12L	ZNF292	ASXL3	FBN1	ATN1	INTS1	JUP	SEC31A	NDUFA8	ZMYM2	RPL31	COL2A1	SF3B4	MED12	RFWD3	PLCB4	EARS2	DLG3	B3GLCT	DGCR8	CDH1	TSR2	TOE1	IQSEC2	DDX11	ODC1	OTUD6B	TRIO	RNU4ATAC	CDC6	FLCN	COL6A1	FRMPD4	AP4B1	SCN2A	ZNHIT3	ERF	GPC4	INTU	MPLKIP	SLC25A1	LETM1	EYA1	FBN2	LOX	FOXH1	GDF6	OBSL1	DLG1	SALL4	MYO18B	COLEC11	TBX6	SMAD3	PTCH2	NEK1	FOXE1	ZSWIM6	SLC25A24	TBCK	SMC1A	TDGF1	ABCC6	FUT8	MAPK8IP3	MRAS	HNRNPU	BUB1B	WDR4	WDR73	CHD7	KIAA0586	COL4A1	AP4M1	ABL1	RPS10	WDR26	TASP1	GJA1	NPHP1	FLRT3	ATRX	PIGV	POGZ	FANCL	RAB18	MFAP5	ARID1B	MSX1	PIGN	PROKR2	IGLL1	NSD2	COL6A2	CCDC32	FAT4	TBL1XR1	FKBP14	PRMT7	HBA1	ATP7A	ALG14	FGD1	TACR3	ASXL1	ERLIN2	POLR2A	KCNJ6	TRRAP	SMCHD1	TUBB6	USP9X	ACTB	INPPL1	SLC25A46	PRKG1	LIG4	PRR12	KIAA0753	DOK7	MYMK	HMGA2	BMP4	ATR	KCNJ2	PGAP2	CCDC141	SIK1	NONO	ZBTB20	RAD51C	CDK10	POMK	GRM7	TCOF1	DLL3	BMPR1A	RPS24	KISS1R	GFPT1	LAGE3	EDN1	MKKS	LMX1B	WNT9B	NUP88	ARX	TRPS1	POLR1B	TAC3	SKI	PIGO	CC2D2A	CHRNA1	BRCA2	TBX2	NXN	CDT1	AEBP1	NFIX	GATAD2B	NOTCH3	FGF9	SUFU	GDF11	MOGS	ADAM22	ROR2	NEUROD2	SMAD4	AKT1	CNOT1	MCTP2	CD79A	MT-CYB	XYLT1	DGCR6	TMEM231	VAC14	PGM3	IER3IP1	KMT2D	DLL1	ARCN1	ARVCF	KIF14	FOXA2	SNAP25	CREBBP	HOXD13	NOTCH2	HUWE1	SLC12A6	BBS1	HESX1	AP1S2	TANC2	POMT1	FZD2	LAMB2	LRP5	BCAS3	SHOC2	RPS20	BMP2	PAX1	SURF1	SP7	CHSY1	DHPS	MYBPC1	HAAO	SOX3	NSDHL	UPF3B	GTF2H5	B3GALT6	CHRNB1	RPGRIP1	PEPD	RPL26	PTPN14	CHN1	MAF	SEC23B	PIK3R1	TRIM8	ALX1	RB1	FGFRL1	CTNND1	ANK1	SPECC1L	DYRK1A	DPYD	STAG1	CCDC47	ZIC2	BRIP1	PUM1	RIPK4	PPP2R5D	AIFM1	PEX10	SOX6	DLX4	LMBRD1	PROP1	CPT2	SCARF2	RAB23	COL3A1	EFNB1	SYNGAP1	RPL11	MEIS2	SLC18A3	DHCR24	PIEZO2	MINPP1	JMJD1C	BCR	MTX2	PIGH	INSR	FOXC2	PTPN11	HES7	TBX15	B4GAT1	RRM2B	MAP2K2	MID1	B9D2	TGFB2	ALX4	PIGA	SHMT2	CARS1	SPRY4	PPP1R21	WNT3	KIFBP	SLC25A22	JARID2	SERPING1	TRMU	RERE	FAM50A	NTNG2	MECP2	MYO9A	B3GALNT2	BRAT1	CCDC28B	DLK1	MSX2	MAT2A	RIT1	FANCC	CEP120	PIGW	GREB1L	CTU2	PRRX1	RNASEH1	FH	MYLPF	DYNC2H1	B9D1	SLC2A10	TWIST1	COL1A2	ESCO2	CRKL	PCLO	CILK1	SC5D	DDX59	SMC3	PTPN23	GNRHR	SNX14	B4GALT7	FREM2	SDHC	POLR1D	PHF8	SHANK3	ALG3	STIL	PEX6	COPB1	RPL27	HRAS	DSP	KDM6A	CHAMP1	WDFY3	COL6A3	ECEL1	KCNA1	TELO2	MRPL12	HYOU1	BCORL1	DHCR7	MYH11	CEP57	RPS6KA3	TMCO1	FTO	PDHX	DBH	COX14	NLRP3	GLI3	C2CD3	PEX13	DHX30	FARSB	LBR	INPP5E	KMT2E	ERCC5	RIPPLY2	PIGB	BRD4	NSD1	PIK3CA	KCNK9	TGDS	SH3BP2	GMPPB	ZNF469	PUS1	TCF7L2	PHIP	PEX14	IGBP1	GNE	SOX9	LOXL3	CRPPA	SMAD2	IGF1R	PTDSS1	TCF4	HYAL1	TFE3	EIF2AK3	TMEM67	PIGU	LRRC32	MYLK	PGAP1	HYMAI	MESD	SETD5	HEY2	XRCC2	THOC6	SETD1A	GJB2	TNNT3	LRP4	ORC1	PIGG	TTN	ORC4	CLTC	SNRPN	RAF1	C12orf57	SPRED1	HSPA9	NUP188	KBTBD13	ANTXR1	NIPA1	TBX22	SCN4A	RPS28	VPS51	CSPP1	SIX1	RPL35	FKRP	MESP2	KMT2C	EDEM3	MAMLD1	EXOC7	DDX3X	ECM1	ARID2	BPNT2	RPGRIP1L	HIRA	PALB2	CHAT	ARL6	PIGQ	ARHGAP29	ATP6V1E1	FANCG	FGF10	ACBD5	SLC39A13	PITX1	HERC1	LEMD3	SOS2	SEC24C	ERCC2	MT-TE	CDC45	COL9A3	ANKRD17	GAD1	HSD17B4	G6PC3	ACTN2	SATB1	MAP2K1	TAB2	FOXF1	KMT2A	OCLN	SLX4	PIGY	HBA2	POU1F1	TRPV4	SMO	MIR140	EFL1	KPTN	RRAS2	CUL4B	ELMO2	ARHGEF2	CCDC22	SVBP	PCGF2	YARS2	MED13L	COL9A1	FOXL2	PEX2	GEMIN4	SUMO1	WASF1	ANOS1	SLC35C1	PPP3CA	CTNND2	TTC37	ALG2	SON	RPS29	EPG5	GRIA3	TXNL4A	AK9	ACVRL1	RREB1	MN1	CBL	SH3PXD2B	DVL1	RET	SIX5	ORC6	CHD3	COMT	ZMIZ1	HOXA2	TRMT1	GATA1	GIPC1	RAD51	DPM1	RBM8A	DAG1	YY1	RPS23	ZBTB24	NELFA	POLR1C	RPL18	AHI1	SET	ARHGAP31	NDNF	KANSL1	DDR2	GTF2E2	ACTL6B	EIF2S3	ATG7	MADD	DPYSL5	GNAO1	GLE1	PLAG1	PHGDH	KDM5C	ITGA7	NEDD4L	CA2	COX6A2	MEOX1	LMOD3	KCNMA1	SLC10A7	SMG9	TBCE	COL5A1	BPTF	POMGNT2	SLC17A5	TOPORS	IFT140	POR	AP4E1	PRKAR1A	MAP3K20	FANCB	MAP1B	FANCI	ENG	FBXL3	SMARCA2	ENPP1	AP1G1	SLC12A2	UBR7	BICRA	SPRED2	SMPD4	SLC5A7	IRX5	GRIA4	CASK	PLAGL1	CNTNAP1	REV3L	TCTN1	BMPER	NFASC	ADARB1	DMXL2	FLII	HNRNPH2	WNT5A	ATAD1	KIF1A	ADA2	COG5	BUB1	FN1	RNF2	NTNG1	EXOSC9	CNOT3	H19	WBP11	GRIP1	GP1BB	GBA	YWHAE	AMMECR1	KAT5	SRY	DONSON	EIF4A3	PSMD12	ZNF341	MED13	RARS2	BLNK	RPS17	RPS7	RXYLT1	KAT6B	SPOP	LARS2	FEZF1	CEP152	EXOC6B	CUL3	CDH11	PAX7	MYL1	TAF6	RPS27	ZNF699	SLC35A2	POLR1A	GNPAT	SEMA3A	PGM1	PALS1	TET3	TBC1D20	CTNNB1	LFNG	TUBB3	CYP26C1	NOTCH2NLC	EXT1	IL17RD	GNB2	PORCN	BUB3	MAFB	RIC1	RASA2	FANCM	CHUK	DCHS1	ADAMTS10	PPP2CA	KDM1A	HTT	HECW2	B3GAT3	ACTA2	RNF113A	CLP1	GNRH1	MECOM	LMBRD2	GATA4	MT-TN	IFT122	AR	SLC25A19	NF1	MYH2	SH2B1	WARS2	DPH1	KCNJ5	FOXE3	TBR1	IPO8	ZC4H2	POLR3A	CSNK2A1	SMARCD1	THOC2	MCM3AP	DLX5	PAK3	UBA1	SDHB	EIF5A	ALG9	PIGP	TRAPPC4	BGN
HP_ABNORMALITY_OF_UPPER_LIP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_UPPER_LIP	RERE	FKTN	OFD1	NTNG2	UNC80	KAT6A	TBCE	NALCN	SHH	RTTN	COL2A1	BRAT1	TBCK	CLCN4	DLK1	NDN	HYLS1	SMG8	DPM2	RAC3	GPC3	DOCK7	CKAP2L	FREM1	CDC42	BCOR	HSPG2	LARP7	TGIF1	EXT2	RAB11B	TRIP12	NECTIN1	CDH2	MED27	EIF4H	TWIST2	PIGW	GREB1L	MAB21L1	PAH	FZD2	DYNC2H1	DSE	IRF6	PRMT7	SLC2A10	NODAL	WDR19	SRCAP	TWIST1	CDON	CHRNG	EBF3	CC2D2A	RSPRY1	RAPSN	RPL10	BRCC3	FGFR1	PACS1	PTEN	CASK	STIL	ESCO2	STRADA	EMC10	CRKL	PHF21A	PCLO	CILK1	MARS2	FRAS1	SC5D	SNAI2	DDX59	SMC3	TNNI2	SEMA3E	CHST3	ERLIN2	PTPN23	EHMT1	MED25	KATNB1	DHODH	EDA	SNX14	NAA10	SMARCB1	MEG3	CPLX1	FREM2	COLEC10	POLR1D	ATP6V1A	SHANK3	SETBP1	PTCH1	CLCN3	SMC1A	ATP1A3	SLC2A1	SIX3	SPTBN1	KARS1	AP4E1	YAP1	CHAMP1	COPB2	DHX37	FBXW11	WDFY3	DDX6	TCF20	RAI1	PDGFRB	MMACHC	SMOC1	DYNC2I1	NIPBL	EDARADD	IFT81	ZIC2	TMEM94	PDE4D	NUAK2	ZNF711	RTL1	WDR62	SMS	ARID1B	SYT1	MEIS2	BCORL1	DISP1	RLIM	ZDHHC9	METTL27	TRAPPC4	NPAP1	ALDH6A1	GALNT2	DHCR7	PTRH2	TRIP11	RAB3GAP2	PPP1R12A	PIGN	TMCO1	USP9X	MYT1L	FIG4	OCA2	ZPR1	GLI2	FAR1	PKDCC	PBX1	SPEN	RSPO2	KAT6B	RAD21	PLAA	EEF1A2	GRHL3	GLI3	FGFR2	ELN	RAB3GAP1	VPS13B	SNRPN	TBX1	CIT	LHX4	FGF20	QRICH1	KMT2E	KIT	MCPH1	TENM3	ADAMTS3	BMP1	UBE3B	MGP	RIPPLY2	FKBP6	VAX1	PAM16	PIGB	BRD4	FGF8	CDH1	MECP2	PIGL	HPDL	CDK19	SMARCD1	DCPS	GLIS3	SLC6A17	RUNX2	CSGALNACT1	PAX3	KCNK9	B4GALT1	GAS1	EPB41L1	FBN1	MICU1	ZBTB18	MAGEL2	BUD23	WDR37	PMM2	SATB2	MSL3	DNAJC30	HRAS	TFAP2A	TCF7L2	RNU4ATAC	PHIP	PUS7	DLL1	SPATA5L1	HDAC8	PEX26	CLCF1	FLI1	BCL11B	GNE	SYNCRIP	PYCR2	VPS37D	POC1A	AASS	TUBGCP2	DEAF1	PHF8	KIF11	CRLF1	TAPT1	IARS2	AGO2	CCNQ	PPP1CB	IGF1R	GBA	EMC1	TCF4	NOG	CCDC8	PIGT	TP63	SLC1A3	SNORD115-1	PIGU	LRRC32	TRAPPC9	SLC29A3	NFIA	TUBB	DVL3	KDM3B	MESD	SETD5	AP4M1	YWHAE	IFIH1	USP27X	TAF1	PIGQ	HNRNPK	THOC6	KAT8	SETD1A	ZNF81	ACTB	KIAA0753	AFF4	KCNJ11	LRP4	PIGK	EXOSC2	KCNJ2	POLR3GL	PARS2	CANT1	APC	PIGG	SUPT16H	PROKR2	RALA	ATP6V1B2	KDM4B	FLNB	CLTC	PURA	ATIC	MYL2	RIPK4	BCAS3	MTOR	NOVA2	PIEZO2	CTCF	CTBP1	STAG2	CHD2	GLB1	ACTG1	ANTXR1	ZMIZ1	FGD1	MAN1B1	ALG12	TBC1D24	PRKCZ	NEB	VPS51	UGP2	ZNF148	DLX4	PTPRF	AP4B1	KNL1	FKRP	MESP2	RIN2	CERT1	TNPO2	ABCC9	PPP2R1A	TNRC6B	NEXMIF	UFD1	EDEM3	CCBE1	EXOC7	DDX3X	ADAMTSL1	RYR1	ARID2	BRAF	ADNP	TMEM70	DIS3L2	RPGRIP1L	TFAP2B	COL3A1	HIRA	METTL5	KCNAB2	PPP1R15B	INPPL1	IREB2	DMD	CBL	COG1	ATP6V1E1	NUP107	SYNGAP1	OCRL	PIGS	ACSL4	ACTL6A	ITGA8	UBR7	HDAC6	CUL7	PDPN	DYRK1A	TDGF1	MAP3K7	TSPAN7	MAPK1	MED12	MUSK	SEC24C	ALX4	ITCH	SLC9A7	PSMC3	LTBP4	MASP1	HS2ST1	ANKRD17	MYH3	AFF3	EXOSC1	POR	IL1RAPL1	GAD1	POGZ	AVP	SATB1	PQBP1	MAP2K1	FOXC2	ANKRD11	TAB2	BPTF	NEK9	GATAD2B	KMT2A	GPC6	OCLN	PGAP3	EFTUD2	UGDH	CNOT3	TALDO1	CREBBP	KIFBP	POU1F1	MPC1	BAZ1B	RNF2	SMO	NOTCH2	TCTN3	MIR140	ARX	AP4S1	MFSD2A	ERMARD	UBE2A	CUL4B	NLRP1	CRTAP	SIN3A	ATP6V0A2	ARHGEF2	SEC23A	SVBP	PCGF2	YARS2	CEP152	ATP1A2	KCNJ8	HERC2	NBN	DENND5A	SOX11	TAOK1	FGF3	CHST14	MED12L	SUMO1	C12orf57	ZNF292	ASXL3	ALG9	MBD5	UPF3B	ATN1	INTS1	WASF1	RPS6KA3	MOCS2	SLC35C1	ADSL	GPC4	ALG11	EDAR	FOXG1	TTC37	SF3B4	PTCHD1	NSD1	SON	EPG5	B3GLCT	GRIA3	NEK1	TCTN2	TOE1	RREB1	IQSEC2	ODC1	CLIP2	MOCS1	EXTL3	TMEM237	NCAPD3	SH3PXD2B	GTF2IRD1	MID2	OGT	OTUD6B	DVL1	SPECC1L	TRIO	HCFC1	ADAMTSL2	SMAD4	TGFB3	COMT	PRKACB	FLCN	TRMT1	RPS7	PDHA1	HK1	DPM1	KCNJ6	KIDINS220	GTF2I	EZH2	NCF1	LMNB1	ROR2	ZNHIT3	DOCK3	MAPK8IP3	FOXL2	FBXO11	KDM1A	YY1	TOR1A	NELFA	POLR1C	AMER1	AP2M1	CEP63	PREPL	LETM1	ARHGAP31	KANSL1	FOXH1	SMARCA4	BRPF1	OBSL1	ACTL6B	CHD7	EIF2S3	ATG7	MYO18B	PAFAH1B1	COLEC11	SLC26A2	DPYSL5	PTCH2	MID1	ZSWIM6	PHGDH	SLC25A24	PACS2	WAC	EED	RHOBTB2	ACTA1	WDR35	HNRNPU	KCNMA1	ZEB2	ARHGEF6	BCL7B	MYOD1	PPM1D	ARID1A	BRCA1	PUS1	CACNA1A	MKRN3	OTX2	WDR26	TASP1	GJA1	MSX2	ATRX	AUTS2	AGL	PIGV	PRDM16	KIF14	RAB18	SMARCE1	NXN	JUP	HOXB1	NSD2	BRF1	SLC45A1	CCDC32	FAT4	SNRPB	AMPD2	TBL1XR1	CDK13	MAP1B	CAMTA1	ATP7A	CAMK2G	NSUN2	TRRAP	SMARCA2	ALG13	ASXL1	CENPJ	SLC6A1	SLC12A2	POMT2	KCNH1	RFC2	COX7B	POMT1	SLC25A46	LTBP3	DLG3	STEEP1	BUB1B	MYH8	PRDX1	MYMK	SMPD4	IRX5	GRIA4	MAPRE2	ADGRG6	SMARCC2	PGAP2	XYLT2	RPS19	MEF2C	AP3B1	TGDS	FRMPD4	TBC1D20	RAB39B	NONO	NBAS	CDK10	KIF7	TCOF1	ADARB1	MRPS28	DLL3	EVC	CD96	CDKL5	DNMT3A	COL11A1	MADD	FLII	HNRNPH2	SPOP	COL11A2	AGTR2	PLOD3	MAF	WNT5A	KIF1A	SASS6	LMX1B	WNT9B	PTH1R	MSX1	SCN1A	TRPS1	WNT4	ZNF462	NTNG1	CLIC2	FLNA	PIGO	PSMD12	ERCC1	CPLANE1	PRKDC	GRIP1	AFF2	ANKLE2	GP1BB	PAK3	SNORD116-1	AMMECR1	NOTCH3	KAT5	MLXIPL	SUFU	GDF11	VPS35L	TRIM8	ASPM	CNOT1	MCTP2	ZNF41	MED13	XYLT1	CYFIP2	GDI1	LIMK1	FTSJ1	CNOT2	KCNK4	NFIB	GNPTAB	VAC14	PUF60	HSD17B4	CEP135	IER3IP1	FAM20C	UBE4B	EXOC6B	SLC35A1	BMP2	ARVCF	SUZ12	CDK6	FOXA2	HOXD13	CDH11	ALX3	HUWE1	IDH1	CDC6	CNKSR2	TAF6	DDB1	HESX1	ZNF699	CTNNB1	AP1S2	TANC2	RET	MEOX1	AP3D1	SLC35A2	INTU	SOX4	EP300	RPL5	CACNA1C	PALS1	CSNK2B	TET3	B3GALT6	LFNG	ERCC6	CYP26C1	CHSY1	CLCN6	SHOC2	KDF1	MMP23B	IFT43	PITX2	SYP	KIF15	PIK3CA	TXNL4A	NRAS	EXT1	ZNF407	STXBP1	TRAPPC14	GNB2	ABCC8	LAS1L	MKS1	PORCN	TBL2	IFT57	ACER3	NSDHL	PWAR1	AP1G1	RIC1	PRKACA	EXOC2	CHUK	DCHS1	FGFRL1	CTNND1	CCNK	NFIX	DPYD	LMBRD1	TMEM270	PPP2CA	NCAPG2	PPP2R5D	DPF2	DYNC2I2	HTT	SUMF1	B3GAT3	PROP1	KDM5C	RNF135	SIM1	STX1A	CCDC22	ALG8	BCL11A	OPHN1	EFNB1	KLHL41	CLP1	KRAS	CASZ1	POLR1B	EVC2	LMBRD2	HIC1	MINPP1	TAF13	JMJD1C	BCR	GTF2IRD2	TPM3	MTX2	NF1	WARS2	NKAP	KCNJ5	PPP2R3C	LUZP1	HES7	TRMT10A	PWRN1	MAP2K2	TBR1	SSR4	ZC4H2	POLR3A	PHC1	CSNK2A1	SHMT2	GABRD	SKI	CDK5RAP2	PIGY	IFT80	LEMD2	PPP1R21	COG7	EIF5A	WNT3	WDR4	ORC4	METTL23	EDA2R	JARID2	LARGE1
HP_ABNORMALITY_OF_LOWER_LIP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_LOWER_LIP	KAT5	RAF1	MLXIPL	ARID2	CLCN4	CDKL5	IFT122	BCAS3	ABCA12	MGAT2	RRAS	KANSL1	SNRPN	TGM1	AIP	RIT1	GTF2I	TBC1D24	NCF1	ZNF41	PITX2	HSPG2	CHD2	GDI1	FBXO11	SPECC1L	C12orf57	LIMK1	FTSJ1	YY1	RPS23	EIF4H	TFAP2A	PSMB8	ANTXR1	AMER1	AP2M1	NAGA	TTC26	ALOX12B	FGD1	RPS6KA3	ERCC2	ABCC9	SRCAP	ALOXE3	IDUA	EBF3	KCNH1	SMARCA4	MYCN	KNSTRN	RPL10	TNPO2	SLC9A7	KMT2C	FRMD4A	SALL4	CUL4B	DOCK7	MYO18B	HUWE1	CNKSR2	ECM1	FOXG1	ADNP	PHGDH	SLC25A24	ORC1	EHMT1	NIPAL4	MED25	CA2	SOX4	EDA	TBL1XR1	TFAP2B	ERCC1	SMARCB1	SMARCC2	WDR35	FHL1	MRAS	STRADA	DMD	MED13L	ZEB2	ARHGEF6	BMP2	BCL7B	NANS	SMG9	ARID1A	EDNRA	SYNGAP1	SMS	SLC2A1	OCRL	IQSEC2	HRAS	ACSL4	CHAMP1	SOS1	COL11A1	SHOC2	WT1	SYP	KIF15	TASP1	EDARADD	CUL7	NRAS	FUCA1	SOX11	DYRK1A	AGA	HGSNAT	ERCC6	SMARCE1	ZNF711	ATRX	ARID1B	TSPAN7	IFT43	ZSWIM6	WDR19	PIGN	OBSL1	SOS2	ABHD5	RAB3GAP1	MED12	IRF6	METTL27	TBL2	KCNN3	RAB3GAP2	ACER3	FOXC1	USP9X	MAFB	NEXMIF	CHN1	CAMTA1	ATP6V1B2	RASA2	AFF3	IL1RAPL1	PIK3CD	GNS	PAX6	IGF1R	EEF1A2	INSR	BDNF	KDM6A	FBXL4	SMARCA2	ELN	TMEM270	SLC6A1	MSX1	RFC2	KRAS	DHX30	DPF2	QRICH1	LTBP3	DLG3	HECW2	UGDH	CYP24A1	RNF135	FKBP6	KIFBP	ZBTB20	SPRED2	MID2	STX1A	SCARF2	MECP2	MCOLN1	BCL11A	SMARCD1	BAZ1B	SDR9C7	FBN1	HS2ST1	ADAMTS2	FRMPD4	NEU1	ARX	RRAS2	BUD23	ALG13	RAB39B	ERCC5	REV3L	STEEP1	DNAJC30	SIN3A	LZTR1	GPR101	GTF2IRD2	CDT1	PIGL	AGTR2	POMGNT1	VPS37D	RBMX	KIF11	PPP1CB	GBA	CYP4F22	PTH1R	MED12L	IFT52	SULT2B1	CCDC8	ASXL3	SETD1B	MBD5	SCN1A	UPF3B	TFE3	LIPN	NFIX	CLIC2	EDAR	CDH11	PTCHD1	PUS7	USP27X	GRHL3	ORC6	DEAF1	PLXND1	THOC6	MDH1	IDS	CLIP2	GLA	ZNF81	SRD5A3	CBL	PAK3	GTF2IRD1	KCNMA1	EDA2R	RIN2	RET	HCFC1	PTPN11
HP_THICK_LOWER_LIP_VERMILION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICK_LOWER_LIP_VERMILION	RASA2	KAT5	AFF3	RAF1	MLXIPL	ADNP	IL1RAPL1	GNS	ARID2	CLCN4	CDKL5	INSR	RRAS	AIP	ELN	RIT1	TMEM270	GTF2I	TBC1D24	NCF1	ZNF41	SLC6A1	KCNH1	RFC2	CHD2	KRAS	GDI1	C12orf57	LIMK1	FTSJ1	YY1	RPS23	DPF2	EIF4H	PSMB8	LTBP3	AMER1	DLG3	HECW2	AP2M1	NAGA	UGDH	RPS6KA3	CYP24A1	RNF135	FKBP6	ZBTB20	SPRED2	MID2	STX1A	SMARCC2	SMARCD1	EBF3	BAZ1B	SMARCA4	ANTXR1	FBN1	ABCC9	SLC9A7	FRMPD4	NEU1	ARX	RRAS2	BUD23	CUL4B	ALG13	RAB39B	HUWE1	CNKSR2	STEEP1	DNAJC30	ECM1	ATRX	SIN3A	LZTR1	GPR101	PHGDH	ORC1	GTF2IRD2	CA2	COL11A1	SOX4	CDT1	SMARCA2	SMARCB1	PIGL	AGTR2	VPS37D	RBMX	MRAS	KIF11	STRADA	DMD	ZEB2	ARHGEF6	BCL7B	NANS	SMG9	KMT2C	ARID1A	HRAS	MED12	SYNGAP1	PPP1CB	PTH1R	SMS	SLC2A1	IQSEC2	ACSL4	SETD1B	SCN1A	SOS1	UPF3B	SHOC2	FRMD4A	SYP	KIF15	TASP1	CUL7	FUCA1	SOX11	DYRK1A	CDH11	AGA	SMARCE1	ZNF711	PTCHD1	ARID1B	TSPAN7	USP27X	NRAS	CAMTA1	SOS2	ORC6	DEAF1	METTL27	IDS	TBL2	CLIP2	KCNN3	GLA	ZNF81	SRD5A3	CBL	PAK3	ACER3	MECP2	GTF2IRD1	EHMT1	RIN2	USP9X	RET	NEXMIF	HCFC1	ATP6V1B2	PTPN11
HP_LOBULATED_TONGUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOBULATED_TONGUE	MKS1	CPLANE1	TOPORS	CEP120	C2CD3	KIAA0753	OFD1	TCTN3	PDE6D	TMEM216	KIF7	FAM149B1	DDX59	TMEM231
HP_MOVEMENT_ABNORMALITY_OF_THE_TONGUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOVEMENT_ABNORMALITY_OF_THE_TONGUE	ALS2	GAA	EDN1	MTPAP	GIPC1	GNAI3	SBF2	SH3TC2	FRAS1	NOTCH2NLC	TUBB4A	PLCB4	ATP13A2
HP_DIFFICULTY_IN_TONGUE_MOVEMENTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFICULTY_IN_TONGUE_MOVEMENTS	ALS2	GIPC1	GNAI3	SBF2	GAA	SH3TC2	FRAS1	NOTCH2NLC	EDN1	PLCB4	ATP13A2
HP_CLEFT_SOFT_PALATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLEFT_SOFT_PALATE	ORC1	PTCH1	TGFB3	SUPT16H	SELENOI	TP63	ORC4	CDC6	B3GALNT2	GATA1	HYLS1	SMAD4	MSX2	SNRPN	SHH	SIX3	EIF4A3	TGIF1	STAG2	PIEZO2	DAG1	RPS23	PIGW	MED12	RPL18	RPS17	RPS7	TMEM231	AMER1	RXYLT1	KAT6B	XYLT1	RPS28	DDX59	COL11A2	UBB	MYLPF	CDON	RPL35	GRHL3	FOXH1	DLL1	FGF8	FGFR1	ZIC2	PIGL	TGFBR2	KIF14	RPL5	CUL3	GLI2	KMT2C	LARGE1	EDN1	CDH11	FGFR3	DDX3X	SMAD3	RPS27	NEK1	TDGF1	FGFR2	POMT1	FKTN	B4GALT7	RECQL4	MEG3	GAS1	RPS20	PGM1	ZEB2	STIL	PIGV	TBCE	SMC1A	RPL27	FGF10	SMS	TGFBR1	COL4A1	EYA1	RPL35A	KCNN3	RPS10	HAAO	SLC39A13	PLCB4	RPS26	TXNL4A	POMGNT2	NODAL	IFT140	MAP3K7	POLA1	RPS15A	GNB2	DISP1	IRF6	DLK1	SNRPB	CDC45	FKBP14	FTO	ZPR1	KCNK9	RTL1	ALG3	RPL15	SPECC1L	DYRK1A	SPEG	SMCHD1	RYR1	USP9X	GMNN	TBX22	COL2A1	PGAP3	FKRP	BIN1	SMPD4	BMP4	PGAP2	STAC3	POMGNT1	HNRNPK	RPL11	SON	TCTN3	NONO	RPL26	KIF7	POMK	COL11A1	GLI3	SIAH1	KCNH1	IGBP1	RPS24	SLC25A19	TBX1	SIX1	SEC23A	PIGO	TTN	CRPPA	TCOF1	PPP1CB	SATB2	ADA2	RPS19	PTDSS1	HYAL1	B4GAT1	DHCR24	GNAI3	TGFB2	IPO8	FLNA	POMT2	POLR3A	RPL31	PGAP1	SHMT2	SMARCD1	TTC37	SETD5	DLG3	RPS29	PIGY	TSR2	ALG9	CDT1	ATP6V1B2	DVL1	BGN	RNU4ATAC	ORC6	BCOR	AMMECR1
HP_BROAD_ALVEOLAR_RIDGES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_ALVEOLAR_RIDGES	RERE	FIG4	ARX	TBC1D24	GJA1	SETBP1	OFD1	DHCR7	DIS3L2	SH3PXD2B	ATP6V1B2	ASXL1	ZC4H2	VAC14
HP_SHORT_UPPER_LIP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_UPPER_LIP	FIG4	CTBP1	TWIST2	NSD2	CPLX1	FGFRL1	ATRX	AMPD2	EMC1	GRIA3	LETM1	VAC14
HP_NARROW_PALATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_PALATE	ORC1	CHD3	TGFBR1	ORC4	CDC6	CCDC28B	GIPC1	MAT2A	BRAF	DPM1	GPC3	KCNJ6	SLC6A17	HERC2	TBC1D24	APC	ABCC6	RARS2	ERF	SPRED1	MEGF8	FGFR2	RUNX2	ERCC3	GNE	VAC14	GPC4	MPLKIP	NEB	DDX59	AMER1	PTEN	CTSK	TWIST1	KANSL1	ANTXR1	GTF2E2	TGFBR2	CREBBP	CRKL	FOXP2	CCBE1	PCLO	BBS1	MFAP5	ARID2	PIGT	SLC25A24	NONO	TBCK	INTU	FGFR3	FZD2	DIS3L2	TECR	SMAD3	NAA10	ACTA1	ARL6	SETBP1	FBN1	SMG9	SKI	WASHC5	COPB1	SMS	OCRL	BRCA1	WNT7A	SPTBN1	TGFB2	NOTCH2NLC	CNTN1	NIPBL	SOX5	MED25	GTF2H5	POR	TARS1	TGFB3	MAPK1	COL12A1	MUSK	MAP3K7	ERCC2	BCOR	CPT2	MYH11	RPS6KA3	DVL1	CDC45	FIG4	ATP6V1B2	PLOD1	SPEN	LOX	ADAMTS10	ELN	SMARCA2	ASXL1	VPS13B	GMNN	NEK9	SLC25A46	PRKG1	HECW2	ACTA2	SCARF2	RAB18	NSD1	DVL3	COL3A1	KLHL41	KCNK9	RNF113A	HNRNPK	TCTN3	SH3BP2	ERMARD	CDK10	ELMO2	COL11A1	SIN3A	PIEZO2	IFT122	BMPR1A	UBE3B	BCR	CCDC22	MADD	TPM3	TBX1	SMAD4	WNT5A	PRUNE1	PTPN11	EP300	TAOK1	MAP2K1	TRPS1	SMAD2	HRAS	MED12	PTDSS1	ATP7A	PEX1	MED12L	ATN1	FOXE3	SLC35C1	IPO8	MYLK	ASXL3	MESD	MCM3AP	DPYSL5	GRIA3	TAF1	HEY2	TBX2	CDT1	PEX5	RECQL4	RET	AEBP1	LRP4	ORC6	TWIST2	NOTCH3
HP_ABNORMAL_ORAL_FRENULUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ORAL_FRENULUM_MORPHOLOGY	AFF3	CHUK	CD96	BCR	OFD1	TCTN3	PRKACB	RSPO2	PDE6D	FREM1	TMEM216	EFTUD2	SPECC1L	EVC	TBC1D24	DYNC2LI1	ROR2	C2CD3	TBX22	FAM111A	SPTBN1	RIPK4	POU4F1	FAM149B1	TBR1	CPLANE1	PRR12	TOPORS	COL7A1	KIAA0753	IFT140	SETD5	DDX59	TELO2	ZMPSTE24	KIF7	FLNA	SLC37A4	B3GLCT	MMP1	MAPK1	COL3A1	NXN	EVC2	GLI1	WDR35	IFT57	CRKL	LMNA	NEK1	PRKACA	GLI3	ATP6V1B2	MID1
HP_ACCESSORY_ORAL_FRENULUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACCESSORY_ORAL_FRENULUM	CPLANE1	CHUK	CD96	OFD1	DYNC2LI1	IFT140	PRKACB	C2CD3	DDX59	IFT57	TCTN3	EFTUD2	PRKACA	GLI3
HP_BIFID_UVULA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIFID_UVULA	ORC1	PTCH1	TGFB3	SUPT16H	SELENOI	TP63	ORC4	CDC6	B3GALNT2	HYLS1	SMAD4	SNRPN	SHH	SIX3	EIF4A3	TGIF1	STAG2	PIEZO2	DAG1	RPS23	PIGW	TMEM231	AMER1	RXYLT1	KAT6B	XYLT1	DDX59	COL11A2	MYLPF	CDON	GRHL3	FOXH1	DLL1	FGF8	FGFR1	ZIC2	PIGL	TGFBR2	KIF14	CUL3	GLI2	KMT2C	LARGE1	EDN1	CDH11	FGFR3	DDX3X	SMAD3	TDGF1	FGFR2	POMT1	FKTN	B4GALT7	RECQL4	MEG3	GAS1	RPL5	PGM1	ZEB2	STIL	PIGV	TBCE	SMC1A	FGF10	SMS	TGFBR1	COL4A1	EYA1	KCNN3	HAAO	SLC39A13	PLCB4	TXNL4A	POMGNT2	NODAL	IFT140	MAP3K7	POLA1	DISP1	IRF6	DLK1	CDC45	FTO	KCNK9	RTL1	ALG3	SPECC1L	SPEG	UBB	SMCHD1	RYR1	USP9X	GMNN	TBX22	COL2A1	PGAP3	FKRP	BIN1	SMPD4	BMP4	PGAP2	STAC3	POMGNT1	HNRNPK	SON	TCTN3	KIF7	POMK	COL11A1	GLI3	SIAH1	KCNH1	IGBP1	TBX1	SIX1	SEC23A	PIGO	TTN	CRPPA	PPP1CB	SATB2	PTDSS1	HYAL1	B4GAT1	DHCR24	GNAI3	TGFB2	IPO8	FLNA	POMT2	PGAP1	SHMT2	SMARCD1	TTC37	SETD5	DLG3	PIGY	ALG9	CDT1	ATP6V1B2	BGN	RNU4ATAC	ORC6	BCOR	AMMECR1
HP_OPEN_MOUTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPEN_MOUTH	PIGF	POGZ	RTL1	MLXIPL	CLTC	ADAM22	CCDC174	KCNJ6	BRAF	BCAS3	MTOR	MGAT2	KANSL1	CCDC88A	SNRPN	INPP5E	DPYD	VPS13B	AP1S2	TBC1D24	ZNHIT3	DGCR6	RPS23	HNRNPK	PIGN	ELN	KCNH1	FOXP1	RAI1	KCNK9	MEF2C	DGCR2	FAM149B1	PPP2R1A	NFIX	NEXMIF	PPP2R5D	EIF2S3	STRADA	NONO	LAMA2	REV3L	SLC9A6	HRAS	PURA	SIN3A	KIF7	RAC1	SLC35A2	FLII	DIS3L2	MEG3	MED13L	POMT2	DST	DEAF1	UNC80	GFM2	DENND5A	KIF1A	SOX11	ZEB2	DLK1	NKAP	CSNK2B	TET3	GBA	MED12L	SLC6A8	OCRL	PIGT	CHAMP1	TCF4	MBD5	ATN1	TFE3	TCF20	NRAS	TBX1	MED12	ASXL3	ATRX	ANKLE2	ZSWIM6	PUS7	GRIA3	AHI1	PAK3	DGCR8	PLXND1	SOX5	IQSEC2	EXTL3	PRKAR1A	AGO2	TMEM237	AKT1	RPS6KA3	MAGEL2	IL1RAPL1	OGT	TUBB4A	ESS2	ATP6V1B2	PDE4D	PARS2
HP_ABNORMAL_PAROTID_GLAND_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PAROTID_GLAND_MORPHOLOGY	TP63	CXCR4	FGFR2	PSMB8	FGF10	ATP2A2	TCOF1	BTNL2	FGFR3	HLA-DRB1
HP_TONGUE_NODULES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TONGUE_NODULES	CPLANE1	TOPORS	RBM10	OFD1	TCTN3	KIAA0753	PDE6D	TMEM216	KIF7	FAM149B1	ECM1	PRKAR1A	NEK1
HP_SHORT_LINGUAL_FRENULUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_LINGUAL_FRENULUM	ZMPSTE24	FREM1	LMNA	TBC1D24	B3GLCT	SPECC1L	WDR35	KIAA0753	ATP6V1B2
HP_PIERRE_ROBIN_SEQUENCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PIERRE_ROBIN_SEQUENCE	FLNA	ANKRD17	COL2A1	TBX1	RBM10	MAP3K7	MYMK	COL11A2	PGM1	SLC10A7	DGCR8	DGCR2	COG1	BMP2	SCUBE3	EIF4A3	DGCR6	COL11A1	ESS2	AMER1	SATB2
HP_ORAL_CLEFT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORAL_CLEFT	RERE	FAM50A	FKTN	OFD1	KAT6A	ZEB2	SHH	B3GALNT2	COL2A1	HYLS1	MSX2	GPC3	GATA3	OTX2	FANCC	CEP120	BCOR	HSPG2	TGIF1	CEP41	PIEZO2	TMEM67	NECTIN1	FAM149B1	PIGW	GREB1L	RUNX2	FANCF	ERCC4	PRRX1	FANCD2	RBM10	WNT10A	UBB	MYLPF	DYNC2H1	IRF6	B9D1	NODAL	TWIST1	CDON	CHRNG	CC2D2A	RAPSN	FGFR1	ESCO2	DEF6	HESX1	CRKL	CILK1	FRAS1	DDX59	SMC3	SEMA3E	CHST3	GNRHR	MBTPS2	MED25	DHODH	GMNN	B4GALT7	MEG3	CPLX1	FREM2	COLEC10	POLR1D	MAD2L2	PHF8	FANCA	STIL	HS6ST1	PTCH1	RPL27	TGFBR1	SIX3	YAP1	DSP	KDM6A	FAM20C	RPL35A	RAI1	SMOC1	ECEL1	DYNC2I1	RPS26	WNT4	NIPBL	FLNA	PSAT1	TBX1	DUSP6	NSMF	KCNA1	ZIC2	NUAK2	POLA1	TELO2	SMS	RPS15A	ALX3	MEIS2	DISP1	FGF8	GNB1	KCNN3	KATNIP	DHCR7	SOX10	TGFBR2	PIGN	STAMBP	CEP57	TMCO1	FTO	ESS2	ZPR1	GLI2	ARNT2	RPL15	RSPO2	RAD21	GRHL3	DCC	GLI3	C2CD3	LHX4	FGF20	LBR	INPP5E	ZMPSTE24	ERCC5	RIPPLY2	VAX1	CEP104	BRD4	CDH1	COL9A2	PIGL	SLC26A2	PEX5	GDF3	STAC3	TGDS	DGCR2	GAS1	EMG1	GMPPB	ZNF469	FANCE	SATB2	SLC2A10	TFAP2A	CHRND	PNKP	DLL1	SIAH1	IGBP1	SCN1B	SOX9	LOXL3	DEAF1	CRPPA	TAPT1	RPS19	PTDSS1	TMEM107	HYAL1	MASP1	PHF6	MKS1	TP63	GNAI3	CSPP1	TFE3	LRRC32	TRAPPC9	SLC29A3	POMT2	KISS1	TUBB	TRIP13	PGAP1	DVL3	SETD5	PROK2	COL11A1	MAPRE2	PRDM5	XRCC2	PLXND1	HNRNPK	SEPTIN9	PAX3	IFT172	ACTB	WNT7A	WDR35	ATP6V1B2	RECQL4	GJB2	BRCA1	MYOD1	SUMO1	KCNJ2	TCTN2	ORC1	PIGG	SUPT16H	PROKR2	HDAC8	ORC4	FLNB	RIPK4	FGF17	SNRPN	CTCF	CTBP1	STAG2	FGFR2	COL11A2	TGFA	NUP188	TBX22	FGD1	PEX7	TBC1D24	RPS28	CENPF	DDX3X	AMER1	CPLANE1	SIX1	CDKL5	CCDC32	TMEM237	RPL35	DLX4	FKRP	MESP2	RPL5	SCUBE3	WDR11	KMT2C	ACTG2	LARGE1	FGFR3	UFD1	EDEM3	MAMLD1	FOXP2	CDKN1C	ARID2	BRAF	BPNT2	BMP4	VANGL1	RPGRIP1L	HIRA	LMNA	CEP290	PALB2	PIGQ	ARHGAP29	MYH3	NUP107	EDNRA	WASHC5	COG1	FANCG	FGF10	DSE	SELENOI	ACBD5	ITGA8	SLC39A13	ARX	PITX1	TDGF1	MAP3K7	NSUN2	GDF6	KLHL41	MAPK1	LEMD3	MUSK	SEC24C	SNRPB	CDC45	COL9A3	TMEM231	KCNK9	B9D2	RTL1	ALG3	GAD1	NEB	SLC35D1	SOX2	TMEM216	G6PC3	EFTUD2	MAP2K1	FOXC2	EDARADD	MEGF10	FOXF1	PQBP1	PGAP3	SLX4	CREBBP	BIN1	COLEC11	LRP6	KIF7	POU1F1	TRPV4	TCTN3	POMGNT1	SMO	ANKRD11	MIR140	TXNDC15	ARID1B	CCDC22	PDE6D	COL9A1	SEC23A	UBE2T	NBN	TTN	SUFU	CHST14	TBX4	ARL3	ATN1	INTS1	JUP	GPC4	PPP3CA	RPL31	TTC37	SF3B4	RFWD3	SON	PLCB4	EARS2	DLG3	RPS29	EPG5	B3GLCT	RPL11	DGCR8	NEK1	TSR2	RREB1	IQSEC2	DVL1	RNU4ATAC	SIX5	ORC6	SMAD4	TGFB3	COMT	HOXA2	EPCAM	CDC6	GATA1	RAD51	RBM8A	AXIN2	SCN2A	ROR2	DAG1	SUCLG1	RPS23	NELFA	MED12	POLR1C	RPL18	AHI1	INTU	LETM1	EYA1	ARHGAP31	NDNF	KANSL1	FOXH1	WNT10B	CHD7	MTHFR	DLG1	EDN1	EIF2S3	SALL4	FANCL	TBX6	SMAD3	PTCH2	GNAO1	PLAG1	FOXE1	MID1	ZSWIM6	PHGDH	SMC1A	NEDD4L	PTPN11	EFNB1	MEOX1	BUB1B	SLC10A7	SMG9	TBCE	KIAA0586	COL4A1	RPS10	WDR26	POMGNT2	EBP	TOPORS	GJA1	MSX1	IFT140	NPHP1	FLRT3	PIGV	NXN	DLK1	NSD2	FANCB	FKBP14	ARL6IP6	FANCI	ANKRD17	TACR3	ASXL1	POLR2A	SPEG	TRRAP	SMCHD1	RYR1	USP9X	POMT1	SMARCA2	INPPL1	LIG4	PRR12	BICRA	KIAA0753	DOK7	MYMK	SMPD4	HMGA2	ATR	PGAP2	PAX9	CCDC141	SIK1	NONO	REV3L	RAD51C	POMK	TCTN1	BMPER	GRM7	TCOF1	NFASC	DLL3	EVC	DMXL2	CD96	KCNH1	FLII	RPS24	KISS1R	CASK	WNT5A	PPP1CB	ADA2	MKKS	LMX1B	WNT9B	NUP88	DHCR24	BUB1	FUZ	ARL13B	POLR1B	TAC3	PIGO	CHRNA1	BRCA2	WBP11	TBX2	EDA	GRIP1	CDT1	GP1BB	AMMECR1	FGF9	KAT5	GDF11	DONSON	NEUROD2	MCTP2	MT-CYB	EIF4A3	XYLT1	SPECC1L	DGCR6	SPRY4	IGF2	RPS17	RPS7	RXYLT1	KAT6B	PUF60	KMT2D	PIBF1	SPOP	LARS2	FEZF1	EXOC6B	ARCN1	ARVCF	KIF14	FOXA2	CUL3	HOXD13	CDH11	NOTCH2	RPS27	RET	STAT3	FZD2	POLR1A	VANGL2	SEMA3A	RPS20	PGM1	B3GALT6	LFNG	CYP26C1	CHSY1	HAAO	SOX3	TXNL4A	IL17RD	GNB2	NAA10	RPGRIP1	ANOS1	PORCN	BUB3	ACTG1	RPL26	IFT57	NSDHL	WNT3	MAFB	RIC1	CHN1	MAF	FANCM	CHUK	TRIM8	ALX1	RB1	FGFRL1	CTNND1	DYRK1A	STAG1	BRIP1	PPP2R5D	SOX6	DYNC2I2	LMBRD1	CBY1	B3GAT3	PROP1	SCARF2	KRAS	HS2ST1	EVC2	GNRH1	SLC18A3	MECOM	JMJD1C	BCR	AR	SLC25A19	ARMC9	SH2B1	DPH1	HES7	IKBKG	TBX15	B4GAT1	MAP2K2	TBR1	TGFB2	IPO8	POLR3A	ALX4	SHMT2	SMARCD1	CARS1	DLX5	PIGY	IFT80	EIF5A	ALG9	PIGP	KIFBP	PEX2	SLC25A22	NFIX	BGN	ZC4H2
HP_CLEFT_UPPER_LIP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLEFT_UPPER_LIP	KAT5	PIGG	SUFU	PTCH1	FKTN	OFD1	GDF11	PROKR2	SHH	FLNB	HYLS1	SMAD4	RIPK4	GPC3	ESCO2	SMOC1	SIX3	TGIF1	CTBP1	STAG2	NECTIN1	NELFA	MED12	GREB1L	TFAP2A	POLR1C	AMER1	GPC4	FGD1	LETM1	DDX59	FAM20C	DYNC2H1	SPOP	IRF6	ARHGAP31	TP63	CDON	KANSL1	FOXH1	DLX4	DLL1	CC2D2A	FGF8	FKRP	NSD2	SEMA3E	FGFR1	ZIC2	CHD7	FOXA2	GLI2	HOXD13	ALX3	COLEC11	CILK1	DDX3X	FRAS1	PTCH2	NEK1	HESX1	TDGF1	RET	MEOX1	ZSWIM6	PHGDH	INTU	DHODH	FZD2	RPGRIP1L	GAS1	CPLX1	FREM2	COLEC10	RPL5	POLR1D	STIL	SMC1A	YAP1	CYP26C1	NBN	ITGA8	OTX2	DYNC2I1	NIPBL	TXNL4A	GJA1	MSX2	NODAL	NUAK2	PIGV	NAA10	MEIS2	DISP1	JUP	MKS1	PORCN	POMT2	BCOR	PIGN	NSDHL	TMCO1	DVL1	MASP1	CHUK	RSPO2	FGFRL1	CTNND1	GRHL3	GLI3	SPECC1L	ASXL1	FOXC2	ACTB	LHX4	FGF20	POMT1	DYNC2I2	PROP1	VAX1	CDH1	SMPD4	DVL3	POU1F1	RPS19	EFNB1	RAI1	SMO	TGDS	TCTN3	POLR1B	EVC2	KIF7	SLC2A10	TCOF1	EVC	B3GALT6	FLII	DEAF1	WNT5A	PHF8	TAPT1	LMX1B	WNT9B	MSX1	SUMO1	MID1	TRAPPC9	SLC29A3	B3GLCT	SF3B4	EPG5	IFT80	TCTN2	CPLANE1	WNT3	PAX3	IQSEC2	GRIP1	WDR35	LARGE1
HP_PURSED_LIPS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PURSED_LIPS	MYH3	NALCN	LIFR	HSPG2	MYLPF
HP_GLOSSITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLOSSITIS	PTPN22	LMBRD1	CUBN	P4HA2	HLA-DRB1	SLC39A4	SLC6A19	AMN	MMACHC	SLC46A1	HLA-B	CLTRN
HP_TRIANGULAR_MOUTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRIANGULAR_MOUTH	BUB1B	COLQ	NXN	GTPBP2	DVL3	PIGA	LAMB2	WNT5A	NCAPG2	TFAP2B	ROR2	DVL1	ERCC2	SNRPN	INPP5E	PPP1CB	KIF7
HP_TRISMUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRISMUS	COL2A1	MYH8	EDNRA	HSPG2	LIFR	PNKD	PRRT2	SF3B4	MYMK	CRLF1	GBA	TPM2
HP_GINGIVAL_OVERGROWTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GINGIVAL_OVERGROWTH	AFF3	IDS	MLXIPL	TBC1D2B	DHCR7	BCOR	ATP6V1B2	TBCK	ROR2	TRIM8	KCNJ6	INSR	PLG	MGAT2	STAT3	GPC3	AGA	NFIX	ELN	DDR2	RARA	TMEM270	GTF2I	TBC1D24	NCF1	MAN2B1	LMNB1	KCNH1	RFC2	FAT4	ZNHIT3	LBR	LIMK1	OSTM1	GLB1	EIF4H	KCNK4	GNAQ	ANTXR2	FAM20A	ADAMTS3	PML	GPC4	IER3IP1	MMP2	REST	FKBP6	STX1A	STAT5B	FAM20C	PRMT7	DVL3	ABCC9	BAZ1B	FGFR2	COL3A1	SOS1	NEU1	VPS13B	RIN2	PLAGL1	NABP1	ADAMTS2	CNTNAP1	USP9X	BUD23	ATG7	CCBE1	RMRP	IDUA	DNAJC30	SC5D	CD96	GTF2IRD2	FZD2	NUMA1	RALGAPA1	PRKAR1A	VPS37D	AIMP2	WNT5A	DVL1	ABCA5	KIF1A	ZEB2	BCL7B	FGF3	EMC1	PIGS	TBL1XR1	ASXL3	SLC35C1	GUSB	SLC29A3	IRF2BP2	SLC17A5	HYMAI	PIGA	NPM1	MYSM1	FIP1L1	MMP14	SH3PXD2B	PIGN	NXN	METTL27	TBL2	CLIP2	KCNN3	EXTL3	GTF2IRD1	C1S	TMCO1	KCNMA1	MAP1B	ZBTB16	C1R	GNPTAB
HP_THICK_UPPER_LIP_VERMILION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICK_UPPER_LIP_VERMILION	WDR26	SPATA5L1	APC	THOC6	ABCC9	TOE1	COL11A1	SC5D	NAA10	VPS51	NOG	BRCA1	KDM4B	RPS7	TWIST2	EBF3	GPC4	STRADA	NSUN2	PAK3	MINPP1	DENND5A
HP_XEROSTOMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_XEROSTOMIA	CFAP410	PFN1	PPARGC1A	SLC12A2	FUS	CHCHD10	PRPH	VCP	NOD2	TAF15	FGFR2	TREM2	C9orf72	TP63	LBR	PON1	SOD1	CCR6	FGF10	IRF5	ATXN2	OPTN	NEFH	TBK1	SCN9A	ANXA11	GSN	CCNF	CHRM3	GLT8D1	EPHA4	SIM1	DCTN1	PON3	ANG	FGFR3	CHMP2B	CAV1	GLE1	FIG4	DAO	UNC13A	SQSTM1	CCN2	CLDN10	VAPB	HNRNPA1	NEK1	PON2	HLA-DRB1	ERBB4	MAGEL2	TARDBP	UBQLN2	EDARADD	MATR3
HP_HIGH_PALATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_PALATE	RERE	OFD1	NTNG2	MECP2	MYO9A	AGRN	PYROXD1	BRAT1	CCDC28B	DLK1	MAT2A	RRAS	DPM2	RIT1	KLHL41	FANCC	PEX3	HSPG2	CHRNE	COL6A2	TGIF1	FBN2	TRIP12	CDH2	MED27	TCF3	FAM149B1	PIGW	RUNX2	ZMPSTE24	ERCC3	FANCF	CTU2	ERCC4	FANCD2	PAH	BIN1	RNASEH1	FH	MYH7	MYLPF	DSE	SLC2A10	TWIST1	CDON	CHRNG	TRIP4	RAPSN	MYCN	FGFR1	NSDHL	COLQ	COL1A2	TGFBR2	ESCO2	EMC10	TOGARAM1	CRKL	LMNA	PCLO	SC5D	SMC3	TNNI2	ERLIN2	PTPN23	SDHD	TPM3	HPGD	SNX14	LRRC8A	NAA10	IGHM	MEG3	STAT3	AEBP1	FREM2	GFPT1	SDHC	POLR1D	NEFL	EFEMP2	ATP6V1A	MAD2L2	SHANK3	RYR1	FANCA	ALG3	SETBP1	STIL	SKI	CLCN3	PEX6	COPB1	RPL27	SMC1A	NCDN	IBA57	WNT7A	SIX3	SPTBN1	HRAS	CHRNA1	KDM6A	CHAMP1	FBXW11	WDFY3	COL6A3	DDX6	FAM20C	RPL35A	SMOC1	TCF20	RPS26	NIPBL	CD96	PTCH1	PSAT1	PEX12	ZIC2	RTL1	TARS1	SMS	RPS15A	IGF2	MRPL12	HYOU1	SEMA5A	BCORL1	DISP1	RLIM	ZDHHC9	KCNN3	MAP3K7	ALDH6A1	AKT1	CREBBP	BCOR	RAB3GAP2	PIGN	MYH11	RPS6KA3	TMCO1	MYT1L	PEX16	USF3	FIG4	PLOD1	SPEN	RPL15	PDHX	ADAT3	DBH	RAD21	PLAA	COX14	COL13A1	ELN	RAB3GAP1	VPS13B	GMNN	KCNH1	KRAS	DHX30	FARSB	MYPN	QRICH1	FRAS1	KMT2E	UBE3B	SIK3	FGFR2	PEX26	PIGB	BRD4	FGF8	NSD1	HPDL	SLC26A2	CDK19	RUSC2	STAC3	PIK3CA	KCNK9	GAS1	KLLN	PMM2	DPAGT1	FANCE	SATB2	TFAP2A	PUS1	TCF7L2	PHIP	PUS7	TLK2	DLL1	SPATA5L1	LGI4	CLCF1	SIAH1	PEX14	SELENON	IGBP1	GNE	SYNCRIP	PTEN	AASS	DST	SMAD4	CRLF1	EP300	AGO2	SMAD2	IGF1R	RPS19	PTDSS1	HACD1	CBS	OSGEP	PIGT	CFL2	EIF2AK3	PIGU	MYLK	ACTA1	HYMAI	MESD	DOCK3	AP4M1	YARS1	TAF1	HEY2	XRCC2	PLXND1	HNRNPK	KAT8	NUP88	SETD1A	PEX5	WDR35	AFF4	ATP6V1B2	RECQL4	GNB1	BRCA1	TNNT3	LRP4	PYCR2	TWIST2	KCNJ2	PTPN11	ORC1	APC	TTN	TPM2	HDAC8	ORC4	CLTC	PURA	SNRPN	PIEZO2	KDM4B	SLC6A17	DOK7	EBP	RAF1	STAG2	SPRED1	MEGF8	HSPA9	LRP12	NUP188	KBTBD13	MTM1	TMEM216	INSR	SCN4A	TBC1D24	RPS28	NEB	VPS51	AMER1	RPL35	AP4B1	NALCN	ANTXR1	LZTR1	PIGL	RIN2	SHOX	RPL5	TNRC6B	GLI2	EDEM3	SEC24D	FOXP2	EXOC7	ECM1	ARID2	BRAF	TWNK	SYT2	DIS3L2	KLHL7	PALB2	CHAT	ARL6	COG1	ATP6V1E1	NUP107	MUSK	WASHC5	FANCG	FBN1	SOS1	ACTL6A	CNTN1	MSTO1	SLC39A13	CPLANE1	HERC1	SHH	TDGF1	DDHD2	GSC	NSUN2	MYL2	TGFB3	MAPK1	NRAS	SOS2	ERCC2	MT-TE	PAFAH1B1	CDC45	CD79B	NODAL	HS2ST1	ANKRD17	MYH3	PEX1	SRCAP	POGZ	FGFR3	HSD17B4	G6PC3	PEX11B	ACTN2	SATB1	MAP2K1	VAMP1	MEGF10	TAB2	NEK9	SPTBN4	KMT2A	OCLN	SPEG	PGAP3	CHST3	SLX4	TUBB	PIGY	DVL3	KIAA1109	HBA2	KIF7	NOTCH2	TCTN3	MIR140	EFL1	KPTN	RRAS2	AP4S1	ERMARD	LTBP2	CUL4B	ARID1B	COL11A1	SIN3A	ATP6V0A2	ARHGEF2	CCDC22	SEC23A	SVBP	PCGF2	YARS2	PDE6D	COL12A1	MED13L	FOXL2	UBE2T	TAOK1	PEX2	CHST14	TBX4	MED12L	GEMIN4	ZNF292	ASXL3	ATN1	WASF1	ANOS1	SEC31A	GPC4	NDUFA8	ZMYM2	RPL31	COL2A1	CTNND2	ALG2	MED12	RFWD3	SON	DLG3	RPS29	AK9	TSR2	TOE1	DDX11	ODC1	MN1	CBL	SH3PXD2B	OTUD6B	RET	TRIO	ORC6	CHD3	TGFBR1	ZMIZ1	CDC6	FLCN	TRMT1	GATA1	GIPC1	RAD51	DPM1	COL6A1	KCNJ6	MAMLD1	FRMPD4	YY1	RPS23	ZBTB24	POLR1C	RPL18	SET	MPLKIP	SLC25A1	CTBP1	DDX59	LOX	KANSL1	FOXH1	DDR2	OBSL1	GTF2E2	ARX	ACTL6B	ATG7	MADD	MYO18B	FANCL	DPYSL5	SMAD3	NEK1	GLE1	MID1	SLC25A24	KDM5C	TBCK	ITGA7	CA2	ABCC6	FUT8	COX6A2	EFNB1	LMOD3	MAPK8IP3	MRAS	HNRNPU	KCNMA1	WDR4	SLC10A7	MTX2	WDR73	SMG9	COL5A1	MYOD1	TGFB2	ABL1	BPTF	RPS10	TASP1	SLC17A5	TOPORS	CHRNB1	IFT140	MED25	POR	ATRX	AP4E1	MAP3K20	RAB18	MFAP5	IGLL1	RBM10	CPT2	FANCB	CCDC32	FAT4	DVL1	SNRPB	MAP1B	FANCI	PRMT7	HBA1	ATP7A	ALG14	EPG5	GPC3	FBXL3	POLR2A	SMARCA2	ENPP1	AP1G1	SLC12A2	UBR7	PRKG1	LIG4	BICRA	SPRED2	KIAA0753	MYMK	SLC5A7	IRX5	GRIA4	BMP4	CASK	ATR	PGAP2	PLAGL1	TGDS	CNTNAP1	FLNA	NONO	REV3L	RAD51C	CDK10	FLNB	TCOF1	ADARB1	BMPR1A	RPS24	HNRNPH2	TBX1	LAGE3	WNT5A	ATAD1	PPP1CB	ADA2	MKKS	CHRND	COG5	FN1	RNF2	TRPS1	NTNG1	EXOSC9	ANKRD11	CNOT3	H19	BRCA2	GRIP1	CDT1	GBA	YWHAE	PQBP1	NFIX	GATAD2B	NOTCH3	MOGS	SRY	ADAM22	CNOT1	CD79A	EIF4A3	PSMD12	ZNF341	MED13	CTSK	BLNK	RPS17	RPS7	VAC14	PGM3	IER3IP1	KMT2D	SPOP	CEP152	EXOC6B	ARCN1	SNAP25	PAX7	HUWE1	MYL1	SLC12A6	TAF6	RPS27	BBS1	ZNF699	AP1S2	TANC2	SLC35A2	INTU	FZD2	LAMB2	BCAS3	SHOC2	GNPAT	RPS20	PALS1	BMP2	PIGV	TET3	B3GALT6	TBC1D20	PAX1	PEX19	CTNNB1	EYA1	SURF1	TUBB3	SP7	DHPS	NOTCH2NLC	MYBPC1	UPF3B	GTF2H5	GNB2	PEPD	PTPN14	RASA2	FANCM	SEC23B	PIK3R1	DCHS1	ANK1	SPECC1L	DPYD	STAG1	CCDC47	LMBRD1	PPP2CA	BRIP1	PUM1	PPP2R5D	AIFM1	PEX10	PEX13	SOX6	HTT	HECW2	ACTA2	SCARF2	GMPPB	RAB23	COL3A1	RNF113A	SYNGAP1	RPL11	CLP1	SLC18A3	POLR1B	USP9X	LMBRD2	RPL26	DMXL2	GATA4	MT-TN	MINPP1	IFT122	BCR	PIGH	NF1	MYH2	SIX1	PIGO	WARS2	KCNJ5	RRM2B	MAP2K2	FOXE3	IPO8	ZC4H2	CSNK2A1	PIGA	CDH11	SMARCD1	THOC2	MCM3AP	PAK3	UBA1	PPP1R21	SDHB	TRAPPC4	SMCHD1	JARID2	TRMU
HP_THIN_UPPER_LIP_VERMILION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIN_UPPER_LIP_VERMILION	SMAD4	UNC80	KAT6A	RPL10	RAI1	RALA	RAD21	VPS35L	NALCN	CLTC	ARID2	ROR2	ZBTB18	CLCN4	PGAP3	NDN	ATIC	HK1	DPM2	SNRPN	PIEZO2	ASPM	CDC42	FBN1	MCTP2	FIG4	TBC1D24	CTCF	ZNF41	CHD2	MAPK8IP3	GDI1	FTSJ1	KDM1A	CDH2	CNOT2	GNE	AP2M1	PUF60	CEP63	CEP135	MAN1B1	ALG12	VPS51	IRF6	SRCAP	EBF3	SMARCA4	KNL1	PACS1	STIL	SLC9A7	CDK6	TRPS1	EDEM3	MYO18B	CRKL	HUWE1	PTRH2	CNKSR2	TAF6	DDB1	SLC26A2	CTNNB1	ADNP	MED13	SLC25A24	PACS2	NONO	WAC	SMC1A	KATNB1	SOX4	TBL1XR1	METTL5	RHOBTB2	SMARCB1	FAR1	PPP1R15B	SMARCC2	EP300	CACNA1C	DMD	ARHGEF6	COG1	BMP2	SETBP1	SYNGAP1	PPM1D	TRAPPC9	SLC2A1	OCRL	ARID1A	IQSEC2	SPTBN1	DSE	CPLX1	ACSL4	COPB2	CLCN6	TCF20	PDGFRB	MKRN3	IFT43	PITX2	PMM2	SYP	KIF15	NIPBL	TASP1	SETD5	EXT1	SOX11	BPTF	MED12	DYRK1A	ZNF407	TMEM94	PDE4D	SMARCE1	ZNF711	ATRX	AGL	PIGV	TRAPPC14	WDR62	ARID1B	POGZ	TSPAN7	GNB2	KIF14	SYT1	MAPK1	STAG2	MTOR	PIGN	LAS1L	NPAP1	ACTG1	PIGG	PWAR1	USP9X	CDK13	NEXMIF	OCA2	ATP6V1B2	EXOC2	MAGEL2	SMC3	ADSL	MAF	ANKRD17	PBX1	AFF3	SPEN	CCNQ	IL1RAPL1	GAD1	SPECC1L	TRRAP	LMBRD1	CENPJ	SLC6A1	CIT	GATAD2B	PPP2R5D	KMT2A	DPF2	QRICH1	CLCN3	MCPH1	DLG3	OFD1	STEEP1	UBE3B	KDM5C	CREBBP	RNF135	TNRC6B	SIM1	MID2	SMPD4	ADGRG6	KCNJ2	BCL11A	SMARCD1	DCPS	GLIS3	MPC1	TAF1	OPHN1	B4GALT1	CLP1	CHST14	HS2ST1	AP3B1	FRMPD4	ANKRD11	ARX	WDR19	MFSD2A	ALG13	RAB39B	CDK10	RNU4ATAC	TAF13	ADARB1	ARHGEF2	HDAC8	BCR	BCL11B	PCGF2	PYCR2	CEP152	SEC23A	AGTR2	HERC2	TUBGCP2	WARS2	KIF11	DVL1	PPP1CB	SATB2	SASS6	KCNJ5	IGF1R	MED12L	TRMT10A	NOG	PWRN1	SMARCA2	ZNF292	ASXL3	MBD5	SCN1A	UPF3B	ATN1	RPS6KA3	MID1	SNORD115-1	PIGU	POLR3A	NFIA	PHC1	CSNK2A1	FOXG1	CDH11	SHMT2	KDM3B	B3GLCT	NAA10	PSMD12	PTCHD1	CDK5RAP2	USP27X	PIGQ	PAK3	EIF5A	ALG9	PURA	PRKDC	ODC1	ZNF81	ANKLE2	ACTB	OTUD6B	WNT5A	AGO2	NCAPD3	SH3PXD2B	SNORD116-1	MECP2	AFF4	KCNMA1	OGT	PQBP1	AMMECR1	HCFC1	PIGK	EXOSC2
HP_VELOPHARYNGEAL_INSUFFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VELOPHARYNGEAL_INSUFFICIENCY	TP63	TBX1	SIAH1	BICRA	IRF6	RAD21	SF3B4	UBB	RLIM	NECTIN1	MSX1	DGCR8	DGCR2	BMP4	TUBB6	ARHGAP29	THOC6	DLG1	GRHL3	DGCR6	DLX4	RAI1	NEK1	ESS2	CDH1
HP_FURROWED_TONGUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FURROWED_TONGUE	RERE	GPC4	B9D2	SEC23B	KDM5C	GJB2	SDHD	INSR	PIK3CA	SOX5	MED25	SLC39A4	KRT6A	CC2D2A	B9D1	CSPP1	ABCC9	PTEN	CEP290	TMEM237	RPGRIP1	AKT1	GPC3	SDHC	TMEM216	TCTN3	HNRNPK	RAB3GAP1	SDHB	TMEM107	KLLN	RAB3GAP2	TCTN2	TXNDC15	IL36RN	TCTN1	TMEM67	ECEL1	USF3	TMEM231	RPGRIP1L	MKS1
HP_ABNORMALITY_OF_TASTE_SENSATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_TASTE_SENSATION	RETREG1	SLC39A4	KIF1A	ELP1	SCN9A	WNK1
HP_GINGIVAL_BLEEDING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GINGIVAL_BLEEDING	SCARB2	FGA	NUMA1	WAS	F10	BCOR	TERT	PRKAR1A	STAT3	FGB	ITGB3	PRF1	RARA	HPS1	BLOC1S5	GBA	TERC	F5	LYST	IFNG	TET2	FGG	GP9	KIF23	TBL1XR1	SBDS	ITGA2B	F8	GP1BA	F13B	PML	IRF2BP2	BLOC1S3	STAT5B	GP1BB	NPM1	F7	FCGR2C	FIP1L1	C1S	C1R	CAT	MCFD2	MPL	ELMO2	NABP1	ADAMTS2	F13A1	SERPINF2	WIPF1	F2	JAK2	LMAN1	ZBTB16	IL18BP	MYD88
HP_GINGIVITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GINGIVITIS	ALMS1	STAT3	PLG	GJB2	KRT6A	SLC37A4	NCF1	GFI1	CYBA	CYBB	CD40LG	PLEKHM1	COL3A1	FERMT1	NCF2	SAMD9	CAT	OCRL	CYBC1	GJB6	ELANE	IRF9	CTSC	LYST	NCF4	SRP54	ITGB2	TCIRG1	B4GALT7	CLTRN	SLC6A19
HP_THIN_VERMILION_BORDER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIN_VERMILION_BORDER	SMAD4	NTNG2	UNC80	KAT6A	CITED2	RPL10	ZMIZ1	TBCE	DDRGK1	NALCN	TRMT1	BRAT1	CLCN4	NDN	SRCAP	TWIST2	MGAT2	HK1	DPM2	CKAP2L	CDC42	FBN1	NKX2-5	AMMECR1	ACTB	NKX2-6	DOCK3	MAPK8IP3	KDM1A	RPS23	CDH2	MED27	HDAC4	AP2M1	CEP63	ALG1	MAN1B1	GATA4	MYLPF	IRF6	PRMT7	ZMPSTE24	WDR19	EBF3	SMARCA4	PACS1	EVC2	STIL	ACTL6B	EMC10	MYO18B	CRKL	LMNA	DPYSL5	SLC26A2	SMC3	SLC25A24	PTPN23	PACS2	TRIP12	WAC	SMC1A	KATNB1	RHOBTB2	SMARCB1	HNRNPU	KCNMA1	ARHGEF6	SETBP1	NDP	PPM1D	SLC2A1	ARID1A	IQSEC2	SPTBN1	KNSTRN	CPLX1	DYNC2LI1	COPB2	FBXW11	WDFY3	NF1	TCF20	PDGFRB	MKRN3	BPTF	SMOC1	PMM2	NIPBL	TASP1	SOX11	MED12	TMEM94	PDE4D	SCYL2	ZNF711	ATRX	AGL	PIGV	WDR62	ARID1B	POGZ	KIF14	SMARCE1	SYT1	MTOR	PIGN	BCORL1	RLIM	NPAP1	PTRH2	FLT4	SLC45A1	CCDC32	USP9X	TBL1XR1	CDK13	NEXMIF	MYT1L	FIG4	OCA2	ATP6V1B2	FAR1	MAGEL2	ANKRD17	PBX1	SPEN	CCNQ	PIK3CD	RAD21	LEMD3	TRRAP	SMARCA2	SNRPN	CENPJ	SLC6A1	SLC12A2	CIT	LIG4	QRICH1	UBR7	KMT2E	MCPH1	DLG3	BMP1	STEEP1	UBE3B	TNRC6B	BRD4	MYMK	SMPD4	GRIA4	ADGRG6	HPDL	KCNJ2	SMARCC2	SMARCD1	DCPS	GLIS3	RUNX2	XYLT2	B4GALT1	SON	AP3B1	FRMPD4	ZBTB18	GATA5	RAB39B	NBAS	CDK10	TCF7L2	RNU4ATAC	KIF7	ADARB1	PHIP	PUS7	HDAC8	CD96	BCL11B	GDF1	GNE	SYNCRIP	PYCR2	AGTR2	MAF	TUBGCP2	KIF11	DVL1	PPP1CB	SATB2	IARS2	SASS6	AGO2	IGF1R	ARX	NOG	SCN1A	RNF2	SNORD115-1	PIGU	NTNG1	NFIA	KDM3B	B3GLCT	NAA10	SETD5	PSMD12	CNOT3	UBE2A	USP27X	TAF1	PIGQ	PURA	THOC6	PRKDC	KAT8	KCNE5	SETD1A	ZNF81	ANKLE2	TRPS1	KMT2A	OTUD6B	WNT5A	PAK3	SNORD116-1	MECP2	AFF4	PQBP1	PIGK	EXOSC2	GATAD2B	RAI1	RALA	VPS35L	CLTC	ARID2	ROR2	PGAP3	ATIC	XRCC4	PIEZO2	ASPM	KDM4B	MCTP2	TBC1D24	CTCF	ZNF41	MED13	CHD2	GDI1	SPECC1L	FTSJ1	CNOT2	ACTG1	CLCN3	HMGA2	VAC14	PUF60	CEP135	ALG12	VPS51	SPOP	TTI2	KNL1	LMX1B	KDR	SLC9A7	GLI1	CDK6	CDH11	NOTCH2	EDEM3	KDM5B	HUWE1	IDH1	CNKSR2	TAF6	DDB1	RAB3GAP1	CTNNB1	TANC2	ADNP	NONO	SC5D	SOX4	DDX6	METTL5	COL3A1	JAG1	BCAS3	PPP1R15B	EP300	MADD	CACNA1C	ACSL4	DMD	PALS1	COG1	BMP2	SYNGAP1	TRAPPC9	OCRL	ERCC6	DSE	CLCN6	ACTL6A	SHOC2	IFT43	PITX2	SYP	KIF15	TXNL4A	EXT1	DYRK1A	ZNF407	STXBP1	EVC	TRAPPC14	TSPAN7	GNB2	HS6ST2	MAPK1	STAG2	LAS1L	TBX1	PIGG	PWAR1	HS2ST1	EXOC2	ADSL	AFF3	IL1RAPL1	GAD1	SATB1	LMBRD1	PPP2R5D	DPF2	HTT	OFD1	KDM5C	TALDO1	CREBBP	RNF135	SIM1	MID2	BCL11A	MPC1	OPHN1	FMR1	CLP1	CHST14	ANKRD11	MFSD2A	ALG13	LMBRD2	SIN3A	ZFPM2	TAF13	ARHGEF2	BCR	MPDU1	SEC23A	SVBP	PCGF2	CEP152	HERC2	WARS2	GLUL	KCNJ5	PPP2R3C	BANF1	MED12L	TRMT10A	PWRN1	ZNF292	ASXL3	MBD5	UPF3B	ATN1	WASF1	RPS6KA3	MID1	GJA1	POLR3A	GJA5	PHC1	CSNK2A1	FOXG1	SHMT2	PTCHD1	GATA6	CDK5RAP2	PYCR1	EIF5A	ALG9	ODC1	NCAPD3	SH3PXD2B	TRAPPC4	METTL23	OGT	JARID2	HCFC1
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	NDE1	ELN	FAM111A	COMT	KAT6A	COLEC10	ALX4	CDC6	ALDH18A1	RTTN	PDX1	MSX2	KANSL1	CDKN1C	RAC3	GPC3	IL6ST	TCIRG1	FGFR3	INS	CEP120	ACTB	PEX3	HSPG2	KCNQ1OT1	ERF	KRT5	TSHR	YY1	PEX19	AHDC1	RUNX2	ZMPSTE24	AGT	ERCC3	AMER1	TCF12	GPC4	INTU	MPLKIP	COX5A	ERCC2	LRP2	MMP2	RBM10	ALG1	GCK	CTSD	WDR19	TWIST1	FGFR1	CTSK	RSPRY1	LRP5	MYCN	DMP1	GTF2E2	PEX14	GORAB	NFIX	ESCO2	FOXE1	TOGARAM1	SHPK	COLEC11	FGFR2	TG	ATP7A	FOXG1	SC5D	CHST3	MID1	CHD4	SLC25A24	TBCK	HPGD	NAA10	B4GALT7	RECQL4	ERCC1	NLRP3	GLI3	STAT3	EFNB1	WDR35	HNRNPU	ATP6V1A	MTX2	ZEB2	PPP2R1A	CYP26B1	SMG9	COG4	SKI	CLCN3	PEX6	TGFBR1	SPTBN1	HRAS	PEX1	DDX6	IYD	FAM20C	FLNA	NEPRO	EBP	PEX12	IFT140	POR	KIF1A	TARS1	PRDM16	IFITM5	IGF2	NKX2-1	IFT43	SMAD3	PLOD2	MTOR	POU1F1	KCNJ11	RNU4ATAC	TGFBR2	COL1A2	CREBBP	GNPTAB	COL11A1	RPS6KA3	TMCO1	FAT4	PEX11B	AKT1	MAP1B	PEX16	FIG4	ATP6V1B2	CENPJ	ZIC1	ASXL1	ENPP1	RERE	KLHL41	TENT5A	TBX1	GMNN	PEX13	VARS1	LIG4	ADAMTS3	BMP1	MEGF8	NKX2-5	PEX26	BICRA	PAM16	IRX5	BMP4	ATR	PEX5	GLIS3	OTUD5	RPS19	RETREG1	ETFB	SON	HNF1B	PLAGL1	PHEX	TSHB	POLA1	CYP2R1	KRT14	AGTR1	SLC2A10	KIF7	ADARB1	TLK2	NEB	SNX10	PPIB	SLC34A3	AASS	MAF	ATRX	THRA	DVL1	PPP1CB	TAPT1	SLC26A4	SMO	CCNQ	PTDSS1	ARX	MASP1	TBCE	ZFHX4	IL11RA	ZNF462	EP300	KLHL40	HYMAI	MESD	FREM1	PIGO	PSAT1	PYCR1	DLK1	ACE	FLNB	COL25A1	ATP6V0A2	PIGQ	COL1A1	H19	HNRNPK	CDT1	CEP57	ETFA	GP1BB	WNT5A	AGO2	AFF4	CDK8	NOTCH3	ORC1	LMOD3	DONSON	ORC4	KRAS	VPS35L	KDM4B	SOX9	PURA	ROR2	IFT122	ETFDH	FKBP10	INPPL1	TBC1D24	CTCF	CEP152	SLC39A8	ACTG1	SLC12A6	COL11A2	NUP188	VAC14	PROP1	HSD17B4	PRKCZ	DCHS1	UBE4B	ANTXR1	LMX1B	ARVCF	LMNA	SCUBE3	USP7	HOXD13	CDH11	ALPL	NOTCH2	VDR	UFD1	KDM5B	HUWE1	SEC24D	RNF125	CCBE1	DDB1	NSD1	ZNF699	ADAMTSL1	CENPE	ARID2	BPNT2	PIGT	NSMCE3	BCL11B	PAX8	GPX4	LHX4	HIRA	LHX3	KCNAB2	SETD2	GNPAT	FBN1	WASHC5	CLCN7	DSE	SP7	GPC6	MMP23B	TANC2	POLR3A	CDC45	HERC1	SETBP1	TNFSF11	PDPN	GTF2H5	ERCC6	STXBP1	NSUN2	RAB23	DUOXA2	ABCC8	PDGFRB	PEX2	UBR1	SEC24C	MAPK1	RBBP8	NPHP3	SMC3	ADSL	RTL1	APC2	CHUK	MVK	B3GALT6	SIX2	SPEN	REN	CYP27B1	SPECC1L	NUP85	DPH1	EXOC8	P3H1	PPP2R5D	AIFM1	PEX10	ATRIP	ZSWIM6	B3GAT3	TALDO1	MYH3	SCARF2	P4HB	ALG8	SMAD6	MEG3	RNF113A	ACTA1	CHST14	MAN2B1	LHX1	CASZ1	ADAMTS2	ANKRD11	MIR140	KPTN	KDELR2	ERMARD	PLK4	ERCC5	CRTAP	PCNT	PIEZO2	JMJD1C	MPDU1	CCDC22	SEC23A	WNK1	SH2B1	DUOX2	HESX1	SCN9A	ATP6V1E1	MED12	LUZP1	BANF1	PTCH1	FBLN5	TPO	SETD1A	IFT52	ZNF292	ASXL3	ALG9	SLC35A2	PTEN	KCNQ1	BMPER	GJA1	PPP3CA	TRAIP	PIGA	SMARCD1	MAP3K7	ASPA	LEMD3	GABRD	DPYSL5	MMP14	B3GLCT	LEMD2	SLC5A5	PPP1R21	PRKG2	RREB1	EXTL3	SH3PXD2B	DPF2	CWC27	ORC6
HP_ABNORMALITY_OF_THE_ANTERIOR_FONTANELLE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ANTERIOR_FONTANELLE	SMC3	RTL1	FAM111A	PEX1	CHUK	RUNX2	POR	DCHS1	ZIC1	SIX2	VPS35L	SOX9	ROR2	ETFDH	FGFR2	PEX11B	FGFR3	PEX3	PEX13	CTSK	VARS1	P3H1	PPP2R5D	PEX10	ATP6V0A2	PEX19	COL11A2	LIG4	AMER1	PEX5	INTU	COX5A	PEX26	TALDO1	LRP2	MMP2	SLC25A24	FLNA	KIF7	ATR	TWIST1	GLIS3	MEG3	PEX16	ANTXR1	MYCN	ETFB	PLAGL1	PEX14	TSHB	ADAMTS2	ANKRD11	MIR140	CRTAP	TBCE	PIEZO2	ORC1	NSMCE3	MPDU1	COL11A1	NLRP3	SEC23A	DVL1	ATP6V1A	GLI3	ATP6V1E1	SMG9	COG4	SKI	PEX2	MED12	BANF1	PEX6	ARX	HRAS	ALG9	POLR3A	CDC45	NEPRO	EBP	PEX12	SETBP1	EP300	HYMAI	ASPA	DLK1	NSUN2	IGF2	DPYSL5	B3GLCT	UBR1	PIGQ	MTOR	H19	RNU4ATAC	ETFA	COL1A2	CREBBP	WNT5A	SH3PXD2B	RPS6KA3	FAT4	MASP1	ATP7A	COL1A1
HP_SMALL_ANTERIOR_FONTANELLE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_ANTERIOR_FONTANELLE	ORC1	ATR	PLAGL1	RNU4ATAC	HYMAI	VARS1	MYCN
HP_HYDROCEPHALUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYDROCEPHALUS	HYDIN	FKTN	COMT	TMEM237	DCC	CEP120	B3GALNT2	CLIC2	CCDC40	RAD51	HYLS1	BRAF	GBA	KANSL1	RAC3	GPC3	COX7B	SHH	POMT2	TAF2	TCIRG1	FGFR3	ERCC3	SUMF1	FANCC	DNAAF2	TGIF1	ZNHIT3	CEP41	PIEZO2	DAG1	ERF	TMEM67	PEX19	UNC45A	AMER1	FANCF	AHI1	HCCS	BAP1	MTHFR	ERCC4	TTC26	GPC4	FANCD2	LAMB1	ODAD4	LRRC56	SMARCE1	B9D1	FANCB	ZIC3	CDON	RSPH1	FOXH1	CC2D2A	ERCC5	FGF8	FGFR1	DNAI1	TRAF7	OFD1	ESCO2	TMEM216	FANCL	CILK1	FRAS1	PTCH2	FOXJ1	TDGF1	DNAH1	CHST3	SLC25A24	MBTPS2	TSC1	RECQL4	ARHGAP31	GLI3	OGDH	CRPPA	CTNNB1	HNRNPU	MAD2L2	L1CAM	FANCA	PPP2R1A	STIL	SKI	CFAP300	CLCN3	TRNT1	CCL2	KIAA0586	TGFBR1	SIX3	SPTBN1	NRAS	HRAS	RSPH9	COL4A1	FAM20C	MMACHC	SMOC1	FLNA	POMGNT2	PTCH1	SLC17A5	EBP	PLG	ODAD3	ZIC2	NPHP1	POR	HDAC6	FGFR2	PIGV	DISP1	DNAJB13	SLC2A1	TERT	PDGFB	DHCR7	TGFBR2	NSD2	CPT2	FANCI	FTO	FIG4	ZPR1	PIK3CA	KDM6A	PIK3R2	POMGNT1	DNAH5	DNAAF11	TBX1	KIF7	SPAG1	ODAD1	DNMT3B	FAM111A	POMT1	INPP5E	LIG4	BUB1B	SIK3	PRDX1	DNAAF4	BICRA	GCDH	CEP104	CDC40	DOCK6	FKRP	HELLS	GLI2	TSC2	CCDC65	B4GALT1	GAS1	ROGDI	ERCC6	POMK	RASA1	LMBR1	ZBTB20	RAD51C	FANCE	TCTN1	DLL1	SNX10	RPGRIP1L	FLVCR2	NODAL	EPHB4	CCND2	AKT3	GAS2L2	KIF1A	PPP1CB	COG6	PTDSS1	TMEM107	MKS1	DHCR24	CSPP1	ODAD2	SMARCB1	PIGU	DLL4	ARL13B	SLC29A3	B4GAT1	WDR81	TMEM138	ARSB	TMEM222	B3GLCT	PYCR1	PTEN	NF1	VANGL1	BRCA2	XRCC2	NDUFB11	IFT172	GP1BB	BRCA1	CFAP221	TCTN2	TNFRSF11A	EOGT	SUFU	ZMYND10	DRC1	KDM4B	SOX9	SOX2	IRF4	HBA1	FUZ	RNASEH2A	ZBTB24	MT-CYB	HSPG2	CTBP1	STAG2	TTC12	OSTM1	GNAQ	VPS33A	RXYLT1	PRKAR1A	CFAP298	VAC14	MC1R	PIBF1	CENPF	CPLANE1	GAS8	NF2	TP53	IDUA	GALC	DNAAF3	VSX1	CSF1R	ARVCF	PPP2R5D	SMO	LARGE1	NOTCH2	UFD1	SEC24D	RNF125	EML1	MPDZ	AKT1	SPEF2	AP1S2	TREM2	RSPH3	HIRA	CEP290	MCIDAS	PALB2	ERCC8	SAMD9	HBA2	FBN1	WASHC5	CLCN7	SMC1A	VANGL2	FANCG	TUBB3	CYP26C1	GMPPB	SHOC2	POLR3A	IFT43	GUSB	DNAAF1	HERC1	TNFSF11	NOTCH1	SLC13A5	TRIM71	NSUN2	TBXT	RPGRIP1	PORCN	MUSK	SEC24C	CDCA7	WNT3	TMEM231	DNAAF6	MAF	FANCM	B9D2	B3GALT6	CPLX1	FGFRL1	MTRR	STK36	RSPO2	MAP2K1	ZNF423	USP7	BRIP1	DNAL1	CCDC39	CCNO	CEP83	KATNIP	CBY1	B3GAT3	CRB2	SLX4	DNAAF5	RPGR	RSPH4A	P4HB	KIAA1109	TRPV4	COL18A1	ALG13	DNAH9	TCTN3	NEU1	TYROBP	KRAS	MAN2B1	TXNDC15	MTM1	DNAI2	CCDC88C	JMJD1C	CCDC22	ARMC9	UBE2T	DPH1	DENND5A	LETM1	TAOK1	KMT2D	CCDC103	MED12	TBX15	ERCC2	ARL3	MAP2K2	NEK10	CFAP43	GPSM2	SF3B4	GFAP	RFWD3	MFN2	PAK3	RREB1	IDS	DNAH11	RBPJ	NME8
HP_PARIETAL_BOSSING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARIETAL_BOSSING	FIG4	SUFU	MPDU1	PTCH2	RUNX2	PTPN11	POLR3A	KRAS	PTCH1	FGFR3
HP_TRIGONOCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRIGONOCEPHALY	CHD4	CD96	PLOD1	FLI1	ADNP	PDHX	ASXL1	FLCN	GLI3	RB1	MSX2	DPM1	DPM2	EFTUD2	GPC3	FREM1	DPH1	FRMPD4	C2CD3	ACTB	ZIC2	LMNB1	PTCH1	MEGF8	ASXL3	ACTG1	IL11RA	ARHGEF9	NUP188	PPP3CA	GPC4	FGFR2	IFT140	FGFR1	MYSM1	USP7	LMNB2	HUWE1	SLC6A9	DPF2
HP_BRACHYTURRICEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRACHYTURRICEPHALY	SKI	RECQL4	PEX1	FGFR2	SP7	SYT1	FGFR1	MSX2	FAM20C	FHL1
HP_ABNORMAL_PARANASAL_SINUS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PARANASAL_SINUS_MORPHOLOGY	HYDIN	EFL1	ZMYND10	DRC1	WAS	ICOS	CCDC40	FCGR2A	SFRP4	DNAAF5	CD79A	ODAD2	CTLA4	DNAAF2	TTC12	PNP	BLNK	PRKAR1A	TCF3	TAP1	COL5A2	RUNX2	PSMB8	ELANE	AMER1	CFAP298	IGKC	PGM3	IRF8	USB1	ODAD4	LRRC56	GAS8	CYBB	CTSK	TNFRSF13C	RSPH1	DNAAF3	NFKB2	NCF2	PIK3CD	DNAI1	OFD1	TAPBP	UNC119	IL17RA	NOTCH2	ALX3	IRF2BP2	FOXJ1	SPEF2	DNAH1	DNAAF1	SH3KBP1	CIITA	MDM4	LRRC8A	IGHM	RSPH3	DOCK8	CFI	MCIDAS	RSPH9	CFAP300	HLA-DPA1	SPAG1	ALMS1	COL11A1	DNAAF6	IGSF3	PSMB4	CR2	NF1	DNAH5	FLNA	FUCA1	ODAD3	AGA	SBDS	GAS2L2	DNAJB13	DNAJC21	IGLL1	RPGR	TRIM37	NCF4	LRBA	CD79B	PTPN22	TGFB1	COL5A1	PIK3R1	ALX1	SIX2	NCF1	CYBA	DNAAF4	CCDC39	STK36	STXBP2	DNAAF11	ODAD1	DNAL1	FMR1	CCNO	ACP5	MAGT1	CD19	MGP	PSMB9	DNAI2	RSPH4A	SRP54	RFX5	NFKB1	RFXANK	DNAH9	CCDC65	MAN2B1	RAC2	IGHG2	WIPF1	NEK10	RNF168	PDE4D	ATM	RFXAP	ATRX	CFTR	IL2RG	MPDU1	NBN	PRKCD	IL21R	BTK	CCDC103	PRTN3	NME8	ADA	CFAP45	TNFRSF13B	CFAP52	HLA-DPB1	CXCR4	FCGR3A	DNMT3B	DNAH11	TAP2	IVNS1ABP	IKBKB	ADA2	SMCHD1	CYBC1	CFAP221	KCNJ2
HP_BRACHYCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRACHYCEPHALY	TGFB3	HDAC8	ALX4	RAD21	NALCN	ATIC	MSX2	MGAT2	XRCC4	NOVA2	GBA	CD19	RAC3	ESCO2	FREM1	BRAF	KIDINS220	TBC1D24	EXT2	ERF	SPECC1L	KDM1A	TNFRSF13B	FBN2	MEGF8	ALDH18A1	FGFR2	HSPA9	PIGW	RUNX2	POLR1C	PRKAR1A	CTU2	INTU	MMP2	PRKCZ	AMER1	DSE	TECPR2	TWIST1	UBE4B	HDAC4	LMX1B	PIGL	GRIA3	TNFSF12	CDH11	HUWE1	PHF21A	PTRH2	PCLO	SLC12A6	DDX3X	ADAMTSL1	SMC3	PIGT	CHST3	ZSWIM6	SLC25A24	EHMT1	PNPLA6	PTCH1	CA2	FGFR3	RALGAPA1	TBL1XR1	RECQL4	NFKB1	KCNAB2	EFNB1	POR	FHL1	POLR1D	RMRP	MED13L	SETBP1	PIGV	CYP26B1	NANS	SKI	KMT2C	TET3	CLCN3	SMC1A	MECP2	TRAPPC9	SMS	SP7	TCF20	FAM20C	RAI1	MMP23B	MED12	NIPBL	SETD5	PDPN	AGA	PTCH2	PDE4D	STXBP1	PRDM16	POGZ	GNB2	RAF1	ARID1B	IQSEC2	GATA1	RAB3GAP1	UPF3B	ZDHHC9	GALNT2	RAB3GAP2	TMCO1	FGFR1	ALG9	ATP6V1B2	ADSL	MAF	ANKRD17	ADNP	HSPG2	ZIC1	SPEN	RERE	POLR2A	ADAMTS10	ATP7A	ALX1	HCFC1	NFKB2	CCDC47	USP9X	USP7	FOXF1	UBE3A	LIG4	SYT1	FKBP10	TDP2	B3GAT3	PGAP3	UBE3B	BUB1B	CNOT3	ZBTB20	BRD4	TUBB	SRD5A3	IRX5	MS4A1	SATB2	PTPN11	BMP4	RAB18	CR2	PGAP2	STAC3	RAB23	ICOS	LRP5	MAN2B1	CASZ1	POLR1B	MIR140	CD81	TBC1D20	LRPPRC	NBAS	CDK10	TCOF1	ADARB1	NGLY1	TCF12	COL11A1	FLII	PCGF2	MTX2	AUTS2	SUFU	SPOP	PIGO	FKTN	DEAF1	UNC80	DPH1	TNFRSF13C	TAPT1	LUZP1	CHST14	PEX1	PQBP1	WAC	FBN1	IL11RA	IPO8	GJA1	TTC8	B3GLCT	MESD	ACOX1	SATB1	GABRD	DPYSL5	MMP14	PIGY	PTH1R	FUCA1	NEK1	PRKCD	TBX2	RNF216	MN1	OTUD6B	SH3PXD2B	WASHC5	RBM8A	SNRPN	ZC4H2	MBD5
HP_MICROCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROCEPHALY	NDE1	KAT6A	ZEB2	TBCE	CACNA1I	TSEN54	NALCN	SHH	NCDN	RTTN	SLC2A1	RB1	GATA6	DPM2	STT3A	COX7B	CDC42	TAF2	ENTPD1	HSPG2	TGIF1	RAB11B	MED27	HDAC4	TP53	ERCC3	FANCF	SIX3	EXOSC5	KATNB1	ERCC4	MORC2	FANCD2	MAB21L1	COASY	PAH	GTPBP2	PTCH1	TUBG1	PRMT7	SRCAP	FGFR1	MYT1L	TBCD	MYCN	TECPR2	RNF13	STIL	COG2	STT3B	NHP2	EMC10	DIAPH1	TERT	KDSR	CTNNA2	GLYCTK	CDON	CC2D1A	ARV1	EHMT1	TRIP12	MED25	FANCC	GMNN	PUS3	COQ9	TXN2	SMARCB1	ERCC5	NDUFS8	CENPT	GLS	EFEMP2	CYB5R3	ATP6V1A	MAD2L2	ATP1A2	SDHD	FANCA	KMT2C	PHC1	CLCN3	SMARCA4	IBA57	NODAL	AP4E1	COPB2	DHX37	FBXW11	CACNA1B	DDX6	RAB3GAP1	FAM20C	RPL35A	ITPA	RNASEH2B	TRAPPC11	TCF20	RPS26	NIPBL	CD96	CHAMP1	PSAT1	PEX12	UBA5	SLC39A14	RNASEH2C	MTHFS	BRF1	SCYL2	TARS1	POLA1	FBLN5	ARID1B	RPS15A	GABRA5	DEGS1	SEMA5A	CTNNB1	DISP1	RLIM	ALDH6A1	GALNT2	PTRH2	RAB3GAP2	STAMBP	DYRK1A	ESS2	FIG4	ZPR1	SPEN	RPL15	DYNC1I2	ADAT3	ADGRG1	KAT6B	RAD21	PLAA	POMGNT1	LEMD3	NDUFAF4	VPS13B	TBX1	PDHX	VARS1	LIG4	FKTN	ARFGEF2	NUP214	POLG	QRICH1	FRAS1	TUBGCP6	KIT	MCPH1	KIF14	PEX26	OCA2	CLPB	FGF8	UBE3A	HPDL	SET	RUSC2	SMARCD1	SPATA5	DCPS	RAI1	DGCR2	GAS1	ERCC6	EMG1	MICU1	BUD23	WDR37	GTF2E2	FANCE	DNAJC30	DNA2	BRAT1	ACTL6B	RNU4ATAC	PNKP	PUS7	TLK2	SPATA5L1	MFF	SETD1B	PLPBP	FLVCR2	CNP	TUBA1A	SYNCRIP	SCN1B	LRP5	AASS	FOXRED1	SLC16A2	TUBGCP2	DEAF1	TUBB2B	TAPT1	AGO2	FKRP	RPS19	EMC1	TMEM107	OSGEP	PDHA1	FGF12	RAB11A	XPA	FRMD4A	POMT2	MKS1	MECP2	TMEM260	TRIP13	IQSEC2	EP300	SPTBN1	NECAP1	CLTC	TELO2	COG8	MAPRE2	YARS1	KNL1	DISC1	NDUFB11	HNRNPK	KAT8	IARS1	AFF4	FARS2	BRCA1	PYCR2	POLR3GL	KCNMA1	UFM1	YIF1B	BMP15	HDAC8	ALDH18A1	KDM4B	STAT5B	QDPR	KCTD7	HSPD1	KIF1A	CTBP1	STAG2	MBTPS2	CEP152	TCTN2	DLAT	GABBR2	ACTG1	TFAP2A	TRAPPC9	CACNA1G	ALG12	PEX7	TBC1D24	CENPE	CENPF	DDX3X	CDK5	CDKL5	TMEM237	ZNF148	GABRA2	FANCI	SLC25A20	SEMA3E	CERT1	RPL5	SCUBE3	TNRC6B	ACTG2	NDUFAF2	LARGE1	UFD1	DPAGT1	ATP1A3	POMT1	EN1	HMGCL	AP3B2	EIF2B2	NUP133	TMEM70	CRIPT	CEP290	KCNAB2	ERCC8	PPP1R15B	SPTAN1	CIC	GLI2	COG1	NUP107	SYNGAP1	HCN1	SELENOI	ACTL6A	VPS11	TANC2	VPS37A	NKX2-1	NSUN2	UBR1	MAPK1	MCM5	ZNF592	LONP1	HIVEP2	SNRPB	PQBP1	XPC	GRIA4	MASP1	HS2ST1	IGF1	RTL1	AFF3	PEX1	RSRC1	DLL1	DPYD	CPLX1	PAX6	REN	NDUFS3	NHEJ1	ESCO2	EFTUD2	PEX11B	SNAP29	NTRK2	ANKRD11	MRPS25	DPP6	NDUFV2	GMPPB	PEX5	PHGDH	UGDH	XRCC2	KIFBP	KMT2B	TUBB	PAFAH1B1	SATB2	NIPA2	DGUOK	ALG13	MPC1	TAF1	BAZ1B	MEG3	ADH5	RFT1	TCTN3	ACSF3	SLC12A2	RNF168	AP4S1	PLK4	TXNDC15	SIN3A	ATP6V0A2	CNNM2	UBE3B	CTCF	KDM5B	DKC1	GRIK2	UBE2T	NBN	TRAPPC12	PRUNE1	CRADD	MRPS22	NDUFA11	ZNF292	ASXL3	TANGO2	MOCS2	ADSL	TINF2	NDUFA8	ZMYM2	RPL31	TRAIP	MAN1B1	ARF1	FOXG1	NDUFA6	AAAS	SF3B4	RFWD3	ANKLE2	B3GLCT	DGCR8	WDR73	TSR2	CEP63	ERCC2	EIF2B3	TOE1	MDH1	DDX11	CLIP2	RELN	GTF2IRD1	TRAPPC6B	OTUD6B	TRIO	RAD50	COG7	DALRD3	YIPF5	ACADSB	ALS2	CDC6	FLCN	POLR3K	KANSL1	CCDC88A	ITGB6	AP4B1	CDH15	NDUFV1	GTF2I	SCN2A	ABCA2	ZNHIT3	SUCLG1	DOCK6	PEX19	PAX3	SZT2	AP2M1	HCCS	MPLKIP	ALG1	LETM1	LIAS	GALK1	FOXH1	BRPF1	NDUFAF1	SALL4	NADK2	MYO18B	TBX6	NDUFS1	SLC25A24	TBCK	SMC1A	NOP10	TDGF1	CAMK2B	FUT8	DLD	SLC1A4	AIMP2	MAPK8IP3	HNRNPU	ZNF335	BUB1B	LARP7	WDR4	ZMYND11	NTNG1	CACNA1A	TRAPPC2L	NDP	ASH1L	COL4A1	AP4M1	RPS10	HNMT	WDR26	TASP1	ATP10A	GJA1	BPTF	ARSL	COG6	ATRX	AUTS2	PRDM16	POGZ	CHD7	ZIC2	RAB18	VPS53	NSD2	TAF13	FZD4	GRIN2B	CCDC32	TBL1XR1	ZNF408	PDE2A	HBA1	SAMHD1	CHKB	PIGF	SPTLC1	ASXL1	DHFR	RERE	SPIDR	POLR2A	KCNJ6	DNM1L	EXTL3	LSS	KYNU	TRRAP	SCN8A	DOLK	SIL1	EEF1A2	MICOS13	FGFR3	KCNA2	WWOX	TMTC3	SLC35A3	EIF2B5	PRR12	MYMK	BMP4	ATR	STAC3	NTNG2	FARSA	ADD3	AP3B1	SIK1	TBC1D20	DYNC1H1	ZBTB11	NEK9	PI4KA	RAD51C	CDK10	POMK	AGTR1	GRM7	PCNT	MRPS28	DLL3	PRSS12	PAPPA2	RPS24	VPS13D	MYSM1	CDT1	SMARCA2	LAGE3	SPOP	SAMD9L	ZIC1	GRIA2	DNM1	SASS6	SALL1	CEP135	L1CAM	HHAT	CKAP2L	GPT2	LINS1	POLR1B	CHRNG	CSNK2B	NSMCE2	NARS1	DYM	TMEM222	KIF2A	SKI	PIGO	CC2D2A	PYCR1	SLC13A5	SATB1	RNASET2	AIMP1	ELOVL4	BRCA2	PURA	PRKDC	AFF2	CEP57	TRPS1	SNRPN	NAT8L	CIT	MLXIPL	NDUFB9	ARID2	ZBTB18	NEUROD2	XRCC4	ASPM	CNOT1	MCTP2	MGME1	SRPX2	ZC3H14	TSEN2	XYLT1	CYFIP2	DGCR6	PDGFB	SLC12A6	HMGA2	VAC14	PUF60	SARS1	IER3IP1	KMT2D	RBPJ	NUS1	ERCC6L2	UBE4B	SLC35A1	ARCN1	ARVCF	CREBBP	NDUFAF8	HUWE1	MT-ND2	BCAP31	AP3D1	EOMES	CHMP1A	KIF5C	SOX4	BCAS3	LMNB1	FAR1	POR	SMARCC2	TSEN34	MBD5	RPS20	SLC5A6	FBN1	ST3GAL5	RAC1	SEPSECS	CUX1	KIRREL3	MBOAT7	TBC1D23	MMP23B	NIN	HAAO	NSDHL	AGA	GTF2H5	MGAT2	CRBN	PMPCB	SUFU	NAA10	RPGRIP1	GRIN2A	ACD	GNAO1	GINS1	CHN1	SPR	TRIM8	ADNP	CRPPA	TNIK	MVK	FGFRL1	IGF1R	ANK1	FBXL4	STAG1	HCFC1	CCDC47	BRIP1	PCNA	PLEKHG2	EXOC8	PEX10	DPF2	ATRIP	SSR4	CPT2	STX1A	NDUFS4	TRAK1	DNMT3A	RPL11	MEIS2	MTHFR	SLC9A6	DHCR24	PIEZO2	MINPP1	NGLY1	JMJD1C	UFC1	SHROOM4	BCR	GTF2IRD2	PIGH	GMPPA	CCDC8	BLM	MSMO1	KIF1C	TRMT10A	GJB4	LUZP1	HES7	B4GAT1	PIGA	SHMT2	TREX1	CARS1	GABRD	GRIN2D	CDK5RAP2	ORC4	SLC25A22	ATPAF2	NEMF	ALG2	NFIX	AP1G1	JARID2	ELN	UNC80	RTEL1	B3GALNT2	MACF1	EXOSC3	SMG8	TAT	PEX3	EIF4H	CTU2	NCAPD3	MYORG	FH	CTSD	B9D1	NCAPD2	EBF3	ERBB4	RSPRY1	RPL10	CASK	GORAB	CRKL	SLC18A2	FANCG	ARNT2	TRAPPC14	NDUFAF3	PCLO	SLC6A9	SERAC1	ATP7A	ACADS	SC5D	SNAI2	IFIH1	SLC20A2	RNU7-1	SMC3	TBX4	PTPN23	TPRKB	SOX2	ERCC1	FMN2	FREM2	NUP37	PHF8	SHANK3	ALG3	PEX6	COPB1	RPL27	KARS1	PLP1	KDM6A	PSPH	WDFY3	SLC25A19	MMACHC	FUS	NDUFB10	TUBB4A	KCNA1	PSMC3IP	WDR62	ZSWIM6	CLPP	TUSC3	BCORL1	TIMMDC1	METTL27	TRAPPC4	DHCR7	GABRB2	BCOR	PPP1R12A	RPS6KA3	TMCO1	FTO	PEX16	SP110	GRIN1	CENPJ	TMX2	BDNF	PRKD1	ADAR	MIPEP	VPS4A	C2CD3	SLC1A2	LIPT2	DHX30	FARSB	AARS1	PTS	KMT2E	RBBP8	RIPPLY2	PPP3CA	NDUFS7	FKBP6	BRD4	RNF113A	OTUD5	USP18	GOT2	PCDH12	PUS1	TCF7L2	ARX	ELAC2	PEX14	GFM1	TDP2	TSPAN12	VPS37D	POC1A	KIF11	RARS1	GBA	ST3GAL3	KIF5A	TCF4	PHF6	EIF2AK3	TMEM67	GON7	CNKSR2	MED23	PARS2	GJA5	PGAP1	MESD	RAD51	ORC6	CLCN4	COG4	SETD1A	ACTB	CDK6	NSD1	RNASEH2A	AGGF1	SVBP	KCNJ2	ORC1	PIGG	NDUFB3	YRDC	TTI2	TRIT1	INPP5E	DONSON	AP1S2	CHD2	OSTM1	NSF	NUP188	LAS1L	PNPO	NIPA1	TRMT1	RPS28	PRKCZ	VPS51	DCHS1	CSPP1	UGP2	RPL35	MESP2	PHACTR1	TNPO2	PPP2R1A	NEXMIF	EXOC7	PARN	ADAMTSL1	LINGO1	PACS1	INPP5K	HIRA	METTL5	PALB2	UPB1	PIGQ	VIPAS39	FRRS1L	TSEN15	GJB3	NBEA	PIGS	FDXR	ACBD5	RPGRIP1L	PDPN	TP53RK	TMEM126B	SEC24C	FSHR	UBE4A	EXT2	EZR	CDC45	TMEM231	ANKRD17	MYH3	B9D2	EXOSC1	DHTKD1	G6PC3	MED17	AHSG	NUP85	DDB2	CELF2	INSR	USP7	KCNT1	ACSL4	KMT2A	OCLN	SLX4	RNPC3	DNAJC21	MPDU1	PIGY	HBA2	WDR45B	RNF2	GABRG2	CDCA7	EPRS1	HTRA2	EFL1	EIF2S3	RBM28	MFSD2A	EDC3	CUL4B	ARHGEF2	ATP5F1A	SLC45A1	PCGF2	YARS2	LTC4S	KCNQ5	DENND5A	SOX11	PEX2	HACE1	ALKBH8	GEMIN4	ALG9	SLC35A2	WASF1	FGF13	SLC35C1	KCNA4	ALG11	CTNND2	BRSK2	RPS29	EPG5	MT-ND1	DHDDS	TAOK1	RREB1	MOCS1	CYB5A	OGT	NUBPL	SLC12A5	SMAD4	COMT	ZMIZ1	GATA1	DPM1	NCF1	MRPS34	DOCK3	SCN3A	DAG1	MT-ND3	FBXO11	RPS23	TOR1A	NELFA	RPL18	AGT	SBF1	DDX59	ARHGAP31	NDUFS6	CACNG2	COG5	JAM3	FANCL	DPYSL5	NACC1	YWHAG	THOC6	C12orf4	GLE1	MID1	TUBGCP4	KDM5C	RHOBTB2	BNC1	EIF2AK2	IQSEC1	EFNB1	SGPL1	SUCLA2	ACADVL	BCL7B	SMG9	TRPM3	KCNB1	CHUK	ARID1A	NDUFS2	SYNJ1	NF1	PMM2	POMGNT2	GPKOW	IFT140	HMGB3	SMARCE1	LMAN2L	LMNB2	NR5A1	FANCB	AMPD2	CDK13	MAP1B	ATP6V1B2	PIGP	IKBKG	EIF2B1	AUH	PDGFRB	EIF2B4	VPS33B	FBXL3	SIGMAR1	GFM2	CLIP1	PRICKLE2	PTEN	SLC6A1	RFC2	WASHC4	CAMK2A	LDHD	UBR7	PRDX1	BICRA	ISCA1	SMPD4	PPT1	SLC30A10	MCOLN1	NAA20	TECR	FBXO31	CNTNAP1	TCTN1	DSTYK	NFASC	ADARB1	DMXL2	FLII	HNRNPH2	ADA2	METTL23	BUB1	SCN1A	PTF1A	EXOSC9	ALDH3A2	FREM1	CNOT3	DLK1	ACE	TUFM	WBP11	GRIP1	UQCRC2	GP1BB	MCM4	C2orf69	KAT5	NDUFA1	HSD17B10	NDUFAF5	PGAP3	TMEM216	PIGC	PSMD12	MED13	RARS2	LIMK1	PISD	RPS17	RPS7	INTS8	RXYLT1	TOP3A	SIX6	KCNH1	LMX1B	CUL3	DCX	CDH11	PGAP2	VPS33A	CDK19	TAF6	RPS27	UBTF	ZNF699	CARS2	POLR1A	MED12L	CHRNA7	GNPAT	MADD	PALS1	EGF	NANS	SLC25A1	TET3	XPR1	SLC6A8	LFNG	TUBB3	CYP26C1	WT1	KIF15	EXT1	STXBP1	TMEM165	TTC5	EPB41L1	PORCN	PTDSS1	BUB3	TBL2	LARS1	MAFB	ASNS	EXOC2	QARS1	GJA8	FANCM	ACO2	MTRR	FAT4	THOC2	RIPK4	POLE	TMEM270	PPP2CA	POLR3H	NCAPG2	PEX13	PET100	HTT	SUMF1	NCAPH	NAGS	MIR17HG	UFSP2	OFD1	IFT74	NDST1	RRP7A	AHCY	BCL11A	CLP1	CASZ1	LMBRD2	RPL26	ITGA3	GATA4	MTFMT	P4HTM	COX8A	SPG11	YME1L1	SPART	ATP6V1E1	ALX4	DOCK8	COX15	IPO8	AGTPBP1	ZC4H2	VARS2	CSNK2A1	PAK3	LEMD2	EIF5A	NDUFC2	JAM2	CAPN15	NARS2
HP_PROGRESSIVE_MICROCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_MICROCEPHALY	PNPO	CC2D1A	PLAA	ZNHIT3	CNP	SLC1A4	ACO2	PUS3	TSEN54	CDKL5	EXOSC3	EXTL3	MFSD2A	TUBGCP2	DPM2	CCDC88A	TSEN34	SPTAN1	MED17	SNAP29	GRIA2	ATP6V1A	SEPSECS	WWOX	SCN8A	RNASEH2A	COG1	ATP6V1E1	TSEN15	TSEN2	EMC1	RARS2	VARS1	ARFGEF2	ATP6V0A2	SLC25A19	PYCR2	ACBD5	CDC45	ALG1	PNKP	MECP2	EFTUD2	IQSEC2	ALG12	FOXG1	SLC39A14	SMPD4	PAFAH1B1	PPT1	RNASEH2C	MGAT2	TREX1	RNF113A	CASK	COG8	ERCC6	ZSWIM6	TOE1	MPC1	NDUFS1	VPS53	SLC25A22	CLP1	COG7	ALG9	MDH1	GLYCTK	GOT2	PTRH2	CDC42	STAMBP	TRAPPC6B	PCDH12	PCLO	AMPD2	DOLK	ERCC8	SLC2A1	ASNS	BRAT1	POMK	FAR1	QARS1
HP_WIDE_ANTERIOR_FONTANEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDE_ANTERIOR_FONTANEL	RTL1	PEX1	CHUK	POR	DCHS1	SIX2	VPS35L	SOX9	ROR2	ETFDH	FGFR2	PEX11B	FGFR3	PEX3	PEX13	P3H1	PPP2R5D	PEX10	PEX19	COL11A2	LIG4	PEX5	INTU	COX5A	PEX26	TALDO1	LRP2	SLC25A24	FLNA	KIF7	TWIST1	GLIS3	MEG3	PEX16	ANTXR1	ETFB	PEX14	TSHB	ADAMTS2	MIR140	CRTAP	PIEZO2	ATP6V0A2	NSMCE3	MPDU1	COL11A1	SEC23A	DVL1	GLI3	SMG9	COG4	SKI	PEX2	MED12	PEX6	ARX	HRAS	ALG9	CDC45	NEPRO	EBP	PEX12	SETBP1	EP300	DLK1	NSUN2	B3GLCT	PIGQ	MTOR	ETFA	COL1A2	CREBBP	WNT5A	SH3PXD2B	FAT4	MASP1	COL1A1
HP_TURRICEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TURRICEPHALY	SLC25A24	FGFR3	COMT	GPX4	FGFR2	KDM4B	HIRA	RECQL4	MSX2	FHL1	ZIC1	TBX1	FERMT1	SKI	PEX1	ERF	ACP5	MEGF8	SP7	SYT1	SOX6	SLC12A6	FAM20C	IL11RA	POR	RAB23	PEX5	TWIST1	ALG14	ARVCF	SEC24C	RREB1	MN1	GP1BB	UFD1	SEC24D	FGFR1	P4HB	AP1G1	JMJD1C
HP_OXYCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OXYCEPHALY	MEGF8	SOX6	RAB23	TWIST1	ZIC1	FGFR2
HP_ABNORMALITY_OF_THE_MASTOID	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MASTOID	DLX3	PAX1	RAG1	TPP2	SLC39A14	NBN	CDH11	CTSK	RAG2
HP_MASTOIDITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MASTOIDITIS	PAX1	RAG1	TPP2	SLC39A14	NBN	RAG2
HP_CRANIAL_ASYMMETRY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRANIAL_ASYMMETRY	RNF135	AKT3	CTBP1	NSD2	CPLX1	FGFRL1	KRAS	NRAS	PEX19	MAF	PIK3CA	SPECC1L	HRAS	LETM1	POLR3A
HP_DOLICHOCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DOLICHOCEPHALY	KDM6B	FGF9	RAF1	PIGG	TGFB3	SUPT16H	EXOC6B	CITED2	KRAS	NDN	IFT122	RAD51	BRAF	NKX2-5	IL6ST	FIG4	FANCC	PRPS1	NKX2-6	RYR1	C12orf57	NPR2	FBN2	YY1	PEX19	NELFA	TFAP2A	FANCF	VAC14	KATNB1	ERCC4	HSD17B4	FANCD2	MAN1B1	TMEM216	LETM1	GATA4	IDUA	EBF3	RPL10	NSD2	ARCN1	PTEN	OBSL1	KDR	PEX14	PEX5	NOTCH2	MADD	ZNF142	KDM5B	FANCL	SLC6A9	NSD1	MTM1	DIS3L2	NOTCH3	JAG1	PALB2	GLI3	SETD2	CPLX1	WDR35	MAD2L2	SHANK3	FANCA	FBN1	SKI	MYH3	PEX6	COL5A1	FANCG	SPTBN1	PEX1	FGFR2	CNTN1	MKRN3	IFT43	KPTN	KIF15	TBC1D7	CUL7	IFT81	IFT140	HGSNAT	MGAT2	ATRX	GNB2	SMAD3	PEX2	WDR19	NPAP1	IFT52	ITCH	TBX1	FLT4	FANCB	PWAR1	TRIM37	PEX11B	AKT1	FANCI	ERGIC1	FANCM	APC2	PREPL	ALX4	ALPL	MVK	SLC35D1	KMT2E	ERF	DPH1	SNRPN	SNAP29	BRIP1	VDR	ATP6V1B2	TAB2	PEX13	PPP2R5D	KMT2A	SOX6	HNRNPK	INPPL1	OFD1	SLX4	CNOT3	RAB39B	BICRA	KCNJ2	ADH5	PEX16	KCNK9	PI4KA	CTBP1	CNTNAP1	GATA5	MAGEL2	ERMARD	RAD51C	FANCE	MSL3	TWIST1	DMXL2	TRAIP	ZFPM2	DLX3	GDF1	CCDC8	BLM	SLC3A1	HERC2	UBE2T	FKTN	PEX26	KCNJ5	PTH1R	PWRN1	ASXL3	INTS1	RELN	IL11RA	PEX10	SNORD115-1	TGFB2	IPO8	CHRNG	GJA5	ARSB	DYM	PEX12	RFWD3	GATA6	ALG14	BRCA2	XRCC2	IDS	CEP57	MN1	ORC4	AGO2	SNORD116-1	BRCA1	NDE1	RNU4ATAC	NFIX	PEX3
HP_PROMINENT_OCCIPUT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_OCCIPUT	HRAS	B3GALT6	MOGS	CHUK	GDF11	ALX4	CCDC22	NRAS	TFAP2B	IFT122	FLNB	ERF	CDKN1C	KRAS	GLI3	SMG9	TBC1D24	WASHC5	KCNQ1OT1	HES7	IGF2	IFT52	LFNG	SOX6	TOR1A	RELN	KAT6B	KCNQ1	KATNB1	RIPPLY2	CNOT3	HYMAI	IFT81	FLNA	PIGA	MED12	KIF7	WDR35	CTSK	WDR19	PIGN	MYCN	MESP2	PLAGL1	RNU4ATAC	ITCH	NOTCH2	TBX6	TWIST1	ATP7A	NDE1	CNOT1	ATP6V1B2	IFT43	DLL3
HP_DELAYED_CRANIAL_SUTURE_CLOSURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_CRANIAL_SUTURE_CLOSURE	SMC3	MAF	ELN	FAM111A	RUNX2	HSPG2	ZIC1	ALDH18A1	SPEN	RERE	ROR2	TSHB	ACTB	CTSK	P3H1	ATP6V0A2	PEX19	ACTG1	FGFR2	ZMPSTE24	LIG4	AMER1	PROP1	HSD17B4	MMP2	BICRA	PRKCZ	FLNA	FAM20C	TWIST1	FGFR3	IGF2	UBE4B	RPS19	ANTXR1	CASZ1	ADAMTS2	USP7	ANKRD11	RNF125	TG	CRTAP	TBCE	MTX2	NAA10	LHX4	LHX3	NLRP3	SEC23A	GLI3	KCNAB2	DUOX2	HESX1	ATP6V1A	ATP6V1E1	POU1F1	MED12	PEX14	LUZP1	CHST14	BANF1	PTDSS1	FBLN5	TPO	ATP7A	LMNA	DDX6	IYD	MMP23B	POLR3A	EP300	PDPN	ASPA	PRDM16	NSUN2	GABRD	SKI	DUOXA2	PDGFRB	SLC5A5	H19	PPP1R21	ALG9	CREBBP	SH3PXD2B	RPS6KA3
HP_FACIAL_GRIMACING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_GRIMACING	CP	EP300	CREBBP	PLPBP	PNKD	ALDH7A1	SLC13A5	PANK2	ATXN8OS	PDE2A	GLI3	GATAD2B
HP_SMALL_FACE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_FACE	MLXIPL	NTNG2	TPM2	ZMIZ1	SOX9	TRMT1	ATR	KDM4B	AXIN2	GTF2I	KLHL41	BCOR	NCF1	PAX3	PSMD12	MED13	DOCK3	CEP152	LIMK1	MED27	EIF4H	CLCN3	RUNX2	POLR1C	TGFA	KBTBD13	SATB2	SLC16A2	WNT10A	UBB	ACTA1	TPM3	NHS	NALCN	WNT10B	SEMA3E	NSDHL	WRN	ACTL6B	TNRC6B	STRADA	EMC10	DPYSL5	NSD1	RYR1	CENPE	TANC2	CHST3	PTPN23	TRIP12	DDX6	B4GALT7	BCAS3	CENPT	SETD2	PPP1R15B	LMOD3	MADD	MAPK8IP3	POLR1D	KCNMA1	PALS1	BCL7B	FGFR3	AP4E1	FBXW11	WDFY3	EYA1	ACTL6A	BPTF	MYH7	MED12	TCF20	MSX1	UPF3B	TBX1	SMS	NSUN2	CHD7	MYH3	SLC37A4	HYOU1	TUBB4A	BCORL1	RLIM	ZDHHC9	METTL27	TBL2	TSPAN7	NEB	CCDC32	RBBP8	PQBP1	MYT1L	FLNA	HS2ST1	ATP7A	ANKRD17	PBX1	APC2	CENPJ	SRCAP	TNNI2	INSR	CHRNB1	SATB1	FBXL4	IRF6	FGFR1	ELN	NUP85	MAP2K2	TMEM270	SLC12A2	EDARADD	RECQL4	RFC2	FMR1	MYPN	HTT	UBR7	KMT2E	ATRIP	TRIP11	LIG4	B3GAT3	STEEP1	UBE3B	FKBP6	STX1A	GRIA4	HPDL	LRP6	SELENON	BAZ1B	PAX9	MICU1	BLM	POLR1B	BUD23	PLK4	LMBRD2	MTM1	SLC9A6	DNAJC30	DSTYK	TCOF1	TRAIP	SIN3A	PCNT	TCF7L2	NGLY1	PUS7	GTF2IRD2	SVBP	SYNCRIP	SIX1	VPS37D	ERCC4	CFL2	SLC6A8	AGO2	LMNA	TRMT10A	NOG	RNF2	WASF1	TBR1	NFIX	NTNG1	SPTBN1	CNOT3	GHR	HUWE1	EDA	DDX11	KAT8	CLIP2	SETD1A	GRHL3	TRAPPC4	GTF2IRD1	TNNT3	JARID2	SUMO1	FBN1	NOTCH3
HP_NARROW_FACE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_FACE	PBX1	APC2	CENPJ	MLXIPL	NTNG2	TPM2	SRCAP	ZMIZ1	NEB	TRMT1	ATR	TNNI2	CHRNB1	SATB1	FBXL4	NSUN2	KDM4B	ELN	NUP85	PQBP1	MAP2K2	ACTA1	TMEM270	GTF2I	KLHL41	BCOR	NCF1	SLC12A2	PAX3	PSMD12	MED13	RECQL4	RFC2	FMR1	DOCK3	CEP152	LIMK1	MED27	EIF4H	MYPN	CLCN3	HTT	UBR7	KMT2E	ATRIP	TRIP11	LIG4	KBTBD13	SATB2	STEEP1	UBE3B	FKBP6	STX1A	SLC16A2	GRIA4	HPDL	TPM3	SELENON	NHS	BAZ1B	NALCN	SEMA3E	NSDHL	WRN	ACTL6B	MICU1	BLM	TNRC6B	BUD23	MYT1L	PLK4	STRADA	EMC10	LMBRD2	DPYSL5	MTM1	SLC9A6	DNAJC30	NSD1	DSTYK	RYR1	CENPE	TRAIP	SIN3A	PCNT	TCF7L2	TANC2	NGLY1	PUS7	PTPN23	TRIP12	GTF2IRD2	SVBP	DDX6	SYNCRIP	SIX1	BCAS3	CENPT	VPS37D	ERCC4	SETD2	PPP1R15B	LMOD3	MADD	MAPK8IP3	CFL2	KCNMA1	SLC6A8	PALS1	BCL7B	AGO2	LMNA	TRMT10A	NOG	AP4E1	FBXW11	WDFY3	EYA1	RNF2	WASF1	ACTL6A	BPTF	NFIX	MYH7	MED12	NTNG1	TCF20	UPF3B	SPTBN1	TBX1	CNOT3	RLIM	SMS	CHD7	MYH3	SLC37A4	HUWE1	HYOU1	TUBB4A	BCORL1	ZDHHC9	METTL27	KAT8	TBL2	CLIP2	SETD1A	TSPAN7	TRAPPC4	GTF2IRD1	CCDC32	RBBP8	TNNT3	JARID2	HS2ST1	ATP7A	FBN1	ANKRD17	NOTCH3
HP_RETROGNATHIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETROGNATHIA	CANT1	RSPO2	ORC1	MOGS	TTN	TGFB3	TGFBR1	KAT6A	MYO9A	AGRN	BNC2	ORC4	CDC6	EED	ABAT	RTTN	IGBP1	ROR2	HYLS1	MAT2A	MGAT2	COL1A2	CCDC88A	SNRPN	MAMLD1	FRMPD4	SMOC1	CEP120	EBP	ACTB	EZH2	EIF4A3	FBXW11	C2CD3	PIEZO2	DGCR6	MEGF8	ZBTB24	ACTG1	POLR1C	PSMD12	NUP188	ERCC3	MTM1	HCCS	EXOSC5	CTU2	KATNB1	KAT6B	PUF60	HSD17B4	MPLKIP	IGF2	SLC25A1	ODC1	CTBP1	AMER1	FAM20C	MYLPF	PRMT7	ZMPSTE24	SRCAP	RSRC1	TRIP4	CEP152	RPL10	BRCC3	ARCN1	NSDHL	SLC29A3	GTF2E2	FANCB	TNPO2	NFIX	SUZ12	SNAP25	TGFBR2	HPDL	ATG7	EDEM3	SEC24D	LMNA	CCBE1	EXOC7	IDH1	ARNT2	FOXP1	SLC6A9	SMAD3	ERCC2	DDB1	ZNF699	MFAP5	ARID2	CHST3	GLE1	FOXE1	AP3D1	SLC25A24	TMEM70	SMC1A	ASPH	INTU	SYT2	CA2	FZD2	DIS3L2	GMNN	NAA10	POLR1A	COL3A1	FUT8	CRIPT	RARB	WDR35	CHAT	FHL1	CRPPA	RPL5	POLR1D	SF3B4	SLC10A7	FBN1	IBA57	DSE	NBN	TGFB2	PIK3C2A	MYMK	EYA1	TMEM107	KPTN	MIA3	GLDN	TASP1	NEPRO	TBX1	SETBP1	FARS2	MED25	GTF2H5	HDAC8	TARS1	AUTS2	TELO2	NARS1	SEMA5A	ARID1B	PIGN	CREBBP	MYH11	MAGEL2	DVL1	CDC45	LTBP4	FTO	ESS2	ACTA1	HBA1	RTL1	KCNK9	SPEN	EXOSC1	PREPL	GAD1	LOX	ASXL1	FBXL3	COL1A1	COL13A1	DYRK1A	SPEG	ELN	DPYD	TPM2	RYR1	VAMP1	FAT4	FOXF1	PAX1	SLC35A3	OCLN	PRKG1	SIM1	B3GAT3	ADAMTS3	ERF	PRR12	BIN1	ACTA2	SLC5A7	OFD1	BMP4	DVL3	ASXL2	HBA2	BCL11A	SPATA5	OTUD5	CSGALNACT1	MEG3	RPS19	RNF113A	DGCR2	SLC18A3	CHST14	PLAGL1	RBBP8	HS2ST1	POLA1	BLM	TCTN3	POLR1B	ITGA8	ADAMTSL2	ATP6V1A	LBR	PMM2	KIF7	MSL3	DSTYK	TCOF1	SIN3A	GLI3	PCNT	LGI4	UBE3B	ZNHIT3	SELENON	MADD	SLC3A1	SMAD4	WNT5A	CRLF1	EDN1	DLK1	MRPS22	FDFT1	SMAD2	IGF1R	CEP135	COG6	GBA	BANF1	EMC1	ADAMTS2	COG5	DHCR24	ASXL3	ALG9	MBD5	INTS1	FOXE3	RELN	IPO8	ZC4H2	POLR3A	ALG11	NSMCE2	MYLK	EP300	CTNND2	HYMAI	COX7B	SKI	MESD	NSD1	PUS7	YARS1	TAF1	DGCR8	ORC6	HEY2	MYH7	WBP11	COG7	NDUFB11	THOC6	NUP88	CDT1	OTUD6B	CENPJ	ATPAF2	TRIP11	CEP55	NDE1	SIX1	RNU4ATAC	SIX5
HP_COARSE_FACIAL_FEATURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COARSE_FACIAL_FEATURES	WDR81	MLXIPL	SUFU	CTSA	TBCK	ARID2	BRAF	CDKN1C	GPC3	ABCC9	AP4B1	AGA	AIP	ALG14	MCTP2	GTF2I	SUMF1	CEP120	TBC1D24	ACTB	NCF1	MRPS34	KCNQ1OT1	PUS3	IGF2	C12orf57	LIMK1	TSHR	EIF4H	ACTG1	VPS33A	ANTXR2	PIGW	GNPTAB	LAMTOR2	ERCC3	GNE	NAGA	FMR1	GPC4	MPLKIP	XYLT1	MMP2	INSR	PIGN	GNPTG	NKX2-5	ZNF148	IDUA	KCNH1	SMARCA4	HDAC4	FBXO31	PIGL	RIN2	GTF2E2	ARX	TNPO2	NEU1	GPR101	NOTCH2	CUL4B	FOXE1	PTCH2	NSD1	ZNF699	AP1S2	ADNP	CHD4	WDR26	PACS2	EHMT1	HPGD	SLC35A2	SOX4	SNX14	MED12	NAGLU	NAA10	SMARCB1	STAT3	COL2A1	FAR1	SETD2	SMARCC2	FHL1	L1CAM	PIGV	BCL7B	SLC35C1	NANS	ARID1A	AP4S1	PAX8	BRCA1	PIGS	SPTBN1	HRAS	AP4E1	TCF4	SGSH	AP4M1	PIK3C2A	GJA1	GUSB	KIF15	TBC1D7	SLC17A5	FUCA1	SETBP1	SOX11	GTF2H5	HGSNAT	PDE4D	SMARCE1	TARS1	ATRX	ARID1B	BSCL2	NKX2-1	GLB1	METTL27	SLCO2A1	TBL2	KCNN3	MAPK1	ERCC2	ACER3	MPL	RPS6KA3	EXT2	MAGEL2	DYM	FTO	ATP6V1B2	APC2	IDS	SPEN	HEXB	TBC1D2B	PIGF	GNS	KAT6B	EXTL3	GALNS	TMEM251	ELN	CCDC47	MAP2K1	TMEM270	AFF4	MAN2B1	RFC2	PHF6	AIFM1	NMNAT1	DPF2	OFD1	PGAP3	FKBP6	PIGB	CNTNAP2	STX1A	MCOLN1	SMARCD1	PGAP2	BAZ1B	OTUD5	RNF113A	HNRNPK	KRAS	SOST	HS2ST1	AP3B1	FLNA	BUD23	BCORL1	DNAJC30	P4HTM	MEN1	PLAA	GTF2IRD2	DNMT3A	CNP	NF1	PIGO	VPS37D	RBMX	KCNJ8	ABCA5	DENND5A	PTCH1	SLC26A4	CLCN4	WAC	MAP2K2	TFE3	THPO	KCNQ1	CLIC2	ARSB	PIGA	MAP3K7	MYSM1	MMP14	AIMP1	PIGY	PIGQ	SH3PXD2B	PPP1R21	CLIP2	GLA	GTF2IRD1	SVBP	KLHL15	MBD5
HP_FACIAL_EDEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_EDEMA	NPHS1	GAPVD1	MLXIPL	TBC1D8B	XPNPEP2	PLG	CD2AP	AIP	TSHB	ELN	TMEM270	GTF2I	SUMF1	ACTB	CTLA4	NCF1	HAVCR2	NUP133	KCTD1	RFC2	ZNHIT3	EMP2	LIMK1	PIEZO1	EIF4H	ACTG1	MAGI2	GSN	GNPTAB	NUP93	ANTXR1	NUP85	TNFRSF1A	PROP1	COL1A1	RECQL4	FKBP6	PSMB9	WT1	STX1A	POMP	ABCC9	PAX2	PEX5	NUP107	BAZ1B	SMCHD1	DUX4	RIN2	ALB	MYO1E	ADAMTS2	NEU1	KPTN	CDH11	COL4A3	TGFBI	FRMD4A	BUD23	KAT6A	MYOF	ANAPC1	CCBE1	COL5A2	DNAJC30	TG	HS3ST6	FOXG1	SNX14	F12	GPR101	NPHS2	COQ8B	GTF2IRD2	SOX18	LHX4	LHX3	DUOX2	VPS37D	HESX1	KIF1A	SHANK3	BCL7B	PRTN3	PIK3CD	APOL1	TPO	MED12L	HLA-DPA1	SPTBN1	KNSTRN	PSPH	KNG1	IYD	PTPRO	SLC35C1	NUP37	NUP205	IGSF3	PSMB4	SLC29A3	HLA-DPB1	COL5A1	ACTN4	EPHB4	FRG1	DUOXA2	DNMT3B	PLCE1	ARHGAP24	CRB2	POU1F1	CAMTA1	SLC5A5	ARHGDIA	TRPC6	ANLN	ANKFY1	METTL27	TBL2	CLIP2	ANGPT1	INF2	ADAMTS3	PEX2	GTF2IRD1	LTBP4	PTPN22	SERPING1	MYD88	NUP160
HP_BROAD_FACE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_FACE	NFIA	SUFU	TGFB3	FLNA	AGA	PTCH1	SNX14	PDE4D	ZNF711	BRAT1	UBE2A	TBL1XR1	PTCH2	RAI1	HDAC4	IDUA	FLNB
HP_EPICANTHUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPICANTHUS	RERE	RAF1	CHD3	OFD1	COMT	KAT6A	COLEC10	EED	BRAT1	TBCK	GATA1	RAD51	RB1	BRAF	HK1	KANSL1	COL1A2	CCDC88A	GPC3	ABCC9	GTF2I	FANCC	ACTB	PEX3	NCF1	EXT2	ROR2	ZNHIT3	FOXL2	RPS23	TRIP12	SOS1	EIF4H	ZBTB24	PEX19	TCF3	TWIST2	FAM149B1	PIGW	NELFA	GREB1L	RPL18	ERCC3	TRIO	AMER1	FANCF	ERCC4	GPC4	MPLKIP	FANCD2	PAH	LETM1	FIBP	SRCAP	TWIST1	CHRNG	EBF3	SALL4	RSPRY1	MYCN	RPL10	NSDHL	GTF2E2	PAFAH1B1	PHF21A	COLEC11	FANCL	COL5A2	DVL3	SLC26A2	FOXG1	SC5D	TBX4	CHD4	PNPLA6	WAC	MED25	PTPN11	SNX14	LRRC8A	TPRKB	IGHM	RHOBTB2	RECQL4	CPLX1	WDR35	POU3F3	HNRNPU	BUB1B	WDR4	MAD2L2	SHANK3	FANCA	WDR73	BCL7B	MYH3	CLCN3	PEX6	RPL27	NCDN	RIT1	BRCA1	WNT7A	HRAS	CHAMP1	DDX6	PIK3C2A	TCF20	RPL35A	RPS10	DYNC2I1	RPS26	TASP1	CD96	SLC17A5	TOPORS	GJA1	PEX12	BPTF	UQCC2	PTCH2	TARS1	ATRX	AUTS2	TONSL	PRDM16	CHD7	RPS15A	MRPL12	CSPP1	SEMA5A	SYT1	ALX3	VPS53	PIGN	NXN	HOXB1	METTL27	ALDH6A1	DHCR7	IGLL1	NSD2	CREBBP	PPP1R12A	CEP57	FANCB	TMCO1	FAT4	ZEB2	DVL1	SNRPB	CDK13	MAP1B	FANCI	PRMT7	PEX16	HBA1	ATP6V1B2	ABCA5	PBX1	COL5A1	SPEN	FGD1	PREPL	RPL15	PDHX	ADAT3	COL1A1	RTL1	EEF1A2	COA3	TRRAP	ELN	DDR2	TBX1	AP1G1	RAB3GAP2	MAN2B1	KCNH1	RFC2	DNMT3B	DHX30	LIG4	FGF20	PIEZO1	COG8	ADAMTS3	UBE3B	PEX26	BICRA	FKBP6	KIAA0753	MYMK	SMPD4	MAPRE2	MECP2	PIGL	CASK	TOE1	FLNA	PGAP2	PEX5	GLIS3	HIBCH	HELLS	RPS19	CAMK2A	SON	MICU1	AP3B1	ZBTB18	CTBP1	CNTNAP1	BUD23	WDR37	PMM2	REV3L	NBAS	RAD51C	CDK10	FANCE	MSL3	DNAJC30	NR2F1	CHRND	KIF7	PHIP	TLK2	FLI1	SIAH1	BCL11B	PEX14	MADD	GNE	RPS24	MEG3	HNRNPH2	SPOP	SLC3A1	VPS37D	WNT5A	KIF11	PPP1CB	KIF1A	ADA2	FDFT1	SOX18	WNT9B	COG6	PEX1	ADAMTS2	SEPTIN9	MASP1	OSGEP	DHCR24	SMARCA2	BUB1	ZFHX4	TFE3	GATA2	PIGU	B4GALT7	ZNF462	EXOSC9	PALB2	TUBB	TRIP13	EP300	NAA10	DLK1	DOCK3	PUS7	YWHAE	YARS1	COL25A1	AHI1	CHRNA1	BRCA2	XRCC2	PLXND1	DYNC2H1	TBX2	CPLANE1	PURA	THOC6	SOX5	AFF2	KMT2A	GP1BB	AGO2	RPS6KA3	PQBP1	SVBP	GATAD2B	GNPTAB	NOTCH3	KDM6B	PIGG	MLXIPL	SUPT16H	GDF11	SRY	RALA	KRAS	PLOD1	IFT122	BCAS3	XRCC4	NRAS	INPP5E	CNOT1	CD79A	FIG4	TBC1D24	CTCF	KCTD1	GJC2	RYR1	LIMK1	SPRED1	MEGF8	BLNK	ACTG1	FGFR2	VPS33A	NUP188	RPS17	RPS7	PRKAR1A	TBX22	ZMIZ1	PUF60	HSD17B4	XYLT1	MAN1B1	ALG12	RPS28	PRKCZ	VPS51	DCHS1	ALDOA	UGP2	NF1	ZNF148	RPL35	ZNF469	DLX4	UBE4B	LZTR1	SEMA3E	BMP2	ARVCF	CERT1	RPL5	UFD1	EDEM3	HUWE1	CCBE1	RPS27	DDB1	C12orf4	ARID2	RET	MAB21L2	NONO	SLC35A2	PTCH1	FZD2	DIS3L2	HIRA	CHRNA7	KCNAB2	FGFR1	PPP1R15B	SHOC2	RPS20	CBL	PIGV	NANS	FANCG	TRAPPC9	TUBB3	COL11A1	MMP23B	ITGA8	IFT43	PIK3CA	PDPN	ZNF407	GTF2H5	NSUN2	WDR19	SEC24C	BUB3	TBL2	ALX4	CDCA7	MAPK1	ERCC2	RIC1	CD79B	TRAF7	PDE4D	QARS1	STAG2	FANCM	PIK3R1	ALG3	HSPG2	ALX1	FGFRL1	SIX2	TMEM216	ANK1	EFTUD2	KDM6A	PEX11B	SPECC1L	FBXL4	DPH1	KIAA0586	MAP2K1	MAP2K2	LMBRD1	TMEM270	PPP2CA	BRIP1	DYNC2LI1	PEX10	SCN4A	LONP1	ATP6V0A2	PEX13	DYNC2I2	GPC6	HECW2	PGAP3	SLX4	UGDH	SLC25A24	STX1A	DNAJC21	HBA2	BCL11A	FGFR3	COL18A1	MPC1	TAF1	BAZ1B	RAB23	COL3A1	RNF113A	DNMT3A	RPL11	HS2ST1	CASZ1	NOTCH2	MIR140	ADAMTSL2	RMRP	RPL26	CUL4B	HIC1	ARID1B	DMXL2	GATA4	SIN3A	PIEZO2	MINPP1	SHROOM4	JMJD1C	FLT4	GTF2IRD2	TCTN3	KAT8	PDE6D	MED13L	SUFU	PIGO	KCNJ8	UBE2T	UNC80	SPART	PEX2	UBE3A	MED12	LUZP1	TRMT10A	SETD1A	IFT52	ZNF292	ASXL3	ALG9	ATN1	INTS1	KAT6B	BMPER	B9D2	ZMYM2	RPL31	EZH2	CTNND2	CSNK2A1	SOX4	RFWD3	GABRD	SKI	RPS29	PIGY	IFT80	TSR2	PPP1R21	EIF5A	RREB1	DDX11	CLIP2	TMEM237	GTF2IRD1	ALG2	NFIX	ACOX1	DHX16
HP_ABNORMALITY_OF_THE_PHILTRUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PHILTRUM	RERE	NTNG2	UNC80	TBCE	NALCN	RTTN	COL2A1	BRAT1	CLCN4	DLK1	SMG8	DPM2	RAC3	DOCK7	CKAP2L	FREM1	CDC42	BCOR	HSPG2	LARP7	EXT2	TRIP12	NECTIN1	CDH2	MED27	EIF4H	TWIST2	PIGW	MAB21L1	PAH	FZD2	DSE	PRMT7	SLC2A10	NODAL	WDR19	SRCAP	TWIST1	CHRNG	EBF3	RPL10	BRCC3	PACS1	PTEN	CASK	EMC10	CRKL	PHF21A	PCLO	MARS2	SC5D	SNAI2	SMC3	TNNI2	CHST3	ERLIN2	PTPN23	MED25	SNX14	SMARCB1	MEG3	CPLX1	ATP6V1A	SHANK3	PTCH1	CLCN3	SMC1A	SLC2A1	SPTBN1	KARS1	AP4E1	CHAMP1	DHX37	FBXW11	WDFY3	DDX6	MMACHC	SMOC1	DYNC2I1	TCF20	NIPBL	IFT81	TMEM94	PDE4D	ZNF711	RTL1	SMS	ARID1B	SYT1	BCORL1	RLIM	ZDHHC9	METTL27	TRAPPC4	ALDH6A1	GALNT2	DHCR7	TRIP11	RAB3GAP2	PPP1R12A	PIGN	USP9X	DISP1	MYT1L	FIG4	ZPR1	FAR1	PKDCC	PBX1	SPEN	KAT6B	RAD21	PLAA	FGFR2	ELN	RAB3GAP1	VPS13B	TBX1	QRICH1	KMT2E	KIT	TENM3	ADAMTS3	BMP1	UBE3B	MGP	RIPPLY2	FKBP6	PAM16	PIGB	BRD4	PIGL	HPDL	SMARCD1	GLIS3	SLC6A17	RUNX2	CSGALNACT1	GLI2	RAI1	KCNK9	B4GALT1	EPB41L1	FBN1	ZBTB18	BUD23	WDR37	PMM2	SATB2	MSL3	DNAJC30	HRAS	TFAP2A	TCF7L2	RNU4ATAC	PHIP	PUS7	PEX26	CLCF1	FLI1	BCL11B	GNE	SYNCRIP	VPS37D	POC1A	AASS	TUBGCP2	DEAF1	KIF11	CRLF1	IARS2	AGO2	PPP1CB	IGF1R	FGFR1	ZIC2	EMC1	TCF4	NOG	CCDC8	PIGT	PIGU	LRRC32	TRAPPC9	TUBB	DVL3	SETD5	SHH	AP4M1	IFIH1	USP27X	TAF1	PIGQ	THOC6	KAT8	SETD1A	ZNF81	ACTB	KIAA0753	MECP2	AFF4	KCNJ11	LRP4	PYCR2	EXOSC2	POLR3GL	PARS2	CANT1	APC	PIGG	GAS1	HDAC8	RALA	ATP6V1B2	KDM4B	CLTC	PURA	BCAS3	MTOR	NOVA2	CTCF	CTBP1	CHD2	GLB1	ACTG1	ANTXR1	ZMIZ1	FGD1	MAN1B1	ALG12	TBC1D24	PRKCZ	NEB	VPS51	UGP2	ZNF148	PTPRF	AP4B1	MESP2	RIN2	CERT1	TNPO2	ABCC9	TNRC6B	NEXMIF	UFD1	EDEM3	CCBE1	EXOC7	ADAMTSL1	ARID2	BRAF	ADNP	TMEM70	DIS3L2	TFAP2B	COL3A1	HIRA	KCNAB2	PPP1R15B	INPPL1	IREB2	DMD	CBL	COG1	ATP6V1E1	NUP107	SYNGAP1	OCRL	PIGS	ACSL4	ACTL6A	UBR7	HDAC6	CUL7	SETBP1	PDPN	DYRK1A	MAP3K7	TSPAN7	MAPK1	MED12	MUSK	SEC24C	ALX4	ITCH	SLC9A7	PSMC3	LTBP4	HS2ST1	ANKRD17	MYH3	AFF3	EXOSC1	POR	IL1RAPL1	GAD1	POGZ	AVP	SATB1	PQBP1	MAP2K1	ANKRD11	TAB2	BPTF	NEK9	GATAD2B	PAX3	KMT2A	TDGF1	GPC6	OCLN	PGAP3	EFTUD2	UGDH	CNOT3	TALDO1	CREBBP	KIFBP	MPC1	BAZ1B	RNF2	NOTCH2	TCTN3	MIR140	ARX	AP4S1	ERMARD	UBE2A	CUL4B	NLRP1	CRTAP	SIN3A	ATP6V0A2	ARHGEF2	SEC23A	SVBP	YARS2	KCNJ8	DENND5A	SOX11	TAOK1	FGF3	CHST14	MED12L	C12orf57	ZNF292	ALG9	UPF3B	ATN1	INTS1	WASF1	RPS6KA3	MOCS2	SLC35C1	ADSL	ALG11	TTC37	PTCHD1	NSD1	SON	B3GLCT	GRIA3	RREB1	IQSEC2	CLIP2	MOCS1	EXTL3	TMEM237	GTF2IRD1	MID2	OTUD6B	DVL1	SPECC1L	TRIO	HCFC1	ADAMTSL2	SMAD4	TGFB3	COMT	PRKACB	FLCN	TRMT1	PDHA1	DPM1	KCNJ6	KIDINS220	GTF2I	EZH2	NCF1	LMNB1	ROR2	DOCK3	MAPK8IP3	FOXL2	FBXO11	RYR1	TOR1A	NELFA	AP2M1	LETM1	DDX59	SMARCA4	BRPF1	OBSL1	ACTL6B	EIF2S3	ATG7	MYO18B	COLEC11	SLC26A2	DPYSL5	FOXG1	MID1	SLC25A24	TBCK	EED	RHOBTB2	ACTA1	WDR35	HNRNPU	KCNMA1	ZEB2	ARHGEF6	BCL7B	MYOD1	ARID1A	PUS1	SIX3	TASP1	CDON	ATRX	AUTS2	PIGV	PRDM16	RAB18	SMARCE1	NXN	HOXB1	NSD2	BRF1	SLC45A1	CCDC32	MAGEL2	SNRPB	TBL1XR1	CDK13	MAP1B	CAMTA1	ATP7A	CAMK2G	NSUN2	TRRAP	SMARCA2	ALG13	SLC6A1	SLC12A2	KCNH1	RFC2	COX7B	LTBP3	DLG3	STEEP1	BUB1B	MYH8	PRDX1	MYMK	SMPD4	IRX5	TMCO1	GRIA4	MAPRE2	TGIF1	PGAP2	XYLT2	MEF2C	AP3B1	FRMPD4	FOXH1	TBC1D20	RAB39B	NONO	NBAS	CDK10	KIF7	MRPS28	DLL3	CD96	CDKL5	DNMT3A	COL11A1	MADD	FLII	HNRNPH2	SPOP	COL11A2	AGTR2	PLOD3	MAF	WNT5A	PTH1R	SCN1A	TRPS1	WNT4	ZNF462	NTNG1	CLIC2	NAA10	FLNA	PSMD12	ERCC1	DYNC2H1	PRKDC	GP1BB	PAK3	NOTCH3	MLXIPL	TRIM8	CNOT1	MCTP2	ZNF41	MED13	XYLT1	GDI1	LIMK1	FTSJ1	KCNK4	NFIB	GNPTAB	VAC14	PUF60	HSD17B4	UBE4B	LMX1B	SLC35A1	BMP2	ARVCF	SUZ12	CDH11	KAT6A	HUWE1	IDH1	CDC6	CNKSR2	TAF6	ZNF699	CTNNB1	AP1S2	TANC2	AP3D1	SLC35A2	SOX4	METTL5	SMARCC2	EP300	PALS1	CSNK2B	TET3	B3GALT6	LFNG	ERCC6	NBN	CHSY1	CLCN6	SHOC2	KDF1	MMP23B	PITX2	SYP	KIF15	PIK3CA	TXNL4A	NRAS	EXT1	STXBP1	SUFU	GNB2	ABCC8	STAG2	TBL2	IFT57	ACER3	AP1G1	RIC1	PRKACA	EXOC2	FGFRL1	FGF8	CCNK	NFIX	DPYD	TMEM270	PPP2CA	FAT4	PPP2R5D	DPF2	DYNC2I2	HTT	SUMF1	B3GAT3	OFD1	KDM5C	RNF135	STX1A	CCDC22	ALG8	OPHN1	KLHL41	MEIS2	KRAS	CASZ1	LMBRD2	PIEZO2	JMJD1C	BCR	GTF2IRD2	TPM3	MTX2	NF1	PIGO	NKAP	PPP2R3C	LUZP1	HES7	TRMT10A	MAP2K2	TBR1	GJA1	ZC4H2	POLR3A	SHMT2	GABRD	SKI	PIGY	IFT80	DLL1	SH3PXD2B	LEMD2	PPP1R21	COG7	WDR4	ORC4	METTL23	JARID2
HP_BROAD_PHILTRUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_PHILTRUM	FGD1	SOX11	CDH11	SOX4	TBL1XR1	SNX14	TMCO1	ALX4	SMARCE1	SMARCA2	SMARCB1	ARID2	ARID1B	PIGO	SMARCD1	MAF	SMARCC2	PGAP2	WDR35	PIGY	RAC3	SMARCA4	KCNK9	PIGV	PIGL	SYNGAP1	SLC6A1	SLC2A1	CHD2	ARID1A	ERMARD	SPTBN1	COLEC11	SCN1A	DPF2	PIGW	NEXMIF	ZNF462	AP2M1	PGAP3
HP_ABNORMALITY_OF_THE_FOREHEAD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_FOREHEAD	FAM111A	KAT6A	AGRN	TBCE	NALCN	RTTN	SALL4	RRAS	DPM2	GPC3	CDC42	SKIV2L	TCIRG1	HSPG2	SPRTN	CDH2	SOS1	MED27	HDAC4	FAM149B1	PAK1	UNC45A	RUNX2	TGFB1	FANCF	EXOSC5	KATNB1	ERCC4	FANCD2	MAB21L1	COASY	PAH	RBM10	GTPBP2	ODC1	TUBG1	FZD2	PRMT7	WDR19	SRCAP	CTSK	FGF10	TECPR2	RNF13	STIL	EMC10	TOGARAM1	ADK	MITF	ARV1	TRIP12	EDA	GMNN	NAA10	NRAS	SMARCB1	NLRP3	MEG3	GLI3	STAT3	EFEMP2	MAD2L2	ATP1A2	MED13L	FANCA	CLCN3	TCF12	ATP1A3	SLC2A1	FGFR3	AP4E1	COPB2	FBXW11	DDX6	PIK3C2A	TCF20	BRAF	KREMEN1	RPL35A	NFKBIA	RPS26	FLNA	PSAT1	PEX12	UBA5	IFT81	SOX5	SCYL2	RTL1	TONSL	ARID1B	RPS15A	IGF2	WDR35	CSPP1	SYT1	ALX3	RLIM	ZDHHC9	KCNN3	KATNIP	ALDH6A1	GALNT2	STAMBP	FLT4	DYRK1A	MYT1L	HBB	FIG4	ZPR1	PKDCC	SPEN	RPL15	DYNC1I2	ADAT3	RAD21	FGFR2	LEMD3	SNRPN	VARS1	KRAS	LIG4	STIM1	OFD1	ATAD3A	TUBGCP6	MCPH1	ADAMTS3	SIK3	KIF14	PEX26	PAM16	CDH1	HPDL	SMARCD1	PEX5	CSGALNACT1	PEX16	RAI1	EMG1	MAGEL2	COL13A1	BUD23	WDR37	PMM2	FANCE	DNAJC30	ATP6AP1	ACTL6B	PNKP	PUS7	SPATA5L1	LGI4	FLI1	SYNCRIP	SCN1B	SLC16A2	TUBGCP2	DEAF1	TAPT1	PTCH1	AGO2	CCNQ	RPS19	FGFR1	EMC1	TMEM107	PIK3R1	OSGEP	PIGT	SLC1A3	FRMD4A	MKS1	TRIP13	EP300	DVL3	SPTBN1	NECAP1	CLTC	CHST3	KNL1	HNRNPK	KAT8	ETFA	CCND2	AFF4	COX4I1	CDK8	BRCA1	PYCR2	PIGK	COL1A1	KDM6B	APC	SUPT16H	HDAC8	ALDH18A1	RALA	ATP6V1B2	FLNB	PURA	ATIC	IFT122	KDM4B	AIP	SMOC1	CTBP1	RYR1	TCTN2	MEGF8	GLB1	ACTG1	TFAP2A	TMEM216	PEX7	TBC1D24	CENPE	AMER1	CDKL5	TMEM237	ZNF148	GABRA2	RPL5	SCUBE3	TNRC6B	ACTG2	SEC24D	CCBE1	BRWD3	GHR	CDKN1C	RAB3GAP1	NUP133	SYT2	RALGAPA1	USP9X	DIS3L2	LHX4	CRIPT	CEP290	KCNAB2	PPP1R15B	AGPAT2	NUP107	WASHC5	SYNGAP1	HCN1	OCRL	PEX19	ACTL6A	PIK3R2	UBR7	CPLANE1	SETD5	SETBP1	MAP3K7	NSUN2	PEX3	ZIC1	NAB2	MAPK1	PAFAH1B1	FOXC1	LTBP4	HS2ST1	PEX1	CPOX	SNX10	CPLX1	SIX2	NHEJ1	ERF	PEX11B	NIPBL	AP1S1	VAMP1	ANKRD11	CNOT3	SATB2	NIPA2	LZTR1	KIF7	BAZ1B	TCTN3	NEU1	EBP	ERMARD	POLE	LBR	TXNDC15	RMRP	TWIST1	SIN3A	GPR101	JAG1	SEC23A	CTCF	PDE6D	UBE2T	NBN	HESX1	PRUNE1	TAOK1	CHST14	FBLN5	MED12L	C12orf57	ZNF292	ASXL3	FBN1	ATN1	INTS1	MOCS2	NFIX	ADSL	RPL31	GJA5	MED12	NSD1	RFWD3	ANKLE2	B3GLCT	CASK	FUCA1	TSR2	MDH1	IQSEC2	DDX11	CLIP2	ACAN	RELN	GTF2IRD1	SPECC1L	TRIO	GPC4	RNU4ATAC	DALRD3	CWC27	PRKACB	CITED2	ALX4	SZT2	FLCN	PDHA1	HK1	CCDC88A	ABCC9	FRMPD4	AP4B1	NKX2-5	PREPL	GTF2I	TBCD	SCN2A	NKX2-6	DOCK6	NTRK2	AP2M1	INTU	COX5A	SLC25A1	LETM1	DLK1	TAFAZZIN	ACTB	YY1	SMARCA4	BRPF1	OBSL1	MYO18B	COLEC11	SMAD3	PTCH2	PLK4	CAVIN1	SLC25A24	SLC12A2	TBCK	SMC1A	DICER1	FUT8	RECQL4	MAPK8IP3	MRAS	HNRNPU	ZNF335	BUB1B	WDR73	CACNA1A	ARID1A	SLC3A1	MYOD1	TTC7A	TRAF6	AP4M1	ABL1	MKRN3	RPS10	TFAP2B	IKBKG	TASP1	ATRX	PRDM16	MTOR	VPS53	PIGN	POU1F1	KCNJ11	NSD2	CCDC32	FAT4	ZEB2	TBL1XR1	CAMTA1	HBA1	ATP7A	FGD1	ASXL1	CAMK2G	RERE	POLR2A	KCNJ6	KYNU	TRRAP	RAB3GAP2	EEF1A2	KCNH1	COX7B	KCNA2	SLC25A46	SIM1	SRC	STEEP1	KIAA0753	ELN	HMGA2	BMP4	KCNJ1	ATR	KCNJ2	LRP5	NTNG2	FOXP1	ETFB	PHEX	CYP2R1	SIK1	TBC1D20	NONO	RAD51C	GRM7	TCOF1	DLL3	STAT6	DLX3	BMPR1A	COL11A1	RPS24	SMARCA2	LAGE3	SPOP	RAB39B	MAF	PPP1CB	DNM1	SASS6	PIK3CD	CEP135	PTH1R	ARX	CKAP2L	TBX1	TRPS1	ZNF462	SKI	CC2D2A	GRIN1	PYCR1	SATB1	COL25A1	BRCA2	DYNC2H1	TBX2	PRKDC	NXN	CEP57	AP3B2	EDARADD	GATAD2B	GNPTAB	NOTCH3	CIT	RSPO2	MLXIPL	SUFU	GDF11	ADAM22	ARID2	ROR2	ZBTB18	NEUROD2	LRP1	XRCC4	ASPM	CNOT1	INPPL1	TSEN2	PITX2	CAMKMT	VPS33A	VAC14	PUF60	PROP1	IER3IP1	PEX13	NUS1	PTEN	KIDINS220	UBE4B	COL2A1	SCN8A	SUZ12	SNAP25	NOTCH2	HUWE1	IDH1	SLC12A6	CDC6	MPDZ	TANC2	MAB21L2	SOX4	BCAS3	POR	SMARCC2	SHOC2	TBX15	TSEN34	RPS20	BMP2	NPR2	SEPSECS	ERCC6	SP7	GPC6	MMP23B	KPTN	PIK3CA	SCN1A	UPF3B	CLCN7	B3GALT6	HS6ST2	RPGRIP1	MEF2C	COL27A1	POMT2	PEPD	IFT57	ACER3	IFT43	HRAS	WWOX	TRIM8	ADNP	RPS6KA3	ALX1	FGFRL1	CUL7	CCNK	DPYD	CCDC47	MAP2K2	BRIP1	PTHLH	PUM1	PPP2R5D	AIFM1	PEX10	DPF2	SOX6	CPT2	SETD2	RNF135	ZBTB20	STX1A	ATP6V1A	CCDC22	ATP6AP2	P4HB	TRAK1	EFNB1	DNMT3A	RPL11	MEIS2	CYP27B1	CTNND1	DHCR24	GTF2IRD2	MTX2	CCDC8	FGF12	LUZP1	HES7	TRMT10A	SETD1A	MID1	ATP6V0A2	B9D2	CTNS	GJA1	PEX6	ORAI1	ZNF711	CARS1	STAT5B	GABRD	CDK5RAP2	IFT80	PPP1R21	PCNT	KIFBP	WDR4	SLC25A22	EDA2R	JARID2	LARGE1	FAM50A	FKTN	UNC80	MYO9A	EED	NDN	PDX1	MSX2	SMG8	DOCK7	RIT1	SUMF1	FANCC	PLA2G6	LARP7	FBN2	EIF4H	GATA6	CTU2	TTC26	ERCC2	LRP2	LIFR	FH	GCK	CTSD	DSE	B9D1	NCAPD2	EBF3	RSPRY1	RPL10	PACS1	STRADA	SHPK	ARNT2	SPTA1	FRAS1	SC5D	LRP4	DDX59	SMC3	TBX4	PTPN23	SNX14	B4GALT7	SOX2	ERCC1	CRPPA	POLR1D	PHF8	COG4	RPL27	KNSTRN	PSPH	WDFY3	PDGFRB	MMACHC	DYNC2I1	D2HGDH	TTC37	KCNA1	PDE4D	HDAC6	WDR62	ZSWIM6	HYOU1	TSEN54	BCORL1	METTL27	TRAPPC4	NPAP1	DHCR7	GABRB2	CREBBP	TRIP11	TMCO1	PRKD1	TENT5A	SLC1A2	MAN2B1	FARSB	AARS1	KMT2E	RBBP8	BMP1	RIPPLY2	FKBP6	PIGB	BRD4	RNF113A	RAB18	OTUD5	KCNK9	EPB41L1	ITCH	GATA5	MBTPS2	TCF7L2	PHIP	PEX14	GDF1	IGBP1	GNE	VPS37D	POC1A	KIF11	IARS2	GABRA5	ZIC2	PTDSS1	TCF4	TMEM67	IL11RA	GON7	SNORD115-1	PIGU	DYNC1H1	CNKSR2	PARS2	NFIA	PGAP1	LMX1B	YWHAE	IFIH1	TAF1	XRCC2	THOC6	CDK6	SVBP	EXOSC2	SERPINH1	PTPN11	PIGG	AKT3	TTI2	NOVA2	ETFDH	INPP5E	AP1S2	RAF1	CHD2	PLAG1	NUP188	ANTXR1	NIPA1	FMR1	MAN1B1	INSR	RPS28	PRKCZ	UGP2	RPL35	IDUA	DLX4	GPAA1	FKRP	MESP2	TNPO2	PPP2R1A	NEXMIF	CUL4B	VDR	ADAMTSL1	BPNT2	ORC1	METTL5	PALB2	CHAT	PIGQ	VIPAS39	CBL	TSEN15	FANCG	PIGS	RPGRIP1L	SLC39A13	NF1	HERC1	SOST	PDPN	GJB2	SOS2	SLC9A7	TRIM37	TMEM231	ANKRD17	MYH3	APC2	EXOSC1	MBTPS1	KIAA0586	MAP2K1	CELF2	TAB2	KMT2A	OCLN	CAV1	SLX4	EXT2	RNPC3	PIGY	HBA2	TWIST2	IL2RA	TRPV4	GABRG2	MIR140	RRAS2	EIF2S3	MFSD2A	CHD1	UBE2A	MEN1	ABCC8	HOXD13	FOS	PCGF2	CEP152	KCNJ8	HERC2	DENND5A	PEX2	MBD5	WASF1	FGF13	SLC35C1	KCNQ1	ALG11	EDAR	SON	RPS29	DHDDS	MN1	MOCS1	EXTL3	NCAPD3	SH3PXD2B	GJB6	DVL1	IGF1	EPB41	CHD3	ZMIZ1	TRMT1	GATA1	RAD51	DPM1	RBM8A	INS	EZH2	NCF1	GPT2	LMNB1	KCNQ1OT1	DOCK3	SCN3A	FBXO11	KDM1A	NELFA	POLR1C	RPL18	CEP63	MMP2	GATA4	KANSL1	DDR2	MADD	FANCL	SLC26A2	DPYSL5	YWHAG	FOXG1	GNAO1	GLE1	PHGDH	TUBGCP4	LRPPRC	WAC	CA2	KCNMA1	BCL7B	SMG9	KCNB1	AP4S1	PPM1D	SYNJ1	BPTF	TBC1D7	NEPRO	TOPORS	SOX11	GPKOW	IFT140	NDE1	MED25	PPM1B	NARS1	SMARCE1	IFT52	COL1A2	FANCB	GRIN2D	AMPD2	ALG9	MAP1B	FANCI	VPS33B	CENPJ	SLC6A1	RFC2	POMT1	GYPC	PRDX1	BICRA	SPRED2	SMPD4	SLC5A7	GRIA4	ZFPM2	VPS13B	KDF1	NBAS	TCTN1	ADARB1	DMXL2	CYFIP2	FLII	MGP	SLC34A3	PIGL	WNT5A	SLC13A5	ADA2	COG5	BUB1	RNF2	ZFHX4	WNT4	NTNG1	BSCL2	FREM1	ACOX1	H19	WBP11	SNORD116-1	AMMECR1	VPS35L	SOX9	PSMD12	MED13	RARS2	C2CD3	LIMK1	KCNK4	NFIB	RPS17	RPS7	INTS8	KAT6B	HSD17B4	SIX6	KDR	PPARG	CDH11	KDM5B	SH2B1	RNF125	CDK19	TAF6	RPS27	DDB1	ZNF699	TP63	LHX3	CHRNA7	GNPAT	PALS1	NANS	TET3	TRAPPC9	LFNG	POLR3A	SPTB	STXBP1	TRAPPC14	CACNA1B	GNB2	STAG2	BUB3	TBL2	LARS1	PWAR1	AP1G1	NPHP3	ASNS	EXOC2	QARS1	GJA8	RASA2	FANCM	ALPL	DCHS1	GNS	GK	DPH1	TMEM270	PPP2CA	NCAPG2	ACP5	DYNC2I2	HTT	NCAPH	HECW2	B3GAT3	PPP3CA	KDM5C	RRP7A	OPHN1	SLC18A3	CASZ1	POLR1B	ERCC5	LMBRD2	RPL26	HIC1	ITGA3	P4HTM	TAF13	ZNHIT3	SLC25A19	SLC6A8	KCNJ5	PPP2R3C	PWRN1	IPO8	ZC4H2	PHC1	THOC2	PAK3	LEMD2	COG7	EIF5A	PIGP	BGN
HP_ABNORMALITY_OF_FACIAL_ADIPOSE_TISSUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FACIAL_ADIPOSE_TISSUE	LMNA	LMNB2	ERCC6	KCNJ6	ERCC8	PPARG	PSMB8	ZMPSTE24	POLR3A
HP_FULL_CHEEKS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FULL_CHEEKS	KDM6B	NALCN	B9D2	RTL1	IDS	ASXL1	MLXIPL	KMT2E	GNAS	EXTL3	DPM1	CCDC88A	CPE	TMEM216	DPYD	AIP	FBN1	KIDINS220	PIK3CA	H1-4	MAP2K1	ACTB	HSPG2	ZNHIT3	TCTN2	ACTG1	VPS33A	SIM1	IDUA	PUF60	IER3IP1	CREBBP	BICRA	PIGB	ELN	TAFAZZIN	B9D1	CSPP1	CDK5	WDR19	TMEM237	KCNH1	LMX1B	TECPR2	TCTN3	TGDS	SON	BMP2	KRAS	NOTCH2	EDN1	MAP3K7	EIF2S3	TXNDC15	PCLO	FLNA	TCTN1	ELMO2	DDB1	ATP7A	SC5D	SNX14	HRAS	GATA4	BRAF	PCNT	GPR101	IFT122	WDR26	CLCF1	SLC35A2	SH3BP2	KLHL7	NEK9	SLC37A4	MEG3	CEP290	PPP1R15B	EP300	WDR35	AGL	CRLF1	KIF1A	SHANK3	SOX11	FGF3	CLCN3	PAX1	TMEM107	TCF4	TRMT10A	SETD1A	OCRL	EYA1	SPTBN1	LMNA	PSPH	WAC	GNAI3	SETD1B	INTS1	TBCE	MAP2K2	SLC26A2	TFE3	MOCS2	TMEM67	RPGRIP1L	KIF11	PLCB4	SLC29A3	MKS1	NRAS	IARS1	CC2D2A	STXBP1	GNB2	RPGRIP1	YARS1	PIGQ	STAG2	PIGN	DLK1	PURA	STX16	IFT52	MOCS1	LARS1	SH3PXD2B	AFF4	TBL1XR1	TMEM231	ZPR1
HP_LOW_ANTERIOR_HAIRLINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_ANTERIOR_HAIRLINE	SMC3	SPEN	RPL15	HDAC8	ZIC1	FGFR3	RAD21	ARID2	GATA1	XRCC4	DPM2	ABCC9	DOCK7	NIPBL	ASXL1	TBC1D24	RAB3GAP2	HSPG2	MAN2B1	ANKRD11	LIG4	AIFM1	DOCK6	DPF2	FGFR2	POLR1C	RPL18	RPS17	RPS7	CAV1	PIK3C2A	TCF12	MAB21L1	INSR	BICRA	RPS28	BRD4	SMPD4	RAB18	TECPR2	SMARCD1	TWIST1	RPL35	TWIST2	KCNH1	SMARCA4	RPL11	PACS1	VPS13B	ARX	RPL5	PPARG	POLR1B	NOTCH2	FRMD4A	TBC1D20	ERMARD	SH2B1	VPS33A	RPL26	SLC12A6	TAF6	RPS27	ZNF699	TCOF1	CAVIN1	SLC25A24	SPATA5L1	LRPPRC	SMC1A	RALGAPA1	SOX4	RPS24	FOS	MED13L	SMARCA2	SMARCB1	SPOP	KCNJ8	PPP1R15B	SMARCC2	POLR1D	RPS20	AGPAT2	ADA2	NANS	ARID1A	RPS19	CLCN3	EMC1	RPL27	TRMT10A	BRCA1	NBN	KREMEN1	SLC35C1	RPL35A	RPS10	PEPD	RPS26	RPL31	SETD5	EP300	SOX11	PGAP1	MAP3K7	BSCL2	SMARCE1	NSUN2	ARID1B	RPS15A	RPS29	STAG2	TSR2	COG7	TBX2	KCNN3	CREBBP	TMCO1	IGF1	SVBP	ATP6V1B2
HP_FACIAL_HYPOTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_HYPOTONIA	STAG2	GAA	MECP2	POGZ	ASXL1	PCGF2	CAMK2G	KDM4B	ATP1A2	GPC3	POU3F3	UNC80	STRADA	AP4B1	VPS13B	PPP2R1A	TET3	AP4S1	ATP1A3	NGLY1	AP4E1	RAB11B	CHAMP1	YY1	KCNK4	CACNA1A	SLC1A3	MYOT	ZMIZ1	GPC4	KDM5C	HERC1	DSE	AP4M1	GRIA3	XYLT2	MAN2B1	PURA	PPP2R5D	PAX7	ZBTB11	AMPD2
HP_MASK_LIKE_FACIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MASK_LIKE_FACIES	ATXN8OS	MYH3	ITPR1	FKTN	NR4A2	POLG	ATXN2	KDM6A	ADH1C	EIF2AK2	TH	PABPN1	MRE11	KCNJ6	RIPK4	UBA5	FA2H	MT-TT	GBA	PANK2	PDGFB	KMT2D	UBE3A	GLUD2	FMR1	HSPG2	SLC6A8	PIEZO2	TBP	POMT1	MAPT	PDGFRB	FRG1	PAX6	DNMT3B	FKRP	DCTN1	SMCHD1	PLXND1	DUX4	SLC20A2	ATP13A2	ATP6AP2	PRNP	POMT2	SNCAIP	ATP6V1A	TK2	REV3L	ATP7A	ACTA1	LARGE1	TRIM32
HP_OVAL_FACE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVAL_FACE	PUF60	SOX18	B3GALT6	SPEN	SPTBN1	TSPEAR	SH2B1	CASK	TP63	CNTN1	HYOU1	EBF3	NFIX	ADARB1	EXOC2
HP_ABNORMALITY_OF_FACIAL_MUSCULATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FACIAL_MUSCULATURE	MECP2	MYO9A	AGRN	OPA1	MT-TE	CLCN4	GIPC1	HK1	GPC3	COL6A1	DNM1L	AP4B1	TCIRG1	KLHL41	DES	CHRNE	COL6A2	ALG2	MTMR2	ADSS1	ANKH	RAB11B	RYR1	YY1	MPZ	ABCA1	TGFB1	AMER1	ADCY6	BAP1	SYT2	SUCLA2	GPC4	SLC25A4	BIN1	SLC25A1	MSTO1	RNASEH1	MYH7	EYA1	TWNK	SMARCE1	DSE	TECPR2	MTRFR	SLC5A7	EBF3	BMS1	ATP13A2	ALS2	NEFL	COLQ	TRAF7	CHD7	ASAH1	STRADA	POLG	SLC18A2	LAMA2	TREX1	LARGE1	PEX5	SYNJ1	SEMA3E	GLE1	SLC52A3	TPM3	ITGA7	SH3TC2	FLNC	SBF2	COX6A2	PLEC	ACTA1	SNCA	LMOD3	SLC18A3	POU3F3	GFPT1	ARHGEF6	IRF2BPL	PPP2R1A	AP4S1	KY	MTMR14	ATP1A3	IQSEC2	FKRP	CRYAB	AP4E1	CHAMP1	COL6A3	CACNA1A	GJA1	GJC2	SLC6A3	TP63	ADA2	CHRNB1	SLC39A14	ZNF711	POLG2	POGZ	DOK7	MAP3K20	CHRNA1	SCN1A	GNE	HOXB1	RAPSN	TERT	POMT1	PDGFB	USP9X	AMPD2	ALG14	PIK3CA	TPM2	CC2D1A	FBXO7	DMPK	CHKB	ASXL1	CAMK2G	BAG3	CADM3	PLA2G6	PEX11B	COL13A1	MUSK	SPEG	ADCY5	VPS13B	TUBB6	FKTN	NGLY1	MYPN	SLC52A2	DCTN1	DLG3	BICRA	MYMK	SLC30A10	SOST	DNM2	GBA	SELENON	CLCN7	XYLT2	LRP5	BTNL2	KCNK9	DNAJB6	PEX6	FRMPD4	CNTNAP1	ZBTB11	RAB39B	PI4KA	TK2	REV3L	NECTIN1	DPAGT1	PODXL	ATP1A2	PPP2R2B	NEB	SLC25A42	COL4A1	AGTR2	GIGYF2	PEX14	CRLF1	CFL2	SPTBN2	SLC25A21	PTDSS1	HACD1	CHRND	EIF4G1	CACNA1S	ZFHX4	SLC1A3	KLHL40	TRPV4	PEX13	PEX19	ADGRG1	ABCD1	DNA2	TUBB3	AP4M1	YARS1	COL25A1	USP27X	PLXND1	PURA	ZNF81	FTL	PAK3	CHCHD10	HLA-DRB1	DNMT3B	TTN	SUPT16H	KDM4B	LRP4	MYL2	PEX1	VCP	DNAJC6	FRG1	RRM2B	MGME1	SRPX2	TRIM32	ZNF41	SLC19A3	GDI1	FTSJ1	KCNK4	GSN	TFAP2A	LRP12	KBTBD13	ZMIZ1	IRF6	SCN4A	JAM2	ITGB4	SIX1	NF2	ANO5	LRRK2	SLC9A7	PPP2R5D	SNAP25	SMO	PAX7	SALL4	DNAJC13	MT-CO3	PTRH2	MYL1	SLC12A6	CNKSR2	AKT1	LRIF1	GAA	MTM1	ATXN1	LAMB2	POMT2	CHAT	DMD	TET3	SURF1	ACSL4	SMARCB1	NOTCH2NLC	MYOT	GAN	GDAP1	CAPN3	SYP	TXNL4A	HERC1	SUFU	PEX2	SQSTM1	TSPAN7	COL12A1	MED12	PRRT2	PEX16	STAG2	CRPPA	IL1RAPL1	SNX10	ATP6AP2	ACTN2	PABPN1	VAMP1	MEGF10	SPTBN4	PEX12	GMPPB	KDM5C	MID2	SMCHD1	ACADS	PUF60	DLL4	MAN2B1	ARX	ALG13	STEEP1	MT-TN	PLAA	CLCF1	PCGF2	SYNE1	UBA1	NOD2	UNC80	YME1L1	PEX10	PEX3	SCO2	NUTM2B-AS1	LPIN1	MSX1	VPS35	UPF3B	SGCD	RPS6KA3	MT-CO1	PEX26	ZC4H2	SHMT2	JAG2	PTCHD1	SPR	GRIA3	AK9	TNFSF11	PRKCG	NARS2	SIX5	HCFC1
HP_MANDIBULAR_PROGNATHIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MANDIBULAR_PROGNATHIA	KDM6B	KAT5	UBE3A	APC	RAF1	SMAD4	TTN	SUFU	PRKACB	RPL10	FLCN	SFRP4	GPC3	AGA	AIP	ALG14	SLC6A17	HERC2	FBXW11	KCTD1	ANKH	PRKAR1A	PIGW	CHRNE	RUNX2	PAX3	ANTXR1	IDUA	EXOSC5	FMR1	GPC4	ATAD3A	CACNA1G	INSR	TAFAZZIN	MYH8	SRCAP	SNRPN	PIGL	COLQ	GORAB	PPARG	NEXMIF	CDH11	KAT6A	CUL4B	LRP5	RNF125	PTCH2	FOXG1	ADAMTSL1	TNNI2	ERCC1	FGFR2	CAVIN1	SLC25A24	EHMT1	SLC12A2	TBCK	SLC35A2	PTCH1	PTPN11	LAMB2	TPRKB	ERCC8	AIMP2	BSCL2	AGPAT2	ZEB2	PIGV	CSNK2B	CLCN3	MYOD1	SMS	OCRL	TONSL	AP4M1	ACAN	FAM20C	RAI1	GJA1	KPTN	MSTO1	TBC1D7	ATP10A	TXNL4A	CUL7	HERC1	UPF3B	SOST	MED25	HNF1B	PDE4D	APC2	GNB2	HS6ST2	GLB1	NHS	ERCC4	GNPTAB	SUZ12	RPS6KA3	FGFR1	MAGEL2	IL1RAPL1	SVIL	MYH3	RTL1	STAG2	AFF3	FBN1	POGZ	GALNS	OPHN1	PQBP1	MAN2B1	KCNH1	RECQL4	DYM	TGFB1	CAV1	LRP4	PGAP3	STEEP1	CNOT3	KDM5C	OCA2	SETD2	SMPD4	RNF113A	NSD1	RUSC2	PGAP2	MEG3	FOXP1	PUF60	ERCC6	PTEN	PMM2	SLC9A6	PRKG2	GPR101	P4HTM	MEN1	DNMT3A	SELENON	FLII	FOS	PCGF2	GFPT1	MED13L	PIGO	POC1A	MAF	DEAF1	KIF11	SLC6A8	IARS2	SOX18	CLCN4	PTDSS1	SLC35C1	NFIX	CLIC2	EZH2	AP1S2	MESD	DLK1	DOCK3	ADAMTSL4	PIGY	GRIA3	SH3PXD2B	MYH7	IQSEC2	TNFSF11	PYCR1	LTBP3	TWIST2
HP_ABNORMALITY_OF_THE_CHIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CHIN	UBE3A	RAF1	SMAD4	PRKACB	RPL10	ZEB2	EED	FLCN	SFRP4	KANSL1	GPC3	AGA	GTF2I	ACTB	NCF1	LMNB1	ANKH	YY1	CDH2	EIF4H	ZBTB24	TWIST2	PIGW	RUNX2	PAX3	AIP	IDUA	EXOSC5	CTU2	GPC4	ATAD3A	MAN1B1	TAFAZZIN	ZMPSTE24	SRCAP	EBF3	RNF13	OBSL1	COLQ	GORAB	EIF2S3	MADD	CRKL	LMNA	PTCH2	FOXG1	CHD1	TNNI2	PLK4	TUBGCP4	CAVIN1	SLC25A24	EHMT1	SLC12A2	WAC	TBCK	PTPN11	EDA	TPRKB	AIMP2	NALCN	SHANK3	SETBP1	BCL7B	PTF1A	MYH3	CLCN3	MYOD1	TONSL	SPTBN1	KNSTRN	HRAS	AP4E1	CHAMP1	DHX37	AP4M1	ACAN	FAM20C	BRAF	RAI1	PDGFRB	ABL1	GJA1	TBC1D7	ATP10A	MED25	TMEM94	HNF1B	PDE4D	APC2	PIGV	PRDM16	SMS	POGZ	CHD7	IGF2	ARID1B	MTOR	NHS	METTL27	GNPTAB	ERF	RPS6KA3	FGFR1	MAGEL2	SVIL	FIG4	CAMTA1	SPEN	CHD8	RERE	KCNJ6	DNM1L	GALNS	NSUN2	ELN	ALG13	DDR2	MAN2B1	ERCC8	KCNH1	RFC2	COX7B	TGFB1	STEEP1	FGFR2	MYH8	OCA2	BICRA	FKBP6	PIGB	SMPD4	RNF113A	NSD1	RUSC2	PGAP2	PIK3R1	SLC6A17	OTUD5	FOXP1	ERCC6	ITCH	FLNA	BUD23	PMM2	CDK10	DNAJC30	TLK2	BMPR1A	DNMT3A	SELENON	FLII	PAPPA2	GFPT1	SPOP	VPS37D	POC1A	MAF	DST	DEAF1	KIF11	PTCH1	IARS2	SOX18	PIK3CD	COA6	PTDSS1	CCDC8	SMARCA2	FN1	PIGU	CLIC2	NFIA	CHRNG	PIEZO2	ANKRD11	KDM3B	BSCL2	MESD	DLK1	DOCK3	TAF1	H19	CLCN4	THOC6	PRKDC	PYCR1	LTBP3	SOST	RECQL4	SNRPN	PQBP1	PORCN	NFIX	PARS2	KDM6B	KAT5	APC	TTN	MLXIPL	SUFU	RALA	LRP1	XRCC4	ALG14	AP1S2	HERC2	FBXW11	KCTD1	SPECC1L	LIMK1	ACTG1	PRKAR1A	CHRNE	TFAP2A	ANTXR1	VAC14	TBX22	FMR1	CACNA1G	INSR	PRKCZ	PTEN	ZNF148	UBE4B	LMX1B	SEMA3E	PIGL	SCUBE3	PPARG	NEXMIF	CDH11	KAT6A	CUL4B	LRP5	RNF125	ADAMTSL1	ERCC1	FGF3	SLC35A2	LAMB2	NOTCH2	KCNAB2	SETD2	AGPAT2	ATP6V1E1	CSNK2B	OCRL	PIGS	CYP26C1	MMP23B	POLR3A	KPTN	MSTO1	TXNL4A	CUL7	HERC1	UPF3B	PDPN	MAP3K7	STXBP1	GNB2	HS6ST2	SLC37A4	GLB1	MEF2C	MAPK1	TBL2	ERCC4	SUZ12	IL1RAPL1	TUBGCP6	RTL1	STAG2	AFF3	FBN1	HSPG2	DYRK1A	OPHN1	TMEM270	DYM	CAV1	LRP4	PGAP3	UGDH	CNOT3	KDM5C	STX1A	NDUFS4	TWIST1	BAZ1B	MEG3	PUF60	MEIS2	HS2ST1	CASZ1	MRAS	SLC9A6	PRKG2	SNX14	GPR101	P4HTM	MEN1	BCR	GTF2IRD2	FOS	PCGF2	MED13L	PIGO	SLC6A8	SOX11	TRPS1	LUZP1	MED12L	ZNF292	ASXL3	MBD5	SLC35C1	EZH2	COL2A1	MED12	GABRD	SKI	ADAMTSL4	PIGY	GRIA3	SH3PXD2B	MYH7	PPP1R21	IQSEC2	CLIP2	KIFBP	TNFSF11	GTF2IRD1	TRIO
HP_POINTED_CHIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POINTED_CHIN	TUBGCP6	MLXIPL	SPEN	HSPG2	ZEB2	POGZ	RALA	CHD8	CUL7	RERE	DNM1L	ELN	INSR	TMEM270	GTF2I	ACTB	NCF1	LMNB1	RFC2	LIMK1	YY1	CDH2	EIF4H	ACTG1	UGDH	MAN1B1	SETD2	BICRA	FKBP6	PIGB	PRKCZ	STX1A	SPOP	NSD1	ZNF148	TAF1	BAZ1B	OTUD5	UBE4B	MEIS2	OBSL1	HS2ST1	SCUBE3	CASZ1	CDH11	FLNA	BUD23	KAT6A	CHD1	MADD	CRKL	MRAS	CDK10	DNAJC30	PRKG2	SNX14	PLK4	TUBGCP4	FGF3	BCR	GTF2IRD2	NOTCH2	CCDC8	KCNAB2	VPS37D	POC1A	SHANK3	SETBP1	BCL7B	ATP6V1E1	MYH3	LUZP1	MED12L	SPTBN1	HRAS	AP4E1	FN1	CHAMP1	ZNF292	DHX37	PDGFRB	ABL1	MMP23B	POLR3A	PIGU	KIF11	TBC1D7	CHRNG	COL2A1	ANKRD11	PDPN	KDM3B	TMEM94	MAP3K7	MESD	DOCK3	PRDM16	GABRD	SKI	SLC37A4	MAPK1	CAMTA1	CLCN4	PORCN	THOC6	METTL27	TBL2	CLIP2	KIFBP	GTF2IRD1	NFIX
HP_MICRORETROGNATHIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICRORETROGNATHIA	CANT1	KCNK9	TTN	SYT2	SELENON	KAT6A	MYO9A	GAD1	AGRN	RSPO2	FBXL3	GMNN	NAA10	CRIPT	RTTN	CHAT	SF3B4	SLC10A7	CEP120	C2CD3	EBP	VAMP1	CHST14	EIF4A3	BANF1	DSE	PAX1	SLC35A3	INTS1	RELN	OCLN	IPO8	B3GAT3	KATNB1	TASP1	NSDHL	PUF60	NSMCE2	CTNND2	SLC25A1	RPL10	SLC5A7	OFD1	TELO2	YARS1	SEMA5A	TRIP4	TAF1	CSGALNACT1	PIGN	ORC6	MYH7	SLC18A3	ALG9	SNAP25	KPTN	COL13A1	SEC24D	TMEM70	CEP55	NDE1	ZC4H2	SIN3A	GLI3	KIF7	CHST3
HP_ABNORMALITY_OF_THE_MIDFACE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MIDFACE	FAM50A	KAT6A	COL2A1	CLCN4	RRAS	CDKN1C	RAC3	GPC3	TAT	CDC42	RIT1	CEP120	HSPG2	LARP7	NECTIN1	HDAC4	GATA6	RUNX2	IDUA	LIFR	ODC1	FBLN5	USB1	DSE	B9D1	PRMT7	WDR19	LMNA	TWIST1	FGFR1	XRCC4	RSPRY1	LRP5	TECPR2	RNF13	NSDHL	LBR	GORAB	BICD2	ESCO2	CRKL	FGFR2	LTBP1	PCLO	CILK1	MITF	ATP7A	SC5D	SIX1	TBX4	SEMA3E	CHST3	EHMT1	DHODH	GMNN	B4GALT7	MEG3	POLR1D	ATP6V1A	SHANK3	KMT2C	CLCN3	TCF12	TGFBR1	TONSL	SPTBN1	HRAS	CPLX1	KDM6A	PSPH	DHX37	TCF20	FAM20C	RAI1	FLNA	IFT81	PDE4D	ZNF711	PLP1	SEMA5A	ALX3	GATA1	TGFBR2	PTRH2	RAB3GAP2	COL11A2	FLT4	USP9X	HBB	ZPR1	GLI2	IDS	ERF	TBX1	MAN2B1	KRAS	FGFR3	UBE3B	FBN1	MGP	SLC26A2	PIGB	COL9A2	CDK19	OTUD5	CSGALNACT1	TGDS	EPB41L1	ITCH	GATA5	BCOR	SATB2	MSL3	SLC2A10	TFAP2A	HDAC8	CLCF1	GDF1	TSEN54	GNAS	LOXL3	TUBGCP2	DEAF1	CRLF1	IARS2	TMEM107	TCF4	PIK3R1	OSGEP	CCDC8	TP63	GNAI3	TFE3	EIF2AK3	TMEM67	SALL1	PIGU	KIF11	LRRC32	SLC29A3	ACAN	MKS1	TMEM260	IARS1	NTRK1	DVL3	MESD	COL11A1	ZIC1	YARS1	USP27X	PIGQ	FZD2	NDUFB11	HNRNPK	STX16	KCNE5	ZNF81	ACTB	MECP2	PYCR1	AFF4	ACP5	SVBP	LRP4	SERPINH1	KCNJ2	PTPN11	CANT1	KDM6B	FLNB	SNRPN	CPE	AIP	PEX12	EBP	CTCF	RAF1	AIFM1	CTBP1	SIX3	TCTN2	MEGF8	NSMCE2	ACTG1	HSPA9	ANTXR1	PRKAR1A	TBX22	ZMIZ1	MAN1B1	ALG12	PEX7	PRKCZ	CSPP1	CTDP1	CDK5	TMEM237	DLX4	LZTR1	UFD1	COG4	SEC24D	CCBE1	BRAF	PIGT	KLHL7	SLC37A4	LHX4	TFAP2B	HIRA	CEP290	KCNAB2	PPP1R15B	IREB2	SF3B4	DMD	EDNRA	WASHC5	COG1	OCRL	PIGS	ACSL4	SOS1	RPGRIP1L	CUL7	HERC1	SETBP1	SOST	PDPN	MAP3K7	GSC	TSPAN7	PDGFRB	MAPK1	NRAS	SOS2	MED12	SEC24C	SLC9A7	PSMC3	SIX5	FOXC1	EXT2	COL9A3	LTBP4	TMEM231	MYH3	RFWD3	NALCN	B9D2	RTL1	POR	IL1RAPL1	POGZ	SLC35D1	KMT2E	EFTUD2	PKD2	SPEN	H1-4	MAP2K1	BPTF	B3GALT6	PQBP1	GPC6	MRPS14	CNOT3	CREBBP	TSR2	HBA2	TCTN3	NOTCH2	ARX	RRAS2	EIF2S3	GHR	POLE	UBE2A	TXNDC15	ARID1B	ELMO2	SNX14	GPR101	SYK	JAG1	CCDC22	PCGF2	MED13L	COL9A1	SEC23A	NBN	HESX1	SOX11	FGF3	ASXL3	UPF3B	INTS1	RPS6KA3	MOCS2	KCNQ1	GJA5	CTNND2	FOXG1	KIF7	PTCHD1	SON	DLG3	ADAMTSL4	B3GLCT	GRIA3	RREB1	IQSEC2	MN1	CBL	MOCS1	EXTL3	SH3PXD2B	RBM8A	DVL1	SPECC1L	GPC4	RNU4ATAC	HCFC1	SPART	SMAD4	CHD3	TGFB3	COMT	CITED2	HK1	DPM1	CCDC88A	NKX2-5	AMMECR1	KIDINS220	NKX2-6	KCNQ1OT1	ROR2	EYA1	ZNHIT3	RYR1	YY1	PYCR2	POLR1C	HCCS	PITX2	TAFAZZIN	GATA4	FIBP	DDR2	OBSL1	CHD7	EDN1	LRP2	SALL4	NGF	BBS7	SMAD3	CHD1	MID1	SLC25A24	LRPPRC	SMC1A	WDR35	MRAS	STRADA	HNRNPU	ARHGEF6	WDR73	NDP	COL5A1	NF1	WAC	WDR26	TASP1	NEPRO	ATRX	AUTS2	AGL	PIGV	PRDM16	MTOR	PIGN	NXN	POU1F1	RAB3GAP1	HOXB1	DLK1	IFT52	NSD2	BRF1	FAT4	SNRPB	AMPD2	TBL1XR1	TUBB4A	HBA1	ANKRD17	EFEMP2	ASXL1	RERE	SMCHD1	INPPL1	SIM1	BUB1B	PRR12	KIF22	BICRA	SPRED2	ELN	IRX5	TMCO1	BMP4	STAC3	XYLT2	ZFPM2	PTH1R	IGF2	VPS13B	BLM	FRMPD4	RAB39B	NONO	ZBTB20	TCTN1	LRP1	TCOF1	PCNT	FLII	HNRNPH2	MYSM1	AGTR2	PLOD3	POMGNT1	MAF	COL1A1	WNT5A	PPP1CB	KIF1A	PEX1	FN1	SETD1B	TBCE	LINS1	ZNF462	POLR1B	RDH11	ANKRD11	COX7B	CC2D2A	GRIN1	PSMD12	SATB1	RLIM	ATP6V0A2	WBP11	PURA	GP1BB	PAK3	WASF1	AEBP1	MBD5	NOTCH3	GDF11	MLXIPL	TMEM216	APC	ZNF41	CTSK	GDI1	FTSJ1	VPS33A	KLLN	KAT6B	PUF60	PROP1	IER3IP1	KMT2D	POP1	KCNH1	UBE4B	LMX1B	BMP2	ARVCF	KDR	CDH11	CNKSR2	FOXP1	DDB1	NSMCE3	SLC35A2	POLR1A	LHX3	EP300	PAX1	SLC6A8	CYP26C1	SP7	NPR3	RPS26	MMP23B	POLR3A	PLCB4	SYP	KIF15	TXNL4A	ZNF407	H19	STXBP1	TMEM165	GNB2	DACT1	RPGRIP1	STAG2	LAS1L	LARS1	PTCH1	MAFB	CHN1	PRKACA	RASA2	DCHS1	ALX1	FGFRL1	ANK1	DPYD	NFIX	PIK3CA	CCDC47	PPP2R5D	HECW2	B3GAT3	PAX3	SETD2	MID2	SCARF2	P4HB	BCL11A	COL18A1	RAB23	SHH	CASZ1	ALG13	STEEP1	NGLY1	JMJD1C	IFT122	BCR	SH3BP2	NEK9	MIR140	RHOA	SH2B1	YME1L1	LETM1	NKAP	ATP6V1E1	LUZP1	BANF1	RPS28	TRMT10A	SETD1A	NAA10	MAP2K2	PIGA	GABRD	SKI	LEMD2	DNMT3B	BGN
HP_ROUND_FACE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ROUND_FACE	CANT1	KDM6B	KAT5	DNMT3A	FGD1	TMEM67	EED	KDM4B	ZBTB18	GNAS	CPE	COL6A1	EZH2	AFF4	ANKRD11	CHSY1	COL6A2	EXOC8	MAPK8IP3	SPECC1L	P3H1	KMT2A	ZBTB24	HDAC4	PRKAR1A	TOR1A	COL11A2	PIGW	LTBP3	COL2A1	PGAP3	TTC26	XYLT1	PAM16	CENPE	TAFAZZIN	FIBP	TECPR2	PGAP2	GNAI3	CSGALNACT1	LMX1B	PDE4D	BRPF1	FBN1	LMNA	PIGL	SUZ12	NEXMIF	ACTG2	EIF2S3	SH3BP2	CRTAP	ITGA3	HRAS	ADARB1	MRPS28	PHIP	SMC1A	DIS3L2	SLC37A4	MED13L	PIGO	PPP1R15B	CACNA1C	PDE11A	SLC10A7	PIGV	PEX1	TRMT10A	TRAPPC9	ARMC5	COL6A3	ALMS1	PTEN	ECEL1	KIF15	PEX6	NRAS	IARS1	CTNND2	B3GLCT	STXBP1	NSD1	PLCB4	MRPL12	PIGY	SEMA5A	HOXD13	SEPTIN9	STX16	PEX2	COL11A1	AKT1	ADAMTSL2
HP_HYPERTELORISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTELORISM	RERE	ACY1	OFD1	NTNG2	ZEB2	EED	RB1	MAT2A	RRAS	COL1A2	RAC3	GPC3	AGA	CDC42	SKIV2L	RIT1	NKX3-2	FANCC	CEP120	PAX3	HSPG2	TRIP12	CDH2	SOS1	MED27	TCF3	FAM149B1	PIGW	GREB1L	RUNX2	ERCC3	FANCF	CTU2	KATNB1	ERCC4	TTC26	FANCD2	LRP2	RBM10	ODC1	USB1	FH	DSE	B9D1	PRMT7	UMPS	SLC2A10	WDR4	RSRC1	TWIST1	CHRNG	EBF3	SALL4	RSPRY1	TRIP4	FGF10	RAPSN	TBCD	BRCC3	PACS1	CASK	FAM111A	TGFBR2	ESCO2	FGFR1	DEF6	EMC10	TOGARAM1	ADK	MARS2	FRAS1	CNTNAP2	LRP4	DDX59	TBX4	SEMA3E	CHST3	PTPN23	GNRHR	EHMT1	MED25	LRRC8A	B4GALT7	TPRKB	IGHM	GLI3	STAT3	CPLX1	FREM2	COLEC10	POLR1D	EFEMP2	ATP6V1A	MAD2L2	NALCN	SHANK3	MED13L	FANCA	SETBP1	SKI	CLCN3	RPL27	NCDN	TGFBR1	TONSL	SPTBN1	KNSTRN	HRAS	DHX37	FBXW11	WDFY3	DDX6	FAM20C	BRAF	KREMEN1	RPL35A	GJA1	TCF20	RPS26	FLNA	PSAT1	TTC37	FUCA1	NSMF	TMEM94	PDE4D	TARS1	TELO2	PLP1	SMS	RPS15A	JAG1	CSPP1	SEMA5A	ALX3	TCIRG1	BCORL1	RLIM	SUFU	KATNIP	ALDH6A1	GALNT2	DHCR7	PTRH2	PPP1R12A	PIGN	MYH11	STAMBP	RPS6KA3	TMCO1	MYT1L	FIG4	FAR1	ERGIC1	SPEN	RPL15	PDHX	ADAT3	CHD8	PIK3CD	KAT6B	LEMD3	COL2A1	ELN	TBX1	DNMT3B	KRAS	FGF20	LBR	MYPN	ZMPSTE24	QRICH1	KMT2E	TENM3	ADAMTS3	UBE3B	SIK3	FGFR2	TMEM138	PIGB	CDH1	PIGL	NSD1	HPDL	CDK19	RUSC2	PEX5	HELLS	OTUD5	CAMK2A	RAI1	TGDS	B4GALT1	EPB41L1	MICU1	ZBTB18	LMBR1	WDR37	PMM2	FANCE	ALG6	ACTL6B	CHRND	TCF7L2	RNU4ATAC	PHIP	PUS7	GATA6	FLI1	SIAH1	BCL11B	TWIST2	GNE	SYNCRIP	KLHL41	SOX9	POC1A	SMAD4	DEAF1	ALX4	EP300	TAPT1	PTCH1	AGO2	SMAD2	PPP1CB	RPS19	GBA	ZIC2	PTDSS1	TMEM107	MASP1	PIK3R1	OSGEP	SLC26A2	TFE3	EIF2AK3	TMEM67	IL11RA	GON7	TRAPPC9	MKS1	KISS1	MYLK	ACTA1	DVL3	NF1	EMC1	MAPRE2	ZIC1	TAF1	KNL1	HEY2	XRCC2	FZD2	KAT8	SETD1A	ACTB	ATP6V1B2	BRCA1	MYOD1	PYCR2	KCNJ2	PTPN11	PARS2	APC	PIGG	SUPT16H	RAD21	AKT3	FLNB	RIPK4	BCAS3	FGF17	MTOR	SNRPN	KDM4B	ZBTB24	CTCF	RAF1	CTBP1	RYR1	C12orf57	TCTN2	SPRED1	MEGF8	ACTG1	COL11A2	TFAP2A	PSMD12	KBTBD13	ANTXR1	PRKAR1A	ZMIZ1	FGD1	CACNA1G	MAN1B1	TMEM216	TBC1D24	RPS28	NEB	VPS51	DCHS1	CENPF	CCDC32	TMEM237	RPL35	DLX4	LZTR1	PHACTR1	NKX2-5	RPL5	PPP2R1A	TNRC6B	WDR11	PPP2R5D	UFD1	EDEM3	SEC24D	CCBE1	DDX3X	FGF3	TFAP2B	HIRA	LMNA	CEP290	PALB2	INPPL1	CBL	COG1	ATP6V1E1	WASHC5	FANCG	ACTL6A	CNTN1	PIK3R2	ITGA8	UBR7	RPGRIP1L	SLC39A13	PITX1	CPLANE1	HERC1	SMO	SOST	MAP3K7	TP53RK	KLF13	FGFR3	NSUN2	TGFB3	PEX3	NRAS	SOS2	MUSK	SEC24C	ITCH	CDCA7	MAPK1	ERCC2	FREM1	SUZ12	PAFAH1B1	FOXC1	TPM3	EXT2	TRIM37	LTBP4	CD79B	TMEM231	HS2ST1	ANKRD17	B9D2	AFF3	SRCAP	GAD1	SIX2	AVP	SATB1	KIAA0586	MAP2K1	INSR	SNAP29	ANKRD11	BPTF	FOXF1	GATAD2B	KMT2A	PGAP3	SLX4	MRPS14	CNOT3	ANKH	MAP2K2	TUBB	PEX6	DNAJC21	COLEC11	ASXL2	KIAA1109	HBA2	KIF7	ALG13	RNF2	TCTN3	FGF8	MAN2B1	MIR140	RRAS2	HS6ST1	AP4S1	ERMARD	MRAS	UBE2A	TXNDC15	FBN1	ARID1B	SIN3A	ATP6V0A2	PROK2	TCF12	CCDC22	SEC23A	SVBP	WDPCP	PDE6D	CENPJ	UBE2T	TAOK1	HACE1	CHST14	MED12L	ZNF292	ASXL3	ALG9	INTS1	WASF1	PTEN	MOCS2	RELN	SLC35C1	GPC4	ZMYM2	RPL31	CTNND2	MED12	RFWD3	RPS29	EPG5	B3GLCT	TXNL4A	PYCR1	WDR73	TSR2	RREB1	IQSEC2	MN1	MOCS1	SH3PXD2B	OGT	DVL1	SPECC1L	TRIO	SPART	CHD3	COMT	PRKACB	BNC2	FLCN	TRMT1	RPS7	GATA1	RAD51	DPM1	EZH2	EBP	LMNB1	ROR2	DOCK3	MAPK8IP3	ERF	FBXO11	DOCK6	ALDH18A1	AHDC1	NELFA	POLR1C	RPL18	AMER1	SET	INTU	MPLKIP	PITX2	MMP2	ALG1	LETM1	FIBP	DDR2	CHD7	BRPF1	GTF2E2	NFIX	BBS7	SLC29A3	FANCL	DPYSL5	SMAD3	PTCH2	DUSP6	MID1	ZSWIM6	PHGDH	CHD4	SLC25A24	PACS2	LRPPRC	WAC	DICER1	RECQL4	EFNB1	SLC1A4	WDR35	STRADA	HNRNPU	KCNMA1	SMG9	MYH3	TTC7A	TGFB2	KCNN3	RPS10	TASP1	TOPORS	ATRX	AUTS2	PIGV	POGZ	NARS1	NXN	IGLL1	NSD2	GLE1	COL11A1	FANCB	SLC45A1	FAT4	TBL1XR1	CDK13	AKT1	FANCI	CAMTA1	HBA1	KIAA0753	TACR3	ASXL1	COL1A1	POLR2A	EXTL3	TRRAP	AP1G1	SLC12A2	AFF4	KCNH1	COX7B	PRKG1	LIG4	BUB1B	BICRA	SPRED2	DOK7	IRX5	GRIA4	ADGRG6	PGAP2	XYLT2	GPAA1	LRP5	FOXP1	PPP3CA	NBAS	RAD51C	CDK10	TCTN1	TCOF1	NFASC	ABCC9	BMPR1A	TNFRSF11A	DNMT3A	FLII	RPS24	HNRNPH2	KISS1R	CCND2	MAF	THRA	WNT5A	ADA2	WNT9B	NUP88	PEX1	PTH1R	SMARCA2	TBCE	PEPD	NTNG1	EXOSC9	TAC3	PIGO	CC2D2A	ACOX1	CHRNA1	BRCA2	TBX2	GRIP1	GP1BB	YWHAE	NDE1	NOTCH3	CIT	VPS35L	ABCD4	ALG8	MCTP2	CD79A	PRPS1	MED13	SPRY4	BLNK	LAGE3	NKX2-6	RPS17	INTS8	HMGA2	VAC14	HSD17B4	SPOP	CHRNA7	VSX1	BMP2	ARVCF	CREBBP	CDH11	NOTCH2	RMRP	HUWE1	SLC12A6	RPS27	TPM2	NUP107	ZNF699	MFAP5	TANC2	RET	NSMCE3	NONO	POR	SHOC2	TBX15	MADD	RPS20	PALS1	CHSY1	CLCN6	POLR3A	IFT43	KIF15	PIK3CA	SCN1A	GTF2H5	MGAT2	HDAC8	RPGRIP1	SLC37A4	MEF2C	PROKR2	COL27A1	ZIC3	IL1RAPL1	EXOC2	RASA2	FANCM	LOX	ALX1	FGFRL1	CTNND1	GK	ANK1	CCNK	DPYD	DPH1	CCDC47	PPP2CA	BRIP1	AIFM1	SOX6	KDM1A	HTT	B3GAT3	NUP133	ACTA2	SRD5A3	PLCB3	COL3A1	RNF113A	RPL11	POLR1B	GNRH1	GLB1	SLC18A3	LMBRD2	RPL26	ITGA3	PIEZO2	NGLY1	JMJD1C	B3GALT6	SHROOM4	SH2B1	WARS2	KCNJ5	SPINT2	FOXE3	TBR1	BMPER	IPO8	CSNK2A1	POLR1A	PIGA	SMARCD1	THOC2	ZMYND11	PIGY	PPP1R21	EIF5A	KIFBP	PEX2	TRAPPC4	SMCHD1	DPF2	BGN	JARID2
HP_FACIAL_MYOKYMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_MYOKYMIA	SPTBN2	ATP13A2	ABCD1	PRKCG	ADCY5	PPP2R2B
HP_SMOOTH_PHILTRUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMOOTH_PHILTRUM	CANT1	RERE	TGFB3	NTNG2	UNC80	ZMIZ1	RAI1	RAD21	NALCN	FLCN	RTTN	TRMT1	ZBTB18	SRCAP	TRIM8	SMG8	DPM1	KDM4B	CDC42	FBN1	PSMD12	MED13	DOCK3	CDH2	PYCR2	MED27	KCNK4	CLCN3	GNE	PUF60	MAB21L1	MAN1B1	WDR19	ZNF148	EBF3	PTPRF	RPL10	PACS1	ACTL6B	CERT1	TNRC6B	ATG7	TRPS1	EMC10	CRKL	CCBE1	DPYSL5	FOXG1	ZNF699	CTNNB1	TANC2	ADNP	AP3D1	SLC25A24	PTPN23	TRIP12	SMC1A	DIS3L2	TBL1XR1	DDX6	NOTCH3	COL3A1	RHOBTB2	BCAS3	WDR35	MADD	MAPK8IP3	HNRNPU	KCNMA1	ATP6V1A	PALS1	COG1	CSNK2B	NUP107	MYOD1	SMS	SPTBN1	FBXW11	WDFY3	ACTL6A	MMACHC	BPTF	KIF15	PIK3CA	TCF20	TASP1	SETD5	DYRK1A	TBX1	MED12	TMEM94	SYT1	MAPK1	STAG2	MTOR	PIGN	BCORL1	RLIM	HOXB1	ACER3	SLC45A1	CCDC32	MYT1L	HS2ST1	ANKRD17	ZPR1	EXOC2	FAR1	SMC3	ADSL	PKDCC	AFF3	EXOSC1	GAD1	PLAA	IGF1R	SPECC1L	SATB1	NSUN2	TRRAP	SMARCA2	USP9X	SLC12A2	PAX3	ATP6V0A2	HTT	QRICH1	UBR7	KMT2E	SUMF1	STEEP1	UBE3B	UGDH	PRDX1	KDM5C	PIGB	SMPD4	IRX5	GRIA4	CASK	HPDL	SON	MEIS2	AP3B1	WDR37	LMBRD2	CDK10	SATB2	MSL3	SIN3A	TCF7L2	KIF7	PUS7	CD96	FLI1	BCR	SEC23A	SVBP	SYNCRIP	SPOP	AASS	MAF	TUBGCP2	PPP1CB	ATP6V1E1	AGO2	PPP2R3C	ZNF292	ALG9	RNF2	WASF1	MID1	PIGU	TRAPPC9	NTNG1	ZC4H2	CLIC2	ANKRD11	FLNA	CNOT3	HUWE1	IFIH1	PIGQ	LEMD2	COG7	THOC6	KAT8	SETD1A	ORC4	TRAPPC4	JARID2	ADAMTSL2	POLR3GL
HP_BIRD_LIKE_FACIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIRD_LIKE_FACIES	WNT10A	MPLKIP	GTF2E2	ERCC2	GTF2H5	LIG4	TARS1	LMNA	NHEJ1	XRCC4	RAD50	ZMPSTE24	ERCC3	RNF113A
HP_SQUARE_FACE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SQUARE_FACE	PUF60	SETD1B	CHD7	WAC	CREBBP	EP300	LIFR	ADAMTSL1	IFT57	SEMA3E	KDM5B
HP_SHORT_PHILTRUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_PHILTRUM	PIGG	SMAD4	GAS1	COMT	UNC80	PRKACB	RALA	KDM4B	DLK1	BCAS3	KCNJ6	DOCK7	AP4B1	CKAP2L	FREM1	CDC42	MCTP2	KIDINS220	FIG4	APC	CTCF	LARP7	EXT2	CTBP1	ROR2	MAPK8IP3	FOXL2	CDH2	KCNK4	TWIST2	PIGW	NELFA	SATB2	VAC14	TBX1	MAN1B1	ALG12	LETM1	VPS51	NODAL	TWIST1	NSD2	SLC35A1	BRPF1	PIGL	ARVCF	TNPO2	NEXMIF	CDH11	KAT6A	UFD1	EDEM3	HUWE1	PHF21A	ADAMTSL1	AP1S2	ARID2	ERLIN2	TMEM70	BCL11B	NONO	MED25	SMC1A	SLC35A2	FZD2	NALCN	TFAP2B	COL3A1	HIRA	MEG3	PPP1R15B	CPLX1	IREB2	ZEB2	PIGV	TBC1D20	PTCH1	AP4S1	CLCN3	SMS	SPTBN1	AP4E1	CHAMP1	TCF4	DHX37	AP4M1	KDF1	SIX3	PITX2	MED12	TXNL4A	HDAC6	CDON	SETBP1	MAP3K7	PDE4D	RTL1	AUTS2	SUFU	POGZ	RAB18	SMARCE1	ARID1B	MEF2C	STAG2	NXN	RAB3GAP1	UPF3B	SEC24C	ZDHHC9	ALX4	ITCH	GALNT2	TSPAN7	PSMC3	RAB3GAP2	IFT57	DVL1	DISP1	CDK13	PRKACA	KCNK9	ANKRD17	AFF3	SPEN	FGFRL1	FGF8	NSUN2	TRRAP	NFIX	PQBP1	VPS13B	PPP2CA	TAB2	BPTF	FAT4	GATAD2B	TDGF1	ADAMTS3	PGAP3	CNOT3	ZIC2	TALDO1	CREBBP	KIFBP	SMPD4	DVL3	CCDC22	TGIF1	SRCAP	PGAP2	RUNX2	OPHN1	FGFR1	GLI2	RNF2	RAI1	SON	MEIS2	EPB41L1	TCTN3	FOXH1	CUL4B	KIF7	JMJD1C	PHIP	UBE3B	MADD	FLII	MTX2	HNRNPH2	PIGO	DEAF1	WNT5A	DENND5A	SOX11	TAOK1	NKAP	CCBE1	EMC1	PTH1R	MED12L	TRMT10A	NOG	SMARCA2	ZNF292	TBR1	WNT4	LRRC32	TRAPPC9	POLR3A	SHMT2	PSMD12	SHH	DPYSL5	PUS7	ERCC1	PIGY	GRIA3	DLL1	SH3PXD2B	RREB1	IQSEC2	WDR4	GP1BB	TMEM237	MID2	DPF2	LRP4	PARS2
HP_FACIAL_ASYMMETRY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_ASYMMETRY	SMC3	HRAS	FGF9	MAF	FANCM	GNAS	OFD1	ZIC1	ADAT3	NOG	CPLX1	FGFRL1	KDM4B	RAD51	MACF1	KRAS	PKD2	PIK3CA	USP9X	FANCC	BRIP1	EBP	CTBP1	C12orf57	PPP2R5D	YY1	KMT2A	H19	FGFR2	PSMD12	TRIO	FANCF	LRP4	SATB2	ERCC4	PUF60	SET	SLX4	MYH8	FANCD2	EYA1	BMP4	SIX1	ATR	KCNJ2	TWIST1	FGFR3	GDF3	GDF6	EFNB1	MYCN	SEMA3E	IGF2	SON	NTRK2	CHD7	ELMO2	CTNND1	PPP2R1A	ELOVL4	EDN1	SALL4	KAT6A	CRKL	FANCL	NBAS	RAD51C	SLC12A6	FANCE	FLNA	SIN3A	FLI1	SMC1A	BCR	NRAS	NF1	RHOA	CLTCL1	PALB2	MEOX1	UBE2T	MAD2L2	LETM1	GDF5	FANCA	KCNJ5	SMO	EDNRA	MYH3	CHST14	PAX1	FANCG	SEPTIN9	TCF12	SMS	FN1	SP7	DHX37	GNAI3	ANOS1	PTEN	SALL1	PLCB4	POLR1B	CHRNG	COL2A1	CDH11	RFWD3	DACT1	SLC37A4	MAPK1	COL1A1	PIGN	BRCA2	XRCC2	PORCN	PURA	SOX5	KCNQ1OT1	PIEZO2	NSD2	ERF	SIX5	FANCB	BRCA1	AKT1	MAFB	FANCI	CHN1	NFIX
HP_TRIANGULAR_FACE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRIANGULAR_FACE	RERE	RASA2	ANKRD17	ELN	ARX	UNC80	MVK	RAI1	ALDH18A1	CUL7	NALCN	FLCN	SRCAP	RRAS	BRAF	XRCC4	LEMD3	FKBP10	SMARCA2	MCTP2	RIT1	AP1S2	RAF1	ANKRD11	LARP7	SPRTN	BPTF	KRAS	PPP2R5D	DCAF17	PLAG1	SPRED1	NECTIN1	SOX6	PYCR2	PEX19	IGF2	HMGA2	BMP1	TALDO1	TNRC6B	SPRED2	PTPN11	KCNJ1	SPOP	ADGRG6	PEX13	KCNJ2	ZNF148	FANCI	EBF3	PIK3R1	CLCNKB	MYCN	SYNGAP1	OBSL1	SCUBE3	RRAS2	PAX7	KAT6A	ATP6V1A	HUWE1	SEC24D	CDK10	CDC6	PRKG2	ZNF699	CDKN1C	LZTR1	TNNT3	TNNI2	MAFB	SLC25A24	NONO	SMC1A	PAPPA2	FANCC	MED12	MTX2	MED13L	NOTCH2	EMC10	CCDC8	POC1A	BSCL2	MRAS	BUB1B	AGPAT2	CBL	TAOK1	MAP2K1	KCNJ5	ATP6V1E1	PTF1A	PEX14	IGF1R	GBA	MYOD1	FBLN5	MED12L	BUB1	MYH3	SOS1	TRPS1	BSND	SEC31A	POLR3A	ZMYM2	PIEZO2	TRIP13	HERC1	H19	TMEM94	PYCR1	PSMD12	IFITM5	HS6ST2	PLOD2	JAG1	TRMT5	STAG2	LEMD2	NRAS	SOS2	ORC6	TBX2	BUB3	CEP57	COL1A2	SLC45A1	TRIM37	PQBP1	CLCNKA	SERPINH1	COL1A1	FBN1
HP_ABNORMALITY_OF_THE_MAXILLA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MAXILLA	RTL1	ORC1	COL5A1	SMAD4	GPC4	FGD1	DKC1	DCHS1	ALX1	ORC4	CDC6	FAT4	RIPK4	TWIST2	ADAMTS10	AKT1	FLNB	EFTUD2	NFIX	PQBP1	HBB	VPS13B	USB1	GMNN	PITX2	PAX3	RAB3GAP2	ARSL	CHSY1	CTSK	UBE3A	ERF	DLX4	FGFR2	POLR1C	PRKAR1A	BGN	KDM5C	MMP2	KIFBP	ZBTB20	UBB	SCARF2	TP63	KCNJ2	SRCAP	TWIST1	COL2A1	FGFR3	RUNX2	MEG3	RAB23	GLI2	MAFB	PIK3CA	CTC1	SON	BMP2	BMP4	DLG1	GORAB	POLR1B	CDH11	TERC	ZBTB11	ALX3	LBR	COLEC11	SLC12A6	HRAS	TCOF1	WDR26	COL11A1	SEC23A	EDA	POLR1A	CDT1	PTEN	NOP10	NPM1	TUBGCP2	POLR1D	NECTIN1	EFEMP2	KCNJ5	ARHGAP29	FBN1	SKI	EDNRA	FGF3	ABL1	IL11RA	SMOC1	RTEL1	GJA1	MED12	NRAS	AP2M1	UPF3B	EP300	SOX5	PDE4D	DLK1	SF3B4	TINF2	WRAP53	IRF6	B3GLCT	PDGFRB	IFIH1	MSX1	TERT	ORC6	ZDHHC9	PTCH1	CREBBP	GRHL3	STAMBP	RPS6KA3	LTBP3	NHP2	FOXC1	TMCO1	FGFR1	SNRPN	CDC45	PARN	SLC25A24	PRKACA	PYCR2	CDH1
HP_FACIAL_HEMANGIOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_HEMANGIOMA	GNAQ	CD96	WASHC5	SETBP1	DHCR7	CCDC22	ESCO2	POR	RASA1	EPHB4	RECQL4	MGAT2	GLI3	SLC26A2	GNA14	STAC3	PPP1CB	ASXL1	OFD1
HP_SHORT_CHIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_CHIN	BMPR1A	PAPPA2	EDA	MTOR	DST	XRCC4	NSUN2	RNF13	ALG13	DDR2	SHANK3	SOX11	AP1S2	PTF1A	ERCC8	COA6	MYOD1	COX7B	PIGS	CYP26C1	ZNF292	ASXL3	MBD5	ZBTB24	ABL1	VAC14	NFIA	MAN1B1	NDUFS4	MED12	ERCC6	ZMPSTE24	IGF2	PTEN	EBF3	ARID1B	MEF2C	H19	PPP1R21	SCUBE3	PRKDC	ITCH	ERCC4	FLNA	RECQL4	LMNA	CDK10	TRIO	FIG4	ERCC1	PARS2
HP_PROMINENT_SUPRAORBITAL_RIDGES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_SUPRAORBITAL_RIDGES	CAVIN1	HDAC8	IDS	SEC23A	EDA	FOS	CHD8	ERCC4	RBMX	KCNJ8	FHL1	ABCC9	FREM1	PHF8	AGPAT2	SHANK3	MAP2K2	AP1G1	PHF6	PIK3R1	SP7	PDGFRB	CAV1	PITX2	FLNA	PRR12	MAP3K7	BSCL2	FGFR1	UBE2A	ZSWIM6	PTH1R	TAF1	GRIA3	OPHN1	PAK3	FBXO31	LAS1L	ARX	PPARG	PSMC3	SUZ12	RPS6KA3
HP_BROAD_FOREHEAD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_FOREHEAD	ELN	MLXIPL	PRKACB	CITED2	ALDH18A1	EED	FLCN	CDKL5	SKIV2L	NRAS	GPC3	RBM8A	CKAP2L	AIP	NKX2-5	GTF2I	NKX2-6	EZH2	NCF1	LIMK1	YY1	CDH2	EIF4H	PAK1	GATA6	RUNX2	ANTXR1	NIPA1	GPC4	LRP2	ODC1	TUBG1	TAFAZZIN	GATA4	KANSL1	EBF3	FGF10	RPL10	MESP2	BRPF1	CASK	KDR	SUZ12	ACTG2	MADD	COLEC11	CCBE1	IDH1	PTEN	CHST3	FGFR2	SLC25A24	WAC	TBCK	B4GALT7	FUT8	JAG1	NOTCH2	MKS1	SHOC2	BMP2	BCL7B	TET3	PPM1D	SPTBN1	LFNG	PSPH	ABL1	TFAP2B	TBC1D7	PIK3CA	NF1	FLNA	TTC37	SETBP1	FGFR3	NARS1	MEF2C	PEX3	OBSL1	PTDSS1	METTL27	TBL2	TBX1	PIGN	FLT4	CAMTA1	HBA1	FBN1	FGD1	CUL7	RTL1	TMEM270	TENT5A	PPP2CA	MAN2B1	TAB2	RECQL4	RFC2	FAT4	GATAD2B	SIM1	B3GAT3	ADAMTS3	BMP1	STEEP1	RIPPLY2	RNF135	FKBP6	ZBTB20	STX1A	NIPA2	CCDC22	KCNJ2	HBA2	BAZ1B	LRP5	ZFPM2	RAI1	DNMT3A	GATA5	BUD23	POLE	DNAJC30	KRAS	HRAS	ACTL6B	GPR101	KIF7	DLL3	GTF2IRD2	GDF1	TCF12	IGBP1	FLII	PCGF2	MEG3	MED13L	EMC10	SH2B1	VPS37D	DEAF1	UNC80	SLC6A8	DLK1	KCNJ5	CCNQ	CHST14	ZIC2	FBLN5	HES7	CCDC8	MBD5	PIGU	TWIST1	POLR3A	NFIA	GJA5	CDH11	PYCR1	RLIM	NSD1	THOC2	ZIC1	IFIH1	SH3PXD2B	WBP11	TCTN2	THOC6	IQSEC2	CLIP2	WASHC5	GTF2IRD1	AMMECR1
HP_HYPOMIMIC_FACE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOMIMIC_FACE	TXNL4A	CC2D1A	PLAA	FBXO7	SLC25A4	SLC39A14	JAM2	SNCA	TWNK	SLC30A10	POLG2	TECPR2	ATP6AP2	GBA	PLA2G6	GIGYF2	SPR	DNAJC6	RRM2B	ATP13A2	KCNK9	LRRK2	ATP1A3	FTL	POLG	SLC18A2	EIF4G1	VPS35	DNAJC13	PODXL	SYNJ1	SLC6A3
HP_SLOPING_FOREHEAD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLOPING_FOREHEAD	CIT	FKTN	RTTN	TBCK	NEUROD2	RAD51	TTI2	CDK5RAP2	CCDC88A	XRCC4	ASPM	TMEM216	CNOT1	FANCC	SCN2A	TSEN2	C2CD3	TCTN2	RUNX2	FANCF	EXOSC5	KATNB1	ERCC4	KAT6B	CEP63	FANCD2	CEP135	COASY	PAH	RBM10	CENPE	CTSD	B9D1	CSPP1	UGP2	CDKL5	NCAPD2	TMEM237	CEP152	KNL1	FKRP	STIL	KIF14	CDK6	RNU4ATAC	FANCL	GNAO1	SC5D	PLK4	PHGDH	TUBGCP4	CEP290	METTL5	PALB2	TSEN34	ZNF335	PIGQ	BUB1B	VIPAS39	MAD2L2	PHF8	FANCA	WDR73	TSEN15	NUP107	FANCG	SEPSECS	ERCC6	NBN	COPB2	RPGRIP1L	ARX	PSAT1	GPKOW	NDE1	KCNA1	TRAPPC14	WDR62	NSUN2	RPGRIP1	TSEN54	STAG2	MKS1	BUB3	POMT2	ACER3	STAMBP	CEP57	FANCB	LTBP4	FANCI	TMEM231	ASNS	EXOC2	QARS1	TUBGCP6	FANCM	B9D2	TRIM8	DYNC1I2	ADAT3	VPS33B	NHEJ1	CENPJ	BRIP1	VARS1	POMT1	OCLN	MCPH1	NCAPH	LIG4	CPT2	SLX4	COG4	SMPD4	RRP7A	KIF7	ATR	TCTN3	EMG1	SIK1	EIF2S3	MFSD2A	TXNDC15	RAD51C	FANCE	TCTN1	GRM7	ABCC9	TAF13	PNKP	DMXL2	MGP	SLC25A19	PYCR2	CASK	SCN1B	UBE2T	TUBGCP2	PRUNE1	KIF11	GLI3	SASS6	ZIC2	TMEM107	OSGEP	BUB1	ASXL3	RELN	TMEM67	TRIP13	PHC1	SETBP1	CC2D2A	RFWD3	ANKLE2	PAK3	BRCA2	XRCC2	PIGP	PCNT	DDX11	KIFBP	NCAPD3	SLC25A22	BRCA1	NFIX	LARGE1	PARS2
HP_NARROW_FOREHEAD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_FOREHEAD	KCNK9	SPEN	KAT6A	DCHS1	CAMK2G	RTL1	MLXIPL	KDM4B	ASPM	ADAM22	PURA	TBCK	NDN	BRAF	CCDC88A	SNRPN	DOCK7	AP4B1	CDC42	ASXL1	CCDC47	MAP2K2	USP9X	TBCD	CTCF	GPT2	LMNB1	RARS2	RYR1	PUM1	SOX6	PYCR2	KCNK4	SLC25A46	GNPTAB	RBBP8	NUP188	AMER1	SIM1	CTU2	KATNB1	PUF60	IER3IP1	BICRA	GTPBP2	PIGN	TBC1D24	PIGB	ELN	SMPD4	PIGY	UGP2	ATP6AP2	LZTR1	GPAA1	SON	RNF13	MEIS2	TNPO2	HS2ST1	NEXMIF	PPP2R5D	MAGEL2	FRMD4A	LIG4	MYO18B	NBAS	SLC12A6	SC5D	RAB3GAP1	PIGT	NUP133	SPATA5L1	LGI4	CDKL5	SLC12A2	ZNHIT3	SMC1A	MADD	MEG3	NAA10	NF1	FUT8	MED13L	LAGE3	SPOP	PPP1R15B	SLC16A2	SHOC2	HERC2	WDR35	TUBGCP2	PPP1CB	BMP2	DLK1	SMG9	PPP2R3C	NUP107	AP4S1	ZIC2	MYOD1	TCF4	TRMT10A	TRAPPC9	SPTBN1	PWRN1	OSGEP	AP4E1	PSPH	ATN1	DDX6	AP4M1	RELN	GON7	MKRN3	SNORD115-1	PIGU	SETBP1	IFT140	DYRK1A	CDH11	SMARCD1	ATRX	CARS1	GNB2	VPS53	PPP1R21	COG7	TRAPPC4	NPAP1	MN1	DHCR7	MAPK1	SNORD116-1	AFF4	TMCO1	PWAR1	FAT4	AMPD2	NDE1	SERPINH1	QARS1
HP_LONG_PHILTRUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_PHILTRUM	NTNG2	COMT	ZMIZ1	TBCE	TRMT1	COL2A1	BRAT1	CLCN4	SMG8	PDHA1	RAC3	ABCC9	CDC42	FBN1	GTF2I	BCOR	ACTB	EZH2	NCF1	HSPG2	LMNB1	ROR2	DOCK3	MAPK8IP3	FBXO11	TRIP12	CDH2	PYCR2	MED27	EIF4H	TOR1A	TRIO	AP2M1	SATB2	MAB21L1	PAH	FZD2	DSE	PRMT7	SLC2A10	SRCAP	CHRNG	RPL10	BRCC3	BRPF1	PTEN	CASK	OBSL1	ACTL6B	EIF2S3	EMC10	MYO18B	SLC26A2	PCLO	MARS2	DPYSL5	DVL3	SC5D	SNAI2	SMC3	TNNI2	CHST3	MID1	SLC25A24	PTPN23	TBCK	SNX14	EED	ACTA1	KCNMA1	ATP6V1A	NALCN	SHANK3	ARHGEF6	BCL7B	MYH3	CLCN3	MYOD1	SLC2A1	IQSEC2	KARS1	PUS1	CPLX1	FBXW11	WDFY3	BPTF	SMOC1	DYNC2I1	TCF20	NIPBL	TASP1	IFT81	MED12	PDE4D	ZNF711	PRDM16	ARID1B	MTOR	BCORL1	NXN	RLIM	METTL27	TRAPPC4	ALDH6A1	DHCR7	BRF1	TRIP11	PPP1R12A	PIGN	CCDC32	DVL1	SNRPB	USP9X	ALG9	NEXMIF	MYT1L	SMC1A	CAMTA1	ATP7A	ATP6V1B2	FAR1	PKDCC	SPEN	FGD1	CAMK2G	KAT6B	RAD21	PLAA	RERE	FGFR2	SMARCA2	ELN	ALG13	TBX1	SLC6A1	SLC12A2	KCNH1	RFC2	COX7B	UBR7	KMT2E	KIT	LTBP3	DLG3	TENM3	BMP1	BUB1B	RIPPLY2	FKBP6	PIGB	BRD4	MYMK	IRX5	GRIA4	MAPRE2	HPDL	GLIS3	SLC6A17	XYLT2	CSGALNACT1	B4GALT1	AP3B1	FRMPD4	BUD23	TBC1D20	RAB39B	PMM2	NBAS	CDK10	DNAJC30	HRAS	TCF7L2	RNU4ATAC	KIF7	MRPS28	DLL3	PHIP	PUS7	PEX26	CD96	CLCF1	FLI1	BCL11B	COL11A1	MADD	GNE	SYNCRIP	COL11A2	AGTR2	PLOD3	VPS37D	POC1A	MAF	WNT5A	KIF11	CRLF1	PPP1CB	IARS2	AGO2	IGF1R	FGFR1	ARX	CCDC8	PIGT	SCN1A	RNF2	TRPS1	NTNG1	TUBB	ANKRD11	SPTBN1	B3GLCT	SETD5	CNOT3	DLK1	ATP6V0A2	USP27X	TAF1	PIGQ	DYNC2H1	PRKDC	KAT8	SETD1A	ZNF81	KMT2A	OTUD6B	GP1BB	KIAA0753	PAK3	MECP2	AFF4	KCNJ11	EXOSC2	WDR35	CANT1	APC	MLXIPL	HDAC8	RAI1	KDM4B	CLTC	TRIM8	CNOT1	TBC1D24	CTCF	ZNF41	PSMD12	MED13	XYLT1	CHD2	GDI1	SPECC1L	LIMK1	FTSJ1	GLB1	ACTG1	NFIB	GNPTAB	ANTXR1	PUF60	HSD17B4	PRKCZ	NEB	UGP2	UBE4B	MESP2	BMP2	ARVCF	RIN2	TNPO2	TNRC6B	SUZ12	SLC9A7	NOTCH2	UFD1	HUWE1	EXOC7	IDH1	CDC6	CNKSR2	TAF6	ZNF699	CTNNB1	TANC2	BRAF	ADNP	DDX6	NOTCH3	METTL5	HIRA	BCAS3	KCNAB2	PPP1R15B	INPPL1	DMD	CBL	PALS1	COG1	ATP6V1E1	TET3	B3GALT6	SYNGAP1	OCRL	LFNG	ERCC6	ACSL4	CLCN6	ACTL6A	GPC6	MMP23B	SYP	PTH1R	CUL7	NRAS	EXT1	PDPN	TSPAN7	ABCC8	STAG2	MUSK	SEC24C	TBL2	MAPK1	AP1G1	LTBP4	RIC1	HS2ST1	ANKRD17	EXOC2	ADSL	RTL1	EXOSC1	POR	IL1RAPL1	GAD1	CCNK	AVP	SATB1	MAP2K1	TMEM270	NEK9	PPP2R5D	DYNC2I2	HTT	OCLN	B3GAT3	CREBBP	RNF135	EXT2	MID2	STX1A	ALG8	MPC1	BAZ1B	MEG3	KLHL41	MEIS2	CHST14	KRAS	CASZ1	MIR140	MAP3K7	LMBRD2	TMEM70	NLRP1	STEEP1	CRTAP	SIN3A	PIEZO2	JMJD1C	ARHGEF2	GTF2IRD2	SEC23A	TPM3	SVBP	YARS2	MTX2	NF1	KCNJ8	PPP2R3C	FGF3	LUZP1	PTCH1	HES7	TRMT10A	C12orf57	UPF3B	ATN1	INTS1	WASF1	MAP2K2	RPS6KA3	MOCS2	GJA1	ZC4H2	ALG11	CDH11	SHMT2	TTC37	PTCHD1	NSD1	GABRD	SKI	IFT80	PPP1R21	RREB1	CLIP2	MOCS1	EXTL3	GTF2IRD1	METTL23	JARID2	HCFC1	ADAMTSL2
HP_HIGH_FOREHEAD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_FOREHEAD	NTNG2	ZMIZ1	TBCE	SZT2	TRMT1	RRAS	FRMPD4	RBM8A	RIT1	GTF2I	PEX3	NCF1	DOCK3	SCN3A	ERF	FBXO11	MED27	EIF4H	NTRK2	NELFA	TRIO	SATB2	ATAD3A	LETM1	ACTB	TWIST1	KANSL1	EBF3	ACTL6B	PEX14	STRADA	EMC10	MADD	PAFAH1B1	SHPK	DPYSL5	YWHAG	SMAD3	DVL3	THOC6	ARV1	PTPN23	TRIP12	GMNN	GLI3	CPLX1	WDR35	MAPK8IP3	MRAS	HNRNPU	BUB1B	KCNMA1	ATP1A2	BCL7B	CACNA1A	KCNB1	PEX6	MYOD1	ATP1A3	SPTBN1	KNSTRN	PEX1	FBXW11	WDFY3	SYNJ1	TCF20	MMACHC	BPTF	MED12	PEX12	UBA5	MED25	FGFR2	SYT1	MTOR	BCORL1	RLIM	ZDHHC9	METTL27	ALDH6A1	IFT52	GALNT2	GABRB2	NSD2	CEP57	GRIN2D	CCDC32	TBL1XR1	PEX11B	MYT1L	PEX16	FIG4	HBA1	ATP7A	ZIC1	ADAT3	CAMK2G	PIK3R2	POLR2A	ELN	SLC1A2	SLC12A2	ATP6V1B2	EEF1A2	RFC2	PEX13	COX7B	KRAS	KCNA2	AARS1	STIM1	UBR7	KMT2E	PRDX1	PEX26	FKBP6	SPRED2	CDH1	GRIA4	RNF113A	BMP4	HPDL	PEX5	LRP5	MEF2C	ETFB	EPB41L1	CTBP1	BUD23	ALG11	WDR37	DNAJC30	ATP6AP1	TCF7L2	PHIP	PUS7	FGFR3	CDKL5	FLI1	IGBP1	CYFIP2	SYNCRIP	CCND2	VPS37D	POC1A	MAF	SLC13A5	PPP1CB	DNM1	GABRA5	AGO2	PIK3CD	ZIC2	ARX	PIGT	BUB1	RNF2	SLC1A3	PIGU	NTNG1	CNKSR2	PARS2	TRIP13	ANKRD11	LMX1B	SKI	NECAP1	CLTC	SATB1	CNOT3	YWHAE	PURA	NXN	KAT8	SETD1A	ETFA	CENPJ	AP3B2	NFIX	EXOSC2	SERPINH1	PTPN11	APC	PIGG	MLXIPL	SUPT16H	AKT3	SOX9	NRAS	ETFDH	XRCC4	KDM4B	AP1S2	CTCF	RAF1	PSMD12	MED13	LIMK1	NFIB	CLCN3	GNPTAB	ANTXR1	VAC14	HSD17B4	NUS1	GABRA2	SCN8A	SCUBE3	TNRC6B	CDH11	CUL4B	HUWE1	CDK19	GHR	TANC2	ARID2	BRAF	BPNT2	TP63	DIS3L2	DDX6	CRIPT	BCAS3	GNPAT	PALS1	FBN1	TET3	HCN1	PEX19	SOS1	ACTL6A	SCN1A	SETD5	TBX1	CACNA1B	GNB2	PEX2	SOS2	UPF3B	BUB3	TBL2	MAPK1	NPHP3	HS2ST1	ANKRD17	RASA2	WWOX	EXOSC1	SRCAP	SYNGAP1	FGFRL1	SIX2	AP1S1	PIK3CA	MAP2K1	MAP2K2	CELF2	TMEM270	PEX10	KMT2A	SOX6	HTT	CPT2	PPP3CA	SETD2	EXT2	STX1A	ATP6V1A	HBA2	TRPV4	BAZ1B	TRAK1	GABRG2	NEU1	CTNND1	RRAS2	LBR	UBE2A	LMBRD2	HIC1	GATA4	SIN3A	LZTR1	GTF2IRD2	SVBP	MTX2	FGFR1	UNC80	FGF12	TAOK1	MED12L	GJA1	ATN1	WASF1	FGF13	ORAI1	SETBP1	CARS1	THOC2	DHDDS	SH3PXD2B	PPP1R21	MDH1	ODC1	CLIP2	CBL	WDR4	TMEM237	TRAPPC4	WASHC5	GTF2IRD1	DVL1	ZC4H2	JARID2	DALRD3
HP_WIDOW_S_PEAK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDOW_S_PEAK	RERE	SLC35C1	FGD1	LRP2	GDF11	ALX1	ATP6V1B2	SPECC1L	SATB1	ALX3	SYT1	EFNB1	TWIST1	MID1
HP_SMALL_FOREHEAD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_FOREHEAD	KDM5C	RELN	TFAP2A	NDE1	DMXL2	SNX14	PIGN	IFT57	KATNB1
HP_ABNORMALITY_OF_THE_OUTER_EAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_OUTER_EAR	KAT6A	AGRN	ZEB2	TBCE	NALCN	RTTN	RB1	HYLS1	XYLT1	RRAS	GPC3	CDC42	HSPG2	CHSY1	CEP41	RAB11B	CDH2	SOS1	MED27	TCF3	FAM149B1	PAK1	ERCC3	FANCF	KATNB1	ERCC4	FANCD2	MAB21L1	PAH	RBM10	GTPBP2	ODC1	TUBG1	UMPS	WDR19	SRCAP	ALOXE3	BBS5	CHRNG	FGF10	TBCD	MYCN	CEP290	EMC10	TOGARAM1	LMNA	MITF	KDSR	EHMT1	BBS7	TRIP12	DHODH	LRRC8A	GMNN	NAA10	IGHM	COLEC10	EFEMP2	ATP6V1A	MAD2L2	MED13L	FANCA	SETBP1	KMT2C	CLCN3	AP4E1	DHX37	FBXW11	DDX6	RAB3GAP1	TCF20	FAM20C	BRAF	RPL35A	RAI1	RPS26	ITGB4	WNT4	NIPBL	CD96	FLNA	PSAT1	PEX12	IFT81	TMEM94	BRF1	SCYL2	TARS1	SMS	RPS15A	IGF2	CSPP1	SEMA5A	ALX3	RLIM	GATA1	ZDHHC9	GALNT2	RAB3GAP2	STAMBP	DYRK1A	MYT1L	FIG4	PKHD1	PBX1	PLOD1	SPEN	RPL15	ADAT3	RSPO2	LONP1	KAT6B	RAD21	PLAA	EEF1A2	COL13A1	INSR	FGFR2	TBX1	EGFR	KCNH1	VARS1	KRAS	FGF20	OFD1	ZMPSTE24	QRICH1	FRAS1	TENM3	ADAMTS3	MGP	PEX26	PAM16	CEP104	PIGL	HPDL	SLC26A2	RUSC2	DCAF17	PEX5	DCPS	GLIS3	HELLS	PEX16	ERCC6	POLA1	BUD23	WDR37	PMM2	FANCE	ALG6	DNAJC30	TFAP2A	CHRND	PUS7	TLK2	LGI4	FLI1	SIAH1	TWIST2	SYNCRIP	AASS	DST	SLC16A2	TUBGCP2	CRLF1	RARB	TAPT1	AGO2	CCNQ	PPP1CB	RPS19	FGFR1	EMC1	TMEM107	MASP1	OSGEP	PIGT	ERCC8	GNAI3	FRMD4A	ACAN	POMT2	MKS1	TMEM260	TRIP13	IQSEC2	EP300	DVL3	SPTBN1	KDM3B	ATP6AP2	MAPRE2	PIGQ	NDUFB11	HNRNPK	SOX5	KAT8	ETFA	WNT7A	AFF4	ATP6V1B2	GNB1	BRCA1	MYOD1	PYCR2	PIGK	KDM6B	EFL1	SUPT16H	HDAC8	ALDH18A1	RALA	PURA	ATIC	CPE	KDM4B	AIP	SMOC1	SLC6A17	EBP	CTBP1	CEP152	TCTN2	MEGF8	GLB1	COL11A2	CC2D2A	PSMD12	ZMIZ1	CACNA1G	TMEM216	ALG12	TBC1D24	NEB	CENPF	RAPSN	AMER1	TMEM237	ZNF148	PTPRF	LZTR1	SEMA3E	SOD1	RPL5	TNRC6B	ACTG2	LARGE1	FGFR3	UFD1	SALL4	FOXP2	CCBE1	BRWD3	CDKN1C	CENPE	PRRX1	DACT1	TMEM70	FGF3	SYT2	GPX4	RALGAPA1	DIS3L2	FKTN	KCNAB2	PPP1R15B	FHL1	IREB2	SF3B4	COG1	EDNRA	WASHC5	OCRL	PEX19	DSE	ACTL6A	ITGA8	UBR7	VPS37A	CPLANE1	SETD5	B9D1	PLEC	MAP3K7	SHANK3	KLF13	GSC	NSUN2	COL3A1	MAPK1	MCM5	NRAS	MUSK	PAFAH1B1	SNRPB	PQBP1	GRIA4	CD79B	HS2ST1	RTL1	AFF3	PEX1	CPOX	CPLX1	SIX2	CTH	EFTUD2	PEX11B	SNAP29	VAMP1	ANKRD11	BPTF	LZTFL1	KATNIP	PGAP3	CHST3	UGDH	CNOT3	BIN1	KIFBP	TUBB	SATB2	NIPA2	KIAA1109	KIF7	ALG13	TAF1	BAZ1B	MEG3	TCTN3	POMGNT1	NEU1	ACTA1	ERMARD	PLK4	BBS10	LBR	TXNDC15	RMRP	SIN3A	GPR101	ATP6V0A2	CLCF1	CTCF	PDE6D	UBE2T	NBN	PRUNE1	BBIP1	GLUL	TAOK1	MRPS22	CHST14	PTCH1	FBLN5	WDPCP	ARL3	C12orf57	ZNF292	ASXL3	FBN1	ATN1	INTS1	PTEN	JUP	TTC8	ADSL	ZMYM2	RPL31	COL2A1	TRAIP	FOXG1	MED12	NSD1	RFWD3	PLCB4	B3GLCT	WDR73	TSR2	TOE1	DDX11	CLIP2	ADAM17	GTF2IRD1	MID2	TMEM67	OTUD6B	CEP55	TRIO	GPC4	RNU4ATAC	ADAMTSL2	CWC27	ALX4	CDC6	KANSL1	ITGB6	COL6A1	FRMPD4	PREPL	EVC	GTF2I	ZNHIT3	DOCK6	AHDC1	HCCS	INTU	MPLKIP	IFT27	SLC25A1	LETM1	DLK1	CANT1	MAN1B1	TAFAZZIN	EYA1	FIBP	FBN2	YY1	NHS	FTSJ1	BRPF1	OBSL1	LRP2	MYO18B	RNASEH2C	NEK1	SLC25A24	SLC12A2	SMC1A	RECQL4	SLC1A4	WDR35	MAPK8IP3	MRAS	BUB1B	LARP7	PTF1A	ARID1A	SLC3A1	NDP	KIAA0586	COL4A1	RPS10	TFAP2B	TASP1	GJA1	NPHP1	ATRX	AUTS2	PIGV	PRDM16	POGZ	CHD7	CEP120	FANCL	RAB18	ARID1B	VPS53	PIGN	DNAJC21	HOXB1	SLC2A1	IGLL1	NSD2	GLE1	HOXA2	COL11A1	CCDC32	FAT4	TBL1XR1	CAMTA1	HBA1	FGD1	ASXL1	CAMK2G	RERE	SPEG	LSS	KYNU	TRRAP	RYR1	USP9X	COX7B	ERBB3	PIEZO1	SMARCD2	LIG4	SIM1	STEEP1	PRR12	KIAA0753	DOK7	ELN	HMGA2	BMP4	KCNJ1	ATR	KCNJ2	PGAP2	STAC3	PIK3R1	NTNG2	FOXP1	SDR9C7	ETFB	ABHD5	AP3B1	ZBTB20	RAD51C	CDK10	POMK	NR2F1	TCOF1	PCNT	MRPS28	DLL3	BMPR1A	RPS24	MYSM1	CDT1	SPOP	PLOD3	ECE1	MAF	EDN1	SALL1	PIK3CD	WNT9B	NUP88	CYP4F22	ARX	SEPTIN9	HHAT	SMARCA2	CFAP418	TRPS1	ZNF462	ARL13B	RDH11	PIEZO2	SKI	PYCR1	SATB1	CHRNA1	BRCA2	TBX2	PRKDC	NXN	CEP57	AEBP1	FLNB	NOTCH3	CIT	MLXIPL	GDF11	ROR2	ZBTB18	ALG8	CNOT1	MCTP2	CD79A	IFT172	APC	ABCC6	PRPS1	KCTD1	CAMKMT	LAGE3	PSMB8	TMEM231	VAC14	PUF60	BBS9	KMT2D	NF1	UBE4B	ARVCF	ALKBH8	EVC2	KIF14	SUZ12	SNAP25	CREBBP	HOXD13	PHOX2B	NOTCH2	HUWE1	IDH1	SLC12A6	MPDZ	AP1S2	TANC2	TP63	AP3D1	POMT1	RNASEH2B	FZD2	BCAS3	LMNB1	FAR1	POR	SHOC2	TBX15	BSCL2	RPS20	BMP2	ALOX12B	PAX1	RAC1	DHPS	TBC1D23	GPC6	MMP23B	NIN	PIK3CA	NSDHL	GTF2H5	MGAT2	HS6ST2	RPGRIP1	MEF2C	LAS1L	UPF3B	ACTG1	RPL26	ACER3	ZIC3	CHN1	TRAF7	SAMHD1	ADNP	MVK	B3GALT6	ALX1	FGFRL1	CUL7	BBS12	ANK1	CCNK	SPECC1L	FBXL4	DPYD	STAG1	CCDC47	BRIP1	PUM1	PPP2R5D	AIFM1	PEX10	INPP5E	SOX6	ATRIP	SSR4	CBY1	CPT2	NUP133	STX1A	PTPN11	SCARF2	GLI3	RAB23	CLCNKB	SYNGAP1	RPL11	MEIS2	MTHFR	SLC18A3	SLC9A6	DHCR24	MINPP1	JMJD1C	BCR	GTF2IRD2	CCDC8	BLM	PIGO	GJB4	NKAP	LUZP1	HES7	MRPS16	TRMT10A	SETD1A	B4GAT1	MAP2K2	B9D2	HOXA13	EZH2	PIGA	SOX4	ZNF711	GABRD	PPP1R21	WNT3	DNMT3B	ORC4	SMCHD1	ATPAF2	TREX1	NFIX	ACOX1	DPF2	JARID2	UNC80	MECP2	MYO9A	EED	B3GALNT2	SMG8	DOCK7	AGA	FREM1	RIT1	FANCC	PEX3	COL6A2	EIF4H	PIGW	GREB1L	CTU2	TTC26	LIFR	CTSD	WDR4	TWIST1	HMX1	OTX2	EBF3	RSPRY1	RPL10	BRCC3	PACS1	CASK	BICD2	CEP19	ESCO2	CRKL	PCLO	CILK1	MARS2	SLC6A9	ERCC2	IFIH1	SMC3	TBX4	ERLIN2	PTPN23	PNPLA6	MBTPS2	B4GALT7	FREM2	CRPPA	POU3F3	POLR1D	ALG3	PEX6	RPL27	FANCB	KNSTRN	HRAS	DSP	KDM6A	CHAMP1	WDFY3	COL6A3	ALMS1	MMACHC	PDE4D	HDAC6	MRPL12	JAG1	BCORL1	METTL27	DHCR7	BCOR	PPP1R12A	RPS6KA3	TMCO1	DPP6	CENPJ	TRIM32	ADAR	ERF	C2CD3	MAN2B1	PEX13	DHX30	KMT2E	ERCC5	BMP1	UBE3B	RIPPLY2	FKBP6	PIGB	BRD4	SRP54	OTUD5	MKKS	GLI2	KCNK9	TGDS	B4GALT1	ITCH	MSL3	SLC2A10	TCF7L2	PHIP	PEX14	IGBP1	GNE	SOX9	VPS37D	POC1A	KIF11	FDFT1	IGF1R	GBA	ZIC2	PTDSS1	TCF4	PHF6	TFE3	GON7	LIPN	PIGU	NFIA	TMEM138	PGAP1	KLHL40	HYMAI	MESD	AHI1	ORC6	XRCC2	ACTB	RNASEH2A	KCNJ11	PORCN	TNNT3	LRP4	EXOSC2	ORC1	MSX2	PIGG	CLTC	RIPK4	TTI2	ABCA12	ETFDH	ZBTB24	RAF1	AFF2	SPRED1	HSPA9	NUP188	ANTXR1	NIPA1	TBX22	FMR1	RPS28	PRKCZ	VPS51	DCHS1	UGP2	SIX1	RPL35	DLX4	FKRP	MESP2	PHACTR1	TNPO2	NECTIN1	NEXMIF	CUL4B	EDEM3	EXOC7	ADAMTSL1	ARID2	HIRA	PALB2	CHAT	VIPAS39	AGPAT2	CBL	ATP6V1E1	GJB3	FANCG	PIGS	ACBD5	RPGRIP1L	PITX1	HERC1	PDPN	TP53RK	SOS2	SEC24C	CDCA7	PSMC3	CDC45	ANKRD17	TUBGCP6	MBTPS1	GAD1	AHSG	NUP85	MAP2K1	ZNF423	TAB2	FOXF1	KMT2A	OCLN	SLX4	MRPS14	TALDO1	EXT2	PIGY	COLEC11	ASXL2	HBA2	TRPV4	RNF2	SOST	SCAPER	RRAS2	EIF2S3	UBE2A	ENPP1	PRKG2	CCDC22	SVBP	PCGF2	PLVAP	FOXL2	TTN	DENND5A	STRA6	SOX11	SUFU	PEX2	BBS2	ALG9	MBD5	WASF1	RELN	SLC35C1	KCNQ1	TGM1	CTNND2	TTC37	SON	RPS29	EPG5	GRIA3	RREB1	MN1	SH3PXD2B	OGT	SIX5	SMAD4	CHD3	TGFB3	COMT	CLIC2	TRMT1	RAD51	RBM8A	NCF1	GPT2	KCNQ1OT1	DOCK3	DAG1	FBXO11	RPS23	TOR1A	NELFA	POLR1C	RPL18	DZIP1L	SDCCAG8	SET	TPRKB	IFT74	GTF2E2	ACTL6B	DPYSL5	PLAG1	MID1	PHGDH	TUBGCP4	CHD4	KDM5C	WAC	CA2	RHOBTB2	WFS1	KCNMA1	BCL7B	SMG9	MYH3	CHUK	PPM1D	KCNN3	POMGNT2	TOPORS	GPKOW	NDE1	MED25	PPM1B	HMGB3	NARS1	SBDS	IFT52	STAG2	UBA1	MAGEL2	DVL1	AMPD2	CDK13	AKT1	MAP1B	FANCI	COL5A1	TPM2	VPS33B	KLHL41	DDR2	AP1G1	RFC2	MRTFA	PRDX1	BICRA	SPRED2	SMPD4	SLC5A7	IRX5	ADGRG6	XYLT2	VPS13B	PLAGL1	CNTNAP1	TCTN1	MADD	RBMX	WNT5A	KIF1A	ADA2	COG5	BUB1	FN1	BSND	NTNG1	EXOSC9	ERCC1	H19	WBP11	GRIP1	GP1BB	YWHAE	AMMECR1	KAT5	LMOD3	SRY	DONSON	EIF4A3	MED13	TSHZ1	LIMK1	BLNK	CNOT2	KCNK4	RPS17	RPS7	RXYLT1	HSD17B4	PIBF1	CHRNA7	VSX1	LMX1B	USP7	CDH11	PAX7	KDM5B	RPS27	DDB1	NUP107	ZNF699	RET	MEOX1	BCL11B	NIPAL4	POLR1A	METTL5	PALS1	NANS	TET3	TBC1D20	TRAPPC9	LFNG	TUBB3	VANGL2	POLR3A	KIF15	PTH1R	TXNL4A	EXT1	ZNF407	STXBP1	TMEM165	GNB2	ABCC8	SLC37A4	BUB3	TBL2	IL1RAPL1	RBBP8	MAFB	RIC1	ASNS	EXOC2	QARS1	RASA2	FANCM	GNS	TNNI2	GK	DPH1	POLE	LMBRD1	TMEM270	PXDN	DYNC2LI1	BBS4	BBS1	ACP5	HTT	HECW2	B3GAT3	SRD5A3	ADAMTS18	BCL11A	OPHN1	RNF113A	CASZ1	POLR1B	LMBRD2	ITGA3	GATA4	BHLHA9	TPM3	ARL6	ARMC9	WARS2	YME1L1	SLC6A8	SPART	KCNJ5	PPP2R3C	SLC39A8	SPINT2	SULT2B1	TBR1	BMPER	IPO8	ZC4H2	CSNK2A1	SMARCD1	THOC2	DLX5	PAK3	COG7	EIF5A	TRAPPC4	CAPN15	DHX16	CLCNKA	COL7A1
HP_ABNORMAL_LOCATION_OF_EARS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LOCATION_OF_EARS	RERE	ELN	FKTN	UNC80	KAT6A	MYO9A	AGRN	TBCE	EED	NALCN	B3GALNT2	CDKN1C	RTTN	RB1	HYLS1	XYLT1	SMG8	MGAT2	RRAS	FREM1	CDC42	RIT1	HSPG2	LARP7	CHSY1	CEP41	PIEZO2	TMEM67	CDH2	SOS1	EIF4H	FAM149B1	GREB1L	CTU2	KATNB1	TTC26	PRRX1	MAB21L1	LRP2	RBM10	LIFR	GTPBP2	CTSD	B9D1	UMPS	TWIST1	BBS5	HMX1	CHRNG	OTX2	EBF3	RSPRY1	RAPSN	MYCN	RPL10	BRCC3	PACS1	NSDHL	CEP290	CEP19	ESCO2	TOGARAM1	PCLO	CILK1	MARS2	SLC6A9	MITF	FRAS1	IFIH1	SMC3	SEMA3E	CHST3	RAC1	BBS7	PNPLA6	MBTPS2	DHODH	GMNN	NAA10	B4GALT7	CPLX1	FREM2	CRPPA	EFEMP2	ATP6V1A	MED13L	SETBP1	SKI	CLCN3	PEX6	RPL27	FANCB	WNT7A	HRAS	KDM6A	CHAMP1	FGF3	DDX6	TCF20	FAM20C	BRAF	RPL35A	MMACHC	SMOC1	RPS26	WNT4	NIPBL	CD96	FLNA	PSAT1	IFT81	PEX3	TMEM94	BRF1	PDE4D	HDAC6	SCYL2	SMS	RPS15A	MRPL12	CSPP1	SEMA5A	ALX3	MEIS2	ZDHHC9	METTL27	RNU4ATAC	GALNT2	DHCR7	CREBBP	BCOR	RAB3GAP2	PPP1R12A	PIGN	STAMBP	CEP57	TMCO1	PEX11B	FIG4	PKHD1	PBX1	SPEN	RPL15	ADAT3	RSPO2	KAT6B	RAD21	PLAA	EEF1A2	TRIM32	COL13A1	INSR	GLI3	ADAR	ERF	RAB3GAP1	TBX1	C2CD3	KCNH1	PEX13	VARS1	DNMT3B	KRAS	DHX30	FGF20	OFD1	INPP5E	ZMPSTE24	QRICH1	ERCC5	TENM3	ADAMTS3	UBE3B	LRRC8A	RIPPLY2	FKBP6	PAM16	PIGB	CEP104	BRD4	FANCD2	SLC26A2	RUSC2	DCPS	GLIS3	HELLS	OTUD5	MKKS	PEX16	TGDS	B4GALT1	ZBTB18	ITCH	BUD23	WDR37	SATB2	MSL3	ALG6	DNAJC30	TFAP2A	CHRND	TLK2	MEG3	PEX26	FLI1	SIAH1	IGBP1	GNE	SOX9	VPS37D	POC1A	DST	RAI1	CRLF1	EP300	RARB	TAPT1	FDFT1	CCNQ	PPP1CB	IGF1R	RPS19	FGFR1	GBA	TMEM107	MASP1	OSGEP	MKS1	PIGT	MED27	GNAI3	TFE3	GON7	PIGU	FRMD4A	ACAN	POMT2	NFIA	TMEM138	TUBB	TMEM260	TRIP13	KLHL40	DVL3	NF1	MESD	SETD5	PEX12	ATP6AP2	MAPRE2	TAF1	AHI1	ORC6	SOX5	NUP88	ACTB	PEX5	RNASEH2A	KIAA0753	AFF4	PORCN	MYOD1	PYCR2	EXOSC2	TWIST2	KCNJ2	PTPN11	TCTN2	ORC1	PIGG	SUPT16H	ERCC4	HDAC8	ALDH18A1	RALA	ORC4	KDM4B	PURA	ATIC	RIPK4	TTI2	ZBTB24	EBP	CTCF	RAF1	C12orf57	SPRED1	MEGF8	GLB1	FGFR2	COL11A2	CC2D2A	PSMD12	NUP188	ANTXR1	ZMIZ1	CACNA1G	MAN1B1	TMEM216	TBC1D24	RPS28	PRKCZ	NEB	CENPF	AMER1	CPLANE1	UGP2	TMEM237	RPL35	DLX4	LZTR1	FKRP	MESP2	SOD1	PHACTR1	RPL5	ACTG2	LARGE1	FGFR3	UFD1	EDEM3	CCBE1	EXOC7	ARID2	ADNP	TMEM70	SYT2	GPX4	RALGAPA1	DIS3L2	HIRA	LMNA	KCNAB2	CHAT	FHL1	IREB2	VIPAS39	CBL	COG1	ATP6V1E1	EDNRA	WASHC5	FGF10	OCRL	PEX19	FBN1	PIGS	DSE	ITGA8	UBR7	RPGRIP1L	PITX1	HERC1	PDPN	MAP3K7	NSUN2	MCM5	NRAS	SOS2	MUSK	SEC24C	CDCA7	MAPK1	PAFAH1B1	CDC45	TMEM231	RTL1	B9D2	AFF3	MBTPS1	GAD1	POGZ	SIX2	EFTUD2	KIAA0586	MAP2K1	ZNF423	VAMP1	TAB2	FOXF1	KMT2A	OCLN	LZTFL1	KATNIP	MRPS14	CNOT3	TALDO1	KIFBP	MAP2K2	COLEC11	ASXL2	KIAA1109	HBA2	KIF7	TRPV4	ALG13	BAZ1B	TCTN3	POMGNT1	NEU1	ACTA1	NOTCH2	SCAPER	EFL1	RRAS2	ERMARD	MRAS	BBS10	LBR	TXNDC15	RMRP	ARID1B	PRKG2	ATP6V0A2	KAT8	CCDC22	PCGF2	PDE6D	PLVAP	BBIP1	GLUL	STRA6	SOX11	SUFU	TAOK1	MRPS22	BBS2	CHST14	PTCH1	FBLN5	WDPCP	ARL3	ZNF292	ASXL3	ALG9	MBD5	ATN1	INTS1	PTEN	RELN	TTC8	ADSL	GPC4	ZMYM2	RPL31	COL2A1	CTNND2	TTC37	SF3B4	NSD1	SON	PLCB4	RPS29	EPG5	B3GLCT	PYCR1	TSR2	RREB1	CLIP2	MN1	SH3PXD2B	GTF2IRD1	OGT	OTUD6B	CEP55	CWC27	SMAD4	CHD3	COMT	COLEC10	ALX4	CDC6	CEP120	GATA1	SRCAP	RBM8A	PREPL	GTF2I	EZH2	NCF1	GPT2	ROR2	MAPK8IP3	DAG1	FOXL2	FBXO11	RYR1	YY1	DOCK6	RPS23	AHDC1	NELFA	RPL18	DZIP1L	SDCCAG8	INTU	IFT27	IGF2	SLC25A1	LETM1	DLK1	CANT1	KANSL1	IFT74	CHD7	PEX14	EDN1	MYO18B	RNASEH2C	GLE1	PLAG1	MID1	CHD4	SLC25A24	SLC12A2	WAC	SMC1A	RECQL4	SLC1A4	WDR35	BUB1B	ZEB2	WDR73	BCL7B	SMG9	PTF1A	MYH3	SLC3A1	PPM1D	COL4A1	PEX1	RPS10	TFAP2B	MED12	TASP1	POMGNT2	TOPORS	GPKOW	MED25	NPHP1	POR	PPM1B	HMGB3	ATRX	AUTS2	PIGV	PRDM16	NARS1	RAB18	NXN	HOXB1	IFT52	COL11A1	STAG2	MAGEL2	DVL1	SNRPB	TBL1XR1	CDK13	AKT1	MAP1B	CAMTA1	HBA1	ATP6V1B2	GPC3	FGD1	VPS33B	ASXL1	CAMK2G	PEX10	KYNU	TRRAP	KLHL41	DDR2	USP9X	AP1G1	RFC2	COX7B	POMT1	SMARCD2	LIG4	SIM1	PRR12	PRDX1	BICRA	SPRED2	DOK7	SMPD4	SLC5A7	IRX5	HMGA2	BMP4	ADGRG6	ATR	STAC3	XYLT2	NTNG2	AP3B1	CTBP1	CNTNAP1	CDK10	POMK	TCTN1	PCNT	MRPS28	DLL3	FLNB	BMPR1A	MADD	RPS24	MYSM1	CDT1	PLOD3	ECE1	MAF	WNT5A	ADA2	WNT9B	ARX	SEPTIN9	COG5	DHCR24	SMARCA2	BUB1	FN1	CFAP418	EYA1	ZNF462	ARL13B	EXOSC9	RDH11	ACOX1	SATB1	PUS7	ERCC1	CHRNA1	WBP11	TBX2	PRKDC	GRIP1	TRPS1	GP1BB	CENPJ	YWHAE	NDE1	NOTCH3	KAT5	LMOD3	MLXIPL	SRY	DONSON	ALG8	CNOT1	MCTP2	IFT172	PRPS1	EIF4A3	KCTD1	SPECC1L	LIMK1	CAMKMT	CNOT2	KCNK4	RPS17	RPS7	RXYLT1	VAC14	PUF60	HSD17B4	BBS9	KMT2D	PIBF1	SPOP	UBE4B	LMX1B	NSD2	ARVCF	KIF14	SUZ12	USP7	SNAP25	HOXD13	PHOX2B	PAX7	HUWE1	MINPP1	RPS27	DDB1	MPDZ	ZNF699	RET	AP3D1	BCL11B	RNASEH2B	FZD2	METTL5	SHOC2	TBX15	RPS20	BMP2	TBC1D20	MECP2	LFNG	TUBB3	DHPS	VANGL2	GPC6	MMP23B	POLR3A	KIF15	PTH1R	EXT1	STXBP1	TMEM165	GNB2	HS6ST2	RPGRIP1	SLC37A4	PEX2	MEF2C	UPF3B	BUB3	TBL2	ACER3	ZIC3	TRAF7	SAMHD1	EXOC2	QARS1	RASA2	CHUK	MVK	B3GALT6	ALX1	GNS	GK	BBS12	CCNK	NFIX	STAG1	DPH1	TPM2	POLE	LMBRD1	TMEM270	DYNC2LI1	FAT4	BBS4	BBS1	ACP5	PUM1	PPP2R5D	AIFM1	PAX1	SOX6	CBY1	B3GAT3	CPT2	ZBTB20	SRD5A3	STX1A	ADAMTS18	BCL11A	RAB23	SYNGAP1	RPL11	SLC18A3	HS2ST1	CASZ1	MTHFR	RPL26	GATA4	JMJD1C	GTF2IRD2	TPM3	ARL6	ARMC9	WARS2	SPART	KCNJ5	PPP2R3C	SLC39A8	LUZP1	SPINT2	HES7	MRPS16	SETD1A	B4GAT1	TBR1	BMPER	IPO8	GJA1	ZC4H2	CSNK2A1	CDH11	SOX4	GABRD	PPP1R21	COG7	EIF5A	WNT3	ATPAF2	TREX1	DPF2	DHX16
HP_POSTERIORLY_ROTATED_EARS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIORLY_ROTATED_EARS	RERE	UNC80	KAT6A	TMEM237	TBCE	CDC6	CEP120	B3GALNT2	RTTN	SRCAP	HYLS1	XYLT1	BRAF	SMG8	MGAT2	RRAS	RBM8A	FREM1	CDC42	PREPL	RIT1	GTF2I	EZH2	NCF1	HSPG2	ROR2	CEP41	PIEZO2	DAG1	FBXO11	YY1	CDH2	SOS1	EIF4H	FAM149B1	NELFA	AMER1	AHI1	SDCCAG8	MAB21L1	LRP2	IFT27	RBM10	LETM1	DLK1	CANT1	COL11A2	B9D1	UMPS	BBS5	OTX2	EBF3	MYCN	IFT74	NSDHL	PEX14	CEP290	CEP19	ESCO2	EDN1	TMEM216	TOGARAM1	MITF	SMC3	MID1	SLC25A24	BBS7	PNPLA6	WAC	SMC1A	PTPN11	DHODH	EED	GMNN	NALCN	RECQL4	CPLX1	FREM2	MRAS	BUB1B	ZEB2	BCL7B	SMG9	SKI	CLCN3	SLC3A1	PEX6	PPM1D	HRAS	COL4A1	PEX1	KDM6A	ACAN	TCF20	FAM20C	SMOC1	CD96	POMGNT2	TOPORS	PEX3	NPHP1	PPM1B	PDE4D	ATRX	PIGV	PRDM16	POGZ	CHD7	RAB18	CSPP1	SEMA5A	ALX3	ARID1B	NXN	RAB3GAP1	HOXB1	METTL27	GALNT2	DHCR7	RAB3GAP2	GLE1	PIGN	CEP57	TMCO1	DVL1	SNRPB	TBL1XR1	CDK13	PEX11B	MAP1B	HBA1	GPC3	FGFR1	FGD1	ASXL1	RAD21	PLAA	TRIM32	GLI3	TRRAP	ELN	ERF	DDR2	USP9X	AP1G1	C2CD3	KCNH1	RFC2	PEX13	COX7B	KRAS	OFD1	INPP5E	FRAS1	SMARCD2	LIG4	RIPPLY2	BICRA	FKBP6	SPRED2	KIAA0753	PIGB	DOK7	FLNA	BRD4	SMPD4	MAPRE2	BMP4	RUSC2	OTUD5	MKKS	PEX16	TGDS	AP3B1	CTBP1	ITCH	BUD23	BCOR	CDK10	KIF7	POMK	DNAJC30	TCTN1	TFAP2A	MRPS28	DLL3	TLK2	MEG3	PEX26	FLI1	SIAH1	VPS37D	POC1A	ECE1	MAF	RAI1	WNT5A	CRPPA	PPP1CB	TAPT1	FDFT1	NUP88	TMEM107	COG5	DHCR24	SMARCA2	BUB1	FN1	GNAI3	CFAP418	SLC26A2	TFE3	TMEM67	PIGU	FRMD4A	POMT2	MKS1	TMEM138	TUBB	TRIP13	NF1	B3GLCT	MESD	CC2D2A	SATB1	ERCC1	ORC6	CPLANE1	SOX5	GRIP1	CDT1	TRPS1	GBA	AFF4	MYOD1	EXOSC2	NOTCH3	ORC1	PIGG	MLXIPL	SUPT16H	SRY	HDAC8	RALA	ORC4	KDM4B	IFT172	CTCF	RAF1	TCTN2	LIMK1	SPRED1	CAMKMT	RXYLT1	KAT6B	PUF60	BBS9	KMT2D	PRKCZ	RAPSN	SPOP	UBE4B	LZTR1	NSD2	SEMA3E	MESP2	SOD1	SUZ12	PEX5	FGFR2	ACTG2	LARGE1	HOXD13	PHOX2B	PAX7	HUWE1	MPDZ	ZNF699	ARID2	ADNP	PRRX1	POMT1	BCL11B	GPX4	FZD2	DIS3L2	FKTN	METTL5	KCNAB2	SHOC2	FHL1	CBL	COG1	BMP2	FBN1	TBC1D20	OCRL	PEX19	PIGS	LFNG	DSE	RPS26	GPC6	MMP23B	RPGRIP1L	PLCB4	XYLT2	HERC1	EXT1	PDPN	TMEM165	NSUN2	RPGRIP1	PEX2	NRAS	SOS2	MUSK	BUB3	TBL2	MAPK1	CDC45	TMEM231	QARS1	RTL1	RASA2	B9D2	MBTPS1	MVK	B3GALT6	ALX1	SIX2	SPEN	BBS12	CCNK	SPECC1L	NIPBL	KIAA0586	POLE	MAP2K1	ZNF423	TMEM270	BBS4	BBS1	LZTFL1	CPT2	FKRP	MAP2K2	STX1A	MYH3	DVL3	ADAMTS18	ASXL2	KIAA1109	HBA2	TRPV4	BAZ1B	TCTN3	POMGNT1	CHST14	HS2ST1	CASZ1	SCAPER	MAP3K7	RRAS2	ERMARD	BBS10	SLC18A3	TXNDC15	RMRP	GTF2IRD2	PDE6D	ARL6	BBIP1	SOX11	MRPS22	PPP2R3C	LUZP1	BBS2	RPS28	HES7	B4GAT1	NAA10	WDPCP	ASXL3	ALG9	ATN1	TTC8	TBR1	PEX10	IPO8	GPC4	POLR3A	ZMYM2	COL2A1	CTNND2	CDH11	SOX4	SF3B4	PEX12	NSD1	GABRD	PYCR1	CLIP2	MN1	GTF2IRD1	NFIX	DPF2	RNU4ATAC	ZC4H2	DHX16
HP_ABNORMALITY_OF_THE_INNER_EAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_INNER_EAR	ARSG	RASA2	ORC1	FGF3	VHL	CIB2	GREB1L	SLC26A4	SIX1	RRAS	KCNJ10	MRAS	POLR1D	RIT1	COL4A6	TP63	COCH	RAF1	NDP	TIMM8A	WHRN	KRAS	ERF	HRAS	SOS1	EYA1	MT-TS2	FGFR2	PTEN	POLR1C	GJB6	USH1G	CDH23	SETBP1	KARS1	SPRED2	FOXI1	SOX10	ESPN	POU3F4	MYO7A	CHD7	SPRED1	NF2	HARS1	SRCAP	CLRN1	TWIST1	OTX2	FGFR3	NRAS	PCDH15	SOS2	SEMA3E	GJB2	USH2A	ESRP1	DDX11	POLR1B	CBL	RRAS2	SALL4	PEX6	AKT1	USH1C	ADGRV1	PDZD7	MAFB	CEP78	CHN1	SIX5	TCOF1	LZTR1	PTPN11	PRRX1
HP_TINNITUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TINNITUS	NF1	SDHC	AIFM1	DKK1	RET	SLC12A3	MIR96	KCNJ5	SDHD	CACNA1A	SDHAF2	CYP11B2	CYP11B1	CACNA1D	COCH	GRM1	SLC39A14	PMP22	SLC25A11	TET2	MAX	VHL	SMARCB1	FH	CLCN2	MDH2	BAP1	SDHB	KCNQ4	SUFU	TMC1	SMARCE1	KIF1B	DNMT3A	NF2	SDHA	DSPP	SLC44A4	DLST	OSBPL2	SCN1A	TMEM127	TRAF7	TERT	DIABLO	MPL	P2RX2	EPAS1	PDGFB	SMO	PRRT2	NAGA	CLCNKB	JAK2	AKT1	CCND1	ATP1A2	MFN2	PIK3CA
HP_OTOSCLEROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OTOSCLEROSIS	IDS	COL1A1	COL1A2	BPTF	GDF6	PSMD12
HP_ABNORMAL_EARLOBE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EARLOBE_MORPHOLOGY	CENPJ	SPEN	COMT	ZEB2	MLXIPL	ATR	BRAF	EFTUD2	GPC3	ESCO2	DPYD	NUP85	FIG4	TBX1	KCTD1	CEP152	AHDC1	ATRIP	HCCS	GPC4	PRR12	FGD1	UGDH	CREBBP	RBM10	BICRA	PIGB	ELN	BMP4	PIGY	GLI3	SLC26A2	HBA2	HMX1	EBF3	PTPRF	OTUD5	COL3A1	SEMA3E	VPS13B	ARVCF	PLAGL1	HS2ST1	ABHD5	NOTCH2	CDH11	EIF2S3	KAT6A	UFD1	PLK4	DOCK7	CRKL	CDC6	CUL4B	CENPE	PCNT	JMJD1C	FLI1	BCR	TBL1XR1	B4GALT7	HIRA	EP300	KMT2C	HRAS	RAC1	PHF6	DHCR24	FN1	FGFR2	SLC35C1	SMOC1	POLR3A	GJA1	PIK3CA	ZMYM2	RDH11	COL2A1	TRAIP	SETBP1	HYMAI	COX7B	ZNF407	SMARCD1	POR	MGAT2	SMS	CHD7	GRIA3	PIGQ	MAPK1	VPS53	NDUFB11	SEC24C	RREB1	GP1BB	EHMT1	IL1RAPL1	RBBP8	HBA1
HP_LOW_SET_POSTERIORLY_ROTATED_EARS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_SET_POSTERIORLY_ROTATED_EARS	PIGG	MLXIPL	UNC80	SRY	KAT6A	TMEM237	HDAC8	TBCE	CEP120	RTTN	MKS1	HYLS1	XYLT1	RRAS	BRAF	TMEM216	RBM8A	CDC42	PREPL	RIT1	IFT172	GTF2I	EZH2	NCF1	CTCF	RAF1	HSPG2	ROR2	CEP41	C2CD3	TCTN2	LIMK1	SPRED1	CAMKMT	EIF4H	FAM149B1	NELFA	AHI1	SDCCAG8	BBS9	IFT27	RBM10	PRKCZ	LETM1	DLK1	CANT1	B9D1	CSPP1	UMPS	BBS5	OTX2	UBE4B	NSD2	IFT74	SEMA3E	MESP2	SOD1	PEX14	CEP290	SUZ12	PEX5	FGFR2	CEP19	ACTG2	EDN1	HOXD13	CC2D2A	ARID2	SMC3	ADNP	PRRX1	BBS7	PNPLA6	DHODH	EED	NALCN	METTL5	RECQL4	KCNAB2	CPLX1	FREM2	MRAS	BUB1B	COG1	BCL7B	SKI	TBC1D20	SLC3A1	PEX6	OCRL	PEX19	LFNG	DSE	PEX1	SOS1	ACAN	SHOC2	MMP23B	SMOC1	RPGRIP1L	PLCB4	CPLANE1	TOPORS	HERC1	EXT1	PDPN	NPHP1	PPM1B	MGAT2	PRDM16	NSUN2	CHD7	RERE	RPGRIP1	RAB18	SEMA5A	PEX2	ALX3	NXN	NRAS	SOS2	RAB3GAP1	METTL27	BUB3	TBL2	GALNT2	MAPK1	RAB3GAP2	GLE1	PIGN	CEP57	TMCO1	PEX11B	SMC1A	TMEM231	HBA1	RASA2	GPC3	B9D2	FGFR1	FGD1	DHCR7	ASXL1	ALX1	SPEN	RAD21	PLAA	TRIM32	MVK	BBS12	NIPBL	ELN	ERF	KIAA0586	MAP2K1	ZNF423	TMEM270	RFC2	PEX13	BBS4	KRAS	BBS1	OFD1	INPP5E	FRAS1	LZTFL1	LIG4	RIPPLY2	FKBP6	SPRED2	KIAA0753	SLC25A24	MAP2K2	BRD4	STX1A	MYH3	MAPRE2	PTPN11	HBA2	KIF7	TRPV4	BAZ1B	MKKS	PEX16	TCTN3	TGDS	CHST14	CASZ1	SCAPER	CTBP1	ITCH	RRAS2	USP9X	BUD23	ERMARD	BCOR	BBS10	TXNDC15	RMRP	DNAJC30	TCTN1	ARID1B	TFAP2A	GLI3	LZTR1	MRPS28	DLL3	RTL1	MEG3	B3GALT6	CD96	FLI1	GTF2IRD2	PDE6D	ARL6	VPS37D	RAI1	PEX26	BBIP1	FDFT1	HRAS	PPP1CB	LUZP1	BBS2	TMEM107	HES7	DHCR24	NAA10	WDPCP	BUB1	GNAI3	CFAP418	SLC26A2	TTC8	TBR1	TMEM67	PEX10	FRMD4A	GPC4	TMEM138	TUBB	TRIP13	CTNND2	NF1	B3GLCT	PEX12	NSD1	SF3B4	GABRD	ERCC1	ALG9	GRIP1	CLIP2	CBL	TRPS1	GBA	AFF4	GTF2IRD1	ZC4H2	PEX3
HP_ABNORMALITY_OF_THE_MIDDLE_EAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MIDDLE_EAR	PROM1	OFD1	NTNG2	WAS	ZEB2	CCDC40	DLK1	JAK3	AGA	IL6ST	DNAAF5	PNP	MED27	EIF4H	HDAC4	TCF3	TAP1	FAM149B1	RUNX2	PRRX1	USB1	LRRC56	UBB	TWIST1	ALOXE3	CHRNG	CD3D	RSPH1	SALL4	DLST	FGF10	COL1A2	TAPBP	LRAT	EMC10	BLNK	LMNA	SLC7A14	PCARE	FRAS1	SMC3	TBX4	SEMA3E	DNAAF1	PTPN23	CIITA	TRIP12	DHODH	IRF6	LRRC8A	GMNN	HGSNAT	IGHM	MEG3	CPLX1	FREM2	POLR1D	SKI	SPTBN1	RSPH9	KDM6A	FBXW11	WDFY3	PIK3C2A	ALMS1	FAM20C	RAI1	GJA1	TCF20	NIPBL	DNAH5	PLG	ODAD3	RTL1	TELO2	CRX	ALX3	BCORL1	RLIM	DNAJB13	GATA1	METTL27	MAP3K7	GALNT2	DHCR7	CFAP298	ARL6	BCOR	NKX2-1	NCF4	MYT1L	FLNA	VHL	GUCA1B	PTPN22	AIRE	IDS	SPEN	CERKL	ADAT3	RP1L1	NOG	LONP1	RAD21	DRC1	CCDC39	ELN	DNAAF11	TBX1	SDHAF2	SPAG1	ODAD1	LBR	CD19	FGFR3	KMT2E	ADAMTS3	CD79B	MGP	FKBP6	BRD4	CREBBP	GDF6	MS4A1	TPP2	NSD1	IL2RB	HPDL	AGBL5	RET	STAC3	ICOS	CCDC65	TGDS	PLCG2	BUD23	ZNF469	SDHD	PRCD	DNAJC30	SDHB	TFAP2A	TCF7L2	RNU4ATAC	PUS7	TLK2	RAG1	SNX10	IGBP1	SYNCRIP	VPS37D	DCLRE1C	DEAF1	EP300	AGO2	DHDDS	ARL2BP	HYAL1	TFE3	LIPN	TNFRSF13B	CFAP52	TP63	CXCR4	FGFR2	TAF1	PRDM5	COL1A1	TMEM127	PRKCD	HNRNPK	KAT8	SEMA4A	SETD1A	SLITRK6	IKBKB	ADA2	AFF4	PORCN	PRPF31	TNFRSF11A	NF1	PIGG	ZMYND10	HDAC8	FLNB	PRPF3	ABCA12	KDM4B	IFT140	ODAD2	CTBP1	RP1	TBX22	PRKCZ	POU3F4	PTPRC	DCHS1	RELB	AMER1	SIX1	FANCI	RAG2	NECTIN1	NCF2	CD247	TNRC6B	UNC119	TNFSF12	UFD1	CCBE1	ARID2	IFT88	FAM161A	HIRA	CFI	MCIDAS	KCNAB2	PDE6A	KLHL7	GDF5	DHX38	ARHGAP29	EDNRA	CLCN7	OCRL	ACTL6A	ROM1	GJB6	MDH2	RDH12	CPLANE1	SETBP1	PDPN	PRPF6	GSC	GAS2L2	SEC24C	MAPK1	SNRPB	MASP1	CD79A	ANAPC1	SNRNP200	HS2ST1	DNAAF6	ANKRD17	APC2	SRCAP	HSPG2	NCF1	TMEM216	EFTUD2	SATB1	CD3G	NFKB2	BPTF	CCNO	MAGT1	NOTCH2NLC	RBP3	FOXJ1	CNOT3	ANKH	PRPH2	SAG	DNAI2	TSR2	RPGR	PCYT1A	KIF7	RFXANK	BAZ1B	RNF2	RHO	FMR1	CDCA7	SDHC	MAN2B1	SOST	JAGN1	RAC2	NOTCH2	TCTN3	ANKRD11	WIPF1	BEST1	RNF168	CD81	MERTK	ERCC8	ELMO2	ENPP1	SYK	MPDU1	HLA-DRB1	SVBP	PCGF2	ZNF513	PDE6D	NBN	RP9	TCIRG1	FSCN2	FANCF	TTC8	TAOK1	HEPHL1	FGF3	STK36	FH	ATN1	WASF1	SLC35C1	CLRN1	TGM1	FCGR3A	NEK10	SF3B4	TULP1	IL7R	ERCC6	SDHA	RPL11	CRB1	RREB1	IQSEC2	CLIP2	GTF2IRD1	GJB2	DVL1	CD4	SIX5	BTK	HYDIN	COMT	ZMIZ1	HOXA2	TRMT1	KANSL1	HAX1	KIZ	GTF2I	NEK2	CTLA4	AK2	ARSL	DNAAF2	SLC25A11	ROR2	EYA1	DOCK3	ERF	RPS23	NELFA	POLR1C	ELANE	IGKC	IMPG1	SDCCAG8	LETM1	ODAD4	ZMPSTE24	DNMT3A	MYCN	DNAI1	ACTL6B	POMGNT1	CHD7	DLG1	NFIX	DPYSL5	NEK1	REEP6	DNAH1	SLC25A24	SH3KBP1	CA2	RECQL4	OSTM1	MAPK8IP3	KCNMA1	ABCA4	BCL7B	MYH3	CFAP300	HLA-DPA1	SPATA7	WDR26	TOPORS	POR	PRDM16	KIF1B	MSX1	NXN	IGLL1	BBS2	NSD2	CCDC32	FAT4	FKBP14	GATA2	LRBA	SMC1A	CNGB1	AIFM1	RERE	TP73	ZNF408	CA4	DDR2	SLC12A2	RFC2	PDE6G	SMARCA2	UBR7	SMARCD2	DNAAF4	KIAA0753	COL2A1	GRIA4	IMPG2	RGR	CR2	RFX5	CDHR1	NCKAP1L	FOXP1	SDR9C7	SCAPER	IGHG2	BLM	AP3B1	OTOF	ZBTB20	RFXAP	EYS	PRPF8	TCOF1	IL2RG	TMEM67	FLII	ARHGEF18	PIGL	EDN1	TUB	PRTN3	CYP4F22	IFT172	PDE6B	PEPD	HLA-DPB1	NTNG1	POLR1B	B3GLCT	PSMD12	CFAP418	GRIP1	TRPS1	GP1BB	GRHL3	ACVR1	CFAP221	AMMECR1	DNAL1	GNPTAB	NOTCH3	FGF9	MLXIPL	SRY	USH2A	CNOT1	HLA-B	ABCC6	ZNF341	MED13	CTSK	TTC12	NR2E3	TSHZ1	RP2	LIMK1	CLCN3	COL11A2	PSMB8	IMPDH1	PGM3	KMT2D	GAS8	CD3E	MNS1	CYBB	TNFRSF13C	DNAAF3	SGMS2	UBE4B	ARVCF	AHR	CDH11	IL17RA	DDB1	SPEF2	ZNF699	TANC2	MEOX1	NIPAL4	STAT3	IDH3B	SC5D	DDX6	RSPH3	DOCK8	EYA4	BCAS3	NFKB1	LRP5	SETD2	MADD	PGM1	PALS1	BMP2	FBN1	DIAPH3	ALOX12B	PAX1	RAC1	RPS26	MMP23B	GUSB	IL6R	KIF15	RPE65	TXNL4A	EXT1	TNFSF11	P4HA2	GNB2	NAA10	NRL	SLC37A4	IDH3A	TBL2	CARMIL2	A2ML1	PIK3R1	B3GALT6	ALX1	FGFRL1	CTNND1	CYBA	SPECC1L	CCDC47	TMEM270	ACP5	DLX4	HTT	STX1A	RSPH4A	MAK	KIAA1549	DNAH9	RAB23	ARL3	BMP4	ELMOD3	CASZ1	CNGA1	LMBRD2	JMJD1C	GTF2IRD2	SH2B1	IL21R	CCDC103	LUZP1	RPS28	MAX	SULT2B1	CFAP45	POLR3A	GABRD	ADA	PRPF4	HUWE1	CREB3L1	CDH1	EIF5A	RLBP1	EPAS1	DNAH11	TAP2	TRAPPC4	SMCHD1	CYBC1	NME8	DPF2	JARID2	AHI1
HP_ACUTE_OTITIS_MEDIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_OTITIS_MEDIA	RFX5	JAK3	RFXAP	CIITA	RFXANK
HP_ABNORMALITY_OF_THE_AUDITORY_CANAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_AUDITORY_CANAL	MAF	ORC1	COL2A1	TWIST2	SLC12A2	FKTN	POR	DCHS1	HDAC8	HOXA2	FGFR2	GMNN	CPLX1	FGFRL1	ORC4	CDC6	RAD21	SIX1	FREM2	GLI3	TBX15	EFTUD2	EDN1	TCOF1	NIPBL	DDR2	LETM1	ADAM17	EGFR	TBC1D24	EDNRA	PAX1	CTBP1	ERBB3	TSHZ1	MRTFA	EYA1	POMT1	RPS26	FRAS1	IPO8	VPS37A	BRD4	SF3B4	MED12	GSC	TP63	HMX1	CHRNG	B3GLCT	RPL11	GNAI3	FKRP	PORCN	SOST	GRIP1	POMT2	CDT1	NSD2	RPL26	SALL4	SMCHD1	SNRPB	FAT4	CDC45	MAFB	CHN1	SMC1A	SIX5	ORC6	ATP6V1B2	SMC3	COL7A1	LARGE1	NOTCH3
HP_ABNORMAL_COCHLEA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_COCHLEA_MORPHOLOGY	ARSG	ORC1	SETBP1	FOXI1	ESPN	KCNJ10	CIB2	GREB1L	MYO7A	SLC26A4	SIX1	HARS1	SRCAP	CLRN1	PCDH15	COL4A6	POU3F4	COCH	DDX11	NDP	TIMM8A	PEX6	EYA1	MT-TS2	USH1C	CEP78	SIX5	USH1G	CDH23
HP_INCOMPLETE_PARTITION_OF_THE_COCHLEA_TYPE_II	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCOMPLETE_PARTITION_OF_THE_COCHLEA_TYPE_II	ORC1	EYA1	FOXI1	KCNJ10	SLC26A4	SIX1
HP_ABNORMALITY_OF_THE_PINNA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PINNA	RERE	ELN	FKTN	NTNG2	MECP2	ZEB2	EED	NALCN	B3GALNT2	RTTN	RB1	SMG8	MGAT2	RRAS	CDKN1C	GPC3	DOCK7	AGA	FREM1	RIT1	CEP120	HSPG2	COL6A2	DCAF17	RAB11B	FBN2	CDH2	SOS1	MED27	EIF4H	PAK1	PIGW	ERCC3	CTU2	TTC26	MAB21L1	PAH	RBM10	GTPBP2	ODC1	TUBG1	DSE	WDR19	WDR4	SRCAP	TWIST1	ALOXE3	HMX1	EBF3	FGF10	TBCD	RPL10	PACS1	PTEN	CASK	BICD2	ESCO2	EMC10	CRKL	LMNA	PCLO	CILK1	FRAS1	ERCC2	KDSR	SMC3	TBX4	SEMA3E	CHST3	PTPN23	RAC1	EHMT1	PNPLA6	MBTPS2	TRIP12	KATNB1	DHODH	GMNN	NAA10	B4GALT7	ERLIN2	AEBP1	CPLX1	COLEC10	CRPPA	POU3F3	POLR1D	EFEMP2	SHANK3	MED13L	ALG3	SKI	KMT2C	CLCN3	RPL27	FANCB	WNT7A	SPTBN1	KNSTRN	AP4E1	DSP	KDM6A	DHX37	FGF3	FBXW11	WDFY3	COL6A3	DDX6	ALMS1	RAB3GAP1	FAM20C	BRAF	RPL35A	SMOC1	TCF20	RPS26	ITGB4	NIPBL	FLNA	PSAT1	TARS1	SMS	RPS15A	IGF2	JAG1	CSPP1	BCORL1	RLIM	GATA1	ZDHHC9	METTL27	RNU4ATAC	CREBBP	BCOR	RAB3GAP2	PPP1R12A	RPS6KA3	DPP6	DYRK1A	MYT1L	FAR1	PBX1	CENPJ	PLOD1	SPEN	RPL15	ADAT3	LONP1	RAD21	INSR	GLI3	FGFR2	TBX1	C2CD3	MAN2B1	EDN1	KRAS	ZMPSTE24	QRICH1	KMT2E	TENM3	BMP1	UBE3B	MGP	FKBP6	PAM16	PIGB	BRD4	RAB18	HPDL	SLC26A2	PEX5	SLC6A17	OTUD5	GLI2	KCNK9	ERCC6	POLA1	BUD23	ATP6V1A	PMM2	MSL3	DNAJC30	SLC2A10	TFAP2A	TCF7L2	PHIP	PUS7	LGI4	HDAC8	FLI1	SIAH1	IGBP1	TWIST2	SYNCRIP	VPS37D	POC1A	AASS	SLC16A2	TUBGCP2	KIF11	TAPT1	FDFT1	AGO2	CCNQ	PPP1CB	RPS19	GBA	ZIC2	PTDSS1	EMC1	TCF4	MASP1	PHF6	CCDC8	ERCC8	TP63	GNAI3	SALL1	GON7	LIPN	POMT2	IQSEC2	EP300	PGAP1	HYMAI	KDM3B	NF1	MESD	MAPRE2	TAF1	PIGQ	ORC6	NDUFB11	HNRNPK	KAT8	SETD1A	ETFA	ACTB	AFF4	ATP6V1B2	GNB1	KCNJ11	TNNT3	LRP4	PYCR2	PIGK	PTPN11	KDM6B	ORC1	MSX2	PIGG	SUPT16H	RAI1	ALDH18A1	ORC4	KDM4B	CLTC	RIPK4	TTI2	ABCA12	ETFDH	CPE	AIP	FIG4	AP1S2	CTCF	RAF1	AFF2	CTBP1	CEP152	MEGF8	GLB1	HSPA9	NUP188	NIPA1	TBX22	ZMIZ1	FMR1	FGD1	MAN1B1	ALG12	PIGN	RPS28	PRKCZ	VPS51	DCHS1	CCDC32	ZNF148	RPL35	DLX4	PTPRF	ANTXR1	FKRP	PIGL	TNPO2	RPL5	NECTIN1	TNRC6B	NEXMIF	LARGE1	FRMD4A	CUL4B	FGFR3	UFD1	EDEM3	FOXP2	BRWD3	ADAMTSL1	CENPE	DACT1	DIS3L2	HIRA	KCNAB2	PPP1R15B	SF3B4	AGPAT2	CBL	COG1	HYLS1	GJB3	EDNRA	OCRL	FBN1	PIGS	ACTL6A	ACBD5	HERC1	SETBP1	PDPN	PLEC	MAP3K7	TP53RK	KLF13	NSUN2	COL3A1	MAPK1	MCM5	NRAS	SOS2	SEC24C	ERCC4	PSMC3	CHRNA1	CDC45	PQBP1	GRIA4	HS2ST1	ANKRD17	TUBGCP6	RTL1	POR	CPOX	MBTPS1	GAD1	EFTUD2	SATB1	AHSG	RSPO2	NUP85	KIAA0586	MAP2K1	SNAP29	ANKRD11	TAB2	BPTF	PGAP3	UGDH	BIN1	MAP2K2	MPLKIP	TSR2	DNAJC21	NIPA2	PIGY	COLEC11	HBA2	PIK3CA	BAZ1B	MEG3	RNF2	POMGNT1	EBP	NOTCH2	TCTN3	RRAS2	EIF2S3	PLK4	UBE2A	RMRP	ARID1B	ENPP1	SIN3A	GPR101	CLCF1	SVBP	PCGF2	NIN	FOXL2	NBN	TTN	PRUNE1	DENND5A	FANCF	CHST14	PTCH1	FBLN5	ARX	C12orf57	ZNF292	ALG9	MBD5	INTS1	WASF1	JUP	SLC35C1	KCNQ1	GPC4	TGM1	ZMYM2	RPL31	COL2A1	TRAIP	FOXG1	TTC37	MED12	NSD1	SON	PLCB4	RPS29	B3GLCT	GRIA3	WDR73	TOE1	RREB1	DDX11	CLIP2	MN1	SH3PXD2B	GTF2IRD1	MID2	OTUD6B	TRIO	ADAMTSL2	CWC27	SMAD4	TGFB3	COMT	HOXA2	CDC6	CLIC2	TRMT1	KANSL1	ITGB6	COL6A1	FRMPD4	EVC	GTF2I	EZH2	NCF1	KCNQ1OT1	ZNHIT3	DOCK3	DAG1	FBXO11	DOCK6	RPS23	TOR1A	AHDC1	NELFA	POLR1C	RPL18	AMER1	HCCS	SET	INTU	LETM1	TAFAZZIN	FIBP	YY1	TPRKB	NHS	FTSJ1	BRPF1	OBSL1	GTF2E2	ACTL6B	CHD7	DPYSL5	NEK1	PHGDH	TUBGCP4	CHD4	KDM5C	WAC	SMC1A	CA2	RHOBTB2	WFS1	SLC1A4	WDR35	MAPK8IP3	MRAS	KCNMA1	BCL7B	SMG9	ARID1A	NDP	COL4A1	KCNN3	RPS10	TFAP2B	TASP1	FGFR1	POMGNT2	GJA1	NDE1	HMGB3	ATRX	PRDM16	FANCL	NARS1	KCTD1	VPS53	SLC2A1	NSD2	ERF	STAG2	UBA1	FAT4	AMPD2	TBL1XR1	AKT1	MAP1B	CAMTA1	HBA1	COL5A1	TPM2	CAMK2G	SPEG	LSS	DDR2	RYR1	SLC12A2	RFC2	POMT1	PIEZO1	RSPRY1	SMARCA2	UBR7	SMARCD2	LIG4	SIM1	STEEP1	PRR12	PRDX1	BICRA	SPRED2	SMPD4	BMP4	KCNJ1	ATR	PGAP2	PIK3R1	XYLT2	FOXP1	SDR9C7	ETFB	VPS13B	PLAGL1	ABHD5	TGDS	ZBTB20	CDK10	POMK	NR2F1	TCOF1	PCNT	KIF7	CD96	KCNH1	COL11A1	RPS24	CDT1	SPOP	PLOD3	ECE1	MAF	RBMX	KIF1A	ADA2	PIK3CD	CYP4F22	PEX1	HHAT	DHCR24	FN1	TRPS1	EYA1	BSND	WNT4	PTF1A	ZNF462	NTNG1	RDH11	PIEZO2	COX7B	PYCR1	PSMD12	CNOT3	DLK1	H19	TBX2	CEP57	GP1BB	AMMECR1	CIT	MLXIPL	GDF11	ZBTB18	CNOT1	APC	ABCC6	EIF4A3	MED13	SPECC1L	LIMK1	LAGE3	PSMB8	RPS17	RPS7	RXYLT1	KAT6B	PUF60	KMT2D	CHRNA7	UBE4B	LMX1B	BMP2	ARVCF	ALKBH8	EVC2	SUZ12	CDH11	KAT6A	KDM5B	HUWE1	IDH1	SLC12A6	RPS27	DDB1	NUP107	ZNF699	TANC2	MEOX1	ERCC1	AP3D1	NIPAL4	OSGEP	POLR1A	METTL5	BCAS3	LMNB1	TBX15	BSCL2	MADD	RPS20	PALS1	PIGV	NANS	TET3	TBC1D20	ALOX12B	PAX1	TRAPPC9	TBC1D23	SHOC2	MMP23B	POLR3A	KIF15	TXNL4A	EXT1	ZNF407	GTF2H5	STXBP1	MYH3	GNB2	HS6ST2	ABCC8	LAS1L	PORCN	UPF3B	TBL2	ACTG1	WNT3	IL1RAPL1	RBBP8	RIC1	ASNS	TRAF7	EXOC2	RASA2	CHUK	ADNP	FGFRL1	CUL7	TNNI2	FBXL4	DPYD	NFIX	POLE	CCDC47	LMBRD1	TMEM270	RECQL4	MMACHC	SOX6	HTT	ATRIP	SSR4	HECW2	B3GAT3	CPT2	NUP133	STX1A	SCARF2	BCL11A	OPHN1	RAB23	CLCNKB	RNF113A	SYNGAP1	RPL11	CASZ1	POLR1B	LMBRD2	RPL26	SLC9A6	ITGA3	LZTR1	MINPP1	JMJD1C	BHLHA9	BCR	GTF2IRD2	SIX1	BLM	PIGO	YME1L1	SLC6A8	GJB4	NKAP	PPP2R3C	HRAS	LUZP1	TRMT10A	B4GAT1	SULT2B1	B9D2	IPO8	HOXA13	PIGA	SMARCD1	ZNF711	GABRD	THOC2	DLX5	PAK3	COG7	EIF5A	KIFBP	PEX2	TRAPPC4	SMCHD1	CAPN15	DPF2	JARID2	DHX16	CLCNKA
HP_CUPPED_EAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUPPED_EAR	CHD4	SUPT16H	DHODH	IGBP1	ZEB2	SIX1	RIPK4	FOXL2	PIGO	ECE1	KDM6A	POU3F3	PQBP1	FGFR2	FIG4	PIGV	EDNRA	CTCF	FBXW11	KCTD1	FGF10	SPTBN1	TCF4	ZNF292	PAX1	MBD5	PIEZO1	EYA1	PIGW	QRICH1	IPO8	ZNF462	PGAP3	PRR12	PIGN	DNAJC21	MED12	FGFR3	SMS	TWIST1	BCL11A	PGAP2	PIGY	GNAI3	TBX2	PIGL	EIF5A	CHD7	DDX11	ODC1	AFF4	HUWE1	FRAS1	BRWD3	DHCR24	BCOR	SIN3A	SEMA3E	DACT1
HP_STAPES_ANKYLOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STAPES_ANKYLOSIS	GJB2	NOG	POU3F4	ABCC6	ENPP1	GJB6	RAD21
HP_ABNORMALITY_OF_PERIAURICULAR_REGION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_PERIAURICULAR_REGION	NKX2-5	KAT6A	CITED2	ALX1	CPLX1	FGFRL1	KDM6A	LRP1	HK1	ANK1	SNRPN	EFTUD2	GPC3	FLNB	NKX2-6	CTBP1	EYA1	SPECC1L	PAX1	MED12	GATA6	TFAP2A	POLR1C	UBE3B	GPC4	KMT2D	ODC1	IRX5	GATA4	PRMT7	SIX1	FGFR1	XYLT2	GNAI3	RAB23	ZFPM2	LRP5	SEMA3E	HNRNPK	VPS13B	KDR	POLR1B	FGFR2	EDN1	GATA5	SALL4	BCOR	ALX3	UBE2A	MSL3	MITF	TCOF1	KIF7	SYK	MID1	JAG1	GDF1	CCDC22	MED13L	HNRNPU	POLR1D	PPP1CB	LETM1	SALL1	EDNRA	WASHC5	PIGS	TBX1	NAA10	FN1	EIF2AK3	PLCB4	ZNF462	TASP1	TXNL4A	COL2A1	GJA5	TMEM260	ANKRD11	CTNND2	B3GLCT	SF3B4	AUTS2	GSC	CHD7	DACT1	SEMA5A	ARID1B	STAG2	WBP11	NSD2	FLT4	SIX5	EXT2	MAFB	SVBP	CHN1	KCNJ2
HP_PREAURICULAR_SKIN_TAG	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREAURICULAR_SKIN_TAG	UBE3B	CCDC22	ALX1	CPLX1	FGFRL1	KDM6A	MED13L	SIX1	SNRPN	EFTUD2	GPC3	HNRNPU	POLR1D	TCOF1	FLNB	LETM1	KMT2D	SALL1	EDNRA	WASHC5	CTBP1	PIGS	NAA10	FN1	GNAI3	EYA1	POLR1C	PLCB4	TASP1	TXNL4A	GPC4	COL2A1	TMEM260	ANKRD11	CTNND2	ODC1	B3GLCT	IRX5	SF3B4	PRMT7	CHD7	FGFR1	DACT1	SEMA5A	ALX3	ARID1B	STAG2	LRP5	SEMA3E	WBP11	VPS13B	POLR1B	EDN1	NSD2	SALL4	SIX5	BCOR	EXT2	MSL3	MAFB	SVBP	CHN1	KIF7
HP_SMALL_EARLOBE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_EARLOBE	TBX1	ZMYM2	COL2A1	RBM10	COMT	HIRA	SMS	EBF3	PTPRF	KCTD1	FIG4	ARVCF	SEC24C	ABHD5	RREB1	GP1BB	KAT6A	UFD1	FN1	CDC6	AHDC1	SLC35C1	JMJD1C
HP_ABSENT_EARLOBE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_EARLOBE	CENPJ	TRAIP	CREBBP	ZNF407	ESCO2	PLK4	B4GALT7	CEP152	ATR	RBBP8	COL3A1	EP300	HMX1	ATRIP	POLR3A	CENPE	PCNT	NUP85
HP_OTITIS_MEDIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OTITIS_MEDIA	HYDIN	PIGG	MLXIPL	ZMYND10	OFD1	COMT	SRY	DRC1	WAS	ZEB2	ICOS	CCDC40	DLK1	SRCAP	ABCA12	KANSL1	CD19	JAK3	AGA	IL6ST	DNAAF5	CD79A	GTF2I	ODAD2	CTLA4	AK2	NCF1	DNAAF2	ZNF341	ROR2	TTC12	FGFR3	PNP	LIMK1	TNFRSF13B	BLNK	DCLRE1C	EIF4H	TCF3	TAP1	NELFA	GNPTAB	RUNX2	PSMB8	ELANE	CFAP298	TBX1	IGKC	PGM3	KMT2D	SDCCAG8	PTPRC	USB1	LETM1	ODAD4	LRRC56	RELB	UBB	GAS8	CD3E	MNS1	CYBB	TNFRSF13C	ALOXE3	CD3D	RSPH1	DNAAF3	NFKB2	RAG2	NSD2	NECTIN1	NCF2	ARVCF	DNAI1	DLG1	CD247	TAPBP	UNC119	CREBBP	TNFSF12	IL17RA	UFD1	DDB1	NSD1	SPEF2	DNAH1	TBX4	WDR26	DNAAF1	SH3KBP1	NIPAL4	CIITA	STAT3	TP63	IRF6	LRRC8A	IGHM	RSPH3	DOCK8	HIRA	CFI	MCIDAS	MEG3	NFKB1	TPP2	SETD2	CPLX1	PGM1	BCL7B	ARHGAP29	SLC35C1	CFAP300	CLCN7	ALOX12B	RAC1	OCRL	HLA-DPA1	SPTBN1	RSPH9	KDM6A	SPAG1	ALMS1	ADAT3	GUSB	IL6R	KIF15	CR2	NIPBL	DNAH5	TNFSF11	ODAD3	RTL1	GNB2	NAA10	SLC37A4	MSX1	GAS2L2	NXN	DNAJB13	SEC24C	METTL27	TBL2	DHCR7	MAPK1	IGLL1	BCOR	RPGR	NCF4	GATA2	LRBA	ANAPC1	CD79B	CARMIL2	FLNA	PTPN22	DNAAF6	A2ML1	APC2	PIK3R1	CYBA	TP73	CCDC39	STK36	ELN	CD3G	CCDC47	TMEM270	DNAAF11	ODAD1	BPTF	RFC2	DNAL1	FMR1	CCNO	ACP5	MAGT1	LBR	SMARCA2	DLX4	SMARCD2	FOXJ1	MGP	DNAAF4	FKBP6	TNRC6B	DNAI2	STX1A	MS4A1	PCYT1A	RSPH4A	IL2RB	RFX5	RFXANK	NCKAP1L	TAF1	BAZ1B	DNAH9	FOXP1	RNF2	RAI1	CCDC65	SDR9C7	TGDS	BMP4	MAN2B1	JAGN1	RAC2	IGHG2	BLM	AP3B1	PLCG2	CTBP1	COL2A1	WIPF1	MAP3K7	NEK10	RNF168	CD81	BUD23	FGFR2	RFXAP	DNAJC30	RNU4ATAC	SYK	JMJD1C	TLK2	RAG1	IL2RG	GTF2IRD2	SNX10	FLII	VPS37D	NBN	DEAF1	PRKCD	TCIRG1	EP300	IL21R	BTK	TAOK1	CCDC103	PRTN3	HEPHL1	FGF3	CYP4F22	HYAL1	SULT2B1	ATN1	TFE3	LIPN	CFAP45	CFAP52	HLA-DPB1	TGM1	POLR3A	CXCR4	FCGR3A	ANKRD11	PSMD12	IL7R	ADA	RPL11	RREB1	IDS	IQSEC2	CLIP2	DNAH11	TAP2	GP1BB	GRHL3	IKBKB	ADA2	GTF2IRD1	CYBC1	NME8	DPF2	CD4	CFAP221	CDH1
HP_CHRONIC_OTITIS_MEDIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_OTITIS_MEDIA	HYDIN	APC2	PIGG	MLXIPL	ZMYND10	OFD1	PIK3R1	COMT	DRC1	CCDC40	TP73	DNAH5	ABCA12	CD19	STK36	AGA	ELN	NFKB2	CD79A	TMEM270	GTF2I	DNAAF11	TBX1	CTLA4	AK2	NCF1	DNAAF2	SPAG1	ODAD1	ROR2	RFC2	DNAL1	FMR1	TTC12	CCDC39	CCNO	LIMK1	TNFRSF13B	BLNK	EIF4H	TCF3	TAP1	NELFA	RUNX2	CFAP298	FOXJ1	PGM3	DNAAF4	FKBP6	LETM1	ODAD4	STX1A	MS4A1	DNAAF5	LRRC56	GAS8	RPGR	RSPH4A	CR2	ALOXE3	RSPH1	DNAAF3	TAF1	BAZ1B	DNAH9	ICOS	RAI1	CCDC65	SDR9C7	NSD2	NECTIN1	TGDS	ARVCF	DNAI1	TAPBP	CTBP1	WAS	WIPF1	TNFSF12	CD81	BUD23	FGFR2	UFD1	DNAI2	DNAJC30	NSD1	SPEF2	DNAH1	TBX4	JMJD1C	NIPAL4	STAT3	GTF2IRD2	FLII	IRF6	LRRC8A	IGHM	RSPH3	DOCK8	HIRA	MCIDAS	NFKB1	VPS37D	SETD2	CPLX1	DEAF1	TNFRSF13C	GAS2L2	BCL7B	CCDC103	PRTN3	CFAP300	ALOX12B	CYP4F22	OCRL	HLA-DPA1	SULT2B1	RSPH9	ODAD2	LIPN	CFAP45	HLA-DPB1	TGM1	DNAAF1	TP63	NEK10	ANKRD11	BTK	ODAD3	GNB2	NXN	DNAJB13	PRKCD	SEC24C	RREB1	METTL27	IQSEC2	TBL2	CLIP2	DNAH11	TAP2	IGLL1	GP1BB	GTF2IRD1	NME8	GATA2	MSX1	CD79B	CFAP221	CARMIL2	PTPN22	DNAAF6
HP_THICKENED_HELICES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICKENED_HELICES	RASA2	PBX1	SUPT16H	GDF11	DIS3L2	KRAS	SPOP	RB1	PIGO	RRAS	MRAS	PPP1CB	RIT1	PIGV	MAP2K1	RAF1	TCF4	PIGS	FGFR2	CDH2	SOS1	FBN1	MAP2K2	BRAF	PIGW	PGAP3	SPRED2	DYRK1A	PIGY	SMS	PGAP2	XYLT2	TAF1	NRAS	SOS2	BMP2	PIGL	CBL	RRAS2	EDEM3	ADAMTSL2	LZTR1	PTPN11
HP_LOP_EAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOP_EAR	C12orf57	COL5A1	CHD7	CCNQ	IGBP1	SEMA3E
HP_PROMINENT_ANTIHELIX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_ANTIHELIX	EVC2	FIG4	WAC	RBM10	PGAP1	BICRA	EVC	RECQL4	MGAT2	KAT6A	AP4E1	TOR1A	SLC16A2	TRIO	GLI2
HP_PRELINGUAL_SENSORINEURAL_HEARING_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRELINGUAL_SENSORINEURAL_HEARING_IMPAIRMENT	MARVELD2	HGF	TIMM8A	ATP2B2	GIPC3	GJB2	IARS2	RIPOR2	ADCY1	GJB6	IGF1	CDH23	ESPN
HP_MACROTIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACROTIA	KDM6B	CIT	MLXIPL	NTNG2	MECP2	COLEC10	ZMIZ1	HDAC8	EED	NALCN	KDM4B	CLIC2	TRMT1	TTI2	SMG8	MGAT2	KANSL1	CPE	ITGB6	AIP	GTF2I	SLC6A17	CEP120	EZH2	NCF1	PSMD12	MED13	ZNHIT3	DOCK3	LIMK1	ALDH18A1	LAGE3	GLB1	MED27	EIF4H	TOR1A	CLCN3	PSMB8	CTU2	TBX22	FMR1	SET	KMT2D	MAN1B1	INSR	PIGN	ODC1	TAFAZZIN	FIBP	WDR4	TPRKB	NHS	KCNH1	TBCD	RPL10	FTSJ1	PACS1	PTEN	CASK	ACTL6B	ALKBH8	TNPO2	NECTIN1	TNRC6B	SUZ12	NEXMIF	EIF2S3	EMC10	IDH1	PCLO	SLC12A6	DPYSL5	BRWD3	DDB1	NUP107	ZNF699	ADAMTSL1	RAB3GAP1	AP1S2	TANC2	SMC3	BRAF	ERCC1	PHGDH	AP3D1	PTPN23	TRIP12	KATNB1	CA2	OSGEP	TBL1XR1	DDX6	NAA10	POLR1A	METTL5	RHOBTB2	CHRNA7	BCAS3	AEBP1	FAR1	PPP1R15B	BSCL2	MADD	MAPK8IP3	KCNMA1	AGPAT2	CBL	SHANK3	PALS1	MED13L	WDR73	BCL7B	TBC1D20	NDP	PAX1	TRAPPC9	EYA1	DSE	KDM6A	NBN	FGFR2	FBXW11	WDFY3	ACTL6A	TBC1D23	SHOC2	KCNN3	BPTF	PMM2	TCF20	HERC1	DYRK1A	NDE1	TP53RK	GNB2	JAG1	NARS1	RAB18	BCORL1	RLIM	SLC2A1	PTDSS1	METTL27	TBL2	ERCC4	PTCH1	CHRNA1	CCDC32	GRIA4	AKT1	MYT1L	SMC1A	FLNA	ASNS	HS2ST1	ANKRD17	ALG3	SRCAP	MBTPS1	ADAT3	RAD21	SATB1	LSS	AHSG	NIPBL	ELN	PQBP1	MAP2K1	TMEM270	SNAP29	SLC12A2	MAN2B1	ANKRD11	ERCC8	RFC2	PHF6	RAB3GAP2	MMACHC	SOX6	HTT	QRICH1	UBR7	KMT2E	SSR4	HECW2	TENM3	STEEP1	MGP	PRDX1	NUP133	KDM5C	FKBP6	ZBTB20	BRD4	MPLKIP	STX1A	BMP4	KCNJ1	HPDL	COLEC11	TOE1	PIK3R1	BAZ1B	OPHN1	GLI2	SYNGAP1	CHST14	KRAS	BUD23	ATP6V1A	UBE2A	RMRP	LMBRD2	SLC9A6	DNAJC30	MBTPS2	SLC2A10	ITGA3	SIN3A	TCF7L2	GPR101	MINPP1	PHIP	PUS7	GTF2IRD2	SVBP	SYNCRIP	TRIO	VPS37D	RBMX	SLC16A2	PRUNE1	YME1L1	TAPT1	DENND5A	KIF1A	FDFT1	AGO2	TRPS1	SALL1	PPP1CB	ZIC2	TRMT10A	MASP1	HHAT	ALG9	RNF2	WASF1	MAP2K2	GON7	IPO8	NTNG1	RDH11	PIEZO2	IQSEC2	PGAP1	SPTBN1	ZNF711	CNOT3	NSD1	ERCC6	THOC2	HUWE1	GRIA3	TAF1	PAK3	KAT8	CLIP2	SETD1A	KIFBP	OTUD6B	TRAPPC4	GTF2IRD1	ATP6V1B2	MID2	DPF2	CWC27	JARID2	PYCR2
HP_STENOSIS_OF_THE_EXTERNAL_AUDITORY_CANAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STENOSIS_OF_THE_EXTERNAL_AUDITORY_CANAL	MAF	COL2A1	SLC12A2	POR	HOXA2	FGFR2	GMNN	CPLX1	FGFRL1	MED12	SIX1	HMX1	TBX15	B3GLCT	GNAI3	EDN1	LETM1	PORCN	SOST	EDNRA	CTBP1	NSD2	RPL26	SALL4	EYA1	MAFB	CHN1	SIX5	COL7A1
HP_RECURRENT_OTITIS_MEDIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_OTITIS_MEDIA	HYDIN	ZMYND10	SRY	DRC1	WAS	ZEB2	ICOS	MLXIPL	CCDC40	DLK1	SRCAP	KANSL1	JAK3	IL6ST	DNAAF5	ODAD2	DNAAF2	ZNF341	TTC12	GNPTAB	PSMB8	CFAP298	IGKC	KMT2D	SDCCAG8	USB1	ODAD4	LRRC56	RELB	UBB	GAS8	CD3E	MNS1	TNFRSF13C	RSPH1	DNAAF3	NFKB2	DLG1	OFD1	UNC119	IL17RA	BLNK	DDB1	SPEF2	DNAH1	WDR26	DNAAF1	SH3KBP1	TP63	DNAI1	RSPH3	CFI	MCIDAS	MEG3	TPP2	NECTIN1	PGM1	ARHGAP29	SLC35C1	CFAP300	RAC1	RSPH9	KDM6A	SPAG1	CD3D	ADAT3	GUSB	IL6R	KIF15	CR2	DNAH5	IGHM	ODAD3	RTL1	GNB2	NAA10	IRF6	SLC37A4	MSX1	GAS2L2	DNAJB13	DHCR7	MAPK1	BCOR	CD79A	LRBA	ANAPC1	FLNA	DNAAF6	A2ML1	FGFR3	STK36	CD3G	DNAAF11	ODAD1	BPTF	DNAL1	CCDC39	CCNO	ACP5	MAGT1	LBR	CD19	SMARCA2	DLX4	SMARCD2	CD79B	FOXJ1	MGP	DNAAF4	SETD2	TNRC6B	DNAI2	ELN	RPGR	PCYT1A	RSPH4A	IL2RB	NCKAP1L	DNAH9	FOXP1	RNF2	CCDC65	TCF3	FMR1	BMP4	JAGN1	RAC2	IGHG2	AP3B1	PLCG2	COL2A1	MAP3K7	RNU4ATAC	SYK	PRKCD	IL21R	BTK	TAOK1	CCDC103	HEPHL1	HYAL1	ATN1	TFE3	TNFRSF13B	CFAP52	POLR3A	FCGR3A	NEK10	PSMD12	ADA	RPL11	IDS	DNAH11	GRHL3	IKBKB	ADA2	NME8	DPF2	CD4	CFAP221	CDH1
HP_PROGRESSIVE_SENSORINEURAL_HEARING_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_SENSORINEURAL_HEARING_IMPAIRMENT	ALMS1	MT-TW	MT-TF	MT-CO2	MIR96	GIPC1	NLRP3	MT-TL1	GSDME	GATA3	MYO6	MT-ND5	FGF3	MT-TV	MPZL2	MT-TC	SYNE4	IARS2	WFS1	MT-ND6	MCM2	SCD5	MPZ	NOTCH2NLC	ATP1A3	GJB6	MT-CO3	MT-TS2	POU3F4	ARSG	TPRN	MYO3A	GFER	MT-CO1	OPA1	LARS2	MT-TQ	TIMM8A	GJB2	MT-TK	P2RX2	MT-ND1	ACTG1	MT-CYB	MYH14	GRXCR1
HP_MIXED_HEARING_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MIXED_HEARING_IMPAIRMENT	POU3F4	IGBP1	HOXA2	B3GALT6	MAP3K7	FGFR3	SIX1	GDF6	SGMS2	FGF10	FLNB	FGFR2	GJB2	PORCN	ELMOD3	MAN2B1	CHD7	ABCC6	RPS28	ARSL	CDH11	AFF4	ANKH	PAX1	EYA1	FKBP14	FAM20C	ENPP1	COL11A2	GJA1	AMMECR1	GJB6	FLNA	SEMA3E
HP_PROTRUDING_EAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROTRUDING_EAR	ELN	MLXIPL	RPL10	ALDH18A1	B3GALNT2	CLTC	RB1	KANSL1	COL6A1	FIG4	AP1S2	GTF2I	APC	NCF1	EIF4A3	KCTD1	COL6A2	DAG1	DCAF17	LIMK1	MEGF8	DOCK6	EIF4H	AHDC1	ERCC3	RXYLT1	TTC26	MPLKIP	MAB21L1	GTPBP2	FIBP	DSE	SPOP	WDR19	CCDC32	SRCAP	DLX4	NALCN	ANTXR1	TBX22	OBSL1	GTF2E2	ARX	NECTIN1	LARGE1	FRMD4A	TRPS1	EDEM3	HUWE1	ERCC2	KDSR	NEK1	FOXG1	TBX4	TP63	PLK4	TUBGCP4	POMT1	MBTPS2	KDM5C	PTPN11	PACS1	FKTN	CHRNA7	LMNB1	SLC1A4	POU3F3	SHANK3	BCL7B	FBN1	FLNA	GJB3	TET3	EDNRA	NDP	PAX1	OCRL	EYA1	SPTBN1	KNSTRN	COL4A1	DHX37	COL6A3	FAM20C	TFAP2B	MED12	TASP1	TXNL4A	FGFR1	POMGNT2	EXT1	ZNF407	GTF2H5	ZDHHC9	TARS1	NSUN2	MYH3	IGF2	UPF3B	NHS	METTL27	TBL2	PPP1R12A	ERF	RPS6KA3	DPP6	DYRK1A	PQBP1	CAMTA1	TUBGCP6	ADNP	TPM2	CUL7	KDM6A	CAMK2G	TNNI2	FBXL4	SPEG	RYR1	INSR	TMEM270	RFC2	FMR1	LIG4	BMP1	FKRP	CREBBP	BIN1	BICRA	FKBP6	STX1A	SMPD4	BMP4	SCARF2	TAF1	BAZ1B	CLCNKB	COL3A1	KCNK9	RNF113A	POMGNT1	HNRNPK	SON	CHST14	BUD23	ATP6V1A	POMK	DNAJC30	NR2F1	TRAIP	GJA1	LGI4	GTF2IRD2	CLCF1	NF1	CCDC8	BLM	VPS37D	TUBGCP2	TTN	PRUNE1	KIF11	CRPPA	GJB4	NKAP	KMT2D	PIK3CD	FBLN5	B4GAT1	FN1	MBD5	INTS1	BSND	WNT4	ZNF462	POMT2	COL2A1	ANKRD11	SKI	PYCR1	PIEZO2	B3GLCT	SH3PXD2B	H19	CLIP2	WNT7A	GTF2IRD1	OTUD6B	TNNT3	LRP4	PYCR2	CLCNKA
HP_ATRESIA_OF_THE_EXTERNAL_AUDITORY_CANAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATRESIA_OF_THE_EXTERNAL_AUDITORY_CANAL	ORC1	TWIST2	FKTN	DCHS1	HDAC8	ORC4	CDC6	RAD21	FREM2	GLI3	EFTUD2	TCOF1	NIPBL	DDR2	TBC1D24	GMNN	PAX1	ERBB3	TSHZ1	EYA1	POMT1	RPS26	FRAS1	BRD4	SF3B4	FGFR2	GSC	TP63	SIX1	RPL11	FKRP	GRIP1	POMT2	CDT1	RPL26	HOXA2	SMCHD1	SNRPB	FAT4	CDC45	SMC1A	SIX5	ORC6	ATP6V1B2	SMC3	LARGE1	NOTCH3
HP_BULBOUS_NOSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BULBOUS_NOSE	RERE	CIT	KAT5	COMT	KDM4B	TBCK	BRAF	SMG8	HK1	KANSL1	AP4B1	FREM1	CDC42	TBC1D24	SPRTN	C2CD3	DGCR6	YY1	DOCK6	PYCR2	PIGW	COL11A2	TMEM231	TBX1	KAT6B	SLX4	MMP2	ODC1	MAN1B1	SPOP	ABCC9	DLX4	LMX1B	PACS1	PIGL	ARVCF	COL1A2	CUL4B	UFD1	EDEM3	DOCK7	MYO18B	KDM5B	HUWE1	DDX3X	MPDZ	FOXG1	SC5D	TBX4	TWIST2	WAC	KATNB1	MED12	HIRA	SMARCAL1	EFEMP2	SHANK3	MED13L	PIGV	SLC35C1	AP4S1	CLCN3	SMS	TONSL	SPTBN1	AP4E1	AP4M1	TCF20	TBC1D23	KCNN3	ECEL1	KIF15	SETD5	EXT1	DYRK1A	POR	STXBP1	SCYL2	STAG2	OBSL1	SEC24C	ALDH6A1	EXT2	ESS2	CAMTA1	ATP6V1B2	GJA8	SMC3	ABCA5	AFF3	SPEN	ALG3	CCNQ	DYNC1I2	CUL7	NHEJ1	TRRAP	PQBP1	CCDC47	USP9X	QRICH1	SLC25A46	LTBP3	HECW2	SIM1	PGAP3	CPT2	BICRA	KIFBP	KMT2B	SMPD4	PIGY	CDK19	KCNJ2	RUSC2	PGAP2	TAF1	SNIP1	FMR1	DGCR2	FBN1	ATP6V1A	MRAS	SATB2	ACTL6B	JMJD1C	KCNH1	MTX2	PIGO	ECE1	RBMX	TUBGCP2	UNC80	KCNJ5	MED12L	CCDC8	ZNF292	MBD5	ATN1	INTS1	TRPS1	CLIC2	ZMYM2	GJA5	SMARCD1	ASXL3	MESD	PYCR1	DGCR8	EIF5A	SOX5	RREB1	CEP57	SRD5A3	EXTL3	GP1BB	CEP55	RNU4ATAC
HP_ABNORMALITY_OF_THE_CHOANAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CHOANAE	RERE	FANCM	GAS1	OFD1	COMT	POR	DHCR7	HDAC8	FGFR2	EPCAM	FGF8	SHH	RAD21	FAT4	IGBP1	RAD51	GLI3	NIPBL	NFIX	SRPX2	USP9X	FANCC	TBX1	BRIP1	DHODH	ERF	FGFR3	TDGF1	ZMPSTE24	POLR1C	ANTXR1	FANCF	ERCC4	EFTUD2	SLX4	FANCD2	ZIC2	BRD4	CDH1	DCHS1	SCARF2	IRF6	NODAL	TGIF1	TWIST1	GLIS3	FGFR1	SEMA3E	ARVCF	LMNA	CHD7	TCTN3	POLR1B	ITCH	FOXH1	UFD1	SALL4	PI4KA	CRKL	FANCL	RAD51C	FANCE	MSL3	FRAS1	MBTPS2	TCOF1	SMC3	JMJD1C	FOXE1	SLC12A2	SMC1A	BCR	POLR1A	HIRA	RECQL4	PALB2	UBE2T	NBN	POLR1D	ZNF335	MAD2L2	FANCA	TP63	MED12	PTCH1	SPINT2	PTDSS1	FANCG	FGF10	ASXL3	WAC	FAM20C	RPS26	SIX3	CDC45	TXNL4A	GLI2	CDON	SETBP1	ADGRG1	SUFU	RFWD3	SLC37A4	RPL11	PTH1R	ARID1B	MAPK1	DLL1	BRCA2	XRCC2	WBP11	SEC24C	WNT3	RREB1	SOST	GP1BB	PTPN14	SMCHD1	FANCB	DISP1	BRCA1	CEP55	FANCI
HP_NARROW_NASAL_RIDGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_NASAL_RIDGE	WDR73	NRAS	LMNA	CLCN3	ADAT3	MTX2	PYCR1	COL3A1	SMARCA2	ZMPSTE24	ALDH18A1	CEP55	POLR3A	HRAS	FBN1
HP_ABNORMALITY_OF_THE_NASAL_SEPTUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_NASAL_SEPTUM	IRF6	FLNB	TP63	PAH	EP300	ARSL	CREBBP	MSX1	PTCH1	STING1	NOG	SIX3	ATP6V1B2	NONO	RPS6KA3	UBA1	NECTIN1	NF1	TGIF1	TFAP2A	EXOSC5
HP_EPISTAXIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISTAXIS	PTPN22	ENG	WAS	BCOR	F7	KCNJ5	MYH9	GBA	STAT3	FGA	ITGB3	SMAD4	HLA-B	F2	RARA	BLOC1S5	CTLA4	TERC	F5	TBXA2R	IFNG	LYST	TET2	FGG	FYB1	SBDS	HPS4	SERPINE1	ITGA2B	GFI1B	F13B	CLCN2	SRC	PML	GATA1	FERMT3	VWF	NBEAL2	STAT5B	GDF2	FCGR2C	RUNX1	LMX1B	ATP8B1	HMOX1	GP1BA	FGB	MCFD2	MPL	NABP1	SLFN14	GP1BB	WIPF1	F8	RASA1	LMAN1	HPS6	F10	DTNBP1	HLA-DRB1	NUMA1	P2RY12	SLC37A4	RASGRP2	TERT	EPHB4	PRKAR1A	CYP11B2	CYP11B1	ETV6	PRF1	CACNA1D	HPS1	PRTN3	STIM1	GP6	PRKACG	GGCX	HLA-DPA1	GP9	TBL1XR1	ACVRL1	ACTN1	HLA-DPB1	F13A1	HPS5	IRF2BP2	BLOC1S3	P4HA2	STXBP1	NPM1	FIP1L1	F11	EPOR	JAK2	PLAU	ZBTB16	GIMAP5	MYD88
HP_ABNORMAL_NASAL_BRIDGE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NASAL_BRIDGE_MORPHOLOGY	LMNA	PROM1	OFD1	NTNG2	UNC80	KAT6A	ZEB2	TBCE	EED	CDKN1C	RTTN	TBCK	CLCN4	NDN	RB1	XYLT1	MGAT2	COL1A2	RAC3	GPC3	CKAP2L	AGA	CDC42	BCOR	PEX3	PAX3	HSPG2	SPRTN	EXT2	CEP41	TRIP12	TMEM67	CDH2	SOS1	MED27	EIF4H	HDAC4	TWIST2	FAM149B1	PIGW	RUNX2	IDUA	EXOSC5	CTU2	KATNB1	TTC26	ERCC2	LRP2	PAH	RBM10	GTPBP2	FH	CTSD	FZD2	UMPS	NODAL	SRCAP	RSRC1	TWIST1	BBS5	EBF3	RSPRY1	RAPSN	MYCN	RNF13	NSDHL	CASK	CEP290	CEP19	ESCO2	LRAT	FGFR1	EMC10	DOCK7	TOGARAM1	CRKL	PHF21A	SLC7A14	PCLO	CILK1	MARS2	PCARE	SLC6A9	FRAS1	TG	SNAI2	SMC3	TBX4	TNNI2	CHST3	CLP1	PTPN23	GNRHR	RAC1	BBS7	EDA	GMNN	HGSNAT	B4GALT7	ERCC1	SMARCB1	MEG3	SMARCAL1	GLI3	RARB	CPLX1	FREM2	FREM1	POLR1D	EFEMP2	NALCN	SHANK3	MED13L	COG4	PTCH1	PEX6	SMARCA4	RPL27	SMC1A	SLC2A1	TONSL	WNT7A	SPTBN1	KNSTRN	HRAS	AP4E1	KDM6A	FBXW11	WDFY3	PIK3C2A	TCF20	FAM20C	BRAF	KREMEN1	RPL35A	RAI1	PDGFRB	GJA1	SMOC1	DYNC2I1	RPS26	NIPBL	CD96	EDARADD	FLNA	TTC37	PEX12	IFT81	NSMF	KCNA1	TMEM94	PDE4D	SCYL2	ZNF711	SMS	ARID1B	RPS15A	CRX	ZSWIM6	JAG1	HYOU1	CSPP1	SEMA5A	BCORL1	RLIM	ZDHHC9	SUFU	METTL27	KCNN3	NPAP1	ALDH6A1	GALNT2	DHCR7	CREBBP	ARL6	RAB3GAP2	PIGN	USP9X	DYRK1A	DISP1	PEX11B	MYT1L	HBB	PEX16	GUCA1B	FAR1	PKDCC	PBX1	IDS	SPEN	CERKL	RPL15	ADAT3	RP1L1	PIK3CD	LONP1	RTL1	KAT6B	RAD21	EEF1A2	TRIM32	PRKD1	FGFR2	LEMD3	ELN	RAB3GAP1	VPS13B	TENT5A	SNRPN	TBX1	KCNH1	PEX13	VARS1	DNMT3B	LIG4	LBR	INPP5E	COG8	FGFR3	KMT2E	KIT	ADAMTS3	UBE3B	MGP	RIPPLY2	ACY1	PEX26	FKBP6	PAM16	PIGB	CEP104	BRD4	HPDL	AGBL5	DCAF17	SMARCD1	SPATA5	GLIS3	HELLS	CSGALNACT1	MKKS	GLI2	KCNK9	B4GALT1	MITF	ZBTB18	MAGEL2	WDR19	BUD23	ATP6V1A	WDR37	PMM2	SATB2	PRCD	DNAJC30	TFAP2A	TCF7L2	RNU4ATAC	PNKP	PUS7	TLK2	SPATA5L1	FLI1	PEX14	IGBP1	GNE	SYNCRIP	GNAS	SCN1B	SOX9	VPS37D	DEAF1	ALX4	KIF11	CRLF1	TAPT1	IARS2	FDFT1	AGO2	DHDDS	ARL2BP	IGF1R	RPS19	GBA	ZIC2	TCF4	HYAL1	PIK3R1	MKS1	PIGT	SLC26A2	TFE3	EIF2AK3	SNORD115-1	PIGU	TRAPPC9	ACAN	TMEM138	KISS1	EP300	PGAP1	DVL3	SETD5	PSAT1	SHH	MAPRE2	YARS1	USP27X	AHI1	ORC6	NDUFB11	HNRNPK	SOX5	STX16	KAT8	KCNE5	SEMA4A	SETD1A	ZNF81	ETFA	ACTB	PEX5	NAGA	KIAA0753	MECP2	RPS6KA3	COX4I1	TRIP11	PORCN	TNNT3	PRPF31	SVBP	STAG1	MYOD1	PARS2	TCTN2	CANT1	KDM6B	PIGG	GAS1	SUPT16H	HDAC8	RALA	KRAS	ATP6V1B2	AKT3	KDM4B	FLNB	PURA	PRPF3	BCAS3	FGF17	MTOR	XRCC4	ETFDH	PIEZO2	TSHB	IFT140	ZBTB24	EBP	AFF2	AIFM1	CTBP1	CHD2	RYR1	MEGF8	RP1	GLB1	ACTG1	COL11A2	CC2D2A	NUP188	ANTXR1	PRKAR1A	ZMIZ1	FGD1	MAN1B1	TMEM216	INSR	ALG12	TRMT1	PEX7	TBC1D24	RPS28	PRKCZ	DCHS1	CENPF	AMER1	CPLANE1	UGP2	CDKL5	RPL35	AP4B1	SEMA3E	MESP2	PIGL	TNPO2	ABCC9	RPL5	SCUBE3	NECTIN1	TNRC6B	WDR11	NEXMIF	ACTG2	CUL4B	UFD1	EDEM3	CCBE1	DDX3X	GHR	ADAMTSL1	ARID2	BPNT2	ADNP	IFT88	FGF3	FAM161A	GPX4	RALGAPA1	DIS3L2	KLHL7	LHX4	TFAP2B	HIRA	CRIPT	KCNAB2	PDE6A	INPPL1	PIGQ	SF3B4	DMD	CBL	COG1	DHX38	EDNRA	WASHC5	SYNGAP1	PEX19	FBN1	ACSL4	ACTL6A	ROM1	PIK3R2	SLC39A13	ARX	PITX1	NF1	CUL7	RDH12	SHOX	HERC1	SOST	B9D1	PDPN	MAP3K7	PRPF6	ERCC6	NSUN2	TSPAN7	DUOXA2	RAF1	MAPK1	MED12	SEC24C	CDCA7	HIVEP2	FOXC1	TRIM37	LTBP4	SNRNP200	HS2ST1	ANKRD17	TUBGCP6	MYH3	PEX1	EXOSC1	ALG3	POR	IL1RAPL1	GAD1	POGZ	SIX2	G6PC3	SATB1	KIAA0586	MAP2K1	ZNF423	SNAP29	BPTF	GATAD2B	PQBP1	NMNAT1	KMT2A	TDGF1	GPC6	LZTFL1	RBP3	KATNIP	PGAP3	MRPS14	TALDO1	ANKH	KIFBP	PRPH2	SAG	RPL10	TUBB	PIGY	KIAA1109	HBA2	KIF7	TRPV4	TAF1	BAZ1B	RNF2	RHO	FGF8	SMO	MAN2B1	SCAPER	ANKRD11	MIR140	KPTN	BEST1	HS6ST1	AP4S1	EDNRB	MERTK	MRAS	BBS10	UBE2A	RMRP	PRKG2	COL11A1	SNX14	SIN3A	ATP6V0A2	SHROOM4	PROK2	TCTN3	CCDC22	SEC23A	RPGRIP1L	ZNF513	PDE6D	HYLS1	FOXL2	DUOX2	KCNJ8	HERC2	HESX1	RP9	BBIP1	FSCN2	GLUL	TTC8	STRA6	SOX11	TAOK1	DLK1	PEX2	BBS2	MED12L	WDPCP	ARL3	SOX10	ZNF292	ASXL3	UPF3B	INTS1	WASF1	PTEN	RELN	SLC35C1	CLRN1	TMEM231	GPC4	ZMYM2	RPL31	EDAR	CTNND2	FOXG1	SETBP1	MUSK	PTCHD1	TULP1	SON	RPS29	TXNL4A	CRB1	SLC5A5	TSR2	TOE1	MDH1	RREB1	IQSEC2	CLIP2	MN1	EXTL3	TMEM237	SH3PXD2B	GTF2IRD1	OTUD6B	DVL1	SPECC1L	TRIO	HCFC1	SMAD4	CHD3	TGFB3	COMT	CEP120	RPS7	GATA1	SKIV2L	PDHA1	KANSL1	DPM1	FRMPD4	KIZ	AMMECR1	PREPL	GTF2I	NEK2	SCN2A	NCF1	LMNB1	ROR2	DOCK3	MAPK8IP3	KDM1A	DOCK6	RPS23	TOR1A	AHDC1	NELFA	POLR1C	RPL18	AP2M1	HCCS	SDCCAG8	SET	INTU	IMPG1	PITX2	COL2A1	MMP2	IFT27	LETM1	NHS	DDR2	CHD7	FTSJ1	IFT74	FBXO31	BRPF1	OBSL1	ACTL6B	POMGNT1	SALL4	MADD	COLEC11	DPYSL5	TBX6	PTCH2	NEK1	ERF	GNAO1	DUSP6	REEP6	MID1	PLK4	TUBGCP4	SLC25A24	PACS2	LRPPRC	KDM5C	WAC	DICER1	FUT8	RHOBTB2	RECQL4	EFNB1	SLC1A4	WDR35	STRADA	ZNF335	KCNMA1	LARP7	ARHGEF6	ABCA4	BCL7B	SMG9	ARID1A	SLC3A1	NDP	BRCA1	IYD	TMEM107	MKRN3	RPS10	SIX3	BMPR1B	SPATA7	WDR26	TASP1	NEPRO	CDON	TOPORS	UQCC2	ARSL	NDE1	NPHP1	PPM1B	ATRX	AUTS2	AGL	PIGV	PRDM16	FANCL	RAB18	SMARCE1	NXN	POU1F1	HOXB1	IFT52	NSD2	BRF1	SLC45A1	CCDC32	FAT4	CDK13	AKT1	ALG9	TGIF1	PRMT7	HBA1	EDN3	CNGB1	CCNQ	TPM2	TACR3	ASXL1	FBXL3	COL1A1	PEX10	RERE	KCNJ6	ZNF408	KYNU	CA4	TRRAP	SMARCA2	SLC6A1	SLC12A2	RFC2	PDE6G	UBR7	DLG3	SIM1	BUB1B	BICRA	DOK7	SMPD4	IRX5	GRIA4	IMPG2	RGR	ADGRG6	KCNJ2	CDHR1	PGAP2	ETFB	AP3B1	SIK1	FOXH1	TBC1D20	RAB39B	NONO	CDK10	EYS	LTBP3	GRM7	PRPF8	NR2F1	TCOF1	NFASC	PCNT	DLL3	DMXL2	BMPR1A	TP63	FLII	RPS24	KISS1R	ARHGEF18	CCND2	SPOP	AGTR2	ECE1	MAF	WNT5A	ADA2	TUB	SOX18	NUP88	ADAMTS2	SEPTIN9	COG5	DHCR24	IFT172	PDE6B	CFAP418	SCN1A	LINS1	ARL13B	PEPD	NTNG1	CLIC2	TAC3	ARSB	COX7B	B3GLCT	NAA10	PIGO	PSMD12	ACOX1	CNOT3	MDM2	DYNC2H1	TBX2	PRKDC	GRIP1	CEP57	SRD5A3	TRPS1	GP1BB	PAK3	SNORD116-1	NFIX	GNPTAB	KAT5	MLXIPL	PLOD1	USH2A	NEUROD2	NRAS	CNOT1	GPRASP2	ZNF41	KCTD1	MED13	RARS2	NR2E3	GDI1	RP2	LIMK1	SPRY4	NPR2	CAMKMT	NFIB	CLCN3	RPS17	HMGA2	IMPDH1	PUF60	PROP1	HSD17B4	BBS9	KMT2D	PIBF1	CEP152	UBE4B	TCTN1	BMP2	ARVCF	KIF14	SLC9A7	AHR	CDH11	NOTCH2	ALX3	KDM5B	SH2B1	HUWE1	VPS33A	SLC12A6	CNKSR2	TAF6	RPS27	DDB1	ZNF699	TANC2	NSMCE3	STAT3	IDH3B	SLC35A2	SC5D	SOX4	DDX6	NOTCH3	LHX3	SMARCC2	GNPAT	CACNA1C	RPS20	PALS1	PAX1	EYA1	LFNG	NBN	SP7	MYMK	DHPS	VANGL2	MMP23B	SYP	MIA3	ATAD3A	PTH1R	PIK3CA	RPE65	EXT1	GNB2	NRL	IDH3A	MEF2C	STAG2	PROKR2	COL27A1	TBL2	IFT57	PWAR1	MAFB	CHN1	EXOC2	TRIM8	B3GALT6	ALX1	FGFRL1	GNS	ADAMTS10	BBS12	ANK1	CCNK	OPHN1	DPYD	DPH1	TMEM270	DYNC2LI1	BBS4	BBS1	PUM1	RIPK4	GDF5	DPF2	SOX6	DYNC2I2	HTT	SUMF1	HECW2	CBY1	B3GAT3	MID2	STX1A	PTPN11	SCARF2	MAK	PLCB3	KIAA1549	COL18A1	RAB23	COL3A1	RPGR	RPL11	MEIS2	CASZ1	NEU1	POLR1B	ADAMTSL2	CNGA1	MTHFR	ALG13	ERCC5	GNRH1	SLC18A3	LMBRD2	RPL26	TMEM70	STEEP1	GATA4	MINPP1	P4HTM	JMJD1C	IFT122	BCR	GTF2IRD2	MTX2	RHOA	ARMC9	WARS2	KCNJ5	LUZP1	TPO	HES7	PWRN1	MAP2K2	BMPER	IPO8	POLE	EZH2	CSNK2A1	POLR1A	PIGA	GABRD	SKI	PRPF4	ATIC	IFT80	DLL1	PPP1R21	RLBP1	PIGP	WDR4	TRAPPC4	SLC25A22	ATPAF2	METTL23	ALG2	JARID2
HP_PROMINENT_NASAL_BRIDGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_NASAL_BRIDGE	SMAD4	TGFB3	COMT	UNC80	KAT6A	TMEM237	CEP120	RTTN	MKS1	TBCK	IGBP1	RB1	MGAT2	KANSL1	XRCC4	CKAP2L	IFT172	BCOR	EBP	HSPG2	AFF2	LMNB1	SPRTN	EXT2	RARS2	CEP41	MAPK8IP3	SPECC1L	TMEM67	FGFR2	FAM149B1	CC2D2A	PIGW	PAX3	AHI1	HMGA2	EXOSC5	SATB2	SDCCAG8	ZMIZ1	TBX1	BBS9	IFT27	INSR	ALG12	PIBF1	CENPF	INPP5E	CPLANE1	SPOP	TWIST1	BBS5	NHS	EBF3	CEP152	TCTN1	IFT74	NSDHL	PIGL	ARVCF	TNPO2	SCUBE3	CEP290	NEXMIF	CEP19	ACTG2	UFD1	TMEM216	DOCK7	KDM5B	SH2B1	CRKL	PHF21A	COLEC11	TAF6	ZNF699	MED13	RAC1	BBS7	NONO	KDM5C	NALCN	HIRA	RECQL4	ZNF335	SOX10	SF3B4	PIGV	SMC1A	MECP2	SMS	BRCA1	ERCC6	NBN	DHPS	MIA3	MED12	TXNL4A	TOPORS	HERC1	UPF3B	B9D1	NDE1	NPHP1	HDAC8	PDGFRB	MAPK1	KIAA0586	SEC24C	ZDHHC9	ALX4	GALNT2	HIVEP2	IFT57	DYRK1A	EDN3	FBN1	SMC3	SPEN	GPC4	KAT6B	TRIM32	PRKD1	BBS12	LEMD3	NSUN2	TRRAP	STAG1	VPS13B	ZNF423	SNAP29	BBS4	MITF	BBS1	OFD1	LZTFL1	KATNIP	CBY1	PGAP3	BICRA	KIFBP	KIAA0753	CEP104	CASK	KIF7	DCAF17	PGAP2	FGFR3	MKKS	MEIS2	SCAPER	ANKRD11	TBC1D20	EDNRB	WDR37	BBS10	PMM2	NR2F1	GATA4	SIN3A	NFASC	JMJD1C	TLK2	BCR	TCTN3	KAT8	TP63	RPGRIP1L	SEC23A	PDE6D	ARL6	HYLS1	ARMC9	PIGO	ECE1	BBIP1	SUFU	SOX18	BBS2	TCF4	MED12L	ARX	WDPCP	ARL3	ASXL3	CFAP418	CSPP1	TTC8	RAB3GAP2	IPO8	ARL13B	TMEM231	CLIC2	TMEM138	POLR1A	RLIM	ERCC1	ATIC	PIGY	PAK3	ORC6	RREB1	PCNT	OTUD6B	RELN	GP1BB	COX4I1	ATPAF2	TCTN2
HP_ABNORMALITY_OF_THE_NASAL_ALAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_NASAL_ALAE	RERE	PROM1	OFD1	UNC80	KAT6A	TBCK	CLCN4	XYLT1	RAC3	GPC3	DOCK7	CKAP2L	CDC42	SUMF1	EXT2	CEP41	TMEM67	HDAC4	FAM149B1	TTC26	RPS6KA3	MAB21L1	PAH	RBM10	FH	PRMT7	NODAL	TWIST1	EBF3	MYCN	BRCC3	PTEN	ESCO2	LRAT	TOGARAM1	CRKL	PHF21A	SLC7A14	MARS2	PCARE	SLC6A9	FRAS1	SC5D	SMC3	CLP1	RAC1	EHMT1	KATNB1	EDA	SNX14	GMNN	HGSNAT	NAA10	SMARCB1	MEG3	RARB	FREM2	ATP6V1A	NALCN	PHF8	SKI	PTCH1	PEX6	SMARCA4	SMC1A	SLC2A1	TONSL	SPTBN1	KNSTRN	HRAS	DHX37	PIK3C2A	RAB3GAP1	ECEL1	NIPBL	CD96	TBX1	KCNA1	TMEM94	ZNF711	SMS	ARID1B	WDR35	CRX	KCNN3	KATNIP	DHCR7	ARL6	TRIP11	COL11A2	PIGN	USP9X	DISP1	PEX11B	FTO	ESS2	FIG4	GUCA1B	ABCA5	PBX1	SPEN	CERKL	DYNC1I2	RP1L1	LONP1	RTL1	RAD21	GLI3	PEX13	INPP5E	QRICH1	UBE3B	MGP	RIPPLY2	PAM16	CEP104	BRD4	AGBL5	SMARCD1	SPATA5	CSGALNACT1	FGFR3	PEX16	RAI1	KCNK9	DGCR2	PDE4D	FBN1	MICU1	MITF	LMBR1	PMM2	MSL3	PRCD	TFAP2A	RNU4ATAC	PHIP	PNKP	TLK2	HDAC8	CLCF1	FLI1	SCN1B	POC1A	DEAF1	KIF11	CRLF1	TAPT1	DHDDS	ARL2BP	CCNQ	PPP1CB	FGFR1	GBA	ZIC2	TCF4	NOG	CCDC8	MKS1	PIGT	MED27	CSPP1	FRMD4A	NFIA	TMEM138	DVL3	KDM3B	SETD5	DOCK3	SHH	YWHAE	USP27X	TAF1	PIGQ	AHI1	HNRNPK	PAX3	KCNE5	SEMA4A	ZNF81	ACTB	PEX5	MECP2	AFF4	KCNJ11	PRPF31	PYCR2	EXOSC2	TWIST2	PARS2	TCTN2	APC	GAS1	SUPT16H	RALA	KRAS	ATP6V1B2	KDM4B	PURA	PRPF3	IFT122	RIPK4	NOVA2	SNRPN	SMOC1	IFT140	CTCF	AIFM1	SMARCAL1	CHD2	MEGF8	RP1	GLB1	CC2D2A	UBR1	ANTXR1	PRKAR1A	FGD1	INSR	TBC1D24	VPS51	CPLANE1	CDKL5	IDUA	PTPRF	GPAA1	MESP2	CERT1	ABCC9	PPP2R1A	NEXMIF	ACTG2	HPDL	EDEM3	DDX3X	ARID2	BRAF	ADNP	IFT88	FGF3	FAM161A	XPA	RALGAPA1	DIS3L2	CRIPT	PDE6A	PPP1R15B	INPPL1	DMD	KLHL7	DHX38	ATP6V1E1	SYNGAP1	COG1	PEX19	ACSL4	FGFR2	ROM1	ARX	CUL7	RDH12	SETBP1	B9D1	MAP3K7	PRPF6	TSPAN7	MAPK1	MED12	ERCC4	ALX4	XPC	SNRNP200	TUBGCP6	MYH3	EXOSC1	IL1RAPL1	GAD1	POGZ	SIX2	TMEM216	KDM6A	DDB2	MAP2K1	ZNF423	ANKRD11	GATAD2B	RAB3GAP2	TDGF1	OCLN	RBP3	EFTUD2	CNOT3	CREBBP	PRPH2	SAG	MPLKIP	SATB2	PIGY	ASXL2	KIAA1109	KIF7	ALG13	RNF2	RHO	NOTCH2	MIR140	BEST1	EDNRB	MERTK	UBE2A	RMRP	COL11A1	SIN3A	TCTN3	RPGRIP1L	ZNF513	PDE6D	HYLS1	SEC23A	KCNJ8	RP9	FSCN2	GLUL	TTC8	SOX11	SUFU	DLK1	ERCC3	MED12L	ARL3	SOX10	ZNF292	ASXL3	ALG9	UPF3B	ADSL	CLRN1	TMEM231	GPC4	ZMYM2	TTC37	PTCHD1	PEX12	TULP1	CRB1	DGCR8	ERCC2	IQSEC2	MN1	EXTL3	ADAMTS3	SH3PXD2B	RBM8A	DVL1	CEP55	TRIO	HCFC1	KLHL15	ADAMTSL2	CWC27	TMEM237	CEP120	PDHA1	HK1	KANSL1	KCNJ6	KIZ	AMMECR1	NEK2	SCN2A	ARSL	ROR2	ZNHIT3	MAPK8IP3	KDM1A	RYR1	ZBTB24	TOR1A	AP2M1	IMPG1	CANT1	SLC29A3	OBSL1	POMGNT1	PEX14	NFIX	LRP2	EIF2S3	SALL4	MADD	MYO18B	PAFAH1B1	SLC26A2	TBX6	NACC1	ERF	GNAO1	REEP6	MID1	PLK4	ZSWIM6	TUBGCP4	LRPPRC	WAC	RECQL4	AIMP2	WDR4	ARHGEF6	ABCA4	SMG9	ARID1A	PPM1D	BRCA1	PEX1	NF1	SIX3	TFAP2B	SPATA7	WDR26	CDON	SLC17A5	TOPORS	GJA1	BPTF	MED25	NPHP1	ATRX	AUTS2	AGL	PIGV	RAB18	SMARCE1	NXN	KIAA0586	HOXB1	BBS2	BRF1	TBL1XR1	AKT1	CAMTA1	EDN3	CNGB1	ANKRD17	KIAA0753	PIGF	ASXL1	ZNF408	NSUN2	CA4	TRRAP	SMARCA2	DDR2	SLC6A1	KCNH1	PDE6G	SLC25A46	LTBP3	DLG3	SIM1	BUB1B	BICRA	ELN	MYMK	COL2A1	IRX5	IMPG2	RGR	CASK	ADGRG6	ERCC5	CDHR1	TGIF1	SMARCC2	PIK3R1	FOXP1	MEF2C	SCAPER	FRMPD4	SIK1	FOXH1	TBC1D20	RAB39B	CDK10	EYS	GRM7	PRPF8	NR2F1	PCNT	DLL3	DMXL2	FLII	HNRNPH2	ARHGEF18	AGTR2	PLOD3	WNT5A	PEX26	KIF1A	TUB	PIK3CD	IFT172	PDE6B	SCN1A	ZNF462	ARL13B	GLI2	RDH11	B3GLCT	PIGO	ATP6V0A2	CFAP418	TBX2	GRIP1	TRPS1	CENPJ	PAK3	COG6	BCOR	GDF11	VPS35L	MLXIPL	USH2A	PGAP3	NEUROD2	XRCC4	FLNB	MCTP2	PRPS1	ZNF41	KCTD1	NR2E3	GDI1	RP2	DGCR6	FTSJ1	CNOT2	NFIB	GNPTAB	IMPDH1	VAC14	PUF60	IER3IP1	PIBF1	FAM20C	SPOP	TCTN1	KIF14	SLC9A7	AHR	CDH11	PGAP2	ALX3	HUWE1	RNF125	CNKSR2	TAF6	DDB1	ZNF699	CTNNB1	IDH3B	TP63	FZD2	SOX4	METTL5	CEP290	GNPAT	BMP2	POU1F1	PAX1	EYA1	LFNG	SHOC2	GPC6	KPTN	SYP	KIF15	ATAD3A	PTH1R	RPE65	TXNL4A	NRAS	EXT1	AGA	NRL	ABCC8	SLC37A4	PEX2	IDH3A	WDR19	LAS1L	PORCN	MAFB	RIC1	CHN1	IFT43	TRIM8	MVK	B3GALT6	ALX1	FGF8	GNS	IGF1R	CCNK	DYRK1A	DPYD	PPP2CA	DPF2	HECW2	CBY1	RNF135	ZBTB20	MID2	SCARF2	ADAMTS18	MAK	PLCB3	KIAA1549	SRCAP	RPGR	HS2ST1	CNGA1	TMEM70	HIC1	STEEP1	DHCR24	PIEZO2	PLEC	NGLY1	BCR	MTX2	RHOA	ARMC9	PPP2R3C	HES7	TRMT10A	SETD1A	IFT52	MAP2K2	PEX10	ZC4H2	POLR3A	CSNK2A1	PIGA	PRPF4	ATIC	DLL1	PPP1R21	EIF5A	RLBP1	PIGP	DNMT3B	ORC4	SLC25A22	PEX3
HP_UNDERDEVELOPED_NASAL_ALAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNDERDEVELOPED_NASAL_ALAE	MYH3	OFD1	MVK	ALX1	ALX4	ATP6V1B2	KCNJ6	RIPK4	TWIST2	KANSL1	ESCO2	DYRK1A	NSUN2	CKAP2L	DDR2	FLNB	PRPS1	LMBR1	ANKRD11	EXT2	MITF	DGCR6	PAX3	HNRNPK	HDAC4	FRAS1	UBR1	CREBBP	BICRA	SCARF2	TWIST1	SPATA5	PIK3R1	DGCR2	NOG	CLP1	NEXMIF	TRPS1	EDNRB	EDEM3	MADD	MYO18B	CRKL	PHF21A	UBE2A	TAF6	DDB1	CTNNB1	SIN3A	PCNT	RNU4ATAC	PLEC	FGF3	BCR	TP63	MGP	EDA	GMNN	MTX2	HNRNPH2	NAA10	RECQL4	FREM2	SOX10	PPP1CB	NALCN	SOX11	PPP2R3C	GJA1	SMARCA2	ASXL3	ALG9	TXNL4A	RDH11	TBX1	SLC37A4	MAPK1	DGCR8	EIF5A	PURA	GRIP1	ORC4	CENPJ	NFIX	TRIO	ESS2	CWC27	EDN3
HP_WIDE_NASAL_BRIDGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDE_NASAL_BRIDGE	LMNA	CHD3	PROM1	OFD1	NTNG2	COMT	UNC80	ZMIZ1	ZEB2	EED	RTTN	TRMT1	RPS7	GATA1	SKIV2L	RB1	PDHA1	KANSL1	RAC3	GPC3	ABCC9	FRMPD4	CKAP2L	AGA	CDC42	KIZ	GTF2I	NEK2	ACTB	PEX3	NCF1	LMNB1	ROR2	DOCK3	FOXL2	KDM1A	MED27	EIF4H	PEX19	TOR1A	TWIST2	PIGW	NELFA	POLR1C	RPL18	PAX3	AMER1	AP2M1	HCCS	KATNB1	GPC4	SET	IMPG1	PITX2	ERCC2	PAH	RBM10	LETM1	MAN1B1	CTSD	UMPS	SRCAP	RSRC1	TWIST1	HSPG2	RAPSN	MYCN	FBXO31	BRPF1	CASK	ACTL6B	POMGNT1	PEX14	ESCO2	LRAT	SALL4	EMC10	TOGARAM1	COLEC11	SLC7A14	CILK1	MARS2	PCARE	DPYSL5	TBX6	FRAS1	PTCH2	DVL3	NEK1	SNAI2	REEP6	TNNI2	MID1	PLK4	ZSWIM6	TUBGCP4	CLP1	PTPN23	PACS2	LRPPRC	TRIP12	WAC	TBCK	NALCN	HGSNAT	B4GALT7	FUT8	ERCC1	GLI3	EFNB1	RARB	SLC1A4	CPLX1	FREM2	WDR35	MAPK8IP3	FREM1	STRADA	POLR1D	SOX10	KCNMA1	LARP7	SHANK3	ABCA4	BCL7B	SMG9	PEX6	RPL27	SLC2A1	WNT7A	SPTBN1	KNSTRN	AP4E1	PEX1	KDM6A	TCF4	FBXW11	WDFY3	PIK3C2A	KREMEN1	RPL35A	RAI1	PDGFRB	BPTF	RPS10	GJA1	SPATA7	TCF20	RPS26	TASP1	CD96	TTC37	PEX12	FLNA	MED12	TMEM94	ATRX	AUTS2	FGFR1	PIGV	PRDM16	RPS15A	CRX	FANCL	HYOU1	RAB18	SEMA5A	BCORL1	NXN	RLIM	METTL27	KCNN3	IFT52	DHCR7	BBS2	DIS3L2	NSD2	CREBBP	BRF1	ARL6	PIGN	CCDC32	FAT4	DVL1	CDK13	PEX11B	NEXMIF	MYT1L	PRMT7	PEX16	HBA1	EDN3	GUCA1B	ATP6V1B2	PKDCC	CNGB1	PBX1	KIAA0753	IDS	SPEN	FGD1	CCNQ	CERKL	RPL15	TPM2	RP1L1	ASXL1	FBXL3	PIK3CD	PEX10	RERE	ZNF408	NSUN2	CA4	TRRAP	ELN	RAB3GAP1	USP9X	TENT5A	TBX1	SLC6A1	SLC12A2	KCNH1	RFC2	PEX13	PDE6G	LIG4	UBR7	KMT2E	KIT	ADAMTS3	ACY1	PEX26	FKBP6	PIGB	IRX5	GRIA4	IMPG2	RGR	HPDL	AGBL5	KCNJ2	CDHR1	TOE1	PGAP2	PIK3R1	B4GALT1	SON	SCAPER	AP3B1	MITF	CTBP1	WDR19	BUD23	ATP6V1A	MYH3	CDK10	PRCD	EYS	DNAJC30	LTBP3	PRPF8	TFAP2A	TCOF1	NFASC	TCF7L2	PCNT	KIF7	PUS7	FLI1	TP63	COL11A1	FLII	GNE	RPS24	ARHGEF18	SYNCRIP	PIGL	VPS37D	MAF	DEAF1	WNT5A	TAPT1	PTCH1	ADA2	TUB	AGO2	SOX18	DHDDS	ARL2BP	IGF1R	RPS19	ARX	COG5	IFT172	SMARCA2	PDE6B	SCN1A	RNF2	KIF11	TRAPPC9	NTNG1	EP300	COX7B	NAA10	PIGO	SETD5	PSMD12	ACOX1	CNOT3	DLK1	YARS1	AHI1	NDUFB11	HNRNPK	CFAP418	PURA	SOX5	PRKDC	GRIP1	KAT8	SEMA4A	SETD1A	SRD5A3	PEX5	TRPS1	KMT2A	GP1BB	PQBP1	TNNT3	PRPF31	SVBP	NDE1	PARS2	KDM6B	PIGG	MLXIPL	SUFU	SUPT16H	RALA	RAD21	KDM4B	USH2A	PRPF3	PGAP3	BCAS3	XRCC4	NRAS	PIEZO2	BRAF	GPRASP2	IFT140	TBC1D24	MED13	NR2E3	CHD2	RP2	RYR1	SPECC1L	LIMK1	MEGF8	RP1	ACTG1	CLCN3	NUP188	RPS17	IMPDH1	PUF60	KMT2D	RPS28	PRKCZ	DCHS1	CENPF	RPL35	IDUA	AP4B1	UBE4B	BMP2	ARVCF	TNPO2	KIF14	RPL5	NECTIN1	TNRC6B	AHR	NOTCH2	UFD1	EDEM3	ALX3	VPS33A	CCBE1	SLC12A6	DDX3X	RPS27	ADAMTSL1	TANC2	BPNT2	PIGT	ADNP	IFT88	FGF3	STAT3	IDH3B	SLC35A2	FAM161A	SC5D	FZD2	DDX6	HIRA	KCNAB2	MKS1	PDE6A	GNPAT	MADD	RPS20	KLHL7	PALS1	COG1	DHX38	EDNRA	WASHC5	SYNGAP1	TBC1D20	MECP2	FBN1	ACTL6A	ROM1	MMP23B	ATAD3A	RPE65	RDH12	SHOX	EXT1	SOST	PDPN	MAP3K7	PRPF6	ERCC6	RAF1	NRL	PEX2	IDH3A	STAG2	SEC24C	COL27A1	TBL2	MAPK1	HIVEP2	IFT57	FOXC1	TRIM37	LTBP4	TOPORS	MAFB	CHN1	SNRNP200	HS2ST1	ANKRD17	EXOC2	PDE4D	TUBGCP6	RTL1	ALG3	GAD1	ALX1	FGFRL1	G6PC3	CCNK	SATB1	OPHN1	TMEM270	FLNB	GATAD2B	PUM1	RAB3GAP2	PAX1	SOX6	HTT	GPC6	RBP3	ANKH	KIFBP	PRPH2	SAG	RPL10	STX1A	PTPN11	MAK	KIAA1549	HBA2	BAZ1B	MEG3	RPGR	ARL3	RHO	RPL11	CASZ1	NEU1	POLR1B	KPTN	BEST1	CNGA1	AP4S1	EDNRB	MERTK	ERCC5	RMRP	LMBRD2	RPL26	TMEM70	ARID1B	PRKG2	KRAS	SNX14	GATA4	SIN3A	MINPP1	ATP6V0A2	JMJD1C	IFT122	GTF2IRD2	CCDC22	ZNF513	MED13L	RHOA	SEC23A	KCNJ8	RP9	WARS2	SNAP29	FSCN2	GLUL	TTC8	STRA6	KCNJ5	LUZP1	ALX4	ASXL3	INTS1	WASF1	RELN	SLC35C1	CLRN1	ZMYM2	RPL31	CTNND2	CSNK2A1	POLR1A	CDH11	TULP1	GABRD	SKI	PRPF4	RPS29	HUWE1	PIGY	TXNL4A	CRB1	SH3PXD2B	TSR2	PPP1R21	RLBP1	RREB1	IQSEC2	CLIP2	PRKAR1A	TRAPPC4	GTF2IRD1	ALG2	OTUD6B	JARID2
HP_ABNORMAL_NASAL_MUCOSA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NASAL_MUCOSA_MORPHOLOGY	HYDIN	TGFB1	DNAAF3	ENG	ZMYND10	STK11	PTGER2	DRC1	DNAI1	CCDC40	FCGR2A	RSPH3	MCIDAS	ODAD4	DNAH5	TBX21	STK36	DNAAF11	GAS2L2	CCDC103	CFAP300	DNAAF2	SPAG1	ODAD1	DNAL1	TTC12	CCDC39	BTNL2	CCNO	RSPH9	TAP1	ODAD2	CFAP298	DNAAF1	FOXJ1	NEK10	DNAAF4	ODAD3	DNAAF5	LRRC56	GAS8	RPGR	RSPH4A	RSPH1	DNAH9	CCDC65	ACVRL1	DNAJB13	OFD1	TAPBP	DNAH11	UNC119	TAP2	HLA-DRB1	NME8	DNAI2	ECM1	CFAP221	SPEF2	DNAH1	DNAAF6	CFTR
HP_ABNORMALITY_OF_THE_NASAL_TIP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_NASAL_TIP	RERE	TGFB3	COMT	KAT6A	PRKACB	ZEB2	FLCN	TBCK	CLCN4	BRAF	SMG8	HK1	KANSL1	FRMPD4	DOCK7	AP4B1	FREM1	CDC42	BCOR	ACTB	ARSL	SPRTN	EXT2	RYR1	YY1	DOCK6	PYCR2	FAM149B1	PIGW	RPS6KA3	MMP2	ODC1	MAN1B1	FZD2	ZMPSTE24	EBF3	SMARCA4	MYCN	PACS1	OBSL1	COL1A2	LRP2	EIF2S3	MYO18B	PHF21A	COLEC11	LMNA	CILK1	NACC1	FOXG1	SC5D	TBX4	ZSWIM6	WAC	KATNB1	SMARCB1	SMARCAL1	RARB	EFEMP2	ATP6V1A	PHF8	SHANK3	MED13L	ARHGEF6	SLC35C1	AP4S1	CLCN3	LMBR1	ARID1A	IQSEC2	TONSL	SPTBN1	KNSTRN	AP4E1	KDM6A	AP4M1	RAB3GAP1	TCF20	KCNN3	ECEL1	TFAP2B	WDR26	TOPORS	TBX1	SOX11	BPTF	MED25	MED12	POR	PDE4D	SCYL2	ZNF711	ATRX	AUTS2	AGL	PIGV	SMS	ARID1B	POGZ	SYT1	ALDH6A1	USP9X	TBL1XR1	TGIF1	PRMT7	ESS2	CAMTA1	ATP6V1B2	EPG5	ABCA5	SPEN	CCNQ	DYNC1I2	KCNJ6	EXTL3	TRRAP	RAB3GAP2	OFD1	QRICH1	SLC25A46	LTBP3	DLG3	SIM1	BICRA	KIAA0753	ELN	SMPD4	CASK	CDK19	KCNJ2	RUSC2	SMARCD1	FLNA	PGAP2	CSGALNACT1	SNIP1	GPAA1	FOXP1	KCNK9	DGCR2	FBN1	RAB39B	CDK10	SATB2	HRAS	TFAP2A	ACTL6B	ABCC9	TLK2	HDAC8	KCNH1	MADD	SPOP	AGTR2	POC1A	ECE1	RBMX	TUBGCP2	KIF11	PIK3CD	TCF4	CCDC8	TP63	TRPS1	CLIC2	GJA5	KDM3B	ASXL3	MESD	PIGO	PYCR1	ATP6V0A2	USP27X	TAF1	PIGQ	HNRNPK	TBX2	CPLANE1	PURA	SOX5	NXN	CEP57	ZNF81	SRD5A3	KMT2A	GP1BB	PAK3	MECP2	COG6	PQBP1	EXOSC2	TWIST2	GATAD2B	CIT	KAT5	APC	SUPT16H	MLXIPL	KDM4B	ARID2	PGAP3	XRCC4	SNRPN	FLNB	MCTP2	TBC1D24	CTCF	ZNF41	C2CD3	GDI1	DGCR6	FTSJ1	GLB1	ACTG1	HSPA9	COL11A2	TMEM231	PRKAR1A	KAT6B	PUF60	SLX4	KMT2D	SHH	DLX4	PTPRF	HDAC4	LMX1B	PIGL	ARVCF	SLC9A7	CDH11	CUL4B	UFD1	EDEM3	ALX3	KDM5B	HUWE1	COG4	CNKSR2	DDX3X	MPDZ	CTNNB1	ADNP	SOX4	METTL5	HIRA	CHRNA7	SMARCC2	DMD	ATP6V1E1	ACSL4	MYMK	TBC1D23	KPTN	SYP	KIF15	NRAS	SETD5	EXT1	SETBP1	DYRK1A	MAP3K7	STXBP1	SMARCE1	TSPAN7	STAG2	LAS1L	PORCN	MUSK	SEC24C	ALX4	PTCH1	PRKACA	EXOC2	GJA8	SMC3	AFF3	ALG3	IL1RAPL1	SIX2	CUL7	IGF1R	TMEM216	NHEJ1	CCNK	DPYD	CCDC47	PPP2CA	AIFM1	DPF2	KDM1A	HECW2	CPT2	RNF135	KIFBP	ZBTB20	MID2	KMT2B	PIGY	ADAMTS18	ASXL2	KIF7	SRCAP	FMR1	EFNB1	HS2ST1	ARX	ALG13	MRAS	IDUA	STEEP1	JMJD1C	TCTN3	PCGF2	MTX2	PDE6D	CENPJ	UNC80	KCNJ5	MED12L	ZNF292	MBD5	UPF3B	ATN1	INTS1	ZMYM2	PTCHD1	DGCR8	EIF5A	RREB1	SH3PXD2B	CEP55	RNU4ATAC	HCFC1
HP_DEPRESSED_NASAL_TIP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEPRESSED_NASAL_TIP	EPG5	KMT2D	SHH	FLNA	KDM6A	TAF1	MYCN	ZEB2	MUSK	TBX2	ACTB	LMBR1	ALX4	EXT2	EIF2S3	KMT2A	PTCH1	SPTBN1	TP63	PHF21A	COLEC11	CILK1	ACTG1	TGIF1	EXOC2
HP_CONVEX_NASAL_RIDGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONVEX_NASAL_RIDGE	SLC25A24	FGFR3	CENPJ	MBTPS2	ASPH	DONSON	TBCE	CPLX1	FGFRL1	ATR	ERCC4	NHEJ1	XRCC4	EFEMP2	EP300	WRN	NUP85	ERF	RNASEH2A	LETM1	ZEB2	VPS13B	COG4	PPP2R3C	APC	BANF1	COL1A1	CTBP1	CTSK	LMNA	ZMPSTE24	C12orf57	CEP152	COL1A2	NBN	ALG9	FGFR2	ATRIP	PTF1A	NUP188	SATB2	POLR3A	TRAIP	POLD1	CREBBP	MGAT2	SLC2A10	TWIST1	RUNX2	UBR1	CSGALNACT1	LEMD2	MEIS2	ERCC2	ITCH	NSD2	PLK4	RMRP	RBBP8	PEX1	DNA2	GRIP1	LRP4	CENPE	PCNT	ATP7A	ZPR1	COL3A1
HP_WIDE_NOSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDE_NOSE	RTL1	MOGS	ACY1	IDS	DONSON	SMARCB1	RPS6KA3	RAI1	CHD8	KAT6B	DLK1	MEG3	AVP	LEMD3	CKAP2L	AIP	SKIV2L	INSR	ACTB	LARP7	ZNF341	KCNH1	ACTG1	DYNC2I2	QRICH1	IDUA	HCCS	HMGA2	GDF5	SATB2	OFD1	KATNB1	BUB1B	MAN1B1	ALG12	PAM16	TMCO1	DVL3	ADAMTS18	RNF2	HDAC4	LMX1B	BRCC3	PTEN	NOTCH2	TCTN3	TOGARAM1	VPS33A	RNF125	FRAS1	GRIP1	SIN3A	GPR101	CLCF1	ASPH	FZD2	SEC23A	MGP	STAT3	FGFR1	PPP1R15B	FHL1	WNT5A	CRLF1	PPP1CB	TRMT10A	NANS	ARID1A	SMARCA4	SETD1A	SMARCA2	BUB1	RELN	KCNN3	KIF11	DYNC2I1	TRIP13	FUCA1	COX7B	TBX1	TTC37	STXBP1	TONSL	SLC37A4	SMARCE1	IFT80	VPS53	CAMTA1	WBP11	COG7	NDUFB11	DYNC2H1	BUB3	KMT2A	OTUD6B	PIGG	STAMBP	ATP6V1B2	PAFAH1B1	CEP57	TRIM37	DVL1	YWHAE	TBL1XR1	NDE1	GPC4	WDR35
HP_NARROW_NASAL_BRIDGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_NASAL_BRIDGE	NONO	GAS1	FGF8	SMARCA2	NDN	KCNJ6	EP300	HERC2	SNRPN	RNF13	COG4	PTCH1	NDP	RECQL4	GJA1	PWRN1	GDF5	TDGF1	NFIB	MKRN3	SNORD115-1	SIX3	BMPR1B	GLI2	CDON	ZIC2	CREBBP	MMP2	SIM1	MED12	SUFU	NODAL	SHH	TGIF1	SRCAP	FGFR1	DLL1	COL3A1	MDM2	PAX3	KCNK9	PPP1R21	PORCN	NPAP1	MAGEL2	FOXH1	SNORD116-1	PWAR1	DISP1	RNU4ATAC
HP_PROMINENT_NOSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_NOSE	CHD3	DYNC1I2	ADAT3	FBXL3	KAT6B	SRCAP	TTI2	SMG8	EXTL3	SNRPN	OPHN1	NSUN2	USP9X	CEP120	ACTB	EIF4A3	TAB2	CTSK	DCAF17	SOX6	PEX19	ACTG1	QRICH1	RBBP8	PSMB8	PSMD12	EXOSC5	MAN1B1	CENPE	SPOP	CDK19	ATR	RUSC2	NHS	PLAGL1	EMG1	AP4S1	LMBR1	LIG4	NONO	RNU4ATAC	PMM2	CUL4B	TAF6	MINPP1	ITGA3	ZNF699	PCNT	FGF3	ASPH	INTU	BCL11B	MED12	METTL5	CLTCL1	PLK4	NIN	BLM	POC1A	FHL1	UNC80	SPART	DENND5A	WDR73	STIM1	COG5	NBN	MBD5	BPTF	HYMAI	AP1S2	PDE4D	EP300	APC2	RLIM	GNB2	PEX3	STAG2	ACER3	NFIX	GPC4
HP_CHOANAL_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOANAL_STENOSIS	TXNL4A	POLR1B	SETBP1	POR	DCHS1	SCARF2	RECQL4	FAT4	FGFR2	PTH1R	NFIX	POLR1D	PTDSS1	SOST	SALL4	ASXL3	FGFR1	CEP55	MSL3	FRAS1	FAM20C
HP_FLARED_NOSTRILS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLARED_NOSTRILS	SMOC1	ANKRD17	PDHA1	USP9X	SIN3A	CDC42	BRCC3
HP_BROAD_NASAL_TIP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_NASAL_TIP	APC	SUPT16H	KAT6A	IL1RAPL1	POGZ	SIX2	MLXIPL	IGF1R	ARID2	CLCN4	PGAP3	TMEM216	EXTL3	CCNK	XRCC4	SNRPN	KDM6A	DYRK1A	DPYD	DOCK7	FLNB	MCTP2	PPP2CA	TBC1D24	CTCF	ZNF41	RAB3GAP2	ARSL	EXT2	SMARCAL1	GATAD2B	GDI1	AIFM1	FTSJ1	RYR1	ATP6V0A2	OFD1	DPF2	GLB1	FAM149B1	QRICH1	TFAP2A	ZSWIM6	DLG3	PRKAR1A	PUF60	RPS6KA3	RNF135	ZBTB20	KIAA0753	MID2	ELN	CASK	ADAMTS18	ASXL2	KIF7	SMARCD1	SRCAP	EBF3	PTPRF	TAF1	GPAA1	SMARCA4	FOXP1	HDAC4	KCNK9	HNRNPK	HS2ST1	SLC9A7	FRMPD4	ARX	LRP2	EIF2S3	CDH11	ALG13	PGAP2	RAB39B	ALX3	HUWE1	PHF21A	IDUA	CDK10	CNKSR2	NACC1	STEEP1	HRAS	CTNNB1	ADNP	TLK2	HDAC8	WAC	TCTN3	SOX4	PDE6D	METTL5	SMARCB1	AGTR2	RARB	POC1A	SMARCC2	PHF8	KIF11	ATP6V1A	DMD	ARHGEF6	ATP6V1E1	CCNQ	PIK3CD	ARID1A	IQSEC2	KNSTRN	ACSL4	ASXL3	UPF3B	RAB3GAP1	MYMK	TFAP2B	KPTN	SYP	ZMYM2	CPLANE1	NRAS	TOPORS	SETBP1	SOX11	BPTF	KDM3B	MAP3K7	PIGO	SMARCE1	ZNF711	AGL	PTCHD1	PIGV	ARID1B	TSPAN7	USP27X	PIGQ	LAS1L	MED12	PORCN	TBX2	PURA	NXN	KCNN3	ALX4	ZNF81	PAK3	SH3PXD2B	MECP2	COG6	USP9X	TBL1XR1	PRMT7	BCOR	HCFC1	EXOSC2	ATP6V1B2
HP_BIFID_NASAL_TIP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIFID_NASAL_TIP	ZSWIM6	BCOR	FREM1	FZD2	ATP6V1B2	ALX3	ALX4	CENPJ	HSPA9	FRMPD4	EFNB1
HP_DEPRESSED_NASAL_RIDGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEPRESSED_NASAL_RIDGE	B9D2	PTCH1	HSPG2	SOX9	SPEN	RERE	PROP1	SHH	TMEM216	ZIC2	SIX3	PEX12	SNAP29	PAX3	MAN2B1	ARSL	TGIF1	STAG2	LHX4	FGF20	TCTN2	STIL	CDON	HSPA9	TWIST2	GREB1L	DZIP1L	GLI2	CNOT3	CREBBP	PRKCZ	FGF8	FAM20C	B9D1	CSPP1	PIGL	PRMT7	EDA	TMEM237	POU1F1	FOXH1	DLL1	CHRNG	UBE4B	RPS19	TCTN3	FGFR1	GAS1	CASZ1	FOXA2	KDF1	PAX7	LMBR1	GLB1	LBR	TXNDC15	RMRP	MYH3	TCTN1	GHR	HESX1	DISP1	NODAL	TDGF1	GLI3	CHRND	RET	EDAR	PTPN11	GMNN	TFAP2B	CEP290	KCNAB2	EFNB1	ABCA12	AASS	ATRX	BUB1B	NALCN	LUZP1	SOX3	WNT9B	SMC1A	TMEM107	TRAF6	ALX4	BUB1	SLC35C1	TMEM67	BMPER	MMP23B	ITGA8	OTX2	RPGRIP1L	PEPD	MKS1	HDAC6	PSAT1	TRIP13	PDPN	TBX1	TTC37	CC2D2A	PRDM16	GABRD	SKI	RPGRIP1	CHRNA1	BUB3	MN1	PRKAR1A	CEP57	EDARADD	EDA2R	TMEM231	PKHD1	PDE4D
HP_ANOSMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANOSMIA	ARNT2	GNRH1	PROKR2	NSMF	LZTFL1	SHH	PHYH	SOX2	DCC	ANK1	SEMA3A	FGFR2	SMCHD1	HS6ST1	FGFR1	SCN9A	FGF17	CHD7	FGF10	TACR3	HESX1	ANOS1	FEZF1	KISS1	SOX3	ADCY3	PEX7	OTX2	IL17RD	DUSP6	ARSL	SOX10	FLRT3	PROK2	TAC3	NDNF	SPRY4	SEMA3E	ATP13A2	DNAI1	FGF8	CCDC141	FGFR3	WDR11	KISS1R	MFN2
HP_NARROW_NOSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_NOSE	POLE	RNU4ATAC	CCNQ	SMC1A	COL5A1	TP63	EYA1	FGFR2	ACP5	SCARF2	CARS1	ERCC6	TWIST1	SATB2	ERCC8	HYOU1	ABL1	PDGFRB	TRRAP	GJA1	DDR2	FBN1
HP_ABNORMALITY_OF_THE_NECK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_NECK	NDE1	ELN	UNC80	MECP2	DRD2	DDRGK1	RB1	XYLT1	MGAT2	RRAS	CDC42	SYNGAP1	RIT1	NKX3-2	KLHL41	PEX3	MYF5	HSPG2	COL6A2	VCP	GABRA1	FBN2	CDH2	SOS1	EIF4H	HDAC4	PIGW	ZMPSTE24	IDUA	EMD	ERCC2	LIFR	ODC1	MYLPF	PRMT7	TECPR2	TWIST1	BBS5	CHRNG	RSPRY1	RAPSN	TRAF3	CEP290	CEP19	ESCO2	TOGARAM1	CRKL	HPCA	POGLUT1	SIX1	SMC3	TNNI2	SEMA3E	CHST3	BBS7	NAA10	ERLIN2	ERCC1	SMARCAL1	AEBP1	UNC93B1	CPLX1	POLR1D	ATP6V1A	PHF8	MED13L	SCP2	PEX6	SCN2A	RPL27	SMC1A	FANCB	WNT7A	SPTBN1	KNSTRN	HRAS	DHX37	COL6A3	FAM20C	LHX3	BRAF	RPL35A	FUS	ECEL1	MAPT	RPS26	NIPBL	PSAT1	PEX12	BRF1	SCYL2	SMS	RPS15A	MRPL12	MEFV	CSPP1	SEMA5A	RPS24	FLI1	GATA1	METTL27	RNU4ATAC	CREBBP	TRIP11	BCOR	RAB3GAP2	PIGN	CEP57	FHL1	TMCO1	GRN	FTO	PEX16	FIG4	FLNA	PKDCC	MESP2	RPL15	ADAT3	PIK3CD	RTL1	RAD21	TRIM32	GCH1	TBX1	KRAS	COL2A1	RIPPLY2	PEX26	GNAL	FKBP6	PAM16	BRD4	MINPP1	ANO3	OTUD5	CSGALNACT1	LMNA	GDF3	MKKS	B4GALT1	MICU1	PNKD	BUD23	WDR37	MSL3	DNAJC30	PRKRA	CHRND	PEX14	SELENON	IGBP1	GNE	CNP	GNAS	SOX9	VPS37D	GUSB	CRLF1	PSEN1	TAPT1	PPP1CB	IGF1R	RPS19	FGFR1	TCF4	CCDC8	THPO	GATA2	ATP1A3	TRAPPC9	ACAN	ANTXR2	TMEM260	TRIP13	EP300	PGAP1	TRPV4	DVL3	NF1	SLC26A2	MAPRE2	TAF1	HNRNPK	STX16	NUP88	ACTB	WDR35	THAP1	ATP6V1B2	TNNT3	MYOD1	PTPN11	CANT1	APC	PIGG	TTN	SUPT16H	HDAC8	ALDH18A1	KDM4B	RIPK4	CEP85L	SNRPN	TICAM1	RAF1	CTBP1	PCDH19	ACTA1	SPRED1	MEGF8	ACTG1	HSPA9	COL11A2	TFAP2A	NUP188	ATN1	FGD1	MAN1B1	ALG12	TBC1D24	RPS28	PRKCZ	VPS51	TPM2	CDK5	FANCI	RPL35	NALCN	NDUFB10	CYP27A1	LZTR1	PIGL	ABCC9	RPL5	PPP2R5D	HPDL	UFD1	EDEM3	PSENEN	DKK1	GPX4	LHX4	HIRA	TRAPPC2	KCNAB2	PPP1R15B	INPPL1	AGPAT2	CBL	COG1	CP	PPARG	HYLS1	MYH3	WASHC5	MKS1	PIGS	DDC	SLC39A13	CUL7	NKX2-1	HERC1	SETBP1	PDPN	SGCE	MAP3K7	ERCC6	GDF6	MAPK1	NRAS	SOS2	SQSTM1	TMEM106B	MUSK	SEC24C	PRRT2	NEB	MPL	PAFAH1B1	SNRPB	AFF3	PEX1	VPS11	POGZ	SLC35D1	PEX11B	DCC	SPEN	KIAA0586	MAP2K1	FOXC2	VPS16	ANKRD11	BPTF	TBX6	FOXF1	NEK9	DYM	KMT2A	HABP2	GPC6	LZTFL1	CAV1	PEX5	PGAP3	CNOT3	TALDO1	KIFBP	MAP2K2	KMT2B	TUBB	DLL3	COL12A1	PIGY	KIAA1109	HBA2	BAZ1B	MEG3	RFT1	NOG	MAN2B1	KCNC3	EBP	NOTCH2	SCAPER	MIR140	RRAS2	ERMARD	BBS10	LBR	UBE2A	RMRP	CUL4B	NLRP1	CCDC22	FOS	PCGF2	KCNJ8	HESX1	BBIP1	DLK1	MRPS22	PEX2	BBS2	PTCH1	FBLN5	COX20	WDPCP	ALG9	SLC35A2	INTS1	PTEN	TTC8	KRT5	GPC4	ZMYM2	RPL31	CTNND2	ROBO3	KIF7	MED12	RPS29	B3GLCT	TSR2	TCTN2	RREB1	CLIP2	PIEZO2	SH3PXD2B	TBK1	GTF2IRD1	OTUD6B	CEP55	IGF1	SIX5	COG7	WDR81	SMAD4	COMT	EXOC6B	TREM2	ALS2	RPL10	SRCAP	HK1	COL6A1	FGFR3	GTF2I	NCF1	ROR2	EYA1	CHMP2B	RYR1	TOR1A	NELFA	POLR1C	RPL18	AMER1	SATB2	SDCCAG8	INTU	IFT27	LETM1	SCN9A	GNPTG	DDR2	IFT74	ATP13A2	OBSL1	CHD7	SALL4	MYO18B	COLEC11	GLE1	PHGDH	CAVIN1	SLC25A24	WAC	TBCK	ABCC6	EFNB1	MEOX1	LMOD3	MRAS	BUB1B	BCL7B	SCN1A	KCNN3	RPS10	TASP1	GPKOW	PTCH2	CCN6	ATRX	PRDM16	FANCL	NXN	POU1F1	RAB3GAP1	SLC2A1	NSD2	COL11A1	TLR3	DVL1	TBL1XR1	AKT1	TUBB4A	SVIL	HBA1	ATP7A	TGM6	KCTD17	GPC3	SPTLC1	SIGMAR1	RERE	ENPP1	RFC2	PIEZO1	SPRED2	DOK7	SMPD4	IRX5	CLDN11	MYH7	PGAP2	XYLT2	TGDS	NBAS	CDK10	BMPER	ATP1A2	TCOF1	ADARB1	MRPS28	FLNB	CD96	KCNH1	MADD	LIPE	WNT5A	CFL2	ADA2	FOXE1	COG5	BUB1	FN1	CFAP418	WNT4	EXOSC9	PALB2	RDH11	BSCL2	PSMD12	ATP6V0A2	CHRNA1	WBP11	TBX2	GP1BB	YWHAE	NFIX	AMMECR1	NOTCH3	MLXIPL	SRY	DONSON	LRP1	MCTP2	IFT172	FBXW11	C2CD3	GDAP2	LIMK1	VPS33A	POFUT1	RPS17	RPS7	VAC14	PUF60	PROP1	BBS9	C9orf72	POP1	ALDOA	UBE4B	LMX1B	SLC35A1	ARVCF	SHOX	FGFR2	CDH11	ZNF142	HUWE1	IDH1	RPS27	ZNF699	FZD2	CACNA1A	SHOC2	TBX15	RPS20	PIGV	NANS	B3GALT6	PEX19	LFNG	TUBB3	NBN	MMP23B	IFT43	STXBP1	BUB3	TBL2	PEPD	CIZ1	MAFB	CHN1	TRAF7	RASA2	GABRG2	DHCR7	FGFRL1	GNS	BBS12	DPYD	POLE	TMEM270	BBS4	BBS1	AIFM1	PEX10	PEX13	B3GAT3	OFD1	PIK3C2A	STX1A	RAB33B	ALG8	GZF1	RAB23	RPL11	HS2ST1	CASZ1	POLR1B	ERCC5	GLB1	SLC18A3	RPL26	GATA4	JMJD1C	BCR	GTF2IRD2	SPG11	ARL6	SUFU	PIGO	KIF1C	TRMT10A	ATP6V1E1	SCN1B	LUZP1	HES7	MRPS16	TBR1	TGFB2	ZC4H2	PIGA	SMARCD1	GABRD	SKI	NPHP1	IDS	IRF3	TBP
HP_WEBBED_NECK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WEBBED_NECK	RASA2	GPC3	RAF1	RPL15	SRY	TPM2	CPLX1	FGFRL1	KRAS	GATA1	TNNI2	RB1	BRAF	RRAS	NRAS	CDC42	RIT1	MAP2K1	FOXC2	ACTB	FBXW11	CTBP1	C2CD3	MEGF8	RYR1	KMT2A	PIEZO1	SOS1	ACTG1	RPL18	RPS17	RPS7	AMER1	B3GAT3	SPRED2	RPS28	MAP2K2	IRX5	PTPN11	ZMPSTE24	KIAA1109	LZTR1	NF1	RPL35	XYLT2	GDF3	NALCN	GDF6	RPS19	LMX1B	SLC35A1	RPL11	CHD7	RPL5	ANKRD11	RRAS2	SALL4	BCOR	MYO18B	RPL26	DVL3	RPS27	SEMA3E	CHST3	FLI1	RPS24	LMNA	PIGL	AEBP1	MEOX1	SHOC2	MRAS	RPS20	PPP1CB	TAPT1	CBL	LETM1	ADA2	MYH3	IGF1R	RPL27	SMS	HRAS	NAA10	RPL35A	GATA2	BMPER	RPS10	SLC39A13	GPC4	RPS26	TASP1	RPL31	NKX2-1	CHRNG	TMEM260	B3GLCT	MAP3K7	STXBP1	RPS15A	RPS29	SOS2	TSR2	WBP11	MKS1	TBX2	MAPK1	NSD2	GLE1	SNRPB	MAFB	TNNT3	CHN1
HP_LIMITED_NECK_RANGE_OF_MOTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_NECK_RANGE_OF_MOTION	NOG	SCN1A	SCN1B	GDF6	GABRG2	SCN2A	SCN9A	PCDH19	MYLPF	MEOX1	GABRA1
HP_NECK_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NECK_MUSCLE_WEAKNESS	COL12A1	CHRND	TPM2	MYO9A	ALS2	AGRN	NEB	SPTLC1	PYROXD1	SIGMAR1	KBTBD13	MUSK	FA2H	PABPN1	TGM6	LMNA	ACTA1	KLHL41	DOK7	DES	TRIM32	VAMP1	CHRNE	DYSF	ORAI1	PSAP	LRP4	MYPN	NOTCH2NLC	SELENON	TTN	SLC52A2	PNPLA2	MORC2	TOP3A	CHCHD10	SLC25A1	SCN4A	RNASEH1	SLC5A7	MYH7	GYG1	TRIP4	TPM3	LAMA2	SLC18A3	CRYAB	COLQ	PRPS1	SNAP25	GMPPB	COL13A1	COL6A2	GFPT1	MT-CO3	COL6A3	MYL1	MTM1	CAV3	LRIF1	CNBP	SYT2	SPG11	LAMB2	MYH2	LMOD3	CHAT	CFL2	SGCG	GALC	LPIN1	RRM2B	MT-CO1	CHRNA1	FUS	CHRNB1	JAG2	MYOT	COL6A1	AK9	TMEM43	SYNE1	RAPSN	SLC52A3	SLC22A5
HP_LONG_NECK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_NECK	HERC1	EBP	EYA1	FLNA	ATP7A
HP_THICKENED_NUCHAL_SKIN_FOLD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICKENED_NUCHAL_SKIN_FOLD	RASA2	PEX1	PEX14	TREM2	ABCC6	PSEN1	TMEM106B	EFNB1	RRAS	PEX11B	MRAS	GRN	RIT1	ENPP1	PEX2	TBC1D24	HRAS	PEX3	RAF1	PEX6	CHMP2B	VCP	FOXF1	PEX19	KRAS	PEX10	ALG9	SLC35A2	PEX13	SOS1	HNRNPK	MAPT	OFD1	PEX5	EBP	PEX12	PEX26	C9orf72	SPRED2	PSAT1	NRAS	SOS2	SQSTM1	GATA1	CBL	RRAS2	TRIP11	PIGN	SLC26A2	PEX16	RNU4ATAC	LZTR1	ATP6V1B2	TRAF7	PTPN11
HP_BROAD_NECK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_NECK	ZMYM2	IGBP1	PSMD12	NF1	MED12	TECPR2	CCDC22	UBE2A	TWIST1	MAPRE2	B3GLCT	PPP1CB	RAPSN	COG1	POLE	HYLS1	SLC2A1	RPS28	NUP88	BPTF	WNT7A	TOGARAM1	DHX37	RPS26	SVIL
HP_CYSTIC_HYGROMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CYSTIC_HYGROMA	RASA2	SPRED2	DOK7	DONSON	RAPSN	MUSK	KRAS	KIAA1109	RRAS	BRAF	WDR35	MRAS	CHRNG	PTPN11	NRAS	CHRNA1	MCTP2	SOS2	RIT1	HNRNPK	MAP2K1	RAF1	TGDS	NUP88	MYOD1	CBL	ESCO2	RRAS2	FOXF1	TRIP11	PIGS	LBR	SLC18A3	SLC26A2	SOS1	CEP55	COL2A1	IFT43	ATN1	LZTR1	CHRND	TRAF7
HP_ABNORMAL_RETINAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RETINAL_MORPHOLOGY	NDE1	FAM111A	PROM1	MYO5A	IL12A	ZEB2	CTSA	LZTFL1	PDE6B	CEP290	RTTN	RB1	COX7B	APOE	MT-ND1	TAF2	BBS4	GATA3	OTX2	RLBP1	BCOR	FLVCR1	TERC	CEP41	MED27	IFT140	LRP5	ERCC3	NDUFA10	KATNB1	MORC2	PEX7	PCDH15	MAB21L1	WDR19	BBS5	RSPH1	DLST	ADAR	OFD1	LRAT	UNC119	EMC10	STAT4	RIMS2	PEX5	OPN1SW	ARV1	BBS7	TRIP12	CNGB3	MT-ND6	HGSNAT	CAV1	PHYH	PDE6H	TXN2	FZD4	COL4A1	ATP6V1A	ATP1A2	GALC	CLCN3	PET100	YAP1	FBXW11	LYST	RAI1	LRIT3	TCF20	PRPF3	ARL6	PEX12	BAP1	UBA5	ODAD3	OPN1MW	TARS1	CRX	CSPP1	CTNNB1	ABCA4	RLIM	WT1	MT-CO3	RDH5	GNPTAB	PRPH2	CNGA1	DYRK1A	CACNA1F	MYT1L	ESS2	VHL	ZPR1	ALMS1	AIRE	ETHE1	PLOD1	RP1L1	PAX6	POMGNT1	PNPLA6	PEX11B	FAS	RAB3GAP1	CFI	VPS13B	DNAAF11	TBX1	SDHAF2	ODAD1	TUBGCP6	TENM3	FBN1	PEX26	TMEM138	COL9A2	PIGL	HPDL	CYP4V2	AGBL5	REEP6	RET	TSC2	PEX16	CCDC65	DGCR2	ERCC6	PEX6	CLCNKB	BUD23	DRAM2	NPHP3	PMM2	PRCD	ALG6	DNAJC30	SDHB	PDE6C	RNU4ATAC	PUS7	SYNCRIP	HSPD1	KRT25	PTEN	ZNF513	KCNJ13	MYO7A	DEAF1	RCBTB1	FAM161A	AGO2	ARL13B	DHDDS	SDCCAG8	TMEM107	COL18A1	ERCC8	MT-TE	TRPM1	POMT2	B4GAT1	GGCX	MKS1	EP300	PRSS56	PEX13	SPTBN1	NECAP1	CLTC	KIF1B	YARS1	PRDM5	SMPD1	TMEM127	ZNF408	NDUFB11	RNF216	KAT8	IFT172	SEMA4A	TMEM67	SLC19A3	SAG	MKKS	CEL	IQCB1	PEX1	NF1	COL11A1	FKRP	DRC1	VCAN	GNAT2	CFAP418	KDM4B	G6PC1	GNA11	ASAH1	APOC2	SCO2	CEP164	MAX	TCTN2	RP1	NSMCE2	GLB1	ACTG1	CC2D2A	TFAP2A	MT-TW	CRB1	TMEM216	ALG12	CFH	CENPF	SDHA	GALNT3	TMEM237	GABRA2	ARL2BP	CYP27A1	SEMA3E	TNRC6B	IMPDH1	CBS	LARGE1	CLDN19	TULP1	CNNM4	UFD1	SALL4	ATP1A3	NDUFA9	TPP1	TACO1	AP3B2	ATXN2	IFT88	KLHL7	FKTN	CYP1B1	PDE6A	PRF1	MT-CO1	COG1	CP	WASHC5	HCN1	OCRL	PEX19	AHR	DSE	SELENOI	ACTL6A	ROM1	POMT1	MSTO1	MDH2	PRPF6	XYLT2	CLN6	SLC24A5	TNFRSF11B	PAX2	USH1C	ELOVL4	CDH23	HS2ST1	APOB	RTL1	SRCAP	OPN1LW	SDHD	GDF6	PITPNM3	CACNA2D4	BLOC1S5	P3H2	GNAT1	HSD17B10	SBDS	MT-TS2	DPP6	GMPPB	GRN	RXYLT1	DNAAF5	WHRN	BAZ1B	MEG3	GRM6	TCTN3	NEU1	DUX4	SDHC	SLC19A2	MT-ATP6	FBN2	BEST1	TRAF3IP1	MT-ND5	MERTK	BBS10	TXNDC15	RMRP	PANK2	DNAI2	MT-TV	CIB2	ALDH3A2	UBE3B	DYNC2LI1	KRAS	RBP3	IDH3A	RP9	BBIP1	FSCN2	TTC8	CHST14	PTCH1	WDPCP	OCA2	C12orf57	MGMT	FH	INTS1	SLC24A1	ABHD12	CLRN1	SHH	SLC25A15	NDUFS1	B3GLCT	GPIHBP1	DGCR8	RD3	ENG	DAG1	IQSEC2	CLIP2	GTF2IRD1	AP3D1	DALRD3	CWC27	SACS	DCT	NYX	ADGRV1	HK1	MT-CYB	KIZ	GRK1	MT-ND3	GTF2I	CTLA4	PRPS1	NTRK2	SZT2	NMNAT1	HCCS	HLA-B	MPLKIP	COL2A1	IFT27	LETM1	FIBP	MT-TH	NF2	KRIT1	FOXRED1	MAF	SURF1	MT-ND4L	LRP2	NEK1	DNAH1	PLK4	GNAQ	MAPKAPK3	ABCC6	TUBB4B	MAPK8IP3	RAB28	TLCD3B	NDUFS4	CACNA1A	CFAP300	NDP	KIAA0586	NPHP4	IMPG1	SALL2	NPHP1	MT-CO2	POGZ	CHD7	FRG1	RAB18	IFNG	NHS	POU3F4	NDUFAF3	RPGR	CCDC32	ARL6IP6	HADH	RPGRIP1L	NDUFS8	CNGB1	AGXT	HEXB	FOXC1	ASXL1	HBB	NDUFS2	CA4	TLR4	ARL3	EEF1A2	MICOS13	KCNA2	WWOX	CFHR1	MFRP	PRR12	DNAAF4	RPGRIP1	CDH3	VSX1	ELN	BMP4	RGR	CDHR1	TRNT1	CEP78	BLM	ANO10	POMK	EYS	NOD2	PRPF8	GUCA1A	ARHGEF18	BBS2	ATOH7	IFNGR1	VPS41	ATF6	FLCN	DNM1	RHO	SALL1	PRTN3	ADAM9	HHAT	HEXA	PDHA1	HLA-DPB1	RDH11	MTTP	SDHAF1	GUCA1B	IL23R	IVNS1ABP	BCS1L	TINF2	TP53	GUCY2D	AIPL1	FLNB	SAR1B	LAMA1	MLXIPL	SYCE1	SLC45A2	TYR	AKT1	LCA5	ALG8	ITM2B	PRPF31	TTC12	NR2E3	RP2	DGCR6	VPS33A	SLC12A6	HADHA	NDUFAF5	TMEM231	CFAP298	PUF60	BBS9	LOXL1	HADHB	MT-TL1	GAS8	TSC1	NUS1	STN1	DLAT	DNAAF3	SERPINC1	NSD2	SCN8A	WRN	RPE65	ARVCF	DNM2	ACTA2	BBS1	SMAD4	MPDZ	SPEF2	TANC2	IDH3B	DDX6	DNAI1	BCAS3	GRHL2	INPP5E	CTC1	PTPN22	DNAAF1	TMEM98	KIF3B	USH2A	GTF2H5	DACT1	NAA10	NRL	KCNV2	RS1	CHN1	LTBP2	MVK	NDUFAF6	CHST6	BBS12	ANK1	DPYD	PCNA	MITF	PEX10	SIM1	STX1A	GCK	RSPH4A	TTLL5	LIPT1	GZF1	TRAK1	MTFMT	RBP4	TSPAN12	IMPG2	CTNNA1	JMJD1C	GTF2IRD2	DARS1	OAT	ADAMTSL4	MT-ND2	POMGNT2	TNFRSF11A	FGF12	LPAR6	CCDC103	MC1R	MAK	POC1B	ERCC2	RRM2B	DYNC2I2	CTNS	ARL2	KLRC4	FGFR2	PRPF4	IDS	DNAH11	TMEM218	TERT	MT-TQ	JARID2	AHI1	GPR179	IL12A-AS1	NTNG2	B3GALNT2	CCDC40	CCDC28B	STUB1	PDX1	EXOSC3	CDK4	SUMF1	PEX3	EIF4H	ALDH1A3	SIX6	IDUA	RNASEH1	ERAP1	CTSD	B9D1	FBLN5	XRCC4	HMX1	ERCC5	RPL10	CASK	CEP19	GNB5	CYSLTR2	TREX1	MLX	SLC7A14	PCARE	RNU7-1	PTPN23	ERCC1	SRD5A3	MT-ATP8	NEUROD1	CPLX1	CRPPA	MT-TF	RIMS1	RAX2	RSPH9	KIAA1549	WDFY3	NDUFAF1	MMACHC	C1QTNF5	ARSG	TELO2	BLK	RERE	JAG1	GNB3	BCORL1	DNAJB13	TERF2IP	METTL27	ACD	GABRB2	CREBBP	PGK1	TMCO1	TUB	CERKL	TRIM32	NDUFV2	DNAH5	USP45	NDUFA4	ATXN7	VPS4A	DHX38	C2CD3	SLC1A2	APC	MAN2B1	SPAG1	NGLY1	AARS1	HPS4	KMT2E	NDUFAF2	FKBP6	POT1	RNF113A	TEK	DYNC2H1	ACTL6B	MT-TK	PIK3CA	PDCD10	ZFYVE26	SH3BP2	WFS1	CHEK2	ZNF469	NDUFA12	TCF7L2	CABP4	HSD11B2	PEX14	VPS37D	LOXL3	KIF11	INS	TEAD1	CNGA3	C4A	GABRA5	PDZD7	KRT71	GDF3	LRRC32	CNKSR2	PARS2	TUBB	PGAP1	CDKN2A	PDE6G	ECHS1	PDE6D	SETD1A	ACTB	RPS6KA3	COX15	PORCN	HLA-DRB1	EXOSC2	PIGG	ZMYND10	ABCC8	HNF4A	PSAP	PAX4	CEP120	TBX22	GM2A	INSR	WARS2	UGP2	PEX2	UBAC2	ADAMTSL1	AP5Z1	HIRA	MCIDAS	CHM	F12	SLC37A4	ACBD5	RDH12	BLOC1S3	CCR1	NDUFB8	DNMT3B	HNF1A	SEC24C	ERCC4	TRIM37	COL9A3	SNRNP200	DNAAF6	ANKRD17	B9D2	SYNGAP1	SATB1	AMACR	ZEB1	GPR143	CELF2	ZNF423	CCDC39	COA8	CCNO	RAB3GAP2	CEP83	NOTCH2NLC	EFEMP1	PROS1	FOXJ1	DNAJC21	GDF2	PCYT1A	GSS	GABRG2	SMCHD1	SF3B1	COQ2	TOPORS	SCAPER	MIR140	EDNRB	ELMO2	ENPP1	CCND1	MYO6	CCDC22	SVBP	COL9A1	FGF3	HACE1	MT-ND4	SPG11	WASF1	FGF13	RELN	NEK10	TIMP3	HLA-A	CCM2	ACVRL1	RREB1	GBA	HYDIN	COMT	KLF11	ZMIZ1	FGFR1	TRMT1	NDUFA13	TRIM44	DPM1	NEK2	NCF1	DNAAF2	SLC25A11	DOCK3	SCN3A	USH1G	NELFA	MED12	KRT74	ODAD4	MFSD8	LRRC56	DNMT3A	IFT74	GTF2E2	ARMC9	LPL	ATG7	DPYSL5	YWHAG	RAX	TUBGCP4	CA2	SOX10	KCNMA1	CLN5	BCL7B	KCNB1	HLA-DPA1	SYNJ1	WAC	BPTF	SPATA7	HPS5	HKDC1	CFHR3	FBLN1	GRIN2D	EDN3	MYD88	IKBKG	EPG5	CCNQ	DYNC2I1	DDR2	CLN3	SLC12A2	RFC2	MYOC	UBR7	ESPN	OPA1	PRDX1	GCDH	ISCA1	PPT1	GRIA4	MAPRE2	MCOLN1	CTBP1	TK2	CFAP410	IL12B	TCTN1	CYFIP2	FLII	SLC13A5	GAS2L2	KCNJ11	RNF2	NDUFS7	ODAD2	PEPD	NTNG1	ACOX1	CNOT3	DLK1	NDUFA2	ATP6V0A2	CHRDL1	TTC21B	GP1BB	CFAP221	TTPA	POLG	VPS35L	ASPA	STAT3	PSMD12	MED13	LIMK1	PISD	XYLT1	CST3	CAPN5	SH2B1	SLC6A6	NDUFV1	CDK19	SOX2	DPAGT1	HPS6	SLC35A2	MIR204	MEFV	RSPH3	FDXR	FOXE3	MADD	LIPH	PALS1	TBC1D20	TRAPPC9	CLCN2	MIA3	CACNA1B	APPL1	TBL2	CLCC1	MAFB	ACO2	STK36	NDUFS3	TMEM270	DNAL1	NCAPG2	IL10	INVS	HTT	COL8A2	KIF5A	PPP3CA	CDKN2B	ADAMTS18	DNAH9	LMBRD2	MT-TN	IFT122	COX8A	ATP6V1E1	PPP2R3C	LMNA	IPO8	POLR3A	PIEZO2	IFT80	IGFBP7	HUWE1	HMCN1	CRYAB	OVOL2	EPAS1	TRAPPC4	NME8	MAGEL2	DHX16	SLC38A8
HP_RETINAL_COLOBOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_COLOBOMA	NMNAT1	PUF60	SALL2	CEP120	FIBP	PIGL	CASK	MKS1	LCA5	HMX1	B3GLCT	RAB18	SPATA7	RAB3GAP1	DHX38	ZEB2	CHD7	C2CD3	PRPS1	FGF3	RPE65	TBC1D20	CLDN19	PAX2	CEP41	KIAA0586	RAB3GAP2	SALL4	LRAT	INPP5E	INTS1	MMACHC	TFAP2A	CEP290	AHI1	SEMA3E
HP_ABNORMAL_CORNEA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CORNEA_MORPHOLOGY	MAF	IL12A-AS1	ELN	PROM1	FKTN	NTNG2	IL12A	ZEB2	TBCE	CTSA	GSN	B3GALNT2	CCDC28B	POLA1	SMG8	COX7B	TAT	HRAS	IL6ST	OTX2	SUMF1	FANCC	BCOR	CTNS	NDP	PEX3	HSPG2	MED27	EIF4H	CYP1B1	APOB	ERCC3	IDUA	FANCF	EXOSC5	ERCC4	COL17A1	OVOL2	FANCD2	MAB21L1	C1QBP	LIFR	MYORG	COL8A2	ERAP1	KRAS	B9D1	SLC2A10	HMX1	EBF3	SALL4	FGF10	LRP5	COL1A2	ESCO2	LRAT	EMC10	LMNA	SLC7A14	PCARE	STAT4	FRAS1	ERCC2	KDSR	TGM1	SC5D	SLC20A2	SMC3	PTPN23	OSMR	TRIP12	MED25	HGSNAT	FZD4	SMARCAL1	CPLX1	COLEC10	MAD2L2	FANCA	GJB2	PEX6	KRT3	YAP1	LAMB3	FBXW11	WDFY3	SCN9A	MBTPS2	TCF20	NIPBL	JAG1	PEX12	TBX1	UROS	TARS1	RERE	CRX	BCORL1	RLIM	WT1	FOXE3	METTL27	GALNT2	CREBBP	ARL6	GNPTAB	PPP1R12A	PIGN	CEP57	LCA5	DYRK1A	STS	MYT1L	APOE	PEX16	ESS2	FIG4	TUB	GUCA1B	AIRE	PLOD1	IDS	CERKL	RP1L1	PAX6	KDM6A	RAD21	HCCS	POMGNT1	USP45	GALNS	WNK1	RAB3GAP1	FERMT1	CRB1	COL4A6	VARS1	NGLY1	RBP4	ATAD3A	KMT2E	TENM3	MEGF8	UBE3B	KERA	PEX26	DCN	FKBP6	LIPC	BRD4	COL9A2	RAB18	PIGL	HPDL	CYP4V2	AGBL5	PEX5	LDLR	OTUD5	RAI1	DGCR2	ERCC6	POMK	TGFBI	BUD23	PTPN22	ZNF469	GTF2E2	FANCE	PRCD	DNAJC30	TFAP2A	TCF7L2	PUS7	NLRP1	FLI1	PEX14	ABCA12	SYNCRIP	RETREG1	CLTCL1	KCNJ13	VPS37D	DST	LOXL3	DEAF1	GUSB	KIF11	CRLF1	CRPPA	EP300	IARS2	TEAD1	C4A	AGO2	DHDDS	ARL2BP	EMC1	TMEM107	TCF4	PIK3R1	COL18A1	CRYAA	TFE3	TMEM67	SALL1	XPA	FLNA	SLC29A3	POMT2	B4GAT1	MKS1	NTRK1	TUBB	TRIP13	PRSS56	SPTBN1	COL11A1	MAPRE2	MMP14	LCAT	PIGQ	PRDM5	XRCC2	PLXND1	NDUFB11	KAT8	GLA	SEMA4A	SETD1A	NAGA	ST14	PYCR1	BRCA1	PORCN	PRPF31	SLC16A12	EXOSC2	POLR3GL	FGFR2	PIGG	HDAC8	ALDH18A1	FLNB	SOX2	PRPF3	RIPK4	MIR184	KDM4B	VSX2	ASAH1	IFT140	CTCF	LAMA3	TCTN2	SLC4A4	RP1	CRYGC	ACTG1	PPP1R17	ANTXR1	PLCG2	TBX22	ZMIZ1	GPR143	CENPF	CSPP1	CTDP1	MMP1	TMEM237	FANCI	DDB2	FKRP	FANCB	TNPO2	SCUBE3	FKBP14	TNRC6B	IMPDH1	WAS	LARGE1	FGFR3	UFD1	GORAB	EDEM3	UBAC2	SLC4A11	PIGT	AIPL1	TACSTD2	IFT88	FAM161A	FOXC1	HIRA	TRAPPC2	CEP290	PALB2	PLK4	ERCC8	FGFR1	CRYBB1	PDE6A	APOA1	AP1B1	ALOXE3	GNAS	MAG	KLHL7	DHX38	GJB3	FANCG	OCRL	FBN1	TRPV3	DSE	PTPN2	ACTL6A	ROM1	HLA-B	RPGRIP1L	RDH12	CACNA1F	SETD5	BLOC1S3	PRPF6	CCR1	RAB23	COL3A1	ELP1	GLRB	SEC24C	CLDN19	GJA8	TRIM37	COL9A3	XPC	SNRNP200	TMEM231	HS2ST1	CHST6	ANKRD17	ARSG	COL7A1	B9D2	APC2	PEX1	SRCAP	POGZ	SREBF1	GDF6	PEX11B	SATB1	ZEB1	RSPO2	H1-4	ABCA1	FOXC2	B3GALT6	RAB3GAP2	GNB5	OPN1MW	IL2RB	OCLN	RBP3	SLX4	KIFBP	PRPH2	SAG	KMT2B	MPLKIP	DNAJC21	LZTR1	COL4A3	BAZ1B	RNF2	RHO	TCTN3	NEU1	MAN2B1	WIPF1	BEST1	LTBP2	MERTK	TXNDC15	OPN1LW	ARHGEF2	ALDH3A2	SVBP	ZNF513	COL9A1	ATP7B	POLH	FOXL2	UBE2T	NOD2	RP9	FSCN2	TTC8	PEX2	FGF3	CHST14	FBLN5	ZFHX2	MBD5	CRYGD	INTS1	WASF1	SLC35C1	HLCS	NFIX	CLRN1	ALG11	IQCB1	MAP3K7	TULP1	NIPAL4	RFWD3	DGCR8	FUCA1	RREB1	IQSEC2	CLIP2	SH3PXD2B	FAS	GTF2IRD1	PCSK9	GJB6	PCYT1A	AP3D1	CHD3	COMT	MPV17	MYO1H	EPCAM	TRMT1	RAD51	TWIST2	GBA	HK1	KIZ	KIDINS220	GTF2I	NEK2	ACTB	NCF1	EBP	DOCK3	DAG1	KRT5	YY1	AGK	NELFA	IMPG1	PITX2	MMP2	LETM1	GNPTG	FIBP	ZMPSTE24	NHS	DNAI1	ACTL6B	FANCL	COL5A2	DPYSL5	ALOX12B	AGBL1	REEP6	CHD4	PACS2	TBCK	MAPK8IP3	BUB1B	KCNMA1	ABCA4	WDR73	BCL7B	KIF1A	COL4A1	WAC	BPTF	PITX3	SPATA7	TBC1D7	POMGNT2	GJA1	HMGB3	HARS1	ARID1B	COL4A4	BBS2	CCDC32	TBL1XR1	SLC25A24	PRMT7	SMC1A	IKBKG	CNGB1	PDGFRB	FGD1	SLC25A4	IFT172	ZNF408	CA4	DDR2	USP9X	TLR4	SLC12A2	RFC2	PDE6G	POMT1	UBR7	UBIAD1	PRR12	COL1A1	VSX1	SLC39A4	GRIA4	BMP4	CLDN11	IMPG2	RGR	ERCC5	CDHR1	MCOLN1	SCAPER	CTBP1	KRT14	TBC1D20	OFD1	REV3L	RAD51C	EYS	TCTN1	PRPF8	NR2F1	FLII	ATOH7	UROD	ARHGEF18	IFNGR1	LMX1B	PDE6B	BUB1	RPGRIP1	ZFHX4	MT-TS2	APOA2	NTNG1	IL2RA	MTTP	ARSB	ANKRD11	PNPLA1	B3GLCT	ANKRD55	EPHX2	CC2D2A	CNOT3	COL25A1	TEK	CHRDL1	IL23R	BRCA2	CFAP418	MARK3	GP1BB	AKT1	HLA-DRB1	AEBP1	GATAD2B	PLEC	MLXIPL	RPE65	USH2A	TMEM216	LBR	MT-CYB	PSMD12	MED13	NR2E3	CRYBB2	BTNL2	RP2	DGCR6	LIMK1	PDGFB	SLC39A8	GNAQ	CLCN3	PSMB8	RXYLT1	VAC14	NRAS	NSD2	ARCN1	ARVCF	AHR	TKFC	KAT6A	KDM5B	RNF125	DPAGT1	BBS1	NSD1	TANC2	CHMP1A	MAB21L2	IDH3B	GUCY2D	DDX6	TYR	MEFV	NOTCH2	BCAS3	SETD2	SHOC2	MADD	CD247	LAMC2	PALS1	TP63	XPR1	GRHL2	PEX19	GMPPB	NLRP3	GTF2H5	STXBP1	BBS9	DACT1	NAA10	NRL	GLB1	IDH3A	BUB3	TBL2	KCNV2	WNT3	TOPORS	MAFB	CHN1	FANCM	CHUK	ADNP	DHCR7	ANK1	DPYD	IKZF1	TMEM270	PPP2CA	BRIP1	PXDN	RECQL4	NCAPG2	IL10	PPP2R5D	PEX10	PEX13	HTT	GHR	RD3	STX1A	SCARF2	ADAMTS18	MAK	PLCB3	KIAA1549	TINF2	CERS3	RPGR	ARL3	RNF113A	COL4A5	PTEN	PIKFYVE	CNGA1	LMBRD2	CEP78	RAX	P4HTM	JMJD1C	GTF2IRD2	CLDN16	NMNAT1	RHOA	GJB4	RNU4ATAC	KMT2D	SPINT2	TBX15	TGFB2	ARL2	KLRC4	COL5A1	PRDM12	POLR3A	KRT12	CDH11	PIEZO2	GATA1	PRPF4	NEUROD2	HUWE1	SOS2	RLBP1	JAM2	TRAPPC4	CRYBA4	JARID2	SERPING1	AHI1	SLC38A8
HP_MICROCORNEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROCORNEA	MAF	B9D2	PLOD1	ZEB2	HDAC8	B3GALT6	PAX6	KDM6A	B3GALNT2	GJA8	RAD21	MIR184	ANK1	TMEM216	NIPBL	RSPO2	DPYD	RAB3GAP1	OTX2	BCOR	ACTB	NDP	CTCF	PXDN	HSPG2	EBP	RECQL4	DAG1	CRYBB2	RBP4	RAB3GAP2	TCTN2	CRYGC	ACTG1	ERCC3	RXYLT1	TENM3	TBX22	UBE3B	PRR12	MPLKIP	FKRP	BRD4	TUBB	CENPF	MAPRE2	BMP4	RAB18	B9D1	CSPP1	CTDP1	ADAMTS18	CRYAA	TMEM237	NHS	HMX1	SALL4	RAB23	RAI1	TCTN3	RNF113A	POMGNT1	ERCC6	GTF2E2	FANCB	FKBP14	LARGE1	TBC1D20	GORAB	TXNDC15	POMK	TCTN1	ERCC8	ERCC2	SC5D	KRAS	TFAP2A	SMC3	POMT1	MAB21L2	MED25	FLI1	ATOH7	FLII	TBL1XR1	FKTN	COL4A1	FZD4	CEP290	PLK4	FOXL2	CRYBB1	DEAF1	KIF11	CRPPA	KMT2D	LMX1B	FGF3	CHST14	TMEM107	GJA1	TBX15	B4GAT1	NAA10	CRYGD	TMEM67	RPGRIP1L	PITX3	PITX2	ARL2	POMT2	MKS1	POMGNT2	PRSS56	B3GLCT	GTF2H5	HMGB3	CC2D2A	TARS1	RPGRIP1	JAG1	FOXE3	IQSEC2	BEST1	PYCR1	WNT3	MAFB	SLC16A12	CHN1	SMC1A	CRYBA4	TMEM231
HP_ASTIGMATISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASTIGMATISM	CHD3	NTNG2	ZMIZ1	MYO1H	TBCE	TGFBI	TRMT1	CCDC28B	RAD51	SMG8	HK1	MIR184	KDM4B	KIDINS220	FANCC	PSMD12	MED13	DOCK3	YY1	MED27	SLC39A8	CLCN3	ERCC3	FANCF	EXOSC5	ERCC4	MPLKIP	FANCD2	C1QBP	GPR143	AGBL5	FIBP	FANCI	EBF3	LMX1B	ARCN1	GTF2E2	ACTL6B	TNPO2	SCUBE3	TNRC6B	COL1A2	KAT6A	EDEM3	EMC10	KDM5B	FANCL	DPYSL5	DPAGT1	BBS1	NSD1	TANC2	PIGT	CHD4	PTPN23	PACS2	CHMP1A	TRIP12	DDX6	TYR	BCAS3	SMARCAL1	PALB2	SETD2	SHOC2	MADD	MAPK8IP3	ARL6	KCNMA1	MAD2L2	MAG	PALS1	ZEB2	FANCA	CACNA1F	FANCG	SLC4A11	GRHL2	DSE	TCF4	FBXW11	WDFY3	ACTL6A	WAC	BPTF	TBC1D7	TCF20	NIPBL	SETD5	BLOC1S3	GTF2H5	STXBP1	TARS1	POGZ	RERE	HARS1	BBS9	ARID1B	BCORL1	RLIM	GLRB	GALNT2	ERCC2	CLDN19	GNPTAB	PPP1R12A	KCNV2	FANCB	TRIM37	CCDC32	DYRK1A	COL9A3	SLC25A24	MYT1L	PRMT7	TUB	HS2ST1	CHST6	ANKRD17	ARSG	FANCM	APC2	SRCAP	ADNP	IFT172	SATB1	DPYD	ZEB1	H1-4	USP9X	BRIP1	SLC12A2	VARS1	PPP2R5D	HTT	COL8A2	UBR7	KMT2E	CC2D2A	UBE3B	SLX4	VSX1	KMT2B	GRIA4	DNAJC21	COL9A2	CLDN11	HPDL	OTUD5	RNF2	RNF113A	CHST14	MAN2B1	LMBRD2	RAD51C	FANCE	MBTPS2	CEP78	KRAS	TCF7L2	P4HTM	ARHGEF2	PUS7	CLDN16	SVBP	COL4A1	SYNCRIP	RHOA	COL9A1	UBE2T	LOXL3	KIF11	TEAD1	RNU4ATAC	AGO2	EMC1	MBD5	COL17A1	FBN1	INTS1	WASF1	ZFHX4	MT-TS2	TFE3	NFIX	FLNA	NTNG1	ANKRD11	SPTBN1	MAP3K7	PIEZO2	CNOT3	RFWD3	COL11A1	CLRN1	NEUROD2	HUWE1	COL25A1	PIGQ	CHRDL1	OVOL2	BRCA2	XRCC2	KAT8	SETD1A	TRAPPC4	AP3D1	BRCA1	AEBP1	PITX2	JARID2	POLR3GL	GATAD2B
HP_MEGALOCORNEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEGALOCORNEA	MAF	PIGG	MLXIPL	FKTN	GTF2IRD2	FGD1	COL11A1	FKRP	POMGNT1	VPS37D	CPLX1	ELN	BCL7B	TMEM270	GTF2I	PPP2CA	MT-CYB	NCF1	RFC2	FBN1	PIK3R1	LIMK1	POMT1	GMPPB	EIF4H	NELFA	GNPTAB	PITX2	FGFR2	FKBP6	KIFBP	CDH11	LETM1	STX1A	POMT2	TINF2	BAZ1B	TEK	CHRDL1	NSD2	POMK	METTL27	TBL2	CLIP2	CTBP1	BUD23	SH3PXD2B	LTBP2	GTF2IRD1	KCNMA1	DNAJC30	PRDM5	LARGE1
HP_RETINOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINOPATHY	SAR1B	COL11A1	IL12A-AS1	PIGG	AGXT	IDS	MYO5A	IL12A	KLF11	FGFR1	TMEM231	MT-TK	PDX1	HBB	HLA-B	STAT3	ABCC8	ALG8	DPM1	CDK4	INS	ENPP1	ERCC3	TLR4	CTLA4	TMEM107	SCO2	SURF1	IL10	HNF4A	PAX4	NELFA	PROS1	CDKN2B	INSR	POT1	LETM1	CREBBP	GCK	ERAP1	MAPRE2	C1QTNF5	BAP1	CTNS	MCOLN1	IDUA	HADHA	ERCC5	PEX7	TULP1	NSD2	MFSD8	MT-ATP6	BLM	NEU1	CTBP1	ATG7	TXN2	AP5Z1	MLX	CDH3	PANK2	IL12B	STAT4	UBAC2	KRAS	ABCC6	IFNGR1	MEFV	PLK4	NEUROD1	CPLX1	NOD2	C4A	PRTN3	MT-TL1	KCNJ11	PTCH1	HLA-DPA1	ERCC2	MGMT	ERCC4	NDUFAF1	MT-TE	APOE	KIF11	HLA-DPB1	MIA3	KLRC4	TRIM32	ALDH3A2	TUBB	CDKN2A	NDUFS2	CCR1	NDUFB8	BLK	TNFRSF11B	MITF	APPL1	CEP41	MTTP	HNF1A	IL23R	TERF2IP	ACD	GNPTAB	TINF2	CSPP1	NDUFAF3	FAS	MC1R	PHYH	TERT	CEL	PTPN22
HP_DEEPLY_SET_EYE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEEPLY_SET_EYE	RERE	SMAD4	ZEB2	TBCE	TBCK	CDKL5	SRCAP	TRIM8	HYLS1	TTI2	NOVA2	XRCC4	SNRPN	KIDINS220	TBCD	PRPS1	CTCF	LARP7	RARS2	MAPK8IP3	FBXO11	TMEM67	CDH2	HDAC4	KCNK4	AHDC1	PAK1	HMGA2	SATB2	TTC26	PUF60	ATAD3A	COX5A	CACNA1G	ODC1	PRKCZ	CTBP1	CENPF	TAFAZZIN	FIBP	SPOP	PRMT7	EBF3	UBE4B	SLC35A1	FBXO31	BRCC3	ALKBH8	GRIA3	GORAB	PPP2R5D	SALL4	KAT6A	NGF	BBS7	EDEM3	TOGARAM1	CRKL	HUWE1	ARNT2	THOC6	RAB3GAP1	KDM5C	WAC	STAT3	SMC1A	RALGAPA1	DIS3L2	TBL1XR1	TPRKB	COL3A1	KCNAB2	TBX15	CRPPA	NALCN	SHANK3	POU1F1	STIM1	NDP	COL5A1	OCRL	FBN1	SPTBN1	KNSTRN	ERCC6	TCF4	ALMS1	TCF20	DHPS	RAI1	ABL1	MMP23B	POLR3A	NF1	GPKOW	PDPN	ERCC4	DYRK1A	TMEM94	HDAC8	AGL	GSC	PRDM16	PLP1	GNB2	HS6ST2	JAG1	MEIS2	MAPK1	LAS1L	SLC9A7	CREBBP	MAFB	CHN1	ZPR1	GJA8	MYH3	RTL1	ANKRD17	SPEN	HSPG2	KMT2E	EEF1A2	DNM1L	COA3	LEMD3	OPHN1	DPYD	TRRAP	STAG1	PIK3CA	CRB1	BPTF	PHF6	FOXF1	UBE3A	GATAD2B	FARSB	SSR4	HECW2	SRC	PRR12	UGDH	CNOT3	BICRA	ZBTB20	PIGY	DCPS	PIK3R1	TAF1	MEG3	FMR1	RNF2	FARSA	MEF2C	SYNGAP1	SON	EPB41L1	ERCC2	CASZ1	TBC1D20	KIF7	MSL3	SLC9A6	ERCC8	GATA4	SIN3A	PLEC	COX8A	BCR	FLII	POC1A	DEAF1	IARS2	PIK3CD	LUZP1	IGF1R	HACE1	EMC1	MED12L	SEPTIN9	SETD1A	GJA1	HHAT	OSGEP	ASXL3	ATN1	PIGU	IPO8	PIEZO2	ORAI1	GJA5	EP300	PGAP1	NTRK1	AP1S2	PYCR1	PSMD12	DLK1	CARS1	GABRD	SKI	UBE2A	DPYSL5	PUS7	ERCC1	YARS1	PAK3	SH3PXD2B	CAMTA1	EIF5A	IQSEC2	PRKDC	CEP57	EXTL3	AGO2	TMEM237	WASF1	NFIX	ZC4H2	EXOSC2
HP_KERATITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KERATITIS	IKBKG	AIRE	IL12A-AS1	PLEC	IL12A	EPCAM	SREBF1	DDB2	IL6ST	TLR4	LBR	COL4A6	PAX6	BTNL2	MBTPS2	IL10	GSN	ERCC3	ZEB1	HLA-B	MPLKIP	GJB2	MAB21L1	ERAP1	ERCC5	CERS3	RNF113A	COL4A5	GTF2E2	WAS	WIPF1	FGFR3	RNF125	STAT4	ALOX12B	ERCC6	ERCC8	UBAC2	ERCC2	TGM1	NLRP1	ABCA12	XPA	UROD	IFNGR1	MEFV	CLTCL1	POLH	NOD2	CRLF1	ALOXE3	FGFR2	IARS2	C4A	TP63	FGF10	XPC	COL17A1	SCN9A	SLC35C1	HLCS	KLRC4	NTRK1	MTTP	NLRP3	UROS	PNPLA1	GTF2H5	CCR1	GATA1	TARS1	NIPAL4	IL23R	ERCC4	FAS	HLA-DRB1	GJB6	AEBP1	FBN1
HP_ABNORMAL_EYELID_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EYELID_MORPHOLOGY	KAT6A	ZEB2	RTTN	CLCN4	RB1	XYLT1	RRAS	COL1A2	RAC3	GPC3	CDC42	SNRPN	HSPG2	EXT2	WNT10A	RAB11B	NECTIN1	CDH2	SOS1	MED27	HDAC4	TCF3	FAM149B1	ERCC3	FANCF	ERCC4	FANCD2	MAB21L1	PAH	RBM10	GTPBP2	ODC1	FBLN5	USB1	IRF6	UMPS	SRCAP	ALOXE3	BBS5	CHRNG	FGF10	TBCD	CTC1	SLC39A13	MYCN	STIL	CEP290	NHP2	EMC10	PHF21A	LMNA	LTBP1	TNNI2	ARV1	CLP1	EHMT1	BBS7	TRIP12	MED25	DHODH	EDA	FANCC	LRRC8A	GMNN	NAA10	NRAS	IGHM	SMARCB1	GLI3	CENPT	COLEC10	EFEMP2	RMRP	ATP6V1A	MAD2L2	NALCN	ATP1A2	MED13L	FANCA	SETBP1	KMT2C	CLCN3	SMARCA4	NCDN	AP4E1	COPB2	FBXW11	DDX6	PIK3C2A	TCF20	FAM20C	BRAF	KREMEN1	RPL35A	MBTPS2	RTEL1	RPS26	NIPBL	CD96	FLNA	PEX12	UBA5	UROS	NUAK2	ZNF711	TARS1	POLA1	TONSL	SMS	ARID1B	RPS15A	WDR35	CSPP1	SEMA5A	SYT1	ALX3	RLIM	GATA1	KCNN3	ALDH6A1	GALNT2	MYT1L	HBB	APOE	ESS2	FIG4	OCA2	ZPR1	PKDCC	PBX1	DNMT3A	SPEN	RPL15	DYNC1I2	ADAT3	CHD8	RTL1	RAD21	EEF1A2	FAS	VPS13B	PNPLA6	TBX1	EGFR	VARS1	KRAS	LIG4	FGF20	OFD1	ZMPSTE24	ATAD3A	QRICH1	FRAS1	KIT	MCPH1	TENM3	ADAMTS3	PEX26	NDN	CDH1	PIGL	HPDL	RUSC2	SMARCD1	PEX5	GLIS3	HIBCH	HELLS	CSGALNACT1	STAC3	RAI1	DGCR2	MICU1	MAGEL2	BUD23	TERC	NIPAL4	WDR37	PMM2	FANCE	DNAJC30	GRIP1	TFAP2A	CHRND	RNU4ATAC	PUS7	TLK2	SPATA5L1	FLI1	SIAH1	ABCA12	TWIST2	SYNCRIP	TUBGCP2	DEAF1	SNRPE	TAPT1	AGO2	CCNQ	PPP1CB	RPS19	FGFR1	MASP1	PIK3R1	OSGEP	XPA	FRMD4A	TRIP13	EP300	DVL3	SPTBN1	NECAP1	CLTC	DOCK3	MAPRE2	YARS1	USP27X	PIGQ	ALG14	PLXND1	NDUFB11	HNRNPK	SOX5	PAX3	KAT8	ZNF81	ETFA	AFF4	ATP6V1B2	RECQL4	BRCA1	PYCR2	POLR3GL	KDM6B	APC	SUPT16H	HDAC8	RALA	PURA	IFT122	TGM1	KDM4B	AIP	G6PC1	SMOC1	SLC6A17	CTBP1	RYR1	CEP152	MEGF8	ACTG1	FGFR2	COL11A2	GSN	COL5A2	ZMIZ1	CACNA1G	ALG12	PEX7	TBC1D24	AMER1	ZNF148	GABRA2	DDB2	CYP27A1	LZTR1	SEMA3E	RIN2	CERT1	RPL5	TNRC6B	UFD1	SALL4	SEC24D	EDNRB	CCBE1	ATP1A3	CENPE	ITGA6	AP3B2	PIGT	FGF3	ASPH	DIS3L2	TFAP2B	CRIPT	KCNAB2	PPP1R15B	FHL1	NPM1	DMD	COG1	EDNRA	WASHC5	HCN1	OCRL	DSE	ACSL4	ACTL6A	PIK3R2	ITGA8	HLA-B	UBR7	CPLANE1	SETD5	MAP3K7	SHANK3	DDHD2	KLF13	GSC	NSUN2	MAPK1	PEX3	MED12	MUSK	ALX4	PAFAH1B1	FOXC1	SOX10	PQBP1	XPC	ANAPC1	CD79B	HS2ST1	PDE4D	AFF3	PEX1	CPLX1	SIX2	FGFR3	EFTUD2	PEX11B	AP1S1	H1-4	ABCA1	TRAF3IP2	SNAP29	ANKRD11	BPTF	SCN4A	LZTFL1	PGAP3	UGDH	CNOT3	KIFBP	TUBB	PEX6	SATB2	KIAA1109	KIF7	MPC1	TAF1	BAZ1B	MEG3	ADH5	DUX4	SLC19A3	EBP	WIPF1	ARX	ERMARD	PLK4	BBS10	SIN3A	GPR101	ATP6V0A2	UBE3B	CTCF	PDE6D	TYR	NOP10	POLH	UBE2T	NBN	BBIP1	FERMT1	UBE3A	CHST14	PTCH1	MED12L	WDPCP	C12orf57	ZNF292	ASXL3	UPF3B	ATN1	INTS1	RPS6KA3	PTEN	JUP	TTC8	SEC31A	NFIX	ZMYM2	RPL31	TRAIP	SF3B4	NSD1	RFWD3	ANKLE2	DLG3	CCDC115	B3GLCT	DGCR8	TSR2	ERCC2	TOE1	IQSEC2	DDX11	CLIP2	ADAM17	GTF2IRD1	OTUD6B	CEP55	SPECC1L	TRIO	HCFC1	ADAMTSL2	DALRD3	CWC27	SZT2	FLCN	XPNPEP2	TTPA	HK1	KANSL1	CCDC88A	ABCC9	PREPL	GTF2I	MITF	ZNHIT3	DOCK6	PEX19	NTRK2	AHDC1	HCCS	GPC4	MPLKIP	COX5A	IFT27	LETM1	CANT1	MAN1B1	FIBP	YY1	CD28	FTSJ1	BRPF1	LRP2	COLEC11	RNASEH2C	TBX6	NEK1	ZSWIM6	SLC25A24	PACS2	TBCK	SMC1A	MAPK8IP3	MRAS	HNRNPU	BUB1B	WDR4	WDR73	CACNA1A	ARID1A	SLC3A1	MYOD1	TMEM107	MKRN3	RPS10	TASP1	GJA1	PTCH2	ATRX	AUTS2	PIGV	PRDM16	CHD7	FRG1	KIF14	MTOR	VPS53	PIGN	HOXB1	IGLL1	NSD2	COL11A1	SLC45A1	CCDC32	FAT4	TBL1XR1	PRMT7	CAMTA1	HBA1	FGD1	COL1A1	CAMK2G	RERE	TRRAP	USP9X	DOLK	RAB3GAP2	FGF5	KCNH1	KCNA2	CLDN1	PIEZO1	SIM1	STEEP1	PRR12	GJB2	KIAA0753	ELN	MYMK	SLC39A4	ERCC5	ATR	KCNJ2	SMARCC2	PGAP2	FOXP1	SDR9C7	ETFB	PLCD1	ABHD5	BLM	AP3B1	FRMPD4	NONO	RPL21	ZBTB20	RAD51C	CDK10	CDH3	FREM1	NR2F1	TCOF1	PCNT	BMPR1A	RPS24	UROD	SMARCA2	CCND2	SPOP	MAF	KAT6B	DNM1	SASS6	SMO	PIK3CD	WNT9B	COG6	CYP4F22	ADAMTS2	SEPTIN9	HHAT	CFAP418	TRPS1	APOA2	B4GALT7	ZNF462	POLR1B	RDH11	SKI	PIGO	PYCR1	SATB1	UBE2A	COL25A1	TERT	CHRNA1	BRCA2	DYNC2H1	TBX2	NXN	AFF2	CEP57	AKT1	EDARADD	GATAD2B	GNPTAB	FLNB	NOTCH3	MLXIPL	GDF11	MOGS	PLOD1	ARID2	ROR2	ZBTB18	SMAD4	ASPM	CNOT1	MCTP2	CD79A	GPRASP2	IFT172	ZNF41	PITX2	KCTD1	GJC2	DGCR6	CAMKMT	PLEC	VPS33A	VAC14	LPAR6	PGM3	PUF60	ALOX12B	BBS9	CEP135	KMT2D	RBPJ	ALDOA	CARD14	NUS1	NF1	UBE4B	SCN8A	ARVCF	SUZ12	CREBBP	PHOX2B	NOTCH2	HUWE1	DSP	IDH1	CNKSR2	ERCC6	MPDZ	TANC2	TP63	MAB21L2	IFT74	RNASEH2B	FZD2	SOX4	LIPH	DKC1	BCAS3	SHOC2	TBX15	RPS20	BMP2	FBN1	RAC1	PTPN22	MMP23B	IFT43	KPTN	PIK3CA	NSDHL	SOX18	GTF2H5	MGAT2	HS6ST2	DACT1	MEF2C	RPL26	IFT57	CHN1	TRAF7	SAMHD1	HRAS	STAG2	WWOX	DSC3	ADNP	MVK	ALX1	FGFRL1	KRT81	CTNND1	RIPK4	BBS12	ANK1	CCNK	FBXL4	DYRK1A	DPYD	STAG1	IKZF1	MAP2K2	BRIP1	EXOC8	PPP2R5D	PEX10	LONP1	DPF2	SOX6	GHR	APCDD1	ATRIP	SETD2	RNF135	STX1A	NDUFS4	SCARF2	CCDC22	DOK7	TRAK1	RAB23	COL3A1	EFNB1	RPL11	ALG13	DHCR24	PIEZO2	MINPP1	JMJD1C	MAFB	SHROOM4	BCR	GTF2IRD2	FOXC2	TCTN3	MSMO1	PTPN11	KRT86	FGF12	LUZP1	MC1R	TRMT10A	SETD1A	HOXC13	MID1	B9D2	TGFB2	COL5A1	EZH2	EPS8L3	PIGA	SPINK5	GABRD	CDK5RAP2	LSS	SOS2	IFT80	PPP1R21	NPHP1	DNMT3B	PRKAR1A	HR	TREX1	ALG2	ACOX1	ITGB4	JARID2	NTNG2	UNC80	EED	BRAT1	DOCK7	CKAP2L	RIT1	LARP7	EIF4H	PIGW	GREB1L	APOB	CTU2	TTC26	PRRX1	LIFR	MYLPF	SLC2A10	TWIST1	EBF3	RSPRY1	RAPSN	RPL10	PACS1	CEP19	ESCO2	SNAI2	CRKL	PCLO	SLC6A9	CNTNAP2	SC5D	LRP4	IFIH1	SMC3	TBX4	CHST3	PTPN23	KATNB1	SNX14	TPRKB	ALDH1A3	GJB6	FREM2	POU3F3	POLR1D	PHF8	COPB1	RPL27	WNT7A	KNSTRN	KDM6A	CHAMP1	PSPH	WDFY3	PDGFRB	DYNC2I1	TELO2	WDR62	MRPL12	JAG1	MEIS2	BCORL1	METTL27	NPAP1	DHCR7	GABRB2	PPP1R12A	TMCO1	PEX16	ABCA5	CENPJ	PDHX	ZIC1	TRIM32	KRT83	ADAR	TENT5A	C2CD3	SLC1A2	MAN2B1	CIT	DHX30	NGLY1	AARS1	COG8	KMT2E	BMP1	FKBP6	PIGB	BRD4	MECP2	RAB18	ACTL6B	LDLR	OTUD5	MKKS	CAMK2A	TGFBI	SH3BP2	BCOR	MSL3	PUS1	TCF7L2	MLPH	PHIP	BCL11B	PEX14	IGBP1	GNE	CLTCL1	VPS37D	KIF11	GABRA5	FDFT1	IGF1R	ZIC2	TCF4	DSG4	PHF6	TFE3	EIF2AK3	SALL1	GATA2	GON7	LIPN	SNORD115-1	PIGU	DYNC1H1	SLC29A3	PARS2	PGAP1	TUBB3	YWHAE	AHI1	ORC6	XRCC2	THOC6	KCNE5	ACTB	ST14	RNASEH2A	SVBP	EXOSC2	PIGG	AKT3	XRCC4	NOVA2	ETFDH	INPP5E	DONSON	ZBTB24	RAF1	SPRED1	PPP1R17	NUP188	ANTXR1	TBX22	TRMT1	RPS28	PRKCZ	VPS51	DCHS1	CTDP1	UGP2	RPL35	DLX4	KNL1	PPP2R1A	NEXMIF	WAS	EDEM3	ORC1	SLC37A4	HIRA	METTL5	PALB2	APOA1	CBL	ATP6V1E1	FANCG	MKS1	PITX1	HERC1	PDPN	TSPAN7	KRT85	SEC24C	CDCA7	SLC9A7	ANKRD17	TUBGCP6	MYH3	KCNK9	APC2	EXOSC1	ALG3	IL1RAPL1	GAD1	SYNGAP1	TMEM216	SREBF1	NUP85	KIAA0586	MAP2K1	CELF2	KMT2A	GPC6	KITLG	SLX4	ANKH	DNAJC21	PIGY	HBA2	RNF2	GABRG2	SMCHD1	SCAPER	MIR140	RRAS2	MFSD2A	CHD1	CUL4B	ARHGEF2	CTLA4	FLT4	PCGF2	YARS2	FOXL2	LPL	KCNJ8	HERC2	DENND5A	STRA6	SOX11	DLK1	PEX2	BBS2	KRT25	ALG9	WASF1	FGF13	SLC35C1	EDAR	CTNND2	TTC37	PTCHD1	SON	TINF2	RPS29	GRIA3	DHDDS	TXNL4A	RREB1	MN1	TMEM237	NCAPD3	SH3PXD2B	PCSK9	HRURF	DVL1	CHD3	TGFB3	COMT	RAD51	DPM1	AMMECR1	NCF1	LMNB1	SCN3A	FBXO11	KDM1A	RPS23	TOR1A	NELFA	POLR1C	RPL18	SDCCAG8	KIF21A	CEP63	GTF2E2	MADD	FANCL	DPYSL5	YWHAG	SLC26A2	FOXG1	GLE1	PHGDH	TUBGCP4	CHD4	WAC	RHOBTB2	KCNMA1	MTX2	ARHGEF6	TNFRSF1B	BCL7B	KCNB1	SYNJ1	SLC17A5	TOPORS	GPKOW	UQCC2	PPM1B	TSPEAR	NARS1	SMARCE1	IFT52	BRF1	EDN3	ERF	FANCB	GRIN2D	SNRPB	AMPD2	CDK13	MAP1B	FANCI	COA3	ASXL1	DDR2	AP1G1	SLC12A2	RFC2	LDHD	LTBP3	BICRA	SPRED2	SMPD4	GRIA4	CASK	CNTNAP1	RAB39B	REV3L	NBAS	LRP1	ADARB1	CYFIP2	FLII	HNRNPH2	AGTR2	RBMX	WNT5A	SLC13A5	KIF1A	ADA2	BUB1	SETD1B	ZFHX4	NTNG1	EXOSC9	KRT74	COX7B	PNPLA1	EPHX2	PSMD12	ERCC1	GP1BB	GBA	PAK3	SNORD116-1	KAT5	SRY	VPS35L	ABAT	SOX9	TYRP1	MED13	GDI1	LIMK1	BLNK	CNOT2	KCNK4	NFIB	KANK2	RPS17	RPS7	HSD17B4	CHRNA7	ZNF469	LMX1B	CDK6	CDH11	KDM5B	RNF125	CDK19	TAF6	RPS27	DDB1	ZNF699	C12orf4	RET	SLC35A2	POLR1A	PALS1	NANS	TRAPPC9	POLR3A	SYP	KIF15	PTH1R	ZNF407	STXBP1	TRAPPC14	CACNA1B	GNB2	WDR19	CST6	BUB3	TBL2	PWAR1	RBBP8	PARN	RIC1	EXOC2	QARS1	VAMP1	RASA2	FANCM	CHUK	DPH1	LMBRD1	TMEM270	PPP2CA	NECTIN4	DYNC2LI1	BBS4	NCAPG2	BBS1	PEX13	DYNC2I2	HTT	HECW2	B3GAT3	PPP3CA	KDM5C	MID2	ADAMTS18	BCL11A	COL18A1	CERS3	RNF113A	CASZ1	ARL3	LMBRD2	P4HB	HIC1	ITGA3	DMXL2	GATA4	RAX	TAF13	ARL6	RHOA	SUFU	SPART	KCNJ5	BANF1	ATP7A	PWRN1	SULT2B1	TBR1	BMPER	IPO8	ZC4H2	PHC1	CSNK2A1	WRAP53	COG7	EIF5A	TRAPPC4	BGN	AXIN2	DHX16
HP_ABNORMAL_FOVEAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FOVEAL_MORPHOLOGY	IKBKG	DCT	GDF6	IDS	PAX6	TYR	MC1R	GNAT2	ATF6	CNGB3	APOE	GPR143	RAB28	TLCD3B	BLOC1S5	PROM1	CACNA1F	RBP4	OCA2	CFHR1	HPS4	CNGA3	SLC45A2	HPS5	PRR12	GDF3	BLOC1S3	PRPH2	ELOVL4	UGP2	CFHR3	SLC24A5	HMCN1	RLBP1	ABCA4	RHO	MFRP	WT1	CFAP418	NEU1	RPGR	RDH5	IMPG1	AP3D1	PDE6H	PDE6C	CTNNA1	HPS6	SLC38A8
HP_DOWNSLANTED_PALPEBRAL_FISSURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DOWNSLANTED_PALPEBRAL_FISSURES	RERE	RAF1	TGFB3	OFD1	NTNG2	COMT	UNC80	COLEC10	ZMIZ1	ZEB2	SZT2	EED	FLCN	TRMT1	CLCN4	BRAF	MGAT2	RRAS	DPM1	GPC3	CKAP2L	CDC42	AMMECR1	RIT1	ACTB	EZH2	PAX3	EBP	ROR2	DOCK3	SCN3A	FBXO11	KDM1A	RYR1	YY1	CDH2	SOS1	PYCR2	MED27	NTRK2	TWIST2	AHDC1	NELFA	POLR1C	SATB2	SDCCAG8	GPC4	PRRX1	LRP2	IFT27	ODC1	LETM1	MAN1B1	FIBP	DSE	UMPS	SLC2A10	BBS5	CHRNG	EBF3	FGF10	RAPSN	SLC39A13	IFT74	PACS1	BRPF1	SLC29A3	ACTL6B	CHD7	CEP290	CEP19	ESCO2	EMC10	COLEC11	DPYSL5	YWHAG	CNTNAP2	FOXG1	SC5D	LRP4	CHD1	TNNI2	SEMA3E	CHST3	GLE1	MID1	ZSWIM6	ARV1	SLC25A24	PTPN23	PACS2	BBS7	TRIP12	MED25	SMC1A	DHODH	GMNN	NALCN	NAA10	RECQL4	GLI3	EFNB1	CENPT	CPLX1	MAPK8IP3	MRAS	POLR1D	EFEMP2	BUB1B	KCNMA1	ATP6V1A	ATP1A2	ARHGEF6	SETBP1	CACNA1A	SKI	MYH3	KCNB1	CLCN3	COL5A1	MYOD1	IQSEC2	HRAS	AP4E1	FBXW11	WDFY3	SYNJ1	FGFR2	WAC	FAM20C	PDGFRB	KCNN3	BPTF	TCF20	TASP1	FLNA	UBA5	ZNF711	TSPEAR	SEMA5A	ARID1B	MTOR	BCORL1	NXN	RLIM	ALDH6A1	GALNT2	GABRB2	CREBBP	COL11A1	CEP57	RPS6KA3	SLC45A1	GRIN2D	FGFR1	CCDC32	DVL1	USP9X	AMPD2	AKT1	MYT1L	CAMTA1	HBA1	PKDCC	ABCA5	CENPJ	SPEN	FGD1	ZIC1	CHD8	EEF1A2	TRIM32	SMARCA2	VPS13B	TBX1	SLC1A2	SLC12A2	RAB3GAP2	KRAS	KCNA2	AARS1	LDHD	UBR7	KMT2E	DLG3	PRR12	BICRA	TNRC6B	SPRED2	MYMK	SMPD4	TMCO1	GRIA4	NSD1	CASK	HPDL	ATR	STAC3	OTUD5	CSGALNACT1	MKKS	RPS19	FOXP1	CAMK2A	SON	FRMPD4	CTBP1	RAB39B	ZBTB20	CDK10	MSL3	TCOF1	TCF7L2	PCNT	KIF7	PUS7	SPATA5L1	BMPR1A	FLI1	SIAH1	KCNH1	IGBP1	CYFIP2	SYNCRIP	SPOP	AGTR2	TRIO	MAF	RAI1	WNT5A	KIF11	SLC13A5	KAT6B	PPP1CB	EP300	DNM1	GABRA5	AGO2	MASP1	OSGEP	DHCR24	BUB1	SETD1B	CFAP418	RNF2	TFE3	DYNC1H1	ZNF462	NTNG1	CNKSR2	PARS2	POLR1B	RDH11	TRIP13	SPTBN1	NF1	NECAP1	ASXL3	SETD5	PYCR1	PSMD12	CLTC	SATB1	CNOT3	MAPRE2	ATP6V0A2	USP27X	TAF1	ORC6	SOX5	KAT8	KCNE5	SETD1A	ZNF81	KMT2A	OTUD6B	GP1BB	PAK3	MECP2	AFF4	ATP6V1B2	RIN2	YWHAE	AP3B2	NFIX	FBN1	PTPN11	NOTCH3	KAT5	APC	PIGG	SUPT16H	VPS35L	ABAT	PLOD1	PURA	NOVA2	NRAS	KDM4B	SMOC1	IFT172	ZNF41	MED13	GDI1	SPECC1L	CEP152	FTSJ1	SPRED1	ACTG1	NFIB	COL11A2	BBS9	ZMPSTE24	NUS1	PTEN	ZNF148	GABRA2	LZTR1	NSD2	SCN8A	BMP2	ARVCF	PPP2R1A	NECTIN1	SUZ12	NEXMIF	SLC9A7	PPP2R5D	PHOX2B	CDH11	NOTCH2	UFD1	EDEM3	KDM5B	HUWE1	SEC24D	IDH1	ATP1A3	CDK19	MPDZ	CENPE	TANC2	ARID2	ADNP	NONO	FGF3	ASPH	FZD2	DDX6	TFAP2B	POLR1A	HIRA	LMNA	CHRNA7	BCAS3	SETD2	PPP1R15B	SHOC2	FHL1	MADD	ACSL4	DMD	CBL	PALS1	COG1	WASHC5	HCN1	MKS1	TUBB3	ACTL6A	POLR3A	KPTN	PITX1	SYP	KIF15	PIK3CA	HERC1	MAP3K7	FGFR3	GSC	TSPAN7	CACNA1B	HS6ST2	PEX3	SOS2	MED12	SEC24C	BUB3	MAPK1	PAFAH1B1	RBBP8	HS2ST1	ANKRD17	RASA2	WWOX	APC2	SRCAP	IL1RAPL1	DHCR7	GAD1	MVK	SYNGAP1	BBS12	FBXL4	DPYD	NUP85	DPH1	MAP2K1	CELF2	SNAP29	DYNC2LI1	BBS4	BBS1	HNRNPK	HTT	ATRIP	LZTFL1	B3GAT3	EFTUD2	PPP3CA	RNF135	KIFBP	MAP2K2	MID2	TSR2	DNAJC21	DVL3	HBA2	BCL11A	DOK7	TRAK1	GABRG2	CHST14	SLC19A3	ADAMTS2	SCAPER	ARX	RRAS2	ALG13	PLK4	BBS10	LMBRD2	P4HB	CUL4B	STEEP1	DMXL2	GATA4	SIN3A	JMJD1C	ARHGEF2	RNU4ATAC	CCDC22	SVBP	ARL6	AUTS2	BBIP1	SPART	FGF12	ATP6V1E1	UBE3A	BBS2	RPS28	PTCH1	ATP7A	MED12L	TRMT10A	WDPCP	C12orf57	UPF3B	WASF1	FGF13	TTC8	TBR1	TGFB2	GJA1	ZMYM2	TRAIP	CTNND2	TTC37	SF3B4	PTCHD1	CCDC115	DHDDS	SH3PXD2B	NPHP1	EIF5A	RREB1	MN1	TMEM237	TRAPPC4	ALG2	DPF2	BGN	CWC27	JARID2	HCFC1	DALRD3
HP_RECURRENT_CORNEAL_EROSIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_CORNEAL_EROSIONS	TGFBI	NTRK1	GJB2	MPV17	FGF10	KRT3	FGFR3	MBTPS2	FOXC2	COL17A1	CHST6	FGFR2	ELP1	CTNS
HP_BLEPHARITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLEPHARITIS	DKC1	XPA	HDAC8	UROD	RAD21	NOP10	SREBF1	MSMO1	NPM1	NIPBL	DDB2	ADAM17	USB1	TRAF3IP2	TP63	EGFR	ERCC3	MBTPS2	APOE	RTEL1	UROS	BRD4	GJB2	SLC39A4	GATA1	ERCC5	TINF2	WRAP53	TERT	GJB6	PIGN	CTC1	PLCD1	PLXND1	ERCC4	ERCC2	CST6	WAS	WIPF1	ST14	TERC	NHP2	REV3L	PARN	XPC	SMC1A	SMC3	TBX4
HP_ABNORMAL_EYELASH_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EYELASH_MORPHOLOGY	EDARADD	MOGS	DKC1	HDAC8	ATP6V1B2	FGFR1	TYRP1	ARID2	ROR2	SRCAP	RIPK4	TWIST2	XYLT1	BRAF	MGAT2	RAC3	ABCC9	PREPL	FIG4	CTCF	HSPG2	MITF	EBP	LMNB1	WNT10A	FBXO11	MBTPS2	CAMKMT	RPS23	NECTIN1	CNOT2	KCNK4	VPS33A	KANK2	POLR1C	ANTXR1	HCCS	VAC14	LPAR6	PUF60	COX5A	MAB21L1	KMT2D	MAN1B1	GTPBP2	ODC1	VPS51	CANT1	ZMPSTE24	CTDP1	TP63	DLX4	KCNH1	SMARCA4	DSG4	CTC1	PACS1	UROS	LMNA	EPS8L3	CREBBP	FRMD4A	HPDL	NHP2	MADD	DOCK7	DSP	EDNRB	SLC6A9	TAF6	FRAS1	DVL3	DDB1	ZNF699	SNAI2	AP3B2	SMC3	TBX4	PLK4	PHGDH	TUBGCP4	CLP1	ORC1	MAB21L2	NOP10	SOX18	FZD2	SOX4	EDA	LIPH	SMARCB1	GJB6	SMARCC2	SHOC2	WDR35	NPM1	POLR1D	SOX10	RMRP	MTX2	SHANK3	ARID1A	EDNRA	SLC3A1	GJB2	SMC1A	BRCA1	PUS1	KDM6A	NF1	PTPN22	KREMEN1	KCNN3	POLR3A	RTEL1	NIPBL	SOX11	APCDD1	PPM1B	SMARCE1	ARID1B	FRG1	GNB2	DNMT3B	KRT85	STAG2	NXN	CST6	RNU4ATAC	RPL21	SMCHD1	EDN3	TMCO1	DVL1	PARN	ANAPC1	TUBGCP6	MAF	KCNK9	SPEN	DSC3	DHCR7	ALX1	KRT81	RAD21	CTNND1	CLDN1	KRT83	FAS	SMARCA2	DPYD	STAG1	DPH1	USB1	PNPLA6	MAP2K1	TENT5A	FOXC2	DOLK	AFF4	NECTIN4	FGF5	VARS1	RECQL4	EXOC8	PAX3	KMT2A	DPF2	KIT	LTBP3	BMP1	PRR12	BICRA	SLC25A24	BRD4	CDH1	MPLKIP	TSR2	RUSC2	SMARCD1	OCA2	EGFR	TAF1	COL3A1	RNF2	PLCD1	VPS13B	DUX4	FBN1	KRAS	BLM	NOTCH2	POLR1B	TERC	CDH3	LRP1	ITGA3	TCOF1	MLPH	ARHGEF2	COL11A1	GJA1	UROD	YARS2	SPOP	KCNJ8	WNT5A	EP300	KRT86	SNRPE	DENND5A	MC1R	BANF1	HR	EDAR	KRT25	HOXC13	ALX4	MED27	ASXL3	ZFHX4	MAP2K2	JUP	TRPS1	SLC35C1	SEC31A	KIF11	B4GALT7	KRT74	COX7B	NAA10	SPINK5	SF3B4	GATA1	TINF2	WRAP53	COL25A1	LSS	TERT	NDUFB11	OTUD6B	HRURF	AXIN2	CWC27
HP_GLAUCOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLAUCOMA	TIMP3	FAM50A	PROM1	FKTN	COMT	B3GALNT2	GATA1	CCDC28B	SKIV2L	STUB1	XYLT1	TRIM44	POMT2	KIZ	GTF2I	NEK2	BCOR	NDP	PEX3	NCF1	DAG1	EIF4H	CYP1B1	ALDH1A3	AGK	TGFB1	RPL18	SIX6	WFS1	IDUA	HCCS	OVOL2	IMPG1	MAB21L1	PITX2	CANT1	NHS	CRYBB3	LRP5	POMGNT1	LRAT	TREX1	SLC7A14	RNASEH2C	PCARE	PTCH2	KDSR	IFIH1	REEP6	SBF2	SMC3	CHST3	RAX	GNAQ	ZSWIM6	HGSNAT	FUT8	FZD4	CRPPA	BUB1B	ABCA4	STAT4	BCL7B	FOXC1	PEX6	RPL27	DDX58	PUS1	YAP1	COL4A1	PIK3C2A	RPL35A	RPS10	SPATA7	RPS26	FLNA	POMGNT2	GJA1	TTC37	PEX12	RPS15A	CRX	OTX2	WT1	PAX6	METTL27	BBS2	CREBBP	ARL6	CEP57	LTBP2	AKT1	PEX16	SMC1A	GUCA1B	CNGB1	CENPJ	PLOD1	CERKL	RPL15	RP1L1	RAD21	SLC25A4	CISD2	BDNF	NLRP3	ZNF408	ADAR	CA4	FAS	ELN	CLN3	TBX1	RFC2	PDE6G	MYOC	POMT1	MFRP	ADAMTS3	FBN1	PRR12	PEX26	DCN	FKBP6	VSX1	BRD4	COL2A1	IMPG2	RGR	AGBL5	TEK	CDHR1	GLIS3	MAG	PIK3R1	FKRP	RPS19	SCAPER	BUD23	TBC1D20	ASB10	PTPN22	ZNF469	OFD1	POMK	PRCD	EYS	DNAJC30	NOD2	PRPF8	PEX14	COL11A1	ATOH7	RPS24	ARHGEF18	VPS37D	EP300	FGFR2	PTCH1	ADA2	TUB	LMX1B	DHDDS	ARL2BP	PEX1	CBS	ADAMTS10	IFT172	CRYAA	PDE6B	BUB1	KIF11	PRSS56	IL2RA	TRIP13	ARSB	COX7B	CRB1	B3GLCT	ANKRD55	NF1	CHRDL1	PRDM5	NDUFB11	CFAP418	ADAMTS17	SEMA4A	ACVR1	GP1BB	RNASEH2A	HLA-DRB1	PRPF31	FOXE3	EXOSC2	OCRL	MLXIPL	SUFU	PRPS1	SRY	VCAN	HDAC8	USH2A	ATR	PRPF3	ESCO2	IFT140	NR2E3	BTNL2	RP2	CEP152	LIMK1	SLC4A4	RP1	WDR36	GSN	RPS17	RPS7	ANTXR1	RXYLT1	IMPDH1	ZMIZ1	LOXL1	RPS28	RRM2B	RPL35	ARVCF	RS1	RPL5	AHR	TKFC	LARGE1	FGFR3	UFD1	CCBE1	SOX2	RPS27	BBS1	ADAMTSL1	CENPE	IFT88	IDH3B	FAM161A	RNASEH2B	CRYBA2	HIRA	PDE6A	CD247	RPS20	KLHL7	DHX38	GJB3	WASHC5	FGF10	GRHL2	PEX19	DSE	PTPN2	ROM1	MYMK	RPE65	RDH12	PRPF6	COL18A1	NRL	IDH3A	OPTN	SEC24C	BUB3	TBL2	BEST1	RBBP8	MASP1	TOPORS	SNRNP200	NTF4	SAMHD1	MAF	DHCR7	B3GALT6	PEX11B	GMPPB	ZEB1	NIPBL	NUP85	FREM2	TMEM270	PXDN	FAT4	RECQL4	NCAPG2	PEX10	PEX13	IL2RB	COL8A2	ATRIP	RBP3	B3GAT3	PEX5	MAFA	PRPH2	SAG	STX1A	MAK	KIAA1549	GZF1	TWIST1	BAZ1B	COL3A1	RPGR	ARL3	RHO	RPL11	CHST14	POLG2	EBP	CNGA1	PLK4	MERTK	RPL26	PCNT	JMJD1C	GTF2IRD2	CCDC22	YARS2	ZNF513	RHOA	RP9	FSCN2	GJB4	TTC8	PEX2	B4GAT1	NAA10	TMEM98	PTEN	CLRN1	RPL31	TRAIP	CDH11	TULP1	ANKLE2	PRPF4	RPS29	PYCR1	TSR2	RLBP1	RREB1	CLIP2	SH3PXD2B	GTF2IRD1	RNU4ATAC	AHI1
HP_ABNORMAL_CONJUNCTIVA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CONJUNCTIVA_MORPHOLOGY	IL12A-AS1	IL12A	CTSA	ICOS	NLRP3	TKT	PCNA	ASAH1	CD79A	LBR	ERF	BTNL2	KRT10	BLNK	GNAQ	TCF3	VPS33A	GSN	PSMB8	ERCC3	SLCO1B1	HLA-B	MPLKIP	MAB21L1	USB1	ERAP1	TP63	MMP1	GALNT3	TNFRSF13C	DDB2	RAG2	SAMD9	UROS	GTF2E2	WAS	KAT6A	FGFR3	RNF125	STAT4	ERCC6	UBAC2	ERCC2	SMAD4	ERCC1	TFRC	SDHD	XPA	LRRC8A	MEFV	IGHM	DKC1	FGFR1	AP1B1	SDHC	SREBF1	GNAS	STX11	FGF10	XPC	SCN9A	ACVRL1	MBTPS2	IGSF3	PSMB4	CR2	FUCA1	GTF2H5	GJB2	BTD	CCR1	TARS1	PKHD1	DACT1	ERCC4	AKT1	IGLL1	PEX6	SLCO1B3	MASP1	LRBA	CD79B	USF3	PIGA	KRT14	FBN1	COL7A1	AIRE	SEC23B	ENG	PIK3R1	PLG	IKZF1	FERMT1	AP1G1	FOXC2	TLR4	ERCC8	DNASE1L3	IL10	CD19	PAX1	KRT1	TNFRSF1A	MAPT	PSMB9	SLC39A4	GDF2	ERCC5	GJB6	RNF113A	HMOX1	PTEN	WIPF1	RNF168	KLLN	KRAS	ANO10	ATM	PIEZO1	RAG1	NLRP1	UROD	IFNGR1	POLH	FGFR2	BTK	IARS2	C4A	NOD2	COL17A1	HLCS	SALL1	TNFRSF13B	KLRC4	MTTP	PIK3CA	SHMT2	GATA1	SETX	IL23R	SDHB	STX16	GLA	FAS	HLA-DRB1	AEBP1	PITX2	MANBA
HP_VISUAL_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VISUAL_IMPAIRMENT	NDE1	PROM1	IL12A	KAT6A	CACNA1I	LZTFL1	PDE6B	NCDN	ABCD1	OPA3	APOE	CDC42	MT-ND1	TCIRG1	FLVCR1	HSPG2	TGIF1	CEP41	RAB11B	MED27	LRP5	MICOS13	FANCF	ERCC4	COL17A1	FANCD2	MAB21L1	GTPBP2	TWNK	ISCA2	SMARCE1	MYT1L	RNF13	TRAF7	CHP1	LRAT	UNC119	EMC10	POLG	DIAPH1	STAT4	RIMS2	PEX5	OPN1SW	CDON	CC2D1A	CLP1	TRIP12	GLRX5	CNGB3	MT-ND6	HGSNAT	PDE6H	PUS3	SMARCB1	NLRP3	FZD4	CDH23	NDUFS8	CTNNB1	MAD2L2	SDHD	FANCA	GALC	TRIM44	SMARCA4	TCF12	IBA57	ASPA	YAP1	DHX37	FBXW11	CACNA1B	LYST	GRHL2	TCF20	CHAMP1	PRPF3	PEX12	BAP1	SIX3	DUSP6	UROS	EPCAM	OPN1MW	MTHFS	POLG2	CRX	PSAP	ARID1B	CSPP1	SYT1	GTPBP3	ABCA4	DISP1	RLIM	TERT	FGF8	GNB1	MT-CO3	PDGFB	SOX10	RDH5	ARL6	CNGA1	FKTN	DYRK1A	CACNA1F	PIK3CA	ALMS1	AIRE	ARNT2	MT-TF	MPL	RP1L1	PAX6	POMGNT1	PNPLA6	PEX11B	DCC	NDUFAF4	GNAS	FAS	RAB3GAP1	CFI	VPS13B	MT-TC	ARSA	FRAS1	TUBGCP6	PDSS2	TENM3	KIF14	PEX26	CEP290	DCN	COL9A2	HPDL	CYP4V2	AGBL5	SET	SMARCD1	SPATA5	REEP6	PEX16	MTRFR	GAS1	MICU1	PEX6	BUD23	DRAM2	NPHP3	FANCE	PRCD	DNAJC30	PDE6C	PUS7	SPATA5L1	MFF	WDR19	SNX10	SETD1B	LAMC3	SYNCRIP	CHN1	ZNF513	KCNJ13	FOXRED1	TUBGCP2	MYO7A	RCBTB1	TUBB2B	FAM161A	AGO2	DHDDS	SDCCAG8	EMC1	CBS	OSGEP	ADAMTS10	PIGT	COL18A1	ERCC8	PDHA1	FGF12	RAB11A	MT-TE	TRPM1	PITX3	FLNA	B4GAT1	PEX13	SPTBN1	FGFR2	TELO2	PROK2	TFG	YARS1	PIGQ	PRDM5	ZNF408	PLXND1	NDUFB11	KAT8	SEMA4A	AFF4	SAG	CDK8	FARS2	BRCA1	PYCR2	POLR3GL	IQCB1	UFM1	YIF1B	VCAN	GNAT2	MKS1	ATIC	MIR184	CFAP418	KDM4B	GNA11	TGFBI	KIF1A	SCO2	AIFM1	CEP164	STAG2	RP1	CRYGC	NSMCE2	GLB1	CC2D2A	GSN	PSMD12	MT-TW	ZMIZ1	TRAPPC9	TMEM216	GPR143	CFH	TBC1D24	DDX3X	HIKESHI	SDHA	MLH1	ARL2BP	CYP27A1	CERT1	TNRC6B	IMPDH1	NDUFAF2	TULP1	TPP1	SLC4A11	PLA2G6	GM2A	GABRB1	EIF2B2	TACSTD2	IFT88	RALGAPA1	CYP1B1	KCNAB2	PDE6A	MT-CO1	CIC	GLI2	KLHL7	SLC39A14	CLCN7	OCRL	PEX19	AHR	SELENOI	ACTL6A	ROM1	VPS11	HLA-B	SETBP1	SUFU	SHH	PRPF6	XYLT2	ACO2	CLN6	SLC24A5	PMS2	ZIC1	LONP1	PAX2	USH1C	ELOVL4	NODAL	HS2ST1	CNGA3	AFF3	PEX1	RSRC1	SRCAP	OPN1LW	FGFR3	ALPK1	SOX2	NDUFS3	GDF6	PITPNM3	GMPPB	TGFBR3	H1-4	CACNA2D4	BLOC1S5	NTRK2	FGF17	GNAT1	HSD17B10	ENG	SPTBN4	MT-TS2	DPP6	ATP1A3	GRN	PRPH2	PHGDH	WHRN	BAZ1B	GRM6	RFT1	NEU1	SLC19A2	SLC12A2	MT-ATP6	FBN2	PROS1	BEST1	MT-ND5	MERTK	RMRP	PANK2	HLA-DRB1	BTD	KDM5B	RBP3	GRIK2	RTN4IP1	OPA1	IDH3A	UBE2T	TRAPPC12	RP9	CRADD	FSCN2	TTC8	TAOK1	NDUFA11	OCA2	FBN1	ATN1	SLC24A1	CLRN1	COL2A1	MAN1B1	NDUFV2	NDUFA6	ESPN	ITGA2	RFWD3	EARS2	ADAMTSL4	CRB1	PCDH15	CA2	RD3	EIF2B3	SOST	CLIP2	GLYCTK	GTF2IRD1	AP3D1	TMEM67	DNM1L	CWC27	DCT	TSEN54	TWIST2	BRAF	HK1	KANSL1	MT-CYB	AP4B1	KIZ	CDH15	NDUFV1	FXN	GTF2I	CTLA4	TIMM8A	ZNHIT3	ERF	PRPS1	AHDC1	NMNAT1	HCCS	MT-TH	ACTB	NHS	FOXH1	SOBP	NDUFAF1	ADA2	MT-ND4L	LRP2	SALL4	NADK2	NDUFS1	MFN2	FDX2	TSFM	PLK4	GNAQ	TDGF1	MAPKAPK3	ABCC6	CAMK2B	DLD	TUBB4B	RPS20	MAPK8IP3	SREBF1	ZMYND11	RAB28	TLCD3B	TRAPPC2L	ARID1A	NDP	ASH1L	CHD7	COL8A2	NPHP4	HNMT	WDR26	TASP1	MMP19	IMPG1	SALL2	NPHP1	SLC25A4	MT-CO2	HARS1	FLRT3	PRDM16	POGZ	NAGA	RAB18	PIGN	PROKR2	SCN1A	POU3F4	NDUFAF3	CCDC32	ZEB2	FIG4	GATA2	FCSK	CNGB1	HEXB	FOXC1	ABCA1	RERE	POLR2A	PLG	IFT172	NDUFS2	CA4	TRRAP	SMCHD1	TLR4	ARL3	TGFBR2	COX7B	CFHR1	SLC25A46	EIF2B5	PRR12	KRAS	TYR	GJB2	RPGRIP1	CDH3	VSX1	ELN	SLC39A4	BMP4	RGR	KCTD7	CDHR1	TRNT1	FRMD7	FA2H	CEP78	AP3B1	CCDC141	LSS	TBC1D20	DYNC1H1	PPP3CA	RAD51C	EYS	PRPF8	NR2F1	TCOF1	GUCA1A	ARHGEF18	BBS2	PRSS12	COL11A1	UROD	IFNGR1	TBX1	RPGR	ATF6	PRTN3	ADAM9	EPM2A	BMPR1A	CLTC	CKAP2L	HEXA	FAN1	HLA-DPB1	RDH11	PIEZO2	CSNK2B	MTTP	ANKRD11	ANKRD55	SCN8A	COL25A1	AIMP1	CNNM4	SDHAF1	GUCA1B	IL23R	BRCA2	PRKDC	PHYH	GUCY2D	SARDH	AIPL1	SAR1B	LAMA1	MLXIPL	NDUFB9	SLC45A2	PLOD1	ARID2	CDKL5	LCA5	ITM2B	ZC3H14	TSEN2	PRPF31	SURF1	NR2E3	BTNL2	RP2	TACR3	ZEB1	PUF60	SARS1	FOXP1	NF2	LIM2	DLAT	DLL1	UBE4B	THSD1	RPE65	NDUFAF8	BBS1	SMAD4	AKT1	TANC2	MT-ND2	GRK1	CHMP1A	IDH3B	SOX4	DDX6	BCAS3	SMARCC2	TSEN34	MBD5	SMC1A	ST3GAL5	RAC1	SEPSECS	CUX1	KIRREL3	INPP5E	CTC1	PTPN22	MBOAT7	MMP23B	SOX3	GUSB	CACNA1A	TMEM98	COL7A1	KIF3B	CRBN	PMPCB	GRM7	PCYT2	NAA10	NRL	POMT2	KCNV2	VAMP2	RS1	MAF	ADNP	TNIK	LTBP2	SPEN	POMT1	IKZF1	CCDC47	ZIC2	BRIP1	PEX10	HESX1	DPF2	CLN5	AGBL1	STX1A	NDUFS4	THPO	GRIN2B	HADHA	EEF1A2	SFXN4	USH2A	TSPAN12	IMPG2	SPATA7	GTF2IRD2	ATOH7	CIB2	GJA1	GMPPA	OAT	KIF1C	CACNA1D	RNU4ATAC	CLCN4	LUZP1	LARGE1	MC1R	MAK	SETD1A	POC1B	ALG2	SH3TC2	COQ7	PRNP	CTNS	ARL2	KLRC4	KRT12	PRIMPOL	TTR	PIGA	MEN1	GABRD	SKI	GRIN2D	PRPF4	MT-TQ	SPRY4	TNFSF11	NEMF	NFIX	AP1G1	LRIT3	PITX2	JARID2	HPS3	AHI1	MALT1	GPR179	IL12A-AS1	NTNG2	DCPS	BRAT1	TBCK	CCDC28B	MSX2	POLA1	TAT	DOCK7	FANCC	PEX3	TRAPPC11	EIF4H	NYX	C1QBP	ERCC2	FH	ERAP1	CTSD	TWIST1	XRCC4	HMX1	ERBB4	PEX7	FGFR1	CASK	C19orf12	CYSLTR2	TREX1	SLC7A14	PCARE	CHST3	PTPN23	MTR	ERCC1	SRD5A3	FMN2	FREM2	POLR1D	SHANK3	STIL	RIMS1	HS6ST1	RAX2	KIAA1549	WDFY3	MMACHC	MTRR	NDUFB10	TUBB4A	PTCH1	COPB2	DEAF1	C1QTNF5	PDE4D	ARSG	TTLL5	GNB3	TUSC3	BCORL1	CD109	MT-TL1	PDXK	TIMMDC1	METTL27	BCOR	PGK1	PPP1R12A	NSUN2	TUB	CEP250	GRIN1	IDS	CERKL	GABRA2	NHLRC1	PIK3R2	USP45	BDNF	ATXN7	ITGA2B	VPS4A	APC	RBP4	HPS4	B3GALNT2	KMT2E	SLC52A2	MSH2	NDUFS7	FKBP6	PIGB	SYNJ1	TEK	POMK	ZFYVE26	SH3BP2	ASB10	ZNF469	PCDH12	TCF7L2	CABP4	PEX14	IGBP1	VPS37D	LOXL3	KIF11	C4A	FDFT1	UCHL1	ST3GAL3	KIF5A	CRYAA	TFE3	PIGU	MED23	TMEM138	PGAP1	SETD5	BBS5	ERCC6	TUBB3	AP4M1	PDE6G	XRCC2	MT-TK	PARS2	TNFRSF11A	NDUFB3	TCF4	CEP85L	SNRPN	IFT140	OSTM1	PHOX2A	ANTXR1	PRKCZ	VPS51	WARS2	GPAA1	FKRP	PPP2R1A	RGS9	PEX2	DOLK	ADGRV1	UBAC2	AFG3L2	SLC1A3	HLA-DQB1	VHL	PALB2	CRYBB1	CHM	FRRS1L	DHX38	TSEN15	HPS1	FANCG	NBEA	PIGS	FDXR	PTPN2	TMEM126A	NF1	RDH12	BLOC1S3	PDPN	TP53RK	CCR1	NDUFB8	TMEM126B	COQ2	ELOVL1	LINS1	PRRT2	UBE4A	EZR	COL9A3	SNRNP200	CHST6	ANKRD17	ALG3	ARHGDIA	SATB1	AMACR	KIAA0586	ZNF423	PANK4	PHF6	SDHB	RAB3GAP2	RHO	IL2RB	EFEMP1	SLX4	CREBBP	ANKH	CLN8	GDF2	PCYT1A	PIGY	WDR45B	SF3B1	EPRS1	TOPORS	JAK2	ARHGEF2	SLC45A1	SVBP	COL9A1	NOD2	KCNQ5	GP1BB	STX3	ALKBH8	SPG11	SLC35A2	WASF1	RORA	TMEM231	USH1G	COL4A1	OTX2	TIMP3	MAP3K7	SON	BRSK2	HLA-A	SYNGAP1	BCL10	GJB6	OGT	NUBPL	CHD3	TMEM237	CEP120	TRMT1	RAD51	DPM1	KIDINS220	LAMP2	NEK2	NCF1	LMNB1	DOCK3	MT-ND3	FOXL2	GABRB2	POLR1C	TRIO	MFSD8	NDNF	NDUFS6	RRAS2	USP8	CACNG2	ARX	ACTL6B	ARMC9	GPR101	FANCL	DPYSL5	AAAS	C12orf4	TUBGCP4	WAC	AKT3	IQSEC1	KCNMA1	SUCLA2	BCL7B	SMG9	TRPM3	AP4S1	HLA-DPA1	ACVRL1	BPTF	BIRC3	HPS5	SOX11	HKDC1	MED25	COL3A1	TUBA3D	CFHR3	AP4E1	NOTCH3	LMAN2L	TANGO2	ITPR1	FANCB	AMPD2	FANCI	PIGP	EIF2B1	EIF2B4	CLIP1	PRICKLE2	DDR2	MLH3	ENPP1	CLN3	RFC2	WASHC4	MYOC	CAMK2A	SMARCA2	UBR7	PRDX1	CARS2	PPT1	GRIA4	MAG	NAA20	TECR	SCAPER	FBXO31	CNTNAP1	RLBP1	EXOSC8	TK2	OFD1	REV3L	NBAS	CFAP410	ATP1A2	ADARB1	DTNBP1	RPGRIP1L	ATRX	METTL23	COG5	FN1	AIP	RNF2	ZFHX4	ANGPTL6	PEPD	EDC3	NTNG1	IL2RA	B3GLCT	CNOT3	CHRDL1	MARK3	GRIP1	MT-ND4	PQBP1	CACNA1E	TTPA	WDR11	NDUFA1	LRPAP1	PLEKHM1	SRY	NDUFAF5	RRM2B	PIGC	BOLA3	MT-TV	MED13	LIMK1	XYLT1	KARS1	CLCN3	MECR	HSD17B4	GDF3	FEZF1	CSF1R	CAPN5	ELMO2	SMO	SLC6A6	HPS6	MIR204	MCOLN1	MEFV	MED12L	SEMA3A	MADD	CD247	PALS1	SLC25A1	ITGB3	CLCN6	CLCN2	WT1	P4HA2	IL17RD	TTC5	EPB41L1	ANOS1	MFRP	PORCN	TBL2	LAMB2	CLCC1	MAFB	RIC1	ASNS	FANCM	LCAT	THOC2	COX6B1	TMEM270	PPP2CA	NCAPG2	IL10	HIVEP2	PET100	INVS	HTT	SUMF1	HECW2	B3GAT3	PMS1	UFSP2	GP1BA	IFT74	NDST1	SCN3A	MMP1	CASZ1	POLR1B	ERCC5	NUS1	LMBRD2	MTFMT	P4HTM	RHOA	MSH6	TP53	YME1L1	IKBKG	DOCK8	GATA1	LEMD3	NEUROD2	HUWE1	HMCN1	RGS9BP	OVOL2	TRAF3IP1	TRAPPC4	PDZD7	NARS2	SLC38A8
HP_TELECANTHUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TELECANTHUS	SNAI2	HRAS	KDM6B	MYH3	SOX10	FGFR1	EXOSC1	OFD1	CCNQ	COMT	COLEC10	ADAT3	ALX4	AKT3	PURA	PIK3R2	XRCC4	ETFDH	EFTUD2	KRAS	SPECC1L	NSUN2	DOCK7	H1-4	GPRASP2	MAP2K2	TBX1	C2CD3	ACTB	PITX2	ANKRD11	MITF	LIG4	FOXL2	C12orf57	PAX3	YY1	KMT2A	CDH2	ACTG1	VPS33A	TFAP2A	ZSWIM6	HECW2	UBE3B	KITLG	CREBBP	ANKH	KIFBP	ZMPSTE24	DSE	ADAMTS18	COLEC11	ZNF148	FLNA	STAC3	PIK3R1	OTUD5	FGF10	RAB23	ADH5	COL3A1	EFNB1	LMX1B	ETFB	ARVCF	GLI3	NOTCH2	ARL3	CDH11	MAP3K7	USP9X	UFD1	EDNRB	RNF125	IDH1	CDK10	MSL3	DVL3	NEK1	DDB1	SLC26A2	SNX14	JMJD1C	MID1	TLK2	IFT122	MAFB	SPATA5L1	TWIST2	PTCH1	KAT8	KCNH1	TBL1XR1	GJA1	NRAS	HIRA	CRIPT	CCND2	LMNA	SUFU	SPOP	TYR	ATRX	WDR35	HNRNPU	TAPT1	ZEB2	FBN1	SKI	CHST14	MYOD1	MASP1	HHAT	ALG9	ZFHX4	FGFR2	KCNN3	UBR7	PIGU	B4GALT7	PTH1R	ZMYM2	CHRNG	EBP	PTCH2	STXBP1	HDAC8	DDHD2	FGFR3	ANKLE2	GNB2	IFT43	COL25A1	PIGQ	KCTD1	PPP1R21	MUSK	SEC24C	RREB1	IFT52	ETFA	GP1BB	ERF	ATP6V1B2	FOXC1	RPS6KA3	NFIX	PQBP1	EDN3	FLNB
HP_PTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PTOSIS	ELN	LMNA	NTNG2	KAT6A	MYO9A	AGRN	ZEB2	PYROXD1	EED	RB1	PDX1	RRAS	CDC42	RIT1	RYR1	YARS2	KLHL41	FANCC	BCOR	MYF5	HSPG2	CHRNE	CHCHD10	CEP41	PIEZO2	TMEM67	SOS1	MED27	FANCF	NDUFA10	ERCC4	SUCLA2	TCF12	FANCD2	SLC25A4	C1QBP	PAH	BIN1	ODC1	RNASEH1	GCK	MT-TN	TWNK	MYF6	TWIST1	CHRNG	SLC5A7	SALL4	PEX7	BRCC3	PACS1	COLQ	LRP4	COL1A2	EMC10	POLG	TOGARAM1	SLC18A2	NDUFAF3	SLC6A9	SC5D	IFIH1	SMC3	SEMA3E	ARV1	PTPN23	SLC52A3	TRIP12	MED25	HPGD	SQSTM1	PHYH	SMARCB1	TH	SBF2	AEBP1	NDUFS8	CPLX1	COLEC10	GFPT1	NEFL	MAD2L2	NALCN	ATP1A2	SHANK3	FANCA	SETBP1	HS6ST1	SKI	CLCN3	PEX6	MTMR14	RPL27	SMC1A	PET100	HRAS	YAP1	CHRNA1	KDM6A	DHX37	FBXW11	WDFY3	RPL35A	PDGFRB	ECEL1	NDUFB10	TCF20	RPS26	NIPBL	UBA5	DUSP6	PDE4D	POLG2	ATXN3	SMS	ARID1B	RPS15A	RERE	ALX3	BCORL1	RLIM	WT1	TIMMDC1	FGF8	SLCO2A1	KATNIP	DHCR7	SOX10	GABRB2	CREBBP	PPP1R12A	MT-TL1	STAMBP	TMCO1	PEX11B	MYT1L	VAMP1	FAR1	PTPN22	RPL15	ZIC1	DNM2	LONP1	DBH	RAD21	NDUFV2	PABPN1	PIK3R2	COL13A1	BDNF	DCC	ADAR	NDUFA4	NDUFAF4	TBX1	SLC1A2	PEX13	KRAS	KCNA2	NGLY1	AARS1	COL25A1	INPP5E	MYPN	QRICH1	KMT2E	TENM3	UBE3B	NDUFS7	NDUFAF2	DPAGT1	CEP104	BRD4	SOST	MECP2	PIGL	FGFR2	HPDL	DGUOK	SMARCD1	ACTL6B	STAC3	PEX16	RRM2B	MICU1	ITCH	WFS1	NDUFA12	FANCE	TFAP2A	GLI3	TCF7L2	PUS7	TLK2	LGI4	FLI1	SIAH1	CNP	SYNCRIP	EP300	IARS2	GABRA5	AGO2	ARL13B	PTS	RPS19	KIF5A	MASP1	PHF6	MKS1	GNAI3	CSPP1	TFE3	KIF11	CNKSR2	PAX6	PARS2	TMEM138	ACTA1	SPTBN1	NF1	NECAP1	SETD5	CLTC	PROK2	TUBB3	ECHS1	PIGQ	AHI1	XRCC2	PLXND1	HNRNPK	PAX3	KAT8	SETD1A	ACTB	RNASEH2A	AFF4	SLC19A3	COX15	CDK8	BRCA1	KCNJ11	PTPN11	TCTN2	PIGG	NDUFB3	TPM2	HDAC8	ALDH18A1	RALA	PURA	MYL2	BCAS3	NOVA2	KDM4B	BRAF	DOK7	RAF1	SCO2	FOXRED1	CTBP1	SPRED1	DLAT	PHOX2A	ACTG1	CC2D2A	GSN	LRP12	KBTBD13	LIG3	ZMIZ1	FGD1	GATA3	SCN4A	TBC1D24	RPS28	CPLANE1	SDHA	MYH8	GABRA2	RPL35	LZTR1	CERT1	RPL5	TNRC6B	PEX5	FGFR3	UFD1	EMD	EDEM3	ATP1A3	TACO1	RAB3GAP1	ADNP	SYT2	DIS3L2	TFAP2B	HIRA	PALB2	CHAT	IREB2	CBL	MUSK	HCN1	FANCG	FGF10	PEX19	DDC	ACTL6A	ACBD5	UBR7	B9D1	NDUFB8	TMEM126B	SLC30A9	NSUN2	NDUFS1	MCM5	NRAS	SOS2	SEC24C	COQ2	MAPK1	NEB	TPM3	HS2ST1	IGF1	ANKRD17	MYH3	SRCAP	SYNGAP1	TMEM43	SIX2	NDUFS3	ESCO2	SATB1	NDUFB11	MAP2K1	CELF2	ZNF423	FOXC2	FGF17	TAB2	BPTF	COA8	KMT2A	NOTCH2NLC	RBCK1	NDUFS4	KITLG	SLX4	UGDH	KIFBP	MAP2K2	DVL3	COLEC11	ASXL2	GABRG2	RRAS2	MRAS	ARHGEF2	NOP56	ABCC8	HLA-DRB1	SVBP	RPGRIP1L	MED13L	HYLS1	TYR	FOXL2	UBE2T	UNC80	SUFU	NUTM2B-AS1	FBLN5	MED12L	NDUFA11	C9orf72	ARL3	WASF1	FGF13	PTEN	TMEM231	RPL31	NDUFA6	TK2	SYNE1	PEX12	RFWD3	ANKLE2	EARS2	RPS29	CCDC115	B3GLCT	MT-ND1	GRIA3	DHDDS	NDUFAF5	AK9	TSR2	RREB1	TMEM237	MID2	RBM8A	SPECC1L	NUBPL	DALRD3	SNAI2	TGFB3	COMT	OPA1	SZT2	CEP120	TRMT1	GATA1	GIPC1	RAD51	NDUFA13	PDHA1	GBA	KANSL1	DNM1L	INS	NDUFV1	MRPS34	ALG2	ROR2	DOCK3	SCN3A	ERF	MT-ND3	KDM1A	YY1	SUCLG1	NTRK2	TOR1A	NELFA	RPL18	TRIO	KIF21A	PREPL	MITF	COL2A1	TOP3A	SLC25A1	LETM1	NDUFS2	MT-TL2	MTRFR	NDNF	NDUFS6	ERBB2	SMARCA4	SURF1	BRPF1	NDUFAF1	CHD7	PEX14	SYNE2	ARMC9	EDN1	ATG7	TMEM216	MYO18B	FANCL	RNASEH2C	DPYSL5	YWHAG	FDX2	GLE1	MID1	ZSWIM6	CHD4	KIF1B	PLEC	LMOD3	SGPL1	SLC18A3	MAPK8IP3	KCNMA1	DARS2	WDR73	CACNA1A	KCNB1	MYOD1	AFG3L2	ARID1A	PEX1	SYNJ1	TMEM107	RPS10	MYH7	SLC17A5	SOX11	CHRNB1	MED12	NPHP1	HMGB3	FLRT3	ATRX	AUTS2	GFER	TSPOAP1	FLNA	SMARCE1	ZFHX4	NXN	KIAA0586	HOXB1	RAPSN	NSD2	FANCB	GRIN2D	CCDC32	FAT4	DVL1	CDK13	AKT1	FANCI	TGIF1	ATP6V1B2	ALG14	FGFR1	GPC4	FBXL3	PSAP	TUBB6	SLC12A2	EEF1A2	ERBB3	NDUFA9	RSPRY1	SMARCA2	PROKR2	LIG4	PRR12	GRM1	SPRED2	MYMK	GRIA4	SMARCC2	SELENON	FOXP1	FUS	CDH23	ABHD5	CCDC141	CNTNAP1	ACKR3	TBC1D20	ANO10	REV3L	RAD51C	MRPS28	CYFIP2	RPS24	SLC3A1	MAF	WNT5A	SLC13A5	CFL2	DNA2	PEX26	TCOF1	PPP1CB	DNM1	ADA2	LMX1B	SEPTIN9	CHRND	AIP	RNF2	SECISBP2	ZNF462	NTNG1	MTTP	PSMD12	CNOT3	NDUFA2	BRCA2	MARK3	GP1BB	AP3B2	WDR11	NOTCH3	NDUFA1	NDUFB9	PLOD1	ARID2	SMAD4	STAT3	SNAP25	HLA-B	MGME1	GPRASP2	APC	MED13	TACR3	TYMP	RPS17	RPS7	IER3IP1	KMT2D	PIBF1	TTN	ALDOA	NUS1	KCNH1	FEZF1	TCTN1	SCN8A	GMPPB	ARVCF	NDUFAF8	PAX7	KDM5B	HUWE1	SLC12A6	CDK19	MINPP1	RPS27	ZNF699	TANC2	MT-ND2	TP63	RNASEH2B	FZD2	SOX4	LAMB2	DDX6	CEP290	SHOC2	SEMA3A	MADD	RPS20	PALS1	FBN1	TET3	FHL1	SLC6A8	PLCB4	FARS2	P4HA2	IL17RD	ZNF407	CACNA1B	GNB2	NAA10	ANOS1	PEX2	PEPD	MAFB	CHN1	ADPRS	VCP	TRAF7	SAMHD1	RASA2	WWOX	FANCM	DCHS1	ALX1	FGFRL1	NDUFAF6	TARDBP	CCDC47	BRIP1	EXOC8	ZC4H2	PUM1	HESX1	DPF2	HTT	HECW2	CBY1	PPP3CA	ZBTB20	ATP6V1A	LIPT1	TRAK1	COL3A1	MTFMT	PUF60	RPL11	FAM149B1	LMBRD2	RPL26	JMJD1C	TBK1	MYH2	UBA1	FGF12	B9D2	PEX10	TGFB2	IPO8	VARS2	CSNK2A1	JAG2	MEN1	SF3B4	ZMYND11	SPR	SPRY4	COX10	EDNRB	IDS	TRAPPC4	TREX1	CAPN15	NARS2	JARID2	PEX3
HP_ROD_CONE_DYSTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ROD_CONE_DYSTROPHY	HYDIN	ZMYND10	SAG	DRC1	HSD17B10	SNRNP200	BBIP1	LZTFL1	CEP290	CCDC40	CCDC28B	ADGRV1	PEX1	ASPA	PDE6G	HK1	LRAT	BBS4	MT-ND3	GATA3	MERTK	PEX12	FLVCR1	DNAAF2	ARL6	PRPF31	TTC12	TMEM67	MT-ATP6	USH1G	PRPS1	BBS12	CFAP298	PEX7	PCDH15	CRB1	BEST1	SDCCAG8	BBS2	ODAD4	CTSD	C1QTNF5	LRRC56	GAS8	RP2	WARS2	WDR19	HMX1	RSPH1	DNAAF3	KLHL7	ARL2BP	TULP1	RPL10	CFAP418	PROM1	RPE65	CNGA1	OFD1	BBS7	SH2B1	PEX2	DPAGT1	NDUFA9	BBS1	IFT172	PEX5	SPEF2	FSCN2	AP3B2	DYNC2I2	DNAH1	IQCB1	NPHP1	ATXN2	SLC35A2	MAPKAPK3	PCARE	DNAI1	PHYH	RSPH3	MCIDAS	SRD5A3	FDXR	PDE6B	PDZD7	CFAP300	TRNT1	AHR	RSPH9	SLC7A14	MDH2	ACBD5	PMM2	DNAAF1	PRPF3	ABCA4	TTC8	KIF3B	USH2A	IFT140	ODAD3	HGSNAT	TELO2	POGZ	BBS9	MFRP	DNAJB13	PANK2	SEMA4A	CLDN19	MT-TW	USH1C	RPGR	CDH23	APOB	DNAAF6	PEX16	DHDDS	MT-ND1	ROM1	MT-TL1	GGCX	NEK2	PEX11B	DNAH5	NPHP4	KIZ	STK36	DHX38	CLN3	DNAAF11	ARL3	SPAG1	AIPL1	ODAD1	IFT27	DNAL1	GRK1	CCDC39	CCNO	IDH3B	IMPDH1	RHO	EYS	PRCD	KIF5A	CLRN1	PRPH2	FOXJ1	MKS1	RP9	DNAAF4	IFT74	DNAAF5	RSPH4A	PRPF8	WHRN	MT-TK	REEP6	DNAH9	CCDC65	COQ2	TOPORS	PEX6	IMPG2	TRAF3IP1	PDE6A	PRPF4	ALG6	DNAI2	MT-TV	CIB2	MYO6	HSPD1	ZNF513	RBP3	MT-ND2	PEX14	MYO7A	GAS2L2	NR2E3	FAM161A	PEX10	CCDC103	CNGB1	PPP2R3C	BBS10	PEX3	MAK	MT-ND4	ODAD2	CERKL	ABHD12	MT-ND6	ARL2	PEX26	CFAP410	CRX	RDH11	MTTP	NEK10	PEX13	PEX19	ACOX1	BBS5	RP1	CDHR1	RLBP1	GUCA1B	MT-ND5	PRPF6	NRL	ZNF408	DNAH11	BCS1L	RGR	NME8	MVK	MKKS	CWC27	CFAP221	EXOSC2
HP_VERTICAL_SUPRANUCLEAR_GAZE_PALSY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERTICAL_SUPRANUCLEAR_GAZE_PALSY	NOP56	MAPT	VPS13A	CCDC88C	SQSTM1	ATXN1	POLR3A	AASS	DLAT	POLG	ATP13A2	DCTN1	ACOX2	SPG7	NPC1	KCNC3	NPC2	TWNK	ALDH4A1	FTL	PLA2G6	PIGT
HP_ABNORMAL_ELECTRORETINOGRAM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ELECTRORETINOGRAM	TIMP3	PROM1	RPE65	SAG	GNAT2	PDE6B	USH2A	PRPF3	LCA5	CNGB3	IFT140	LRAT	KIZ	TRPM1	RLBP1	IFT172	NEK2	PEX12	CEP290	NR2E3	RP2	LARGE1	CRX	RP1	PCYT1A	AGK	NYX	SDCCAG8	IMPDH1	NUP62	HSD17B4	BBS9	IMPG1	BEST1	IFT27	RHO	BBS5	RDH12	VSX1	MT-ATP6	OPN1SW	IFT74	CFAP418	ABCA4	CAPN5	RS1	POMGNT1	AHR	CACNA1F	CEP19	TKFC	GNB5	TULP1	MYO7A	SLC7A14	PCARE	ADGRV1	TPP1	ZNF699	REEP6	GRK1	AIPL1	BBS7	IFT88	IDH3B	MCOLN1	FAM161A	RPGRIP1	GUCY2D	HGSNAT	PDE6A	SUCLA2	TLCD3B	KLHL7	DHX38	MKS1	ROM1	SPATA7	TTC8	KIF3B	CACNA2D4	PRPF6	SLC24A1	HARS1	NRL	NOTCH3	IDH3A	GNB3	MFRP	RPGR	BBS2	RDH5	ARL6	CLCC1	USH1C	TOPORS	SNRNP200	GUCA1B	CHM	CABP4	ARSG	CNGB1	IDS	ALG3	CERKL	POGZ	RP1L1	TRIM32	SLC25A4	USP45	GDF6	BBS12	ZNF408	CA4	WWOX	CLN3	CRB1	WHRN	BBS4	PDE6G	BBS1	NMNAT1	PNPLA6	EYS	OPN1MW	PRCD	RD3	LZTFL1	RBP3	PRPH2	RP9	CLN8	PPT1	IMPG2	RGR	MAK	AGBL5	KIAA1549	CDHR1	HADHA	GRM6	MKKS	GNAT1	ADAR	ARL3	TIMM8A	SCAPER	CNGA1	MERTK	BBS10	OFD1	OPN1LW	PDE6H	CEP78	PDE6C	PRPF8	GUCA1A	CIB2	ARHGEF18	ZNF513	FLVCR1	KCNJ13	CLRN1	CYP4V2	BBIP1	FSCN2	TUB	DHDDS	ARL2BP	PEX1	CEP104	WDPCP	MT-TS2	CNGA3	ATF6	USH1G	CDH23	PIEZO2	ESPN	IQCB1	ACOX1	PRPF4	EMC1	AHI1	PDE6D	PCDH15	NPHP1	RNF216	SSBP1	SEMA4A	PDZD7	LRIT3	PRPF31	CWC27	GPR179
HP_SLOW_SACCADIC_EYE_MOVEMENTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLOW_SACCADIC_EYE_MOVEMENTS	VAMP1	NOP56	SLC44A1	ATXN2	MAPT	FBXO7	VPS13A	ATXN1	SHMT2	AFG3L2	ALS2	PDYN	GJC2	GBA	ELOVL5	MRE11	SNCA	ATXN7	TMEM240	PIK3R5	ATP13A2	COQ5	DARS2	PRNP	CHP1	PLD3	PEX2	TNR	ATP2B3	DHX16	AGTPBP1	ATXN8OS	SYT2
HP_ABNORMALITY_OF_THE_LENS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_LENS	MAF	FAM50A	IL12A-AS1	ELN	FAM111A	PROM1	FKTN	INPP5E	IL12A	MECP2	SLC25A4	ZEB2	EED	B3GALNT2	CCDC28B	RB1	SMG8	COX7B	FAR1	OTX2	MT-ND5	FANCC	BCOR	FLVCR1	ENTPD1	NDP	PEX3	HSPG2	SPRTN	CHSY1	GTF2H5	FBN2	EIF4H	CYP27A1	TAP1	LRP5	ERCC3	FANCF	ERCC4	PEX7	FANCD2	ERCC2	GTPBP2	PHGDH	ERAP1	TWNK	B9D1	HMX1	SALL4	GMPPB	CRYBB3	CTC1	BRCC3	RNF13	CASK	TAPBP	ESCO2	LRAT	CYSLTR2	POLG	FTL	SLC7A14	PCARE	STAT4	KDSR	PEX5	SC5D	SMC3	SEMA3E	PNPLA6	SDHD	MED25	VHL	AGK	HGSNAT	CAV1	PHYH	ERCC1	FZD4	SRD5A3	SBF2	ERCC5	CRPPA	DNMT1	SDHC	POLR1D	MAD2L2	FANCA	ALG3	SLC33A1	COG4	KMT2C	TRIM44	PEX6	COPB1	RPL27	CRYGS	TKFC	TONSL	CRYAB	SPTBN1	YAP1	KIAA1549	PIK3C2A	ALMS1	RAB3GAP1	RPL35A	ITPA	GALM	TRAPPC11	RTEL1	DYNC2I1	RPS26	FLNA	PEX12	BAP1	TARS1	POLG2	ELP4	TELO2	RPS15A	CRX	JAG1	RAB3GAP2	ALX3	CTNNB1	WT1	FOXE3	METTL27	ALDH6A1	AKT1	DHCR7	RDH5	CREBBP	ARL6	OAT	CEP57	LCA5	PEX11B	PEX16	USF3	FIG4	ALDH18A1	GUCA1B	AIRE	MT-TF	CERKL	RPL15	RP1L1	PAX6	LONP1	RAD21	KRT83	HCCS	POMGNT1	USP45	BDNF	MIPEP	FAS	VPS4A	DHX38	TBX1	CRB1	MT-TC	KCNH1	COL4A6	PEX13	GCNT2	ATAD3A	TUBGCP6	PEX26	FKBP6	CLPB	BRD4	COL9A2	RAB18	AGBL5	DOCK6	REEP6	PIK3CA	ERCC6	POMK	KLLN	WDR19	BUD23	TERC	ANAPC1	ATP6V1A	PDE6A	NPHP3	PTPN22	GBA2	PMM2	FANCE	PRCD	DNAJC30	MT-CYB	TFAP2A	FLI1	PEX14	SIL1	TSPAN12	KRT25	PTEN	GNAS	KCNJ13	VPS37D	FBN1	LOXL3	KIF11	EP300	BFSP2	PTCH1	IARS2	NR2E3	C4A	CHMP4B	DHDDS	ARL2BP	MT-TL1	SDCCAG8	RPS19	KRT71	TMEM107	CBS	B4GALNT1	PHF6	ADAMTS10	COL18A1	CRYAA	ERCC8	CRYBB2	MED27	MT-TE	TMEM67	SALL1	DLL4	PITX3	POMT2	CDH23	MKS1	TRIP13	KIF1B	COL11A1	XRCC2	ZNF408	MT-TK	STX16	GLA	SEMA4A	ETFA	AFF4	RPS6KA3	ATP6V1B2	BRCA1	VSX2	PORCN	PRPF31	SLC16A12	LRP4	OCRL	POLR3GL	IQCB1	APC	MT-TW	SLC25A13	VCAN	HDAC8	PRPF3	PEX1	MIR184	ETFDH	VLDLR	FH	GNA11	IFT140	EBP	CYP7B1	CEP164	MAX	SLC40A1	TCTN2	SLC4A4	RP1	CRYGC	GSN	NUP188	PLCG2	TBC1D24	RPS28	PRKCZ	HNRNPA2B1	CENPF	AMER1	CSPP1	CTDP1	MMP1	TMEM237	RPL35	DSG4	FKRP	RS1	RPL5	IMPDH1	LARGE1	TULP1	LTBP2	UFD1	DPAGT1	ADGRV1	UBAC2	AASS	AIPL1	IFT88	ASPH	FAM161A	XPA	RALGAPA1	INPP5K	HIRA	CEP290	PALB2	PLK4	KCNAB2	CRYBB1	NPM1	KLHL7	GJB3	SDHB	FANCG	PEX19	FDXR	PTPN2	ROM1	POMT1	RPGRIP1L	RDH12	CRYGB	PDPN	PRPF6	NOTCH1	CCR1	MYO7A	NSUN2	SEC24C	PSMC3	NHP2	GJA8	COL9A3	XPC	PAH	SNRNP200	TMEM231	ARSG	COL7A1	B9D2	APC2	SREBF1	GDF6	NIPBL	RSPO2	DDB2	SPEN	AP1S1	PANK4	FOXC2	P3H2	WHRN	NMNAT1	CA8	RHO	IL2RB	OCLN	RBP3	SLX4	MAFA	MORC2	RECQL4	PRPH2	SAG	PIGY	KIAA1109	COL4A3	PTH	TRPV4	HSF4	BAZ1B	GJB6	TCTN3	NEU1	SF3B1	MAN2B1	HTRA2	MIR140	CYP1B1	FAM126A	BEST1	MERTK	UBE2A	TXNDC15	SHROOM4	SEC23A	ZNF513	COL9A1	NOP10	RTN4IP1	WDR81	UBE2T	NOD2	FOXC1	RP9	PRUNE1	FSCN2	TTC8	TAOK1	PEX10	PEX2	FGF3	FBLN5	PAX2	GEMIN4	C12orf57	CRYGD	INTS1	MOCS2	KCNA4	SEC31A	ABHD12	CLRN1	USH1G	RPL31	MT-TS2	ESPN	RFWD3	TINF2	RPS29	EPG5	HLA-A	ADAMTSL4	B3GLCT	PCDH15	TSR2	DAG1	RREB1	CLIP2	SIX6	MOCS1	LMNA	GTF2IRD1	HNRNPDL	PCYT1A	CPAMD8	BFSP1	SMAD4	DKC1	COMT	OPA1	BBIP1	EPCAM	GATA1	RAD51	KANSL1	DNM1L	KIZ	GTF2I	NEK2	ABCA2	NCF1	ARSL	FYCO1	POLR1C	KRT74	RPL18	HLA-B	IMPG1	MPLKIP	LAMB1	COL2A1	EPHA2	GALK1	FIBP	ACTB	NF2	NHS	GTF2E2	CHD7	LRP2	GALT	JAM3	FANCL	NACC1	PTCH2	GNAQ	LEMD2	ARHGAP31	TUBG1	ABCA12	ZNF335	BUB1B	MTX2	ABCA4	WDR73	BCL7B	OFD1	COL4A1	MT-ND6	AMACR	NPHP4	KCNN3	RPS10	SPATA7	POMGNT2	SALL2	NPHP1	GJA1	SUOX	SLC2A1	PRDM16	GFER	HARS1	SMAD3	KCTD1	TMEM127	USH2A	COL4A4	BBS2	BRF1	FANCB	EHMT1	WFS1	FANCI	SMC1A	IKBKG	PITX2	CNGB1	COL5A1	DMPK	VIM	RERE	MYH9	CA4	SMCHD1	USB1	CLN3	USP9X	TLR4	ARL3	MIP	FGF5	RFC2	PDE6G	IDH3B	RET	TMTC3	LIG4	PRR12	ATP8A2	SIPA1L3	IMPG2	RGR	MT-CO1	CDHR1	PIK3R1	XYLT2	ETFB	SCAPER	ABHD5	RLBP1	LSS	TBC1D20	ANO10	NEK9	ZBTB20	RAD51C	TGFBI	EYS	TCTN1	PRPF8	TCOF1	MRPS28	NAGA	CNBP	ATOH7	RPS24	CFAP410	ARHGEF18	IFNGR1	PLOD3	ITM2B	ADA2	TUB	LMX1B	CRYBA4	IFT172	PDE6B	BUB1	RPGRIP1	DGUOK	RDH11	IL2RA	ANKRD55	CC2D2A	MYSM1	CFAP418	TGM3	CHRDL1	TERT	IL23R	BRCA2	DYNC2H1	ADAMTS17	GP1BB	BCS1L	HLA-DRB1	BMP4	PQBP1	AMMECR1	WDR35	EOGT	MLXIPL	SUFU	RPE65	SPTLC1	ALG8	XRCC4	TMEM216	RRM2B	TKT	FLNB	MT-TV	FBXW11	PNPT1	BTNL2	RP2	LIMK1	RPS17	RPS7	RXYLT1	VAC14	LOXL1	LIM2	OPA3	UBE4B	WRN	ARVCF	VCP	AHR	NOTCH2	IDH1	MINPP1	RPS27	BBS1	NSD1	CNGB3	MAB21L2	MIR204	GUCY2D	CRYBA2	MEFV	SETD2	GNPAT	CD247	RPS20	LIPH	B3GALT6	CRYBA1	MYMK	MMP23B	MT-CO3	PTH1R	AGA	SPRED1	BBS9	DACT1	NRL	IDH3A	MFRP	BUB3	TBL2	LAMB2	WNT3	GSR	PARN	TOPORS	RIC1	TUBB2B	FAM111B	FANCM	SEC23B	ADNP	MVK	ALX1	KRT81	MT-CO2	FBXL4	DYRK1A	MAP2K2	TMEM270	BRIP1	PXDN	IL10	INVS	DYNC2I2	RD3	UBA5	SUMF1	CPT2	STX1A	ADAMTS18	MAK	NDUFB11	RPGR	RNF113A	COL4A5	RPL11	HS2ST1	CASZ1	POLR1B	CNGA1	UNC45B	RPL26	TMEM70	USH1C	CEP78	HNRNPA1	JMJD1C	GJA3	GTF2IRD2	CIB2	RHOA	MSMO1	KRT86	GJB4	LPAR6	LUZP1	B4GAT1	ALG2	TDRD7	NAA10	TBR1	ARL2	KLRC4	POLR3A	CDH11	GABRD	SKI	WRAP53	PRPF4	IFT80	MT-TQ	ALDOB	TRAF3IP1	TAP2	RBPJ	MT-ND1	MTAP	PDZD7	AHI1
HP_DEVELOPMENTAL_CATARACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVELOPMENTAL_CATARACT	MAF	ELN	MT-TW	FAM111A	MT-TF	RPL15	PAX6	ALDH18A1	MT-CO2	SDHD	LONP1	GJA8	GATA1	MIR184	KANSL1	ETFDH	MT-TL1	VPS4A	MT-ND5	MAP2K2	ENTPD1	NDP	ABCA2	MT-TV	HSPG2	RAB3GAP2	MIP	MT-TC	ERCC8	KCTD1	GCNT2	IARS2	MAX	RET	CRYGC	DOCK6	RPL18	NUP188	RPS17	RPS7	ERCC3	PIK3C2A	PHGDH	MPLKIP	MAFA	RECQL4	PEX5	PEX7	EPHA2	RPS28	SIPA1L3	RAB18	PIGY	MT-CO1	RPL35	NHS	HMX1	CRYBB3	RNF113A	NEU1	ETFB	RPL11	ERCC2	GTF2E2	RPL5	FAM126A	LSS	TBC1D20	ANAPC1	UBE2A	RPL26	IDH1	FAR1	DPAGT1	RPS27	MT-CYB	CTDP1	RAB3GAP1	AGK	ERCC1	MIR204	VHL	ATOH7	SIL1	CRYGD	RPS24	CRYBA2	COL4A1	CAV1	FZD4	CRYBB1	MSMO1	RPS20	BFSP2	ADA2	SLC33A1	KMT2C	SDHB	RPS19	FBLN5	RPL27	LMNA	COL18A1	CRYAA	CRYBA1	CRYBB2	MT-ND6	RPL35A	COL11A1	KCNA4	POMT1	RPS10	SEC31A	MT-CO3	ATAD3A	COL4A5	RPS26	RPL31	CRYGB	MT-TS2	MED25	GTF2H5	TARS1	KIF1B	TELO2	GFER	RPS15A	RPS29	EPG5	MT-TQ	TMEM127	CRYAB	PNPT1	TSR2	MT-TK	ETFA	PSMC3	PEX11B	MT-ND1	EHMT1	WFS1	RIC1	BCOR	OCRL	ERCC6
HP_PROPTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROPTOSIS	CANT1	FGF9	PIGG	TGFB3	CITED2	FLNB	RTTN	ROR2	RAD51	IRF4	XYLT1	BRAF	RRAS	CDK5RAP2	SNRPN	CDKN1C	RAC3	ESCO2	KCNJ6	NKX2-5	RIT1	FGFR3	FIG4	FANCC	APC	CTLA4	NKX2-6	HSPG2	RAF1	KCNQ1OT1	CTBP1	ATXN3	CTSK	ERF	IGF2	SPECC1L	TBC1D24	NLRP3	COL11A2	NELFA	THRB	GATA6	TGFB1	PSMB8	ZMPSTE24	FANCF	BAP1	VAC14	ERCC4	FANCD2	COL2A1	LRP2	MMP2	LETM1	GATA4	FAM20C	SMARCE1	NF2	RSPRY1	MAFB	EXOC6B	CYP27A1	SLC39A13	DDR2	NSD2	SLC29A3	TRAF7	KDR	ELMO2	NFIX	FGFR2	SMO	CDH11	KAT6A	COG4	SHPK	SEC24D	FANCL	LMNA	PCLO	MITF	DVL3	AKT1	ZNF699	AP3B2	BPNT2	CHST3	PHGDH	CLP1	SLC25A24	FZD2	NAA10	B4GALT7	CRIPT	JAG1	PALB2	PLK4	POR	CPLX1	MRAS	EFEMP2	MAD2L2	MTX2	FANCA	FBN1	SKI	FOXC1	B3GALT6	SLC39A14	MYOD1	FANCG	TSHR	TGFBR1	HLA-DPA1	SPTBN1	SMARCB1	SOS1	PDGFRB	VANGL2	CDC45	PTH1R	NF1	NIPBL	HERC1	SETBP1	SUFU	POLD1	SOST	IFT81	NDE1	AUTS2	SMS	SMAD3	FLI1	STAG2	COL1A1	NXN	NRAS	SOS2	MUSK	TERT	RNU4ATAC	PEPD	PDGFB	ITCH	TGFBR2	TBX1	CREBBP	FLT4	COL11A1	FANCB	FGFR1	DVL1	FANCI	FLNA	PTPN22	MYD88	PIK3CA	PKDCC	RASA2	MAF	FANCM	ALPL	DYNC1I2	DHCR7	ASXL1	FGFRL1	ASPM	INSR	ADAMTS10	ABCA12	PPP2CA	BRIP1	AFF4	RECQL4	KRAS	P3H1	CDON	B3GAT3	SLX4	SPRED2	PIGB	PLCB3	P4HB	ASXL2	GZF1	TWIST1	ZFPM2	COL3A1	SHH	HNRNPK	MAN2B1	PLAGL1	TCTN3	GATA5	RRAS2	SH3BP2	MTHFR	NBAS	RAD51C	FANCE	CRTAP	LZTR1	GDF1	TCF12	PLOD3	SOX9	UBE2T	WNT5A	PRUNE1	PRTN3	BANF1	CKAP2L	FN1	ALG9	PTEN	KCNQ1	IPO8	HLA-DPB1	GJA5	EP300	HYMAI	TTC37	RFWD3	DPYSL5	ZIC1	TAF1	LEMD2	BRCA2	XRCC2	CBL	WDR4	EXTL3	SH3PXD2B	WASF1	BRCA1	BGN	LRP4	SERPINH1	POLR3GL	PTPN11	GNPTAB	PARS2	TNFRSF11A	NOTCH3
HP_ALACRIMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALACRIMA	SLC12A2	SETBP1	CLDN10	MADD	GMPPA	AAAS	FGFR3	SOX10	PAX1	FGFR2	DST	ELP1	PIGQ	FGF10	TRAPPC11	NGLY1
HP_SUBCAPSULAR_CATARACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBCAPSULAR_CATARACT	PAX6	PITX2	ALMS1	CNBP	GJA8	ADAMTS18	OAT	LRP5	NF2	LCA5	OPA3	REEP6	FOXC1	RBP3	ARL2BP	SPATA7	WT1	ABHD5	ZNF408	CHMP4B	RPE65	ARL3	OFD1	SPRTN	IMPG2	CYP1B1	TULP1	TONSL	IDH3B	PDE6A	UNC45B	IMPDH1	LRAT	EYS	FZD4	FOXE3	ABHD12	POLR3GL
HP_ABNORMALITY_IRIS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_IRIS_MORPHOLOGY	SNAI2	MAF	CPAMD8	UBE3A	SEM1	DCT	MYO5A	TGFBR1	TMEM237	ZEB2	CEP120	B3GALNT2	FGFR1	NDN	RAD51	RB1	MAT2A	TRIM44	COX7B	GTF2I	FANCC	SNRPN	BCOR	ACTB	NDP	PEX3	NCF1	MITF	SLC25A11	CEP41	TRAPPC11	MYH11	DAG1	ERF	SLC24A5	NF1	TMEM67	SOS1	EIF4H	NELFA	POLR1C	KRT74	PAX3	FANCF	AHI1	ERCC4	OVOL2	FANCD2	PITX2	LRP2	LETM1	AP3D1	B9D1	NODAL	CRYAA	HMX1	BEST1	KANSL1	SALL4	DLST	CHD7	TGFBR2	DIS3L2	CYSLTR2	TMEM216	MYO7A	FANCL	AAAS	PTCH2	PAH	SEMA3E	GNAQ	PNPLA6	MBTPS2	TRIM28	SMAD3	NRAS	FZD4	WT1	CPLX1	POLR1D	MAD2L2	FANCA	WDR73	BCL7B	FOXC1	PTCH1	PEX6	SPTBN1	YAP1	COL4A1	LYST	DDX6	TGFB2	CYP1B1	PAX6	MKRN3	GRHL2	SIX3	SLC45A2	ATP10A	HPS5	IMPG1	POMGNT2	SALL2	CDON	PEX12	BAP1	MAGEL2	C1QTNF5	NPHP1	ELP4	TONSL	PRDM16	KIF1B	POGZ	RERE	HARS1	ALX3	GATA1	KIAA0586	FOXE3	USH2A	METTL27	NPAP1	NSD2	EDN3	ITPR1	STIM1	FANCB	DISP1	AKT1	ARL6IP6	FANCI	PEX16	VHL	OCA2	BLOC1S6	HCCS	POMGNT1	BDNF	REST	ELN	H19	GPR143	SMCHD1	SDHAF2	POMT2	RFC2	FAM111A	MYOC	RBP4	HPS4	INPP5E	LDHD	KIT	PRKG1	TENM3	PRR12	PEX26	ZIC2	FKBP6	VSX1	SOX10	CEP104	TGIF1	POU6F2	FLNA	PEX5	PIK3R1	XYLT2	ACTA2	PDE4D	VPS13B	ERCC6	POMK	AP3B1	CTBP1	FOXH1	BUD23	TRIP13	RAD51C	FANCE	DNAJC30	TCTN1	NOD2	TFAP2A	TCOF1	FLI1	DTNBP1	PEX14	BRCA2	RPGRIP1L	IGBP1	ATOH7	KRT25	LRP5	VPS37D	SMAD4	BTRC	CRPPA	LMX1B	SMAD2	IGF1R	PMP22	KRT71	TMEM107	PEX1	GDF3	HHAT	MKS1	TP63	CSPP1	WNT10B	MT-TS2	SALL1	SNORD115-1	ARL13B	ROR1	CDH23	TMEM138	GLI2	MYLK	B3GLCT	FGFR2	CC2D2A	SHH	CHRDL1	HEY2	XRCC2	TMEM127	TBX2	ADAMTS17	SRD5A3	SNORD116-1	SDHD	BMP4	BRCA1	VSX2	PORCN	FBN1	TCTN2	NOTCH3	PIGG	GAS1	MLXIPL	SUFU	TYR	SOX2	TYRP1	MIR184	KRAS	GNA11	HERC2	KCTD1	CRYBB2	C12orf57	LIMK1	ATP6V1A	ACTG1	PRKAR1A	MPZ	RXYLT1	TBX22	UROC1	LOXL1	PRKCZ	GMPPA	PIBF1	CENPF	CPLANE1	RAB27A	UBE4B	EPS15L1	LARGE1	NOTCH2	EDNRB	ADGRV1	MPDZ	HPS6	ADAMTSL1	MFAP5	POMT1	MAB21L2	PRPH2	ASPH	FKTN	MLPH	CEP290	PALB2	KCNAB2	LIPH	HPS1	WASHC5	FANCG	OCRL	PEX19	GMPPB	MMP23B	MDH2	SDHB	SMO	BLOC1S3	PDPN	CRYGC	CRYBB1	DACT1	TGFB3	NAA10	RPGRIP1	ELP1	TBL2	COQ2	LAMB2	MAPK1	GJA8	PWAR1	TRIM37	WNT3	MAFB	CHN1	TMEM231	HRAS	ARSG	FANCM	B9D2	ALG3	ADNP	HSPG2	RET	DHCR7	LOX	FGFRL1	FGF8	MC1R	SPEN	ANK1	PEX11B	DYRK1A	PHOX2B	ZEB1	RSPO2	ZNF423	TMEM270	BLOC1S5	BRIP1	WHRN	PEX10	PEX13	DLX5	TDGF1	COL8A2	KATNIP	CBY1	KITLG	SLX4	FKRP	STX1A	GPC3	GZF1	TINF2	BAZ1B	NDUFB11	COL3A1	PUF60	TCTN3	SF3B1	SDHC	HS2ST1	CASZ1	PTEN	POLR1B	LTBP2	TXNDC15	MSH6	USH1C	CEP78	SIN3A	GTF2IRD2	CCDC22	CIB2	RHOA	HYLS1	ARMC9	ADAMTSL4	UBE2T	LPAR6	PEX2	FGF3	LUZP1	MED12L	GJA1	MAX	PWRN1	B4GAT1	ARL3	FH	CRYGD	SH3TC2	MMP2	TBR1	USH1G	IMPG2	ESPN	RFWD3	GABRD	SKI	CLRN1	SDHA	MMP14	EPG5	DLL1	PCDH15	CLIP2	SIX6	KIFBP	GTF2IRD1	PCYT1A	ALG2	PDZD7	DLX6	CRYBA4
HP_ANIRIDIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANIRIDIA	NF1	SEM1	ITPR1	FOXC1	BRCA2	RET	TRIM28	WT1	TRIM44	BTRC	REST	H19	SDHAF2	SLC25A11	PAX6	FAM111A	MAX	FH	WNT10B	DLX5	LDHD	MDH2	PITX2	SDHB	GPC3	ELP4	KIF1B	POU6F2	SDHA	DLST	TP63	TMEM127	PORCN	FOXE3	SDHC	EPS15L1	DIS3L2	SALL4	TRIP13	SDHD	MAFB	DLX6	CHN1	VHL
HP_LONG_EYELASHES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_EYELASHES	SMC3	MAF	KCNK9	MOGS	SPEN	SMARCB1	HDAC8	ATP6V1B2	KDM6A	RAD21	ROR2	SRCAP	MGAT2	RAC3	ABCC9	NIPBL	SMARCA2	DPYD	STAG1	PREPL	PNPLA6	TENT5A	CTCF	AFF4	HSPG2	FGF5	VARS1	EXOC8	FBXO11	KMT2A	CAMKMT	RPS23	CNOT2	KCNK4	VPS33A	LTBP3	BMP1	PUF60	PRR12	COX5A	MAB21L1	MAN1B1	CREBBP	BICRA	SLC25A24	BRD4	VPS51	CTDP1	DVL3	SMARCC2	RUSC2	EGFR	KCNH1	TAF1	RNF2	PACS1	VPS13B	CLP1	FBN1	NOTCH2	FRMD4A	HPDL	MADD	DOCK7	SLC6A9	TAF6	DDB1	ZNF699	AP3B2	TBX4	ARHGEF2	ORC1	MAB21L2	FZD2	SPOP	KCNJ8	SHOC2	WNT5A	DVL1	DENND5A	SHANK3	SOX11	KMT2D	ARID1A	SLC3A1	SMARCA4	SMC1A	BRCA1	MED27	ASXL3	ZFHX4	SLC35C1	KCNN3	SEC31A	EP300	NAA10	PPM1B	GNB2	COL25A1	SMARCE1	ARID1B	NXN	OTUD6B	TMCO1
HP_ANOPHTHALMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANOPHTHALMIA	POMT1	B9D2	MAB21L2	FKTN	SHH	B3GALNT2	SOX2	CEP290	HYLS1	RARB	FREM2	TMEM216	CRPPA	STRA6	SMCHD1	OTX2	SMOC1	ERCC8	TMEM107	DAG1	B4GAT1	TCTN2	COL4A1	TMEM67	FRAS1	TFAP2A	RPGRIP1L	KIF11	RXYLT1	HCCS	POMT2	MKS1	POMGNT2	FKRP	COX7B	CC2D2A	NUAK2	BMP4	B9D1	CSPP1	ERCC6	CHD7	SIX6	TMEM237	NAA10	RPGRIP1	GLI2	RBP4	TCTN3	SEMA3E	POMGNT1	PORCN	NDUFB11	FANCB	GRIP1	ERCC4	LARGE1	FREM1	BCOR	DOCK7	TXNDC15	KIF7	POMK	TCTN1	TMEM231	RAX	ERCC1
HP_PROGRESSIVE_VISUAL_LOSS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_VISUAL_LOSS	TGFBI	PNPLA6	BRAF	ZNF408	MT-CYB	NDUFS2	ATXN7	APOE	RP1L1	CFI	MERTK	CLN3	CEP164	TREX1	CFHR1	PRPS1	KARS1	INVS	ATP1A3	SLC25A46	BAP1	OPA1	IFT140	CARS2	LRP2	DCN	CFH	CDH23	CLN8	PPT1	MT-ATP6	SMARCE1	PCYT1A	CYP4V2	MT-ND2	NF2	COL18A1	FA2H	RHO	PEX7	SON	C19orf12	TRAF7	EPRS1	MT-ND4L	NEU1	SMO	ARL3	RLBP1	NPHP3	MT-ND4	TPP1	AKT1	MFN2	WDR19	PRPH2	SH3BP2	MT-ND6	OAT	MT-CO3	CHM	GUCA1A	CTNNB1	MT-CO1	CLN5	UCHL1	SDCCAG8	TRIM44	RAX2	SMARCB1	KIAA1549	AIP	COL17A1	NPHP4	NF1	MT-ND5	RDH11	NPHP1	MTTP	SUFU	CLN6	MEN1	CFHR3	CFAP418	CDHR1	MT-ND1	HMCN1	TERT	SOST	TRAF3IP1	PDGFB	SEMA4A	RDH5	DNAJC30	PHYH	RS1	GUCY2D	DNM1L	CEP290	PIK3CA	IQCB1	TNFRSF11A
HP_ABNORMAL_CHORIORETINAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CHORIORETINAL_MORPHOLOGY	B9D2	NDE1	PEX1	DCT	SAG	TMEM237	VCAN	ZEB2	VPS35L	B3GALNT2	MT-TK	PNPLA6	LCA5	ZNF408	PEX11B	INPP5E	TMEM216	ZEB1	VPS13B	ZNF423	CRB1	PEX3	MICOS13	DAG1	C12orf57	TCTN2	PEX10	PEX13	LRAT	EYS	DPP6	CC2D2A	COL8A2	EFEMP1	LRP5	TUBGCP6	RXYLT1	HCCS	PRPH2	PAX6	PEX5	TBX22	FKRP	PEX26	CFI	SIM1	VSX1	TMEM67	SLC25A15	RP2	B9D1	CSPP1	ADAMTS18	CYP4V2	GZF1	HMX1	HADHA	SALL4	TSC2	RBP4	SPATA7	TCTN3	SEMA3E	POMGNT1	CASK	RPE65	LARGE1	CLDN19	BCOR	VPS33A	TXNDC15	POMK	TCTN1	FSCN2	RNU7-1	POMT1	UBE3B	PEX14	RPGRIP1L	TSC1	CCDC22	FKTN	TUBGCP4	TSPAN12	NDP	ROM1	CEP290	OAT	CHM	GUCA1A	KIF11	CRPPA	TEAD1	GUCY2D	SALL1	PEX2	WASHC5	MT-TL1	PEX6	TMEM107	GDF3	PAX2	IKBKG	GRHL2	OCRL	PEX19	SPTBN1	HHAT	B4GAT1	NAA10	YAP1	COL4A1	PTEN	WAC	MT-TE	SHH	CLCN2	TMEM231	POMT2	MKS1	POMGNT2	TMEM138	PEX12	EP300	COX7B	C1QTNF5	TIMP3	CRX	CHD7	RERE	DACT1	RPGRIP1	JAG1	HLA-A	CFH	CTNNB1	WT1	ACVRL1	OVOL2	NRL	PORCN	NDUFB11	POU3F4	ACTB	SIX6	CREBBP	BEST1	RNF216	FZD4	MAGEL2	BMP4	AKT1	HLA-DRB1	MAFB	CHN1	PEX16	DHX16
HP_CHORIORETINAL_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHORIORETINAL_ATROPHY	NDE1	PRPH2	CFI	C1QTNF5	SAG	VCAN	TIMP3	TSPAN12	NDP	SLC25A15	ROM1	CRX	OAT	CYP4V2	LCA5	JAG1	HMX1	CHM	HADHA	ZNF408	GUCA1A	CFH	CTNNB1	SPATA7	ACVRL1	TEAD1	NRL	GUCY2D	CRB1	RPE65	PAX2	FZD4	LRAT	EYS	EFEMP1	LRP5	FSCN2	RNU7-1
HP_ABNORMAL_EYEBROW_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EYEBROW_MORPHOLOGY	RERE	WNT10A	EDARADD	NTNG2	ZEB2	TBCK	POLA1	MGAT2	DOCK7	FREM1	CDC42	BCOR	HSPG2	LARP7	CEP41	DCAF17	TMEM67	NECTIN1	CDH2	SOS1	MED27	HDAC4	TWIST2	FAM149B1	PIGW	CTU2	MAB21L1	RBM10	GTPBP2	ODC1	FGFR1	ALOXE3	BBS5	OTX2	EBF3	GJA1	TBCD	CTC1	PACS1	CEP290	COL1A2	CEP19	STRADA	EMC10	CRKL	LMNA	CDH3	FRAS1	SNAI2	SMC3	TBX4	CHST3	ERLIN2	CLP1	PTPN23	RAC1	EHMT1	BBS7	TRIP12	KATNB1	SOX18	EDA	NAA10	SMARCB1	AEBP1	GJB6	CPLX1	COLEC10	RMRP	PHF8	SHANK3	SETBP1	CLCN3	GJB2	SMARCA4	SMC1A	ATP1A3	SPTBN1	DSP	KDM6A	FBXW11	WDFY3	SGSH	DDX6	FAM20C	KREMEN1	RAI1	MBTPS2	SMOC1	ECEL1	RTEL1	TCF20	NIPBL	FUCA1	APCDD1	TMEM94	BRF1	SMS	ARID1B	ZSWIM6	MEIS2	BCORL1	RLIM	RNU4ATAC	KCNN3	CREBBP	RPS6KA3	TMCO1	MYT1L	FIG4	FAR1	SPEN	ADAT3	RAD21	TRIM32	KRT83	LEMD3	FAS	VPS13B	PNPLA6	EGFR	MAN2B1	KCNH1	DHX30	OFD1	SYT1	INPP5E	ZMPSTE24	WNT10B	KMT2E	KIT	UBE3B	CEP104	BRD4	HPDL	CDK19	KRT17	RUSC2	SMARCD1	SPATA5	MKKS	PAX3	KCNK9	TGDS	MITF	TERC	ANAPC1	TCF7L2	PHIP	PUS7	HDAC8	FLI1	SIAH1	BCL11B	GNE	SYNCRIP	KRT25	TTC7A	AASS	TUBGCP2	DEAF1	EP300	SNRPE	IARS2	AGO2	PPP1CB	IGF1R	ZIC2	KRT71	MASP1	HR	DSG4	PHF6	CCDC8	MKS1	TP63	CSPP1	TFE3	SLC1A3	LIPN	FRMD4A	TRAPPC9	SLC29A3	TMEM138	PGAP1	MESD	SETD5	TAF1	KNL1	AHI1	LIG4	KAT8	SETD1A	ACTB	WDR35	ST14	AFF4	ATP6V1B2	STAG1	PYCR2	PIGK	TCTN2	PIGG	RALA	KDM4B	PURA	RIPK4	BCAS3	TTI2	ABCA12	AIP	SLC6A17	CTCF	CTBP1	MEGF8	ACTG1	HSPA9	CC2D2A	NUP188	LAS1L	ANTXR1	MAN1B1	TRMT1	PRKCZ	CPLANE1	UGP2	IDUA	DLX4	PTPRF	LZTR1	SEMA3E	UROS	PIGL	CERT1	TNRC6B	KMT2C	FOXP2	EDNRB	BRAF	PRRX1	FGF3	RALGAPA1	CRIPT	KCNAB2	PPP1R15B	FHL1	NPM1	EDNRA	PIGS	ACTL6A	UBR7	CUL7	HERC1	B9D1	PDPN	MAP3K7	HGSNAT	KLF13	NSUN2	KRT85	RAF1	MAPK1	ADA	PSMC3	NHP2	SOX10	HS2ST1	ANKRD17	AFF3	SRCAP	GAD1	ASPM	CLDN1	TMEM216	ESCO2	SATB1	AHSG	DCLRE1C	MAP2K1	ZNF423	JUP	ANKRD11	BPTF	NMNAT1	KMT2A	LZTFL1	KATNIP	PGAP3	UGDH	RECQL4	TALDO1	KIFBP	DNAJC21	COLEC11	ASXL2	HBA2	CHD7	KIF7	RNF2	EBP	NOTCH2	SCAPER	ERMARD	CHD1	BBS10	UBE2A	CUL4B	PRKG2	SIN3A	GPR101	TCTN3	SVBP	RPGRIP1L	PDE6D	MED13L	HYLS1	ATP1A2	NOP10	FOXL2	KCNJ8	BBIP1	SOX11	SUFU	HEPHL1	BBS2	MED12L	WDPCP	ARL3	C12orf57	ZNF292	ASXL3	MBD5	INTS1	WASF1	TTC8	SLC35C1	TMEM231	TGM1	EDAR	SON	TINF2	PEX1	IQSEC2	MN1	TMEM237	HRURF	OGT	OTUD6B	RET	SPECC1L	TRIO	CWC27	SMAD4	DKC1	IL7R	ZMIZ1	SZT2	CEP120	RAG2	ITGB6	ABCC9	DOCK3	KDM1A	YY1	RPS23	NELFA	KRT74	SDCCAG8	COX5A	RAG1	IFT27	LETM1	IFT74	FBXO31	ARX	ACTL6B	MADD	DPYSL5	SLC25A24	PACS2	LRPPRC	WAC	NAGLU	SLC1A4	MAPK8IP3	HNRNPU	KCNMA1	MTX2	ARID1A	NF1	CACNA1A	TFAP2B	WDR26	TASP1	NEPRO	TOPORS	UQCC2	MED25	NPHP1	AUTS2	PIGV	PRDM16	SMARCE1	PIGN	OBSL1	KIAA0586	CWF19L1	NSD2	EDN3	SLC45A1	CCDC32	MAGEL2	MAP1B	HBA1	ASXL1	CAMK2G	LSS	TRRAP	SMARCA2	USB1	DOLK	SLC12A2	COX7B	LTBP3	SIM1	PRR12	BICRA	KIAA0753	ELN	SMPD4	SLC39A4	IRX5	GRIA4	SMARCC2	PGAP2	XYLT2	SDR9C7	MEF2C	RPL21	ZBTB20	NBAS	CDK10	LRP1	KRAS	PCNT	SPINK5	CDKL5	DNMT3A	COL11A1	FLII	SPOP	MAF	ADAM17	CYP4F22	SETD1B	CFAP418	TRPS1	WNT4	B4GALT7	ZNF462	ARL13B	NTNG1	PSMD12	CNOT3	TERT	COG6	RIN2	PQBP1	AMMECR1	KAT5	VPS35L	MLXIPL	TYRP1	ARID2	TRIM8	APTX	NRAS	GPRASP2	IFT172	MED13	XYLT1	CYFIP2	CNOT2	KCNK4	NFIB	KANK2	GNPTAB	HMGA2	VAC14	LPAR6	PUF60	BBS9	KMT2D	PIBF1	CHRNA7	UBE4B	TCTN1	LMX1B	EPS8L3	CDH11	KAT6A	VPS33A	RNF125	TAF6	DDB1	ZNF699	TANC2	TBX3	NIPAL4	SLC35A2	SOX4	LIPH	PALS1	BMP2	NANS	ALOX12B	CHSY1	CLCN6	PTPN22	SHOC2	MMP23B	POLR3A	CDC45	GUSB	ATAD3A	EXT1	ZNF407	STXBP1	GNB2	ACER3	IL1RAPL1	PARN	STAG2	DSC3	ALX1	FGFRL1	KRT81	GNS	BBS12	CCNK	FBXL4	NFIX	DPH1	CCDC47	IL2RG	MAP2K2	NECTIN4	BBS4	BBS1	AIFM1	DPF2	SOX6	HNRNPK	HTT	SUMF1	CDON	HECW2	CBY1	B3GAT3	KDM5C	SCARF2	OCA2	COL3A1	CASZ1	LMBRD2	SLC9A6	ITGA3	BCR	ARL6	ARMC9	PIGO	FBN1	ABCA5	KRT86	PPP2R3C	LUZP1	MC1R	BANF1	RPS28	TRMT10A	SULT2B1	ALX4	PEX6	CSNK2A1	SHMT2	ZNF711	SF3B4	GABRD	SKI	WRAP53	HUWE1	PIGY	SOS2	PPP1R21	EIF5A	TRAPPC4	SMCHD1	EDA2R	AXIN2	JARID2
HP_SPARSE_AND_THIN_EYEBROW	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPARSE_AND_THIN_EYEBROW	EDARADD	COL11A1	EDA	LIPH	CRIPT	CLDN1	RMRP	WNT10A	TP63	DOLK	SOX18	EDNRA	JUP	BANF1	RPS28	GJB2	NECTIN4	EDAR	DSG4	ALX4	KDM6A	MEGF8	NECTIN1	NF1	HDAC4	TRPS1	KANK2	MBTPS2	GNPTAB	APCDD1	KRT71	POLR3A	ANTXR1	B4GALT7	UBE3B	LPAR6	CHST3	KRT74	KMT2D	NAA10	SPINK5	BRF1	KRT17	LSS	GJB6	SNRPE	RNU4ATAC	EBP	KIFBP	ST14	RPL21	TMCO1	DSP	RIN2	CDH3	HRURF	ITGA3	TWIST2
HP_EPICANTHUS_INVERSUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPICANTHUS_INVERSUS	COLEC10	PEX6	MASP1	SIX2	PPP1R12A	FOXL2	HUWE1	COLEC11	ZFHX4	KAT6B	EBF3	COL25A1	DDB1
HP_ABNORMALITY_OF_REFRACTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_REFRACTION	MAF	FAM111A	FKTN	NTNG2	TBCE	EED	PDE6B	CCDC28B	NDN	GNAT2	MSX2	SMG8	NT5C2	FANCC	HSPG2	RAB11B	FBN2	MED27	EIF4H	ALDH1A3	PIGW	GNB3	SIX6	NYX	ERCC3	FANCF	EXOSC5	ERCC4	FANCD2	C1QBP	LRP2	RBM10	GTPBP2	POLR3A	WDR19	SRCAP	EBF3	RPL10	PACS1	CASK	CACNA1F	COL1A2	CYSLTR2	EMC10	SMC3	CHST3	PTPN23	TRIP12	SDHD	B4GALT7	SMARCB1	SMARCAL1	CENPT	SDHC	ATP6V1A	MAD2L2	FANCA	SKI	KMT2C	CLCN3	CHAMP1	FBXW11	WDFY3	DDX6	TCF20	LRIT3	TRAPPC11	GJC2	NIPBL	TTC8	BAP1	SOX5	OPN1MW	TMEM94	PDE4D	TARS1	SMS	ARID1B	RERE	WDR35	JAG1	CSPP1	BCORL1	RLIM	TMEM63A	METTL27	NPAP1	AKT1	GALNT2	CREBBP	GNPTAB	OAT	PPP1R12A	DYRK1A	MYT1L	TCTN2	USF3	GPR179	TUB	SCO2	PLOD1	RAD21	POMGNT1	COL2A1	ELN	VPS13B	SNRPN	CRB1	KCNH1	COL4A6	VARS1	BEST1	SYT1	B3GALNT2	ATAD3A	KMT2E	UBE3B	KERA	FKBP6	BRD4	COL9A2	NSD1	HPDL	CYP4V2	SMARCD1	OTUD5	CSGALNACT1	RAI1	PIK3CA	B4GALT1	ERCC6	POMK	MAGEL2	KLLN	BUD23	ZNF469	PMM2	FANCE	DNAJC30	MBTPS2	PDE6C	SLC2A10	ATP6AP1	TCF7L2	CABP4	PHIP	PUS7	BCL11B	SYNCRIP	PTEN	VPS37D	FBN1	LOXL3	DEAF1	KIF11	EP300	BFSP2	TEAD1	AGO2	UCHL1	EMC1	TCF4	CBS	ADAMTS10	PIGT	COL18A1	TFE3	SNORD115-1	TRPM1	PIGU	FLNA	LRRC32	CDH23	PRSS56	SPTBN1	SETD5	COL11A1	IFIH1	TAF1	PIGQ	PRDM5	XRCC2	HNRNPK	KAT8	KCNE5	SETD1A	SLITRK6	TRPV4	AFF4	SAG	CDK8	BRCA1	EXOSC2	NOG	POLR3GL	CANT1	GRM6	FKRP	VCAN	HDAC8	TGFBI	IFT122	TRIT1	MIR184	KDM4B	GNA11	CTCF	TFAP2A	ANTXR1	ZMIZ1	FGD1	CACNA1G	MAN1B1	GPR143	TBC1D24	PRKCZ	THG1L	TGM5	POLR1C	AGBL5	ZNF148	FANCI	GPAA1	PIGL	RIN2	TNPO2	SCUBE3	FKBP14	TNRC6B	PPP2R5D	CLDN19	LTBP2	EDEM3	SLC39A5	ADGRV1	ADAMTSL1	BRAF	ADNP	FGF3	TFAP2B	COL3A1	CRIPT	PALB2	KCNAB2	ERCC8	ARL6	AP1B1	MAG	FANCG	SLC4A11	DSE	ACTL6A	KIAA0753	MYOC	POMT1	HERC1	BLOC1S3	PDPN	CACNA2D4	SHANK3	MYO7A	LAMB2	NSUN2	ELP1	NDUFB11	PDGFRB	GLRB	ERCC2	TSPAN7	PIGG	PAX2	GJA8	TRIM37	COL9A3	HS2ST1	CHST6	ANKRD17	ARSG	APC2	POGZ	SATB1	GMPPB	ZEB1	SPEN	H1-4	KIAA0586	MAP2K1	USP7	P3H2	BPTF	WHRN	PAX6	UBE3A	GATAD2B	LCA5	NMNAT1	MYO5A	ARR3	PGAP3	SLX4	CNOT3	KMT2B	DNAJC21	POMT2	KIAA1109	COL4A3	BAZ1B	RNF2	SF3B1	MAN2B1	EPRS1	MIR140	EFL1	ERMARD	RMRP	KRAS	SIN3A	ARHGEF2	SVBP	MED13L	ERBB3	COL9A1	FOXL2	HERC2	UBE2T	TAOK1	HACE1	CHST14	MED12L	OCA2	C12orf57	ASXL3	SLC35A2	MBD5	COL17A1	CRYGD	INTS1	WASF1	RORA	NFIX	USH1G	ZMYM2	ESPN	MAP3K7	RFWD3	SON	RP1	B3GLCT	PCDH15	NEK1	DAG1	IQSEC2	CLIP2	GTF2IRD1	PCYT1A	AP3D1	OGT	IGF1	RAD50	SMAD4	CHD3	MYO1H	FLCN	TRMT1	RAD51	TWIST2	HK1	KANSL1	ZNF408	CNGB3	AMMECR1	KIDINS220	GTF2I	NCF1	DOCK3	FBXO11	KRT5	YY1	ALDH18A1	AHDC1	AGK	SATB2	MPLKIP	EPHA2	GNPTG	COL11A2	FIBP	LOX	CRYAA	RRAS2	SMARCA4	TULP1	CFAP418	SOBP	GTF2E2	ACTL6B	EIF2S3	FANCL	POLR3B	DPYSL5	LARGE1	THOC6	GLE1	RAX	MID1	ZSWIM6	CHD4	SLC25A24	PACS2	GNAQ	WAC	ABCC6	RECQL4	TUBB4B	MAPK8IP3	KCNMA1	RAB28	ZEB2	BCL7B	PPM1D	ARID1A	CYP1B1	MKRN3	TBC1D7	WDR26	TASP1	SOX11	MED25	PRDM16	SLC24A1	HARS1	OTX2	USH2A	COL4A4	IFT52	FANCB	EHMT1	CCDC32	PRMT7	SMC1A	ATP6V1B2	COL5A1	CCNQ	ASXL1	CAMK2G	SLC25A4	IFT172	ENPP1	P4HA2	USP9X	SLC12A2	RFC2	COX7B	UBR7	LIG4	MFRP	PRR12	BICRA	VSX1	IRX5	GRIA4	BMP4	CLDN11	TRNT1	PGAP2	PIK3R1	XYLT2	GNAT1	FOXP1	TIMM8A	ZNF644	KRT14	NONO	NBAS	RAD51C	NR2F1	MADD	FLII	COL4A1	PLOD3	ATRX	FN1	ZFHX4	MT-TS2	NTNG1	ALDH3A2	ANKRD11	PSMD12	COL25A1	ATP6V0A2	CHRDL1	ELOVL4	BRCA2	ADAMTS17	PURA	MARK3	SNORD116-1	AEBP1	PQBP1	KAT5	LAMA1	MLXIPL	PRPS1	LRPAP1	ARID2	CSTA	NRAS	MED13	XYLT1	CTSK	CRYBB2	FGFR3	LIMK1	LRAT	SLC39A8	SLC12A6	RP2	RHO	UBE4B	LMX1B	ARCN1	RPE65	TKFC	NOTCH2	KAT6A	KDM5B	HUWE1	SLC6A6	SOX2	DPAGT1	BBS1	CTNNB1	TANC2	GRK1	CHMP1A	SOX4	TYR	CRYBA2	BCAS3	SETD2	SMARCC2	SHOC2	ACSL4	PALS1	PIGV	B3GALT6	GRHL2	NPR3	TBC1D23	MMP23B	CDC45	GTF2H5	CRYGC	CRYBB1	STXBP1	SMARCE1	GNB2	HS6ST2	BBS9	OPTN	COL12A1	TBL2	RPGR	KCNV2	PWAR1	AP1G1	RS1	CHM	IFT43	FANCM	SEC23B	MC1R	HTT	DPYD	CCDC47	MAP2K2	TMEM270	OPN1LW	BRIP1	DPF2	COL8A2	CC2D2A	B3GAT3	KDM5C	STX1A	GZF1	HADHA	PUF60	SPATA7	RNF113A	COL4A5	CASZ1	ADAMTS2	RPGRIP1	LMBRD2	PDE6H	USH1C	CEP78	P4HTM	GTF2IRD2	CLDN16	CIB2	SYNE1	RHOA	PIGO	ADAMTSL4	PTPN11	YME1L1	SLC6A8	CPSF1	RNU4ATAC	ATP6V1E1	LUZP1	GJA1	PWRN1	TMEM98	CNGA3	ATF6	IPO8	PRIMPOL	PIEZO2	GABRD	CLRN1	NEUROD2	RLBP1	PIGY	OVOL2	PPP1R21	SDHB	PCNT	TRAPPC4	ACOX1	PDZD7	PITX2	CRYBA4	ZC4H2	JARID2
HP_HYPERMETROPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERMETROPIA	KAT5	LAMA1	FAM111A	SMAD4	CHD3	MLXIPL	PDE6B	FLCN	NDN	GNAT2	SRCAP	IFT122	MSX2	CSTA	KANSL1	SNRPN	CNGB3	KIDINS220	GTF2I	NCF1	CTCF	FBXO11	KRT5	RAB11B	LIMK1	ATP6V1A	YY1	EIF4H	ALDH1A3	PIGW	GNB3	SIX6	NYX	SATB2	FGD1	CACNA1G	MAN1B1	PRKCZ	TGM5	COL11A2	WDR19	RHO	ZNF148	RRAS2	UBE4B	TULP1	SOBP	PIGL	TNPO2	CACNA1F	CREBBP	HUWE1	SLC6A6	SOX2	NSD1	CTNNB1	PIGT	ADNP	CHST3	RAX	SLC25A24	PACS2	GRK1	CHMP1A	FGF3	B4GALT7	COL3A1	KCNAB2	ERCC8	TUBB4B	CENPT	SETD2	SHOC2	MAG	PIGV	BCL7B	KMT2C	CLCN3	PPM1D	CHAMP1	DDX6	KIAA0753	WAC	TBC1D23	MKRN3	MMP23B	WDR26	TASP1	BLOC1S3	PDPN	MED25	CACNA2D4	SHANK3	PDE4D	MYO7A	PRDM16	POGZ	SLC24A1	GNB2	WDR35	HARS1	OTX2	PDGFRB	SAG	IQSEC2	MFRP	METTL27	TBL2	NPAP1	IFT52	RPGR	PIGG	PPP1R12A	BEST1	EHMT1	PWAR1	DYRK1A	RS1	TCTN2	IFT43	ARSG	APC2	PLOD1	HSPG2	SPEN	RERE	IFT172	ELN	CCDC47	USP9X	TMEM270	CRB1	POMT2	RFC2	GATAD2B	LCA5	FKTN	NMNAT1	SYT1	B3GAT3	PGAP3	PRR12	KERA	CNOT3	KDM5C	BICRA	FKBP6	RPL10	STX1A	DNAJC21	CLDN11	KIAA1109	PGAP2	BAZ1B	OTUD5	CSGALNACT1	GRM6	GNAT1	PUF60	HNRNPK	SON	NOG	ERCC6	MAN2B1	EPRS1	CASZ1	KRT14	MAGEL2	BUD23	RPGRIP1	ERMARD	LTBP2	RMRP	NBAS	PDE6H	DNAJC30	USH1C	CEP78	PDE6C	ATP6AP1	NR2F1	SIN3A	CABP4	P4HTM	PHIP	GTF2IRD2	KAT8	BCL11B	CLDN16	MADD	CIB2	SYNE1	COL4A1	MED13L	FOXL2	PIGO	VPS37D	RAI1	HERC2	KIF11	EP300	YME1L1	SLC6A8	TAOK1	SLC39A8	LUZP1	MED12L	GJA1	PWRN1	TMEM98	ASXL3	MBD5	RORA	ZFHX4	MT-TS2	CNGA3	SNORD115-1	ATF6	NFIX	TRPM1	PIGU	PRSS56	USH1G	CDH23	POLR3A	ZMYM2	ESPN	SETD5	PIEZO2	SATB1	GABRD	SKI	CLRN1	EMC1	COL25A1	PIGY	PCDH15	NEK1	MARK3	PCNT	CLIP2	SNORD116-1	TRPV4	GTF2IRD1	OGT	DPF2	PQBP1	LRIT3	RAD50	ZC4H2	GPR179
HP_RETINAL_DETACHMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_DETACHMENT	IKBKG	COL11A1	PLOD1	FKTN	LTBP2	VCAN	B3GALNT2	POMGNT1	LCA5	ZNF408	FRG1	DYRK1A	FAS	GNA11	BCOR	NDP	P3H2	DAG1	POMT1	NSMCE2	LRAT	COL9A2	GNAQ	EFEMP1	LRP5	TUBGCP6	COL2A1	RXYLT1	TENM3	FBN1	FKRP	BEST1	LRP2	ALG12	CFI	POMT2	TEK	GZF1	XRCC4	HMX1	COL18A1	MAF	XYLT2	RAI1	SPATA7	SF3B1	TSPAN12	CAPN5	CHST14	POMK	RPE65	PAX6	PTEN	CBS	MIR140	LARGE1	CYSLTR2	ZNF469	ADAMTSL1	PRPH2	FZD4	ATOH7	VHL	FLII	COL9A1	CYP1B1	ALDH1A3	ADAMTSL4	LOXL3	CRPPA	DEAF1	KIF11	PAX2	B4GAT1	YAP1	COL4A1	DSE	GMPPB	PTPN22	IPO8	IMPG2	IMPG1	POMGNT2	CACNA1F	BAP1	IGFBP7	HLA-A	CFH	CHRDL1	PRDM5	CTNNB1	MYOC	NHS	IQSEC2	SIX6	COL9A3	RS1	AKT1	ARL6IP6	KCNJ13	TUB
HP_OPTIC_DISC_PALLOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPTIC_DISC_PALLOR	NDUFB3	NDUFA1	TMEM67	MVK	SNRNP200	B3GALT6	OPA1	NDUFB9	NDUFAF5	RTTN	SMG8	NDUFS3	LCA5	PDE6G	DNM1L	INPP5E	NDUFAF4	ITM2B	LRAT	PANK2	NDUFB11	NDUFV1	MERTK	PRPS1	FLRT1	PRPF31	FOXRED1	COX7B	EXOC8	MYOC	MT-ND3	NGLY1	IDH3B	MT-ATP6	AIFM1	NMNAT1	PISD	IMPDH1	OSTM1	RP1L1	ATXN1	EYS	KLC2	CYP27A1	TOR1A	PRCD	NDUFS4	TUBGCP6	ESPN	UBE3B	POMGNT1	BEST1	NDUFS7	MSTO1	PIGB	CLN8	TPI1	MFSD8	CLDN11	CASK	KCNJ13	TRNT1	NDUFS6	CLCN7	ARL2BP	TULP1	SPATA7	HK1	ABCA4	PROM1	NDUFAF1	MAN2B1	RPE65	KCNC3	IMPG2	NDUFAF2	NDUFAF8	CNNM4	PDE6A	PRPF4	NDUFAF3	RIMS2	DPAGT1	ERCC8	NDUFS1	IFT172	AFG3L2	AP3B2	MFN2	MT-ND2	ARHGEF2	ARHGEF18	BBS2	NR2F1	MFF	DARS1	COL4A1	VPS41	ZNF513	PLK4	RTN4IP1	NDUFS8	MKS1	RBP3	GFM2	MAG	SDHD	FAM161A	OPA3	ARL13B	MAK	STX3	PEX1	NDUFA11	LYRM7	NDUFS2	COL18A1	KIAA1549	FGF12	TMEM126A	ALMS1	CERKL	CYP1B1	SCAPER	NDUFB10	TASP1	MMP19	CACNA1F	BLOC1S3	NDUFV2	NDUFA6	C1QTNF5	USP45	HARS1	PMPCB	TMEM126B	GRID2	ERCC6	CFAP418	HLA-A	ELOVL1	MT-ND1	ZNF408	TIMMDC1	NDUFC2	CLCC1	ACER3	CNGA1	DYRK1A	SPG7	NUBPL	GNAT1	NFIX	AIPL1	TUB	PARS2
HP_EXTERNAL_OPHTHALMOPLEGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXTERNAL_OPHTHALMOPLEGIA	POLG	MT-ND6	MT-TT	BIN1	DNM2	MT-TK	GIPC1	SALL4	FRG1	RRM2B	MGME1	TWNK	MYF5	ATXN3	SLC19A3	SDHB	SDHA	TYMP	PHOX2A	MT-TS2	LRP12	LIG3	MT-TW	KIF21A	OPA1	SLC25A4	C1QBP	TOP3A	RNASEH1	MT-TL2	MT-TN	MT-TL1	MT-TH	DGUOK	MYF6	ACADS	MT-CO1	MTMR14	MT-ND1	HPDL	ATG7	MT-ND5	TK2	FA2H	MTM1	RYR1	MFF	MT-ATP8	DNA2	APTX	MT-TF	NUTM2B-AS1	STIM1	LYRM7	POLG2	NOTCH2NLC	MT-TE	MT-CO3	VARS2	NDUFAF2	MT-CO2	SCN4A	TUBB3	SDHAF1	STUB1	SDHD	MT-ND4	SLC52A3	MT-TQ
HP_MYOPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOPIA	MAF	FKTN	MYO1H	EED	PDE6B	NYX	CCDC28B	NDN	GNAT2	TWIST2	BRAF	MSX2	ZNF408	CNGB3	POMT2	NT5C2	AMMECR1	TRPM1	GTF2I	NCF1	HSPG2	FBN2	ALDH18A1	EIF4H	AHDC1	AGK	GNB3	ERCC3	EXOSC5	ATAD3A	MPLKIP	COL2A1	LRP2	RBM10	GTPBP2	EPHA2	GNPTG	COL11A2	LOX	POLR3A	CRYAA	SRCAP	SMARCA4	TULP1	RPL10	CFAP418	PACS1	CASK	GTF2E2	CACNA1F	COL1A2	EIF2S3	MYO7A	POLR3B	LARGE1	THOC6	SMC3	GLE1	ZSWIM6	PACS2	SDHD	ABCC6	RECQL4	SMARCB1	SMARCAL1	SDHC	ATP6V1A	RAB28	ZEB2	BCL7B	SKI	ARID1A	TCF4	WAC	TCF20	CYP1B1	MKRN3	LRIT3	TRAPPC11	GJC2	TBC1D7	WDR26	NIPBL	TTC8	HACE1	SOX11	SOX5	OPN1MW	TMEM94	TARS1	SMS	ARID1B	POGZ	SLC24A1	RERE	WDR35	JAG1	CSPP1	USH2A	COL4A4	TMEM63A	POMT1	METTL27	NPAP1	AKT1	OAT	MAGEL2	DYRK1A	FKBP14	SMC1A	USF3	GPR179	TUB	ATP6V1B2	SCO2	COL5A1	PLOD1	CCNQ	ASXL1	CAMK2G	RAD21	SLC25A4	POMGNT1	ELN	VPS13B	ENPP1	P4HA2	USP9X	SNRPN	KCNH1	COL4A6	RFC2	COX7B	VARS1	MYOC	B3GALNT2	LIG4	UBE3B	PRR12	BICRA	FKBP6	BRD4	IRX5	COL9A2	BMP4	CYP4V2	TRNT1	SMARCD1	PIK3R1	FKRP	XYLT2	GPAA1	GNAT1	RAI1	PIK3CA	TIMM8A	B4GALT1	SON	POMK	LTBP2	ZNF644	KLLN	WDR19	BUD23	NONO	ZNF469	PMM2	NBAS	DNAJC30	MBTPS2	PDE6C	SLC2A10	KRAS	NR2F1	CABP4	BCL11B	COL11A1	MADD	FLII	COL4A1	PTEN	PLOD3	VPS37D	ATRX	FBN1	LOXL3	DEAF1	KIF11	BFSP2	TEAD1	UCHL1	EMC1	CBS	ADAMTS10	COL18A1	FN1	COL4A3	ZFHX4	TFE3	SNORD115-1	LRRC32	ALDH3A2	ANKRD11	DAG1	SETD5	PSMD12	COL25A1	IFIH1	ATP6V0A2	TAF1	PRDM5	ELOVL4	HNRNPK	ADAMTS17	PURA	KCNE5	NSD1	SNORD116-1	SLITRK6	AFF4	SAG	CDK8	AEBP1	EXOSC2	CANT1	KAT5	LAMA1	GRM6	MLXIPL	PRPS1	LRPAP1	VCAN	HDAC8	ARID2	IFT122	TRIT1	LCA5	NRAS	TGFBI	TBC1D24	FBXW11	XYLT1	CRYBB2	FGFR3	LIMK1	LRAT	SLC12A6	TFAP2A	ANTXR1	THG1L	POLR1C	AGBL5	RP2	RHO	FANCI	ARCN1	RIN2	TNPO2	RPE65	PPP2R5D	TKFC	CLDN19	NOTCH2	KAT6A	KDM5B	HUWE1	SLC39A5	ADGRV1	BBS1	ADAMTSL1	CTNNB1	PIGT	GRK1	CHMP1A	SOX4	TYR	CRYBA2	TFAP2B	CRIPT	SETD2	SMARCC2	SHOC2	ARL6	AP1B1	ACSL4	B3GALT6	DSE	GMPPB	NPR3	CDC45	HERC1	BLOC1S3	CACNA2D4	GTF2H5	CRYGC	CRYBB1	SMARCE1	LAMB2	NSUN2	HS6ST2	ELP1	NDUFB11	OPTN	COL12A1	GLRB	TBL2	RPGR	ERCC2	TSPAN7	PAX2	KCNV2	GJA8	PWAR1	MAN2B1	COL9A3	CHM	IFT43	APC2	SEC23B	MC1R	HTT	DPYD	GPR143	KIAA0586	MAP2K1	MAP2K2	TMEM270	OPN1LW	USP7	P3H2	BPTF	WHRN	UBE3A	NMNAT1	DPF2	MYO5A	ARR3	KDM5C	STX1A	DNAJC21	GZF1	HADHA	BAZ1B	PUF60	SPATA7	RNF113A	COL4A5	CHST14	ADAMTS2	MIR140	EFL1	RMRP	PDE6H	P4HTM	GTF2IRD2	CLDN16	MED13L	RHOA	ERBB3	COL9A1	ADAMTSL4	HERC2	PTPN11	YME1L1	CPSF1	ATP6V1E1	MED12L	GJA1	IFT52	PWRN1	OCA2	C12orf57	MBD5	CRYGD	CNGA3	ATF6	IPO8	PRIMPOL	RP1	B3GLCT	PPP1R21	SDHB	IQSEC2	CLIP2	GTF2IRD1	AP3D1	NFIX	ACOX1	IGF1	PDZD7	CRYBA4
HP_RETINAL_DEGENERATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_DEGENERATION	LAMA1	FKTN	NTNG2	HSD17B10	VCAN	ZMIZ1	SNRNP200	LZTFL1	TRMT1	CCDC28B	GNAT2	STUB1	LCA5	CNGB3	KDM4B	APOE	BBS4	ASAH1	MERTK	RLBP1	SUMF1	CP	ABCC6	PSMD12	PRPF31	MED13	DOCK3	SCN3A	PISD	XYLT1	LRAT	OPA1	MED27	RAX2	NTRK2	CLCN3	SZT2	ERCC3	IDUA	MPLKIP	IFT140	MAB21L1	COL2A1	SDCCAG8	BBS2	ELOVL4	CTSD	C1QTNF5	BEST1	CST3	NUS1	FBLN5	GABRA2	PRPH2	DLAT	ARL2BP	RHO	TULP1	FKRP	CFAP418	HK1	SCN8A	PROM1	GTF2E2	ACTL6B	RPE65	TNRC6B	GNB5	EMC10	SLC6A6	ATP1A3	CDK19	DPYSL5	YWHAG	BBS1	TPP1	TANC2	ARV1	PTPN23	TRIP12	MIR204	MCOLN1	CA2	MAPKAPK3	RPGRIP1	DDX6	PHYH	BCAS3	PLK4	TUBB4B	GUCA1A	MADD	MAPK8IP3	ARL6	KCNMA1	TLCD3B	ATP1A2	PALS1	CLN5	RIMS1	CACNA1A	KCNB1	HCN1	INPP5E	KIAA1549	FBXW11	WDFY3	SLC7A14	SYNJ1	ACTL6A	ALMS1	MMACHC	BPTF	TCF20	ABCA4	TTC8	UBA5	XYLT2	GTF2H5	CLN6	TARS1	ARSG	CRX	CFHR3	TNFRSF11B	CACNA1B	BBS9	MTTP	BCORL1	MFRP	RLIM	FBLN1	POU3F4	POMT2	ATXN7	RPGR	GABRB2	SEMA4A	ERCC2	RDH5	GNPTAB	CLCC1	KCNV2	GRIN2D	CCDC32	RS1	MYT1L	KCNJ13	TUB	HS2ST1	APOB	ANKRD17	PITPNM3	HGSNAT	WWOX	CTNNB1	SRCAP	ASXL1	SYNGAP1	SATB1	DHX38	CFI	PNPLA6	CLN3	CELF2	SLC1A2	SLC12A2	EEF1A2	MAN2B1	GRK1	KCNA2	RBP4	NMNAT1	CFHR1	IMPDH1	AARS1	RP1L1	POMT1	HTT	GUCY2D	EFEMP1	PRCD	UBR7	KMT2E	PPP3CA	RP9	CDH3	TMEM67	PPT1	GRIA4	ATP6V1A	PRPF8	HPDL	CYP4V2	TRNT1	REEP6	COL18A1	TRAK1	SPATA7	GABRG2	RNF113A	SLC19A2	CEP78	PEX7	TOPORS	FBN2	ZFYVE26	IMPG2	WDR19	SH3BP2	TRAF3IP1	ANO10	DRAM2	PANK2	PRPF4	LMBRD2	PDE6H	ALG6	ERCC8	PDE6C	POMK	TCF7L2	PUS7	ALDH3A2	ZNF423	CYFIP2	SVBP	SYNCRIP	POMGNT1	ATF6	IDH3A	SLC13A5	WRN	FGF12	DNM1	NR2E3	GABRA5	AGO2	CNGB1	CEP164	SPG11	PAX2	LMNA	CFH	RNF2	WASF1	FGF13	CNGA3	SCAPER	CFAP410	NTNG1	CNKSR2	PARS2	RDH11	SPTBN1	NECAP1	TIMP3	USP45	CLTC	CNOT3	ERCC6	CDHR1	YARS1	HUWE1	HMCN1	HLA-A	GUCA1B	DHDDS	NRL	TTC21B	KAT8	IFT172	SETD1A	SIX6	TRAPPC4	SAG	PCYT1A	GBA	AP3B2	CWC27	AIPL1	JARID2	DALRD3	LARGE1
HP_CONE_CONE_ROD_DYSTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONE_CONE_ROD_DYSTROPHY	ALMS1	CACNA1F	RPGRIP1	LZTFL1	PDE6H	PCYT1A	CRX	TTLL5	CFAP418	HMX1	SEMA4A	RAB28	ABCA4	RIMS1	SLC19A2	CACNA2D4	ADAM9	ATXN7	RAX2	CNNM4	NGLY1	POC1B	KCNV2	GUCA1A	PDE6C	PROM1	GUCY2D	AIPL1	PITPNM3
HP_ABNORMAL_CONJUGATE_EYE_MOVEMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CONJUGATE_EYE_MOVEMENT	RERE	FAM50A	ELN	NTNG2	UNC80	KAT6A	MYO9A	AGRN	ZEB2	DCC	PYROXD1	NALCN	PDE6B	CCDC28B	NDN	MACF1	EXOSC3	SMG8	PRSS12	SALL4	RRAS	DPM2	CDC42	TAF2	RIT1	YARS2	L2HGDH	FANCC	SNRPN	NDP	MYF5	HSPG2	PLA2G6	LARP7	CHCHD10	EXT2	CEP41	RAB11B	TRIP12	TMEM67	CDH2	MED27	EIF4H	TWIST2	ALDH1A3	FAM149B1	PAK1	PIGW	ATP2B3	SIX6	NYX	ERCC3	FANCF	EXOSC5	NDUFA10	ERCC4	SUCLA2	TCF12	FANCD2	MAB21L1	PAH	CCDC88C	RNASEH1	PRMT7	NODAL	SRCAP	TWIST1	HMX1	EBF3	RSPRY1	RPL10	ACOX2	PACS1	EVC2	NSDHL	CASK	SPG7	CACNA1F	COL1A2	GBA	EMC10	HESX1	PHF21A	CDH3	NDUFAF3	ERCC2	SMC3	TBX4	CHST3	CLP1	PTPN23	PNPLA6	MED25	SQSTM1	DHODH	GMNN	PUS3	SMARCB1	FZD4	NDUFS8	CPLX1	POLG	POLR1D	CYB5R3	ATP6V1A	MAD2L2	SHANK3	MED13L	FANCA	SKI	PTCH1	CLCN3	PEX6	RPL27	NCDN	PET100	ATP1A3	TGFBR1	SPTBN1	HRAS	YAP1	KDM6A	CHAMP1	DYNC2LI1	DHX37	FBXW11	WDFY3	CACNA1B	LYST	DDX6	TCF20	BRAF	RPL35A	FUS	LRIT3	TRAPPC11	NDUFB10	RPS26	NIPBL	CD96	MAGEL2	KCNA1	SOX5	TMEM94	PDE4D	TARS1	GRID2	TELO2	ARID1B	RPS15A	ZSWIM6	JAG1	CSPP1	SYT1	ALX3	GNB3	BCORL1	RLIM	WT1	NRXN1	TIMMDC1	GNB1	METTL27	NPAP1	GALNT2	DHCR7	TGFBR2	NPC2	CREBBP	PTRH2	PPP1R12A	FKTN	TMCO1	DPP6	NKX6-2	DYRK1A	DISP1	PEX11B	MYT1L	VAMP1	FLNA	GPR179	OCA2	SLC44A1	PBX1	ARNT2	PLOD1	RPL15	ZIC1	ADAT3	PAX6	ADGRG1	RTL1	RAD21	NDUFV2	POMGNT1	KCNMA1	NDUFA4	NDUFAF4	TBX1	APC	PEX13	KRAS	DHX30	NGLY1	LBR	RP1L1	OFD1	INPP5E	B3GALNT2	ATAD3A	COG8	KMT2E	TENM3	UBE3B	FBN1	KIF14	NDUFS7	DCN	NDUFAF2	FKBP6	CEP104	BRD4	PIGL	NSD1	FGFR2	HPDL	SMARCD1	DOCK6	SPATA5	HIBCH	OTUD5	SNIP1	CAMK2A	PEX16	RAI1	MTRFR	ERCC6	POMK	TGFBI	COL13A1	BUD23	GTF2E2	NDUFA12	PMM2	FANCE	ALG6	DNAJC30	FGF14	SLC2A10	TFAP2A	TCF7L2	CABP4	PHIP	PNKP	PUS7	TLK2	LGI4	FLI1	SIAH1	VPS13A	SIL1	SYNCRIP	KRT25	CHN1	CLTCL1	SCN1B	VPS37D	AASS	SLC16A2	DEAF1	EP300	SATB2	TUBB2B	IARS2	AGO2	CCNQ	IGF1R	RPS19	EMC1	KRT71	TCF4	NOG	OSGEP	MKS1	PIGT	CRYAA	ERCC8	TFE3	SLC1A3	SALL1	SNORD115-1	TRPM1	PIGU	DLL4	FRMD4A	LRRC32	TMEM138	IQSEC2	SETD5	SHH	TUBB3	AP4M1	ECHS1	TAF1	CLCN4	XRCC2	PLXND1	PAX3	KAT8	KCNE5	SETD1A	PEX5	CACNA1G	AFF4	RPS6KA3	SLC19A3	SAG	TRIP11	COX15	CDK8	BRCA1	PORCN	CACNA1A	FOXE3	PYCR2	EXOSC2	PTPN11	TCTN2	KDM6B	PIGG	NDUFB3	FKRP	GAS1	SUPT16H	HDAC8	ALDH18A1	BCAS3	TTI2	TRIT1	MTOR	VLDLR	KDM4B	HERC2	HSPD1	CTCF	RAF1	FOXRED1	CTBP1	DDOST	PHOX2A	CC2D2A	SYNJ1	CHRNE	PSMD12	PRKAR1A	ZMIZ1	FGD1	TMEM216	ALG12	RPS28	PRKCZ	GMPPA	VPS51	THG1L	CPLANE1	WARS2	CTDP1	CDKL5	RPL35	EIF2AK3	ANTXR1	SEMA3E	TNPO2	RPL5	SCUBE3	TNRC6B	NEXMIF	PPP2R5D	FGFR3	UFD1	FTL	EDEM3	DPAGT1	DDX3X	DOLK	TACO1	ADNP	ORC1	NUP133	FGF3	HLA-DQB1	SYT2	XPA	INPP5K	TFAP2B	HIRA	CRIPT	PALB2	KCNAB2	CHAT	ARL6	PIGQ	GNAS	COL6A3	FANCG	FGF10	OCRL	PEX19	DSE	SOS1	TMEM126A	ACTL6A	KIAA0753	ARX	NF1	BLOC1S3	SOST	B9D1	PDPN	CACNA2D4	ZDHHC9	NOTCH1	DDHD2	LAMB2	TMEM126B	KLF13	NSUN2	PRNP	NDUFB11	NDUFS1	UBR1	NRAS	SOS2	GLRB	GGT1	SEC24C	ALX4	SLC9A7	CLDN19	PSMC3	PAX2	BEST1	TRIM37	XPC	GRIA4	HS2ST1	ANKRD17	TUBGCP6	MYH3	APC2	AFF3	EXOSC1	ALG3	DNMBP	POGZ	GGCX	SOX2	SREBF1	NDUFS3	SATB1	GMPPB	PIK3R5	ZEB1	DDB2	GPR143	PQBP1	SPEN	H1-4	KIAA0586	MAP2K1	ZNF423	BLOC1S5	USP7	UBE3A	GATAD2B	NMNAT1	CA8	CEP83	TDGF1	MYO5A	NDUFS4	ASCL1	KATNIP	PGAP3	PHGDH	SLX4	MAPT	CNOT3	MPDU1	COL12A1	POMT2	PIGY	DVL3	DGUOK	KIAA1109	KIF7	BAZ1B	GRM6	ATM	RNF2	GJB6	NEU1	FMR1	CDCA7	MAN2B1	KCNC3	ANKRD11	CYP1B1	MAP3K7	RRAS2	TRAF3IP1	ERMARD	ABCC8	UBE2A	RMRP	SIN3A	SHROOM4	ARHGEF2	NOP56	ATP13A2	TCTN3	RAB39B	SVBP	RPGRIP1L	PDE6D	HYLS1	SEC23A	CENPJ	ATP1A2	FOXL2	OPA1	IDH3A	ABCB7	WDR81	UBE2T	FOXC1	SUFU	TAOK1	DLK1	SCO2	HACE1	CHST14	FBLN5	MED12L	NDUFA11	C9orf72	SPG11	ARL3	POU4F1	ZNF292	ASXL3	SLC35A2	MBD5	INTS1	WASF1	RORA	PTEN	SLC35C1	NFIX	ADSL	ROBO3	TMEM231	COL4A2	RPL31	ALG11	OTX2	COL2A1	NDUFA6	SYNE1	MED12	PEX12	RFWD3	SON	DLG3	RPS29	MT-ND1	TSR2	RREB1	CLIP2	MN1	CBL	CYB5A	TMEM237	GTF2IRD1	TRAPPC6B	MID2	PCYT1A	AP3D1	RBM8A	SLC2A1	NUBPL	SMAD4	CHD3	COMT	ACADSB	NAXE	ALS2	MYO1H	CEP120	TRMT1	GATA1	RAD51	NDUFA13	HK1	KANSL1	DPM1	DNM1L	FRMPD4	AP4B1	AMMECR1	KIDINS220	NDUFV1	GTF2I	TBCD	SCN2A	NCF1	MRPS34	ROR2	DOCK3	MAPK8IP3	ERF	MT-ND3	FBXO11	KDM1A	YY1	SUCLG1	TOR1A	AHDC1	AGK	NELFA	POLR1C	KRT74	RPL18	TRIO	ALG1	AHI1	KIF21A	SBF1	MPLKIP	SLC25A1	LETM1	GRIK2	NDUFS2	MAN1B1	COL11A2	FIBP	ARHGAP31	NDUFS6	SMARCA4	SURF1	SOBP	BRPF1	NDUFAF1	ACTL6B	PEX14	EIF2S3	ATG7	MADD	COLEC11	FANCL	FA2H	TSEN15	DPYSL5	LARGE1	PTCH2	GNAO1	RAX	MID1	PLK4	TUBGCP4	PACS2	NR2F1	LRPPRC	KDM5C	WAC	TBCK	NEDD4L	RECQL4	SGPL1	MRAS	STRADA	HNRNPU	L1CAM	IRF2BPL	WDR73	BCL7B	FGFR1	AP4S1	MYOD1	PPM1D	LYRM7	ARID1A	PEX1	MDH2	MKRN3	BPTF	RPS10	SIX3	WDR26	TASP1	HPS5	SALL2	CDON	TOPORS	SOX11	NPHP1	HMGB3	ATRX	AUTS2	PRDM16	CHD7	SLC24A1	AP4E1	NAGA	SMAD3	GJC2	VPS53	PIGN	NXN	PROKR2	NHS	POU3F4	HOXB1	POMT1	TANGO2	NSD2	BRF1	COL6A2	FANCB	CCDC32	DVL1	TBL1XR1	FIG4	CDK13	AKT1	ALG9	FANCI	SMC1A	FCSK	CAMTA1	ATP6V1B2	IKBKG	PITX2	SPTLC1	FBXL3	SIGMAR1	CCDC174	ERLIN2	SLC25A4	POLR2A	PSAP	ASXL1	USP9X	SLC12A2	RFC2	SLC17A5	NDUFA9	SLC25A46	UBR7	LIG4	SIM1	MFRP	PRR12	GRM1	ZIC2	BICRA	SPRED2	VSX1	ATP8A2	SLC5A7	CLDN11	ERCC5	ATR	TGIF1	MCOLN1	PGAP2	GNAT1	FOXP1	MEF2C	VPS13B	ADD3	ABHD5	AP3B1	ELOVL4	SIK1	ACKR3	FOXH1	TWNK	NONO	REV3L	NBAS	RAD51C	GNA14	GRM7	TCOF1	CLTRN	ADARB1	DMXL2	GALC	COL11A1	FLII	ATOH7	RPS24	MEG3	HNRNPH2	COL4A1	GFPT1	LAGE3	WNT5A	PEX26	ADA2	HHAT	COG5	DHCR24	FN1	ZFHX4	PDHA1	PRSS56	ARL13B	NTNG1	GLI2	CHRNG	TMEM222	CRB1	GRIN1	ACOX1	SETX	NDUFA2	SCN8A	COL25A1	ATP6V0A2	COQ8A	DCTN1	BRCA2	KMT2A	GP1BB	SNORD116-1	AP1S2	AEBP1	SARDH	BCOR	SLC6A19	KAT5	LAMA1	EOGT	MLXIPL	NDUFA1	NDUFB9	TYR	NDUFAF5	TYRP1	ARID2	CAMK2B	NEUROD2	LCA5	MCTP2	TBC1D24	PRPS1	MED13	CTSK	SPECC1L	LIMK1	GDF5	LRAT	SLC39A8	GNAQ	SLC12A6	RPS17	RPS7	PUF60	HSD17B4	KMT2D	PIBF1	SPOP	DLG4	KCNJ13	CHRNA7	RHO	LARS2	DLAT	CEP152	UBE4B	TCTN1	LMX1B	ARVCF	RPE65	GLI1	SNAP25	TKFC	NDUFAF8	CDH11	NHLRC2	KDM5B	HUWE1	COL6A1	RPS27	BBS1	DDB1	MPDZ	HPS6	PURA	CTNNB1	TANC2	MT-ND2	BCAP31	ERCC1	GRK1	CHMP1A	MAB21L2	ATXN1	FZD2	SOX4	METTL5	DKC1	CEP290	LMNB1	SETD2	SMARCC2	SHOC2	TBX15	RPS20	ACSL4	LIPH	PALS1	PIGV	NANS	TET3	SCN4A	GRHL2	CLCN6	TBC1D23	MMP23B	SOX3	CDC45	KIF15	FARS2	ZNF407	GTF2H5	STXBP1	SMARCE1	EVC	POLR3A	GNB2	BBS9	DACT1	SLC37A4	PEX2	TMEM240	TBL2	ALDH4A1	KCNV2	PWAR1	AP1G1	IL1RAPL1	MAFB	RIC1	ADPRS	VCP	RASA2	FANCM	TRIM8	HOXA1	FGFRL1	FGF8	MC1R	ACO2	NDUFAF6	THOC2	GK	OPHN1	TARDBP	DPYD	STAG1	MAP2K2	TMEM270	BRIP1	SDHA	EXOC8	NCAPG2	ZC4H2	LONP1	DPF2	HTT	COL8A2	SSR4	HECW2	CBY1	B3GAT3	RNF135	SLC25A24	STX1A	AHCY	BCL11A	LIPT1	HADHA	COL18A1	EFNB1	MTFMT	SPATA7	RNF113A	DNMT3A	RPL11	SLC18A3	CASZ1	POLR1B	LMBRD2	RPL26	SLC9A6	GATA4	LZTR1	PIEZO2	P4HTM	JMJD1C	TBK1	SPTBN2	GTF2IRD2	CLDN16	RHOA	ARMC9	PIGO	YME1L1	SLC6A8	LPAR6	ATP6V1E1	NPC1	CACNA2D2	LUZP1	GJA1	PWRN1	RET	TMEM98	RRM2B	KIF22	PEX10	AGTPBP1	HOXA13	EZH2	SHMT2	TREX1	LEMD3	GABRD	MCM3AP	DLL1	DAB1	OVOL2	GLRX5	PPP1R21	PIGP	RBPJ	TRAPPC4	SLC25A22	ALG2	JARID2	PEX3	PHOX2B	SLC38A8
HP_UNDETECTABLE_ELECTRORETINOGRAM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNDETECTABLE_ELECTRORETINOGRAM	HSD17B4	NR2E3	CLN8	PPT1	FLVCR1	POMGNT1	LCA5	MYO7A	KIZ	PDE6D	LRAT	SPATA7	NRL	PROM1	CLN3	CRB1	RPE65	TULP1	CLCC1	RPGRIP1	USH1C	CRX	NMNAT1	EYS	PRCD	TPP1
HP_COLOR_VISION_DEFECT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COLOR_VISION_DEFECT	CNGA3	CABP4	OPN1LW	POLG	PRKN	OPA1	GNAT2	PDE6B	CACNA2D4	AIPL1	LCA5	DCC	PITPNM3	CFAP418	POC1B	CNGB3	DNM1L	PARK7	CDHR1	TIMM8A	FGF17	PINK1	TACR3	GUCA1A	RAX2	VPS13C	LRAT	HESX1	OPN1MW	GUCY2D	PROKR2	NYX	NMNAT1	RAB28	MORC2	RPGRIP1	ELOVL4	BEST1	PRPH2	ATF6	FGFR1	NDNF	RHO	OPA3	FEZF1	FA2H	GRM6	GNAT1	TULP1	OPN1SW	SPATA7	ABCA4	CEP78	RLBP1	RPE65	CCDC141	CACNA1F	CNNM4	IMPG1	UNC119	TK2	NBAS	CFAP410	PROM1	PDE6H	FGF14	AFG3L2	PDE6C	MFN2	GRK1	RPGR	RTN4IP1	HTRA2	SEMA3A	CYP4V2	NR2E3	RIMS1	HS6ST1	OFD1	ADAM9	CHD7	TLCD3B	TMEM126A	SYNJ1	TRPM1	SNCA	IMPG2	MTRFR	DNAJC6	SEMA4A	MTTP	IL17RD	DUSP6	C1QTNF5	PODXL	ACO2	FLRT3	CRX	TTLL5	PROK2	SLC24A1	UCHL1	ANOS1	GNB3	SPRY4	SAG	FGF8	SOX10	DRAM2	LRIT3	LRRK2	WDR11	GPR179
HP_TRITANOMALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRITANOMALY	OPA1	GUCY2D	OPA3	C1QTNF5	DNM1L	OPN1SW	NR2E3
HP_ABNORMAL_UVEA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_UVEA_MORPHOLOGY	MAF	NDE1	SEM1	MYO5A	ZEB2	B3GALNT2	NDN	STUB1	RB1	MAT2A	COX7B	APOE	FANCC	SNRPN	BCOR	NDP	PEX3	CEP41	TRAPPC11	NF1	TMEM67	SOS1	EIF4H	ALDH1A3	SIX6	FANCF	ERCC4	OVOL2	FANCD2	LRP2	B9D1	NODAL	FBLN5	HMX1	SALL4	DLST	CASK	TGFBR2	DIS3L2	CYSLTR2	SNAI2	RNU7-1	SEMA3E	PNPLA6	MBTPS2	TSC1	NRAS	NLRP3	FZD4	CPLX1	POLR1D	MAD2L2	FANCA	GUCY2D	PROM1	PTCH1	PEX6	CNGB3	SPTBN1	YAP1	ABCC6	LYST	DDX6	FGFR1	GRHL2	MIF	PEX12	BAP1	MAGEL2	C1QTNF5	ELP4	CRX	TONSL	RERE	JAG1	ALX3	CTNNB1	ABCA4	WT1	GATA1	FOXE3	METTL27	NPAP1	CREBBP	OAT	PRPH2	MYH11	DISP1	PEX16	VHL	OCA2	LACC1	AIRE	IDS	PAX6	HCCS	POMGNT1	BDNF	REST	ELN	H19	CFI	VPS13B	CRB1	SDHAF2	FAM111A	RBP4	HPS4	INPP5E	TUBGCP6	KIT	TENM3	TNFRSF1A	PEX26	FKBP6	CEP104	UBE3A	CYP4V2	PEX5	TSC2	ACTA2	BTNL2	PDE4D	ERCC6	POMK	PDCD10	MITF	CLCNKB	BUD23	TRIP13	PTPN22	FANCE	DNAJC30	TFAP2A	NLRP1	FLI1	PEX14	BRCA2	HLA-DRB1	IGBP1	FAS	TSPAN12	KRT25	LRP5	VPS37D	SMAD4	KIF11	CRPPA	TEAD1	SMAD2	IGF1R	MT-TL1	STIM1	KRT71	TMEM107	GDF3	PIK3R1	MKS1	CRYAA	ERCC8	TP63	CSPP1	WNT10B	MT-TE	SALL1	SNORD115-1	PITX2	POMT2	CDH23	TMEM138	MYLK	EP300	LMX1B	FGFR2	SHH	HEY2	XRCC2	TMEM127	NDUFB11	PAX3	ACTB	RNF216	BRCA1	VSX2	PORCN	TCTN2	SOX10	PIGG	GAS1	SAG	VCAN	SOX2	MIR184	PRKCD	GNA11	HERC2	CTBP1	C12orf57	ACTG1	CC2D2A	PRKAR1A	TBX22	TMEM216	PRKCZ	GMPPA	CENPF	CPLANE1	TMEM237	LARGE1	CLDN19	EDNRB	ADGRV1	ADAMTSL1	FSCN2	CD27	ASPH	FOXC1	FKTN	MLPH	CEP290	PALB2	KCNAB2	CHM	HPS1	WASHC5	FANCG	OCRL	FBN1	PTPN2	MYOC	RPGRIP1L	MDH2	SDHB	SMO	BLOC1S3	PDPN	XYLT2	MYO7A	TGFB3	ELP1	COQ2	MAPK1	BEST1	GJA8	TRIM37	TMEM231	ARSG	B9D2	PEX1	ALG3	HSPG2	RET	POGZ	MT-TK	PEX11B	ZEB1	RSPO2	GPR143	SPEN	ZNF423	BLOC1S5	WHRN	DLX5	DPP6	TDGF1	IL2RB	EFEMP1	KATNIP	KITLG	SLX4	FKRP	HLA-B	BAZ1B	TCTN3	SF3B1	SDHC	FBN2	LTBP2	TXNDC15	MSH6	ENPP1	SIN3A	UBE3B	KRAS	CCDC22	HYLS1	TYR	UBE2T	NOD2	GPR35	SUFU	PEX2	FGF3	MED12L	PAX2	ARL3	FH	CRYGD	PTEN	USH1G	SLC25A15	IMPG2	ESPN	AAAS	TIMP3	RFWD3	SDHA	EPG5	HLA-A	ADAMTSL4	B3GLCT	CCM2	PCDH15	ACVRL1	NRL	CLIP2	GTF2IRD1	BCL10	PCYT1A	AP3D1	CPAMD8	FASLG	DCT	TGFBR1	CEP120	RAD51	TRIM44	ZNF408	GTF2I	NCF1	SLC25A11	KRIT1	DAG1	ERF	SLC24A5	TCF4	NELFA	POLR1C	KRT74	AHI1	EPHA2	LETM1	KANSL1	CASP10	CHD7	FANCL	PTCH2	PAH	RAX	GNAQ	MAPKAPK3	TRIM28	SMAD3	STAT4	WDR73	BCL7B	COL4A1	TGFB2	WAC	CYP1B1	MKRN3	SIX3	BIRC3	SLC45A2	ATP10A	HPS5	IL6	IMPG1	POMGNT2	SALL2	CDON	NPHP1	PRDM16	CFHR3	KIF1B	HARS1	OTX2	FBLN1	KIAA0586	POU3F4	USH2A	NSD2	EDN3	ITPR1	FANCB	AKT1	ARL6IP6	FANCI	LRBA	IKBKG	AGXT	BLOC1S6	SMCHD1	DNASE1L3	RFC2	MICOS13	CFHR1	LDHD	TKT	PRKG1	MFRP	PRR12	ZIC2	VSX1	TGIF1	POU6F2	FLNA	BLM	AP3B1	FOXH1	RAD51C	TCTN1	TCOF1	DTNBP1	ATOH7	BTRC	PMP22	HHAT	ANKRD55	IL2RA	MT-TS2	PRSS56	ARL13B	ROR1	GLI2	CFH	CHRDL1	TBX2	ADAMTS17	SRD5A3	SNORD116-1	SDHD	BMP4	NOTCH3	MLXIPL	TNFAIP3	VPS35L	TYRP1	IRF4	LCA5	KCTD1	CRYBB2	LIMK1	ATP6V1A	XYLT1	LRAT	MPZ	RXYLT1	UROC1	LOXL1	ELOVL4	PIBF1	RP2	RAB27A	FOXP1	UBE4B	CAPN5	EPS15L1	RPE65	NOTCH2	VPS33A	MPDZ	HPS6	MFAP5	ERCC1	POMT1	MAB21L2	TUBGCP4	GUCA1A	CD247	LIPH	PEX19	GMPPB	MMP23B	CLCN2	CRYGC	CRYBB1	DACT1	NAA10	RPGRIP1	TBL2	LAMB2	PWAR1	WNT3	MAFB	CHN1	HRAS	FANCM	ADNP	DHCR7	LOX	FGFRL1	FGF8	MC1R	ANK1	DYRK1A	PHOX2B	TMEM270	BRIP1	RASGRP1	SEMA4D	PEX10	PEX13	EYS	COL8A2	CBY1	SIM1	STX1A	GPC3	ADAMTS18	GZF1	HADHA	TINF2	COL3A1	PUF60	SPATA7	HS2ST1	CASZ1	POLR1B	USH1C	CEP78	GTF2IRD2	CIB2	ROM1	RHOA	ARMC9	LPAR6	LUZP1	MST1	GJA1	MAX	PWRN1	B4GAT1	TMEM98	SH3TC2	MMP2	TBR1	GABRD	SKI	CLRN1	MMP14	HMCN1	RLBP1	DLL1	KIFBP	ALG2	PDZD7	DLX6	CRYBA4	DHX16	MALT1
HP_UVEITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UVEITIS	IKBKG	FASLG	CD27	LACC1	AIRE	NLRP1	HLA-DRB1	TNFAIP3	FAS	ATOH7	NLRP3	STUB1	IRF4	NOD2	CD247	GPR35	PRKCD	TKT	STAT4	ERCC8	MST1	DNASE1L3	RASGRP1	BTNL2	SEMA4D	ANKRD55	IL2RA	PTPN2	IL2RB	TCF4	BIRC3	TNFRSF1A	IL6	MIF	PTPN22	HLA-B	ERCC6	FOXP1	CASP10	CAPN5	BLM	ERCC4	BCL10	MBTPS2	LRBA	MALT1	ERCC1
HP_LEUKOCORIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEUKOCORIA	FZD4	NDP	ATOH7	ARL6IP6	TINF2	RB1
HP_RETINAL_DYSTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_DYSTROPHY	HYDIN	TIMP3	INPP5E	TMEM237	BBIP1	LZTFL1	CEP120	B3GALNT2	PDE6B	CEP290	CCDC40	NYX	CCDC28B	ADGRV1	EXOSC3	PDE6G	HK1	LRAT	GRK1	BBS4	MT-ND3	TRPM1	GATA3	OTX2	RLBP1	FLVCR1	DNAAF2	ARL6	CEP41	DAG1	USH1G	PRPS1	AHI1	HCCS	IMPG1	PEX7	PCDH15	SDCCAG8	LRP2	ODAD4	CTSD	MFSD8	LRRC56	WDR19	HMX1	RSPH1	CACNA1F	KLHL7	TULP1	RPL10	CFAP418	OFD1	ARMC9	BBS7	TMEM216	CDH3	IFT172	PEX5	DNAH1	IQCB1	MAPKAPK3	RPGRIP1	PHYH	PDE6H	SRD5A3	ARV1	RAB28	RIMS1	PDZD7	CFAP300	CLCN3	TRNT1	RAX2	RSPH9	COL4A1	SLC7A14	MDH2	ALMS1	NPHP4	LRIT3	PMM2	PRPF3	POMGNT2	TTC8	NPHP1	HACE1	IFT140	ODAD3	SLC19A2	CRX	TELO2	POGZ	SLC24A1	CSPP1	GNB3	DNAJB13	ATXN7	SEMA4A	CREBBP	MT-TW	PGK1	PRPH2	RPGR	CNGA1	SAG	RPGRIP1L	GPR179	TUB	ZPR1	PITPNM3	DHDDS	MT-ND1	CABP4	CCNQ	NEK2	PNPLA6	PEX11B	DNAH5	VPS4A	DDR2	DHX38	PANK2	VPS13B	CLN3	DNAAF11	ARL3	SPAG1	AIPL1	ODAD1	NGLY1	IDH3B	RBP4	IMPDH1	PRCD	TUBGCP6	MKS1	CLRN1	RP9	DNAAF4	TMEM138	CFI	RNF113A	BMP4	MT-TK	REEP6	GNAT1	CCDC65	IMPG2	PEX6	DRAM2	PDE6A	NPHP3	POMK	ALG6	RNU4ATAC	BBS2	TMEM67	CFAP410	HSPD1	ZNF513	PEX14	MYO7A	RCBTB1	CRPPA	GAS2L2	RHO	NR2E3	FAM161A	CNGB1	MT-TL1	ADAM9	ODAD2	MT-TE	MT-ND6	KIF11	POMT2	RDH11	MTTP	EP300	PGAP1	COX7B	PEX13	PEX19	ACOX1	BBS5	CDHR1	GUCA1B	CFH	ZNF408	NDUFB11	BCS1L	RGR	RNF216	PDE6C	MVK	MKKS	CFAP221	EXOSC2	PEX1	LAMA1	GRM6	ZMYND10	SYCE1	DRC1	HSD17B10	SNRNP200	ASPA	ITM2B	MERTK	PEX12	PRPF31	CEP164	TTC12	MT-ATP6	BBS12	RXYLT1	CFAP298	RDH12	CRB1	BEST1	C1QTNF5	GAS8	RP2	WARS2	DNAAF3	ARL2BP	ABCA4	PROM1	RPE65	LARGE1	CNNM4	PEX10	CC2D2A	SH2B1	PEX2	DPAGT1	NDUFA9	BBS1	SPEF2	FSCN2	AP3B2	DYNC2I2	ATXN2	POMT1	SLC35A2	FKTN	PCARE	DNAI1	RSPH3	MCIDAS	FDXR	TRAPPC9	AHR	ACBD5	DNAAF1	KIF3B	USH2A	CACNA2D4	HGSNAT	BBS9	MFRP	CLDN19	PEX26	USH1C	KCNV2	ELOVL4	CDH23	APOB	DNAAF6	PEX16	ROM1	GGCX	ACO2	CHST6	ANK1	KIZ	STK36	RP1L1	KIAA0586	ZNF423	IFT27	DNAL1	CCDC39	CCNO	RDH5	EYS	INVS	GUCY2D	MYO5A	EFEMP1	KIF5A	GRN	FOXJ1	FKRP	DNAJC21	IFT74	DNAAF5	PCYT1A	RSPH4A	TTLL5	PRPF8	WHRN	DNAH9	POMGNT1	COQ2	TOPORS	TRAF3IP1	PRPF4	DNAI2	MT-TV	ERCC8	CIB2	MYO6	IFT122	UBE3B	RBP3	MT-ND2	CCDC103	PPP2R3C	BBS10	PEX3	MAK	MT-ND4	POC1B	B4GAT1	CERKL	ABHD12	TMEM231	ARL2	FGFR2	NEK10	ERCC6	RP1	MT-ND5	PRPF6	CRYAB	NRL	NEK1	DNAH11	SIX6	TMEM218	NME8	GUCA1A	CWC27
HP_BUPHTHALMOS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BUPHTHALMOS	CYP1B1	GNAQ	MAB21L1	FKTN	ATOH7	DAG1	FUT8	FZD4	SBF2	POMGNT1	GLIS3	TWIST1	FKRP	NDP	PXDN	POMT2	OCRL	FGFR2	NCAPG2	SH3PXD2B	POMT1	PTEN	AKT1	ADAMTSL1	LARGE1
HP_RIEGER_ANOMALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIEGER_ANOMALY	IGF1R	PIK3R1	LAMB2	CTBP1	FOXC1	ADAMTSL1	PAX6	NSD2	CPLX1	FGFRL1	PITX2	LETM1
HP_CORNEAL_SCARRING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORNEAL_SCARRING	TGFBI	UROS	COL7A1	NTRK1	GJB2	CREBBP	NCAPG2	NGLY1	MMP1	ZNF469	COL17A1	POLA1	DST	PRDM5	EP300	PRDM12
HP_LACRIMAL_DUCT_ATRESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACRIMAL_DUCT_ATRESIA	TP63	PAX3	NDUFB11	IGSF3	SMCHD1
HP_CHORIORETINAL_COLOBOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHORIORETINAL_COLOBOMA	RPGRIP1L	TMEM237	CCDC22	ZEB2	VPS35L	CEP290	INPP5E	ZNF423	SALL1	WASHC5	PAX6	GDF3	SPTBN1	HHAT	C12orf57	NAA10	YAP1	PTEN	WAC	CC2D2A	SHH	TMEM231	TBX22	TMEM138	TMEM216	TMEM67	CHD7	RERE	DACT1	GZF1	HMX1	SALL4	RBP4	SEMA3E	CASK	PORCN	ACTB	SIX6	CLDN19	BCOR	BMP4	AKT1	MAFB	CHN1
HP_ABNORMAL_SACCADIC_EYE_MOVEMENTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SACCADIC_EYE_MOVEMENTS	SLC6A3	VAMP1	SLC44A1	ITPR1	SOX3	UBAP1	FBXO7	EEF2	ALS2	MAPT	PLA2G6	MRE11	SLC1A3	GBA	TPP1	INPP5E	ATXN7	PIK3R5	FXN	GRM1	SCO2	NOP56	SURF1	GDAP2	PLD3	PNKP	ATXN1	ATP2B3	SYT2	TMEM216	MYORG	ELOVL5	KIF1A	ATP13A2	COQ5	CHP1	ANO10	AFG3L2	PEX10	SYNE1	PEX2	VPS13D	MFN2	SPTBN2	ATXN2	VPS13A	SLC35A2	SNX10	KIF1B	GJC2	ATP1A2	MME	SNCA	SCYL1	TCIRG1	DNAJC6	APTX	DARS2	SCP2	CLCN7	ATP1A3	TUBB3	C19orf12	TNR	CACNA1A	AGTPBP1	ATXN8OS	TNFSF11	SHMT2	NDUFS2	PDYN	NDUFB8	ATXN3	NPHP1	FGF14	GBA2	TMEM240	NKX6-2	PRNP	VPS41	CACNA1G	NDUFAF3	XRCC1	DHX16	TGM6
HP_HYPOMETRIC_SACCADES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOMETRIC_SACCADES	APTX	GRM1	MRE11	CACNA1G	GBA	MYORG	MME	NKX6-2	PLA2G6	SPTBN2	SLC1A3	NPHP1	MAPT	COQ5	DNAJC6
HP_VISUAL_LOSS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VISUAL_LOSS	MT-ND6	HSD17B10	VCAN	CEP120	TCF4	TGFBI	SOX2	MKS1	BRAF	POLA1	ABCD1	TRIM44	ZNF408	MT-CYB	TAT	APOE	MT-ND1	HLA-B	GNA11	MERTK	FBN1	FLVCR1	PLA2G6	TIMM8A	CEP164	ZNHIT3	CEP41	POLG	PSAP	PRPS1	KARS1	CLCN7	AHI1	HCCS	BAP1	MT-TW	HSD17B4	IFT140	LRP2	CFH	CTSD	C1QTNF5	MT-TH	MT-ATP6	SMARCE1	NF2	NHS	ZNF469	RHO	PEX7	ABCA4	MT-CO1	C19orf12	TRAF7	ELMO2	MT-ND4L	NEU1	SMO	SLC4A11	CYSLTR2	PAX6	MYO7A	MT-ND4	ADGRV1	TPP1	CLN8	AKT1	MFN2	GNAQ	WAC	PRPH2	VHL	CYP1B1	SRD5A3	CHM	GUCA1A	CTNNB1	CD247	MT-ND5	CLN5	STAT4	MT-TF	GALC	ST3GAL5	RAX2	SPTBN1	TUBB3	COL8A2	SMARCB1	PTPN2	KIAA1549	ALMS1	NPHP4	NF1	MT-CO3	NPHP1	COL7A1	SUFU	SOST	P4HA2	GJB2	BTD	MT-CO2	CLN6	PMPCB	SLC19A2	FGFR2	CFHR3	HARS1	NOTCH3	CSPP1	MT-TL1	USH2A	TERT	PDGFB	ATXN7	SEMA4A	RDH5	PGK1	USH1C	RS1	GATA2	CEP290	PIK3CA	ARSG	PTPN22	ZEB1	FOXC1	LTBP2	ALPK1	NHLRC1	PNPLA6	NDUFS2	GNAS	RP1L1	COX6B1	CFI	SMCHD1	KIAA0586	CLN3	WHRN	LCA5	TREX1	CFHR1	INPP5E	MT-TS2	INVS	IL2RB	EFEMP1	ATP1A3	SLC25A46	SLC52A2	OPA1	CARS2	AGBL1	DCN	CDH23	PPT1	PCYT1A	CYP4V2	MT-ND2	KCTD7	TEK	COL2A1	HADHA	COL18A1	XYLT2	MMP1	FA2H	SF3B1	SON	COQ2	POLG2	MFSD8	EPRS1	ARL3	RLBP1	LSS	NPHP3	NBAS	CEP78	SPATA7	WDR19	HLA-DRB1	LAMC3	SH3BP2	CIB2	OAT	NOD2	TCOF1	KIF1A	UCHL1	PEX13	SDCCAG8	EPM2A	ADAMTS10	AIP	COL17A1	KIF11	USH1G	COL4A1	RDH11	IL2RA	MTTP	COX7B	ESPN	ANKRD55	TIMP3	MEN1	TFG	CFAP418	CLRN1	CDHR1	HMCN1	HLA-A	PRDM5	MYOC	PCDH15	CA2	NDUFB11	TRAF3IP1	DNAJC30	GJB6	PHYH	GUCY2D	MT-TQ	PDZD7	DNM1L	BCOR	TBC1D24	IQCB1	TNFRSF11A
HP_RETINAL_HEMORRHAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_HEMORRHAGE	IKBKG	COL4A1	CFI	GCDH	XYLT2	ABCC6	TERT	CFHR3	ERCC6	HMCN1	ATP6V0A2	CFH	PRF1	APOE	ATP6V1A	ENPP1	ATP6V1E1	DNM2	TERC	IFNG	TREX1	CFHR1	XYLT1	SBDS	ERCC8	EFEMP1	MYD88
HP_THICK_EYEBROW	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICK_EYEBROW	SMC3	SMAD4	SPEN	SMARCB1	HDAC8	RAD21	CUL7	ATP6V1B2	GNS	ARID2	BCAS3	MGAT2	LEMD3	ABCC9	FBXL4	NSUN2	DOCK7	FREM1	NIPBL	NFIX	VPS13B	GPRASP2	SLC6A17	CTCF	AFF4	MAN2B1	ANKRD11	KCNH1	BPTF	IARS2	FOXL2	SPECC1L	PAX3	AIFM1	KMT2A	RPS23	DPF2	SOX6	CNOT2	KCNK4	SUMF1	LAS1L	CDON	HECW2	SIM1	HMGA2	B3GAT3	PUF60	PRR12	KDM5C	CREBBP	RBM10	BICRA	KIFBP	SLC25A24	BRD4	TMCO1	SMARCC2	RUSC2	SMARCD1	IDUA	EBF3	TAF1	SMARCA4	FBXO31	MEF2C	NOTCH2	COL1A2	KMT2C	FRMD4A	RNF125	NBAS	TAF6	SLC9A6	DDB1	PRKG2	CHD1	CHST3	ERLIN2	PHIP	WAC	TBCK	SLC35A2	DNMT3A	RALGAPA1	SOX4	AUTS2	TRIO	KCNJ8	TUBGCP2	ABCA5	SHANK3	TP63	ARID1A	CLCN3	SMC1A	SPTBN1	PHF6	CCDC8	SMARCA2	ASXL3	SETD1B	MBD5	KCNN3	WNT4	TFAP2B	UBR7	GUSB	TASP1	EXT1	FUCA1	EP300	SOX11	CDH11	MAP3K7	PSMD12	SMARCE1	SATB1	ARID1B	GNB2	ZSWIM6	KNL1	OBSL1	PPP1R21	MN1	TRPS1	ACER3	RPS6KA3	MAGEL2	RET	BCOR
HP_SCOTOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCOTOMA	ARSG	OPA1	GNAT2	MT-CYB	CNGB3	DNM1L	NDUFS2	ITM2B	MT-ND1	TIMM8A	WHRN	MYOC	EFEMP1	SLC25A46	CFI	ELOVL4	MFSD8	C1QTNF5	MT-ATP6	CYP4V2	MT-ND2	TRNT1	OPA3	RHO	MTRFR	ABCA4	IMPG2	RLBP1	MT-ND4L	MYO7A	MT-ND4	PROM1	PDE6H	USH1C	ADGRV1	CEP78	PDE6C	ATP1A2	MFN2	CFAP410	CIB2	BTD	MT-ND6	FLVCR1	MT-CO3	RTN4IP1	ATF6	RBP3	MT-ND5	MT-CO1	RAB28	FDXR	POC1B	TMEM126A	DNAJC30	MT-TS2	CNGA3	CYP1B1	USH1G	CDH23	PRPF3	CACNA1A	CACNA1F	MTTP	ESPN	PRPH2	HKDC1	ACO2	CRX	HARS1	CLRN1	HLA-A	CFH	PCDH15	SCN1A	USH2A	PRRT2	RPGR	RDH5	KCNV2	PDZD7
HP_CENTROCECAL_SCOTOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTROCECAL_SCOTOMA	MT-ND4L	MT-CO3	MT-ND6	MT-ATP6	DNAJC30	MT-ND2	MT-ND4	OPA1	MT-ND1	MT-CYB	NDUFS2	MT-ND5	MT-CO1
HP_NASOLACRIMAL_DUCT_OBSTRUCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NASOLACRIMAL_DUCT_OBSTRUCTION	CD151	SMC3	PRR12	EP300	NOP10	TP63	KAT6A	PIK3CD	FGFR3	SIX1	HMX1	TAF1	FGF10	TCOF1	PPP1CB	KNSTRN	PTDSS1	TET3	CREBBP	FREM1	NHP2	YY1	PAX1	SOX6	EYA1	FGFR2	MED12	TFAP2A	IGSF3
HP_PIGMENTARY_RETINOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PIGMENTARY_RETINOPATHY	PNPLA6	FKRP	MT-ND6	SAG	SNRNP200	LZTFL1	NDUFA13	LCA5	COX7B	MT-ND3	IFT172	FLVCR1	ARL6	PRPF31	HADHA	SDHA	PISD	LRAT	MED12	NDUFAF5	MT-TW	SDCCAG8	NDUFA10	MORC2	BBS9	IFT27	MSTO1	RNASEH1	HADHB	NDUFS2	MT-TH	RP2	BBS5	FOXRED1	SURF1	RHO	TULP1	IFT74	ABCA4	PROM1	MT-CO1	RPE65	CEP290	CEP19	MT-ND1	RNU4ATAC	NDUFV1	LARGE1	TACO1	FSCN2	BBS7	PCARE	CAV1	POMT2	ERCC8	MKS1	MT-TF	NDUFS4	PET100	AMACR	KIAA1549	MMACHC	MT-CO3	TTC8	HKDC1	MT-CO2	ARSG	CRX	JAG1	MFRP	MT-TL1	POMT1	ERCC4	RDH5	CLCC1	ZFYVE26	CNGA1	TRIM37	CTNS	HADH	NDUFS8	ALMS1	AIRE	NR2E3	NDUFAF6	TRIM32	NDUFV2	HCCS	BBS12	KIZ	NDUFA4	ATXN7	NDUFS3	PANK2	VPS13B	ARL3	BBS4	COA8	NCAPG2	ERCC3	BBS1	SDHB	NGLY1	IDH3B	IMPDH1	RP1L1	NDUFA9	GUCY2D	EYS	MT-TS2	NOTCH2NLC	GMPPB	PRCD	PRPH2	POMGNT1	RP9	PRDX1	NDUFAF2	ISCA1	LIPT1	GSS	PEX5	MT-TK	USH2A	NDUFB11	MKKS	MTFMT	SPATA7	ERCC6	MFSD8	SCAPER	IMPG2	RLBP1	MT-ND5	PDE6A	WFS1	BBS10	NDUFA12	MT-TV	MT-ATP6	MT-TN	BBS2	COX8A	ROM1	ZNF513	IDH3A	MT-ND2	CLRN1	CYP4V2	BBIP1	FAM161A	CNGB1	ARL13B	MT-ND4	PEX1	WDPCP	RRM2B	CFAP418	NDUFS7	PDHA1	POLR3A	TIMP3	ACOX1	NDUFA2	RP1	NDUFS1	ECHS1	SDHAF1	AHI1	NPHP1	SDHD	BEST1	PEX2	SLC19A3	COX15	MT-TQ	CRB1
HP_BLEPHAROPHIMOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLEPHAROPHIMOSIS	RERE	SMAD4	MLXIPL	NTNG2	COLEC10	MOGS	ZMIZ1	SOX9	TRMT1	RIPK4	KANSL1	KDM4B	MCTP2	SMOC1	GTF2I	NCF1	PAX3	HSPG2	PSMD12	KCTD1	MED13	DOCK3	PIEZO2	FOXL2	DGCR6	LIMK1	MED27	EIF4H	NFIB	CLCN3	KAT6B	SLX4	ODC1	DCHS1	RBPJ	MYLPF	ABCC9	SLC2A10	CEP152	HDAC4	MYCN	BRPF1	ACTL6B	LMNA	TNRC6B	SALL4	EMC10	CRKL	HUWE1	COLEC11	DPYSL5	THOC6	FOXG1	TANC2	ORC1	PTPN23	TRIP12	DDX6	MED12	BCAS3	EP300	WDR35	TBX15	MADD	MAPK8IP3	KCNMA1	PALS1	BCL7B	BRCA1	ERCC6	FBXW11	WDFY3	ACTL6A	BPTF	TCF20	TXNL4A	GJA1	TBX1	GPKOW	NSUN2	DACT1	MAPK1	BCORL1	RLIM	MUSK	METTL27	TBL2	ERF	CCDC32	FAT4	TBL1XR1	MASP1	MAFB	MYT1L	CHN1	ESS2	HS2ST1	ANKRD17	MYH3	RTL1	DNMT3A	SRCAP	ANK1	SATB1	SMARCA2	ELN	DDR2	TMEM270	SLC12A2	RFC2	PHF6	GATAD2B	ZMPSTE24	HTT	GPC6	UBR7	KMT2E	LIG4	UBE3B	UGDH	CREBBP	FKBP6	TUBB	STX1A	GRIA4	SCARF2	MECP2	RAB18	HPDL	FANCD2	ATR	STAC3	SLC6A17	BAZ1B	MEG3	FOXP1	DGCR2	BUD23	KRAS	ATP6V1A	LMBRD2	CUL4B	DNAJC30	TCF7L2	PUS7	TLK2	BCR	GTF2IRD2	SVBP	SYNCRIP	RHOA	VPS37D	RBMX	STRA6	AGO2	SMO	SEPTIN9	HHAT	TP63	RNF2	WASF1	ZFHX4	SALL1	NTNG1	SPTBN1	SETD5	CNOT3	DLK1	MAPRE2	ERCC1	COL25A1	PYCR1	ALG14	DGCR8	KAT8	CLIP2	CEP57	SETD1A	KMT2A	TRAPPC4	GTF2IRD1	RECQL4	BCOR	JARID2	KCNJ2
HP_UPSLANTED_PALPEBRAL_FISSURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPSLANTED_PALPEBRAL_FISSURE	RERE	COMT	ALX4	RAD21	KDM4B	CLTC	RTTN	PGAP3	NDN	RAD51	RIPK4	XRCC4	KANSL1	SNRPN	ASPM	DONSON	CDC42	MCTP2	HBB	FIG4	TBCD	FANCC	PEX3	LMNB1	ROR2	C2CD3	MAPK8IP3	RAB11B	MEGF8	TRIP12	PYCR2	HDAC4	CNOT2	TOR1A	AHDC1	PIGW	TFAP2A	FANCF	CTU2	VAC14	ZMIZ1	ERCC4	TBX1	TTC26	PUF60	CEP63	ATAD3A	HSD17B4	FANCD2	CEP135	CACNA1G	PEX7	CCDC32	ZNF148	DLX4	EBF3	KNL1	MYCN	NSDHL	STIL	PIGL	ARVCF	CERT1	CDK6	UFD1	HUWE1	FANCL	TBX6	DVL3	THOC6	DDB1	PIGT	CHD4	EHMT1	BCL11B	NONO	TBCK	SMC1A	FZD2	HIRA	METTL5	PALB2	EP300	WDR35	HNRNPU	MAD2L2	PHF8	MED13L	FANCA	PIGV	COG1	PEX6	COPB1	FANCG	MECP2	OCRL	PEX19	BRCA1	SPTBN1	CHAMP1	NBN	TCF4	COPB2	ADAT3	MKRN3	POLR3A	CD96	EBP	SETD5	HERC1	PEX12	BPTF	UQCC2	POLA1	ATRX	AUTS2	TELO2	TRAPPC14	WDR62	SMS	GNB2	JAG1	KIF14	NARS1	MEIS2	MEF2C	PIGN	NXN	GATA1	SEC24C	NPAP1	PTCH1	IFT57	PPP1R12A	FANCB	TMCO1	PWAR1	DVL1	IL1RAPL1	PQBP1	CDK13	FANCI	PEX16	EXOC2	MAF	ANKRD17	FANCM	PEX1	SPEN	DYNC1I2	DHCR7	GAD1	HHAT	ANK1	EFTUD2	PEX11B	DYRK1A	DPYD	TRRAP	ASXL1	AP1S1	CENPJ	BRIP1	CIT	LIG4	PEX10	PEX13	QRICH1	RDH11	MCPH1	SIM1	PEX5	STEEP1	UBE3B	BUB1B	FGFR2	SLX4	CNOT3	KDM5C	PEX26	CREBBP	BICRA	PIGB	TUBB	NDUFS4	CCDC22	KIAA1109	PGAP2	RAI1	HS2ST1	AP3B1	MAP3K7	USP9X	MAGEL2	MFSD2A	UBE2A	PMM2	RAD51C	FANCE	ARID1B	NR2F1	GATA4	SIN3A	MINPP1	TAF13	ADARB1	JMJD1C	PHIP	TLK2	KAT8	PEX14	FLII	CEP152	TRIO	PIGO	HERC2	UBE2T	TUBGCP2	DEAF1	WNT5A	KIF11	PPP1CB	SASS6	PEX2	IGF1R	ZIC2	SEPTIN9	GJA1	PWRN1	ZNF292	ASXL3	EIF2AK3	SNORD115-1	ZC4H2	PHC1	PGAP1	ANKRD11	PIGA	B3GLCT	RFWD3	DLG3	MAPRE2	CDK5RAP2	PIGY	PAK3	BRCA2	PPP1R21	XRCC2	COG7	PURA	TOE1	RREB1	IQSEC2	PCNT	ANKLE2	GP1BB	ADAMTS3	AGO2	NCAPD3	SNORD116-1	WASF1	NFIX	SPECC1L	ADAMTSL2	EXOSC2	POLR3GL	GATAD2B	PARS2
HP_BAND_KERATOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BAND_KERATOPATHY	STAT4	OVOL2	IL2RA	ANKRD55	PTPN22	COL18A1	SLC4A4	PTPN2	IL2RB	JAG1	NOD2	CD247	GNAS
HP_SHALLOW_ORBITS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHALLOW_ORBITS	MAF	HERC1	SETBP1	HYMAI	MTX2	FLNB	ZMPSTE24	P4HB	PLOD3	KCNJ6	TWIST1	ADAMTS10	FGFR2	NFIX	LEMD2	HNRNPK	ALG9	SKI	PLAGL1	FGFR1	ESCO2	SHPK	LMNA	FBN1	MITF	SERPINH1	GNPTAB
HP_ABNORMALITY_OF_THE_OPTIC_NERVE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_OPTIC_NERVE	RERE	NDE1	IL12A-AS1	FAM111A	PROM1	FKTN	NTNG2	IL12A	KAT6A	LHX4	NALCN	B3GALNT2	RTTN	UQCRFS1	SMG8	OPA3	DPM2	CKAP2L	CDC42	NT5C2	MT-ND1	TCIRG1	OTX2	L2HGDH	PEX3	PLA2G6	CHSY1	TRAPPC11	RAB11B	ATXN1	MED27	CYP27A1	TGFB1	APOB	EXOSC5	NDUFA10	MTHFR	LDLRAP1	ERCC2	RBM10	GTPBP2	FH	TPI1	ERAP1	MT-ATP6	ISCA2	SMARCE1	B9D1	POLR3A	TWIST1	HMX1	SALL4	ERCC5	TBCD	PTEN	CASK	MT-CO1	NEFL	SPG7	C19orf12	TRAF7	LRAT	STT3B	EMC10	HESX1	DIAPH1	SLC7A14	NDUFAF3	PCLO	PCARE	STAT4	SLC6A9	RIMS2	SERAC1	PEX5	ACADS	RNU7-1	PLP1	ARV1	CLP1	PTPN23	PSAP	MBTPS2	TRIP12	TIMM50	GLRX5	MT-ND6	HGSNAT	SOX2	TXN2	ERCC1	NLRP3	SRD5A3	ALDH1A3	SBF2	CASR	CDH23	NDUFS8	CPLX1	CRPPA	CTNNB1	DNMT1	ATP1A2	SDHD	MT-TF	GALC	CLCN3	PEX6	PET100	IBA57	FANCB	KNSTRN	ASPA	CDON	YAP1	ABCC6	KIAA1549	FBXW11	WDFY3	ALMS1	MMACHC	GJA1	SMOC1	GJC2	NDUFB10	TCF20	TUBB4A	NIPBL	PEX12	UBA5	NDUFAF2	C1QTNF5	SOX5	SCYL2	SLC19A2	GRID2	PCSK9	PTCD3	GLB1	CRX	CSPP1	BCORL1	RLIM	WT1	MT-TL1	TIMMDC1	TMEM63A	TERT	MT-CO3	PDGFB	GABRB2	ARL6	BCOR	MTPAP	STAMBP	CNGA1	LCA5	DYRK1A	PEX11B	MYT1L	PEX16	TUB	GUCA1B	ZPR1	PIK3CA	SLC44A1	PTPN22	DNMT3A	ARNT2	IDS	CERKL	PDHX	ZIC1	RP1L1	PIK3CD	PLAA	NDUFV2	AUH	POMGNT1	USP45	ATP1A3	NDUFA13	NDUFA4	NDUFAF4	ATXN7	RAB3GAP1	VPS13B	TBX1	C2CD3	SLC1A2	APC	FLRT1	PEX13	KCNA2	NGLY1	AARS1	ATAD3A	ARSA	PRCD	KMT2E	TUBGCP6	SLC52A2	PAX6	UBE3B	KIF14	PEX26	NDUFS7	PIGB	RNF113A	SOST	RAB18	HPDL	AGBL5	ACTL6B	MT-TK	OTUD5	GLI2	MTRFR	ERCC6	POMK	MICU1	PRPS1	SH3BP2	ASB10	PDE6A	WFS1	NDUFA12	BRAT1	TCF7L2	PUS7	MFF	SNX10	PEX14	IGBP1	SYNCRIP	TSPAN12	ZNF513	KCNJ13	FOXRED1	TUBGCP2	KIF11	FAM161A	C4A	GABRA5	FDFT1	AGO2	UCHL1	ARL13B	DHDDS	ARL2BP	EMC1	TMEM107	COL18A1	ERCC8	FGF12	TMEM67	IL11RA	PIGU	POMT2	B4GAT1	CNKSR2	MKS1	PARS2	SPTBN1	NECAP1	FGFR2	CLTC	TFG	ECHS1	PRICKLE3	ZNF408	HNRNPK	RNF216	KAT8	GLA	SEMA4A	SETD1A	DNAJC30	ADA2	RPS6KA3	SLC19A3	COX15	MVK	HLA-DRB1	PRPF31	TUBA8	TNFRSF11A	PIGG	NDUFB3	VCAN	PRPF3	PEX1	TRIT1	INPP5E	KDM4B	KCTD7	IFT140	RFC1	SCO2	AIFM1	TCTN2	OSTM1	RP1	ACTG1	CC2D2A	PSMD12	ANTXR1	PRKAR1A	MT-TW	NUP62	GATA3	TMEM216	TBC1D24	PRKCZ	THG1L	CENPF	HIKESHI	WARS2	SDHA	MT-ND5	PCK1	TMEM237	GP1BA	GABRA2	TP53	FANCI	GPAA1	FKRP	SEMA3E	ABCA4	TNRC6B	IMPDH1	CBS	LARGE1	TULP1	CNNM4	UFD1	UBAC2	AFG3L2	TACO1	FSCN2	AP3B2	BRAF	EIF2B2	AIPL1	IFT88	VHL	XPA	MFN2	HIRA	CEP290	PLK4	KCNAB2	MAG	KLHL7	DHX38	WASHC5	SLC39A14	HCN1	CLCN7	PEX19	FDXR	SMARCB1	SELENOI	TMEM126A	ACTL6A	ROM1	MTFMT	VPS11	RPGRIP1L	RDH12	CACNA1F	TSC2	SLC25A46	GNA11	SMO	BLOC1S3	SUFU	PDPN	PRPF6	XYLT2	ACO2	CCR1	DDHD2	NDUFB8	TMEM126B	ELP1	ELOVL1	NDUFS1	ZNF592	ERCC4	NDUFA6	SEC24C	PAX2	XPC	GRIA4	SNRNP200	TMEM231	HS2ST1	ANKRD17	B9D2	TBC1D2B	ALG3	SRCAP	HSPG2	DPYD	POGZ	GGCX	SYNGAP1	NDUFS3	GDF6	SATB1	GMPPB	RSPO2	DDB2	SPEN	NDUFB11	KIAA0586	MAP2K1	CELF2	SNAP29	NTRK2	HSD17B10	COA8	RAB3GAP2	NMNAT1	MT-TS2	KLC2	MYO5A	NDUFS4	GRN	RBP3	CNOT3	PRPH2	SAG	CLN8	MPLKIP	MPDU1	CISD2	POU1F1	ALG13	BAP1	RHO	GABRG2	TCTN3	NEU1	MAN2B1	EPRS1	KCNC3	INPP5K	BEST1	MERTK	TXNDC15	PANK2	MT-TV	ARHGEF2	MT-ND4L	NDUFS2	CCDC22	SVBP	BTD	SEC23A	RTN4IP1	OPA1	SCYL1	NOD2	TRAPPC12	RP9	PRUNE1	MMUT	DENND5A	TTC8	PEX10	RPIA	PEX2	ERCC3	STX3	MT-ND4	NDUFA11	GEMIN4	NDUFAF8	WASF1	FGF13	TANGO2	SEC31A	ABHD12	CLRN1	WDR73	AAAS	IQCB1	MED12	SON	TYR	HLA-A	CRB1	NDUFAF5	CA2	EIF2B3	TOE1	RREB1	DDX11	FAS	MID2	NUBPL	DNM1L	DALRD3	CPAMD8	COMT	ZMIZ1	EPCAM	TRMT1	POLR3K	PDE6G	GBA	HK1	KANSL1	DPM1	MT-CYB	CCDC88A	FRMPD4	KIZ	MT-ND3	KIDINS220	NDUFV1	FXN	NEK2	ACTB	MRPS34	ARSL	TIMM8A	ZNHIT3	DOCK3	SCN3A	DAG1	ERF	WDR45	DOCK6	PCYT1A	TOR1A	NELFA	SZT2	HLA-B	IMPG1	LAMB1	MSTO1	LETM1	MFSD8	MT-TH	NDUFS6	DNAJC19	SURF1	USP8	NDUFAF1	ARX	NFIX	ATG7	SLC29A3	FA2H	DPYSL5	YWHAG	IFT172	REEP6	FDX2	TSFM	TUBGCP4	NR2F1	NEDD4L	AKT3	RECQL4	MAPK8IP3	HNRNPU	LDLR	KCNMA1	PPP2R1A	DARS2	CACNA1A	PTF1A	FGFR1	KCNB1	NDP	LYRM7	COL4A1	SYNJ1	CYP1B1	BPTF	SPATA7	TBC1D7	TASP1	MMP19	SLC45A2	POMGNT2	SALL2	MT-CO2	HARS1	ATN1	ATRX	PRDM16	CHD7	NAGA	NOTCH3	VPS53	PROKR2	POU3F4	BBS2	FZD4	STAG2	GRIN2D	CCDC32	ZEB2	AMPD2	GATA2	FCSK	ATP6V1B2	IKBKG	EPG5	CNGB1	EIF2B1	EIF2B4	AGXT	ASXL1	CA4	TNFRSF11B	CLN3	TLR4	SIL1	SLC12A2	AFF4	EEF1A2	COX7B	MICOS13	MYOC	IDH3B	WWOX	TMTC3	PNPLA6	POMT1	NDUFA9	UBR7	LRP5	ESPN	EIF2B5	PPT1	CLDN11	IMPG2	RGR	CDHR1	TRNT1	MEF2C	SCAPER	CTBP1	TBC1D20	TK2	OFD1	NBAS	EYS	TCTN1	PRPF8	KIF7	ARHGEF18	ABCG8	FGFR3	CYFIP2	MGP	IFNGR1	VPS41	SPOP	SLC13A5	PPP1CB	KIF1A	DNM1	COG6	PDE6B	RNF2	RPGRIP1	PDHA1	CFAP410	DGUOK	NTNG1	PIEZO2	ANKRD11	TMEM222	B3GLCT	ACOX1	NDUFA2	CFAP418	SCN8A	IL23R	MT-TQ	WDR11	SSBP1	GP1BB	GNAT1	SARDH	GATAD2B	MOGS	NDUFA1	PLEKHM1	RPE65	POLG	NDUFB9	ADAM22	LRP4	USH2A	TYRP1	ALG8	ITM2B	BOLA3	MED13	NR2E3	RP2	PISD	ATP6V1A	XYLT1	GNAQ	VPS33A	MECR	INTS8	RXYLT1	PUF60	PROP1	GDF3	IER3IP1	TSC1	NUS1	NF2	SIX6	UBE4B	CSF1R	NSD2	ARVCF	AHR	FOXA2	TWNK	TBCE	HUWE1	CDK19	MINPP1	DPAGT1	MPDZ	AKT1	ABCG5	AP1S2	TANC2	MT-ND2	BCAP31	IFT74	MCOLN1	GUCY2D	DDX6	MEFV	LHX3	DKC1	BCAS3	MADD	PALS1	ST3GAL5	TUBB3	POLR3B	CTC1	GPR161	MMP23B	CLCN2	SOX3	TMEM98	TNFSF11	P4HA2	PMPCB	CACNA1B	PCYT2	NAA10	NRL	IDH3A	MFRP	PORCN	NOTCH2NLC	CLCC1	ACER3	WNT3	TOPORS	MAFB	CHN1	ROBO1	EXOC2	MT-RNR1	DHCR7	B3GALT6	NDUFAF6	HHAT	MAP2K2	EXOC8	IL10	HTT	RD3	SUMF1	PPP3CA	RNF135	MAK	LIPT1	OCA2	TRAK1	RAB23	ADAR	RPGR	ARL3	KRAS	POLG2	CASZ1	PRPF4	LMBRD2	MT-TN	P4HTM	JMJD1C	MT-TP	DARS1	SLC25A19	FLVCR1	GMPPA	RHOA	GFM2	YME1L1	LUZP1	MC1R	SPINT2	SH3TC2	MMP2	KLRC4	GABRD	SKI	MMP14	ATIC	PPP1R21	RLBP1	WDR4	NDUFC2	TRAPPC4	MTO1	PDSS1	NARS2	JARID2	CYP7B1	AHI1	SLC38A8
HP_OPTIC_DISC_COLOBOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPTIC_DISC_COLOBOMA	PAX6	SALL2	SMO	TMEM216	RPGRIP1L	IGBP1	INPP5E	EPCAM	HHAT	NAA10	SALL4	C2CD3	ACTB	DDX11	SPINT2	PAX2	BCOR	TMEM67	ACTG1	CC2D2A	NIPBL
HP_COLOBOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COLOBOMA	RERE	MAF	PIGG	GAS1	SUFU	FKTN	TMEM67	TMEM237	ZEB2	EPCAM	CEP120	VPS35L	SHH	B3GALNT2	FGFR1	SOX2	MKS1	IGBP1	RB1	LCA5	KRAS	COX7B	INPP5E	HRAS	GDF6	OTX2	BCOR	ACTB	PRPS1	FBXW11	KCTD1	CTBP1	CEP41	C2CD3	TRAPPC11	DAG1	CRYBB2	ERF	C12orf57	ATP6V1A	LRAT	ACTG1	GNAQ	CC2D2A	NELFA	TFAP2A	POLR1C	CEP290	RXYLT1	AHI1	SATB2	TBX22	ZMIZ1	PUF60	GDF3	LRP2	TMEM216	LETM1	PIBF1	CENPF	CPLANE1	FIBP	PRMT7	NODAL	CRYAA	SIX6	NRAS	HMX1	SALL4	TCTN1	FKRP	NSD2	SEMA3E	CASK	CHD7	RPE65	LARGE1	CLDN19	ESCO2	CREBBP	NOTCH2	ALX3	AAAS	MITF	PTCH2	MPDZ	POMT1	MAB21L2	PNPLA6	MBTPS2	PTCH1	PACS1	SRD5A3	ALDH1A3	CPLX1	POLR1D	MED13L	WASHC5	TBC1D20	KIAA0586	SPTBN1	YAP1	COL4A1	GMPPB	WAC	TBC1D23	MMACHC	SIX3	NIPBL	POMGNT2	SALL2	CDON	SMO	B9D1	NPHP1	CRYGC	CRYBB1	HMGB3	POGZ	DACT1	NAA10	RAB18	PORCN	FOXE3	POMT2	PAX2	GJA8	TRIM37	WNT3	DISP1	AKT1	MAFB	CHN1	ALG3	ADNP	DPYD	DHCR7	ASXL1	FGFRL1	FGF8	KDM6A	HHAT	HCCS	POMGNT1	ANK1	DYRK1A	RSPO2	RAB3GAP1	DHX38	SMCHD1	ZNF423	PAX6	SPECC1L	RBP4	RAB3GAP2	NMNAT1	TDGF1	KATNIP	CBY1	TENM3	PRR12	ZIC2	TMEM138	CEP104	BMP4	PIGL	TGIF1	FLNA	GZF1	NDUFB11	SPATA7	HNRNPK	VPS13B	POMK	POLR1B	FOXH1	WDR37	TCOF1	SIN3A	KIF7	FLI1	RPGRIP1L	CCDC22	ATOH7	GMPPA	HYLS1	ARMC9	CRPPA	EP300	KMT2D	SALL1	FGF3	SPINT2	MED12L	B4GAT1	ALG2	ARL3	CRYGD	CSPP1	INTS1	PTEN	MMP2	TBR1	ARL13B	TMEM231	ROR1	GLI2	B3GLCT	FGFR2	MMP14	DLL1	PDE6D	DDX11	KIFBP	PCYT1A	CAPN15	VSX2	PQBP1	CRYBA4	ABCB6	TCTN2	NOTCH3
HP_PROGRESSIVE_EXTERNAL_OPHTHALMOPLEGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_EXTERNAL_OPHTHALMOPLEGIA	POLG	MT-ND6	MT-TT	GIPC1	MT-ATP8	OPA1	RNASEH1	DNA2	MGME1	APTX	TWNK	MT-TF	ATXN3	TYMP	RRM2B	MT-TS2	POLG2	NOTCH2NLC	MT-TW	DGUOK	MT-CO3	VARS2	SLC25A4	C1QBP	TOP3A	TK2	MT-TL2	MT-TN	MT-CO2	MT-TL1	MT-TH	MT-TK	ACADS	MT-CO1	MT-ND1	MT-ND4	MT-ND5	MT-TQ
HP_ABNORMAL_SCLERA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SCLERA_MORPHOLOGY	COL5A1	PLOD1	IDS	EXOSC1	TGFB3	GDF11	MBTPS2	MVK	B3GALT6	KDM6A	XYLT1	NLRP3	ESCO2	NFIX	VPS4A	INPPL1	ENPP1	TENT5A	ABCC6	CHSY1	DNASE1L3	ROR2	CTSK	KDM1A	HGD	PAX1	RPS23	FKBP10	UNC45A	PSMB8	COL1A1	B3GAT3	BMP1	WNT1	KMT2D	KIFBP	COL1A2	CANT1	DSE	PRMT7	DVL3	BCL11A	ZNF469	OCA2	HADHA	IGF2	COL3A1	EXOC6B	LRP5	SLC39A13	SON	SLC29A3	CHST14	TGFBR2	PTEN	ADAMTS2	IMPG2	ALPL	CLCNKB	KRAS	SEC24D	RMRP	P4HB	TMEM38B	DPAGT1	GHR	CRTAP	PIGT	CHST3	CA2	PPIB	FZD2	UROD	B4GALT7	PUS3	FGFR1	PPP1R15B	WNT5A	PGM1	CYB5R3	COG4	MC1R	IKBKG	TRMT10A	TGFBR1	FBN1	MED27	SLC26A2	SALL1	POLR3A	IPO8	ARL2	PRSS56	UROS	MAP3K7	MESD	PYCR1	GATA1	TELO2	IFITM5	GNB2	DACT1	TRMT5	CREB3L1	PRDM5	NXN	MFRP	COL12A1	C1R	PPP1R21	PRKG2	CYB5A	BEST1	AKT1	WASF1	DVL1	SERPINH1
HP_BLUE_SCLERAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLUE_SCLERAE	COL5A1	PLOD1	EXOSC1	TGFB3	GDF11	MBTPS2	MVK	B3GALT6	KDM6A	XYLT1	ESCO2	NFIX	INPPL1	ENPP1	TENT5A	ABCC6	CHSY1	ROR2	CTSK	KDM1A	PAX1	RPS23	FKBP10	UNC45A	COL1A1	B3GAT3	BMP1	WNT1	KMT2D	KIFBP	COL1A2	CANT1	DSE	PRMT7	DVL3	BCL11A	ZNF469	IGF2	COL3A1	EXOC6B	LRP5	SLC39A13	SON	HGD	CHST14	TGFBR2	ADAMTS2	ALPL	SEC24D	RMRP	P4HB	TMEM38B	GHR	CRTAP	CHST3	CA2	PPIB	FZD2	B4GALT7	PUS3	PPP1R15B	WNT5A	PGM1	CYB5R3	COG4	IKBKG	TRMT10A	TGFBR1	FBN1	MED27	SLC26A2	POLR3A	IPO8	MAP3K7	MESD	PYCR1	TELO2	IFITM5	GNB2	TRMT5	CREB3L1	PRDM5	NXN	COL12A1	C1R	PPP1R21	PRKG2	CYB5A	WASF1	DVL1	SERPINH1
HP_ABNORMAL_ANTERIOR_CHAMBER_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ANTERIOR_CHAMBER_MORPHOLOGY	PITX2	MIR204	ATOH7	COLEC10	PAX6	FZD4	LRP5	FGFR1	PIGO	ADAMTS10	LCA5	FOXC1	CD247	ZEB1	STAT4	PIGV	NDP	CHST14	MASP1	GRHL2	MYOC	PIK3R1	PTPN2	LRAT	FBN1	CYP1B1	IL2RB	COL8A2	PIGW	PGAP3	OVOL2	IL2RA	VSX1	LOXL1	B3GLCT	ANKRD55	COL18A1	RAB18	COLEC11	SRCAP	PGAP2	JAG1	HMX1	PIGY	CHRDL1	SPATA7	TSPAN12	FOXE3	PIGL	RPE65	LTBP2	PTPN22	ELMO2	MITF
HP_SHALLOW_ANTERIOR_CHAMBER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHALLOW_ANTERIOR_CHAMBER	PIGV	TSPAN12	PIGL	NDP	ATOH7	LTBP2	RAB18	FZD4	FBN1	PIGO	ADAMTS10	PGAP2	PIGW	PIGY	PGAP3
HP_OPHTHALMOPARESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPHTHALMOPARESIS	PROM1	MYO9A	AGRN	BIN1	OPA1	GIPC1	STUB1	NDUFA13	SALL4	GBA	DNM1L	KIZ	HRAS	MT-ND3	TCIRG1	RYR1	MT-ND5	NEK2	MYF5	CHRNE	ATXN3	ATXN1	WFS1	BAP1	NDUFA10	SUCLA2	KIF21A	SBF1	IMPG1	SLC25A4	C1QBP	TOP3A	SLC25A1	RNASEH1	NDUFS2	MT-TL2	MT-TN	KRAS	TWNK	MT-TH	MT-TK	SMARCE1	MTRFR	MYF6	FOXRED1	SLC5A7	SURF1	MT-CO1	COLQ	TRAF7	POMGNT1	MT-ND1	LRAT	ATG7	RRM2B	POLG	FA2H	SLC7A14	PCARE	REEP6	ITGA7	AKT3	HGSNAT	MT-ATP8	ACTA1	SLC18A3	APTX	ABCA4	MT-TF	NDUFS4	MTMR14	KCNJ18	MAPT	PET100	LYRM7	CHRNA1	MT-ND6	DHX37	MYH7	SPATA7	LMOD3	CHRNB1	NDUFAF2	LAMA2	COL3A1	MT-CO2	NAXD	ATN1	POLG2	CRX	DOK7	MAP3K20	MT-TL1	RAPSN	TERT	PDGFB	ATXN7	BBS2	MT-TW	ARL6	NDUFAF3	MFF	GUCA1B	PIK3CA	NDUFS8	GRIN1	CNGB1	PTPN22	MT-TT	CERKL	RP1L1	DNM2	PLEC	NDUFV2	PABPN1	CISD2	ZNF408	MUSK	NDUFA4	SPEG	CA4	KLHL41	MT-TC	PDE6G	NDUFA9	TPM2	IMPG2	RGR	AGBL5	CDHR1	DGUOK	SELENON	SCAPER	CDH23	ATP5MK	COL13A1	AFG3L2	GFPT1	TK2	NDUFA12	OFD1	REV3L	PRCD	EYS	MT-CYB	PRPF8	NEB	ARHGEF18	PMPCA	DNA2	TUB	DHDDS	ARL2BP	STIM1	HACD1	IFT172	PDE6B	AIP	NDUFS7	ZFHX4	PDHA1	MT-TE	ANGPTL6	PIEZO2	MTTP	KLHL40	NDUFA2	TUBB3	ECHS1	COL25A1	SDHAF1	PLXND1	CFAP418	MICU1	SDHD	SEMA4A	MT-ND4	ADA2	SLC19A3	COX15	PRPF31	GABRA3	TSPYL1	USH2A	PRPF3	FRG1	HLA-B	MGME1	IFT140	MT-TV	SCO2	NR2E3	RP2	SDHA	RP1	TYMP	PHOX2A	CACNA1S	LRP12	NDUFAF5	LIG3	IMPDH1	TRPV4	SCN4A	NF2	NRAS	COX16	THSD1	TPM3	UGT1A1	AHR	SNAP25	SMO	HPDL	NDUFV1	AKT1	CHRND	TACO1	ATXN2	IFT88	IDH3B	SYT2	FAM161A	LAMB2	FDXR	PDE6A	CHAT	KLHL7	DHX38	SMARCB1	ROM1	MYMK	NOTCH2NLC	MT-CO3	RPE65	RDH12	SUFU	P4HA2	PRPF6	NDUFB8	MYL2	NRL	NDUFS1	IDH3A	ALDH4A1	TOPORS	MAFB	CHN1	SNRNP200	ADPRS	NDUFAF6	ACTN2	TGFBR3	KCND3	NDUFS3	VAMP1	ENG	SDHB	LRP4	MT-TS2	RBP3	PRPH2	SAG	MAK	KIAA1549	LIPT1	MTFMT	ACADS	RPGR	ARL3	RHO	BEST1	CNGA1	MERTK	SYNE1	MTM1	SLC9A6	MT-ATP6	HLA-DRB1	ZNF513	MYH2	MT-ND2	RP9	TTN	FSCN2	TTC8	NUTM2B-AS1	ROBO3	CLRN1	VARS2	MEN1	TULP1	MCM3AP	EARS2	PRPF4	MT-TQ	CRB1	AK9	RLBP1	SLC52A3	PCYT1A	AHI1
HP_ABNORMALITY_OF_THE_FRONTAL_HAIRLINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_FRONTAL_HAIRLINE	RERE	PIGG	GDF11	HDAC8	ATP6V1B2	ARID2	GATA1	XRCC4	NOVA2	DPM2	ABCC9	DOCK7	TBC1D24	HSPG2	SPECC1L	DOCK6	SOS1	FGFR2	NELFA	POLR1C	RPL18	RPS17	RPS7	TCF12	FGD1	MAB21L1	LRP2	INSR	RPS28	LETM1	TECPR2	UGP2	TWIST1	RPL35	DLX4	KCNH1	SMARCA4	NSD2	PACS1	ARX	RPL5	PPARG	NOTCH2	FRMD4A	ALX3	SH2B1	VPS33A	SLC12A6	TAF6	FRAS1	RPS27	THOC6	NSD1	ZNF699	SMC3	ADNP	MID1	CAVIN1	SLC25A24	LRPPRC	SMC1A	RALGAPA1	SOX4	TBL1XR1	SMARCB1	EFNB1	SETD2	PPP1R15B	SMARCC2	CPLX1	POLR1D	RPS20	AGPAT2	SLC35C1	NANS	ARID1A	CLCN3	RPL27	BRCA1	NBN	PIK3C2A	KREMEN1	RPL35A	RPS10	RPS26	NEPRO	SETD5	SOX11	MAP3K7	SMARCE1	NSUN2	ARID1B	RPS15A	GNB2	HYOU1	MEIS2	STAG2	KCNN3	SLC9A7	CREBBP	TMCO1	ANKRD17	APC2	SPEN	RPL15	CPOX	ZIC1	ALX1	FGFR3	RAD21	CCNK	NIPBL	ASXL1	RAB3GAP2	MAN2B1	ANKRD11	LIG4	AIFM1	SYT1	DPF2	KDM1A	CAV1	BICRA	BRD4	CDH1	SMPD4	RAB18	SMARCD1	TWIST2	RPL11	VPS13B	HS2ST1	POLR1B	CTBP1	TBC1D20	ERMARD	RPL26	TCOF1	SIN3A	ADARB1	SPATA5L1	RPS24	FOS	MED13L	SMARCA2	SPOP	KCNJ8	PPP1CB	ADA2	RPS19	EMC1	TRMT10A	COG5	WNT4	PEPD	ZC4H2	PEX6	RPL31	EP300	PGAP1	LMX1B	BSCL2	SATB1	RPS29	IFIH1	PEX1	TSR2	COG7	TBX2	IGF1	SVBP	CWC27	PIGK
HP_ABNORMALITY_OF_THE_PHARYNX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PHARYNX	CIITA	DKC1	STK11	COMT	WAS	ICOS	SHH	XPNPEP2	GFI1	ARID2	GIPC1	CD19	JAK3	LEPR	RFXANK	HLA-B	DNAAF5	ASAH1	ODAD2	HSPG2	PNP	ANKH	TNFRSF13B	DCLRE1C	TAP1	COL5A2	GNPTAB	PSMB8	ELANE	MST1R	TBX1	IGKC	ALG12	AICDA	USB1	HYDIN	TNFRSF13C	CXCR4	NFKB2	RSPRY1	SCNN1G	SMARCA4	XIAP	CTC1	PIK3CD	ARVCF	DNAI1	TAPBP	UNC119	TNFSF12	TP53	IL17RA	FOXN1	UFD1	SALL4	IRF2BP2	HPS6	FOXJ1	F12	SOX9	DNAAF1	SH3KBP1	SOX4	MDM4	NAGLU	DOCK8	HIRA	CFI	SERPING1	SMARCB1	NFKB1	SMARCC2	EP300	NPM1	LEP	STAT3	RSPH1	ARID1A	IL7R	SPAG1	SGSH	SRP54	ALMS1	NOTCH2NLC	GJA1	PRPS1	DNAAF6	RTEL1	GUSB	IL6R	CR2	DNAH5	IGHM	SOX11	P4HA2	HGSNAT	MGAT2	STAT1	SMARCE1	ARID1B	PRKAR1A	HYOU1	GLB1	GAS2L2	ZMYND10	SEC24C	KATNIP	CFAP298	CREBBP	NHP2	RPGR	PARN	CD79A	DYM	LRBA	TCIRG1	CARMIL2	NCF4	RAG1	PTPN22	COL5A1	IDS	ADNP	GNS	PABPN1	PLG	GALNS	DNAAF4	RAG2	RFXAP	STXBP2	GAS8	ACP5	MAGT1	RFX5	DPF2	CTLA4	OFD1	CD79B	TNFRSF1A	MGP	COG4	KDM5C	DNAI2	SCNN1A	UNG	MS4A1	SMARCD1	EGFR	FOXP1	RAC2	IGHG2	USP9X	NEK10	RNF168	CD81	TERC	ATM	PLP1	GLI3	SH2D1A	JMJD1C	RSPH4A	IL2RG	HLA-DRB1	KRT5	DNAAF2	NOP10	BLM	RAI1	NBN	NLRP12	PRKCD	TCOF1	DNAAF11	MATR3	IL21R	MED12	FGFR1	FCHO1	STX3	NME8	ODAD1	SMARCA2	STK36	TP63	MID1	TBC1D24	SLC29A3	FCGR3A	SCNN1B	ARSB	ZAP70	SETBP1	MYSM1	TINF2	WRAP53	ADA	HLA-DPB1	TERT	RREB1	TAP2	IVNS1ABP	GP1BB	IKBKB	ADA2	CCDC65	MCIDAS	CD4	DNAJB13	FGFR2
HP_HYPOTELORISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOTELORISM	RERE	NDE1	GAS1	PTCH1	PROKR2	RAD21	SHH	MLXIPL	RTTN	IFT122	MSX2	DPM2	XRCC4	SNRPN	CNOT1	SIX3	GPT2	KCTD1	TGIF1	STAG2	ALDH18A1	LAGE3	FGFR2	ERCC3	MPLKIP	PAH	MSTO1	NODAL	WDR4	CCDC32	FGFR1	TPRKB	TWIST1	CDON	KANSL1	FOXH1	DLL1	FGF8	SLC35A1	ZIC2	ARCN1	GTF2E2	GLI2	HUWE1	SHPK	DDB1	NUP107	ZNF699	TDGF1	AP3D1	SMC1A	OSGEP	PPP1R15B	FREM1	STIL	STIM1	CLCN3	NDP	EVC	ACBD5	NIN	DYRK1A	GTF2H5	PDE4D	TARS1	GSC	SUFU	GNB2	WDR35	ARID1B	WDR19	DISP1	MKS1	RAB3GAP1	ERCC2	RAB3GAP2	IFT43	QARS1	EPG5	COX14	NSUN2	TRRAP	USP9X	RECQL4	FARSB	SRC	TP53RK	CNOT3	NUP133	BICRA	ELN	SMPD4	FANCD2	CDK19	KIAA1109	FGFR3	OPHN1	NTNG2	RNF113A	EVC2	LIG4	ATP6AP1	KAT8	HNRNPH2	NF1	AASS	TRMT10A	SEPTIN9	GJA1	IFT52	GATA2	GON7	TRAPPC9	NARS1	PYCR1	RLIM	DPYSL5	WDR73	CEP57
HP_CENTRAL_SCOTOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_SCOTOMA	OPA1	CFAP410	MT-ND6	GNAT2	MT-CO3	RTN4IP1	ATF6	MT-CYB	CNGB3	RBP3	CYP4V2	DNM1L	NDUFS2	ITM2B	MT-CO1	RAB28	PROM1	TIMM8A	MYOC	FDXR	POC1B	TMEM126A	DNAJC30	CNGA3	CYP1B1	MT-ND5	CACNA1F	PRPH2	ELOVL4	MFSD8	MT-ATP6	CRX	MT-ND2	MT-ND1	OPA3	RLBP1	ABCA4	RHO	MTRFR	IMPG2	MT-ND4L	RPGR	RDH5	MT-ND4	PDE6H	PDE6C	MFN2
HP_SUPRANUCLEAR_GAZE_PALSY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPRANUCLEAR_GAZE_PALSY	VAMP1	TBK1	NOP56	ATP13A2	VPS13A	HLA-DQB1	ATXN1	SQSTM1	SPG11	ALS2	HOXA1	SPTLC1	DCC	SIGMAR1	MAPT	PLA2G6	AASS	PSAP	GBA	POLG	TARDBP	ELOVL4	NPC1	CHCHD10	C9orf72	PRNP	SYNJ1	FUS	ROBO3	CCDC88C	POLR3A	DLAT	FA2H	DCTN1	ACOX2	SPG7	ADD3	KCNC3	TANGO2	NPC2	TWNK	ALDH4A1	FTL	VCP	PIGT
HP_ABNORMALITY_OF_THE_PERIORBITAL_REGION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PERIORBITAL_REGION	NPHS1	MLXIPL	CITED2	TBC1D8B	XPNPEP2	CLCN4	BRAF	ESCO2	ABCC9	DOCK7	AIP	NKX2-5	GTF2I	SUMF1	ACTB	CTLA4	NKX2-6	PEX3	NCF1	ZNF41	KCTD1	ZNHIT3	GDI1	LIMK1	FTSJ1	YY1	RPS23	EIF4H	PEX19	ACTG1	VPS33A	GSN	GNPTAB	ANTXR1	GNE	NUP85	RBM10	WT1	GATA4	PAX2	SRCAP	NUP107	FGF10	LZTR1	KNSTRN	FBXO31	RIN2	KDR	ARX	GRIA3	MYO1E	PPARG	SLC9A7	LRP2	CDH11	COL4A3	FRMD4A	KAT6A	EDEM3	CCBE1	COL5A2	CNKSR2	GHR	FOXG1	MED13	CAVIN1	SLC25A24	MAB21L2	SOX18	EDA	JAG1	FHL1	FREM1	WDR4	DMD	PHF8	AGPAT2	SHANK3	ARHGEF6	BCL7B	PEX6	MYOD1	TRAPPC9	IQSEC2	HLA-DPA1	SPTBN1	ACSL4	SP7	PSPH	FGFR2	PTPRO	NUP37	PDGFRB	IGSF3	PSMB4	PITX2	SYP	KIF15	TASP1	EDARADD	FLNA	NRAS	PEX12	MAP3K7	ZNF711	FGFR1	FGFR3	NSUN2	TSPAN7	FRG1	DNMT3B	ZSWIM6	PLCE1	CRB2	LAS1L	MED12	ANLN	METTL27	TBL2	SMCHD1	TBX1	PSMC3	SUZ12	FLT4	RPS6KA3	USP9X	LTBP4	MASP1	PRMT7	PEX16	CAMTA1	HBA1	PTPN22	MYD88	NUP160	EXOC2	GAPVD1	ANKRD17	PEX1	IDS	SPEN	IL1RAPL1	CHD8	PIK3CD	KMT2E	CD2AP	PEX11B	ELN	MAP2K1	MAP2K2	TMEM270	PPP2CA	AP1G1	NUP133	RFC2	PHF6	EMP2	PEX10	PEX13	PIEZO1	MAGI2	NUP93	LIG4	CAV1	DLG3	PEX5	TNFRSF1A	CYP26C1	PRR12	COL1A1	PEX26	FKBP6	PSMB9	MID2	TUBB	STX1A	POMP	HBA2	TWIST2	TAF1	BAZ1B	OPHN1	RAB23	NEU1	DUX4	KRAS	HS2ST1	ADAMTS2	FRMPD4	KPTN	GATA5	TGFBI	BUD23	ALG13	CHD1	RAB39B	STEEP1	DNAJC30	SNX14	HRAS	ZFPM2	GPR101	NPHS2	COQ8B	HDAC8	GTF2IRD2	PEX14	GDF1	TCF12	SEC23A	FOS	PCGF2	SPOP	AGTR2	VPS37D	ERCC4	RBMX	KCNJ8	KIF1A	SOX11	PRTN3	PEX2	APOL1	MED12L	PIK3R1	ASXL3	UPF3B	SLC35C1	NUP205	TWIST1	KIF11	SLC29A3	HLA-DPB1	COL5A1	ACTN4	EDAR	GJA5	BSCL2	TTC37	PTCHD1	GATA6	UBE2A	ARHGAP24	ZIC1	YARS1	PTH1R	USP27X	PAK3	ARHGDIA	TRPC6	PPP1R21	ANKFY1	MDH1	CLIP2	ZNF81	INF2	MECP2	GTF2IRD1	HCFC1	GATAD2B
HP_MACULAR_DEGENERATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_DEGENERATION	LZTFL1	ATXN7	APOE	DHX38	CFI	ASAH1	MERTK	CLN3	RLBP1	CP	RPGR	ABCC6	PRPF31	GRK1	NMNAT1	CFHR1	RP1L1	XYLT1	RAX2	GUCY2D	EFEMP1	PRCD	ERCC3	RP9	MPLKIP	IFT140	CDH3	ELOVL4	PPT1	BEST1	CST3	FBLN5	PRPH2	COL18A1	ARL2BP	RHO	RNF113A	HK1	PROM1	GTF2E2	CEP78	FBN2	ZFYVE26	WDR19	SH3BP2	TRAF3IP1	ANO10	DRAM2	SLC6A6	ABCA4	ALDH3A2	MAPKAPK3	RPGRIP1	PLK4	ATF6	GUCA1A	NR2E3	RIMS1	CNGB1	SPG11	PAX2	CNGB3	CFH	SCAPER	TTC8	C1QTNF5	XYLT2	GTF2H5	TARS1	CFHR3	TNFRSF11B	CFAP418	YARS1	HMCN1	HLA-A	GUCA1B	NRL	FBLN1	SIX6	SEMA4A	ERCC2	RDH5	KCNV2	SAG	PCYT1A	GBA	RS1	AIPL1	PITPNM3
HP_OPTIC_NERVE_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPTIC_NERVE_HYPOPLASIA	NDE1	DNMT3A	ARNT2	FKTN	LHX4	ZIC1	RTTN	SOX2	POMGNT1	RSPO2	OTX2	MAP2K2	ARSL	POMT1	ATAD3A	PAX6	ERF	PROP1	PUF60	KIF14	RNF135	CENPF	POMT2	RNF113A	CASK	SIX6	FANCI	POU1F1	OTUD5	GLI2	FKRP	MEF2C	HNRNPK	SON	NEFL	POMK	FOXA2	B3GALNT2	HESX1	NR2F1	MBTPS2	IFT74	PTPN23	LHX3	ALDH1A3	SPOP	CRPPA	PPP1CB	PPP2R1A	FDFT1	PTF1A	FGFR1	PIK3CD	KNSTRN	CDON	TUBB3	GMPPB	GPR161	SOX3	PROKR2	ANKRD11	DDHD2	MED12	SCN8A	WT1	WDR11	STAG2	WNT3	GRIA4	ROBO1	TUBA8	ZPR1	GATAD2B	LARGE1
HP_ABNORMAL_CHOROID_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CHOROID_MORPHOLOGY	NDE1	DCT	SAG	TMEM237	VCAN	ZEB2	VPS35L	B3GALNT2	LCA5	ZNF408	INPP5E	TMEM216	APOE	ABCC6	PEX3	KRIT1	DAG1	C12orf57	TCTN2	XYLT1	LRAT	GNAQ	ALDH1A3	CC2D2A	SIX6	RXYLT1	HCCS	TBX22	EPHA2	ELOVL4	RP2	BEST1	B9D1	CSPP1	FBLN5	HMX1	PRPH2	SALL4	SEMA3E	CASK	RPE65	LARGE1	CLDN19	VPS33A	SOX2	FSCN2	RNU7-1	RAX	PNPLA6	POMT1	MAPKAPK3	TSC1	FKTN	TUBGCP4	CEP290	CHM	GUCA1A	GUCY2D	WASHC5	PROM1	NDP	PEX6	GRHL2	OCRL	PEX19	CNGB3	SPTBN1	YAP1	COL4A1	WAC	CLCN2	RPGRIP1L	NF1	IMPG1	POMGNT2	PEX12	C1QTNF5	XYLT2	CRX	CFHR3	CHD7	RERE	DACT1	NAA10	RPGRIP1	JAG1	OTX2	CTNNB1	ABCA4	WT1	FBLN1	PORCN	POU3F4	CREBBP	BCOR	OAT	FZD4	AKT1	MAFB	CHN1	PEX16	TMEM231	B9D2	PEX1	AGXT	MT-TK	PEX11B	ZEB1	CFI	VPS13B	ZNF423	CRB1	MICOS13	PEX10	CFHR1	PEX13	EYS	DPP6	COL8A2	EFEMP1	LRP5	TUBGCP6	MFRP	PAX6	PEX5	FKRP	PEX26	SIM1	VSX1	TMEM67	SLC25A15	ADAMTS18	CYP4V2	GZF1	HADHA	TSC2	RBP4	SPATA7	TCTN3	POMGNT1	PDCD10	FBN2	CLCNKB	TXNDC15	POMK	TCTN1	ENPP1	UBE3B	PEX14	CCDC22	TSPAN12	ROM1	NOD2	KIF11	CRPPA	TEAD1	SALL1	PEX2	MT-TL1	TMEM107	GDF3	PAX2	IKBKG	HHAT	B4GAT1	TMEM98	PTEN	MT-TE	SHH	PRSS56	POMT2	MKS1	IMPG2	TMEM138	EP300	COX7B	TIMP3	HMCN1	HLA-A	RLBP1	CFH	CCM2	ACVRL1	OVOL2	NRL	NDUFB11	ACTB	RNF216	MAGEL2	BMP4	HLA-DRB1	DHX16
HP_IRIS_COLOBOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRIS_COLOBOMA	MAF	PIGG	GAS1	SUFU	TMEM237	ZEB2	CEP120	B3GALNT2	FGFR1	SOX2	MKS1	IGBP1	RB1	KRAS	COX7B	BCOR	ACTB	KCTD1	CTBP1	CEP41	TRAPPC11	DAG1	CRYBB2	ERF	C12orf57	ATP6V1A	TMEM67	ACTG1	GNAQ	CC2D2A	NELFA	TFAP2A	POLR1C	RXYLT1	AHI1	TBX22	LRP2	LETM1	PIBF1	CENPF	INPP5E	CPLANE1	NODAL	CRYAA	HMX1	SALL4	TCTN1	NSD2	SEMA3E	CHD7	LARGE1	NOTCH2	TMEM216	AAAS	PTCH2	MPDZ	POMT1	PNPLA6	MBTPS2	PTCH1	FKTN	NRAS	CEP290	CPLX1	POLR1D	WASHC5	SPTBN1	YAP1	COL4A1	SIX3	POMGNT2	SALL2	CDON	SMO	B9D1	NPHP1	CRYGC	CRYBB1	POGZ	RERE	DACT1	NAA10	ALX3	PORCN	KIAA0586	GJA8	TRIM37	WNT3	DISP1	MAFB	CHN1	HRAS	ALG3	ADNP	DHCR7	FGFRL1	FGF8	HCCS	ANK1	DYRK1A	RSPO2	SMCHD1	ZNF423	RBP4	TDGF1	KATNIP	CBY1	TENM3	PRR12	FKRP	ZIC2	CEP104	TGIF1	FLNA	GZF1	NDUFB11	PUF60	POMGNT1	VPS13B	POLR1B	FOXH1	POMK	TCOF1	SIN3A	FLI1	RPGRIP1L	CCDC22	ATOH7	GMPPA	HYLS1	ARMC9	CRPPA	FGF3	GDF3	MED12L	B4GAT1	ARL3	CRYGD	CSPP1	MMP2	SALL1	SHH	ARL13B	TMEM231	POMT2	ROR1	TMEM138	GLI2	B3GLCT	FGFR2	MMP14	DLL1	SIX6	SRD5A3	KIFBP	BMP4	ALG2	VSX2	CRYBA4	TCTN2	NOTCH3
HP_PHOTOPHOBIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHOTOPHOBIA	IL12A-AS1	DCT	PROM1	IL12A	GNAT2	EPCAM	TYR	TGFBI	USH2A	PRPF3	CACNA2D4	POLA1	LCA5	CFAP418	POC1B	CNGB3	ITGB6	TAT	ITM2B	LRAT	KIZ	PCNA	CDHR1	IFT140	NEK2	CTNS	TIMM8A	NR2E3	RP2	MBTPS2	CRX	SLC24A5	KRT5	RAX2	PSAP	RP1	CRYGC	GNB3	ERCC3	NMNAT1	RAB28	IMPDH1	HLA-B	COL17A1	OVOL2	IMPG1	MPLKIP	AP3D1	ERAP1	KCNJ13	DDB2	PRPH2	RHO	ANTXR1	HK1	GTF2E2	POMGNT1	RPE65	AHR	RGS9	CNNM4	UNC119	SLC7A14	PCARE	STAT4	RIMS2	ERCC6	UBAC2	ERCC2	AFG3L2	HPS6	ESR1	OPN1SW	REEP6	SLC1A3	ERCC1	TACSTD2	IFT88	IDH3B	MCOLN1	DKK1	FAM161A	XPA	RPGRIP1	HGSNAT	MEFV	PDE6H	PDE6A	AP1B1	SREBF1	TLCD3B	KLHL7	ABCA4	DHX38	TP63	GALC	EDNRA	GRHL2	KRT3	XPC	LYST	ROM1	ALMS1	GUSB	SPATA7	SLC45A2	RDH12	TTC8	CACNA1F	NLRP3	C1QTNF5	OPN1MW	PRPF6	GTF2H5	GJB2	CCR1	HARS1	TARS1	TTLL5	MAPT	NRL	RIMS1	ELOVL1	IDH3A	MFRP	ERCC4	CST6	ATXN7	RPGR	SEMA4A	BBS2	RDH5	ARL6	CLCC1	KCNV2	TOPORS	SNRNP200	GUCA1B	CHST6	PITPNM3	CNGA3	CABP4	CEP250	CNGB1	CERKL	RP1L1	OPN1LW	PNPLA6	AIPL1	ZNF408	LSS	AHSG	ZEB1	CA4	GPR143	WNT10A	IKZF1	BLOC1S5	FOXC2	TLR4	ERCC8	SCN1A	PDE6G	IL10	GUCA1A	GUCY2D	EYS	NOTCH2NLC	COL8A2	EFEMP1	RBP3	CFI	SAG	VSX1	SLC39A4	IMPG2	RGR	ATF6	MAK	ERCC5	AGBL5	KIAA1549	AIRE	OCA2	HADHA	GJB6	ARL3	RNF113A	PLCD1	SCAPER	CEP78	AP3B1	PIKFYVE	BEST1	KRT14	RLBP1	CNGA1	DRAM2	MERTK	OFD1	CFAP410	PRCD	PDE6C	PRPF8	CLTRN	ALDH3A2	TNF	NLRP1	GJA1	ARHGEF18	IFNGR1	ZNF513	POLH	RTN4IP1	NOD2	RP9	FSCN2	C4A	TUB	LRMDA	DHDDS	ARL2BP	MC1R	ADAM9	IFT172	PDE6B	CLRN1	KLRC4	KRT12	LTBP2	TULP1	PRPF4	HLA-A	RGS9BP	CFH	CRB1	IL23R	ST14	FAS	HLA-DRB1	PRPF31	AHI1	SLC6A19
HP_ABNORMAL_NASOLACRIMAL_SYSTEM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NASOLACRIMAL_SYSTEM_MORPHOLOGY	SMC3	SLC25A24	NOP10	TP63	KRAS	KAT6A	PIK3CD	FGFR1	SIX1	FREM2	TCOF1	PPP1CB	EP300	FGFR2	TET3	PAX3	PTDSS1	FGF10	BTNL2	FOXL2	KNSTRN	YY1	PAX1	SOX6	EYA1	MED12	FRAS1	UBR1	TFAP2A	IGSF3	KIF11	HCCS	BIRC3	SATB2	CD151	PEX6	KAT6B	PRR12	COX7B	GJB2	FGFR3	PRMT7	FOXP1	HMX1	NDUFB11	TWIST1	TAF1	PEX1	LEMD3	COL3A1	GRIP1	SOX10	CREBBP	FREM1	NHP2	SMCHD1	HLA-DRB1	BCL10	GJB6	MBTPS2	SIX5	MALT1
HP_ABNORMAL_PUPIL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PUPIL_MORPHOLOGY	CPAMD8	FBN1	MAB21L2	ATOH7	FOXC1	ZEB2	RB1	CPLX1	FGFRL1	COL4A1	KRT25	RHOA	FZD4	ADAMTSL4	PHOX2B	ZEB1	LIPH	GPR143	LETM1	LPAR6	NDP	POMT2	PMP22	STIM1	CTBP1	KRT71	GRHL2	OCRL	PIK3R1	DDX6	SH3TC2	COL8A2	KRT74	MPZ	PITX2	GJA1	PAX6	OVOL2	VSX1	LOXL1	GMPPA	AAAS	TONSL	ELP1	TINF2	COL3A1	RBP4	WT1	TBX2	PTEN	LAMB2	NSD2	TMEM67	SALL4	PCYT1A	AP3D1	ARL6IP6	MAFB	CHN1	SIN3A
HP_MIOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MIOSIS	PEX7	ORAI1	STIM1	NOTCH2NLC	KIF1B	SIX6	DNMBP	HHAT	PHYH	DDC	GNB2	ZFHX4	COL25A1	CHRDL1
HP_ABNORMALITY_OF_OCULAR_SMOOTH_PURSUIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_OCULAR_SMOOTH_PURSUIT	NOP56	SPTBN2	TTBK2	ATXN2	EEF2	CACNA1A	TSEN54	STUB1	MRE11	TPP1	ATXN8OS	SCYL1	DPM2	XRCC4	STT3A	INPP5E	WARS2	ITPR1	PMPCA	PIK3R5	ELOVL4	KCND3	PDHB	RARS1	DARS2	TBCD	FMR1	SYT14	MAN2B1	PRKCG	SPG11	TBP	ATXN1	RUBCN	PRNP	ALS2	GJB1	CACNA1G	SACS	TMEM216	THG1L	PAFAH1B1	ATP2B3	POLR3A	ATN1	SETX	ATXN3	STXBP1	TMEM240	FGF14	TULP1	PLA2G6	GNB1	KCNC3	ANO10	PEX10	FTL	ZFYVE26	GBA2	SYNE1	RFC1	POLR3B	ATXN10
HP_BLINDNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLINDNESS	TIMP3	NDE1	IL12A-AS1	NDUFB3	PROM1	UFM1	NDUFA1	FKTN	IL12A	TMEM237	HSD17B10	NDUFB9	PLOD1	USH2A	NDUFAF5	PRPF3	ATIC	ABCD1	LRAT	KIZ	TCIRG1	NDUFV1	IFT140	NEK2	NDP	PRPF31	FOXRED1	NR2E3	BTNL2	RP2	MT-ND3	MT-ATP6	SDHA	PSAP	RP1	NSMCE2	GLB1	GNAQ	LRP5	CEP290	HCCS	BAP1	IMPDH1	HLA-B	IMPG1	TBC1D24	ERAP1	C1QTNF5	ACTB	SMARCE1	NF2	NDUFS6	XRCC4	OPA3	GALC	FKRP	CFAP418	NDUFAF1	CAPN5	TRAF7	POMGNT1	AHR	SMO	NDUFAF2	NDUFAF8	TMEM216	CC2D2A	ARNT2	SLC7A14	NDUFAF3	PCARE	STAT4	FRAS1	NDUFS1	UBAC2	AKT1	PLA2G6	REEP6	GM2A	MT-ND2	EIF2B2	IFT88	IDH3B	MTR	FZD4	FAM161A	HGSNAT	MEFV	NLRP3	PGK1	NDUFS8	PDE6A	FREM2	SREBF1	KLHL7	ABCA4	DHX38	HPS1	FDXR	ASPA	ITGB3	NDUFS2	SMARCB1	DHX37	GMPPB	CTC1	ROM1	ALMS1	MTRR	NDUFB10	SPATA7	RPE65	NF1	RDH12	SUFU	UROS	CLCN7	PRPF6	CCR1	TMEM126B	CRX	POGZ	NAA10	NRL	IDH3A	CTNNB1	CD109	TIMMDC1	LONP1	TERT	POMT2	PDGFB	ATXN7	LAMB2	BBS2	ARL6	BCOR	OAT	PEX6	TOPORS	ZNF408	SNRNP200	GUCA1B	PIK3CA	CNGA3	CNGB1	EIF2B1	EIF2B4	GNAS	HEXB	CERKL	RP1L1	PIK3R2	PLG	ADAMTS10	NDUFS3	NDUFAF4	ITGA2B	CA4	PANK2	SMCHD1	NDUFB11	CLN3	ZNF423	TLR4	SCN1A	GNAT1	PDE6G	SDHB	IL10	POMT1	GUCY2D	RHO	POLG	ATP1A3	NDUFS4	EIF2B5	RBP3	KIF14	GJB2	CREBBP	NDUFS7	CDH3	PRPH2	SAG	CDH23	TMEM67	COL2A1	PPT1	GP1BA	BMP4	IMPG2	RGR	MAK	AGBL5	KIAA1549	CDHR1	WHRN	RPGR	ARL3	SCAPER	POMK	MFSD8	PRPS1	PROS1	BEST1	CNGA1	B3GALNT2	MERTK	OFD1	PRCD	EYS	PRPF8	ATOH7	UROD	ARHGEF18	IFNGR1	TSPAN12	ZNF513	FLVCR1	ATRX	RP9	CYP4V2	FSCN2	TTC8	C4A	TUB	CEP164	DHDDS	ARL2BP	GP1BB	NDUFA11	IFT172	PDE6B	PDHA1	AIP	FBN1	SLC24A1	HEXA	CLRN1	KIF11	PITX3	TMEM231	CTNS	KLRC4	B4GAT1	TMEM138	MTTP	COX7B	NDUFV2	NDUFA6	GATA1	MEN1	TULP1	ITGA2	PRPF4	MT-ND1	SDHAF1	SEMA4A	CRB1	IL23R	RD3	EIF2B3	RLBP1	SDHD	GRIP1	TNFSF11	FAS	HLA-DRB1	PQBP1	NUBPL	SARDH	AIPL1	AHI1	LARGE1
HP_DACRYOCYSTITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DACRYOCYSTITIS	TP63	FGFR2	FGF10	LEMD3	IGSF3	BTNL2	SATB2	FGFR3	PRMT7	HLA-DRB1
HP_ENTROPION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENTROPION	XPA	GMNN	ZMPSTE24	LMNA	ERCC5	ALDH1A3	POLH	DDB2	ERCC2	IKZF1	PPP2R1A	ERCC4	TP63	ATP6V1E1	ERCC3	ATP6V1A	XPC	ERCC6	HLA-B	POLR3A
HP_BLURRED_VISION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLURRED_VISION	MAPT	TACSTD2	NLRP3	VSX1	CACNA1A	SLC12A3	MT-ND6	COL4A1	MT-ATP6	MT-ND2	MT-CO3	MT-ND1	LCA5	APOA1	HLA-A	MT-CYB	NDUFS2	ZEB1	MT-CO1	SPATA7	OVOL2	ABCA1	RPE65	MT-ND4L	SCN4A	SLC4A11	TGFBI	NOP56	GRHL2	KCNA1	DNAJC30	CLCNKB	MT-ND4	LRAT	COL17A1	SCN9A	DBH	HLA-DRB1	COL8A2	ATP1A2	MT-ND5
HP_SUPRANUCLEAR_OPHTHALMOPLEGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPRANUCLEAR_OPHTHALMOPLEGIA	ATXN3	ATXN1	ATXN2	ATXN7	GBA
HP_EYELID_COLOBOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EYELID_COLOBOMA	TXNL4A	POLR1B	FLI1	CCNQ	DHODH	RNASEH2B	ALX1	POLR1C	SF3B4	CHD7	RIPK4	TWIST1	FGFR1	ADAR	KCTD1	POLR1D	TCOF1	SEMA3E	EDNRA	ESCO2	CDH11	FREM1	KRAS	RNASEH2A	TREX1	RNASEH2C	FRAS1	SLC25A24	IFIH1	ADNP	SAMHD1
HP_POSTERIOR_EMBRYOTOXON	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_EMBRYOTOXON	PEX1	MLXIPL	GTF2IRD2	PEX14	COMT	FOXC1	PAX6	TBX1	HIRA	NOTCH2	VPS37D	PEX11B	ELN	BCL7B	TMEM270	GTF2I	PEX2	PEX3	NCF1	PITX2	PEX6	RFC2	PEX19	PIK3R1	DGCR6	YAP1	PEX10	LIMK1	PEX13	EIF4H	HCCS	PEX5	JAG1	PEX12	PEX26	FKBP6	COX7B	STX1A	HMX1	BAZ1B	DGCR8	DGCR2	NDUFB11	ARVCF	SEC24C	HS2ST1	RREB1	METTL27	TBL2	CLIP2	GP1BB	BUD23	UFD1	GTF2IRD1	DNAJC30	PEX16	ESS2	JMJD1C	SLC38A8
HP_PERIORBITAL_FULLNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIORBITAL_FULLNESS	MED13	ANKRD17	MAB21L2	SPEN	IL1RAPL1	GNE	PCGF2	MLXIPL	KMT2E	CLCN4	AGTR2	RBMX	DOCK7	WDR4	ARX	DMD	ARHGEF6	PPP2CA	ZNF41	GDI1	IQSEC2	FTSJ1	ACSL4	ASXL3	YY1	RPS23	UPF3B	PEX19	FGFR2	RPS6KA3	VPS33A	DLG3	SYP	TASP1	NRAS	MID2	ELN	TUBB	ZNF711	FGFR3	PTCHD1	TSPAN7	SRCAP	TWIST2	USP27X	FGF10	MED12	HS2ST1	SLC9A7	FRMPD4	ZNF81	PAK3	ALG13	MECP2	CHD1	EDEM3	RAB39B	USP9X	CNKSR2	STEEP1	HRAS	HCFC1	GATAD2B
HP_ABNORMAL_RETINAL_ARTERY_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RETINAL_ARTERY_MORPHOLOGY	LRP5	MT-ND4L	MLXIPL	HEXB	GTF2IRD2	FZD4	COMT	SELENOI	DARS1	CTSA	COL4A1	HIRA	MT-ND6	VPS37D	SMPD1	MT-ND5	MT-ND1	ELN	ASAH1	BCL7B	TMEM270	GTF2I	TBX1	GALC	ABCC6	NCF1	RFC2	MYOC	F12	MT-ATP6	LIMK1	PSAP	GLB1	DNAJC30	EIF4H	HEXA	CYP1B1	TMEM231	MT-ND4	PRPF3	GM2A	FKBP6	STX1A	IGFBP7	BAZ1B	NEU1	ARVCF	SEC24C	RREB1	METTL27	TBL2	CLIP2	MT-CO3	GP1BB	TULP1	BEST1	BUD23	UFD1	GTF2IRD1	NEK1	ENPP1	MT-ND2	JMJD1C	NDP	MT-CYB
HP_RETINAL_ARTERIAL_TORTUOSITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_ARTERIAL_TORTUOSITY	MT-ND4L	MT-ND6	DNAJC30	MT-ATP6	MT-CO3	NEK1	MT-ND2	SELENOI	MT-ND5	MT-ND1	MT-ND4	MT-CYB
HP_LACRIMATION_ABNORMALITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACRIMATION_ABNORMALITY	SLC12A2	MLXIPL	GTF2IRD2	ATOH7	LIFR	NOP10	MADD	SIX1	FZD4	DKC1	ERCC8	VPS37D	DST	AP1B1	SREBF1	ZEB1	ELP1	ELN	FGFR2	BCL7B	TP63	TMEM270	GTF2I	NDP	NCF1	SLC39A14	RFC2	FGF10	GRHL2	OCRL	KRT3	FOXL2	NGLY1	SOX10	LIMK1	ALX4	PAX1	COL17A1	EYA1	EIF4H	TWIST2	COL8A2	UBR1	IGSF3	TRAPPC11	KRT12	OVOL2	MAPT	NLRP3	SETBP1	SDHD	FKBP6	VSX1	GMPPA	STX1A	AAAS	SCN9A	FGFR3	ERCC6	CHD7	BAZ1B	PIGQ	SEMA3E	METTL27	PAX3	CLDN10	TBL2	CLIP2	ERCC4	SEMA4A	BUD23	TINF2	NHP2	GTF2IRD1	DNAJC30	HLA-DRB1	LRP1
HP_DECREASED_LACRIMATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_LACRIMATION	MAPT	SLC12A2	SETBP1	MADD	GMPPA	AAAS	FGFR3	ERCC6	ERCC8	DST	ELP1	AP1B1	PIGQ	FGF10	CLDN10	ERCC4	FOXL2	NGLY1	SOX10	ALX4	PAX1	FGFR2	TRAPPC11
HP_BLUE_IRIDES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLUE_IRIDES	MLXIPL	GTF2IRD2	TYR	SLC45A2	MC1R	TYRP1	VPS37D	ELN	BCL7B	TMEM270	GTF2I	HERC2	NCF1	MITF	RFC2	UBE3A	PAX3	LIMK1	OCA2	TP63	SOS1	EIF4H	PRKAR1A	UROC1	PRR12	FKBP6	SOX10	STX1A	BAZ1B	PDE4D	METTL27	TBL2	CLIP2	MAPK1	BUD23	EDN3	GTF2IRD1	EDNRB	SNRPN	DNAJC30	PAH
HP_UPPER_EYELID_COLOBOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_EYELID_COLOBOMA	TWIST1	FRAS1	SLC25A24	ALX1	TCOF1	FREM1
HP_LONG_PALPEBRAL_FISSURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_PALPEBRAL_FISSURE	AFF3	SPEN	TGFB3	ADNP	IL1RAPL1	CAMK2G	ROR2	CLCN4	PIK3R2	CCNK	KDM6A	MAP2K1	ACTB	ZNF41	ANKRD11	LMNB1	GDI1	FTSJ1	HNRNPK	ACTG1	PIGW	DLG3	BMP1	PGAP3	PRR12	KMT2D	MID2	FIBP	PIGY	SPOP	DVL3	PGAP2	CLP1	PIGL	KRAS	SLC9A7	FRMPD4	MIR140	ARX	ALG13	RAB39B	PCLO	CNKSR2	STEEP1	DDB1	AP3B2	BRAF	RNU4ATAC	RAC1	WAC	FZD2	AGTR2	PIGO	WNT5A	DVL1	DMD	ARHGEF6	PIGV	IQSEC2	SPTBN1	ACSL4	UPF3B	MAP2K2	RPS6KA3	IPO8	SYP	PDE4D	ZNF711	PTCHD1	TSPAN7	GNB2	USP27X	NXN	MED12	EIF5A	PURA	ZNF81	OTUD6B	PAK3	MECP2	USP9X	HCFC1	GATAD2B
HP_GAZE_EVOKED_NYSTAGMUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GAZE_EVOKED_NYSTAGMUS	SACS	SOX3	ATXN2	UBAP1	PMPCA	CACNA1A	GCH1	STUB1	MRE11	CACNB4	GRM1	BEAN1	VLDLR	ITPR1	PIK3R5	SDHA	COQ2	SPTBN2	APTX	SPG11	ATXN3	PRKCG	WWOX	UROC1	TBP	ATXN1	GRID2	TDP1	THG1L	SETX	KCND3	SCN8A	FGF14	SCN1A	PRRT2	SYT14	CACNA1G	PAX7	AFG3L2	RFC1	ATXN10	ATP1A2	SLC1A3
HP_DYSMETRIC_SACCADES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSMETRIC_SACCADES	SPTBN2	ATXN2	UBAP1	TPP1	EEF2	ANO10	AFG3L2	PEX10	ATXN3	ATXN1	MRE11	SCYL1	FGF14	ITPR1	TGM6	MFN2	ATXN8OS
HP_RED_GREEN_DYSCHROMATOPSIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RED_GREEN_DYSCHROMATOPSIA	OPA1	OPA3	FGF14	OPN1MW	OPN1LW	C1QTNF5	ACO2	NR2E3
HP_AMBLYOPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMBLYOPIA	LAMA1	FBN1	ADNP	FGFR2	FGFR3	MLXIPL	NPHP4	AP4B1	ZEB1	SMCHD1	H1-4	NDP	ERF	FOXL2	CRYGC	PHOX2A	SMARCA2	DPP6	COL8A2	TRIO	HCCS	B3GAT3	ZMIZ1	PRR12	C1QBP	GPR143	PIGN	VSX1	ELN	COL9A2	GDF2	WARS2	LIM2	TWIST1	RRAS2	PUF60	SOBP	EPRS1	MICU1	CBS	SALL4	KAT6A	NF2	SMAD4	NR2F1	P4HTM	CHST3	ARHGEF2	WDR26	ATOH7	COL11A1	COL4A1	TBX1	COL9A1	FZD4	CHN1	CRYBB1	LOXL3	YME1L1	AP4S1	GRHL2	OCRL	CRYAA	CLCN6	RORA	ZFHX4	WAC	TFE3	ACVRL1	KIF11	FLNA	TASP1	XYLT2	PAX6	COX7B	MED25	MAP3K7	AP4E1	TUBB3	AP4M1	SCN8A	ADAMTSL4	COL25A1	OVOL2	NDUFB11	ENG	TANGO2	AFF4	AP1G1	DYRK1A	COL9A3	OGT	NFIX	MAFB	RIC1	PITX2	POLR3GL
HP_SCLEROCORNEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCLEROCORNEA	B9D2	MAB21L2	PIGG	DHCR7	PAX6	TBX1	SOX2	CEP290	HCCS	FGFR1	CPLX1	FOXE3	COX7B	TMEM216	FIG4	PXDN	NDP	TMEM107	B3GALT6	TCTN2	NELFA	TMEM67	RPGRIP1L	TENM3	VAC14	MKS1	LETM1	CC2D2A	CENPF	BMP4	SCARF2	B9D1	CSPP1	TMEM237	RPGRIP1	HMX1	NDUFB11	NSD2	TCTN3	CTBP1	TXNDC15	TCTN1	SLC25A24	TMEM231	RAX	PRDM5
HP_OPTIC_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPTIC_ATROPHY	RERE	PROM1	FKTN	KAT6A	NALCN	B3GALNT2	OPA3	DPM2	CKAP2L	CDC42	NT5C2	MT-ND1	TCIRG1	L2HGDH	PEX3	PLA2G6	CHSY1	TRAPPC11	RAB11B	ATXN1	TGFB1	EXOSC5	NDUFA10	MTHFR	ERCC2	RBM10	GTPBP2	FH	MT-ATP6	ISCA2	B9D1	POLR3A	TWIST1	ERCC5	TBCD	CASK	MT-CO1	SPG7	C19orf12	LRAT	STT3B	DIAPH1	SLC7A14	PCLO	PCARE	SLC6A9	SERAC1	PEX5	ACADS	RNU7-1	PLP1	ARV1	CLP1	PSAP	TIMM50	GLRX5	MT-ND6	HGSNAT	ERCC1	SRD5A3	SBF2	CASR	CPLX1	CTNNB1	DNMT1	ATP1A2	MT-TF	GALC	CLCN3	PEX6	PET100	IBA57	ASPA	YAP1	MMACHC	GJA1	SMOC1	GJC2	TUBB4A	NIPBL	PEX12	UBA5	NDUFAF2	SOX5	SCYL2	SLC19A2	PTCD3	GLB1	CRX	MT-TL1	TMEM63A	MT-CO3	GABRB2	ARL6	MTPAP	STAMBP	PEX11B	PEX16	GUCA1B	ZPR1	SLC44A1	PTPN22	IDS	CERKL	PDHX	RP1L1	PIK3CD	PLAA	NDUFV2	AUH	POMGNT1	NLRP3	PIK3CA	ATP1A3	NDUFA13	NDUFA4	ATXN7	RAB3GAP1	VPS13B	TBX1	SLC1A2	FLRT1	PEX13	KCNA2	NGLY1	AARS1	ATAD3A	ARSA	SLC52A2	PEX26	SOST	RAB18	AGBL5	ACTL6B	MT-TK	MTRFR	ERCC6	POMK	MICU1	PRPS1	WFS1	NDUFA12	PRCD	BRAT1	MFF	PEX14	FOXRED1	TUBGCP2	KIF11	CRPPA	GABRA5	UCHL1	DHDDS	ARL2BP	EMC1	TMEM107	ERCC8	TMEM67	PIGU	POMT2	CNKSR2	MKS1	PARS2	NECAP1	FGFR2	CLTC	TFG	ECHS1	PRICKLE3	RNF216	GLA	SEMA4A	DNAJC30	ADA2	RPS6KA3	SLC19A3	COX15	PRPF31	TNFRSF11A	PIGG	VCAN	PRPF3	PEX1	KCTD7	IFT140	RFC1	SCO2	TCTN2	OSTM1	RP1	ANTXR1	PRKAR1A	MT-TW	NUP62	TBC1D24	PRKCZ	THG1L	HIKESHI	WARS2	CSPP1	SDHA	MT-ND5	PCK1	TMEM237	GABRA2	GPAA1	CYP27A1	KNSTRN	FKRP	SEMA3E	CBS	LARGE1	UFD1	AFG3L2	TACO1	FSCN2	BRAF	EIF2B2	IFT88	FAM161A	XPA	MFN2	HIRA	CEP290	PLK4	KCNAB2	PDE6A	KLHL7	DHX38	WASHC5	SLC39A14	HCN1	PEX19	FDXR	SELENOI	TMEM126A	ROM1	MTFMT	VPS11	RPGRIP1L	RDH12	TSC2	SLC25A46	GNA11	PDPN	PRPF6	ACO2	NDUFB8	ELP1	NDUFS1	ZNF592	ERCC4	NDUFA6	SEC24C	XPC	SNRNP200	TMEM231	TUBGCP6	B9D2	TBC1D2B	ALG3	HSPG2	DPYD	POGZ	SNX10	SYNGAP1	GMPPB	RSPO2	DDB2	SPEN	MAP2K1	CELF2	SNAP29	NTRK2	HSD17B10	COA8	RAB3GAP2	MT-TS2	KLC2	MYO5A	GRN	RBP3	CNOT3	PRPH2	SAG	MPLKIP	MPDU1	CISD2	ALG13	RHO	GABRG2	TCTN3	NEU1	EPRS1	KCNC3	INPP5K	BEST1	MERTK	TXN2	TXNDC15	PANK2	MT-TV	MT-ND4L	UBE3B	NDUFS2	HLA-DRB1	CCDC22	BTD	ZNF513	SEC23A	OPA1	SCYL1	TRAPPC12	RP9	PRUNE1	MMUT	DENND5A	TTC8	PEX10	RPIA	PEX2	ERCC3	MT-ND4	GEMIN4	NDUFAF8	FGF13	TANGO2	SEC31A	ABHD12	CLRN1	WDR73	AAAS	TULP1	SON	CRB1	NDUFAF5	EIF2B3	TOE1	RREB1	MID2	DNM1L	DALRD3	COMT	POLR3K	HK1	KANSL1	DPM1	MT-CYB	CCDC88A	FRMPD4	KIZ	MT-ND3	FXN	NEK2	MRPS34	TIMM8A	ZNHIT3	SCN3A	DAG1	ERF	WDR45	DOCK6	NELFA	SZT2	IMPG1	LAMB1	LETM1	MT-TH	DNAJC19	SURF1	ARX	NFIX	ATG7	SLC29A3	FA2H	YWHAG	REEP6	FDX2	TSFM	TUBGCP4	NR2F1	NEDD4L	CA2	AKT3	RECQL4	PAX6	DARS2	ABCA4	NDUFS4	CACNA1A	KCNB1	NDP	COL4A1	SYNJ1	SPATA7	TBC1D7	POMGNT2	MT-CO2	ATRX	PRDM16	CHD7	NAGA	VPS53	POU3F4	BBS2	NDUFAF3	GRIN2D	ZEB2	AMPD2	FCSK	ATP6V1B2	NDUFS8	IKBKG	EPG5	CNGB1	EIF2B1	EIF2B4	AGXT	ASXL1	ZNF408	CA4	TNFRSF11B	CLN3	SIL1	AFF4	EEF1A2	PDE6G	MICOS13	WWOX	TMTC3	PNPLA6	POMT1	NDUFA9	EIF2B5	PPT1	IMPG2	RGR	CDHR1	MAG	CLCN7	LRP5	SCAPER	MFSD8	CTBP1	TBC1D20	TK2	OFD1	NBAS	EYS	TCTN1	PRPF8	KIF7	NMNAT1	FGFR3	CYFIP2	MGP	ARHGEF18	SLC13A5	KIF1A	DNM1	TUB	COG6	IFT172	PDE6B	NDUFS7	PDHA1	CFAP410	DGUOK	PIEZO2	TMEM222	B3GLCT	CC2D2A	ACOX1	NDUFA2	CNNM4	CFAP418	MT-TQ	SSBP1	GP1BB	AP3B2	SARDH	MOGS	PLEKHM1	POLG	NDUFAF4	ADAM22	LRP4	USH2A	ALG8	TMEM216	HLA-B	BOLA3	NR2E3	RP2	ATP6V1A	GNAQ	VPS33A	MECR	INTS8	RXYLT1	IMPDH1	IER3IP1	TSC1	NUS1	UBE4B	CSF1R	NSD2	SCN8A	ARVCF	AHR	TWNK	TBCE	HUWE1	NDUFV1	CDK19	MINPP1	DPAGT1	MPDZ	BCAP31	IDH3B	MCOLN1	DKC1	ST3GAL5	POLR3B	CTC1	MMP23B	RPE65	P4HA2	CACNA1B	PCYT2	RPGRIP1	NRL	IDH3A	PORCN	NOTCH2NLC	WNT3	TOPORS	TRAF7	MT-RNR1	DHCR7	NDUFAF6	NDUFS3	SUMF1	PPP3CA	MAK	MT-ND2	KIAA1549	LIPT1	TRAK1	RAB23	ADAR	RPGR	ARL3	KRAS	POLG2	CASZ1	CNGA1	MT-TN	P4HTM	JMJD1C	MT-TP	SH3BP2	NDUFA11	SLC25A19	FLVCR1	GMPPA	RHOA	YME1L1	FGF12	LUZP1	B4GAT1	SH3TC2	MAP2K2	GABRD	SKI	PRPF4	ATIC	PPP1R21	RLBP1	WDR4	TNFSF11	MTO1	PDSS1	NARS2	CYP7B1	AHI1
HP_ABNORMALITY_OF_VISUAL_EVOKED_POTENTIALS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_VISUAL_EVOKED_POTENTIALS	ARHGEF2	MFF	MOGS	PSAP	ZNHIT3	GALC	MPDU1	SNX10	ATXN1	POGZ	ARSA	POMGNT1	ERCC8	OPA1	TCIRG1	SUCLA2	RAB3GAP1	COX6B1	PRPS1	PROM1	TBC1D20	CLCN7	PLA2G6	TIMM8A	EMC1	CNGB3	POLG	SPG11	RAB3GAP2	CLN5	SCAPER	RDH11	FXN	TNFSF11	CLN8	ELOVL4	AAAS	NDUFS4	COQ2	TYR	NOTCH3	RAB18	GJC2	ABCA4	CYP27A1	SLC25A22	ERCC6	PRPH2	PDSS2	LAMA2	ACOX1	TTPA	NDRG1	MFN2	CWC27
HP_DIPLOPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIPLOPIA	PTPN22	CHRND	MYO5A	SNCA	MYO9A	PRKN	AGRN	PRNP	CACNA1A	SLC2A1	SLC1A3	TPP1	PARK7	SDHA	KCND3	HLA-B	ERCC3	DOK7	VAMP1	CHRNE	ATXN3	NOP56	GRK1	PINK1	KCNA1	PUM1	VPS13C	LRP4	TGFB1	TOP3A	SLC25A1	SCN4A	CDH23	SLC5A7	GBA	PDCD1	TMEM240	NFKB2	ERCC5	SLC18A3	LRRK2	SNAP25	COL13A1	ANO10	DNAJC13	NF2	ATP1A2	STAT6	SPTBN2	DKK1	SYT2	HLA-DRB1	GIGYF2	HTRA2	CHAT	DARS2	MUSK	ERCC2	SERPINI1	EIF4G1	VPS35	AIP	ERCC4	SYNJ1	CHRNA1	CACNA1G	DNAJC6	CHRNB1	P4HA2	PODXL	MEN1	MAPT	UCHL1	AK9	SCN1A	RAPSN	NAB2	PRRT2	HLA-DQB1	SAG
HP_LOWER_EYELID_COLOBOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_EYELID_COLOBOMA	TXNL4A	SF3B4	POLR1B	RIPK4	EDNRA	POLR1C	TCOF1
HP_SPARSE_EYELASHES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPARSE_EYELASHES	EDARADD	NOP10	DSC3	COL11A1	GJA1	EDA	ALX1	LIPH	DKC1	CLDN1	GJB6	WDR35	RMRP	TCOF1	DPH1	FIG4	DOLK	SOX18	EDNRA	BANF1	GJB2	NECTIN4	EBP	RECQL4	EDAR	DSG4	SMARCA2	KRT25	ALX4	TP63	NECTIN1	NF1	ZMPSTE24	TRPS1	TWIST2	KANK2	KREMEN1	MBTPS2	APCDD1	POLR3A	ANTXR1	B4GALT7	VAC14	LPAR6	KRT74	GTPBP2	ODC1	SPINK5	MPLKIP	TSR2	SF3B4	DLX4	LSS	SNRPE	LMNA	CST6	EPS8L3	BLM	RNU4ATAC	NHP2	RPL21	TMCO1	DSP	CDH3	HRURF	ITGA3	CWC27
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	IDS	RPE65	MCOLN1	ALG3	SAG	PPT1	RGR	USP45	ACOX1	LARGE1	IDH3B	RHO	BEST1	GUCY2D	POMGNT1	CYP4V2	LRAT
HP_ECTROPION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTROPION	CTLA4	TWIST2	NIPAL4	FLI1	ABCA12	DHODH	XPA	TGM1	UROD	KDM6A	ABCA1	CTNND1	POLH	RIPK4	ALOXE3	CDC42	DDB2	TNFRSF1B	KMT2D	FERMT1	FOXC2	APC	ERCC3	ALOX12B	CYP4F22	FOXL2	SULT2B1	XPC	PLEC	ITGA6	MBTPS2	LIPN	POLR3A	IPO8	MPLKIP	UROS	PNPLA1	CDH1	GTF2H5	GATA1	TARS1	CARD14	ERCC5	CD28	ITGB4	DLX4	GRIA3	CERS3	ERCC2	RNF2	SDR9C7	ABHD5	RNF113A	HNRNPK	ERCC4	GTF2E2	GBA	ERCC6	LRP4
HP_OCULOMOTOR_APRAXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCULOMOTOR_APRAXIA	ITPR1	SOX3	LAMA1	TMEM67	CPLANE1	PSEN2	CEP120	TMEM231	MKS1	STUB1	MRE11	BRAF	EXOSC3	DNM1L	GBA	INPP5E	FA2H	ABCA7	PIK3R5	KIAA0586	TMEM107	CEP41	ZC4H2	NGLY1	PNKP	KDM1A	DLAT	CC2D2A	PIGW	CEP290	KATNIP	AHI1	CBY1	PGAP3	CACNA1G	TMEM216	TMEM138	CEP104	PIBF1	KIAA1109	TOE1	PGAP2	GPAA1	TCTN1	TYROBP	PIGL	ARL3	TOGARAM1	CRKL	PEX2	APP	UFC1	ATXN2	BCR	IFT74	RPGRIP1L	MYO9A	PSEN1	TREM2	PMPCA	HYLS1	ATP1A2	ARMC9	PIGO	SUFU	APTX	PIGV	MAST1	ARL13B	TOMM40	AFG3L2	ATP1A3	TUBB3	CSPP1	RORA	KIAA0753	CACNA1A	SLC1A3	TPP1	TMEM237	SQSTM1	B9D1	NPHP1	ABCD1	GRID2	SETX	SLC30A9	PIGY	MAPT	MAPK1	PDE6D	IFT172	TMEM218	CWF19L1	SORL1	XRCC1	SPR	TCTN2
HP_EYELID_APRAXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EYELID_APRAXIA	PANK2	MAPT	PLA2G6	SYNJ1	ATP13A2
HP_PETERS_ANOMALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PETERS_ANOMALY	RERE	PITX2	PRR12	FKTN	FOXC1	B3GLCT	PAX6	CENPF	TRIM44	CRPPA	FKRP	FOXE3	POMT2	CYP1B1	NCAPG2	WDR37	POMT1	CDH2	PITX3	LARGE1
HP_LIPEMIA_RETINALIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIPEMIA_RETINALIS	APOC2	LPL	GPIHBP1	G6PC1	SLC37A4
HP_NYCTALOPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NYCTALOPIA	GRM6	PROM1	SAG	SNRNP200	PDE6B	TCF4	NYX	USH2A	PRPF3	CACNA2D4	PEX1	LCA5	CFAP418	POC1B	ITM2B	LRAT	KIZ	GRK1	BBS4	TRPM1	MERTK	RLBP1	CDHR1	IFT140	NEK2	FLVCR1	ARL6	PRPF31	NR2E3	RP2	RAX2	RP1	GUCY2D	GNB3	NMNAT1	RAB28	IMPDH1	IMPG1	CRB1	BEST1	ELOVL4	AGBL5	C1QTNF5	KCNJ13	RHO	CACNA1F	PEX7	TULP1	HK1	RPE65	CNGA1	POMGNT1	AHR	SLC4A11	CNNM4	UNC119	RNU4ATAC	MYO7A	SLC7A14	PCARE	DPAGT1	ADGRV1	IFT172	PEX5	REEP6	FSCN2	IFT88	IDH3B	PRPH2	FAM161A	HGSNAT	PHYH	PDE6H	PDE6A	CHM	GUCA1A	KLHL7	ABCA4	DHX38	COG4	TRAPPC9	CNGB3	INPP5E	TLCD3B	COL8A2	KIAA1549	ROM1	LRIT3	SPATA7	MMP19	RDH12	TTC8	KIF3B	HKDC1	PRPF6	PEX2	ARSG	CRX	TTLL5	SLC24A1	HARS1	NRL	RIMS1	IDH3A	MFRP	POU3F4	SEMA4A	BBS2	RDH5	CLCC1	OAT	KCNV2	TOPORS	GPR179	GUCA1B	PEX16	ZPR1	CABP4	CNGB1	IDS	ZEB1	CERKL	RP1L1	GGCX	OPN1LW	PEX11B	AIPL1	PITPNM3	ZNF408	CA4	VPS13B	ARL3	WHRN	GNAT1	PDE6G	PEX12	EYS	CLRN1	ESPN	RBP3	RP9	AGBL1	RPGRIP1	IMPG2	RGR	ATF6	PRPF8	MAK	CYP4V2	TRNT1	HADHA	RPGR	SCAPER	PEX6	DRAM2	OFD1	PRPF4	CFAP410	PRCD	USH1C	CEP78	ARHGEF18	MYO6	CIB2	ZNF513	HSD3B7	PEX14	CNGA3	TUB	PEX10	DHDDS	ARL2BP	PEX3	ADAM9	STIM1	MT-TS2	USH1G	PEX26	CDH23	FGFR2	RDH11	MTTP	PEX13	PEX19	TIMP3	YARS1	MFN2	OPN1MW	PCDH15	MVK	PDZD7	CWC27	TTPA	AHI1
HP_HORIZONTAL_NYSTAGMUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HORIZONTAL_NYSTAGMUS	SPTBN2	CNGB3	SACS	TTBK2	SOX3	ATP13A2	GBA	ERLIN2	GCH1	LRP5	STUB1	LMNB1	OPA1	DNM1L	PSAP	GRM1	KIF1C	BEAN1	ITPR1	CACNA1A	TAF2	IARS2	MARS2	LYST	AIFM1	LARGE1	SPTBN4	UROC1	HPS4	TMEM126A	PET100	EXOSC5	NUP62	HPS5	GRID2	TPP1	CACNA1G	GATA3	MAB21L1	BLOC1S3	IQSEC2	PEX5	GPR143	GRIK2	THG1L	SURF1	HARS1	PLP1	KCND3	MRPL12	HMX1	FRMD7	ALG13	SNIP1	FA2H	MT-ATP6	ADAR	ALDH18A1	DAB1	SCN1A	COQ5	AP3B1	PRRT2	SYT14	TBC1D24	SIX6	CWF19L1	PAX7	ANO10	KCNV2	DPP6	IDH1	POLR3B	NFIX	FAR1	ATP1A2	HPS3
HP_PHTHISIS_BULBI	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHTHISIS_BULBI	NDP	MARK3	ATOH7	CDH11	BRD4	HDAC8	RAD21	COL18A1	FZD4	LRP5	HMX1	SMC1A	BCOR	NIPBL	SMC3
HP_HYPODONTIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPODONTIA	WNT10A	EDARADD	PIGG	MLXIPL	OFD1	DKC1	ITGB4	PRKACB	TP63	FLNB	CCDC28B	POLR3K	IFT122	SMG8	CEP85L	TRPV3	EVC	GTF2I	APC	NCF1	PITX2	CHSY1	CTBP1	ROR2	CTSK	SCN3A	SMARCAL1	LIMK1	NECTIN1	EIF4H	NTRK2	HSPA9	NELFA	SZT2	PRKAR1A	HMGA2	IRF6	FGD1	XYLT1	POP1	LETM1	DDX59	TBX3	MBTPS2	POLR3A	ZMPSTE24	NUS1	GABRA2	CEP152	FGF10	CTC1	NSD2	CFAP418	SCN8A	EVC2	GRHL2	SCUBE3	IKBKG	GLI1	CREBBP	FGFR3	POLR1C	RMRP	LMNA	ATP1A3	CDK19	POLR3B	YWHAG	BBS1	NSD1	EDAR	MID1	ARV1	FGF3	FZD2	EDA	LAMC2	SETD2	CPLX1	NPM1	ARL6	ATP1A2	BCL7B	CACNA1A	FOXC1	KCNB1	HCN1	TRAF6	DYNC2LI1	SYNJ1	FGFR2	KCNN3	SLC39A13	RTEL1	NFKBIA	NKX2-1	UBA5	TSPEAR	CACNA1B	WDR35	WDR19	NXN	PORCN	METTL27	TBL2	GABRB2	GDF5	NHP2	RPS6KA3	GRIN2D	TRIM37	DVL1	PARN	IFT43	WWOX	APC2	SYNGAP1	FGFRL1	KDM6A	CLDN1	LEMD3	ELN	USB1	CELF2	TMEM270	SLC1A2	EEF1A2	MSX1	RFC2	KCNA2	AARS1	LAMB3	PPP3CA	COL17A1	FKBP6	CDH1	STX1A	IRX5	DNAJC21	ATP6V1A	PIGL	DVL3	ACTL6B	PIK3R1	BAZ1B	OTUD5	TRAK1	GABRG2	ADAMTS2	RBM28	KDF1	BUD23	TERC	DNAJC30	GTF2IRD2	BCL11B	KCNH1	CYFIP2	MTX2	TRIO	NOP10	PTH1R	VPS37D	KIF1C	WNT5A	SLC13A5	RNF13	EP300	FGF12	DNM1	GABRA5	KMT2D	PPP2R3C	IFT52	CKAP2L	FGF13	CNKSR2	PARS2	NECAP1	CLTC	TINF2	WRAP53	PUS7	GRHL3	DHDDS	TERT	LEMD2	CLIP2	LAMA3	GTF2IRD1	ATP6V1B2	ACOX1	AP3B2	LRP4	DALRD3	PERP
HP_CARIOUS_TEETH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARIOUS_TEETH	PLEC	EFL1	TERC	MLXIPL	DKC1	ITGB4	COMT	KRT14	NDN	SFRP4	SNRPN	TRPV3	TINF2	AGA	TCIRG1	GTF2I	NCF1	MMP13	CTSK	IRF5	LIMK1	TERT	EIF4H	KLK4	RUNX2	TGFB1	SLC24A4	ERCC3	TBX1	MPLKIP	MBTPS2	COL17A1	ATR	SGMS2	FGF10	CTC1	FAM111A	CCN2	ARVCF	GTF2E2	COL7A1	NECTIN1	CREBBP	CDH11	FGFR3	CNNM4	VDR	UFD1	NHP2	MYO7A	CDH3	PARN	ADGRV1	THOC6	PTCH1	NOP10	SLC37A4	LAMC2	LAMA3	HIRA	ERCC8	ALPL	NPM1	ATP6V1A	SLC10A7	BCL7B	TP63	OCRL	APC	FGFR2	ABL1	SHOC2	MKRN3	RTEL1	GJA1	CLCN7	GTF2H5	COG6	PTCH2	TARS1	CAV1	GLB1	SBDS	LAMB3	DNAJC21	SEC24C	USH2A	METTL27	TBL2	NPAP1	IFT52	ERCC2	PWAR1	AKT1	B3GALT6	CTNND1	GALNS	COL2A1	ELN	ENPP1	USB1	TMEM270	FERMT1	RFC2	WHRN	CCR6	ATP6V0A2	PAX1	UBE3B	RECQL4	FKBP6	STX1A	OFD1	ACP4	SRP54	SRCAP	BAZ1B	MMP1	COL3A1	RNF113A	ERCC6	AP3B1	MAGEL2	RBM28	BUD23	ANAPC1	DNAJC30	TBCE	JMJD1C	GTF2IRD2	SEC23A	SUFU	VPS37D	HERC2	CRLF1	EP300	ATP6V1E1	TRPS1	FGF3	PPP1CB	PWRN1	PTEN	PKP1	SNORD115-1	PEPD	ZMYM2	SATB1	WRAP53	MAPRE2	IFIH1	CDH1	RREB1	CLIP2	TNFSF11	GP1BB	SNORD116-1	COX4I2	GTF2IRD1	HLA-DRB1	PDZD7	PERP
HP_ANODONTIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANODONTIA	FLNA	IFT122	EDARADD	EDAR	NECTIN1	ERCC8	ERCC4	FZD2	RPS6KA3	DCAF17	DVL3	ERCC6	GRHL3	DVL1	WNT5A	EDA	ERCC1
HP_MACRODONTIA_OF_PERMANENT_MAXILLARY_CENTRAL_INCISOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACRODONTIA_OF_PERMANENT_MAXILLARY_CENTRAL_INCISOR	KCNMA1	TBC1D24	CTCF	FARS2	COL11A1	GRIA3	BRF1	ATP6V1B2	GJA1	VPS13B
HP_ABNORMALITY_OF_THE_INCISOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_INCISOR	GAS1	PTCH1	NTNG2	ZMIZ1	SHH	TRMT1	KDM4B	FREM1	AXIN2	EVC	SIX3	BCOR	TBC1D24	CTCF	EIF4A3	PSMD12	CHSY1	TGIF1	MED13	STAG2	DOCK3	WNT10A	MED27	CLCN3	TGFA	NODAL	CDON	NHS	FOXH1	DLX4	DLL1	FGF10	WNT10B	FGF8	NECTIN1	FGFR1	ZIC2	EVC2	ACTL6B	DLG1	SCUBE3	TNRC6B	GLI1	GLI2	CREBBP	EMC10	DOCK7	ALX3	CCBE1	DPYSL5	NEK1	CNOT1	TDGF1	TANC2	PTPN23	TRIP12	SMC1A	DDX6	IRF6	BCAS3	MADD	MAPK8IP3	KCNMA1	PALS1	STIL	ARHGAP29	DYNC2LI1	FBXW11	WDFY3	ACTL6A	FGFR2	COL11A1	BPTF	TCF20	IKBKG	MSX1	FARS2	BRF1	ATRX	FGFR3	SUFU	NAA10	BCORL1	DISP1	RLIM	CCDC32	MYT1L	HS2ST1	ATP6V1B2	ANKRD17	SRCAP	SATB1	STAG1	VPS13B	SLC12A2	EDARADD	ANKRD11	RIPK4	HTT	UBR7	KMT2E	GRIA4	HPDL	LRP6	RNF2	PAX9	KCNK9	BMP4	LMBRD2	TCF7L2	PUS7	DLX3	DNMT3A	SVBP	SYNCRIP	BLM	TUBGCP2	EP300	AGO2	WASF1	GJA1	NTNG1	TP63	SPTBN1	CNOT3	HUWE1	B3GLCT	GRIA3	PURA	EDA	KAT8	SETD1A	TRAPPC4	JARID2	SUMO1	GATAD2B	CDH1
HP_OLIGODONTIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OLIGODONTIA	MAF	SLC25A24	PTHLH	BCL11B	FZD2	RPS6KA3	SH3BP2	RHOA	CLDN1	PPP1R15B	WNT5A	PAX9	IRF6	FGFR1	TP63	AXIN2	KCNJ5	BCOR	EDARADD	ATP6V1B2	ANKRD11	CHSY1	PTH1R	TRMT10A	POLR3B	HNRNPK	PIK3C2A	KREMEN1	UBR1	TGFA	FLNA	NEPRO	MSX1	MAP3K7	WNT10A	SATB2	POLR3A	DVL3	KCNJ2	LRP6	SRCAP	CEP152	WNT10B	PORCN	SCUBE3	EDA	LTBP3	HUWE1	CCBE1	DVL1	SUMO1	POLR3GL
HP_DENTAL_CROWDING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DENTAL_CROWDING	MYH3	SPEN	RPL10	PLOD1	FLCN	CCDC28B	ROR2	IL6ST	DDR2	KIDINS220	CCDC47	TAB2	FRAS1	ZMPSTE24	TRIO	AMER1	SATB2	SET	TPM2	RPS6KA3	XYLT1	INSR	CREBBP	SCARF2	DSE	LOX	TECPR2	ATR	KCNJ2	GNAI3	NSDHL	TPM3	SCUBE3	COL1A2	CBS	EDN1	TRPS1	MADD	NONO	LMNA	TAF6	BBS1	SNX14	LGI4	SELENON	ITGA7	SMC1A	PCGF2	NOTCH3	COL3A1	EMC10	FREM2	PEX6	ARL6	DVL1	EP300	ZEB2	BMP2	SETBP1	KCNJ5	ATP6V1E1	EDNRA	MED12	BANF1	COL5A1	HACD1	SMS	OCRL	C12orf57	ASXL3	ABL1	PLCB4	KIF15	GJA1	SETD5	POLD1	SOX5	SHANK3	MGAT2	MYL2	IGF2	GNB2	NAA10	FGFR2	MAP3K20	H19	UPF3B	ZDHHC9	GRIP1	DHCR7	ACTA1	WNT5A	BCOR	FGFR1	TRIM37	IL1RAPL1	MASP1	SPECC1L	AMMECR1	PIGK	FBN1
HP_DELAYED_ERUPTION_OF_PRIMARY_TEETH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_ERUPTION_OF_PRIMARY_TEETH	ERCC6	EDNRA	IQSEC2	RUNX2	ERCC8	ERCC4	FLII	CTSK	FGFR3	FGFR2	DEAF1	FGF10	RAI1	LEMD2	ERCC1
HP_DELAYED_ERUPTION_OF_TEETH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_ERUPTION_OF_TEETH	EFL1	ZEB2	HDAC8	ARID2	ROR2	CLCN4	SFRP4	AXIN2	BCOR	TBC1D24	ZNF41	CTSK	GDI1	FTSJ1	FAM20A	UBR1	RUNX2	TGFB1	TGFA	ANTXR1	PRKAR1A	GNAS	MMP2	AMER1	WNT10A	ZMPSTE24	KCNH1	FGF10	SMARCA4	WNT10B	SEMA3E	EVC2	DMP1	OBSL1	IKBKG	SLC9A7	GLI1	VDR	SLC29A3	LMNA	CCBE1	CNKSR2	POLR3B	GHR	NSD1	ADAMTSL1	SMC3	ERCC1	FGFR2	TWIST2	STAT3	SOX4	SNX14	SLC37A4	TFAP2B	SMARCB1	ERCC8	SETD2	SMARCC2	DMD	ARHGEF6	EDNRA	CLCN7	OCRL	ARID1A	IQSEC2	ACSL4	SP7	DYNC2LI1	GJA1	POLR3A	SLC39A13	SYP	MIA3	NIPBL	MSX1	SETBP1	SOX11	TNFSF11	SUOX	SMARCE1	ZNF711	EVC	FGFR3	TONSL	NSUN2	ARID1B	CHD7	TSPAN7	GNB2	PDGFRB	SBDS	KCTD1	TCIRG1	DNAJC21	MED12	PORCN	ERCC4	GDF5	USP9X	RIC1	SMC1A	FLNA	ATP6V1B2	PDE4D	APC2	FGD1	IL1RAPL1	PIGF	ENPP1	CUL7	LONP1	KAT6B	RAD21	NPHS1	CYP27B1	IRF6	FGFR1	DPYD	EDARADD	FAT4	RECQL4	CYP2R1	ATP6V0A2	DPF2	TRIP11	LIG4	DLG3	ADAMTS3	CHST3	BRD4	MID2	SRP54	LRP6	EDA	SMARCD1	PIK3R1	RAI1	PAX9	ERCC6	FRMPD4	ARX	ANAPC1	ALG13	SEC24D	RAB39B	P4HB	STEEP1	ELMO2	TNFRSF11A	SNX10	PTHLH	SEC23A	FLII	PAPPA2	AGTR2	THRA	DEAF1	DVL1	ABCA5	TRPS1	FGF3	PTCH1	CCDC8	NAA10	UPF3B	RPS6KA3	IL11RA	CDH11	SLC13A5	SATB1	PTCHD1	MYSM1	USP27X	SH3PXD2B	LEMD2	IDS	STX16	ZNF81	WNT5A	PAK3	MECP2	EDA2R	ACP5	IGF1	TRIO	AMMECR1	SUMO1	HCFC1	KCNJ2
HP_HYPOPLASIA_OF_TEETH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_TEETH	PEX1	COL7A1	AIRE	PLEC	RUNX2	KRT14	LONP1	EDAR	GNAS	ODAPH	CYP27B1	DLX3	IRF6	FGFR1	FLNB	AXIN2	ENPP1	EDARADD	NECTIN4	ERCC8	CTSK	RECQL4	CLDN1	LAMA3	KRT5	CYP2R1	SMARCA2	ITGA6	TGFA	ZMPSTE24	LAMC2	ERCC3	MPLKIP	LAMB3	DDX59	DNAJC21	OFD1	WNT10A	ACP4	MMP1	GALNT3	ATR	LRP6	COL17A1	FGF10	WNT10B	ROGDI	PAX9	RNF113A	ERCC6	GRHL2	GTF2E2	SCUBE3	FGFR3	VDR	ITGB6	NEK1	KIF7	ERCC1	ALDH3A2	IFT122	NUP133	SLC12A2	SLC35A2	SEC23A	HLA-DQA1	RHOA	ERCC4	PPP1R15B	ITGB4	FGFR2	COG6	TTC7A	TRMT10A	LMNA	C12orf57	NF1	PIK3C2A	FAM20C	GJA1	HLA-DQB1	AMELX	MSX1	EP300	PGAP1	LMX1B	GTF2H5	TARS1	SATB1	GNB2	IFT43	IFIH1	UBR1	PORCN	EDA	STX16	PCNT	CSTB	ERCC2	CREBBP	SMCHD1	TRIM37	AMBN	SUMO1	KCNJ2	OCRL
HP_WIDELY_SPACED_TEETH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDELY_SPACED_TEETH	UBE3A	AFF3	ZEB2	HDAC8	KDM6A	RAD21	BCAS3	GALNS	PRKD1	HK1	DYRK1A	IRF6	AIP	NIPBL	CDC42	FGFR1	AXIN2	CCDC47	TBCD	TBC1D24	EDARADD	MAN2B1	NECTIN4	ERCC8	LARP7	KDM1A	SMARCA2	RDH11	TGFA	SSR4	CHST3	PRR12	OCA2	BRD4	WNT10A	ACP4	RNF113A	TP63	CDK19	LRP6	KANSL1	PTPRF	WNT10B	PAX9	CERT1	GPR101	EIF2S3	NONO	CDH3	SIN3A	SMC3	TBX4	ADNP	ERCC1	DLX3	IFT122	WDR26	FGF3	SMC1A	KATNB1	TBL1XR1	PCGF2	MED13L	PIGL	AIMP2	WDR35	DPH1	PPP1CB	SHANK3	KMT2D	MECP2	SETD1A	PIGS	TCF4	MED27	MBD5	TANC2	GUSB	MSX1	IFT140	PIGA	B3GLCT	SATB1	ERCC6	IFT43	ZSWIM6	NARS1	GLB1	EDA	IDS	IFT52	ERCC4	MAPK1	KIAA0753	RPS6KA3	LTBP3	SNRPN	ACVR1	SUMO1	ATP6V1B2
HP_DENTAL_MALOCCLUSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DENTAL_MALOCCLUSION	MLXIPL	PLEKHM1	DCHS1	PYROXD1	FGFR3	FLCN	BRAF	DPM2	KDM6A	GPC3	GNAS	IRF6	CDC42	FGFR1	ELN	AXIN2	TMEM270	GTF2I	DSPP	NCF1	EDARADD	HSPG2	RFC2	CTSK	LIMK1	TCIRG1	PAX1	SOS1	EIF4H	DLX4	RDH11	FRAS1	CHRNE	KLK4	TGFA	AMER1	PRKAR1A	SATB2	GPC4	FKBP6	CREBBP	STX1A	IRX5	WNT10A	PCYT1A	ATR	LRP6	PIK3R1	BAZ1B	GNAI3	WNT10B	GLI2	PAX9	HNRNPK	BMP4	ERCC6	OBSL1	DLG1	NOTCH2	EDN1	FLNA	GPR68	SH3BP2	BUD23	FGFR2	SMAD3	DNAJC30	DVL3	ITGB6	THOC6	FAM83H	ASPH	GTF2IRD2	ENAM	KCNH1	PCGF2	GFPT1	CLCN7	LRP5	RHOA	ERCC8	VPS37D	FREM2	PTPN11	NECTIN1	EP300	SHANK3	BMP2	MAP2K1	BCL7B	ARHGAP29	SKI	TRPS1	BANF1	MYOD1	RELT	BRCA1	SMARCA2	KCNN3	MMP20	SLC39A13	PLCB4	GJA1	AMELX	MSX1	SOST	CDH11	BRF1	CA2	PORCN	EDA	METTL27	TP63	GRIP1	TBL2	CLIP2	TSPAN7	AGO2	SH3PXD2B	SMCHD1	GTF2IRD1	ATP6V1B2	RPS6KA3	TRIM37	FAT4	DVL1	ACP5	BCOR	SUMO1	CDH1
HP_MICRODONTIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICRODONTIA	SMC3	EDARADD	MLXIPL	MSX1	PIGF	B3GALT6	KDM6A	IFT122	TWIST2	PRKD1	SNRPN	PAX9	IRF6	FGFR1	TP63	ELN	AXIN2	CCDC47	TMEM270	GTF2I	NCF1	CTCF	PITX2	ATP6V1B2	CHSY1	RFC2	WHRN	SMARCAL1	RECQL4	LIMK1	ATP6V0A2	NECTIN1	EIF4H	SMARCA2	UBR1	WNT10B	RBBP8	TGFA	B3GAT3	SATB2	CHST3	FKBP6	STX1A	DNAJC21	WNT10A	PIGL	P4HB	LRP6	EDA	MCOLN1	SRCAP	BAZ1B	COL3A1	EVC2	HS2ST1	GLI1	BUD23	FGFR3	ANAPC1	NHP2	MYO7A	REV3L	IDUA	CDH3	DNAJC30	ADGRV1	GHR	TFAP2A	PCNT	DLX3	SLC25A24	ORC1	UBE3B	FGF3	GTF2IRD2	BCL11B	NOP10	SMOC2	SEC23A	PCGF2	SIX1	RHOA	VPS37D	WDR35	CACNA1C	WDR4	FGFR2	BCL7B	KMT2D	TRPS1	FOXC1	HEPHL1	FGF10	IFT52	EDAR	PIK3R1	CKAP2L	DYNC2LI1	EYA1	PIK3C2A	FAM20C	KAT6B	AMELX	GJA1	IFT140	PIGA	EVC	TONSL	MAPRE2	ARID1B	WDR19	PLXND1	USH2A	METTL27	TBL2	CLIP2	MAPK1	KIAA0753	GTF2IRD1	C1S	LTBP3	TMCO1	LAMB3	EDA2R	DPF2	PDZD7	C1R	SUMO1	IFT43
HP_TOOTH_MALPOSITION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TOOTH_MALPOSITION	UBE3A	OFD1	RPL10	ZEB2	PYROXD1	FLCN	CCDC28B	BRAF	MGAT2	HK1	DPM2	GPC3	FREM1	CDC42	IL6ST	KIDINS220	AXIN2	GTF2I	TBCD	BCOR	DSPP	NCF1	HSPG2	LARP7	CHSY1	ROR2	ANKH	KDM1A	TCIRG1	SOS1	EIF4H	RUNX2	POLR1C	ZMPSTE24	TRIO	AMER1	EXOSC5	SATB2	GPC4	SET	RPS6KA3	WNT10A	DSE	LOX	TECPR2	TWIST1	NHS	KANSL1	WNT10B	SOBP	PACS1	NSDHL	OBSL1	DLG1	COL1A2	GPR101	EDN1	EIF2S3	GPR68	MADD	DOCK7	LMNA	CDH3	SMAD3	FRAS1	DVL3	THOC6	SMC3	TBX4	FAM83H	ITGA7	SMC1A	KATNB1	ENAM	CA2	SNX14	AIMP2	FREM2	WDR35	POLR1D	NECTIN1	SHANK3	SETBP1	BCL7B	SKI	COL5A1	MYOD1	BRCA1	TCF4	FGF3	ABL1	KCNN3	MED12	WDR26	NIPBL	MSX1	POLD1	IFT140	SOX5	HMGB3	BRF1	ATRX	SMS	IGF2	IFT43	ZSWIM6	IRF6	NARS1	MAP3K20	NXN	RAB3GAP1	ZDHHC9	METTL27	MAP3K7	IFT52	DHCR7	CREBBP	ACTA1	RAB3GAP2	FGFR1	FAT4	DVL1	TBL1XR1	FLNA	ATP6V1B2	SPEN	KDM6A	RAD21	POLR2A	GALNS	PRKD1	GNAS	ELN	DDR2	SMCHD1	MAN2B1	ERCC8	RFC2	SMARCA2	SMARCD2	UBE3B	FGFR2	PRR12	TPM2	OCA2	FKBP6	BRD4	TAB2	IRX5	RNF113A	CDK19	ATR	KCNJ2	PIK3R1	GLI2	PAX9	ERCC6	SH3BP2	BUD23	NONO	DNAJC30	TCOF1	ACTL6B	DLX3	LGI4	DNMT3A	KCNH1	GFPT1	EMC10	PIGL	VPS37D	RAI1	TUBGCP2	WNT5A	PPP1CB	EP300	RELT	HACD1	CBS	MED27	GNAI3	MMP20	RDH11	B3GLCT	ASXL3	PSMD12	SATB1	H19	HNRNPK	EDA	GRIP1	KIAA0753	AGO2	LTBP3	KCNMA1	SNRPN	AEBP1	ACP5	PORCN	ACVR1	STAG1	AMMECR1	SUMO1	PIGK	FBN1	GATAD2B	NOTCH3	MLXIPL	PLEKHM1	HDAC8	PLOD1	BCAS3	XRCC4	AIP	TBC1D24	CTSK	LIMK1	CNOT2	CHRNE	KLK4	TGFA	PRKAR1A	XYLT1	INSR	TP63	PTPRF	CERT1	ALKBH8	TPM3	SCUBE3	NOTCH2	TRPS1	ALX3	TAF6	ITGB6	BBS1	ADNP	ERCC1	ASPH	FZD2	COL3A1	CLCN7	LRP5	PEX6	ARL6	BMP2	ARHGAP29	ATP6V1E1	EDNRA	MECP2	OCRL	PIGS	EYA1	TANC2	SLC39A13	PLCB4	GUSB	KIF15	AMELX	SETD5	SOST	MYL2	GNB2	NAA10	GLB1	UPF3B	TBL2	ERCC4	MAPK1	TSPAN7	IFT57	TRIM37	IL1RAPL1	MASP1	RIC1	PRKACA	PDE4D	MYH3	AFF3	DCHS1	FGFR3	ADAMTS10	DYRK1A	CCDC47	TMEM270	EDARADD	NECTIN4	ANKRD11	BPTF	PAX1	DLX4	SSR4	CHST3	KDM5C	STX1A	ACP4	SCARF2	PCYT1A	LRP6	BAZ1B	RNF2	BMP4	PTEN	ADAMTS2	POLR1B	USP9X	LBR	CUL4B	SIN3A	IFT122	SELENON	GTF2IRD2	PCGF2	MED13L	SIX1	RHOA	PTPN11	DPH1	SPART	MAP2K1	KCNJ5	KMT2D	BANF1	SETD1A	C12orf57	MBD5	GJA1	PIGA	CDH11	PTH1R	IDS	CLIP2	SH3PXD2B	GTF2IRD1	SPECC1L	CDH1
HP_NATAL_TOOTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NATAL_TOOTH	EVC	FGFR2	INTU	EHMT1	BCL11B	DSP	CREBBP	ZMPSTE24	LMNA	KRT17	GLI3	KRT6A	KDM6A	EP300	MKS1	KMT2C	CEP120	C2CD3	EVC2	FLNA	CILK1	JUP	SPECC1L	FAM20C	KRT16	NEK1	KDF1	POLR3A	AMER1	PTH1R	KRT6B	MID1
HP_DELAYED_ERUPTION_OF_PERMANENT_TEETH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_ERUPTION_OF_PERMANENT_TEETH	APC2	MSX1	RUNX2	SMARCB1	PIGF	SLC37A4	WNT10A	TFAP2B	TONSL	ROR2	LRP6	NPHS1	CTSK	SETD2	IRF6	WNT10B	FGFR1	PAX9	AXIN2	TBC1D24	EDA	EDARADD	FAM20A	NSD1	GJA1	TGFA	ADAMTSL1	SUMO1	ATP6V1B2	KCNJ2	MIA3
HP_CONICAL_TOOTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONICAL_TOOTH	FGF3	TP63	PRKACB	EDA	ALX4	CTNND1	RHOA	NECTIN1	IRF6	FGFR1	ATP6V1B2	AXIN2	EVC	ARHGAP29	DHODH	EDARADD	NECTIN4	MSX1	WNT10A	DYNC2LI1	ATP6V0A2	DLX4	FGFR2	SMARCD2	TGFA	NFKBIA	IKBKG	CDH1	FGFR3	TSPEAR	LRP6	RUSC2	B3GLCT	ARID1B	FGF10	WNT10B	PAX9	EVC2	BMP4	DLG1	GLI1	CCBE1	SATB2	NEK1	ANAPC1	PRKACA	SUMO1
HP_DIASTEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIASTEMA	UBE3B	RDH11	KDM5C	DNMT3A	PACS1	HMGB3	ATRX	MGAT2	NHS	TUBGCP2	FREM1	RNF2	STAG1	ANKRD11	CHSY1	IFT57	ALX3	KCNMA1	PRKACA	ACTL6B	GATAD2B
HP_PERIODONTITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIODONTITIS	CXCR4	DKC1	CTSC	PLG	SLC37A4	GFI1	TINF2	NOP10	WRAP53	COL3A1	NPM1	TERT	CTC1	C1S	FERMT1	C1R	USB1	CAT	SLC35C1	FGF3	GORAB	AP3B1	LYST	NOTCH2	OCRL	TERC	NHP2	ELANE	PARN	SRP54	ITGB2	AEBP1	TCIRG1	RTEL1	MIA3
HP_AMELOGENESIS_IMPERFECTA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMELOGENESIS_IMPERFECTA	PEX1	ENAM	AMELX	FAM83H	DNAJC21	SLC13A5	ACP4	SATB1	WDR72	TMEM165	ODAPH	AMTN	CNNM4	DLX3	ORAI1	ROGDI	SLC10A7	FAM20A	RELT	CLDN19	GPR68	LAMA3	LTBP3	STIM1	LAMB3	ITGB6	SMARCD2	KLK4	AMBN	MMP20	SLC24A4
HP_ERUPTION_FAILURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERUPTION_FAILURE	HOXD13	FGFR1	TCF4	MAP3K7	FLNA	CDH11	PTH1R	SH3BP2	ZMPSTE24	APC	LMNA	IFIH1	TRIO	ANTXR1	LEMD2	FLNB	SMCHD1
HP_PSYCHOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSYCHOSIS	CTLA4	PARK7	MT-ND6	FCGR2A	MECP2	CPOX	TREM2	CACNA1A	RPS6KA3	SLC6A19	NHLRC1	NDN	ABCD1	VPS13A	GRN	CLN3	SNRPN	FCGR2B	PDE8B	CHMP2B	DCAF17	MT-TS2	MT-TW	NAGS	OCA2	MTHFR	CRH	SLC25A13	C9orf72	SIM1	CHRNA2	PDGFB	MT-TH	SPP1	MYORG	SRCAP	GSS	KCNT1	CABP4	ACADS	MAPT	USP8	SOBP	SLC20A2	MT-CO1	PCDH19	ATP13A2	CBS	ZFYVE26	DEPDC5	IRAK1	MT-ND1	MAGEL2	FTL	MT-ND5	TREX1	HMBS	PANK2	SLC12A6	FAR1	PAH	GCLC	STAT4	CHRNA4	PRKAR1A	PDE11A	FRRS1L	PUS3	TMEM106B	WFS1	CDH23	TWNK	HERC2	ITM2B	PITRM1	PSEN1	SPART	MT-TF	NPC1	DNASE1	NDP	EPM2A	VCP	PWRN1	SPG11	PRDM8	PRNP	MMACHC	MKRN3	SNORD115-1	AIP	TBC1D7	MED12	MT-CO3	SLC7A7	ZMYM2	PRKACA	FUZ	CHRNB2	ARMC5	MT-CO2	PDGFRB	PTPN22	ALDH5A1	HFE	GNAS	PAK3	ALDH18A1	MT-TL1	SQSTM1	UPF3B	ZDHHC9	NPAP1	ATXN7	NPC2	MT-ND4	ALDH4A1	DNMT1	SNORD116-1	TTC19	PWAR1	FIG4	MT-TQ	GRIN2A	PPOX
HP_HYPERORALITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERORALITY	ATP10A	PSEN1	C9orf72	MAPT	TREM2	UBE3A	VCP	CHMP2B	TMEM106B	GRN	SNRPN	DCTN1	SHANK3	SQSTM1
HP_RESTLESSNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESTLESSNESS	CFAP410	MECP2	SNCA	TREM2	PSEN2	CACNA1A	HSD17B10	PRPH	PRKN	PRNP	TMEM67	BRAT1	TSEN54	KCNJ11	HMBS	HTT	VCP	GRN	ABCA7	PARK7	TAF15	TSHR	PON1	SOD1	AFF2	CHMP2B	PINK1	ATXN2	OPTN	VPS13C	GABBR2	ABCC8	ACAT1	CLCN3	SATB2	NAGS	KDM5C	GLT8D1	SLC25A13	C9orf72	ZBTB20	UCP2	PON3	GLE1	FIG4	GBA	SRCAP	MAPT	CYP27A1	RNF13	SLC19A3	LRRK2	DCX	HNRNPA1	EIF2S3	CDKL5	LSS	NEK1	PON2	DNAJC13	APP	NDST1	NGLY1	DEAF1	PFN1	SLC2A3	PPARGC1A	FUS	CHCHD10	PSEN1	PLPBP	SLC13A5	MED13L	TMEM106B	GIGYF2	HTRA2	ECE1	KIF11	PDE11A	ALAD	NTNG1	HNF1A	IGF1R	PTS	TOMM40	SPTBN1	EIF4G1	VPS35	NEFH	WAC	TBK1	SYNJ1	ANXA11	CCNF	DNAJC6	EPHA4	DCTN1	PODXL	SUOX	ANG	SMC1A	SATB1	AMT	DAO	PRKAR1A	UCHL1	UNC13A	GNAS	PAK3	SQSTM1	COX10	HNF4A	VAPB	CLN8	ALDH7A1	SORL1	ADA2	ERBB4	TARDBP	GLDC	UBQLN2	SPAST	DCDC2	GCSH	MATR3
HP_EMOTIONAL_LABILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMOTIONAL_LABILITY	CFAP410	EIF2B1	EIF2B4	TARDBP	MECP2	POLG	PRPH	SLC6A19	NDUFAF6	NDUFV2	NDUFA13	VPS13A	VCP	LEPR	NDUFA4	TAF15	NDUFS3	TREM2	SLC6A17	PON1	SOD1	ATP1A3	GABRG2	PDE8B	SDHA	ARSA	ATXN2	OPTN	NDUFA9	CTSF	EIF2B5	NDUFAF5	PRNP	LAS1L	BAP1	SATB2	NAGS	NDUFA10	NHLRC1	MIR17HG	GLT8D1	NDUFAF2	CREBBP	NDUFS2	SLC39A4	PON3	SMARCE1	CHMP2B	GLE1	FIG4	NF2	LIPT1	FOXRED1	PDCD1	SURF1	CLCNKB	MTFMT	USP8	C19orf12	TRAF7	SMO	HNRNPA1	RNF168	FTL	NEK1	PON2	NDUFA12	PANK2	NDUFV1	AKT1	PLA2G6	TACO1	HTRA1	CLTRN	EIF2B2	PFN1	PRKAR1A	HDAC8	PSAP	PPARGC1A	GALC	FUS	MTPAP	PDE11A	CHCHD10	HLA-DRB1	ATP1A2	CASR	CDH23	GRIN2A	ELP1	EP300	SPART	EPM2A	C9orf72	NDUFS4	PET100	SPTBN1	SPG11	TUBB3	NOTCH3	SMARCB1	DDC	NEFH	PRKACA	TBK1	NDUFS7	B4GALNT1	CACNA1A	SLC1A3	ANXA11	PDHA1	BSND	AIP	CCNF	NTRK1	FUZ	GNA11	SUFU	EPHA4	FMO3	MED12	DCTN1	ARMC5	ANG	NDUFA2	DAO	NDUFS1	ECHS1	SCN8A	UNC13A	GNAS	SQSTM1	EIF2B3	TERT	PDGFB	VAPB	HLA-DQB1	BCS1L	PGK1	SLC19A3	SRPX2	ERBB4	COX15	UBQLN2	SARDH	CLCNKA	MATR3	PIK3CA	NDUFS8
HP_AGITATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGITATION	CFAP410	SNCA	PSEN2	CACNA1A	PRPH	PRKN	TMEM67	BRAT1	KCNJ11	HTT	VCP	ABCA7	PARK7	TAF15	TSHR	TREM2	PON1	SOD1	AFF2	HSD17B10	PINK1	ATXN2	OPTN	VPS13C	GABBR2	ABCC8	ACAT1	NAGS	GLT8D1	UCP2	PON3	CHMP2B	GLE1	FIG4	GBA	GRN	CYP27A1	LRRK2	DCX	HNRNPA1	EIF2S3	CDKL5	LSS	NEK1	PON2	DNAJC13	APP	NDST1	DEAF1	PFN1	SLC2A3	PPARGC1A	FUS	CHCHD10	PSEN1	MED13L	GIGYF2	HTRA2	ECE1	KIF11	PDE11A	ALAD	NTNG1	HNF1A	C9orf72	IGF1R	PTS	TOMM40	SPTBN1	EIF4G1	VPS35	NEFH	WAC	TBK1	SYNJ1	ANXA11	CCNF	MECP2	DNAJC6	EPHA4	DCTN1	PODXL	SUOX	ANG	SMC1A	SATB1	DAO	PRKAR1A	UCHL1	UNC13A	GNAS	PAK3	SQSTM1	COX10	HNF4A	VAPB	SORL1	ADA2	ERBB4	TARDBP	UBQLN2	SPAST	DCDC2	MATR3
HP_DEPRESSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEPRESSION	COMT	DCPS	DRD2	NCDN	CDKN2B	SHH	PARK7	SDHA	GTF2I	NCF1	CHCHD10	TGIF1	PDE8B	VCP	TBP	EIF4H	TCF4	CDKN1A	PRNP	NHLRC1	MSTO1	CHRNA2	MT-TL2	MT-TN	TWNK	MT-TH	HTT	CDON	FOXH1	FGF8	CHD7	USP8	FGFR1	MT-CO1	C19orf12	KCNT1	MT-ND1	GALT	POLG	CRKL	TREX1	MYO7A	C12orf4	PAH	DUSP6	TDGF1	CC2D1A	GNRHR	SQSTM1	TSC1	JRK	WFS1	CASR	CDH23	FMN2	RPS20	DNMT1	STIL	BCL7B	PDGFB	MT-TF	SIX3	SPTBN1	NOTCH3	AMACR	TBK1	PLA2G6	PDGFRB	HNMT	MAPT	TBC1D7	GABRB3	PTCH1	PRKACA	DNAJC6	SLC25A4	NSMF	EPCAM	ZIC2	DCTN1	PODXL	ARMC5	MT-CO2	POLG2	HARS1	CPOX	TUSC3	DISP1	XK	MT-TL1	LMAN2L	PER3	USH2A	METTL27	NSUN2	GRN	LRRK2	SNCA	MATR3	KCTD17	SLC6A4	PTPN22	PRKN	TACR3	CLIP1	EHMT1	ELN	MLH3	TBX1	GLUD2	FMR1	PON1	AP2S1	SOD1	TGFBR2	RFC2	WASHC4	PGAP1	ATXN2	VPS13C	MSH2	KRAS	FKBP6	CSF1R	PON3	PPT1	COQ2	GBA	PDCD1	NAA20	FA2H	CABP4	TSC2	FUS	TECR	GAS1	FBXO31	PER2	BUD23	NEK1	PANK2	TK2	HMBS	DNAJC30	FGF14	PPP2R2B	DLL1	PRKAR1A	SLC2A3	PPARGC1A	VPS13A	NR4A2	PRSS12	AFG3L2	NODAL	KISS1R	ARSA	GNAS	ABCB11	GIGYF2	VPS37D	ATRX	GRIN2A	DNA2	C9orf72	ATP13A2	PTS	TOR1A	METTL23	ST3GAL3	STUB1	BMPR1A	CBS	EIF4G1	MT-TS2	ANXA11	FAN1	ATP1A3	EDC3	CCNF	DGUOK	MED23	KISS1	TAC3	ATP8B1	ANG	PSAP	FLT4	CLCN4	STX16	GLA	VAPB	MT-ND4	CACNA1G	GP1BB	BCS1L	SRPX2	ERBB4	UBQLN2	SPAST	KCNJ2	MLXIPL	MT-ND6	PRPH	SLC2A1	IRF4	FGF17	CEP85L	MED25	AIP	RRM2B	TSHB	PIGC	HLA-B	TREM2	LGI1	ZC3H14	GABRG2	CHMP2B	STAG2	GDAP2	PINK1	LIMK1	SPRY4	OPTN	DEPDC5	GSN	MT-TW	NR1H4	TRAPPC9	GCH1	SARS1	SLC7A6OS	ABCA7	GLE1	FIG4	IDUA	MLH1	CYP27A1	SLC20A2	ARVCF	WDR11	GLI2	SNCAIP	UFD1	MAMLD1	DNAJC13	ADGRV1	PFN1	IQSEC1	HLA-DQB1	HLA-DQA1	HIRA	ATXN8OS	ATXN10	ALAD	EPM2A	FRRS1L	CACNA1H	TET3	SMC1A	MECP2	AOPEP	OCRL	SEMA4A	MBOAT7	MT-CO3	COL7A1	GNA11	EPHA4	P4HA2	SGCE	CRBN	GABRA1	GRM7	TTC5	PMS2	DAO	MAPK1	LINS1	PROKR2	TMEM106B	SEC24C	TBL2	PIK3CA	ALDH4A1	UBE4A	TTC19	EZR	AP1G1	MAN2B1	CFAP410	ARSG	RSRC1	TNIK	RPS6KA3	SMPD1	THOC2	ABCB4	MT-TT	TARDBP	TAF15	TMEM270	WHRN	SEMA4D	CTSF	XPR1	JPH3	CRH	GLT8D1	PMS1	UFSP2	STX1A	NDST1	COASY	CISD2	CDKN1B	BAZ1B	MMP1	SLC12A2	UQCRC1	SLC18A2	AARS2	HNRNPA1	HS6ST1	LMNB1	MT-ND5	PON2	GNRH1	USH1C	CEP78	CHRNA4	GPR101	JMJD1C	RELN	PROK2	BCR	SLC45A1	GTF2IRD2	AR	PDE11A	HLA-DRB1	B3GALNT2	PSEN1	CIB2	KDM5B	ADH1C	ATP7B	MSH6	GRIK2	HTRA2	FMO3	TRHR	MEN1	CRADD	GPR35	MST1	ALKBH8	AIMP1	VPS35	NEFH	SYNJ1	USH1G	MAN1B1	CHRNB2	ESPN	DNAJC5	CARS1	CLRN1	UCHL1	UNC13A	PCDH15	RREB1	CDKN2C	CLIP2	PRKCG	CLN6	GTF2IRD1	NEMF	MT-TQ	PDZD7	HTR2A
HP_AUTISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AUTISM	SMAD4	MLXIPL	COMT	HDAC8	FLCN	NDN	TBR1	ALG14	GTF2I	SNRPN	NCF1	SCN3A	LIMK1	PTCHD1	TSC2	YY1	EIF4H	HDAC4	NTRK2	PRKAR1A	NFIB	AHDC1	SZT2	NIPA1	TBX1	FMR1	TCF12	MAN1B1	PRKCZ	TUBG1	NUS1	GABRA2	NHS	UBE4B	CYP27A1	RPL10	FTSJ1	SEMA3E	SCN8A	ARVCF	TSC1	MECP2	GRIA3	UFD1	HESX1	ATP1A3	CDK19	YWHAG	DPAGT1	CNTNAP2	TMLHE	SMC3	PTEN	DEAF1	ARV1	EHMT1	NONO	KDM5C	SDHD	TBCK	HIRA	CHRNA7	KCNAB2	CACNA1C	SDHC	ALAD	ATP1A2	SHANK3	MED13L	BCL7B	SLC35C1	CACNA1A	FGFR1	KCNB1	HCN1	NDP	SPTBN1	SYNJ1	MKRN3	MMP23B	SOX3	UBA5	PDPN	MAGEL2	MED12	NLGN3	DYRK1A	OCA2	PRDM16	CHD7	CACNA1B	GABRA5	NAGA	IFNG	PROKR2	SEC24C	METTL27	TBL2	NPAP1	AKT1	DHCR7	GABRB2	CREBBP	GRIN2D	PWAR1	IL1RAPL1	IQSEC2	STS	PAH	SMC1A	USF3	GJA8	WWOX	SEC23B	ARNT2	HSPG2	DPYD	GATM	SYNGAP1	CHD8	SPEN	RAD21	RERE	SOX2	NIPBL	ELN	ALG13	CELF2	TMEM270	SLC1A2	EEF1A2	RFC2	KCNA2	AARS1	NLGN4X	PPP3CA	GAMT	FKBP6	EXT2	ZBTB20	BRD4	STX1A	SATB2	ATP6V1A	NIPA2	PIGL	ACTL6B	BAZ1B	TRAK1	GABRG2	PDE4D	MEIS2	HNF1B	LHX1	CASZ1	KLLN	BUD23	REV3L	SLC9A6	DNAJC30	SIN3A	JMJD1C	MAOA	GTF2IRD2	CYFIP2	AUTS2	SH2B1	VPS37D	ATRX	RAI1	HERC2	SLC13A5	FGF12	DNM1	TAOK1	UBE3A	LUZP1	PWRN1	ASXL3	FGF13	SNORD115-1	ADSL	CNKSR2	PARS2	OTX2	WFS1	GJA5	EP300	ANKRD11	BCKDK	PIK3CA	NECAP1	CLTC	SATB1	GABRD	SKI	ALDH5A1	FTCD	DHDDS	PLXND1	SDHB	RREB1	CLIP2	GP1BB	SNORD116-1	GTF2IRD1	AP3B2	DALRD3
HP_AGGRESSIVE_BEHAVIOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGGRESSIVE_BEHAVIOR	PRODH	MYT1L	TREM2	PRNP	ECM1	TMEM67	KDM4B	ARID2	CACNA1A	TTI2	VPS13A	MGAT2	CEP85L	INPP5E	GRN	FRMPD4	KCNQ3	ALG14	AP1S2	SLC6A17	ENTPD1	HERC2	ABCA2	FBXW11	AFF2	TYROBP	CHMP2B	WDR45	DGCR6	PTCHD1	CLCN2	TBP	SUCLG1	TRIP12	NFIB	TRIO	SATB2	ZMIZ1	SYN1	UROC1	MAB21L1	C9orf72	ODC1	GRIK2	MAN1B1	DDX3X	WARS2	HTT	CILK1	SMARCA4	HDAC4	MAPT	CYP27A1	FTSJ1	PACS1	NSDHL	ATP13A2	GRIA3	NEXMIF	USP7	CREBBP	EIF2S3	CUL4B	ELP2	GABRB3	DPAGT1	FOXP1	UBTF	CNTNAP2	NSD1	PAH	C12orf4	CTNNB1	LINGO1	DEAF1	EHMT1	NONO	KDM5C	WAC	TIMM50	TSC1	USP9X	SOX4	UBE4A	NAGLU	METTL5	PUS3	SMARCB1	IQSEC1	SETD2	SMARCC2	SHANK3	ATP1A3	ARID1A	SPTBN1	TCF4	PLA2G6	EEF1A2	TCF20	ADAT3	NDP	EBP	TBX1	SOX11	UQCC2	MED12	SOX5	MED25	SMARCE1	AMT	LEPR	GABRD	ARID1B	POGZ	NAA10	PCDH19	SARS1	TMEM240	IQSEC2	SQSTM1	HDC	DHCR7	MAPK1	BCOR	ALDH4A1	TTC19	AP1G1	GLDC	FIG4	ESS2	PDE2A	DCDC2	CAMTA1	SASS6	SPR	GCSH	CACNB4	APC2	SPEN	ADNP	DYNC1I2	CHD2	TMEM231	KMT2E	SLC2A1	DYRK1A	DPYD	SCN1A	NAGS	VPS16	BPTF	HSD17B10	PPP2R5D	KMT2A	DPF2	CLN5	SLC52A2	STEEP1	SLC25A13	GAMT	RORB	ZBTB20	PIGY	RUSC2	SMARCD1	SRCAP	KCNT1	IMPA1	TSC2	JRK	DGCR2	FMR1	RBBP8	UBE2A	ANK3	FGF14	GABRA1	NDST1	SIN3A	NFASC	HTRA1	CEP152	PHIP	SLC2A3	MAOA	DNMT3A	FRRS1L	HNRNPH2	PIGH	MED13L	SMARCA2	ATP1A2	TMEM106B	EFHC1	ATP7B	GRIN2A	KIF11	BCAP31	EP300	PSEN1	SLC6A8	NKAP	CLCN4	HEPHL1	MED12L	VCP	SETD1A	CUX2	MBD5	LINS1	TFE3	SLC1A3	ADSL	MECP2	FMO3	TMEM222	SHMT2	KDM3B	PSMD12	RLIM	DNM1	ALDH5A1	DPYSL5	PUS7	ZMYND11	WDR62	KNL1	PAK3	DGCR8	SH2B1	MAPK10	AGO2	PRRT2	ATXN10	NBEA	SPAST	PYCR2	OCRL	SLITRK1	MANBA
HP_INAPPROPRIATE_BEHAVIOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INAPPROPRIATE_BEHAVIOR	CDKL5	TBC1D2B	VPS13A	PRKAR1B	MAPT	TREM2	HSD17B10	TMEM106B	ATP7B	NOVA2	KANSL1	GRN	GNAS	PSEN1	NTNG1	SLC6A17	GALC	TYROBP	VCP	UBE3A	GATAD2B	CHMP2B	PIGS	PSAP	ADSL	KIF15	PHGDH	ATP10A	GM2A	OCA2	C9orf72	IQSEC2	PGAP1	FOXG1	DYRK1A	GRIK2	PSAT1	SMC1A	ATRX	NTNG2	SNRPN	DCTN1	SQSTM1	ALG9	SLC19A3	GABBR2	SLC18A2	SLC9A6	PDE2A	MECP2	GLI3	MBD5
HP_MOOD_SWINGS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOOD_SWINGS	DEAF1	TBX1	ZFYVE26	BPTF	GRIK2	PSMD12	CUL4B	DGCR6	ESS2	DGCR8	DGCR2
HP_OBSESSIVE_COMPULSIVE_BEHAVIOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OBSESSIVE_COMPULSIVE_BEHAVIOR	SLC6A4	DMPK	MLXIPL	GABRG2	ADNP	TREM2	DRD2	HDAC8	SCN1A	KDM4B	RAD21	SNRPN	GRN	NIPBL	TRRAP	ELN	TKT	TMEM270	GTF2I	USP7	FMR1	NCF1	VPS16	AFF2	RFC2	PCDH19	CHMP2B	GABRA1	LIMK1	EIF4H	HDAC4	CLN5	TRIO	OCA2	GCH1	C9orf72	FKBP6	NDN	BRD4	SCN9A	CREBBP	STX1A	COASY	SIN3A	HTT	SRCAP	BAZ1B	MAPT	SEMA3E	SYNGAP1	HCN1	BUD23	CRKL	PANK2	UBE2A	FOXP1	DNAJC30	PAH	NR2F1	SMC3	NLGN1	ADGRV1	TLK2	EHMT1	SLC2A3	SCN1B	BCR	VPS13A	GTF2IRD2	USP9X	HNRNPH2	YWHAG	TMEM106B	VPS37D	SIN3B	PITRM1	GRIA2	EP300	PSEN1	BCL7B	SLC35C1	UBE3A	CLCN4	CLCN3	SCN2A	VCP	PPM1D	OCRL	KCTD17	SPTBN1	TCF20	NKX2-1	SETD5	FMO3	SGCE	MAGEL2	MED12	TBX1	STX1B	AUTS2	CARS1	POGZ	CHD7	ARID1B	MAPK1	GABRD	XK	SQSTM1	HDC	METTL27	TBL2	CLIP2	TOR1A	GTF2IRD1	TTC19	SLC45A1	AP1G1	DPF2	SLITRK1	MAP1B	SMC1A	HTR2A	GATAD2B
HP_RESTRICTIVE_BEHAVIOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESTRICTIVE_BEHAVIOR	NLGN4X	MECP2	C9orf72	GABBR2	NLGN3	TREM2	VCP	CDKL5	CHMP2B	SMC1A	SPTBN1	TMEM106B	SNRPN	GRN	PSEN1	MAPT	NTNG1	SQSTM1
HP_PSYCHOTIC_EPISODES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSYCHOTIC_EPISODES	ATP13A2	PRKAR1A	PRKACA	PARK7	PDE11A	PDE8B	ARMC5	CDH23	HMBS	PITRM1	NAGS	USP8	GNAS	MTHFR	SLC7A7
HP_DEMENTIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEMENTIA	MT-TW	MT-ND6	NOTCH2NLC	MAPT	TARDBP	TREM2	PSEN2	PRNP	OPA1	MT-TE	APP	ABCD1	VPS13A	VCP	HTRA1	DNM1L	GRN	ABCA7	PARK7	MT-TL1	MT-ND5	KCTD7	MT-TV	TIMM8A	CHCHD10	TYROBP	CHMP2B	PINK1	POLG	WDR45	MT-ATP6	SDHA	TBP	CYP27A1	CCNF	ATN1	APOE	WFS1	LIG3	NHLRC1	PSEN1	C9orf72	HNRNPA2B1	GBA	MT-TH	JPH3	DLAT	HFE	CUBN	ATP13A2	USP8	MT-CO1	C19orf12	LRRK2	ADA2	MT-ND1	ASAH1	SNCAIP	SNCB	FTL	DNAJC13	CSTB	FAR1	GBA2	GM2A	TRPM7	ATXN2	HLA-DQB1	SQSTM1	CDH23	ERCC8	SNCA	ATXN10	ATP6V1A	EPM2A	CP	APTX	MT-TF	TOMM40	DNMT1	NOTCH3	SERPINI1	TMEM106B	PLA2G6	PRDM8	SPG21	PPP2R2B	MMACHC	NDP	MT-CO3	UBQLN2	DNAJC6	ERCC4	PODXL	MT-CO2	SLC13A5	ATXN3	ATP7B	TYMP	TIA1	PANK2	NPC2	SORL1	ZFYVE26	NOS3	TUBB4A	SCARB2	ALDH18A1	ATXN8OS	FBXO7	CST3	PRKAR1B	PRKN	AUH	CISD2	MT-TT	CYLD	CLN3	GLUD2	FMR1	HTT	TWNK	CERS1	MT-TC	SDHB	MECP2	TREX1	VPS13C	PNPLA6	MT-TS2	CTSF	XPR1	PRDX1	GCDH	CLN8	CSF1R	TBK1	PDGFB	ROGDI	FUS	RRM2B	TUBA4A	DCTN1	AARS2	PLAU	ITM2B	MPO	MBTPS2	MT-CYB	GBE1	HNRNPA1	NR4A2	COL4A1	ADH1C	ARSA	GIGYF2	RAB39B	PRICKLE1	HTRA2	IRF6	MATR3	PDGFRB	ATP6V1E1	NPC1	LYST	SPG11	EIF4G1	VPS35	SYNJ1	HEXA	DGUOK	TTR	CFAP43	LMNB1	DNAJC5	PSAP	UCHL1	ATP6V0A2	SDHAF1	MT-TQ	MT-TK	RNF216	SDHD	MT-ND4	CLN6	SPAST	STARD7
HP_FRONTAL_LOBE_DEMENTIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRONTAL_LOBE_DEMENTIA	TYROBP	PSEN1	DNAJC6	CHCHD10	MAPT	CSF1R	PODXL	PRKN	PINK1	FTL	TREM2	VPS13C	TBP	SYNJ1	HTRA2	UCHL1	LRRK2	PARK7	SNCA
HP_AUTISTIC_BEHAVIOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AUTISTIC_BEHAVIOR	RERE	PRODH	ELN	NTNG2	MECP2	DCPS	CACNA1I	NALCN	NCDN	CLCN4	DLK1	NDN	SYNGAP1	SNRPN	GABRA1	RAB11B	PTCHD1	TSC2	CDH2	PHF21A	MED27	EIF4H	HDAC4	PIGW	TCF12	TUBG1	SRCAP	ERBB4	RSPRY1	MYT1L	RPL10	TSC1	EMC10	DOCK7	HESX1	TOGARAM1	NDUFAF3	RIMS2	CNTNAP2	SMC3	CC2D1A	ARV1	PTPN23	EHMT1	TRIP12	SDHD	SNX14	NAA10	SMARCB1	SBF2	FMN2	NDUFS8	SIN3B	POU3F3	SDHC	ATP1A2	SHANK3	MED13L	KMT2C	CLCN3	SCN2A	SLC2A1	SPTBN1	FBXW11	WDFY3	ALMS1	TCF20	NDUFB10	CHAMP1	UBA5	DEAF1	MAGEL2	KCNA1	PDE4D	ZNF711	RTL1	POLA1	ARID1B	GABRA5	CUX2	MEIS2	TUSC3	GABRD	BCORL1	RLIM	TIMMDC1	METTL27	NPAP1	AKT1	GALNT2	DHCR7	GABRB2	CREBBP	BCOR	NSUN2	USP9X	DYRK1A	HCN1	STS	LRRK2	USF3	OCA2	GRIN1	SLC35A3	ARNT2	SPEN	SYN1	PRKN	ZIC1	GATM	SCN1A	CHD8	GABRA2	RAD21	ATP1A3	NDUFA13	NDUFAF4	TBX1	SLC1A2	KCNA2	ARFGEF2	AARS1	VPS13C	SYT1	QRICH1	KMT2E	PPP3CA	RAB39B	NDUFS7	GAMT	FKBP6	BRD4	PIGL	HPDL	SRP54	SET	SMARCD1	SPATA5	ACTL6B	OTUD5	CDKL5	KLLN	BUD23	ANK3	DNAJC30	SCN9A	TCF7L2	NLGN1	PNKP	PUS7	TLK2	MFF	SETD1B	GFM1	SYNCRIP	SCN1B	VPS37D	GRIN2A	RAI1	EP300	PSEN1	SATB2	RARS1	AGO2	ST3GAL3	TCF4	RAB11A	TFE3	SNORD115-1	CNKSR2	MED23	PARS2	TMEM138	GJA5	IQSEC2	IARS1	PIK3CA	KDM3B	ZNFX1	NECAP1	SETD5	CLTC	USP27X	TAF1	PLXND1	GABBR2	KAT8	SETD1A	ZNF81	CDK8	KMT5B	SVBP	KDM6B	EFL1	NDUFB3	SUPT16H	HDAC8	ALDH18A1	RALA	KDM4B	TBR1	CACNA1A	MTOR	CEP85L	NOVA2	HERC2	KIF1A	CTCF	AFF2	FOXRED1	PCDH19	PINK1	CHD2	PSMD12	NIPA1	ZMIZ1	FMR1	TRAPPC9	FGF13	MAN1B1	JAM2	PRKCZ	DDX3X	UGP2	CYP27A1	SEMA3E	PHACTR1	TNPO2	TNRC6B	NEXMIF	NDUFAF2	UFD1	NAA15	LSS	GABRB3	CC2D2A	FOXP2	POMT1	DOLK	ZFPM2	PLA2G6	AP3B2	ADNP	PACS1	UBE4A	HIRA	KCNAB2	IREB2	PIGQ	ALAD	DMD	CIC	FRRS1L	NBEA	PIGS	ACSL4	ACTL6A	TANC2	ARX	NF1	HERC1	PDPN	NLGN3	TMEM126B	TSPAN7	LINS1	NPRL3	SQSTM1	MED12	SEC24C	HIVEP2	PSMC3	PIGG	EXT2	EZR	PAH	SLC12A2	HS2ST1	ANKRD17	APC2	AFF3	RSRC1	DLL1	HSPG2	IL1RAPL1	DPYD	SOX2	NDUFS3	CDH15	SATB1	NIPBL	NDUFB11	CELF2	ZNF423	USP7	KCNT1	GNB5	NDUFS4	PGAP3	CNOT3	CLN8	NIPA2	SIN3A	ALG13	BAZ1B	ADH5	GABRG2	LHX1	KPTN	SLC25A12	CNNM2	SLC45A1	MAOA	B3GALNT2	PCGF2	KDM5B	TMEM106B	GRIK2	HTRA2	KCNQ5	CRADD	RPGRIP1L	PTEN	TAOK1	UBE3A	FBLN5	MED12L	ALKBH8	NDUFA11	ZNF292	ASXL3	UPF3B	INTS1	WASF1	RORA	RPS6KA3	SLC35C1	ADSL	TMEM231	ZMYM2	ALG11	OTX2	WFS1	NDUFV2	FOXG1	BCKDK	NDUFA6	SON	BRSK2	MT-ND1	GRIA3	DHDDS	RREB1	CLIP2	GLYCTK	EXTL3	GTF2IRD1	OTUD6B	SPECC1L	NUBPL	HCFC1	DALRD3	SMAD4	COMT	TREM2	TMEM237	FLCN	TRMT1	KANSL1	FRMPD4	PARK7	NDUFV1	GTF2I	NCF1	DOCK3	SCN3A	MAPK8IP3	CHMP2B	MT-ND3	YY1	RPS23	NTRK2	AHDC1	SZT2	TRIO	AP2M1	MSTO1	NDUFS6	NHS	SMARCA4	MAPT	FTSJ1	CACNG2	NDUFAF1	ATG7	GALT	TMEM216	MADD	DPYSL5	YWHAG	NDUFS1	C12orf4	GNAO1	CHD1	MID1	ADGRV1	PACS2	KDM5C	WAC	TBCK	SMC1A	CAMK2B	KCNMA1	ZMYND11	NTNG1	ARHGEF6	BCL7B	SMG9	TRPM3	FGFR1	KCNB1	NDP	ASH1L	PPM1D	ARID1A	NDUFS2	SYNJ1	MKRN3	BPTF	HNMT	WDR26	DNAJC6	SOX11	PODXL	AUTS2	PRDM16	POGZ	CHD7	NAGA	IFNG	SBDS	PROKR2	DNAJC21	LMAN2L	GRIN2D	CCDC32	MAP1B	ATP6V1B2	PIGP	POLR2A	MEG3	CLIP1	PRICKLE2	TRRAP	SCN8A	SLC6A1	EEF1A2	RFC2	WASHC4	MICOS13	NPRL2	PGAP1	CAMK2A	NLGN4X	UBR7	DLG3	SIM1	STEEP1	PRR12	CARS2	BICRA	GRIA4	PGAP2	NAA20	FOXP1	MEF2C	TECR	FBXO31	HNF1B	SIK1	DYNC1H1	NONO	REV3L	GRM7	NR2F1	DMXL2	PRSS12	CYFIP2	HNRNPH2	CASK	AGTR2	ATRX	SLC13A5	GRIA2	DNM1	METTL23	COG5	SMARCA2	RNF2	ZNF462	SNCA	EDC3	CSNK2B	ANKRD11	TMEM222	ACOX1	DEPDC5	TBX2	SH2B1	GP1BB	PAK3	SNORD116-1	GATAD2B	MLXIPL	NDUFA1	SRY	NDUFB9	NDUFAF5	ARID2	NEUROD2	TRIM8	MED25	GRN	PIGC	ALG14	MCTP2	ZC3H14	TBC1D24	ZNF41	PUS3	MED13	GDI1	LIMK1	TM4SF20	GNAQ	PRKAR1A	NFIB	PUF60	SARS1	C9orf72	DLG4	NUS1	UBE4B	ARVCF	SLC9A7	CUL3	DCX	NDUFAF8	KAT6A	CDK19	DPAGT1	UBTF	NSD1	TMLHE	CTNNB1	AP1S2	MT-ND2	IQSEC1	SOX4	DDX6	METTL5	CEP290	CHRNA7	BCAS3	SETD2	SMARCC2	CACNA1C	MBD5	PALS1	EGF	PIGV	SLC25A1	TET3	SLC6A8	CUX1	KIRREL3	TUBB3	MBOAT7	TBC1D23	MMP23B	SOX3	SYP	SMARCE1	CRBN	CACNA1B	TTC5	EPB41L1	GNB2	TBL2	ALDH4A1	VAMP2	PWAR1	AP1G1	GJA8	STAG2	WWOX	SEC23B	TNIK	OPHN1	STAG1	GPHN	TMEM270	PPP2CA	PPP2R5D	DPF2	HTT	CLN5	HECW2	UFSP2	RNF135	ZBTB20	MID2	STX1A	ATP6V1A	NDST1	GRIN2B	TRAK1	CLP1	CASZ1	LMBRD2	SLC9A6	JMJD1C	GTF2IRD2	TWNK	PIGO	GFM2	FGF12	CACNA2D2	LUZP1	VCP	PWRN1	AIMP1	DOCK8	AGTPBP1	STX1B	JAG2	SKI	THOC2	ALDH5A1	UCHL1	HUWE1	PIGY	FTCD	CAMTA1	SDHB	COX10	EIF5A	MAPK10	NDUFC2	TRAPPC4	SLC25A22	NEMF	CAPN15	JARID2
HP_INFLEXIBLE_ADHERENCE_TO_ROUTINES_OR_RITUALS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFLEXIBLE_ADHERENCE_TO_ROUTINES_OR_RITUALS	NLGN4X	MECP2	FOXP1	NLGN3	SNRPN
HP_STEREOTYPY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STEREOTYPY	PRODH	KAT5	UBE3A	CHD3	TARDBP	DCPS	TREM2	CACNA1I	SLC2A1	NCDN	FLCN	RTTN	CDKL5	TRIM8	TBR1	BRAF	TTI2	MGAT2	NOVA2	SNRPN	MED25	GRN	AP4B1	PIGC	TKT	CDH15	ZC3H14	HERC2	NLGN4X	KYNU	KIF1A	GABRG2	FBXW11	AFF2	LARP7	LMNB1	CTBP1	CHMP2B	RAB11B	HDAC4	TRIO	TRAPPC9	SARS1	C9orf72	PRKCZ	CHRNA2	GRIK2	KCNB1	EBF3	ERBB4	UBE4B	MAPT	MYT1L	TBCD	CACNG2	KCNT1	MECP2	CERT1	ALKBH8	NEXMIF	CREBBP	KAT6A	ELP2	NAA15	MADD	DOCK7	HUWE1	FOXP1	NACC1	DPAGT1	C12orf4	CNTNAP2	FOXG1	ARID2	CHD1	ADNP	CC2D1A	IQSEC1	RAC1	EHMT1	SMC1A	KIF5C	TSC1	CAMK2B	MED12L	JRK	KCNAB2	FMN2	GRIN1	SLC1A4	MBD5	ZMYND11	CIC	NTNG1	FRRS1L	SHANK3	CACNA1H	ZEB2	TRPM3	AP4S1	CLCN3	DLL1	NDP	ASH1L	NBEA	OCRL	CUX1	KIRREL3	SPTBN1	TUBB3	CHAMP1	DDC	DDX6	MBOAT7	TBC1D23	RAI1	TCF4	MMP23B	TANC2	KPTN	HNMT	KIF15	WDR26	GABRB3	SCN1A	DEAF1	PDPN	NLGN3	DYRK1A	SOX5	TBX1	CRBN	AUTS2	GABRA1	PRDM16	GRM7	POGZ	AP4E1	TTC5	EPB41L1	GNB2	NARS1	SYT1	GRIN2A	LINS1	TUSC3	SQSTM1	LMAN2L	NPC2	NSD2	UBE4A	NSUN2	VAMP2	EXT2	EZR	PDE2A	AFF3	RSRC1	SPEN	TNIK	HSPG2	CPLX1	FGFRL1	RERE	CLIP1	PRICKLE2	SIK1	NTRK2	WASHC4	PGAP1	CAMK2A	PPP2R5D	HIVEP2	KMT2A	GUCY2D	HECW2	NAGS	PPP3CA	CRH	RAB39B	OCA2	UFSP2	BICRA	ZBTB20	CELF2	NDST1	CDK19	GRIN2B	SET	SPATA5	EEF1A2	NAA20	OPHN1	NTNG2	CABP4	TSC2	PUF60	MEF2C	FMR1	SYNGAP1	TECR	FBXO31	SLC12A2	CASZ1	DEPDC5	BCORL1	DYNC1H1	SLC9A6	NR2F1	CHRNA4	KDM5B	SLC45A1	SETD1B	PRSS12	FLII	B3GALNT2	HNRNPH2	TMEM106B	SH2B1	KCNQ5	CRADD	GRIA2	EP300	PSEN1	SLC6A8	LETM1	TAOK1	LUZP1	RPE65	METTL23	ST3GAL3	VCP	CLTC	SMARCA2	AIMP1	ASXL3	DOCK8	RAB11A	TFE3	EDC3	MED23	ZMYM2	MAN1B1	CSNK2B	CHRNB2	IQSEC2	TMEM222	SHMT2	NAA10	SATB1	GABRD	SKI	THOC2	AP4M1	BRSK2	DPYSL5	GABBR2	EXTL3	TRAPPC6B	NEMF	NAT8L	AP1G1	DNAJC19
HP_DISINHIBITION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISINHIBITION	MAPT	TARDBP	DCPS	TREM2	PSEN2	NCDN	CLTC	VPS13A	MED25	GRN	ABCA7	PARK7	PIGC	CDON	LGI1	ZC3H14	FBXW11	AFF2	CHCHD10	TYROBP	SCN3A	PCDH19	PINK1	CHMP2B	GABRA1	PTCHD1	CDH2	DEPDC5	NTRK2	SZT2	SIX3	PSEN1	TRAPPC9	GAS1	SARS1	C9orf72	GRIK2	SCN9A	PTCH1	NUS1	HTT	GABRA2	KANSL1	SCN8A	C19orf12	LRRK2	CREBBP	DNAJC13	NTRK1	ATP1A3	CDK19	APP	YWHAG	UBTF	C12orf4	PLA2G6	CC2D1A	ARV1	IQSEC1	VANGL1	SQSTM1	TSC1	FMN2	CNKSR2	ATP1A2	FRRS1L	CACNA1A	SCN1A	KCNB1	HCN1	SCN2A	TOMM40	NODAL	SPTBN1	STIL	DNMT1	SYNJ1	MBOAT7	HNMT	DNAJC6	UBA5	PODXL	CRBN	AMT	GRM7	ZIC2	CACNA1B	TTC5	GNB2	LINS1	TMEM240	TUSC3	LMAN2L	FGF8	HIVEP2	GABRB2	SORL1	TGIF1	UBE4A	NSUN2	GRIN2D	EZR	MAGEL2	IL1RAPL1	GLDC	VCP	GCSH	WWOX	RSRC1	SPEN	GABRG2	SNCA	TNIK	PRKN	ADAT3	SYNGAP1	CLIP1	CELF2	USP7	SLC1A2	FMR1	VPS16	EEF1A2	WASHC4	KCNA2	PGAP1	AARS1	VPS13C	TDGF1	PPP3CA	UFSP2	TBK1	ATP6V1A	NDST1	GBA	SRCAP	ACTL6B	TRAK1	NAA20	TSC2	FUS	COQ5	TECR	FBXO31	SLC12A2	NONO	PANK2	CEP152	RELN	PHIP	SLC2A3	SLC45A1	MAOA	PRSS12	DISP1	GLI2	CYFIP2	B3GALNT2	DLL1	KDM5B	TMEM106B	GIGYF2	HTRA2	GRIN2A	SLC13A5	CRADD	EP300	FGF12	DNM1	GABRA5	SCN1B	HEPHL1	METTL23	ST3GAL3	ALKBH8	AIMP1	EIF4G1	VPS35	FGF13	SLC1A3	FUZ	EDC3	MED23	PARS2	SHH	MAN1B1	FOXH1	NECAP1	DPYSL5	WDR62	UCHL1	KNL1	DHDDS	DCTN1	FTL	NEMF	SUGCT	AP1G1	SPAST	AP3B2	DALRD3
HP_IMPAIRED_SOCIAL_INTERACTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_SOCIAL_INTERACTIONS	NDUFB3	SPEN	NDUFA1	ADNP	NDUFAF4	PRKN	NDUFB9	NALCN	GABRA2	FLCN	NDUFAF5	CDKL5	DLK1	TRIM8	TBR1	MEG3	NDUFS3	SNRPN	NDUFA13	FRMPD4	OPHN1	PARK7	ALG13	GPHN	NDUFB11	NDUFV1	NLGN4X	SLC6A1	PUS3	FOXRED1	MICOS13	PINK1	CHD2	MT-ND3	KCNT1	ARFGEF2	RAB11B	VPS13C	SYT1	GNB5	NDUFS4	NLGN3	AP2M1	FMR1	PUF60	NDUFS7	CNTNAP2	CREBBP	UGP2	NDUFS6	SPATA5	SYNGAP1	CLP1	NDUFAF1	NTRK2	MECP2	POLA1	NEXMIF	ST3GAL3	NDUFAF2	NDUFAF8	DOCK7	SLC25A12	NDUFAF3	DOLK	NDUFS1	AP3B2	MT-ND2	NLGN1	DEAF1	MFF	SMC1A	GFM1	TWNK	SH2B1	NDUFS8	HTRA2	UBA5	IREB2	GFM2	EP300	SLC6A8	NTNG1	SHANK3	RARS1	SMG9	SLC25A1	CACNA2D2	TET3	NDUFA11	SLC2A1	SPTBN1	TUBB3	NDUFS2	SCN1A	SYNJ1	TBC1D23	ADSL	NDUFB10	SNCA	AGTPBP1	NF1	ALG11	DNAJC6	HERC1	IQSEC2	NDUFV2	FOXG1	MED12	NDUFA6	PODXL	GRIN1	ACOX1	RTL1	TMEM126B	NEUROD2	UCHL1	MT-ND1	GRIA3	CUX2	MEF2C	COX10	TIMMDC1	GABBR2	GALNT2	NDUFC2	EXTL3	NUBPL	LRRK2	PIGP
HP_SHORT_ATTENTION_SPAN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_ATTENTION_SPAN	RERE	NTNG2	COMT	DCPS	ZMIZ1	NCDN	TRMT1	CDKN2B	CLCN4	NDN	DRD5	SRPX2	ABCD1	KANSL1	SHH	PARK7	GTF2I	NCF1	HSPG2	TIMM8A	TGIF1	DOCK3	SCN3A	PIEZO2	FBXO11	GABRA1	PTCHD1	TSC2	YY1	SUCLG1	CDH2	PHF21A	MED27	EIF4H	HDAC4	NTRK2	CDKN1A	SZT2	PRNP	TRIO	AP2M1	SIX3	ODC1	CHRNA2	GRIK2	SCN9A	PTCH1	TUBG1	MT-TH	RSRC1	CDON	FOXH1	UBE3A	ATP13A2	FGF8	SOBP	FGFR1	MT-CO1	TSC1	ACTL6B	KCNT1	MT-ND1	GALT	EMC10	MADD	CRKL	NTRK1	TRAPPC14	DPYSL5	YWHAG	C12orf4	PAH	TDGF1	SMC3	PLAG1	MID1	CC2D1A	ARV1	PTPN23	SH3KBP1	TRIP12	WAC	GLRX5	GRIN2A	JRK	IQSEC1	FMN2	RPS20	SIN3B	MAPK8IP3	THRB	KCNMA1	ATP1A2	ARHGEF6	SETBP1	STIL	BCL7B	MT-TF	CACNA1A	SCN1A	KCNB1	NDP	SCN2A	PPM1D	SLC2A1	IQSEC2	NODAL	SPTBN1	FBXW11	WDFY3	SYNJ1	MKRN3	BPTF	HNMT	MED12	TCF20	GABRB3	ATP10A	DNAJC6	UBA5	LHCGR	SOX5	EPCAM	ZIC2	PODXL	MT-CO2	ZNF711	AUTS2	PSAP	CHD7	IFNG	SBDS	TUSC3	BCORL1	DISP1	RLIM	MT-TL1	PLA2G6	DNAJC21	HDC	LMAN2L	ZDHHC9	METTL27	NPAP1	GABRB2	CREBBP	PPP1R12A	HOXA2	NSUN2	TMCO1	GRIN2D	CCDC32	USP9X	DYRK1A	STS	MAP1B	NEXMIF	MYT1L	LRRK2	SMC1A	DCDC2	ANKRD17	SPEN	FGD1	PRKAR1B	DYNC1I2	PRKN	RAD21	AUH	CLIP1	ELN	MLH3	PANK2	SNRPN	TBX1	SLC1A2	SLC6A1	SLC12A2	EEF1A2	TGFBR2	RFC2	WASHC4	KCNA2	PGAP1	PNKP	ARSA	AARS1	VPS13C	TKT	UBR7	KMT2E	LIG4	MSH2	DLG3	STEEP1	KIF14	IDS	PRR12	KRAS	OCA2	FKBP6	TNRC6B	BRD4	GRIA4	HMGA2	HPDL	FANCD2	SRP54	NAA20	CSGALNACT1	CABP4	FOXP1	RAI1	COQ5	TECR	GAS1	FBXO31	POLA1	FRMPD4	MAGEL2	BUD23	ANAPC1	RAB39B	DNAJC30	NR2F1	TCF7L2	PCNT	NLGN1	PHIP	PUS7	TLK2	DLL1	FLI1	VPS13A	GALC	PRSS12	CYFIP2	FLII	GNE	HNRNPH2	SYNCRIP	AGTR2	VPS37D	AASS	DEAF1	KIF11	SLC13A5	SATB2	TUBB2B	DNM1	GABRA5	AGO2	METTL23	ST3GAL3	BMPR1A	SMARCA2	RNF2	TFE3	FAN1	SECISBP2	SNORD115-1	SNCA	EDC3	NTNG1	CNKSR2	MED23	PARS2	EP300	KDM3B	NECAP1	SETD5	CLTC	SATB1	GLUD1	CNOT3	SCN8A	USP27X	TAF1	WBP11	PURA	KAT8	SETD1A	ZNF81	MT-ND4	GP1BB	PAK3	SNORD116-1	MECP2	CDK8	NAT8L	NBEA	AP3B2	KAT5	EFL1	MLXIPL	MT-ND6	HDAC8	TMEM67	KDM4B	MED25	TSHB	PIGC	MCTP2	ZC3H14	GABRG2	ZNF41	PSMD12	MED13	NOP56	STAG2	PCDH19	PINK1	CHD2	GDI1	LIMK1	FTSJ1	SPRED1	GNAQ	CLCN3	IGF2	NIPA1	MT-TW	TRAPPC9	SARS1	SLC7A6OS	NUS1	GABRA2	MLH1	CYP27A1	SEMA3E	ARVCF	ALKBH8	TNPO2	SLC9A7	GLI2	UFD1	NAA15	SH2B1	ATP1A3	CDK19	DDB1	NSD1	CDKN1C	TANC2	ARID2	DDX6	UBE4A	METTL5	HIRA	CHRNA7	BCAS3	SETD2	SHOC2	DMD	FRRS1L	CACNA1H	PALS1	TET3	SYNGAP1	HCN1	OCRL	SEMA4A	TUBB3	ACSL4	NBN	ACTL6A	MBOAT7	SYP	NF1	MT-CO3	NKX2-1	CRBN	GRM7	TSPAN7	CACNA1B	TTC5	PMS2	MAPK1	LINS1	UPF3B	SEC24C	TBL2	PIK3CA	ALDH4A1	EZR	PWAR1	RIC1	SPG7	HS2ST1	IGF1	WWOX	APC2	SRCAP	ADNP	TNIK	IL1RAPL1	DHCR7	FGFR3	ASPM	DHTKD1	SMPD1	OPHN1	NIPBL	CELF2	TMEM270	USP7	GNB5	FMR1	SIM1	KMT2A	MT-TS2	HTT	PPP3CA	CRH	PMS1	UFSP2	CIC	DNAJC12	MID2	STX1A	DRD4	ATP6V1A	NDST1	NIPA2	PIGY	SIN3A	AHCY	CDKN1B	BAZ1B	TRAK1	ADH5	MAN2B1	ARX	DEPDC5	TBL1X	ALG13	MT-ND5	SYNE1	LMBRD2	GATA4	CHRNA4	JMJD1C	BCR	SLC45A1	GTF2IRD2	B3GALNT2	SVBP	PCGF2	KDM5B	MSH6	HTRA2	HERC2	DPH1	MEN1	CRADD	SLC6A8	FGF12	TAOK1	NKAP	SCN1B	MED12L	IKBKG	PWRN1	SPG11	AIMP1	ZNF292	MBD5	WASF1	RPS6KA3	FGF13	ZMYM2	MAN1B1	CHRNB2	ARF1	CSNK2A1	SHMT2	CARS1	UCHL1	HUWE1	DHDDS	PPP1R21	RREB1	CDKN2C	CLIP2	PRKCG	TRAPPC4	GTF2IRD1	NEMF	MT-TQ	AP1G1	JARID2	HCFC1	DALRD3	SLITRK1
HP_IRRITABILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRRITABILITY	TP53	NPHS1	IL12A-AS1	PTCH1	YIF1B	MAPT	IL12A	TREM2	NDUFAF4	TBC1D8B	EPCAM	ASL	SHH	GRN	SEPSECS	ATP5F1A	HBB	QDPR	FIG4	SIX3	ABCC6	HSPG2	TGIF1	SLC19A3	STAG2	CHMP2B	MT-ATP6	SDHA	PSAP	MED12	NUP85	SUCLA2	HLA-B	PSEN1	C9orf72	WT1	ERAP1	FBP1	TTI2	PAX2	HTT	CDON	SLC25A20	FOXH1	DLL1	NUP107	MLH1	PYGL	FGF8	FGFR1	ZIC2	RNF13	NSDHL	MYO1E	GLI2	SMPD1	ST3GAL3	DCX	COL4A3	ALPL	NHLRC2	VDR	PRF1	TREX1	RNASEH2C	STAT4	NACC1	UBAC2	PAH	IFIH1	TDGF1	RNU7-1	CLP1	ARG1	HLA-DQB1	GLRX5	SDHAF1	RNASEH2B	SLC1A4	MEFV	GAS1	RPS20	SLC46A1	UBA5	GNAS	STIL	SLC25A1	GALC	NDP	SMC1A	ST3GAL5	IBA57	SPTBN1	ASPA	DNMT1	SEMA4A	DDC	CACNA1A	SLC25A19	PTPRO	NUP37	ITPA	SLC6A3	TK2	NODAL	TH	CCR1	NAXD	AMT	TSPOAP1	PRNP	PMS2	OTC	PLCE1	CRB2	NDUFS1	VPS53	DISP1	SQSTM1	ANLN	ASS1	PIK3CA	ALDH7A1	GLDC	GRIA4	NUP160	GCSH	SAMHD1	GAPVD1	SLC2A1	CD2AP	CYP27B1	ADAR	EHMT1	DPYD	MLH3	PCBD1	TLR4	NUP133	TGFBR2	EXOC8	SDHB	IL10	EMP2	CYP2R1	MAGI2	PTS	ASAH1	NUP93	MSH2	PHGDH	COG4	JPH3	KRAS	PMS1	SLC25A13	GYS2	LSM11	PPT1	HIBCH	FMR1	TYROBP	AQP2	ABCC8	GCH1	PANK2	ENPP1	HTRA1	TCN2	NPHS2	SLC39A4	COQ8B	SLC2A3	VPS13A	PLPBP	DARS1	CNP	IFNGR1	SLC13A5	TMEM106B	MSH6	HLCS	SLC16A2	SLC1A2	AIFM1	C4A	FDFT1	APOL1	AVPR2	STUB1	BMPR1A	VCP	SMARCB1	FAN1	NUP205	KLRC4	ACTN4	MECP2	FOXG1	ACOX1	CARS1	ARHGAP24	IL23R	ARHGDIA	TRPC6	ALG9	ANKFY1	SDHD	STX16	INF2	CLN8	RNASEH2A	TMEM237	FAS	PRRT2	NFIX	CPS1	PYCR2	AVP
HP_HALLUCINATIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HALLUCINATIONS	ATXN8OS	ARSG	FBXO7	DRD3	SNCA	PSEN2	CACNA1A	DAOA	PRKN	ECM1	OPA1	ZNF365	NHLRC1	COMT	CISD2	HMBS	CEP85L	DNM1L	MT-TT	ABCA7	PARK7	TARDBP	HLA-DQB1	MLH3	LGI1	GLUD2	APOL4	TGFBR2	CHCHD10	BPTF	WHRN	MTHFR	PINK1	NPRL2	BCKDHA	DCAF17	TBP	ARSA	VPS13C	CDH2	DEPDC5	CYP27A1	CLN5	FIG4	WFS1	MSH2	JPH3	KRAS	CHI3L1	PMS1	SLC25A13	HTR2A	PPT1	HTT	GBA	GRN	HCRT	MLH1	ATP13A2	FUS	SON	MAN2B1	LRRK2	SNCAIP	SNCB	DNAJC13	MYO7A	APP	USH1C	ADGRV1	CEP78	CLTRN	RELN	TBK1	SLC2A3	PSAP	NR4A2	SQSTM1	PSEN1	CIB2	ATXN2	DBT	PUS3	RTN4R	HLA-DRB1	ADH1C	MSH6	GIGYF2	HTRA2	RPS20	ALAD	SPART	EPM2A	DNAJC6	TNFSF4	P2RY11	NDP	TOMM40	BMPR1A	C9orf72	SEMA4A	EIF4G1	VPS35	SYNJ1	PRDM8	MT-TS2	PRNP	MMACHC	FAN1	USH1G	MED12	CDH23	SYN2	APOL2	ESPN	MAPT	EPCAM	PODXL	PSMD12	DNAJC5	BCKDHB	PMS2	HARS1	ALDH5A1	CLRN1	UCHL1	CPOX	NPRL3	PCDH15	UPF3B	ZDHHC9	USH2A	PIK3CA	MOG	BCS1L	ALDH4A1	SORL1	CTSH	CLN6	TTC19	TREM2	PDZD7	VCP	SLC6A19	PPOX
HP_SELF_MUTILATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SELF_MUTILATION	NTRK1	VPS13A	EP300	NDE1	MADD	TREX1	TMEM231	AUH	CLTCL1	THOC2	SMG8	MGAT2	NAA10	SLC6A17	GRIA3	OPHN1	INPP5E	DPYD	HDC	HERC2	CHD7	LARP7	DHCR7	CREBBP	SLC6A8	BCOR	ATG7	GRM7	TMCO1	SYT1	NAT8L	RAI1	CNTNAP2	PAH	ADSL	TRIO	RNU7-1	SATB2	SLITRK1	SEMA3E	GATAD2B
HP_LOW_FRUSTRATION_TOLERANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_FRUSTRATION_TOLERANCE	PUF60	KDM5C	LRRK2	MAOA	MED12	SNCA	PPP2R5D	SMARCA2	EIF4G1	VPS35	DNAJC13	KMT2A	GBA	GNB2	GIGYF2	CNTNAP2	OPHN1	GATAD2B
HP_DIMINISHED_MOTIVATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIMINISHED_MOTIVATION	PTCH1	PRKAR1B	MAPT	TARDBP	SNCA	TREM2	PRKN	PSEN1	EHMT1	SHH	GRN	PARK7	COQ2	ZIC2	SIX3	CP	CHCHD10	TGIF1	STAG2	PINK1	CHMP2B	VPS13C	STIL	CDON	ACAT1	GLI2	JPH3	C9orf72	FGF8	TBK1	PDGFB	HTT	GBA	FOXH1	DLL1	ATP13A2	FUS	FGFR1	GAS1	LRRK2	DCX	DCTN1	DNAJC13	TREX1	PANK2	HMGCL	DISP1	NODAL	TDGF1	HTRA1	GM2A	SLC2A3	VPS13A	HLA-DQB1	ATXN1	SQSTM1	TMEM106B	GIGYF2	HTRA2	ALAD	SMC1A	VCP	DNMT1	NOTCH3	EIF4G1	VPS35	CACNA1A	SYNJ1	HEXA	SPG21	PRNP	SMARCB1	DNAJC6	HFE	PODXL	UCHL1	TMEM240	FMR1	ATXN10	SPAST
HP_DELUSIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELUSIONS	EIF2B1	EIF2B4	SLC2A3	PSAP	DRD3	VPS13A	HLA-DQB1	DAOA	PRNP	ECM1	RTN4R	ARSA	COMT	PLA2G6	CDH23	HMBS	APOL4	TIMM8A	MTHFR	C9orf72	DGCR6	TBP	PRDM8	CYP27A1	EIF2B5	SNCA	SYN2	JPH3	CHI3L1	SLC25A13	TBX1	HTR2A	FMO3	APOL2	HTT	IMPA1	CPOX	DGCR8	USP8	DGCR2	EIF2B3	MAN2B1	SNCB	ESS2	GBA	PPOX	EIF2B2	PPP2R2B
HP_INAPPROPRIATE_LAUGHTER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INAPPROPRIATE_LAUGHTER	ATP10A	PSEN1	CDKL5	OCA2	TBC1D2B	PGAP1	MAPT	DYRK1A	GRIK2	HSD17B10	UBE3A	SMC1A	ATRX	NOVA2	KANSL1	NTNG2	NTNG1	SNRPN	SLC6A17	GABBR2	GATAD2B	PIGS	SLC9A6	ADSL	PDE2A	MECP2	GLI3	MBD5
HP_PAROXYSMAL_BURSTS_OF_LAUGHTER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAROXYSMAL_BURSTS_OF_LAUGHTER	SNRPN	GRIK2	HSD17B10	UBE3A	NTNG2	GLI3	ATRX	MBD5
HP_PERSONALITY_CHANGES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERSONALITY_CHANGES	ATXN8OS	APOE	EIF2B1	EIF2B4	MT-ND6	HLA-DQB1	NR4A2	MAPT	TREM2	PRNP	PSEN1	ATXN2	ADH1C	TMEM106B	PLA2G6	VPS13A	MT-TT	GRN	GBA	MT-TF	GLUD2	HTT	TIMM8A	TYROBP	CHMP2B	VCP	TBP	PNPLA6	MT-TS2	MMACHC	SQSTM1	EIF2B5	MT-TW	MT-CO3	C9orf72	TBK1	MT-CO2	MT-TH	JPH3	ATP7B	MT-TL1	MT-CO1	EIF2B3	RNF216	TIA1	DCTN1	MT-ND1	MT-ND4	SNCAIP	LMNB1	MT-ND5	MT-TQ	EIF2B2
HP_HYPERACTIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERACTIVITY	RERE	PRODH	SETBP1	NTNG2	COMT	DCPS	ZMIZ1	NCDN	FLCN	TRMT1	CLCN4	NDN	DRD5	ABCD1	KANSL1	SHH	FRMPD4	GTF2I	SCN2A	NCF1	HSPG2	TIMM8A	TGIF1	DOCK3	SCN3A	PIEZO2	PNP	FBXO11	PTCHD1	TSC2	YY1	TRIP12	CDH2	PHF21A	MED27	EIF4H	HDAC4	NTRK2	SZT2	PRNP	TRIO	AP2M1	PNKP	PAH	ODC1	CHRNA2	GRIK2	TUBG1	RSRC1	CDON	FOXH1	SMARCA4	HAL	UBE3A	FGF8	FGFR1	NSDHL	TSC1	ACTL6B	KCNT1	GALT	EMC10	MADD	CRKL	NTRK1	TRAPPC14	DPYSL5	YWHAG	C12orf4	CNTNAP2	GNAO1	TDGF1	SMC3	CORO1A	PLAG1	CC2D1A	ARV1	PTPN23	SH3KBP1	WAC	NAGLU	SMARCB1	JRK	IQSEC1	FMN2	SLC1A4	RPS20	MAPK8IP3	THRB	KCNMA1	ATP1A2	ARHGEF6	PPP2R1A	STIL	BCL7B	CACNA1A	KCNB1	CLCN3	NDP	TSHR	PPM1D	SLC2A1	ARID1A	IQSEC2	SIX3	SPTBN1	FBXW11	WDFY3	SYNJ1	SGSH	TCF20	RAI1	MKRN3	BPTF	HNMT	MED12	GABRB3	ATP10A	PTCH1	EBP	SOX11	UBA5	UQCC2	LHCGR	KCNA1	SOX5	EPCAM	ZIC2	ZNF711	APC2	ATRX	AUTS2	AMT	ARID1B	POGZ	CHD7	ZSWIM6	IFNG	TUSC3	BCORL1	DISP1	RLIM	PLA2G6	HDC	LMAN2L	ZDHHC9	GRIN2A	METTL27	NPAP1	DHCR7	GABRB2	CREBBP	PPP1R12A	HOXA2	NSUN2	TMCO1	GRIN2D	CCDC32	USP9X	DYRK1A	STS	MAP1B	NEXMIF	MYT1L	SMC1A	DCDC2	CAMTA1	GCSH	ANKRD17	SPEN	FGD1	DYNC1I2	ADAT3	CHD2	RAD21	CLIP1	ELN	MLH3	PANK2	SNRPN	TBX1	SLC1A2	LNPK	ASH1L	SLC6A1	SLC12A2	EEF1A2	TGFBR2	RFC2	WASHC4	KCNA2	PGAP1	AARS1	TKT	UBR7	KMT2E	LIG4	MSH2	DLG3	STEEP1	KIF14	PRR12	ACY1	KRAS	RAB39B	SLC25A13	OCA2	GAMT	FKBP6	TNRC6B	BRD4	GRIA4	HMGA2	HPDL	FANCD2	ATR	SMARCC2	RUSC2	SMARCD1	NAA20	CSGALNACT1	CABP4	FOXP1	KCNK9	PDE4D	TECR	GAS1	FBXO31	MICU1	POLA1	SIK1	MAGEL2	BUD23	ANAPC1	ANK3	SATB2	DNAJC30	GRM7	NR2F1	TCF7L2	PCNT	NLGN1	PHIP	PUS7	TLK2	DLL1	DMXL2	FLI1	VPS13A	GALC	PRSS12	CYFIP2	FLII	GNE	NODAL	HNRNPH2	SYNCRIP	CASK	AGTR2	SCN1B	VPS37D	AASS	DEAF1	KIF11	SLC13A5	EP300	TUBB2B	DNM1	GABRA5	AGO2	METTL23	ST3GAL3	BMPR1A	CUX2	SMARCA2	SCN1A	RNF2	FAN1	SNORD115-1	TRAPPC9	EDC3	NTNG1	CNKSR2	MED23	PARS2	MECP2	TMEM222	KDM3B	NECAP1	SETD5	CLTC	GLUD1	CNOT3	ATP1A1	SCN8A	USP27X	TAF1	WBP11	KAT8	AFF2	SETD1A	ZNF81	GP1BB	PAK3	SNORD116-1	HTT	SRPX2	CDK8	NBEA	AP3B2	GATAD2B	MBD5	KDM6B	KAT5	MLXIPL	HDAC8	TMEM67	KDM4B	ARID2	NEUROD2	TTI2	MTOR	MED25	INPP5E	TSHB	PIGC	ALG14	MCTP2	ZC3H14	HERC2	GABRG2	ZNF41	PSMD12	MED13	NOP56	STAG2	GDI1	LIMK1	FTSJ1	SPRED1	GNAQ	PRKAR1A	IGF2	NIPA1	FMR1	PUF60	SARS1	SLC7A6OS	DDX3X	NUS1	CDKL5	GABRA2	MLH1	CYP27A1	SEMA3E	ARVCF	ALKBH8	TNPO2	SLC9A7	CUL3	GLI2	CUL4B	UFD1	NAA15	SH2B1	HUWE1	CCBE1	ATP1A3	CDK19	TAF6	UBTF	DDB1	NSD1	CDKN1C	TANC2	ADNP	ARG1	SOX4	DDX6	UBE4A	METTL5	HIRA	CHRNA7	BCAS3	SETD2	SHOC2	PIGQ	DMD	FRRS1L	CACNA1H	PALS1	TET3	SYNGAP1	HCN1	SLC6A8	OCRL	SEMA4A	ACSL4	NBN	ACTL6A	MBOAT7	ARX	SYP	KIF15	NKX2-1	SHANK3	TNIK	HGSNAT	SMARCE1	CRBN	GABRA1	TSPAN7	CACNA1B	TTC5	PMS2	BSCL2	MAPK1	LINS1	UPF3B	SEC24C	TBL2	PIK3CA	HIVEP2	EZR	PWAR1	AP1G1	IL1RAPL1	GLDC	RIC1	SPG7	DYM	HS2ST1	SPR	IGF1	WWOX	TRIM8	SRCAP	DPYD	FGFR3	GNS	ASPM	DHTKD1	SMPD1	SATB1	OPHN1	NIPBL	CELF2	TMEM270	USP7	GNB5	SIM1	KMT2A	DPF2	DPP6	CLN5	PPP3CA	CRH	KDM5C	PMS1	UFSP2	CIC	DNAJC12	MID2	STX1A	DNAJC21	DRD4	ATP6V1A	NDST1	NIPA2	PIGY	BAZ1B	TRAK1	ADH5	PCDH19	DEPDC5	TBL1X	ALG13	LMBRD2	GATA4	SIN3A	CHRNA4	SHROOM4	JMJD1C	BCR	SLC45A1	GTF2IRD2	B3GALNT2	SVBP	PCGF2	NF1	MED13L	KDM5B	MSH6	DPH1	CRADD	BCAP31	YME1L1	FGF12	TAOK1	NKAP	MED12L	IKBKG	PWRN1	AIMP1	ZNF292	WASF1	RPS6KA3	FGF13	ADSL	ZMYM2	MAN1B1	CHRNB2	ARF1	CSNK2A1	SHMT2	CARS1	ALDH5A1	WDR62	DHDDS	PPP1R21	MAPK10	RREB1	PIGP	CLIP2	PRKCG	TRAPPC4	SLC25A22	GTF2IRD1	NEMF	NFIX	JARID2	HCFC1	DALRD3	SLITRK1	MANBA
HP_LACK_OF_INSIGHT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACK_OF_INSIGHT	TBP	TMEM106B	C9orf72	TREM2	TYROBP	CHMP2B	VCP	GRN	PSEN1	MAPT	SQSTM1
HP_IMPAIRED_USE_OF_NONVERBAL_BEHAVIORS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_USE_OF_NONVERBAL_BEHAVIORS	NDUFB3	SPEN	NDUFA1	NDUFAF4	NDUFB9	NALCN	GABRA2	FLCN	NDUFAF5	CDKL5	DLK1	TRIM8	MEG3	NDUFS3	NDUFA13	FRMPD4	OPHN1	ALG13	GPHN	NDUFB11	NDUFV1	NLGN4X	FOXRED1	MICOS13	MT-ND3	KCNT1	ARFGEF2	RAB11B	SYT1	GNB5	NDUFS4	NLGN3	FMR1	PUF60	NDUFS7	UGP2	NDUFS6	SPATA5	CLP1	NDUFAF1	NTRK2	MECP2	NEXMIF	ST3GAL3	NDUFAF2	NDUFAF8	DOCK7	SLC25A12	NDUFAF3	DOLK	NDUFS1	CNTNAP2	SNRPN	AP3B2	MT-ND2	DEAF1	MFF	SMC1A	GFM1	TWNK	NDUFS8	UBA5	IREB2	GFM2	NTNG1	SHANK3	RARS1	SMG9	SLC25A1	CACNA2D2	NDUFA11	SPTBN1	NDUFS2	TBC1D23	ADSL	NDUFB10	AGTPBP1	NDUFV2	FOXG1	NDUFA6	GRIN1	RTL1	TMEM126B	NEUROD2	MT-ND1	GRIA3	CUX2	MEF2C	COX10	TIMMDC1	GABBR2	GALNT2	NDUFC2	NUBPL	PIGP
HP_ABNORMAL_PERIPHERAL_NERVOUS_SYSTEM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PERIPHERAL_NERVOUS_SYSTEM_MORPHOLOGY	NOTCH2NLC	MYO9A	AGRN	NALCN	MT-TE	KIT	CDKN2B	CLCN4	PDX1	AIFM1	FBXO38	INF2	PMP22	TCIRG1	SUMF1	KLHL41	DES	FLVCR1	PLA2G6	CHRNE	CHCHD10	COL6A2	VCP	PLD3	TRAPPC11	NF1	ATXN1	MPZ	TGFB1	IGHMBP2	MORC2	SUCLA2	NEFL	SLC25A4	BIN1	GCK	CTSD	TWNK	ATRX	SMARCE1	FBLN5	MYF6	OTX2	SLC5A7	TRIP4	DLST	BMS1	TBCD	LAMA2	ALS2	MT-CO1	C19orf12	COLQ	TRAF7	LRSAM1	MT-ND1	ASAH1	POLG	MYH14	GDAP1	PEX5	PLP1	SEMA3E	TRPM7	JPH1	OSMR	SLC52A3	PSAP	TPM3	VHL	DHH	SQSTM1	TSC1	SH3TC2	TPRKB	TXN2	SBF2	SDHAF2	CDH23	GFPT1	RYR1	MT-TF	GALC	KY	MTMR14	FKRP	CRYAB	SPTBN1	HRAS	SYT2	DNMT1	CHRNA1	COL6A3	LYST	MMACHC	GJA1	NDRG1	GJC2	MAPT	CPLANE1	SPG21	LMOD3	ARMC5	ZNF711	POLG2	PNKP	MTTP	DEGS1	BDNF	RAB7A	GBA2	XK	MT-TL1	GNE	TERT	PDGFB	GRN	USP9X	MYO1H	REEP1	ALDH18A1	PIK3CA	DYNC1H1	PLOD1	DNM2	BAG3	CADM3	PRX	PEX11B	COL13A1	WNK1	PNPLA6	SAMD9L	FLRT1	FKTN	NGLY1	MYPN	ATAD3A	ARSA	SLC52A2	PIGB	TBK1	SOST	DGUOK	SDHB	MT-TK	RET	GDF3	TSC2	MTRFR	BTNL2	KCNK9	ERCC6	RRM2B	MICU1	PDCD10	DNAJB6	PRPS1	PEX6	ZFYVE26	PEX10	PDK3	SDHD	DPAGT1	FGF14	VPS13D	HSPB8	SMN2	SPTLC1	IDUA	SDHC	MFF	VPS13A	SNX10	LMNA	RETREG1	ASCC1	PEX14	CRLF1	VWA1	SLC25A21	PTDSS1	SIGMAR1	ERCC8	APC	EGR2	MT-ND6	NTRK1	ACTA1	KLHL40	TRPV4	PEX13	ADGRG1	ABCD1	KIF1B	COG8	TUBB3	USP27X	TMEM127	PLXND1	MT-ATP6	MATR3	CDKN1B	ZNF81	MECP2	RFC1	GARS1	TNFRSF11A	SPG7	TPI1	SUPT16H	TPM2	LITAF	RAI1	MYL2	PEX1	SETX	PIEZO2	DOK7	COCH	SLC19A3	MAX	CNTNAP1	SPRED1	GSN	TFAP2A	LRP12	KBTBD13	LIG3	NAGA	MT-TW	ALG12	SCN4A	NEB	EXT1	PHOX2B	HNRNPA2B1	AMER1	NEFH	CTDP1	SIX1	ANO5	CYP27A1	HPDL	SALL4	LRP5	PTRH2	PRRX1	FGF3	DKK1	MFN2	MME	CHAT	ATXN10	MED25	DMD	MUSK	SLC39A14	SLC25A11	CLCN7	ACSL4	SMARCB1	GAN	POMT1	CAPN3	MDH2	MT-CO3	TK2	KARS1	SUFU	TSPAN7	PRNP	GNAS	MED12	TMEM106B	PRRT2	ERCC4	TTC19	SOX10	KIF1A	IL1RAPL1	RNF43	PRPH	SNAP29	VAMP1	MEGF10	CEP126	SPTBN4	PEX12	LRP4	MT-TS2	KLC2	GMPPB	ASCL1	VRK1	SPEG	MAFA	ANKH	ATL1	SMCHD1	BAP1	DLL4	UQCRC1	ARX	FAM126A	SERPING1	ARHGEF10	MT-ND5	ACOX1	MTM1	MT-TV	SOD1	CCND1	ABCC8	MAT1A	ATP13A2	BSCL2	ATL3	CLCF1	TFG	COL12A1	DCAF8	PMP2	NOD2	TTN	AARS1	PEX3	SCO2	HACE1	MT-ND4	C9orf72	COX20	SPG11	FH	UPF3B	SGCD	RPS6KA3	MOCS2	ABHD12	PEX26	COX6A1	AAAS	SYNE1	PTCHD1	SDHA	CCM2	AK9	CA2	CDKN2C	TRIM2	SMN1	MOCS1	MPV17	SIX5	HCFC1	COA7	YY1	BRAF	HK1	COL6A1	MT-ND3	INS	FXN	ALG2	MTMR2	KRIT1	ADSS1	WARS1	HINT1	WDR48	MLH1	CDKN1A	ABCA1	LZTR1	ADCY6	SBF1	SACS	SLC25A1	EYA1	ATP7A	MT-TH	DNMT3A	NF2	EXT2	ERBB2	MEN1	GDF6	USP8	CHD7	NGF	SLC29A3	LARGE1	GLE1	SPTLC2	LRPPRC	PRICKLE1	WFS1	PLEC	MEOX1	SLC18A3	ARHGEF6	APTX	DARS2	GCDH	B2M	AFG3L2	IQSEC2	CCT5	MYH7	FIG4	ADA2	CHRNB1	MT-CO2	PRKAR1A	SCN1A	HOXB1	RAPSN	GNB4	AMPD2	TBL1XR1	FGD4	ATXN3	ALG14	TDP1	DMPK	CHKB	GBF1	IBA57	ASXL1	TUBB6	YARS1	ERCC3	GDNF	SLC25A46	MARS1	LTBP3	DCTN1	DLG3	OPA1	KCNJ11	BICRA	MYMK	SLC25A15	SELENON	HARS1	FUS	FRMPD4	TBC1D20	RAB39B	PI4KA	REV3L	ATP1A2	KRAS	KCNJ10	NFASC	COL4A1	VPS41	AGTR2	CAPN1	CFL2	COASY	ELP1	SEPTIN9	CHRND	ZFHX4	GJB1	PEX19	SURF1	HSPB1	DNA2	COL25A1	DAXX	PAK3	EDN3	HLA-DRB1	PLEKHM1	NDUFAF4	LRP1	STAT3	XRCC4	FA2H	FRG1	MGME1	SRPX2	IFRD1	TRIM32	ZNF41	PNPT1	TYROBP	CHMP2B	GDI1	FTSJ1	TREM2	HSD17B4	KLHL9	ITGB4	SLC9A7	SNAP25	SMO	TBCE	NEMF	SLC12A6	CNKSR2	AKT1	LAMB2	SORD	POMT2	UBTF	PLEKHG5	SYP	CACNA1A	UBQLN2	TNFSF11	PEX2	GNB2	TYMP	ELOVL5	FLNC	ADPRS	PEX16	CRPPA	SCN9A	HMBS	TARDBP	CYP2U1	ELOVL4	PABPN1	KIF5A	MID2	ACADS	PUF60	NEU1	LMNB1	ALG13	SLC25A19	STEEP1	HNRNPA1	ZNHIT3	PSEN1	GMPPA	UBA1	MT-ND2	FBN1	KIF1C	GFM2	YME1L1	GBE1	COQ7	ZC4H2	TTR	SHMT2	PLEKHG4	MCM3AP	GCGR	EPAS1	GNAQ	MT-TQ	NARS2	DHX16	DDHD1
HP_SENSORY_NEUROPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SENSORY_NEUROPATHY	TDP1	AIFM1	MT-ND6	POLG	RAI1	SPTLC1	IBA57	VPS13A	XRCC4	PIEZO2	TWNK	FXN	CTLA4	TIMM8A	DNASE1L3	TFG	PLD3	PRPS1	MT-ATP6	HADHA	HINT1	MT-TS2	KLC2	GSN	TGFB1	NAGA	MT-TW	OPA1	CRAT	MORC2	TRPV4	TOP3A	HADHB	HNRNPA2B1	CTSD	MT-TH	CTDP1	ATL1	RNF170	DHH	CCT5	MT-CO1	VCP	TNXB	MT-ND1	ARL6IP1	AR	MT-ND5	TK2	SYNE1	ACOX1	SLC12A6	NF2	FGF14	PLP1	ALS2	HNRNPA1	RNU7-1	MFN2	ATP13A2	ATL3	ERLIN2	DKK1	HK1	PRICKLE1	LMNA	SPTLC2	CAPN1	DST	DNMT1	ALAD	IARS2	MT-TF	PRTN3	LYST	SPG11	HLA-DPA1	COX20	AMACR	CLCN6	GJC2	HLA-DPB1	DGUOK	GAN	ATXN8OS	MT-CO3	PEX6	GJB1	SHMT2	MT-CO2	PLEKHG4	PEX1	RAB7A	MT-TL1	PNPT1	CACNA1A	MT-ND4	NEFH	COMP	MT-TQ	DHX16	TTPA	PTPN22
HP_PERIPHERAL_AXONAL_DEGENERATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_AXONAL_DEGENERATION	SPG7	COA7	MT-ND6	POLG	BIN1	MT-TE	SPTLC1	PDX1	BRAF	AIFM1	SETX	STAT3	XRCC4	PIEZO2	INF2	RRM2B	INS	LMNA	IFRD1	FXN	FLVCR1	TYROBP	TFG	PLD3	TRAPPC11	WARS1	HINT1	WDR48	KARS1	MPZ	ABCA1	IGHMBP2	LIG3	NAGA	MT-TW	MORC2	NEFL	ATAD3A	KLHL9	GCK	HNRNPA2B1	CTSD	TWNK	MT-TH	KIF1A	CTDP1	FBLN5	MYF6	CCT5	TRIP4	ERBB2	TBCD	CYP27A1	LAMA2	MT-CO1	VCP	LRSAM1	MTMR14	MT-ND1	TBCE	NEMF	SLC12A6	GDAP1	ATP13A2	AAAS	DARS2	PLA2G6	MFN2	GLE1	SPTLC2	JPH1	HK1	PRICKLE1	SH3TC2	SERPING1	TXN2	MME	WFS1	UBTF	APTX	MT-TF	AFG3L2	C19orf12	GJC2	GAN	MT-CO3	FIG4	UBQLN2	MTRFR	SLC25A4	RETREG1	MT-CO2	POLG2	GNB2	RAB7A	GBA2	XK	MT-TL1	TYMP	ELOVL5	GNB4	NEFH	ZFYVE26	TTC19	AMPD2	ADPRS	ALDH18A1	NDRG1	ATXN3	TDP1	PLOD1	SPG11	GBF1	DNM2	BAG3	IBA57	HMBS	CYP2U1	ELOVL4	PNPLA6	YARS1	FLRT1	NGLY1	SPTBN4	ATL3	MT-TS2	KLC2	SLC25A46	KIF5A	MARS1	OPA1	PIGB	ATL1	COASY	DGUOK	HARS1	KCNK9	PSAP	MICU1	PEX10	MT-ND5	TK2	SYNE1	HSPB1	SLC25A19	ACOX1	FGF14	ERCC8	KRAS	KCNJ10	HNRNPA1	HSPB8	ABCC8	VPS13A	ABCD1	VPS13D	GMPPA	VPS41	ASCC1	CAPN1	DCAF8	VWA1	AARS1	GBE1	SLC25A21	SEPTIN9	KIF1B	COX20	MOCS2	DYNC1H1	GJB1	TTR	SHMT2	SURF1	PLEKHG4	COG8	ERCC6	TUBB3	MCM3AP	TRPV4	MT-ATP6	TRIM2	MOCS1	MT-ND4	KCNJ11	MPV17	RYR1	RFC1	MT-TQ	DHX16	DDHD1
HP_ABNORMAL_THORAX_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_THORAX_MORPHOLOGY	NTNG2	MYO9A	AGRN	ZEB2	PYROXD1	DDRGK1	NALCN	COL2A1	GATA6	XYLT1	MAT2A	MGAT2	SALL4	RRAS	GPC3	AGA	CDC42	RIT1	RYR1	NKX3-2	KLHL41	CEP120	MYF5	HSPG2	CHRNE	SPRTN	PIEZO2	FBN2	CYP21A2	CDH2	SOS1	MED27	EIF4H	IFT140	PIGW	RUNX2	ZMPSTE24	ERCC3	SIX3	MMP13	EMD	BIN1	RBM10	LIFR	ODC1	PTCH1	MYLPF	DYNC2H1	IRF6	SLC2A10	WDR19	TWIST1	MYF6	CTSK	CHRNG	RSPRY1	TBCD	EVC2	PTEN	NEFL	C19orf12	COLQ	LBR	COL1A2	NADSYN1	TGFBR2	EMC10	LMNA	CILK1	MARS2	FRAS1	ERCC2	ATP7A	SC5D	SMC3	SEMA3E	CHST3	PTPN23	TRIP12	SDHD	TPM3	HPGD	B4GALT7	SOX2	FKBP10	SMARCAL1	AEBP1	CPLX1	GFPT1	SDHC	SGCG	EFEMP2	RMRP	PHF8	COG4	SKI	KY	RPL27	TGFBR1	TONSL	WNT7A	NODAL	FGFR3	STIL	HRAS	DYNC2LI1	FBXW11	WDFY3	SGSH	PIK3C2A	ALMS1	FAM20C	SLC34A3	LHX3	BRAF	RPL35A	GJA1	SFTPB	IL1RN	DYNC2I1	TCF20	RPS26	NIPBL	CD96	FLNA	FUCA1	IFT81	SOX5	HDAC6	TARS1	FBLN5	TELO2	SMS	RPS15A	WDR35	IFT43	JAG1	HYOU1	CSPP1	FLI1	PLOD2	BCORL1	RLIM	GNE	ZDHHC9	METTL27	RNU4ATAC	AKT1	CREBBP	GNPTAB	TRIP11	BCOR	COL11A2	PIGN	MYH11	TGIF1	RPS6KA3	TRIP4	FHL1	TMCO1	DYRK1A	MYT1L	USF3	FIG4	COL12A1	PLOD1	IDS	MESP2	RPL15	PDHX	NEDD4L	DNM2	RTL1	RAD21	PLAA	CHRM3	PIK3R2	COL13A1	GALNS	GLI3	FGFR2	ELN	VPS13B	TENT5A	TBX1	FERMT1	C2CD3	GMNN	DHODH	MAN2B1	DACT1	FAM111A	KRAS	NGLY1	FARSB	TDGF1	MYPN	ATAD3A	KMT2E	ADAMTS3	BMP1	UBE3B	SIK3	MGP	RIPPLY2	SLC26A2	FKBP6	PAM16	BRD4	MECP2	PIGL	HPDL	SRP54	CSGALNACT1	GDF3	PIK3CA	TGDS	ERLIN1	KLLN	BUD23	DPAGT1	DNAJC30	TNPO3	CHRND	TCF7L2	SLC34A1	PUS7	LGI4	SNX10	DISP1	KRT5	IGBP1	SYNCRIP	SOX9	LRP5	VPS37D	SMAD4	SLC16A2	GUSB	VWA1	TAPT1	MEG3	AGO2	SMAD2	PPP1CB	IGF1R	RPS19	FGFR1	GBA	PTDSS1	HACD1	NOG	CBS	CCDC8	PIGT	DNAJC21	TFE3	EIF2AK3	SALL1	ADA	PIGU	ACAN	SHH	MYLK	ACTA1	EP300	KLHL40	TRPV4	LMX1B	ADGRG1	SPTBN1	NF1	MESD	COL6A1	GPX4	MAPRE2	AR	TAF1	PIGQ	ORC6	HEY2	MSX2	SEPTIN9	PAX3	KAT8	IFT172	KCNQ1OT1	SETD1A	MET	KIAA0753	PYCR1	SOST	GNB1	ACP5	PORCN	LRP4	PYCR2	SERPINH1	KCNJ2	COL1A1	PTPN11	TNFRSF11A	CANT1	KDM6B	ORC1	PIGG	EFL1	TPM2	PROKR2	HDAC8	ORC4	FLNB	IFT122	RIPK4	MTOR	VCP	DONSON	KDM4B	ASAH1	DOK7	RAF1	CTBP1	MBTPS2	SPRED1	MEGF8	MATN3	GLB1	KBTBD13	ANTXR1	MTM1	ZMIZ1	BICD2	FMR1	FGD1	GAS1	MAN1B1	SCN4A	RPS28	PRKCZ	NEB	EXT1	TBX3	AMER1	RPL35	IDUA	HES7	CYP27A1	LZTR1	RIN2	NOTCH3	ABCC9	RPL5	SCUBE3	PPP2R1A	TNRC6B	MTMR14	ACTG2	ALPL	VDR	UFD1	GORAB	SEC24D	CCBE1	SGCB	DYNC2I2	ARID2	SYT2	VANGL1	PACS1	PDGFRB	HIRA	TRAPPC2	MME	KCNAB2	PPP1R15B	INPPL1	CHAT	IHH	SF3B4	CBL	COG1	NUP107	MUSK	WASHC5	ARFGEF2	CLCN7	OCRL	FBN1	PIGS	DSE	ACTL6A	FN1	CHRNA1	MSTO1	CAPN3	VPS37A	TNNT1	CUL7	HERC1	SETBP1	PDPN	MAP3K7	ALG12	HGSNAT	GSC	NSUN2	TNFRSF11B	MYL2	GDF6	TGFB3	COL3A1	LEMD3	NRAS	SOS2	SEC24C	FGF8	ITCH	MAPK1	ARF1	SNRPB	TRPV6	CDC45	HS2ST1	ANKRD17	MYH3	APC2	AFF3	POR	SRCAP	MBTPS1	GAD1	TMEM43	SLC35D1	G6PC3	BAP1	SATB1	RSPO2	SPEN	KIAA0586	MAP2K1	VAMP1	ANKRD11	MEGF10	TBX6	FOXF1	NEK9	DYM	KMT2A	PGAP3	MAP2K2	TUBB	DLL3	PCYT1A	DVL3	SMCHD1	HBA2	BAZ1B	SMO	EBP	MIR140	INPP5K	RRAS2	ERMARD	LTBP2	MRAS	CUL4B	CRTAP	ENPP1	PRKG2	SNX14	SIN3A	ATP6V0A2	ALDH3A2	ZFPM2	SELENON	CCDC22	SEC23A	SVBP	PCGF2	POMT2	KCNJ8	TTN	TCIRG1	DLK1	MYH7	CHST14	MED12L	SGCD	INTS1	WASF1	NFIX	GPC4	PPP3CA	RPL31	FOXH1	ALG2	KIF7	MED12	SON	DLG3	RPS29	B3GLCT	RPL11	MAP1B	AK9	NEK1	TSR2	RREB1	CLIP2	EXTL3	SH3PXD2B	GTF2IRD1	RBM8A	OTUD6B	RET	ADAMTSL2	REST	SFTPC	WDR81	COMT	EXOC6B	PRKACB	OPA1	CDC6	TRMT1	GATA1	SFRP4	KANSL1	DNM1L	MAMLD1	GTF2I	NCF1	ARSL	DYSF	ROR2	EYA1	DOCK3	ALDH18A1	TOR1A	NELFA	RPL18	TRIO	INTU	MPLKIP	PEX5	SLC25A1	LETM1	GNPTG	PTPN22	ACTB	LOX	GLE1	EXT2	DDR2	OBSL1	GTF2E2	ACTL6B	CHD7	SYNE2	ATG7	COL6A2	LAMA2	COL5A2	DPYSL5	SMAD3	PTCH2	ERF	CHD4	SLC12A2	TBCK	ITGA7	CA2	KIF1B	ABCC6	NAGLU	RECQL4	SBDS	EFNB1	MEOX1	LMOD3	MAPK8IP3	KCNMA1	SLC10A7	MTX2	BCL7B	COL5A1	MYOD1	TGFB2	ABL1	BPTF	RPS10	NEPRO	SLC17A5	MTRFR	GPKOW	CHRNB1	MED25	CCN6	PRDM16	ZIC2	DES	NARS1	MAP3K20	MFAP5	ARID1B	NXN	SLC2A1	RAPSN	PRNP	IFT52	NSD2	COL11A1	CCDC32	FAT4	DVL1	SMC1A	IGF2	HBA1	ATP6V1B2	ALG14	IKBKG	ASXL1	FBXL3	RERE	POLR2A	LONP1	SPEG	KYNU	TMEM251	AP1G1	SIL1	RAB3GAP2	RFC2	IARS2	PIEZO1	UBR7	PRKG1	LIG4	SIM1	ABCA3	PTPN2	BUB1B	SGCA	PRR12	BICRA	SPRED2	SOX10	SLC5A7	IRX5	GRIA4	ATR	PGAP2	XYLT2	CRPPA	PTH1R	IFT80	RBBP8	PHEX	CYP2R1	PI4KA	TK2	COL6A3	ZBTB20	BMPER	NFASC	EVC	BMPR1A	PPIB	RPS24	HNRNPH2	CDT1	MAF	FKTN	WNT5A	CFL2	ADA2	PEX1	HHAT	ANKRD55	TMTC3	IL2RA	RNF2	TBCE	TRPS1	WNT4	PTF1A	FUZ	SYNE1	CFAP410	NTNG1	ARSB	CNOT3	MYSM1	IL2RB	HOXD13	WBP11	TBX2	TTC21B	SRD5A3	GP1BB	CENPJ	PQBP1	MOGS	MLXIPL	SUFU	GDF11	SRY	POLG	FRG1	PLEKHM1	SRPX2	CDON	TBC1D24	APC	PSMD12	KCTD1	MED13	SPECC1L	LIMK1	NPR2	H19	VPS33A	CLCN3	PSMB8	RPS17	RPS7	TMEM231	VAC14	WNT1	PUF60	BGN	HSD17B4	POP1	SIX6	CEP152	UBE4B	BMP2	WRN	ARVCF	ELMO2	GLI1	SNAP25	CDH11	NOTCH2	PAX7	KAT6A	CASR	HUWE1	IDH1	RPS27	UBTF	NSD1	TANC2	LRIF1	FZD2	LAMB2	DDX6	BCAS3	SETD2	SHOC2	TBX15	MADD	RPS20	PALS1	LFNG	PIGV	B3GALT6	PAX1	CD247	TUBB3	SP7	DYNLT2B	NPR3	MYBPC1	MMP23B	POLR3A	UPF3B	TNFSF11	ANO5	GTF2H5	SQSTM1	FREM2	GNB2	NAA10	SLC37A4	TBL2	IFT57	NSDHL	WNT3	COMP	PRKACA	RASA2	SEC23B	COL10A1	LRRK1	DHCR7	DCHS1	FGFRL1	GNS	ADAMTS10	CYP27B1	ANK1	CCDC47	TMEM270	P3H1	AIFM1	HNRNPK	HTT	B3GAT3	OFD1	KDM5C	RNF135	ACTA2	STX1A	RAB33B	SCARF2	PLCB3	GMPPB	GZF1	RNF113A	DNMT3A	SLC18A3	CASZ1	FAM149B1	CHST11	NEU1	KDELR2	ARL3	LMBRD2	RPL26	P4HB	HINT1	SLC9A6	POGLUT1	ITGA3	GATA4	JMJD1C	GTF2IRD2	GLI2	MYH2	DLL1	SH2B1	PIGO	TCTN3	DMD	NKAP	LUZP1	BANF1	TRMT10A	KIF22	FOXE3	MMP2	IPO8	CTNS	ZC4H2	EZH2	ALX4	JAG2	GABRD	TBX5	STAT4	MMP14	PIGY	CREB3L1	UBA1	LEMD2	PPP1R21	SDHB	GDAP1	PCNT	TRAPPC4	RTTN	JARID2
HP_ABNORMAL_STERNUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_STERNUM_MORPHOLOGY	RAF1	TGFB3	TGFBR1	MYO9A	AGRN	ZEB2	PYROXD1	NALCN	COL2A1	BRAF	MAT2A	MGAT2	RRAS	GBA	KANSL1	GPC3	AGA	CDC42	RIT1	GTF2I	KLHL41	MYF5	NCF1	HSPG2	SPRTN	ROR2	PIEZO2	FBN2	ALDH18A1	SOS1	EIF4H	IFT140	PIGW	TRIO	AMER1	GPC4	ATAD3A	EMD	RBM10	SLC25A1	MSTO1	GNPTG	LOX	SLC2A10	WDR19	RRAS2	RSPRY1	TBCD	DDR2	PTEN	OBSL1	SYNE2	COL1A2	TGFBR2	LMNA	ATG7	MARS2	SMAD3	FRAS1	PTCH2	ATP7A	ERF	SMC3	CHST3	SLC12A2	SDHD	TPM3	TBCK	ITGA7	HPGD	CA2	PTPN11	B4GALT7	EFNB1	LMOD3	WDR35	MRAS	SDHC	EFEMP2	PPP2R1A	BCL7B	COG4	SKI	MYH3	COL5A1	MYOD1	WNT7A	HRAS	TGFB2	FAM20C	SLC34A3	ABL1	MED12	NIPBL	CD96	NEPRO	FLNA	SOX5	MED25	FBLN5	TELO2	SMS	HYOU1	NARS1	MAP3K20	MFAP5	ARID1B	PLOD2	NXN	ZDHHC9	METTL27	AKT1	NSD2	CREBBP	ACTA1	BCOR	MYH11	RPS6KA3	TRIP4	DVL1	DYRK1A	TNNT1	SMC1A	USF3	FIG4	HBA1	TPM2	PLOD1	FGD1	PDHX	MBTPS2	ASXL1	RTL1	RAD21	PLAA	CHRM3	POLR2A	COL13A1	DYNC2I1	EXTL3	GALNS	LONP1	ELN	TNFRSF11B	AP1G1	SIL1	DHODH	RAB3GAP2	MAN2B1	RFC2	DACT1	KRAS	FKBP10	FARSB	IFT172	PIEZO1	PRKG1	LIG4	BMP1	BUB1B	SIK3	PRR12	BICRA	FKBP6	SPRED2	SOX10	BRD4	SLC5A7	IRX5	MECP2	DYNC2H1	PGAP2	CSGALNACT1	PIK3CA	TGDS	VPS13B	TRPV4	PHEX	CYP2R1	FGFR3	KLLN	BUD23	PI4KA	ZBTB20	DNAJC30	SLC34A1	EVC	PPIB	KRT5	IGBP1	MEG3	HNRNPH2	COL11A2	VPS37D	MAF	SMAD4	SLC16A2	FKTN	WNT5A	CFL2	PPP1CB	PTCH1	LMX1B	SMAD2	IGF1R	HACD1	NOG	CBS	PIGT	FN1	TRPS1	PTF1A	PIGU	SYNE1	CHRNG	MYLK	ARSB	EP300	DYM	ADGRG1	DLK1	GATA6	MME	MAPRE2	NF1	TAF1	PIGQ	ORC6	HEY2	WBP11	MET	PYCR1	RIN2	GNB1	AEBP1	PQBP1	ACP5	NFIX	PYCR2	FBN1	NOTCH3	KDM6B	MLXIPL	SUFU	GDF11	SRY	PROKR2	HDAC8	FLNB	SOX9	IFT122	NRAS	PLEKHM1	SRPX2	INPPL1	ASAH1	ABCC6	CTBP1	SPECC1L	LIMK1	SPRED1	MEGF8	MATN3	GLB1	VPS33A	TMEM231	CEP120	VAC14	MYPN	ZMIZ1	FMR1	PUF60	BGN	HSD17B4	XYLT1	MAN1B1	TBX3	EXOC6B	LZTR1	BMP2	PIGL	ELMO2	SNAP25	CDH11	ALPL	NOTCH2	KAT6A	VDR	GORAB	HUWE1	SEC24D	CCBE1	UBTF	NSD1	ARID2	ORC1	SYT2	FZD2	PACS1	SETD2	PPP1R15B	SHOC2	CHAT	IHH	CBL	PIGV	NUP107	FHL1	PIGS	DSE	SP7	NPR3	VPS37A	GUSB	CUL7	UPF3B	MAP3K7	B3GALT6	NSUN2	MYL2	NAA10	COL3A1	SLC37A4	KIF7	COL12A1	SOS2	TBL2	ITCH	NEB	IFT43	RASA2	APC2	SEC23B	MBTPS1	TMEM43	CPLX1	FGFRL1	G6PC3	CYP27B1	TTC21B	CCDC47	MAP2K1	MAP2K2	TMEM270	VAMP1	MEGF10	TBX6	AIFM1	ATP6V0A2	KMT2A	HNRNPK	TRIP11	B3GAT3	PGAP3	PIK3C2A	KDM5C	ACTB	RNF135	TUBB	ACTA2	STX1A	RAB33B	SCARF2	DVL3	HBA2	GZF1	BAZ1B	SLC18A3	CHST14	HS2ST1	FAM149B1	CHST11	NEU1	INPP5K	KDELR2	ARL3	EVC2	LTBP2	LBR	RMRP	SLC9A6	CRTAP	PRKG2	SNX14	ZFPM2	SELENON	GTF2IRD2	DYNC2LI1	PCGF2	MTX2	PIGO	TCTN3	TNFRSF11A	LETM1	NKAP	TRMT10A	IFT52	INTS1	DYNC2I2	FOXE3	IPO8	CTNS	SETBP1	IFT80	TBX5	B3GLCT	PIGY	NEK1	PPP1R21	SDHB	CLIP2	SH3PXD2B	GTF2IRD1	RET	ADAMTSL2	REST
HP_PECTUS_EXCAVATUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PECTUS_EXCAVATUM	KDM6B	MLXIPL	TGFB3	GDF11	SRY	PROKR2	ZEB2	HDAC8	PYROXD1	KRAS	FLNB	COL2A1	IGBP1	ROR2	IFT122	BRAF	MGAT2	RRAS	AKT1	GBA	NRAS	KANSL1	GPC3	LMNA	RIT1	SRPX2	INPPL1	GTF2I	KLHL41	MYF5	NCF1	RAF1	HSPG2	SPRTN	PIEZO2	SPECC1L	LIMK1	MEGF8	MATN3	ALDH18A1	SOS1	EIF4H	PIGW	TRIO	TMEM231	AMER1	CHRM3	MYPN	ZMIZ1	FMR1	PUF60	GPC4	HSD17B4	FGD1	EMD	XYLT1	RBM10	MSTO1	SLC16A2	TPM2	LOX	SLC2A10	WDR19	NF1	TPM3	RRAS2	TBCD	LZTR1	DDR2	PTEN	PIGL	TGFBR2	PPP2R1A	SYNE2	COL1A2	CBS	CDH11	ATG7	KAT6A	HUWE1	VPS33A	SEC24D	CCBE1	SMAD3	NSD1	ATP7A	ERF	ARID2	SMC3	PIGT	SDHD	TBCK	ITGA7	HPGD	CA2	PTPN11	FZD2	PACS1	NOTCH3	EFNB1	SETD2	PPP1R15B	LMOD3	WDR35	IHH	MRAS	SDHC	EFEMP2	CBL	BMP2	PIGV	BCL7B	FBN1	COG4	SKI	NUP107	MYH3	FHL1	COL5A1	MYOD1	SMS	FAM20C	NPR3	ABL1	SHOC2	MED12	CUL7	NEPRO	UPF3B	FLNA	DYRK1A	MAP3K7	B3GALT6	FBLN5	NSUN2	MYL2	NAA10	COL3A1	SLC37A4	NARS1	MAP3K20	MFAP5	NXN	KIF7	COL12A1	SOS2	ZDHHC9	METTL27	TBL2	ITCH	CREBBP	ACTA1	NEB	BCOR	RPS6KA3	TRIP4	DVL1	SMC1A	USF3	IFT43	RTL1	RASA2	APC2	SEC23B	PLOD1	PDHX	MBTPS2	ASXL1	TMEM43	RAD21	IGF1R	POLR2A	EXTL3	NIPBL	NFIX	ELN	CCDC47	MAP2K1	TMEM270	AP1G1	DHODH	RAB3GAP2	MEGF10	RFC2	FARSB	ATP6V0A2	KMT2A	PIEZO1	HNRNPK	LIG4	PGAP3	SIK3	PRR12	KDM5C	ACTB	BICRA	FKBP6	ZBTB20	SPRED2	SOX10	BRD4	TUBB	STX1A	IRX5	SCARF2	MECP2	DVL3	PGAP2	BAZ1B	CSGALNACT1	MEG3	PIK3CA	TGDS	VPS13B	MAN2B1	HS2ST1	CHST11	FGFR3	KDELR2	KLLN	BUD23	LTBP2	PI4KA	SLC9A6	DNAJC30	CRTAP	SELENON	CD96	GTF2IRD2	PPIB	PCGF2	MTX2	COL11A2	PIGO	VPS37D	MAF	TCTN3	FKTN	WNT5A	CFL2	PPP1CB	DLK1	NKAP	LMX1B	CHST14	PTCH1	HACD1	TRMT10A	NOG	IFT52	TGFBR1	INTS1	MAP2K2	PIGU	IPO8	SYNE1	CHRNG	EP300	ADGRG1	TELO2	TBX5	MAPRE2	B3GLCT	PIGY	TAF1	PIGQ	WBP11	SDHB	CLIP2	MET	SH3PXD2B	GTF2IRD1	GNB1	RET	AEBP1	PQBP1	ADAMTSL2
HP_PECTUS_CARINATUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PECTUS_CARINATUM	TGFB3	MYO9A	AGRN	ZEB2	RAD21	KRAS	NALCN	FLNB	COL2A1	BRAF	RRAS	KANSL1	GPC3	AGA	PLEKHM1	RIT1	RAF1	HSPG2	ROR2	PIEZO2	FBN2	MEGF8	GLB1	VPS33A	CHRM3	GPC4	ATAD3A	BGN	XYLT1	MAN1B1	SLC25A1	GNPTG	TBX3	SLC2A10	NF1	EXOC6B	TBCD	LZTR1	BMP2	OBSL1	TGFBR2	SNAP25	CBS	NOTCH2	GORAB	MARS2	SMAD3	UBTF	CHST3	ORC1	SLC12A2	SYT2	PTPN11	FZD2	B4GALT7	MME	CHAT	IHH	MRAS	FBN1	COG4	SKI	SMS	WNT7A	PIGS	HRAS	SP7	SOS1	FN1	VPS37A	GUSB	TNNT1	UPF3B	SOX5	MED25	ZDHHC9	TELO2	SLC37A4	HYOU1	MFAP5	PLOD2	NXN	NRAS	SOS2	B3GALT6	RPS6KA3	AP1G1	DVL1	DYM	HBA1	ATP7A	RASA2	MBTPS2	MBTPS1	PLAA	COL13A1	G6PC3	TNFRSF11B	SIL1	VAMP1	RAB3GAP2	MAN2B1	TBX6	FKBP10	TRIP11	B3GAT3	BMP1	ACTB	RNF135	SPRED2	MYH3	SLC5A7	RAB33B	DVL3	HBA2	GZF1	SLC18A3	TRPV4	FAM149B1	TGDS	NEU1	INPP5K	ARL3	RRAS2	EVC2	RMRP	SNX14	EVC	PPIB	KRT5	PCGF2	HNRNPH2	COL11A2	WNT5A	TNFRSF11A	PPP1CB	MAP2K1	NKAP	TRPS1	TGFBR1	PTF1A	IPO8	KIF7	NEK1	PPP1R21	CBL	PYCR1	ACP5	PYCR2
HP_ABNORMALITY_OF_THE_BREAST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_BREAST	RERE	FASLG	AR	MECP2	COLEC10	ZEB2	TP63	CDC6	EED	NQO2	CDKN2B	TWIST2	RRAS	DPM1	GPC3	LEPR	CKAP2L	CDK4	RIT1	PDE8B	RAD51D	KDM1A	YY1	TP53	CYP21A2	NBN	CDH2	SOS1	HDAC4	PIGW	NELFA	CDKN1A	ERCC3	AMER1	AIP	GPC4	INTU	MPLKIP	MAB21L1	LETM1	MAN1B1	BAP1	MSH6	ARHGAP31	NDNF	CYP19A1	HSD3B2	ATR	CHRNG	KANSL1	EBF3	XRCC3	CHD7	CASP10	PACS1	PTEN	SLC29A3	GTF2E2	WT1	ESR1	FGFR1	BARD1	DEF6	TOGARAM1	CILK1	FRAS1	DUSP6	SMC3	PHB1	LHB	SLC25A24	GNRHR	SDHD	WAC	KATNB1	CYP17A1	BRCA2	DHODH	EDA	MSH2	BNC1	APC	EFNB1	CPLX1	FREM2	MRAS	SDHC	RAD54L	LEP	MTX2	ALG3	CHEK2	HS6ST1	HPGD	IBA57	BRCA1	WNT7A	SPTBN1	KNSTRN	MLH1	DDX6	MDH2	ALMS1	TCF20	OTX2	PMM2	HSD17B3	NIPBL	FGF17	CASP8	PRKACA	NSMF	PEX3	PSMC3IP	OPCML	TARS1	FLRT3	SMS	PIK3CA	AKT2	PRLR	MEFV	SEMA3E	PRKAR1A	CSPP1	KCTD1	TERF2IP	FGF8	SLCO2A1	MDM2	ACD	AKT1	NR5A1	SOX10	PIGN	NTHL1	TMCO1	TBL1XR1	ALG9	SMC1A	USF3	FIG4	RELA	IKBKG	ERBB2	TACR3	RAD21	VAMP7	SPIDR	INSR	ZFPM2	DCC	NR0B1	POLD1	GNAS	TRRAP	SMARCA2	ASXL1	SMCHD1	USP9X	CDH1	GMNN	RAB3GAP2	RABL3	COX7B	KRAS	LHX4	PNPLA6	IDH1	SLC25A46	PROKR2	COL14A1	BICRA	TNRC6B	SPRED2	POT1	BRD4	SMPD4	RAB18	PIGL	PGAP2	CTNNB1	B4GALT1	CDH23	BLM	CCDC141	SPRY4	CTBP1	WWOX	KLLN	WDR19	AAGAB	ALG11	WDR37	CYP11A1	REV3L	ZBTB20	KISS1R	HDAC8	MADD	GNE	RAD51	FAS	CDT1	ZFTA	POC1A	PPP1CB	PIK3CD	IGF1R	TCF4	MASP1	PHF6	PIGT	CYP11B1	KISS1	TAC3	CDKN2A	B3GLCT	CYB5A	ACOX1	DLK1	PROK2	UBE2A	MAPRE2	IDH2	ALG14	COQ8A	ORC6	PLXND1	HNRNPK	RNF216	GRIP1	AFF4	WASF1	RFT1	BRAF	EDARADD	AMMECR1	PTPN11	WDR11	KDM6B	ORC1	PIGG	STK11	GDF11	SRY	BMP15	ORC4	ABCD4	RIPK4	IRF4	ALG8	POLE	CPE	PRKCD	SLC6A17	SOX9	RAF1	MEGF8	FSHB	RB1CC1	GNPTAB	TFAP2A	PSMB8	NUP188	LAS1L	VAC14	ALG12	TBX3	PTPRF	FEZF1	ANTXR1	LZTR1	NSD2	ARCN1	WRN	CERT1	SLC22A18	NECTIN1	FOXA2	CDH11	KAT6A	CUL4B	DPAGT1	PPM1D	PRKN	HESX1	PALB2	NONO	TFAP2B	SEMA3A	SMAD4	CBL	PIGV	WASHC5	COG1	ERCC6	POLR3A	NIN	MRE11	KIF15	NF1	PALLD	IL17RD	GTF2H5	MGAT2	GNB2	NUP107	ANOS1	UBR1	NRAS	SOS2	PORCN	FSHR	GNRH1	ERCC2	FGFR2	SRA1	RSPO1	MRPS22	WNT3	CDC45	TRAF7	EXOC2	RTL1	RASA2	MAF	SEC23B	ADNP	DHCR7	RNF43	RAD51C	AXL	PROP1	KDM6A	DYRK1A	RSPO2	KIAA0586	CCDC47	GATA4	POLR3H	MAP3K1	RASGRP1	PPP2R5D	ATM	SOX6	BRIP1	OFD1	PGAP3	CPT2	CHST3	ACTB	KIFBP	TUBB	COLEC11	CDKN1B	POU1F1	TWIST1	MEG3	FMR1	RNF113A	HS2ST1	RRAS2	RBM28	ERMARD	ITGA3	GPR101	ARHGEF2	MEN1	PDE11A	CCDC22	GLI2	DMRT3	PIGO	SOX3	LMNA	ASXL3	SLC35A2	MGMT	ATN1	EZH2	HFE	SETBP1	DHX37	MITF	RAD50	PIGY	SH3PXD2B	HMMR	SDHB	COG7	CDKN2C	MC1R	NFIX	TERT	AXIN2	ZC4H2
HP_GYNECOMASTIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GYNECOMASTIA	CYP17A1	ALMS1	SEC23B	AR	SRY	MECP2	TACR3	GNRHR	VAMP7	AXL	FGF17	ZFPM2	AKT1	DCC	NR0B1	CPE	LEPR	SMCHD1	GATA4	SOX9	MAP3K1	PHF6	SPRY4	PNPLA6	CYP21A2	HESX1	NR5A1	PSMB8	PROKR2	LAS1L	ZBTB20	CDH23	HSD17B3	FGFR1	NDNF	CYP19A1	HSD3B2	FEZF1	FMR1	PIK3CA	CHD7	FGF8	WDR11	SLC29A3	CCDC141	WT1	WWOX	KLLN	HS6ST1	RBM28	CUL4B	ERMARD	GNRH1	CYP11A1	ITGA3	DUSP6	KISS1R	LHB	HDAC8	SDHD	PROK2	NSMF	DMRT3	PTEN	SEMA3A	SDHC	LEP	HPGD	SPTBN1	CYP11B1	AIP	ANOS1	POLR3A	KISS1	TAC3	HFE	IL17RD	STK11	CYB5A	FLRT3	MEN1	DHX37	AKT2	SEMA3E	PRKAR1A	COQ8A	SH3PXD2B	SDHB	RNF216	SLCO2A1	SOX10	SRA1	RSPO1	AFF4	USF3
HP_ABNORMAL_RIB_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RIB_MORPHOLOGY	SMAD4	EXOC6B	BIN1	CDC6	DDRGK1	GATA6	GPC3	ABCC9	MAMLD1	RBM8A	NKX3-2	CEP120	MYF5	HSPG2	ARSL	EBP	ROR2	IFT140	TOR1A	NELFA	RUNX2	AMER1	SIX3	MMP13	GPC4	INTU	LIFR	ODC1	LETM1	PTCH1	DYNC2H1	IRF6	MYF6	EXT2	CHRNG	RRAS2	GDF6	DDR2	OBSL1	LBR	CHD7	SLC26A2	TBX6	PTCH2	SEMA3E	CHST3	TBCK	CA2	PTPN11	NAGLU	SOX2	RECQL4	SBDS	MEOX1	CPLX1	WDR35	RMRP	SKI	MYH3	KIAA0586	WNT7A	NODAL	FGFR3	STIL	SGSH	SLC34A3	IL1RN	DYNC2I1	NIPBL	FLNA	IFT81	POR	HDAC6	PRDM16	ZIC2	JAG1	CSPP1	NXN	RNU4ATAC	COL1A2	NSD2	GNPTAB	TRIP11	GLE1	COL11A2	TGIF1	COL11A1	TMCO1	SNRPB	FIG4	ATP7A	ATP6V1B2	IKBKG	IDS	MESP2	DNM2	RTL1	CHRM3	RERE	GALNS	GLI3	KLHL41	TENT5A	FERMT1	C2CD3	GMNN	FAM111A	IFT172	TDGF1	INPPL1	MGP	RIPPLY2	PAM16	ATR	GDF3	RPS19	PTH1R	SON	PHEX	CYP2R1	CTBP1	BMPER	NFASC	CHRND	SLC34A1	DLL3	FLNB	EVC	NEB	FLI1	SNX10	PPIB	DISP1	MEG3	SOX9	TAPT1	LMX1B	NOG	CCDC8	DNAJC21	TBCE	TFE3	SALL1	ADA	FUZ	CFAP410	SHH	ARSB	KLHL40	DLK1	GPX4	TRPV4	CHRNA1	ORC6	TTC21B	CDT1	CENPJ	PORCN	LRP4	SERPINH1	COL1A1	TNFRSF11A	ORC1	PIGG	LMOD3	SUFU	GDF11	DONSON	ORC4	PLOD1	CDON	TBC1D24	APC	XYLT1	MBTPS2	GLB1	COL2A1	MTM1	VAC14	WNT1	PUF60	BGN	GAS1	PRKCZ	EXT1	ZMPSTE24	SIX6	IDUA	CEP152	UBE4B	HES7	SCUBE3	MTMR14	HOXD13	ALPL	VDR	LRP5	SEC24D	DYNC2I2	VANGL1	LMNA	KCNAB2	IHH	COG1	BMP2	LFNG	FBN1	B3GALT6	WASHC5	CLCN7	OCRL	MMP23B	POLR3A	IFT43	SRP54	CUL7	SETBP1	SOST	TNFSF11	PDPN	ALG12	HGSNAT	DACT1	MATN3	MUSK	PTDSS1	FGF8	IFT57	NSDHL	WNT3	TRPV6	COMP	CDC45	DYM	MAF	AFF3	COL10A1	DHCR7	FGFRL1	SLC35D1	GNS	SPEN	ADAMTS10	CYP27B1	ANK1	RSPO2	ANKRD11	DYNC2LI1	FOXF1	NEK9	PAX3	P3H1	AIFM1	KMT2A	B3GAT3	ACTB	SCARF2	PCYT1A	PLCB3	SRCAP	DNMT3A	ACTA1	SMO	MAN2B1	CASZ1	MAP3K7	EVC2	ERMARD	P4HB	CRTAP	PRKG2	IFT122	CCDC22	GLI2	MTX2	DLL1	SH2B1	KCNJ8	TCIRG1	LUZP1	BANF1	CTNS	PPP3CA	EZH2	FOXH1	SF3B4	IFT80	GABRD	TBX5	CREB3L1	UBA1	NEK1	WDR19	RTTN	RYR1
HP_SHORT_RIBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_RIBS	TRIP11	EVC	RTL1	IFT122	ORC1	SUFU	DYNC2I1	RUNX2	COL11A1	GPX4	SLC35D1	DDRGK1	COL2A1	WDR35	IHH	GPC3	TAPT1	PTCH1	NKX3-2	KIAA0586	LMX1B	CEP120	C2CD3	MYF5	HSPG2	DYNC2LI1	FGFR3	INPPL1	DYNC2I2	COL11A2	IFT43	PTH1R	VAC14	CUL7	GPC4	EZH2	INTU	SLC26A2	IFT81	IFT140	PAM16	FLNA	ALG12	SETBP1	SF3B4	DYNC2H1	DLK1	PLCB3	CSPP1	MEG3	IFT80	UBA1	TRPV4	DDR2	ORC6	NEK1	PORCN	SMO	TTC21B	IFT172	ALPL	GNPTAB	EVC2	NSDHL	LBR	TRPV6	PTCH2	FIG4
HP_ABNORMALITY_OF_THE_DIAPHRAGM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_DIAPHRAGM	KCNA1	RSPO2	GPC3	MAF	PBX1	PIGG	LMOD3	DHCR7	HDAC8	ADAT3	KDM6A	RAD21	HCCS	GATA6	LONP1	COX7B	NIPBL	TRRAP	KLHL41	MCTP2	PCNA	DACT1	WT1	HDAC4	NELFA	B3GAT3	GPC4	RIPPLY2	LRP2	PIGN	BRD4	LETM1	NR2F2	IGHMBP2	ADGRG6	SLC2A10	KIF7	CHRNG	TRIP4	NDUFB11	EFNB1	NSD2	ACTA1	MTHFR	MESP2	GLI3	CTBP1	HOXD13	MAMLD1	MTM1	ZNF699	GATA4	TRAIP	SIN3A	ARID2	SMC3	CHST3	DLL3	MID1	NEB	ZFPM2	CD96	SMC1A	AR	VANGL2	PLOD3	SH2B1	RARB	CPLX1	EFEMP2	STRA6	HYLS1	KMT2D	RPS28	CHUK	MYOD1	HES7	KIAA0586	LFNG	ALG9	RPS26	ABL1	SEC31A	GDAP1	WNT4	KLHL40	KDM3B	FBLN5	RLIM	POGZ	GNB2	ARID1B	STAG2	NDUFAF5	GNE	PORCN	WNT3	MN1	DIS3L2	FLNA	DNAJC19	ASNS
HP_CONGENITAL_DIAPHRAGMATIC_HERNIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_DIAPHRAGMATIC_HERNIA	KCNA1	RSPO2	GPC3	MAF	PBX1	PIGG	DHCR7	HDAC8	ADAT3	KDM6A	RAD21	HCCS	GATA6	LONP1	COX7B	NIPBL	TRRAP	MCTP2	PCNA	DACT1	WT1	HDAC4	NELFA	B3GAT3	GPC4	RIPPLY2	LRP2	PIGN	BRD4	LETM1	NR2F2	SLC2A10	KIF7	CHRNG	NDUFB11	EFNB1	NSD2	MTHFR	MESP2	GLI3	CTBP1	HOXD13	MAMLD1	GATA4	TRAIP	SIN3A	SMC3	CHST3	DLL3	MID1	ZFPM2	CD96	SMC1A	AR	VANGL2	SH2B1	RARB	CPLX1	EFEMP2	STRA6	KMT2D	RPS28	CHUK	HES7	KIAA0586	LFNG	ALG9	RPS26	ABL1	SEC31A	WNT4	KDM3B	FBLN5	RLIM	POGZ	ARID1B	STAG2	NDUFAF5	PORCN	MN1	DIS3L2	FLNA
HP_ABNORMALITY_OF_THE_THYMUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_THYMUS	RAG1	NSMCE3	COMT	TBX1	VANGL2	PLXND1	HIRA	TTC7A	CDKN2B	SKIV2L	ERCC8	G6PC3	RORC	MEN1	POLR1D	IL2RG	NKX2-6	TP63	AK2	NEK9	DCLRE1C	PTEN	CDKN1A	TFAP2A	POLR1C	ADA	ANTXR2	TTC37	CDKN1B	EPG5	PEX5	ATM	ALG14	MTHFR	ARVCF	SEC24C	CHD7	RREB1	CDKN2C	POLR1B	WAS	WIPF1	GP1BB	UFD1	FRAS1	AKT1	MCM10	TCOF1	SEMA3E	JMJD1C	RAG2
HP_ABNORMAL_SCAPULA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SCAPULA_MORPHOLOGY	RSPO2	SUFU	TGFB3	GDF11	TPM2	POLG	OPA1	PYROXD1	SOX9	GATA1	RIPK4	CAPN3	VCP	DNM1L	FRG1	LMNA	FLNB	BRAF	RYR1	FIG4	HSPG2	DYSF	ALG2	EYA1	NPR2	CDH2	COL11A2	GNPTAB	RUNX2	PSMB8	RPL18	PAX3	RPS17	RPS7	COL12A1	KBTBD13	VAC14	BICD2	BIN1	RPS28	EXT1	TBX3	ACTB	RPL35	EXT2	COL2A1	GDF6	NEFL	C19orf12	OBSL1	COLQ	RPL5	SYNE2	COL6A2	EMD	TK2	PTCH2	RPS27	SGCB	MEOX1	ORC1	LRIF1	PTPN11	GPX4	LAMB2	EFNB1	TBX15	GFPT1	SGCG	RPS20	SF3B4	FHL1	PAX1	RPL27	FGFR3	RPL35A	MYBPC1	RPS10	RPS26	CUL7	SOST	ANO5	POR	SQSTM1	GSC	RPS15A	RAF1	LEMD3	GNE	COL11A1	TPM3	NSDHL	DYM	FLNA	ALG14	FBN1	TRIP11	RTL1	RPL15	NEB	TMEM43	SLC35D1	SPEG	TMEM251	CRPPA	ACTA1	MYPN	INPPL1	TTN	SGCA	PRR12	TMCO1	SCARF2	MYH7	SMCHD1	GMPPB	CSGALNACT1	MEG3	GDF3	COL3A1	RPL11	LBR	COL6A3	RPL26	DPAGT1	POGLUT1	TNPO3	ATP6V0A2	LGI4	RPS24	POMT2	KLHL41	MYH2	VWA1	PTCH1	ADA2	LMX1B	TRPS1	RPS19	FGFR1	CCDC8	SGCD	SYNE1	RPL31	TRPV4	MAP3K7	DLK1	TBX5	COL6A1	RPS29	TSR2	WBP11	TBX2	SEPTIN9	PCNT	WDR35	KCNJ2
HP_PRIMARY_AMENORRHEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMARY_AMENORRHEA	CYP17A1	POF1B	AR	SYCE1	PROKR2	BMP15	LHX4	HDAC8	NDN	FGF17	CPE	LEPR	SOX9	SNRPN	TACR3	MCM9	SPRY4	FSHB	DHH	WT1	GATA3	MSTO1	NDNF	NR5A1	LARS2	FEZF1	CHD7	PSMC3IP	WDR11	PROK2	FGFR1	GALT	CCDC141	DUSP6	SMC3	TP63	TWNK	EIF2B2	GNRHR	BNC1	SEMA3A	LEP	PPARG	HS6ST1	CDON	PCSK1	ESR1	GPR161	MKRN3	NIN	IL17RD	NSMF	MAGEL2	MCM8	POR	OCA2	FLRT3	TAC3	NUP107	SEMA3E	ANOS1	CLPP	FGF8	FSHR	GNRH1	NPAP1	SOX10	SRA1	MRPS22	PWAR1	SRY	SMC1A	ROBO1	EIF2B1	EIF2B4	SPIDR	STAG3	HSD17B4	RAD21	VAMP7	AXL	ZFPM2	DCC	NR0B1	NIPBL	GATA4	POLR3H	MAP3K1	HESX1	DHX37	EIF2B5	BMPR1B	SIM1	BRD4	FIGLA	CISD2	ERAL1	ITGA8	WWOX	CTDP1	GDF9	KISS1R	POLG	ESR2	DMRT3	HERC2	TRMT10A	PWRN1	SNORD115-1	WNT4	PEX6	KISS1	CYB5A	YARS1	PEX1	SOHLH1	CYP19A1	EIF2B3	SNORD116-1	SMCHD1	CAV1	NOBOX
HP_NEPHROLITHIASIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEPHROLITHIASIS	HOGA1	GANAB	CDC73	AGXT	MLXIPL	PRPS1	PREPL	GNA11	MYL9	SLC6A20	CDKN2B	SLC36A2	CTH	PLG	HPRT1	CDKN1C	PLCD1	GCM2	CASR	ELN	G6PC1	SLC9A3R1	TMEM270	GTF2I	NCF1	AP2S1	VDR	HSPG2	SLC22A12	KCNH1	KCNQ1OT1	SLC34A1	RFC2	PDE8B	BTNL2	IGF2	LIMK1	HGD	CAMKMT	EIF4H	HNF1B	CDKN1A	ANTXR1	CLCN5	GRHPR	FBN1	PKD2	CYP24A1	SLC7A9	APRT	FKBP6	CREBBP	STX1A	GDF2	SLC26A1	CDKN1B	ALG9	BAZ1B	ADCY10	MOCOS	SI	CHST14	OPLAH	CLDN19	BUD23	DNAJC30	SMAD4	ADAMTSL1	PRKAR1A	BICC1	GTF2IRD2	SLC5A1	CLDN16	CA2	PDE11A	SLC37A4	SLC34A3	SLC3A1	VPS37D	CLDN2	BSCL2	MEN1	EP300	AGPAT2	CACNA1D	SLC6A19	BCL7B	XDH	PAX2	OCRL	ATP6V1B1	NOD2	DSE	USP8	SLC2A9	ACVRL1	MOCS2	DNAJB11	KCNQ1	AIP	CTNS	PRKACA	SETBP1	SLC1A1	PPM1B	SLC34A2	ARMC5	SPRED1	ATP7B	GNAS	ENG	METTL27	CLDN10	CDKN2C	TBL2	CLIP2	MGME1	MOCS1	KRT17	GTF2IRD1	HLA-DRB1	PKD1	SERPINH1
HP_INFERTILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFERTILITY	HYDIN	MEI1	TSPY1	ZMYND10	ARMC2	AR	SRY	DRC1	CCDC40	FCGR2A	NDN	STUB1	PMFBP1	BRAF	TERB1	DNAAF5	RNF212	SOX9	SNRPN	DZIP1	DNAAF2	TTC12	FOXL2	CFTR	STRC	TRIP13	QRICH2	CFAP298	PGR	AURKC	ODAD4	PPP2R3C	LRRC56	GAS8	MNS1	DNAH10	GCM2	RSPH1	CDC14A	DNAAF3	DNAI1	OFD1	FOXA2	WT1	DAZ1	GALT	CATSPER2	DAZ4	CCDC141	SOHLH1	DAZ2	GBA2	HESX1	FANCA	SPEF2	AMH	BRDT	DNAH1	DNAAF1	DUSP6	PANX1	DNAH8	CYP17A1	HLA-DQA1	HSF2BP	RSPH3	MCIDAS	XRCC2	CFAP300	RSPH9	CFAP65	NANOS1	MKRN3	DDX3Y	OTX2	DNAAF6	HSD17B3	FGF17	TEX14	LHCGR	MEIOB	MAGEL2	ODAD3	OCA2	TTC29	GGPS1	SYCP2	SLC26A8	PRLR	SEMA3E	TSGA10	GAS2L2	FSIP2	DNAJB13	GNRH1	NPAP1	SRA1	CATSPER1	PWAR1	CFAP58	CCNO	TUBB8	TGFB1	GNRHR	PATL2	M1AP	VAMP7	AXL	CATIP	DNAH5	DNAH9	PROP1	ZFPM2	DNAAF4	NR0B1	TEX11	CCDC39	STK36	GATA4	DNAAF11	FSHB	SPAG1	ODAD1	MAP3K1	DNAL1	CFAP251	LHX4	NR5A1	RBMY1A1	FOXJ1	HJV	AMHR2	SIM1	CDH23	DNAI2	RPGR	RSPH4A	AK7	FIGLA	POU1F1	DHH	NR3C1	TLE6	CCDC65	WDR11	BLM	WEE2	SPRY4	WWOX	CFAP70	CFAP47	IFT74	PADI6	CFAP43	CEP112	ZP1	C14orf39	FEZF1	GLI2	ASTL	DMRT3	ACTL9	CLDN2	PLCZ1	HERC2	REC114	PTPN11	H6PD	MAP2K1	PNLDC1	CCDC103	SOX3	C11orf80	DAZ3	SUN5	PWRN1	STAG3	KLHL10	ODAD2	SNORD115-1	SPAG17	CFAP52	CTNS	HLA-DQB1	NEK10	HFE	ADGRG2	DHX37	TERB2	SPATA16	ZP2	USP9Y	CYP19A1	DNAH2	CEP19	DNAH11	CFAP44	RNF216	SNORD116-1	NME8	PLIN1	SEPTIN12	CFAP221	ZP3	DNAH17	BTG4
HP_URIC_ACID_NEPHROLITHIASIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URIC_ACID_NEPHROLITHIASIS	PRPS1	APRT	SLC2A9	HPRT1	SLC22A12
HP_MEMBRANOPROLIFERATIVE_GLOMERULONEPHRITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEMBRANOPROLIFERATIVE_GLOMERULONEPHRITIS	PGM3	LMNB2	SOX18	SLC37A4	ZNFX1	C1QC	C3	C1QB	C1QA
HP_ABNORMALITY_OF_THE_URETHRA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_URETHRA	RERE	DKC1	AR	COMT	RPL10	ZEB2	BNC2	CDC6	GATA4	CDKN1C	RTTN	GATA1	SRCAP	RAD51	POLA1	SMG8	KANSL1	GPC3	COX7B	MAMLD1	CDC42	GTF2I	FANCC	PEX3	NCF1	PIEZO2	CYP21A2	SUCLG1	EIF4H	NELFA	RPL18	FANCF	HCCS	ERCC4	GPC4	FANCD2	PITX2	IGF2	FBLN5	LETM1	FZD2	NR2F2	B9D1	HSD3B2	FANCB	ZIC3	CHRNG	DNAJC19	FGF10	SMARCA4	CTC1	EVC2	ARX	WT1	ESCO2	COLEC11	FANCL	LTBP1	CILK1	FRAS1	SMC3	PLAG1	MID1	RAC1	EHMT1	PNPLA6	MED25	CYP17A1	PTPN11	SOX2	SMARCB1	GLI3	EFNB1	CPLX1	FREM2	COLEC10	MAD2L2	FANCA	BCL7B	PEX6	RPL27	ARID1A	WNT7A	SPTBN1	KARS1	DYNC2LI1	PSPH	LAMB3	FGFR2	RPL35A	ABL1	PAX6	RPS10	RTEL1	DYNC2I1	RPS26	ITGB4	WNT4	NIPBL	FLT4	FLNA	PEX12	SOX11	TMEM94	POR	HNF1B	PDE4D	ATRX	TONSL	PRDM16	SMS	ARID1B	RPS15A	CSPP1	OBSL1	TMEM63A	METTL27	DHCR7	NSD2	CREBBP	BCOR	PPP1R12A	PIGN	FAT4	DVL1	DYRK1A	ARL6IP6	FANCI	STAR	PEX16	SMC1A	FIG4	HBA1	EFEMP2	RPL15	SOX9	ADAT3	KDM6A	RAD21	CHRM3	VAMP7	ZFPM2	BDNF	NR0B1	ELN	KLHL41	USB1	TBX1	FERMT1	C2CD3	GMNN	RFC2	SRD5A2	ZMPSTE24	RBBP8	DHX37	HOXA13	LIG4	BUB1B	RIPPLY2	PEX26	TERT	BICRA	FKBP6	HSD17B3	BRD4	MYMK	MAPRE2	HMGA2	BMP4	MECP2	ATR	SMARCD1	OTUD5	CTBP1	WWOX	BUD23	TERC	CYP11A1	RAD51C	FANCE	DNAJC30	TCTN1	KIF7	DLL3	EVC	NEB	SIAH1	PEX14	RPS24	VPS37D	WNT5A	EP300	TAPT1	ADA2	FDFT1	MKKS	SALL1	RPS19	FGFR1	PTDSS1	TMEM107	PEX1	CLMP	CCDC8	SMARCA2	TP63	TMEM67	MKS1	TUBB	KLHL40	KDM3B	B3GLCT	CYB5A	CC2D2A	RLIM	ATP6AP2	ORC6	BRCA2	XRCC2	NDUFB11	DYNC2H1	THOC6	GRIP1	CDT1	WDR35	GP1BB	KIAA0753	AFF4	RIN2	BRCA1	PQBP1	GATAD2B	KAT5	ORC1	PLEC	PIGG	LMOD3	MLXIPL	SRY	HDAC8	ORC4	ARID2	TRIM8	SMAD4	MTOR	BRAF	TMEM216	MCTP2	LAMA3	TCTN2	LIMK1	ISL1	PRKAR1A	UBR1	TFAP2A	PSMD12	RPS17	RPS7	MTM1	VAC14	TBX22	ZMIZ1	ALG12	RPS28	PRKCZ	DCHS1	CHRNA3	SIX6	TMEM237	RPL35	UBE4B	MESP2	ARCN1	ARVCF	LMNA	RPL5	SCUBE3	GLI1	HOXD13	CDH11	NOTCH2	CUL4B	UFD1	LSS	KDM5B	HUWE1	RPS27	HPSE2	NSD1	ZNF699	ITGA6	DACT1	TMEM70	MAB21L2	USP9X	SOX4	NR5A1	HIRA	CEP290	PALB2	KCNAB2	SETD2	SMARCC2	NPM1	SAMD9	RPS20	LAMC2	HYLS1	WASHC5	COG1	MNX1	FANCG	PEX19	LFNG	MMP23B	HLA-B	POLR3A	RPGRIP1L	CDC45	CUL7	NKX2-1	SETD5	SETBP1	PDPN	SMARCE1	FGFR3	NSUN2	RAF1	NAA10	RPGRIP1	SEC24C	TBL2	RSPO1	NHP2	FOXC1	PARN	TMEM231	FANCM	B9D2	APC2	HSPG2	FGFRL1	SPEN	MAP3K1	PEX11B	SPECC1L	FBXL4	IKZF1	KIAA0586	POLE	TMEM270	BRIP1	FOXF1	PEX10	PEX13	DPF2	DYNC2I2	KDM1A	SSR4	PEX5	SLX4	STX1A	LRIG2	NDUFS4	SLC25A10	DVL3	HBA2	BAZ1B	MMP1	COL3A1	PUF60	TCTN3	ACTA1	SYNGAP1	RPL11	CDCA7	CASZ1	COL7A1	KRAS	ERMARD	UBE2A	TXNDC15	RPL26	SIN3A	JMJD1C	PLD1	GTF2IRD2	CCDC22	DMRT3	NOP10	UBA1	UBE2T	MAP2K1	KMT2D	PEX2	MED12	LUZP1	MED12L	HES7	PKP1	NDUFA8	ZMYM2	RPL31	TTC8	TTC37	MAP3K7	CARS1	RFWD3	TINF2	GABRD	SKI	WRAP53	RPS29	EPG5	IFT80	TSR2	WNT3	RREB1	PCNT	CLIP2	KIFBP	SMCHD1	GTF2IRD1	ATPAF2	OGT
HP_URETHRAL_OBSTRUCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETHRAL_OBSTRUCTION	APC2	PLEC	MLXIPL	GTF2IRD2	DKC1	BNC2	CHRM3	SRCAP	NOP10	POLA1	VPS37D	SETD2	NPM1	HPSE2	ELN	LAMC2	FERMT1	USB1	BCL7B	TMEM270	GTF2I	MKKS	SALL1	NCF1	RFC2	LAMA3	LIMK1	TP63	LAMB3	EIF4H	PKP1	CDC45	RTEL1	FLNA	FLT4	ZMYM2	TERT	FKBP6	TBX1	STX1A	MAP3K7	LRIG2	TINF2	ITGB4	WRAP53	DACT1	IGF2	BAZ1B	MMP1	CTC1	METTL27	TBL2	CLIP2	COL7A1	BUD23	TERC	GTF2IRD1	NHP2	RIN2	PARN	DNAJC30	NSD1	ITGA6
HP_OLIGOSPERMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OLIGOSPERMIA	TSPY1	CNBP	ADGRG2	ARMC2	LHCGR	POR	CATSPER2	M1AP	SYCP2	DNAH10	PMFBP1	SUN5	CATIP	POC1A	PRKAR1A	NR0B1	TDRD9	USP9Y	CEP19	DZIP1	TEX15	BLM	DAZ3	DAZ1	NR3C1	NR5A1	CFAP70	CFAP47	IFT74	CATSPER1	CFTR	STRC	DAZ4	KLHL10	FSHB	DAZ2	ALMS1	CFAP65	RBMY1A1	DDX3Y	ANTXR1	DNAH17	CFAP91
HP_RENAL_STEATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_STEATOSIS	LDLRAP1	PCSK9	ABCG8	PCK1	PCK2	EYA1	APOE	APOB	LDLR	ABCG5	SIX1
HP_CYSTIC_RENAL_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CYSTIC_RENAL_DYSPLASIA	TBX18	TBC1D24	NEK8	BMPER	BICC1	CPT2	JAM3
HP_IMPOTENCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPOTENCE	SACS	GNRHR	PROK2	HEXB	BMP2	TACR3	KISS1R	CDKN2B	ABCD1	FGF17	ATXN8OS	MEN1	AIP	FMR1	SLC40A1	GUCY1A1	HAMP	SPRY4	SMARCB1	CDKN1A	BAP1	KISS1	TTR	TAC3	SUFU	NSMF	CDH23	LMNB1	SMARCE1	NF2	HFE	CDKN1B	HJV	PROKR2	CHD7	FGF8	TRAF7	TERT	WDR11	CDKN2C	PDGFB	SMO	COQ2	CACNA1G	HS6ST1	FGFR1	GNRH1	AKT1	DUSP6	PIGA	GPR101	PIK3CA	TFR2
HP_RENAL_CORTICAL_CYSTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_CORTICAL_CYSTS	KIAA0586	LIPT2	MPDU1	INVS	KCNQ1OT1	ETFA	PEX1	TTC37	IGF2	PEX2	ETFDH	KCNQ1	CSPP1	CDKN1C	PIGQ	NEK8	CEP290	ETFB	CD96
HP_ENURESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENURESIS	ZMYM2	SLC25A13	ELN	SLC12A3	BNC2	MLXIPL	NPHP3	AVPR2	DLG3	SLC5A2	FA2H	DPH1	AGXT	FAM20A	KY	AQP2	RNF168	CLCNKB	KCNJ10	SMARCA2	LRIG2	FOXP1	HPSE2
HP_GLANDULAR_HYPOSPADIAS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLANDULAR_HYPOSPADIAS	MKKS	MYMK	MAMLD1	HOXA13	MTM1
HP_PENOSCROTAL_HYPOSPADIAS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PENOSCROTAL_HYPOSPADIAS	HSD3B2	COLEC10	MAMLD1	SRY	CDH11	NR5A1	MTM1
HP_ABNORMAL_EXTERNAL_GENITALIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EXTERNAL_GENITALIA	PROM1	IL12A	KAT6A	LHX4	ZEB2	TBCE	LZTFL1	NALCN	RTTN	HYLS1	RRAS	TXNRD2	DPM2	STT3A	RAC3	GPC3	COX7B	CDC42	BBS4	OTX2	SNRPN	HSPG2	EXT2	CYP21A2	CDH2	SOS1	MED27	TP53	FAM149B1	ERCC3	FANCF	ERCC4	FANCD2	MAB21L1	RBM10	ODC1	FBLN5	FZD2	NR2F2	IRF6	PRMT7	SRCAP	FGFR1	HSD3B2	MYF6	BBS5	ZIC3	NR5A1	CHRNG	RAD51C	FGF10	CTC1	CEP290	LRAT	STT3B	EMC10	TOGARAM1	PHF21A	LMNA	LTBP1	STAT4	POGLUT1	KDSR	DUSP6	EHMT1	BBS7	TRIP12	SDHD	MED25	CYP17A1	FANCC	GMNN	HGSNAT	NAA10	SMARCB1	MEG3	GLI3	RARB	CENPT	COLEC10	MAD2L2	MED13L	FANCA	PTCH1	CLCN3	CDON	LAMB3	FBXW11	DDX6	C14orf39	RPL35A	RTEL1	TCF20	RPS26	ITGB4	WNT4	NIPBL	CD96	FLNA	PEX12	IFT81	NSMF	TMEM94	SCYL2	TARS1	TONSL	SMS	ARID1B	RPS15A	IGF2	CEP41	SEMA3E	CSPP1	RLIM	ZDHHC9	FGF8	MDM2	KATNIP	SOX10	ARL6	PTRH2	RAB3GAP2	FLT4	NDNF	DYRK1A	DISP1	MAGEL2	MYT1L	ESS2	USF3	FIG4	OCA2	ZPR1	PBX1	ARNT2	RPL15	ADAT3	RP1L1	RSPO2	DNM2	LONP1	KAT6B	RAD21	CHRM3	INSR	DCC	FGFR2	NR0B1	GNAS	RAB3GAP1	PNPLA6	TBX1	FSHB	KCNH1	FAM111A	KRAS	LIG4	OFD1	WT1	ZMPSTE24	ATAD3A	FRAS1	HOXA13	MEGF8	TACR3	PEX26	TERT	AMHR2	NANOS1	NDN	LSM11	HPDL	AGBL5	DCAF17	SMARCD1	PEX5	HIBCH	STAC3	DGCR2	PDE4D	ERCC6	EMG1	POLA1	MYLK	KLLN	BUD23	TERC	MKKS	WDR37	GBA2	PMM2	FANCE	PRCD	DNAJC30	GRIP1	PNKP	PUS7	FLI1	SIAH1	CYP11A1	TWIST2	SYNCRIP	PTEN	SCN1B	PHF8	FXR1	TAPT1	AGO2	DHDDS	CCNQ	PPP1CB	RPS19	DAZ3	TMEM107	MASP1	CLMP	ERCC8	SLC26A2	POMT2	B4GAT1	MKS1	KISS1	MECP2	TRIP13	EP300	DVL3	SPTBN1	KDM3B	CYB5A	PROK2	SHH	ATP6AP2	MAPRE2	NDUFB11	HNRNPK	KAT8	KCNQ1OT1	SEMA4A	CDKN1B	LEP	WNT7A	WDR35	AFF4	ATP6V1B2	CDK8	BRCA1	MYOD1	KDM6B	FKRP	GAS1	DYNC2I1	HDAC8	FLNB	PRPF3	ATIC	CPE	KDM4B	AIP	TSHB	BRAF	DHH	EBP	CTBP1	MBTPS2	LAMA3	TCTN2	RP1	TFAP2A	AR	PSMD12	MTM1	ZMIZ1	TMEM216	ALG12	SLC16A2	RAPSN	CDKL5	TMEM237	PTPRF	LZTR1	RIN2	MAP3K1	RPL5	SCUBE3	TNRC6B	WDR11	LARGE1	FGFR3	UFD1	DPAGT1	CCBE1	PSENEN	BRWD3	GHR	ZFPM2	CDKN1C	RYR1	ITGA6	SRY	PRRX1	DACT1	TMEM70	IFT88	XPA	USP9X	DIS3L2	FKTN	KCNAB2	PDE6A	NPM1	AGPAT2	KLHL7	WASHC5	OCRL	DSE	PPP1R15B	ACTL6A	ROM1	HLA-B	UBR7	NKX2-1	CPLANE1	SETD5	SETBP1	PLEC	MAP3K7	PRPF6	GSC	NSUN2	RAB23	COL3A1	UBR1	MCM5	ACTG2	NRAS	MUSK	GNRH1	ALX4	MAPK1	PAFAH1B1	FOXC1	XPC	HS2ST1	RTL1	PEX1	CPLX1	SLC35D1	PAX6	STS	SOX2	AXL	PEX11B	ANKRD11	FGF17	GMPPB	RECQL4	PRPH2	SAG	LRIG2	SATB2	KIAA1109	KIF7	BAZ1B	ATM	TCTN3	POMGNT1	ACTA1	SLC19A2	HS6ST1	BEST1	DCX	ERMARD	MERTK	MRAP	BBS10	TXNDC15	SIN3A	GPR101	ATP6V0A2	ROR2	UBE3B	CTCF	DMRT3	PDE6D	NOP10	UBE2T	RP9	BBIP1	FSCN2	FERMT1	TTC8	CHST14	MED12L	WDPCP	ASXL3	ATN1	CLRN1	NDUFA8	ZMYM2	RPL31	GJA5	MED12	NSD1	RFWD3	ANKLE2	B3GLCT	CRB1	DGCR8	TSR2	ERCC2	MC2R	TOE1	CLIP2	FAS	GTF2IRD1	OTUD6B	SPECC1L	RNU4ATAC	KLHL15	CWC27	B9D1	FANCM	CITED2	CDC6	POLR3K	KANSL1	LEPR	KIZ	NKX2-5	GTF2I	TBCD	SOX3	SCN2A	NKX2-6	SUCLG1	HCCS	LMOD1	GPC4	INTU	MPLKIP	IFT27	LETM1	YY1	DNAJC19	SMARCA4	GALT	COLEC11	RNASEH2C	NEK1	REEP6	ZSWIM6	CAVIN1	SLC25A24	PACS2	TBCK	MAPK8IP3	MRAS	BUB1B	BNC2	NDP	CHD7	KIAA0586	COL4A1	ABL1	MKRN3	RPS10	TDRD9	HSD17B3	TASP1	INSL3	PTCH2	HNF1B	FLRT3	ATRX	AUTS2	PRDM16	FANCL	RAB18	MTOR	PIGN	PROKR2	NSD2	CCDC32	FAT4	TBL1XR1	ARL6IP6	SMC1A	HBA1	CNGB1	FGD1	GNRHR	VAMP7	CCDC174	RERE	KCNJ6	SOX9	IFT172	ZNF408	MEFV	CA4	TRRAP	SMCHD1	TLR4	SIL1	ASH1L	PIEZO1	INPPL1	RBMY1A1	KIAA0753	DOK7	ELN	MYMK	HMGA2	BMP4	RGR	ERCC5	ATR	CDHR1	TGIF1	CCDC141	SIK1	FOXH1	TBC1D20	NONO	ZBTB20	POMK	EYS	GRM7	PRPF8	TCOF1	TRAIP	PCNT	MRPS28	DLL3	EVC	NEB	BMPR1A	RPS24	KISS1R	IFNGR1	CDT1	SMARCA2	ECE1	AKR1C4	GRIA2	SALL1	NUP88	ARX	HHAT	CKAP2L	CYP11B1	CFAP418	TEX14	B4GALT7	GLI2	TAC3	KLHL10	NEXMIF	SKI	CC2D2A	UBE2A	IL23R	BRCA2	DYNC2H1	PRKDC	TINF2	SYCE1	AEBP1	GATAD2B	NOTCH3	MLXIPL	ABCD4	ARID2	NEUROD2	SMAD4	AKT1	XRCC4	MCTP2	DMRT1	TBC1D24	PITX2	GJC2	NR2E3	RP2	DGCR6	STAR	H19	PRKAR1A	POFUT1	IMPDH1	VAC14	ALOX12B	BBS9	IER3IP1	KMT2D	BBS2	NF1	UBE4B	ARCN1	WRN	ARVCF	ALKBH8	SUZ12	FOXA2	CREBBP	HOXD13	DAZ1	NOTCH2	HUWE1	DAZ4	ACTA2	BBS1	HESX1	TANC2	POMT1	TBX3	MAB21L2	IDH3B	RNASEH2B	SOX4	DKC1	BCAS3	POR	SMARCC2	SHOC2	BSCL2	SAMD9	RPS20	NNT	FBN1	TP63	RAC1	INPP5E	GPC6	MMP23B	RPE65	FARS2	SOX18	AGA	GTF2H5	SUFU	RPGRIP1	NRL	LAS1L	UPF3B	SRA1	SAMHD1	MAF	SEC23B	CDC73	TRIM8	ADNP	FGFRL1	CUL7	SPEN	SRD5A2	BBS12	ANK1	FBXL4	STAG1	IKZF1	BRIP1	PEX10	DPF2	SSR4	PROP1	ACTB	RNF135	SIM1	STX1A	NDUFS4	PTPN11	SLC25A10	CCDC22	ALG8	EFNB1	PUF60	SYNGAP1	RPL11	COL7A1	EVC2	SLC18A3	DHCR24	PIEZO2	MINPP1	JMJD1C	GJA1	GTF2IRD2	ESR2	SYNE1	CFTR	BLM	UBA1	GATA1	GJB4	NKAP	LUZP1	HES7	TBX15	MAP2K2	MID1	B9D2	CDKN2A	KLRC4	PEX6	EZH2	HFE	PIGA	DHX37	CARS1	GABRD	PRPF4	SOS2	IFT80	DLL1	SPRY4	NPHP1	WNT3	KIFBP	ORC4	SLC25A22	ATPAF2	TREX1	NFIX	JARID2	AHI1	IL12A-AS1	NTNG2	EED	B3GALNT2	GATA4	CCDC28B	SMG8	MYH11	RIT1	CEP120	PEX3	PDE8B	EIF4H	CTU2	MAMLD1	PHGDH	ERAP1	MYLPF	NODAL	TWIST1	EBF3	RPL10	BRCC3	PACS1	CEP19	ESCO2	SLC7A14	CILK1	PCARE	SC5D	IFIH1	RNU7-1	SMC3	TBX4	LHB	PTPN23	FREM2	POU3F3	SDHC	POLR1D	RPL27	FANCB	TNXB	KARS1	KDM6A	DYNC2LI1	PSPH	WDFY3	ALMS1	SMOC1	ECEL1	PRKACA	KCNA1	CRX	BCORL1	TMEM63A	METTL27	NPAP1	DHCR7	BCOR	PPP1R12A	ALOXE3	CEP57	TRIP4	TMCO1	FTO	PEX16	GUCA1B	CERKL	ANGPT2	TRIM32	BDNF	ADAR	C2CD3	DHODH	FARSB	KMT2E	RBBP8	TNFRSF1A	RIPPLY2	FKBP6	BRD4	RNF113A	OTUD5	PIK3CA	WWOX	GATA5	ANAPC1	LMBR1	ATP6V1A	WFS1	TCF7L2	PHIP	PEX14	GDF1	IGBP1	VPS37D	POC1A	CRPPA	C4A	FDFT1	ARL2BP	PTDSS1	TCF4	PHF6	CCDC8	TMEM67	SNORD115-1	SLC29A3	TUBB	TSPYL1	KLHL40	HYMAI	VEGFC	ORC6	CLCN4	XRCC2	THOC6	SETD1A	RNASEH2A	KMT5B	PRPF31	ORC1	TSPY1	PIGG	RIPK4	GDF6	IFT140	RAF1	ISL1	TALDO1	TBX22	FMR1	DICER1	RPS28	PRKCZ	AKR1C2	DCHS1	CXCR4	RPL35	DLX4	MESP2	PHACTR1	NECTIN1	MTMR14	CUL4B	EDEM3	LSS	UBAC2	DYNC2I2	FAM161A	VANGL1	CBX2	HIRA	PALB2	MYRF	UPB1	PIGQ	CBL	DHX38	ATP6V1E1	GJB3	TEX15	COG1	MNX1	FANCG	PIGS	FDXR	RPGRIP1L	RDH12	HERC1	PDPN	CCR1	SEC24C	NHP2	CDC45	SNRNP200	TMEM231	ANKRD17	MYH3	APC2	GAD1	G6PC3	KEAP1	SATB1	DDB2	MAP2K1	USP7	FOXF1	TDGF1	CAV1	RBP3	MEIOB	SLX4	DNAJC21	HBA2	POU1F1	SOHLH1	RHO	CDCA7	SMO	LHX1	SCAPER	INPP5K	RRAS2	EIF2S3	SYCP3	FEZF1	PDE11A	SVBP	FOS	ZNF513	SEC23A	PLVAP	HERC2	STRA6	PEX2	WASF1	RORA	ANOS1	KCNQ1	TTC37	TULP1	RPS29	EPG5	GRIA3	PYCR1	RREB1	KRT5	ADAMTS3	PNLDC1	SEMA3A	OGT	DVL1	COMT	BIN1	CLIC2	TRMT1	RAD51	DPM1	NEK2	NCF1	DOCK3	DAG1	KDM1A	ALDH18A1	NELFA	POLR1C	RPL18	SDCCAG8	IMPG1	HPRT1	IFT74	GTF2E2	ACTL6B	JAM3	MADD	DAZ2	DPYSL5	GNAO1	GLE1	PLAG1	CHD4	KDM5C	NEDD4L	EWSR1	SGPL1	KCNMA1	ABCA4	BCL7B	CHUK	ARID1A	KCNN3	BPTF	DDX3Y	SIX3	SPATA7	POMGNT2	TOPORS	SOX11	POLD1	UQCC2	LHCGR	OBSL1	NXN	FBLN1	DLK1	TEX11	LMNB2	BRF1	FANCI	DMPK	EFEMP2	KLHL41	USB1	SLC12A2	RFC2	PDE6G	ZIC2	BICRA	SPRED2	IRX5	GRIA4	IMPG2	CHEK2	VPS13B	PLAGL1	TGDS	DMXL2	TCTN1	CTDP1	ZMYND15	ADARB1	SLC39A4	POLG	DNMT3A	BMP2	ARHGEF18	CASK	LIPE	RBMX	WNT5A	ADA2	TUB	COG5	PDE6B	BUB1	RNF2	FUZ	NTNG1	AMH	CNOT3	CYP19A1	GP1BB	NR3C1	SNORD116-1	AP1S2	YWHAE	PQBP1	MBD5	KAT5	MOGS	LMOD3	VPS35L	USH2A	MED13	LIMK1	NFIB	RPS17	RPS7	RXYLT1	CHRNA3	SIX6	CEP152	LMX1B	KDR	PPARG	GLI1	AHR	CDH11	PAX7	KDM5B	TAF6	RPS27	HPSE2	ZNF699	ERCC1	JAG1	SETD2	LAMC2	PALS1	PEX19	LFNG	GPR161	POLR3A	XYLT2	IL17RD	MCM8	STK11	SLC34A2	STXBP1	SMARCE1	SPRED1	GNB2	IDH3A	PORCN	BUB3	TBL2	RSPO1	PWAR1	IL1RAPL1	PARN	ROBO1	RASA2	THOC2	GK	TPM2	POLE	TMEM270	IL10	PEX13	HTT	PIK3C2A	MAK	KIAA1549	MMP1	OPHN1	RPGR	ARL3	CLP1	CASZ1	POLR1B	CNGA1	MECOM	LMBRD2	RPL26	PLD1	GFM2	HRAS	PWRN1	PKP1	GATA6	WRAP53	USP9Y	TAF4B	SDHB	EIF5A	RLBP1	PIGP	TRAPPC4
HP_ABNORMAL_INTERNAL_GENITALIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_INTERNAL_GENITALIA	FSHR	WNT10A	FASLG	LMNA	POF1B	DKC1	AR	COMT	CCDC28B	SRCAP	RAD51	HYLS1	BMP15	SALL4	CDKN1C	BRCA2	COX7B	LEPR	MAMLD1	RBM8A	FREM1	MNX1	NKX3-2	GATA3	GTF2I	FANCC	SOX3	CTLA4	NCF1	KCNQ1OT1	FOXL2	RAD51D	DCAF17	NBN	EIF4H	DHH	GREB1L	POLR1C	ERCC3	FANCF	HCCS	SDCCAG8	ERCC4	IGKC	INTU	AKT1	MPLKIP	FANCD2	LRP2	IFT27	MLH3	BUB1	GALK1	NR2F2	MSH6	ARHGAP31	ZMPSTE24	NDNF	MCC	BBS5	NR5A1	CC2D2A	PTEN	CTC1	CHD7	IFT74	CASP10	PHKB	EVC2	GTF2E2	CEP290	WT1	CEP19	ESCO2	FGFR1	GALT	FANCL	COL5A2	TBX6	SMAD3	FRAS1	PTCH2	THOC6	CCND1	DUSP6	PHKG2	SMC3	CHEK2	MID1	LHB	PHGDH	CAVIN1	BUB1B	GNRHR	BBS7	SDHD	CYP17A1	PTPN11	HSF2BP	EWSR1	RECQL4	MSH2	BNC1	RARB	FREM2	RPS20	SDHC	POLR1D	LEP	MAD2L2	ZEB2	FANCA	PPP2R1A	BCL7B	HS6ST1	PMS2	NDP	SRY	BRCA1	HLA-DPA1	WNT7A	TNXB	DYNC2LI1	ALMS1	NPHP4	PAX6	RNASEL	RTEL1	PMM2	DYNC2I1	NPHP1	PLG	NSMF	PSMC3IP	EPCAM	POR	IL10RB	HNF1B	OPCML	TARS1	FLRT3	PRKAR1A	CLPP	FLI1	ARID1B	ESR1	FGF8	METTL27	MDM2	DHCR7	SOX10	NSD2	CREBBP	PPP1R12A	PIGN	CEP57	RPS6KA3	MSH3	FANCB	FANCI	SMC1A	USF3	ZPR1	RELA	GREM1	EIF2B1	AIRE	EIF2B4	ERBB2	CCNQ	SPIDR	SOX9	TACR3	LONP1	MYC	STAG3	RAD21	CHRM3	VAMP7	TRIM32	INSR	ZFPM2	DCC	NR0B1	FGFR2	POLD1	GNAS	ELN	BAX	DIAPH2	USB1	CDH1	TBX1	FMR1	TP53	IL17RA	TWNK	COL4A6	TGFBR2	RFC2	RABL3	BRAF	SRD5A2	MXI1	FGF20	DICER1	C14orf39	CDC73	IDH1	PROKR2	DHX37	EIF2B5	CORIN	COL14A1	RIPPLY2	KRAS	COL1A1	FKBP6	AMHR2	BMPR1B	BRD4	UNG	BMP4	FLT1	JAK3	CTNNB1	MKKS	ERAL1	PIK3CA	CDH23	IGHG2	BLM	CCDC141	WWOX	KLLN	FH	BUD23	AAGAB	TERC	ANAPC1	NPHP3	CYP11A1	RAD51C	KIF7	FANCE	DNAJC30	EP300	TCOF1	TRAIP	GLI3	KISS1R	DLL3	BARD1	STAT6	POLG	WDR19	FAS	ZFTA	LIPE	VPS37D	CLDN2	RCBTB1	PTCH1	BTK	SALL1	PRTN3	WNT9B	BMPR1A	B4GALNT1	CYP11B1	TGFBR1	TP63	AIP	CFAP418	ZFHX4	FAN1	WNT4	HLA-DPB1	CXCR4	KISS1	ANTXR2	TRIP13	TAC3	ADGRG2	B3GLCT	BSCL2	CYB5A	HARS2	PROK2	MRPS22	COL25A1	IDH2	TERT	XRCC2	NDUFB11	DYNC2H1	CYP19A1	GRIP1	CDKN1B	GP1BB	CIDEC	AKT2	BCOR	WDR35	WDR11	IQCB1	MLXIPL	SUFU	ZFHX3	STK11	HDAC8	TLR2	RIPK4	FGF17	POLE	PRKCD	DMRT1	IFT172	SLC6A17	MT-CYB	CEP164	CTBP1	CLEC7A	IGF2	CFTR	LIMK1	SPRY4	FSHB	UBR1	PSMB8	APC	NUP107	MTM1	BBS9	TBX3	TSC1	TTI2	LARS2	AXIN1	FEZF1	MLH1	IL17RC	SEMA3E	MESP2	WRN	ARVCF	RIN2	MAP3K1	EPHB2	KIF14	PPARG	GLI1	HOXD13	FLCN	VHL	IL17F	FGFR3	UFD1	PRKN	ERCC6	BBS1	MAD1L1	DDB1	AMH	AURKA	RET	EIF2B2	DACT1	PALB2	SLC35A2	SLC37A4	CBX2	HIRA	MYRF	NPM1	SEMA3A	ARL6	SMAD4	AXIN2	SF3B4	AGPAT2	FANCG	FGF10	MKS1	LFNG	STOX1	SEMA4A	LMNB2	HNF1A	ITGA8	MRE11	TSC2	SETBP1	PALLD	IL17RD	MCM8	PHKA2	DLC1	GTF2H5	SLC34A2	EVC	GGPS1	F7	SPRED1	GNB2	COL3A1	ANOS1	SRC	SEC24C	NAB2	BUB3	TBL2	ERCC2	NHP2	TRAF3IP2	WNT3	PARN	PTPN22	FANCM	NRAS	SEC23B	CPLX1	FGFRL1	HSD17B4	RNF43	BBS12	KEAP1	NIPBL	RSPO2	GATA4	TMEM270	BRIP1	POLR3H	MSX1	PHF6	FOXF1	BBS4	RASGRP1	PAX3	HESX1	PRLR	INVS	DYNC2I2	LZTFL1	CAV1	PTPRJ	SLX4	PMS1	SETD2	RXYLT1	STX1A	OFD1	FIGLA	CDKN2A	BAZ1B	ATM	ADH5	RNF113A	PLA2G2A	COL4A5	HGD	POLG2	TCTN3	SCAPER	POLR1B	AARS2	GNRH1	BBS10	PDGFRL	MINPP1	JMJD1C	GTF2IRD2	FOS	DMRT3	NOP10	NIN	PTPN12	IRF6	UBE2T	BBIP1	LETM1	STRA6	HOXA13	BBS2	NTHL1	SPINT2	HES7	RAD54B	WDPCP	ALG9	MMP2	TTC8	KCNQ1	COL5A1	ZMYM2	MEN1	RFWD3	TINF2	RAD50	WRAP53	MCM3AP	MMP14	SOHLH1	IFT80	SDHB	EIF2B3	TOE1	RREB1	TRAF3IP1	CLIP2	HFM1	GTF2IRD1	PLIN1	CAPN15	SPECC1L	KLF6	NOBOX	COL7A1
HP_BICORNUATE_UTERUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BICORNUATE_UTERUS	FANCM	CCNQ	RAD51	PALB2	RIPK4	RARB	SRY	FREM2	UBE2T	MNX1	MAD2L2	FGFR2	STRA6	FANCA	FANCC	BRIP1	FANCG	FGF10	FOXF1	TNXB	ALG9	FRAS1	FANCF	HOXA13	ERCC4	SLX4	FANCD2	LRP2	SETBP1	HNF1B	SF3B4	RFWD3	LARS2	BRCA2	XRCC2	GRIP1	ITGA8	DHCR7	ESCO2	FGFR3	PIGN	FANCB	FANCL	RAD51C	BRCA1	FANCE	SPECC1L	FANCI	WT1	MID1
HP_HYPERGONADOTROPIC_HYPOGONADISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERGONADOTROPIC_HYPOGONADISM	ALMS1	LMNA	POLG	DHH	SIL1	FANCC	DMRT3	VAMP7	GALT	MRE11	TWNK	ZFPM2	BMP15	NR0B1	ITGB6	LEPR	LEP	LSS	AHSG	SAMD9	AMACR	GNAS	MGME1	GATA4	SOX9	SCP2	MAP3K1	FANCB	FOXL2	LHCGR	NR5A1	LIG3	PMM2	ZBTB20	BMPR1B	WT1	CYB5A	GALK1	DHX37	FANCD2	DCAF17	POLR3A	CLPP	CYP19A1	BRCC3	SLC29A3	TYMP	COQ2	RIN2	RRM2B	POLA1	WWOX	POLR1C	SRY	POLR3B	CYP17A1	FANCE	FANCA	CTDP1
HP_ABNORMALITY_OF_KREBS_CYCLE_METABOLISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_KREBS_CYCLE_METABOLISM	MT-TL1	PRDX1	FXN	MT-ND4	FH	MT-TW	MMAB	MMADHC	MMACHC	OGDH	MT-ND2	MT-TV	MT-TK	MT-ATP6	MMAA	MT-ND5	MT-ND6	MT-ND3	MT-ND1
HP_ABNORMALITY_OF_THE_THYROID_GLAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_THYROID_GLAND	TNPO3	FASLG	CACNA1S	IL7R	COMT	LHX4	OPA1	TRHR	FLCN	CDKN2B	SKIV2L	STUB1	SUGCT	RAG2	KANSL1	TXNRD2	DNM1L	LEPR	SHH	HBB	GTF2I	SNRPN	CTNS	NCF1	TGIF1	EXT2	PROP1	DCAF17	TSHR	DUOX2	TSC2	YY1	MINPP1	THRB	EIF4H	SOX3	TCF4	CDKN1A	POLR1C	BAP1	C1QBP	RAG1	MSTO1	MT-TL2	MT-TN	TWNK	MT-TH	SMARCE1	NODAL	CDON	MSH3	KCNJ18	FOXH1	SMARCA4	IL12A	POMC	FGF8	CASP10	FGFR1	PTEN	MT-CO1	TRAF7	TSC1	CHD7	STAT1	MPI	MARS1	NRAS	MT-ND1	FOXE1	CLCNKB	POLG	TREX1	PHF21A	ARNT2	RET	RNASEH2C	TG	PLAGL1	IFIH1	TDGF1	RNU7-1	SEMA3E	FDX2	PLAG1	MID1	SDHD	TBCK	HYMAI	ABCC6	IL12RB1	FUT8	SMARCB1	SRD5A3	WFS1	APC	SGPL1	RPS20	CTNNB1	TRPV6	SDHC	POLR1D	LEP	BUB1B	WDR4	STIL	BCL7B	MT-TF	NRTN	HABP2	PTCH1	ARID1A	TONSL	SIX3	JAK1	KARS1	KDM6A	IYD	ALMS1	LHX3	RAI1	OTX2	PMM2	BIRC3	HSD17B3	SLC25A4	TTC37	SOX11	MAGEL2	EPCAM	ZIC2	HNF1B	MT-CO2	POLG2	PCSK1	PRDM16	ARID1B	NKX2-1	JAG1	PRKAR1A	GDNF	IFNG	POU1F1	DISP1	HPD	MT-TL1	GATA1	GNE	POU3F4	TERT	METTL27	GATA6	MDM2	C1S	KATNIP	TF	PDGFB	AKT1	TANGO2	PTRH2	CEP57	ARL6IP6	APOE	LRBA	USF3	NKX2-5	POU2AF1	OCA2	ATP6V1B2	PIK3CA	GREM1	TPO	AIRE	CDC73	MEN1	ADAT3	RERE	GNAS	NPHS1	GLI3	KCNJ10	ADAR	ELN	MLH3	ENPP1	USP9X	TBX1	FMR1	TGFBR2	RFC2	LIG4	DICER1	NDN	PIEZO1	IDH1	MSH2	SMO	KRAS	BICRA	FKBP6	CLPB	HMGA2	BMP4	DUOXA2	IRF5	SPIB	SMARCD1	GLIS3	CHEK2	TRH	FOXP1	IGSF1	FARSA	B4GALT1	PDE4D	GAS1	CDH23	TSHB	PLCG2	DMXL2	ITCH	KLLN	BUD23	ANAPC1	DNAJC30	FOXP3	DNAH1	TCOF1	DLL1	NLRP1	TMEM67	MADD	FLII	FAS	SAA1	SLC26A4	TTC7A	ABCB11	VPS37D	DCLRE1C	SLC16A2	THRA	DEAF1	RCBTB1	ERBB3	SALL1	BMPR1A	NNT	BUB1	AIP	FAN1	SECISBP2	GLI2	TRIP13	MTTP	ATP8B1	B3GLCT	CTLA4	KISS1R	IDH2	FOXD3	HNRNPK	TBX2	WDR11	ABCD1	CDKN1B	MT-ND4	GP1BB	RNASEH2A	ADA2	AFF4	HLA-DRB1	ACP5	SVBP	LRP4	IL18BP	BCOR	EXOSC2	POLR3GL	MOGS	GABRA3	YRDC	MLXIPL	MT-ND6	SRY	ARID2	IRF4	XRCC4	CPE	PRKCD	RRM2B	STAT5B	SASH1	SLC6A17	TBC1D24	SLC5A5	STAG2	SMARCAL1	DDOST	BTNL2	LIMK1	STAR	IGF2	MMEL1	MT-TW	NR1H4	KAT6B	GCH1	FGF13	KMT2D	INSR	PRKCZ	SPOP	NF2	FANCI	STEAP3	UBE4B	EIF2AK3	MLH1	CYP27A1	WRN	ARVCF	NEXMIF	FOXA2	UFD1	KCNJ11	CCBE1	DDB1	NSD1	HESX1	CDKN1C	ADAMTSL1	EDN3	ABCC8	PAX8	RNASEH2B	HLA-DQA1	SLC12A3	SOX4	MDM4	SLC37A4	HIRA	KCNAB2	SETD2	PPP1R15B	SMARCC2	HRAS	CACNA1C	SMC1A	STAT3	TRAPPC9	SEMA4A	EYA1	GPR161	MMP23B	ECE1	UBR7	PROKR2	MT-CO3	SETBP1	SUFU	PDPN	MCM8	FOXI1	PMS2	GNB2	DACT1	UBR1	ADA	SEC24C	BUB3	TBL2	ALX4	ZFP57	NSDHL	ROBO1	SEMA3D	SAMHD1	APC2	SEC23B	LIFR	HSPG2	SPEN	ABCB4	KEAP1	DYRK1A	IL2RG	TMEM270	RASGRP1	SEMA4D	GRM7	DPF2	MT-TS2	ATP7A	PIK3C2A	PMS1	ZBTB20	CASR	SIM1	RPL10	STX1A	ALG8	IL2RA	BAZ1B	SCN4A	CASZ1	POLR1B	TBL1X	MT-ND5	EDNRB	MRAP	JMJD1C	PLAA	GTF2IRD2	ERBB2	SIX1	MSH6	NIN	PLVAP	GPR35	BRAF	LUZP1	MST1	LMNA	TRMT10A	SRGAP1	MMP2	TNFSF15	IPO8	CDKN2A	TP53	SOCS1	POLR3A	HLA-DQB1	SREBF1	IRS4	HFE	GABRD	SKI	MMP14	FUCA1	SDHB	MC2R	RBM28	SEMA3C	RREB1	IQSEC2	CDKN2C	CLIP2	GTF2IRD1	BCL10	ZFAT	RMRP	MT-TQ	DNAJC19	MALT1
HP_DELAYED_PUBERTY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_PUBERTY	POF1B	SRY	BMP15	LHX4	HDAC8	NDN	STUB1	FGF17	GBA	CPE	INSR	G6PC1	HBB	STAT5B	SOX9	ENTPD1	SNRPN	EXT2	TACR3	DCAF17	SPRY4	IGFALS	FSHB	TGFB1	WFS1	FGD1	AR	TBX3	ALDOA	POLR3A	ZMPSTE24	LPIN2	NDNF	FEZF1	PYGL	POMC	RPL10	CHD7	BRCC3	SEMA3E	STAT1	WDR11	FOXA2	WT1	EIF2S3	NOTCH2	FGFR1	CUL4B	GALT	CLCNKB	PHF21A	PTRH2	LMNA	GHR	HESX1	DUSP6	PHKG2	SMC3	GNRHR	NONO	CYP17A1	PTPN11	HLA-DQA1	SLC12A3	SLC37A4	GMNN	BNC1	CENPT	PPP1R15B	SEMA3A	CTNNB1	PGM1	HS6ST1	TBC1D20	NDP	STAT3	OCRL	SPTBN1	PUS1	CDON	POLR3B	ALMS1	GPR161	MKRN3	OTX2	PROKR2	NF1	COL7A1	IL17RD	NSMF	MAGEL2	PHKA2	PSMC3IP	MAP3K7	POR	OCA2	FLRT3	LEPR	PCSK1	DNM1L	NUP107	DACT1	ANOS1	RAB18	FGF8	FSHR	ALX4	NPAP1	NR5A1	SOX10	TAF13	MRPS22	TRIP4	PWAR1	FAM111B	SMC1A	ROBO1	SCARB2	SPIDR	RAD21	VAMP7	CISD2	PROP1	ZFPM2	NLRP3	SMPD1	DCC	NR0B1	NIPBL	RAB3GAP1	VPS13B	GATA4	PNPLA6	POLR3H	MAP3K1	PHF6	RAB3GAP2	ATAD3A	SLC25A13	CDH23	BRD4	GLA	POU1F1	MMP1	ATM	RAI1	CCDC141	WWOX	USP9X	RBM28	GNRH1	CYP11A1	PROK2	FLII	GLI2	YARS2	KISS1R	DMRT3	HERC2	MSMO1	DEAF1	BRAF	TRMT10A	BTK	SOX3	PWRN1	AIP	SALL1	SNORD115-1	CTNS	SLC29A3	HLA-DQB1	KISS1	TAC3	CYB5A	MEN1	DHX37	CARS1	GHSR	EIF5A	IQSEC2	SNORD116-1	LGR4	POLR3GL
HP_HYPERINSULINEMIC_HYPOGLYCEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERINSULINEMIC_HYPOGLYCEMIA	ABCC8	MAFA	KCNJ11	GCK	GLUD1	KLF11	YY1	UCP2	HADH	BLK	NEUROD1	APPL1	PDX1	MEN1	HNF1A	INS	TRMT10A	MPI	INSR	CDKN1B	HNF4A	PAX4	SLC16A1	CEL
HP_ABNORMALITY_OF_THE_PARATHYROID_GLAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PARATHYROID_GLAND	AIRE	GNAS	FAM111A	CDC73	MT-ND6	COMT	MEN1	YY1	GNA11	TBCE	CDKN2B	SLC12A1	CYP27B1	CDKN1B	GCM2	CASR	PLEKHM1	HBB	GATA3	TBX1	AP2S1	VDR	DGCR6	HADHA	CYP2R1	MT-TS2	IDH1	PRKAR1A	CDKN1A	LIG4	MT-TW	HADHB	IRX5	MT-TH	KL	PRMT7	PTH	TSC2	DGCR2	MT-CO1	ARVCF	CHD7	PTEN	ACTG2	MT-ND1	UFD1	CLCNKB	MT-ND5	PDE4D	RET	PIGT	SEMA3E	JMJD1C	CA2	TSC1	SLC12A3	SLC26A4	HIRA	FLCN	MT-TF	OCRL	COL4A5	MT-CO3	NKX2-1	KCNJ10	FOXI1	ARMC5	MT-CO2	NSUN2	NF1	PTH1R	IDH2	GNAS-AS1	DGCR8	ATP7B	MT-TL1	TBX2	SEC24C	RREB1	CLDN10	STX16	CDKN2C	MT-ND4	GP1BB	MT-TQ	ESS2
HP_HYPOPARATHYROIDISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPARATHYROIDISM	AIRE	FAM111A	MT-ND6	COMT	TBCE	HIRA	HBB	GATA3	MT-TF	TBX1	DGCR6	HADHA	MT-TS2	LIG4	COL4A5	MT-TW	MT-CO3	NKX2-1	HADHB	IRX5	MT-CO2	MT-TH	NSUN2	GCM2	PTH	PTH1R	DGCR8	ATP7B	MT-TL1	DGCR2	MT-CO1	TBX2	ARVCF	SEC24C	CHD7	RREB1	MT-ND1	MT-ND4	GP1BB	UFD1	MT-ND5	MT-TQ	ESS2	PIGT	SEMA3E	JMJD1C
HP_INSULIN_RESISTANT_DIABETES_MELLITUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INSULIN_RESISTANT_DIABETES_MELLITUS	ABCC8	ALMS1	HYMAI	KLF11	PPARG	PDX1	INSR	NEUROD1	LIPE	STAT3	BSCL2	LEPR	LEP	INS	AGPAT2	PTF1A	KCNJ11	LMNA	DCAF17	HNF4A	PAX4	NSMCE2	EIF2AK3	ZMPSTE24	GCK	BLK	APPL1	XRCC4	PIK3R1	HNF1A	PLAGL1	ZFP57	GATA6	PLIN1	CIDEC	CEL	AKT2	CNOT1
HP_ABNORMALITY_OF_THE_ADRENAL_GLANDS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ADRENAL_GLANDS	CYP17A1	NF1	TP53	LHX4	POMC	YY1	PLXND1	CDKN1C	CDKN2B	BSND	NDN	ABCD1	KANSL1	TXNRD2	HBB	SOX9	SNRPN	TBC1D24	ABCC6	PEX3	SLC25A11	KCNQ1OT1	PDE8B	PROP1	TRAPPC11	SIX3	BTNL2	IGF2	VHL	CYP21A2	STAR	CDKN1A	APC	POLR1C	QRSL1	BAP1	CYP11B2	HSD17B4	ZMPSTE24	SMARCE1	SCNN1A	DNMT3A	NF2	HSD3B2	SCN4A	STEAP3	NFKB2	SCNN1G	DLST	MEN1	SEMA3E	USP8	MTHFR	PTEN	TRAF7	LMNA	PEX14	PEX5	WT1	SMO	TNXB	CLCNKB	MRAP	CILK1	RET	WNK1	AAAS	AKT1	TBCK	SLC12A3	SCNN1B	KLHL3	HTR1A	VANGL2	CDH23	SGPL1	CTNNB1	CYP11B1	CYP11A1	POLR1D	SAMD9	NNT	HYLS1	WASHC5	PEX6	LIPA	TBX19	OCRL	PEX19	ARMC5	CDON	PEX1	PCSK1	SMARCB1	GPR161	MC2R	MKRN3	MDH2	PROKR2	TBC1D7	WNT4	SDHB	SLC26A3	PRKACA	PEX12	SUFU	MAGEL2	POR	OCA2	KIF1B	CHD7	PRKAR1A	PEX2	GNAS	MKS1	TERT	MDM2	NPAP1	PDGFB	CLCNKA	NSDHL	PWAR1	SRY	PEX11B	PEX16	ROBO1	ATP6V1B2	PIK3CA	AIRE	HSD11B2	KCNJ5	VAMP7	SLC12A1	ZFPM2	GATB	GK	NR0B1	GLI3	WNK4	POLE	GATA4	INSR	SDHAF2	MAP3K1	PEX13	MRPS25	KCNJ16	PEX10	IDH1	NR5A1	CLCN2	KCNJ11	PEX26	BMP4	KCNJ1	GATC	CACNA1S	CUL3	KCNJ2	CDKN1B	CHEK2	ADH5	SDHC	TCTN3	POLR1B	WWOX	RBM28	SDHD	NFS1	ENPP1	KCNJ10	TCOF1	NR3C2	PDE11A	CCDC22	SAA1	DMRT3	GMPPA	HERC2	BRAF	NKX2-6	IARS2	CACNA1D	HESX1	MAX	PWRN1	AIP	FH	KCNQ1	SNORD115-1	CDKN2A	ANTXR2	DHX37	SDHA	IDH2	NDUFAF5	KCNE3	TMEM127	WNT3	WDR11	CDKN2C	EPAS1	NR3C1	SNORD116-1	MCM4	HLA-DRB1	MRPS7	BCOR
HP_ADRENAL_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADRENAL_HYPOPLASIA	CYP11A1	CCDC22	LHX4	POMC	VANGL2	BMP4	ZMPSTE24	CDKN1C	LMNA	GLI3	NR0B1	ADH5	MTHFR	POLE	MKS1	WASHC5	WDR11	HESX1	TNXB	TBX19	PEX1	SIX3	CDON	NSDHL	CILK1	GPR161	ROBO1	PROKR2	TBC1D7
HP_HYPERTHYROIDISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTHYROIDISM	TBX1	CACNA1S	GNAS	GABRA3	SLC25A4	TBCK	COMT	CDH23	MSTO1	SLC12A3	TWNK	POLG2	HIRA	PTEN	SUGCT	AKT1	KCNJ18	RRM2B	PIK3CA	TSHR	FMR1	ARVCF	SEC24C	RREB1	GP1BB	BTNL2	UFD1	CLCNKB	POLG	HLA-DRB1	THRB	FOXP3	POLR3A	JMJD1C
HP_INCREASED_CIRCULATING_GONADOTROPIN_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_GONADOTROPIN_LEVEL	FSHR	CNBP	CYP11A1	FANCM	CYP17A1	AR	SRY	ESR2	BMP15	SPIDR	DMRT3	STAG3	HSD17B4	BNC1	VAMP7	CFTR	FOXL2	ZFPM2	NR0B1	GATA4	SOX9	PPP2R3C	POLR3H	MAP3K1	C14orf39	LHCGR	NR5A1	TEX14	DHX37	TDRD9	MEIOB	FGD1	NSMCE2	KLHL10	CDH23	NANOS1	WT1	MCM8	PSMC3IP	POR	CYB5A	CBX2	TEX15	POLA1	ERCC6	FIGLA	NUP107	LARS2	DHH	KISS1R	TAF4B	SOHLH1	ESR1	XRCC2	TEX11	WWOX	HFM1	SYCE1	MRPS22	PNLDC1	SYCP3	GDF9	ZMYND15	FMR1
HP_PITUITARY_DWARFISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PITUITARY_DWARFISM	PROP1	SOX3	FOXA2	GLI2	LHX3	GH1	LHX4	POU1F1	HESX1	OTX2
HP_HYPERACTIVE_RENIN_ANGIOTENSIN_SYSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERACTIVE_RENIN_ANGIOTENSIN_SYSTEM	SCNN1B	SCNN1G	SLC12A1	SLC26A3	NR3C2	BSND	CLCNKB	CLCNKA	KCNJ1	SCNN1A
HP_HYPERPARATHYROIDISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPARATHYROIDISM	GNAS	CDC73	GCM2	CA2	KCNJ10	FOXI1	YY1	GNA11	ARMC5	SLC26A4	CDKN2B	SLC12A1	MEN1	CDKN1B	CYP27B1	CASR	PLEKHM1	AP2S1	VDR	CLDN10	CDKN2C	ACTG2	OCRL	CYP2R1	RET	CDKN1A
HP_ELEVATED_CIRCULATING_GROWTH_HORMONE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CIRCULATING_GROWTH_HORMONE_CONCENTRATION	MEN1	GNAS	KCNJ11	CDH23	PRKAR1A	CDKN2B	GPR101	CDKN1B	AIP	SLCO2A1	HPGD	CDKN2C	PMM2	CDKN1A
HP_ADRENAL_INSUFFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADRENAL_INSUFFICIENCY	AIRE	PEX1	HSD11B2	POMC	VAMP7	NDN	ABCD1	ZFPM2	GATB	GK	NR0B1	GLI3	KANSL1	TXNRD2	PEX11B	LIPA	HBB	GATA4	SOX9	SNRPN	PEX3	MAP3K1	PEX13	PROP1	MRPS25	TRAPPC11	CYP11B1	PEX10	STAR	NR5A1	QRSL1	BAP1	OCA2	PEX5	CYP11B2	HSD17B4	PEX26	CDH23	SMARCE1	GATC	NF2	HSD3B2	STEAP3	NFKB2	PEX16	TRAF7	PEX14	TCTN3	WT1	SMO	WWOX	MAGEL2	RBM28	MRAP	NFS1	LHX4	TBX19	CYP11A1	AAAS	AKT1	TBCK	CYP17A1	SCNN1B	SAA1	DMRT3	GMPPA	HERC2	SGPL1	CTNNB1	SAMD9	BRAF	IARS2	NNT	PEX2	PEX6	NR3C2	PEX19	PWRN1	PCSK1	SMARCB1	AIP	MC2R	MKRN3	SNORD115-1	PEX12	SUFU	POR	MEN1	DHX37	NDUFAF5	TERT	NPAP1	PDGFB	NR3C1	SNORD116-1	MCM4	PWAR1	SRY	MRPS7	BCOR	PIK3CA
HP_ABNORMALITY_OF_RENIN_ANGIOTENSIN_SYSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_RENIN_ANGIOTENSIN_SYSTEM	HSD11B2	NR3C2	CYP11A1	CYP17A1	MAGED2	SCNN1B	KCNJ5	CASR	CDKN2B	SCNN1G	SLC12A1	CYP11B2	CYP11B1	MEN1	CACNA1D	INSR	AVPR2	KCNJ16	KCNJ10	BSND	CDKN1A	CLCN2	SLC26A3	SCNN1A	KCNJ1	HSD3B2	CDKN1B	CLCNKB	SLC12A3	CDKN2C	CLCNKA
HP_INCREASED_CIRCULATING_RENIN_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_RENIN_LEVEL	CYP11B2	INSR	SLC12A3	SCNN1B	NR3C2	CYP11A1	MAGED2	SCNN1A	KCNJ16	CLCNKB	KCNJ1	KCNJ10	CASR	SLC12A1	HSD3B2	BSND	SCNN1G	CLCNKA
HP_ADRENOCORTICAL_ABNORMALITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADRENOCORTICAL_ABNORMALITY	PRKAR1A	PRKACA	CDKN2C	ABCD1	PDE11A	PDE8B	PLXND1	CDKN2B	CDKN1B	GK	CDKN1A	MEN1	NKX2-6
HP_CONGENITAL_HYPOTHYROIDISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_HYPOTHYROIDISM	NKX2-1	PLAA	YRDC	KMT2D	PAX8	ZBTB20	B3GLCT	TSHR	DUOX2	DUOXA2	GLIS3	TXNRD2	THRA	SLC5A5	NNT	PDE4D	MC2R	TBC1D24	TSHB	GATA6	TPO	TRAPPC9	TONSL	KDM6A	MRAP	STAR	IYD	PRKAR1A	TG	NKX2-5	ADAMTSL1	ATP6V1B2	FOXE1
HP_PSEUDOHYPOPARATHYROIDISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSEUDOHYPOPARATHYROIDISM	GNAS	STX16	PRMT7	PDE4D	PRKAR1A	GNAS-AS1
HP_GOITER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GOITER	TPO	ALMS1	SEC23B	CACNA1S	SDHD	PAX8	FOXE1	SLC26A4	SIX1	CDKN2B	PTEN	SUGCT	DUOX2	AKT1	KCNJ10	RCBTB1	KEAP1	SDHC	THRB	MEN1	GNAS	RRM2B	TSHB	TSHR	SASH1	SLC5A5	TG	DICER1	EYA1	HABP2	IYD	IDH1	MMP2	CDKN1A	NKX2-1	SLC25A4	CDH23	PIK3CA	FOXI1	TWNK	POLG2	DUOXA2	MINPP1	CDKN1B	MMP14	PRKAR1A	KCNJ18	IDH2	SDHB	CDKN2C	KLLN	POLG	RET	USF3	DNAH1
HP_THYROID_ADENOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THYROID_ADENOMA	FASLG	CDC73	CDKN1B	MEN1	FAS	RASGRP1	PTEN	MSH3	AKT1	PRKCD	PIK3CA	CASP10
HP_INSULIN_RESISTANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INSULIN_RESISTANCE	ABCC8	ALMS1	IRS2	KLF11	PDX1	LIPE	HMGA1	CCDC28B	IRF4	RETN	HYMAI	STAT3	XRCC4	LEPR	INS	INSR	CAVIN1	DCAF17	HNF4A	PAX4	IGFALS	NSMCE2	MAPK8IP1	SLC2A2	ZMPSTE24	HNF1B	CAV1	GCK	MFN2	PIK3R1	WFS1	EIF2AK3	WRN	LMNA	PLAGL1	BLM	PPARG	KCNJ11	CLCNKB	PMM2	BBS1	CNOT1	SLC12A3	FOS	NEUROD1	BSCL2	IGF2BP2	ARL6	SLC30A8	LEP	AGPAT2	MTX2	PTF1A	IL6	PPP1R3A	DBH	ADCY3	POLD1	HNF1A	BLK	ENPP1	APPL1	MTNR1B	PTPN1	CYP19A1	AKT2	LEMD2	LIPC	CEP19	IRS1	TCF7L2	ZFP57	GATA6	LMNB2	HSD11B1	GPD2	PLIN1	IGF1	CIDEC	CEL
HP_NEONATAL_INSULIN_DEPENDENT_DIABETES_MELLITUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_INSULIN_DEPENDENT_DIABETES_MELLITUS	ABCC8	HYMAI	KLF11	GCK	KCNJ11	PDX1	BLK	NEUROD1	APPL1	STAT3	EIF2AK3	HNF1A	INS	PTF1A	PLAGL1	ZFP57	GATA6	HNF4A	PAX4	CEL	CNOT1
HP_IRREGULAR_MENSTRUATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRREGULAR_MENSTRUATION	ALMS1	PRKAR1A	PRKACA	SETD2	CYP17A1	PDE11A	CDH23	PPARG	PHKA2	HSF2BP	CYB5A	ARMC5	SLC37A4	HMGA2	MEN1	FOXL2	ERCC8	BBS9	GNAS	ERAL1	AIP	NR3C1	PHKB	LMNA	PDE8B	CYP11B1	C14orf39	IGF2	PSMB8	CDKN1C	PHKG2	ANTXR1	FMR1	GPR101	PDE4D	PLAG1
HP_HYPERALDOSTERONISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERALDOSTERONISM	SCNN1B	TP53	SLC26A3	NR3C2	SCNN1A	SLC12A3	ARMC5	KCNJ5	KCNJ1	SCNN1G	BSND	SLC12A1	KCNJ2	CYP11B2	CYP11B1	CYP11A1	CLCNKB	CACNA1D	GNAS	INSR	KCNJ16	OCRL	CLCNKA	KCNJ10	CLCN2
HP_CENTRAL_DIABETES_INSIPIDUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_DIABETES_INSIPIDUS	CDON	SHH	GAS1	FGF8	ZIC2	DISP1	GLI2	FOXH1	PTCH1	NODAL	STIL	TGIF1	DLL1	TP63	TDGF1	WFS1	AVP	CTNNB1	BRAF	SIX3
HP_ABNORMALITY_OF_THE_HYPOTHALAMUS_PITUITARY_AXIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_HYPOTHALAMUS_PITUITARY_AXIS	FSHR	TP53	NDE1	FANCM	AR	TMEM237	LHX4	YY1	CEP120	SHH	CDKN2B	NDN	RAD51	KANSL1	LEPR	GH1	HBB	OTX2	FANCC	SNRPN	CTLA4	TGIF1	PDE8B	CEP41	PROP1	TRAPPC11	FOXL2	DCAF17	TMEM67	GHSR	THRB	SOX3	CDKN1A	AIP	FANCF	SIX3	AHI1	BAP1	ERCC4	TTC26	FANCD2	PREPL	PITX2	MSTO1	PTCH1	SMARCE1	NODAL	NDNF	HSD3B2	CDON	NR5A1	ALG9	FOXH1	RRAS2	NFKB2	MEN1	POMC	FGF8	BRCC3	USP8	FGFR1	SLC29A3	TRAF7	CHD7	WT1	COG2	GPR101	EIF2S3	RRM2B	TMEM216	HESX1	FANCL	ARNT2	MARS2	AAAS	TG	TDGF1	SEMA3E	ZSWIM6	TBCK	CYP17A1	TSC1	GMNN	SOX2	BNC1	SRD5A3	SMARCAL1	MT-ATP8	WFS1	CDH23	RPS20	CTNNB1	CYP11A1	LEP	WDR4	MAD2L2	FANCA	STIL	HS6ST1	TBCE	HPGD	HLA-DPA1	IYD	ALMS1	LHX3	C14orf39	MKRN3	TDRD9	PRKACA	FLNB	DUSP6	MAGEL2	PSMC3IP	EPCAM	ZIC2	NPHP1	POR	ARMC5	POLA1	FLRT3	NANOS1	PCSK1	PRLR	PRKAR1A	ALX3	APOA5	SBDS	POU1F1	PROKR2	DISP1	ESR1	DNAJC21	KIAA0586	POU3F4	TERT	TEX11	GATA6	SLCO2A1	KATNIP	NPAP1	PDGFB	SOX10	FANCB	TMCO1	NKX2-1	DYRK1A	FANCI	OCA2	PKD1	PIK3CA	GLI2	GANAB	GHRHR	SPIDR	ADAT3	STAG3	VAMP7	ZFPM2	DCC	NR0B1	GLI3	GNAS	MLH3	VPS13B	PNPLA6	APC	TGFBR2	IARS2	INPP5E	IDH1	DHX37	MSH2	KRAS	PKD2	KCNJ11	CEP104	TSHR	TEX15	BMP4	SRP54	SRY	EDA	DHH	TRH	DUOX2	IGSF1	TSC2	FARSA	GAS1	CCDC141	DMXL2	WWOX	PI4KA	PMM2	RAD51C	FANCE	GDF9	KISS1R	ZMYND15	DLL1	BICC1	CNBP	ABCD1	RPGRIP1L	MADD	SLC16A2	BTK	PRTN3	BMPR1A	MKS1	TP63	CSPP1	DNAJB11	FAN1	SECISBP2	TEX14	SNORD115-1	ARL13B	HLA-DPB1	TMEM138	NSMCE2	KLHL10	ADGRG1	B3GLCT	CYB5A	PROK2	IDH2	BRCA2	XRCC2	TBX2	RNF216	WDR11	STX16	CEP57	CDKN1B	KIAA0753	SYCE1	SNORD116-1	MCM4	AFF4	BRCA1	ACP5	FMR1	POLR3GL	TCTN2	EFL1	BMP15	CPE	TSHB	SRPX2	SOX9	CTSK	STAG2	TACR3	FSHB	LHCGR	CC2D2A	PSMB8	PUF60	FGD1	PIBF1	CPLANE1	MT-TL1	ERCC6	NF2	SIX6	ZNF148	LARS2	STEAP3	IGF2	FEZF1	MLH1	TCTN1	FOXA2	SMO	AKT1	ADNP	TBX3	NONO	PAX8	CEP290	PALB2	SEMA3A	SMC1A	FANCG	TBX19	SEMA4A	SMARCB1	VANGL2	GAN	GPR161	SUFU	B9D1	IL17RD	MCM8	PMS2	GNB2	DUOXA2	NUP107	ANOS1	PDGFRB	MRPS22	FOXC1	PWAR1	ROBO1	PTPN22	RFWD3	HSD17B4	ESCO2	ANK1	AVP	CDKN1C	POLE	GATA4	ZNF423	BRIP1	POLR3H	FGF17	MAP3K1	GRM7	KMT2A	CBY1	ERF	MEIOB	SLX4	PMS1	SIM1	RNPC3	FIGLA	SOHLH1	TBL1X	MTHFR	PDE4D	SYCP3	SIN3A	MPDU1	PDE11A	ESR2	DMRT3	GMPPA	HYLS1	ARMC9	CFTR	MSH6	TRHR	HERC2	UBE2T	BRAF	PPP2R3C	TPO	PWRN1	ARL3	SLC35A2	TMEM231	POLR3A	IRS4	CBX2	MED12	STAT5B	THOC2	SPRY4	TAF4B	SLC5A5	RBM28	CDKN2C	SLC7A7	HFM1	WASHC5	PNLDC1	EDA2R
HP_DECREASED_FERTILITY_IN_FEMALES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_FERTILITY_IN_FEMALES	HYDIN	TUBB8	PANX1	ZMYND10	DRC1	HSF2BP	ASTL	DMRT3	DNAI1	CCDC40	RSPH3	VAMP7	MCIDAS	BLM	FOXL2	DNAH5	ZFPM2	NR0B1	BSCL2	REC114	STK36	AGPAT2	GAS2L2	GATA4	CCDC103	SOX9	DNAAF11	CFAP300	C11orf80	DNAAF2	SPAG1	ODAD1	MAP3K1	DNAL1	TTC12	CCDC39	CCNO	RSPH9	AIP	ODAD2	NR5A1	TRIP13	CFAP298	DNAAF1	FOXJ1	PGR	NEK10	DNAAF4	CDH23	ODAD3	ODAD4	CYB5A	DNAAF5	LRRC56	GGPS1	GAS8	MEN1	DHX37	RPGR	RSPH4A	FIGLA	RSPH1	ZP2	DNAAF3	DNAH9	CYP19A1	PATL2	TLE6	CCDC65	DNAJB13	OFD1	WEE2	WT1	DNAH11	WWOX	GALT	NME8	SRY	DNAI2	CYP17A1	CFAP221	SPEF2	DNAH1	DNAAF6	BTG4
HP_SECONDARY_AMENORRHEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SECONDARY_AMENORRHEA	LHB	EIF2B1	GNRHR	EIF2B4	POLG	FOXL2	PROK2	PPARG	BMP15	TACR3	HSF2BP	KISS1R	BNC1	SPIDR	CDH23	FGF17	RCBTB1	TKT	DIAPH2	POLR3H	BPTF	LMNA	SPRY4	C14orf39	EIF2B5	KISS1	TAC3	PAPSS2	NSMF	PSMC3IP	PSMD12	ERCC6	FIGLA	NUP107	NR5A1	LARS2	HAMP	ERAL1	PROKR2	CHD7	USP8	FGF8	WRN	EIF2B3	FSHR	WDR11	TBL1X	HS6ST1	FGFR1	GALT	MRPS22	GNRH1	NOBOX	DUSP6	EIF2B2
HP_INCREASED_CIRCULATING_PROLACTIN_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_PROLACTIN_CONCENTRATION	MEN1	GNAS	SUFU	CDH23	MSTO1	SMARCE1	NF2	PRLR	TRHR	PRKAR1A	CTNNB1	BAP1	BRAF	TSHB	TRAF7	TERT	PDGFB	SMO	GPR101	SMARCB1	AIP	PMM2	AKT1	PIK3CA	POLR3A
HP_PANHYPOPITUITARISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANHYPOPITUITARISM	DLL1	GLI2	GAS1	PTCH1	TDGF1	MADD	NODAL	FGF8	LHX4	LHX3	GLI3	HESX1	SHH	FOXH1	STIL	ZIC2	SIX3	SMC1A	TGIF1	STAG2	PROP1	FGFR1	GRM7	CDON	SOX3	DISP1	SUFU	POU1F1	KATNIP
HP_HASHIMOTO_THYROIDITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HASHIMOTO_THYROIDITIS	PTEN	FOXD3	TBX2	C1S	PLCG2	ITCH	POLG	SLC12A3	CLCNKB	ADA2	TTC7A	CTLA4	SEC23B	DCLRE1C	CDKN1B	IL18BP
HP_DIABETES_INSIPIDUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIABETES_INSIPIDUS	PTPN22	ALMS1	ARNT2	PTCH1	LHX4	VPS33B	CCDC28B	SOX2	CISD2	AVP	SHH	CNOT1	HLA-B	CDON	ZIC2	SIX3	PRPS1	CTLA4	TGIF1	AQP2	STAG2	BTNL2	TDGF1	STIL	WFS1	GLI2	TTC26	GAS1	FGF8	AVPR2	FOXH1	DLL1	FGFR1	STRADA	HESX1	BBS1	DISP1	NODAL	HLA-DRB1	CTNNB1	ARL6	BRAF	VIPAS39	PRTN3	SMC1A	OCRL	HLA-DPA1	TP63	PTEN	GPR161	SOX3	HLA-DPB1	PROKR2	OTX2	P4HA2	TREX1	ALX3	WDR11	GLA	AKT1	ROBO1
HP_EPISODIC_HYPERTENSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISODIC_HYPERTENSION	RET	LBX1	SDHB	VHL	MAX	TMEM127	SDHD	KIF1B
HP_OLIGOMENORRHEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OLIGOMENORRHEA	LHB	CAVIN1	PPARG	FOS	MSH5	NDN	STUB1	CDH23	LIPE	HERC2	GNAS	AGPAT2	H6PD	SNRPN	FOXL2	PWRN1	USP8	PRLR	FSHB	FANCM	MKRN3	SNORD115-1	AIP	CAV1	PLIN1	PHKA2	BSCL2	ERCC6	CISD2	LARS2	PHKB	NPAP1	MAGEL2	NR3C1	RNF216	GALT	SNORD116-1	PWAR1	CIDEC	AKT2	PHKG2
HP_11_PAIRS_OF_RIBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_11_PAIRS_OF_RIBS	FLNB	TBCK	PDPN	PRKCZ	GPX4	HSPG2	HDAC6	SOX9	SPEN	SOX2	PRDM16	RERE	ATR	GABRD	SKI	KCNAB2	SRCAP	RRAS2	CEP152	UBE4B	RPS19	DNMT3A	BMP2	TBC1D24	B3GALT6	SCUBE3	CASZ1	LUZP1	RNU4ATAC	CENPJ	LBR	SNRPB	TOR1A	MMP23B	NFASC	ATP6V1B2	B3GAT3	CHST3
HP_SHORT_STERNUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_STERNUM	BUB1B	GPC4	RBM10	GPC3	ARID1B	PCGF2	SETBP1	NOG	TMEM231	NFIX	NIPBL
HP_THIN_RIBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIN_RIBS	NEB	ORC1	LMOD3	COL11A1	EXOC6B	BIN1	DNM2	MTX2	CUL7	SOX9	PLOD1	LMNA	COL2A1	MAMLD1	KLHL41	TENT5A	SKI	BANF1	COL1A1	FAM111A	CCDC8	P3H1	AIFM1	COL1A2	TBCE	POLR3A	MTM1	PPP3CA	WNT1	HDAC6	KLHL40	LIFR	ZMPSTE24	SCARF2	MYF6	CHRNG	OBSL1	CHRNA1	ACTA1	MUSK	MTMR14	SEC24D	RTTN	TRPV6	RYR1	SERPINH1	CHRND
HP_PROMINENT_STERNUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_STERNUM	DLK1	RTL1	ZFPM2	ARSB	DYM	MEG3	WNT7A	AIFM1	GATA6	GALNS	LONP1	GLB1	PRKG2	BMP2
HP_BROAD_RIBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_RIBS	SMAD4	ARSB	SETBP1	SOST	ADAMTS10	KCNJ8	ABCC9	PTDSS1	XYLT1	PTH1R	GNPTAB	NEK9	WNT7A	COL11A1	FBN1	GLB1	COMP	TFE3	COL11A2	DYM	AMER1	SERPINH1	ATP7A	IL1RN
HP_DEFORMED_RIB_CAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEFORMED_RIB_CAGE	CYP2R1	DNAJC21	CYP27B1	SRP54	EFL1	SBDS	SLC34A3	VDR
HP_CUPPED_RIBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUPPED_RIBS	COL2A1	RTL1	MATN3	BGN	B3GALT6	SLC35D1	COL11A1	COL10A1	GPX4	PCYT1A	AIFM1	DNAJC21	SBDS	DLK1	INPPL1	IHH	MEG3	ADA	UBA1	SRP54	MMP13	DDR2	CFAP410
HP_HORIZONTAL_RIBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HORIZONTAL_RIBS	EVC	INTU	CEP120	IFT81	DYNC2LI1	CUL7	EVC2	DYNC2H1	CCDC8	WDR35	COL2A1	DYNC2I2	OBSL1	NEK1
HP_ABNORMAL_CLAVICLE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CLAVICLE_MORPHOLOGY	TRIP11	RTL1	RSPO2	ORC1	MSX2	DYNC2I1	RUNX2	LRRK1	DCHS1	FBXL3	SLC35D1	ORC4	CDC6	LMNA	HHAT	SALL4	TTC21B	KIAA0586	TNFRSF11B	FIG4	GMNN	DYNC2LI1	XYLT1	CTSK	FGFR3	IFT172	IFT140	INPPL1	ZMPSTE24	ANTXR1	AMER1	CEP120	VAC14	BGN	INTU	FLNA	TBX3	DYNC2H1	SCARF2	PIGL	KIF7	TWIST1	PTEN	SRCAP	CHRNG	IDUA	MEG3	FGFR2	EFNB1	BCOR	LRP5	LBR	DYNC2I2	TBCE	FLNB	CHD4	BMPR1A	HPGD	COL11A1	B4GALT7	CDT1	FKBP10	TNFRSF11A	MTX2	GLI3	SKI	BANF1	PAX1	PTDSS1	ATP7A	GJA1	WNT7A	EYA1	TBX15	NAA10	DYNLT2B	SLC26A2	MMP2	PTH1R	FGFR1	SETBP1	SOST	IFT81	ALX4	DLK1	IFT80	MYSM1	TBX5	MMP14	CSPP1	LEMD2	NEK1	HOXD13	PORCN	WDR19	RNU4ATAC	PCNT	SH3PXD2B	NSDHL	RBM8A	FAT4	CDC45	ORC6
HP_LONG_CLAVICLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_CLAVICLES	FLNB	KIAA0586	RTL1	HPGD	RNU4ATAC	PCNT	COL11A1	SETBP1	TBX15	DLK1	LBR	CHRNG	CSPP1	MEG3	TBCE
HP_CERVICAL_RIBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVICAL_RIBS	SON	PUF60	GPC4	AFF3	GATA6	RUNX2	ANKRD11	IFT57	RBM8A	GPC3
HP_BIFID_RIBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIFID_RIBS	CASZ1	LUZP1	SUFU	PDPN	PRKCZ	HSPG2	TMCO1	SPEN	PRDM16	RERE	GABRD	SKI	KCNAB2	PTCH2	MMP23B	UBE4B	PTCH1
HP_SHORT_CLAVICLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_CLAVICLES	TRIP11	CHD4	RSPO2	FGFR2	BGN	TBX3	MSX2	BMPR1A	XYLT1	RUNX2	ALX4	DCHS1	FBXL3	B4GALT7	ZMPSTE24	LMNA	TWIST1	PTEN	SALL4	SRCAP	NAA10	TBX5	LEMD2	HOXD13	FIG4	PORCN	DYNC2LI1	BCOR	NSDHL	IDUA	FAT4	FLNA	ATP7A
HP_LATERAL_CLAVICLE_HOOK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LATERAL_CLAVICLE_HOOK	ORC1	INTU	SKI	SLC35D1	DYNC2I1	IFT172	IFT81	DYNC2H1	SCARF2	CDT1	RBM8A	INPPL1	DYNLT2B	DYNC2I2	NEK1
HP_RACHITIC_ROSARY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RACHITIC_ROSARY	CYP2R1	CYP27B1	PHEX	SLC34A3	ALPL	CTNS	SLC34A1
HP_THICKENED_RIBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICKENED_RIBS	GLB1	IDS	MAN2B1	SGSH	SOST	NAGLU	HGSNAT	GNS
HP_RIB_FUSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIB_FUSION	PIGG	MESP2	HSPG2	CPLX1	FGFRL1	SPEN	SOX2	RECQL4	RERE	ROR2	KCNAB2	SH2B1	GLI3	LETM1	COG1	LFNG	MYH3	LUZP1	ANKRD11	CTBP1	TBX6	HES7	FOXF1	NELFA	MMP23B	RIPPLY2	CHRNG	ACTB	PDPN	ODC1	PRKCZ	DLL3	TMCO1	PRDM16	SON	SIX6	GABRD	SKI	UBE4B	NXN	NSD2	CASZ1	MAP3K7
HP_FLARING_OF_RIB_CAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLARING_OF_RIB_CAGE	RMRP	B3GALT6	GALNS	GLB1	IL1RN	DYM
HP_ANTERIOR_RIB_CUPPING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_RIB_CUPPING	COL2A1	RTL1	SLC35D1	COL11A1	COL10A1	AIFM1	DNAJC21	SBDS	DLK1	INPPL1	MEG3	ADA	SRP54	DDR2	CFAP410
HP_SPRENGEL_ANOMALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPRENGEL_ANOMALY	SUFU	RPL15	RPS24	TMEM43	GATA1	EFNB1	MEOX1	RPS20	LMNA	SF3B4	PTCH1	BRAF	ADA2	RPS19	FHL1	HSPG2	RPL27	PAX3	NPR2	CDH2	RPL35A	RPS10	RPL18	RPS17	RPS7	FLNA	SYNE1	RPS26	RPL31	RPS28	TBX3	TMCO1	MAP3K7	PTPN11	RPS15A	RAF1	TBX5	GDF6	RPL35	RPS29	RPL11	GDF3	COL3A1	TSR2	WBP11	TBX2	SEPTIN9	RPL5	SYNE2	EMD	RPL26	PTCH2	RPS27
HP_SHIELD_CHEST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHIELD_CHEST	MAP2K1	XYLT2	CHST3	TRPV4	FUCA1	POP1	KRAS	DYM	TRAPPC2	IDH1	BRAF	CILK1	SRCAP	WNT4	PTPN11	LZTR1
HP_PECTUS_EXCAVATUM_OF_INFERIOR_STERNUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PECTUS_EXCAVATUM_OF_INFERIOR_STERNUM	MAP2K1	SOS1	NF1	BRAF	PTPN11
HP_BROAD_CLAVICLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_CLAVICLES	TRIP11	MYSM1	PTDSS1	MMP2	MMP14	SOST	ATP7A	WNT7A	SH3PXD2B	PTH1R
HP_ABNORMALITY_OF_THE_COSTOCHONDRAL_JUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_COSTOCHONDRAL_JUNCTION	RTL1	ALPL	SLC34A3	SBDS	DLK1	CYP27B1	MEG3	DDR2	PHEX	CYP2R1	ARSL	FGFR3	NOG	VDR	DYM	DNAJC21	PRKG2	SRP54	CTNS	SLC34A1
HP_ENLARGEMENT_OF_THE_COSTOCHONDRAL_JUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGEMENT_OF_THE_COSTOCHONDRAL_JUNCTION	CYP2R1	CYP27B1	PHEX	PRKG2	SLC34A3	NOG	SRP54	DYM	DNAJC21	SBDS
HP_MISSING_RIBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MISSING_RIBS	FLNB	TBCK	FLI1	PTPN11	VANGL1	GPX4	CCDC22	HSPG2	SOX9	SPEN	SOX2	RERE	ROR2	KCNAB2	RSPO2	BMP2	FBN1	TBC1D24	B3GALT6	WASHC5	MYF5	LUZP1	TBX6	TOR1A	BMPER	MMP23B	IFT43	FUZ	B3GAT3	PDPN	PRKCZ	SKI	HDAC6	PRDM16	ATR	SIX6	GABRD	SRCAP	RRAS2	CEP152	UBE4B	HES7	RPS19	DNMT3A	SCUBE3	CASZ1	RNU4ATAC	CENPJ	LBR	WNT3	SNRPB	NFASC	ATP6V1B2	CHST3
HP_POSTERIOR_RIB_CUPPING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_RIB_CUPPING	MATN3	BGN	INPPL1	COL11A1	DDR2
HP_BEADED_RIBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BEADED_RIBS	TRIP11	COL1A2	LBR	PHEX	PPIB	COL1A1	CREB3L1	TAPT1
HP_PLATYSPONDYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PLATYSPONDYLY	CANT1	GLB1	COL2A1	SMAD4	RINT1	COL10A1	EXOC6B	B3GALT6	DDRGK1	PLOD1	COMP	COL11A2	SFRP4	EXTL3	GALNS	TRPV4	FKBP10	ABCC9	FGFR3	SPARC	HSPG2	SMARCAL1	ACP5	DYM	P3H1	AIFM1	RSPRY1	TRIP11	MMP13	B3GAT3	BMP1	WNT1	BGN	XYLT1	PAM16	FLNA	RAB33B	COL9A2	PCYT1A	PLCB3	RUNX2	XYLT2	SGMS2	CSF1R	SLC39A13	DDR2	MAN2B1	ACAN	LBR	GORAB	MIR140	KDELR2	ALPL	SLC29A3	RMRP	COG4	SEC24D	COL1A1	PMM2	IDH1	COL1A2	MBTPS2	PRKG2	CHST3	MRPS28	FLNB	SLC25A24	TNFRSF11A	COL11A1	PPIB	GPX4	TRAPPC2	COL9A1	PLOD3	PTH1R	LRP5	KCNJ8	INPPL1	LOXL3	TAPT1	RNU4ATAC	LFNG	NANS	FGFR1	ATP7A	OCRL	TONSL	CCN6	FN1	DHX37	KIF22	EIF2AK3	ADA	IFT43	GUSB	MIA3	CFAP410	HDAC6	NEPRO	FUCA1	PAPSS2	AGA	SLC26A2	IFITM5	PLOD2	TCIRG1	NEK1	MATN3	PYCR1	LTBP3	COL9A3	UFSP2	RPL13	SERPINH1	IDH2
HP_ABNORMALITY_OF_SKELETAL_MATURATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SKELETAL_MATURATION	TBCE	CDC6	EED	TRHR	SRCAP	XYLT1	BRAF	RRAS	CDKN1C	ITGB6	GPC3	LEPR	ABCC9	CKAP2L	AGA	FBN1	RIT1	GTF2I	CTNS	EZH2	NCF1	HSPG2	MMP13	SPRTN	KCNQ1OT1	MCM9	DCAF17	IGFALS	ALDH18A1	GHSR	SOS1	EIF4H	TP53	NELFA	ERCC3	AIP	GPC4	MPLKIP	MALT1	IGF2	MSTO1	LETM1	CANT1	LPIN2	NDNF	CYP19A1	RSPRY1	SMARCA4	POMC	CHD7	RNF13	EVC2	PTEN	FAM111A	OBSL1	GTF2E2	NFIX	CHP1	WT1	GPR101	FGFR1	RRM2B	DUSP6	SMC3	CHST3	CAVIN1	SLC25A24	GNRHR	TBCK	CYP17A1	GMNN	B4GALT7	SBDS	SMARCB1	BNC1	MT-ATP8	GLI3	CENPT	CPLX1	SIN3B	MRAS	LEP	WDR4	SLC10A7	ZEB2	BCL7B	HS6ST1	ARID1A	TONSL	KARS1	DYNC2LI1	DDX6	PIK3C2A	ALMS1	OTX2	NIPBL	CD96	SOX11	LHCGR	NSMF	PSMC3IP	POR	PDE4D	STAT1	TARS1	FLRT3	ATRX	PCSK1	ARID1B	ESR1	DNAJC21	POU3F4	FGF8	METTL27	RNU4ATAC	COL2A1	NR5A1	SOX10	HSD11B1	NSD2	CREBBP	BRF1	TAF13	GDF5	RPS6KA3	ALG9	SMC1A	ANKRD17	SCARB2	CENPJ	GHRHR	SPIDR	TACR3	LONP1	RAD21	VAMP7	INSR	ZFPM2	DCC	NR0B1	GNAS	LSS	SMARCA2	ELN	TSHR	GBA	FSHB	RFC2	KRAS	NGLY1	LHX4	FARSB	INPPL1	QRICH1	PROKR2	LIG4	LTBP3	FKBP6	SPRED2	PAM16	BRD4	TAB2	MECP2	NSD1	ERCC5	SLC26A2	SRP54	ATR	SMARCD1	PIK3R1	TRH	CSGALNACT1	PTH1R	POLA1	CCDC141	CTBP1	WWOX	BUD23	ANAPC1	CYP11A1	NBAS	DNAJC30	MBTPS2	NR2F1	KISS1R	PCNT	TMEM67	MADD	CDT1	VPS37D	THRA	DVL1	PPP1CB	HMGA2	BTK	IGF1R	PTDSS1	PEX1	NPR2	CCDC8	PIGT	CYP11B1	SECISBP2	SLC29A3	KISS1	TAC3	EP300	BSCL2	CYB5A	PROK2	GHR	GPX4	MRPS22	H19	ORC6	CEP57	TRPS1	KMT2A	WNT5A	COX4I1	LGR4	KCNJ2	PTPN11	WDR11	ORC1	PIGG	EFL1	MLXIPL	SRY	BMP15	HDAC8	ORC4	ARID2	ROR2	GH1	FGF17	DONSON	TSHB	FLNB	STAT5B	SOX9	RAF1	DDOST	CEP152	LIMK1	SPRY4	PRKAR1A	UBR1	ANTXR1	HSD17B4	POP1	MT-TL1	FEZF1	ARCN1	ACAN	SUZ12	PPARG	GLI1	FOXA2	MKRN3	HUWE1	CCBE1	HESX1	ZNF699	CENPE	PAX8	XPA	SOX4	SETD2	SMARCC2	SEMA3A	AGPAT2	BMP2	TET3	PAX1	EYA1	PPP1R15B	SHOC2	MC2R	NIN	KIF15	SLC7A7	CUL7	EXT1	IL17RD	SHANK3	GTF2H5	SMARCE1	EVC	NSUN2	NUP107	ANOS1	PDGFRB	NRAS	SOS2	ERCC4	FSHR	TBL2	ITCH	ERCC2	IFT57	CDC45	RBBP8	XPC	IGF1	RASA2	SOX3	APC2	FGFRL1	SLC35D1	PROP1	MVK	SMPD1	AHSG	NUP85	DDB2	H1-4	GATA4	ENPP1	TMEM270	POLR3H	ANKRD11	MAP3K1	IHH	AIFM1	NMNAT1	DPF2	DPP6	ATRIP	CAV1	B3GAT3	RECQL4	RNF135	STX1A	RNPC3	SIN3A	ASXL2	POU1F1	BAZ1B	FMR1	RNF113A	NEU1	MAP3K7	RRAS2	PLK4	GNRH1	RMRP	PRKG2	LZTR1	MEN1	GTF2IRD2	GLI2	FOS	PCGF2	DMRT3	KCNJ8	MSMO1	PPP2R3C	HRAS	PTCH1	KCNQ1	GJA1	PEX6	TRAIP	DHX37	SOHLH1	PPP1R21	RBM28	CLIP2	CBL	EXTL3	COX4I2	GTF2IRD1	TRPV4
HP_CHONDROCALCINOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHONDROCALCINOSIS	CDC73	GCM2	GNA11	SLC12A3	PDGFRB	TNFRSF1A	KCNJ1	SLC12A1	ALPL	FXYD2	MEN1	ATP7B	WRN	NOTCH3	AP2S1	ANKH	MEFV	TNFRSF11B	LMNA	HYAL1	CLCNKB	ATP7A
HP_THICKENED_CORTEX_OF_LONG_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICKENED_CORTEX_OF_LONG_BONES	ANO5	FAM111A	MAN2B1	SOST	LIFR	SETBP1	LRP5	TRIM37	TGFB1	TBCE	COL1A1	NF1
HP_OSTEOPENIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOPENIA	ELN	EFL1	MLXIPL	BMP15	ALDH18A1	EED	SLC34A1	PLOD1	GFI1	NDN	BRAF	FGF17	MGAT2	DPM2	GCM2	PLEKHM1	HRAS	GTF2I	SNRPN	NCF1	CTCF	TERT	DDOST	TMEM67	DCAF17	LIMK1	SPRY4	FBN2	SLC39A8	EIF4H	ANTXR2	TCF4	GNPTAB	ERCC3	SATB2	TTC26	HSD17B4	MPLKIP	IER3IP1	MMP2	STX3	DCHS1	KRAS	DUSP6	ZMPSTE24	NRAS	STN1	RSPRY1	HBB	SGMS2	GPAA1	MAFB	PYGL	CYP27A1	LRP5	SLC39A13	KNSTRN	CHD7	ANO5	UROS	GTF2E2	GORAB	FKBP14	STAT1	WDR11	FOXA2	NOTCH2	FGFR1	TRPS1	SEC24D	RNF125	COL5A2	TMEM38B	HESX1	ZNF699	PIGT	CHST3	GNRHR	STAT3	HPGD	MDM4	SLC37A4	B4GALT7	FUT8	CRIPT	BNC1	LMNA	SMARCAL1	SLC10A1	GNPAT	COG1	ALG3	BCL7B	FBN1	SKI	TONSL	ELANE	CTC1	SRP54	ESR1	MKRN3	OTX2	PMM2	IL1RN	MIA3	NF1	XYLT2	SLC17A5	NAGA	NSMF	MAGEL2	PSMC3IP	GTF2H5	OCA2	TARS1	IFITM5	NUP107	PDGFRB	CYP3A4	SBDS	GNAS	PLOD2	PROKR2	DNAJC21	FSHR	METTL27	NPR2	TBL2	NPAP1	NR5A1	ERCC2	MRPS22	PWAR1	FAT4	TRPV6	MAN2B1	TCIRG1	IGF1	PLS3	SCARB2	AFF3	LIFR	MBTPS2	TACR3	B3GALT6	PIK3CD	SLC12A1	SPIDR	PROP1	PSAP	SMPD1	AVP	SLC9A3R1	POLE	TMEM270	CAVIN1	GBA	POLR3H	RFC2	LHX4	FARSB	SEMA4D	P3H1	ATP6V0A2	PRLR	FKBP10	SMARCD2	TREM2	HECW2	B3GAT3	COL1A1	RECQL4	FKBP6	SIM1	CDH23	STX1A	IRX5	KCNJ1	KL	PIGY	P4HB	POU1F1	GZF1	GLIS3	BAZ1B	MMP1	RNF113A	FGF8	ATP8B1	HNRNPK	IL17RD	ADAMTS2	COL7A1	ADAMTSL2	USP9X	HS6ST1	BUD23	ANAPC1	GNRH1	DNAJC30	CRTAP	KISS1R	PROK2	FLRT3	GTF2IRD2	GLI2	PAPPA2	UROD	MTX2	SEC23A	PLOD3	CCND1	VPS37D	POC1A	MEN1	HERC2	UNC80	PDE11A	GPR35	TAPT1	IARS2	SOX3	SLC2A2	MST1	FBLN5	ATP7A	PWRN1	GEMIN4	SLC35A2	PRKACA	AIP	CDC73	SNORD115-1	PIGU	COL5A1	POLR3A	FGFR2	KISS1	MTTP	TAC3	PYCR1	GATA1	PRKAR1A	MMP14	RPL11	PTH1R	CREB3L1	TAF1	CYP19A1	SLC7A7	CLIP2	SH3PXD2B	SNORD116-1	COX4I2	GTF2IRD1	ADCY10	MTAP	AEBP1	RNU4ATAC	SERPINH1
HP_OSTEOPOROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOPOROSIS	CANT1	TNPO3	PIGG	TERC	MLXIPL	WNT1	POF1B	DKC1	BMP15	LRP5	PLOD1	NDN	IFT122	FGF17	FKBP10	TINF2	ABCC9	RRM2B	G6PC1	HBB	ASAH1	GTF2I	SOX9	PEX12	SNRPN	NCF1	HSPG2	SLC34A1	PDE8B	LAMA3	LIMK1	SPRY4	TERT	EIF4H	CYP27A1	ANTXR2	TCF4	NELFA	MED12	MMEL1	RUNX2	MALT1	GNAS	MMP2	LIFR	LETM1	SRSF2	TWNK	DUSP6	CTDP1	LMNA	LARS2	HJV	SGMS2	IL12A	PYGL	CTC1	RPL10	NSD2	CHD7	USP8	PHKB	WRN	LRP6	GORAB	WDR11	FOXA2	SMPD1	WT1	CBS	PROK2	NOTCH2	FGFR1	GALT	NHP2	POLG	SMAD3	DPAGT1	ATP7A	HESX1	PHKG2	RAB3GAP1	RNU7-1	CHST3	GNRHR	TBCK	HPGD	NOP10	SC5D	HLA-DQA1	SLC37A4	IL12RB1	BNC1	CDH23	AEBP1	CPLX1	NPM1	LAMC2	BCL7B	B3GALT6	COL2A1	SMS	ARMC5	ERCC6	SP7	LAMB3	NDUFAF1	MKRN3	AIP	OTX2	RTEL1	NF1	SLC7A7	PRKACA	SLC25A4	POLD1	NSMF	UROS	MAGEL2	PHKA2	PSMC3IP	OCA2	STAT1	CCN6	POLG2	TMEM165	TNFRSF11B	WDR35	NUP107	GLB1	VPS53	WDR19	WNT3A	PROKR2	ATP7B	ESR1	FSHR	METTL27	SLCO2A1	TBL2	NPAP1	NR5A1	TET2	TGFBR2	COL1A2	MRPS22	PWAR1	SRY	PARN	CYP17A1	ANAPC1	POU2AF1	IFT43	PLS3	RUNX1	CDC73	TACR3	PDLIM4	HSD17B4	MTRR	VAMP7	SPIDR	PROP1	ZFPM2	FAT4	GALNS	GK	NR0B1	ELN	SLC9A3R1	GATA4	USB1	TMEM270	TENT5A	CAVIN1	SPARC	POLR3H	MAP3K1	RFC2	RECQL4	LHX4	SEMA4D	PRLR	TRIP11	B3GAT3	BMP1	SRC	FKBP6	ZBTB20	GCM2	ASXL1	SIM1	STX1A	ALB	PCCB	IRF5	SPIB	ASXL2	HFE	POU1F1	BAZ1B	XYLT2	MMP1	GPAA1	FGF8	IL17RD	COL7A1	CTBP1	COL1A1	WWOX	ADAMTSL2	KDELR2	HS6ST1	BUD23	GNRH1	ZNF469	CYP11A1	PMM2	DNAJC30	HTRA1	NGLY1	PRKAR1A	FLRT3	GTF2IRD2	BMP2	PDE11A	ESR2	GLI2	TRAPPC2	UROD	KISS1R	DMRT3	SLC25A19	CBL	HSD3B7	VPS37D	MEN1	KCNJ8	HERC2	CALCR	PCCA	TNFRSF11A	GPR35	TRMT10A	SOX3	BANF1	MST1	ADAMTS2	IFT52	PWRN1	HAMP	PIGT	TNFSF15	EIF2AK3	SNORD115-1	DKK1	HLA-DQB1	KISS1	TAC3	LMX1B	CYB5A	GATA1	DHX37	PLOD2	WRAP53	MMP14	RPL11	IFIH1	PRDM5	CYP19A1	CLIP2	SH3PXD2B	SNORD116-1	PYCR1	GTF2IRD1	ADCY10	RIN2	NFIX	IGF1	RNU4ATAC	KIT
HP_ABNORMAL_DIAPHYSIS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DIAPHYSIS_MORPHOLOGY	FAM111A	PRKACB	DDRGK1	TMEM216	NDN	SFRP4	TRPV4	KANSL1	MMP9	RBM8A	HBB	FGFR3	NKX3-2	GTF2I	KLHL41	BCOR	NCF1	HSPG2	MMP13	FBN2	EIF4H	RUNX2	TGFB1	IDUA	SATB2	LIFR	BMPR1B	GNPTG	COL11A2	FIBP	DYNC2H1	B9D1	EXT2	RSPRY1	DDR2	ANO5	EVC2	DMP1	GORAB	NFIX	COL1A2	COL2A1	CRKL	SLC26A2	ATP7A	HOXA11	CHST3	CLCN5	B4GALT7	PUS3	RECQL4	CENPT	LMOD3	COL10A1	RMRP	EHHADH	SLC10A7	ZEB2	BCL7B	SKI	HPGD	LMBR1	TONSL	WNT7A	SPTBN1	DYNC2LI1	FAM20C	SLC34A3	MKRN3	SMOC1	TNFRSF11A	COL9A3	FGF23	FLNA	NEPRO	POR	CCN6	ATRX	WDR35	CYP3A4	PLOD2	PTPN11	METTL27	SLCO2A1	RNU4ATAC	NPAP1	COL11A1	FIG4	RPL13	ZPR1	IDS	ENPP1	LONP1	GALNS	FGFR2	ELN	VPS13B	TNFRSF11B	ACTA1	TENT5A	SNRPN	COL9A1	MAN2B1	RFC2	IARS2	INPPL1	MEGF8	KIF22	FKBP6	COL9A2	SOST	NSD1	CSGALNACT1	PHEX	CYP2R1	MAGEL2	WDR19	BUD23	ANAPC1	DNAJC30	TCTN1	GLI3	SLC34A1	FLNB	EVC	TMEM67	SNX10	GNAS	CLTCL1	SOX9	VPS37D	LOXL3	GUSB	MATN3	CFL2	FGFR1	TMEM107	COG5	FN1	TBCE	TFE3	EIF2AK3	SNORD115-1	PEPD	MKS1	ARSB	DYM	PAPSS2	CC2D2A	PYCR1	B2M	DLK1	NF1	IFIH1	COL1A1	ORC6	STX16	IFT172	NEK8	TRPS1	KIAA0753	SNORD116-1	RPS6KA3	TRIP11	ACP5	GDF5	SERPINH1	OCRL	CANT1	RSPO2	MLXIPL	DYNC2I1	VPS35L	LRP4	COMP	IFT122	RIPK4	ESCO2	FKBP10	PMP22	AIP	MCTP2	C12orf57	TCTN2	LIMK1	NPR2	GLB1	VAC14	BGN	XYLT1	SHH	EXT1	TPM2	CSPP1	UGP2	TMEM237	SGMS2	ACAN	SHOX	GLI1	CBS	ALPL	NOTCH2	KAT6A	VDR	LRP5	IDH1	TMEM38B	TBXAS1	ZNF699	BRAF	BPNT2	ORC1	RPGRIP1L	POLR1A	CEP290	IHH	FBN1	B3GALT6	CLCN7	TUBB3	CTC1	GAN	IFT43	CDC45	PTH1R	SETBP1	TNFSF11	TMEM165	RAB23	RPGRIP1	MAPK1	ANTXR2	KIF7	PTDSS1	TBL2	NEB	IFT57	PWAR1	TRPV6	UFSP2	PRKACA	TMEM231	MPZ	RTL1	B9D2	SLC35D1	CYP27B1	MAP2K1	TMEM270	P3H1	ATP6V0A2	B3GAT3	ZBTB20	NDUFAF6	STX1A	RAB33B	SCARF2	PCYT1A	BAZ1B	MEG3	TCTN3	KRAS	HS2ST1	HS6ST1	EFL1	KDELR2	SEC24D	LBR	TXNDC15	P4HB	CRTAP	PRKG2	GPR101	P4HTM	BHLHA9	BCR	GTF2IRD2	MTX2	HERC2	TCIRG1	SPART	SLC2A2	GJA1	IFT52	PWRN1	MAP2K2	IPO8	CTNS	POLR3A	MAP3K7	CYP19A1	CA2	PCNT	CLIP2	SH3PXD2B	GTF2IRD1	MTAP
HP_DYSOSTOSIS_MULTIPLEX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSOSTOSIS_MULTIPLEX	FUCA1	ARSB	KRAS	AGA	CTSA	GNPTG	NAGLU	HGSNAT	GNS	FGFR1	IDUA	TMEM251	NEU1	SUMF1	MAN2B1	IDS	GNPTAB	VPS33A	SGSH	GLB1	GNE	GUSB
HP_ABNORMALITY_OF_THE_METAPHYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_METAPHYSIS	CANT1	EFL1	DKC1	IL7R	EXOC6B	DDRGK1	EED	CDKN1C	COMP	IFT122	SMAD4	XYLT1	RAG2	SFRP4	LPIN2	PITX1	ABCC9	MMP9	AMMECR1	TCIRG1	INPPL1	FGFR3	NKX3-2	EZH2	HSPG2	MMP13	AIFM1	ANKH	PISD	OSTM1	IFT140	COL11A2	GNPTAB	TGFB1	ANTXR1	AMER1	CEP120	VAC14	BGN	RAG1	COL2A1	MMP2	PEX5	LIFR	PEX7	CENPE	POP1	EXT1	DYNC2H1	LMBR1	EXT2	RSPRY1	EIF2AK3	CSF1R	TP53	LRP5	CTC1	SLC39A13	DDR2	ARCN1	NOTCH3	SUZ12	RASA1	ALPL	NOTCH2	VDR	CASR	SLC29A3	RMRP	VPS33A	IDH1	SNRPN	TBXAS1	SLC26A2	ATP7A	CHST3	GPX4	PDGFRB	CLCN5	B4GALT7	SBDS	NPM1	TRPV6	COL10A1	ACSL4	ALG3	FBN1	NANS	COG4	SKI	B3GALT6	NPR2	CLCN7	OCRL	TONSL	CHEK2	FN1	PIK3C2A	ACAN	GPC6	GJA1	RTEL1	SRP54	DYNC2I1	PTH1R	WDR26	HDAC6	NEPRO	SHOX	SLC17A5	TNFSF11	TMEM165	WDR35	GLB1	CSPP1	CYP3A4	ADA	WDR19	OBSL1	DNAJC21	MATN3	PORCN	PTDSS1	RNU4ATAC	COL11A1	NHP2	PARN	UFSP2	MAGEL2	DYM	FIG4	FLNA	RPL13	IFT43	TRIP11	NDN	RTL1	LRRK1	SLC35D1	CUL7	LONP1	EXTL3	GALNS	CYP27B1	TTC21B	DCLRE1C	KIAA0586	POLE	TNFRSF11B	USB1	IL2RG	FAM111A	ACP5	CYP2R1	IFT172	DYNC2I2	RB1	QRICH1	B3GAT3	SIK3	KIF22	RECQL4	BMPR1B	PAM16	RAB33B	PCYT1A	PLCB3	CHD7	TRPV4	RUNX2	MEG3	PHEX	MIR140	TERC	ANAPC1	SEC24D	LBR	P4HB	PRKG2	PCNT	TNFRSF11A	SNX10	DYNC2LI1	PLEKHM1	TRAPPC2	SLC34A3	GNAS	NOP10	KCNJ8	TAPT1	IARS2	IFT52	CCN6	CCDC8	ALG9	CTNS	CFAP410	NSMCE2	ARSB	SETBP1	MAP3K7	DLK1	IFT80	LEMD3	NSD1	TINF2	WRAP53	ERCC1	TERT	LIG4	STX16	KCNE5	SH3PXD2B	MTAP	PTPN11	ACVR1	CWC27	IDH2
HP_HYPOPLASTIC_ILIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_ILIA	EVC	RTL1	COL2A1	SMAD4	RUNX2	B3GALT6	SLC35D1	EED	SOX9	KAT6B	TRAPPC2	RIPK4	ERCC8	TBX15	IHH	TMEM251	FGFR3	NKX3-2	FLNB	HSPG2	CTSK	ACP5	TMEM67	DYM	FN1	INPPL1	COL11A1	POLR3A	HDAC6	EZH2	SLC26A2	ARSB	EP300	LIFR	IFT81	POP1	FLNA	PCYT1A	DLK1	MEG3	RPS19	EXOC6B	GATA1	ERCC6	MAN2B1	RNU4ATAC	PCNT	CREBBP	WDR19	EVC2	COL11A2	RMRP	CCBE1	WNT7A
HP_DUMBBELL_SHAPED_LONG_BONE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUMBBELL_SHAPED_LONG_BONE	INPPL1	COL2A1	SLC35D1	COL11A1	SLC26A2	COL11A2
HP_JAUNDICE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JAUNDICE	AKR1D1	TNPO3	UGT1A1	PKLR	RINT1	EPB41	SLCO1B3	CYP7B1	LBR	SLC25A13	MPV17	ABCC2	ETFDH	SLC4A1	TSHB	RHAG	PFKM	HBB	G6PD	PRPS1	PEX3	CTCF	PTPN3	TSHR	TCF4	MED12	MMEL1	SPTB	UNC45A	PIEZO1	DZIP1L	SLCO1B1	TTC26	NR1H4	PROP1	ATP8B1	IER3IP1	SLC16A2	TPI1	ALDOA	RAB27A	ALDOB	EIF2AK3	BRCA1	IL12A	CYP27A1	SMPD1	LPL	KRT8	GALT	DEF6	PRF1	ACADVL	DPAGT1	SPTA1	RNASEH2C	TG	NSD1	ATP7A	IFIH1	GCLC	PALB2	HSD3B7	RNASEH2B	IL12RB1	ABCD3	LHX4	LHX3	SLC10A1	SETD2	CALR	SMAD4	VIPAS39	STX11	FCGR3B	POU1F1	PEX16	PEX14	PEX6	TBX19	PRSS1	PRSS2	PEX19	SPTBN1	LYST	IYD	SERPINA1	MMACHC	PAX8	TP53	PEX12	PALLD	HNF1B	SLC2A1	CTRC	PKHD1	DUOXA2	JAG1	SLC37A4	HYOU1	TRMU	ATP11C	FLI1	CPOX	ABCB4	DCDC2	HK1	CDAN1	CASR	RNU4ATAC	SPINK1	PEPD	NPC2	HMGCL	CPA1	PIGA	POU2AF1	SP110	SAMHD1	SLC44A1	APC2	PEX1	VPS33B	DHFR	KMT2E	CLDN1	EPB42	ADAR	PEX11B	SEC23B	PRKAR1A	KCNN4	RABL3	BPGM	GALE	SEMA4D	PEX10	PEX13	GYPC	OCLN	PEX5	NKX2-5	PEX26	KRT18	GLRX5	SLC30A10	CDKN2A	DGUOK	IRF5	SPIB	ABCB11	DUOX2	ETFB	CDIN1	ANK1	BAAT	GALK1	JAK2	ALG6	ATP6AP1	TFAM	GPI	SPOP	ATP7B	TRHR	HESX1	RHD	GPR35	RHCE	LIPA	CFTR	BRCA2	NPC1	PEX2	ARL13B	MST1	TPO	TNFSF15	STXBP2	IL2RG	USP53	TTC37	UNC13D	TREX1	SLC51B	GALM	HBG2	NBAS	ATP6AP2	AMACR	CCDC115	YARS1	SLC5A5	COG7	SLC26A4	KRAS	ETFA	F5	POLG2	RNASEH2A	COX4I2	KIF12	IL18BP	ADAMTS13	CASK	PARS2
HP_HYPERPIGMENTATION_OF_THE_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPIGMENTATION_OF_THE_SKIN	RERE	TNPO3	RAF1	SETBP1	CTLA4	DKC1	NTNG2	ZMIZ1	RTEL1	TRMT1	KIT	CDKN2B	SKIV2L	RAD51	BRAF	POLA1	ABCD1	SMG8	KANSL1	TXNRD2	TINF2	HBB	FANCC	PDE8B	DOCK3	TRAPPC11	NF1	KRT5	TERT	TSC2	MED27	MLH1	TWIST2	CDKN1A	FANCF	HCCS	ERCC4	FANCD2	MMP2	ZMPSTE24	NF2	HSD3B2	BRIP1	CD28	GJA1	IL12A	CTC1	USP8	PTEN	SLC29A3	PLEC	TSC1	ACTL6B	RPS27	ESCO2	SALL4	NHP2	EMC10	MRAP	FANCG	FANCL	LMNA	DPYSL5	AAAS	POGLUT1	KDSR	CARD14	PLAG1	PTPN23	KDM5C	TRIP12	SDHD	VHL	NOP10	PTPN11	IL12RB1	NRAS	SRD5A3	SMARCAL1	CASR	CDH23	GJB6	MAPK8IP3	CYP11A1	SDHC	BUB1B	KCNMA1	PAX6	MAD2L2	MTX2	FANCA	TNFRSF1B	COPB1	RIT1	KNSTRN	HRAS	KDM6A	FBXW11	WDFY3	KCNN3	BPTF	TCF20	PRKACA	TTC37	UROS	MED12	SMS	PRKAR1A	IFNG	MTOR	TMEM127	PIGN	BCORL1	RLIM	SDHB	AKT1	CREBBP	CEP57	FANCB	CCDC32	NCF4	ARL6IP6	FANCI	MYT1L	USF3	POU2AF1	COL3A1	MEN1	INSR	NR0B1	LEMD3	GNAS	USB1	PMS2	APC	SLC12A2	ERCC8	DNASE1L3	CPOX	RET	UBR7	KMT2E	RBBP8	TNFRSF1A	SLC27A4	HJV	SOX10	GRIA4	MAPRE2	HMGA2	HPDL	IRF5	ERCC5	KRT14	SPIB	JAK3	HFE	BLM	ATP2A2	KLLN	TERC	ANAPC1	PANK2	REV3L	RAD51C	FANCE	IL6	DSTYK	TCF7L2	PCNT	CLTRN	TFR2	PHIP	PUS7	BMP2	KCNH1	UROD	SYNCRIP	PPP1CB	AGO2	PIK3CD	LYST	HAMP	CYP11B1	BUB1	RNF2	ZFHX4	NTNG1	ABCB6	SDHA	PALB2	ALDH3A2	SLC40A1	TUBB	ANTXR2	TRIP13	EP300	COX7B	SPTBN1	PIK3CA	KIF1B	CNOT3	ERCC6	COL25A1	BRCA2	XRCC2	WBP11	PLXND1	NDUFB11	KAT8	SETD1A	MCM4	ATP6V1B2	HLA-DRB1	WASF1	BRCA1	SVBP	SLC6A19	PPOX	KDM6B	STK11	IRF4	CSTA	SNRPN	KRAS	KDM4B	AIP	LBR	PSMD12	MED13	MAX	BTNL2	SPRED1	STAR	CLCN3	IGF2	POFUT1	MMEL1	PSMB8	TMC8	SLX4	KMT2D	MAN1B1	TOP3A	TGM5	TP63	CYBB	IL7	STEAP3	LZTR1	NCF2	NOTCH3	TNRC6B	PSENEN	NSD1	CDKN1C	TANC2	ERCC1	FGFR3	XPA	PDGFRB	DDX6	CRIPT	BCAS3	FGFR1	SETD2	SHOC2	NPM1	MADD	CBL	PALS1	NNT	HPS1	GJB3	PDGFRA	ST3GAL5	MSH2	SASH1	ACTL6A	MC2R	GPNMB	APOE	COL7A1	GNA11	GNB2	UBR1	ACD	PORCN	BUB3	MAPK1	C1S	TMC6	PARN	XPC	MAFB	CHN1	ALAS2	HS2ST1	ANKRD17	FANCM	APC2	SEC23B	SRCAP	MC1R	NCF1	CYBA	SATB1	DDB2	MAP2K1	MAP2K2	ACP5	HTT	MYO5A	RECQL4	ACTB	SMARCAD1	CDKN1B	ATM	ADH5	HGD	RBM28	UBE2A	LMBRD2	MSH6	SIN3A	GPR101	PDE11A	SEC23A	GMPPA	UBE2T	NBN	NOD2	FERMT1	GJB4	KITLG	ERCC3	BANF1	IKBKG	OCA2	TNFSF15	CIB1	SPINK5	POLH	GATA1	RFWD3	WRAP53	HUWE1	ERCC2	CDKN2C	SH3PXD2B	TRAPPC4	CYBC1	GNAQ	GBA	ADAR	IGF1	CWC27	C1R	JARID2
HP_SINGLE_TRANSVERSE_PALMAR_CREASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SINGLE_TRANSVERSE_PALMAR_CREASE	FGF9	APC	RPL10	HDAC8	RAD21	KDM4B	TRIM8	ESCO2	CKAP2L	MCTP2	FIG4	SMOC1	PEX12	CTCF	CTBP1	ROR2	RAB11B	DOCK6	RPS23	HDAC4	FGFR2	TFAP2A	NUP188	VAC14	KAT6B	PUF60	TCF12	FGD1	XYLT1	RBM10	LIFR	VPS51	TWIST1	DLX4	PTPRF	NALCN	LMX1B	PEX14	NECTIN1	NEXMIF	PEX5	DPAGT1	CCBE1	SMC3	TBX4	GLE1	BHLHA9	EHMT1	PNPLA6	WAC	KATNB1	PACS1	DIS3L2	B4GALT7	TSEN34	GDF5	TSEN15	NUP107	PEX6	SMS	SEPSECS	PEX19	PIGS	SPTBN1	PEX1	TCF4	UBR7	BMPR1B	IFT43	NIPBL	TASP1	EXT1	MED25	STXBP1	TELO2	MYH3	GNB2	TSEN54	PEX2	UBR1	ARID1B	NXN	GATA1	LONP1	RNU4ATAC	ITCH	NSD2	CREBBP	BRF1	IFT57	RPS6KA3	TRIM37	PEX11B	MAP1B	SMC1A	PKDCC	RTL1	KCNK9	AFF3	ADNP	TPM2	NOG	CPLX1	FGFRL1	PLAA	COX14	TNNI2	EXTL3	G6PC3	STAG1	VPS13B	PPP2CA	ANKRD11	PEX13	TSEN2	OFD1	UBE3B	CHST3	SMARCAD1	BRD4	SMPD4	BMP4	CDK19	ATR	FGFR3	CSGALNACT1	MEG3	FOXP1	PEX16	TGDS	ARL3	NBAS	MSL3	SIN3A	NGLY1	IFT122	CD96	DPH1	PEX26	LETM1	DLK1	MED12	ZNF292	PDHA1	PEX10	ZNF462	PEPD	FLNA	ZMYM2	EP300	SETBP1	MAP3K7	THOC2	B3GLCT	DDX11	CEP57	PIEZO2	TRPS1	RIN2	CEP55	IGF1	TNNT3	PEX3
HP_ACANTHOSIS_NIGRICANS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACANTHOSIS_NIGRICANS	PKDCC	CAVIN1	ALMS1	FGFR3	PPARG	FOS	INSR	CLDN1	LIPE	BSCL2	XRCC4	AIP	AGPAT2	HRAS	COPB1	ERF	FGFR2	TFE3	ESR1	SMARCD2	PSMB8	PSMB4	CAV1	POLR3A	PLIN1	PEX6	NSMCE2	PSMB9	SPINK5	LMNA	MC4R	PCSK1	ELOVL1	PEX1	CYP19A1	POMC	CIDEC	JUP	GPR101	HSD11B1	AFF4	CUL4B	AKT2
HP_CAFE_AU_LAIT_SPOT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAFE_AU_LAIT_SPOT	RERE	KDM6B	RAF1	SETBP1	NTNG2	ZMIZ1	TRMT1	SKIV2L	RAD51	MTOR	NRAS	KANSL1	KDM4B	FANCC	PSMD12	MED13	DOCK3	MAX	NF1	TSC2	SPRED1	MED27	MLH1	CLCN3	TWIST2	IGF2	FANCF	TMC8	ERCC4	SLX4	FANCD2	KMT2D	MAN1B1	TOP3A	NF2	BRIP1	FANCI	IL7	STEAP3	LZTR1	PTEN	TSC1	ACTL6B	TNRC6B	ESCO2	BRCA2	EMC10	FANCG	FANCL	DPYSL5	FANCE	FANCA	CDKN1C	TANC2	BRAF	TP63	PLAG1	PTPN23	KDM5C	TRIP12	SDHD	VHL	PTPN11	DDX6	BCAS3	PALB2	SHOC2	MADD	MAPK8IP3	SDHC	BUB1B	KCNMA1	MAD2L2	CBL	PALS1	SDHB	COPB1	MSH2	KDM6A	FBXW11	WDFY3	ACTL6A	BPTF	TCF20	TTC37	MED12	GNB2	PRKAR1A	UBR1	IFNG	TMEM127	BCORL1	RLIM	BUB3	AKT1	MAPK1	CREBBP	CEP57	TMC6	FANCB	CCDC32	ARL6IP6	MYT1L	ANAPC1	USF3	HS2ST1	ANKRD17	FANCM	SEC23B	SRCAP	MEN1	SATB1	MAP2K1	PMS2	APC	SLC12A2	RET	HTT	UBR7	KMT2E	RBBP8	SOX10	MAP2K2	GRIA4	HMGA2	HPDL	ATM	KRAS	BLM	KLLN	REV3L	LMBRD2	RAD51C	MSH6	SIN3A	TCF7L2	PCNT	PHIP	PUS7	SVBP	SYNCRIP	UBE2T	NBN	PPP1CB	AGO2	KITLG	ABCB6	BUB1	RNF2	WASF1	ZFHX4	NTNG1	CIB1	TRIP13	EP300	SPTBN1	PIK3CA	KIF1B	CNOT3	RFWD3	HUWE1	COL25A1	XRCC2	WBP11	PLXND1	KAT8	SETD1A	SH3PXD2B	TRAPPC4	BRCA1	IGF1	CWC27	JARID2
HP_DRY_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DRY_SKIN	EDARADD	RAF1	CTLA4	OFD1	IL7R	KRT14	ERCC6	SKIV2L	EDAR	RIPK4	TWIST2	RAG2	SMG8	ABCA12	TSHB	CDK4	TRPM1	ERCC3	KYNU	SLC5A5	DDOST	WNT10A	MBTPS2	GSN	ABCA1	NAGA	MPLKIP	RAG1	INSR	BAP1	ALOXE3	CD28	KANSL1	ERCC5	PEX7	GTF2E2	NOTCH2	HESX1	NTRK1	IDH1	RNASEH2C	ERCC2	KDSR	ATP7A	PAH	IFIH1	RNU7-1	BRAF	TP63	OSMR	NIPAL4	PAX8	RNASEH2B	XPA	RALGAPA1	EDA	CASR	ERCC8	TNFRSF1B	GJB3	FGFR1	ALOX12B	ERCC4	GPNMB	SOX3	KIF15	TTC37	GNA11	FUCA1	GTF2H5	TARS1	NSUN2	GNB2	IFT43	ELOVL1	FLG	ADA	PROKR2	RNF168	TERF2IP	CST6	RNU4ATAC	CSTB	ACD	MAPK1	KRT1	PEX11B	TRIP4	XPC	GINS1	SAMHD1	EXOC2	UVSSA	ARNT2	SPEN	STS	SOX2	PRKD1	ADAR	DCLRE1C	DDB2	IL2RG	MAP2K1	CLDN1	WNT10B	LIG4	CDKN2B	POT1	SLC39A4	MPDU1	CHD7	TRH	SDR9C7	RNF113A	KRAS	ELOVL4	UBE2A	PCNT	GJA1	NLRP1	MYSM1	TRHR	THRA	NOD2	GJB4	FDFT1	PPP2R3C	COG6	BANF1	CYP4F22	SULT2B1	RYR1	MGMT	MAP2K2	LIPN	KIF11	PEPD	TGM1	ALG11	ALDH3A2	OTX2	CDKN2A	SPINK5	POLH	SATB1	MITF	SMARCAD1	CLDN10	ODC1	TINF2	RNASEH2A	MC1R	TREX1	RMRP	PHYH	TERT
HP_CYANOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CYANOSIS	ETHE1	ENG	AGXT	CHRND	GABRG2	MYO9A	HSD17B10	AGRN	SFTPB	CYB5A	PLXND1	SLC25A3	TBX20	ADAR	KCNQ3	KCNQ2	DOK7	ABCC6	MT-CYB	VAMP1	CHRNE	PRRT2	PCDH19	HLA-DRB1	GABRA1	LRP4	HBB	ABCA3	NKX2-5	COL1A1	RBM10	SLC25A1	SCN4A	GRIK2	SCN9A	SLC5A7	NDUFS4	ZMPSTE24	PCK1	PRKAG2	CITED2	SLC25A20	HBA1	PAX3	SLC18A3	SNAP25	COL13A1	LMNA	COL5A2	RNASEH2C	MYH6	ACTC1	ENPP1	IFIH1	SYT2	RNASEH2B	MVK	PUS3	CHAT	GATA6	NKX2-6	ELP1	CYB5R3	SFTPC	SCN1A	SCN1B	MUSK	SCN2A	TCF4	CHRNA1	COL5A1	MMP21	FUZ	TMEM260	GATA4	CHRNB1	SLC34A2	PSAT1	EIF2AK4	SCN8A	TREX1	HBG2	GTPBP3	TLL1	AK9	ACVRL1	FUCA1	SEPTIN9	RAPSN	GJA1	RNASEH2A	RPS6KA3	ZIC3	SLC2A1	SAMHD1
HP_HYPERKERATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERKERATOSIS	WNT10A	CTLA4	DKC1	ITGB4	PERP	TNNC1	BRAF	POLA1	KANSL1	TRPV3	SLURP1	BAG3	COL6A1	TAT	NEXN	ASPRV1	COL6A2	TRAPPC11	KDSR	KRT10	KRT5	NECTIN1	TMPO	TMPRSS6	LAMC2	HLA-DRA	KRT6B	ALOXE3	LAMB3	GJB4	USB1	KRT6A	PNPLA1	DSP	CAST	SERPINA12	CD28	GJA1	PRDM16	KRT16	CTC1	PLEC	GRHL2	COL7A1	TRPM4	AAAS	ALOX12B	POGLUT1	ERCC2	KRT9	TGM1	CARD14	SPTLC2	SDHD	HPGD	KRT14	KRT1	FKTN	SRD5A3	ABCA12	GJB6	GLS	SDHC	PKP1	TNFRSF1B	SULT2B1	GJB2	DDX58	PSENEN	RIT1	DSG1	COL6A3	KRT86	MBTPS2	RTEL1	IL1RN	FLT4	ATP2A2	COG6	NAGA	SERPINB7	JUP	SLCO2A1	RNU4ATAC	AKT1	TRIP4	STS	FKBP14	USF3	IKBKG	DMD	COL12A1	KRT83	LMNA	KRT81	INSR	DDR2	FERMT1	IL17RA	DES	LAMA3	ZMPSTE24	COL14A1	MYBPC3	SLC27A4	COL17A1	TERT	CDH3	PIGL	ERCC5	KRT17	MCOLN1	RAF1	TNNT2	PIK3CA	MYPN	SDR9C7	DIP2B	KLLN	AAGAB	TERC	ANAPC1	NIPAL4	CSRP3	SPTLC1	NLRP1	CTSC	PTEN	SGCD	SOX18	GBA	CDSN	CYP4F22	TP63	LIPN	CFTR	PEPD	SERPINB8	ALDH3A2	VEGFC	ADAM10	HLA-B	ELOVL4	SMARCAD1	GLA	GJB3	ST14	TAF1A	PLN	PLOD1	LRP1	LDB3	SASH1	FIG4	GJC2	CLEC7A	KANK2	POFUT1	CSTA	DSG2	GMPPA	TXNRD2	CRYAB	TNNI3	IL17RC	DSG4	LZTR1	WRN	FHL2	ATP2C1	RHBDF2	AQP5	IL17F	ECM1	PPCS	TPM1	LORICRIN	XPA	TAFAZZIN	SHOC2	NPM1	KRT6C	KLHL24	ACTC1	FGFR2	KDF1	MYH7	HDAC6	SCN5A	ACTN2	POMP	TARS1	PDGFRB	RSPO1	ERCC4	NHP2	TRAF3IP2	NSDHL	PMVK	PARN	XPC	ANKRD1	DSC2	SEC23B	DSC3	DDB2	CAP2	MAP2K1	SNAP29	NECTIN4	EXPH5	ATL3	PSEN2	KRT2	DOLK	RECQL4	RBM20	ATL1	DNAJC21	MPDU1	TTN	KRT13	PSEN1	CERS3	KRAS	ADAMTS2	NEU1	ERMARD	ABCC9	ELMO2	AP1S1	KRT74	MTX2	SDHA	NOP10	VCL	KITLG	HRAS	ERCC3	HAND2	ZNF750	MYH6	MAP2K2	ZC4H2	AP1B1	LEMD3	TINF2	WRAP53	TYR	FUCA1	SDHB	TCAP	ENPP1	GATAD1	LAMA4	MVK
HP_THIN_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIN_SKIN	ORC1	PRKAR1A	TP63	PDE11A	SOX18	PPARG	XPA	NEDD4L	EDA	B3GALT6	COL1A1	PLOD1	CDH23	TWIST2	SMARCAD1	PRKD1	COL1A2	PPP1CB	DDB2	MTX2	DDR2	ERCC3	ARFGEF2	FLNA	CHUK	PDE8B	ADAMTS2	LMNA	TRAF6	ZMPSTE24	TGFBR1	TMTC3	USP8	ALDH18A1	KRT2	CTC1	PDGFRB	ABL1	AIP	POLR3A	PROS1	SLC39A13	B4GALT7	PEPD	UBE3B	PRKACA	LIFR	ERMARD	ERCC5	PIK3R1	GNAS	PYCR1	COL3A1	MAP1B	C1R	FMR1	ERCC4	ERCC2	TGFBR2	PTDSS1	PROC	NFIX	ADAMTSL2	TNXB	KDF1	GORAB	MTAP	ARF1	EDARADD	SATB2	XPC	PORCN	SLC2A10	COL7A1	EDAR
HP_ECZEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECZEMA	CYBA	EFL1	HLA-DRB1	CTLA4	COMT	WAS	NCF1	RTTN	BRAF	SMG8	CSTA	KANSL1	HPGD	NSUN2	ZAP70	SMARCA2	TP63	TKT	FOXP3	CD3G	IL6ST	STAT5B	POLE	TRAF3IP2	TBX1	ZNF341	LBR	HDAC4	HSPA9	RBCK1	DOCK8	ERCC3	LIG4	CYBB	IL4R	MTHFD1	TMC8	IGKC	PGM3	SIK3	MPLKIP	MORC2	PTPRC	SCNN1A	SRD5A3	TGM5	DNAJC21	PCCB	C5	PRMT7	SRP54	PIK3CA	SMARCC2	CD28	IL7	CARD11	RRAS2	IL2RA	SCNN1G	SLC30A2	RNF113A	NCF2	PLA2G7	ARVCF	GTF2E2	IGHG2	STAT1	WIPF1	IL17RA	KDF1	TOM1	FOXN1	UFD1	MCCC2	MBTPS2	PAH	NOD2	CASP8	CARD14	RNU4ATAC	EDAR	JMJD1C	RAC1	NSMCE3	SLCO2A1	TBCK	STAT3	FLI1	MPDU1	CYBC1	KRT74	HLA-DQA1	EDA	NEK9	BTD	MYSM1	HIRA	CASR	SHOC2	TNFRSF1B	PCCA	NUP107	CDSN	TRAF6	RIT1	ZNF750	JAK1	MSN	MS4A2	HLCS	IPO8	CFTR	HLA-DQB1	IL6R	LRRC32	CIB1	SCNN1B	GNA11	FECH	PIGA	SPINK5	GTF2H5	SUOX	TARS1	AUTS2	IL7R	GNB2	IFIH1	TAF1	SBDS	FLG	SEC24C	RREB1	PEPD	DHCR7	ERCC2	GP1BB	KRT1	DDX41	ADA2	TMC6	RBM8A	EDARADD	NCF4	NBEA	GINS1	CARMIL2
HP_CUTIS_MARMORATA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTIS_MARMORATA	SMC3	EOGT	AGXT	TGFBR1	RNASEH2B	DHCR7	LOX	HDAC8	STING1	SMAD3	RAD21	ARHGAP31	AKT3	MAT2A	POLA1	SMAD4	ADAR	ELN	NIPBL	STAG1	DLL4	PIK3CA	SMAD2	LARP7	SMC1A	CBS	GUCY1A1	MYH11	DOCK6	TGFB2	FOXE3	ABL1	NFIX	PRKG1	LIG4	NFIA	MYLK	ADA2	SOX18	BRD4	ACTA2	NOTCH1	RNF113A	NSUN2	TGFB3	ARID1B	HEY2	PTEN	PTDSS1	DDX11	TGFBR2	RBPJ	RNASEH2A	RPS6KA3	TREX1	RNASEH2C	FBN1	ARL6IP6	PDSS1	FTO	IFIH1	MFAP5	MYD88	SAMHD1
HP_HYPOHIDROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOHIDROSIS	EDARADD	ARNT2	HEXB	LIFR	ADAT3	KRT14	TP63	STS	SOX2	EDAR	POLA1	SMARCAD1	WNT10A	SCN9A	MBTPS2	RIPK4	ALOX12B	ALOXE3	GJB2	GMPPA	GLA	CASK	EDA	TRIP4	CERS3	ROGDI	NECTIN1	ELOVL4	KDF1	LMNB1	NIPAL4	HESX1	GHR	TGM1	CLCF1	ABCA12	COL11A1	MADD	SHANK3	CRLF1	FGFR1	COG6	TRAF6	SOX10	ALX4	ERCC8	ZFHX2	PKP1	ARX	SOX3	CTNS	NFKBIA	PRDM12	OTX2	PNPLA1	SLC13A5	TSPEAR	ERCC6	ELP1	KCTD1	PROKR2	CST6	CLDN10	CSTB	COQ2	ERCC4	ST14	STIM1	GJB6	EDA2R	FAM111B
HP_PETECHIAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PETECHIAE	STX11	ETHE1	ITGA2B	NUMA1	WAS	BCOR	PRKAR1A	STAT3	ETV6	SAMD9	RARA	GBA	GP1BB	JAK2	ITGB3	TBL1XR1	FYB1	TET2	STXBP2	OCLN	GP1BA	GFI1B	APOE	LCP2	PML	IRF2BP2	GATA1	FERMT3	CASP10	STAT5B	CALR	UNC13D	TREX1	NPM1	RAB27A	ITGA2	FCGR2C	FIP1L1	CLCN7	NEU1	CD109	NABP1	GP9	USP18	PEPD	WIPF1	MPL	PRF1	ZBTB16	GNA14	GIMAP5	HOXA11
HP_ECTODERMAL_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTODERMAL_DYSPLASIA	EVC	WNT10A	IFT122	EDARADD	EDAR	KRT74	SMARCAD1	TP63	EDA	WDR19	IFT43	KRT85	WDR35	KANSL1	ORAI1	PKP1	GJB6	ATP6V1B2	NECTIN1	NECTIN4	EVC2	MBTPS2	HOXC13	CDH3	NLRP1	NFKBIA	IKBKG
HP_ANHIDROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANHIDROSIS	NTRK1	EDAR	FUCA1	LMNB1	PERP	EDA	KRT14	SCN9A	ALPK1	BCS1L	MBTPS2	TP63	RETREG1	SPTLC2	ERCC8	COL25A1	TRPV3	PKP1	WNK1	ERCC6	KIF1A	CLDN10	COQ2	NGF	RYR1	ZFHX4	EDARADD	ITPR2	NFKBIA	NGLY1
HP_ABNORMAL_SWEAT_GLAND_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SWEAT_GLAND_MORPHOLOGY	LMNA	TBX3	NTRK1	TP63	KDF1	CHUK	EDA	KRT14	NFKBIA	ZMPSTE24	IKBKG
HP_CUTIS_LAXA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTIS_LAXA	RTL1	ELN	EFEMP2	MLXIPL	GGCX	ALDH18A1	GSN	PLOD1	TWIST2	ATP7A	ALG8	FGFR3	KIAA0586	FIG4	MAP2K1	TMEM270	GTF2I	EZH2	NCF1	PITX2	RFC2	LIMK1	MEGF8	ATP6V0A2	XYLT1	EIF4H	FGF20	B3GAT3	VAC14	MAN1B1	ALG12	FKBP6	FBLN5	SLC25A24	SRD5A3	STX1A	SLC2A10	WDR19	LZTR1	ZNF469	BAZ1B	OTUD5	MEG3	NDUFB10	COL3A1	ANTXR1	B4GALT1	CHST14	KRAS	RIN2	GORAB	ADAMTS2	SUZ12	FGFR2	BUD23	WDR37	MRAS	NBAS	LTBP1	DNAJC30	ATP6AP1	BRAF	CHST3	OSMR	BCL11B	CD96	HPGD	GTF2IRD2	GPX4	EED	NAA10	AEBP1	VPS37D	WDR35	TBX15	ATP6V1A	DLK1	MRPS22	ATP6V1E1	BCL7B	HRAS	NPR2	SPINT2	PTDSS1	PEX1	MRPS16	SLC6A8	RIT1	FBN1	ABCC6	DSE	MAP2K2	IPO8	B4GALT7	SLC7A7	NEPRO	EXT1	XYLT2	PYCR1	B3GALT6	NSD1	GNB2	FLNA	ATP6AP2	IFT43	CSPP1	C1R	METTL27	TBL2	CLIP2	TRPS1	NDUFB11	SH3PXD2B	GTF2IRD1	RPS6KA3	FOXC1	LTBP4	CEP55
HP_HYPEREXTENSIBLE_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPEREXTENSIBLE_SKIN	ELN	COL5A1	PLOD1	FGD1	B3GALT6	ALDH18A1	COL1A1	GBA	COL1A2	BRAF	ENPP1	MAP2K1	MAP2K2	INSR	YY1	COL5A2	SMARCD2	ANTXR1	B3GAT3	PTPN11	LZTR1	FBLN5	XYLT2	FGF10	EXOC6B	PUF60	SLC39A13	CHST14	KRAS	RIN2	FKBP14	ADAMTSL2	TNXB	GORAB	ZNF469	ATP7A	SLC2A10	CHST3	TWIST2	ABCC6	B4GALT7	AKT3	AEBP1	SHOC2	FBN1	SKI	KMT2C	PAX2	ADAMTS2	RIT1	DSE	FGFR2	SLC26A2	PDGFRB	TGFB2	IPO8	SLC7A7	IARS1	FGFR3	SON	RAF1	COL3A1	PRDM5	FLNA	COL12A1	C1R	PYCR1	C1S	EHMT1
HP_HYPERHIDROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERHIDROSIS	NF1	TP53	PTPN22	GABRA3	HEXB	MPL	DKC1	LIFR	ITGB4	RET	YY1	SDHD	SCN9A	PRNP	PLAA	KRT9	KCNJ11	BRAF	HLA-B	HMBS	TRPV3	SLURP1	COL6A1	TAT	AIP	PHOX2B	WNK1	WNT10A	USB1	KRT17	MAP2K2	SDHAF2	FLRT1	SLC25A11	COL6A2	MAX	KCNA1	VHL	HINT1	SUCLG1	ABCC8	KLC2	LAMB3	CACNA1S	KRT6B	COL17A1	KRT1	CDH23	UCP2	KRT6A	SERPINB7	IGHMBP2	MBTPS2	FOXP1	DNMT3A	THPO	SDHB	DLST	MEN1	RETREG1	CTC1	HNRNPK	SDHC	SLC18A2	CTSB	GPR101	TERC	CLCNKB	KRT5	KRT16	NTRK1	MLX	CUL4B	IL12B	GNA14	JAK2	NGLY1	SLCO2A1	CLCF1	SCN11A	HPGD	HLA-DRB1	SLC12A3	LAMC2	ATP1A2	NOP10	NLRP3	DST	NPM1	CRLF1	ELP1	HNF1A	MAP2K1	KIF1A	KCNJ18	IKBKG	ATP1A3	DSG1	DDC	FH	CLCN6	COL6A3	CACNA1A	SLC1A3	MDH2	RTEL1	CFTR	BIRC3	KRT14	P4HA2	KIF1B	TINF2	IGF2	WRAP53	SDHA	SPR	ALDOB	TERT	TMEM127	H19	FUCA1	JUP	EPAS1	HNF4A	LAMA3	RSPO1	NHP2	BCL10	PARN	PERP	MALT1
HP_ECZEMATOID_DERMATITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECZEMATOID_DERMATITIS	CYBA	STAT3	NCF2	HPGD	SLCO2A1	NCF1	FOXP3	FLG	ZAP70	CYBB	BTD
HP_SOFT_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SOFT_SKIN	COL5A1	KIF22	COL1A1	IARS1	KCNH1	ELN	MGP	EDA	B3GALT6	MLXIPL	PLOD1	SLC2A10	COL1A2	SMAD3	PIGQ	PRDM5	EFEMP2	COL12A1	C1R	SON	MAN2B1	MICU1	SPARC	ADAMTS2	XYLT1	TGFBR2	PAX2	TGFBR1	TNXB	ATP6V1B2	MTAP	ZNF469	COL5A2	FKBP14	ABL1	KCNN3	ATP7A
HP_BRUISING_SUSCEPTIBILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRUISING_SUSCEPTIBILITY	FASLG	TGFB3	TGFBR1	KRAS	PLOD1	MAT2A	BRAF	STAT3	PRKCD	TBXA2R	LYST	PDE8B	SOS1	MYH9	ITGA2B	GSN	COL5A2	GFI1B	F13B	SLC51A	GATA1	VWF	NBEAL2	STAT5B	SLC2A10	FCGR2C	SLC39A13	CASP10	USP8	RIN2	TGFBR2	MCFD2	MPL	NABP1	FKBP14	NFIX	COL1A2	WAS	TNXB	F2	NTRK1	SMAD3	LMAN1	HPS6	FANCE	FANCA	F8	MFAP5	ABCC6	P2RY12	FANCC	SLC37A4	COL3A1	ANKRD26	PRKAR1A	CDH23	AEBP1	HPS1	CLCN7	GP6	DSE	TGFB2	AIP	PLEC	HPS5	PRKACA	BLOC1S3	TNFSF11	ARMC5	GP1BB	F7	GNAS	FLNA	F5	GP9	MAPK1	MYH11	JAK2	GATA2	ZBTB16	HBA1	ATP7A	FBN1	SCARB2	COL5A1	LOX	B3GALT6	BCOR	ITGB3	ELN	ENPP1	RARA	BLOC1S5	GBA	RASGRP1	TET2	HPS4	PRKG1	COL1A1	TNFRSF1A	PML	SIK3	ACTA2	SERPINF2	FANCD2	HBA2	RUNX1	C1S	ATRX	GP1BA	CHST14	ADAMTS2	SLFN14	WIPF1	ZNF469	F10	STX11	DTNBP1	SNX10	PDE11A	NUMA1	FAS	ATP7B	PLOD3	SMAD4	PTPN11	ETV6	TCIRG1	MAP2K1	SMAD2	GGCX	TBL1XR1	FOXE3	STXBP2	IPO8	F13A1	IRF2BP2	MYLK	UNC13D	NPM1	FIP1L1	PRDM5	C1R	HEY2	MTAP	PLAU	PRF1	HPS3
HP_PURPURA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PURPURA	C4A	ETHE1	PROC	COMT	MPL	WAS	BCOR	GBA	STAT3	CD19	ITGB3	ITGA2B	NFKB2	RARA	TBX1	CFHR1	CTLA4	TERC	TBXA2R	IFNG	ACP5	TNFRSF13B	STIM1	FYB1	SBDS	OCLN	PROS1	GFI1B	F13B	PML	GATA1	FERMT3	COL1A1	CASP10	GP1BA	STAT5B	MS4A1	CALR	RAB27A	CR2	FCGR2C	CLCN7	ICOS	NEU1	USP8	ARVCF	NABP1	USP18	GP1BB	WIPF1	TNFSF12	CD81	F2	UFD1	COL5A2	GNA14	CFHR3	HOXA11	TFR2	JMJD1C	STX11	MVK	NUMA1	P2RY12	TERT	HIRA	NLRP3	PRKAR1A	NFKB1	CDH23	ETV6	PRF1	SAMD9	TNFRSF13C	PRTN3	CHST14	GP6	GGCX	JAK2	HLA-DPA1	GP9	TBL1XR1	TET2	STXBP2	AIP	APOE	LCP2	HLA-DPB1	F13A1	COL5A1	IRF2BP2	ORAI1	UNC13D	TREX1	NPM1	ITGA2	FIP1L1	COL3A1	SH2B3	CD109	PRKCD	SEC24C	RREB1	PEPD	ADA2	CFH	ARL6IP6	ZBTB16	GIMAP5	PTPN22	MYD88	C2
HP_PALLOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALLOR	IKBKG	NF1	IFT43	EPB41	GABRG2	RPL15	MPL	RET	DHFR	SLC2A1	GATA1	KCNJ11	EPB42	RAG2	LRAT	HBA1	SLC46A1	HBB	G6PD	KCNQ2	SDHAF2	MT-CYB	MMADHC	FBP1	SLC25A11	PCDH19	NPRL2	GABRA1	VHL	KIF23	ABCC8	TMPRSS6	SLC4A1	ACAT1	RPL18	RPS17	RPS7	TET2	ASXL1	CDH23	RPS28	FH	SCN9A	UCP2	CALR	AGBL5	FANCD2	DNMT3A	TRNT1	FANCI	RPL35	STEAP3	DLST	RPS19	KLHL7	CDIN1	RPL11	SDHC	RPL5	CUBN	WDR19	PRPF4	RPL26	HMGCL	RPS27	SPTB	SDHB	TNPO3	FANCE	FANCA	ZNF699	PIEZO1	PUS1	SNX10	FANCC	RPS24	JRK	ATP1A2	FDXR	POMGNT1	OPA1	RPS20	TCIRG1	HBA2	CACNA1H	HNF1A	ADA2	SRSF2	SCN1A	SCN1B	PTS	CLCN7	SCN2A	RPL27	RAX2	KIF5A	JAK2	ATP1A3	MAX	SF3B1	CACNA1A	AIP	TMEM126A	HEXA	SLC1A3	RPL35A	RPS10	ALS2	MSTO1	MDH2	RPS26	GABRB3	RPL31	TTC8	TNFSF11	HBG1	KLF1	SMAD4	ACO2	MEN1	SLC19A2	KIF1B	DEPDC5	RPS15A	ANK1	SDHA	ENG	RPS29	SH2B3	PRPF6	NPRL3	SPTA1	COL12A1	NRL	TSR2	TMEM127	EPAS1	BMPR1A	HBG2	HNF4A	SDHD	AMN	GATA2	ALAS2	MYD88	CASK	KIT	HGSNAT	RAG1
HP_SKIN_RASH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_RASH	CYBA	LACC1	RUNX1	EFL1	CTLA4	PIK3R1	FCGR2A	TNFAIP3	MVK	STING1	RIPK1	SMARCAD1	NLRP3	EPB42	RAG2	ENPP1	CD79A	ERCC3	LMBRD1	LBR	AK2	IL17RA	FCGR2B	DNASE1L3	CLEC7A	BTNL2	BLNK	TCF3	SLC4A1	PSMB10	CYBB	NLRC4	TNFRSF1A	IGKC	PSMB9	LYZ	CASP10	POMP	OTULIN	SRSF2	SPP1	MEFV	LPIN2	SRP54	RFX5	JAK3	RFXANK	CD28	ERCC5	IL17RC	NCF2	IGHG2	BLM	IRAK1	IL17F	TEK	PRF1	TREX1	CDK10	RFXAP	NCF1	KDSR	SPTB	STAT4	CLTRN	SYK	GJA1	STX11	CIITA	STAT3	HLA-DRB1	ABCC6	LRRC8A	BTD	CBL	IGHM	HLCS	DCLRE1C	IFNG	NOD2	TNFRSF1B	NLRP12	IL2RG	GJB4	GJB3	PRTN3	DNASE1	PDGFRA	LYST	IKBKG	HLA-DPA1	ERCC2	ERCC4	KIT	STXBP2	PSMB4	LCP2	IL1RN	HLA-DPB1	SDHC	IL6	MIF	SDHA	APOA1	BTK	ZNFX1	ZAP70	SPINK5	UNC13D	NAXD	SDHB	PTPN22	B2M	ANK1	SBDS	LEMD3	SPTA1	DNAJC21	IGLL1	TET2	COX4I2	ADA2	TRAF3IP2	ASXL1	ACP5	CD79B	FGA	SLC6A19	RAG1
HP_PRURITUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRURITUS	TNPO3	RUNX1	MPL	CTLA4	IL7R	LBR	LRP1	RAG2	ABCA12	ABCB4	FH	DCLRE1C	ENPP1	CCDC47	IL2RG	ASPRV1	IL17RA	AQP5	ZNF341	PTPN3	DNASE1L3	CLEC7A	TET2	TRPM4	SEMA4D	SCN9A	TCF4	GSN	MED12	POFUT1	MMEL1	UNC45A	MVD	HLA-DRA	NR1H4	SLC27A4	ATP8B1	RAG1	ASXL1	SCN11A	MC1R	SRSF2	CDSN	IRF5	DSP	CD28	SPIB	THPO	CHD7	ABCB11	ALOXE3	FLG2	CERS3	IL17RC	IL12A	SDR9C7	COL7A1	KRT14	PLCG2	ATP2A2	IL17F	KRT5	PSENEN	ALOX12B	POGLUT1	TGM1	CARD14	JAK2	OSMR	BRCA1	NIPAL4	STAT3	KRT74	ABCC6	UROD	IL12RB1	CBL	HSD3B7	STX3	ATP7B	NLRP3	KIT	TNFRSF1B	GPR35	LIPA	BRCA2	SULT2B1	MST1	CYP4F22	LDHA	NRAS	TRPV3	SLC17A9	TJP2	TNFSF15	PKP1	GPNMB	LIPN	IL31RA	CFTR	PEPD	DSG4	MIA3	FDPS	FECH	UROS	PNPLA1	USP53	GATA1	MYO5B	PKHD1	FLI1	PDGFRA	ADA	DCDC2	SCN10A	LIG4	EPAS1	PERP	EPOR	MVK	TRAF3IP2	PMVK	RMRP	KIF12	POU2AF1
HP_XANTHOMATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_XANTHOMATOSIS	LDLRAP1	ABCG8	KRAS	LIPC	PPARG	EPHX2	LMNA	SLC37A4	FGFR1	PCSK9	SPRED1	TTPA	LMF1	LPL	APOA1	LDLR	APOA5	CYP27A1	G6PC1	ABCA1	ABCG5	APOC2	SMPD1	PPP1R17	GHR	APOE	APOB	APOA2
HP_CUTANEOUS_PHOTOSENSITIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTANEOUS_PHOTOSENSITIVITY	UVSSA	C4A	HFE	CTLA4	FCGR2A	CPOX	DHCR7	SLC6A19	ERCC6	NCF1	NHLRC1	CYBA	NDN	XRCC4	CLPX	TP63	DDB2	ERCC3	PCNA	SNRPN	FERMT1	FCGR2B	ALAS2	RECQL4	LIG4	KRT10	KRT1	ERCC8	ERCC5	MVD	KRT5	MPLKIP	ERCC2	RORB	RNF113A	KRT14	CYBB	NCF2	SYNGAP1	UROS	GTF2E2	BLM	MAGEL2	KDSR	CLTRN	GJA1	XPA	UROD	ERCC1	POLH	PRICKLE1	HERC2	EPM2A	GJB4	FDFT1	GJB3	DNASE1	LYST	PWRN1	ABCB6	NBN	SLC17A9	XPC	ERCC4	DDX6	CSTB	MKRN3	SNORD115-1	PEPD	TREX1	FDPS	GTF2H5	FECH	GATA1	TARS1	NSUN2	PTPN22	IFIH1	SAMHD1	NPAP1	MVK	SNORD116-1	CYBC1	PMVK	PWAR1	NCF4	SCARB2	PPOX	COL7A1	CARMIL2
HP_MOLLUSCOID_PSEUDOTUMORS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOLLUSCOID_PSEUDOTUMORS	COL5A1	COL5A2	COL1A1	COL3A1	ZNF469	PLOD1
HP_MELANOCYTIC_NEVUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MELANOCYTIC_NEVUS	HRAS	RASA2	SEC23B	SDHD	PTCH1	NRAS	TP63	XPA	PIK3CA	TYR	EED	FKBP10	CHRNA7	SUFU	RRAS	MRAS	KRAS	SDHC	TNFRSF11A	DDB2	BRAF	RIT1	PTEN	TNFRSF11B	HPS1	BLOC1S5	RAF1	ERCC3	MC1R	ERF	SPTBN1	FGFR3	FGFR2	SOS1	THPO	PRKAR1A	CDH3	IGF2	SPRED2	PTCH2	PTPN11	ERCC5	OCA2	COL3A1	SOS2	SDHB	ERCC4	ERCC2	RBM28	AKT1	CBL	RRAS2	KLLN	SUZ12	MPL	XPC	USF3	LZTR1	FBN1	PDE4D
HP_FACIAL_CAPILLARY_HEMANGIOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_CAPILLARY_HEMANGIOMA	CD96	DHCR7	ESCO2	POR	RASA1	EPHB4	RECQL4	MGAT2	GLI3	OFD1
HP_HYPERTRICHOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTRICHOSIS	TP53	HFE	MT-ND6	HDAC8	RAD21	ATP6V1B2	KDM4B	ARID2	TRIM8	NDUFA13	BCAS3	TTI2	GPC3	AIP	CDC42	TBCD	CTCF	SCO2	XYLT1	SURF1	KDM1A	RPS23	CDH2	KCNK4	VPS33A	HSPA9	PSMB8	PAX3	NDUFAF5	TRIO	HMGA2	MT-TW	NDUFA10	GPC4	COX5A	MAB21L1	INSR	TRMT1	GJB4	NDUFS2	MT-TH	UGP2	CHRNA7	FGFR1	FOXRED1	EBF3	SMARCA4	PACS1	UROS	MT-CO1	ARX	CERT1	ABCC9	NECTIN1	PPARG	CDH11	MT-ND1	NOTCH2	DOCK7	CTSC	RNF125	NDUFV1	TAF6	DPAGT1	DDB1	ZNF699	SNAI2	TACO1	RAB3GAP1	SMC3	ERLIN2	MED13	CAVIN1	SLC25A24	PACS2	CHMP1A	EHMT1	FGF3	WAC	TBCK	SMC1A	KATNB1	SOX4	SNX14	NAGLU	SMARCB1	SRD5A3	SLC1A4	PPP1R15B	SMARCC2	FHL1	FREM1	HNRNPU	SOX10	PHF8	AGPAT2	BMP2	SETBP1	MT-TF	NDUFS4	NANS	ARID1A	CLCN3	PET100	TRAPPC9	SMS	SPTBN1	KNSTRN	CHSY1	SGSH	RAI1	KCNN3	UBR7	NIPBL	MT-CO3	TASP1	SETD5	SOX11	UQCC2	ZNF407	TMEM94	HGSNAT	MT-CO2	SMARCE1	NDUFB8	KLF13	VPS37A	ARID1B	GNB2	PIGN	MT-TL1	MAPK1	CWF19L1	PSMC3	SUZ12	NDUFAF3	TMCO1	IL1RAPL1	MAP1B	EDN3	NDUFS8	ABCA5	AFF3	SPEN	ADAT3	ASXL1	GNS	NDUFAF6	NDUFV2	LEMD3	NDUFA4	NSUN2	NFIX	STAG1	NDUFS3	CCDC47	USP9X	MAN2B1	KCNH1	BPTF	SDHA	MITF	DHX30	NMNAT1	KMT2A	NDUFA9	DPF2	MT-TS2	KIT	CDON	CAV1	PRR12	UGDH	TALDO1	NDUFAF2	BICRA	KIFBP	ZBTB20	BRD4	SMPD4	RAB18	RUSC2	SMARCD1	LIPT1	SPATA5	TAF1	MTFMT	PUF60	NEU1	ANKRD11	ARL3	NDUFA12	EDNRB	MT-ND5	NUS1	GLB1	UBE2A	CDK10	CUL4B	PRKG2	GNA14	TRAIP	GPR101	PHIP	TLK2	CDKL5	FLII	GNE	FOS	UROD	EMC10	SPOP	BLM	TUBGCP2	DEAF1	PIK3CD	IGF1R	ZIC2	TRMT10A	CKAP2L	SMARCA2	MED27	ZNF292	ASXL3	ALG9	NDUFS7	TFE3	PDHA1	WNT4	PIGU	SLC29A3	POLR3A	CSNK2A1	BSCL2	PSMD12	GATA1	ZNF711	KRT10	NDUFA2	NDUFS1	ECHS1	B3GLCT	KNL1	WBP11	COG7	IDS	IQSEC2	MT-ND4	KIAA0753	AFF4	SMCHD1	LTBP3	SLC19A3	KCNMA1	COX15	OGT	MT-TQ	AMMECR1	TWIST2	PPOX	MBD5
HP_PYODERMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PYODERMA	LAMB3	IL10RA	BTK	LAMC2	LAMA3
HP_ABNORMALITY_OF_SKIN_PIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SKIN_PIGMENTATION	RERE	SLCO1B3	MYO5A	NTNG2	PIK3CA	RTEL1	EED	KIT	CDKN2B	NDN	POLA1	ABCD1	SMG8	RRAS	TXNRD2	HRAS	CDK4	RIT1	FANCC	SNRPN	PDE8B	TRAPPC11	NF1	TSC2	MED27	TWIST2	ZMPSTE24	ERCC3	FANCF	ERCC4	FANCD2	LIFR	KRAS	CLCN7	HSD3B2	BRIP1	GJA1	ERCC5	IL12A	CTC1	PTEN	MT-CO1	TSC1	ESCO2	MT-ND1	NHP2	EMC10	FANCG	LMNA	POGLUT1	TERT	ERCC2	KDSR	SNAI2	KRT5	PTPN23	TRIP12	SDHD	VHL	EDA	IL12RB1	NRAS	FKBP10	SRD5A3	SMARCAL1	CASR	CDH23	GJB6	SDHC	MAD2L2	FANCA	ALG3	MT-TF	GALC	COPB1	SPTBN1	KNSTRN	KDM6A	CAV1	FBXW11	WDFY3	LYST	TCF20	EDARADD	PRKACA	TTC37	UROS	MAGEL2	TARS1	SMS	BCORL1	RLIM	MT-TL1	TERF2IP	ACD	NPAP1	AKT1	SEMA4A	CREBBP	CEP57	NCF4	MYT1L	HBB	USF3	POU2AF1	OCA2	ZPR1	AIRE	INSR	ATP7A	NR0B1	LEMD3	HPGD	GNAS	FAS	TBX1	FERMT1	PMS2	APC	LAMA3	HPS4	KMT2E	RBBP8	TUBGCP6	TNFRSF1A	POT1	UBE3A	HPDL	IRF5	KRT14	DCPS	SLCO1B1	CAT	ERCC6	MITF	PLCG2	KLLN	TERC	ANAPC1	FANCE	TCF7L2	TFR2	PHIP	PUS7	CYP11A1	WRAP53	SYNCRIP	CCR6	DCLRE1C	DST	AGO2	EMC1	TCF4	CBS	ERCC8	TP63	DSTYK	TFE3	THPO	SNORD115-1	UROD	SLC29A3	CXCR4	SLC40A1	TUBB	ANTXR2	TRIP13	EP300	CDKN2A	FGFR2	KIF1B	XRCC2	PLXND1	NDUFB11	PAX3	KAT8	SETD1A	ATP6V1B2	RECQL4	BRAF	BRCA1	ACP5	PORCN	SVBP	PTPN11	KDM6B	SOX10	MT-ND6	MTOR	KDM4B	AIP	RAF1	MAX	PSAP	SPRED1	ANTXR1	PRKAR1A	MT-TW	TMC8	MAN1B1	MC1R	TGM5	DDX3X	FANCI	IDUA	STEAP3	LZTR1	NCF2	NOTCH3	TNRC6B	UFD1	CTSC	EDNRB	PSENEN	PARN	CDKN1C	ATP2A2	XPA	PDGFRB	MLPH	HIRA	CRIPT	PALB2	FGFR1	NPM1	CBL	HPS1	GJB3	PDGFRA	SDHB	MSH2	OCRL	SASH1	SOS1	ACTL6A	MC2R	GPNMB	FGFR3	APOE	MT-CO3	GNA11	SMO	BLOC1S3	SLC24A5	NSUN2	UBR1	SOS2	SEC24C	PROC	MAPK1	SUZ12	MPL	XPC	PAH	HS2ST1	ANKRD17	FBN1	PDE4D	UVSSA	APC2	SRCAP	NCF1	SATB1	DDB2	GPR143	MAP2K1	BLOC1S5	CYP11B1	MT-TS2	PROS1	KITLG	SLX4	SMARCAD1	MAP2K2	DNAJC21	CDKN1B	ATM	ADH5	HGD	MAP3K7	RRAS2	RBM28	MT-ND5	MRAP	UBE2A	MSH6	SIN3A	GPR101	CTLA4	PDE11A	SEC23A	DKC1	TYR	NOP10	HERC2	UBE2T	NBN	NOD2	KIAA0319L	ABCB6	SLC35A2	MGMT	COL17A1	WASF1	TNFSF15	TINF2	EDAR	AAAS	RFWD3	EPG5	RREB1	CDKN2C	SH3PXD2B	AP3D1	GBA	RAB27A	IGF1	CWC27	TNPO3	SETBP1	DCT	COMT	ZMIZ1	TRMT1	SKIV2L	RAD51	KANSL1	DOCK3	ERF	MLH1	CDKN1A	LAMTOR2	LAMC2	HCCS	MPLKIP	LAMB3	MMP2	IGF2	MT-TH	BAP1	NF2	CD28	POMC	USP8	PLEC	GTF2E2	ACTL6B	RPS27	SALL4	FANCL	DPYSL5	CARD14	PLAG1	KDM5C	MAPK8IP3	MRAS	BUB1B	KCNMA1	PAX6	MTX2	TNFRSF1B	WDR73	CACNA1F	TRAF6	KCNN3	MKRN3	BPTF	SLC45A2	ATP10A	HPS5	SLC17A5	EBP	MED12	PTCH2	MT-CO2	PCSK1	POGZ	NLRP1	IFNG	TMEM127	PIGN	EDN3	FANCB	CCDC32	ARL6IP6	LRBA	COL3A1	IKBKG	MEN1	BLOC1S6	TNFRSF11B	USB1	SLC12A2	DNASE1L3	CPOX	RET	UBR7	LIG4	SLC27A4	HJV	CDH3	SPRED2	GRIA4	MAPRE2	HMGA2	SPIB	JAK3	HFE	FLNA	DUOX2	VPS13B	BLM	AP3B1	KDF1	PANK2	REV3L	RAD51C	IL6	PCNT	CLTRN	DTNBP1	BMP2	KCNH1	ITGB4	PPP1CB	SOX18	PIK3CD	HAMP	BUB1	RNF2	ZFHX4	B4GALT7	COL7A1	NTNG1	SDHA	ALDH3A2	COX7B	BTK	CNOT3	HLA-DRB1	COL25A1	BRCA2	WBP11	FOXD3	MT-ND4	GP1BB	SNORD116-1	MCM4	SLC6A19	PPOX	STK11	TYRP1	IRF4	CSTA	LBR	PSMD12	MED13	BTNL2	STAR	CLCN3	POFUT1	MMEL1	PSMB8	KMT2D	TOP3A	CYBB	IL7	ARVCF	KAT6A	NSD1	HPS6	ZNF699	TANC2	ERCC1	PTCH1	DDX6	CHRNA7	BCAS3	SETD2	SHOC2	MADD	PALS1	NNT	KLHL24	ST3GAL5	CTNNB1	PTPN22	KIF15	GTF2H5	GNB2	MFRP	BUB3	C1S	TMC6	PWAR1	CCN2	MAFB	CHN1	ALAS2	RASA2	FANCM	SEC23B	CYBA	HTT	RDH11	ACTB	SIM1	RNF113A	USP9X	LMBRD2	JMJD1C	GMPPA	SUFU	TNFRSF11A	GJB4	LRMDA	BANF1	PWRN1	CTNS	CIB1	PIGA	SPINK5	POLH	GATA1	HUWE1	TRAPPC4	CYBC1	GNAQ	ADAR	MT-TQ	C1R	JARID2	HPS3
HP_ABNORMALITY_OF_SUBCUTANEOUS_FAT_TISSUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SUBCUTANEOUS_FAT_TISSUE	PHGDH	SLC25A24	KCNK9	PRKAR1A	BMPR1A	TGFB3	PDE11A	MEN1	TBL1XR1	COL1A1	CAV1	PTEN	CDH23	ERCC8	FGFR1	AKT1	PPP1R15B	ALG8	BSCL2	COL1A2	ATP6V1A	AGPAT2	TRMT10A	PPARG	ATP6V1E1	INSR	SKI	SOX18	IGF1R	PDE8B	ADAMTS2	LMNA	PRKACA	TGFB1	ALMS1	PTF1A	POLR3A	ZMPSTE24	PMM2	SLC2A2	NAA10	FH	TOP3A	ARMC5	GNB2	ATP6V0A2	PIK3CA	LEMD2	USP8	GNAS	ERCC6	CDKN1B	ADAMTSL2	RBM28	PLIN1	FBN1
HP_MULTIPLE_LENTIGINES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_LENTIGINES	MAP2K1	MAP2K2	KRAS	KITLG	RAF1	STK11	PTPN11	MAPK1	SMARCAL1	PRKAR1A	BRAF	DSTYK	SHOC2	NRAS
HP_LYMPHEDEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LYMPHEDEMA	BCL6	RASA2	FLT4	SOX18	CELSR1	ANGPT2	SLC35D1	TSPAN12	NDP	EPHB4	FAT4	FOXC2	RRAS	BRAF	BCL2	DNMT1	GUSB	MRAS	PTPN11	KIF11	CDC42	CBL	SHANK3	RIT1	MAP2K1	CCBE1	RAF1	GJC2	TIE1	KRAS	SPG11	PIEZO1	SOS1	NLRP3	INPPL1	MAP2K2	PTEN	GATA2	LRP5	NAGA	ADAMTS3	IKBKG	TSC2	ANTXR2	VEGFC	SPRED2	DCHS1	GLA	KIF7	TSC1	CDK5	LEMD3	PIK3CA	CTNNB1	NRAS	SOS2	LBR	ABCC9	HLA-DRB1	MAPK1	RRAS2	RELN	RASA1	PTPN14	FZD4	PMM2	AKT1	ZNF408	LZTR1
HP_DERMATOLOGICAL_MANIFESTATIONS_OF_SYSTEMIC_DISORDERS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DERMATOLOGICAL_MANIFESTATIONS_OF_SYSTEMIC_DISORDERS	TNPO3	UGT1A1	PKLR	EPB41	SLCO1B3	CYP7B1	MYO9A	MPV17	AGRN	SFTPB	PLXND1	TBX20	KCNQ2	HBB	G6PD	PEX3	CHRNE	PTPN3	PDE8B	SH2B3	GABRA1	TSHR	TCF4	MED12	UNC45A	DZIP1L	SLCO1B1	NKX2-5	TTC26	RHAG	ATP8B1	RBM10	SLC25A1	GRIK2	SCN9A	TPI1	ATRX	ZMPSTE24	IL12A	USP8	LPL	GALT	DEF6	PRF1	ACADVL	LMNA	SPTA1	COL5A2	RNASEH2C	TG	ATP7A	IFIH1	GCLC	HSD3B7	MVK	IL12RB1	ABCD3	PUS3	CDH23	CALR	CYB5R3	STX11	SLC25A3	SCN1A	PEX14	PEX6	SCN2A	PRSS1	SPTBN1	LYST	IYD	SERPINA1	MMACHC	PRKACA	PEX12	GATA4	CHRNB1	ARMC5	HNF1B	SLC2A1	CTRC	JAG1	HYOU1	FLI1	CHRNA1	GTPBP3	CPOX	ABCB4	POU1F1	HK1	RAPSN	GJA1	RNU4ATAC	SPINK1	NPC2	HMGCL	RPS6KA3	AKR1D1	CPA1	PEX16	POU2AF1	SP110	PKHD1	SLC44A1	ETHE1	ENG	AGXT	VPS33B	DHFR	ADAR	SEC23B	NR1H4	PRKAR1A	KCNN4	RABL3	GALE	HLA-DRB1	CLDN1	GYPC	KCNQ3	SLC4A1	ABCA3	SPTB	COL1A1	PEX26	KRT18	GLRX5	SLC5A7	SLC30A10	IRF5	SPIB	PEX5	PROS1	DUOX2	HBA1	PAX3	ETFB	CDIN1	ANK1	COL13A1	ABCB11	TBX19	ALG6	ACTC1	ATP6AP1	BRCA1	TFAM	SPOP	RHD	ELP1	LIPA	SFTPC	BRCA2	ARL13B	PEX1	MMP21	TMEM260	IL2RG	USP53	PSAT1	UNC13D	SCN8A	SLC51B	GALM	NBAS	ATP6AP2	AMACR	YARS1	DAXX	SEPTIN9	SLC26A4	ETFA	F5	POLG2	RNASEH2A	IL18BP	ADAMTS13	CASK	PARS2	RINT1	LBR	SLC25A13	HSD17B10	JAK2	ABCC2	ETFDH	TSHB	PFKM	DOK7	ABCC6	MT-CYB	PRPS1	CTCF	PCDH19	GSN	MMEL1	PIEZO1	PROP1	IER3IP1	SCN4A	SLC16A2	ALDOA	RAB27A	ALDOB	PCK1	SLC25A20	EIF2AK3	CYP27A1	PROC	SNAP25	SMPD1	KRT8	DPAGT1	NSD1	CHRND	PALB2	SYT2	RNASEH2B	LHX4	LHX3	SLC10A1	SETD2	CHAT	SMAD4	VIPAS39	FCGR3B	MUSK	VHL	PRSS2	PEX19	PAX8	TP53	PALLD	SLC34A2	EIF2AK4	DUOXA2	SLC37A4	TRMU	ATP11C	TLL1	DCDC2	GNAS	CDAN1	CASR	PEPD	ZIC3	PIGA	SAMHD1	APC2	GABRG2	CYB5A	KMT2E	EPB42	PEX11B	VAMP1	PRRT2	BPGM	SEMA4D	PEX10	PEX13	LRP4	OCLN	NDUFS4	CDKN2A	DGUOK	PRKAG2	CITED2	SLC18A3	BAAT	GALK1	MYH6	ENPP1	PDE11A	GPI	ATP7B	TRHR	HESX1	GATA6	GPR35	RHCE	NKX2-6	CFTR	NPC1	PEX2	SCN1B	MST1	TPO	TNFSF15	STXBP2	COL5A1	FUZ	TTC37	TREX1	HBG2	CCDC115	AK9	SLC5A5	ACVRL1	FUCA1	COG7	KRAS	COX4I2	KIF12
HP_HIRSUTISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIRSUTISM	FSHR	WDR81	MOGS	HDAC8	ARID2	CCDC28B	SRCAP	MGAT2	BMP15	ABCC9	INSR	AIP	IFT172	HSPG2	XYLT1	PDE8B	GLB1	CNOT2	SDCCAG8	BBS9	MAB21L1	CACNA1G	KMT2D	MMP2	IFT27	PRKCZ	MC1R	IRF6	CDK5	TWIST1	HSD3B2	BBS5	IDUA	UBE4B	FGFR2	SMARCA4	TBCD	RPL10	IFT74	USP8	RIN2	ARX	NFIX	CEP290	CEP19	NOTCH2	FRMD4A	VPS33A	CTSC	CCBE1	TAF6	BBS1	KDSR	SMC3	BBS7	BCL11B	LRPPRC	TWIST2	WAC	TBCK	SMC1A	SOX4	NAGLU	FUT8	SMARCB1	GLI3	KCNAB2	CDH23	SMARCC2	AIMP2	BSCL2	ARL6	AGPAT2	SUCLA2	PPARG	NANS	GJB3	TBC1D20	COPB1	MKS1	ARID1A	NRAS	ERCC6	LMNB2	KDM6A	SGSH	ALMS1	MMP23B	GUSB	NIPBL	TASP1	PRKACA	SMO	SOX11	PDPN	MAP3K7	POR	ARMC5	HGSNAT	SMARCE1	PRDM16	ARID1B	GNB2	LMNA	PRKAR1A	RAB18	GNAS	PEPD	MAPK1	CREBBP	NKX6-2	AKT1	MAP1B	SLC25A24	FLNA	RTL1	ABCA5	SPEN	ADNP	CPOX	GNS	RAD21	PLAA	TRIM32	RERE	MAP3K1	BBS12	ASXL1	RAB3GAP1	CAVIN1	KCNH1	BBS4	RAB3GAP2	KMT2A	DPF2	SOX6	SMARCD2	LZTFL1	SETD2	BRD4	OFD1	MAPRE2	SMARCD1	OTUD5	MEG3	MKKS	NR3C1	CASZ1	ADAMTS2	SCAPER	BBS10	UBE2A	ELMO2	PRKG2	GPR101	SHROOM4	GJA1	PDE11A	GNE	CNP	EMC10	KCNJ8	BBIP1	GJB4	H6PD	LUZP1	BBS2	TBX15	CKAP2L	CYP11B1	WDPCP	ASXL3	CFAP418	PTEN	TTC8	WNT4	IPO8	POLR3A	TUBB	ARSB	EP300	PAPSS2	DLK1	GABRD	SKI	MMP14	TAF1	CYP19A1	PPP1R21	NPHP1	GATA1	AFF4	CAV1	CAPN15	MBD5
HP_TELANGIECTASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TELANGIECTASIA	WNT10A	UVSSA	ARX	SEC23B	ENG	IRF5	DKC1	LBR	HSPG2	CTSA	STING1	SPEN	ERCC6	RERE	XRCC4	MT-CYB	FRG1	NDUFS2	SMAD4	DDB2	PIK3CA	PCNA	ENPP1	USB1	CCM2	ACTA2	SLC37A4	CCR6	RECQL4	LIG4	SEMA4D	TREX1	GNAQ	TCF4	PIGW	LRP5	TALDO1	NAGA	TMC8	PGAP3	CYLD	PRKCZ	KIT	MT-ATP6	ATRX	GDF2	SLC2A10	ERCC5	MT-ND2	ATR	HFE	PGAP2	IL7	STN1	UBE4B	ATM	COL3A1	CTC1	LMX1B	NEU1	PTEN	WRN	SLC29A3	CCN2	PIGL	CASZ1	BLM	MT-ND4L	RNF168	KLLN	RASA1	TERC	ANAPC1	POLE	RNF213	MT-ND4	ERCC2	ELMO2	SDHD	BMP2	SOX18	XPA	ABCC6	MT-ND6	TSPAN12	NDP	EPHB4	BMPR2	NOP10	POLH	MT-CO3	KCNAB2	PIGO	NPM1	SDHC	GPR35	MT-CO1	FERMT1	PIGV	LUZP1	KIAA0319L	ERCC3	MST1	IKBKG	LMNA	CAV1	XPC	DNAJC30	ACVRL1	MMP23B	RTEL1	NF1	MT-ND5	CIB1	ANTXR2	MRE11	POLD1	PDPN	DPM1	STXBP1	SETX	PRDM16	TINF2	GABRD	SKI	DIAPH1	WRAP53	HLA-DRB1	MT-ND1	PIGY	CTNNB1	TERT	VPS53	DAXX	SDHB	PORCN	ERCC4	GLA	PEPD	AKT1	FZD4	PEX6	NHP2	TMC6	PARN	MASP1	ARL6IP6	ZNF408	COL7A1	USF3	GNPTAB
HP_HYPOPIGMENTATION_OF_THE_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPIGMENTATION_OF_THE_SKIN	SNAI2	UBE3A	SOX10	DCT	MYO5A	IRF5	CTLA4	DKC1	COMT	KRT14	SLC45A2	TYR	TYRP1	SKIV2L	NDN	RAD51	MTOR	KANSL1	SNRPN	HRAS	FANCC	MITF	LYST	ERF	BTNL2	KRT5	PSAP	TSC2	MLH1	TWIST2	POFUT1	LAMTOR2	PAX3	ANTXR1	FANCF	HCCS	TMC8	ERCC4	TBX1	FANCD2	MC1R	KRAS	CLCN7	RAB27A	NRAS	CD28	IL7	POMC	CTC1	UROS	ARVCF	TSC1	SALL4	UFD1	FANCL	CTSC	EDNRB	PSENEN	POGLUT1	NSD1	PAH	HPS6	ZNF699	AP3D1	SDHD	FGFR3	XPA	MLPH	HIRA	CRIPT	PALB2	SETD2	NPM1	SDHC	MAD2L2	FANCA	ALG3	WDR73	TP63	HPS1	GALC	KLHL24	CACNA1F	FANCG	OCRL	CTNNB1	SPTBN1	CAV1	XPC	SASH1	PTPN22	MKRN3	APOE	RTEL1	ATP10A	HPS5	SLC17A5	EBP	TTC37	SMO	BLOC1S3	MAGEL2	OCA2	PCSK1	SLC24A5	SMS	IFNG	PIGN	SEC24C	NPAP1	AKT1	EDN3	NHP2	TMC6	FANCB	PWAR1	CCN2	PARN	MAFB	FANCI	CHN1	USF3	ZPR1	EPG5	FANCM	APC2	SEC23B	BLOC1S6	ATP7A	FAS	DDB2	USB1	BLOC1S5	BRIP1	ACP5	HPS4	KIT	KITLG	SLX4	RECQL4	SIM1	ERCC5	AIRE	DCPS	BLM	AP3B1	KLLN	TERC	ANAPC1	UBE2A	RAD51C	FANCE	PCNT	CLTRN	JMJD1C	DTNBP1	UROD	NOP10	CCR6	HERC2	UBE2T	TNFRSF1B	FERMT1	PTEN	LRMDA	KIAA0319L	ERCC3	TCF4	IKBKG	LMNA	CBS	PWRN1	ABCB6	SLC35A2	ZFHX4	TFE3	SNORD115-1	CTNS	CIB1	COX7B	BTK	PIK3CA	FGFR2	POLH	GATA1	LEMD3	RFWD3	TINF2	WRAP53	HLA-DRB1	COL25A1	TERT	BRCA2	XRCC2	SDHB	ERCC2	NDUFB11	RREB1	GP1BB	SNORD116-1	BRCA1	ADAR	HPS3	SLC6A19	PPOX
HP_MULTIPLE_LIPOMAS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_LIPOMAS	BMPR1A	MT-TP	KRAS	MT-TK	MT-RNR1	MEN1	GNA11	ABCC6	ALX1	FGFR1	FLCN	CDKN2B	PTEN	MT-TH	AKT1	FUZ	ENPP1	MT-TS2	AP2S1	VANGL2	CCL2	APC	SPRED1	CDKN1A	ZSWIM6	MSTO1	MT-TF	TBXT	MT-ND5	PIK3CA	CDKN1B	MFN2	LEMD3	ALX3	VANGL1	MT-TQ	CDKN2C	MT-TL1
HP_ANGIOKERATOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANGIOKERATOMA	GLB1	FUCA1	GLA	AGA	NAGA	MANBA
HP_ANEMIC_PALLOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANEMIC_PALLOR	FANCD2	ENG	BMPR1A	FANCE	FANCA	SMAD4	FANCC
HP_ABNORMAL_PALMAR_DERMATOGLYPHICS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PALMAR_DERMATOGLYPHICS	FGF9	APC	RPL10	HDAC8	RAD21	KDM4B	TRIM8	RIPK4	BRAF	ESCO2	CKAP2L	AIP	MCTP2	FIG4	SMOC1	PEX12	CTCF	CTBP1	ROR2	RAB11B	YY1	DOCK6	RPS23	HDAC4	FGFR2	VPS33A	TFAP2A	NUP188	VAC14	KAT6B	PUF60	TCF12	FGD1	XYLT1	RBM10	LIFR	VPS51	RAPSN	TWIST1	DLX4	PTPRF	NALCN	SLC39A13	LMX1B	CHD7	PEX14	NECTIN1	NEXMIF	PEX5	DPAGT1	CCBE1	ADAMTSL1	SMC3	TBX4	SEMA3E	GLE1	SLC25A24	BHLHA9	EHMT1	PNPLA6	WAC	KATNB1	PACS1	DIS3L2	TBL1XR1	B4GALT7	SHOC2	TSEN34	GDF5	TSEN15	NUP107	PEX6	SMS	SEPSECS	PEX19	PIGS	SPTBN1	HRAS	DSE	PEX1	TCF4	KCNN3	UBR7	BMPR1B	IFT43	NIPBL	TASP1	EXT1	MED25	STXBP1	AUTS2	TELO2	MYH3	GNB2	NAA10	TSEN54	PEX2	UBR1	ARID1B	MTOR	NXN	GATA1	LONP1	RNU4ATAC	ITCH	NSD2	CREBBP	BRF1	BCOR	IFT57	RPS6KA3	TRIM37	PEX11B	MAP1B	SMC1A	PKDCC	RTL1	KCNK9	AFF3	ADNP	TPM2	NOG	CPLX1	FGFRL1	PLAA	COX14	TNNI2	EXTL3	G6PC3	DPYD	ASXL1	STAG1	VPS13B	MAP2K1	PPP2CA	ANKRD11	PEX13	TSEN2	SPECC1L	ATP6V0A2	SMARCA2	HNRNPK	OFD1	UBE3B	CHST3	PRR12	SMARCAD1	DOK7	BRD4	SMPD4	BMP4	CDK19	ATR	ASXL2	FGFR3	OTUD5	CSGALNACT1	MEG3	FOXP1	PEX16	CHST14	KRAS	TGDS	ARL3	WDR37	SLC18A3	NBAS	CDK10	MSL3	SIN3A	GPR101	NGLY1	IFT122	CD96	KCNH1	MTX2	PLOD3	DPH1	PEX26	LETM1	DLK1	MED12	NUP88	ZNF292	ASXL3	PDHA1	MAP2K2	PEX10	ZNF462	PEPD	FLNA	ZMYM2	PIEZO2	EP300	SETBP1	MAP3K7	MUSK	THOC2	B3GLCT	DDX11	CEP57	TRPS1	ATP6V1B2	RIN2	CEP55	PORCN	IGF1	TNNT3	MYOD1	PEX3
HP_ERYTHRODERMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERYTHRODERMA	STX11	CTLA4	RAG1	NIPAL4	IL7R	ABCA12	TGM1	CD3E	KRT1	RAG2	EXTL3	KIT	AP1B1	ALOXE3	DCLRE1C	FOXP3	TNFRSF1B	IL2RG	DSG1	GJB2	ALOX12B	EBP	CYP4F22	GTF2H5	MBTPS2	KRT10	SULT2B1	STXBP2	LIPN	ERCC3	SLC27A4	MPLKIP	PNPLA1	SPINK5	MPDU1	UNC13D	TARS1	CD28	CHD7	CD3D	IL2RA	CERS3	ADA	SDR9C7	RNF113A	LIG4	GTF2E2	CD247	GJB3	ERCC2	TOM1	ADAM17	LSS	RMRP	PRF1	CARD14
HP_ALBINISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALBINISM	HPS5	AP3D1	LRMDA	HPS1	BLOC1S5	TYR	BLOC1S3	AP3B1	DTNBP1	MITF	CACNA1F	SLC45A2	MC1R	TYRP1	EDNRB	OCA2	HPS4	EPG5	HPS6
HP_URTICARIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URTICARIA	TNPO3	FASLG	RUNX1	HLA-DRB1	SUPT16H	MVK	ADGRE2	FAS	IL12RB1	CBL	ALPK1	NLRP3	KIT	NLRP12	PRKCD	ERCC3	SRSF2	RASGRP1	ERCC2	ERCC4	TNFSF15	RAC2	MMEL1	NLRC4	HLA-DQB1	TET2	SLC27A4	ALDH3A2	ANTXR2	ASXL1	SPINK5	CASP10	SF3B4	IRF5	SPIB	GNB2	ERCC5	IL12A	SDHB	ELOVL4	CBS	PLCG2	WAS	WIPF1	MBTPS2	SDHC	FOXP3	CARMIL2	POU2AF1	PIGT	SERPING1	MYD88
HP_PENETRATING_FOOT_ULCERS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PENETRATING_FOOT_ULCERS	SPTLC1	ATL3	SPTLC2	SBF2	ATL1	F12
HP_SOFT_DOUGHY_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SOFT_DOUGHY_SKIN	SON	COL1A1	MICU1	B3GALT6	ADAMTS2	IARS1	COL1A2	COL5A1	XYLT1	MGP	SLC2A10	COL5A2
HP_POIKILODERMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POIKILODERMA	RECQL4	CTLA4	XPA	USB1	POLH	MTX2	ERCC5	CD28	DDB2	TNFRSF1B	ERCC2	FERMT1	ERCC3	ERCC4	BLM	ANAPC1	XPC	ERCC6	FAM111B	COL7A1	RNU7-1
HP_FRAGILE_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRAGILE_SKIN	KRT5	COL7A1	COL5A1	HFE	PLOD1	CPOX	UROD	COL1A2	PKP1	LAMC2	FERMT1	B3GALT6	JUP	CHST14	EXPH5	LAMA3	DSP	PRKACA	LAMB3	PLEC	ITGA6	COL5A2	PDGFRB	ITGB4	KRT14	COL1A1	COL17A1	UROS	GATA1	MMP1	COL3A1	C1S	ADAMTS2	ITGA3
HP_SUBCUTANEOUS_LIPOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBCUTANEOUS_LIPOMA	PTEN	BMPR1A	FGFR1	AKT1	CDKN1B	MEN1	PIK3CA
HP_ABSENT_DISTAL_INTERPHALANGEAL_CREASES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_DISTAL_INTERPHALANGEAL_CREASES	LMX1B	IHH	RBBP8	HOXD13	NOG	TPM2
HP_PARAKERATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARAKERATOSIS	LORICRIN	KRT74	TGM1	CARD14	DSP	PIK3CA	MVD	KRT13	FLG2	MVK	PMVK	RHBDF2	CYP4F22	CDSN	PERP	TRPM4	LDHA	NIPAL4	CLDN1	TRPV3	NSDHL	POMP	IL36RN	NLRP1	MBTPS2	KRT5	SPINK5
HP_FACIAL_ERYTHEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_ERYTHEMA	USP8	GNB2	KCNQ2	RECQL4	MBTPS2	RHOH	GJA1	ADGRE2	AIP	ANAPC1
HP_VITILIGO	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VITILIGO	CXCR4	SLX4	AIRE	MT-ND6	MT-CO2	MT-TH	POGZ	DCLRE1C	NLRP1	KANSL1	NBN	FAS	MT-TL1	FOXD3	CAT	MT-CO1	MT-TF	KITLG	PLCG2	EMC1	MT-ND1	MT-ND4	ACP5	MT-ND5	MT-TS2	DSTYK	PTPN22	MT-TQ	LRBA	MT-TW	MT-CO3
HP_INTERMITTENT_JAUNDICE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERMITTENT_JAUNDICE	RHAG	SPTB	SLCO1B3	KCNN4	PIEZO1	SLC4A1	ATP8B1	SLCO1B1	ABCB11
HP_ATOPIC_DERMATITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATOPIC_DERMATITIS	IGKC	PGM3	MORC2	SCNN1B	KRT74	SCNN1A	NEK9	DOCK8	GNB2	BRAF	IFIH1	CARD11	RRAS2	SCNN1G	IGHG2	CDSN	ZNF341	KRT1	FOXN1	JAK1	HSPA9	IPO8	CFTR	IL6R	LRRC32
HP_CAVERNOUS_HEMANGIOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAVERNOUS_HEMANGIOMA	HRAS	SEC23B	SDHD	PIK3CA	BIN1	DNM2	NRAS	GDF2	KRIT1	BRAF	MYF6	KRAS	SDHC	PDCD10	PTEN	SDHB	MAP2K1	ENG	CCM2	AKT1	MTMR14	NOTCH1	HOXD13	KLLN	TEK	IDH1	RYR1	MAP2K2	ACVRL1	SMAD4	GNPTAB	USF3
HP_PLETHORA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PLETHORA	JAK2	PRKAR1A	PRKACA	CDH23	VHL	PDE11A	PDE8B	SH2B3	ARMC5	USP8	GNAS
HP_SEBORRHEIC_DERMATITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEBORRHEIC_DERMATITIS	TBX1	CIB1	SLCO2A1	HPGD	COMT	PIGA	BTD	C5	HIRA	PIK3CA	IL7	TKT	TRAF3IP2	ARVCF	SEC24C	RREB1	GP1BB	UFD1	ZNF750	TMC6	RBM8A	MCCC2	CARMIL2	TMC8	JMJD1C
HP_HYPOPIGMENTED_SKIN_PATCHES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPIGMENTED_SKIN_PATCHES	SNAI2	SOX10	FANCM	SEC23B	IRF5	CTLA4	DKC1	COMT	RAD51	MTOR	FAS	DDB2	USB1	FANCC	TBX1	BRIP1	ERF	ACP5	PSAP	TWIST2	PAX3	KIT	ANTXR1	FANCF	HCCS	TMC8	ERCC4	KRT5	KITLG	SLX4	FANCD2	MITF	MC1R	ERCC5	KRT14	AIRE	CD28	IL7	CTC1	ARVCF	KLLN	SALL4	TERC	UFD1	FANCL	CTSC	EDNRB	RAD51C	FANCE	PCNT	CLTRN	JMJD1C	SDHD	FGFR3	XPA	HIRA	CRIPT	TYR	PALB2	NOP10	BLM	CCR6	UBE2T	NPM1	TNFRSF1B	SDHC	MAD2L2	FERMT1	PTEN	FANCA	GALC	KIAA0319L	ERCC3	FANCG	TCF4	IKBKG	NRAS	ABCB6	CAV1	PTPN22	RTEL1	CIB1	EBP	SMO	COX7B	BTK	PIK3CA	FGFR2	RFWD3	TINF2	UBE2A	WRAP53	HLA-DRB1	TERT	BRCA2	XRCC2	SDHB	ERCC2	NDUFB11	SEC24C	RREB1	AKT1	GP1BB	EDN3	NHP2	TMC6	FANCB	CCN2	PARN	BRCA1	XPC	MAFB	FANCI	CHN1	USF3	SLC6A19
HP_NUMEROUS_NEVI	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NUMEROUS_NEVI	KANSL1	CDK4	PIK3CA	PCGF2	HRAS	BRAF	FGFR3	NRAS	STK11
HP_ERYSIPELAS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERYSIPELAS	CCBE1	FLT4	GJC2	FAT4	TNFRSF1A	MEFV	FAM111B	KIF11	ADAMTS3
HP_MILIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MILIA	KRT5	COL7A1	PLEC	SUFU	OFD1	KRT14	LAMA3	SMARCAD1	ITGB4	PTCH1	FERMT1	COL17A1	ITGA6	LAMC2	LAMB3	CYLD	MMP1	PTCH2	PPOX
HP_APLASIA_CUTIS_CONGENITA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_CUTIS_CONGENITA	EOGT	PIGG	DSP	CPLX1	FGFRL1	ARHGAP31	ITGB4	ALX4	MCTP2	PLEC	LAMC2	LETM1	DLL4	ATP6V1B2	KCTD1	CTBP1	COX7B	BMS1	LAMA3	KRT5	DOCK6	LAMB3	COL17A1	ITGA6	HSPA9	NELFA	TFAP2A	COL7A1	MSX2	NOTCH1	RBPJ	TAF1	UBR1	MMP1	NSD2	ALG9	KRT14	KRAS
HP_POOR_WOUND_HEALING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POOR_WOUND_HEALING	SPTLC1	SPTLC2	NTRK1	COL5A1	COL1A1	PLOD1	GJA1	COL1A2	ATL1	CFH	HELLPAR	CDH23	RAC2	GBA	COL12A1	DDR2	C1R	USP8	CFI	F13A1	NGF	ATL3	COL5A2	SERPINE1	ITGB2	AIP	F13B	F8	CD46
HP_PTERYGIUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PTERYGIUM	PHGDH	CHUK	NOP10	XPA	DKC1	RIPK4	IRF6	FKBP10	DDB2	MYH3	LMX1B	HSPG2	ERCC3	NUP88	PLEC	ITGA6	MMP2	GPC6	PITX1	CHRNG	DOK7	RAPSN	MUSK	ERCC5	ITGB4	PLOD2	MMP14	EFNB1	CHRNA1	ERCC4	ERCC2	NHP2	SLC18A3	XPC	MYOD1	CHRND	BHLHA9
HP_AXILLARY_PTERYGIUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AXILLARY_PTERYGIUM	CHRNG	PLEC	RIPK4	CHUK	MYH3	ITGA6	GPC6	ITGB4	EFNB1
HP_ACNE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACNE	PRKAR1A	IL12A-AS1	SLCO2A1	COMT	PDE11A	IL12A	ABCC6	IFNGR1	TBX1	MEFV	HIRA	CDH23	LPIN2	AIP	H6PD	C4A	ENPP1	PSEN1	TLR4	XIAP	HPGD	XYLT1	PDE8B	PSENEN	IL10	RBP4	CYP11B1	PRKACA	ESR1	POFUT1	KDF1	WNT4	KLRC4	HLA-B	PSTPIP1	LHCGR	PAPSS2	AR	AGA	NCSTN	GJB2	ARMC5	CCR1	ERAP1	HYOU1	SH3PXD2B	IL23R	USP8	GNAS	MEIS2	ARVCF	SEC24C	RREB1	GP1BB	KRT5	NR3C1	FGFR2	UFD1	IKBKB	FAS	GJB6	STAT4	POGLUT1	UBAC2	ECM1	GPR101	JMJD1C
HP_STRIAE_DISTENSAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STRIAE_DISTENSAE	TP53	PRKAR1A	PRKACA	COL1A1	SPEN	PDE11A	ABCC6	ARMC5	DLG4	CDH23	SMAD3	GNAS	USP8	ENPP1	TGFBR2	COL5A1	COPB1	PDE8B	CUL4B	TGFBR1	FBN1	COL5A2	AIP	TGFB2
HP_NEUROFIBROMAS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEUROFIBROMAS	SUFU	NF1	SMARCE1	KIT	NF2	LRP1	BAP1	SDHB	TRAF7	TERT	PDGFB	SMO	SPTBN1	SMARCB1	SPRED1	MLH1	SDHC	AKT1	PIK3CA
HP_EPISODIC_HYPERHIDROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISODIC_HYPERHIDROSIS	NF1	SDHB	RETREG1	RET	UCP2	SCN9A	KIF1B	DNMT3A	KCNJ11	SDHA	DLST	ALDOB	ELP1	WNK1	HNF1A	TMEM127	SDHC	SDHAF2	KIF1A	EPAS1	SLC25A11	MAX	SDHD	VHL	FH	ABCC8	MDH2
HP_MOTTLED_PIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOTTLED_PIGMENTATION	KRT5	LMNA	RECQL4	KRT14	RDH11	HPGD	DUOX2	ZMPSTE24
HP_THICKENED_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICKENED_SKIN	WNT10A	ST14	SMAD4	CTLA4	DKC1	IL7R	ITGB4	PERP	ECM1	TNNC1	BRAF	RAG2	POLA1	KANSL1	ITGB6	TRPV3	SLURP1	BAG3	COL6A1	TAT	NEXN	FBN1	HRAS	FGFR3	SUMF1	ASPRV1	EBP	LARP7	COL6A2	TRAPPC11	GTF2H5	KDSR	ERF	KRT10	KRT5	NECTIN1	TMPO	TMPRSS6	LAMC2	ERCC3	HLA-DRA	KRT6B	IGKC	PEX7	MPLKIP	ALOXE3	LAMB3	RAG1	MMP2	GJB4	USB1	KRT6A	KRAS	PNPLA1	DSP	NDNF	CAST	SERPINA12	CD28	GJA1	PRDM16	POMC	KRT16	CTC1	PLEC	GRHL2	GTF2E2	COL7A1	SYNE2	GPR101	LMNA	CLCNKB	TRPM4	AAAS	ALOX12B	POGLUT1	ERCC2	KRT9	PEX5	ATP7A	PAH	TGM1	CARD14	CAVIN1	SPTLC2	PDGFB	MBTPS2	SDHD	HPGD	KRT14	KRT1	PHYH	FKTN	SRD5A3	ABCA12	GJB6	GLS	SGPL1	SDHC	PKP1	TNFRSF1B	HS6ST1	STIM1	SULT2B1	GJB2	COPB1	DDX58	PSENEN	CHD7	RIT1	DSG1	COL6A3	ALMS1	KRT86	RTEL1	IL1RN	SLC45A2	FLT4	ATP2A2	PSAT1	POLD1	DUSP6	UROS	ARSL	COG6	TARS1	FLRT3	PCSK1	NAGA	SERPINB7	SBDS	FLG	ESR1	CIDEC	JUP	DNAJC21	FGF8	SLCO2A1	RNU4ATAC	AKT1	SOX10	HSD11B1	GNPTAB	TRIP4	STS	FKBP14	USF3	IKBKG	PKDCC	DMD	COL12A1	CHKB	VPS33B	KRT83	PEX11B	KRT81	INSR	NLRP3	DCC	LSS	DDR2	FERMT1	DOLK	IL17RA	DES	CLDN1	LAMA3	ZMPSTE24	SMARCD2	PROKR2	COL14A1	MYBPC3	PLIN1	SLC27A4	COL17A1	TERT	CDH3	MAPRE2	PIGL	IL2RB	FGFR1	ERCC5	SRP54	KRT17	MCOLN1	RAF1	TNNT2	PIK3CA	MYPN	SDR9C7	MVK	DIP2B	LTBP2	ABHD5	IGHG2	CCDC141	PEX6	KLLN	AAGAB	TERC	ANAPC1	NIPAL4	NEK9	LTBP3	CSRP3	ABCC9	SPINK5	SPTLC1	NLRP1	CTSC	UROD	TTC7A	PTEN	LIPE	PEX14	SGCD	SOX18	GBA	CDSN	CYP4F22	LDHA	ADAMTS10	TP63	TFE3	KIT	LIPN	KIF11	CFTR	PEPD	SLC29A3	SYNE1	SERPINB8	ALDH3A2	TUBB	NSMCE2	ANTXR2	VEGFC	PEX13	PEX19	BSCL2	FGFR2	ADAM10	PROK2	SLC17A9	HLA-B	ELOVL4	SMARCAD1	LIG4	PMVK	GLA	GJB3	AFF4	RIN2	CAV1	KRT2	TAF1A	AKT2	PPOX	WDR11	PLN	HFE	EFL1	LBR	TYR	PLOD1	LRP1	PEX1	LDB3	MVD	CSTA	XRCC4	AIP	SASH1	FIG4	GJC2	CLEC7A	TACR3	RYR1	GLB1	VPS33A	KANK2	POFUT1	PSMB8	DSG2	GMPPA	TGM5	TXNRD2	CRYAB	NRAS	TNNI3	FLG2	FEZF1	IL17RC	DSG4	LZTR1	WRN	FHL2	ATP2C1	RHBDF2	PPARG	AQP5	NOTCH2	IL17F	EMD	DPAGT1	PPCS	TPM1	LORICRIN	XPA	SLC12A3	TAFAZZIN	SHOC2	NPM1	SEMA3A	KRT6C	AP1B1	VIPAS39	AGPAT2	KLHL24	FHL1	ACTC1	KDF1	MYH7	PSMB4	NF1	HDAC6	SCN5A	ACTN2	IL17RD	POMP	PEX2	GNB2	ANOS1	PDGFRB	ELOVL1	ADA	LEMD3	RSPO1	ERCC4	NHP2	TRAF3IP2	NSDHL	PARN	XPC	GINS1	CARMIL2	ANKRD1	DSC2	PEX16	SEC23B	DSC3	TMEM43	SREBF1	AHSG	DCLRE1C	DDB2	AP1S1	CAP2	IL2RG	MAP2K1	SNAP29	FDPS	NECTIN4	FGF17	EXPH5	ATL3	PEX12	HESX1	PSEN2	PHGDH	COL1A1	RECQL4	PSMB9	MC4R	RBM20	ATL1	MPDU1	TTN	KRT13	PSEN1	CERS3	RNF113A	ADAMTS2	NEU1	ERMARD	CUL4B	ELMO2	KRT74	FOS	MTX2	SDHA	NOP10	MSMO1	NOD2	VCL	PEX10	KITLG	PEX3	HAND2	ZNF750	IL36RN	MYH6	MAP2K2	COL4A5	PEX26	ZC4H2	POLR3A	ORAI1	PIGA	GATA1	TINF2	WRAP53	FITM2	IDUA	CYP19A1	SPRY4	SH3PXD2B	FUCA1	SDHB	TCAP	ENPP1	GATAD1	RMRP	LAMA4	ADAMTSL2	CWC27
HP_CIGARETTE_PAPER_SCARS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CIGARETTE_PAPER_SCARS	COL5A1	COL1A1	COL12A1	COL6A2	COL6A3	CTSC	COL5A2	COL6A1	COL3A1	SLC39A13
HP_ATROPHIC_SCARS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATROPHIC_SCARS	COL7A1	COL5A1	COL12A1	PLOD1	B3GALT6	B4GALT7	COL3A1	LAMA3	LRP1	AEBP1	COL1A1	COL1A2	ITGB4	DST	KRT5	DSE	PLEC	COL17A1	ITGA6	COL5A2	LAMC2	SLC39A13	LAMB3	KRT14	ADA2	MMP1	COL6A1	SMAD3	C1R	CHST14	FKBP14	COL6A2	C1S	COL6A3	CTSC	CARMIL2
HP_BILIARY_TRACT_ABNORMALITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILIARY_TRACT_ABNORMALITY	AKR1D1	TGFB1	CIITA	TNPO3	SCARB2	STK11	TMEM67	SUPT16H	ERCC4	LBR	REL	CPLX1	FGFRL1	FCGR2A	TMEM216	CEACAM6	CCDC28B	RNF43	ABCC2	GATA6	CLCA4	RFXANK	RFXAP	CYP7B1	GBA	CTBP1	PTPN3	HFE	MICOS13	POLG	FARSB	SEMA4D	CLDN1	HMOX1	RFX5	LONP1	NPHP3	TCF4	CC2D2A	LMBRD1	MED12	MMEL1	DZIP1L	IGKC	TTC26	HSD17B4	INPP5E	IRF5	SPIB	LMNA	STX1A	PEX5	CD40LG	SLC26A9	IL12A	UGT1A1	IGHG2	ESCO2	ITCH	USP9X	DCTN4	BBS1	SLC6A14	ABCB4	CFTR	BRCA1	CEACAM3	RFX6	RPGRIP1L	IL12RB1	HSD3B7	TTC7A	ARSA	WDR35	ARL6	GPR35	CEP290	IL21R	LETM1	BRCA2	MIF	MST1	PEX1	EDNRA	IL36RN	TNFSF15	PHKG2	SLC9A3	KIF3B	KCNN4	PSAP	SLC11A1	PKHD1	JAG1	SLC37A4	B3GLCT	DCDC2	MKS1	HNF1B	GCLC	GCGR	GSTM3	NSD2	BCS1L	PEX2	SERPINA1	ZIC3	KIF12	POU2AF1
HP_CHOLECYSTITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOLECYSTITIS	IGKC	ABCB4	NR1H4	PSAP	ATP8B1	TPI1	ALDOA	GDF2	ARSA	GPI	ABCB11	CALR	PKLR	HK1	ENG	IGHG2	F5	BPGM	JAK2	TFE3	ACVRL1	SMAD4	MECP2	PNPLA2
HP_ECTOPIA_LENTIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTOPIA_LENTIS	CPAMD8	GNAQ	COL5A1	FBN1	ASPH	COL11A1	ADAMTSL4	ADAMTS10	GNA11	BCOR	B3GALT6	HSPG2	NDP	P3H2	PAX2	CBS	FBN2	C12orf57	TAP1	MOCS2	PAX6	SALL2	BAP1	COL2A1	LOXL1	SUOX	LTBP2	COL18A1	CHRDL1	WT1	SF3B1	PORCN	ADAMTS17	TAPBP	TAP2	MOCS1	CYSLTR2	PCYT1A	AASS
HP_PAPILLEDEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAPILLEDEMA	PUS7	PTPN23	FAM111A	IDS	TRIP12	NTNG2	SRCAP	VHL	ZMIZ1	SVBP	DDX6	SYNCRIP	TRMT1	BCAS3	UQCRFS1	IFT172	GBA	CTNNB1	MADD	MAPK8IP3	SATB1	KDM4B	BRAF	KCNMA1	PALS1	AGO2	APC	SLC12A2	PSMD12	MED13	DOCK3	SMARCB1	FBXW11	WDFY3	RNF2	WASF1	MED27	ACTL6A	NLRP3	CLCN3	HTT	MMP2	UBR7	IL11RA	KMT2E	BPTF	BAP1	NTNG1	TCF20	SUFU	ZIC1	SPTBN1	GRIA4	SMARCE1	CNOT3	HPDL	NF2	TP53	MMP14	HUWE1	BCORL1	RLIM	TRAF7	ACTL6B	TERT	TNRC6B	SOST	KAT8	PDGFB	SMO	SETD1A	MYT1L	TRAPPC4	EMC10	LMBRD2	CCDC32	DPYSL5	AKT1	JARID2	HS2ST1	TCF7L2	TANC2	ANKRD17	PIK3CA
HP_DEVELOPMENTAL_GLAUCOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVELOPMENTAL_GLAUCOMA	CANT1	CYP1B1	GNAQ	PITX2	FKTN	ATOH7	RPL15	SRY	RNASEH2B	RPS24	FUT8	FZD4	GATA1	SBF2	POMGNT1	FOXC1	ADAR	RPS20	ADA2	TEK	NDP	PXDN	RPS19	POMT2	RPL27	OCRL	NCAPG2	POMT1	PTEN	RPL35A	RPS10	RPL18	RPS17	RPS7	B3GAT3	RPS26	FLNA	RPL31	MAFA	MAB21L1	LMX1B	RPS28	DAG1	LTBP2	RPS15A	RPL35	RPS29	GLIS3	TWIST1	PYCR1	FKRP	TSR2	RPL11	PAX6	RPL5	FGFR2	RNASEH2A	SH3PXD2B	TREX1	RPL26	RNASEH2C	AKT1	RPS27	FOXE3	ADAMTSL1	IFIH1	SAMHD1	CHST3	LARGE1
HP_BRUSHFIELD_SPOTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRUSHFIELD_SPOTS	GATA1	PRR12	PEX2	PEX1	PEX12	PEX26	PEX3	PEX14	PEX6	PEX19	PEX10	PEX13	PEX5	PEX11B	PEX16
HP_IRIS_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRIS_ATROPHY	OVOL2	LRP5	ZEB2	ASPH	COQ2	C1QTNF5
HP_ABNORMALLY_LARGE_GLOBE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALLY_LARGE_GLOBE	CYP1B1	GNAQ	MAB21L1	FKTN	LRPAP1	ATOH7	DAG1	FUT8	KCNJ1	PIGV	CASK	FZD4	PIK3R2	ATR	KCNJ6	SBF2	POMGNT1	GLIS3	TWIST1	FGFR2	FKRP	CPSF1	ARX	ALKBH8	NDP	PXDN	POMT2	CHSY1	OCRL	NCAPG2	SH3PXD2B	POMT1	PTEN	AKT1	ADAMTSL1	POMK	FBN1	B3GAT3	CHST3	WDR26	LARGE1
HP_ABSENT_LACRIMAL_PUNCTUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_LACRIMAL_PUNCTUM	FGFR2	TP63	UBR1	FGF10	FGFR3
HP_OPTIC_NERVE_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPTIC_NERVE_DYSPLASIA	CPAMD8	BRAF	PEX5	PEX2	PAX2	B4GAT1	KIDINS220
HP_IRIDOCYCLITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRIDOCYCLITIS	IL2RA	STUB1	AIRE	STAT4	HLA-DRB1	NOD2	PTPN22	IL2RB	CD247	ANKRD55	PTPN2
HP_HYPERTENSIVE_RETINOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTENSIVE_RETINOPATHY	NF1	SDHB	HSD11B2	VHL	RET	SDHD	KIF1B	DNMT3A	SDHA	DLST	TMEM127	SDHC	SDHAF2	EPAS1	SLC25A11	MAX	FH	MDH2
HP_KERATOCONJUNCTIVITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KERATOCONJUNCTIVITIS	AIRE	IL12A-AS1	NLRP1	IL12A	UROD	IFNGR1	MEFV	SREBF1	FGFR2	IARS2	C4A	TLR4	LBR	FGF10	BTNL2	IL10	NOD2	COL17A1	SCN9A	GSN	HLCS	ERCC3	KLRC4	HLA-B	MPLKIP	GJB2	MAB21L1	MTTP	UROS	GTF2H5	CCR1	ERAP1	GATA1	TARS1	ERCC6	ERCC2	IL23R	RNF113A	GTF2E2	FGFR3	FAS	HLA-DRB1	GJB6	RNF125	STAT4	AEBP1	ERCC8	UBAC2	FBN1
HP_HETEROCHROMIA_IRIDIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HETEROCHROMIA_IRIDIS	SNAI2	KITLG	SOX10	MITF	LMX1B	TYR	KIT	ELP1	OCA2	PNPLA6	ACTB	EDNRB	PAX3	PTEN	MC1R	SALL4	EDN3	ACTG1	GNAQ	AKT1	MAFB	CHN1
HP_ANGIOID_STREAKS_OF_THE_FUNDUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANGIOID_STREAKS_OF_THE_FUNDUS	ENPP1	ABCC6	XYLT2	PTEN	TNFRSF11B	GALNT3	XYLT1	AKT1	PIK3CA	GGCX
HP_ABNORMAL_MACULAR_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MACULAR_MORPHOLOGY	PEX1	TIMP3	DCT	SYCE1	SLC45A2	LZTFL1	TYR	GNAT2	TRIM44	LCA5	PDE6G	CNGB3	APOE	ASAH1	MERTK	RLBP1	ABCC6	CP	PRPS1	NDP	PRPF31	SLC24A5	XYLT1	LRAT	RAX2	ERCC3	IMPG1	MPLKIP	GDF3	IFT140	ELOVL4	MFSD8	BEST1	UGP2	CST3	NF2	FBLN5	HMX1	PRPH2	MAF	ADAR	ARL2BP	RHO	CFAP418	HK1	ABCA4	PROM1	GTF2E2	RPE65	CLDN19	PAX6	TREX1	SLC6A6	CDH3	MPDZ	HPS6	LRP5	GDF6	FZD4	MAPKAPK3	VHL	RPGRIP1	PLK4	GUCA1A	SOX10	RAB28	TLCD3B	COG1	RIMS1	CACNA1F	KIAA1549	LYST	MMACHC	HPS5	TTC8	BLOC1S3	C1QTNF5	OPN1MW	XYLT2	GTF2H5	DPM1	TARS1	CRX	CFHR3	TNFRSF11B	CTNNB1	MFRP	WT1	FBLN1	ATXN7	RPGR	SEMA4A	ERCC2	RDH5	KCNV2	TMCO1	RS1	ZNF408	EDN3	PITPNM3	DHDDS	IKBKG	EPG5	NR2E3	AGXT	IDS	FOXC1	CCNQ	MC1R	MT-TK	CHST6	DPYD	RP1L1	GPR143	DHX38	CFI	VPS13B	CLN3	OPN1LW	BLOC1S5	ARL3	APC	GRK1	MITF	RBP4	NMNAT1	CFHR1	HPS4	GUCY2D	MYO5A	EFEMP1	PRCD	PRR12	POMGNT1	RP9	PPT1	IFT74	PCYT1A	PRPF8	TRNT1	OCA2	REEP6	COL18A1	SPATA7	RNF113A	NEU1	IMPG2	CEP78	FBN2	ZFYVE26	WDR19	SH3BP2	TRAF3IP1	ANO10	DRAM2	EDNRB	PDE6H	ENPP1	PDE6C	NOD2	CTNNA1	ARHGEF18	ALDH3A2	ATOH7	TSPAN12	OAT	ATF6	IDH3A	CYP4V2	CNGB1	MT-TL1	SPG11	PAX2	CFH	CNGA3	MT-TE	SCAPER	BBS5	YARS1	HMCN1	HLA-A	GUCA1B	SMPD1	NRL	RD3	SIX6	SAG	AP3D1	GBA	AIPL1	SLC38A8
HP_MACULAR_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_HYPOPLASIA	COL18A1	FZD4	LYST	NDP	HMX1	ATOH7	MPDZ	MAF	HPS6	PAX6	SLC45A2	DPYD
HP_RETINAL_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_ATROPHY	LAMA1	FKTN	NTNG2	SRCAP	VCAN	ZMIZ1	SNRNP200	ASXL1	LZTFL1	TRMT1	GNAT2	STUB1	LCA5	CNGB3	SATB1	KDM4B	APOE	DHX38	CFI	MERTK	SLC12A2	PSMD12	PRPF31	MED13	DOCK3	RBP4	NMNAT1	CFHR1	IMPDH1	BEST1	POMT1	LRAT	MED27	CLCN3	HTT	GUCY2D	EFEMP1	UBR7	KMT2E	RP9	IFT140	ELOVL4	GRIA4	CTSD	HPDL	TRNT1	PRPH2	REEP6	ARL2BP	RHO	SPATA7	FKRP	CFAP418	HK1	ACTL6B	CEP78	TOPORS	RPE65	TNRC6B	IMPG2	WDR19	RLBP1	SH3BP2	MYT1L	DRAM2	EMC10	SLC6A6	LMBRD2	DPYSL5	PDE6H	ERCC8	PDE6C	TCF7L2	TANC2	PUS7	ALDH3A2	PTPN23	TRIP12	MIR204	CA2	MAPKAPK3	SVBP	DDX6	SYNCRIP	BCAS3	PLK4	POMGNT1	ATF6	IDH3A	GUCA1A	CYP4V2	MADD	MAPK8IP3	KCNMA1	TLCD3B	PALS1	RIMS1	AGO2	PROM1	RAX2	INPP5E	KIAA1549	FBXW11	WDFY3	SLC7A14	RNF2	WASF1	ACTL6A	ALMS1	CNGA3	BPTF	NTNG1	TCF20	ABCA4	RDH11	SPTBN1	C1QTNF5	TIMP3	ARSG	CNOT3	CRX	CFHR3	TNFRSF11B	ERCC6	CDHR1	YARS1	HUWE1	HMCN1	HLA-A	CFH	BCORL1	MFRP	RLIM	NRL	RPGR	KAT8	POMT2	SETD1A	SIX6	RDH5	TRAPPC4	KCNV2	PCYT1A	GBA	CCDC32	RS1	AIPL1	JARID2	TUB	HS2ST1	ANKRD17	LARGE1	HGSNAT
HP_OCULAR_ALBINISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCULAR_ALBINISM	HPS5	AP3D1	BLOC1S3	DTNBP1	PDPN	SOX10	PRKCZ	HSPG2	TYR	SPEN	BLOC1S6	PRDM16	RERE	GABRD	SKI	KCNAB2	EPG5	UBE4B	GPR143	HPS1	BLOC1S5	CASZ1	LUZP1	AP3B1	LYST	HPS4	MMP23B	HPS6	SLC45A2
HP_LEBER_OPTIC_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEBER_OPTIC_ATROPHY	MT-ND4L	MT-ND6	MT-ATP6	MT-CO3	MT-ND2	MT-ND5	MT-ND1	MT-ND4	PRICKLE3	MT-CYB
HP_POSTERIOR_POLAR_CATARACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_POLAR_CATARACT	BBS2	APC	ZBTB20	ITM2B	EPHA2	PITX3	CRYAB	VIM
HP_MACULAR_COLOBOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_COLOBOMA	NMNAT1	LRAT	PRPS1	RPE65	LCA5	MMACHC	CLDN19	SPATA7	DHX38
HP_SUDDEN_LOSS_OF_VISUAL_ACUITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUDDEN_LOSS_OF_VISUAL_ACUITY	CDH23	AIP	CTNNB1	BRAF	MEN1
HP_JUVENILE_CATARACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JUVENILE_CATARACT	RDH11	RECQL4	TGM3	MECP2	ADNP	ANAPC1	LEMD2	CYP27A1	SPTBN1	FAR1	NACC1
HP_ABNORMALITY_OF_CORNEAL_SIZE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CORNEAL_SIZE	MAF	PIGG	MLXIPL	FKTN	ZEB2	HDAC8	B3GALNT2	PLOD1	MIR184	TMEM216	OTX2	GTF2I	BCOR	ACTB	MT-CYB	NDP	NCF1	CTCF	HSPG2	EBP	DAG1	CRYBB2	TCTN2	LIMK1	CRYGC	EIF4H	ACTG1	NELFA	GNPTAB	ERCC3	RXYLT1	TBX22	MPLKIP	LETM1	CENPF	B9D1	CSPP1	CTDP1	CRYAA	TMEM237	NHS	HMX1	SALL4	FKRP	NSD2	GTF2E2	FANCB	FKBP14	LARGE1	GORAB	ERCC2	SC5D	RAB3GAP1	SMC3	POMT1	MAB21L2	MED25	TBL1XR1	FZD4	CEP290	PLK4	CRYBB1	CPLX1	BCL7B	TBC1D20	FBN1	COL4A1	GMPPB	RPGRIP1L	PITX3	PITX2	NIPBL	POMGNT2	GJA1	GTF2H5	HMGB3	TARS1	NAA10	RPGRIP1	JAG1	RAB18	FOXE3	METTL27	POMT2	TBL2	GJA8	WNT3	MAFB	CHN1	SMC1A	TMEM231	PRDM5	B9D2	FGD1	B3GALT6	PAX6	KDM6A	RAD21	POMGNT1	ANK1	RSPO2	ELN	DPYD	TMEM270	PPP2CA	PXDN	RFC2	RECQL4	RBP4	RAB3GAP2	TENM3	UBE3B	PRR12	FKBP6	KIFBP	BRD4	TUBB	STX1A	MAPRE2	BMP4	ADAMTS18	PIK3R1	TINF2	BAZ1B	RAB23	RAI1	TCTN3	RNF113A	ERCC6	POMK	CTBP1	BUD23	LTBP2	TXNDC15	DNAJC30	TCTN1	ERCC8	KRAS	TFAP2A	FLI1	GTF2IRD2	ATOH7	COL11A1	FLII	FOXL2	VPS37D	DEAF1	KIF11	CRPPA	KMT2D	LMX1B	FGF3	CHST14	TMEM107	TBX15	B4GAT1	CRYGD	TMEM67	ARL2	MKS1	FGFR2	PRSS56	CDH11	B3GLCT	CC2D2A	TEK	CHRDL1	IQSEC2	CLIP2	BEST1	SH3PXD2B	PYCR1	GTF2IRD1	KCNMA1	SLC16A12	CRYBA4
HP_VISUAL_FIELD_DEFECT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VISUAL_FIELD_DEFECT	MT-TW	VCAN	OPA1	GNAT2	PEX1	MSX2	LCA5	MT-CYB	CNGB3	DNM1L	ITM2B	SDHA	MT-TL1	MT-ND1	HLA-B	MT-ND5	MT-TV	PRPF31	TIMM8A	MT-ATP6	LRAT	GNAQ	BAP1	ELOVL4	MFSD8	AGBL5	C1QTNF5	RP2	SMARCE1	BEST1	NF2	OPA3	DLAT	MLH1	RHO	THSD1	TULP1	CFAP418	USP8	HK1	ABCA4	PROM1	CNGA1	TRAF7	RPE65	ADA2	MT-ND4L	SMO	GPR101	RNU4ATAC	TREX1	MYO7A	MT-ND4	SLC6A6	ADGRV1	PEX5	AKT1	MFN2	NR2F1	PRPH2	AKT3	MT-ND6	CDH23	CHM	RPS20	CTNNB1	MT-CO1	TWIST1	RAB28	TCF12	FDXR	SEMA4A	SMARCB1	AMACR	SLC7A14	TMEM126A	ALMS1	CYP1B1	CLCN2	MT-CO3	MMP19	IMPG1	PRPF3	CACNA1A	CACNA1F	MTRFR	KIF3B	FXN	SUFU	SOST	P4HA2	HKDC1	EPCAM	PEX2	COL3A1	ACO2	COL18A1	ARSG	CRX	PMS2	HARS1	SCN1A	ZIC1	POU3F4	USH2A	TERT	PDGFB	PRRT2	PIK3CA	RPGR	RDH5	KCNV2	PEX16	HGSNAT	ROM1	PTPN22	AIRE	MT-TF	IDS	MPL	MT-CO2	PEX11B	IBA57	IFT172	KIZ	NDUFS2	TGFBR3	MLH3	CACNA2D4	ARL3	MT-TC	AIPL1	TGFBR2	WHRN	MYOC	ENG	IDH3B	IMPDH1	PEX12	EYS	GUCY2D	EFEMP1	SLC25A46	CLRN1	MSH2	POMGNT1	RP9	KRAS	PMS1	CFI	PRPF8	CYP4V2	MT-ND2	THPO	TRNT1	FA2H	SPATA7	IMPG2	RLBP1	TOPORS	PEX6	SH3BP2	ASB10	PDE6A	PDE6H	USH1C	CEP78	PDE6C	ATP1A2	FGFR3	JAK2	ARHGEF18	BBS2	HLA-DRB1	CFAP410	CIB2	BTD	COL4A1	FLVCR1	OAT	ZNF513	RBP3	MSH6	RTN4IP1	ATF6	IDH3A	PEX14	BRAF	TUBB2B	FAM161A	PEX10	CNGB1	PEX3	MAK	BMPR1A	POC1B	AIP	DNAJC30	SH3TC2	MT-TS2	CNGA3	CERKL	FAN1	ANGPTL6	USH1G	PEX26	RDH11	MTTP	PEX13	PEX19	ESPN	SETD5	TIMP3	MEN1	RP1	CDHR1	PDE6G	YARS1	HLA-A	CFH	MT-TQ	PCDH15	ZNF408	MT-TK	RGR	PDZD7	CWC27	ARL6
HP_CRYPTOPHTHALMOS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRYPTOPHTHALMOS	TWIST2	FRAS1	FREM2	GRIP1	FREM1
HP_CORNEAL_DYSTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORNEAL_DYSTROPHY	SLC4A11	MAF	ZEB1	OSMR	TACSTD2	GSN	SLC25A4	CHST6	TGFBI	CRYBB2	COL17A1	CRYGD	OPN1MW	GNAQ	AGK	MBTPS2	UBIAD1	KRT12	COL8A2	DCN	CRYGC	GLA	CRYBB1	CYP4V2	CRYAA	CHRDL1	PRDM5	PIKFYVE	TKFC	ZNF469	GJA8	TRIM37	OPN1LW	AGBL1	CRYBA4	EXOSC2
HP_LENS_SUBLUXATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LENS_SUBLUXATION	SALL2	GNAQ	BAP1	P3H2	LOXL1	CYSLTR2	CBS	COL2A1	PCYT1A	CHRDL1	GNA11	SF3B1
HP_CONSTRICTION_OF_PERIPHERAL_VISUAL_FIELD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONSTRICTION_OF_PERIPHERAL_VISUAL_FIELD	ROM1	ALMS1	AIRE	IDS	PEX1	PEX11B	IFT172	LCA5	KIZ	SDHA	CACNA2D4	ARL3	AIPL1	PRPF31	MYOC	CFAP418	IDH3B	MT-ATP6	IMPDH1	PEX12	LRAT	EYS	GUCY2D	PRPH2	OPA1	CLRN1	POMGNT1	RP9	AGBL5	RP2	PRPF8	CYP4V2	DLAT	RHO	TULP1	SPATA7	TIMM8A	HK1	ABCA4	PROM1	CNGA1	RPE65	PEX6	RLBP1	SH3BP2	PDE6A	RNU4ATAC	SLC6A6	PEX5	BBS2	OAT	ZNF513	RBP3	IDH3A	PEX14	CHM	FAM161A	PEX10	CNGB1	PEX3	POC1B	TMEM126A	SH3TC2	CERKL	CYP1B1	PEX26	CRX	RDH11	KIF3B	SOST	PEX13	PEX19	HKDC1	PEX2	ARSG	RP1	CDHR1	PDE6G	YARS1	ZNF408	POU3F4	SEMA4A	RDH5	RGR	CWC27	ARL6	PEX16	HGSNAT
HP_CHORIORETINAL_DYSTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHORIORETINAL_DYSTROPHY	PNPLA6	VPS13B	UBE3B	EP300	CREBBP	RNF216
HP_RETINAL_ARTERIOLAR_TORTUOSITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_ARTERIOLAR_TORTUOSITY	TBX1	COL4A1	LRP5	MLXIPL	GTF2IRD2	FKBP6	FZD4	COMT	ELN	STX1A	HIRA	VPS37D	BAZ1B	BCL7B	ARVCF	SEC24C	TMEM270	GTF2I	RREB1	NCF1	METTL27	TBL2	CLIP2	RFC2	GP1BB	BUD23	UFD1	MT-ATP6	GTF2IRD1	LIMK1	EIF4H	DNAJC30	JMJD1C	NDP
HP_ALTERNATING_ESOTROPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALTERNATING_ESOTROPIA	COG8	DPP6	CLCN6	LMNB1	APC	PPP2R5D	SLC38A8
HP_OPTIC_NEUROPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPTIC_NEUROPATHY	TSFM	ABCG8	MT-ND4L	NDUFB3	AGXT	NDUFA1	NDUFB9	BTD	TXN2	NDUFAF5	MT-ND6	NDUFS8	NDUFS3	NDUFA13	LDLR	NDUFAF4	MT-ND5	MT-ND1	NDUFB11	NDUFV1	FOXRED1	NDUFA11	MYOC	MT-ND3	NDUFS2	NDUFS4	CYP1B1	APOB	CLCN2	MT-ND4	NDUFB10	LDLRAP1	NDUFS7	NDUFV2	NDUFA6	ATN1	TMEM126B	PCSK9	CISD2	GP1BA	NDUFS6	MT-ATP6	NOTCH3	CYP27A1	NDUFAF1	MTRFR	TIMMDC1	MT-CO3	NDUFAF2	NDUFAF8	SH3BP2	NDUFAF3	HLA-DRB1	NDUFS1	MT-ND2	NUBPL	ABCG5	MT-CYB
HP_CHOROIDEREMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOROIDEREMIA	IMPG2	IMPG1	POU3F4	PRPH2	UBE3B	BEST1	CHM	EPHA2
HP_LIMBAL_DERMOID	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMBAL_DERMOID	FGFR1	DACT1	PTEN	SALL1	KRAS	AKT1
HP_SEVERELY_REDUCED_VISUAL_ACUITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERELY_REDUCED_VISUAL_ACUITY	CNGB3	SPATA7	AIPL1	ALG3	CRX	RPE65	NHS	C1QTNF5	GUCY2D	TIMP3	IQCB1	LRAT	TSPAN12	NDP	NMNAT1	ZNF513	USP45	KCNJ13	NPHP4	GDF6	RDH12	CYP4V2	IFT140	CTNNB1	LRP5	TULP1	PROM1	HPS1	CEP290	CRB1	IMPDH1	CACNA1F	STX3	RPGRIP1	FZD4	LCA5	PCYT1A	ZNF408	RD3	CHST6
HP_LENTICONUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LENTICONUS	COL4A3	COL4A4	COL4A6	PRPH2	LAMB2	RDH5	RLBP1	RHO	COL4A5
HP_ORBITAL_CYST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORBITAL_CYST	PAX1	SUFU	PTCH2	PAX2	PTCH1	BMP4
HP_RETINAL_EXUDATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_EXUDATE	TSPAN12	LRP5	CTC1	FZD4	TINF2	NDP	TREX1
HP_IMPAIRED_HORIZONTAL_SMOOTH_PURSUIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_HORIZONTAL_SMOOTH_PURSUIT	ATXN3	STXBP1	ATXN1	ATXN2	EEF2	RFC1	POLR3B
HP_SACCADIC_SMOOTH_PURSUIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SACCADIC_SMOOTH_PURSUIT	TPP1	CACNA1G	ATP2B3	ATN1	SETX	CACNA1A	STUB1	RUBCN	KCND3	SCYL1	TMEM240	PMPCA	PIK3R5	FMR1	PRKCG	ANO10	SPG11	ZFYVE26	ALS2	GJB1
HP_SEPTATE_VAGINA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEPTATE_VAGINA	INTU	HOXA13	GATA3	DHCR7	MKKS	TP63	ZEB2	WT1	UBR1	BCOR	MNX1
HP_BRACHYDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRACHYDACTYLY	SMAD4	OFD1	KAT6A	PRKACB	CITED2	BBIP1	LZTFL1	CCDC28B	RB1	MSX2	RRAS	ITGB6	NKX2-5	BBS4	RIT1	FGFR3	NKX2-6	ARL6	CHSY1	ROR2	IFT140	HDAC4	FAM149B1	RUNX2	PAX3	TCF12	PAH	BMPR1B	COL11A2	GATA4	DYNC2H1	PRMT7	ARHGAP31	CTSK	TWIST1	GNAS	MYCN	RSPRY1	HOXD13	LBR	ESCO2	SALL4	COL2A1	CILK1	PTCH2	DVL3	KDSR	SLC26A2	ERF	EHMT1	PNPLA6	SDHD	WAC	SNX14	NLRP3	EFNB1	WDR35	MRAS	SDHC	SLC35C1	ARID1A	ACAN	SMC1A	PPM1D	FAM20C	RAI1	MED12	TASP1	FGFR1	NEPRO	TOPORS	GJA1	IFT81	POR	PDE4D	ATRX	TONSL	TELO2	PRDM16	CHD7	PITX1	IFT43	CSPP1	ALX3	PIGN	NXN	GATA1	LMNA	ZDHHC9	SLC2A1	RNU4ATAC	MAP3K7	AKT1	IFT52	NOG	TGFBR2	GDF5	STAMBP	FLT4	COL11A1	MAGEL2	DVL1	FTO	USF3	SPEN	CAMK2G	RERE	DYNC2I1	EXTL3	LSS	SMARCA2	DLL4	SIL1	AFF4	FAM111A	KRAS	IFT172	SMARCD2	HOXA13	LIG4	LTBP3	MEGF8	SIK3	SPRED2	KIAA0753	MYMK	POMP	GDF6	BMP4	MACROH2A1	FLNA	DOCK6	DCPS	CSGALNACT1	IFT80	EPB41L1	TRPV4	LTBP2	RBBP8	GATA5	KLLN	WDR19	PDE3A	REV3L	NBAS	ALG6	GLI3	PCNT	KIF7	FLNB	TMEM67	GDF1	FLII	TRIO	POC1A	MAF	DEAF1	WNT5A	KAT6B	PTCH1	IARS2	MKKS	PPP1CB	PTDSS1	PTH1R	PIK3R1	ADAMTS10	WNT4	RDH11	ANTXR2	PAPSS2	PIK3CA	B3GLCT	BBS5	CHST3	RLIM	MYSM1	ZIC1	PLXND1	TTC21B	ADAMTS17	IHH	CPLANE1	TRPS1	RPS6KA3	RIN2	PIGK	EXOSC2	KCNJ2	PTPN11	CANT1	FGF9	EOGT	SUFU	RAD21	COMP	IFT122	BRAF	ALG8	SNRPN	DONSON	INPPL1	FBN1	RAF1	FBXW11	SPECC1L	C12orf57	NPR2	KCNK4	FGFR2	PRKAR1A	CEP120	TBX22	ZMIZ1	PGM3	PUF60	BGN	FGD1	PRKCZ	POP1	CHRNA7	CCDC32	IGF2	UBE4B	SEMA3E	KDR	SCUBE3	NOTCH2	CUL4B	RMRP	HUWE1	GHR	BBS1	DYNC2I2	ARID2	BPNT2	GPX4	FZD2	TFAP2B	CRIPT	JAG1	KCNAB2	TBX15	ATP6V1B2	GJB3	WASHC5	EVC	PIGS	SOS1	DYNLT2B	SHOC2	BMP2	MMP23B	NIN	KIF15	SHOX	EXT1	PDPN	NOTCH1	MGAT2	KLF13	NSUN2	GNB2	RAB23	BBS9	PDGFRB	NRAS	GNAS-AS1	SOS2	PORCN	UPF3B	YY1AP1	TBX1	IFT57	MAFB	CHN1	SMC3	RASA2	SEC23B	ADNP	HSPG2	MBTPS1	DHCR7	POGZ	ALX1	HHAT	TMEM216	KDM6A	AHSG	KIAA0586	PTHLH	DYNC2LI1	DYM	AIFM1	LONP1	KDM1A	TRIP11	SLURP1	MIR17HG	KDM5C	PCYT1A	PLCB3	SRCAP	EVC2	CASZ1	CHST11	INPP5K	RRAS2	SIN3A	LZTR1	ZFPM2	TNNT3	BHLHA9	TCTN3	CCDC22	MIR140	PDE6D	RHOA	GJB4	PTEN	MAP2K1	LUZP1	SLC35D1	ATP7A	MRPS16	PPP3CA	GJA5	CSNK2A1	CDH11	GATA6	GABRD	SKI	SH3PXD2B	NEK1	SDHB	IQSEC2	CBL	RBPJ	CEP55	DPF2	STX16	GPC4	CWC27	SPART
HP_SYNDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNDACTYLY	RERE	SEM1	SMAD4	OFD1	RPL10	TP63	RTTN	CCDC28B	CLCN4	NDN	RAD51	RB1	TWIST2	GPC3	ABCC9	RBM8A	CKAP2L	BBS4	FANCC	BCOR	EZH2	CHSY1	ROR2	NECTIN1	PHF21A	IFT140	HDAC4	FAM149B1	PAX3	TRIO	AP2M1	FANCF	YY1AP1	SDCCAG8	ERCC4	TTC26	SBF1	GPC4	FANCD2	IFT27	RBM10	IGF2	IRF6	ARHGAP31	LMBR1	WDR19	TWIST1	BBS5	CHRNG	SALL4	MYCN	FGF10	BMS1	IFT74	HOXD13	CEP290	BMPR1B	CEP19	ESCO2	BBS7	CRKL	FANCL	CDH3	FGFR2	CILK1	FRAS1	DVL3	NEK1	SC5D	GJA1	LRP4	HOXA11	SMC3	PLAG1	ZSWIM6	PHGDH	SLC25A24	BHLHA9	PNPLA6	SLC12A2	TBCK	SMC1A	NEDD4L	DSP	DHODH	EED	GLI3	EFNB1	FREM2	WDR35	MAD2L2	PLEC	SHANK3	ZEB2	ARHGEF6	FANCA	MYH3	SLC2A1	IQSEC2	DDX6	MKRN3	SMOC1	NIPBL	CD96	FLNB	EBP	TOPORS	IFT81	FLNA	SOX5	MED25	TMEM94	ZNF711	TELO2	IFT43	NARS1	SEMA5A	MEIS2	NXN	FBLN1	LMNA	MAP3K20	NPAP1	DHCR7	NOG	TGFBR2	CREBBP	PPP1R12A	FGFR1	FANCB	FAT4	DVL1	USP9X	AKT1	ARL6IP6	FANCI	NEXMIF	FIG4	ATP6V1B2	FGD1	CCNQ	WDPCP	TMEM231	RAD21	TRIM32	DYNC2I1	IFT172	PRKD1	ASXL1	ERF	DLL4	SNRPN	FERMT1	SLC6A1	SYT1	LIG4	DLG3	ADAMTS3	MEGF8	SIK3	MYH8	RIPPLY2	BICRA	KIAA0753	BRD4	CDH1	IRX5	HMGA2	BMP4	SOST	KCNJ2	DYNC2H1	DOCK6	CSGALNACT1	MKKS	RAI1	MEF2C	CDIN1	VPS13B	RBBP8	FRMPD4	MAGEL2	NEK9	RAB39B	REV3L	NBAS	RAD51C	FANCE	GRIP1	KIF7	MRPS28	DLL3	GDF5	FLI1	FLII	GNE	AGTR2	BTRC	DEAF1	WNT5A	EP300	FDFT1	SALL1	SMO	PTDSS1	CFAP418	SCN1A	WNT10B	IL11RA	SNORD115-1	B3GLCT	SETD5	SATB1	UBE2A	USP27X	PDE6D	BRCA2	XRCC2	PLXND1	CPLANE1	ZNF81	OTUD6B	PAK3	SNORD116-1	MECP2	PIEZO2	BRCA1	PORCN	SVBP	POLR3GL	FGF9	EOGT	HDAC8	RALA	IFT122	RIPK4	PITX1	MCTP2	TBC1D24	APC	CTCF	ZNF41	FBXW11	KCTD1	CHD2	GDI1	SPECC1L	FTSJ1	CNOT2	PSMD12	CEP120	VAC14	TBX22	ZMIZ1	BBS9	CACNA1G	XYLT1	MAN1B1	SHH	DCHS1	RBPJ	ITGB4	TTI2	MESP2	ARCN1	EPS15L1	CERT1	SUZ12	SLC9A7	KAT6A	FGFR3	CCBE1	SLC12A6	CNKSR2	EN1	BBS1	NSD1	ZNF699	CDKN1C	ORC1	FZD2	TFAP2B	CRIPT	PALB2	SETD2	ARL6	CACNA1C	SF3B4	DMD	WASHC5	SYNGAP1	FANCG	MKS1	LFNG	ACSL4	BMP2	CDC45	SYP	PIK3CA	TXNL4A	NOTCH1	NSUN2	TSPAN7	RAB23	DACT1	NAA10	MAPK1	LEMD3	MED12	CDAN1	PWAR1	AP1G1	WNT7A	FANCM	APC2	CHUK	ADNP	IL1RAPL1	MTRR	CTNND1	TMEM216	MECOM	BBS12	TTC21B	DYRK1A	STAG1	BRIP1	NECTIN4	ANKRD11	DLX5	LZTFL1	SLX4	MIR17HG	SMARCAD1	MID2	PIGY	CCDC22	KIAA1109	PUF60	TCTN3	SCAPER	ARX	ALG13	BBS10	CUL4B	STEEP1	SIN3A	BCR	DYNC2LI1	CLCF1	MED13L	RHOA	BLM	KCNJ8	HERC2	UBE2T	BBIP1	KCNJ5	SLC39A8	UBE3A	HEPHL1	BBS2	HES7	IKBKG	IFT52	TBX15	PWRN1	UPF3B	DYNC2I2	RPS6KA3	PTEN	JUP	TTC8	TBR1	POLR3A	CTNND2	CDH11	SHMT2	PTCHD1	IFT80	RFWD3	TBX5	NPHP1	DDX11	KIFBP	CEP55	DLX6	HCFC1
HP_HAND_POLYDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAND_POLYDACTYLY	PIGG	OFD1	COMT	TMEM67	TMEM237	PRKACB	LZTFL1	CEP120	AKT3	MKS1	TMEM216	CCDC28B	HYLS1	GPC3	INPP5E	SMOC1	EVC	IFT172	CHSY1	CTBP1	CEP41	C2CD3	MBTPS2	TCTN2	GLI1	IFT140	FAM149B1	CC2D2A	NELFA	TFAP2A	TMEM231	AHI1	SDCCAG8	TBX1	GPC4	PROP1	BBS9	IFT27	RBM10	BBS2	SHH	BMPR1B	LETM1	PIBF1	DDX59	TBX3	CPLANE1	B9D1	CSPP1	LMBR1	BBS5	FANCB	ZIC3	SALL4	TCTN1	NSD2	IFT74	CFAP418	EVC2	HOXD13	ARVCF	CHD7	CEP290	ARMC9	CEP19	UFD1	ALX3	BBS1	NEK1	SC5D	ZNF699	SEMA3E	BBS7	PNPLA6	LHX4	RPGRIP1L	TFAP2B	HIRA	LHX3	GLI3	EFNB1	ABCA12	CPLX1	WDR35	ARL6	WASHC5	TGFBR1	DYNC2LI1	TMEM107	PIK3R2	DYNC2I1	CD96	EBP	TOPORS	SMO	NPHP1	RAB23	DACT1	RPGRIP1	POU1F1	PORCN	KIAA0586	SEC24C	DHCR7	FGFR2	TMCO1	MAFB	CHN1	WNT7A	B9D2	KIAA0825	FGFRL1	PLAA	TRIM32	BBS12	TTC21B	EFTUD2	PIK3CA	ZNF423	BBS4	ZNF141	DYNC2I2	HOXA13	KATNIP	CBY1	MEGF8	KIAA0753	FLNA	CEP104	BMP4	FANCD2	KIF7	DYNC2H1	TWIST1	OTUD5	MKKS	GLI2	RAI1	PUF60	IFT80	TCTN3	SCAPER	BBS10	LBR	TXNDC15	CIBAR1	JMJD1C	BHLHA9	FLI1	CCDC22	FLII	WDPCP	PDE6D	CCND2	BLM	SH2B1	HESX1	DEAF1	PHF8	BBIP1	SUFU	SALL1	GJA1	ARL3	TTC8	ARL13B	TMEM138	SETBP1	PTEN	GDF5	WDR19	RREB1	IQSEC2	EXTL3	GP1BB	ACOX1
HP_POSTAXIAL_HAND_POLYDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTAXIAL_HAND_POLYDACTYLY	GPC3	B9D2	OFD1	TMEM67	PRKACB	DHCR7	KIAA0825	LZTFL1	AKT3	PLAA	PIK3R2	TMEM216	TRIM32	CCDC28B	HYLS1	DYNC2I1	IFT172	BBS12	GLI3	TTC21B	INPP5E	SMOC1	EVC	DYNC2LI1	BBS4	C2CD3	BBS1	MBTPS2	TCTN2	ZNF141	IFT140	DYNC2I2	CC2D2A	HOXA13	TMEM231	CEP120	SDCCAG8	MEGF8	GPC4	BBS9	IFT27	BBS2	SHH	FLNA	BMPR1B	DDX59	TBX3	B9D1	CSPP1	LMBR1	KIF7	TMEM237	BBS5	DYNC2H1	OTUD5	RAB23	MKKS	GLI2	IFT80	TCTN3	IFT74	CFAP418	EVC2	SMO	CEP290	SCAPER	ARMC9	CEP19	FGFR2	ALX3	BBS10	LBR	TXNDC15	TCTN1	NEK1	SC5D	CIBAR1	BHLHA9	BBS7	RPGRIP1L	WDPCP	ARL6	CCND2	WDR35	BBIP1	TMEM107	MKS1	TGFBR1	TTC8	CD96	SETBP1	GDF5	RPGRIP1	PDE6D	NPHP1	PORCN	WDR19	TMCO1	WNT7A
HP_ABNORMALITY_OF_THE_METACARPAL_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_METACARPAL_BONES	CANT1	FGF9	EOGT	SUFU	SRY	HDAC8	VPS35L	FLNB	COL2A1	COMP	ROR2	RIPK4	SALL4	DONSON	NOG	SMOC1	LMBR1	APC	EIF4A3	CTBP1	GDF5	GLB1	HDAC4	PRKAR1A	FAM149B1	COL11A2	RUNX2	TRIO	VAC14	BGN	GNAS	XYLT1	MMP2	BMPR1B	EXT1	PTPN22	TBX3	FZD2	MYLPF	FANCI	EXT2	RSPRY1	MAFB	PEX7	DDR2	KNSTRN	HOXD13	SHOX	ESCO2	TRPS1	PTCH2	NEK1	SLC26A2	RMRP	SMC3	BPNT2	COL9A3	CHST3	COL9A2	NONO	INTU	GPX4	FGF16	LRP5	RECQL4	ARHGAP31	GJB6	IHH	BMP2	COG4	B3GALT6	NPR2	WNT7A	PIGS	CD247	CHSY1	NPR3	SLC39A13	GUSB	PTH1R	CD96	FLNA	NEPRO	CPLANE1	TOPORS	SETBP1	PDE3A	CLCN7	MAP3K7	POR	NOTCH1	PDE4D	COL3A1	CSPP1	GNAS-AS1	PORCN	NHS	RNU4ATAC	IFT52	NSD2	RPS6KA3	FAT4	AKT1	SLC25A24	SHH	PRMT7	SMC1A	PRG4	FIG4	RTL1	DHCR7	DCHS1	ASXL1	FBXL3	CPLX1	FGFRL1	PIK3CD	LONP1	RAD21	HHAT	TMEM216	ADAMTS10	GALNS	GLI3	NIPBL	NFIX	SMARCA2	VPS13B	KIAA0586	FERMT1	SIL1	PTHLH	SPARC	RAB3GAP2	COL9A1	FGFR3	DYM	P3H1	LBR	OFD1	TRIP11	LTBP3	B3GAT3	PTPN2	KIAA0753	BRD4	RAB33B	KL	SCARF2	PCYT1A	FANCD2	KIF7	SRCAP	DOCK6	MEG3	IFT80	DNMT3A	FBN1	INPP5K	ANAPC1	REV3L	PRKG2	ABCC9	TCTN3	TCF12	TWIST2	PDE6D	POC1A	MATN3	RNF13	PTCH1	LETM1	MKKS	SALL1	HOXA13	FGFR1	PTDSS1	ANKRD55	IL2RA	KIF22	PTEN	TFE3	TWIST1	DLL4	HFE	DLK1	MYSM1	BHLHA9	TBX5	STAT4	ZIC1	MMP14	B3GLCT	IFIH1	SH3PXD2B	IL2RB	PLXND1	TP63	PCNT	RBPJ	EXTL3	FBLN1	PHYH	PQBP1	ACVR1	SVBP	STX16	LRP4	CWC27	ADAMTSL2	KCNJ2
HP_ARACHNODACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARACHNODACTYLY	PIGG	YRDC	TGFB3	TGFBR1	COMT	POR	UNC80	BMP15	LOX	B3GALT6	PLOD1	SPIDR	STUB1	MAT2A	KANSL1	FGFR2	PIEZO2	ELN	TBX1	POLR3H	PQBP1	FBN2	SOX6	PYCR2	NELFA	PRKG1	AMER1	BMP1	CTSC	LETM1	ACTA2	COL2A1	SATB2	SCARF2	DSE	SLC2A10	DLG4	CHRNG	FARSA	NSD2	SON	VPS13B	ARVCF	TGFBR2	FGFR3	CBS	CTBP1	ACTG2	FLNA	UFD1	SH2B1	CRKL	ZNF469	FBN1	MTM1	SMAD3	DPAGT1	COL11A1	SIN3A	MFAP5	JMJD1C	UBE3B	BCR	PTCH1	PAPPA2	NALCN	HNRNPH2	B4GALT7	HIRA	BNC1	SUFU	LAGE3	SMAD4	CPLX1	EFEMP2	PHF8	ZEB2	NKAP	CYP26B1	SKI	NUP107	SMAD2	CHST14	OSGEP	ASXL3	TGFB2	FOXE3	NPR3	CNTN1	ABL1	IPO8	PEPD	MED12	MYLK	HERC1	PSMC3IP	PTCH2	ZDHHC9	FBLN5	SMS	NARS1	SMARCE1	MAPK1	PRDM5	ALG14	C1R	HEY2	UPF3B	SEC24C	FSHR	RREB1	NPR2	NR5A1	OTUD6B	GP1BB	MYH11	MRPS22	AEBP1
HP_ABNORMALITY_OF_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FINGER	LMNB2	PYROXD1	LZTFL1	FCGR2A	RTTN	CLCN4	RB1	HYLS1	XYLT1	SALL4	RRAS	GPC3	CDC42	BCOR	CHSY1	CEP41	RAB11B	MED27	IFT140	HDAC4	FAM149B1	RUNX2	ZMPSTE24	FANCF	EXOSC5	UBE2T	KATNB1	ERCC4	FANCD2	PAH	RBM10	ODC1	BMPR1B	KRAS	FZD2	IGHMBP2	WDR19	CTSK	BBS5	ZIC3	CHRNG	RAD51C	FGF10	SLC39A13	MYCN	CEP290	EMC10	LMNA	HESX1	KDSR	TNNI2	BBS7	TRIP12	HPGD	HOXD13	DHODH	FANCC	GMNN	LAMC2	SMARCB1	GLI3	WIPI2	EFEMP2	MAD2L2	NALCN	FANCA	KMT2C	CLCN3	SMARCA4	TGFBR1	LAMB3	FBXW11	DDX6	PIK3C2A	RAB3GAP1	TCF20	RPL35A	RPS26	NIPBL	CD96	FLNA	TMEM94	BRF1	ZNF711	FBLN5	TONSL	SMS	ARID1B	RPS15A	IGF2	WDR35	ALX3	RLIM	GATA1	ZDHHC9	NPR2	KCNN3	TGFBR2	GNPTAB	PTRH2	RAB3GAP2	STAMBP	FLT4	DYRK1A	MYT1L	TCTN2	FIG4	PKDCC	SPEN	RPL15	ADAT3	GDF5	LONP1	RAD21	PLAA	FGFR2	LEMD3	ELN	WNK1	IL21	VPS13B	SNRPN	TBX1	KCNH1	LIG4	OFD1	QRICH1	FGFR3	HOXA13	ADAMTS3	MEGF8	MGP	CEP104	SOST	PIGL	HPDL	SLC26A2	RUSC2	SMARCD1	TNNT3	CSGALNACT1	RETREG1	RAI1	PDE4D	ERCC6	EMG1	POLA1	MAGEL2	BUD23	MKKS	PMM2	FANCE	ALG6	DNAJC30	TFAP2A	ACTL6B	CIBAR1	CHRND	RNU4ATAC	PNKP	PUS7	LMBR1	FLI1	SIAH1	SYNCRIP	SCN1B	DEAF1	PHF8	CRLF1	TAPT1	PTCH1	AGO2	CCNQ	RPS19	FGFR1	EMC1	TMEM107	GGCX	NOG	CBS	OSGEP	ADAMTS10	CSPP1	ACAN	MKS1	TRIP13	EP300	DVL3	SPTBN1	PTEN	DOCK3	MAPRE2	USP27X	PRDM5	ALG14	C1R	PLXND1	SOX5	RNF216	ABCD1	KAT8	IFT172	ZNF81	CCND2	WNT7A	COX4I1	RECQL4	BRCA1	MYOD1	PYCR2	POLR3GL	KDM6B	EFL1	SUPT16H	BMP15	HDAC8	ALDH18A1	KRT14	FLNB	COMP	IFT122	KDM4B	AIP	ASAH1	SMOC1	EBP	CTBP1	MBTPS2	CEP152	NLRP3	LAMA3	ACTG1	COL11A2	CC2D2A	PSMD12	ZMIZ1	TMEM216	ALG12	TBC1D24	RAPSN	CDKL5	TMEM237	FANCI	CYP27A1	SEMA3E	GJA1	RPL5	TNRC6B	ACTG2	ABCA3	UFD1	DPAGT1	CTSC	EN1	CDKN1C	CENPE	TMEM70	GPX4	USP9X	LHX4	TFAP2B	COL3A1	CRIPT	KCNAB2	ERCC8	PPP1R15B	SF3B4	DMD	MYH3	NUP107	WASHC5	IHH	DSE	ACSL4	SOS1	ACTL6A	CNTN1	PIK3R2	BMP2	PSMB4	CPLANE1	SETD5	SMO	SETBP1	B9D1	PDE3A	MAP3K7	SHANK3	KLF13	NSUN2	RAB23	TGFB3	UBR1	MAPK1	NRAS	MED12	MUSK	HIVEP2	PIGG	PAFAH1B1	SNRPB	MASP1	HS2ST1	IGF1	RTL1	TBC1D2B	SRCAP	HSPG2	CPLX1	ESCO2	EFTUD2	ANKRD11	MEGF10	BPTF	B3GALT6	NEK9	PTH1R	PQBP1	SMARCAD1	KATNIP	PGAP3	PHGDH	CHST3	CNOT3	BIN1	KIFBP	TUBB	SATB2	KIAA1109	KIF7	DSP	BAZ1B	MEG3	ADH5	RFT1	TCTN3	ACTA1	ARX	PLK4	EDNRB	BBS10	LBR	TXNDC15	RMRP	MTM1	MYBPC1	SIN3A	GPR101	ROR2	JAG1	ATL3	UBE3B	DYNC2LI1	CLCF1	WDPCP	ERBB2	PDE6D	SCN9A	BBIP1	CCBE1	UBE3A	CHST14	MED12L	ARL3	ZNF292	ASXL3	UPF3B	FBN1	ATN1	RPS6KA3	JUP	TTC8	NFIX	ZMYM2	RPL31	SREBF1	COL2A1	TRAIP	GJA5	NSD1	RFWD3	ANKLE2	B3GLCT	WDR73	TSR2	SEMA3C	IQSEC2	CLIP2	GTF2IRD1	TMEM67	OTUD6B	CEP55	TRIO	GPC4	HCFC1	COG7	ADAMTSL2	PRKACB	CITED2	CDC6	TWIST2	BRAF	KANSL1	COL6A1	ABCC9	NKX2-5	EVC	GTF2I	SCN2A	NKX2-6	ARSL	ZNHIT3	PAX3	SACS	IFT27	LETM1	CANT1	MAN1B1	FIBP	FBN2	YY1	NHS	FTSJ1	OBSL1	COL6A2	COL5A2	SMAD3	PTCH2	NEK1	SFTPA2	SLC25A24	PACS2	TBCK	SMC1A	ARHGAP31	MAPK8IP3	MRAS	BUB1B	WDR4	ZEB2	L1CAM	NRTN	ARID1A	KIF1A	AP4M1	ABL1	MKRN3	RPS10	NPHP1	CCN6	ATRX	AUTS2	PIGV	PRDM16	CHD7	CEP120	ASPN	FANCL	MFAP5	MTOR	PIGN	POU1F1	DNAJC21	CWF19L1	NSD2	COL11A1	CCDC32	TBL1XR1	LRBA	RPGRIP1L	FGD1	PIGF	KIAA0825	RERE	SPIDR	SPEG	TRRAP	ALG13	RYR1	SIL1	SFTPC	CD55	SLC35A3	SLC25A46	PRKG1	SIM1	PRR12	KIF22	KIAA0753	DOK7	MYMK	HMGA2	BMP4	MACROH2A1	ATR	PGAP2	NCKAP1L	PIK3R1	FOXP1	FARSA	FRMPD4	SIK1	NONO	NOD2	GRM7	NR2F1	PCNT	MRPS28	DLL3	DLX3	NEB	BMPR1A	PAPPA2	RPS24	SMARCA2	LAGE3	SPOP	ECE1	MAF	KAT6B	LMX1B	SALL1	PIK3CD	NUP88	HHAT	CKAP2L	CFAP418	TRPS1	B4GALT7	ZNF462	ARL13B	PIEZO2	MUC5B	DYM	SKI	PIGO	TRPV4	DPP9	CHRNA1	BRCA2	DYNC2H1	PRKDC	NXN	CDT1	CEP57	AEBP1	GATAD2B	RSPO2	FGF9	MLXIPL	SUFU	MOGS	PLOD1	ARID2	NEUROD2	MCTP2	INPPL1	APC	ZNF41	PRKAR1A	PSMB8	TMEM231	VAC14	PUF60	BGN	PROP1	ALOX12B	BBS9	KMT2D	BBS2	SHH	SFTPA1	RBPJ	UBE4B	IL10	ARVCF	EVC2	SUZ12	CREBBP	NOTCH2	DLX5	HUWE1	IDH1	SLC12A6	CNKSR2	BBS1	TANC2	TP63	TBX3	SOX4	BCAS3	POR	SMARCC2	SAMD9	RPS20	SLC5A6	LFNG	RAC1	DHPS	MMP23B	GDAP1	NIN	KPTN	NSDHL	CLCN7	EIF2AK4	DACT1	NAA10	RPGRIP1	SHOX	TERT	COL12A1	LAS1L	RPL26	IFT57	GNAS	CHN1	IFT43	COL10A1	TRIM8	ADNP	ALX1	FGFRL1	CUL7	BBS12	CCNK	STAG1	BRIP1	PTHLH	FAT4	PUM1	AIFM1	INPP5E	PAX1	DPF2	SOX6	ATRIP	CBY1	BHLHA9	CPT2	NUP133	ZBTB20	STX1A	RAB33B	SCARF2	CCDC22	EFNB1	DNMT3A	RPL11	ERCC2	CHST11	SLC18A3	HINT1	SLC9A6	JMJD1C	MAFB	BCR	GTF2IRD2	MTX2	SYNE1	PIGH	CCDC8	BLM	PTPN11	GJB4	NKAP	LUZP1	HES7	TRMT10A	TBX15	DYNC2I2	TGFB2	COL5A1	PEX6	EZH2	ALX4	SHMT2	GABRD	TBX5	IFT80	PPP1R21	PRKG2	TMEM218	SLC25A22	EDA2R	ACOX1	JARID2	NTNG2	ITGB4	UNC80	EED	BRAT1	CCDC28B	NDN	STUB1	MSX2	MAT2A	MGAT2	HRAS	RIT1	SUMF1	GLI1	PHF21A	EIF4H	PIGW	GATA6	CTU2	TTC26	LIFR	MYLPF	SLC2A10	TWIST1	EBF3	RSPRY1	RPL10	GORAB	BICD2	COL1A2	CEP19	CRKL	FANCG	FRAS1	SC5D	DDX59	SMC3	TBX4	PTPN23	PNPLA6	DPYS	ERCC1	GJB6	CRPPA	NUP37	CYP26B1	COG4	COPB1	RPL27	FANCB	KNSTRN	KDM6A	WDFY3	COL6A3	ALMS1	ECEL1	DYNC2I1	MATN3	KCNA1	PSMC3IP	TELO2	PITX1	HYOU1	MEIS2	BCORL1	METTL27	NPAP1	DHCR7	MYH11	ALOXE3	TMCO1	PRG4	STN1	CENPJ	IDS	TRIM32	PRKD1	FERMT1	ATP6V1B2	NGLY1	ZNF141	COG8	KMT2E	RBBP8	BMP1	RIPPLY2	FKBP6	PIGB	BRD4	RAB18	SRP54	EDA	DOCK6	OTUD5	SNIP1	GLI2	KCNK9	TGDS	EPB41L1	GATA5	ANAPC1	WFS1	ZNF469	MSL3	TCF7L2	PHIP	GDF1	VPS37D	POC1A	SMAD4	RNF13	ERBB3	FAM13A	IARS2	SMAD2	IGF1R	PTDSS1	TCF4	PHF6	TFE3	EIF2AK3	GATA2	IL11RA	SNORD115-1	DLL4	TMEM138	MYLK	ANTXR2	IARS1	KLHL40	TUBB3	YWHAE	IFIH1	HEY2	XRCC2	KCNE5	ACVR1	SETD1A	MECP2	KCNJ11	ACP5	PORCN	SVBP	LRP4	EXOSC2	KCNJ2	OCRL	ORC1	YRDC	ORC4	AKT3	RIPK4	XRCC4	DONSON	CTCF	RAF1	AFF2	C12orf57	TBX22	RPS28	PRKCZ	CTDP1	MYH8	RPL35	IDUA	MESP2	PPP2R1A	NEXMIF	ADAMTSL1	EDN3	PACS1	HIRA	PALB2	ARL6	PIGQ	GJB3	PIGS	PARN	HERC1	PDPN	TP53RK	NOTCH1	CD244	TSPAN7	PDGFRB	SOS2	SEC24C	FSHR	SLC9A7	MRPS22	EXT2	TLL1	CDC45	ANKRD17	B9D2	APC2	ALG3	IL1RAPL1	G6PC3	SATB1	ABCA12	NUP85	ZNF423	KMT2A	RASGRP1	TRIP11	SLX4	MORC2	PSMB9	PCYT1A	PIGY	RET	PI4KA	SCAPER	MIR140	INPP5K	RRAS2	EIF2S3	CUL4B	NLRP1	TRAPPC2	PCGF2	KCNJ8	HERC2	TTN	SOX11	SLC35A2	WASF1	RELN	PTCHD1	RPS29	PEX1	RREB1	CBL	EXTL3	SH3PXD2B	RBM8A	OGT	DVL1	ORC6	WNT10B	COMT	EXOC6B	TRMT1	RAD51	AMMECR1	ACTB	NCF1	FBXO11	KDM1A	RPS23	TOR1A	NELFA	RPL18	AMER1	AHI1	SDCCAG8	MMP2	PEX5	GATA4	TPRKB	ATP13A2	DDR2	IFT74	SLC29A3	ARMC9	ATG7	DPYSL5	GNAO1	HOXA11	CHD1	PLAG1	CHD4	KDM5C	WAC	BNC1	TERC	KCNMA1	ARHGEF6	BCL7B	SMG9	NFKBIL1	NEPRO	TOPORS	GPKOW	MED25	IFITM5	GDNF	NARS1	SMARCE1	SBDS	KIAA0586	IFT52	NR5A1	CIITA	EHMT1	AKT1	MAP1B	TGFB1	TPM2	KLHL41	ASXL1	CNOT1	SLC12A2	RFC2	UBR7	DLG3	COL17A1	COL1A1	BICRA	SPRED2	SMPD4	IRX5	GRIA4	ADGRG6	ZFPM2	SON	LTBP2	RAB39B	REV3L	TCTN1	NFASC	CFTR	DMXL2	PTPN22	MADD	FLII	HNRNPH2	SLCO2A1	CASK	AGTR2	FKTN	WNT5A	ATAD1	ADA2	COG5	BUB1	FN1	SETD1B	RNF2	PTF1A	PEPD	NTNG1	CLIC2	EXOSC9	DLK1	H19	GP1BB	PAK3	SNORD116-1	NDE1	MBD5	EOGT	LMOD3	VPS35L	SOX9	CAPN3	EIF4A3	MED13	C2CD3	GDI1	SPECC1L	LIMK1	CNOT2	KCNK4	RPS17	RPS7	PIBF1	DLG4	CHRNA7	OPA3	KDR	USP7	CUL3	KAT6A	SH2B1	RPS27	ZNF699	RTEL1	INTU	LHX3	SETD2	PALS1	TRAPPC9	NPR3	POLR3A	SYP	KIF15	MIA3	XYLT2	EXT1	ZNF407	STK11	SLC34A2	SPRED1	ATP11A	GNB2	ABCC8	STAG2	BUB3	TBL2	YY1AP1	LARS1	PWAR1	AP1G1	SEMA3D	GJA8	RASA2	FANCM	CHUK	LOX	MECOM	TTC21B	PIK3CA	TMEM270	POLR3H	BBS4	ZC4H2	HTT	ATP7A	B3GAT3	MIR17HG	MID2	ACTA2	CASZ1	ADAMTS2	ERCC5	LMBRD2	HIC1	STEEP1	LZTR1	P4HTM	SLC22A4	SPART	MAP2K1	PPP2R3C	BANF1	IKBKG	PWRN1	FOXE3	TBR1	IPO8	ALG9	PIGP	TRAPPC4	CWC27
HP_BROAD_PALM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_PALM	GPC4	FGD1	TONSL	ADAMTS10	FHL1	B3GLCT	GPC3	COL2A1	ASXL1	IFT80	GATA1	PPP2R3C	IHH	BCOR	FGFR1	PTH1R	DYM	AIFM1	RPS6KA3	LBR	FBN1	TBL1XR1	SPECC1L	SLC35C1	RAI1	PRKAR1A	OFD1
HP_ABNORMAL_THUMB_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_THUMB_MORPHOLOGY	ELN	LMNB2	OFD1	NTNG2	ZMIZ1	ALDH18A1	EED	TRMT1	GATA1	RAD51	STUB1	RB1	MSX2	MGAT2	SALL4	GPC3	RBM8A	CDC42	GTF2I	SUMF1	FANCC	BCOR	ACTB	EZH2	NCF1	CHSY1	ROR2	DOCK3	KDM1A	FBN2	GLI1	MED27	EIF4H	TOR1A	NELFA	RUNX2	RPL18	TRIO	FANCF	UBE2T	SATB2	KATNB1	ERCC4	TTC26	GPC4	FANCD2	PAH	LIFR	PHGDH	BMPR1B	LETM1	FZD2	FIBP	MYLPF	DSE	B9D1	LMBR1	WDR4	BRIP1	TPRKB	TWIST1	FANCB	ZIC3	RAD51C	GNAS	RRAS2	MYCN	FGF10	PTEN	ACTL6B	CHD7	EMC10	FANCG	FANCL	DPYSL5	FRAS1	PTCH2	DVL3	HPGD	SLC26A2	SMC3	SEMA3E	CHST3	PTPN23	BHLHA9	TRIP12	RECQL4	GLI3	WIPI2	CPLX1	CRPPA	MAPK8IP3	KCNMA1	MAD2L2	ZEB2	L1CAM	FANCA	BCL7B	NRTN	ACAN	RPL27	SMC1A	BRCA1	KNSTRN	FBXW11	WDFY3	AP4M1	FGFR2	RPL35A	BPTF	RPS10	SMOC1	ECEL1	DYNC2I1	TCF20	RPS26	NIPBL	FLNA	GPKOW	MED12	MED25	RPS15A	GDNF	MEIS2	BCORL1	NXN	RLIM	METTL27	KCNN3	DHCR7	CWF19L1	NSD2	CREBBP	PTRH2	GDF5	COL6A2	FGFR1	CCDC32	FANCI	MYT1L	FIG4	ATP6V1B2	PKDCC	RPL15	TPM2	PIGF	NOG	LONP1	RAD21	PRKD1	COL2A1	KLHL41	ALG13	DHODH	SLC12A2	KCNH1	RFC2	UBR7	KMT2E	HOXA13	LIG4	NALCN	SMO	MEGF8	MGP	BICRA	FKBP6	PIGB	BRD4	SMPD4	GRIA4	BMP4	ADGRG6	HPDL	TNNT3	SNIP1	RPS19	SON	EPB41L1	LTBP2	CTBP1	BUD23	NONO	REV3L	FANCE	MSL3	DNAJC30	TCTN1	TFAP2A	TCF7L2	KIF7	PUS7	NEB	BMPR1A	SIAH1	RPS24	SYNCRIP	VPS37D	ECE1	PHF8	CRLF1	DVL1	ERBB3	ATAD1	EP300	TAPT1	PTCH1	ADA2	AGO2	SALL1	PIK3CD	TMEM107	PTH1R	NUP107	ADAMTS10	RNF2	TMEM67	ZNF462	NTNG1	CLIC2	MKS1	EXOSC9	PALB2	GJA5	ANKRD11	KLHL40	SPTBN1	CC2D2A	PSMD12	CNOT3	DLK1	ERCC1	FLNB	BRCA2	XRCC2	PLXND1	DYNC2H1	IHH	CPLANE1	ABCD1	KAT8	SETD1A	OTUD6B	WNT5A	PQBP1	ACVR1	SVBP	NDE1	LRP4	PYCR2	EXOSC2	WDR35	CANT1	RSPO2	FGF9	PIGG	LMOD3	MLXIPL	SUFU	HDAC8	VPS35L	RIPK4	ESCO2	TMEM216	KDM4B	INPPL1	MYH3	FBN1	TBC1D24	APC	EIF4A3	MED13	XYLT1	TCTN2	LIMK1	LAGE3	ACTG1	CLCN3	RPS17	RPS7	VAC14	SLX4	ALG12	SHH	RPS28	CSPP1	TMEM237	OPA3	RPL35	BMP2	TNNI2	RPL5	TNRC6B	SUZ12	CUL3	HOXD13	FGFR3	COL6A1	RPS27	CNOT1	ZNF699	TANC2	EDN3	INTU	OSGEP	PACS1	USP9X	DDX6	CRIPT	BCAS3	CEP290	MADD	RPS20	PALS1	HYLS1	TP63	COL6A3	ACTL6A	NPR3	RPGRIP1L	SETBP1	NSUN2	RAB23	DACT1	RPGRIP1	COL12A1	TBL2	RPL26	MAFB	CHN1	TMEM231	HS2ST1	ANKRD17	SEMA3D	GJA8	RTL1	RFWD3	FANCM	B9D2	ALG3	SRCAP	ADNP	B3GALT6	FGFRL1	G6PC3	EFTUD2	SATB1	TMEM270	NEK9	DYNC2I2	HTT	ATP7A	B3GAT3	TP53RK	MIR17HG	NUP133	STX1A	KIAA1109	BAZ1B	MEG3	ADH5	RFT1	PUF60	TCTN3	ACTA1	RPL11	RET	CHST11	EDNRB	TXNDC15	LMBRD2	MYBPC1	SLC9A6	GATA4	SIN3A	GTF2IRD2	PCGF2	ERBB2	SYNE1	SPART	PPP2R3C	CHST14	FBLN5	GJA1	NAA10	WASF1	RELN	ZC4H2	ZMYM2	RPL31	SREBF1	ALX4	SHMT2	MAP3K7	SF3B4	NSD1	ANKLE2	TBX5	DLX5	RPS29	HUWE1	B3GLCT	IFT80	WDR73	NEK1	TSR2	COG7	ALG9	SEMA3C	PRKG2	PCNT	CLIP2	EXTL3	TRAPPC4	GTF2IRD1	JARID2
HP_LARGE_HANDS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_HANDS	CAVIN1	MEN1	APC2	RPS6KA3	EED	FOS	NF1	KIT	PIGL	INSR	SETD2	BSCL2	PHF8	AIP	AGPAT2	SHANK3	EZH2	FIBP	POLR3A	CAV1	PEX6	KDM5C	NSD1	PEX1	PACS1	SDHB	HERC1	RNU4ATAC	SUZ12	PPARG	SDHC	ASNS	ABCC9	GPR101
HP_PREAXIAL_HAND_POLYDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREAXIAL_HAND_POLYDACTYLY	B9D2	PIGG	OFD1	CPLX1	FGFRL1	CEP290	GLI3	EFTUD2	PHF8	TMEM216	LETM1	HYLS1	SALL1	SMO	LMBR1	CTBP1	TMEM107	GJA1	TCTN2	GLI1	DYNC2I2	NELFA	TMEM67	TFAP2A	RPGRIP1L	DYNC2I1	MKS1	SHH	CC2D2A	BMP4	B9D1	CSPP1	FANCD2	TMEM237	DACT1	RPGRIP1	SALL4	IFT80	PUF60	NSD2	TCTN3	NEK1	DYNC2H1	CPLANE1	HOXD13	EXTL3	FGFR2	TXNDC15	TCTN1	MAFB	CHN1	ZNF699	TMEM231	WDR35	KIF7	BHLHA9
HP_ULNAR_CLAW	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ULNAR_CLAW	MPZ	PRX	HSPB1	PMP22	GDAP1	NEFL	MPV17	SBF2	EGR2
HP_HAND_OLIGODACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAND_OLIGODACTYLY	SMOC1	PORCN	CHD7	RECQL4	ESCO2	WNT7A	DLX5	WNT10B	SF3B4	SEMA3E	NIPBL	BHLHA9
HP_ADDUCTED_THUMB	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADDUCTED_THUMB	MYH3	RTL1	NALCN	ELN	LMOD3	MLXIPL	ALG3	TPM2	B3GALT6	ALDH18A1	TNNI2	STUB1	RBM8A	KLHL41	ALG13	TMEM270	GTF2I	NCF1	KCNH1	RFC2	NEK9	LIMK1	FBN2	LAGE3	EIF4H	TOR1A	ATP7A	SMO	KATNB1	PHGDH	TP53RK	NUP133	FKBP6	LIFR	STX1A	SMPD4	COL12A1	MYLPF	DSE	ADGRG6	WDR4	KIAA1109	TPRKB	TNNT3	BAZ1B	MEG3	RFT1	L1CAM	ACTA1	EPB41L1	NEB	RET	CHST11	CREBBP	BUD23	EDNRB	COL6A1	MYBPC1	MSL3	SLC9A6	DNAJC30	NUP107	EDN3	GTF2IRD2	OSGEP	PCGF2	ERBB2	SYNE1	VPS37D	CRPPA	CRLF1	ERBB3	ATAD1	EP300	TAPT1	ZEB2	BCL7B	NRTN	COL6A3	CHST14	FBLN5	FBN1	AP4M1	RELN	ECE1	ECEL1	EXOSC9	SREBF1	GPKOW	KLHL40	SHMT2	MED25	DLK1	ANKLE2	ERCC1	GDNF	WDR73	COG7	SEMA3C	METTL27	ABCD1	TBL2	CLIP2	COL6A2	GTF2IRD1	NDE1	SEMA3D
HP_TAPERED_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TAPERED_FINGER	MAF	SPEN	SUPT16H	EXOC6B	RPS6KA3	RPL10	KMT2E	CDKL5	CCNK	DYRK1A	AIP	CDC42	ASXL1	AMMECR1	INPPL1	VPS13B	FIG4	CNOT1	USP9X	PHF6	ZNHIT3	FBXO11	PUM1	RAB11B	KDM1A	KMT2A	PAX1	PHF21A	SMARCAD1	SLC25A46	RUNX2	LAS1L	TRIO	SIM1	EXOSC5	OFD1	VAC14	ZMIZ1	CPT2	PRR12	CNOT3	KIFBP	ODC1	PIGB	IRX5	SPOP	RUSC2	EBF3	SNIP1	RETREG1	SLC39A13	CHST14	ARX	EIF2S3	BCORL1	DLX5	HUWE1	SLC12A6	KDSR	ATRX	ADAMTSL1	NR2F1	GATA4	ABCC9	GPR101	KIF7	TNNT3	PHIP	GJA1	CHD4	HDAC8	KDM5C	SMC1A	KATNB1	WNK1	PCGF2	ECE1	SCN9A	UNC80	CRLF1	RNF13	ACSL4	KIF1A	GJB4	IARS2	KMT2C	GJB3	MYOD1	COPB1	TCF4	TRAPPC9	SMARCA2	DSE	SETD1B	DDX6	TFE3	TCF20	MYMK	GATA2	ZMYM2	TP53RK	BRF1	PIGV	TELO2	DOCK3	GNB2	DPYSL5	MAPRE2	PIGN	COL12A1	KCNE5	LMNB2	MAPK1	HIVEP2	OTUD6B	WASF1	EHMT1	MAGEL2	MAP1B	SVBP
HP_HYPEREXTENSIBILITY_OF_THE_FINGER_JOINTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPEREXTENSIBILITY_OF_THE_FINGER_JOINTS	PKDCC	PRR12	FGD1	COL5A1	PTDSS1	GORAB	LMX1B	KCNH1	OTUD6B	SMS	PIGG	HRAS	PLAA	RPS6KA3	IFITM5	GNB2	BRAF	ASAH1	COL1A2	NFASC	FBN1
HP_HAND_CLENCHING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAND_CLENCHING	GTPBP2	MOGS	GRIK2	NEB	SCYL2	CDK5	MAPT	KIAA1109	DST	KIDINS220	TPM2	WDR73	ATP6V1E1	SMG9	BICD2	L1CAM	MYOD1	CNTNAP1	KCNA1	ASXL3	SLC6A9	TOR1A	TBR1	BCOR	FLNB	GLE1
HP_ABNORMALITY_OF_THE_CARPAL_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CARPAL_BONES	CANT1	EXOC6B	MBTPS1	FGFR3	LONP1	FLNB	COMP	SALL4	EXTL3	ESCO2	PITX1	GPC3	COL2A1	NOG	LMBR1	APC	ABCC6	RECQL4	ROR2	DYM	GDF5	GNPTAB	PAX3	ALDH18A1	TRIP11	GPC4	CHST3	BGN	KIF22	XRCC2	XYLT1	MMP2	SETD2	BMPR1B	EXT1	MYH3	MACROH2A1	EXT2	RSPRY1	MAFB	PTH1R	DDR2	EVC2	TRPV4	SHOX	EBP	NOTCH2	GLI1	MAP3K7	FLNA	FGFR2	RMRP	IDH1	ENPP1	EVC	HOXD13	NIN	POR	IHH	MATN3	SLC10A7	NANS	HOXA13	B3GALT6	SLC35D1	TONSL	WNT7A	DYNC2LI1	CHSY1	EIF2AK3	SMOC1	SLC34A2	PIGV	BHLHA9	MMP14	TBX5	LEMD3	NXN	FBLN1	RBM8A	UFSP2	SHH	LRP4	ATP7A
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	MYH3	COL9A2	GDF5	BCR	TPM2	DHCR7	SLC26A2	TNNI2	NALCN	ZEB2	HOXA13	HRAS	PAX3	COL9A1	PEX1	FBN2	ASXL3	ALG9	SALL1	BMP2	COL9A3	FLNA	CD96	TBX22	LIFR	MAP3K7	MYMK	ADGRG6	HOXD13	DACT1	DPYSL5	TNNT3	MAPK1	SHOX	MAFB	EXOC6B	RAB3GAP1	MUSK	BMPR1B	RBM28	B3GALT6	TGDS	PIEZO2	RAB3GAP2	CRKL	LBR	PTRH2	CILK1	COMP	MYBPC1	WNT7A
HP_ABNORMALITIES_OF_PLACENTA_OR_UMBILICAL_CORD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITIES_OF_PLACENTA_OR_UMBILICAL_CORD	RTL1	MEI1	CFH	KIT	GATA6	SMARCAD1	NRAS	CDKN1C	MCTP2	TBC1D24	HSPG2	KCNQ1OT1	FOXF1	IGF2	GLB1	SERPINE1	ZMPSTE24	PIGW	QRICH1	SMARCD2	F13B	CORIN	CD46	PGAP3	HMGA2	SCARF2	HELLPAR	ADGRG6	FLT1	KHDC3L	PGAP2	CHEK2	MEG3	CFI	PACS1	PIGL	PLAGL1	LMNA	FANCB	HOXD13	NLRP7	POMP	ITGB2	ZNF699	PLAG1	PHGDH	CCDC22	GJA1	PIGO	POR	TAPT1	BCL10	FERMT1	FANCF	FCGR3B	DLK1	PIGV	WASHC5	C11orf80	SPTBN1	TP63	STOX1	MYD88	GJB2	DDX6	KCNQ1	CDKN2A	TP53	HYMAI	TTC37	F7	GNB2	PIGY	FGFR3	RAC2	LORICRIN	MKS1	MUSK	WNT3	MDM2	F13A1	GLE1	STK11	IGF1	WT1	ATP6V1B2
HP_SHORT_UMBILICAL_CORD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_UMBILICAL_CORD	ADGRG6	LMNA	PHGDH	MUSK	ZMPSTE24
HP_ABNORMALITY_OF_PRENATAL_DEVELOPMENT_OR_BIRTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_PRENATAL_DEVELOPMENT_OR_BIRTH	NOS1AP	MYO9A	AGRN	CTSA	CCDC40	TBCK	UQCRFS1	NDN	HYLS1	GATA6	MAT2A	RRAS	DPM2	CDKN1C	GPC3	F2	MYH11	RIT1	TBX5	KLHL41	FANCC	SNRPN	PEX3	HSPG2	VCP	SOS1	EIF4H	PIGW	GREB1L	MPZ	ERCC3	FANCF	ERCC4	TTC26	FANCD2	ATP8B1	C1QBP	ODC1	MYLPF	IGHMBP2	B9D1	HELLPAR	CLCN7	NODAL	WDR4	MYF6	CHRNG	OTX2	RSPH1	SLC5A7	EBF3	TRIP4	RAPSN	TBCD	MYCN	RPL10	PACS1	LBR	OFD1	BICD2	TGFBR2	ESCO2	STRADA	DEF6	HESX1	CRKL	SHPK	SPTA1	NDUFAF3	SLC6A9	PLAGL1	F8	SMC3	SEMA3E	ARV1	LRP5	HYMAI	SOX18	IRF6	NLRP3	MEG3	NDUFS8	CPLX1	CRPPA	EFEMP2	MAD2L2	NALCN	ATP1A2	RYR1	FANCA	PTCH1	CLCN3	PEX6	RPL27	IBA57	FANCB	SPTBN1	FGFR3	HRAS	RSPH9	DSP	DDX6	RPL35A	MMACHC	CALM3	SFTPB	NDUFB10	IL1RN	MAPT	DYNC2I1	RPS26	ITGB4	WNT4	PSAT1	LMOD3	PEX12	F5	UBA5	UROS	MAGEL2	ODAD3	KCNJ11	SCYL2	TARS1	FBLN5	PTCD3	RPS15A	RAC2	CD109	DNAJB13	GATA1	CALCRL	TIMMDC1	METTL27	MDM2	RNU4ATAC	FGB	NPAP1	DHCR7	GABRB2	NPC2	CREBBP	TRIP11	PIGN	CLCNKA	CEP57	NPHP3	TMCO1	GRN	DYRK1A	DISP1	NOS3	PEX16	XIST	FIG4	OCA2	PKHD1	ERGIC1	PBX1	ARNT2	SPEN	MPL	RPL15	ADAT3	DNM2	MYL9	LONP1	RTL1	ALDH7A1	RAD21	CHRM3	COX14	SLC12A1	DNAH5	COL2A1	NDUFAF4	ELN	ITGA2B	NR1H4	DNAAF11	TBX1	GBE1	SLC1A2	SPAG1	ODAD1	KRAS	KCNA2	FARSB	FGF20	AARS1	MYPN	FGG	ZMPSTE24	QRICH1	ERCC5	CORIN	ADAMTS3	MGP	SLC26A2	PEX26	NDUFS7	FKBP6	INVS	BRD4	FLT1	IL2RB	DOCK6	ACTL6B	OTUD5	CSGALNACT1	RAI1	CCDC65	B4GALT1	MYLK	NLRP7	COL13A1	BUD23	GMPPB	LMNA	FANCE	DNAJC30	GRIP1	GLI3	CHRND	LGI4	FLI1	CYP11A1	PEX14	FLVCR2	FAS	TSEN54	TTC7A	EMC10	CLTCL1	RHAG	ASCC1	VPS37D	SMAD4	DEAF1	GUSB	RHD	FXR1	RNF13	EP300	PSEN1	TAPT1	GABRA5	SMAD2	RPS19	GBA	HACD1	TMEM107	LDHA	OSGEP	GJB2	PDHA1	TMEM67	SNORD115-1	DLL4	WDR81	CNKSR2	MKS1	TP63	PARS2	TRIP13	ACTA1	IARS1	KLHL40	KDM3B	NECAP1	CLTC	LMOD1	SHH	YWHAE	YARS1	TAF1	PIGQ	ALG14	HEY2	XRCC2	HNRNPK	LIG4	NUP88	F13A1	WNT7A	WDR35	AGGF1	LARS2	BRCA1	ANXA5	MYOD1	PTPN11	MEI1	PIGG	NDUFB3	GAS1	ZMYND10	TPM2	DRC1	HDAC8	BSND	RIPK4	TGM1	PRKCD	KCNQ1	ASAH1	CTCF	RAF1	KIF20A	CALM1	FOXRED1	CTBP1	SMARCAL1	CNTNAP1	MBTPS2	TCTN2	TSHR	NSF	GLB1	HSPA9	CHRNE	NUP188	F13B	ATN1	KBTBD13	TALDO1	QRSL1	MTM1	PNPO	FGF13	ALG12	TBC1D24	RPS28	NEB	SLC16A2	CSPP1	TMEM237	GABRA2	RPL35	SLC25A20	LZTR1	NECTIN1	CFI	PIGL	PHACTR1	CERT1	RPL5	NEXMIF	MTMR14	NDUFAF2	ALPL	UFD1	SEC24D	PTRH2	ATP1A3	ITGA6	DYNC2I2	BRAF	PRRX1	ORC1	TMEM70	ABCC8	SYT2	VANGL1	MAGED2	RALGAPA1	SLC12A3	SLC25A26	HTR1A	HIRA	MCIDAS	CEP290	PALB2	MME	INPPL1	CHAT	COL1A2	CBL	HNF1A	PPARG	COL6A3	WASHC5	SERPINH1	HCN1	COL1A1	FANCG	F12	PIGS	FDXR	STOX1	CNTN1	ITGA8	RPGRIP1L	SLC25A46	KLF1	PLEC	NOTCH1	EPHB4	GGPS1	TMEM126B	COQ2	MYL2	F7	KCNJ5	TGFB3	COL3A1	MAPK1	ADA	ACTG2	NRAS	SOS2	SQSTM1	TMEM106B	MUSK	SEC24C	CDAN1	ERCC2	NDUFB11	TPM3	STK11	TRIM37	TRPV6	CACNA1C	WT1	TMEM231	DNAAF6	FBN1	MYH3	B9D2	PEX1	LIFR	SYNGAP1	SLC35D1	KIT	SOX2	REN	GATB	NDUFS3	ABCB4	PEX11B	ABCA12	NIPBL	RSPO2	DCLRE1C	MAP2K1	CELF2	USP7	VAMP1	MEGF10	B3GALT6	FOXF1	NEK9	CCDC39	CCNO	GRM7	TDGF1	NDUFS4	ASCL1	PEX5	PGAP3	FOXJ1	CRB2	SLX4	EXT2	SCN4B	CLN8	PAFAH1B1	SCN10A	COL12A1	DNAAF5	RPGR	PIGY	GATC	CHD7	KHDC3L	BAZ1B	RNF2	GABRG2	TCTN3	LHX1	EBP	RRAS2	UBE2A	POMP	TXNDC15	DNAI2	CRTAP	ENPP1	TRPV4	SIN3A	JAK2	ATP6V0A2	SELENON	CCDC22	PCGF2	SLC13A5	ERBB3	PLVAP	HERC2	UBE2T	CALM2	PRUNE1	RHCE	GJA1	FERMT1	TAOK1	DLK1	MRPS22	CCBE1	PEX2	C11orf80	GP1BB	SOX17	NDUFA11	ASXL3	ALG9	SLC35A2	JUP	HLCS	TP53	GPC4	RPL31	NEK10	NDUFV2	NDUFA6	TRAPPC12	TTC37	SF3B4	MED12	ITGA2	RFWD3	SON	RPS29	WDR62	B3GLCT	RPL11	MT-ND1	DHDDS	LORICRIN	WDR73	NEK1	TSR2	RREB1	IQSEC2	CLIP2	EXTL3	GTF2IRD1	UNC45B	RMRP	CEP55	IGF1	NUBPL	DALRD3	EPB41	SFTPC	HYDIN	FASLG	PKLR	IL7R	TGFBR1	COMT	TREM2	BIN1	ALX4	BNC2	CFH	RAD51	RAG2	KANSL1	MAMLD1	KIDINS220	PREPL	NDUFV1	GTF2I	NCF1	DNAAF2	KCNQ1OT1	SCN3A	CHMP2B	MT-ND3	PEX19	NTRK2	TOR1A	NELFA	RPL18	DZIP1L	SZT2	AGT	AMER1	MPLKIP	RAG1	SLC25A1	ALG1	LETM1	ODAD4	GALK1	COL11A2	LRRC56	GLE1	NDUFS6	TPRKB	CASP10	MTHFR	NDUFAF1	GTF2E2	ALB	KCNE2	NEU1	CLCNKB	FANCL	SMN1	COL5A2	YWHAG	ITGB2	NDUFS1	PAH	ERF	DNAH1	PLAG1	FOXE1	TSFM	PHGDH	SLC25A24	ITGA7	CA2	ABCC6	SMAD3	FUT8	ARHGAP31	OSTM1	EFNB1	CYP11B2	CYP11B1	MRAS	BUB1B	AKAP9	BCL7B	SMG9	CACNA1A	FGFR1	KCNB1	CFAP300	SLC3A1	CHUK	KIAA0586	NDUFS2	SYNJ1	TGFB2	IKZF1	MKRN3	RPS10	SIX3	MYH7	PMM2	FLT4	SCN5A	CDON	SLC26A3	FLNB	SLC17A5	GPKOW	POR	PPM1B	CTRC	DOK7	MAP3K20	PROKR2	SPINK1	DIS3L2	NSD2	ANK2	COL6A2	GRIN2D	SNRPB	FANCI	SMC1A	ATP6V1B2	COL5A1	ENG	DMPK	HADHB	CCDC174	POLR2A	KCNJ6	DNM1L	FGA	ASXL1	CNOT1	EEF1A2	RFC2	PIEZO1	SERPINE1	GYPC	SMARCD2	TRDN	PRKG1	ABCA3	CD46	SLC27A4	ZIC2	DNAAF4	CARS2	SPRED2	SMPD4	HMGA2	KCNJ1	ADGRG6	TGIF1	PGAP2	CHEK2	DUOX2	CPT1A	FARSA	PTH1R	IGF2	VPS13B	HNF1B	FOXH1	RASA1	COL6A1	RAD51C	KIF7	AGTR1	TCTN1	MCM10	LTBP3	NKX2-5	TRAIP	NFASC	ADARB1	CD96	COL11A1	MADD	CYFIP2	FLII	PTPN23	RPS24	UROD	GFPT1	ABCB11	REC114	CFL2	DNA2	KAT6B	PPP1CB	GAS2L2	DNM1	ADA2	WNT9B	NR3C2	COG5	BUB1	ODAD2	FUZ	EXOSC9	GLI2	CC2D2A	SATB1	ACE	AIMP1	CHRNA1	BRCA2	DYNC2H1	AFF2	NEK8	SNORD116-1	MCM4	PDSS2	AP3B2	CFAP221	AMMECR1	SNTA1	BTG4	GNPTAB	EOGT	MOGS	MLXIPL	NDUFA1	DONSON	NDUFB9	SOX9	PLOD1	NDUFAF5	SMARCAD1	ALG8	SNAP25	TMEM216	HBA1	MCTP2	PRPS1	TTC12	LIMK1	CAMKMT	OPA1	LAGE3	HADHA	RPS17	RPS7	CFAP298	VAC14	PUF60	HSD17B4	C9orf72	HBB	GAS8	SPOP	NUS1	DNAAF3	SERPINC1	SCN8A	WRN	ARVCF	KIF14	HOXD13	NDUFAF8	PAX7	MYL1	CDK19	KCNE1	DPAGT1	RPS27	SPEF2	NUP107	ZNF699	MFAP5	RET	MT-ND2	SARS2	FZD4	KIF5C	DNAI1	VANGL2	RSPH3	SHOC2	RPS20	HBA2	FCGR3B	PIGV	MYD88	ITGB3	MYMK	DHPS	GPC6	SOX3	ALPK3	ATAD3A	SPTB	GLDN	DNAAF1	H19	GTF2H5	MGAT2	SUFU	CACNA1B	GNB2	RPGRIP1	CAV3	BUB3	TBL2	ZFP57	PWAR1	WNT3	TRAF7	RASA2	WWOX	FANCM	LOX	FGFRL1	FGF8	THOC2	STK36	GPHN	IL2RG	TMEM270	BRIP1	DYNC2LI1	DNAL1	AQP2	FAT4	RASGRP1	PEX10	PEX13	STAT2	CPT2	PPP3CA	TP53RK	NUP133	ACTA2	STX1A	GP1BA	ATP6V1A	SLC9A3	SCARF2	RSPH4A	AVPR2	THPO	AHCY	SYCP3	TRAK1	DNAH9	RNF113A	SLC18A3	HS2ST1	ADAMTS2	USP9X	PADI6	MECOM	SYNE1	RPL26	HIC1	JMJD1C	MAFB	PLD1	BCR	GTF2IRD2	PLPBP	SLC25A19	UBA1	PIGO	BCL10	FGF12	CACNA1D	NPC1	CCDC103	SPINT2	SETD1A	PWRN1	MAP2K2	FOXE3	COQ7	BMPER	COX15	IPO8	CDKN2A	ZC4H2	POLR3A	HOXA13	PIGA	DPYSL5	KCNH2	IFT80	DLL1	CYP19A1	LEMD2	ZBTB42	EIF5A	DNAH11	RBPJ	NME8	MSX1	PHOX2B	NDP
HP_TRIPHALANGEAL_THUMB	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRIPHALANGEAL_THUMB	FANCM	LMBR1	RPL15	PIGF	RPS24	GATA1	RAD51	PALB2	MSX2	SALL4	UBE2T	RPL5	RPS20	ATP6V1B2	MAD2L2	SHH	GLI3	ADA2	FANCA	FANCC	SALL1	TBC1D24	BRIP1	RPS19	RPL27	FANCG	FGFR2	RPL35A	RPS10	RPL18	RPS17	RPS7	FANCF	RPS26	ERCC4	RPL31	SLX4	FANCD2	RPS28	PIGB	SF3B4	FGFR3	RFWD3	RPS15A	KIF7	TBX5	DLX5	DACT1	TWIST1	RPL35	RPS29	RPL11	FGF10	BRCA2	TSR2	XRCC2	TP63	KCNN3	FANCB	FANCL	RPL26	RAD51C	BRCA1	FANCE	MAFB	RPS27	FANCI	CHN1
HP_DISTAL_SYMPHALANGISM_OF_HANDS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_SYMPHALANGISM_OF_HANDS	IHH	NOG	TFAP2B	GDF5	BMPR1B
HP_ABNORMAL_FINGERTIP_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FINGERTIP_MORPHOLOGY	TGFB1	PKDCC	NTNG2	SRCAP	ZMIZ1	FCGR2A	TRMT1	KANSL1	KDM6A	SATB1	KDM4B	IL21	HSPG2	CTCF	SLC12A2	RAB3GAP2	PSMD12	SFTPC	MED13	DOCK3	TERT	PTH1R	NLRP3	LAMA3	CD55	RPS23	MED27	RASGRP1	JAG1	CLCN3	HTT	UBR7	KMT2E	PSMB8	PRR12	KMT2D	SFTPA1	GRIA4	HPDL	PTEN	DSP	NCKAP1L	FOXP1	ACTL6B	TNRC6B	ABCA3	MYT1L	EMC10	MUC5B	LMBRD2	DPYSL5	HPGD	RTEL1	TCF7L2	TANC2	CFTR	CHD1	SFTPA2	PUS7	PTPN23	BMPR1A	TRIP12	WAC	INTU	TBL1XR1	SVBP	DDX6	HNRNPH2	SYNCRIP	BCAS3	SLCO2A1	TERC	GJB6	MADD	MAPK8IP3	SLC5A6	KCNMA1	FAM13A	LAMC2	PALS1	AGO2	MED12	EMC1	TCF4	MED12L	ZMPSTE24	ZNF292	LAMB3	FBXW11	WDFY3	RNF2	WASF1	ACTL6A	BPTF	PARN	NTNG1	TCF20	EZH2	EP300	SPTBN1	ZNF407	STK11	SLC34A2	EIF2AK4	CNOT3	ATP11A	NAA10	HUWE1	ARID1B	PAK3	BCORL1	DPP9	RLIM	KAT8	SETD1A	CREBBP	BCOR	TRAPPC4	TLL1	CCDC32	MAP1B	LRBA	JARID2	HS2ST1	ANKRD17	STN1
HP_DELAYED_OSSIFICATION_OF_CARPAL_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_OSSIFICATION_OF_CARPAL_BONES	BGN	HOXA13	MBTPS1	PTH1R	TONSL	LONP1	RMRP	PIGV	EXTL3	UFSP2	IHH	MATN3	COL2A1	TRIP11	TRPV4
HP_CLUBBING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLUBBING	HYDIN	TGFB1	SCNN1G	FANCM	ENG	ZMYND10	PRKACB	DRC1	SFTPB	CCDC40	FCGR2A	KRT9	RAD51	POLA1	DNAH5	ABCA12	HPGD	SMARCAD1	STK36	CFTR	SMARCA2	SMAD4	IL21	IL6ST	DNAAF11	FANCC	BRIP1	HSPG2	DNAAF2	SPAG1	SFTPC	ODAD1	DNAL1	BMPR1A	TTC12	TERT	CCDC39	CCNO	HLA-DRB1	NLRP3	CD55	RASGRP1	JAG1	SCNN1A	ABCA3	PSMB8	ERCC3	FANCF	CFAP298	FOXJ1	ERCC4	SLX4	MPLKIP	FANCD2	KRT1	DNAAF4	VPS51	ODAD4	SFTPA1	DNAAF5	LRRC56	GAS8	RPGR	PIGL	RSPH4A	PTEN	DSP	NCKAP1L	RSPH1	DNAAF3	DNAH9	CCDC65	BTNL2	RNF113A	GTF2E2	OFD1	MARS1	KRT16	VPS33A	MUC5B	UBE2A	FANCL	RAD51C	FANCE	DNAI2	SPEF2	RTEL1	DNAH1	SFTPA2	FLNB	SLCO2A1	INTU	DNAI1	RSPH3	MCIDAS	PALB2	TERC	GJB6	UBE2T	SLC5A6	MAD2L2	FAM13A	GAS2L2	FANCA	CCDC103	CFAP300	FANCG	RSPH9	TCF4	ODAD2	PARN	CDC45	DNAAF1	NEK10	ODAD3	STK11	GTF2H5	SLC34A2	EIF2AK4	TARS1	KRT10	RFWD3	ATP11A	PTH1R	RHBDF2	DPP9	ACVRL1	BRCA2	DNAJB13	XRCC2	SCNN1B	DNAH11	ERCC2	NME8	FANCB	TLL1	BRCA1	FANCI	LRBA	CFAP221	DNAAF6	STN1
HP_AUTOAMPUTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AUTOAMPUTATION	NTRK1	RETREG1	KIF1A	TGM1	MPV17	SCN9A	KRT1	SPTLC1	GJB2	SPTLC2	ATL1	CCT5	NGF	SLURP1	RAB7A	WNK1
HP_ABNORMALITY_OF_THE_THENAR_EMINENCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_THENAR_EMINENCE	RPL31	RPL15	RPS28	RPS24	FGFR3	GATA1	RPS15A	SALL4	RPL35	RPS29	TBX5	FGF10	RPS20	TSR2	ADA2	RPL11	HOXA13	RPL5	RPS19	FBXW11	RPL27	RPL26	FGFR2	FGD4	RPS27	RPL35A	RPS10	RPL18	RPS17	RPS7	RPS26
HP_BROAD_METACARPALS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_METACARPALS	BGN	NPR2	FGFR1	EXTL3	GDF5	PDE4D	IHH	FBN1	GLB1	ADAMTS10	TFE3	MMP2	MMP14	SLC26A2	GNAS	DDR2	BMPR1B	DNMT3A
HP_ABNORMAL_FINGERNAIL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FINGERNAIL_MORPHOLOGY	EOGT	MLXIPL	DKC1	LRP4	ARID2	KRT9	EDAR	IFT122	TRPV3	AIP	EVC	GTF2I	TBC1D24	EZH2	NCF1	ROR2	CLEC7A	LIMK1	EIF4H	IGF2	COL11A2	POFUT1	TFAP2A	RUNX2	ERCC3	KRT6B	MPLKIP	KRT1	TBX3	MBTPS2	ZMPSTE24	KCNH1	KRT6A	SMARCA4	IL17RC	CTC1	EVC2	BMPR1B	GTF2E2	COL7A1	NECTIN1	SUZ12	GLI1	FGFR2	NOTCH2	IL17F	CTSC	LMNA	PSENEN	POGLUT1	HPGD	CDKN1C	BRAF	PLAG1	STAT3	FZD2	SOX4	EED	SMARCB1	ARHGAP31	CASR	EFNB1	CENPT	SMARCC2	NPM1	PKP1	BCL7B	WASHC5	TRAF6	ARID1A	DYNC2LI1	SHOC2	KCNN3	RTEL1	GDF5	SHOX	WNT10A	EDARADD	GNA11	SOX11	GTF2H5	NOTCH1	SMARCE1	KIF1A	TARS1	NSUN2	ARID1B	WDR35	PITX1	KCTD1	WDR19	PIGN	NXN	METTL27	SLCO2A1	CSTB	TBL2	ERCC2	COL11A1	NHP2	TRAF3IP2	DVL1	PARN	ATP6V1B2	IFT43	PIGF	SLC35D1	PLEC	ELN	USB1	KRT17	MAP2K1	TMEM270	IL17RA	MSX1	RFC2	DPF2	INPPL1	LIG4	FKBP6	ZBTB20	STX1A	SLC39A4	HMGA2	SOST	DVL3	MACROH2A1	SMARCD1	AIRE	DOCK6	TINF2	BAZ1B	RETREG1	RNF113A	PLCD1	KRAS	PLAGL1	KRT14	KDF1	BUD23	TERC	KRT16	LBR	DNAJC30	GPR101	HLA-B	GTF2IRD2	TET2	TP63	CCDC22	WNK1	NOP10	VPS37D	SCN9A	WNT5A	HRAS	PPP1CB	PTDSS1	IKBKG	GJA1	IFT52	SF3B1	MAP2K2	IL11RA	BMPER	DLL4	ZNF462	PEPD	PEX6	KRT74	COL17A1	HYMAI	LMX1B	PIGO	NSD1	WRAP53	PEX1	TERT	CLIP2	RBPJ	KRT5	AFF4	GTF2IRD1	RPS6KA3	ITGB4	PERP
HP_2_3_FINGER_SYNDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_2_3_FINGER_SYNDACTYLY	GPC4	SOST	WDPCP	FGFR3	LRP4	DSP	FGFR2	JUP	PITX1	GPC3	FGF10	FANCF
HP_SLENDER_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLENDER_FINGER	PIGG	YRDC	TGFB3	TGFBR1	COMT	POR	UNC80	BMP15	LOX	B3GALT6	PLOD1	SPIDR	STUB1	MAT2A	KANSL1	FGFR2	PIEZO2	ELN	TBX1	POLR3H	MAPK8IP3	PQBP1	FBN2	SOX6	PYCR2	NELFA	PRKG1	AMER1	SATB2	BMP1	EFTUD2	BICRA	CTSC	LETM1	ACTA2	COL2A1	COL12A1	SCARF2	DSE	SLC2A10	DLG4	CHRNG	FARSA	NSD2	SON	VPS13B	CHST14	ARVCF	TGFBR2	FGFR3	CBS	MIR140	CTBP1	ACTG2	USP9X	FLNA	UFD1	SH2B1	CRKL	ZNF469	COL6A1	FBN1	MTM1	SMAD3	DPAGT1	SLC9A6	COL11A1	SIN3A	MFAP5	JMJD1C	UBE3B	BCR	PTCH1	PACS1	PAPPA2	NALCN	HNRNPH2	B4GALT7	COL3A1	HIRA	BNC1	SUFU	LAGE3	PPP1R15B	SMAD4	CPLX1	EFEMP2	PHF8	ZEB2	NKAP	LFNG	WDR73	CYP26B1	COL6A3	SKI	NUP107	SMAD2	TRMT10A	OSGEP	ASXL3	KIF22	TGFB2	FOXE3	NPR3	CNTN1	ABL1	IPO8	PEPD	MED12	MYLK	HERC1	BPTF	PSMC3IP	PTCH2	ZDHHC9	ATRX	FBLN5	SMS	GNB2	HYOU1	NARS1	SMARCE1	MAPK1	PRDM5	ALG14	C1R	HEY2	UPF3B	SEC24C	FSHR	RREB1	NPR2	NR5A1	OTUD6B	GP1BB	MYH11	MRPS22	COL6A2	AEBP1
HP_WRIST_FLEXION_CONTRACTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WRIST_FLEXION_CONTRACTURE	ERGIC1	MYH3	COL12A1	MMP2	MECP2	ANO5	ASXL1	MEG3	MAP3K7	RTL1	ERLIN2	MYLPF	CADM3	CAPN3	TUBB3	COL6A1	ESCO2	DDR2	HSPG2	DLK1	B3GALT6	FLNA	COL6A2	TBX15	FBN2	COL6A3	PRG4	DHX16	ADAMTSL2
HP_CAPITATE_HAMATE_FUSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAPITATE_HAMATE_FUSION	EVC	EVC2	DYNC2LI1	GLI1	FLNA	FGFR3	ATP7A	FLNB
HP_SMALL_THENAR_EMINENCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_THENAR_EMINENCE	HOXA13	SALL4	FGFR2	FGD4	TBX5	FBXW11	FGF10	FGFR3
HP_LETHARGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LETHARGY	NDE1	NDUFB3	NDUFA1	PTCH1	ACADSB	YY1	NDUFB9	BNC2	ABAT	ASL	TRHR	ABCD4	NDUFAF5	CDKN2B	GATA1	SLC2A1	KCNJ11	PDHA1	SHH	RRM2B	TSHB	NDUFV1	SIX3	MT-CYB	BOLA3	SLC5A5	MMADHC	TGIF1	FOXRED1	SLC19A3	STAG2	MT-ND3	RYR1	BCKDHA	HADHA	GABRB2	ABCC8	CDKN1A	RPL18	RPS17	RPS7	NDUFS7	MTHFR	PROP1	COX5A	RPS28	HADHB	UCP2	TWNK	FBP1	ALDOB	NDUFS6	CDON	RPL35	HJV	SLC25A20	FOXH1	DLL1	MEN1	ATP13A2	FGF8	FGFR1	ZIC2	DLD	NDUFAF1	RPL5	GLI2	NDUFAF2	NDUFAF8	KRT8	GALT	POLG	ACADVL	NDUFAF3	MCCC2	NDUFS1	TG	RPS27	ACADS	TDGF1	MT-ND2	EIF2B2	DPYS	PAX8	NAA10	LHX4	DBT	LHX3	GAS1	NDUFS8	IVD	CPT1A	RPS20	HNF1A	SLC4A1	STIL	MCCC1	SMC1A	RPL27	CA5A	LYRM7	ASPA	NDUFS2	DDC	IYD	RPL35A	MMACHC	MTRR	RPS10	NDUFB10	ACADM	RPS26	RMND1	SLC25A4	NODAL	TH	BTD	NAXD	POLG2	TBK1	AMT	TMEM126B	SLC19A2	BCKDHB	TSPOAP1	RPS15A	SLC25A22	OTC	DUOXA2	POU1F1	DISP1	TIMMDC1	ASS1	HMGCL	GLDC	HADH	PIGA	GCSH	TLR3	EIF2B1	EIF2B4	SLC22A5	MT-TT	RPL15	DPYD	NDUFS3	GK	NDUFAF4	NDUFB11	LMBRD1	NAGS	NDUFS4	EIF2B5	CPT2	PRDX1	CYP24A1	SLC25A13	KRT18	SIM1	GYS2	TSHR	SLC25A15	PCCB	CDKN1B	DUOX2	RPL11	USP18	ATP5MK	GCH1	NFS1	RPL26	SLC25A19	SIK1	TCN2	SLC39A4	MMUT	RPS24	HLCS	HESX1	PCCA	MMAA	SLC1A2	ADA2	RPS19	TPO	MRPS16	NDUFA11	HAMP	MMAB	RPL31	HFE	NDUFV2	NFU1	NDUFA6	NBAS	RPS29	MT-ND1	TSR2	EIF2B3	ATP5F1D	CDKN2C	SLC7A7	HNF4A	MAGEL2	SUGCT	CPS1	NUBPL	AVP
HP_INTELLECTUAL_DISABILITY_MILD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTELLECTUAL_DISABILITY_MILD	SETBP1	NTNG2	COMT	MECP2	SLC25A4	DCPS	SELENOI	ZMIZ1	CACNA1I	ALX4	SHH	NCDN	DAG1	FLCN	TRMT1	SKIV2L	KANSL1	ABCC9	FREM1	CDH15	SNRPN	NFE2L2	ABCA2	EYA1	DOCK3	DCAF17	YY1	WDR48	MED27	SOX3	ACAT1	DNAL4	TRIO	AMER1	ALG1	RPS6KA3	BIN1	MSTO1	CHRNA2	MT-TL2	MT-TN	GNPTG	PRMT7	ERBB4	RSPRY1	DCC	GMPPB	MT-ATP6	MYT1L	MLC1	ACOX2	CACNG2	ATP13A2	ACTL6B	KCNT1	NGF	GALT	EMC10	CSTB	POLR3B	DPYSL5	C12orf4	CC2D1A	PTPN23	TRIP12	WAC	PTPN11	NTN1	CAMK2B	SBDS	GLI3	FMN2	SIN3B	MAPK8IP3	KCNMA1	ZMYND11	NTNG1	PHF8	TRPM3	DLL1	ASH1L	AFG3L2	FIBP	FBXW11	WDFY3	RUBCN	BPTF	TFAP2B	HNMT	TCF20	CHAMP1	TTC37	DEAF1	TH	MAGEL2	FLNA	SMC1A	HDAC6	SMS	POGZ	TSPOAP1	TAC3	JAG1	RAB3GAP2	GBA2	GTPBP3	CTNNB1	TUSC3	BCORL1	RLIM	LMAN2L	POU3F4	SUFU	MARS2	BRF1	TAF13	FZD4	MT-TL1	NSUN2	PEX11B	HMGCL	CCDC32	ZNF408	SLC25A24	IGF2	OCA2	CAMTA1	GRIN1	SLC35A3	SLC2A1	POMGNT1	PNPLA6	CLIP1	PRICKLE2	LEMD3	SPEG	RYR1	TBX1	SLC12A2	ACTB	WASHC4	PGAP1	CAMK2A	NDN	SMARCA2	UBR7	KMT2E	LRP5	PNPLA2	FGFR2	MGP	PPP3CA	GRIA4	HPDL	SET	NAA20	STAC3	GPAA1	CABP4	FOXP1	PIK3CA	TECR	FBXO31	MTRFR	POMK	LTBP2	POLA1	AP3B1	PRPS1	CDKL5	ATP2A2	ANO10	DYNC1H1	PEX10	ANK3	DMD	FGF14	ATP6AP1	TCF7L2	SCYL1	KDM5B	PUS7	AASS	MARS1	BMPR1A	DNMT3A	SETD1B	PRSS12	VPS13D	SYNCRIP	TSPAN12	PTEN	RAI1	AGL	RCBTB1	KIF11	MEG3	RARS1	AGO2	HPRT1	METTL23	ST3GAL3	COG5	ADAMTS10	CLTC	DNAJC21	RAB11A	RNF2	ZNF462	SLC29A3	EDC3	MED23	CSNK2B	NTRK1	SPTBN1	PSMD12	EP300	CNOT3	DNAJC3	NF1	ATL1	ITPR1	GABBR2	KAT8	KCNQ1OT1	CEP57	SETD1A	SRPX2	CDK6	GP1BB	NAGA	PYCR1	PRRT2	ACVR1	SARDH	NFIX	BCOR	EXOSC2	APC	HPD	SRY	AKT1	MED25	DONSON	KDM4B	PIGC	TKT	BRAF	ZC3H14	NLGN4X	FBN1	KIF1A	HEPACAM	MED13	CA8	TBC1D24	DLAT	H19	CLCN3	TFAP2A	PSMB8	GNE	HMGA2	NUP62	TRAPPC9	FGD1	SARS1	MAN1B1	THG1L	SLC16A2	CTDP1	CHRNA7	HCN4	GDI1	ARVCF	TNRC6B	CUL3	UFD1	GORAB	PGAP2	RNU4ATAC	RAD51	BRWD3	NSD1	TANC2	IQSEC1	NONO	DDX6	PLP1	HIRA	MED12L	BCAS3	SETD2	BSCL2	MADD	MBD5	PITRM1	ALAD	CIC	FRRS1L	PALS1	COG1	NBEA	CUX1	KIRREL3	INPP5E	SDCCAG8	ACTL6A	MBOAT7	UBE3A	TCF4	SRP54	MIA3	NKX2-1	UPF3B	MAP3K7	POLR3A	CRBN	KLF13	GRM7	TTC5	EPB41L1	RAF1	LINS1	SEC24C	UBE4A	NSDHL	EZR	TRIM37	MAN2B1	MASP1	DYM	HS2ST1	ANKRD17	GLB1	APC2	ARX	RSRC1	TBC1D2B	SRCAP	TNIK	FAT4	SATB1	DYRK1A	DPYD	PQBP1	RTL1	PCNA	VPS16	ZC4H2	ACP5	HIVEP2	HTT	MTHFD1	CRH	UFSP2	RNF135	EXT2	DNAJC12	PAFAH1B1	POMT2	NDST1	SIN3A	GRIN2B	EEF1A2	SFXN4	FMR1	ADAR	POMT1	L1CAM	PCDH19	KCNC3	DEPDC5	ERMARD	MECOM	LMBRD2	HINT1	ERCC8	ARID1B	GATA4	ZFR	CHRNA4	JMJD1C	SPTBN2	SLC45A1	FKRP	B3GALNT2	DARS1	SVBP	NDP	GRIK2	BLM	SH2B1	RTN4IP1	ERCC4	KCNJ8	MSMO1	KIF1C	TTN	KCNQ5	CRADD	SOX11	CLCN4	ALKBH8	SPG11	AIMP1	C12orf57	DOCK8	WASF1	B4GALNT1	SYN1	CPLX1	ZMYM2	CHRNB2	GPSM2	JAG2	CARS1	ERCC6	THOC2	BRSK2	HUWE1	GRIA3	SYNGAP1	TAOK1	RREB1	PIEZO2	DLK1	TRAPPC4	NEMF	AP1G1	IGF1	PDSS1	NARS2	JARID2	SPART
HP_SPASTICITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTICITY	RERE	KCNQ2	NDE1	UNC80	TARDBP	MECP2	DCPS	ARG1	CNPY3	CACNA1I	NALCN	NCDN	RTTN	ARX	SLC2A1	STUB1	MACF1	EXOSC3	ABCD1	OPA3	CKAP2L	FAR1	NT5C2	TAF2	SUMF1	L2HGDH	ENTPD1	PLA2G6	TGIF1	PNP	RAB11B	ATXN1	EIF4H	CYP27A1	MICOS13	ERCC3	EXOSC5	NDUFA10	MTHFR	MORC2	SUCLA2	TTC26	CCDC88C	GTPBP2	ODC1	PHGDH	TPI1	CTSD	ISCA2	TECPR2	POLR3A	REEP2	CDON	ERBB4	ERCC5	MT-ATP6	MYT1L	TBCD	FGFR1	ALS2	CASK	SPG7	C19orf12	CHP1	COG2	GBA	NIPA1	SLC18A2	ARNT2	PCLO	PLP1	SERAC1	PEX5	CNTNAP2	ATP7A	CTNNA2	GLYCTK	IFIH1	RNU7-1	CC2D1A	ARV1	CLP1	PSAP	TIMM50	MED25	KATNB1	GLRX5	SNX14	ERLIN2	TPRKB	SOX2	FMN2	DNMT1	POU3F3	CYB5R3	ATP6V1A	ATP1A2	RTN2	DNAJC6	ALG3	STIL	GALC	COPB1	FRRS1L	PET100	IBA57	SIX3	SPTBN1	ASPA	KARS1	AP4E1	NOTCH3	TBK1	RAB3GAP1	TCF20	FUS	RNASEH2B	GJC2	TUBB4A	CHAMP1	PTCH1	SPG21	FUCA1	MRE11	COPB2	UBA5	DEAF1	SLC39A14	KCNA1	PEX3	ZIC2	DCTN1	RNASEH2C	MTHFS	SCYL2	TARS1	POLA1	TELO2	ATXN3	REPS1	GABRA5	GLB1	RAB3GAP2	DEGS1	TSEN54	GBA2	TUSC3	DISP1	MARS2	METTL27	TRAPPC4	ALDH18A1	GABRB2	NPC2	BCOR	MTPAP	STAMBP	NSUN2	NKX6-2	VAMP1	TCTN2	LRRK2	MATR3	DHDDS	MT-ND1	GRIN1	VWA3B	PDHX	DYNC1I2	PRKN	ADAT3	GABRA2	PLAA	NDUFV2	AUH	GCH1	PNPLA6	PEX11B	TMX2	NDUFA13	ADAR	NDUFA4	ATXN7	VPS4A	ELN	SLC1A2	LIPT2	MAN2B1	FLRT1	LIPT1	KCNA2	AARS1	VPS13C	NUP214	SNORD118	POLG	ATAD3A	ARSA	DDHD1	PPP3CA	ATAD1	NDUFAF2	FKBP6	CLPB	FGF8	SYNJ1	CSF1R	PON3	RAB18	KIF1A	SET	RUSC2	SPATA5	ACTL6B	MT-TK	PDCD1	ROGDI	MTRFR	SLC33A1	PAX3	ERLIN1	GAS1	SCN2A	PEX6	ZFYVE26	GOT2	CDKL5	BUD23	PCDH12	NDUFA12	ANK3	MSL3	DNAJC30	PNKP	DLL1	SPATA5L1	MFF	SETD1B	BCL11B	SIL1	GFM1	CNP	TUBA1A	HSPD1	SCN1B	VPS37D	AASS	SLC16A2	PEX14	TUBGCP2	CRLF1	RNF13	RARS1	C9orf72	UCHL1	PTS	HPRT1	NEFL	LYST	L1CAM	ST3GAL3	B4GALNT1	SIGMAR1	OSGEP	ERCC8	MED27	RAB11A	SPAST	TNR	DSTYK	ANXA11	XPA	PIGU	MT-ND6	DYNC1H1	KIF11	PAFAH1B1	CCNF	B4GAT1	CNKSR2	MED23	PARS2	PGAP1	IARS1	PEX13	ADGRG1	NECAP1	PSAT1	ANG	CLTC	ERCC6	TFG	ECHS1	AP4M1	TAF1	ATL1	CLCN4	HPDL	SLC30A10	GABBR2	VAPB	CACNA1G	RNASEH2A	RPS6KA3	SLC19A3	COX15	ACP5	UBQLN2	SVBP	PYCR2	POLR3GL	APC	UFM1	YIF1B	PEX1	BCAS3	TRIT1	NOVA2	HTRA1	WASHC5	ASAH1	SLC6A5	CYP7B1	SCO2	AIFM1	TRAK1	STAG2	PINK1	SDHA	OSTM1	NUP62	BICD2	KIF1C	TRAPPC9	GM2A	PEX7	PIGN	DDX3X	POLR1C	HIKESHI	WARS2	NEFH	CHMP2B	UGP2	FIG4	IDUA	AP4B1	GPAA1	KPNA3	SOD1	GLRB	PHACTR1	NEXMIF	GLI2	SMPD1	ELP2	EDNRB	ATP1A3	EML1	MCCC2	HMGCL	TACO1	EIF2B2	LINGO1	PFN1	ATXN2	AP5Z1	SDHAF1	RALGAPA1	UBE4A	INPP5K	SLC1A4	PPP1R15B	SPTAN1	IREB2	PIGQ	WASHC4	MAG	CIC	TSEN15	MFN2	HCN1	NBEA	FDXR	SELENOI	PRDM8	MTFMT	PRNP	GAN	VPS11	RETREG1	SETBP1	EPHA4	SHH	TDGF1	TP53RK	DDHD2	NDUFB8	REEP1	MAPT	LINS1	BSCL2	ZNF592	ERCC4	NDUFA6	ERCC2	TTC19	SOX10	EZR	PQBP1	XPC	GRIA4	SLC12A2	NODAL	CFAP410	MT-TF	AFF3	TGFB1	RSRC1	GAD1	SYNGAP1	HSD17B4	VCP	PRPH	GSX2	SETX	MED17	AMACR	DDB2	TAF15	CELF2	APC2	NTRK2	HSD17B10	COA8	SDHB	KCNT1	PEX12	KLC2	MYO5A	OCLN	UBAP1	UGDH	AMPD2	CLN8	KMT2B	STXBP1	GSS	HEPACAM	BAZ1B	ATM	RFT1	WDR45B	GABRG2	NEU1	EPRS1	HNRNPA1	DCX	AP4S1	PON2	ABCC8	SLC25A12	TXN2	PANK2	MT-TV	ALDH3A2	ATP13A2	SLC45A1	KRAS	B3GALNT2	BTD	MED13L	KDM5B	PNPLA8	GRIK2	HTRA2	SCYL1	TRAPPC12	PRUNE1	KCNQ5	CRADD	OPA1	DENND5A	MRPS22	PEX10	RPIA	HACE1	WDR45	MT-ND4	ALKBH8	SPG11	SLC35A2	FGF13	TANGO2	MOCS2	KCNA4	SEC31A	ADSL	ABHD12	PEX16	PEX26	COL4A2	NDUFA8	SLC25A15	ALG11	WDR73	FUZ	MAN1B1	ARF1	FOXG1	SYNE1	GFAP	NSD1	SON	ANKLE2	EARS2	BRSK2	WDR62	NDUFS1	UNC13A	GRIA3	MT-ND5	NDUFAF5	TAOK1	SLC25A22	EIF2B3	TOE1	ATP6AP2	CLIP2	MOCS1	CYB5A	HLA-DQB1	EXTL3	ARSI	GTF2IRD1	RAB27A	OTUD6B	ATXN10	RAD50	RNU4ATAC	SPART	DALRD3	SACS	CLIC2	DPM1	DNM1L	KCNJ6	FRMPD4	PARK7	MT-ND3	KIDINS220	CDH15	FXN	GTF2I	EZH2	NCF1	GPT2	MRPS34	LMNB1	SCN3A	MAPK8IP3	WDR48	ACAT1	SZT2	SATB2	NHLRC1	MPLKIP	LAMB1	NDUFS2	LIAS	MCCC1	RANBP2	FOXRED1	FOXH1	SURF1	MLC1	CACNG2	GTF2E2	MT-TP	MT-TI	EIF2S3	ARL6IP1	JAM3	NADK2	KY	FA2H	POLR3B	NACC1	YWHAG	C12orf4	GNAO1	FDX2	KDM5C	SMC1A	EED	CAMK2B	EIF2AK2	SPTBN2	DLD	TUBG1	SNCA	ZNF335	ZMYND11	NTNG1	ZEB2	IRF2BPL	DARS2	BCL7B	GCDH	NDUFS4	CACNA1A	TRPM3	KCNB1	ASH1L	AFG3L2	LYRM7	CCT5	HNMT	GJA1	PODXL	AUTS2	NAGA	TRMT5	VPS53	FBLN1	LMAN2L	CYP2U1	MT-TW	NDUFAF3	GRIN2B	GRIN2D	NDUFS8	IKBKG	EIF2B1	EIF2B4	SAMHD1	FBXO7	HEXB	SPTLC1	GFM2	CLIP1	PRICKLE2	AP1G1	PON1	EEF1A2	RFC2	SLC17A5	CAMK2A	WWOX	TMTC3	NDUFA9	SATB1	EIF2B5	ISCA1	PPT1	CPT1C	CDC40	NAA20	NTNG2	FOXP1	TIMM8A	COQ5	TECR	FBXO31	ADD3	SIK1	CNTNAP1	EXOSC8	TBC1D20	ITM2B	NEK1	PI4KA	LRPPRC	ATRX	GRM7	GBE1	NR2F1	GLRA1	ADARB1	APOE	DMXL2	MARS1	PPARGC1A	PRSS12	CYFIP2	PTPN23	CHCHD10	VPS13D	COL4A1	PMPCA	VPS41	LAGE3	POMGNT1	CAPN1	SLC13A5	COASY	GRIA2	DNM1	PLCB1	METTL23	DHCR24	NDUFS7	PDHA1	GJB1	EDC3	EXOSC9	CSNK2B	TMEM222	PEX19	KIF2A	FLNA	PPIL1	RLIM	NDUFA2	TUFM	RNASET2	CACNA1D	AIMP1	ATP6V0A2	ELOVL4	SDHD	FTL	BCS1L	PRRT2	AP3B2	CACNA1E	C2orf69	GATAD2B	CIT	MLXIPL	MRM2	TMEM67	NDUFAF4	ADAM22	NEUROD2	PIGC	USP8	SEPSECS	CNOT1	SRPX2	TREM2	ZC3H14	FARS2	TSEN2	PRPS1	BOLA3	GRM1	RARS2	TYROBP	GDAP2	LIMK1	OPTN	BEAN1	MECR	TMEM231	INTS8	SARS1	NUS1	GLE1	SIX6	STN1	LMX1B	SCN8A	KIF5A	SUZ12	MT-TL1	TBCE	HUWE1	NDUFV1	CDK19	MINPP1	UBTF	CTNNB1	AP1S2	ERCC1	WDR26	IQSEC1	CHMP1A	MCOLN1	KIF5C	CARS2	METTL5	MED12L	ATXN8OS	TSEN34	MBD5	SLC5A6	EPM2A	SCN4A	CUX1	KIRREL3	TUBB3	CTC1	GPHN	DHPS	MBOAT7	TBC1D23	TCF4	NUBPL	TDP1	AGA	GTF2H5	PEX2	CRBN	PMPCB	VPS37A	ACP2	CACNA1B	TTC5	EPB41L1	DAO	PCYT2	NAA10	TBL2	ACER3	DYM	ASNS	SPR	EXOC2	TRIM8	TNIK	NDUFAF6	THOC2	HTT	NDUFS3	ZFYVE27	TMEM270	EXOC8	PUM1	HIVEP2	CLN5	CLCN3	GLT8D1	UFSP2	STX1A	ATP2B3	NDST1	SLC25A10	OPHN1	PSEN1	RNF113A	AARS2	COLGALT1	ZFR	UFC1	COX8A	GTF2IRD2	DARS1	HLA-DRB1	MT-ND2	MFSD2A	SLC6A8	FGF12	ATP6V1E1	NPC1	GUF1	TRMT10A	DOCK8	AGTPBP1	ZC4H2	TTR	PIGA	SHMT2	SOX4	TPK1	TREX1	SQSTM1	ALG9	PIGP	KANK1	WDR4	NDUFC2	MTO1	NEMF	DNAJC19	TBP	NARS2
HP_SPASTIC_PARAPLEGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTIC_PARAPLEGIA	KIF1A	VAMP1	UBAP1	PNPLA6	MECP2	PDHX	SELENOI	ALS2	OPA1	ALDH18A1	NDUFAF6	PI4KA	ERLIN2	NDUFV2	NDUFA13	IBA57	SLC2A1	ABCD1	GBA	PLP1	DNM1L	SETX	NDUFA4	FA2H	WASHC5	AP4B1	NT5C2	CYP2U1	USP8	DDHD2	KIDINS220	NDUFS3	ZFYVE27	FARS2	ENTPD1	GPT2	CYP7B1	FLRT1	AIFM1	SDHA	NDUFA9	WDR48	KLC2	PAX3	NDUFAF5	INTS8	NDUFA10	LAMB1	KDM5C	NDUFAF2	NDUFS2	CPT1C	TECPR2	STXBP1	LIPT1	TOE1	FOXRED1	CCT5	SURF1	MTFMT	WDR45B	L1CAM	MTRFR	SLC33A1	KPNA3	HSPD1	SPG7	KIF5A	ATP13A2	MAN2B1	ZFYVE26	ARL6IP1	AP4S1	HPDL	NIPA1	KY	NDUFA12	AP5Z1	NDUFV1	VCP	GBA2	DSTYK	TACO1	ZFR	MARS1	GJC2	C19orf12	CAPN1	SLC16A2	ATRX	MAG	CACNA1D	RTN2	NDUFS4	UCHL1	GBE1	HACE1	LYST	SPG11	PET100	AP4E1	TFG	NDUFS7	B4GALNT1	AP4M1	SPG21	PDHA1	RNASEH2B	GAN	SLC25A15	PGAP1	PEX3	AMPD2	REEP1	VPS37A	NDUFA2	RAB3GAP2	NDUFS1	ECHS1	ATL1	BSCL2	MT-ATP6	ARSI	SLC19A3	COX15	REEP2	SPAST	SPART	DDHD1	NDUFS8
HP_COMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMA	AUH	SLC22A5	NAXE	CACNA1A	YY1	ACADM	HADH	ASL	CDKN2B	POLR3K	KCNJ11	PDX1	HMBS	STAT3	GK	TXNRD2	ETFDH	INS	TICAM1	KYNU	CFHR1	NAGS	FBP1	RANBP2	SQOR	SLC19A3	SLC25A13	BCKDHA	HADHA	STAR	APP	POLG	ABCC8	CDKN1A	ACAT1	CPT2	GCK	HADHB	UCP2	NDUFS4	SLC25A15	PCCB	ALDOB	CDKN1B	SLC25A20	NFKB2	CPT1A	MEN1	TRAF3	ETFB	PRF1	MRAP	MCCC2	HMGCL	ATP1A2	CFHR3	STX11	GLUD1	MMUT	DBT	HLCS	UNC93B1	IVD	PCCA	CTNNB1	MMAA	BRAF	NNT	HNF1A	MCCC1	MMAB	INSR	STXBP2	MC2R	SLC7A7	UNC13D	BCKDHB	AKT2	OTC	ATP7B	SCN1A	CDKN2C	ASS1	PRRT2	ETFA	HNF4A	TBK1	TLR3	CPS1	CFH	IL18BP	PPOX
HP_DYSARTHRIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSARTHRIA	RERE	NOTCH2NLC	TARDBP	MT-TE	SLC9A1	RTTN	CACNA1A	SLC2A1	STUB1	SRPX2	RRAS	OPA3	FAR1	PIK3R5	PCNA	RIT1	ENTPD1	CHCHD10	PLD3	DCAF17	ATXN1	EIF4H	CYP27A1	CCNF	ATP2B3	MICOS13	ERCC3	EXOSC5	NDUFA10	BIN1	CCDC88C	RNASEH1	TWNK	TECPR2	POLR3A	EBF3	ERCC5	MT-ATP6	ALS2	NEFL	SPG7	C19orf12	POLG	SLC18A2	HPCA	PSAP	CIITA	GOSR2	GLRX5	SQSTM1	PUS3	WIPI2	DNAJB6	MED13L	DNAJC6	PDGFB	HS6ST1	PET100	ATP1A3	PLP1	NOTCH3	SERPINI1	CHRNA1	PLA2G6	CSTB	TRAPPC11	GJC2	TUBB4A	MRE11	DUSP6	MAPT	EPCAM	TARS1	POLG2	GRID2	ATXN3	REPS1	RAB3GAP2	DEGS1	GBA2	XK	SUFU	MARS2	FGF8	METTL27	ALDH18A1	SYT14	SOX10	NPC2	MTPAP	NKX6-2	NKX2-1	SCARB2	VAMP1	SNCA	KCNA1	SLC44A1	MPL	VWA3B	DYNC1I2	DAB1	NDUFV2	AUH	GCH1	DCC	NDUFA4	ATXN7	ADCY5	ELN	GLUD2	SAMD9L	FMR1	MAN2B1	FLRT1	KRAS	SNORD118	ARSA	MSH2	NDUFAF2	FKBP6	TBK1	RUBCN	KCND3	STAC3	ERLIN1	ZFYVE26	PNKD	BUD23	PEX10	WFS1	NDUFA12	DNAJC30	FGF14	PRKRA	VPS13D	VPS13A	NR4A2	SIL1	EMC10	VPS37D	SLC16A2	RAI1	RARS1	MYOT	B4GALNT1	SPAST	TNR	SLC1A3	ADGRG1	ABCD1	PROK2	AP4M1	ECHS1	MATR3	SLC30A10	CACNA1G	THAP1	RNF216	SLC19A3	COX15	RFC1	POLR3GL	PTPN11	EEF2	PRNP	HTRA1	PIEZO2	VLDLR	KCTD7	RAF1	CYP7B1	SMARCAL1	TBP	TBC1D24	GSN	SYNJ1	CHRNE	LRP12	NUP62	KIF1C	JAM2	THG1L	RRM2B	NEFH	AP4B1	GPAA1	MLH1	FTL	FOXP2	PEX2	NDUFA9	TACO1	BRAF	EIF2B2	TTBK2	ATXN2	PACS1	MME	ERCC8	MKS1	ATXN10	ALAD	CP	COLQ	NDUFS8	SMS	SEMA4A	SELENOI	SOS1	PPP1R15B	PRDM8	ACBD5	SPG21	GAN	TPP1	ANO10	DDHD2	REEP1	PMS2	WWOX	ELOVL1	NRAS	SOS2	ZNF592	COQ2	PRRT2	ERCC2	TMEM106B	TTC19	TRIM37	VPS11	NEB	HSD17B4	PRPH	MT-TT	AMACR	UBB	MAP2K1	FGF17	HSD17B10	TREX1	KLC2	CTSF	XPR1	KMT2B	MYORG	GSS	RFXANK	HEPACAM	BAZ1B	ATM	KCNC3	INPP5K	FAM126A	RRAS2	DCX	PANK2	SOD1	JAK2	NOP56	ATP13A2	PCGF2	PNPLA8	ATP1A2	ATP7B	CACNB4	TTN	MMUT	GBA	RPIA	HEPHL1	SCO2	HACE1	NUTM2B-AS1	C9orf72	COX20	SPG11	POU4F1	TANGO2	KCNA4	PFN1	SEC31A	ABHD12	PEX16	CPLX1	WDR73	FUZ	TK2	PDYN	AAAS	SYNE1	PDGFRB	NDUFS1	ARX	NDUFAF5	EIF2B3	CLIP2	CBL	PRKCG	GTF2IRD1	SPART	SACS	WDR81	CHD3	COA7	GIPC1	NDUFA13	CWF19L1	ITPR1	FXN	GTF2I	ABCA2	NCF1	GPT2	NPPA	NEK1	NDUFS7	SYT2	NHLRC1	DRD3	MPLKIP	TOP3A	NDUFS2	MTRFR	NDNF	FOXRED1	GRHL3	TMEM240	SURF1	HPRT1	GTF2E2	ATG7	GALT	FA2H	POLR3B	GCLC	GLE1	WAC	PRICKLE1	GRIN2A	EIF2AK2	RPS20	SCN5A	MRAS	CLN5	APTX	IRF2BPL	DARS2	BCL7B	NDUFS4	AP4S1	CHD7	AFG3L2	LYRM7	SLC25A4	GJA1	ADA2	ATN1	FLRT3	AP4E1	SCN1A	FBLN1	HOXB1	HMGCL	FIG4	CAMTA1	TGM6	KCTD17	TDP1	EIF2B1	EIF2B4	HEXB	FBXL3	GFM2	CISD2	SPEG	NSUN2	MLH3	RYR1	CLN3	CNOT1	TGFBR2	RFC2	SLC17A5	ERBB3	PRPS1	PNKP	SATB1	PROKR2	EIF2B5	GRM1	SPRED2	GCDH	VCP	CLDN11	FGFR1	RFX5	ATCAY	MAG	TIMM8A	ATP8A2	FUS	ADD3	CCDC141	PDE10A	ELOVL4	DMXL2	ZBTB11	PI4KA	RFXAP	FBXO7	NFASC	OPTN	PPP2R2B	APOE	ERLIN2	GALC	GFPT1	PMPCA	VPS41	RAB39B	CAPN1	DCTN1	COASY	SPTBN2	TOR1A	BMPR1A	PDHA1	FAN1	GJB1	ALDH3A2	MTTP	SETX	NDUFA2	SCN8A	NDUFAF6	XRCC1	TTPA	WDR11	MLXIPL	XRCC4	SNAP25	IFRD1	RNU12	GDAP2	TACR3	CA8	LIMK1	BEAN1	MECR	PGM3	SLC7A6OS	ELOVL5	PDE8B	DLAT	FEZF1	CSF1R	SLC35A1	AR	SLC20A2	SNCAIP	TBCE	NDUFV1	NF2	UBTF	NONO	ATXN8OS	SEMA3A	EPM2A	TUBB3	ERCC4	CTC1	TBC1D23	NUBPL	UBQLN2	FARS2	IL17RD	GTF2H5	ANOS1	SLC13A3	TBL2	PIK3CA	PEX6	ADPRS	SPR	RASA2	MVK	GNS	HHAT	HMBS	PABPN1	NDUFS3	TMEM270	RANBP2	SDHA	PUM1	HESX1	FAT2	UBA5	JPH3	PMS1	STX1A	THPO	SRCAP	LIPT1	ATL1	ADAR	MTFMT	PSEN1	RNF113A	AARS2	LMNB1	LZTR1	GTF2IRD2	DARS1	ADH1C	MSH6	NPC1	CACNA2D2	UROC1	SH3TC2	MAP2K2	ABCB7	EZH2	TTR	NUS1	PLEKHG4	CARS1	SPRY4	PPP1R21	VAPB	COA8	NARS2	ZC4H2
HP_EXCESSIVE_DAYTIME_SOMNOLENCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXCESSIVE_DAYTIME_SOMNOLENCE	TNPO3	SLC2A3	DPYS	DMPK	FKTN	SLC22A5	HCRT	DHCR7	SLC12A3	IL12RB1	NAA10	ZNF365	MTRR	HLA-DRB1	TWNK	HMBS	UNC93B1	CTNNB1	BRAF	HLA-DQB1	TICAM1	TNFSF4	NUP88	P2RY11	FBP1	COA8	PRPS1	DNMT1	SMARCB1	POMT1	TNFSF15	PTS	MMEL1	ACAT1	TBC1D24	BAP1	GJB1	SUFU	DOK7	RAPSN	MUSK	SMARCE1	IRF5	HTT	NF2	SPIB	IL12A	FKRP	TRAF3	MOG	TRAF7	TERT	POMT2	PDGFB	SMO	CTSH	TBK1	CLCNKB	TLR3	SLC18A3	HMGCL	AKT1	MYOD1	POU2AF1	PIK3CA	LARGE1
HP_SPASTIC_DIPLEGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTIC_DIPLEGIA	AASS	ALDH3A2	NDE1	GALC	GLRX5	SPG11	HSD17B10	ALS2	FLNA	NDUFA4	DARS1	SPTLC1	SIGMAR1	SOX2	HSD17B4	SIX6	NAA10	TAF1	GCDH	ADD3	NTRK2	PDHX	RAB3GAP2	BCOR	CTNNB1	ACP5	ELP2	SPTBN1	PNP	TUBB3	HUWE1	PSAP	PQBP1	RAB3GAP1	TANGO2	FUS	RNU7-1	AP1S2
HP_HYPOREFLEXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOREFLEXIA	WDR81	COA7	TRAPPC11	NOTCH2NLC	MYO9A	MPV17	AGRN	RTEL1	PYROXD1	SZT2	B3GALNT2	MT-TE	TBCK	CHCHD10	GARS1	GBA	FBXO38	INF2	PIK3R5	PMP22	MT-ND3	LMNA	KLHL41	DES	HSPG2	SLC25A4	SCN3A	ADSS1	WARS1	DAG1	NTRK2	SELENON	MPZ	ACAT1	IGHMBP2	ERCC3	PNKP	MORC2	SUCLA2	NEFL	MPLKIP	PEX5	SLC25A1	MSTO1	TPI1	ATP7A	TWNK	PDK3	FBLN5	C19orf12	COLQ	GTF2E2	LRP4	LRSAM1	POLG	MYH14	YWHAG	TERT	TG	CNTNAP2	SBF2	SYNJ1	MFN2	FDX2	ARV1	PSAP	DHH	SQSTM1	SNX14	RYR1	PHYH	FLNC	FUS	ACTA1	LMOD3	POMK	ATP1A2	SHANK3	APTX	DARS2	CACNA1A	GALC	KCNB1	KIF1A	PDHB	KY	KCNJ18	KIAA0586	CRYAB	SYT2	DNMT1	PLP1	COL4A1	LYST	IYD	MDH2	RUBCN	RAI1	PMM2	RMND1	POMGNT2	FIG4	MRE11	UBA5	TARS1	ATN1	POLG2	AMT	ZSWIM6	TRMT5	NARS1	FLI1	RAB7A	PIGN	POU1F1	HSPB1	GABRB2	MT-TW	PTRH2	GNB4	MTPAP	CLCNKA	HMGCL	GRIN2D	FGD4	HK1	HSPB8	ATP6V1B2	FASTKD2	GCSH	DYNC1H1	MT-ND1	TDP1	GBF1	BAG3	ABCA1	PRX	PNPLA6	IBA57	WNK1	SIL1	SLC1A2	FMR1	MYOT	EEF1A2	FLRT1	PRKCG	DNM2	KCNA2	NGLY1	WWOX	ARSA	AARS1	MYPN	QRICH1	SLC25A46	PIGB	TSHR	SLC5A7	TBK1	VAPB	MYH7	LDB3	KCND3	DGUOK	STAC3	MAG	ACTL6B	MT-TK	SNIP1	ELOVL4	CNTNAP1	COL13A1	TK2	DMD	BICD2	PODXL	NFASC	SCYL1	SMN2	CYFIP2	FLII	GNAS	RETREG1	NDUFA1	FHL1	DEAF1	SLC13A5	CFL2	CRPPA	VWA1	ELP1	DNM1	IARS2	GABRA5	STIM1	EMC1	PEX1	SEPTIN9	B4GALNT1	XPA	PTF1A	MT-ND6	POMT2	CNKSR2	EXOSC9	PARS2	TRPV4	SIGMAR1	FKTN	NECAP1	CLTC	SETX	DOCK3	MME	STX16	GDAP1	KLC2	DYSF	RFC1	AP3B2	TUBA8	PPOX	GABRA3	TPM2	LITAF	ATP1A1	TSPYL1	SPTLC1	BSND	TRIM8	VPS13A	SNRPN	DNAJC6	RRM2B	TSHB	MGME1	IFRD1	PEX12	TBC1D24	TRIM32	PIGG	PNPT1	SCN9A	HADHA	BEAN1	VPS33A	CACNA1S	KBTBD13	RXYLT1	PROP1	NEB	HADHB	NUS1	RNF170	GABRA2	HDAC4	SLC35A1	REEP1	AR	SCN8A	GRIA3	SNAP25	SMPD1	LARGE1	PEX10	ATP1A3	PEX2	CDK19	DPAGT1	ERCC6	PGM3	NDUFA9	EGR2	ATXN2	POMT1	ATXN1	LAMB2	LHX4	LHX3	SPTLC2	CHAT	MED25	PMPCA	HCN1	ST3GAL5	FBN1	TBC1D23	GAN	KARS1	NAGLU	GTF2H5	CACNA1B	DUOXA2	GRIN2A	ERCC2	TMEM240	ACD	CLCNKB	OTOG	NEFH	AIFM1	TPM3	SOX10	GLDC	NDRG1	VCP	MT-TL1	EXOSC1	SYNGAP1	ACO2	HSD17B4	ATP6AP2	TARDBP	CELF2	VAMP1	MEGF10	PPP3CA	FKRP	NDUFS4	ATP6V1A	COASY	TRAK1	GABRG2	RNF113A	POMGNT1	SLC18A3	PEX7	LPIN1	INPP5K	SLC25A19	ACOX1	MT-TV	MT-ATP6	ARHGEF2	ATL3	COX8A	SYNE1	PARN	DKC1	DUOX2	MT-ND2	DCAF8	HESX1	FGF12	TAOK1	MT-ND4	TPO	C9orf72	KIF1B	GEMIN4	B4GAT1	FGF13	ABHD12	TINF2	HSPB3	PEX6	COX6A1	TTR	MCM3AP	ALDH5A1	DHDDS	MT-ND5	SLC5A5	PPP1R21	COG7	IQSEC2	GJB1	SMN1	EXTL3	HNRNPDL	ATXN10	NARS2	DALRD3	TRMU
HP_CHOREOATHETOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOREOATHETOSIS	SCN8A	TRIM8	MECP2	HSD17B10	NEUROD2	SLC2A1	VPS13A	PDHA1	NDUFA13	FBXL4	PIK3R5	QDPR	SCN2A	HSPD1	MRPS34	PNPT1	TSEN2	KCNA1	SPTBN4	DCAF17	SUCLG1	SYT1	DLAT	POLG	PTS	MICOS13	XPR1	ATN1	NUP62	GTPBP2	PIGN	CLPB	OPA3	GRIK2	SLC16A2	PRRT2	CDKL5	MT-ATP6	ADAR	HPRT1	MICU1	SIK1	PNKD	ATG7	ELP2	NADK2	PANK2	GCH1	ATM	ERCC6	NDUFA9	PDE2A	GRM7	GNAO1	ATP1A2	ARX	PNKP	DMXL2	MMUT	SLC25A42	EIF2AK2	CASK	SCN1B	SH2B1	NDUFA1	TSEN34	POU3F3	IREB2	PIGQ	GNAS	APTX	IRF2BPL	GCDH	TSEN15	ST3GAL5	FRRS1L	GUF1	ATP1A3	SEPSECS	COX20	PLP1	DDC	CACNA1B	TNR	CACNA1A	SLC1A3	GON7	XPA	GJC2	TUBB4A	SCN1A	NKX2-1	AP1S2	SUOX	SLC30A9	TSEN54	ERCC2	NDUFAF5	PIGP	SETX	FTL	SLC25A22	SPR
HP_MENTAL_DETERIORATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MENTAL_DETERIORATION	UBAP1	NOTCH2NLC	TARDBP	TREM2	OPA1	TIMMDC1	MT-TE	PRNP	POLR3K	MAPT	APP	ABCD1	DNM1L	PARK7	MT-ND5	SUMF1	APOL4	TIMM8A	CHCHD10	VCP	SCN3A	CHMP2B	WDR45	DCAF17	TBP	NTRK2	CYP27A1	CCNF	SZT2	WFS1	MTHFR	NHLRC1	RNASEH1	CTSD	GALK1	MT-TH	ACTB	MT-TK	HTT	GRN	HFE	ATP13A2	USP8	MT-CO1	C19orf12	ADA2	COG2	MT-ND1	ASAH1	GALT	TREX1	CSTB	FA2H	YWHAG	CNTNAP2	TRPM7	ARV1	SQSTM1	PSEN1	NAGLU	RTN4R	CDH23	SNCA	SGPL1	DNMT1	ATP6V1A	ATP1A2	CLN5	APTX	DARS2	PDGFB	MT-TF	CACNA1A	GALC	KCNB1	PSAP	TOMM40	ATP1A3	PLP1	NOTCH3	SERPINI1	MT-ND6	AMACR	TMEM106B	SYNJ1	PLA2G6	PPP2R2B	PDGFRB	MMACHC	SPG21	DNAJC6	UBA5	ERCC4	PODXL	MT-CO2	ATN1	TBK1	ATXN3	GLB1	ATP7B	MT-TL1	TIA1	ATXN7	GABRB2	NPC2	NDUFAF3	ZFYVE26	GRIN2D	TUBB4A	SCARB2	LRRK2	ALDH18A1	TLR3	SLC44A1	FBXO7	IDS	HEXB	DRD3	CST3	PRKAR1B	DAOA	PRKN	CHD2	AUH	CISD2	CYLD	CLN3	GLUD2	SLC1A2	FMR1	TWNK	EEF1A2	MT-TC	MICOS13	KCNA2	MECP2	ARSA	AARS1	VPS13C	PNPLA6	SNORD118	PTS	PRDX1	GCDH	CSF1R	CREBBP	PPT1	GBA	APOE	ACTL6B	HIBCH	ROGDI	FUS	RRM2B	MFSD8	PLAU	ITM2B	MPO	PANK2	GBA2	GCH1	LRPPRC	MBTPS2	MT-CYB	GBE1	AASS	SLC2A3	VPS13A	NR4A2	NRAS	CYFIP2	COL4A1	PMPCA	GIGYF2	RAB39B	GRIN2A	SLC13A5	EP300	DNM1	GABRA5	HTRA1	LYST	SPG11	STUB1	EPM2A	CUX2	COL18A1	EIF4G1	HEXA	SLC1A3	XPA	DGUOK	CNKSR2	PARS2	APOL2	NECAP1	CLTC	PRKAR1A	ATP6V0A2	SDHAF1	DCTN1	RNF216	SDHD	MATR3	MT-ND4	FTL	SPAST	AP3B2	TTPA	MT-TW	PSEN2	ABCA7	QDPR	KCTD7	MT-TV	SCO2	TYROBP	SURF1	GDAP2	PINK1	POLG	MT-ATP6	SDHA	KARS1	LIG3	CHI3L1	SLC7A6OS	C9orf72	HTR2A	JAM2	HNRNPA2B1	NUS1	JPH3	GABRA2	DLAT	CUBN	SCN8A	SLC20A2	SNCAIP	SNCB	GABRB3	DNAJC13	CDK19	FAR1	ERCC6	GM2A	ATXN2	AP5Z1	MCOLN1	HLA-DQB1	ERCC8	ATXN10	UBTF	CP	MFN2	HCN1	NBN	CTC1	PRDM8	NDP	MT-CO3	UBQLN2	HGSNAT	CLN6	KCNC1	NDUFB8	CACNA1B	BSCL2	ERCC2	GNAS	TMEM240	NDUFA6	TYMP	SORL1	NOS3	PAH	ATXN8OS	WWOX	SYNGAP1	COMT	HMBS	SCN1A	MT-TT	COX6B1	CELF2	CERS1	HSD17B10	SDHB	KMT2A	MT-TS2	CTSF	XPR1	PPP3CA	CLN8	COASY	MYORG	HEPACAM	TINF2	TRAK1	L1CAM	GABRG2	TUBA4A	AARS2	RBM28	LMNB1	IDUA	HNRNPA1	PDE10A	FRRS1L	ADH1C	PRICKLE1	HTRA2	IRF6	PDE11A	FGF12	ATP6V1E1	NPC1	VPS35	FGF13	CTNS	SYN2	TTR	CFAP43	TK2	NDUFS2	DNAJC5	PLEKHG4	UCHL1	DHDDS	MT-TQ	MAPK10	HNF4A	PRKCG	RAB27A	STARD7	DALRD3
HP_HEMIPARESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMIPARESIS	TLR3	TSC1	EOGT	IL12A-AS1	MT-TW	MT-TF	MT-ND6	IL12A	CACNA1A	OPA1	DCC	MT-CO2	FGFR1	SLC2A1	TSC2	SLC1A3	PIK3CA	DNM1L	MT-TL1	TGFBR3	MT-ND5	TLR4	CFHR1	MT-TV	MT-TC	SCN1A	SMARCAL1	ENG	IL10	TREX1	MT-TS2	ATP1A3	BAP1	MTHFR	HLA-B	ERAP1	MT-TH	TPP2	SMARCE1	SPOP	MT-CO1	NF2	DOCK6	THSD1	TRAF7	ADA2	SMO	MT-ND1	STAT4	UBAC2	MT-CYB	AKT1	ATP1A2	GBE1	CFHR3	HTRA1	SPATA5L1	HLA-DQB1	AKT3	KRAS	COL4A1	IFNGR1	MEFV	RHOBTB2	PNPLA8	ARHGAP31	MTOR	TUBB2B	C4A	GUCY1A1	CYP26C1	SMARCB1	PRNP	ANGPTL6	DLL4	TBC1D24	MT-CO3	KLRC4	TTR	SUFU	ABCD1	COL3A1	NOTCH1	CCR1	TBK1	WDR62	MT-TQ	IL23R	MT-TK	TERT	PDGFB	PRRT2	RBPJ	MT-ND4	FAS	HMGCL	GNAQ	CFH	SP110
HP_MOTOR_DELAY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOTOR_DELAY	SLC6A3	ELN	NTNG2	UNC80	MECP2	DCPS	MYO9A	AGRN	ZEB2	NCDN	SLC9A1	BRAT1	UQCRFS1	DLK1	NDN	PDX1	GPC3	FAR1	NT5C2	SYNGAP1	RYR1	FLVCR1	CHRNE	COL6A2	PNP	RAB11B	FBN2	CDH2	MED27	JAG1	PAK1	MPZ	ATP2B3	PNKP	MORC2	SUCLA2	NEFL	PCDH15	CRAT	RPS6KA3	BIN1	FBLN5	GCK	TUBG1	DSE	CLCN7	RSRC1	MYF6	SLC5A7	EBF3	RSPRY1	GMPPB	PYGL	LRP5	LAMA2	PHKB	PTEN	MT-CO1	BICD2	MARS1	MT-ND1	EMC10	LTBP1	CNTNAP2	GLS	SEMA3E	CHST3	CC2D1A	CLP1	PTPN23	TRIP12	TPM3	TIMM50	KATNB1	GMNN	SH3TC2	NAA10	B4GALT7	MEG3	TH	SMARCAL1	SBF2	FMN2	GFPT1	ATP6V1A	SHANK3	MED13L	SETBP1	MT-TF	COG4	KMT2C	CLCN3	MTMR14	COPB1	TKFC	FKRP	SPTBN1	ASPA	KARS1	SYT2	CPLX1	FGF3	FBXW11	WDFY3	COL6A3	ALMS1	RAB3GAP1	TCF20	PHKA2	FUS	NDRG1	GJC2	IL1RN	MMP13	TUBB4A	SOX5	TMEM94	RTL1	REPS1	IGF2	GABRA5	ZSWIM6	NPHP1	TSEN54	SYT1	CTNNB1	TUSC3	KCNQ2	BCORL1	RLIM	MT-TL1	TMEM63A	ALDH18A1	NPAP1	GALNT2	BCOR	MTPAP	CLCNKA	NSUN2	TRIP4	TMCO1	NKX2-1	DYRK1A	MYT1L	FLNA	FASTKD2	DYNC1H1	GRIN1	PBX1	PLOD1	SPEN	DYNC1I2	DNM2	ADGRG1	LONP1	CADM3	AUH	PRX	COL13A1	IL37	POMGNT1	ADCY5	VPS4A	POMT1	VPS13B	TENT5A	SNRPN	SPARC	FLRT1	DHX30	FKTN	NGLY1	GALE	FARSB	MYPN	QRICH1	FGFR3	KMT2E	BMP1	UBE3B	KIF14	DPAGT1	CLPB	UBE3A	HPDL	RUBCN	RUSC2	HIBCH	CSGALNACT1	STAC3	CAMK2A	MICU1	PRPS1	MAGEL2	CDKL5	NDUFA12	PDK3	GTF2E2	MSL3	TNPO3	PRKRA	TCF7L2	PUS7	TLK2	MFF	SIAH1	BCL11B	SELENON	GFM1	SLC25A42	TUBA1A	SYNCRIP	TSPAN12	KLHL41	NDUFA1	MYO7A	FXR1	PTCH1	IARS2	AGO2	ARL13B	IGF1R	PTS	ST3GAL3	HACD1	CFL2	TNR	SNORD115-1	EGR2	ATP1A3	LRRC32	TRAPPC9	MED23	ACTA1	PGAP1	KLHL40	TRPV4	KDM3B	MESD	SETD5	EP300	ITGA7	DOCK3	MAPRE2	YARS1	TAF1	AHI1	ATL1	ORC6	PLXND1	HNRNPK	GABBR2	KAT8	SETD1A	KIAA0753	CDK8	ACP5	SVBP	EXOSC2	POLR3GL	TNFRSF11A	CANT1	TTN	MT-ND6	YIF1B	SUPT16H	TPM2	RAI1	RALA	KDM4B	PURA	BSND	TBR1	BCAS3	NOVA2	CPE	PIEZO2	INPP5E	PET117	HERC2	DOK7	ATG5	SDHA	TBC1D24	DLAT	PSMD12	COL12A1	KBTBD13	NIPA1	MT-TW	ZMIZ1	SLC12A2	ALG12	TRMT1	SCN4A	NEB	VPS51	THG1L	SLC16A2	SUCLG1	UGP2	PSMG2	ZNF148	ANTXR1	FKBP14	PPP2R1A	TNRC6B	NEXMIF	CUL4B	VDR	NAA15	LSS	PTRH2	EN1	DOLK	GHR	CDKN1C	AP3B2	ARID2	SCN11A	RALGAPA1	SLC37A4	INPP5K	MFN2	COL3A1	DPM3	MYRF	CHAT	COL1A2	TUBB2B	FRRS1L	TSEN15	MUSK	COG1	FBN1	FDXR	SELENOI	ACTL6A	ACBD5	CHRNA1	SPG21	HEPACAM	TANC2	MSTO1	SLC39A13	MT-CO3	TNNT1	TK2	HGSNAT	GGPS1	TNFRSF11B	MYL2	WWOX	LINS1	ZNF592	ITCH	SLC9A7	MT-TE	PIGG	USH1C	UBE4A	EXT2	EZR	TRPV6	GRIA4	HS2ST1	IGF1	ANKRD17	MYH3	SRCAP	ALS2	DPYD	ASPM	HSD17B4	SLC1A3	SMPD1	ATP6AP2	ACTN2	SATB1	APC2	VAMP1	MEGF10	MRPS25	COA8	KCNA1	SDHB	SPTBN4	NMNAT1	KMT2A	LRP4	MT-TS2	KLC2	ALDOA	TRIP11	SPEG	MRPS14	UGDH	CNOT3	AMPD2	CREBBP	DMD	RPL10	KMT2B	TUBB	PAFAH1B1	NIPA2	FMR1	PCDH19	COQ2	MAN2B1	KCNC3	KPTN	FAM126A	DCX	MT-ND5	MRAS	UBE2A	CIB2	SNX14	PMP22	ARHGEF2	ABCC8	LTBP4	SLC45A1	MAOA	B3GALNT2	POMT2	KDM5B	GRIK2	CRADD	OPA1	TAOK1	SCO2	CHST14	MED12L	ALKBH8	ASXL3	MBD5	WASF1	RORA	KCNA4	NFIX	NDUFA8	WDR73	MAN1B1	GPSM2	FOXG1	ALG2	KIF7	SON	DLG3	EPG5	GRIA3	FITM2	AK9	NEK1	ODC1	TRIM2	MN1	EXTL3	SH3PXD2B	RBM8A	OTUD6B	TRIO	KLHL15	NEU1	SPART	CWC27	CHD3	TGFB3	ACADSB	DAG1	SEMA6B	POLR3K	GBA	HK1	COL6A1	FRMPD4	PLEC	KIDINS220	INS	ABCA2	LMNB1	MTMR2	MAPK8IP3	FBXO11	KDM1A	YY1	RPS23	ZBTB24	AHDC1	ACAT1	GPC4	SET	LAMB1	PREPL	SLC25A1	CTBP1	TAFAZZIN	LIAS	GALK1	MAP3K20	MT-TH	RRAS2	MLC1	HPRT1	FTSJ1	BRPF1	ACTL6B	CHD7	ADA2	COG5	ATG7	MADD	MYO18B	KY	COL5A2	DPYSL5	LARGE1	PTCH2	C12orf4	PHKG2	AGK	FDX2	GLE1	PLAG1	MID1	PACS2	WAC	SMC1A	NALCN	IQSEC1	SLC1A4	KCNMA1	WDR4	NTNG1	POMK	DARS2	TRNT1	MYOD1	TSHR	TCF4	MKRN3	BPTF	HNMT	WDR26	ATP10A	NEPRO	FIG4	CHRNB1	POR	MT-CO2	HARS1	TSPOAP1	POMGNT2	NARS1	CYP3A4	ARID1B	FBLN1	LMAN2L	CYP2U1	RAPSN	LMNB2	IFT52	ATXN7	TANGO2	ITPR1	FZD4	EHMT1	CCDC32	FGD4	CDK13	ZNF408	HADH	PRMT7	ALG14	EFEMP2	CHKB	SPTLC1	FBXL3	SIGMAR1	ERLIN2	POLR2A	CLIP1	TRRAP	CNOT1	RAB3GAP2	WASHC4	MICOS13	TMTC3	SMARCA2	UBR7	PNPLA2	PRR12	COL1A1	HMGA2	CLDN11	CASK	CDC40	NAA20	FOXP1	TECR	FBXO31	PHEX	AP3B1	PDE10A	COL2A1	NONO	REV3L	CTDP1	NFASC	SCYL1	ADARB1	PCBD1	PTPRQ	BMPR1A	GALC	PRSS12	VPS13D	PMPCA	AHCY	VPS41	SPOP	METTL23	PTH1R	RNF2	GJB1	EDC3	TMEM222	PIGO	PIGC	PPIL1	ATP6V0A2	SDHAF1	NKX6-2	H19	SDHD	SRD5A3	MT-ND4	GDAP1	SNORD116-1	AMN	AEBP1	NBEA	SARDH	GNPTAB	LMOD3	SUFU	VPS35L	TRIM8	STAT3	NRAS	MED25	ZC3H14	GRM1	MED13	RNU12	HADHA	CNOT2	KCNK4	MECR	SARS1	XYLT1	HADHB	NDUFA4	LARS2	SGMS2	LMX1B	ARCN1	LAMA1	CUL3	SNAP25	PAX7	HUWE1	VPS33A	MYL1	IDH1	SLC12A6	CDC6	TMEM38B	MINPP1	MPDZ	CHRND	GAA	IFT74	DDX6	NOTCH3	PLP1	VMA21	SHOC2	TSEN34	SAMD9	CNKSR2	PGM1	PALS1	CSNK2B	GEMIN5	TET3	RAC1	SEPSECS	SURF1	TUBB3	SP7	CLCN6	MYMK	DHPS	MBOAT7	DMXL2	ZNF407	STXBP1	CRBN	GRM7	TTC5	SPRED1	HS6ST2	PCYT2	MEF2C	STAG2	CLCNKB	LARS1	PWAR1	DYM	CRPPA	TNIK	HOXA1	B3GALT6	CYP27B1	SCN1A	SCN2A	LMNA	PPP2CA	TSEN2	NCAPG2	PUM1	PPP2R5D	CYP2R1	HTT	ASAH1	HECW2	B3GAT3	UFSP2	SIM1	CELF2	NDST1	OPHN1	SLC18A3	CUBN	ADAMTS2	SLC18A2	KDELR2	SYNE1	LMBRD2	MT-TN	P4HTM	GARS1	HELLS	SPG11	DARS1	NDP	SH2B1	SLC6A8	TRMT10A	ATP6V1E1	MED12	PWRN1	AIMP1	COQ7	KAT6B	IPO8	AGTPBP1	COL5A1	SHMT2	SMARCD1	NUS1	ZNF711	CARS1	MCM3AP	ALDH5A1	NEUROD2	SPR	PAK3	MYH7	COX10	KCNJ11	TRAPPC4	NEMF	DPF2	MT-TQ	AP1G1	DNAJC19	ZC4H2	JARID2	TRMU
HP_POLYNEUROPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYNEUROPATHY	MT-ND4L	SH3TC2	DHH	TTR	HLA-DQA1	GSN	GCLC	MT-ND6	ERCC8	ABCD1	GRM1	SNAP29	MT-ND5	MT-ND1	PIK3R5	ALAD	ARL6IP1	DARS2	PEX12	RPIA	MYOT	CYP7B1	PSAP	SPTBN1	PRPS1	COQ7	ABHD12	PMM2	MT-ND4	NAGS	NF1	HLA-DQB1	DMXL2	PEX7	FUCA1	TBC1D24	PDYN	SETX	MTRFR	LDB3	DGUOK	PDK3	OPA1	MT-ATP6	ATP7B	ERCC6	SEPTIN9	UQCRC1	MT-CO3	CD59	FAM126A	PSMC3	AIFM1	PEX11B	SYNE1	EDNRB	SLC25A19	SLC12A6	NF2	MYD88	MT-ND2	NGLY1	MT-CYB
HP_CEREBELLAR_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBELLAR_ATROPHY	SACS	WDR81	COA7	OPA1	SLC9A1	SEMA6B	RTTN	BRAT1	CACNA1A	POLR3K	STUB1	EXOSC3	HK1	TPP1	DPM1	CCDC88A	STT3A	DNM1L	ITPR1	AP4B1	SDHA	CDC42	PIK3R5	PCNA	SUMF1	L2HGDH	TBCD	SCN2A	PLA2G6	ATXN3	ZNHIT3	PLD3	WDR45	ATXN1	CYP27A1	ATP2B3	ERCC3	ALG1	PNKP	EXOSC5	KATNB1	MORC2	ATAD3A	CRAT	MPLKIP	TOP3A	CCDC88C	GTPBP2	GRIK2	CTBP1	CTSD	TWNK	CLCN7	POLR3A	EBF3	TMEM240	TECPR2	SPG7	C19orf12	GTF2E2	CHP1	ARMC9	COG5	STT3B	POLG	LAMA2	FA2H	PCLO	MARS2	POLR3B	ATP13A2	SERAC1	CNTNAP2	GNAO1	SC5D	NADK2	SNX14	COQ9	TXN2	SRD5A3	SPTBN2	AIMP2	DNMT1	ZNF335	WDR4	CLN5	APTX	IRF2BPL	DARS2	SLC33A1	WDR73	AP4S1	VPS11	FRRS1L	AFG3L2	FKRP	AP4E1	MDH2	AP4M1	RUBCN	PPP2R2B	TRAPPC11	TUBB4A	GRID2	SLC25A4	MRE11	SQSTM1	SLC39A14	KCNA1	BTD	MTHFS	TARS1	POLG2	REPS1	POGZ	DEGS1	VPS53	PIGN	SCN1A	TRAPPC4	PRNP	ATXN7	SYT14	PTRH2	NKX6-2	ALG9	MFF	FCSK	ACTL6B	TGM6	ZPR1	FAR1	TDP1	SLC44A1	VWA3B	PLAA	DAB1	PNPLA6	IBA57	TMX2	VPS4A	SAMD9L	FMR1	LNPK	MAN2B1	LIPT1	PRKCG	VARS1	MICOS13	DHX30	FKTN	NGLY1	WWOX	NODAL	NUP214	SLC25A46	COG8	ACY1	GRM1	CARS2	CLPB	KCTD7	KIF1A	KCND3	MAG	GPAA1	ATP8A2	COQ5	MFSD8	SIK1	CNTNAP1	TBC1D20	ANO10	PEX10	GBA2	TK2	FGF14	ATP1A2	GRM7	KCNJ10	NFASC	SCYL1	DMXL2	SIL1	CNP	COL4A1	PMPCA	CASK	VPS41	LAGE3	SCN1B	NDUFA1	FOXRED1	ZIC1	RNASEH1	RNF13	GRIA2	TUBB2B	UCHL1	COG6	LYST	EMC1	SCARB2	OSGEP	PIGT	CKAP2L	COL18A1	MED27	FGF12	GON7	PIGU	TBC1D24	GJB1	ATP1A3	EXOSC9	SETX	DNAJC3	MME	TAF1	COQ8A	CACNA1G	BCS1L	RNF216	HTT	COX4I1	KCNMA1	XRCC1	FARS2	RFC1	NDE1	PIGK	EXOSC2	KAT5	EEF2	YRDC	UFM1	MRM2	YIF1B	NEUROD2	BCAS3	XRCC4	VLDLR	RRM2B	SEPSECS	RNASEH2A	IFRD1	TSEN2	RARS2	RNU12	GDAP2	CYFIP2	TBP	ATP6V1A	BEAN1	SLC39A8	ZMIZ1	KIF1C	HSD17B4	TRMT1	POLR1C	WARS2	ELOVL5	DLG4	CDKL5	OPA3	LMX1B	SOD1	TBCE	CUL4B	PEX2	ERCC6	NDUFA9	CLN8	AP3B2	BCAP31	SLC1A3	ARG1	MCOLN1	PACS1	PLK4	ATXN8OS	SPTAN1	PITRM1	UBA5	ATXN10	SLC5A6	PIGQ	TRPC3	UBTF	GEMIN5	COG1	TTBK2	PIGS	FDXR	ARX	SHANK3	GTF2H5	STXBP1	KCNC1	PMPCB	ATXN2	NDUFS1	HERC1	PRRT2	ERCC2	PIGG	PEX6	TTC19	CIZ1	ADPRS	QARS1	MYH3	NALCN	TBC1D2B	ALG3	TRIM8	CRPPA	GAD1	MVK	ACO2	ATP6AP2	FBXL4	ELOVL4	PUM1	NMNAT1	FAT2	CTSF	GRN	TUBB	NDUFS4	BCL11A	HEPACAM	RNF113A	COQ2	EPRS1	KCNC3	AARS2	BCORL1	SYNE1	SLC9A6	NOP56	POMT1	PRUNE1	CYB5R3	CACNA2D2	COX20	SLC35A2	RORA	SH3TC2	RELN	ADSL	ABHD12	PEX16	AGTPBP1	CPLX1	NDUFA8	PDYN	CARS1	ALDH5A1	COG7	PIGP	MGME1	CYB5A	SLC25A22	TRAPPC6B	NARS2	SPART
HP_ABNORMAL_CORPUS_CALLOSUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CORPUS_CALLOSUM_MORPHOLOGY	RERE	KCNQ2	ACY1	FKTN	OFD1	NTNG2	UNC80	DCPS	ZEB2	DCC	CACNA1I	B3GALNT2	NCDN	RTTN	BRAT1	TBCK	STUB1	RB1	HYLS1	MACF1	SRPX2	RAC3	GPC3	COX7B	DOCK7	CDC42	NT5C2	TAF2	L2HGDH	TGIF1	CEP41	PIEZO2	TMEM67	CDH2	MED27	FAM149B1	DNAL4	ERCC3	SIX3	PNKP	KATNB1	PRRX1	LRP2	PAH	RBM10	GTPBP2	ODC1	FH	PTCH1	DYNC2H1	B9D1	PRMT7	TECPR2	POLR3A	NODAL	CDON	OTX2	ERBB4	RSPRY1	MYT1L	TBCD	FGFR1	RNF13	MT-CO1	STIL	BICD2	COG2	MT-ND1	EMC10	HESX1	TOGARAM1	DIAPH1	ARNT2	TRAPPC14	PCLO	CILK1	SLC6A9	CTNNA2	IFIH1	DDX59	CC2D1A	ARV1	PTPN23	RAC1	TRIP12	MED25	NTN1	NRAS	ERLIN2	SOX2	PUS3	SMARCB1	GLI3	FMN2	CPLX1	CRPPA	SIN3B	POU3F3	KIDINS220	ATP1A2	ALG3	MT-TF	KMT2C	CLCN3	SMARCA4	IBA57	FANCB	COPB2	FBXW11	WDFY3	SLC25A19	DDX6	PIK3C2A	RAB3GAP1	DYNC2I1	TCF20	CHAMP1	RMND1	SPG21	UBA5	DEAF1	KCNA1	ZIC2	RNASEH2C	SCYL2	TARS1	AMT	WDR62	PLP1	ARID1B	REPS1	GABRA5	RAB3GAP2	TSEN54	CSPP1	ALX3	TUSC3	BCORL1	DISP1	RLIM	WT1	MT-TL1	ZDHHC9	RNU4ATAC	ALDH18A1	ALDH6A1	DHCR7	GABRB2	CREBBP	PPP1R12A	PIGN	STAMBP	NSUN2	CEP57	TMCO1	NKX6-2	DYRK1A	FIG4	GRIN1	SPEN	VWA3B	PDHX	DYNC1I2	ZIC1	ADAT3	LONP1	KAT6B	PLAA	PIK3R2	HCCS	POMGNT1	TMX2	ADAR	VPS4A	VPS13B	C2CD3	SLC1A2	PMS2	MAN2B1	CIT	VARS1	KCNA2	ARFGEF2	LHX4	AARS1	TDGF1	INPP5E	KMT2E	MCPH1	UBE3B	PPP3CA	OCA2	VAX1	PIGB	CEP104	FGF8	SYNJ1	RAB18	NSD1	HPDL	FANCD2	SET	RUSC2	SMARCD1	SPATA5	ACTL6B	HIBCH	OTUD5	SNIP1	GLI2	RAI1	MTRFR	GAS1	POMK	ZBTB18	ZFYVE26	GOT2	LMBR1	ATP6V1A	BCOR	GBA2	MBTPS2	TCF7L2	PUS7	DLL1	SPATA5L1	FLI1	CYP11A1	SETD1B	GFM1	IGBP1	FLVCR2	CNP	TUBA1A	SYNCRIP	PYCR2	SCN1B	TUBGCP2	EP300	TUBB2B	RARS1	FDFT1	AGO2	IGF1R	L1CAM	PTDSS1	ST3GAL3	EMC1	TMEM107	TCF4	OSGEP	MKS1	PDHA1	RAB11A	TNR	SALL1	ARX	GON7	PIGU	DYNC1H1	FRMD4A	LRRC32	TRAPPC9	POMT2	B4GAT1	CNKSR2	MED23	PAX6	PARS2	NFIA	TMEM138	SHH	TMEM260	TRIP13	PGAP1	SPTBN1	KDM3B	NECAP1	PSAT1	CLTC	TUBB3	AP4M1	GPX4	MAPRE2	YWHAE	YARS1	TAF1	PDE6D	DISC1	ATL1	GNAO1	CLCN4	NDUFB11	HNRNPK	THOC6	COG4	KAT8	SETD1A	ACTB	RNASEH2A	KIAA0753	RPS6KA3	CDK8	SVBP	TUBA8	POLR3GL	TCTN2	PIGG	FKRP	MT-ND6	YIF1B	SUPT16H	KDM4B	BCAS3	MTOR	NOVA2	KCTD7	KIF1A	AIFM1	CTBP1	STAG2	KCNT2	CNTNAP1	C12orf57	HSPA9	CC2D2A	NUP188	MT-TW	ZMIZ1	TMEM216	ALG12	PRKCZ	CENPE	VPS51	DCHS1	CENPF	DDX3X	POLR1C	CPLANE1	CDK5	UGP2	CDKL5	TMEM237	ZNF148	GABRA2	FANCI	AP4B1	KNL1	PPP2R1A	TNRC6B	LARGE1	CUL4B	LSS	EXOC7	ATP1A3	EML1	AP3B2	GABRB1	TMEM70	AP5Z1	RALGAPA1	SLC1A4	COL3A1	CEP290	METTL5	KCNAB2	PPP1R15B	SPTAN1	PIGQ	CIC	FRRS1L	TSEN15	HCN1	NBEA	FDXR	ACTL6A	VPS11	POMT1	RPGRIP1L	PITX1	MT-CO3	NKX2-1	HERC1	SMO	SETBP1	PDPN	SHANK3	DDHD2	LINS1	HIVEP2	ERCC2	TMEM106B	ALDH7A1	SUZ12	UBE4A	PAFAH1B1	EZR	GRIA4	TMEM231	SLC12A2	HS2ST1	ANKRD17	B9D2	APC2	TGFB1	RSRC1	EXOSC1	SRCAP	HSPG2	DPYD	GAD1	POGZ	SYNGAP1	ASPM	ATP6AP2	SATB1	AHSG	RSPO2	KIAA0586	CELF2	ZNF423	USP7	SNAP29	MRPS25	KCNT1	GRM7	NMNAT1	KMT2A	MT-TS2	GMPPB	KATNIP	PHGDH	CNOT3	KIFBP	MPLKIP	TUBB	SIN3A	STXBP1	KIAA1109	KIF7	POU1F1	WDR45B	GABRG2	TCTN3	EPRS1	HTRA2	DCX	MFSD2A	ERMARD	MT-ND5	TXNDC15	GALC	ATP13A2	SLC45A1	KRAS	GJC2	PCGF2	SLC13A5	CEP152	KDM5B	GRIK2	TRAPPC12	PRUNE1	KCNQ5	CRADD	GLUL	PDHB	SUFU	MRPS22	HACE1	MED12L	ALKBH8	SPG11	ARL3	ASXL3	SLC35A2	ATN1	WASF1	RORA	FGF13	MOCS2	RELN	SEC31A	PEX16	GPC4	NDUFA8	FUZ	MAN1B1	GPSM2	FOXG1	FOXH1	PDYN	MED12	SON	ANKLE2	EARS2	BRSK2	EPG5	B3GLCT	GRIA3	DHDDS	NDUFAF5	TAOK1	DAG1	TOE1	MDH1	IQSEC2	MOCS1	GLYCTK	EXTL3	NCAPD3	SH3PXD2B	ARSI	TRAPPC6B	OTUD6B	NDUFA2	DALRD3	SACS	WDR81	OPA1	ALX4	SZT2	CEP120	FLCN	TRMT1	POLR3K	BRAF	GBA	HK1	KANSL1	CCDC88A	ITGB6	DNM1L	FRMPD4	EMX2	CDH15	SCN2A	GPT2	LMNB1	DOCK3	SCN3A	MAPK8IP3	KDM1A	YY1	TUBB2A	NTRK2	MLH1	AHDC1	NELFA	AMER1	AHI1	SYT2	CEP63	LAMB1	LETM1	MT-TH	ARHGAP31	UBE3A	CACNG2	GTF2E2	EIF2S3	ATG7	FA2H	POLR3B	DPYSL5	YWHAG	C12orf4	NADK2	MID1	ZSWIM6	SLC25A24	SMC1A	NEDD4L	NALCN	GRIN2A	CAMK2B	RHOBTB2	RECQL4	EIF2AK2	OSTM1	EFNB1	AIMP2	HNRNPU	BUB1B	KCNMA1	ZMYND11	IRF2BPL	DARS2	WDR73	SMG9	CACNA1A	TBCE	ARID1A	TRPM3	KCNB1	AP4S1	ASH1L	LYRM7	COL4A1	MDH2	WAC	BPTF	HNMT	WDR26	POMGNT2	EBP	TOPORS	SOX11	GPKOW	NDE1	NPHP1	MT-CO2	PRDM16	GFER	AP4E1	KIF14	SMARCE1	VPS53	PROKR2	LMAN2L	CYP2U1	IFT52	DIS3L2	CWF19L1	NSD2	BRF1	CPT2	GRIN2D	EHMT1	CCDC32	FAT4	AMPD2	CDK13	MAP1B	PIGP	GCSH	ASXL1	CCDC174	POLR2A	TP73	CLIP1	PRICKLE2	TMEM251	TRRAP	USP9X	AP1G1	CENPJ	LNPK	EEF1A2	WASHC4	FGFR3	CAMK2A	TMTC3	UBR7	TREM2	LIG4	IDS	CARS2	BMP4	CDC40	TARS2	MAG	NAA20	ATP8A2	MEF2C	TECR	FBXO31	SIK1	EXOSC8	FGFR2	TBC1D20	NONO	CDK10	TCTN1	NR2F1	PCNT	ADARB1	DMXL2	CD96	PRSS12	CYFIP2	FLII	CASK	VPS41	AKT3	ATRX	DNM1	SASS6	COG6	METTL23	PEX1	DHCR24	SMARCA2	BUB1	RNF2	ZNF462	ARL13B	EDC3	NTNG1	CSNK2B	NARS1	ANKRD11	KIF2A	NEXMIF	PYCR1	PPIL1	AIMP1	PRKDC	MT-ND4	POLG2	NFIX	CACNA1E	C2orf69	WDR35	KAT5	MOGS	DONSON	ABAT	ARID2	NEUROD2	ALG8	PIGC	SEPSECS	ZC3H14	TSEN2	MT-CYB	PRPS1	PSMD12	MED13	TYROBP	KCNK4	SLC12A6	RXYLT1	VAC14	PUF60	PROP1	HSD17B4	CEP135	SARS1	IER3IP1	PIBF1	TTI2	NUS1	SIX6	UBE4B	CSF1R	SCN8A	CDK6	FOXA2	NHLRC2	RAD51	HUWE1	CDK19	FAR1	MINPP1	DPAGT1	UBTF	DDB1	CNOT1	ZNF699	CTNNB1	TANC2	EOMES	IQSEC1	CHMP1A	MCOLN1	GDF1	KIF5C	RNASEH2B	SOX4	LHX3	SETD2	SMARCC2	SHOC2	MADD	TSEN34	MBD5	SLC5A6	PALS1	NANS	CUX1	KIRREL3	ERCC6	MBOAT7	TBC1D23	VANGL2	MMP23B	SOX3	KIF15	ATAD3A	GTF2H5	CRBN	CACNA1B	TTC5	EPB41L1	DACT1	RPGRIP1	PNPT1	PORCN	UPF3B	BUB3	ACTG1	ACER3	VAMP2	WNT3	GLDC	ASNS	SAMHD1	EXOC2	QARS1	HRAS	WWOX	MAF	TRIM8	ADNP	TNIK	ALX1	FGFRL1	ACO2	HHAT	SPECC1L	FBXL4	CCDC47	MAP2K2	PPP2CA	PSAP	EXOC8	PPP2R5D	DPF2	DYNC2I2	HTT	CLN5	SSR4	CBY1	UFSP2	ZBTB20	NDST1	SLC25A10	COASY	GRIN2B	AHCY	NRROS	TRAK1	RAB23	RNF113A	CLP1	CASZ1	MTHFR	LMBRD2	HIC1	SLC9A6	ZFR	TAF13	ZNHIT3	PLPBP	DARS1	PIGH	NF1	ARMC9	DPH1	BCAP31	GFM2	SLC6A8	FGF12	PPP2R3C	LUZP1	MRPS16	TRMT10A	NAA10	DOCK8	AGTPBP1	PHC1	PIGA	SHMT2	CARS1	GABRD	SKI	CDK5RAP2	IFT80	GLRX5	PPP1R21	COG7	WDR4	TRAPPC4	SLC25A22	TREX1	NEMF	ALG2	MT-TQ	NARS2	JARID2	DHX16
HP_AGENESIS_OF_CORPUS_CALLOSUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGENESIS_OF_CORPUS_CALLOSUM	FKTN	OFD1	ZEB2	DCC	ALX4	CEP120	B3GALNT2	FGFR1	RTTN	HYLS1	PDHA1	KANSL1	RAC3	GPC3	COX7B	SHH	KIDINS220	EMX2	TGIF1	CEP41	PIEZO2	DAG1	YY1	CDH2	MLH1	NELFA	DNAL4	ERCC3	AMER1	AHI1	HCCS	KATNB1	GPC4	CEP63	PRRX1	MPLKIP	GTPBP2	LETM1	FH	DDX59	MT-TH	DYNC2H1	NODAL	CDON	OTX2	FOXH1	SMARCA4	FGF8	MT-CO1	STIL	GTF2E2	ARX	LRP2	MT-ND1	HESX1	FOXG1	TDGF1	MID1	ZSWIM6	PHGDH	NTN1	SIX3	SOX2	RECQL4	SMARCB1	GLI3	OSTM1	CPLX1	CRPPA	HNRNPU	L1CAM	PPP2R1A	MT-TF	PDHB	PTCH1	CLCN3	ARID1A	COL4A1	COPB2	SLC25A19	DYNC2I1	POMGNT2	SOX11	MED12	NDE1	MED25	ZIC2	NPHP1	MT-CO2	SCYL2	TARS1	AMT	PRDM16	WDR62	ARID1B	RAB3GAP2	KIF14	POU1F1	PROKR2	DISP1	MT-TL1	RNU4ATAC	DIS3L2	CWF19L1	NSD2	CREBBP	CPT2	PPP1R12A	PIGN	STAG2	CDK13	FIG4	GCSH	EPG5	ARNT2	KIAA0753	SPEN	PDHX	DYNC1I2	ZIC1	ADAT3	ASXL1	KAT6B	RERE	POLR2A	POMGNT1	TP73	EHMT1	AP1G1	CENPJ	KIF7	PMS2	POMT2	CIT	LHX4	POMT1	INPP5E	MCPH1	BUB1B	VAX1	NSD1	FANCD2	CDC40	SMARCD1	OTUD5	GLI2	GAS1	POMK	CTBP1	FGFR2	CYP11A1	MBTPS2	DLL1	FLI1	IGBP1	FLVCR2	TUBA1A	PYCR2	ATRX	TUBB2B	SASS6	SMO	SPG11	PTDSS1	DHCR24	TNR	SALL1	ZNF462	FRMD4A	LRRC32	B4GAT1	NFIA	TMEM260	PGAP1	EP300	PYCR1	PPIL1	TUBB3	GPX4	YARS1	DISC1	NDUFB11	HNRNPK	ANKLE2	ACTB	MT-ND4	CDK8	BMP4	WDR35	TUBA8	KAT5	PIGG	MT-ND6	SUPT16H	ABAT	KDM4B	MKS1	ARID2	ZBTB18	ASPM	MT-CYB	C2CD3	SLC12A6	HSPA9	RXYLT1	MT-TW	VAC14	PROP1	CEP135	PRKCZ	CENPE	DCHS1	CENPF	CDK5	SIX6	ZNF148	FANCI	UBE4B	CSF1R	KNL1	FKRP	CDK6	FOXA2	LARGE1	ALX3	RAD51	EML1	CNOT1	ZNF699	RAB3GAP1	EOMES	GDF1	SOX4	LHX3	METTL5	KCNAB2	SMARCC2	SMC1A	ERCC6	GMPPB	VANGL2	MMP23B	POLR3A	SOX3	KIF15	MT-CO3	NKX2-1	PDPN	SHANK3	GTF2H5	SMARCE1	SUFU	TRAPPC14	DACT1	PORCN	LONP1	ACTG1	ERCC2	SUZ12	WNT3	GLDC	SLC12A2	TMEM237	HSPG2	DPYD	ALX1	FGFRL1	FAT4	SPECC1L	RSPO2	NFIX	MRPS25	DPF2	MT-TS2	DYNC2I2	EFNB1	PUF60	RNF113A	HS2ST1	CASZ1	DCX	MTHFR	KRAS	MFSD2A	MT-ND5	TAF13	CC2D2A	RPGRIP1L	CEP152	TRAPPC12	DPH1	PPP2R3C	LUZP1	MED12L	MRPS16	C12orf57	RELN	SEC31A	FUZ	PHC1	GPSM2	PDYN	GABRD	SKI	DPYSL5	CDK5RAP2	B3GLCT	IFT80	NDUFAF5	MDH1	WDR4	HIBCH	NCAPD3	MT-TQ	NARS2	DHX16
HP_HYPERTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTONIA	NDE1	MYO5A	NOTCH2NLC	TARDBP	CNPY3	CACNA1I	NALCN	NCDN	RTTN	SLC2A1	ABCD1	OPA3	TAF2	ENTPD1	HSPG2	TGIF1	RAB11B	ATXN1	MICOS13	ERCC3	EXOSC5	NDUFA10	MORC2	SUCLA2	GTPBP2	ODC1	TWNK	ISCA2	REEP2	MT-ATP6	MYT1L	TBCD	RNF13	ALS2	CHP1	COG2	GBA	EIF2AK2	TAF1	POLG	PRF1	PLP1	TERT	PEX5	CTNNA2	GLYCTK	CDON	SYNJ1	CC2D1A	ARV1	CLP1	TIMM50	MED25	GLRX5	PSEN1	NAA10	COQ9	ERCC5	CYB5R3	ATP6V1A	ATP1A2	RTN2	PDGFB	GALC	PSAP	FRRS1L	MAPT	PET100	ATP1A3	IBA57	ASPA	AP4E1	NOTCH3	TBK1	NIPA1	RAB3GAP1	TCF20	RNASEH2B	GJC2	NIPBL	CHAMP1	SIX3	UBA5	SLC39A14	EPCAM	DCTN1	RNASEH2C	MTHFS	SCYL2	TARS1	POLA1	POLG2	REPS1	GABRA5	RAB3GAP2	DEGS1	GBA2	DISP1	GNB1	STAMBP	FKTN	NKX6-2	VAMP1	TCTN2	SNCA	ALDH18A1	MATR3	KCNA1	VWA3B	DYNC1I2	ADAT3	RAD21	PLAA	AUH	PLA2G6	PNPLA6	PEX11B	ADCY5	GLUD2	PDHX	FLRT1	NUP214	ATAD3A	ARSA	CHMP2B	DDHD1	CLPB	FGF8	CSF1R	PON3	SLC6A5	PCCB	KIF1A	CDK19	SET	RUSC2	SPATA5	NT5C2	ROGDI	MTRFR	GAS1	SCN2A	PEX6	BUD23	GCH1	DNAJC30	BRAT1	PNKP	SPATA5L1	MFF	VPS13A	SETD1B	NR4A2	PLPBP	CNP	TUBA1A	HSPD1	SCN1B	AASS	FOXRED1	SLC16A2	TUBGCP2	CRLF1	ARL13B	LYST	EMC1	OSGEP	ERCC8	MED27	RAB11A	SPAST	DSTYK	SLC1A3	XPA	MT-ND6	PITX3	FRMD4A	B4GAT1	MECP2	PGAP1	PEX13	ADGRG1	NECAP1	GPHN	CLTC	TELO2	TFG	ECHS1	HPDL	VAPB	CACNA1G	IARS1	SLC19A3	CACNA1A	UBQLN2	PYCR2	POLR3GL	APC	SPG7	UFM1	YIF1B	PRNP	HDAC8	HTRA1	ABCA7	WASHC5	ASAH1	QDPR	EBP	CYP7B1	SCO2	AIFM1	STAG2	PINK1	GLB1	NUP62	BICD2	KIF1C	TRAPPC9	FGF13	PEX7	JAM2	DDX3X	HIKESHI	SDHA	FIG4	CDKL5	GABRA2	MLH1	CYP27A1	KPNA3	SOD1	SMPD1	DNAJC13	DPAGT1	EDNRB	MCCC2	HMGCL	NDUFA9	TACO1	AP3B2	GM2A	EIF2B2	PFN1	ATXN2	ARG1	RALGAPA1	MME	PPP1R15B	SPTAN1	IREB2	WASHC4	MAG	CIC	GLI2	CP	MFN2	HCN1	SEMA4A	DDC	SELENOI	PRDM8	MTFMT	VPS11	VPS37A	GAN	RETREG1	SETBP1	EPHA4	SHH	DDHD2	SLC30A9	REEP1	PMS2	ZNF592	ERCC4	NDUFA6	COQ2	SOX10	PQBP1	XPC	GRIA4	NODAL	MT-TF	AFF3	TGFB1	RSRC1	DPYD	VCP	PRPH	MT-TT	GMPPB	TAF15	PCBD1	H1-4	NTRK2	HSD17B10	SCN4A	NDUFV2	UBAP1	PHGDH	UGDH	DNAJC12	KMT2B	PAFAH1B1	STXBP1	BAZ1B	ATM	RFT1	NEU1	SLC12A2	UQCRC1	HNRNPA1	DCX	AP4S1	PON2	ABCC8	PANK2	MT-TV	ALDH3A2	ATP13A2	FUS	KRAS	BTD	KDM5B	DKC1	GRIK2	HTRA2	TRAPPC12	PRUNE1	CRADD	OPA1	MRPS22	WDR45	ZNF292	ASXL3	B4GALNT1	TANGO2	MOCS2	SEC31A	ADSL	ABHD12	PEX16	TINF2	NDUFA8	SLC25A15	FUZ	MAN1B1	ARF1	SPG11	FOXG1	NSD1	ANKLE2	EARS2	NDUFS1	UNC13A	WDR73	FUCA1	ERCC2	EIF2B3	TOE1	MDH1	CLIP2	DHDDS	GTF2IRD1	TREM2	RAB27A	VPS13C	OTUD6B	ATXN10	CCDC88C	RAD50	RNU4ATAC	DALRD3	SACS	SLC6A19	EIF4G1	SEMA6B	TSEN54	BRAF	HK1	FRMPD4	PARK7	AP4B1	MT-ND3	CDH15	FXN	GTF2I	ATXN3	SUCLG1	ACAT1	PAX3	SZT2	SATB2	NHLRC1	MPLKIP	LAMB1	LIAS	MCCC1	RANBP2	FOXH1	TMEM240	SURF1	NADK2	KY	FA2H	FDX2	PLK4	SMC1A	TDGF1	CAMK2B	ARHGAP31	DLD	TUBG1	OGDH	SLC1A4	RPS20	ZNF335	ZMYND11	NTNG1	ZEB2	L1CAM	IRF2BPL	NDUFS4	NDP	ASH1L	AFG3L2	LYRM7	C19orf12	AP4M1	HNMT	SLC25A4	GJA1	TH	SUOX	ATRX	AUTS2	NAGA	RAB18	VPS53	CYP2U1	NDUFAF3	GRIN2B	TBL1XR1	NDUFS8	SAMHD1	HEXB	SPTLC1	ASXL1	ERLIN2	KCNJ6	NSUN2	SIL1	LNPK	EEF1A2	TGFBR2	PRKCG	KCNA2	WWOX	TMTC3	SLC25A46	EIF2B5	CPT1C	CLDN11	NTNG2	FOXP1	ADD3	SIK1	TBC1D20	DYNC1H1	PPP3CA	NEK1	PI4KA	PODXL	GRM7	GBE1	NR2F1	GLRA1	SCYL1	APOE	MARS1	PPARGC1A	PRSS12	VPS13D	PMPCA	VPS41	LAGE3	SPOP	POMGNT1	RAB39B	ITM2B	COASY	GRIA2	DNM1	BMPR1A	ARX	GPT2	HEXA	PDHA1	FAN1	PRKN	GJB1	CSNK2B	NARS1	TMEM222	KIF2A	FLNA	GRIN1	SLC13A5	SCN8A	SATB1	RNASET2	AIMP1	SDHAF1	ELOVL4	MICU1	FTL	BCS1L	PRRT2	ERBB4	GATAD2B	CIT	MLXIPL	TMEM67	ADAM22	NEUROD2	DNAJC6	CNOT1	SRPX2	ZC3H14	FARS2	TSEN2	PRPS1	GRM1	FBXW11	TYROBP	CYFIP2	OPTN	BEAN1	NDUFAF5	TMEM231	SARS1	LOXL1	NUS1	PDE8B	STN1	CCT5	DLAT	DLL1	KIDINS220	SLC20A2	KIF5A	IDUA	SUZ12	HUWE1	APP	DARS2	ERCC6	AP1S2	WDR26	CHMP1A	MTPAP	KIF5C	FAR1	ATXN8OS	LDHA	TSEN34	MBD5	SLC5A6	UBTF	PAX1	CAMK2A	SEPSECS	CUX1	KIRREL3	POLR3B	CTC1	DHPS	MBOAT7	TBC1D23	NUBPL	TDP1	AGA	GTF2H5	AMPD2	CRBN	PMPCB	DAO	PCYT2	GRIN2A	ACD	GNAO1	PNPT1	ACER3	SPR	TRAF7	GABRG2	TRIM8	ADNP	TNIK	NDUFAF6	POMT1	HTT	DYRK1A	ANG	ZFYVE27	ATP6AP2	ZIC2	EXOC8	PUM1	CLN5	ARHGEF9	CLCN3	JPH3	NUP133	GLT8D1	CNTNAP2	STX1A	SLC25A10	LIPT1	ATL1	TRAK1	ADAR	DHCR24	BSCL2	ZFR	CAPN1	MINPP1	UFC1	SPTBN2	GTF2IRD2	DARS1	ADH1C	HLA-DRB1	MT-ND2	FGF12	CACNA1D	CLCN4	LARGE1	GUF1	TRMT10A	EZH2	TTR	LMNB1	PIGA	SHMT2	SOX4	NDUFS2	TREX1	GRIN2D	SQSTM1	FMR1	VAC14	KANK1	WDR4	DNMT1	SLC25A22	MTO1	NEMF	ACOX1	AP1G1	TBP	RERE	KCNQ2	SLC6A3	UNC80	DCPS	RTEL1	STUB1	MACF1	EXOSC3	MGAT2	CKAP2L	SUMF1	L2HGDH	PNP	GABRA1	EIF4H	VPS35	NCAPD3	MTHFR	TTC26	TPI1	CTSD	TECPR2	POLR3A	FGFR1	CASK	SLC18A2	ARNT2	PCLO	SLC6A9	SERAC1	ATP7A	ACADS	IFIH1	RNU7-1	SMC3	KATNB1	SNX14	DBT	TPRKB	SOX2	ERCC1	FMN2	POU3F3	ALG3	STIL	TOMM40	COPB1	SPTBN1	KARS1	PSPH	SLC25A19	TUBB4A	PTCH1	SPG21	MRE11	COPB2	DEAF1	PEX3	PTCD3	ZSWIM6	TUSC3	MARS2	METTL27	TRAPPC4	DHCR7	GABRB2	KYNU	NPC2	BCOR	FTO	LRRK2	MT-ND1	TMX2	NDUFA13	MIPEP	NDUFA4	ATXN7	VPS4A	ELN	SLC1A2	LIPT2	MAN2B1	LBR	AARS1	SNORD118	B3GALNT2	PTS	MSH2	ATAD1	NDUFAF2	FKBP6	BRD4	KCND3	DOCK6	ACTL6B	MT-TK	PDCD1	SLC33A1	ERLIN1	ZFYVE26	GOT2	PCDH12	NDUFA12	ANK3	MSL3	CLCF1	BCL11B	GFM1	VPS37D	PEX14	RARS1	C9orf72	UCHL1	HPRT1	NEFL	ST3GAL3	SIGMAR1	TNR	ANXA11	EIF2AK3	PIGU	DLL4	KIF11	CCNF	CNKSR2	MED23	PARS2	PSAT1	COG4	SLC30A10	GABBR2	RNASEH2A	RPS6KA3	COX15	ACP5	SVBP	PEX1	BCAS3	TRIT1	NOVA2	KCNQ3	PCDH19	OSTM1	PNPO	PIGN	POLR1C	WARS2	NEFH	UGP2	GPAA1	GLRB	PHACTR1	TNPO2	NEXMIF	ELP2	EML1	LINGO1	AP5Z1	HLA-DQB1	UBE4A	INPP5K	PIGQ	TSEN15	NBEA	FDXR	TP53RK	NOTCH1	NDUFB8	BCKDHB	LINS1	TMEM106B	TTC19	EZR	PAH	TOR1A	TUBGCP6	CFAP410	GAD1	SYNGAP1	HSD17B4	GSX2	SETX	ABCA12	MED17	AMACR	DDB2	CELF2	APC2	COA8	SDHB	KCNT1	PEX12	KLC2	OCLN	CLN8	MPDU1	GSS	HEPACAM	WDR45B	EPRS1	EIF2S3	SLC25A12	TXN2	NOP56	SLC45A1	MED13L	PARN	PNPLA8	KCNQ5	DENND5A	PEX10	RPIA	HACE1	MT-ND4	ALKBH8	SLC35A2	SLC35C1	KCNA4	PEX26	COL4A2	ALG11	SYNE1	GFAP	SON	PDGFRB	BRSK2	WDR62	GRIA3	MT-ND5	TAOK1	MOCS1	CYB5A	EXTL3	ARSI	GAMT	SPART	CLIC2	DPM1	DNM1L	POMT2	NCF1	MRPS34	SCN3A	MAPK8IP3	BCKDHA	KDM1A	WDR48	SCN9A	MLC1	CACNG2	GTF2E2	MT-TP	MT-TI	ARL6IP1	JAM3	NACC1	YWHAG	C12orf4	TUBGCP4	KDM5C	EED	RHOBTB2	BCL7B	GCDH	SCN1A	TRPM3	KCNB1	TSPOAP1	TRMT5	FBLN1	LMAN2L	MT-TW	BRF1	ERF	RYR1	ACTA1	PIGP	IKBKG	EIF2B1	EIF2B4	FBXO7	GFM2	CLIP1	PRICKLE2	MLH3	PON1	RFC2	SLC17A5	ISCA1	SMPD4	PPT1	CDC40	TARS2	FKRP	NAA20	TIMM8A	COQ5	TECR	FBXO31	CNTNAP1	EXOSC8	TK2	LRPPRC	CRYAB	NFASC	ADARB1	DMXL2	SLC2A3	PTPN23	CHCHD10	HNRNPH2	COL4A1	HLCS	GIGYF2	PCCA	PLCB1	METTL23	NDUFS7	EDC3	EXOSC9	PEX19	PPIL1	RLIM	NDUFA2	TUFM	ATP6V0A2	SDHD	CACNA1E	TTPA	C2orf69	EOGT	MRM2	PSEN2	NDUFAF4	RRM2B	PIGC	USP8	BOLA3	RARS2	GDAP2	LIMK1	MECR	INTS8	GLE1	SIX6	LMX1B	MT-TL1	SNCAIP	TBCE	KAT6A	NDUFV1	NUP107	CTNNB1	IQSEC1	MCOLN1	CARS2	METTL5	MED12L	EPM2A	SLC6A8	EYA1	TUBB3	TCF4	PNKD	PEX2	ACP2	CACNA1B	TTC5	EPB41L1	TBL2	PIK3CA	SORL1	NPHP3	DYM	ASNS	EXOC2	MTRR	THOC2	NDUFS3	TMEM270	NCAPG2	HIVEP2	PMS1	UFSP2	ATP2B3	NDST1	OPHN1	RNF113A	HS2ST1	AARS2	COLGALT1	COX8A	MSH6	MFSD2A	TP53	ATP6V1E1	NPC1	DOCK8	AGTPBP1	ZC4H2	TPK1	DAB1	ALG9	RBPJ	NDUFC2	DNAJC19	NARS2
HP_ORTHOSTATIC_HYPOTENSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORTHOSTATIC_HYPOTENSION	TNPO3	HEXB	SNCA	IL12RB1	DBH	CAV1	CHCHD2	ARSA	CYP11B2	GIGYF2	LEPR	LEP	ELP1	COQ2	GBE1	SPG11	SIM1	EIF4G1	VPS35	TNFSF15	GSN	MMEL1	COL5A1	NTRK1	COL1A1	TTR	LMNB1	GMPPA	AAAS	PSAP	IRF5	CHRNA3	GBA	SPIB	IL12A	LRRK2	DNAJC13	COL5A2	CYB561	POU2AF1	ATP7A
HP_SYNCOPE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNCOPE	SCN5A	FLNC	NOS1AP	MPL	ABCC9	NOTCH2NLC	MYBPC3	MYPN	RYR2	ZNF365	PRKAG2	KCNJ11	SCN1B	TNNT2	TBX20	GNB2	NKX2-5	SLC4A3	KCNQ1	COQ2	TBX5	JUP	PKP2	CALM1	SEMA3A	NPPA	AKAP9	ABCC8	KCNJ2	PSEN2	TRDN	SCN10A	AKAP10	TET2	BAP1	CASQ2	CACNA2D1	CALM2	SCN4B	ASXL1	GPD1L	UCP2	SMARCE1	DSP	NF2	THPO	KCND3	CITED2	ANK2	TRAF7	TECRL	KIF20A	KCNE2	SMO	KCNJ5	KCNH2	CLCNKB	RNF125	NTRK1	TRPM4	KCNE1	MYH6	ACTC1	AKT1	JAK2	SCN2B	TNNI3	SLC12A3	CACNB2	CALM3	ALG10B	GATA6	HNF1A	SRSF2	TNFSF4	CACNA1C	SCN3B	SNTA1	KCNE3	P2RY11	HLA-DQB1	HCRT	SMARCB1	SCNN1A	DBH	TNNC1	KCNE5	SLMAP	SUFU	GATA4	MGAT2	BVES	LMNA	TLL1	HCN4	CAV3	TERT	PDGFB	RANGRF	MOG	HLA-DRB1	CTSH	KCNJ8	DSC2	KIT	PIK3CA	PSEN1
HP_TETANY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TETANY	TBX1	CYP27B1	ARVCF	SEC24C	SLC12A3	TBCE	GATA3	RREB1	CLDN16	COMT	GP1BB	UFD1	KCNJ1	HIRA	CASR	CYP2R1	SLC12A1	PTH	TRPM6	JMJD1C	TCIRG1
HP_BULBAR_PALSY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BULBAR_PALSY	TRPM7	TBK1	PLAA	SLC52A3	CHCHD10	SYT2	TPM2	SQSTM1	MYO9A	AGRN	CHRNE	NEB	GSN	COL13A1	ABCD1	HK1	CHAT	TARDBP	MATR3	GIPC1	DES	VAMP1	C9orf72	ATXN1	PET100	SLC52A2	MYH7	RYR1	TPM3	MTRFR	LMOD3	SLC25A1	TK2	SLC5A7	ARSA	ACTA1	SELENON	DOK7	FUS	SLC18A3	DNAJB6	SNAP25	TIA1	AR	CHRNA1	VCP
HP_AREFLEXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AREFLEXIA	SACS	HARS1	MYO9A	MPV17	AGRN	BIN1	MYO1H	OPA1	PYROXD1	B3GALNT2	TTPA	GIPC1	CHCHD10	DNM1L	INF2	PIK3R5	PMP22	RYR1	LMNA	DYSF	FXN	FLVCR1	PLA2G6	ALG2	DAG1	PRPS1	ATXN1	JAG1	MPZ	IGHMBP2	ADCY6	SYT2	MORC2	NEFL	SBF1	LIFR	SLC25A1	ALG1	RNASEH1	TWNK	TECPR2	MTRFR	MYF6	TRIP4	TBCD	LAMA2	COLQ	LRSAM1	ARL6IP1	ASAH1	POLG	MYH14	SMN1	GDAP1	CNTNAP2	SBF2	MFN2	GLE1	JPH1	TBCK	ITGA7	GOSR2	PLEC	ACTA1	CRPPA	GFPT1	APTX	KIF1A	MTMR14	ATP1A3	COL4A1	CACNA1A	RAI1	RMND1	POMGNT2	FIG4	SLC25A4	SCYL2	POLG2	MYOT	ATXN3	PNKP	DES	MAP3K20	RAB7A	XK	PDXK	GNE	HSPB1	ALDH18A1	PEX11B	FGD4	HSPB8	ALG14	ERGIC1	TDP1	VCP	AIFM1	MT-TT	GBF1	HADHB	DNM2	CADM3	PRX	MRE11	PNPLA6	SPEG	WNK1	SIL1	ERBB3	FKTN	MYPN	SLC25A46	SLC52A2	MARS1	PNPLA2	TPM2	PIGB	SLC5A7	PEX5	MAG	TCAP	KCNK9	ERLIN1	ABHD5	COL13A1	PDK3	POMK	DPAGT1	SMN2	LGI4	VPS13A	KLHL41	RETREG1	ASCC1	DST	FHL1	FXR1	SLC25A21	STIM1	HACD1	ALG6	PEX1	CFL2	SLC1A3	EGR2	GJB1	POMT2	MTTP	TRPV4	SURF1	PEX12	SETX	DNAJC3	HNRNPK	XRCC1	OCRL	SAR1B	ATP1A1	SPTLC1	SNAP25	PIEZO2	RRM2B	IFRD1	ENTPD1	TRIM32	RFC1	ORAI1	TFG	CNTNAP1	MME	HADHA	TYMP	LRP12	KBTBD13	RXYLT1	PGM3	BICD2	NEB	KLHL9	SUCLG1	CDK5	RNF170	OPA3	REEP1	TPM3	LARGE1	PAX7	MYL1	SLC12A6	ERCC6	PRNP	POMT1	GAA	DKK1	HK1	CARS2	LAMB2	CHAT	MED25	GEMIN5	C19orf12	PLEKHG5	NOTCH2NLC	CNTN1	GAN	KARS1	SQSTM1	MYL2	PEX3	COL12A1	ALDH4A1	ACER3	SOX10	NDRG1	SPG11	SCN9A	ACO2	HSD17B4	ATP6AP2	DPYD	SNAP29	VAMP1	MEGF10	SPTBN4	PPP2R5D	DNAJB2	UGDH	FKRP	AARS1	GMPPB	POMGNT1	SLC18A3	LPIN1	INPP5K	CD59	ACOX1	HINT1	MTM1	ERCC8	GARS1	SELENON	AMPD1	ATP1A2	UBA1	DCAF8	TTN	SCO2	KIF1B	B4GAT1	SH3TC2	HSPB3	ZC4H2	COX6A1	PLEKHG4	MCM3AP	IBA57	PPP1R21	VAPB	TRIM2	PEX2	ARSI	PDSS1	NARS2	DHX16	COG7
HP_SPASTIC_TETRAPARESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTIC_TETRAPARESIS	RERE	KCNQ2	APOE	AUH	AFF3	ERLIN2	SMC1A	TACO1	MRM2	HSD17B10	PLP1	KCNJ6	FAR1	AASS	MFSD2A	PRUNE1	FA2H	ALG3	L2HGDH	PRPS1	LIPT2	LMNB1	PSAP	LIPT1	LYRM7	COA8	SDHB	SDHA	ATP6V1A	SLC35A2	TNR	ALS2	PAFAH1B1	NUP62	TMEM222	SOX4	ABCD1	PSAT1	STXBP1	IFIH1	EARS2	GSS	WDR62	SDHAF1	MT-ATP6	ADAR	REEP1	PSEN1	LMX1B	FBLN1	SOD1	PRDM8	PHACTR1	TRAPPC4	SDHD	EIF2S3	MOCS1	EXOSC8	TBCE	STAMBP	SLC18A2	DYM	PLA2G6	RNU7-1	GM2A	ARX
HP_MENINGITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MENINGITIS	TLR3	CIITA	BCL6	PTPN22	RAG1	NDE1	IL12A-AS1	TFRC	PIK3R1	IGLL1	HLA-DRB1	IL12A	CARD9	LRRC8A	ICOS	IFNGR1	MEFV	IGHM	NCF1	NLRP3	CYBA	BCL2	IL7	JAK3	RFXANK	RFXAP	HLA-B	BTK	FCGR3B	C4A	CD79A	PRTN3	TLR4	CTLA4	DNASE1L3	HLA-DPA1	MRTFA	IL10	RFX5	CD19	BLNK	TCF3	SLC35C1	C4B	TNFRSF13B	NLRC4	HLA-DPB1	KLRC4	CFB	CR2	CXCR4	P4HA2	C8B	CCR1	ERAP1	VANGL1	TBK1	CYBB	TNFRSF13C	CD40LG	RAG2	XIAP	IL23R	NCF2	WAS	WIPF1	FAS	PRF1	CYBC1	STAT4	NCF4	C8A	UBAC2	FOXP3	CD79B	SH2D1A
HP_GAIT_DISTURBANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GAIT_DISTURBANCE	LMNB2	NOTCH2NLC	IL12A	AGRN	CHCHD2	RYR1	FLVCR1	ENTPD1	MMADHC	HSPG2	SLC25A4	TGIF1	CEP41	RAB11B	MED27	FAM149B1	PAK1	SELENON	TGFB1	MICOS13	IGHMBP2	ERCC3	EXOSC5	MORC2	SUCLA2	CRAT	MAB21L1	RBM10	GTPBP2	MYH7	TWNK	MT-TK	SMARCE1	REEP2	PDK3	MYF6	MT-ATP6	TECPR2	LAMA2	ALS2	NEFL	COLQ	TRAF7	ASAH1	EIF2AK2	TAF1	EMC10	POLG	LMNA	STAT4	CTNNA2	PLP1	CDON	SYNJ1	ARV1	CIITA	TRIP12	TPM3	GLRX5	TIA1	SH3TC2	NAA10	CAV1	PUS3	FLNC	FUS	SGCG	ATP1A2	RTN2	PDGFB	PSAP	FRRS1L	SLC2A1	ASPA	NOTCH3	NIPA1	FBXW11	CACNA1B	LYST	DDX6	SLC34A3	PPP2R2B	TRAPPC11	TCF20	GRID2	SIX3	UBA5	DUSP6	SLC39A14	EPCAM	TARS1	POLG2	SMS	REPS1	SYT1	CUX2	GBA2	DISP1	RLIM	TERT	FGF8	SOX10	FKTN	NKX6-2	DYRK1A	MYT1L	VAMP1	TCTN2	SNCA	REEP1	ALDH18A1	PRNP	PIK3CA	KCNA1	PLOD1	SPEN	VWA3B	DYNC1I2	ADAT3	DNM2	ADGRG1	DAB1	PNPLA6	DCC	ADCY5	GLUD2	FMR1	COL9A1	FLRT1	VARS1	LAMP2	OFD1	MYPN	COL2A1	ATAD3A	ARSA	QRICH1	CHMP2B	DDHD1	OCA2	CEP104	CSF1R	UBE3A	HPDL	SLC26A2	KIF1A	RUBCN	SPATA5	DCPS	NT5C2	STAC3	RAI1	MTRFR	GAS1	MICU1	DNAJB6	FKRP	COL13A1	BUD23	GTF2E2	DNM1	DPAGT1	BICD2	DNAJC30	PRKRA	ACTL6B	SLC34A1	SPTLC1	PUS7	TLK2	VPS13A	NR4A2	SYNCRIP	HSPD1	KLHL41	ZFTA	AASS	FOXRED1	SLC16A2	DEAF1	RNASEH1	PSEN1	AGO2	HTRA1	EMC1	NOG	CFL2	ERCC8	PDHA1	FGF12	FHL1	CSPP1	DSTYK	MT-ND6	MECP2	ACTA1	PGAP1	EP300	TRPV4	SPTBN1	NECAP1	ABCD1	CLTC	CHST3	PROK2	DOCK3	TFG	PRDM5	HNRNPK	KAT8	CACNA1G	CDK8	GNB1	SGCA	SPAST	PYCR2	APC	SPG7	MKS1	COMP	CACNA1A	VLDLR	KDM4B	WASHC5	SLC6A17	HERC2	SLC6A5	AIFM1	ORAI1	SLC19A3	STAG2	PINK1	GABBR2	NKX2-1	CC2D2A	LRP12	MT-TW	NUP62	KIF1C	NEB	LDB3	DDX3X	TPM2	RNF170	GABRA2	MLH1	CYP27A1	KPNA3	PIGL	CERT1	TNRC6B	SMPD1	EMD	FTL	GABRB3	DNAJC13	ATP1A3	POMT1	PLA2G6	EGR2	EIF2B2	ARG1	SYT2	MFN2	MME	KCNAB2	PPP1R15B	PITRM1	TRPC3	GLI2	SYNGAP1	HCN1	SEMA4A	SMARCB1	SELENOI	ACTL6A	FN1	MSTO1	CAPN3	GAN	CPLANE1	TPP1	SUFU	B9D1	SHH	SLC30A9	PMS2	ELP1	ATXN2	MAPT	MPZ	APP	LONP1	PIGG	GRIA4	NODAL	HS2ST1	TBC1D2B	SRCAP	MT-TT	GMPPB	PIK3R5	SCN1A	NTRK2	VPS16	FGF17	CA8	SCN4A	MT-TS2	UBAP1	KATNIP	PGAP3	BIN1	DNAJC12	KMT2B	KIF7	BAZ1B	ATM	KCNC3	FAM126A	RNF168	AP4S1	ERMARD	MT-ND5	GALC	PANK2	ACOX1	DHTKD1	MT-TV	ATP13A2	BSCL2	GJC2	POMT2	PDE6D	HYLS1	TMEM106B	ATP7B	HTRA2	DCAF8	WDR81	PMP2	OPA1	SCO2	GBA	LPIN1	ARL3	ASXL3	ATN1	INTS1	B4GALNT1	MT-CO1	TANGO2	SEC31A	ADSL	SLC25A15	FUZ	TK2	PDYN	MED12	ERCC6	DAG1	EIF2B3	IQSEC2	CLIP2	TRIM2	ACAN	PRKCG	MPV17	FAS	GTF2IRD1	TMEM67	OTUD6B	ATXN10	CCDC88C	DALRD3	SACS	COA7	WNT1	CWF19L1	ITPR1	PARK7	AP4B1	SDHA	MT-ND3	FXN	GTF2I	TBCD	ABCA2	TIMM8A	ATXN3	WARS1	PRPS1	SUCLG1	SZT2	AP2M1	BAP1	SATB2	HLA-B	NHLRC1	MPLKIP	SLC25A1	TAFAZZIN	ATP7A	MT-TH	YY1	FOXH1	TMEM240	SYNE2	COL6A2	GALT	KY	NTRK1	FA2H	RNASEH2C	SBF2	FDX2	PACS2	TBCK	TDGF1	PLEC	AIMP2	SLC18A3	RPS20	MAPK8IP3	NTNG1	ZEB2	TRAPPC2L	CHD7	LYRM7	C19orf12	TMEM107	COL9A3	WDR26	ATP10A	PMP22	SQSTM1	TH	NPHP1	MT-CO2	CCN6	FLRT3	PRDM16	CEP120	DOK7	DES	ARID1B	GYG1	CYP2U1	POU3F4	CCDC32	TUBB4A	HK1	PDE2A	FCSK	CAMTA1	ALG14	TDP1	CHKB	PRKAR1B	CHD2	ASXL1	ERLIN2	RERE	IBA57	SPEG	TMEM251	TLR4	LNPK	EEF1A2	TGFBR2	ERBB3	KCNA2	WWOX	SLC25A46	EIF2B5	MARS1	SIM1	PNPLA2	KRAS	KIAA0753	ATP8A2	ELN	CPT1C	CLDN11	COQ2	RFX5	PGAP2	NTNG2	TCAP	ABHD5	CYP2R1	CCDC141	PDE10A	ELOVL4	TBC1D20	ANO10	PPP3CA	ZBTB20	CDK10	RFXAP	PODXL	GBE1	GLRA1	SCYL1	APOE	CDKL5	VPS13D	IFNGR1	PMPCA	VPS41	RAB39B	RRM2B	THRA	SAMD9L	DNA2	COASY	GRIA2	EPM2A	BMPR1A	ANO5	EIF4G1	FAN1	POMGNT1	PRKN	GJB1	ARL13B	SYNE1	CHRNG	MTTP	DYM	TMEM222	GRIN1	SURF1	SATB1	DNAJC3	PEX6	SDHAF1	IL23R	DCTN1	PURA	SETX	SNRPN	DYSF	NAT8L	AP3B2	GNPTAB	MLXIPL	ACTN2	CAMK2B	LCA5	XRCC4	DNAJC6	GRN	SGCB	GRM1	TYROBP	NOP56	RNU12	TACR3	ATP6V1A	BEAN1	UQCRQ	SLC39A8	VPS33A	SLC7A6OS	C9orf72	KLHL9	HADHB	ELOVL5	NUS1	NF2	PDE8B	CCT5	DLAT	DLL1	UBE4B	SCN8A	ARCN1	SLC20A2	KIF5A	VCP	SNAP25	IDH1	BBS1	AKT1	AP1S2	TANC2	COL9A2	RNASEH2B	LAMB2	BCAS3	ATXN8OS	PIGV	SMC1A	CAMK2A	PLEKHG5	GPHN	DHPS	TBC1D23	MYOT	MMP23B	GDAP1	NUBPL	TMEM237	FARS2	GTF2H5	AMPD2	MEF2C	COL12A1	WNT3A	ALDH4A1	VAMP2	CIZ1	SAMHD1	GABRG2	COL10A1	CRPPA	PI4KA	HTT	KBTBD13	DPYD	PABPN1	TGM6	ZFYVE27	ZIC2	PCNA	PPP2R5D	ATL3	INPP5E	HESX1	CLN5	CBY1	STX1A	ATP6AP2	ATL1	TRAK1	ADAR	CYP27B1	NEU1	MTHFR	USP9X	SLC25A19	HINT1	SLC9A6	ZFR	CAPN1	SPTBN2	MAFB	GTF2IRD2	ADH1C	DMD	PIGO	MT-ND2	LUZP1	LARGE1	TRMT10A	KCNJ10	KLRC4	HSPB3	LMNB1	SHMT2	JAG2	TREX1	PLEKHG4	CARS1	GABRD	SKI	PTH1R	FGF14	SPRY4	PPP1R21	VAC14	MAPK10	ATP5F1D	MT-TQ	TBP	JARID2	CYP7B1	IL12A-AS1	MYO9A	EED	MT-TE	SLC9A1	BRAT1	CCDC28B	STUB1	CHCHD10	SMG8	MGAT2	FBXO38	INF2	PLD3	GABRA1	EIF4H	JAG1	PIGW	MMP13	TPI1	ERAP1	EBF3	RSPRY1	LRP5	RPL10	FGFR1	CASK	LRP4	LRSAM1	MT-ND1	DOCK7	SLC18A2	HPCA	SERAC1	IFIH1	PTPN23	MTR	GOSR2	SNX14	FKBP10	SMARCAL1	GFPT1	SHANK3	STIL	MT-TF	HS6ST1	SCN2A	COPB1	TKFC	CRYAB	CPLX1	CHAMP1	WDFY3	MTRR	NDRG1	PTCH1	SPG21	MRE11	TELO2	GLB1	ZSWIM6	RAB7A	BCORL1	MT-TL1	GNE	NRXN1	MARS2	HSPB1	METTL27	SYT14	GABRB2	CREBBP	MTPAP	LRRK2	FLNA	RELA	DYNC1H1	FAR1	PDHX	PRX	GCH1	SLC1A2	MAN2B1	DHX30	NGLY1	AARS1	VPS13C	SNORD118	B3GALNT2	KMT2E	MSH2	ATAD1	FKBP6	RNF113A	KCND3	DHH	SLC33A1	ERBB4	ERLIN1	ZFYVE26	GOT2	PEX10	ZNF469	TCF7L2	BCL11B	SIL1	VPS37D	POC1A	GRIN2A	C4A	GABRA5	RARS1	PTS	SLC25A21	L1CAM	TCF4	SCARB2	TNR	CNKSR2	PARS2	TTN	LMX1B	COL6A1	AP4M1	CLCN4	SLC30A10	SETD1A	RNASEH2A	RPS6KA3	RFC1	GARS1	CANT1	EEF2	TBR1	MTOR	PIEZO2	PCDH19	TBC1D24	MATN3	PNPO	MAN1B1	PRKCZ	OPA3	GMPPA	VPS51	THG1L	HNRNPA2B1	EIF2AK3	GPAA1	GLRB	TNPO2	PPP2R1A	MTMR14	CUL4B	VDR	PEX2	UBAC2	TTBK2	AP5Z1	MTM1	DKK1	HLA-DQB1	PACS1	UBE4A	INPP5K	SLC1A4	CHAT	ARL6	ALAD	NDUFS8	AOPEP	PIGS	FDXR	ACBD5	SLC39A13	MT-CO3	HERC1	KARS1	PDPN	CCR1	BVES	PRRT2	ERCC4	ERCC2	EXT2	TOR1A	ANKRD17	TRIM32	MBTPS1	TMEM43	HSD17B4	TMEM216	GSX2	CELF2	USP7	COA8	SDHB	DNAJB2	CLN8	RFXANK	WDR45B	EPRS1	LTBP4	TCTN3	SVBP	RPGRIP1L	YWHAG	PNPLA8	UNC80	MATR3	HACE1	MT-ND4	KIF1B	GEMIN4	SPG11	SLC35A2	SGCD	WASF1	FGF13	SLC35C1	KCNA4	COX6A1	ALG2	PDGFRB	DHDDS	EXTL3	ARSI	SPART	SLC12A5	CHD3	HARS1	TREM2	ZMIZ1	MYO1H	TRMT1	GIPC1	DNM1L	FBN1	LRAT	KIDINS220	CP	NCF1	GPT2	MRPS34	SCN3A	WDR48	TRIO	AHI1	SBF1	PREPL	MMP2	TOP3A	PEX5	GRIK2	SCN9A	CTBP1	MAP3K20	ZMPSTE24	NDNF	ST3GAL3	EIF2S3	ARL6IP1	TSEN15	DPYSL5	NACC1	GLE1	CHD4	SPTLC2	RHOBTB2	IQSEC1	LMOD3	STRADA	KCNMA1	APTX	DARS2	BCL7B	MYH3	KCNB1	PPM1D	MDH2	BPTF	FIG4	TOPORS	MED25	TSPOAP1	AP4E1	NARS1	KIAA0586	GNB4	GRIN2D	MAGEL2	FGD4	MAP1B	NEXMIF	MFF	PIGP	EIF2B1	EIF2B4	FBXO7	TACO1	GBF1	SIGMAR1	DDHD2	MLH3	CLN3	PTEN	SLC6A1	SLC12A2	RFC2	SLC17A5	UBR7	PROKR2	SLC5A7	MCOLN1	ATCAY	COQ5	AFG3L2	COL6A3	LRPPRC	DPM3	SLC2A3	CYFIP2	FLII	HNRNPH2	GIGYF2	SLC13A5	RNF2	CLIC2	CNOT3	NDUFAF6	SDHD	KCNQ5	KMT2A	KLC2	XRCC1	NBEA	CACNA1E	TTPA	WDR11	CAD	HSD17B10	ATP1A1	USP8	IFRD1	KCNQ2	PSMD12	MED13	GDAP2	HADHA	LIMK1	CLCN3	MECR	INTS8	PIBF1	JPH3	LARS2	POPDC3	FEZF1	TCTN1	AR	RPE65	SMO	SNCAIP	PAX7	KAT6A	KDM5B	RNF125	CDK19	UBTF	C12orf4	ERCC1	CHRND	ATXN1	NOL3	MEFV	SORD	PDP1	SEMA3A	MADD	ADSS1	PALS1	GEMIN5	MAST1	TUBB3	NPR3	CLCN2	MBOAT7	IL17RD	STXBP1	VPS37A	GNB2	ANOS1	TBL2	NEFH	UFSP2	RIC1	TUBB2B	ARX	ALPL	THOC2	TMEM270	RANBP2	IL10	FAT2	KDM5C	PMS1	ATP2B3	OPHN1	SPATA7	CASZ1	LMBRD2	HNRNPA1	MTFMT	P4HTM	MYH2	ARMC9	MSH6	MFSD2A	WARS2	GFM2	SLC6A8	NPC1	CACNA2D2	SCN1B	IKBKG	GJA1	UROC1	VPS35	PKP1	AGTPBP1	CFAP43	MARCHF6	MCM3AP	NEUROD2	UCHL1	HUWE1	PIGY	TRAPPC4	MIEF2	ZC4H2	DHX16
HP_CONFUSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONFUSION	TLR3	IL12A-AS1	SLC22A5	HLA-DQB1	IL12A	PSEN2	CACNA1A	PSEN1	IFNGR1	MT-TE	MEFV	CDKN2B	SLC2A1	HMBS	MEN1	ABCA7	GNAS	ALAD	EPM2A	C4A	ERCC3	TLR4	NAGS	TOMM40	SLC19A3	SLC25A13	IL10	ERCC2	DNMT1	NOTCH3	RYR1	TBP	MMACHC	ERCC4	PRNP	CDKN1A	FIG4	ATP1A2	KLRC4	POLR3A	SLC25A15	HLA-B	NHLRC1	PRDX1	CHRNA2	ABCD1	CCR1	ERAP1	TBK1	CDKN1B	ERCC5	CPOX	CUBN	ATP13A2	IL23R	SCN1A	MAN2B1	PRDM8	CDKN2C	PRRT2	ALDH4A1	SORL1	FAS	TREM2	APP	STAT4	UBAC2	HADH	ADAMTS13
HP_GENERALIZED_HYPOTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_HYPOTONIA	RERE	KCNQ2	PRODH	MYO5A	DCPS	ZEB2	EED	NCDN	NDN	MACF1	EXOSC3	MGAT2	DPM2	STT3A	SYNGAP1	OTX2	FLVCR1	PLA2G6	SLC25A4	PNP	RAB11B	PTCHD1	ATXN1	TRIP12	PHF21A	FAM149B1	PAK1	SELENON	ERCC3	SIX3	EXOSC5	CTU2	SUCLA2	CRAT	RBM10	LIFR	GTPBP2	FH	PTCH1	TPI1	TWNK	ISCA2	TECPR2	CLCN7	SLC2A10	MYF6	SLC5A7	EBF3	RSPRY1	TRIP4	GMPPB	PACS1	DLD	NSDHL	GNB5	STT3B	POLG	PRF1	TOGARAM1	SLC18A2	ADK	DIAPH1	MARS2	MITF	SERAC1	CTNNA2	CHST3	CC2D1A	ARV1	CLP1	RAC1	EHMT1	PSAP	TPM3	TIMM50	MED25	MTR	GLRX5	SNX14	NAA10	B4GALT7	DBT	SOX2	PUS3	COQ9	FMN2	CRPPA	SLC46A1	POU3F3	GFPT1	EFEMP2	ATP1A2	SHANK3	MED13L	SLC33A1	SKI	SMARCA4	PHKB	FRRS1L	NODAL	STIL	PLP1	CPLX1	KDM6A	CHAMP1	TCF20	BRAF	RAI1	MTRR	TRAPPC11	D2HGDH	CD96	RMND1	GRID2	LMOD3	UBA5	IFT81	NDUFAF2	PEX3	TMEM94	RNASEH2C	TARS1	POLG2	AMT	REPS1	GABRA5	ZSWIM6	CEP41	NPHP1	CSPP1	TUSC3	NRXN1	SUFU	TMEM63A	GNB1	GABRG2	KCNN3	KATNIP	NPAP1	ALDH6A1	GALNT2	DHCR7	GABRB2	NPC2	CREBBP	PTRH2	BCOR	CLCNKA	TGIF1	STAMBP	NSUN2	RPS6KA3	NKX6-2	NKX2-1	TCTN2	FASTKD2	PBX1	DNMT3A	ETHE1	DYNC1I2	DNM2	LONP1	ALDH7A1	GABRA2	PRX	COL13A1	PRKD1	ATP7A	NDUFA13	MIPEP	KCNMA1	WNK1	VPS13B	OXR1	SNRPN	GBE1	C2CD3	SLC1A2	MAN2B1	KCNH1	VARS1	KCNA2	DHX30	FKTN	ARFGEF2	GALE	FARSB	AARS1	NUP214	OFD1	TDGF1	MYPN	ARSA	SLC52A2	COL1A1	COL2A1	BMP1	UBE3B	KIF14	ACY1	CYP24A1	PIGB	SYNJ1	COL1A2	PEX5	ACTL6B	SNIP1	CAMK2A	KCNK9	USP18	HADH	MAGEL2	NDUFA12	ATP6V1A	DNM1	DPAGT1	DMD	MSL3	RNU4ATAC	PHIP	ELAC2	TLK2	B4GALT1	LGI4	BCL11B	SIL1	DISP1	TDP2	SLC25A42	TUBA1A	KLHL41	RETREG1	LRP5	ASCC1	POC1A	FOXRED1	RNF13	IARS2	ARL13B	FKRP	CCDC78	ST3GAL3	KIF5A	CEP104	OSGEP	MMAB	PIGT	CFL2	GNAI3	SNORD115-1	ATP1A3	LRRC32	CNKSR2	MED23	PARS2	NFIA	SHH	ACTA1	EP300	KDM3B	NECAP1	PEX12	CLTC	TELO2	DOCK3	ECHS1	GPX4	EMC1	MAPRE2	IFIH1	TAF1	AHI1	PDE6D	SOX5	COG4	ACTB	IARS1	COX4I1	CDK8	FARS2	CACNA1A	STAG1	PIGK	SERPINH1	TNFRSF11A	CANT1	KDM6B	APC	TTN	UFM1	YIF1B	TPM2	ATP6V1B2	BSND	MYL2	TBR1	TRIT1	NOVA2	PIEZO2	VLDLR	INPP5E	ACACA	AP1S2	HERC2	EBP	HSPD1	PIGG	CTBP1	DDOST	KCNT2	RYR1	CNTNAP1	SDHA	OSTM1	SPRED1	MMADHC	CHRNE	PSMD12	COL12A1	KBTBD13	CEP290	MTM1	MPZ	TRAPPC9	GAS1	TMEM216	ALG12	TRMT1	PIGN	TBC1D24	GMPPA	VPS51	DDX3X	HIKESHI	TMEM199	ZNF148	PPP2R1A	PPP2R5D	NDUFA10	NDUFB3	KMT2C	MTMR14	ALPL	CUL4B	VDR	PEX2	MCCC2	EN1	AP3B2	EGR2	ARID2	GM2A	GABRB1	ADNP	EIF2B2	ATXN2	NUP133	INPP5K	SLC1A4	SLC25A26	MKS1	INPPL1	SPTAN1	VIPAS39	MAG	CBL	COG1	ATP6V1E1	COL6A3	SCN1B	COLQ	HCN1	NDUFS8	C19orf12	SMS	PIGS	MTFMT	GAN	HEPACAM	TANC2	MSTO1	CPLANE1	TK2	SGCE	DYRK1A	TP53RK	BCKDHB	TRMU	NDUFS1	UBR1	LINS1	NDUFA6	HERC1	FGF8	ITCH	SLC9A7	MAPK1	HIVEP2	ERCC2	TMEM106B	MT-TE	SUZ12	UBE4A	AIFM1	EXT2	EZR	LTBP4	SLC12A2	NALCN	TGFB1	RSRC1	DPYD	NEB	POGZ	KMT2E	SLC1A3	ACAD9	ACTN2	AP1S1	MPI	KIAA0586	CELF2	NTRK2	PHF6	UBE3A	HSD17B10	COA8	SDHB	KCNT1	SPTBN4	PC	CHAT	NDUFV2	VRK1	PMP22	SPEG	UGDH	MORC2	CNOT3	BIN1	CIC	KIFBP	DNAJC12	RPL10	TUBB	PEX6	MPDU1	STXBP1	DGUOK	ASXL2	KIAA1109	KIF7	ALG13	MPC1	RFT1	HTRA2	KCNC3	CD59	BCORL1	CHD1	TXN2	SIN3A	ARHGEF2	ATP5F1A	SLC45A1	TCTN3	B3GALNT2	CTCF	KDM5B	PNPLA8	POMT1	GRIK2	PRUNE1	UNC80	CRADD	GLUL	RPGRIP1L	STRA6	MRPS22	CHST14	MED12L	ALKBH8	ACAT2	C12orf57	ASXL3	RORA	FGF13	TANGO2	SLC35C1	GAA	MMUT	NFIX	ADSL	SLC25A15	MAN1B1	FOXG1	FOXH1	ALG2	EPG5	CCDC115	DHDDS	NDUFAF5	EIF2B3	DAG1	DDX11	ODC1	TRIM2	NDUFS3	MN1	EXTL3	TMEM237	GTPBP3	TRAPPC6B	OTUD6B	ATXN10	RET	DALRD3	GABBR2	CHD3	ACADSB	NAXE	MPV17	SZT2	ALDH18A1	FLCN	PDHA1	CWF19L1	MAMLD1	OGDH	MRPS34	SCN3A	MAPK8IP3	FBXO11	BCKDHA	KDM1A	DOCK6	RPS23	TUBB2A	PEX19	TOR1A	AMER1	ADCY6	NDUFS7	SET	ATAD3A	MPLKIP	PREPL	IGF2	ALG1	LIAS	MAP3K20	ARHGAP31	MTRFR	KANSL1	HPRT1	DDR2	BRPF1	GTF2E2	NEU1	EDN1	EIF2S3	MYO18B	TSEN15	NACC1	YWHAG	C12orf4	ERF	AGK	FDX2	GLE1	TSFM	CHD4	SLC25A24	PACS2	LRPPRC	SMC1A	FUT8	RHOBTB2	IQSEC1	COX6A2	SGPL1	SLC18A3	STRADA	ALAD	IRF2BPL	GCDH	SMG9	ARID1A	PEX14	KCNB1	KIF1A	PDHB	TRNT1	MYOD1	PPM1D	LYRM7	CUX1	TCF4	TMEM107	MKRN3	HNMT	PMM2	TASP1	NEPRO	SLC17A5	HACE1	TOPORS	BPTF	TH	MED12	SUOX	BTD	AUTS2	PIGV	TSPOAP1	ZIC2	TRMT5	NARS1	MTOR	IQSEC2	LMAN2L	TRMT10C	PRNP	NSD2	B9D1	NDUFB8	CPT2	GRIN2B	COL6A2	GRIN2D	FAT4	CDK13	ALG9	PRMT7	FCSK	UQCC3	GCSH	ALG14	SCO2	EIF2B1	EIF2B4	DMPK	SLC22A5	VPS33B	DHFR	CAMK2G	PEX10	MRE11	POLR2A	DNM1L	CLIP1	NDUFB9	TRRAP	ASXL1	SCN8A	CNOT1	USP9X	LNPK	ASH1L	EEF1A2	WASHC4	PRKCG	MICOS13	PGAP1	SLC35A3	TKT	SLC25A46	EIF2B5	PNPLA2	PRPS1	BUB1B	KIF22	PRDX1	KIAA0753	TMEM67	ELN	PPT1	SMARCC2	TARS2	TOE1	ATCAY	NAA20	CPT1A	GPAA1	FARSA	TECR	FBXO31	CEP120	TSHB	CYP2R1	TBC1D20	PPP3CA	NONO	CDK10	NDST1	KCNJ10	NFASC	ADARB1	PCBD1	MRPS28	BMPR1A	PPA2	PRSS12	CYFIP2	SLC34A3	PIGL	LAGE3	HLCS	POMGNT1	RRM2B	FLAD1	ZIC1	SLC13A5	MMAA	DNA2	KAT6B	ELP1	PPP1CB	SPTBN2	PEX13	COG6	METTL23	PEX1	ARX	CHRND	GPT2	WAC	HEXA	ZNF462	EDC3	EXOSC9	GRIN1	RLIM	GABRB3	PUS7	SDHAF1	NDUFAF6	SDHD	KCNQ5	KMT2A	BCS1L	SNORD116-1	WASF1	NAT8L	AMMECR1	CAD	ITPR1	MOGS	NDUFAF4	MLXIPL	SOX9	ADAM22	ABCD4	ZBTB18	CDKL5	PGAP3	CAMK2B	NRAS	PIGC	CDON	ZC3H14	TSEN2	BOLA3	FBXW11	RARS2	LARGE1	UQCRQ	SLC39A8	CNOT2	KCNK4	GNE	PUF60	CYP11B2	SARS1	KMT2D	FBP1	NUS1	SIX6	PTEN	AHDC1	CSF1R	SLC35A1	LAMA1	USP7	PAX7	TBCE	KAT6A	NEMF	CASR	CDC42	PGAP2	HUWE1	RNF125	IDH1	COL6A1	SLC12A6	CDK19	FOXP1	PGM3	AP3D1	NDUFV1	MRPS2	WDR26	CHMP1A	SARS2	MCOLN1	PAX8	SC5D	NOTCH3	METTL5	PDP1	POMT2	SHOC2	GNPAT	CACNA1C	PMPCA	NANS	POU1F1	CSNK2B	MCCC1	TET3	PEX16	MAST1	B3GALT6	ST3GAL5	CTNNB1	SURF1	ERCC6	CLCN6	MYMK	MBOAT7	TBC1D23	ADAT3	POLR3A	KPTN	PLCB4	COQ8A	PIK3CA	ACADM	SLC7A7	NAGA	AGA	GTF2H5	DPM1	HDAC8	CRBN	PMPCB	TMEM165	GRM7	ACP2	CACNA1B	TTC5	GNB2	HNRNPU	MEF2C	STAG2	GNAO1	PNPT1	CLCNKB	PTDSS1	SLC13A3	LARS1	PWAR1	GLDC	TRAF7	QARS1	WWOX	ABCC8	TNIK	LRRK1	SMARCB1	DCHS1	MVK	FGFRL1	SCN9A	CYP27B1	SPECC1L	FBXL4	OPHN1	GPHN	HCFC1	COX6B1	CCDC47	LMBRD1	PPP2CA	PLEKHG2	NCAPG2	PUM1	MMACHC	PET100	HNRNPK	SCO1	SSR4	HECW2	B3GAT3	UFSP2	SETD2	CNTNAP2	SRD5A3	SLC25A10	CCDC22	ALG8	HADHA	SFXN4	TRAK1	EFNB1	ACADS	RNF113A	ARL3	COLGALT1	TMEM70	SLC9A6	MT-TN	P4HTM	NGLY1	GARS1	ZNHIT3	GLI2	MTX2	SYNE1	NDUFA11	PIGH	ANK3	DLL1	MFSD2A	POMGNT2	YME1L1	SLC6A8	SPART	FGF12	LETM1	NPC1	TRPS1	CLCN4	SETD1A	PWRN1	AIMP1	COQ7	BMPER	ATP6V0A2	COX15	AGTPBP1	ZC4H2	VARS2	EZH2	AP2M1	CSNK2A1	SOX4	TPK1	SLC25A20	MCM3AP	ALDH5A1	ATIC	UBA1	MYH7	COG7	COX10	DEAF1	HIBCH	WASHC5	ATPAF2	MTO1	DPF2	AP1G1	NARS2	MLYCD	DHX16	MANBA
HP_ABNORMAL_CRANIAL_NERVE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CRANIAL_NERVE_MORPHOLOGY	MYO9A	AGRN	CDKN2B	CLCN4	HK1	COL6A1	TCIRG1	KLHL41	DES	CHRNE	SLC25A11	COL6A2	ALG2	MTMR2	ADSS1	ANKH	CDKN1A	MPZ	ABCA1	TGFB1	AMER1	ADCY6	BAP1	SUCLA2	SLC25A4	BIN1	SLC25A1	EYA1	TWNK	SMARCE1	MTRFR	DNMT3A	NF2	OTX2	SLC5A7	DLST	GDF6	BMS1	USP8	COLQ	TRAF7	CHD7	ASAH1	SLC29A3	POLG	LAMA2	LARGE1	PEX5	SEMA3E	GLE1	OSMR	SLC52A3	TPM3	CA2	SH3TC2	CDH23	PLEC	ACTA1	MEOX1	LMOD3	SLC18A3	GFPT1	NEFL	ARHGEF6	RYR1	KY	MTMR14	IQSEC2	FKRP	CRYAB	HRAS	COL6A3	GJA1	MYH7	GJC2	ADA2	CHRNB1	ZNF711	POLG2	KIF1B	DOK7	CHRNA1	SCN1A	GNE	HOXB1	RAPSN	TERT	POMT1	PDGFB	USP9X	VHL	ALG14	PIK3CA	TPM2	DMPK	CHKB	BAG3	PEX11B	COL13A1	MUSK	SPEG	TUBB6	SDHAF2	FKTN	MYPN	SLC52A2	DCTN1	DLG3	BICRA	MYMK	SOST	DNM2	SELENON	CLCN7	RET	GDF3	LRP5	BTNL2	DNAJB6	PEX6	FRMPD4	CNTNAP1	RAB39B	PI4KA	TK2	REV3L	DPAGT1	SDHB	NOD2	ATP1A2	NEB	TNFRSF11A	SNX10	COL4A1	AGTR2	PEX14	CRLF1	CFL2	PTDSS1	CHRND	ZFHX4	EGR2	KLHL40	TRPV4	PEX13	PEX19	ADGRG1	DNA2	TUBB3	COL25A1	USP27X	TMEM127	PLXND1	ZNF81	PAK3	MECP2	HLA-DRB1	SDHD	NF1	PLEKHM1	SUPT16H	LRP4	MYL2	PEX1	VCP	FRG1	RRM2B	MGME1	SRPX2	COCH	TRIM32	ZNF41	SLC19A3	GDI1	FTSJ1	GSN	TFAP2A	LRP12	KBTBD13	SCN4A	HNRNPA2B1	TTN	ITGB4	SIX1	ANO5	SLC9A7	SNAP25	SMO	SALL4	PTRH2	SLC12A6	CNKSR2	AKT1	PRRX1	FGF3	DKK1	SYT2	LAMB2	POMT2	CHAT	DMD	SLC39A14	ACSL4	SMARCB1	GAN	CAPN3	MDH2	SYP	CACNA1A	KARS1	SUFU	TNFSF11	PEX2	SQSTM1	TSPAN7	SPRED1	PRNP	MED12	PRRT2	PEX16	CRPPA	IL1RAPL1	PABPN1	VAMP1	MEGF10	SPTBN4	PEX12	GMPPB	CHCHD10	MID2	SMCHD1	CDKN1B	ACADS	PUF60	DLL4	SDHC	ARX	ALG13	STEEP1	MTM1	HNRNPA1	CLCF1	TFG	COL12A1	UBA1	MEN1	YME1L1	PEX10	PEX3	SCO2	MAX	FH	UPF3B	SGCD	RPS6KA3	PEX26	ZC4H2	SHMT2	PTCHD1	SDHA	AK9	CDKN2C	EPAS1	GNAQ	NARS2	SIX5	HCFC1
HP_CRANIAL_NERVE_COMPRESSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRANIAL_NERVE_COMPRESSION	NF1	SNX10	DKK1	PLEKHM1	CA2	RET	COL4A1	CLCN7	CDKN2B	CDH23	MEN1	TCIRG1	SDHAF2	SLC25A11	MAX	VHL	FH	TGFB1	SH3TC2	CDKN1A	MDH2	SDHB	CACNA1A	TNFSF11	HNRNPA2B1	KIF1B	DNMT3A	SDHA	CDKN1B	DLST	USP8	SCN1A	TMEM127	SDHC	CDKN2C	VCP	EPAS1	PRRT2	SDHD	ATP1A2	HNRNPA1	TNFRSF11A
HP_STROKE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STROKE	FLNC	MT-TW	CALR	MLXIPL	MT-ND6	TGFBR1	MYBPC3	COL4A1	APP	MAT2A	TNNT2	TBX20	HTRA1	MT-TL1	SMAD4	MT-ND5	GTF2I	ACTB	ABCC6	MT-CYB	MT-TV	NCF1	SMARCAL1	MYH11	NPPA	PNP	LIMK1	XYLT1	EIF4H	ACTG1	GNAQ	NKX2-5	MTHFR	PRKCH	MT-TH	ZMPSTE24	SLC2A10	THSD1	BRCC3	USP8	TET2	MT-CO1	MPL	KIF20A	TNXB	TGFBR2	MT-ND1	LMNA	DPAGT1	MFAP5	TNNI3	VHL	SMAD3	CDH23	SCN5A	BCL7B	SH2B3	MT-TF	STIM1	GUCY1A1	NOTCH3	AMACR	TGFB2	PIK3C2A	ACVRL1	MMACHC	PMM2	MT-CO3	NF1	F2	ADA2	GATA4	NOS3	XYLT2	CITED2	COL3A1	MT-CO2	JAK2	SLC19A2	PRNP	GNB2	OTC	TGFB3	JAG1	PRKAR1A	TLL1	KCNQ1	METTL27	ASS1	TBL2	TANGO2	FHOD3	PIGA	MYD88	CST3	ENG	MYPN	LOX	B3GALT6	RNF213	HBB	ACAD9	ELN	TGFBR3	TMEM270	CCM2	SNAP29	MT-TC	RFC2	TREX1	MT-TS2	PRKG1	NAGS	FKBP6	ACTA2	STX1A	GLA	TPP2	GDF2	THPO	BAZ1B	AGXT	SON	BUD23	WFS1	LRPPRC	FBN1	DNAJC30	ERCC8	MYH6	ACTC1	ENPP1	KRAS	PCNT	HSD11B2	GTF2IRD2	TTR	VPS37D	MMUT	GATA6	SMAD2	GYS1	CBS	TP53	FOXE3	ANGPTL6	NDUFA8	MYLK	MECP2	ALOX5AP	ZAP70	ERCC6	FLNA	MT-TQ	DYRK1B	HEY2	MT-TK	CLIP2	MT-ND4	NR3C1	F5	GTF2IRD1	RFT1	DPM3	CPS1	ADAMTS13
HP_ENCEPHALOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENCEPHALOPATHY	KCNQ2	ACY1	NAXE	CNPY3	SZT2	TBCK	DPM1	DPM2	CCDC88A	DOCK7	SYNGAP1	ATP5F1A	NDUFV1	MT-ND5	TBCD	KYNU	SQOR	SCN3A	MT-ND3	WDR45	SUCLG1	GABRB2	NTRK2	TCF4	AP2M1	NDUFS7	MTHFR	SUCLA2	CPT2	GRIK2	LIAS	MT-TH	MT-TK	NDUFS6	RANBP2	XIAP	RNF13	DLD	MT-CO1	NDUFAF1	ST3GAL3	MT-ND1	ATG7	GBA	GALT	CLCNKB	NADK2	NDUFAF3	SLC6A9	YWHAG	NDUFS1	SERAC1	ACADS	GLYCTK	TSFM	ARV1	PACS2	COQ9	NDUFS8	ATP1A2	MT-TF	GCDH	CACNA1A	GALC	KCNB1	FRRS1L	LYRM7	SLC2A1	IBA57	NOTCH3	NDUFS2	CPLX1	SERPINI1	MT-ND6	AMACR	SYNJ1	CACNA1B	MDH2	ALMS1	STAT2	ITPA	MMACHC	RNASEH2B	NDUFB10	D2HGDH	UBA5	TH	NDUFAF2	RNASEH2C	TIMM50	MT-CO2	NAXD	AMT	TSPOAP1	CUX2	MT-TL1	FBLN1	NRXN1	TIMMDC1	GABRG2	GRIN2B	HMGCL	GRIN2D	ALG9	NEXMIF	HADH	FCSK	FADD	PIGP	GCSH	ETHE1	SLC22A5	CHD2	DNM1L	ATP1A3	NDUFAF4	SCN8A	NECAP1	SLC1A2	LIPT2	SLC6A1	EEF1A2	MT-TC	KCNA2	AARS1	COG8	CYC1	CARS2	SLC25A13	CLPB	SLC25A15	PCCB	ACTL6B	HIBCH	CPT1A	ROGDI	COQ5	SCN2A	PPP3CA	DNM1	MT-CYB	SH2D1A	ARX	CYFIP2	PTPN23	GRIN2A	PCCA	SLC13A5	ATAD1	GABRA5	PLCB1	GPT2	FGF12	SCN1A	TBC1D24	CNKSR2	PARS2	MECP2	ZNFX1	GRIN1	CLTC	NBAS	TUFM	GABRB3	GNAO1	KCNQ5	MT-ND4	BCS1L	AP3B2	CACNA1E	PNPO	CAD	MT-TW	NDUFB3	RINT1	NDUFA1	HSD17B10	NDUFB9	ADAM22	NDUFAF5	CDKL5	TRIT1	HTRA1	BOLA3	MT-TV	PNPT1	TRAK1	FOXRED1	SLC19A3	SMARCAL1	KCNT2	PSAP	ATP6V1A	NSF	NUS1	PCK1	COX16	GABRA2	SLC25A20	EIF2AK3	SLC35A1	PHACTR1	DCX	NDUFAF8	TBCE	CDK19	DPAGT1	GABRB1	MT-ND2	SLC35A2	SLC12A3	SPTAN1	TSEN54	SLC25A1	SCN1B	HCN1	ARHGEF9	MT-CO3	ATAD3A	PMPCB	TMEM126B	SLC25A22	BSCL2	HNRNPU	MEF2C	NDUFA6	ACAD9	ALDH4A1	GLDC	ASNS	GABRA1	UGT1A1	WWOX	AFF3	TGFB1	KMT2E	NDUFS3	FBXL4	STAG1	NDUFB11	SIK1	CELF2	KCNT1	SEMA4D	MT-TS2	NDUFV2	GLS	NDUFS4	NAGS	UGDH	PAFAH1B1	STXBP1	DGUOK	MPC1	CLP1	COQ2	ACSF3	SLC25A12	TMEM70	ACOX1	ZNHIT3	NDUFA11	COQ4	TWNK	TRAPPC12	UNC80	GPR35	DENND5A	GLUL	CACNA2D2	CLCN4	MST1	GUF1	RYR1	FGF13	COX15	TK2	PIGA	TREX1	NEUROD2	DHDDS	MT-TQ	MAPK10	ATP5F1D	MDH1	PRNP	NUBPL	DALRD3	GABBR2
HP_PARKINSONISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARKINSONISM	ATXN8OS	SLC6A3	FBXO7	PARK7	GABRG2	PRKAR1B	MAPT	MECP2	SNCA	POLG	PSEN2	ALS2	SPTLC1	SIGMAR1	EIF4G1	GCH1	PLA2G6	VPS13A	TAF1	MT-TT	ABCA7	TARDBP	PCBD1	COQ2	CLN3	ATP6AP2	GLUD2	CP	FMR1	TWNK	ATP1A3	CHCHD10	CHMP2B	VCP	PCDH19	WDR45	GABRA1	TBP	TREM2	PTS	VPS35	SYNJ1	KIF5A	PRKRA	XPR1	APOE	PSEN1	DNAJC12	JAM2	SCN9A	PDGFB	MYORG	GBA	JPH3	GRN	C9orf72	HFE	CYP27A1	ATP13A2	FUS	CAT	SLC20A2	C19orf12	LRRK2	UQCRC1	SLC18A2	GIGYF2	DCTN1	PDE10A	PLAU	SNCAIP	SNCB	AFG3L2	FTL	MPO	PANK2	DNAJC13	TK2	AP5Z1	APP	HTRA2	PPP2R2B	TRPM7	TBK1	ATXN2	NR4A2	SQSTM1	SPG11	ADH1C	EIF2AK2	TH	RAB39B	COASY	PDGFRB	UBTF	DNAJC6	SCN1A	SCN1B	LYST	SCN2A	TOMM40	STUB1	AOPEP	NOTCH3	PINK1	TNR	PRNP	PRKN	SLC39A14	PSAP	DNAJC5	ATXN3	TSPOAP1	TMEM240	UCHL1	TMEM106B	SLC30A10	SORL1	VPS13C	NOS3
HP_PACHYGYRIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PACHYGYRIA	FKTN	TRIM8	CRPPA	DCHS1	B3GALNT2	GFM2	PEX10	RTTN	NEUROD2	PIK3R2	TBR1	MACF1	TMX2	CEP85L	PIK3CA	ETFDH	CCDC88A	ASPM	VLDLR	RAB3GAP1	SRPX2	FIG4	CENPJ	SCN2A	SNAP29	ACTB	POMT2	LMNB1	CIT	FAT4	DAG1	LARGE1	RAB3GAP2	POMT1	LAGE3	ACTG1	OCLN	TUBGCP6	MCPH1	RXYLT1	EXOSC5	ADAMTS3	VAC14	CEP63	TP53RK	CEP135	FKRP	NUP133	ALG12	KIFBP	ISCA1	PAFAH1B1	ARHGAP31	WDR4	ATR	CDKL5	TPRKB	KNL1	POMGNT1	ETFB	NSDHL	STIL	CDK6	DCX	SIK1	MFSD2A	PI4KA	LAMA2	CCBE1	POMK	CTNNA2	GRM7	GNAO1	NUP107	TAF13	PNKP	DMXL2	ZNHIT3	FLI1	KATNB1	AKT3	OSGEP	LAMC3	TUBA1A	PYCR2	CEP152	METTL5	CASK	SCN1B	TUBG1	TUBGCP2	TCTN1	PIGQ	TUBB2B	ATP6V1A	PDHB	SASS6	ATP6V1E1	WDR73	TBC1D20	ARX	B4GAT1	CRADD	DHCR24	COL4A1	COPB2	ATP6V0A2	DYNC1H1	WDR26	RMND1	POMGNT2	NARS1	PHC1	CSNK2A1	FOXG1	ADGRG1	NDE1	KCNA1	KIF2A	TRAPPC14	WDR62	GPX4	KIF14	CDK5RAP2	RAB18	NEK1	PIGP	PRKDC	RNU4ATAC	ETFA	ANKLE2	CPT2	NCAPD3	SLC25A22	TCTN2	MLYCD
HP_TORSION_DYSTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TORSION_DYSTONIA	PRRT2	SLC2A1	TOR1A	HPCA	TAF1	ADAR	TUBB4A	THAP1
HP_TONGUE_FASCICULATIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TONGUE_FASCICULATIONS	RMND1	NOP56	CACNA1A	TSPYL1	CHCHD10	SMN1	SH3TC2	NDUFS4	SPTLC1	UBA1	EXOSC3	FXR1	VWA1	KCNK9	SCN1A	AIFM1	TBCD	SLC25A21	PRRT2	ASAH1	SLC52A3	VCP	ATP1A2	ADPRS	SLC52A2	AGTPBP1	OPTN	SMN2	SYT2
HP_DYSMETRIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSMETRIA	SACS	ITPR1	WDR81	MLXIPL	COA7	PRNP	TIMMDC1	SLC9A1	BRAT1	CWF19L1	XRCC4	VLDLR	FA2H	WASHC5	PIK3R5	SRPX2	IFRD1	FXN	GTF2I	GRM1	NCF1	RFC1	ATG5	NOP56	PLD3	LIMK1	TBP	ATXN1	EIF4H	EXOSC5	KIF1C	CRAT	CACNA1G	SLC7A6OS	TOP3A	CCDC88C	GTPBP2	MSTO1	RNASEH1	WARS2	CTDP1	TECPR2	POLR3A	EBF3	GPAA1	ACOX2	SLC20A2	SPG7	NEU1	PTRH2	PEX2	POLR3B	GBA2	ATXN2	AP5Z1	PRICKLE1	CAV1	SPTBN2	PITRM1	ATXN10	PMPCA	MAG	CLN5	IRF2BPL	BCL7B	PDGFB	POLG	AFG3L2	ACBD5	PPP2R2B	TPP1	SQSTM1	NDUFAF2	ANO10	PDYN	PMPCB	ATN1	GRID2	REPS1	DEGS1	PLA2G6	MARS2	TMEM63A	METTL27	TBL2	ATXN7	TMEM106B	TTC19	TCTN2	ADPRS	CAMTA1	TGM6	KIF1A	VWA3B	MRE11	ATP6AP2	PLP1	ELN	TMEM270	SAMD9L	FMR1	LNPK	RFC2	PUM1	ATP1A3	SLC25A46	FKBP6	STX1A	MYORG	SFXN4	BAZ1B	COQ5	BUD23	ERMARD	PI4KA	SYNE1	DNAJC30	NFASC	NGLY1	GTF2IRD2	GJC2	NF1	PNPLA8	LAGE3	CAPN1	VPS37D	AASS	OPA1	YME1L1	RARS1	UCHL1	CACNA2D2	STUB1	POU4F1	RRM2B	B4GALNT1	ABCB7	ABHD12	PEX16	GJB1	MTTP	ADGRG1	LMNB1	SHMT2	ABCD1	PDGFRB	SCN8A	DAB1	CLIP2	HIBCH	PRKCG	KCNC3	GTF2IRD1	XRCC1	TTPA	SPART	CYP7B1
HP_ABNORMAL_NERVOUS_SYSTEM_ELECTROPHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NERVOUS_SYSTEM_ELECTROPHYSIOLOGY	PRODH	NOTCH2NLC	UNC80	MECP2	DCPS	MYO9A	ARG1	CNPY3	AGRN	NALCN	PIGA	NCDN	SLC2A1	STUB1	SRPX2	YEATS2	DPM2	FBXO38	DOCK7	SYNGAP1	PMP22	FLVCR1	PEX3	PLA2G6	VCP	GABRA1	CLCN2	ATXN1	CYP27A1	PIGW	MPZ	NEFL	CHRNA2	PHGDH	IGHMBP2	WDR4	FBLN5	CILK1	ASL	RPL10	TRAF3	LAMA2	MT-CO1	KCNT1	LRSAM1	ST3GAL3	MT-ND1	STRADA	MYH14	GDAP1	PDE2A	CNTNAP2	CTNNA2	GLYCTK	PLP1	CC2D1A	ARV1	JPH1	PSAP	TIMM50	CNTN2	SH3TC2	NRAS	RTN4R	NLRP3	SBF2	FMN2	UNC93B1	ATP1A2	MT-TF	GALC	PEX6	SCN2A	ADRA2B	SPTBN1	SYT2	LYST	CSTB	RAI1	NDRG1	TRAPPC11	GJC2	MAPT	CPLANE1	SPG21	PEX12	UBA5	KCNA1	GABRD	SMS	MARCHF6	PNKP	DEGS1	SYT1	CUX2	RAB7A	TUSC3	MT-TL1	GNB1	GABRB2	CREBBP	NSUN2	FKTN	GRN	PEX11B	SCARB2	PEX16	REEP1	DYNC1H1	SLC44A1	DAOA	SCN1A	KDM6A	CADM3	PLAA	PRX	PIK3CA	KCNMA1	EFHC1	WNK1	SAMD9L	SLC1A2	LIPT2	PEX13	KCNA2	NGLY1	ARFGEF2	CACNB4	AARS1	B3GALNT2	KCNQ3	ARSA	PAX6	PEX26	OCA2	SYNJ1	UBE3A	CDK19	RUSC2	DOCK6	SPATA5	DHH	ACTL6B	HIBCH	SNIP1	CABP4	ROGDI	ERCC6	RRM2B	PRPS1	HCN1	CDKL5	COL13A1	PDK3	DNM1	SCN9A	GUF1	HSPB8	ARX	SPTLC1	IDUA	MFF	VPS13A	PEX14	LAMC3	LMNA	RETREG1	CLTCL1	SCN1B	AASS	GRIN2A	TUBGCP2	DEAF1	RNF13	EP300	PSEN1	IARS2	GABRA5	PTS	EMC1	PIGT	ERCC8	PDHA1	FGF12	TFE3	EGR2	DLL4	CNKSR2	MED23	PARS2	ADGRG1	APOL2	NECAP1	PSAT1	CLTC	GLUD1	YWHAE	ALG14	GNAO1	CLCN4	PHACTR1	MATR3	GABBR2	COX4I1	LARS2	FARS2	KCNJ11	CACNA1A	GARS1	AIFM1	TPI1	MT-ND6	LITAF	PURA	TRIT1	CEP85L	AP1S2	TICAM1	KCTD7	LGI1	GABRG2	PIGG	CTBP1	PCDH19	CHD2	KCNT2	TBC1D24	NSF	NUP188	LIG3	PNPO	MT-TW	TRAPPC9	FGF13	CHCHD10	PRKCZ	CTDP1	PCK1	COX16	GABRA2	GPAA1	ANTXR1	SNRPN	PIGL	NECTIN1	NEXMIF	PEX5	HPDL	GABRB3	PTRH2	ATP1A3	HMGCL	DOLK	NDUFA9	TPP1	AP3B2	BRAF	GABRB1	XPA	KCNAB2	UPB1	CHAT	SPTAN1	IREB2	ATXN10	MED25	PIGQ	FRRS1L	CACNA1H	MFN2	OCRL	PEX19	PIGS	FDXR	MT-CO3	SLC25A46	SETBP1	PDPN	NOTCH1	CLN6	COQ2	PRNP	KCNQ2	SLC25A22	LINS1	NPRL3	SQSTM1	ERCC4	TMEM106B	LONP1	PRRT2	ALDH7A1	UBE4A	SOX10	EZR	XPC	CPA6	MYH3	PEX1	TGFB1	RSRC1	TBC1D2B	ALG3	HSPG2	GAD1	CPLX1	MED17	AHSG	GMPPB	DDB2	SPEN	SIK1	MAP2K1	CELF2	SNAP29	APC2	NTRK2	VAMP1	PHF6	CEP126	SPTBN4	GRM7	NMNAT1	GNB5	MT-TS2	NLGN3	PGAP3	UGDH	MORC2	CLN8	PAFAH1B1	ATL1	PIGY	STXBP1	ALG13	SLC12A2	UQCRC1	ANKRD11	KPTN	FAM126A	EIF2S3	ERMARD	ARHGEF10	MT-ND5	RMRP	CUL4B	CHRNA4	BSCL2	SLC45A1	MPDU1	TFG	POLG	SLC13A5	MED13L	YWHAG	KDM5B	GRIK2	DCAF8	TRAPPC12	CRADD	DENND5A	PEX2	ERCC3	ALKBH8	KIF1B	AARS2	EDNRB	SLC35A2	NDUFAF8	ABHD12	SYN2	ALG11	MAN1B1	FOXG1	DHDDS	WDR73	ERCC2	MDH1	IQSEC2	MPV17	TBK1	DALRD3	SACS	TREM2	SZT2	FLCN	SEMA6B	KANSL1	CCDC88A	ITGB6	POMT2	FXN	APOL4	TIMM8A	MTMR2	ZNHIT3	SCN3A	CHMP2B	TUBB2A	AHDC1	AP2M1	SBF1	NHLRC1	SLC25A1	MT-TH	TPRKB	MADD	NTRK1	C12orf4	ADGRV1	SPTLC2	TBCK	SMC1A	AKT3	ARHGAP31	JRK	SLC1A4	AIMP2	GRIN1	SUCLA2	NTNG1	ZEB2	CLN5	KCNB1	KIF1A	NDP	AFG3L2	CCT5	HNMT	ATP10A	FIG4	EBP	MT-CO2	PRDM16	POGZ	LMAN2L	NSD2	GRIN2B	TLR3	GRIN2D	FGD4	MAP1B	HK1	ATP6V1B2	MYD88	PIGP	EPG5	ANKRD17	SCN8A	DRD3	GFM2	RERE	CLIP1	LSS	SLC6A1	EEF1A2	WASHC4	NPRL2	PGAP1	SATB1	LTBP3	OPA1	CARS2	PPT1	SLC5A7	CPT1C	SLC25A15	SAMD12	ERCC5	MCOLN1	PGAP2	FKRP	NAA20	NTNG2	FOXP1	TECR	FBXO31	MTRFR	MFSD8	TBC1D20	PPP3CA	OTOF	PI4KA	LRPPRC	NFASC	CLTRN	ADARB1	WDR45	DMXL2	ABCD1	PRSS12	CYFIP2	FLII	PTPN23	CASK	POMGNT1	ATAD1	PLCB1	METTL23	SETD1B	EDC3	SIGMAR1	DAG1	SETX	DEPDC5	ERCC1	NF1	AIMP1	CTNND2	MT-ND4	BCS1L	PDSS2	NBEA	CACNA1E	SLC6A19	EOGT	MOGS	NEUROD2	TRIM8	KRAS	PIGC	ZC3H14	NLGN4X	PNPT1	TYROBP	MTHFR	ATP6V1A	LAGE3	SLC12A6	HSD17B4	TRPV4	SARS1	CHI3L1	IER3IP1	C9orf72	HTR2A	NUS1	KCNH1	UBE4B	DNM2	CUL3	SNAP25	DCX	DPAGT1	UBTF	NUP107	AP3D1	IQSEC1	OSGEP	NACC1	SORD	EPM2A	PIGV	TET3	DIAPH3	ST3GAL5	CLCN6	DHPS	MBOAT7	MMP23B	GJB1	DPM1	MGAT2	CRBN	CACNA1B	TTC5	GNB2	ABCC8	HNRNPU	TYMP	ALDH4A1	VAMP2	ASNS	HRAS	WWOX	MAF	TNIK	FGFRL1	POMT1	COMT	DPYD	HCFC1	CCDC47	EXOC8	PEX10	ATL3	ARHGEF9	SUMF1	HECW2	TP53RK	CRH	NUP133	UFSP2	NDST1	SLC25A10	TRAK1	SLC18A3	CASZ1	NEU1	HSPB1	HIC1	SLC9A6	P4HTM	RELN	PLPBP	PRICKLE1	PIGO	PLEKHG5	FBN1	ABCA5	LETM1	KMT2D	SLC39A8	LUZP1	LARGE1	ALG2	MAP2K2	CHRNB2	LMNB1	STX1B	SKI	ALDH5A1	MAPK10	RBPJ	RTTN	NEMF	ACOX1	MT-TQ	AP1G1	STARD7	DHX16
HP_GIANT_SOMATOSENSORY_EVOKED_POTENTIALS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GIANT_SOMATOSENSORY_EVOKED_POTENTIALS	NHLRC1	MARCHF6	SAMD12	STARD7	EPM2A	SEMA6B
HP_REDUCED_TENDON_REFLEXES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_TENDON_REFLEXES	NOTCH2NLC	MYO9A	AGRN	RTEL1	PYROXD1	B3GALNT2	MT-TE	TBCK	CHCHD10	FBXO38	INF2	PIK3R5	PMP22	RYR1	DYSF	KLHL41	DES	FLVCR1	PEX3	HSPG2	PLA2G6	CHRNE	SLC25A4	ATXN1	JAG1	PIGW	SELENON	MPZ	IGHMBP2	ERCC3	PNKP	MORC2	SUCLA2	NEFL	ERCC2	BIN1	LIFR	RNASEH1	TPI1	TWNK	TECPR2	PDK3	FBLN5	MYF6	TRIP4	TBCD	LAMA2	C19orf12	COLQ	LRP4	LRSAM1	ASAH1	POLG	MYH14	GDAP1	TERT	TG	CNTNAP2	SYNJ1	ARV1	JPH1	PSAP	TPM3	GOSR2	DHH	SQSTM1	SNX14	NRAS	PHYH	ERCC1	FKBP10	FLNC	MT-ATP8	FUS	SBF2	CRPPA	GFPT1	ATP1A2	SHANK3	GALC	KY	MTMR14	PEX6	ATP1A3	CRYAB	SYT2	DNMT1	PLP1	LYST	RAI1	RMND1	PEX12	MRE11	UBA5	SCYL2	TARS1	POLG2	AMT	ATXN3	ZSWIM6	FLI1	RAB7A	XK	PDXK	GNE	HSPB1	ALDH18A1	GABRB2	PTRH2	MTPAP	CLCNKA	PEX16	FASTKD2	DYNC1H1	MT-ND1	ERGIC1	VCP	PLOD1	MT-TT	DNM2	BAG3	CADM3	PRX	PNPLA6	WNK1	GBE1	SLC1A2	FMR1	FLRT1	KCNA2	NGLY1	AARS1	MYPN	ARSA	QRICH1	SLC52A2	PEX26	PIGB	TSHR	TBK1	VAPB	RUBCN	KCND3	DGUOK	PEX5	ACTL6B	MT-TK	SNIP1	STAC3	KCNK9	ERLIN1	PRPS1	COL13A1	PMM2	DPAGT1	DMD	BICD2	HSPB8	SMN2	LGI4	VPS13A	PEX14	LMNA	GNAS	RETREG1	ASCC1	NDUFA1	DST	DEAF1	FXR1	VWA1	IARS2	GABRA5	SLC25A21	MYOT	STIM1	EMC1	HACD1	ALG6	B4GALNT1	CFL2	FHL1	SLC1A3	XPA	EGR2	MT-ND6	PITX3	POMT2	CNKSR2	PARS2	ACTA1	TRPV4	NECAP1	CLTC	DOCK3	TAF1	HNRNPK	STX16	KIF1A	RFC1	DPM3	TUBA8	OCRL	AIFM1	GABRA3	FKRP	TPM2	LITAF	BSND	SNRPN	PIEZO2	TSHB	ENTPD1	DOK7	PIGG	ORAI1	CNTNAP1	LRP12	KBTBD13	PIGN	SCN4A	TBC1D24	NEB	LDB3	SUCLG1	RRM2B	CDK5	RNF170	GABRA2	REEP1	PIGL	SMPD1	LARGE1	EMD	PEX2	NDUFA9	AP3B2	ATXN2	DKK1	VANGL1	FKTN	MFN2	LHX4	MME	CHAT	MED25	MAG	MUSK	HCN1	FBN1	CHRNA1	CNTN1	PRNP	GAN	MSTO1	SLC25A46	KARS1	ERCC6	MYL2	DUOXA2	ELP1	WWOX	ERCC4	SOX10	XPC	APOB	PEX1	EXOSC1	SYNGAP1	TMEM43	HSD17B4	ATP6AP2	PEX11B	DDB2	CELF2	SNAP29	VAMP1	MEGF10	SPTBN4	DNAJB2	KLC2	GMPPB	SPEG	PGAP3	UGDH	GABRG2	POMGNT1	INPP5K	CD59	RMRP	ATM	ACOX1	MTM1	MT-TV	ERCC8	MT-ATP6	ARHGEF2	ATL3	AMPD1	TFG	COL12A1	PARN	DKC1	DUOX2	DCAF8	SCYL1	HESX1	TTN	PDHB	TAOK1	SCO2	MT-ND4	LPIN1	C9orf72	KIF1B	GEMIN4	FGF13	MT-CO1	GAA	ABHD12	TINF2	COX6A1	TK2	GRIA3	DHDDS	MT-ND5	AK9	SLC5A5	IQSEC2	TRIM2	SMN1	EXTL3	MPV17	ARSI	HNRNPDL	ATXN10	COG7	DALRD3	SACS	WDR81	COA7	TRAPPC11	HARS1	MYO1H	OPA1	SZT2	TTPA	GIPC1	GARS1	GBA	DNM1L	MT-ND3	FXN	ALG2	SCN3A	ADSS1	WARS1	DAG1	NTRK2	ACAT1	ADCY6	SBF1	MPLKIP	SLC25A1	ALG1	ATP7A	MTRFR	GTF2E2	SYNE2	ARL6IP1	YWHAG	FDX2	GLE1	ITGA7	PLEC	LMOD3	POMK	APTX	DARS2	CACNA1A	KCNB1	KCNJ18	KIAA0586	COL4A1	IYD	MDH2	POMGNT2	FIG4	CHRNB1	ATN1	GFER	TRMT5	NARS1	MAP3K20	POU1F1	RAPSN	POMT1	MT-TW	GNB4	HMGCL	GRIN2D	FGD4	HK1	ATP6V1B2	GCSH	ALG14	TDP1	GBF1	ACADM	HADHB	ABCA1	IBA57	SIL1	EEF1A2	DNASE1L3	PRKCG	ERBB3	MARS1	PNPLA2	SLC5A7	MYH7	ERCC5	PGAP2	TCAP	ABHD5	ELOVL4	PODXL	NFASC	CYFIP2	FLII	SLC13A5	DNM1	SEPTIN9	PTF1A	FUZ	GJB1	SYNE1	EXOSC9	MTTP	SIGMAR1	SURF1	SETX	DNAJC3	XRCC1	PPOX	SAR1B	ATP1A1	TSPYL1	SPTLC1	TRIM8	SNAP25	DNAJC6	KRAS	MGME1	IFRD1	TRIM32	PNPT1	SCN9A	HADHA	BEAN1	TYMP	VPS33A	CACNA1S	PSMB8	RXYLT1	PGM3	PROP1	KLHL9	MT-TL1	NUS1	OPA3	HDAC4	SLC35A1	AR	SCN8A	PAX7	PEX10	MT-CO3	MYL1	SLC12A6	CDK19	CHRND	CARS2	LAMB2	LHX3	SPTLC2	CPT1A	PMPCA	PIGV	GEMIN5	ST3GAL5	PEX19	PLEKHG5	TBC1D23	NAGLU	GTF2H5	CACNA1B	GRIN2A	TMEM240	ACD	CLCNKB	OTOG	ALDH4A1	NEFH	ACER3	GLDC	NDRG1	HRAS	SPG11	ACO2	TARDBP	DPYD	PPP2R5D	PEX13	PPP3CA	SIM1	NDUFS4	ATP6V1A	COASY	TRAK1	RNF113A	SLC18A3	PEX7	SLC25A19	HINT1	COX8A	UBA1	PIGO	MT-ND2	FGF12	TRIM37	TPO	B4GAT1	DBH	SH3TC2	HSPB3	ZC4H2	TTR	PLEKHG4	MCM3AP	ALDH5A1	PIGY	PPP1R21	MAGEL2	PDSS1	NARS2	DHX16	TRMU
HP_NEONATAL_HYPOTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_HYPOTONIA	FKTN	TGFB3	UNC80	TPM2	KAT6A	PYROXD1	MT-TE	PURA	NDN	KANSL1	CCDC88A	SNRPN	PIEZO2	COL6A1	LYRM4	SUMF1	HERC2	KLHL41	COL6A2	ACTA1	DLAT	SCN4A	GNPTAB	ATP2B3	VAC14	MTHFR	HSD17B4	IER3IP1	BIN1	ODC1	SLC16A2	DLK1	SUCLG1	SPOP	SDHA	AP4B1	ERCC6L2	FKRP	ARX	CHRNE	MADD	NADK2	PEX10	SH2B1	LAMA2	PTRH2	POMT1	PCLO	SLC12A6	PEX2	TAF6	COL6A3	PEX1	GLYCTK	TSFM	MTM1	WAC	TBCK	CHRND	NALCN	RYR1	FGFR1	VMA21	UPB1	LMOD3	NTNG1	POMK	SHANK3	HNF1A	FLNA	PEX16	COPB1	OCRL	KNSTRN	AP4E1	AP4M1	EEF1A2	CNTN1	PDP1	MKRN3	PRPS1	GDAP1	MYH7	SLC25A46	UQCC2	SMC1A	PDE4D	SYT1	PEX3	VPS53	COL12A1	GATA6	POMT2	NPAP1	ATXN7	BCS1L	NEB	PEX26	CHRNA1	SOX10	TMCO1	PWAR1	MAGEL2	GRIA4	TNNT1	HADH	FIG4	CAMTA1	TIMM22	PLOD1	CHKB	MT-TT	ADNP	CRPPA	PDHX	CHRNB1	B3GALT6	GABRA2	CCDC174	MUSK	H1-4	VPS13B	USP7	MEGF10	BPTF	GATAD2B	SPTBN4	PPP2R5D	GLS	PDSS2	SIM1	CPT2	COG4	RPL10	PAFAH1B1	PEX6	NSD1	PLCB3	SELENON	SPATA5	MAG	KCNK9	GOT2	CDKL5	NONO	ALG11	ZNF469	SYNE1	ARID1B	RTL1	MEG3	COQ4	RAPSN	DST	CFL2	FXR1	SLC6A8	MED12	PIK3CD	COA6	MRPS16	PWRN1	TBR1	CLPB	SNORD115-1	EGR2	TBC1D24	TPM3	TMEM260	PGAP1	FOXG1	NEXMIF	PSMD12	ACOX1	PEX12	ITGA7	SON	TUFM	EARS2	CASK	PRDM5	NKX6-2	SLC25A22	EIF5A	GABBR2	HNF4A	SNORD116-1	BRAF	DNAJC19	NFIX	MECP2	TUBA8	CWC27	LARGE1
HP_CEREBELLAR_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBELLAR_HYPOPLASIA	RERE	SACS	WDR81	FKTN	OFD1	TMEM237	RTEL1	TSEN54	CEP120	B3GALNT2	SEMA6B	RTTN	TMEM216	TBCK	STUB1	MACF1	CWF19L1	DPM2	CDKN1C	GPC3	TINF2	ACD	CDC42	ATP5F1A	MPL	KCNQ1OT1	CEP41	MAPK8IP3	PIEZO2	DAG1	ERF	RAB11B	TERT	DOCK6	TMEM67	FAM149B1	AHI1	SYT2	GPC4	LAMB1	MAB21L1	COASY	RBM10	MSTO1	MAN1B1	B9D1	TWIST1	EBF3	SMARCA4	RPL10	PACS1	CASK	NFIX	BICD2	ARMC9	ATG7	JAM3	TOGARAM1	PCLO	LARGE1	CTNNA2	MID1	PHGDH	SLC25A24	RAC1	SNX14	NRAS	RHOBTB2	SMARCB1	CRPPA	NUP37	TCTN1	BUB1B	ATP6V1A	KIDINS220	ZEB2	ALG3	PPP2R1A	WDR73	SMG9	PTF1A	KMT2C	FOXC1	CLCN3	AFG3L2	TKFC	KIAA0586	ARID1A	FANCB	COL4A1	DHX37	SLC25A19	WAC	PMM2	DYNC2I1	WDR26	FLNA	POMGNT2	EBP	TOPORS	SOX11	PLG	NDE1	NPHP1	BRF1	POLA1	ARID1B	CHD7	RAB18	CSPP1	SMARCE1	MARS2	POMT1	KATNIP	DHCR7	CPT2	PIGN	ITPR1	CEP57	NPHP3	EHMT1	FTO	TCTN2	FIG4	CAMTA1	ATP6V1B2	FAR1	EPG5	ZIC1	ASXL1	DHFR	ADGRG1	TSEN34	MRE11	POMGNT1	TRRAP	VPS4A	RAB3GAP1	VPS13B	USP9X	OXR1	PTEN	SIL1	C2CD3	POMT2	MICOS13	NODAL	L1CAM	INPP5E	RBBP8	TUBGCP6	GRM1	TMEM138	KIAA0753	DOK7	CEP104	ELN	SMPD4	TMCO1	RNF113A	BMP4	ATR	CDC40	SMARCD1	TOE1	OTUD5	GPAA1	ROGDI	B4GALT1	SON	POMK	USP18	DMXL2	GOT2	EXOSC8	ZBTB11	NONO	GMPPB	PI4KA	PLP1	ALG6	MBTPS2	GLI3	EVC	ZNF423	RPGRIP1L	FLVCR2	HNRNPH2	TUBA1A	PPP1CB	TAPT1	NUP88	TMEM107	MKS1	PIGT	BUB1	PIGU	DYNC1H1	ARL13B	FRMD4A	LRRC32	PAFAH1B1	B4GAT1	TRIP13	PGAP1	ASXL3	FGFR2	CC2D2A	PSAT1	PPIL1	GPX4	ERCC1	ATP6V0A2	TAF1	DISC1	DYNC2H1	CPLANE1	PRKDC	IFT172	ATCAY	MYOD1	BCOR	WDR35	CIT	LAMA1	TERC	FKRP	VPS35L	ABAT	MLXIPL	ARID2	KRAS	VLDLR	MGME1	SRPX2	TBC1D24	TSEN2	PIGG	ATG5	RARS2	SIX3	IGF2	TMEM231	INTS8	RXYLT1	VAC14	WNT1	CACNA1G	IER3IP1	ALG12	CENPE	VPS51	THG1L	PIBF1	DCHS1	CENPF	RAPSN	CDK5	CCDC32	CSF1R	SEMA3E	TNPO2	KIF14	PTRH2	EXOC7	PARN	MINPP1	DPAGT1	NSD1	EOMES	CHMP1A	SLC35A2	CARS2	SOX4	COL3A1	DKC1	CEP290	FGFR1	SETD2	PPP1R15B	SMARCC2	PMPCA	TUBB2B	COG1	HYLS1	TSEN15	SLC25A1	MAST1	WASHC5	TBC1D20	TRAPPC9	SEPSECS	FDXR	ERCC6	TUBB3	POLR3A	ATAD3A	HDAC6	SLC25A46	HERC1	GJB2	TP53RK	RPGRIP1	ATXN2	MUSK	NDUFA6	BUB3	ASNS	SASS6	EXOC2	HRAS	STAG2	B9D2	APC2	AFF3	EXOSC1	TUBB	ASPM	FAT4	HHAT	SLC1A3	THOC2	SPECC1L	OPHN1	GPHN	DPH1	MAP2K2	NCAPG2	RAB3GAP2	DPF2	DYNC2I2	MYO5A	OCLN	VRK1	STAT2	CBY1	SRD5A3	ATP2B3	CCDC22	KIF7	KIAA1109	AHCY	TCTN3	INPP5K	ARL3	EVC2	ERMARD	SLC18A3	TXNDC15	PCGF2	PDE6D	COQ4	MFSD2A	WARS2	GFM2	YME1L1	DENND5A	PDHB	SUFU	ATP6V1E1	CEP164	RPE65	TRMT10A	ALX4	ZNF292	ATN1	INTS1	RORA	KCNQ1	ROBO3	GPSM2	PIGA	AP1S2	DPYSL5	GRIA3	IFT80	NEK1	PPP1R21	MDH1	TMEM218	RELN	ARSI	GJB6	RBM8A	CEP55
HP_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_WEAKNESS	TP53	CACNA1S	NOTCH2NLC	TARDBP	AGRN	PYROXD1	GSN	UQCRFS1	CLCN4	ABCD1	RRAS	COL1A2	DPM2	TCIRG1	RYR1	DYSF	YARS2	DES	HSPG2	CHRNE	CHCHD10	SLC25A4	ATXN1	SELENON	TGFB1	CCNF	IGHMBP2	EXOSC5	MORC2	SUCLA2	PEX7	GTPBP2	MYH7	TWNK	MT-TK	SMARCE1	MYF6	TRIP4	MT-ATP6	BMS1	TBCD	LAMA2	PHKB	NEFL	CCN2	COLQ	TRAF7	CHP1	ASAH1	POLG	STIM1	PEX5	ARV1	CLP1	TPM3	TIMM50	SQSTM1	TIA1	SH3TC2	CAV1	PHYH	FLNC	CASR	CDH23	NDUFS8	SGCG	EHHADH	ATP1A2	RTN2	GALC	CAV3	PSAP	ASPA	TBK1	LYST	TRAPPC11	GJC2	CPLANE1	UBA5	DUSP6	DCTN1	ZNF711	POLG2	PNKP	TERT	FGF8	PDGFB	SOX10	PTRH2	REEP1	MATR3	PIK3CA	PLOD1	GATM	DNM2	PLAA	SLC12A1	POMGNT1	PEX11B	COL13A1	DCC	ATP1A3	NDUFAF4	PNPLA6	COL9A1	KRAS	FKTN	SCN4A	LAMP2	MYPN	ARSA	DDHD1	FBN1	DPAGT1	PON3	VAPB	SOST	TRH	STAC3	MTRFR	ERCC6	RRM2B	MICU1	DNAJB6	PEX6	FKRP	CLCNKB	COL6A2	BICD2	SPTB	TCN2	SPTLC1	LGI4	MFF	VPS13A	HSPD1	KLHL41	ZFTA	SCN1B	RNASEH1	CRLF1	HACD1	CFL2	FHL1	SPAST	MT-TE	MT-ND6	POMT2	ACTA1	TRPV4	PEX13	ADGRG1	NECAP1	CLTC	ITGA7	PROK2	TFG	COG8	FIP1L1	USP27X	PIGQ	PLXND1	HNRNPK	SEPTIN9	ZNF81	ETFA	COX4I1	SGCA	DPM3	UBQLN2	POLR3GL	GABRA3	TPI1	SUPT16H	KCNJ11	WASHC5	CYP7B1	SCO2	ORAI1	FOXRED1	SLC19A3	TFAP2A	LRP12	COL12A1	LIG3	NAGA	MT-TW	NUP62	CACNA1G	NEB	SLC16A2	LDB3	AMER1	TPM2	CHMP2B	SDHA	NKX2-5	FIG4	CDKL5	GABRA2	SLC25A20	AMPD3	SEMA3E	KPNA3	SMPD1	TNXB	NDUFAF2	LARGE1	IRAK1	EMD	SALL4	POMT1	GBA2	SGCB	EGR2	GM2A	PFN1	SYT2	RALGAPA1	MFN2	SLC25A26	MME	ERCC8	PPP1R15B	IREB2	DMD	MUSK	SLC39A14	HCN1	HNRNPA1	DSE	ACSL4	SMARCB1	SOS1	CNTN1	MSTO1	CAPN3	GAN	GNA11	SUFU	EPHA4	DDHD2	TNFRSF11B	MYL2	PRNP	MAPT	MPZ	GYG1	NRAS	GNAS	MED12	CPT2	AIFM1	TRDN	ZBTB16	KIF1A	MT-TF	CPOX	SNX10	AMPD1	KCNJ5	NDUFS3	VCP	ACAD9	PRPH	TAF15	NDUFB11	SNAP29	VAMP1	FGF17	MEGF10	CEP126	MRPS25	SPTBN4	MT-TS2	GMPPB	PMP22	UBAP1	SPEG	BIN1	PAFAH1B1	DLL4	KLHL40	SLC4A1	CD59	ARX	FAM126A	MT-ND5	PON2	ACOX1	MTM1	MT-TV	CNNM2	BSCL2	UBE3B	FUS	HLA-DRB1	CLCF1	NUMA1	BTD	ABCB6	ATP7B	OPA1	DCAF8	ANO5	NUTM2B-AS1	LPIN1	NDUFA11	UPF3B	RPS6KA3	MT-CO1	TANGO2	NDUFA8	FUZ	SPG11	NDUFV2	NDUFA6	TK2	AAAS	UNC13A	DAG1	ISCU	TOE1	TRIM2	SMN1	MPV17	UNC45B	HCFC1	DALRD3	GABBR2	SACS	COA7	ALS2	YY1	SFRP4	GARS1	HK1	COL6A1	PLEC	MT-ND3	NDUFV1	FXN	SCN2A	ABCA2	MTMR2	ADSS1	HINT1	ANKH	PRPS1	NTRK2	SZT2	ADCY6	BAP1	SLC25A1	MT-TL2	EYA1	ATP7A	MT-TH	SPP1	KCNJ18	DNAJC19	NDUFAF1	NABP1	ADA2	SYNE2	NEU1	RASA1	KY	COL5A2	NDUFS1	SBF2	AGK	FDX2	TSFM	SLC25A24	TBCK	SLC18A3	MRAS	POMK	CACNA1A	NDP	CHD7	AFG3L2	LYRM7	IQSEC2	COL4A1	C19orf12	COL9A3	FGF23	MT-CO2	CCN6	FLRT3	POMGNT2	DOK7	SPTA1	PIGN	SCN1A	POU3F4	HOXB1	NDUFAF3	FKBP14	ALG14	HEXB	CHKB	PIGF	COL1A1	DHFR	ABCA1	CCDC174	ERLIN2	IBA57	ALG13	SMCHD1	SLC34A1	TUBB6	SIL1	MYOT	EEF1A2	SOD1	CCR6	MICOS13	KCNA2	SLC25A46	MARS1	PNPLA2	MYMK	CPT1C	KCNJ1	LMNA	KCNJ2	CLCN7	LRP5	NTNG2	TCAP	ETFB	CRYAB	ABHD5	CYP2R1	CCDC141	FRMPD4	SIK1	NEK1	PI4KA	PLP1	GRM7	GBE1	STAT4	OPTN	PPARGC1A	CNBP	VPS13D	GFPT1	PMPCA	DNA2	DNM1	ATP13A2	L1CAM	HEXA	FXR1	SECISBP2	PHKA1	GJB1	SYNE1	MTTP	NPM1	COL25A1	SDHAF1	BCS1L	ERBB4	AP3B2	SARDH	PPOX	DNMT3B	ACTN2	NDUFB9	NEUROD2	HLA-B	FRG1	MGME1	SRPX2	MYH14	ZNF41	SURF1	BTNL2	TACR3	FTSJ1	HADHA	PSMB8	ALDH18A1	KLHL9	HADHB	TTN	ELOVL5	NUS1	NF2	NF1	SCN8A	KIF5A	GRIA3	SNAP25	NDUFAF8	AR	SLC12A6	CNKSR2	DARS2	AKT1	CHRND	MT-ND2	AP3D1	COL9A2	LRIF1	NONO	MYO9A	LAMB2	VMA21	SLC5A6	C9orf72	PLEKHG5	MYBPC1	PAX8	GDAP1	TSHR	TDP1	FARS2	SCNN1A	PMPCB	CHRNB1	DAO	GRIN2A	GNAO1	PNPT1	TYMP	SPG7	FAM111B	ADPRS	PEX16	WWOX	CDC73	ABCC8	TRIM8	CRPPA	HMBS	KBTBD13	PABPN1	ANG	TGM6	ZFYVE27	EXOC8	ATL3	HESX1	GLT8D1	NDUFS4	ATP6V1A	ATL1	TRAK1	ADAR	ACADS	PUF60	CYP27B1	MTHFR	TMEM126B	SLC25A19	POGLUT1	CAPN1	MINPP1	UFC1	GJA1	FLVCR1	GPI	UBA1	FGF12	TRMT10A	B4GAT1	KCNJ10	COQ7	HSPB3	COL5A1	IRF2BP2	TTR	HFE	LMNB1	SHMT2	NDUFS2	JAG2	TREX1	SPR	SPRY4	KCNE3	NDUFAF6	FMR1	ATP5F1D	SLC25A22	HNRNPA2B1	MTAP	MT-TQ	TRMU	ACY1	B3GALNT2	EXOSC3	FBXO38	INF2	PIK3R5	PCNA	RIT1	PLA2G6	PDE8B	JAG1	MT-TN	GCK	HTT	FBLN5	SLC5A7	EBF3	BRCC3	PFKM	PTEN	LRP4	LRSAM1	MT-ND1	NIPA1	SLC18A2	MLX	PCLO	TRPM7	PYGM	JPH1	SLC52A3	HS6ST1	SKI	MTMR14	CHRNA1	COL6A3	NDRG1	NDUFB10	D2HGDH	SPG21	PRKACA	LMOD3	KCNA1	ARMC5	MRPL12	FLI1	RAB7A	XK	MT-TL1	GNE	TIMMDC1	TMEM63A	HSPB1	GABRB2	OAT	USP9X	RELA	DYNC1H1	ERGIC1	PTPN22	IDS	BAG3	CADM3	PRX	NDUFA13	SLC1A2	SPARC	AP2S1	NGLY1	LBR	AARS1	SLC52A2	NDUFS7	DGUOK	DHH	ACTL6B	PDCD1	SLC33A1	KCNK9	ZFYVE26	PDK3	CLCN1	TNPO3	PUS1	HSPB8	SMN2	CCND1	ASCC1	PEX14	VWA1	GABRA5	RARS1	SLC26A4	PTS	CCDC78	SLC25A21	PTDSS1	B4GALNT1	SIGMAR1	TNR	SCNN1B	ANXA11	PARS2	NFU1	TUBB3	ANK1	IFIH1	MECP2	PTPN11	NDUFB3	LITAF	RAI1	PEX1	SETX	ETFDH	STAT3	PIEZO2	INPP5E	RAF1	RFC1	SMARCAL1	IRF5	CNTNAP1	GCH1	SUCLG1	WARS2	NEFH	SIX1	EIF2AK3	PHACTR1	NDUFA10	VDR	ELP2	DOLK	AP5Z1	SCN11A	DKK1	VHL	SLC12A3	INPP5K	CHAT	MED25	ALAD	ACBD5	MT-CO3	TNNT1	KARS1	PHKA2	NDUFB8	GGPS1	TSPAN7	BVES	SOS2	PRRT2	TTC19	SLC22A5	TRIM32	MYH3	CFAP410	IL1RAPL1	SYNGAP1	TMEM43	EPB42	CELF2	FOXC2	COA8	SDHB	PEX12	GNB5	DNAJB2	RBCK1	VRK1	ALDOA	CLCN2	MAP2K2	GABRG2	COQ2	RRAS2	NOP56	LTBP4	PDE11A	PNPLA8	SCYL1	NOD2	PEX10	PEX3	MT-ND4	KIF1B	COX20	GEMIN4	AARS2	TBL1XR1	SGCD	FGF13	GAA	PEX26	COX6A1	ALG2	PTCHD1	DHDDS	AK9	CBL	HLA-DQB1	EXTL3	HNRNPDL	NUBPL	SIX5	SPART	HARS1	GIPC1	SCN3A	SBF1	PREPL	TOP3A	MAP3K20	NDNF	NDUFS6	MEN1	USP8	MT-TP	MT-TI	ATG7	FOXE1	NACC1	YWHAG	PHKG2	GLE1	SPTLC2	COX6A2	CYP11B2	CYP11B1	ARHGEF6	APTX	ACADVL	KCNB1	SYNJ1	MDH2	PMM2	AGL	NKX2-1	PRKAR1A	CASQ1	TRMT5	SARS1	RAPSN	ATXN7	GRIN2D	FGD4	SVIL	ATXN3	PIGP	DMPK	GBF1	ACADM	LIPE	BCOR	YARS1	PON1	ATXN2	PROKR2	DLG3	PML	BICRA	SPRED2	CASK	FGFR1	DMXL2	EXOSC8	RAB39B	REV3L	LRPPRC	IL12B	DSTYK	SLC2A3	CYFIP2	SLC34A3	AGTR2	FLAD1	SLC13A5	HAMP	ZFHX4	BSND	EXOSC9	PEX19	COQ8A	SDHD	PAK3	XRCC1	TTPA	WDR11	NDUFA1	HSD17B10	ATP1A1	NDUFAF5	IRF4	FA2H	TREM2	IFRD1	BOLA3	RARS2	GDI1	LIMS2	RXYLT1	STAT5B	ITGB4	HJV	POPDC3	FEZF1	SLC9A7	SMO	PAX7	TBCE	MYL1	CDK19	FAR1	SLC35A2	SORD	PGK1	SEMA3A	PGM1	EGF	NBN	POLR3A	TOR1AIP1	SYP	SLC7A7	XYLT2	P4HA2	IL17RD	PNKD	PEX2	SLC34A2	SCNN1G	TMEM165	CACNA1B	GNB2	ANOS1	DYM	ALAS2	RASA2	GPHN	COX6B1	RARA	CAVIN1	RANBP2	PET100	PPP3CA	MID2	AHCY	FXYD2	CHST14	STEEP1	LZTR1	MYH2	GFM2	YME1L1	SLC39A8	ZC4H2	MCM3AP	LEMD2	COX10	NARS2	MIEF2	DHX16	CLCNKA
HP_HYPOGLYCEMIC_COMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOGLYCEMIC_COMA	ABCC8	MC2R	GCK	GLUD1	ETFA	UCP2	HADH	NNT	HMGCL	MRAP	AKT2	KCNJ11	STAR	INSR	TXNRD2	ETFDH	NFKB2	HNF1A	ETFB
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	SYNGAP1	SLC6A1	GABRG2	SAMD12	SLC2A1	CHD2	SRPX2	SCN1A	NEXMIF	GRIN2A	STARD7	TBC1D24	AP2M1
HP_PHOTOSENSITIVE_MYOCLONIC_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHOTOSENSITIVE_MYOCLONIC_SEIZURE	KCTD7	SCN1A	SCN1B	GABRG2	SCN2A	SCN9A	PCDH19	GABRA1
HP_SPECIFIC_LEARNING_DISABILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPECIFIC_LEARNING_DISABILITY	COMT	TREM2	CDC6	SHH	B3GALNT2	CCDC28B	NDN	SLC2A1	SRPX2	TINF2	CKAP2L	SNRPN	ACTB	CHCHD10	CHSY1	TGIF1	PIEZO2	DAG1	CHMP2B	TERT	TSC2	RPS23	DNAL4	PRNP	TRIO	SIX3	YY1AP1	HCCS	MTHFR	SYN1	PTCH1	TUBG1	FIBP	MT-TH	IRF6	PRMT7	HTT	CDON	FOXH1	MYCN	DCC	HAL	MAPT	FGF8	FGFR1	MT-CO1	TSC1	MT-ND1	GALT	NTRK1	SC5D	GCLC	TDGF1	MID1	CA2	SQSTM1	NTN1	GRIN2A	SOX2	SBDS	JRK	SBF2	DARS2	STIL	MT-TF	STIM1	NODAL	SPTBN1	NOTCH3	COL4A1	AMACR	TMEM106B	PIK3C2A	ALMS1	MKRN3	TUBB4A	GABRB3	POMGNT2	TBX1	MAGEL2	ZIC2	MT-CO2	AUTS2	JAG1	IFNG	DISP1	MT-TL1	TMEM63A	NPAP1	GNPTAB	ZFYVE26	DVL1	MAP1B	ESS2	OCA2	PRKAR1B	PSEN1	PLA2G6	LEMD3	EHMT1	SMARCA2	SIL1	GMNN	FARSB	PNKP	SIM1	ELN	SLC25A15	KCNJ2	IGF2	FUS	DGCR2	GAS1	MICU1	PI4KA	POMK	MBTPS2	SLC2A10	VPS13D	DLL1	SLC2A3	HDAC8	PAPPA2	PMPCA	CLTCL1	WNT5A	CRPPA	LYST	SPG11	PTDSS1	TCF4	ARX	DNAJC21	SNORD115-1	KIF11	POMT2	TP63	RDH11	COX7B	ADGRG1	NF1	ABCD1	PSMD12	GLUD1	TUBB3	NDUFB11	THOC6	CDT1	MT-ND4	NSD1	GP1BB	SNORD116-1	PRRT2	SARDH	ORC1	APC	TERC	MT-ND6	SRY	ORC4	MLXIPL	SMAD4	MTOR	ASPA	GRN	GABRG2	AFF2	GJC2	STAG2	DGCR6	SPRED1	ACTG1	PRKAR1A	ALDH18A1	RXYLT1	HMGA2	NIPA1	MT-TW	KAT6B	C9orf72	HNRNPA2B1	AMER1	SIX6	CHRNA7	OPA3	GDI1	CYP27A1	NECTIN1	ARVCF	VCP	GLI2	WAS	LARGE1	UFD1	RAD51	FOXP2	POMT1	BBS1	FZD2	DIS3L2	FKTN	HIRA	SETD2	ARL6	CNKSR2	TUBB2B	CACNA1H	SMC1A	SRP54	MT-CO3	H19	GABRA1	KLF13	LAS1L	SEC24C	PWAR1	CDC45	SPG7	APC2	CACNA1A	SMPD1	TARDBP	DPYD	BPTF	KCNA1	MT-TS2	MYO5A	ALDOA	MORC2	FKRP	DMD	MAP2K2	NIPA2	DVL3	POMGNT1	FMR1	COQ2	MAN2B1	KCNC3	TCTN3	INPP5K	WIPF1	RNF168	MT-ND5	PDE4D	HINT1	HNRNPA1	JMJD1C	TBK1	UBE3B	FLT4	LTBP4	PIGH	MED13L	BLM	TWNK	SH2B1	HERC2	SPART	FANCF	DNAAF4	KCNJ5	ATP7A	PWRN1	B4GAT1	WDR1	GRIA3	DGCR8	RREB1	VPS41	KIFBP	EXTL3	SUGCT	MT-TQ	MSX1	RNU4ATAC	ORC6
HP_ABSENT_SEPTUM_PELLUCIDUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_SEPTUM_PELLUCIDUM	ARNT2	RSRC1	DCPS	TNIK	DYNC1I2	LHX4	CPLX1	FGFRL1	B3GALNT2	NCDN	FGFR1	SOX2	HYLS1	HCCS	CLIP1	EHMT1	MED25	COX7B	PIGC	RSPO2	KIAA0586	ZC3H14	CTBP1	WASHC4	PIEZO2	DAG1	PGAP1	RXYLT1	PROP1	TRAPPC9	FKRP	SARS1	UFSP2	NDST1	FANCI	POU1F1	NAA20	NDUFB11	CSGALNACT1	POMGNT1	TECR	FBXO31	SLC12A2	FOXA2	LARGE1	KRAS	FGFR2	HESX1	KIF7	POMK	MBTPS2	C12orf4	CC2D1A	POMT1	IQSEC1	SLC45A1	PRSS12	GLI2	FKTN	KDM5B	GRIK2	FMN2	CRADD	CRPPA	FRRS1L	LETM1	L1CAM	METTL23	PTDSS1	ST3GAL3	ALKBH8	B4GAT1	CDON	DHCR24	COL4A1	AIMP1	MBOAT7	GPR161	SSR4	OTX2	SOX3	HNMT	EDC3	POMT2	PROKR2	MED23	POMGNT2	EZH2	MAN1B1	PIGA	CRBN	GRM7	TTC5	CSPP1	LINS1	TUSC3	LMAN2L	MUSK	WDR11	NSD2	PPP1R12A	UBE4A	NSUN2	STAG2	EZR	NEMF	WNT3	AP1G1	ROBO1
HP_DYSTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSTONIA	KCNQ2	SLC6A3	OFD1	MECP2	KAT6A	DCPS	DRD2	CACNA1I	NCDN	CACNA1A	SLC2A1	CKAP2L	MT-ND1	SYNGAP1	MYF5	HSPG2	COL6A2	TGIF1	DCAF17	RAB11B	NDUFA10	SUCLA2	PSAP	GTPBP2	CHRNA2	TPI1	POLR3A	HTT	TWIST1	CDON	ERBB4	ADAR	MT-ATP6	MYT1L	TBCD	FGFR1	ALS2	DLD	C19orf12	KCNT1	GBA	TAF1	SLC18A2	HPCA	PDE2A	SERAC1	ACADS	IFIH1	RNU7-1	SYNJ1	CC2D1A	NAA10	COQ9	TH	CASR	FMN2	POLR1D	SDHD	DNAJC6	ALG3	STIL	PDGFB	SCP2	COPB1	PET100	ATP1A3	SIX3	SPTBN1	PLP1	COL6A3	CACNA1B	PLA2G6	FUS	RNASEH2B	TRAPPC11	GJC2	TUBB4A	CHAMP1	PTCH1	MRE11	DEAF1	SLC39A14	MAPT	KCNA1	ZIC2	RNASEH2C	NAXD	ATXN3	DEGS1	TSEN54	SYT1	FLI1	TUSC3	DISP1	MARS2	MT-CO3	ALDH6A1	NPC2	NSUN2	NKX6-2	NKX2-1	VAMP1	LRRK2	SNCA	ALDH18A1	GRIN1	SLC44A1	PDHX	PRKN	PLAA	NDUFV2	AUH	GCH1	NDUFA4	ADCY5	VPS4A	GLUD2	LIPT2	LIPT1	DHX30	NGLY1	VPS13C	SNORD118	PTS	ARSA	CHMP2B	PPP3CA	GNAL	NDUFAF2	GAMT	FGF8	PCCB	SET	ANO3	SPATA5	MT-TK	HIBCH	CABP4	GAS1	MICU1	CDKL5	NDUFA12	PNKD	PCDH12	PRKRA	ARX	PNKP	DLL1	SPATA5L1	VPS13A	SETD1B	NR4A2	CNP	SLC25A42	GNAS	SCN1B	RARS1	ST3GAL3	STUB1	B4GALNT1	MED27	PDHA1	RAB11A	TNR	SLC1A3	MT-ND6	MED23	TRPV4	ECHS1	AP4M1	EMC1	GNAO1	STX16	SLC30A10	GABBR2	THAP1	RNASEH2A	SLC19A3	COX15	GRIN2A	UFM1	YIF1B	SUPT16H	BCAS3	TRIT1	CEP85L	VCP	QDPR	KIF1A	SCO2	STAG2	PINK1	ACTA1	TBP	TBC1D24	MMADHC	DLAT	FGFR2	NUP62	TRAPPC9	GM2A	CACNA1G	JAM2	SLC16A2	WARS2	SDHA	AP4B1	CYP27A1	GLI2	HPDL	FTL	DNAJC13	NDUFA9	ECM1	TACO1	TTBK2	UPB1	UBA5	IREB2	PIGQ	CIC	FRRS1L	CP	TSEN15	NDUFS8	AOPEP	NBEA	DDC	VPS37A	GNA11	SGCE	SHH	TDGF1	NDUFB8	SLC30A9	ATXN2	NDUFS1	LINS1	LONP1	TMEM106B	UBE4A	TTC19	EZR	NODAL	RSRC1	VPS11	GAD1	HPRT1	GSX2	MT-TT	PIK3R5	PCBD1	VPS16	MRPS25	NEK9	GRIK2	UGDH	DNAJC12	KMT2B	COL12A1	MYORG	ACSF3	SLC12A2	EPRS1	HTRA2	KCNC3	TXN2	ATM	PANK2	MT-TV	ATP1A2	CHRNA4	MAT1A	ATP13A2	MT-ND4L	SLC45A1	B3GALNT2	PCGF2	KDM5B	PNPLA8	TRAPPC12	MMUT	KCNQ5	CRADD	HACE1	WDR45	MT-ND4	ALKBH8	COX20	TANGO2	CPLX1	MAN1B1	FOXG1	PDGFRB	EARS2	BRSK2	FITM2	MT-ND5	NDUFAF5	TAOK1	NDUFS3	DHDDS	CYB5A	PRKCG	MPV17	POLR3K	NDUFA13	HK1	COL6A1	PARK7	MT-ND3	CDH15	FXN	SCN2A	MRPS34	TIMM8A	PRRT2	YY1	SUCLG1	GABRB2	TOR1A	POLR1C	NDUFS7	NDUFS2	ACTB	FOXRED1	FOXH1	SURF1	CACNG2	SALL4	ATG7	GALT	NADK2	COLEC11	FA2H	C12orf4	GLE1	TSFM	CAMK2B	RHOBTB2	EIF2AK2	ARV1	ZMYND11	NTNG1	APTX	IRF2BPL	WDR73	GCDH	NDUFS4	TRPM3	AP4S1	ASH1L	AFG3L2	MDH2	HNMT	SQSTM1	PODXL	SUOX	SMC1A	ATN1	DNM1L	TSPOAP1	AP4E1	ATP7B	FBLN1	DALRD3	LMAN2L	CWF19L1	MT-TW	NDUFAF3	GRIN2B	TGM6	KCTD17	SCN8A	FBXO7	SPTLC1	SIGMAR1	GFM2	TSEN34	CLIP1	PRICKLE2	WASHC4	PGAP1	CAMK2A	COQ2	CDC40	NAA20	TECR	FBXO31	DMXL2	SIK1	CNTNAP1	DYNC1H1	LRPPRC	CDK10	GRM7	TCOF1	PPP2R2B	APOE	SLC2A3	PRSS12	VPS13D	COL4A1	CASK	VPS41	GIGYF2	PCCA	COASY	GRIA2	METTL23	CLTC	EIF4G1	EDC3	CSNK2B	DRD5	ACOX1	PPIL1	SETX	NDUFA2	RNASET2	NDUFAF6	COQ8A	DCTN1	PURA	KCNMA1	CACNA1E	TTPA	MOGS	TMEM67	HSD17B10	NDUFAF4	NEUROD2	MED25	PIGC	ZC3H14	TSEN2	PNPT1	GDAP2	UQCRQ	KARS1	MECR	SARS1	SPOP	JPH3	STN1	SLC20A2	SNCAIP	NHLRC2	ZNF142	NDUFV1	UBTF	BCAP31	AP3D1	IQSEC1	MCOLN1	ATXN1	CARS2	MED12L	ATXN8OS	MBD5	SLC6A8	SEPSECS	CUX1	KIRREL3	TUBB3	POLR3B	CTC1	MBOAT7	TCF4	SCN1A	UBQLN2	FARS2	CRBN	PMPCB	TTC5	SPRED1	EPB41L1	BSCL2	TMEM240	ACER3	VAMP2	CIZ1	MAFB	CHN1	SPR	SAMHD1	MT-CYB	GLB1	MT-TL1	TRIM8	TNIK	B3GALT6	FBXL4	CYP2U1	PLEKHG2	HIVEP2	CRH	UFSP2	NDST1	AARS1	C9orf72	FGFR3	EEF1A2	MTFMT	PSEN1	POLR1B	AARS2	DEPDC5	SYNE1	HINT1	SLC9A6	SPG11	ADH1C	SH2B1	MT-ND2	KIF1C	CYB5R3	NPC1	SLC39A8	AIMP1	VPS35	DOCK8	TGFB2	AGTPBP1	ZC4H2	CHRNB2	TPK1	TREX1	CARS1	UCHL1	ALG9	VAC14	PIGP	SLC25A22	MTO1	NEMF	AP1G1	DNAJC19	STARD7
HP_COMMUNICATING_HYDROCEPHALUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMMUNICATING_HYDROCEPHALUS	FBN1	MAN2B1	SLC2A1	DNAI1	ZBTB24	HERC1	PTEN	TRNT1	GCDH	CDCA7	SKI	DNMT3B	SEC24D	TRIM71	P4HB	MPDZ	HELLS
HP_BIMANUAL_SYNKINESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIMANUAL_SYNKINESIA	NTN1	EP300	IL17RD	DUSP6	DCC	FLRT3	DNAL4	PROK2	FGFR1	NDNF	GDF6	RAD51	ANOS1	SEMA3A	FEZF1	KNL1	SPRY4	HS6ST1	FGF8	CCDC141	FGF17	SOX10	CHD7	CREBBP	TACR3	HESX1	CDH2	SVBP	PROKR2	CEP152	WDR11
HP_MYOCLONUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOCLONUS	LMNB2	DRD2	TIMMDC1	CACNA1I	PIGA	PRNP	SEMA6B	MAPT	SLC2A1	YEATS2	CCDC88A	KCNQ2	CDH15	RAPGEF2	SCN2A	SCN3A	GABRA1	CLCN2	SUCLG1	GABRB2	JAG1	NTRK2	PIGW	SZT2	BAP1	CNPY3	NHLRC1	PSAP	SCN9A	LIAS	MT-TH	SMARCE1	HTT	CILK1	ERBB4	MT-ATP6	UBE3A	MYT1L	ATP13A2	CACNG2	MT-CO1	TRAF7	MT-TP	SIK1	NEU1	MT-TI	ST3GAL3	MT-ND1	ASAH1	TAF1	DOCK7	CSTB	AP5Z1	YWHAG	GLYCTK	GNAO1	SC5D	SYNJ1	ARV1	CNTN2	GOSR2	AKT3	KIF1B	GLRX5	PSEN1	CAMK2B	TXN2	JRK	EIF2AK2	TH	CASR	SLC1A4	SNCA	POLG	GRIN1	ZMYND11	NTNG1	ATP1A2	SDHD	CLN5	MT-TF	CACNA1A	SCN1A	TRPM3	GALC	KCNB1	DLL1	ASH1L	TOMM40	FRRS1L	AFG3L2	ADRA2B	SERPINI1	CACNA1B	CHAMP1	GABRB3	RMND1	UBA5	DEAF1	KCNA1	MT-CO2	SMC1A	ATN1	AMT	GABRD	SMS	SCN8A	MARCHF6	TSPOAP1	PTCD3	NAGA	NARS1	VPS53	MT-TL1	TERT	PDGFB	MTPAP	STAMBP	HMGCL	GRIN2D	SCARB2	ATP6V1B2	GCSH	PIK3CA	KCTD17	FBXO7	CHD2	DHFR	PLA2G6	MRE11	PRICKLE2	EFHC1	ADCY5	CLN3	SLC1A2	EEF1A2	PRKCG	KCNA2	NGLY1	CACNB4	CAMK2A	AARS1	NUP214	KCNQ3	SLC25A46	CHMP2B	TREM2	PPP3CA	ATAD1	OCA2	RORB	CLPB	PPT1	SAMD12	KCND3	SET	ANO3	TOE1	PGAP2	ACTL6B	COQ5	CDKL5	TWNK	DYNC1H1	PODXL	GRM7	BRAT1	GLRA1	NFASC	VPS13D	GUF1	ARX	WDR45	KDM5B	PNKP	APOE	DMXL2	SLC2A3	SETD1B	PLPBP	CYFIP2	SPTAN1	TSEN54	GNAS	CASK	SCN1B	POMGNT1	FOXRED1	SLC13A5	DNM1	GABRA5	PTS	EPM2A	KIF5A	CUX2	CLTC	RAB11A	TBC1D24	CNKSR2	PARS2	MECP2	CSNK2B	NECAP1	ABCD1	GPHN	PSAT1	SATB1	MT-TK	COG8	COQ8A	CLCN4	PHACTR1	CTNND2	STX16	GABBR2	MT-ND4	THAP1	TOR1A	COX4I1	FARS2	AP3B2	CACNA1E	PNPO	YRDC	MT-ND6	PSEN2	TSPYL1	PURA	NEUROD2	IRF4	DNAJC6	INPP5E	ABCA7	QDPR	KCTD7	SLC6A5	BOLA3	KIF1A	GABRG2	TRAK1	TYROBP	NOP56	PCDH19	TBP	MECR	TMEM231	MT-TW	NUP62	PGM3	SLC7A6OS	NDUFA4	GBA	SDHA	NUS1	NF2	GABRA2	CYP27A1	GLRB	PIGL	GRIA3	SMO	FTL	ATP1A3	CDK19	APP	TPP1	CLN8	AKT1	NDUFV1	ATXN2	HLA-DQB1	CARS2	NOL3	MED12L	MBD5	PIGQ	CIC	CACNA1H	PIGV	HCN1	SLC6A1	ST3GAL5	NBEA	CUX1	KIRREL3	SMARCB1	DDC	PRDM8	TCF4	PLCB1	MT-CO3	NKX2-1	GNA11	SUFU	SGCE	KCNC1	EPB41L1	SLC25A22	BSCL2	TNRC6A	GRIN2A	SORL1	CIZ1	GLDC	WWOX	AFF3	TRIM8	SYNGAP1	CELF2	CERS1	PRRT2	GRIK2	HIVEP2	MT-TS2	PET100	CTSF	PGAP3	KMT2B	ATP6V1A	SLC25A10	GRIN2B	C9orf72	RFT1	ADAR	KCNC3	MT-ND5	ATM	MINPP1	ZNHIT3	PRICKLE1	PIGO	KIF1C	TRAPPC12	KCNQ5	NDUFAF3	DENND5A	FGF12	DOCK8	RORA	FGF13	MOCS2	ADSL	CPLX1	AP2M1	DNAJC5	BRSK2	PIGY	DHDDS	DAB1	TAOK1	MAPK10	PIGP	VPS41	MOCS1	HIBCH	CLN6	MT-TQ	STARD7	GAMT	DALRD3
HP_TREMOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TREMOR	SLC6A3	OFD1	NOTCH2NLC	MECP2	SLC9A1	CHCHD2	BRAT1	STUB1	CHCHD10	YEATS2	TAT	MT-ND1	FLVCR1	CEP41	GABRA1	PNP	TMEM67	EIF4H	JAG1	FAM149B1	VPS35	ATP2B3	ERCC3	CRAT	CCDC88C	GTPBP2	TPI1	GCK	TWNK	MT-ATP6	POLR3A	REEP2	PDK3	DLST	NEFL	C19orf12	ASAH1	NIPA1	TAF1	POLG	MYH14	SLC18A2	HPCA	IFIH1	SYNJ1	ERLIN2	ARV1	CNTN2	GOSR2	MT-ND6	TH	SBF2	ERCC5	DNMT1	ATP1A2	DNAJC6	PDGFB	HS6ST1	SCP2	SCN2A	MAPT	ATP1A3	ADRA2B	SLC2A1	SPTBN1	KNSTRN	PLP1	LYST	PLA2G6	CSTB	PPP2R2B	ITPA	FUS	NDRG1	TRAPPC11	GJC2	TUBB4A	CPLANE1	UBA5	DUSP6	SLC39A14	KCNA1	TARS1	POLG2	PSAP	MARCHF6	MRPL12	RAB3GAP2	GBA2	GABRD	TMEM63A	FGF8	METTL27	ALDH18A1	MT-CO3	SOX10	GABRB2	NKX6-2	SCARB2	LRRK2	SNCA	VHL	SPEN	VWA3B	PRKN	SCN1A	DAB1	GCH1	PNPLA6	DCC	ADAR	LEMD3	ATXN7	CACNA1A	ADCY5	ELN	OXR1	GLUD2	SDHAF2	SLC1A2	FMR1	KCNA2	NGLY1	AARS1	VPS13C	SNORD118	INPP5E	PTS	QRICH1	SLC25A13	OCA2	FKBP6	CEP104	GBA	KCND3	ANO3	ACTL6B	RET	HIBCH	SLC6A17	PIK3CA	ERCC6	MICU1	HCN1	CDKL5	BUD23	WFS1	DNAJC30	FGF14	SDHB	PRKRA	SCN9A	SMN2	PNKP	VPS13A	SNX10	NR4A2	PTEN	ARSA	SCN1B	VPS37D	AASS	GABRA5	RARS1	UCHL1	MKS1	ERCC8	CSPP1	SLC1A3	CNKSR2	PARS2	PGAP1	NECAP1	CLTC	PROK2	TMEM127	SLC30A10	GABBR2	CACNA1G	RNASEH2A	TCTN2	NF1	AIFM1	GABRA3	MYL2	VLDLR	QDPR	RFC1	SLC19A3	DDOST	PCDH19	PINK1	CHD2	ITPR1	TBP	CC2D2A	LRP12	KIF1C	MAN1B1	PIGN	THG1L	POLR1C	CTDP1	GABRA2	GPAA1	CYP27A1	TNPO2	UGT1A1	CUL4B	FTL	DNAJC13	DPAGT1	PEX2	HTRA2	ATXN2	PITRM1	PIGQ	MT-CO1	MAG	XPNPEP3	SYNGAP1	MFN2	CLCN7	SLC6A1	DDC	PPP1R15B	ACBD5	PRNP	MSTO1	MDH2	ARX	TNNT1	NKX2-1	TPP1	B9D1	SGCE	ANO10	KCNC1	MPZ	GGT1	COQ2	ERCC4	ERCC2	TMEM106B	TTC19	TBC1D24	PAH	APC2	TMEM216	CTH	ATP6AP2	ABCB4	MT-TT	PIK3R5	AMACR	PCBD1	CELF2	FGF17	CEP126	UBE3A	GRIK2	VCP	MYO5A	CTSF	KATNIP	MORC2	RPL10	STXBP1	KIF7	GSS	BAZ1B	ATM	GABRG2	SDHC	EPRS1	KCNC3	UQCRC1	FAM126A	PANK2	CTLA4	MT-ND4L	MAOA	TCTN3	TFG	RPGRIP1L	ABCB6	PDE6D	HYLS1	SCYL1	TCIRG1	OPA1	SUFU	WDR45	NUTM2B-AS1	ARL3	POU4F1	FH	RORA	FGF13	ABHD12	PDYN	PDGFRB	SDHA	DHDDS	CLIP2	SMN1	SDHD	GTF2IRD1	TRAPPC6B	ATXN10	DALRD3	SACS	WDR81	COA7	NAXE	ALS2	YY1	CEP120	EIF4G1	SEMA6B	CWF19L1	MT-CYB	FRMPD4	PARK7	FXN	GTF2I	CP	NCF1	GPT2	SLC25A11	TIMM8A	SCN3A	NTRK2	TOR1A	SZT2	TRIO	AP2M1	AHI1	DRD3	MPLKIP	DNMT3A	NDNF	TMEM240	MEN1	ATP13A2	GTF2E2	ADA2	ATG7	GALT	RNASEH2C	POLR3B	YWHAG	GNAO1	TSFM	ADGRV1	LRPPRC	TENM4	PRICKLE1	EIF2AK2	SPTBN2	NTNG1	APTX	DARS2	TNFRSF1B	BCL7B	KCNB1	KCNJ18	CHD7	TSHR	MT-ND5	TOPORS	SLC25A4	SQSTM1	NPHP1	PODXL	SMC1A	ATN1	FLRT3	MYOT	KIF1B	DNM1L	TSPOAP1	NARS1	ATP7B	KIAA0586	ZFYVE26	GRIN2D	NEXMIF	TGM6	FBXO7	SPTLC1	SIGMAR1	MRE11	NDUFS2	LNPK	EEF1A2	RFC2	PRKCG	PRPS1	SLC25A46	PROKR2	PRDX1	GRM1	CARS2	KIAA0753	GCDH	COL6A3	SAMD12	FGFR1	ATCAY	NTNG2	COQ5	CCDC141	PDE10A	SIK1	ITM2B	NONO	TK2	GRM7	KCNJ10	NFASC	DMXL2	SLC39A4	MARS1	GALC	AFG3L2	CYFIP2	VPS13D	PMPCA	CASK	ABCB11	GIGYF2	RAB39B	SLC13A5	MMAA	DNM1	PIK3CD	GJB1	ARL13B	TMEM222	ATP8B1	SATB1	SETX	RLIM	MME	COQ8A	DCTN1	CTNND2	SNRPN	BSCL2	AP3B2	TTPA	ADAMTS13	WDR11	LAMA1	MLXIPL	NEUROD2	TRIM8	AKT1	PMP22	RRM2B	IFRD1	NOP56	RNU12	TACR3	CA8	LIMK1	BEAN1	CACNA1S	HMGA2	NR1H4	UROC1	PIBF1	ELOVL5	NUS1	OPA3	FEZF1	TCTN1	SCN8A	SLC20A2	SNCAIP	NEMF	AR	ZNF142	PEX10	MT-ND4	SLC12A6	CDK19	FAR1	NSD1	ATXN1	RNASEH2B	PGK1	SETD2	SEMA3A	CTC1	MYBPC1	TMEM237	TNFSF11	FARS2	IL17RD	GTF2H5	DPM1	CACNA1B	ANOS1	TBL2	PEX6	CIZ1	ADPRS	SPR	SAMHD1	ATXN8OS	VAMP1	WWOX	SPG11	HMBS	THOC2	HTT	OPHN1	ELOVL4	TMEM270	MMACHC	HESX1	CLN5	CBY1	PPP3CA	JPH3	CDH23	STX1A	ATP6V1A	MT-ND2	CD28	C9orf72	SFXN4	TRAK1	RNF113A	NEU1	AARS2	TMEM70	MTFMT	ZFR	UFC1	GTF2IRD2	ADH1C	ARMC9	WARS2	FGF12	SLC5A7	MAX	SH3TC2	ABCB7	TTR	LMNB1	STX1B	SPRY4	LEMD2	CAMTA1	VAPB	PIGP	EPAS1	HNF4A	SLC25A22	TREX1	DNAJC19	STARD7
HP_PARTIAL_AGENESIS_OF_THE_CORPUS_CALLOSUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARTIAL_AGENESIS_OF_THE_CORPUS_CALLOSUM	KAT5	MPLKIP	FUZ	TMEM260	KATNB1	GPSM2	SUPT16H	CENPE	PDHX	GTF2H5	TRAPPC12	TARS1	NSD1	OSTM1	CDC40	CRPPA	ARID1B	GLI2	KIDINS220	RNF113A	GTF2E2	LONP1	MED12	MDH1	CLCN3	LRP2	WDR4	ERCC2	C2CD3	MRPS25	FRMD4A	TUBB3	L1CAM	PDHA1	SLC25A19	TNR	DHCR24	ERCC3	AMER1	LRRC32
HP_LISSENCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LISSENCEPHALY	CIT	FKTN	B3GALNT2	RTTN	NEUROD2	TBR1	MACF1	CEP85L	ETFDH	CCDC88A	ASPM	VLDLR	SRPX2	FIG4	SCN2A	ACTB	LMNB1	DAG1	LARGE1	LAGE3	ACTG1	RXYLT1	EXOSC5	CTU2	VAC14	KATNB1	CEP63	LAMB1	CEP135	ALG12	CDK5	ARHGAP31	PEX13	WDR4	CDKL5	TPRKB	KNL1	FKRP	NSDHL	STIL	CDK6	DCX	PAFAH1B1	LAMA2	CCBE1	EML1	MPDZ	CTNNA2	GNAO1	NUP107	PHGDH	POMT1	AKT3	OSGEP	GPX4	METTL5	TUBG1	CRPPA	TCTN1	PIGQ	VIPAS39	TUBB2B	ATP6V1A	WDR73	TBC1D20	TUBB3	COL4A1	COPB2	GMPPB	ARX	WDR26	RMND1	POMGNT2	NDE1	KCNA1	TRAPPC14	WDR62	KIF14	RAB18	RNU4ATAC	POMT2	CPT2	FAT4	STS	FTO	TCTN2	RTL1	TRIM8	DCHS1	VPS33B	GFM2	PEX10	PIK3R2	POMGNT1	TP73	TMX2	PIK3CA	RAB3GAP1	CENPJ	SNAP29	APC2	RAB3GAP2	TMTC3	OCLN	TUBGCP6	MCPH1	ADAMTS3	TP53RK	NUP133	KIFBP	ISCA1	ATR	KIAA1109	MEG3	ETFB	POMK	SIK1	MFSD2A	PI4KA	HIC1	GRM7	TAF13	PNKP	DMXL2	ZNHIT3	FLI1	LAMC3	SLC25A19	TUBA1A	PYCR2	CEP152	CASK	SCN1B	TUBGCP2	PDHB	SASS6	ATP6V1E1	B4GAT1	CRADD	DHCR24	RELN	ATP6V0A2	DYNC1H1	NARS1	PHC1	CSNK2A1	FOXG1	ADGRG1	KIF2A	PSAT1	DLK1	CDK5RAP2	YWHAE	NEK1	PIGP	PRKDC	ETFA	ANKLE2	NCAPD3	SLC25A22	MLYCD
HP_CEREBRAL_HEMORRHAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_HEMORRHAGE	NF1	NDE1	ENG	FN1	VHL	CST3	RET	SDHD	COL4A1	CFH	JAK2	APP	FGA	CCM2	SDHAF2	SDHB	ABCC6	SLC25A11	SH2B3	KRIT1	MAX	NOTCH3	SMARCB1	FH	FGG	ACVRL1	F13B	STAT2	MDH2	BAP1	CD46	CPT2	ADA2	SUFU	KIF1B	SMARCE1	GDF2	HELLPAR	DNMT3A	NF2	FCGR2C	SDHA	DLST	TMEM127	PDCD10	BRCC3	CFI	SDHC	TRAF7	TERT	USP18	EPAS1	F13A1	FGB	PDGFB	SMO	PROS1	COLGALT1	SMAD4	AKT1	PIK3CA
HP_ABSENT_SPEECH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_SPEECH	FKTN	TRAPPC11	UNC80	MECP2	ZEB2	CLIC2	BRAT1	POLR3K	MACF1	EXOSC3	DPM2	CCDC88A	SHH	FRMPD4	CDC42	TAF2	TBCD	MRPS34	LMNB1	TGIF1	RAB11B	YY1	GABRB2	PYCR2	TOR1A	TRIO	EXOSC5	SATB2	PIGW	ODC1	GRIK2	ISCA2	NCAPD2	CDON	FOXH1	SMARCA4	UBE3A	FGF8	RPL10	FGFR1	PACS1	CASK	ATG7	STRADA	TOGARAM1	NACC1	SERAC1	CNTNAP2	CTNNA2	FOXG1	TDGF1	RNU7-1	ERLIN2	RAC1	SLC12A2	WAC	TIMM50	SMC1A	NEDD4L	SNX14	NALCN	CNNM2	RHOBTB2	PUS3	SMARCB1	EIF2AK2	IQSEC1	AIMP2	GRIN1	SETBP1	PPP2R1A	DARS2	STIL	SLC33A1	TRAPPC2L	CLCN3	VPS11	COPB1	FRRS1L	ARID1A	SIX3	SPTBN1	ASPA	KARS1	CPLX1	CHAMP1	TCF4	CACNA1B	MDH2	SLC6A3	WDR26	ATP10A	RMND1	PTCH1	SOX11	MED25	ZIC2	SLC2A1	PIGV	TELO2	PRDM16	DNM1L	SMS	ARID1B	POGZ	MRPL12	ZSWIM6	DEGS1	CSPP1	SMARCE1	DISP1	DALRD3	GABRG2	GRIN2B	TMCO1	MAGEL2	DYRK1A	TCTN2	MFF	ACTL6B	PIGP	SPEN	PIGF	ALDH18A1	TMEM231	EEF1A2	RERE	TRRAP	VPS4A	C2CD3	LIPT2	LNPK	ASH1L	DHX30	NGLY1	TMTC3	POMT1	SYT1	COG8	UBE3B	GRM1	CARS2	OCA2	CREBBP	BMP4	KCTD7	MCOLN1	SMARCD1	TOE1	SPATA5	DCPS	SLC6A17	USP27X	NTNG2	CAMK2A	GAS1	GOT2	TBC1D20	PPP3CA	GMPPB	ALG11	WDR37	PLP1	DNM1	MSL3	NR2F1	ADARB1	DLL1	NODAL	HNRNPH2	SMARCA2	VPS41	GRIA2	EP300	ARL13B	GPT2	FGF12	TFE3	FRMD4A	IQSEC2	PGAP1	IARS1	NEXMIF	DAG1	ASXL3	SATB1	PPIL1	UBE2A	GNAO1	COG4	KCNQ5	CCND2	OTUD6B	SNRPN	CACNA1E	TUBA8	PARS2	UFM1	SUPT16H	HSD17B10	RALA	ARID2	ZBTB18	CAMK2B	TRIM8	BCAS3	TRIT1	ALG14	TKT	PIGG	PNPT1	RARS2	STAG2	CYFIP2	ATP6V1A	UQCRQ	VPS33A	LAS1L	INTS8	PIGN	PRKCZ	HIKESHI	KIF1A	WARS2	UGP2	KCNB1	KCNH1	UBE4B	FKRP	SOD1	TNPO2	USP7	PPP2R5D	GLI2	KAT6A	CUL4B	ELP2	PGAP2	HUWE1	MINPP1	DPAGT1	DOLK	UBTF	PURA	AP3B2	LINGO1	DEAF1	CHMP1A	BCL11B	SLC35A2	KIF5C	RALGAPA1	SOX4	TBL1XR1	SLC1A4	KCNAB2	SMARCC2	UBA5	IREB2	CNKSR2	ST3GAL5	PIGS	MMP23B	PRPS1	KIF15	SCN1A	MBOAT7	HERC1	FARS2	PDPN	PMPCB	HNRNPU	POMT2	HIVEP2	KCNA2	GRIA4	ADSL	HSPG2	GNS	HTT	GSX2	DPYD	KIAA0586	CCDC47	SIK1	NTRK2	NCAPG2	SPTBN4	DPF2	GNB5	MPDU1	SCN3A	STXBP1	KIAA1109	SRCAP	OPHN1	WDR45B	SYNGAP1	CLP1	CASZ1	SLC25A12	ACOX1	SLC9A6	SHROOM4	UFC1	MFSD2A	GFM2	YME1L1	DENND5A	SLC1A2	CLCN4	LUZP1	WDR45	GEMIN4	KCNJ10	INTS1	TANGO2	RAB3GAP2	CSNK2A1	PIGA	TBCE	TREX1	GABRD	SKI	IFIH1	EARS2	GRIN2D	DPYSL5	WDR4	EXTL3	NFIX	ZC4H2	KLHL15	GABBR2	LARGE1
HP_PSYCHOTIC_MENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSYCHOTIC_MENTATION	CRH	CHRNB2	MT-ND6	CHRNA2	FRRS1L	MT-CO2	MT-TH	GSS	CABP4	MT-TL1	MT-CO1	MT-TF	KCNT1	DEPDC5	MT-ND1	MT-ND4	ALDH4A1	MT-ND5	USP8	MT-TS2	FIG4	MT-TQ	GRIN2A	AIP	CHRNA4	MT-TW	MT-CO3	MTHFR
HP_HYPERREFLEXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERREFLEXIA	IL12A-AS1	ELN	PROM1	IL12A	MECP2	DCC	NALCN	MT-TE	CHCHD2	BRAT1	SLC2A1	STUB1	EXOSC3	PRSS12	OPA3	NT5C2	TAF2	SUMF1	FANCC	PLA2G6	TRAPPC11	ATXN1	EIF4H	ERCC3	FANCF	EXOSC5	NDUFA10	ERCC4	MORC2	CRAT	FANCD2	MAB21L1	CCDC88C	GTPBP2	MT-TN	ERAP1	ISCA2	MT-TK	POLR3A	HTT	MT-ATP6	GARS1	TRAF3	ALS2	STIL	SPG7	C19orf12	CHP1	LRAT	NIPA1	SLC7A14	PCLO	PCARE	STAT4	SLC6A9	CTNNA2	GLYCTK	TBX4	ERLIN2	CLP1	SLC52A3	TIMM50	KATNB1	GLRX5	HGSNAT	NRAS	CAV1	PUS3	COQ9	UNC93B1	DNMT1	MAD2L2	RTN2	FANCA	PDGFB	GALC	PEX6	PSAP	PET100	ATP1A3	SPTBN1	ASPA	AP4E1	COPB2	RAB3GAP1	PPP2R2B	FUS	SPG21	SLC39A14	PEX3	RNASEH2C	TARS1	AMT	GRID2	WDR62	PLP1	CRX	GBA2	MARS2	METTL27	ALDH18A1	CREBBP	ARL6	MTPAP	MT-TL1	NKX6-2	PEX11B	VAMP1	TCTN2	LRRK2	REEP1	GUCA1B	MT-ND1	PKDCC	SLC44A1	VWA3B	CERKL	DYNC1I2	PRKN	RP1L1	CADM3	NDUFV2	AUH	GCH1	POMGNT1	TMX2	NDUFA4	ATXN7	CACNA1A	ADCY5	SAMD9L	MAN2B1	FLRT1	CIT	PEX13	LBR	VPS13C	KCNQ3	PTS	CHMP2B	MCPH1	DDHD1	ATAD1	OCA2	NDUFAF2	FKBP6	CLPB	CSF1R	TBK1	RAB18	NSD1	AGBL5	KIF1A	KCND3	RUSC2	HIBCH	PEX16	MTRFR	SLC33A1	ERLIN1	POMK	MICU1	ATP5MK	ZFYVE26	BUD23	PEX10	PCDH12	NDUFA12	FANCE	BICD2	MSL3	PRCD	DNAJC30	PRKRA	ARX	MFF	GFM1	PLPBP	CNP	HSPD1	PYCR2	VPS37D	AASS	SLC16A2	TUBGCP2	RNASEH1	PSEN1	C4A	RARS1	UCHL1	DHDDS	ARL2BP	SLC25A21	L1CAM	B4GALNT1	SIGMAR1	PIGT	ERCC8	SPAST	TNR	DSTYK	SLC1A3	MT-ND6	SLC29A3	PGAP1	EP300	ADGRG1	ABCD1	PSAT1	ERCC6	TFG	AP4M1	ECHS1	ATL1	XRCC2	HPDL	MATR3	SEMA4A	COX4I1	SLC19A3	KCNA1	COX15	BRCA1	PRPF31	PARS2	PRPF3	MYL2	BCAS3	SETX	SNRPN	HTRA1	VLDLR	WASHC5	TICAM1	IFT140	SLC6A5	CYP7B1	AIFM1	TRAK1	PINK1	ITPR1	SDHA	OSTM1	RP1	DLAT	CC2D2A	NUP62	KIF1C	GM2A	FGF13	CACNA1G	PIGN	JAM2	INPP5E	HIKESHI	WARS2	NEFH	UGP2	AP4B1	GPAA1	KNL1	CYP27A1	KPNA3	SOD1	GLRB	PEX5	ELP2	FTL	DPAGT1	MCCC2	UBAC2	TACO1	IFT88	DKK1	FAM161A	SLC1A4	METTL5	PALB2	MKS1	PDE6A	PPP1R15B	SPTAN1	PITRM1	IREB2	ATXN10	KLHL7	DHX38	MFN2	NDUFS8	FANCG	OCRL	PEX19	DDC	SELENOI	PRDM8	ROM1	PRNP	PRPS1	VPS37A	GAN	RDH12	TPP1	PRPF6	CCR1	ANO10	DDHD2	SLC25A22	ATXN2	NDUFS1	BSCL2	SQSTM1	COQ2	ERCC2	TMEM106B	TTC19	PAH	SNRNP200	ALG3	VPS11	GAD1	HPRT1	PRPH	MED17	NTRK2	UBE3A	MRPS25	SDHB	KCNT1	TREX1	GRM7	PC	CA8	ACSL4	KLC2	CTSF	UBAP1	VRK1	RBP3	SLX4	UGDH	AMPD2	PNPLA6	PRPH2	SAG	POMT2	MYORG	DGUOK	ATXN3	TAF1	BAZ1B	RFT1	RNF2	RHO	KCNC3	FAM126A	BEST1	EIF2S3	AP4S1	MFSD2A	MERTK	ABCC8	SLC25A12	PANK2	MT-TV	NOP56	MAT1A	ATP13A2	CNNM2	NDUFS2	GJC2	CEP152	ZNF513	ATP1A2	HTRA2	ABCB7	WDR81	UBE2T	SCYL1	RP9	PRUNE1	OPA1	FSCN2	DENND5A	GLUL	TTC8	MT-ND4	FBLN5	SPG11	TANGO2	SLC35C1	SEC31A	ADSL	ABHD12	CLRN1	SLC25A15	ALG11	PDYN	AAAS	PEX12	TULP1	RFWD3	PDGFRB	MT-ND5	CRB1	TOE1	ATP6AP2	CLIP2	PRKCG	EXTL3	NCAPD3	FAS	GTF2IRD1	TRAPPC6B	TMEM67	GAMT	SPART	HARS1	TREM2	SLC6A19	SEMA6B	RAD51	NDUFA13	CWF19L1	GBA	CCDC88A	KCNJ6	FRMPD4	PARK7	KIZ	KCNQ2	MT-ND3	KIDINS220	GTF2I	NEK2	TBCD	NCF1	GPT2	MRPS34	TIMM8A	ZNHIT3	NEK1	NDUFS7	HLA-B	CEP63	IMPG1	MPLKIP	COX5A	SACS	MT-TL2	FOXRED1	SURF1	MAPT	GTF2E2	PEX14	NEU1	ARL6IP1	JAM3	PMP22	KY	FANCL	AP5Z1	FA2H	TSEN15	VCP	POLR3B	GCLC	REEP6	FDX2	GLE1	KDM5C	SLC12A2	SPTBN2	SNCA	GRIN1	ABCA4	WDR73	BCL7B	NDUFS4	SMG9	NDP	LYRM7	PEX1	RUBCN	CCT5	SPATA7	DNAJC6	GJA1	TH	NDE1	PODXL	ATRX	AUTS2	DNM1L	TSPOAP1	KIF14	TRMT5	NARS1	CYP2U1	POU3F4	BBS2	MT-TW	TLR3	FANCB	ZEB2	ALG9	FANCI	ACTA1	TGM6	PIGP	GCSH	CNGB1	FBXO7	HEXB	SPTLC1	MRE11	IBA57	ZNF408	NSUN2	CA4	SLC46A1	CENPJ	TLR4	RFC2	PDE6G	MICOS13	NDUFA9	SLC25A46	PRR12	GRM1	ATP8A2	ISCA1	CPT1C	CLDN11	IMPG2	RGR	CASK	CDC40	CDHR1	MCOLN1	COQ5	SCAPER	CNTNAP1	AFG3L2	PI4KA	OFD1	RAD51C	EYS	PRPF8	GLRA1	NFASC	CLTRN	APOE	SLC2A3	RPGRIP1L	VPS13D	ARHGEF18	IFNGR1	PMPCA	CAPN1	DCTN1	PEX26	SASS6	TUB	PLCB1	COG5	IFT172	PDE6B	LINS1	PDHA1	GJB1	EXOSC9	PPIL1	RLIM	NDUFA2	ERCC1	SDHAF1	COQ8A	IL23R	BRCA2	CFAP418	SDHD	ANKLE2	BCS1L	PRRT2	PQBP1	REEP2	CACNA1E	PPOX	MLXIPL	NDUFAF4	ABAT	USH2A	KRAS	ASPM	GRN	USP8	SEPSECS	SRPX2	IFRD1	FARS2	TSEN2	RARS2	GDAP2	NR2E3	CYFIP2	RP2	LARGE1	LIMK1	ATP6V1A	BEAN1	UQCRQ	KCNK4	GNAQ	MECR	NDUFAF5	IMPDH1	PGM3	CEP135	IER3IP1	C9orf72	ARSA	JPH3	PDE8B	SLC20A2	KIF5A	CDK6	AHR	MSTN	HUWE1	NDUFV1	DARS2	FAR1	CHMP1A	NONO	IDH3B	MEFV	SPTLC2	ATXN8OS	EGF	MCCC1	GEMIN5	TTBK2	PAX1	ST3GAL5	EYA1	GMPPB	GPHN	NUBPL	RPE65	SCN1A	MBOAT7	NAGA	GTF2H5	DPM1	TRAPPC14	GNB2	PCYT2	NRL	PEX2	IDH3A	OCLN	TBL2	NOTCH2NLC	GLDC	TOPORS	DYM	TUBB2B	ASNS	QARS1	HRAS	FANCM	NDUFAF6	EEF2	ELOVL4	DPYD	WWOX	NDUFS3	ZFYVE27	TMEM270	BRIP1	EXOC8	IL10	KDM1A	CLN5	COG4	STX1A	MAK	KIAA1549	LIPT1	ADAR	POMT1	MTFMT	RPGR	ARL3	RNF113A	SLC18A2	CNGA1	LMNB1	SYNE1	SIK1	ZFR	MINPP1	TAF13	UFC1	GTF2IRD2	FKRP	DARS1	GMPPA	MT-ND2	GFM2	NDUFAF3	SLC39A8	TRMT10A	ALG2	UROC1	SYNJ1	KLRC4	PHC1	PIGA	SHMT2	AP1S2	CARS1	PRPF4	CDK5RAP2	SPR	PAK3	CAMTA1	COX10	RLBP1	VAC14	WDR4	ACOX1	NARS2	ZC4H2	AHI1	BCAT2
HP_BRISK_REFLEXES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRISK_REFLEXES	PKDCC	ELN	PARK7	SPG11	ALS2	DARS1	CNP	SPTLC1	ALDH18A1	SIGMAR1	CADM3	PMPCA	AASS	PPP1R15B	TUBGCP2	PITRM1	TBCD	GEMIN5	GRM1	C19orf12	FBLN5	TRMT10A	MRPS25	LYRM7	SPTBN1	COG5	SPAST	FUS	ADSL	SCN1A	PRR12	GCH1	COX5A	IER3IP1	TH	JAM2	VCP	NDUFA4	MT-TL2	MT-TN	SLC16A2	PPIL1	CARS1	TSPOAP1	CDC40	BSCL2	GBA2	COQ8A	PAK3	HARS1	REEP1	CAMTA1	COQ5	COX10	ATP13A2	MSTN	ANO10	FTL	MT-TL1	BCAT2	GLE1
HP_FACIAL_DIPLEGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_DIPLEGIA	NEB	SLC52A3	LMOD3	DMPK	TPM2	CRPPA	TPM3	KLHL41	ABCA1	POMT1	ACTA1	TTN	CFL2	SPEG	RRM2B	YME1L1	SRPX2	RYR1	FKRP	SCO2	CRYAB	FKTN	CNTNAP1	VCP	ZFHX4	MYPN	MPZ	KBTBD13	ADCY6	SUCLA2	TK2	MTRFR	SLC25A4	BIN1	KLHL40	ADGRG1	SHMT2	TWNK	POLG2	COL25A1	SOST	POLG	PI4KA	SLC12A6	GLE1
HP_SLURRED_SPEECH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLURRED_SPEECH	KCNA1	SPTBN2	GLB1	EZH2	MAPT	SETD2	TBC1D2B	VPS13A	GALC	ATXN1	ZNF365	MT-TK	ATP6AP2	PRNP	ABCD1	SLC1A3	GRIN2A	DNAJC6	KCND3	SPART	ACOX2	DARS2	SPG7	TNFSF4	P2RY11	NEU1	CWF19L1	MOG	HLA-DQB1	ANO10	ITPR1	HLA-DRB1	CTSH	CA8	HCRT	ATP6V0A2	PODXL	SYNJ1	FASTKD2
HP_MEGALENCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEGALENCEPHALY	TSC1	AKT3	DISP1	GLI2	DLL1	PIK3R2	CCND2	PTEN	TSC2	MTOR	RAB39B	PIK3CA	STRADA	HRAS	CDON	SMO	HEPACAM	FGFR3	NODAL	NPRL2	STIL	ASPA	CRADD	TDGF1	SIX3	TBC1D7	SHH	GAS1	HERC1	FOXH1	PTCH1	KRAS	SMS	ZIC2	DEPDC5	NRAS	IFNG	NPRL3	MLC1	FGF8	FGFR2	TGIF1
HP_PLAGIOCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PLAGIOCEPHALY	ERGIC1	SMC3	PKDCC	HRAS	RTL1	MAF	SUPT16H	UNC80	KAT6A	ADNP	ADAT3	B3GALT6	FGFR3	POLR2A	ADAR	RAC3	KRAS	INPP5E	FBXL4	KIDINS220	CCDC47	HERC2	TBCD	PPP2CA	NLGN4X	USP7	TBC1D24	CYFIP2	FBXO11	PPP2R5D	PHF21A	FGFR2	COL11A2	PIGW	PGAP3	ERF	SET	UGDH	CNOT3	ALG12	BMP4	CASK	KIAA1109	TWIST1	PGAP2	MEG3	LMX1B	PIGL	PPP2R1A	KMT2C	MIR140	SALL4	ERMARD	MADD	ZBTB20	RNASEH2C	ARID1B	SLC26A2	ZNF699	IFIH1	ARID2	ADARB1	NONO	MBTPS2	DPYS	CA2	RNASEH2B	PCGF2	NALCN	NRAS	MED13L	EMC10	EFNB1	PIGO	WDR35	FKTN	ZIC1	PRUNE1	PIGV	HEPHL1	MED12	CLCN3	RAC1	TCF12	SPTBN1	TUBB3	SMARCA2	ZNF292	DHX37	CHSY1	TCF20	MYMK	FAM20C	DYNC1H1	PPP3CA	NEPRO	MESD	STXBP1	DLK1	DPYSL5	PIGY	PIGQ	PPP1R21	WBP11	EIF5A	MN1	MAPK1	RNASEH2A	AGO2	AFF4	COL11A1	EHMT1	TREX1	MAFB	CHN1	NFIX	ATP6V1B2	SAMHD1
HP_HOLOPROSENCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HOLOPROSENCEPHALY	B9D2	FGFR1	GAS1	SMC1A	DHCR7	GLI2	FGF8	RAD21	SHH	POMT1	SOX2	RTTN	CEP290	RB1	GLI3	TMEM216	POMT2	GMPPB	BUB1B	L1CAM	CNOT1	C2CD3	PTCH1	LARGE1	ZIC2	TMEM107	SIX3	FGFR3	LHX4	FKTN	TCTN2	BUB1	B3GALNT2	TDGF1	TMEM67	VANGL2	POMGNT1	SEC31A	OTX2	RPGRIP1L	CDON	WDR81	MKS1	PROP1	PRRX1	TRIP13	GPKOW	CC2D2A	B9D1	CSPP1	SUFU	NODAL	CHD7	TGIF1	TMEM237	RPGRIP1	POU1F1	FKRP	DLL1	TCTN3	SEMA3E	BUB3	FOXA2	FOXH1	MTHFR	PPP1R12A	HOXA2	STAG2	CEP57	TXNDC15	CILK1	DISP1	TCTN1	HESX1	TMEM231
HP_NYSTAGMUS_INDUCED_HEAD_NODDING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NYSTAGMUS_INDUCED_HEAD_NODDING	BCL7B	TMEM270	GTF2I	NCF1	MLXIPL	METTL27	GTF2IRD2	FKBP6	TBL2	CLIP2	RFC2	STX1A	BUD23	GTF2IRD1	LIMK1	EIF4H	VPS37D	DNAJC30	BAZ1B	GPR143	ELN
HP_CALVARIAL_SKULL_DEFECT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALVARIAL_SKULL_DEFECT	EOGT	PIGG	LETM1	NOTCH1	ALX4	ITGB4	ARHGAP31	CPLX1	DOCK6	FREM2	COL18A1	UBR1	HSPG2	BMS1	NSD2	PLEC	DLL4	LBR	GRIP1	CTBP1	RBPJ	WNT7A	FRAS1	NELFA
HP_CRANIOSYNOSTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRANIOSYNOSTOSIS	ORC1	COMT	KAT6A	COLEC10	DONSON	ALX4	ORC4	CDC6	KRAS	RTTN	ATR	IFT122	MSX2	KANSL1	RAC3	ESCO2	IL6ST	TCIRG1	CEP120	TBC1D24	CTCF	CTSK	ERF	CEP152	KRT5	MEGF8	YY1	SLC39A8	FGFR2	SLC12A6	AHDC1	ERCC3	TBX1	TCF12	MPLKIP	WDR19	FGFR1	TWIST1	RSPRY1	DMP1	ARVCF	TGFBR2	GTF2E2	SCUBE3	NFIX	CDH11	ALPL	UFD1	HUWE1	SEC24D	COLEC11	CCBE1	NSD1	ZNF699	CENPE	BPNT2	PIGT	CHST3	MID1	SLC25A24	STAT3	FGFR3	B4GALT7	HIRA	RECQL4	GLI3	EFNB1	POR	SETD2	WDR35	ZEB2	CYP26B1	FBN1	SKI	CLCN7	TGFBR1	DSE	GPC6	TANC2	CDC45	SMO	TNFSF11	IFT140	GTF2H5	TARS1	NSUN2	RAB23	IFT43	SMAD3	SEC24C	ERCC2	GNPTAB	TMCO1	RBBP8	MASP1	AKT1	ATP6V1B2	MAF	APC2	CENPJ	ZIC1	B3GALT6	ENPP1	SPECC1L	NUP85	DPH1	GMNN	FAT4	EXOC8	HNRNPK	ATRIP	LIG4	B3GAT3	ADAMTS3	MYH3	IRX5	BMP4	SCARF2	P4HB	GLIS3	SMAD6	OTUD5	LRP5	RNF113A	SON	CHST14	MAN2B1	PHEX	POLA1	KPTN	KRT14	PLK4	SLC2A10	PCNT	JMJD1C	TLK2	SNX10	SH2B1	AASS	PPP1CB	CCNQ	SETD1A	IFT52	SLC35A2	PTEN	IL11RA	FLNA	PPP3CA	TRAIP	PIGO	PSAT1	MAP3K7	MED12	LEMD3	B3GLCT	FLNB	RREB1	CDT1	CEP57	EXTL3	GP1BB	DPF2	CWC27	ORC6
HP_ABNORMAL_JOINT_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_JOINT_MORPHOLOGY	IL12A	UMOD	GNA11	AGRN	PYROXD1	DDRGK1	RTTN	XYLT1	SALL4	RRAS	NLRP3	COL1A2	RAC3	GPC3	F2	IL6ST	NKX3-2	BCOR	FLVCR1	HSPG2	SPRTN	CHSY1	TGIF1	SOS1	TCF3	SELENON	RUNX2	TGFB1	ERCC3	FANCF	ERCC4	FANCD2	FBLN5	BMPR1B	FZD2	IGHMBP2	IRF6	PRMT7	CHRNG	TBCD	LAMA2	DMP1	NEFL	CCN2	COLQ	NADSYN1	NHP2	LMNA	FGFR2	LTBP1	STAT4	POGLUT1	PSTPIP1	CDON	TNNI2	HPGD	HOXD13	DHODH	MVK	LRRC8A	GMNN	LAMC2	NTN1	CLCN5	NRAS	IGHM	PUS3	FLNC	GLI3	CENPT	COLEC10	RMRP	ATP6V1A	MAD2L2	KIDINS220	NALCN	FANCA	GALC	CLCN3	CHEK2	CAV1	NIPA1	RAB3GAP1	BRAF	IL1RN	NIPBL	CD96	FLNA	SIX3	SLC39A14	SOX5	TARS1	TONSL	CSPP1	ALX3	DISP1	GATA1	ZDHHC9	TGFBR2	GNPTAB	PTRH2	DYRK1A	HBB	APOE	FIG4	ALDH18A1	RPL13	ZPR1	PKDCC	LACC1	SLC35A3	PLOD1	NEDD4L	ADAT3	GDF5	SCN1A	LONP1	RTL1	KAT6B	RAD21	CHRM3	SLC12A1	VPS13B	SNRPN	TBX1	F5	COL9A1	KRAS	COL2A1	FGFR3	COL1A1	ADAMTS3	MEGF8	SIK3	OCA2	GCM2	FGF8	COL9A2	PIGL	SLC26A2	PEX5	TNNT3	NT5C2	CSGALNACT1	GDF3	RETREG1	GAS1	EMG1	HCN1	FKRP	MAGEL2	COL13A1	WDR19	BUD23	MKKS	DPAGT1	FANCE	DNAJC30	SPTB	SCN9A	CHRND	SPTLC1	LGI4	RAG1	LMBR1	NLRP1	FLI1	VPS13A	CCR6	DCLRE1C	CRLF1	GNAS	PTCH1	PPP1CB	HACD1	GGCX	MASP1	NOG	OSGEP	PIGT	SPAST	DSTYK	F13A1	EP300	ABCD1	GPHN	CHST3	HLA-B	IFT172	GLA	WNT7A	WDR35	AFF4	RECQL4	BRCA1	MYOD1	PYCR2	POLR3GL	EFL1	DYNC2I1	FCGR2A	HDAC8	KRT14	FLNB	COMP	AIP	G6PC1	ASAH1	SMOC1	PRPS1	SLC6A5	CYP7B1	AIFM1	CTBP1	STAG2	SLC40A1	MBTPS2	GLB1	ACTG1	COL11A2	COL5A2	TFAP2A	F13B	COL12A1	BICD2	VWF	FGF13	ALG12	SLC16A2	RAPSN	TPM2	ACTA1	FANCI	MAFB	CYP27A1	LZTR1	KNSTRN	UROS	SOD1	SHOX	GJA1	CBS	ACTG2	IRAK1	UFD1	EMD	GORAB	F9	CCBE1	PSENEN	GHR	GBA2	ITGA6	TRPV4	TMEM70	SYT2	GPX4	XPA	TFAP2B	TRAPPC2	KCNAB2	FHL1	SF3B4	GLI2	COG1	MYH3	NUP107	STAT3	GLI1	OCRL	IHH	DSE	SELENOI	FN1	CNTN1	UBR7	PSMB4	SLC25A46	SETBP1	SHH	MAP3K7	GSC	REEP1	MYL2	SCN2A	RAB23	MAPK1	MUSK	NEB	PAFAH1B1	XPC	CD79B	NODAL	KIF1A	AFF3	TBC1D2B	CPLX1	HPRT1	ESCO2	MESP2	VAMP1	ANKRD11	MEGF10	BPTF	B3GALT6	PTH1R	SPTBN4	GMPPB	RB1	XRCC2	DLL3	BAZ1B	MEG3	TP53	HGD	EBP	TCTN3	HS6ST1	WIPF1	RNF168	LBR	MYBPC1	GPR101	SYK	ATP6V0A2	ROR2	SCN1B	ATL3	HLA-DRB1	CLCF1	TCF12	WNK1	ATP7B	UBE2T	CHST14	TBX4	TNFRSF1A	C12orf57	ASXL3	FBN1	PTEN	JUP	KRT5	RTN2	SEC31A	RYR1	TPM3	TRAPPC12	MED12	NSD1	RFWD3	ANKLE2	PLOD2	B3GLCT	MAP1B	WDR73	DAG1	ERCC2	CLIP2	TRIM2	SERPINF2	ACAN	FAS	GTF2IRD1	BTK	ADAMTSL2	IRF5	PRKACB	EPCAM	CDC6	TWIST2	SFRP4	HK1	KANSL1	COL6A1	AP4B1	GTF2I	ARSL	TIMM8A	PAX3	SATB2	IGKC	GPC4	MPLKIP	SLC25A1	SERPINF1	PTPN22	CANT1	FBN2	SPP1	LPIN2	MMP13	FOXH1	DCC	GDF6	UBE3A	CASP10	SYNE2	COL6A2	MYO18B	KY	COLEC11	NTRK1	FA2H	RNASEH2C	SMAD3	PTCH2	LMAN1	ADGRV1	SH3KBP1	SMC1A	NOP10	TDGF1	FGF16	FUT8	SLC18A3	MRAS	ZEB2	GABRG2	MKRN3	MYH7	COL9A3	TREX1	HNF1B	CCN6	ATRX	AUTS2	PIGV	PRDM16	ASPN	ARID1B	SPTA1	PIGN	PTPN11	DNAJC21	POU3F4	TF	IGLL1	NSD2	GLE1	COL11A1	FGFR1	LRBA	ATP7A	ALG14	SAMHD1	FGD1	ASXL1	RERE	EXTL3	MEFV	TMEM251	USP9X	TLR4	SIL1	RAB3GAP2	FKBP10	SERPINE1	PTPN2	PRR12	KIF22	GJB2	DOK7	ELN	BMP4	KCNJ1	MACROH2A1	ERCC5	ATR	PHEX	AP3B1	CYP2R1	ANO10	NONO	RAD51C	CDH3	NOD2	GLRA1	EVC	F10	IFNGR1	CDT1	PLOD3	ECE1	MAF	THRA	ELP1	LMX1B	SALL1	PIK3CD	NUP88	ADAMTS2	TGFBR1	TRPS1	TWIST1	SYNE1	PIEZO2	ARSB	DYM	TMEM222	SKI	ANKRD55	PYCR1	SDHAF1	CHRNA1	IL23R	BRCA2	AEBP1	F8	FGF9	MLXIPL	SUFU	TNFAIP3	MCTP2	CD79A	APC	ABCC6	FBXW11	GJC2	BTNL2	LARGE1	TMEM67	PLEC	LAGE3	POFUT1	PSMB8	VAC14	PUF60	BGN	KMT2D	KLHL9	NF1	DLL1	UBE4B	IL10	WRN	KIF5A	ARVCF	SUZ12	SNAP25	CREBBP	NOTCH2	RAD51	IDH1	CHMP1A	MYO9A	RNASEH2B	LAMB2	DKC1	POR	SHOC2	TBX15	NPR2	ERCC6	PLEKHG5	EYA1	CTC1	MYOT	GPC6	MMP23B	GDAP1	NIN	GUSB	CLCN7	GTF2H5	NAA10	PNPT1	UPF3B	COL27A1	RPL26	MUC1	IFT57	CHN1	PRKACA	MPZ	TIMM22	HRAS	CTLA4	CDC73	PIK3R1	COL10A1	SPG11	ALX1	FGFRL1	CUL7	SPEN	PI4KA	HTT	RPS15A	STAG1	ZFYVE27	CCDC47	ENPP1	ZIC2	BRIP1	FAT4	PPP2R5D	LAMB3	SSR4	OFD1	CPT2	NUP133	SETD2	ZBTB20	NDUFAF6	STX1A	RAB33B	SCARF2	SRCAP	ATL1	COL3A1	EFNB1	CYP27B1	CHST11	COL7A1	EVC2	HLA-C	HINT1	DHCR24	CAPN1	JMJD1C	SHROOM4	BCR	GTF2IRD2	MIR140	MTX2	WAS	PRKCD	DMD	LETM1	RNU4ATAC	DNASE1	LUZP1	HES7	MAP2K2	TGFB2	CTNS	KLRC4	COL5A1	HOXA13	PEX6	EZH2	HFE	JAG2	CARS1	GABRD	TBX5	MMP14	PCNT	TMEM218	TNFSF11	ORC4	ADGRG1	L1CAM	NFIX	ITGB4	IL12A-AS1	UNC80	MECP2	NDN	STUB1	EXOSC3	AGA	RIT1	KLHL41	FANCC	CEP120	GABRA1	EIF4H	DNAL4	IDUA	TTC26	LIFR	ERAP1	MYLPF	DYNC2H1	WDR4	RSPRY1	LRP6	CRKL	MYH14	MLX	ARNT2	SLC6A9	IFIH1	SMC3	SEMA3E	ERLIN2	BHLHA9	B4GALT7	SOX2	C19orf12	ERCC1	SMARCAL1	DNAJB11	GFPT1	STIL	CYP26B1	SPTBN1	TNXB	DSP	KDM6A	DYNC2LI1	COL6A3	ECEL1	MIF	MATN3	TELO2	PITX1	GNE	METTL27	SLCO2A1	FGB	NPAP1	DHCR7	PRG4	ERGIC1	IDS	BAG3	CADM3	PIK3R2	GALNS	ADAR	FERMT1	SAMD9L	GBA	AP2S1	NGLY1	FGG	SLC4A1	BMP1	UBE3B	RIPPLY2	ATAD1	FKBP6	BRD4	RAB18	SRP54	KCNK9	TGDS	ERLIN1	ANAPC1	SLC2A10	TFR2	FRZB	CLTCL1	SOX9	VPS37D	LOXL3	NLRP12	IARS2	C4A	FDFT1	UCHL1	PTDSS1	HYAL1	PHF6	CCDC8	TFE3	EIF2AK3	SNORD115-1	ANKH	ANTXR2	PSAT1	TUBB3	AP4M1	ANK1	ZIC1	ORC6	ACVR1	RNASEH2A	KIAA0753	ADA2	FBLN1	ACP5	PORCN	LRP4	SERPINH1	ORC1	RINT1	KRT9	RIPK4	DONSON	CTCF	RAF1	PCDH19	CNTNAP1	SDHA	PSAP	PRKAR1A	TBX22	GCH1	PRKCZ	EXT1	TBX3	ZMPSTE24	CTDP1	UGP2	MYH8	RAG2	GLRB	NOTCH3	FANCB	VDR	UBAC2	BPNT2	DKK1	VANGL1	SLC12A3	PDGFRB	SLC37A4	HIRA	CFI	PALB2	ALPL	INPPL1	CHAT	ALAD	CBL	ATP6V1E1	ARFGEF2	FANCG	FGF10	GAN	SLC39A13	PDPN	CD244	CCR1	F7	LEMD3	SOS2	SEC24C	ITCH	ARF1	CDC45	ZNF687	SLC12A2	APC2	ALG3	MBTPS1	TMEM43	EPB42	DDB2	KIAA0586	MAP2K1	FCGR2B	TBX6	SDHB	KMT2A	IL2RB	TRIP11	MTHFD1	SLX4	MORC2	PSMB9	RPL10	OTULIN	PIGY	DVL3	SMO	MAN2B1	INPP5K	RRAS2	UBE2A	CUL4B	CRTAP	PRKG2	SEC61A1	FLT4	HERC2	DLK1	HEPHL1	KIAA0319L	HACE1	GEMIN4	SLC35A2	IL36RN	KIF7	MFN2	GRIA3	PEX1	RREB1	ATP6AP2	GJB6	RBM8A	PLAU	SPART	FASLG	SMAD4	TGFB3	COMT	EXOC6B	TP63	HOXD10	DPM1	ACTB	NCF1	DYSF	ALG2	COPA	YY1	TOR1A	AMER1	MMP2	GNPTG	TPRKB	EXT2	DDR2	SLC29A3	GTF2E2	CHD7	CLCNKB	FANCL	HOXA11	PHGDH	CHD4	SPTLC2	KDM5C	ITGA7	EED	MEOX1	LMOD3	SLC10A7	ARL6IP1	BCL7B	SMG9	NFKBIL1	AP4S1	TBC1D7	IL6	NEPRO	GPKOW	MED25	IFITM5	AP4E1	MAP3K20	CYP3A4	SBDS	OBSL1	NXN	POMT1	LMNB2	IFT52	CIITA	ABCG8	UBA1	DVL1	SNRPB	AKT1	ALG9	SVIL	SCARB2	EFEMP2	FBXL3	FGA	SMARCA2	DNASE1L3	RFC2	HJV	COL17A1	BICRA	SPRED2	GCDH	VCP	SLC5A7	MCOLN1	IGHG2	KRT16	IL12B	BMPER	BMP2	MADD	SLC34A3	MEN1	FKTN	WNT5A	CFL2	PMP22	HAMP	COG5	TMTC3	IL2RA	WNT4	FUZ	PEPD	PSMD12	WBP11	SDHD	SRD5A3	GP1BB	CENPJ	SNORD116-1	WASF1	YWHAE	PQBP1	C2orf69	SRY	TRIM8	IRF4	CAPN3	SMARCAD1	PFKM	EIF4A3	LIMK1	BLNK	KRT1	POP1	SIX6	OPA3	LARS2	ZNF469	MCFD2	KAT6A	VPS33A	ZNF699	POLR1A	POMT2	CD247	NANS	LFNG	MYD88	TOR1AIP1	MIA3	P4HA2	ZNF407	ANO5	SLC34A2	STXBP1	GNB2	TBL2	TNFRSF11B	NSDHL	PWAR1	UFSP2	RASA2	FANCM	CHUK	MECOM	THOC2	FOXP3	TMEM270	RASGRP1	ZSWIM6	B3GAT3	PIK3C2A	TP53RK	AARS1	ERMARD	FXYD2	MMP1	RNF113A	HS2ST1	CASZ1	TOM1	P4HTM	COX8A	SIX1	SLC22A4	GFM2	PPP2R3C	SLC39A8	SLC35D1	BANF1	IKBKG	PWRN1	TBR1	IPO8	ZC4H2	POLR3A	STX1B	DPYSL5	CYP19A1	SH3PXD2B	F11	EIF5A	LAMA3	PEX2	SLC52A3	DHX16
HP_ARTHRITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTHRITIS	CANT1	FASLG	IL12A-AS1	TGFB3	PRPS1	COMT	FCGR2A	IL12A	UMOD	EPCAM	COL2A1	COMP	HOXD10	IRF4	HLA-B	NLRP3	AGA	AIP	PRKCD	PFKM	G6PC1	ASAH1	CD79A	HPRT1	LBR	COPA	SLC40A1	IRF5	BLNK	HGD	TCF3	CLCN7	POFUT1	COL11A2	MMP13	TBX1	IGKC	GCH1	PSTPIP1	EXT1	PTPN22	ERAP1	SPP1	ZMPSTE24	EXT2	RAG2	IL10	KNSTRN	CASP10	CCN2	ARVCF	LRP6	ANKH	WAS	IRAK1	FGFR3	UFD1	CLCNKB	MYH14	F9	LMNA	NTRK1	MLX	PSENEN	COL5A2	RNASEH2C	STAT4	SMAD3	POGLUT1	UBAC2	GHR	IFIH1	COL9A3	COL9A2	ACAN	SH3KBP1	HPGD	RNASEH2B	MVK	SLC12A3	SLC37A4	LRRC8A	MEFV	IGHM	HIRA	CFI	TRAPPC2	AEBP1	DNAJB11	CD247	NFKBIL1	FGF10	OCRL	MYD88	PTPN2	PSMB4	TREX1	IL6	MIF	MATN3	P4HA2	GJB2	CD244	CCR1	HNF1B	CAV1	ASPN	SPTA1	ATP7B	SEC24C	SLCO2A1	TF	IGLL1	COL9A1	TNFRSF11B	MUC1	CIITA	GDF5	ABCG8	UBA1	ZNF687	APOE	LRBA	PRG4	CD79B	SAMHD1	LACC1	SCARB2	COL5A1	CTLA4	IDS	PIK3R1	PIK3CD	UFSP2	DDRGK1	EPB42	ADAR	FOXP3	TLR4	GBA	FCGR2B	DNASE1L3	CCR6	RASGRP1	ACP5	TRPV4	IL2RB	SLC4A1	MTHFD1	TNFRSF1A	HJV	COL1A1	PSMB9	SLC26A2	COL3A1	PHEX	IGHG2	WIPF1	RNF168	TOM1	HLA-C	IL12B	SPTB	NOD2	GPR101	SYK	TFR2	JMJD1C	RAG1	SEC61A1	VPS13A	HLA-DRB1	COL11A1	FAS	MIR140	FRZB	IFNGR1	DCLRE1C	NLRP12	SLC22A4	GNAS	FGFR2	BTK	C4A	TRPS1	DNASE1	CCN6	ANKRD55	IL2RA	IL36RN	KIF22	MMP2	KLRC4	HFE	LMX1B	LEMD3	ANK1	MMP14	IL23R	RREB1	GLA	GP1BB	KRT5	RNASEH2A	ADA2	GJB6	C2orf69	F8	FBN1
HP_RHEUMATOID_ARTHRITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RHEUMATOID_ARTHRITIS	IGKC	IL6	STAT4	MIF	LACC1	IL2RA	GCH1	PTPN22	IGHG2	NFKBIL1	HLA-DRB1	ANKRD55	CD244	CIITA	ACP5	PTPN2	DCLRE1C	IL2RB	CD247	SLC22A4	IL10
HP_JOINT_DISLOCATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_DISLOCATION	ELN	COMT	EXOC6B	COLEC10	PRKACB	MYO9A	AGRN	CDC6	ALDH18A1	RAD51	XYLT1	EXOSC3	HK1	KANSL1	COL1A2	COL6A1	SHH	RBM8A	IL6ST	GTF2I	KLHL41	FANCC	NCF1	HSPG2	EBP	COL6A2	TGIF1	ROR2	FBN2	EIF4H	TOR1A	ERCC3	FANCF	ERCC4	TTC26	MPLKIP	FANCD2	SLC25A1	FBLN5	CANT1	FZD2	ZMPSTE24	CDON	CHRNG	FOXH1	TBCD	FGF8	FGFR1	GTF2E2	ANKH	BICD2	COLEC11	FANCL	LMNA	LTBP1	ARNT2	COL5A2	SLC6A9	LARGE1	SLC26A2	TDGF1	HOXA11	SMC3	CHST3	ITGA7	RYR1	B4GALT7	FUT8	NLRP3	AEBP1	LMOD3	ATP6V1A	MAD2L2	SLC10A7	FANCA	STIL	BCL7B	SKI	CLCN3	WNT7A	SIX3	KDM6A	COL6A3	SMOC1	ECEL1	MYH7	NIPBL	CD96	FLNA	PTCH1	HACE1	GJA1	ZIC2	TARS1	TONSL	TELO2	IFITM5	PITX1	MAP3K20	ARID1B	OBSL1	NXN	DISP1	FBLN1	POMT1	METTL27	RNU4ATAC	COL2A1	DHCR7	NSD2	CREBBP	ACTA1	PTRH2	FANCB	DVL1	SNRPB	AKT1	ALG9	FANCI	SMC1A	FIG4	ERGIC1	PKDCC	GPC3	SLC35A3	COL5A1	PLOD1	EFEMP2	NEDD4L	ASXL1	FBXL3	COL1A1	LONP1	RAD21	CHRM3	EXTL3	GLI3	TMEM251	SMARCA2	USP9X	TBX1	SIL1	GMNN	DHODH	DNASE1L3	RFC2	IARS2	NGLY1	BMP1	UBE3B	MYH8	KIF22	ATAD1	TPM2	FKBP6	GCDH	BRD4	SLC5A7	PIGL	MACROH2A1	ATR	SELENON	CSGALNACT1	GAS1	TGDS	COL13A1	BUD23	MKKS	RAD51C	FANCE	DNAJC30	SLC2A10	FLNB	GLRA1	CHRND	DLL1	FLI1	NODAL	CLTCL1	SOX9	VPS37D	THRA	WNT5A	CFL2	KAT6B	EP300	LMX1B	HACD1	ADAMTS2	MASP1	NOG	OSGEP	CCDC8	TGFBR1	TMTC3	DSTYK	TFE3	EIF2AK3	SLC40A1	GPHN	PYCR1	ERCC1	IFIH1	ATP6V0A2	CHRNA1	BRCA2	XRCC2	CDT1	TRPS1	GP1BB	RECQL4	YWHAE	BRCA1	LRP4	PYCR2	OCRL	GNPTAB	ORC1	FKRP	MLXIPL	HDAC8	ORC4	TRIM8	DONSON	MCTP2	SLC6A5	APC	EIF4A3	CTBP1	STAG2	MBTPS2	LIMK1	GDF5	COL12A1	PRKAR1A	VAC14	PUF60	KMT2D	ZNF469	GLRB	ARVCF	TGFBR2	TPM3	SHOX	PPP2R5D	GLI2	SNAP25	NOTCH2	UFD1	GORAB	BPNT2	SYT2	HIRA	PALB2	POMT2	CHAT	FHL1	TBX15	FBN1	B3GALT6	ARFGEF2	FANCG	DSE	EYA1	GPC6	SLC39A13	CUL7	EXT1	CLCN7	MAP3K7	GTF2H5	STXBP1	GSC	MYL2	GNB2	PORCN	SEC24C	COL27A1	TBL2	ERCC2	TNFRSF11B	NEB	PAFAH1B1	ARF1	NSDHL	CDC45	SLC12A2	MYH3	FANCM	AFF3	CPLX1	FGFRL1	CCDC47	TMEM270	BRIP1	VAMP1	VDR	GMPPB	SSR4	B3GAT3	OFD1	SLX4	STX1A	DNAJC21	SCARF2	DVL3	AARS1	ERMARD	SRCAP	BAZ1B	COL3A1	RNF113A	HGD	SMO	SLC18A3	CHST14	CHST11	TCTN3	INPP5K	ADAMTSL2	UBE2A	TNNT3	SHROOM4	JMJD1C	COX8A	GTF2IRD2	SIX1	UBE2T	LETM1	ATP6V1E1	TBX4	ATP7A	GEMIN4	C12orf57	PTEN	SEC31A	IPO8	GPC4	ZC4H2	SF3B4	RFWD3	DPYSL5	MAP1B	RREB1	CLIP2	PIEZO2	GTF2IRD1	NFIX	BGN	ORC6
HP_CONGENITAL_HIP_DISLOCATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_HIP_DISLOCATION	GPC3	SELENON	PLOD1	ITGA7	SYT2	TPM2	MYO9A	AGRN	RYR1	CUL7	LONP1	SIX1	CHRM3	CLTCL1	COL1A1	CHAT	FHL1	TBX15	THRA	KAT6B	ATP6V1A	IARS2	FIG4	ATP6V1E1	DHODH	VAMP1	CLCN3	HACD1	RECQL4	NGLY1	GEMIN4	CCDC8	PPP2R5D	KDM6A	ATP6V0A2	ALDH18A1	EYA1	COL5A2	MYH7	GPC4	TPM3	OFD1	UBE3B	PUF60	KIF22	KMT2D	SLC25A1	FLNA	MAP3K7	SLC5A7	DNAJC21	PYCR1	TELO2	MYL2	ACTA1	ZNF469	MAP3K20	COL3A1	OBSL1	TBCD	COL12A1	HSPG2	FBLN1	PORCN	SLC18A3	SNAP25	BICD2	PIEZO2	USP9X	COL13A1	MKKS	PAFAH1B1	NSDHL	PTRH2	SNRPB	YWHAE	WNT7A	SHROOM4
HP_LIMITATION_OF_JOINT_MOBILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITATION_OF_JOINT_MOBILITY	NDE1	SMAD4	UNC80	COLEC10	SFRP4	SALL4	COL1A2	TRPV3	MMP9	CKAP2L	AGA	FBN1	FGFR3	GTF2I	ACTB	EZH2	NCF1	HSPG2	DYSF	SPRTN	ZNHIT3	PIEZO2	GABRA1	FBN2	EIF4H	TOR1A	SELENON	TGFB1	WFS1	ALG1	MMP13	SYT2	EMD	ERCC2	COL2A1	MMP2	LIFR	GTPBP2	BMPR1B	SCN9A	GNPTG	PTPN22	FZD2	COL11A2	MYLPF	IRF6	ZMPSTE24	EXT2	RSPRY1	UBE3A	DDR2	LAMA2	SLC29A3	COLQ	SYNE2	ANKH	ESCO2	LMNA	COL6A2	COLEC11	SLC6A9	COL6A3	SLC26A2	PSTPIP1	F8	HOXA11	SMC3	TBX4	COL9A3	CHST3	ERLIN2	ADGRV1	ITGA7	HPGD	PTPN11	MVK	EED	NALCN	NAGLU	TTN	RECQL4	ERCC1	FKBP10	FLNC	ABCA12	RMRP	SLC10A7	MTX2	L1CAM	BCL7B	GABRG2	SCN1A	MYH3	NFKBIL1	KY	LMBR1	SCN2A	LGI4	SMC1A	TONSL	WNT7A	ASPA	HRAS	NIPA1	SGSH	IDH1	LEMD3	ECEL1	NIPBL	ALOX12B	GPKOW	FLNA	POR	CCN6	FGFR2	TELO2	PRDM16	IFITM5	PITX1	ASPN	MAP3K20	RAB18	PLOD2	GABRD	GNE	METTL27	SLCO2A1	RNU4ATAC	ACTA1	CIITA	GLE1	PPP1R12A	FGFR1	SNRPB	TNNT1	AKT1	SVIL	PRG4	ALDH18A1	ATP7A	EPG5	ERGIC1	PKDCC	ALOXE3	COL12A1	PLOD1	IDS	TPM2	ADAT3	ASXL1	COL1A1	NOG	KAT6B	RAD21	RERE	PLA2G6	CISD2	SPEG	ELN	ERF	RAB3GAP1	RYR1	RFC2	LTBP3	PTPN2	SIK3	SGCA	ATAD1	GJB2	OCA2	FKBP6	BRD4	MECP2	CNTNAP1	MYH7	ADGRG6	MACROH2A1	ATR	MFN2	TNNT3	CSGALNACT1	RAI1	PAX3	KCNK9	TGDS	ERCC6	LTBP2	EMG1	PHEX	HCN1	BUD23	COL6A1	ZBTB20	DNAJC30	GBE1	GLRA1	ADCY6	IDUA	CD96	CLCF1	FLII	PRRT2	PLOD3	PTH1R	VPS37D	TRPV4	DST	ATRX	DEAF1	GUSB	CRLF1	GNAS	KIF1A	FDFT1	LMX1B	PTDSS1	HACD1	ADAMTS2	MASP1	CBS	ADAMTS10	ANKRD55	FN1	IL2RA	TFE3	SMARCB1	PTF1A	FUZ	SYNE1	ALDH3A2	CHRNG	SLC40A1	ANTXR2	ARSB	TMEM222	SKI	HLA-B	IL2RB	ACVR1	SRD5A3	GDF5	IDH2	GNPTAB	FGF9	MLXIPL	HDAC8	STING1	COMP	CAPN3	FLNB	INPPL1	SLC6A5	PCDH19	LARGE1	LIMK1	NPR2	MATN3	HGD	ACTG1	VPS33A	TGM1	TFAP2A	PSMB8	BICD2	BGN	SHH	PRKCZ	EXT1	MBTPS2	MYH8	APC	OPA3	UBE4B	IL10	EXOC6B	WRN	GLRB	TNNI2	SHOX	NOTCH3	TPM3	SCUBE3	SUZ12	ACTG2	NSD1	DKK1	VANGL1	PDGFRB	LAMB2	TREM2	TRAPPC2	KCNAB2	ERCC8	SETD2	FHL1	TBX15	TBC1D20	OCRL	CD247	GPHN	MYOT	MMP23B	GDAP1	SLC25A46	HERC1	SETBP1	P4HA2	PDPN	ANO5	PNKD	MAP3K7	CD244	HGSNAT	STXBP1	GSC	TNFRSF11B	MYL2	GNB2	PNPT1	MUSK	B3GALT6	TBL2	ITCH	MAPK1	KRT1	DYM	MAF	APC2	ENPP1	TMEM43	GNS	SPEN	PI4KA	STAG1	TMEM270	NEK9	ZC4H2	RAB3GAP2	SCN4A	VCP	GPC6	ASAH1	SUMF1	B3GAT3	PIK3C2A	CPT2	BIN1	STX1A	SCARF2	PCYT1A	PIGY	BAZ1B	GNAI3	TYROBP	MAN2B1	KRT83	HS2ST1	CASZ1	ADAMTSL2	USP9X	ERCC5	GLB1	MECOM	MYBPC1	PLP1	P4HTM	BHLHA9	MAFB	GARS1	SCN1B	GTF2IRD2	HLA-DRB1	SLC25A19	NOD2	SLC22A4	DMD	PPP2R3C	SLC39A8	LUZP1	BANF1	KIF22	PTEN	HFE	STX1B	JAG2	SF3B4	MED12	PLCB4	CTNNB1	TBX5	DPYSL5	STAT4	ADAMTSL4	B3GLCT	PYCR1	UBA1	SH3PXD2B	IQSEC2	PCNT	CLIP2	EXTL3	GTF2IRD1	HNRNPDL	PERP
HP_LIMITED_ELBOW_EXTENSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_ELBOW_EXTENSION	CLCF1	COMP	SFRP4	ESCO2	COL2A1	CRLF1	RMRP	FLNB	STAG1	PPP2R3C	LMX1B	NPR2	TONSL	FBN2	MATN3	TFE3	GPC6	FGFR3	MMP13	NIPBL	EZH2	BGN	FLNA	POR	FZD2	SF3B4	HDAC8	MED12	OPA3	TBX5	RSPRY1	CSGALNACT1	EXOC6B	KCNK9	B3GALT6	PCNT	FGFR2	ITCH	MAPK1	RNU4ATAC	DYM	ATP7A	FBN1	COL9A3
HP_JOINT_HYPERMOBILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_HYPERMOBILITY	TGFB3	NTNG2	COMT	ZMIZ1	PYROXD1	CDC6	TRMT1	DLK1	XYLT1	BRAF	RRAS	KANSL1	COL1A2	COL6A1	MAMLD1	RIT1	GTF2I	EZH2	NCF1	COL6A2	DOCK3	KDM1A	RYR1	YY1	ALDH18A1	MED27	EIF4H	HDAC4	TTC26	SET	GTPBP2	CANT1	MAN1B1	LOX	WDR19	SRCAP	FBLN5	RSPRY1	NSDHL	PTEN	ACTL6B	GORAB	NFIX	EMC10	TOGARAM1	CRKL	COLEC11	DPYSL5	ATP7A	CHST3	PTPN23	TRIP12	ABCC6	EED	MEG3	STAT3	EFNB1	SIN3B	MAPK8IP3	MRAS	EFEMP2	RMRP	KCNMA1	SHANK3	PPP2R1A	STAT4	BCL7B	SKI	TNXB	COL5A1	FGFR3	HRAS	KDM6A	CHAMP1	FBXW11	WDFY3	COL6A3	KCNN3	BPTF	SMOC1	MED12	TCF20	NEPRO	HNF1B	RTL1	IFITM5	WDR35	SEMA5A	FLNA	OBSL1	BCORL1	RLIM	ATP7B	ZDHHC9	METTL27	LMNB2	CREBBP	GDF5	RPS6KA3	TMCO1	CCDC32	CDK13	MYT1L	PIGP	COL3A1	PKDCC	ANKRD17	CENPJ	COL12A1	PLOD1	FGD1	NEDD4L	COL1A1	PLAA	ELN	VPS13B	ENPP1	TENT5A	TBX1	GMNN	SLC12A2	KCNH1	RFC2	KRAS	DHX30	NGLY1	UBR7	KMT2E	LIG4	BMP1	PRR12	FKBP6	TNRC6B	SPRED2	TAB2	GRIA4	COL9A2	LMNA	HPDL	COL2A1	XYLT2	CSGALNACT1	FARSA	C1S	TGDS	SON	BUD23	PTPN22	ZNF469	DNAJC30	SLC2A10	ATP6AP1	NFASC	ABCC9	TCF7L2	PCNT	PHIP	PUS7	TLK2	DNMT3A	SYNCRIP	LRP5	VPS37D	LOXL3	RNF13	PPP1CB	SATB2	AGO2	PTDSS1	ADAMTS2	PIK3R1	PHF6	CCDC8	TGFBR1	CFL2	TMTC3	RNF2	SLC26A2	PIGU	B4GALT7	NTNG1	IL2RA	EP300	LMX1B	SPTBN1	KDM3B	ANKRD55	PYCR1	SATB1	CNOT3	COL11A1	YARS1	FLNB	TAF1	PRDM5	KAT8	CDT1	SETD1A	TRPS1	OTUD6B	GP1BB	ATP6V1B2	WASF1	TRIP11	RIN2	AEBP1	AMMECR1	PYCR2	FBN1	OCRL	PTPN11	NOTCH3	KDM6B	ORC1	MLXIPL	GDF11	ORC4	ATR	COMP	IFT122	KDM4B	RAF1	PSMD12	ZNF341	MED13	C12orf57	CEP152	LIMK1	NPR2	SLC39A8	CLCN3	COL5A2	ANTXR1	GNE	MTM1	WNT1	KAT6B	KMT2D	ARVCF	TGFBR2	SCUBE3	FKBP14	SUZ12	NOTCH2	UFD1	PGM3	CENPE	RAB3GAP1	TANC2	PIGT	USP9X	DDX6	HIRA	BCAS3	MADD	CD247	CBL	PALS1	TET3	ARFGEF2	SLC6A8	SMS	PTPN2	SOS1	ACTL6A	GAN	VPS37A	CUL7	EXT1	NSUN2	GNB2	MAPK1	NRAS	SOS2	UPF3B	SEC24C	TBL2	PIGG	PAX2	ARF1	IL1RAPL1	CDC45	RBBP8	COL9A3	HS2ST1	IFT43	RASA2	B3GALT6	DPYD	NUP85	PIK3CA	TMEM270	PTHLH	MEFV	LONP1	KMT2A	IL2RB	HTT	ASAH1	ATRIP	B3GAT3	STX1A	DNAJC21	SIN3A	ERMARD	BCL11A	COL18A1	BAZ1B	PUF60	ADAMTSL2	KDELR2	RRAS2	PLK4	SEC24D	VAMP1	LMBRD2	P4HB	CUL4B	NLRP1	SLC9A6	LZTR1	ATP6V0A2	P4HTM	JMJD1C	HOXD13	BCR	GTF2IRD2	SEC23A	SVBP	TNFRSF1A	NF1	COL9A1	SPART	TAOK1	UBE3A	HEPHL1	PTCH1	IFT52	SLC35A2	ATN1	TGFB2	IPO8	POLR3A	ZMYM2	TRAIP	CTNND2	CSNK2A1	NSD1	HUWE1	CREB3L1	MAP1B	EIF5A	RREB1	CLIP2	TRAPPC4	GTF2IRD1	BGN	ORC6	C1R	JARID2
HP_HIP_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIP_DYSPLASIA	RERE	TTN	NTNG2	ZMIZ1	HDAC8	TRMT1	ATR	NDN	COL1A2	PIEZO2	KDM4B	SNRPN	HSPG2	PSMD12	MMP13	CTBP1	MED13	DOCK3	CEP152	RAB11B	MED27	KCNK4	CLCN3	PIGW	UNC45A	BICD2	PUF60	ATAD3A	PRKCZ	UMPS	WDR19	KANSL1	UBE4B	EXOC6B	RNF13	PIGL	ACTL6B	TNRC6B	CREBBP	COL2A1	EMC10	SHPK	DPYSL5	DDB1	CENPE	TANC2	SMC3	TBX4	GLE1	PTPN23	TRIP12	SMC1A	FZD2	DDX6	GMNN	BCAS3	KCNAB2	MADD	MAPK8IP3	VIPAS39	KCNMA1	PALS1	PPP2R1A	PIGV	ATP6V1E1	TET3	FBXW11	WDFY3	ACTL6A	MKRN3	BPTF	MMP23B	NIN	TRAPPC11	WDR26	TCF20	EXT1	FARS2	PDPN	MAGEL2	OCA2	PRDM16	BCORL1	RLIM	B3GALT6	NPAP1	NSD2	GDF5	PWAR1	CCDC32	DVL1	RBBP8	MYT1L	HS2ST1	ANKRD17	SLC35A3	CENPJ	IDS	COL10A1	SRCAP	VPS33B	COL1A1	CPLX1	FGFRL1	SPEN	RAD21	UFSP2	MECOM	SATB1	NIPBL	NUP85	CCDC47	USP9X	USP7	SIL1	SLC12A2	MRPS25	NGLY1	HNRNPK	HTT	UBR7	KMT2E	ATRIP	PGAP3	CNOT3	COMP	ZBTB20	SIM1	BRD4	IRX5	GRIA4	PIGY	DVL3	HPDL	SLC26A2	PGAP2	CASZ1	INPP5K	HOXA11	ADAMTSL2	PLK4	ZNF469	LMBRD2	SLC2A10	PCNT	TCF7L2	PUS7	SELENON	SVBP	SYNCRIP	CCDC8	PIGO	HERC2	WNT5A	EP300	LETM1	AGO2	PPP2R3C	LUZP1	COG6	ATP7A	ADAMTS2	LMNA	PWRN1	SMARCA2	ATN1	RNF2	WASF1	SH3TC2	TFE3	SNORD115-1	IPO8	MATN3	NTNG1	POLR3A	TRAIP	ARSB	ANKRD11	TRPV4	SPTBN1	KDM3B	GABRD	SKI	THOC2	HUWE1	TAF1	PRDM5	MYH7	KAT8	SETD1A	TRPS1	SH3PXD2B	SNORD116-1	TRAPPC4	NFIX	GLI3	JARID2	MBD5
HP_JOINT_SWELLING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_SWELLING	LACC1	HLA-B	PTPN22	HLA-DRB1	TRAPPC2	TNFRSF1A	ATP7B	NOD2	HPGD	FGA	SLC22A4	AIP	DDR2	ASAH1	NFKBIL1	MEFV	OCRL	BTNL2	ACP5	CCN6	CD247	ANKRD55	CHEK2	IL2RA	FGG	RB1	F8	IL1RN	COL5A1	PTPN2	IL6	MIF	SLC40A1	COL1A1	HFE	CD244	OTULIN	LPIN2	GNB2	STAT4	IL10	TP53	IL2RB	HGD	SLCO2A1	ANKH	FGB	TNFRSF11B	CIITA	COL5A2	GPR101	SYK
HP_JOINT_STIFFNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_STIFFNESS	FGF9	COL2A1	NDE1	SMAD4	MLXIPL	HDAC8	STING1	COMP	COL1A2	FKBP10	MMP9	AGA	LMNA	FBN1	HLA-B	INPPL1	FGFR3	GTF2I	MYH3	SLC6A5	ACTB	EZH2	NCF1	HSPG2	PIEZO2	LIMK1	NPR2	EIF4H	ACTG1	VPS33A	WFS1	ERCC2	GTPBP2	PRKCZ	BMPR1B	GNPTG	PTPN22	FBN2	IRF6	ZMPSTE24	SALL4	NALCN	UBE4B	IL10	WRN	GLRB	TNNI2	IDUA	SCUBE3	SYNE2	SUZ12	CBS	ACTG2	LTBP2	EMD	SMC3	DKK1	MMP13	VANGL1	EED	NAGLU	ERCC1	KCNAB2	L1CAM	GDF5	BCL7B	TBC1D20	NFKBIL1	FHL1	OCRL	ASPA	CD247	SGSH	IDH1	GPHN	MMP23B	LEMD3	GUSB	SHOX	SETBP1	P4HA2	PDPN	PNKD	CD244	HGSNAT	ERCC6	PRDM16	PITX1	FLNA	ASPN	RAB18	ANTXR2	METTL27	TBL2	CIITA	PPP1R12A	AKT1	SMC1A	PRG4	EPG5	TPM2	COL1A1	NOG	TMEM43	GNS	SPEN	RAD21	RERE	PLA2G6	CISD2	ADAMTS10	HPGD	NIPBL	ELN	RAB3GAP1	TMEM270	RFC2	NEK9	RAB3GAP2	SUMF1	LTBP3	PTPN2	ATAD1	FKBP6	BRD4	STX1A	MECP2	PCYT1A	MACROH2A1	SLC26A2	MFN2	TNNT3	TRPV4	BAZ1B	RAI1	PAX3	TGDS	HGD	MAN2B1	EMG1	KRT83	CASZ1	ADAMTSL2	BUD23	ERCC5	GLB1	MYBPC1	DNAJC30	GLRA1	GTF2IRD2	HLA-DRB1	FLII	TRAPPC2	MTX2	PRRT2	PTH1R	VPS37D	ATRX	DEAF1	SLC22A4	RNU4ATAC	LUZP1	BANF1	ADAMTS2	CCN6	ANKRD55	IL2RA	PTEN	PTF1A	FUZ	SYNE1	MATN3	ALDH3A2	ARSB	HFE	SKI	NSD1	SF3B4	GABRD	PLOD2	TBX5	STAT4	ADAMTSL4	SH3PXD2B	IL2RB	IQSEC2	CLIP2	GTF2IRD1	RECQL4	IDH2
HP_JOINT_LAXITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_LAXITY	CANT1	ELN	MLXIPL	EXOC6B	MYO9A	AGRN	RAI1	ALDH18A1	PYROXD1	DDRGK1	EED	FLNB	PLOD1	COMP	ARID2	SRCAP	TRIM8	TBR1	FGF17	KANSL1	COL6A1	AP4B1	MCTP2	OTX2	GTF2I	NCF1	COL6A2	ALG2	XYLT1	CTSK	LIMK1	SPRY4	EIF4H	AHDC1	COL5A2	COL12A1	SATB2	FMR1	PUF60	FGD1	SLC25A1	SERPINF1	MSTO1	FBLN5	MAN1B1	DDX3X	YY1	SLC2A10	DLG4	ZNF469	SMARCA4	LRP5	CHD7	SOBP	WDR11	SNAP25	CREBBP	FGFR1	CUL4B	STRADA	LTBP1	SLC6A9	SMAD3	EN1	DDB1	NSD1	RMRP	DUSP6	C12orf4	RYR1	ADNP	ORC1	GNRHR	NONO	SYT2	SOX4	TBL1XR1	B4GALT7	SMARCB1	MKS1	SETD2	PPP1R15B	SMARCC2	SHOC2	WDR35	CHAT	GFPT1	ATP6V1A	CBL	BCL7B	NANS	ATP6V1E1	SKI	B3GALT6	NPR2	AP4S1	RAC1	ARID1A	TGFBR1	PIGS	SPTBN1	TUBB3	DSE	COL6A3	ACAN	NPR3	CDC45	SLC39A13	PIK3CA	HERC1	SOX11	NSMF	MED12	AGA	PDE4D	SMARCE1	TMEM165	TONSL	TELO2	ARID1B	POGZ	AP4E1	GNB2	FLNA	IFT43	GLB1	SYT1	UBR1	PROKR2	COL1A2	GATA1	PORCN	METTL27	COL2A1	TBL2	MAPK1	TGFBR2	PIGG	TRIP4	FAT4	LTBP4	ATP7A	PIGP	ALG14	APC2	EFEMP2	DCHS1	TACR3	FBXL3	LONP1	RTL1	MRE11	COL13A1	GALNS	THOC2	KDM6A	STAG1	CCDC47	USP9X	TMEM270	TENT5A	AP1G1	VAMP1	RAB3GAP2	RFC2	FKBP10	FARSB	P3H1	ATP6V0A2	DPF2	FGFR3	KIF22	COL1A1	BICRA	FKBP6	STX1A	SLC5A7	GMPPB	KCNJ2	SMARCD1	DCPS	PIK3R1	BAZ1B	CSGALNACT1	STAC3	EFNB1	FGF8	HNRNPK	SLC18A3	CHST14	MAN2B1	PLAGL1	MICU1	TGDS	ADAMTS2	NOTCH2	MAP3K7	HS6ST1	BUD23	ERMARD	GNRH1	PMM2	DPAGT1	DNAJC30	SIN3A	IFT122	PROK2	GTF2IRD2	MEG3	HNRNPH2	KISS1R	SEC23A	VPS37D	EP300	TRMT10A	DLK1	NKAP	KCNJ5	PAX2	SMARCA2	TGFB2	IPO8	COL5A1	KISS1	TAC3	IARS1	HYMAI	TCTN3	AP4M1	B3GLCT	GRIA3	C1R	CLIP2	GTF2IRD1	RET	SERPINH1	POLR3GL	GATAD2B
HP_ABNORMALITY_OF_THE_LIVER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_LIVER	EPB41	SLCO1B3	CTSA	REL	DDRGK1	FCGR2A	UQCRFS1	GATA6	RRAS	DPM2	GPC3	PRKCSH	FAH	SKIV2L	TCIRG1	YARS2	SPRTN	PTPN3	IFT140	TCF3	UNC45A	TGFB1	FANCF	ERCC4	LDLRAP1	FANCD2	TWNK	ATRX	BBS5	PYGL	CTC1	PHKB	CEP290	MARS1	DIS3L2	GBA	DEF6	RIPK1	NHP2	POLG	PRF1	ACADVL	TOGARAM1	ADK	PEX5	PSTPIP1	BBS7	CIITA	HBA2	MVK	LRRC8A	IL12RB1	IGHM	SMARCB1	NLRP3	NDUFS8	CALR	CYP7A1	MAD2L2	SDHD	FANCA	JAK1	SGSH	LYST	TRAPPC11	RTEL1	IL1RN	CD96	RMND1	LRP5	PEX12	EPCAM	RNASEH2C	POLG2	PSAP	PCSK9	ARID1B	ABCG8	RHAG	PTRH2	NCF4	HBB	APOE	POU2AF1	FADD	DCDC2	ZPR1	PKHD1	SLC44A1	ALMS1	LACC1	AIRE	PEX11B	INSR	REST	NDUFAF4	GNAS	H19	TBX1	PRKAR1A	ALAS2	KCNH1	RABL3	KRAS	LIG4	ARSA	CORIN	SPTB	PEX26	SLC25A13	CLPB	PIGM	MS4A1	PCCB	SMARCD1	GLIS3	SLCO1B1	TSC2	PEX16	ERCC6	RRM2B	MICU1	PEX6	WDR19	BUD23	TERC	ABCB11	TRIP13	NPHP3	LMNA	PMM2	FANCE	ALG6	DNAJC30	ATP6AP1	SH2D1A	RNU4ATAC	STX11	NLRP1	VPS13A	SNX10	BRCA2	SAA1	ZFTA	GUSB	RHD	ARL13B	SDCCAG8	TMEM107	CBS	MMAB	DNAJC21	ERCC8	TET2	DNAJB11	MT-ND6	UROD	TNFRSF13B	MKS1	PEX13	IL2RG	B2M	ATP6AP2	YARS1	SMPD1	SEC63	IFT172	GSTM3	CDKN1B	ETFA	WDR35	TMEM67	IARS1	ATP6V1B2	BRCA1	CEL	AKT2	IL18BP	IQCB1	APC	EFL1	HPD	SUPT16H	LBR	ABCC2	KCNJ11	TSHB	G6PC1	ASAH1	APOC2	CEP164	FOXRED1	CTBP1	SERPINA1	CLEC7A	SLC40A1	TCTN2	NSMCE2	GLB1	CC2D2A	LIG3	PTPRC	SLC16A2	ALDOB	PCK1	PSMG2	TMEM237	SLC25A20	STEAP3	FGFR2	MLH1	CYP27A1	NCF2	UROS	UGT1A1	CD247	NDUFAF2	TNFSF12	UFD1	DPAGT1	CTSC	MPL	HMGCL	CD27	TMEM70	ARG1	LHX4	TJP2	KCNAB2	NPM1	SMAD4	AGPAT2	COG1	ANKS6	PDGFRA	CLCN7	LIPA	STAT3	TBX19	EDNRA	PEX19	SEMA4A	HNF1A	SOS1	PSMB4	SRP54	SETBP1	KLF1	FECH	HGSNAT	PMS2	DUOXA2	ATP11C	UBR1	PEX3	ADA	NRAS	CDAN1	NAB2	LMNB2	BCS1L	TRAF3IP2	CD79B	PIGA	RTL1	RUNX1	PEX1	CPOX	HSPG2	CPLX1	ITK	RNF43	NDUFS3	ABCB4	ACAD9	RFXAP	DCLRE1C	AP1S1	NFKB2	NDUFB11	MPI	PC	LZTFL1	ALG8	DGUOK	ALG13	MPC1	BAZ1B	MEG3	RFT1	TCTN3	NEU1	RAC2	TRAF3IP1	BBS10	TXNDC15	RMRP	NCF1	MT-TV	MT-ATP6	SYK	DYNC2LI1	PPARG	ATP7B	NOP10	DUOX2	TRHR	UBE2T	HESX1	MMUT	BBIP1	CFTR	RPGRIP1L	NDUFA11	TNFRSF1A	WDPCP	TNFSF15	TTC8	STXBP2	SOCS1	SLC25A15	NDUFV2	NDUFA6	RFWD3	IL7R	GNMT	EARS2	CCDC115	PDGFRL	B3GLCT	GPIHBP1	CA2	FUCA1	ENG	WT1	SLC7A7	CLIP2	MPV17	COX4I2	GTF2IRD1	RAB27A	BTK	COG7	ADAMTSL2	HSD17B10	PKLR	TMEM216	SDHA	MT-ND3	G6PD	NDUFV1	GTF2I	SUCLG1	TCF4	ACAT1	IGKC	GPC4	INTU	COX5A	RAG1	IFT27	ALG1	LETM1	PTPN22	GALK1	MSH6	LPIN2	KRIT1	ALG9	CD28	DNAJC19	SMARCA4	CASP10	NDUFAF1	GALT	PCK2	NDUFS1	FDX2	TSFM	CAVIN1	TRIM28	NAGLU	RECQL4	ARHGAP31	GDF2	DLD	RPS20	TRPV6	MRAS	LDLR	HPGD	TTC7A	IYD	NPHP4	NPHP1	SLC25A4	BTD	HNF1B	STAT1	SLC2A1	PRDM16	NAGA	ATP8B1	SPTA1	POU1F1	HK1	C1S	HBG2	IGLL1	NSD2	JAK2	GATA2	HADH	HEXB	ASXL1	DHFR	ABCA1	RERE	SPINK1	EXTL3	MEFV	SEC23B	CYP7B1	XIAP	FBP1	SFTPC	TGFBR2	KCNN4	MICOS13	CLDN1	CD55	HAVCR2	PNPLA2	PTPN2	PKD2	KRT18	ELN	LYZ	CR2	SPIB	RFX5	NCKAP1L	FARSA	ETFB	ANK1	ABHD5	AP3B1	RAD51C	FOXP3	SCYL1	MRPS28	STAT6	BICC1	SPOP	SRSF2	COG6	BMPR1A	CFAP418	MAGT1	FAN1	SDHC	MTTP	ARSB	USP53	UNC13D	AMACR	HAMP	TERT	DAXX	DYNC2H1	NEK8	CIDEC	FGA	PPOX	GNPTAB	SAR1B	HFE	MLXIPL	MOGS	GPD1	NDUFB9	ARID2	HBA1	TKT	INPPL1	CD79A	ABCC6	MT-CYB	PRPS1	XYLT1	BTNL2	IGF2	PDGFB	VPS33A	HADHA	PIEZO1	PSMB8	NR1H4	PROP1	BBS9	CTNNB1	IER3IP1	HADHB	ALDOA	CYBB	TF	STN1	CD40LG	UBE4B	IL17RC	ARVCF	IDUA	KIF20A	VCP	HOXD13	NDUFAF8	NOTCH2	NHLRC2	IL17F	DCTN4	CASR	BBS1	MT-ND2	AP3D1	NEUROG3	TNNI3	RNASEH2B	SOX4	CD3E	DKC1	SMARCC2	BSCL2	FCGR3B	SURF1	PAX8	MMP23B	PHKG2	SLC9A3	KIF3B	MRPL44	AGA	RPGRIP1	RHBDF2	TYMP	ASS1	PEPD	ZIC3	ERBB3	FAM111B	SAMHD1	PIK3R1	FGFRL1	SPEN	HMBS	CLCA4	BBS12	SPECC1L	CCDC47	BRIP1	SEMA4D	PEX10	LONP1	DPF2	LMBRD1	SCO1	CPT2	STX1A	NDUFS4	GCK	CDKN2A	BAAT	USP9X	UQCRB	NGLY1	JMJD1C	GTF2IRD2	MTX2	ACTG2	GPI	PRKCD	IL21R	TRIM37	LUZP1	ALG2	DYNC2I2	CTNS	ZAP70	TREX1	GABRD	SKI	STAT4	IFT80	PPP1R21	CEP19	IDS	GCGR	TNFSF11	ATPAF2	CYBC1	ACOX1	KIT	TRMU	IFNGR1	CCDC28B	CDKN1C	RIT1	SUMF1	FANCC	PDE8B	TSHR	EIF4H	APOB	TTC26	AXIN1	MET	C1QBP	MYORG	FH	TPI1	B9D1	XRCC4	CD3D	IL12A	ESCO2	SHPK	NDUFAF3	TG	CNTNAP2	ATP7A	ACADS	SC5D	IFIH1	SLC20A2	RNU7-1	PNPLA6	HSD3B7	TSC1	ABCD3	MSH2	NEUROD1	TKFC	SPTBN1	SLC25A19	PHKA2	MMACHC	GALM	NDUFB10	DYNC2I1	MIF	PRKACA	TTC37	ARMC5	BLK	IFT43	PDX1	JAG1	HYOU1	FLI1	XK	GCLC	TIMMDC1	METTL27	SLCO2A1	DHCR7	TP53	NPC2	AKR1D1	PKD1	SP110	DHDDS	RELA	MT-ND1	GANAB	MYPN	MYC	COX14	TRIM32	GALNS	ADAR	VPS4A	GBE1	IL17RA	MAN2B1	GALE	FARSB	CD19	IGF2R	CTLA4	SLC4A1	COG8	NKX2-5	NDUFS7	FKBP6	SCNN1A	TPP2	FLT1	IL2RB	IRF5	DOCK6	MT-TK	OTUD5	MKKS	ICOS	B4GALT1	USP18	ITCH	NFS1	SLC6A14	TFR2	FASLG	PEX14	GFM1	HLA-DRB1	GNE	FAS	VPS37D	IFNG	INS	TFE3	EIF2AK3	DLL4	SLC29A3	APOA1	SCNN1B	HYMAI	ZNFX1	SLC11A2	XRCC2	COG4	SLC30A10	RNASEH2A	AGGF1	ADA2	CAV1	ACP5	PTPN11	CASK	PARS2	TNFRSF11A	PIGG	NDUFB3	RINT1	MYBPC3	MYL2	ABCC8	ETFDH	INPP5E	LYRM4	CTCF	RAF1	DDOST	HNF4A	OSTM1	PAX4	TALDO1	CEP120	PRKCZ	UCP2	HNRNPA2B1	CSPP1	TMEM199	SCNN1G	ANTXR1	KRT8	VHL	MUC5B	PALB2	SLC37A4	HIRA	MYRF	SLC10A1	ARL6	AP1B1	SFTPA2	VIPAS39	FANCG	PIGS	STOX1	CD70	PDPN	NOTCH1	TMEM126B	SOS2	SEC24C	MT-TE	TMEM231	SLC22A5	B9D2	APC2	PCCA	KMT2E	EPB42	G6PC3	RAG2	BAP1	COA8	IRAK4	HMOX1	CEP83	RASGRP1	RBCK1	OCLN	SLX4	PSMB9	CHD7	RFXANK	IL2RA	PIK3CA	SCAPER	KPTN	RRAS2	CD81	ENPP1	CCND1	SNX14	PDE11A	FOS	CBL	NOD2	GPR35	RHCE	PEX2	BBS2	MT-ND4	SOX10	IL36RN	SLC35C1	GAA	KCNQ1	HBG1	SDHB	SON	TINF2	MT-ND5	F5	SLC5A5	ACVRL1	NEK1	RREB1	RBM8A	KIF12	NUBPL	TNPO3	COMT	KLF11	RAD51	CASP8	TNNT2	DPM1	FBN1	CP	KCNQ1OT1	TMPRSS6	NELFA	MED12	PSMB10	DZIP1L	NDUFS6	POMC	IFT74	LPL	JAM3	MADD	FANCL	LRPPRC	BCHE	EWSR1	SBDS	TNFRSF1B	BCL7B	GCDH	PRSS1	ARID1A	NDUFS2	KCNN3	IL6	SLC17A5	SOX11	POLD1	MED25	AGL	PCSK1	CTRC	TRMT5	MT-TW	FANCB	CPA1	FANCI	MYD88	AUH	SCARB2	PDGFRB	DMPK	MRPL3	ACADM	LIPE	VPS33B	CEACAM6	MLH3	USB1	DNASE1L3	RFC2	GYPC	PLIN1	HJV	FERMT3	GLRX5	SPRED2	JAK3	TARS2	POU6F2	MFN2	CPT1A	CDIN1	PLAGL1	IGHG2	TCTN1	LTBP3	HMGCS2	SLC39A4	BMP2	TFAM	MMAA	COG5	ANKRD55	MECP2	DLK1	SLC51B	NBAS	TUFM	TTC21B	SLC26A4	GP1BB	MCM4	C2orf69	ADAMTS13	FLNC	EOGT	NDUFA1	STK11	PLEKHM1	ASL	NDUFAF5	IRF4	PFKM	BOLA3	CTSK	LIMK1	BLNK	MMEL1	SLC51A	HSD17B4	TNFRSF13C	SLC26A9	NSD1	CNOT1	ZNF699	ABCG5	PTEN	ERCC1	RFX6	CARS2	LHX3	NFKB1	SETD2	PGM1	SLC25A1	MCCC1	XPR1	PRSS2	FOXF1	C4B	ATAD3A	PALLD	SLC34A2	SMARCE1	TMEM165	GNB2	APPL1	TBL2	LARS1	PARN	GIMAP5	CYBA	RASA2	FANCM	MT-TL1	GNS	MTRR	BLVRA	LCAT	TMEM270	BBS4	VPS45	BPGM	GUCY2D	INVS	NAGS	PIK3C2A	KDM5C	PMS1	OFD1	AHCY	CASZ1	MT-TN	HNRNPA1	LZTR1	IFT122	CEACAM3	NPC1	SLC39A8	SLC2A2	MST1	TPO	SF3B1	BMPER	COX15	POLR3A	WRAP53	SLC11A1	CYP19A1	RBPJ	JAM2	MRPS7
HP_CIRRHOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CIRRHOSIS	APC	TGFB1	TNPO3	EOGT	SCARB2	HFE	TERC	ENG	CYP7B1	DKC1	TMEM67	MPV17	FCGR2A	APOE	SKIV2L	CASP8	SMPD1	TINF2	FAH	AP1S1	HBB	MPI	USB1	NR1H4	JAK2	GBE1	LBR	GBA	SFTPC	SERPINA1	TERT	SLC40A1	POLG	NGLY1	FARSB	SEMA4D	TREX1	IGF2R	TCF4	CC2D2A	MED12	MMEL1	LIG3	CAV1	TALDO1	BCS1L	TTC26	AXIN1	MET	COG4	HJV	CTNNB1	KRT18	GLRX5	INPP5E	SLC30A10	GDF2	ALDOB	DGUOK	IRF5	SPIB	DOCK6	CD40LG	PIK3CA	IL12A	PYGL	CTC1	PHKB	ATP8B1	RRM2B	ABHD5	PPARG	MARS1	ITCH	KRT8	ABCB11	MUC5B	PEX1	SMAD4	ATP6AP1	PHKG2	CFTR	SLC25A13	TFR2	CAVIN1	ARG1	HSD3B7	BMP2	RPGRIP1L	FOS	IL12RB1	TFAM	ARHGAP31	GALT	ATP7B	NOP10	TJP2	CALR	BSCL2	NPM1	AP1B1	SFTPA2	GPR35	LIPA	AGPAT2	IL21R	COG6	MST1	NHP2	ALMS1	ACVRL1	TNFSF15	DLL4	UROD	RTEL1	KIF3B	TTC37	MTTP	PIGA	PHKA2	FECH	NOTCH1	WRAP53	PKHD1	ATP6AP2	IFT43	JAG1	CCDC115	YARS1	PDGFRL	TRMT5	HAMP	ABCB4	F5	DCDC2	TYMP	ASS1	SLC7A7	TP53	RBPJ	NPHP3	PARN	KIF12	POU2AF1
HP_HEPATIC_FIBROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATIC_FIBROSIS	TNPO3	EOGT	B9D2	RINT1	TMEM67	GPD1	ASL	TRIM32	CCDC28B	SKIV2L	INSR	MET	BBS12	GBA	DPM1	INPP5E	TMEM216	AP1S1	HBB	DLL4	MPI	ASAH1	IFT172	CEP164	BBS4	BBS1	SLC25A13	SEMA4D	TCTN2	INVS	DYNC2I2	TCF4	CC2D2A	MED12	MMEL1	UNC45A	LZTFL1	DZIP1L	SLC51A	SDCCAG8	TTC26	BBS9	FADD	TALDO1	IFT27	OFD1	B9D1	CSPP1	DGUOK	IRF5	SPIB	TMEM237	BBS5	DOCK6	HJV	GLIS3	MKKS	IL12A	PYGL	TCTN3	IFT74	PHKB	CEP290	SCAPER	MARS1	CEP19	TRAF3IP1	NHP2	NPHP3	BBS10	TXNDC15	PMM2	TCTN1	PEX1	ATP6AP1	PHKG2	RNU7-1	SCYL1	IFT122	BBS7	PNPLA6	WDR19	NOP10	RPGRIP1L	IL12RB1	ABCD3	ARL6	ARHGAP31	GPR35	BBIP1	ACADVL	ANKS6	PKHD1	BBS2	LIPA	MST1	TMEM107	MKS1	HAMP	WDPCP	ALG9	CFAP418	ALMS1	TNFSF15	TTC8	NPHP4	DYNC2I1	ABCB4	SLC40A1	NPHP1	KIF3B	TTC37	MTTP	IARS1	IFT140	USP53	PHKA2	CTNNB1	NOTCH1	AGL	SLC51B	RPGRIP1	IFT80	NEK1	DYNC2H1	NEK8	RBPJ	WDR35	DCDC2	PTRH2	PLIN1	KIF12	POU2AF1	TMEM231	IQCB1
HP_CHOLESTASIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOLESTASIS	AKR1D1	TNPO3	UGT1A1	PKLR	RINT1	EPB41	SLCO1B3	CYP7B1	LBR	SLC25A13	MPV17	POMC	TMEM67	EPCAM	ABCC2	ETFDH	SLC4A1	TSHB	RHAG	PFKM	HBB	G6PD	ASAH1	PRPS1	PEX3	CTCF	PTPN3	HADHA	TSHR	TMPRSS6	TCF4	MED12	MMEL1	SPTB	UNC45A	PIEZO1	DZIP1L	SLC51A	SLCO1B1	TTC26	NR1H4	PROP1	HSD17B4	ATP8B1	IER3IP1	FH	HADHB	SLC16A2	TPI1	ALDOA	RAB27A	ALDOB	EIF2AK3	BRCA1	IL12A	CYP27A1	SMPD1	MARS1	LPL	KRT8	GALT	DEF6	PRF1	ACADVL	SHPK	DPAGT1	ADK	SPTA1	RNASEH2C	TG	NSD1	ATP7A	SC5D	ZNF699	IFIH1	GCLC	PHKG2	PALB2	ARG1	RFX6	HSD3B7	NEUROG3	RNASEH2B	IL12RB1	ABCD3	LHX4	LHX3	NOTCH2	TJP2	SLC10A1	SETD2	WDR35	CALR	SMAD4	VIPAS39	PGM1	CYP7A1	STX11	FCGR3B	POU1F1	ANKS6	PEX16	PEX14	PEX6	TBX19	PRSS1	PRSS2	PEX19	SPTBN1	AMACR	LYST	IYD	SERPINA1	MMACHC	PAX8	GALM	TP53	PEX12	PALLD	IFT140	PHKA2	HNF1B	SLC2A1	PCSK1	CTRC	GNB2	PKHD1	DUOXA2	JAG1	SLC37A4	HYOU1	TRMU	ATP11C	FLI1	UBR1	CPOX	ABCB4	DCDC2	HK1	CDAN1	CASR	RNU4ATAC	SPINK1	PEPD	DHCR7	NPC2	BCS1L	NPHP3	HMGCL	CPA1	PIGA	POU2AF1	SP110	SAMHD1	SLC44A1	APC2	PEX1	VPS33B	DHFR	KMT2E	CLDN1	BLVRA	INSR	EPB42	ADAR	PEX11B	GNAS	SEC23B	AP1S1	PRKAR1A	KCNN4	RABL3	BPGM	GALE	FARSB	SEMA4D	PEX10	PEX13	CEP83	GYPC	OCLN	PEX5	NKX2-5	PEX26	KRT18	GLRX5	LYZ	SLC30A10	CDKN2A	DGUOK	IRF5	SPIB	ALG8	ABCB11	GLIS3	DUOX2	ETFB	CDIN1	ANK1	BAAT	GALK1	TRAF3IP1	JAK2	ALG6	ATP6AP1	GFM1	SAA1	TFAM	GPI	SPOP	ATP7B	TRHR	HESX1	RHD	GPR35	RHCE	LIPA	CFTR	BRCA2	NPC1	PEX2	ARL13B	COG6	MST1	TPO	TNFSF15	STXBP2	APOA1	IARS1	IL2RG	USP53	TTC37	UNC13D	AP1B1	TREX1	SLC51B	HBG2	NBAS	B2M	EARS2	ATP6AP2	CCDC115	YARS1	SLC5A5	COG7	SLC26A4	KRAS	IFT172	CDKN1B	ETFA	NEK8	F5	POLG2	RNASEH2A	COX4I2	KIF12	IL18BP	FGA	ADAMTS13	CASK	PARS2
HP_HEPATIC_FAILURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATIC_FAILURE	AKR1D1	TNPO3	PTPN22	MT-TL1	PEX1	RINT1	CYP7B1	MRM2	DKC1	MT-TT	MPV17	NHLRC1	SMPD1	FAH	ACAD9	PEX11B	LIPA	HLA-B	MT-ND3	MPI	ASAH1	IKZF1	USB1	NR1H4	GBE1	PEX3	BTNL2	POLG	SEMA4D	HADHA	PEX10	OSTM1	PEX13	PEX19	TCF4	CC2D2A	MED12	MMEL1	CYC1	F13B	PEX5	COG4	PEX26	FH	HADHB	INPP5E	NDUFS4	ATRX	GDF2	MEFV	DGUOK	IRF5	PCK1	SPIB	COX16	SLC25A20	MT-TK	EIF2AK3	IL12A	XIAP	CTC1	RYR1	COQ2	HADH	MARS1	ITCH	BAAT	TERC	GALT	DEF6	JAK2	CPT2	PCK2	MT-TV	SMAD4	MT-ATP6	SC5D	SH2D1A	SCYL1	IFT122	HSD3B7	PEX14	RPGRIP1L	HLA-DRB1	GFM1	IL12RB1	TFAM	ABCD3	ACTG2	ATP7B	NOP10	TJP2	DLD	MT-ND2	CALR	NPM1	CPT1A	GPR35	IL21R	EPM2A	NPC1	PEX2	CEP164	SLC2A2	GBA	PEX6	MT-ND4	MST1	CACNA1S	ALMS1	ACVRL1	TNFSF15	SERPINA1	MT-ND6	RTEL1	SLC25A15	PEX12	HFE	IARS1	FECH	P4HA2	ZNFX1	TTC37	NBAS	TINF2	WRAP53	JAG1	AMACR	CCDC115	TRMU	UBR1	MT-ND5	ALDOB	TERT	DAXX	ENG	SLC7A7	IFT172	F13A1	F5	LARS1	MT-TW	POLG2	NHP2	TMEM67	OTC	PARN	PORCN	MRPS7	PEX16	IL18BP	POU2AF1	SP110	MT-ND1
HP_HEPATOCELLULAR_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATOCELLULAR_CARCINOMA	APC	TNPO3	FASLG	HFE	BMP2	CPOX	FAS	SLC37A4	IL12RB1	MSH6	TJP2	HMBS	CASP8	FAH	RPS20	GPR35	PRKCD	G6PC1	HBB	MLH3	JAK2	SLC2A2	SPRTN	TGFBR2	MST1	SERPINA1	BMPR1A	RASGRP1	SLC25A13	SEMA4D	SEMA4A	IGF2R	TNFSF15	TCF4	FAN1	MMEL1	MSH2	UROD	AXIN1	MET	KRAS	CTNNB1	PMS1	EPCAM	IRF5	PMS2	SPIB	AHCY	JAG1	PDGFRL	PRKAR1A	IGF2	PIK3CA	MLH1	IL12A	PYGL	F5	ATP7B	CASP10	PHKB	TP53	ABCB11	POU2AF1	GIMAP5	ABCB4	PPOX
HP_MACROVESICULAR_HEPATIC_STEATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACROVESICULAR_HEPATIC_STEATOSIS	CPT2	TYMP	RRM2B	MPV17	MICOS13	MTX2	POLG	VPS33A	EARS2	NDUFAF1	TRMU	LIG3	CYP7A1
HP_PERIPORTAL_FIBROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPORTAL_FIBROSIS	SLC51B	ACADVL	DGUOK	ALG9	PKHD1	LIPA	DZIP1L	SLC51A
HP_HEPATIC_CYSTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATIC_CYSTS	IFT122	GANAB	PKD2	BICC1	ALG8	TSC1	OFD1	EXTL3	ALG9	DNAJB11	TSC2	TTC21B	SEC63	PKHD1	WDR19	JAK1	NPHP3	PKD1	LRP5
HP_BILE_DUCT_PROLIFERATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILE_DUCT_PROLIFERATION	TTC26	MKS1	HSD17B4	TMEM67	DCDC2	MICOS13	POLG	RPGRIP1L	FARSB	NPHP3	TMEM216	KIF12	SLC37A4	WDR35	MED12	CC2D2A	CYP7B1	ABCB4	PHKG2	CEP290
HP_MICRONODULAR_CIRRHOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICRONODULAR_CIRRHOSIS	APC	AXIN1	MET	ARG1	CTNNB1	KIF3B	ABHD5	TALDO1	KRT18	TP53	KRT8	POLG	NGLY1	SLC30A10	TREX1	DGUOK	ATP6AP2	CASP8	IGF2R	PDGFRL	PIK3CA
HP_MICROVESICULAR_HEPATIC_STEATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROVESICULAR_HEPATIC_STEATOSIS	LRPPRC	MRPL44	CARS2	MPV17	BCS1L	TFAM	POLG	NGLY1	YARS1	TRMU	ACAD9	DNAJC19	UNC45A	VPS4A
HP_X_LINKED_RECESSIVE_INHERITANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_X_LINKED_RECESSIVE_INHERITANCE	FAM50A	POF1B	MECP2	OPN1LW	WAS	AR	CLIC2	NYX	AIFM1	POLA1	ABCD1	GPC3	FRMPD4	KIF4A	HPRT1	GPRASP2	EBP	SYP	MBTPS2	PTCHD1	PRPS1	ATP2B3	LAS1L	GPC4	GATA1	BGN	FGD1	FGF13	EMD	IGF2	GPR143	MAMLD1	POU3F4	TAFAZZIN	ATP7A	FANCB	ZIC3	CD40LG	OCRL	XIAP	FTSJ1	NSDHL	CNGA1	GRIA3	IKBKG	EIF2S3	CUL4B	CFP	F9	DDX3X	BRWD3	TMLHE	BCAP31	SH3KBP1	MAGED2	ALAS2	USP9X	EDA	CLCN5	FGF16	TRAPPC2	DKC1	VMA21	FHL1	PHF8	COL4A6	OFD1	SMC1A	SMS	PLP1	MSN	ARHGEF9	PHKA2	NDP	DNAAF6	GJB6	CACNA1F	UPF3B	ARSL	MED12	OPN1MW	ATRX	HS6ST2	OTC	FLNA	ATP11C	LRAT	IQSEC2	SLC9A7	RBM10	TSPAN7	PGK1	STAG2	RPGR	IL1RAPL1	RS1	GPR179	ROM1	SYN1	THOC2	GK	NR0B1	TAF1	TEX11	FOXP3	HCFC1	ATP6AP2	STS	AIPL1	PHF6	CFAP418	MAGT1	L1CAM	SSR4	CYBB	CLRN1	KDM5C	RAB39B	RPL10	TSR2	GLA	CCDC22	FRMD7	USP27X	ALG13	OTUD5	OPHN1	IGSF1	TIMM8A	CFAP47	BCORL1	NONO	DMD	MTM1	ATP6AP1	SLC9A6	TLR7	SH2D1A	ARX	IL2RG	MAOA	IGBP1	LAGE3	RBP3	UBA1	NDUFA1	CLDN2	RBMX	SLC16A2	SLC6A8	BTK	NKAP	CLCN4	AVPR2	ANOS1	MID1	PHKA1	ABCB7	ZC4H2	CRX	IRS4	PIGA	NAA10	AP1S2	RLIM	UBE2A	DLG3	PDE6G	CHRDL1	PAK3	GJB2	IDS	AFF2	MID2	OGT	PQBP1	AMMECR1	KLHL15	F8	ARL6
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	GDAP1	CHRND	RPL15	POLG	NEB	CADM3	GATA1	SALL4	GARS1	KANSL1	FBXO38	TIA1	PMP22	SQSTM1	DYSF	FXN	DOK7	ACTA1	CHRNE	FBXW11	TRAPPC11	AGRN	VCP	LRP4	JAG1	RPL18	RPS17	RPS7	DCTN1	PNPLA2	MORC2	TRPV4	CHCHD10	SCN4A	RPS28	KLHL9	LDB3	MYH7	PDK3	RPL35	FGF10	HARS1	REEP1	SLC39A13	RPL11	ALS2	NEFL	COLQ	RPL5	TK2	RPL26	HINT1	BICD2	AAAS	COL13A1	RPS27	NGLY1	BSCL2	LAMB2	RPS24	LMNA	GMPPA	FLNC	PLOD3	SBF2	RPS20	ADA2	HOXA13	MUSK	CAV3	RPS19	SLC25A21	SPG11	STIM1	RPL27	FGFR2	CHRNA1	RPL35A	RPS10	RYR1	FLNA	RPS26	RPL31	FUZ	CHRNB1	MAP3K7	FGFR3	RPS15A	RPS29	TBX5	MFN2	AK9	TSR2	GNE	RAPSN	GJB1	COMP	SLC52A3	FGD4	SVBP	MPZ
HP_X_LINKED_DOMINANT_INHERITANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_X_LINKED_DOMINANT_INHERITANCE	IKBKG	PLS3	SMPX	SMC1A	SLC35A2	SYN1	HNRNPH2	CDKL5	HCCS	PDHA1	SRY	CHM	FHL1	KDM6A	COX7B	DIAPH2	LAMP2	G6PD	USP9X	CLCN4	FMR1	CCNQ	WDR45	ALAS2	HSD17B10	MECP2	ACSL4	MED12	AMER1	COL4A5	UBQLN2	AMELX	RPS6KA3	PHEX	FLNA	NAA10	OFD1	HDAC8	HDAC6	RNF113A	CASK	PDK3	NHS	NDUFB11	FRMD7	ALG13	GDI1	EFNB1	IQSEC2	PORCN	GJB1	EBP	NEXMIF	GPR101	NSDHL	DDX3X	MSL3	ATRX	BCOR	ZC4H2	EDA
HP_HETEROGENEOUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HETEROGENEOUS	APC	EDARADD	CACNA1S	SUFU	ITGB4	MAPT	TPM2	AAGAB	LITAF	HADH	ERCC6	NQO2	BSND	IL6	CASP8	MT-ND1	CFTR	LMNA	APOL4	MTMR2	MTHFR	SIX3	TSC2	TP53	RB1CC1	CDH1	CLCN7	DHH	ZMPSTE24	MPZ	NEFL	AXIN1	PSEN1	MET	SLC25A4	CTNNB1	CHI3L1	TMEM216	HTR2A	GABRG2	NEFH	ACTA1	TPM3	HCRT	KCNJ18	ANK2	HFE	CACNA1F	KRT16	XRCC3	MECP2	SLC22A18	ESR1	BARD1	SNAI2	PPM1D	EDNRB	GDAP1	MCCC2	PTCH2	KCNE2	ELN	SNRPN	COMP	SBF2	EGR2	IQCB1	NPHP1	IGF2	PHB1	ORC1	JPH1	KCNE1	GCK	ENAM	GLUD1	KIF1B	HLA-DQA1	EDA	SH3TC2	LAMC2	RPGRIP1L	RTN4R	MT-ND6	ERCC8	BSCL2	CAV3	RAD54L	MT-ND5	AGPAT2	HPS1	MCCC1	FOXC1	APP	GPC3	KRT83	SURF1	EYA1	INSR	FGFR1	KRT86	MBTPS2	MYH7	TNFRSF11A	PITX2	ATP1A2	BRCA2	ITPR3	PMP22	MSX2	NLGN3	FBLN5	PIK3CA	GDF6	IFNG	KCNQ2	ABCB4	KCNQ1	CLCNKB	COL4A4	MT-CO3	TNNI3	NPC2	CREBBP	EDN3	CLCNKA	USH1C	IRF6	NSDHL	NOS3	MT-CYB	DRD3	SCN5A	WT1	CACNA1A	GBF1	DAOA	NHLRC1	PRX	SLC12A1	COMT	DSP	KRT81	NPHP4	PRPH	PTPN22	YARS1	POMT2	HCN2	KRAS	DNM2	BRCA1	CACNB4	CHEK2	H19	ATM	NLGN4X	CHAT	IGF2R	LAMB3	COL17A1	SOX10	TMEM67	CTSC	HLA-B	KCNJ1	KRT17	COL4A3	SELENON	MT-ATP6	SPTA1	FRMD7	MITF	HNF1A	PLAU	KCNH2	BRIP1	MPO	HSPB1	PRKAG2	SOD1	MT-TN	SLC25A38	HSPB8	GPC4	KIF7	MLPH	ABCC8	POLG	MT-ND4L	RAD51	FRZB	AKT1	SIX1	CENPJ	PALB2	MYO7A	DCTN1	ALG10B	SMAD7	DSG2	PTCH1	EPM2A	PEX1	MRPS16	EDAR	MID1	AVPR2	MT-ND4	RYR1	COL4A5	HLA-DQB1	SYN2	NOD2	EP300	CHRNA2	APOL2	VSX1	KCNJ11	RP1	PDGFRL	FGF14	TGFB3	AHI1	ATL1	ACVRL1	HMMR	IHH	WNT3	LAMA3	ADGRV1	DYSF	MT-ND2	CRELD1
HP_MULTIFACTORIAL_INHERITANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIFACTORIAL_INHERITANCE	ADD1	LRIF1	GDF6	SLCO1B3	BMP4	GJA1	HLA-DQA1	SDC3	GJB3	BCR	FRZB	PAX4	NUP214	GNB3	HLA-DRB1	POMC	IL6	PPARG	ALOX5	HTR2A	HNMT	GJB2	BRCA1	GHRL	NLGN4X	NR0B2	UCP3	SERPINH1	ADRB2	CFH	CYP3A5	NOD2	PLA2G7	ENPP1	STOX1	APOL1	ADH1B	HLA-DQB1	F2	PRKCH	GDF3	IL13	GABRA2	ALOX5AP	CCL11	ADH1C	GNB1	ECE1	NOS3	TAL1	NLGN3	SCGB3A2	HLA-B	DYNC2H1	CST3	SMCHD1	ABCG8	NLRP1	SLCO1B1	PDCD1	HLA-G	ADH5	TNF	NEK1	AGTR1	AGRP	GJB6	AGT	CARTPT	SCN5A	TP53	BRCA2	F5	TAL2	IRF6	HLA-C	COL2A1	PTGIS	SHANK3	SLITRK1	SNRPN	MUC7	ADRB3	NBN	BAX	DNMT3B	FLT3	A2ML1
HP_MITOCHONDRIAL_INHERITANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MITOCHONDRIAL_INHERITANCE	MT-TF	MT-TS2	MT-TW	MT-ND4L	CHKB	MT-CO2	NDUFS4	MT-TK	MT-CO1	MT-ND6	MT-ATP6	MT-TQ	MT-ND5	MT-TL1	MT-ND1	MT-TV	MT-TP	MT-TC	MT-CO3	MT-TI	BCS1L	SURF1	TRMU	MT-CYB	MT-ND2	MT-TN	MT-ND4	FDX2	MT-TT
HP_SOMATIC_MUTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SOMATIC_MUTATION	APC	TSC1	ZFHX3	GATA2	TFE3	PIK3CA	MPL	TLR2	NQO2	C1GALT1C1	IL6	WWOX	CASP8	DNMT3A	AR	BRCA2	MET	HRAS	ERBB2	SLC22A18	KRAS	TP53	CDH1	WT1	MINPP1	RB1CC1	PAX3	PLAG1	ASPSCR1	AXIN1	AKT1	FGFR3	JAK2	CTNNB1	MLH3	BUB1	NRAS	BCR	MCC	PTEN	HDAC4	XRCC3	RB1	NR4A3	IDH1	MSR1	FLCN	ESR1	BARD1	CEBPA	PPM1D	PRKN	TAF15	RUNX1	MAD1L1	CCND1	KLF6	PIGT	CYP2A6	AURKA	NBN	BAX	FLT3	IGF2	CHEK2	PHB1	BUB1B	NEK9	RNF6	SLC35A2	MLLT10	KIF1B	DICER1	MTOR	FGFR1	MAP3K8	NUMA1	ASXL1	RAD54L	SSX1	AXIN2	ARHGAP26	RARA	GPC3	NF2	ARMC5	RPS14	BRAF	IL1B	ETV6	ELP1	DCC	PAX6	SH3GL1	BCL10	DLC1	OPCML	POU6F2	SRC	GNAS	LPP	FASLG	EWSR1	SF3B1	STK11	MYD88	SUFU	SMAD4	IL1RN	KIT	TSC2	FOXO1	CBL	BRCA1	MXI1	H19	ATM	SSX2	IGF2R	PTPRJ	PTCH2	FGFR2	CTHRC1	TAL1	TERT	LIG4	MUTYH	PTPN11	PPP2R1B	PLA2G2A	TET2	CALR	BRIP1	PAX7	EP300	IRF1	CHIC2	PICALM	PRCC	PDGFRL	GPC4	GNB1	CASP10	NUP214	RAD51	RHOA	TGFBR2	CREB1	PTPN12	PALB2	SMO	CBFB	ERCC6	RAD54B	NPM1	SRGAP1	MSH3	ADA	ASCC1	EXT1	CDC73	PIGA	PDGFRA	SH2B3	MSH6	HMMR	EGFR	SMARCB1	MYC	TAL2	AIP	ABL1	NF1	LZTS1
HP_ABNORMALITY_OF_THE_CALF_MUSCULATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CALF_MUSCULATURE	DYSF	FKRP	LTBP4	VPS13A	PPARG	BIN1	NEB	DNM2	LMNA	POMT2	TTN	DAG1	GMPPA	POMGNT1	PLEC	CHCHD10	CAPN3	MYH7	FRG1	SGCG	WASHC5	DMD	MATR3	CRPPA	SGCB	TRIM32	CAV3	ANO5	PMP22	TRAPPC11	KCNA1	LIMS2	FKTN	FBN2	FHL1	GMPPB	SGCD	SGCA	SACS	TRPV4	KLHL9	MAP3K20	PNPLA2	FLNC	POMGNT2	MYF6	DES	POPDC3	TCAP	POMT1	LAMA2	POMK	MICU1	MTMR14	AR	PLIN1	UNC45B	RYR1	HINT1	DPM3	AAAS	LARGE1	CIDEC	DHX16	SLC25A1
HP_HEPATOSPLENOMEGALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATOSPLENOMEGALY	TGFB1	IFNGR1	RTL1	MOGS	RUNX1	IDS	HEXB	PLEKHM1	SLC25A13	MVK	CTSA	TMEM67	FCGR2A	DDRGK1	GBA	DPM1	RAG2	ADAR	TET2	CYP7B1	RNASEH2A	HBB	ASAH1	STXBP2	GBE1	RABL3	CTSK	SEMA4D	TCIRG1	GLB1	RASGRP1	NLRP3	HAVCR2	VPS33A	TCF4	MED12	ABCA1	DZIP1L	GNE	TALDO1	PTPN2	COG4	FERMT3	GLRX5	PTPN22	GALK1	CALR	SRSF2	CDKN2A	LPIN2	JAK3	NCKAP1L	CD3D	STEAP3	CLCN7	IL2RA	MEG3	FGFR2	BRCA1	FARSA	NEU1	SLC29A3	MAN2B1	RAC2	AP3B1	CD247	LPL	KPTN	ITCH	PRF1	LBR	IDUA	RNASEH2C	MPL	ZNF699	IFIH1	SNX14	GCLC	PSTPIP1	RNU7-1	CFTR	RNU4ATAC	PALB2	CD27	CYBC1	RNASEH2B	SC5D	CBL	CD3E	RHAG	IFNG	SCYL1	SMAD4	RHD	PRKCD	GPR35	RHCE	COG1	SLC4A1	BRCA2	LYST	LIPA	MST1	STAT3	JAK2	JAK1	COG5	ANKRD55	IL7R	UNC13D	ALMS1	TFE3	TP53	CD70	KIF3B	IARS1	PALLD	ZNFX1	ZAP70	STAT1	DLK1	GNB2	STAT4	CCDC115	IL2RB	XK	CA2	SLC2A1	KRAS	SLC7A7	TNFSF11	PEX2	ADA2	ASXL1	TREX1	RBM8A	RAB27A	NPHP3	CAV1	ALG9	COG7	DCDC2	SP110	SAMHD1	PKHD1	GNPTAB	RAG1
HP_ABNORMALITY_OF_THE_SHOULDER_GIRDLE_MUSCULATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_SHOULDER_GIRDLE_MUSCULATURE	DYSF	COL12A1	CHRND	TGFB3	GDF11	TPM2	POLG	NEB	OPA1	ALX1	PYROXD1	TMEM43	CUL7	MT-TE	CAPN3	SALL4	VCP	DNM1L	FRG1	SPEG	LMNA	RRM2B	FLNB	CRPPA	BRAF	RYR1	DOK7	ACTA1	TRIM32	CHRNE	ALG2	EYA1	AGRN	PSAP	PAX1	LRP4	MYPN	TTN	PAX3	KBTBD13	FKRP	PNPLA2	BICD2	SGCA	PRR12	BIN1	SCN4A	MYMK	TBX3	TWNK	GYG1	PTPN11	MYH7	SMCHD1	GMPPB	CSGALNACT1	ANO5	NEFL	C19orf12	OBSL1	COLQ	TPM3	ABHD5	DNAJB6	SYNE2	FLNA	COL6A2	EMD	ALX3	TK2	COL6A3	REV3L	DPAGT1	COL13A1	POGLUT1	TNPO3	SGCB	ATP6V0A2	LGI4	LRIF1	SELENON	ITGA7	LAMB2	POMT2	KLHL41	MYH2	GFPT1	SGCG	VWA1	DMD	MATR3	TRPS1	GALC	MUSK	FHL1	HACD1	CCDC8	SGCD	CHRNA1	MYOT	MYBPC1	GDAP1	SYNE1	SLC25A4	TRPV4	CHRNB1	MAP3K7	SQSTM1	POLG2	MYL2	RAF1	COL6A1	TBX5	MAP3K20	AK9	PLXND1	GNE	SEPTIN9	RAPSN	HNRNPDL	RBM8A	KCNJ2	ALG14	FBN1
HP_ABNORMALITY_OF_THE_FOOT_MUSCULATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_FOOT_MUSCULATURE	GNE	MTMR14	KLHL9	BIN1	DNM2	MYH7	LMNA	HNRNPDL	RYR1	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	VAMP1	DYSF	FKRP	SRY	BIN1	NEB	DNM2	TMEM43	DAG1	PI4KA	POMGNT1	CHCHD10	CAPN3	DNAJC6	FRG1	WASHC5	LMNA	CRPPA	SGCB	TRIM32	TRAPPC11	KCNA1	LIMS2	VCP	FKTN	FBN2	GMPPB	KIF5A	TTN	SGCA	SACS	DMD	KLHL9	LDB3	MYH7	MAP3K20	POMT2	PNPLA2	KIF1A	MYF6	DES	POPDC3	TCAP	POMT1	ANO5	REEP1	ATP13A2	LAMA2	NEFL	POMK	MICU1	SYNE2	RASA1	MTMR14	ANO10	EMD	PMP22	AR	HINT1	AAAS	LARGE1	CLCN1	PODXL	CAV3	TRPV4	RYR1	SLC25A1	SYNJ1	LTBP4	VPS13A	DKK1	ABCD1	PPARG	GMPPA	DYNC1H1	PLEC	SGCG	ADSS1	MATR3	DARS2	LMX1B	FHL1	SPAST	SGCD	SYNE1	FLNC	POMGNT2	GNE	MT-ATP6	ZFYVE26	PLIN1	HNRNPDL	UNC45B	DPM3	BSCL2	CIDEC	DHX16
HP_ABNORMAL_ABDOMEN_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ABDOMEN_MORPHOLOGY	FSHR	IFNGR1	IL12A-AS1	EPB41	IL12A	CTSA	REL	GSN	DDRGK1	FCGR2A	RRAS	DPM2	CDKN1C	GPC3	PRKCSH	AGA	FAH	PIK3R1	SKIV2L	RIT1	TCIRG1	YARS2	SUMF1	PEX3	PNP	TGFB1	TTC26	ATM	C1QBP	PSAP	NBEAL2	MYORG	USB1	TPI1	ERAP1	ATRX	CLCN7	UMPS	CD3D	IKZF3	PYGL	PEX7	CTC1	PHKB	DLD	MARS1	PCCB	GBA	DEF6	RIPK1	PRF1	ACADVL	TOGARAM1	SPTA1	NDUFAF3	STAT4	PEX5	CNTNAP2	HBA1	BCR	SC5D	IFIH1	PSTPIP1	SLC20A2	CASP8	RNU7-1	HSD3B7	HBA2	MVK	IL12RB1	ABCD3	NLRP3	NDUFS8	CALR	SDHD	HBB	SH2B3	PEX6	TKFC	SPTBN1	JAK1	SGSH	SLC25A19	LYST	ALMS1	NDUFAF1	SERPINA1	PHKA2	GALM	TRAPPC11	RTEL1	NDUFB10	IL1RN	NIPBL	CD96	RMND1	MIF	LRP5	TTC37	PEX12	FUCA1	UROS	RNASEH2C	JAK2	PIK3CA	SLC4A1	HYOU1	FLI1	XK	RHAG	GCLC	TIMMDC1	SLCO2A1	NPC2	PTRH2	CEP57	NPHP3	AKR1D1	NCF4	APOE	PEX16	POU2AF1	DCDC2	SP110	DHDDS	PKHD1	MT-ND1	LACC1	IDS	MPL	MYPN	COX14	PEX11B	GALNS	ADAR	NDUFAF4	VPS4A	NR1H4	TBX1	GBE1	PRKAR1A	MAN2B1	KCNH1	RABL3	FAM111A	KRAS	LIG4	NGLY1	GALE	FARSB	CD19	CTLA4	NLRC4	ADAMTS3	TNFRSF1A	PEX26	SLC25A13	NDUFS7	PIGM	MS4A1	TPP2	IL2RB	IRF5	SRP54	DOCK6	GLIS3	MT-TK	OTUD5	ICOS	BTNL2	B4GALT1	ATP8B1	ERCC6	MICU1	USP18	ITCH	WDR19	TERC	ABCB11	LMNA	SPTB	SLC6A14	ATP6AP1	SH2D1A	RNU4ATAC	STX11	IDUA	NLRP1	FASLG	VPS13A	SNX10	PEX14	TET2	GFM1	HLA-DRB1	GNE	FAS	SAA1	CCND1	IFNG	GUSB	NLRP12	RHD	LIPA	TAPT1	C4A	ARL13B	BRCA2	CR2	MMAB	DNAJC21	ERCC8	UNC13D	CPT2	TFE3	EIF2AK3	ADA	MT-ND6	DLL4	TNFRSF13B	SLC29A3	APOA1	TRIP13	IARS1	HYMAI	PEX13	IL2RG	ZNFX1	B2M	ATP6AP2	ANK1	YARS1	SMPD1	PRKCD	SEC63	COG4	SLC30A10	IFT172	GSTM3	ETFA	WDR35	RNASEH2A	GATA1	AGGF1	ADA2	ATP6V1B2	CAV1	AKT2	IL18BP	PTPN11	CASK	TNFRSF11A	EFL1	NDUFB3	RINT1	LBR	MYBPC3	ABCC2	MYL2	KCNJ11	PEX1	XRCC4	ETFDH	ABCA12	G6PC1	ASAH1	APOC2	RAF1	KIF20A	FOXRED1	SLC40A1	POLG	OSTM1	GLB1	CC2D2A	TFAP2A	TALDO1	PTPRC	UCP2	INPP5E	ALDOB	PCK1	PSMG2	SLC25A20	STEAP3	FGFR2	BRCA1	ANTXR1	NCF2	CD247	CBS	NDUFAF2	TNFSF12	IRAK1	UFD1	HMGCL	UBAC2	PALB2	CD27	TMEM70	ARG1	DIS3L2	SLC37A4	HIRA	NPM1	SMAD4	AGPAT2	HNF1A	COG1	STAT3	EDNRA	PIGS	SOS1	TP53	PSMB4	CD70	HADHA	TSC2	KLF1	NOTCH1	CCR1	HGSNAT	TMEM126B	COL3A1	TRMU	NRAS	SOS2	MUSK	SEC24C	CDAN1	NAB2	ERCC4	MT-TE	NHP2	TRIM37	SLC22A5	RTL1	RUNX1	CARD11	ALPK1	PCCA	NCF1	ITK	CLDN1	EPB42	NDUFS3	G6PC3	ESCO2	RAG2	ABCB4	BAP1	ZAP70	DCLRE1C	NFKB2	NDUFB11	MPI	INSR	COA8	MAGT1	HMOX1	PC	RASGRP1	RBCK1	NDUFS4	OCLN	ASXL1	PSMB9	MEFV	DGUOK	PRKAG2	CHD7	IL2RA	ALG13	MPC1	MEG3	RFT1	NEU1	RAC2	KPTN	RRAS2	CD81	RMRP	MT-TV	ENPP1	MT-ATP6	SNX14	SYK	PPARG	FOS	CBL	ATP7B	NOP10	PLVAP	FMO3	SCYL1	NOD2	MMUT	GPR35	RHCE	MRPS22	PEX10	CCBE1	PEX2	FCHO1	MT-ND4	NDUFA11	SOX10	PTEN	TNFSF15	SLC35C1	GAA	KCNQ1	STXBP2	GPC4	SOCS1	SLC25A15	NDUFV2	NDUFA6	HBG1	RAG1	IL7R	TINF2	GNMT	WDR1	EARS2	CCDC115	GPIHBP1	MT-ND5	CA2	WT1	RREB1	SLC7A7	EXTL3	COX4I2	RBM8A	RAB27A	TMEM67	KIF12	NUBPL	COG7	ADAMTSL2	TNPO3	PKLR	CYP7B1	DKC1	COMT	MPV17	BRAF	LPIN2	TNNT2	DPM1	PIK3CD	FBN1	MT-ND3	G6PD	NDUFV1	KCNQ1OT1	SUCLG1	TCF4	MED12	PSMB10	ABCA1	ACAT1	DZIP1L	HLA-B	COX5A	ALG1	PTPN22	GALK1	SPP1	NDUFS6	CD28	XIAP	CASP10	LPL	GALT	JAM3	MADD	TNFRSF4	NDUFS1	PHKG2	FDX2	TSFM	CAVIN1	KIF1B	EWSR1	NAGLU	SBDS	ARHGAP31	TRPV6	MRAS	BUB1B	TNFRSF1B	GCDH	HPGD	TRNT1	TTC7A	NDUFS2	KCNN3	PMM2	IL6	SLC17A5	POLD1	IFT140	CTNNB1	BTD	STAT1	SLC2A1	AGL	NAGA	SMAD3	CPOX	CIDEC	HK1	HBG2	MT-TW	ABCG8	AKT1	ALG9	ARL6IP6	GATA2	LRBA	MYD88	BCL6	AUH	SCARB2	PDGFRB	HEXB	MRPL3	ACADM	DHFR	CEACAM6	BCL2	SEC23B	TLR4	FBP1	DNASE1L3	KCNN4	CD55	PIEZO1	HAVCR2	GYPC	CYBB	PNPLA2	PTPN2	HJV	FERMT3	GLRX5	SPRED2	LYZ	SPIB	JAK3	HFE	MFN2	NCKAP1L	CPT1A	FARSA	ETFB	CDIN1	PLAGL1	ABHD5	AP3B1	LTBP3	FOXP3	CFTR	MRPS28	STAT6	HMGCS2	SLC39A4	CYBC1	BMP2	RPGRIP1L	UROD	SLC34A3	TFAM	LIPE	SAMD9L	ABL1	MMAA	SRSF2	COG6	COG5	ANKRD55	DHCR24	BUB1	MPIG6B	PEPD	CFAP410	MTTP	ARSB	PEX19	USP53	BSCL2	ACOX1	DLK1	TUFM	AMACR	PDGFRA	HAMP	TERT	DAXX	IL23R	NEK8	F5	GP1BB	POLG2	MCM4	PHYH	OTC	C2orf69	FGA	GNPTAB	FLNC	EOGT	MOGS	NDUFA1	PLEKHM1	GPD1	NDUFB9	ASL	NDUFAF5	IRF4	ALG8	TKT	INPPL1	ABCC6	MT-CYB	BOLA3	XYLT1	CTSK	IGF2	PDGFB	ABCC8	VPS33A	MMEL1	PSMB8	HSD17B4	IRF8	ALDOA	TSC1	TNFRSF13C	CD40LG	SLC26A9	BACH2	ARVCF	NDUFAF8	NOTCH2	NHLRC2	DCTN4	CASR	DPAGT1	TBXAS1	ZNF699	MT-ND2	ERCC1	AP3D1	MCOLN1	TNNI3	RNASEH2B	CD3E	NFKB1	PGM1	SLC25A1	XPR1	SURF1	ATAD3A	SLC9A3	KIF3B	PALLD	TNFSF11	SOX18	SLC34A2	TMEM165	GNB2	RHBDF2	MKS1	BUB3	ASS1	LARS1	PARN	ERBB3	FAM111B	ALAS2	GIMAP5	SAMHD1	CYBA	RASA2	MT-TL1	GNS	LCAT	CLCA4	MET	CCDC47	DYNC2LI1	FAT4	VPS45	BPGM	IL10	SEMA4D	GUCY2D	HNF4A	SCO1	NAGS	PIK3C2A	CDKN2A	THPO	STX1A	GP1BA	BAAT	UQCRB	MT-TN	LZTR1	JMJD1C	IFT122	CEACAM3	MTX2	GPI	NPC1	LAT	SLC2A2	MST1	ALG2	SF3B1	CTNS	KLRC4	PIGA	TREX1	WRAP53	SLC11A1	PPP1R21	COX10	EIF5A	RBPJ	JAM2	ATPAF2	MRPS7	KIT
HP_METATARSAL_SYNOSTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METATARSAL_SYNOSTOSIS	FBLN1	FGF9	SLC26A2	SALL1	HOXD13	POR
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	NEFL	LMX1B	SYNE2	ANO5	FHL1	LMNA	TMEM43	EMD	DYNC1H1	MYH7	HNRNPDL	SGCD	ADSS1	TRPV4	RYR1	REEP1	SYNE1
HP_SOMATIC_MOSAICISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SOMATIC_MOSAICISM	GNAS	SMO	SLC35A2	DICER1	PIK3CA	KRAS	HRAS	RHOA	NRAS	FGFR1	ADA	FGFR3
HP_ABNORMALITY_OF_THE_HIP_GIRDLE_MUSCULATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_HIP_GIRDLE_MUSCULATURE	TRIM32	VCP	ANO5	SGCB	LMNA
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	GDAP1	TGFB3	GDF11	TPM2	POLG	BIN1	OPA1	PYROXD1	MT-TE	GATA1	GIPC1	CAPN3	SALL4	GARS1	KANSL1	VCP	FBXO38	TIA1	DNM1L	PMP22	FRG1	INF2	LMNA	RRM2B	FLNB	BRAF	RYR1	SQSTM1	DYSF	FXN	DOK7	TRIM32	CYP7B1	CHRNE	FBXW11	ALG2	EYA1	TRAPPC11	AGRN	PSAP	JAG1	RPL18	PAX3	RPS17	RPS7	COL12A1	KBTBD13	BICD2	TRPV4	CHCHD10	SCN4A	RPS28	KLHL9	TBX3	LDB3	TWNK	GYG1	PDK3	MYF6	RPL35	FGF10	ANO5	REEP1	SLC39A13	LAMA2	ALS2	NEFL	SPG7	C19orf12	OBSL1	COLQ	TPM3	RPL5	SYNE2	MTMR14	GMPPB	KAT6A	COL6A2	EMD	ALX3	KY	MT-CO3	TK2	POMT1	AAAS	COL13A1	RPS27	SGCB	CHRND	LRIF1	ITGA7	PTPN11	HK1	LAMB2	FLNC	SBF2	PLEC	TSEN34	GFPT1	SGCG	ADSS1	RPS20	TSEN15	GALC	MUSK	CAV3	FHL1	PAX1	RPL27	SEPSECS	FKRP	FGFR2	MYMK	CHRNA1	NOTCH2NLC	RPL35A	MYOT	MYBPC1	RPS10	NDRG1	VPS37A	RPS26	CUL7	CPLANE1	SLC25A4	GJB1	CHRNB1	POLG2	FGFR3	MYL2	RPS15A	RAF1	MAP3K20	TSEN54	BSCL2	GNE	RAPSN	ACTA1	MTPAP	NEFH	FGD4	ALG14	FBN1	MPZ	RPL15	CPOX	NEB	DNM2	ALX1	TMEM43	CADM3	HMBS	SPEG	CRPPA	CEP126	TSEN2	LRP4	MYPN	KIF5A	TTN	DCTN1	PNPLA2	SGCA	PRR12	MORC2	CLDN11	MYH7	SMCHD1	CSGALNACT1	HARS1	TCAP	RPL11	ABHD5	DNAJB6	FLNA	COL6A3	REV3L	RPL26	DPAGT1	HINT1	POGLUT1	TNPO3	ATP6V0A2	NGLY1	LGI4	SELENON	RPS24	POMT2	GMPPA	KLHL41	MYH2	PLOD3	LIPE	VWA1	DMD	MATR3	ADA2	LMX1B	TRPS1	HOXA13	RPS19	SLC25A21	SPG11	STIM1	LPIN1	HACD1	CCDC8	SGCD	TNR	MT-CO1	SYNE1	RPL31	FUZ	JAG2	MAP3K7	HSPB1	COL6A1	RPS29	TBX5	MFN2	AK9	TSR2	PLXND1	SEPTIN9	COMP	SLC52A3	HNRNPDL	RBM8A	SVBP	KCNJ2	PPOX
HP_Y_LINKED_INHERITANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_Y_LINKED_INHERITANCE	TBL1Y	USP9Y	DAZ3	RPS4Y2	KDM5D	HSFY1	DAZ2	DDX3Y	BPY2	SRY	CDY2A	PRY	PRY2	DAZ1	CDY1	RBMY1A1	VCY
HP_ABNORMALITY_OF_THE_UPPER_ARM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_UPPER_ARM	FLNB	RSPO2	FGF9	IFT122	TBX3	POR	DONSON	TMEM43	LONP1	RECQL4	GNAS	TBX15	IHH	GNPAT	FGFR2	RBM8A	LMNA	TMEM251	CYP26B1	LMBR1	LMX1B	FHL1	ATP7A	B3GALT6	NOG	WNT7A	DYM	SUCLG1	SGCD	GPC6	GNPTAB	TGFB1	POLR3A	SYNE1	GDF5	EZH2	SHOX	MORC2	PEX5	SLC26A2	ALG12	FZD2	TONSL	GSC	MYSM1	MACROH2A1	TBX5	PITX1	SRCAP	FANCB	ZIC3	SALL4	TCAP	TRPV4	AGPS	PTDSS1	SYNE2	RNU4ATAC	STX16	KIAA0753	COL2A1	EMD	HNRNPDL	FGFR1	SNRPB	PRKG2	FLNA
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	HNRNPDL	LMX1B	MORC2	SGCD	SYNE2	FHL1	LMNA	TCAP	TMEM43	EMD	SYNE1
HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SKELETAL_MUSCULATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SKELETAL_MUSCULATURE	POMT1	SELENON	ITGA7	FKTN	B3GALNT2	SALL4	CRPPA	HBB	LMX1B	SIL1	CAV3	PMP22	HACD1	PIEZO2	DAG1	B4GAT1	COL4A1	FBN2	MYMK	FLNA	RXYLT1	POMT2	POMGNT2	FKRP	TPM2	TRPV4	TBX3	MAP3K7	GLE1	MYL2	TBX5	MAP3K20	CHRNG	CHRNA1	POMGNT1	PLXND1	ALG9	TPM3	INPP5K	LARGE1	ACTA1	COLEC11	RBM8A	REV3L	POMK	CHRND	ATP6V0A2
HP_CONTIGUOUS_GENE_SYNDROME	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONTIGUOUS_GENE_SYNDROME	WT1	KANSL1	PAX6	PAX3	RPS14
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	SALL4	MAP3K7	FLNA
HP_DELAYED_CLOSURE_OF_THE_ANTERIOR_FONTANELLE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_CLOSURE_OF_THE_ANTERIOR_FONTANELLE	SMC3	FAM111A	MMP2	RUNX2	FLNA	ZIC1	ASPA	NLRP3	SEC23A	IGF2	CTSK	ATP6V0A2	ATP6V1A	H19	ATP6V1E1	MED12	PEX14	ADAMTS2	BANF1	ANKRD11	RPS6KA3	PEX19	POLR3A	AMER1	TBCE	ATP7A
HP_FRECKLING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRECKLING	UVSSA	TP63	XPA	TYR	ERCC6	NF1	PRKAR1A	TYRP1	PPP1CB	DDB2	GPR143	BRAF	CDK4	HPS1	SOX18	ERCC3	MC1R	ABCB6	NBN	SPRED1	MGMT	MLH1	ERCC8	POFUT1	CDKN2B	CDH3	CDKN2A	POT1	PTPN11	BAP1	MITF	ERCC5	RAF1	OCA2	ERCC4	ERCC2	TERF2IP	ACD	MAP3K7	KRT5	KAT6A	AP3D1	PSENEN	XPC	TERT	POGLUT1	MSH6
HP_SUBCUTANEOUS_NODULE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBCUTANEOUS_NODULE	IL12A-AS1	SEC23B	COL5A1	IL12A	FGFR1	HLA-B	LEMD3	INSR	BRAF	ENPP1	ASAH1	TNFRSF11B	TLR4	IARS2	BTNL2	IL10	TSC2	IDH1	ANTXR2	COL5A2	HMGA2	CYLD	FBN1	FERMT3	COL1A1	MMP2	MC1R	ERAP1	PTPN11	APC	MDM2	DDIT3	CDK4	COL3A1	PTEN	TSC1	NOTCH3	KLLN	TEK	MLX	IL12B	STAT4	UBAC2	ECM1	PDGFB	SDHD	KRAS	ABCC6	PDGFRB	IFNGR1	MEFV	FUS	PTH1R	SDHC	TNFRSF11A	GNAS	C4A	NRAS	FGFR2	SALL1	APOE	KIF11	KLRC4	PIK3CA	CCR1	MYSM1	CTNNB1	RAF1	DACT1	MMP14	IFNG	IDH2	IL23R	SDHB	GLA	ACVR1	AKT1	COL7A1	NAGA	FAS	HLA-DRB1	PORCN	USF3	OCRL
HP_BILATERAL_PTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_PTOSIS	MAF	ABCC8	ADNP	PACS1	LAMB2	RAD21	PDX1	PLEC	AEBP1	STAT3	NOVA2	NRAS	INS	TBC1D24	CLCN3	SCO2	SURF1	NGLY1	TUBB3	RYR1	RRM2B	SOS1	PHOX2A	DBH	ZFHX4	KDM1A	ACBD5	GSN	LRP12	DGUOK	KIF21A	PAX6	OPA1	COL2A1	PAH	ODC1	TK2	ZNF407	RNASEH1	NDUFS2	GCK	SETD5	NDUFB8	AUTS2	DNM1L	COL25A1	KCNH1	STAC3	WT1	COLQ	CERT1	KCNJ11	NDUFAF3	IGF1	ATP6V1B2
HP_CONGENITAL_FIBROSIS_OF_EXTRAOCULAR_MUSCLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_FIBROSIS_OF_EXTRAOCULAR_MUSCLES	KIF21A	PHOX2A	TUBB3	ZFHX4	COL25A1	TUBB2B
HP_FALCIFORM_RETINAL_FOLD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FALCIFORM_RETINAL_FOLD	LRP5	ZNF408	FZD4	NDP	CTNNB1	TSPAN12
HP_CARPAL_BONE_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARPAL_BONE_HYPOPLASIA	NANS	TRPV4	KIF22	EXOC6B	GNPTAB	DYM	RBM8A	COMP	SALL4	EIF2AK3	RSPRY1	ALDH18A1
HP_BROAD_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_FINGER	FGF9	NTNG2	ZMIZ1	EED	FLNB	TRMT1	TBCK	ROR2	NEUROD2	GPC3	KDM4B	RBM8A	INPPL1	SUMF1	SCN2A	EZH2	PSMD12	MED13	XYLT1	DOCK3	MEGF8	MED27	FGFR2	CLCN3	SATB2	TTC26	GPC4	WDR19	CDKL5	PTEN	TWIST1	NHS	KCNH1	BMP2	ACTL6B	TNRC6B	SUZ12	CREBBP	EMC10	DPYSL5	DVL3	HPGD	GNAO1	TANC2	CHST3	PTPN23	TRIP12	PACS1	USP9X	DDX6	BCAS3	GLI3	MADD	MAPK8IP3	COL10A1	PIGQ	KCNMA1	GNAS	PALS1	GDF5	B3GALT6	NPR2	KNSTRN	FBXW11	WDFY3	ACTL6A	ACAN	BPTF	SMOC1	ARX	TCF20	NEPRO	SETD5	SMO	MED12	FLNA	KCNA1	NSUN2	RAB23	DACT1	MEIS2	BCORL1	NXN	RLIM	HOXD13	FGFR1	CCDC32	MYT1L	HS2ST1	ANKRD17	GJA8	RTL1	TRIM8	SRCAP	ADNP	NOG	FGFR3	ADAMTS10	G6PC3	PRKD1	SATB1	COL2A1	SMARCA2	SLC12A2	ZNF141	HTT	UBR7	KMT2E	LIG4	B3GAT3	KIF22	BICRA	GRIA4	HPDL	SNIP1	MEG3	PUF60	SIK1	LMBRD2	PRKG2	GRM7	GATA4	TCF7L2	PNKP	PUS7	IFT122	DMXL2	BMPR1A	SIAH1	SVBP	SYNCRIP	CASK	SCN1B	DVL1	EP300	AGO2	SALL1	PIK3CD	FBN1	RNF2	WASF1	NTNG1	GJA5	ALX4	SPTBN1	MAP3K7	CNOT3	DLK1	NSD1	TBX5	HUWE1	IFIH1	MSX2	PIGP	KAT8	SETD1A	OTUD6B	EXTL3	WNT5A	TRAPPC4	SLC25A22	RPS6KA3	RNU4ATAC	JARID2	AMMECR1	PYCR2	EXOSC2	GATAD2B
HP_FAILURE_TO_THRIVE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FAILURE_TO_THRIVE	UNC80	LHX4	RTEL1	TIMMDC1	FCGR2A	RTTN	NDN	PDX1	SUGCT	RIPK1	GATA6	POLA1	MGAT2	TXNRD2	DPM2	STT3A	JAK3	FAH	SKIV2L	TCIRG1	RYR1	YARS2	SNRPN	CTNS	PEX3	MMADHC	COL6A2	TGIF1	PIEZO2	PNP	EIF4H	TCF3	FAM149B1	UNC45A	NDUFA10	MTHFR	KRT6B	SUCLA2	TTC26	RBM10	GTPBP2	FH	GCK	TWNK	IGHMBP2	SCNN1A	HSD3B2	TRAC	CDON	CD3D	MT-ATP6	PYGL	SLC39A13	AGPS	FGFR1	RNF13	EVC2	CASK	MT-CO1	MARS1	MT-ND1	STRADA	STT3B	POLG	PRF1	ATP6V0A4	ADK	LMNA	NDUFAF3	TERT	SERAC1	PEX5	ACADS	GLYCTK	TGM1	SC5D	PLAGL1	CASP8	RNU7-1	SMC3	TBX4	SLC25A13	ARV1	CIITA	SDHD	TIMM50	HYMAI	MTR	HSD3B7	CYP17A1	SLC5A1	LRRC8A	GMNN	B4GALT7	IGHM	PUS3	NDUFS8	CENPT	CPLX1	SLC46A1	SDHC	POLR1D	ATP6V1A	NALCN	ATP1A2	SLC25A3	STIL	MT-TF	KMT2C	GALC	CLCN3	NEUROG3	PEX6	PET100	TKFC	ATP1A3	SIX3	SPTBN1	JAK1	HRAS	KARS1	PLP1	DYNC2LI1	LAMB3	TJP2	COL6A3	NDUFAF1	MMACHC	MTRR	GALM	SMOC1	NDUFB10	IL1RN	CD96	FLNA	PTCH1	PEX12	COPB2	UBA5	WNT2B	MAGEL2	KCNA1	ZIC2	POLG2	MRPL12	ZSWIM6	JAG1	DEGS1	CSPP1	GTPBP3	DISP1	MT-TL1	GNB1	METTL27	RNU4ATAC	NPAP1	AKT1	DHCR7	GABRB2	CREBBP	PTRH2	CLCNKA	STAMBP	AKR1D1	DYRK1A	FTO	HBB	PEX16	USF3	FIG4	OCA2	SP110	DHDDS	ETHE1	ADAT3	GATM	KDM6A	RAD21	PLAA	CHRM3	NDUFV2	AUH	SLC12A1	PEX11B	INSR	NR0B1	NDUFA13	LEMD3	MIPEP	NDUFA4	NDUFAF4	ELN	IL21	NR1H4	TBX1	GBE1	SLC1A2	PDHX	COL4A6	FAM111A	KCNA2	NGLY1	ARFGEF2	GALE	FARSB	LBR	AARS1	NUP214	OFD1	COG8	NLRC4	UBE3B	CYP24A1	PEX26	NDUFS7	NDUFAF2	FKBP6	PIGB	BRD4	FGF8	POMP	MS4A1	PCCB	IL2RB	SRP54	DOCK6	ACTL6B	MT-TK	EGFR	HIBCH	ICOS	RAI1	TGDS	ATP8B1	GAS1	ERCC6	KRT14	ITCH	KLLN	BUD23	ABCB11	PTPN22	NDUFA12	PMM2	ALG6	DNAJC30	MBTPS2	ATP6AP1	PUS1	TCN2	ELAC2	PNKP	DLL1	HSD11B2	RAG1	NLRP1	CYP11A1	PEX14	SELENON	ABCA12	SIL1	SCNN1G	SCN1B	VPS37D	POC1A	AASS	DCLRE1C	IFNG	DEAF1	ERBB3	EP300	SFTPC	RARB	GABRA5	FDFT1	SLC25A21	HACD1	TCF4	CBS	NNT	OSGEP	MMAB	DNAJC21	ERCC8	SLC1A3	SALL1	AVPR2	SNORD115-1	ADA	MT-ND6	DLL4	CNKSR2	SCNN1B	PARS2	MECP2	ANTXR2	PGAP1	MBL2	NFU1	PEX13	IL2RG	PIK3CA	ZNFX1	NECAP1	CYB5A	PSAT1	CLTC	YARS1	ECHS1	ORC6	PRKCD	NDUFB11	LIG4	COG4	ABCD1	ACVR1	ACTB	IARS1	COX4I1	SLC19A3	COX15	PYCR2	OCRL	ORC1	PIGG	EFL1	NDUFB3	TTN	DYNC2I1	SPATA5	TPM2	HDAC8	ORC4	BSND	PEX1	TRIT1	CD19	TSHB	IKBKB	LYRM4	ASAH1	CTCF	SCO2	TRAK1	FOXRED1	CTBP1	STAG2	BMPR1A	SMARCAL1	DDOST	LAMA3	PSAP	ACTG1	RAC2	UBR1	UMPS	PNPO	MT-TW	NUP62	FGD1	TMEM216	ALG12	PEX7	PRKCZ	PTPRC	VPS51	SLC16A2	RELB	SUCLG1	HIKESHI	ALDOB	CDKL5	ACTA1	GABRA2	ARPC1B	KRT6A	RAG2	DGAT1	TNPO2	CD247	NEXMIF	GLI2	SMPD1	TNFSF12	ALPL	HPDL	VDR	UFD1	MCCC2	EN1	PARN	DOLK	TACO1	RAB3GAP1	BRAF	EDN3	ABCC8	XPA	HLA-DQA1	PACS1	SLC12A3	SLC37A4	HIRA	CYP11B2	KCNAB2	AP1B1	ALOXE3	PIGQ	VIPAS39	AGPAT2	COG1	HCN1	LIPA	FDXR	PTPN2	MC2R	PSMB4	VPS37A	ARX	MT-CO3	NKX2-1	CPLANE1	SETBP1	PDPN	SHH	TDGF1	PHKA2	GJB2	NOTCH1	NDUFB8	GGPS1	TMEM126B	MYL2	NDUFS1	ERCC4	SEC24C	ZFP57	TLL1	CDC45	XPC	GRIA4	CD79A	CD79B	NODAL	MYH3	AFF3	TGFB1	ALG3	HSPG2	DPYD	SNX10	SYNGAP1	NDUFS3	G6PC3	MED17	ZAP70	NIPBL	RFXAP	DDB2	CD3G	SPEN	NFKB2	MPI	KIAA0586	MAP2K1	CELF2	USP7	NAGS	MEGF10	BPTF	B3GALT6	COA8	GRM7	KMT2A	RASGRP1	MT-TS2	RBCK1	NDUFS4	OCLN	ASCL1	CAV1	PHGDH	MRPS14	TALDO1	PSMB9	MPDU1	OTULIN	DGUOK	HBA2	CHD7	KIF7	RFXANK	IL2RA	BAZ1B	ATM	FMR1	ADH5	RFT1	RNF2	GABRG2	ACSF3	EPRS1	JAGN1	RET	EBP	NOTCH2	TCTN3	MAP3K7	CD81	AQP2	ERMARD	MT-ND5	EPCAM	EDNRB	MRAP	RMRP	MT-TV	ARID1B	ELMO2	ENPP1	CLMP	ATP6V0A2	ATP5F1A	NDUFS2	TRAPPC2	FOS	PCGF2	ERBB2	LTC4S	PDE6D	DKC1	ATP7B	HERC2	MMUT	FANCF	PTEN	TAOK1	PEX10	PEX2	ERCC3	STRA6	MT-ND4	NDUFA11	SIN3A	AARS2	ASXL3	SLC35A2	FGF13	SLC35C1	SEC31A	TINF2	TPM3	NDUFA8	HLA-DQB1	SLC25A15	SREBF1	ALG11	NDUFA6	TK2	CSF2RA	TTC37	NIPAL4	SON	IL7R	EARS2	EPG5	GPIHBP1	NDUFAF5	FUCA1	ERCC2	SEMA3C	RREB1	IQSEC2	SLC7A7	CLIP2	COX4I2	ADAM17	GTF2IRD1	GJB6	OTUD6B	IGF1	NUBPL	COG7	DALRD3	CYP7B1	TGFB3	LCK	COMT	MPV17	SFTPB	CDC6	FLCN	POLR3K	LPIN2	DPM1	COL6A1	KCNJ6	MT-ND3	PREPL	INS	NDUFV1	GTF2I	SCN2A	NFE2L2	AK2	NCF1	GPT2	LMNB1	SCN3A	KRT5	ALDH18A1	NTRK2	AHDC1	NELFA	MED12	PSMB10	POLR1C	SZT2	TRIO	AMER1	HCCS	SYT2	COX5A	LETM1	TAFAZZIN	GALK1	MT-TH	ZMPSTE24	MTRFR	MCCC1	NDUFS6	KANSL1	FOXH1	SURF1	POMC	NFIX	CLCNKB	NADK2	NACC1	YWHAG	ALOX12B	HPD	GNAO1	PHKG2	CAVIN1	SLC25A24	TFRC	LRPPRC	ITGA7	CA2	KIF1B	FUT8	SBDS	ARHGAP31	DLD	ALAD	ZEB2	STAT4	BCL7B	GCDH	NRTN	CACNA1A	KCNB1	SLC3A1	NDP	MYOD1	LYRM7	RIT1	BRCA1	SYNJ1	MDH2	ABL1	MKRN3	MYH7	WDR26	TASP1	SLC26A3	SLC17A5	TOPORS	SLC25A4	PPM1B	MT-CO2	PCSK1	PRDM16	OTC	TRMT5	GDNF	MAP3K20	VPS53	TRMT10C	ATXN7	IGLL1	NSD2	BRF1	GRIN2D	EHMT1	TBL1XR1	ALG9	HADH	LRBA	SMC1A	HBA1	SLC22A5	MRPL3	HADHB	VPS33B	ASXL1	RERE	POLR2A	DNM1L	EEF1A2	RECQL4	RFC2	MICOS13	NDUFA9	SMARCD2	SMO	TMPRSS15	PRDX1	BICRA	SLC2A2	KIAA0753	SLC39A4	BMP4	KCNJ1	CR2	ERCC5	RFX5	SMARCC2	RPS19	FOXP1	IGF2	VPS13B	CYP2R1	SIK1	EXOSC8	FOXP3	TCOF1	NFASC	CFTR	MRPS28	SPINK5	DMXL2	CYFIP2	FLII	SLC34A3	HNRNPH2	TFAM	CDT1	SMARCA2	AHCY	RRM2B	PCCA	SLC13A5	MMAA	PPP1CB	DNM1	MKKS	COG6	DHCR24	PDHA1	PTF1A	SMAD4	EXOSC9	CHRNG	MTTP	COX7B	PEX19	BTK	PNPLA1	SKI	BSCL2	ANKRD55	PYCR1	PSMD12	NDUFA2	CSF2RB	ERCC1	AMACR	AIMP1	WDR11	GP1BB	BCS1L	SNORD116-1	MCM4	AMN	AP3B2	C2orf69	CIT	SAR1B	EOGT	MLXIPL	NDUFA1	STING1	NDUFB9	ASL	SOX9	NEUROD2	STAT3	ALG8	MCTP2	MCEE	ABCC6	MT-CYB	PRPS1	RARS2	HADHA	LIMK1	TNFRSF13B	BLNK	CAMKMT	STAR	GNPTAB	ABCA3	PSMB8	SLC51A	HMGA2	VAC14	PGM3	KAT6B	HSD17B4	SPOP	NUS1	CHRNA3	CD40LG	UBE4B	EXOC6B	SCN8A	ARCN1	ARVCF	PPARG	GLI1	CUL3	BRCA2	NDUFAF8	NHLRC2	KCNJ11	CASR	DSP	IDH1	CDK19	DPAGT1	ZNF699	MT-ND2	BCAP31	MRPS2	SGO1	NSMCE3	NONO	GAA	TWIST2	SARS2	CARS2	CD3E	NFKB1	SHOC2	GNPAT	RPL5	LAMC2	SLC4A1	FBN1	ST3GAL5	MYMK	GPR161	MMP23B	ECE1	POLR3A	KIF15	PROKR2	COL7A1	H19	EVC	PMPCB	TMEM165	CACNA1B	GNB2	DACT1	ACD	COL12A1	PNPT1	PTDSS1	ACAD9	ASS1	TBL2	PEPD	LARS1	ZIC3	PWAR1	DYM	SLC34A1	ROBO1	CARMIL2	ASNS	SEMA3D	WWOX	SEC23B	PIK3R1	TRIM8	MVK	FGFRL1	ACO2	NDUFAF6	CYP27B1	FBXL4	STAG1	HCFC1	KRT17	LMBRD1	TMEM270	VPS45	SDHA	NCAPG2	SCO1	ATP7A	SSR4	PPP3CA	KDM5C	SIM1	GYS2	STX1A	LIPT1	CERS3	ORAI1	ADAR	MTFMT	AGXT	COL4A5	KRAS	CASZ1	CUBN	POLR1B	TOM1	TMEM70	KRT16	MT-TN	GBA	JMJD1C	UFC1	NR3C2	GTF2IRD2	CLDN16	GALT	SH2B1	MSMO1	PTPN11	SNAP29	SLC10A2	TNFRSF13C	SLC6A8	IL21R	FGF12	ATP6V1E1	KMT2D	SLC39A8	LAT	LUZP1	BANF1	HESX1	PWRN1	CA12	SH3TC2	MAP2K2	TBR1	PKP1	IPO8	AGTPBP1	GJA1	CSNK2A1	CARS1	STAT5B	GABRD	SDHB	COX10	EIF5A	PIGP	DNMT3B	RBPJ	WDR4	SLC25A22	ATPAF2	MTO1	CPS1	ACOX1	MT-TQ	MRPS7	PHOX2B
HP_INTRAUTERINE_GROWTH_RETARDATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRAUTERINE_GROWTH_RETARDATION	RERE	NDE1	ELN	SMAD4	DKC1	COMT	UNC80	KLF11	CITED2	PDX1	TBCE	RTEL1	ALX4	CDC6	ALDH18A1	PLXND1	CDKN1C	RTTN	TMEM216	UQCRFS1	SKIV2L	DLK1	RAD51	RB1	GATA6	CKAP2L	ACD	NKX2-5	INS	NDUFV1	FANCC	NKX2-6	PIEZO2	MT-ND3	YY1	TOR1A	NELFA	ERCC3	FANCF	CTU2	KATNB1	ERCC4	MPLKIP	FANCD2	ERCC2	PAH	RBM10	MYORG	ALG1	FBLN5	LETM1	GCK	GATA4	IGHMBP2	CLCN7	NODAL	WDR4	NDUFS6	BRIP1	TPRKB	KANSL1	GNAS	CHRNG	DNAJC19	SMARCA4	CTC1	MTHFR	EVC2	BRPF1	FAM111A	NDUFAF1	OBSL1	GTF2E2	ESCO2	DEF6	STT3B	MADD	CRKL	FANCL	LTBP1	NDUFAF3	TBX6	TERT	NDUFS1	ATP7A	ACADS	SC5D	PLAGL1	SLC20A2	RNU7-1	SMC3	TBX4	PLAG1	TSFM	PLK4	PHGDH	TUBGCP4	SLC25A24	MBTPS2	HYMAI	SMC1A	NALCN	FUT8	COQ9	ERCC1	SMARCB1	MEG3	SMARCAL1	NEUROD1	NDUFS8	CPLX1	ZNF335	BUB1B	ATP6V1A	MAD2L2	FANCA	WDR73	COG4	MYH3	PTCH1	TTC7A	IBA57	ARID1A	FANCB	SPTBN1	NDUFS2	DSP	DYNC2LI1	ITPA	ABL1	MMACHC	SIX3	TRAPPC11	NDUFB10	WNT4	NIPBL	CDON	PSAT1	TTC37	SOX11	GPKOW	UQCC2	PDE4D	HDAC6	RTL1	TARS1	POLA1	TONSL	TELO2	BLK	ARID1B	CHD7	PTCD3	RAB18	SMARCE1	SEMA5A	TIMMDC1	RNU4ATAC	DHCR7	NSD2	FLT4	CEP57	DYRK1A	DISP1	NOS3	ARL6IP6	FANCI	FTO	HADH	ZPR1	DHDDS	PDGFRB	CENPJ	FGFR1	EFEMP2	ADAT3	ASXL1	GFM2	RAD21	INSR	GLI3	LEMD3	NDUFAF4	RAB3GAP1	USB1	CNOT1	TBX1	GMNN	ERCC8	RECQL4	FARSB	SMARCA2	ZMPSTE24	LIG4	ERCC5	CORIN	RIPPLY2	ZIC2	NDUFS7	DOK7	BRD4	SMPD4	HMGA2	RNF113A	ADGRG6	FLT1	ATR	TGIF1	SMARCD1	PEX5	GLIS3	PIK3R1	OTUD5	RPS19	IGF2	SON	VPS13B	EPB41L1	ERCC6	EMG1	BLM	TGDS	CTBP1	GATA5	FOXH1	TERC	PI4KA	PCDH12	RAD51C	CDK10	FANCE	TFAP2A	TRAIP	CHRND	PCNT	MRPS28	DLL3	HSD11B2	FLI1	GDF1	GFM1	FLVCR2	TFAM	CDT1	LAGE3	PLOD3	RHAG	DBR1	FKTN	RHD	EP300	RARB	TAPT1	FDFT1	CCNQ	IGF1R	NUP88	COG6	GBA	KCNJ11	HHAT	OSGEP	COG5	CCDC8	DHCR24	BUB1	PDHA1	SLC26A2	LRRC32	EXOSC9	GLI2	TRIP13	IARS1	ADGRG1	KIF2A	B3GLCT	MESD	PYCR1	SATB1	SHH	TUFM	ATP6V0A2	SDHAF1	TAF1	PDE6D	CHRNA1	ORC6	BRCA2	XRCC2	PRKDC	SDHD	AFF2	WNT7A	OTUD6B	GP1BB	TINF2	MCM4	PDSS2	LARS2	BRCA1	MYOD1	CEL	GATAD2B	CANT1	ORC1	PIGG	NDUFB3	GAS1	NDUFA1	YIF1B	DONSON	SLC25A13	HDAC8	NDUFB9	ORC4	MLXIPL	FLNB	NDUFAF5	ARID2	RIPK4	STAT3	ABCC8	ALG8	XRCC4	SNRPN	MCTP2	RNASEH2A	BRAF	SRPX2	FIG4	PRPS1	FOXRED1	CTSK	CEP152	HNF4A	SDHA	PAX4	PDGFB	GLB1	PRKAR1A	UBR1	NUP188	QRSL1	PUF60	XYLT1	ALG12	HBB	CENPE	TOP3A	RAPSN	FAM20C	SUCLG1	WARS2	CTDP1	COX16	STN1	SEMA3E	MESP2	ARCN1	ARVCF	KDR	LMNA	KIF14	SCUBE3	GLI1	NDUFA10	NDUFAF2	CREBBP	HOXD13	NDUFAF8	KAT6A	UFD1	IDH1	PARN	NUP107	ZNF699	MT-ND2	TMEM70	RFX6	SLC35A2	KIF5C	USP9X	SOX4	VANGL2	HIRA	JAG1	PALB2	PPP1R15B	SMARCC2	NPM1	SAMD9	SF3B4	CEP290	HYLS1	XPR1	TBC1D20	COG1	FANCG	LFNG	STOX1	POLR3A	NIN	NF1	CUL7	H19	GTF2H5	EVC	TMEM126B	COQ2	SUFU	NSUN2	RAF1	APPL1	MAPK1	MCM5	HNF1A	PNPT1	MKS1	MUSK	NDUFA6	SEC24C	LONP1	PTDSS1	ZFP57	BUB3	BCS1L	NDUFB11	NHP2	SNRPB	NSDHL	TRIM37	CDC45	RBBP8	GINS1	IGF1	FBN1	TIMM22	TUBGCP6	RFWD3	FANCM	LIFR	FGFRL1	FGF8	SIX2	MTRR	GATB	NDUFS3	KDM6A	PKLR	NUP85	STAG1	COX6B1	POLE	MRPS25	NEK9	NCAPG2	SDHB	RAB3GAP2	KMT2A	DPF2	PET100	TDGF1	LMBRD1	NDUFS4	SCO1	ATRIP	SLX4	TP53RK	NUP133	TALDO1	RPL10	DNAJC21	PTPN11	GATC	AARS1	SFXN4	FMR1	RNF2	DNMT3A	CDCA7	TCTN3	SEC24D	NUS1	SLC18A3	P4HB	SIN3A	ZFPM2	JMJD1C	ATP5F1A	B3GALT6	SEC61A1	BCR	PCGF2	COQ4	NOP10	ABCB7	UBE2T	NBN	BCAP31	RHCE	PSPH	PDHB	STRA6	ATP6V1E1	HES7	TRMT10A	NDUFA11	ASXL3	JUP	COQ7	RELN	SLC35C1	BMPER	SEC31A	ZMYM2	GJA5	CTNND2	NDUFV2	CARS1	WRAP53	IFIH1	RPL11	MT-ND1	DLL1	LEMD2	COG7	EIF5A	RREB1	DDX11	JAM2	PEX2	WASHC5	GTPBP3	NFIX	NUBPL	CWC27
HP_SMALL_FOR_GESTATIONAL_AGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_FOR_GESTATIONAL_AGE	FAM111A	SMAD4	YIPF5	FLCN	UQCRFS1	GATA1	CLCN4	SKIV2L	PDHA1	KANSL1	ALG8	MCTP2	FIG4	SNRPN	CTCF	ZNF41	CTBP1	SMARCAL1	GDI1	FTSJ1	PLAG1	NSF	YY1	IGF2	THRB	HADHA	RPL18	NUP188	RPS17	RPS7	PRKAR1A	NR1H4	PUF60	RPS6KA3	TRMT1	RPS28	SLC16A2	GALK1	IGHMBP2	RPL35	NECTIN1	OBSL1	DNM2	ALB	RPL5	SLC9A7	EIF2S3	KCNJ11	DEF6	ACADVL	RNU4ATAC	MAMLD1	HUWE1	CNKSR2	RPS27	ERCC2	CNOT1	FANCE	FANCA	ZNF699	CDKN1C	PLAGL1	SLC25A24	ORC1	LRP5	EMG1	NSMCE3	HYMAI	ABCC8	FZD4	TBL1XR1	FANCC	IRF6	GMNN	SBDS	CRIPT	MEG3	POR	PPP1R15B	RPS20	ZNF335	DMD	ARHGEF6	HNF1A	WDR73	COL1A1	RPL27	IQSEC2	FBN1	KARS1	STOX1	ACSL4	CNTN1	RPL35A	RPS10	SRP54	SYP	RPS26	CUL7	TTC37	MAGEL2	DYRK1A	H19	OCA2	ALG12	ZNF711	AUTS2	TONSL	TSPAN7	PTCD3	RPS15A	PTF1A	GRIN2A	UBR1	DALRD3	MED12	MUSK	LONP1	DLK1	GATA6	NSD2	ZFP57	INS	TAF13	STAMBP	USP9X	TIMM22	MYH3	RTL1	HSD11B2	RPL15	IL1RAPL1	MBTPS1	HADHB	CPLX1	FGFRL1	SIX2	SLC12A1	NPHS1	THOC2	GK	ABCB4	FBXL4	NSUN2	TSHR	VPS13B	PNPLA6	ACTB	RECQL4	NGLY1	FARSB	NDN	PET100	PTS	RBBP8	ASCL1	DLG3	CORIN	PIK3C2A	BUB1B	TALDO1	PAM16	MID2	HMGA2	KCNJ1	FLT1	FANCD2	SRCAP	PIK3R1	OTUD5	CLCNKB	B4GALT1	RPL11	ERCC6	BLM	FRMPD4	ARX	ANAPC1	ALG13	RAB39B	EPCAM	GTF2E2	RPL26	TMEM70	STEEP1	TRAIP	SIN3A	SHROOM4	AR	RPS24	SYNE1	INSR	CCDC8	CLTCL1	ABCB11	AGTR2	POC1A	CYB5R3	TAPT1	LETM1	GCK	ADA2	PPP2R3C	CCNQ	RPS19	MRPS16	TRMT10A	COX20	PQBP1	RET	DNAJC21	COL1A2	UPF3B	KIF22	COQ7	SLC35C1	TBR1	BSND	TP63	RPL31	ATP8B1	PTCHD1	CARS1	RPS29	CREB3L1	SPR	USP27X	TSR2	CEP57	ZNF81	UQCRC2	CYB5A	PAK3	MECP2	MTO1	IGF1	MSX1	HCFC1	COG7	CLCNKA	PHOX2B	NDP
HP_DISPROPORTIONATE_TALL_STATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISPROPORTIONATE_TALL_STATURE	PIGG	PLOD1	NTNG2	SRCAP	ZMIZ1	TRMT1	SATB1	KDM4B	SLC12A2	PSMD12	MED13	DOCK3	FBN2	MED27	CLCN3	HTT	NELFA	UBR7	KMT2E	LETM1	COL2A1	GRIA4	LOX	HPDL	DLG4	LARS2	ZNF469	NSD2	CHST14	MAN2B1	ACTL6B	FKBP14	TNRC6B	COL1A2	CBS	CTBP1	MYT1L	ATP6V1A	EMC10	LMBRD2	DPYSL5	SMAD3	TCF7L2	TANC2	PUS7	PTPN23	TRIP12	HPGD	SVBP	DDX6	SYNCRIP	BCAS3	CPLX1	MADD	MAPK8IP3	KCNMA1	PALS1	NKAP	AGO2	ATP6V1E1	TGFBR1	DSE	ASXL3	FBXW11	WDFY3	RNF2	WASF1	ACTL6A	PTEN	BPTF	FBN1	MED12	NTNG1	TCF20	HERC1	SPTBN1	POR	ZDHHC9	CNOT3	SMS	HUWE1	MFAP5	BCORL1	RLIM	UPF3B	KAT8	SETD1A	TGFBR2	TRAPPC4	CCDC32	RET	AKT1	JARID2	HS2ST1	ANKRD17
HP_LARGE_FOR_GESTATIONAL_AGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_FOR_GESTATIONAL_AGE	RTL1	ABCC8	KLF11	BIN1	DNM2	PIGL	KCNJ11	NEUROD1	MTOR	SHOC2	INS	HNF1A	MEG3	KMT2C	PTCH1	RIT1	PIGT	FIBP	EDNRB	HNF4A	PAX4	SOS1	BRAF	HERC1	RNF135	PIGN	ODC1	PIGA	UCP2	IFT74	GCK	DLK1	BLK	AKT2	APPL1	MYF6	PDX1	RAF1	SUFU	ABCC9	MTMR14	DIS3L2	TMCO1	EHMT1	RYR1	ANK3	CEL	GLI3
HP_DEATH_IN_INFANCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEATH_IN_INFANCY	NAXE	LHX4	SFTPB	VPS35L	TSPYL1	MYL2	MYH11	BOLA3	PEX3	HSPG2	KIF20A	ROR2	NSF	PLEC	TOR1A	ABCA3	UBR1	QRSL1	LMOD1	COX5A	COASY	ERCC2	PSAP	ALG1	BMPR1B	SUCLG1	COX16	IDUA	MLH1	NEB	DNM2	NADSYN1	ALPL	NADK2	MYL1	DPM2	SLC25A24	TMEM70	LAMA3	ERCC1	FREM2	TSEN54	ACADVL	CRLF1	PEX16	WASHC5	PEX6	LIPA	OCRL	PEX19	FANCB	CDON	CNTN1	ITPA	GPR161	SMOC1	PRPS1	PROKR2	HDAC6	RMND1	SLC25A46	PEX12	EPCAM	SUOX	ERCC6	SCYL2	NAXD	AMT	PMS2	MYO5B	ACTG2	NXN	ANTXR2	LAMB3	PIK3CA	LAMC2	SNRPB	GLDC	WT1	ROBO1	GCSH	SCO2	EPG5	GPC3	AFF3	PEX1	VPS33B	DNM1L	PEX11B	MESP2	SCN4A	MLH3	SIK1	NR1H4	DOLK	POMT2	TGFBR2	LIPT1	PQBP1	GRM7	PEX10	PEX13	PET100	ITGA6	FRAS1	SMARCD2	ASCL1	STAT2	TRIP11	MSH2	PEX5	KRAS	PEX26	PMS1	PIGB	SMPD4	DLL3	NDUFS4	LMNA	GATC	CDC40	KLHL40	SMO	EMG1	HTRA2	MYLK	DCX	ERCC5	GLB1	NFS1	REV3L	CRTAP	ATP6AP1	BRAT1	CD96	CLCF1	FLI1	PEX14	NRAS	KRT5	CCDC22	MADD	LTC4S	SLC25A19	TFAM	MSH6	ATRX	FXR1	NDUFAF3	MRPS22	LAT	PEX2	COG6	HESX1	STX3	AARS2	RET	ASXL3	RPL3L	ARX	FAN1	PTF1A	GPC4	TMEM260	PIGA	ZNFX1	SLC26A2	PPIL1	GDF5	TUFM	AIMP1	JPH2	ALG14	PLXND1	COX10	WDR11	GRIP1	GBA	POLG2	RBM8A	FARS2	ACOX1	ITGB4	C2orf69	NDUFA2	PHOX2B	TNFRSF11A
HP_SEVERE_FAILURE_TO_THRIVE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_FAILURE_TO_THRIVE	FIG4	ERCC6	PRPS1	ZFP57	PEX7	UNC80	ASXL1	NALCN	RTTN	ZMPSTE24	LMNA	INSR	HYMAI	BSND	CLCNKB	CLCNKA	VAC14
HP_HEMIHYPERTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMIHYPERTROPHY	RASA1	KCNQ1OT1	KRAS	IGF2	PIK3CA	AKT2	AKT1	H19	RNF125	NRAS	HNF1B	KCNQ1	CDKN1C	ZNF699	HRAS
HP_MILD_POSTNATAL_GROWTH_RETARDATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MILD_POSTNATAL_GROWTH_RETARDATION	CCBE1	CDAN1	FAT4	PTPN22	CD247	ANKRD55	IL2RA	PTRH2	ERCC6	STAT4	ERCC8	PRKAR1A	IL2RB	ADAMTS3	IGFALS	PTPN2
HP_FAILURE_TO_THRIVE_IN_INFANCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FAILURE_TO_THRIVE_IN_INFANCY	MLXIPL	TGFB3	SLC25A13	MVK	RAI1	NDN	POLA1	BRAF	CD19	DYRK1A	ELN	HBB	NFKB2	FIG4	MAP2K1	TMEM270	GTF2I	SNRPN	ABCC6	NCF1	BPTF	RECQL4	RFC2	HADHA	LIMK1	TNFRSF13B	EIF4H	COG8	RAC2	PSMB10	ATP7A	SMO	MCCC2	COG4	COX5A	FKBP6	SCNN1A	HADHB	NDUFA4	STX1A	SLC16A2	OTULIN	MS4A1	SPOP	CR2	JAK3	MCCC1	IL2RA	BAZ1B	SCNN1G	ICOS	SON	VPS13B	KRAS	RET	ITCH	TNFSF12	MAGEL2	CD81	BUD23	TOM1	HPDL	EDNRB	FOXP1	DNAJC30	ENPP1	FOXP3	EDN3	NSMCE3	CD96	GTF2IRD2	FLII	ERBB2	LTC4S	PUS3	NFKB1	VPS37D	HERC2	DEAF1	PTPN11	UNC80	ERBB3	TNFRSF13C	FDFT1	BCL7B	NRTN	SLC39A8	HRAS	PYGL	COG1	MYOD1	TKFC	PWRN1	SLC35A2	MAP2K2	MKRN3	ECE1	SNORD115-1	CTNS	IL1RN	KIF15	FGFR1	SREBF1	SCNN1B	SETBP1	COPB2	TK2	CSF2RA	PSAT1	PSMD12	CARS1	CSF2RB	ERCC1	YARS1	GDNF	PRKCD	SEMA3C	METTL27	IQSEC2	ABCD1	TBL2	CLIP2	NPAP1	SNORD116-1	GTF2IRD1	PWAR1	SP110	SEMA3D
HP_SLENDER_BUILD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLENDER_BUILD	POLG	NONO	HERC1	ACTA1	UPF3B	NEB	TIMM50	FBN2	MED12	KLHL41	DNA2	KANSL1	GRIA3	COL6A1	SARS1	STRADA	TUBB4A	NSDHL	WRN	COL6A2	FARSB	TPM3	TYMP	TGFB1	COL6A3	MYPN	TPM2	KBTBD13	POLR3A
HP_PROTUBERANT_ABDOMEN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROTUBERANT_ABDOMEN	TRIP11	FLNB	COL2A1	RTL1	IFT122	COL11A1	GNE	SLC37A4	DLK1	SMARCAL1	MTOR	INPPL1	CYP27B1	MEG3	G6PC1	NKX3-2	SMPD1	IFT52	LIPA	KIAA0753	KAT6A	VDR	COL11A2	CYP2R1	LBR	FBN1	DYM	GNPTAB	SLC26A2	BMPER	PSMB8	GBA	PTH1R
HP_OMPHALOCELE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OMPHALOCELE	RTL1	GPC3	GAD1	LONP1	RIPK4	TWIST2	CDKN1C	NFIX	MYH11	CEP120	KCNQ1OT1	FOXF1	NEK9	DACT1	IGF2	SPECC1L	ISL1	DYNC2I2	COL11A2	FRAS1	AMER1	LMOD1	LRP2	FLNA	FGFR1	MEG3	RAB23	MTHFR	CHD7	TSHB	MYLK	HOXD13	MAMLD1	PAFAH1B1	LBR	HIC1	MBTPS2	DVL3	FREM1	SEMA3E	BHLHA9	MID1	CD96	AR	COL11A1	VANGL2	TTC7A	FREM2	THRA	DLK1	HYLS1	PPP2R3C	CHUK	TP63	ALG9	MMP2	KCNQ1	GPC4	DYNC2I1	FLNB	IFT81	MMP14	YWHAE	IFT80	ACTG2	MKS1	PORCN	DYNC2H1	NXN	GRIP1	PTCH1	PPP1R12A	PIGN	ZIC3	MASP1	WDR35
HP_DIASTASIS_RECTI	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIASTASIS_RECTI	RTL1	GPC4	EZH2	TBCK	COLEC10	MEG3	DLK1	COLEC11	IGF2	MTOR	B3GLCT	CDKN1C	GPC3	SPECC1L	PIGQ	H19	PORCN	PPP2R3C	ELMO2	CHST14	KCNQ1OT1	FOXF1	MASP1	SHPK	SOX6	KCNQ1	GNPTAB
HP_ASCITES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASCITES	FSHR	TNPO3	EOGT	SCARB2	RUNX1	MYBPC3	TMEM67	ALG8	ABCB4	FAH	LIPA	ASAH1	NR1H4	GBE1	LBR	ABCC6	GBA	PRKAR1A	KIF20A	DNASE1L3	FAT4	FAM111A	FARSB	SEMA4D	CD55	OSTM1	PIEZO1	TCF4	MMEL1	DZIP1L	ADAMTS3	TTC26	HSD17B4	SRSF2	TSC1	SPP1	MEFV	DGUOK	IRF5	SPIB	PRKAG2	HFE	DOCK6	EIF2AK3	IL12A	NEU1	USP18	SMPD1	PRKCSH	IRAK1	GALT	DEF6	JAK2	ENPP1	STAT4	RNU7-1	CD27	BMP2	EWSR1	IL12RB1	CBL	TFAM	ARHGAP31	ABCB11	PLVAP	ERCC4	CALR	GUSB	GPR35	BUB1B	TAPT1	MRPS22	NPC1	CCBE1	MST1	BUB1	TNFSF15	DLL4	SLC17A5	TSC2	TRIP13	SOX18	ATP8B1	NOTCH1	GNB2	PKHD1	ATP6AP2	RHBDF2	FLI1	WT1	EIF5A	BUB3	RBPJ	F5	DIS3L2	TET2	NPC2	WDR35	AGGF1	CEP57	ASXL1	TRIM37	ALG9	ARL6IP6	POU2AF1	DCDC2	GIMAP5	SP110
HP_PROMINENT_UMBILICUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_UMBILICUS	ZMPSTE24	LMNA	FGD1	CAVIN1	BSCL2	KAT6A	AGPAT2
HP_ANTERIORLY_PLACED_ANUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIORLY_PLACED_ANUS	CHD4	SLC25A24	RFX6	DISP1	GLI2	DCHS1	DLL1	RECQL4	FAT4	FREM1	HCCS	PIGO	POR	GLI3	ESCO2	COX7B	PIGV	CDON	C2CD3	MED12	NODAL	STIL	TDGF1	FGFR2	ATN1	DDX6	PIGW	SALL1	UBR1	SIX3	PGAP3	SHH	GAS1	SETBP1	DVL3	CDH11	FOXH1	PTCH1	ZIC2	DACT1	PGAP2	B3GLCT	PIGY	RRAS2	NDUFB11	PORCN	PIGL	PTDSS1	FGF8	SUZ12	TGIF1	ACADVL	CDK8	SNRPB	DDB1
HP_ABNORMAL_RIB_CAGE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RIB_CAGE_MORPHOLOGY	SMAD4	EXOC6B	PRKACB	BIN1	CDC6	DDRGK1	GATA6	XYLT1	BRAF	MGAT2	RRAS	GPC3	ABCC9	MAMLD1	RBM8A	RIT1	NKX3-2	CEP120	MYF5	HSPG2	ARSL	EBP	ROR2	IFT140	TOR1A	NELFA	RUNX2	AMER1	SIX3	MMP13	GPC4	INTU	COL2A1	LIFR	ODC1	LETM1	PTCH1	GNPTG	CANT1	DYNC2H1	IRF6	MYF6	EXT2	CHRNG	RRAS2	GDF6	DDR2	OBSL1	LBR	CHD7	SLC26A2	CILK1	TBX6	PTCH2	SEMA3E	CHST3	TBCK	CA2	PTPN11	NAGLU	SOX2	RECQL4	SBDS	MEOX1	CPLX1	WDR35	MRAS	RMRP	SKI	MYH3	KIAA0586	WNT7A	NODAL	FGFR3	STIL	HRAS	SGSH	ACAN	SLC34A3	IL1RN	DYNC2I1	NIPBL	FLNA	FUCA1	GPKOW	IFT81	MED12	POR	HDAC6	PRDM16	ZIC2	JAG1	CSPP1	NXN	DNAJC21	RNU4ATAC	COL1A2	NSD2	GNPTAB	TRIP11	GLE1	COL11A2	TGIF1	COL11A1	TMCO1	SNRPB	AKT1	IGF2	FIG4	ATP7A	ATP6V1B2	IKBKG	IDS	MESP2	DNM2	RTL1	CHRM3	RERE	GALNS	GLI3	KLHL41	TENT5A	FERMT1	C2CD3	GMNN	MAN2B1	FAM111A	KRAS	IFT172	TDGF1	INPPL1	ZMPSTE24	UBE3B	MGP	RIPPLY2	SPRED2	PAM16	SRP54	ATR	GDF3	RPS19	PTH1R	SON	TRPV4	PHEX	CYP2R1	CTBP1	WDR19	BCOR	BMPER	NFASC	CHRND	SLC34A1	DLL3	FLNB	EVC	NEB	FLI1	SNX10	PPIB	DISP1	MEG3	SOX9	LRP5	GUSB	TAPT1	LMX1B	IGF1R	PEX1	NOG	CCDC8	TBCE	TFE3	EIF2AK3	SALL1	WNT4	ADA	FUZ	CFAP410	SHH	ARSB	KLHL40	DYM	MESD	DLK1	GPX4	AR	CHRNA1	ORC6	TTC21B	CDT1	KCNQ1OT1	CENPJ	PORCN	LRP4	SERPINH1	COL1A1	TNFRSF11A	ORC1	PIGG	LMOD3	EFL1	SUFU	GDF11	DONSON	ORC4	PLOD1	CDON	TBC1D24	APC	RAF1	MBTPS2	H19	GLB1	VPS33A	ANTXR1	MTM1	VAC14	WNT1	PUF60	BGN	GAS1	PRKCZ	POP1	EXT1	SIX6	IDUA	CEP152	UBE4B	FGFR2	HES7	LZTR1	LMNA	SCUBE3	MTMR14	HOXD13	ALPL	PAX7	KAT6A	VDR	SEC24D	IDH1	DYNC2I2	VANGL1	NOTCH3	TRAPPC2	KCNAB2	IHH	COG1	BMP2	LFNG	FBN1	B3GALT6	WASHC5	CLCN7	OCRL	SOS1	MMP23B	POLR3A	IFT43	XYLT2	CUL7	SELENON	HERC1	SETBP1	SOST	TNFSF11	PDPN	ALG12	HGSNAT	TNFRSF11B	DACT1	NRAS	SOS2	MATN3	MUSK	PTDSS1	FGF8	MAPK1	IFT57	NSDHL	WNT3	TRPV6	COMP	CDC45	PRKACA	RASA2	MAF	AFF3	COL10A1	DHCR7	FGFRL1	SLC35D1	GNS	SPEN	HHAT	ADAMTS10	CYP27B1	ANK1	RSPO2	ANKRD11	DYNC2LI1	FOXF1	NEK9	ACP5	PAX3	P3H1	AIFM1	KMT2A	B3GAT3	OFD1	ACTB	RAB33B	SCARF2	PCYT1A	PLCB3	SRCAP	EFNB1	DNMT3A	ACTA1	SMO	CASZ1	KDELR2	MAP3K7	EVC2	ERMARD	P4HB	CRTAP	PRKG2	GATA4	IFT122	CCDC22	GLI2	PCGF2	MTX2	DLL1	SH2B1	KCNJ8	TCIRG1	MAP2K1	LUZP1	BANF1	TBX15	NAA10	PTEN	CTNS	PPP3CA	EZH2	FOXH1	PIEZO2	SF3B4	IFT80	GABRD	TBX5	CREB3L1	UBA1	NEK1	CBL	RTTN	RYR1
HP_OVERGROWTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVERGROWTH	RTL1	GPC4	HERC1	SETD2	RNF135	TGFB3	SOST	PIGA	DICER1	KRAS	EED	PIK3CA	FBLN5	DLK1	NRAS	NF1	CDKN1C	GPC3	MEG3	HSPG2	EFEMP2	HRAS	ESR1	HNRNPK	KMT2C	KCNQ1OT1	GPR101	SUZ12	IGF2	FIBP	EHMT1	FAM20A	PDGFRB	KCNQ1	NFIX
HP_ABNORMAL_ILEUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ILEUM_MORPHOLOGY	FANCM	TNFAIP3	IL1RAPL1	TTC7A	CLCN4	RAD51	PALB2	AGTR2	RELA	UBE2T	GPC3	MAD2L2	DMD	ARHGEF6	FANCA	CARD8	FANCC	BRIP1	ZNF41	FANCG	FOXF1	GDI1	IQSEC2	FTSJ1	ACSL4	UPF3B	RPS6KA3	DLG3	FANCF	SYP	ERCC4	MYH11	GPC4	SLX4	FANCD2	MID2	ZNF711	PTCHD1	RFWD3	TSPAN7	FGFR1	USP27X	BRCA2	XRCC2	MED12	SLC9A7	FRMPD4	ZNF81	ARX	DIS3L2	PPP1R12A	PAK3	ALG13	MECP2	RAB39B	FANCB	FANCL	RBM8A	RAD51C	USP9X	CNKSR2	BRCA1	FANCE	STEEP1	FANCI	HCFC1
HP_ABNORMAL_UMBILICUS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_UMBILICUS_MORPHOLOGY	MLXIPL	COMT	COLEC10	EED	EOGT	ROR2	NEUROD2	SRCAP	RAD51	RIPK4	GATA6	TWIST2	GPC3	ABCC9	AGA	TSHB	MYH11	GTF2I	FANCC	ZBTB24	SCN2A	SLC6A5	NCF1	SLC5A5	HSPG2	FBXW11	MBTPS2	SPECC1L	DGCR6	LIMK1	ISL1	MEGF8	ALDH18A1	EIF4H	HDAC4	TOR1A	MED12	GNPTAB	ERCC3	ANTXR1	FANCF	LMOD1	ERCC4	TBX1	GPC4	PROP1	FGD1	MPLKIP	FANCD2	LRP2	ZMPSTE24	SLC2A10	CDKL5	CHRNG	OCRL	KNSTRN	NECTIN1	MESP2	GLRB	ARVCF	RIN2	GTF2E2	CHD7	ELMO2	ACTG2	CLDN19	CDH11	NOTCH2	KAT6A	UFD1	KCNJ11	FANCL	SLC26A2	LMNA	CCBE1	COL5A2	SMAD3	EN1	FRAS1	TG	NSD1	ATP7A	GNAO1	PLAGL1	SEMA3E	MID1	SLC25A24	BCL11B	HYMAI	ABCC8	PAX8	FZD2	PACS1	IRF6	NOTCH3	GMNN	LHX4	HIRA	LHX3	PALB2	GLI3	AEBP1	SETD2	FREM2	BSCL2	PIGQ	MAD2L2	AGPAT2	FANCA	BCL7B	FBN1	SKI	KMT2C	MYH3	FANCG	RAC1	PIGS	TP63	LFNG	FGFR2	IYD	GPHN	ARX	GUSB	NIPBL	SETBP1	KCNA1	H19	SHANK3	GTF2H5	TARS1	AUTS2	FBLN5	RAB23	DUOXA2	ARID1B	FLNA	MTOR	NXN	POU1F1	PORCN	SEC24C	METTL27	TBL2	CDCA7	NOTCH1	ERCC2	TGFBR2	ZFP57	KRT1	TRIP11	SUZ12	FANCB	NSDHL	EHMT1	DVL1	LTBP4	FKBP14	FANCI	FTO	ESS2	TRAF7	PRDM5	NALCN	FANCM	APC2	DNMT3A	COL5A1	PLOD1	IDS	TRIM8	ADNP	PIK3CD	RTL1	TRRAP	NFIX	ELN	TMEM270	TENT5A	CAVIN1	PPP2CA	BRIP1	KCNH1	RFC2	DNMT3B	LBR	ATP6V0A2	SOX6	GPC6	BMP1	PHGDH	SLX4	RIPPLY2	PRR12	ATAD1	COL1A1	NKX2-5	CREBBP	FKBP6	TSHR	STX1A	MAPRE2	DVL3	COLEC11	GLIS3	HELLS	BAZ1B	DUOX2	SNIP1	COL3A1	EFNB1	RNF2	C1S	RNF113A	NEU1	IGF2	DGCR2	MAN2B1	TGDS	ADAMTS2	MYLK	SIK1	COL2A1	BUD23	IDUA	RAD51C	TMEM70	FANCE	DNAJC30	ATRX	PRKG2	GRM7	GLRA1	KIF7	JMJD1C	DLL3	PNKP	DMXL2	GTF2IRD2	MEG3	MED13L	CASK	SCN1B	VPS37D	KCNJ8	UBE2T	HESX1	WNT5A	DLK1	SALL1	CHST14	PTCH1	TPO	HES7	IKBKG	MASP1	GJA1	TFE3	SLC35C1	SEC31A	IPO8	EZH2	TUBB	ARSB	KDM3B	B3GLCT	RFWD3	SH3PXD2B	DGCR8	BRCA2	XRCC2	RREB1	PIGP	GRIP1	CLIP2	GP1BB	SLC25A22	GTF2IRD1	BRCA1	MSX1	BCOR	POLR3GL
HP_BARREL_SHAPED_CHEST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BARREL_SHAPED_CHEST	TRIP11	CHST3	FUCA1	DYM	TRAPPC2	MYH3	RAB33B	TNFRSF11B	LRP5	COL2A1	KDELR2	WNT7A	ACP5	TRPV4	HRAS	P3H1	LBR	CILK1	VPS33A	ACAN	EIF2AK3
HP_ASYMMETRY_OF_THE_THORAX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASYMMETRY_OF_THE_THORAX	H19	HERC1	PTEN	AKT1	KCNQ1OT1	IGF2	MESD	ANTXR1	AMER1
HP_PRENATAL_MOVEMENT_ABNORMALITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRENATAL_MOVEMENT_ABNORMALITY	PIGG	LMOD3	TPM2	MYO9A	AGRN	BIN1	HDAC8	PLOD1	TBCK	NDN	RIPK4	SNAP25	PREPL	SNRPN	HSPG2	CTBP1	SCN3A	CNTNAP1	ACTA1	RYR1	CAMKMT	PEX19	NTRK2	TOR1A	NELFA	CHRNE	MPZ	NUP188	SZT2	KBTBD13	SYT2	SLC25A1	NEB	LETM1	SLC16A2	RAPSN	IGHMBP2	ZMPSTE24	NUS1	MYF6	GABRA2	CHRNG	EBF3	TRIP4	MYCN	NSD2	SCN8A	GMPPB	LMNA	TPM3	DNM2	NEXMIF	BICD2	MTMR14	PAX7	PTRH2	MYL1	SMN1	COL6A1	ATP1A3	CDK19	YWHAG	COL6A3	DPAGT1	SMC3	GLE1	TSFM	PHGDH	ARV1	MTM1	ITGA7	KIF5C	SLC25A26	CPLX1	CHAT	CRPPA	NALCN	ATP1A2	CACNA1A	CHRND	KCNB1	HCN1	SLC3A1	CHUK	MYOD1	PIGS	FGFR3	SYNJ1	MYMK	CNTN1	MKRN3	MYH7	GLDN	PSAT1	GPKOW	UBA5	MAGEL2	H19	OCA2	PPM1B	SCYL2	GGPS1	MYL2	CACNA1B	GNB2	KLHL41	DOK7	MAP3K20	PEX3	MUSK	NPAP1	DHCR7	GABRB2	ALDH7A1	COL6A2	TMCO1	GRIN2D	PWAR1	ALG9	SMC1A	ERGIC1	MYH3	WWOX	DMPK	SYNGAP1	FGFRL1	RAD21	CCDC174	POLR2A	DNM1L	NIPBL	CELF2	NECAP1	GBE1	USP7	SLC1A2	VAMP1	EEF1A2	MEGF10	NEK9	KCNA2	AARS1	MYPN	ASCL1	ERCC5	PPP3CA	BRD4	SLC5A7	COL12A1	ATP6V1A	ADGRG6	IL2RB	ALG8	SELENON	ACTL6B	TRAK1	RAI1	GABRG2	IGF2	KLHL40	VPS13B	SLC18A3	COL13A1	SYNE1	TRPV4	TRAIP	NFASC	LGI4	CYFIP2	FLII	PLPBP	SLC25A19	SLC13A5	GFPT1	ERBB3	UBA1	ASCC1	HERC2	DEAF1	PRUNE1	DNA2	FGF12	DNM1	GABRA5	NUP88	GBA	HACD1	PWRN1	RET	FXR1	FGF13	SNORD115-1	COX15	ZC4H2	CNKSR2	EXOSC9	PARS2	B3GLCT	CLTC	DPYSL5	WDR62	DHDDS	ALG14	CHRNA1	ZBTB42	IQSEC2	ODC1	SNORD116-1	UNC45B	AP3B2	DALRD3	PHOX2B
HP_ABNORMALITY_OF_THE_AMNIOTIC_FLUID	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_AMNIOTIC_FLUID	COMT	MYO9A	AGRN	BIN1	ALX4	BNC2	TBCK	RAD51	HYLS1	BRAF	DPM2	GPC3	MAMLD1	KIDINS220	MYH11	FGFR3	KLHL41	FANCC	HSPG2	DOCK6	SOS1	TOR1A	PIGW	GREB1L	DZIP1L	AGT	AMER1	FANCF	LMOD1	ERCC4	TTC26	GPC4	FANCD2	C1QBP	SLC25A1	ALG1	ODC1	COL11A2	B9D1	GLE1	CLCN7	MYF6	OTX2	SLC5A7	EBF3	RRAS2	TRIP4	CHRNG	TBCD	MYCN	RPL10	CHD7	ALB	ESCO2	STRADA	DEF6	PAFAH1B1	FANCL	SLC26A2	ERF	SEMA3E	PLAG1	FOXE1	PHGDH	SLC25A24	ITGA7	CA2	IRF6	FUT8	ACTA1	LMOD3	WDR35	EFEMP2	BUB1B	MAD2L2	NALCN	RYR1	FANCA	WDR73	SMG9	MYOD1	TTC7A	KIAA0586	IBA57	RIT1	HRAS	DSP	DDX6	IKZF1	PMM2	ITGB4	WNT4	SLC26A3	FLNB	UROS	SCYL2	FBLN5	MAP3K20	MYLK	DALRD3	CALCRL	GATA6	RNU4ATAC	DIS3L2	CREBBP	TRIP11	PIGN	CLCNKA	CEP57	NPHP3	FANCB	TMCO1	SNRPB	TMEM231	DYRK1A	FANCI	FIG4	ATP6V1B2	PKHD1	ERGIC1	PBX1	DMPK	HADHB	ADAT3	DNM2	MYL9	LONP1	RTL1	CHRM3	COX14	SLC12A1	KCNJ6	ASXL1	TBX1	GBE1	FARSB	FGF20	PIEZO1	MYPN	INPPL1	ZMPSTE24	ITGA6	SLC27A4	TPM2	INVS	DOK7	HMGA2	KCNJ1	ADGRG6	PGAP2	OTUD5	FARSA	PTH1R	IGF2	HNF1B	PLAGL1	CNTNAP1	COL13A1	GMPPB	RAD51C	MYH3	KIF7	FANCE	AGTR1	TCTN1	LTBP3	TRAIP	GLI3	CHRND	ADARB1	NEB	COL2A1	CD96	FLVCR2	MADD	MEG3	UROD	TSEN54	CLTCL1	ABCB11	RHAG	ASCC1	RHD	CFL2	FXR1	KAT6B	PPP1CB	EP300	TAPT1	WNT9B	NUP88	GBA	HACD1	TMEM107	OSGEP	COG5	BUB1	TMEM67	BSND	WDR81	MKS1	TP63	EXOSC9	TRIP13	IARS1	KLHL40	HYMAI	KDM3B	ATP8B1	B3GLCT	CC2D2A	SATB1	DLK1	ACE	YWHAE	PIGQ	ALG14	CHRNA1	BRCA2	XRCC2	NEK8	GP1BB	ATP1A2	PDSS2	LARS2	BRCA1	AMMECR1	GNPTAB	MOGS	DYNC2I1	DONSON	KRAS	SOX9	NRAS	ALG8	SNRPN	TMEM216	HBA1	TBC1D24	ABCC6	MBTPS2	TCTN2	PLEC	HSPA9	HADHA	KBTBD13	MTM1	PNPO	VAC14	NR1H4	PUF60	HSD17B4	ALG12	SLC16A2	RAPSN	SPOP	CSPP1	TMEM237	LZTR1	NECTIN1	PIGL	ARVCF	PHACTR1	CERT1	LMNA	TPM3	KIF14	SNAP25	MTMR14	HOXD13	ALPL	UFD1	SEC24D	ZNF699	CDKN1C	DYNC2I2	RET	PRRX1	TMEM70	SLC35A2	SYT2	MAGED2	SLC25A26	HIRA	CEP290	PALB2	POR	SHOC2	CHAT	CBL	HBA2	PIGV	FANCG	DHPS	CNTN1	VANGL2	ITGA8	RPGRIP1L	ATAD3A	GLDN	SLC25A46	H19	COQ2	MYL2	GNB2	RPGRIP1	RAF1	ACTG2	CLCNKB	MUSK	SEC24C	BUB3	ALDH7A1	WNT3	TRPV6	FBN1	FANCM	B9D2	LIFR	DHCR7	B3GALT6	SLC35D1	REN	ABCB4	PKLR	RSPO2	BRIP1	VAMP1	DYNC2LI1	AQP2	FOXF1	NEK9	GRM7	ASCL1	PGAP3	CPT2	CRB2	SLX4	TALDO1	EXT2	SLC9A3	PIGY	AVPR2	RNF2	TCTN3	SLC18A3	LHX1	HS2ST1	EBP	MTHFR	LBR	UBE2A	TXNDC15	HIC1	ENPP1	SIN3A	JMJD1C	MAFB	SELENON	PLPBP	PCGF2	SLC13A5	ERBB3	PLVAP	PIGO	UBE2T	RHCE	MRPS22	SOX17	SPINT2	SETD1A	ASXL3	ALG9	JUP	COQ7	BMPER	IPO8	PIGA	TRAPPC12	TTC37	GATA1	RFWD3	RPL11	ZBTB42	RREB1	EXTL3	ADAMTS3	CEP55	MSX1	ZC4H2	PHOX2B
HP_POLYHYDRAMNIOS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYHYDRAMNIOS	MOGS	LMOD3	DYNC2I1	COMT	MYO9A	AGRN	BIN1	KRAS	SOX9	BSND	HYLS1	BRAF	NRAS	DPM2	GPC3	ESCO2	MAMLD1	HBA1	KIDINS220	MYH11	FGFR3	FIG4	KLHL41	TBC1D24	ABCC6	HSPG2	CNTNAP1	PLEC	SOS1	TOR1A	COL2A1	KBTBD13	AMER1	MTM1	LMOD1	VAC14	TBX1	TTC26	KAT6B	GPC4	HSD17B4	ALG12	SLC25A1	PIGN	ODC1	NEB	SLC16A2	RAPSN	COL11A2	TPM2	ZMPSTE24	SPOP	CLCN7	MYF6	OTX2	SLC5A7	RRAS2	CHRNG	TBCD	LZTR1	MYCN	RPL10	NECTIN1	SEMA3E	ARVCF	PHACTR1	LMNA	CHD7	FANCB	TPM3	DNM2	SNAP25	MTMR14	CREBBP	HOXD13	ALPL	UFD1	STRADA	PAFAH1B1	SLC26A2	ERF	ZNF699	RYR1	ITGA6	DYNC2I2	FOXE1	PRRX1	PHGDH	ITGA7	SYT2	MAGED2	IRF6	SLC25A26	FUT8	HIRA	TTC7A	ACTA1	SHOC2	INPPL1	WDR35	CHAT	BUB1B	TSEN54	NALCN	CBL	HBA2	SMG9	MYOD1	KIAA0586	IBA57	RIT1	HRAS	IKZF1	CNTN1	VANGL2	ATAD3A	PTH1R	ITGB4	GLDN	SLC26A3	FLNB	SLC25A46	SCYL2	MYL2	RAF1	MAP3K20	ACTG2	CLCNKB	MUSK	SEC24C	CALCRL	BUB3	DIS3L2	TRIP11	GLE1	CLCNKA	CEP57	TMCO1	WNT3	TRPV6	SNRPB	DYRK1A	ATP6V1B2	MYH3	RTL1	DMPK	DHCR7	ADAT3	SLC35D1	LONP1	SLC12A1	KCNJ6	RSPO2	ASXL1	GBE1	VAMP1	DYNC2LI1	AQP2	B3GALT6	FOXF1	GRM7	PIEZO1	NPHP3	MYPN	ASCL1	CRB2	SLC27A4	EXT2	DOK7	SLC9A3	KCNJ1	PIGY	ADGRG6	AVPR2	OTUD5	MEG3	KLHL40	SLC18A3	EBP	MYLK	COL13A1	MTHFR	LBR	KIF7	HIC1	LTBP3	ENPP1	TRAIP	SIN3A	CHRND	ADARB1	JMJD1C	MAFB	SELENON	CD96	FLVCR2	MADD	PCGF2	ERBB3	PLVAP	ASCC1	CFL2	PPP1CB	EP300	TAPT1	FANCF	DLK1	NUP88	GBA	SOX17	SPINT2	HACD1	RET	BUB1	ASXL3	ALG9	IPO8	WDR81	TP63	TRIP13	PIGA	KDM3B	B3GLCT	TRAPPC12	TTC37	YWHAE	RPL11	PIGQ	ALG14	CHRNA1	ZBTB42	RREB1	EXTL3	GP1BB	ADAMTS3	ATP1A2	MSX1	ZC4H2	AMMECR1	PHOX2B
HP_OLIGOHYDRAMNIOS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OLIGOHYDRAMNIOS	ERGIC1	MYH3	PBX1	FANCM	B9D2	LIFR	DONSON	B3GALT6	MYL9	ALX4	BNC2	CHRM3	COX14	TBCK	RAD51	REN	ALG8	SNRPN	TMEM216	DYRK1A	HBA1	FANCC	BRIP1	NEK9	MBTPS2	FARSB	FGF20	TCTN2	DOCK6	NPHP3	HSPA9	IGF2	PIGW	GREB1L	ASCL1	DZIP1L	AGT	AMER1	FANCF	PGAP3	ERCC4	BUB1B	CPT2	PUF60	SLX4	FANCD2	C1QBP	TALDO1	INVS	ALB	HMGA2	B9D1	CSPP1	TMEM237	PGAP2	EBF3	TRIP4	RNF2	FARSA	TCTN3	PIGL	HNF1B	LHX1	PLAGL1	CERT1	KIF14	HS2ST1	ITGA8	DEF6	GMPPB	SEC24D	UBE2A	FANCL	TXNDC15	RAD51C	TMEM70	FANCE	AGTR1	TCTN1	CDKN1C	GLI3	RET	PLAG1	SLC25A24	SLC35A2	CA2	ACTG2	CEP290	CLTCL1	PALB2	RHAG	PIGO	POR	UBE2T	RHD	FXR1	EFEMP2	RHCE	MAD2L2	NALCN	HBA2	FANCA	WDR73	PIGV	PKHD1	WNT9B	FANCG	TMEM107	SETD1A	OSGEP	COG5	DSP	ALG9	DDX6	JUP	COQ7	DHPS	TMEM67	BMPER	RPGRIP1L	WNT4	MKS1	EXOSC9	MYH11	IARS1	HYMAI	H19	CC2D2A	SATB1	FBLN5	COQ2	RFWD3	ACE	GNB2	RPGRIP1	PIGY	MYLK	BRCA2	XRCC2	DALRD3	GATA6	RNU4ATAC	NEK8	PDSS2	FANCB	LARS2	TMEM231	BRCA1	CEP55	FANCI	PHOX2B	FBN1	GNPTAB
HP_FETAL_POLYURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FETAL_POLYURIA	CLCNKB	BSND	SLC12A1	WNT9B	MAGED2	GREB1L	ITGA8	RET	CLCNKA	FGF20	KCNJ1
HP_MULTIPLE_IMPACTED_TEETH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_IMPACTED_TEETH	HOXD13	FLNA	CDH11	PTH1R	SH3BP2
HP_MACRODONTIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACRODONTIA	PUS7	PTPN23	TRIP12	NTNG2	SRCAP	ZMIZ1	CTCF	SVBP	DDX6	IRF6	SYNCRIP	TRMT1	BCAS3	MGAT2	MADD	MAPK8IP3	SATB1	KDM4B	KCNMA1	PALS1	VPS13B	AGO2	TBC1D24	SLC12A2	PSMD12	ANKRD11	MED13	DOCK3	BRCA1	DHX37	FBXW11	WDFY3	RNF2	WASF1	MED27	ACTL6A	CLCN3	HTT	COL11A1	UBR7	KMT2E	BPTF	SMOC1	GJA1	NTNG1	TCF20	TP63	FARS2	SPTBN1	VPS51	GRIA4	BRF1	CNOT3	HPDL	HUWE1	GRIA3	BCORL1	RLIM	KCNK9	NECTIN1	ACTL6B	PURA	TNRC6B	KAT8	SETD1A	MYT1L	TRAPPC4	EMC10	LMBRD2	CCDC32	CDK10	DPYSL5	PQBP1	MSX1	JARID2	HS2ST1	TCF7L2	TANC2	ATP6V1B2	ANKRD17	MBD5
HP_PRIMARY_HYPERCORTISOLISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMARY_HYPERCORTISOLISM	CDKN2B	PRKACA	PRKAR1A	CDKN1B	CDKN2C	CDKN1A	MEN1	GNAS	PDE11A
HP_RECURRENT_SKIN_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_SKIN_INFECTIONS	CYBA	CIITA	AIRE	PIK3R1	CARD9	GFI1	CLEC7A	RFXANK	RFXAP	CD79A	PSEN1	FERMT1	EGFR	NFE2L2	FOXC2	DSG1	XIAP	ZNF341	MRTFA	KRT1	LAMA3	KRT5	RFX5	BLNK	TCF3	ELANE	CYBB	TMC8	PGM3	FERMT3	GJB2	CTSC	JAK3	NFKB1	IL7	CD3D	IL2RA	MMP1	FOXP1	USP8	CHST14	NCF2	AP3B1	CD247	STAT1	COL7A1	KRT14	IL17RA	UBE2A	IL17F	NCF1	FOXP3	ITGA6	SYK	TFRC	UROD	LRRC8A	CD3E	IGHM	DOCK8	CFI	STAT3	CDH23	DCLRE1C	SREBF1	IL2RG	LAMC2	BTK	ADAM17	PIK3CD	GJC2	LYST	PSENEN	MYD88	KNSTRN	DSE	LAMB3	SRP54	PKP1	IL10RA	LCP2	IL6R	POLR3A	CIB1	MBL2	UROS	ZAP70	SHANK3	BTD	GATA1	ITGB4	WDR1	EPG5	HYOU1	IGLL1	IKBKB	TMC6	GJB6	MVK	GINS1	TCIRG1	CD79B	CARMIL2	SP110
HP_REDUNDANT_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUNDANT_SKIN	RTL1	ELN	EFEMP2	MLXIPL	GGCX	ALDH18A1	TWIST2	FGFR3	KIAA0586	FIG4	MAP2K1	TMEM270	GTF2I	EZH2	NCF1	PITX2	RFC2	LIMK1	EIF4H	FGF20	VAC14	ALG12	FKBP6	FBLN5	SLC25A24	STX1A	BAZ1B	OTUD5	MEG3	NDUFB10	COL3A1	ANTXR1	B4GALT1	CHST14	KRAS	RIN2	ADAMTS2	SUZ12	FGFR2	BUD23	GORAB	WDR37	LTBP1	DNAJC30	SLC2A10	BRAF	CD96	HPGD	GTF2IRD2	GPX4	EED	AEBP1	VPS37D	TBX15	ATP6V1A	DLK1	MRPS22	ATP6V1E1	BCL7B	HRAS	NPR2	PTDSS1	PEX1	MRPS16	SLC6A8	DSE	MAP2K2	ATP6V0A2	EXT1	NAA10	PYCR1	NSD1	CSPP1	METTL27	TBL2	CLIP2	TRPS1	NDUFB11	SH3PXD2B	GTF2IRD1	RPS6KA3	FOXC1	CEP55	ATP7A
HP_ROTARY_NYSTAGMUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ROTARY_NYSTAGMUS	PPP1R21	PNPO	LYST	ERLIN2	PPP2R5D	PLP1	TELO2	GFER	NPHP4	ACBD5	SLC16A2	MPC1	GJC2
HP_BELL_SHAPED_THORAX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BELL_SHAPED_THORAX	FLNB	UBE3B	FGFR2	COL2A1	PAM16	CANT1	DDRGK1	HHAT	XYLT1	INPPL1	CSPP1	ANTXR1	DDR2	KIAA0586	CEP120	IFT172	COL1A1	KDELR2	PEX1	PAX7	COL11A2	TBX15	COL11A1	COL1A2	SNRPB	SLC26A2	BMPER	DYNC2I2
HP_SELECTIVE_TOOTH_AGENESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SELECTIVE_TOOTH_AGENESIS	DLX3	GJA1	MSX1	FLNA	DDX59	WNT10A	TP63	ATR	BLM	LRP6	NAA10	IRF6	DLX4	B3GLCT	CEP152	NECTIN1	WNT10B	GLI2	FGFR1	ATP6V1B2	PAX9	AXIN2	BMP4	ARHGAP29	DLG1	FGF3	EDA	EDARADD	EIF4A3	BCOR	RIPK4	CDH3	NEK1	GREM2	TGFA	SUMO1	CDH1
HP_ABNORMAL_HAIR_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HAIR_MORPHOLOGY	TP53	MSX1	MYO5A	PERP	ZEB2	ECM1	UQCRFS1	XYLT1	ABCD1	RRAS	DPM2	RAC3	GPC3	PARN	CDC42	SKIV2L	SNRPN	BCOR	HSPG2	CEP41	WNT10A	NECTIN1	CDH2	SOS1	MED27	HDAC4	FAM149B1	ZMPSTE24	ERCC3	NDUFA10	MAB21L1	RBM10	GTPBP2	ODC1	GJB4	KRAS	IRF6	FGFR1	HSD3B2	ALOXE3	BBS5	NR5A1	GJA1	TBCD	CTC1	TECPR2	TSC1	CEP290	NHP2	EMC10	TOGARAM1	LMNA	TERT	KDSR	CLP1	DUSP6	EHMT1	BBS7	TRIP12	MED25	CYP17A1	EDA	NAA10	NRAS	SMARCB1	GLI3	CASR	CDH23	COLEC10	SIN3B	FREM1	RMRP	PKP1	ATP6V1A	SETBP1	CLCN3	SMARCA4	PET100	ATP1A3	SLC2A1	LAMB3	FBXW11	SGSH	LYST	DDX6	PIK3C2A	FAM20C	BRAF	KREMEN1	RPL35A	KRT86	RAI1	MBTPS2	RTEL1	NFKBIA	TCF20	RPS26	ITGB4	NIPBL	EDARADD	NSMF	UROS	TMEM94	BRF1	TARS1	SMS	ARID1B	RPS15A	WDR35	SEMA3E	ALX3	RLIM	KCNN3	RAB3GAP2	STAMBP	NKX6-2	MAGEL2	MYT1L	FIG4	OCA2	ZPR1	ALMS1	AIRE	SPEN	RPL15	ADAT3	KAT6B	RAD21	PLAA	INSR	LEMD3	FAS	RAB3GAP1	VPS13B	PNPLA6	EGFR	KCNH1	VARS1	LIG4	LHX4	OFD1	LAMA3	FRAS1	KIT	ADAMTS3	NDN	CEP104	CDH1	UBE3A	PIGL	HPDL	CDK19	KRT17	RUSC2	DCAF17	SMARCD1	SPATA5	GDF3	PDE4D	ERCC6	TERC	GTF2E2	TFAP2A	RNU4ATAC	PUS7	TLK2	SPATA5L1	FLI1	SIAH1	SNX10	ABCA12	TWIST2	CNP	SYNCRIP	KRT25	AASS	TUBGCP2	DEAF1	PHF8	SNRPE	H6PD	AGO2	PPP1CB	RPS19	EMC1	MASP1	CBS	PIK3R1	CLMP	COL18A1	CSPP1	DSTYK	SLC1A3	UROD	FRMD4A	KISS1	EP300	DVL3	SPTBN1	CYB5A	KRT10	CHST3	KNL1	PRDM5	NDUFB11	PAX3	KAT8	GATA1	AFF4	ATP6V1B2	SLC19A3	PYCR2	PIGK	APC	MT-ND6	BMP15	HDAC8	RALA	PURA	MKS1	EDAR	IFT122	HTRA1	TGM1	KDM4B	AIP	SASH1	SMOC1	SLC6A17	DSG1	SCO2	CTBP1	CEP152	MEGF8	GLB1	ACTG1	FGFR2	CC2D2A	GSN	AR	MT-TW	CACNA1G	ALG12	PEX7	TBC1D24	CDK5	PTPRF	KRT6A	LZTR1	RIN2	CERT1	RPL5	SCUBE3	TNRC6B	WDR11	IRAK1	FOXP2	CTSC	EDNRB	CCBE1	MCCC2	TACO1	CENPE	AP3B2	PRRX1	FGF3	XPA	RALGAPA1	MLPH	CRIPT	KCNAB2	ERCC8	PPP1R15B	FHL1	NPM1	AGPAT2	EDNRA	SYNGAP1	CLCN7	OCRL	TRPV3	ACTL6A	UBR7	MSTO1	GAN	CPLANE1	SETD5	GNA11	SMO	B9D1	PLEC	MAP3K7	SHANK3	HGSNAT	KLF13	SLC24A5	NSUN2	NUP107	COL3A1	UBR1	MAPK1	ADA	GNAS	ERCC4	GNRH1	LMNB2	KRT1	SOX10	PQBP1	XPC	ANAPC1	KRT14	DSC2	HS2ST1	RTL1	COL7A1	AFF3	SRCAP	CPOX	CPLX1	FGFR3	APOE	AXL	ESCO2	DCLRE1C	TP63	BLOC1S5	ANKRD11	BPTF	MT-TS2	LZTFL1	KATNIP	PGAP3	PHGDH	UGDH	CNOT3	RECQL4	KIFBP	SATB2	KIF7	DSP	TAF1	MEG3	ATM	NEU1	FGF8	DUX4	EBP	HS6ST1	ERMARD	PLK4	MT-ND5	BBS10	SIN3A	GPR101	ATP6V0A2	UBE3B	PROK2	HLA-DRB1	PPARG	SEC23A	CTCF	DMRT3	BTD	PDE6D	HYLS1	ATP1A2	DKC1	TYR	NOP10	BBIP1	MED12L	WDPCP	ARL3	C12orf57	ZNF292	ASXL3	MGMT	COL17A1	INTS1	PTEN	JUP	TTC8	HLCS	SEC31A	TINF2	HLA-DQB1	RPL31	TRAIP	SF3B4	MED12	NSD1	NDUFS1	B3GLCT	TSR2	TCHH	ERCC2	IQSEC2	RAB27A	TMEM67	OTUD6B	SPECC1L	TRIO	FTL	CWC27	DCT	IL7R	ALX4	SZT2	KANSL1	ITGB6	HR	ABCC9	FRMPD4	PREPL	ABCA2	MITF	KRT5	DOCK6	PEX19	AP2M1	HCCS	HLA-DRA	GPC4	INTU	MPLKIP	COX5A	RAG1	IFT27	LETM1	CANT1	MAN1B1	MT-TH	SPP1	CD28	FOXRED1	GDF6	SURF1	NFIX	AHSG	SALL4	TMEM216	MYO18B	COLEC11	NEK1	PAH	FOXE1	CAVIN1	SLC25A24	PACS2	TBCK	SMC1A	NAGLU	FUT8	ARHGAP31	SLC1A4	AIMP2	MAPK8IP3	MRAS	HNRNPU	SREBF1	NDUFS4	ARID1A	HPGD	SLC3A1	CACNA1F	TRAF6	BRCA1	CACNA1A	MKRN3	RPS10	TFAP2B	OTX2	WDR26	IKBKG	TASP1	ATP10A	NPHP1	SUOX	MT-CO2	AUTS2	PIGV	PRDM16	CHD7	FRG1	CEP120	RAB18	MTOR	PIGN	HPD	CWF19L1	NSD2	NDUFAF3	SLC45A1	CCDC32	TBL1XR1	HBA1	ATP7A	NDUFS8	FGD1	TACR3	ASXL1	GNRHR	CAMK2G	VAMP7	RERE	SPIDR	LSS	TRRAP	USP9X	DOLK	FGF5	COX7B	CLDN1	SMARCD2	SIM1	PRR12	GJB2	CDH3	KIAA0753	ELN	SLC39A4	ERCC5	SMARCC2	NFKB1	PGAP2	FOXP1	NR3C1	SDR9C7	PLCD1	ABHD5	BLM	AP3B1	TBC1D20	NEK9	RPL21	ZBTB20	CDK10	FOXP3	STAT4	TCOF1	PCNT	SPINK5	DLX3	CD96	CDKL5	CNBP	COL11A1	RPS24	KISS1R	SMARCA2	SPOP	PLOD3	MAF	ZIC1	ADAM17	PIK3CD	CYP4F22	CKAP2L	CYP11B1	CFAP418	TRPS1	PDHA1	B4GALT7	ZNF462	ARL13B	POLR1B	CHRNG	TAC3	ARSB	PAPSS2	SATB1	UBE2A	TGM3	COL25A1	TBX2	NXN	CEP57	BCS1L	AEBP1	PPOX	GATAD2B	GNPTAB	NOTCH3	HFE	GDF11	MOGS	SLC45A2	MLXIPL	ARID2	ROR2	XRCC4	GPRASP2	IFT172	KCTD1	CYFIP2	BTNL2	CAMKMT	FSHB	PRKAR1A	VPS33A	PSMB8	KRT71	NDUFAF5	HMGA2	VAC14	LPAR6	PUF60	UROC1	ALOX12B	BBS9	KMT2D	ALDOA	NF1	STN1	UBE4B	WRN	SUZ12	FOXA2	CREBBP	NOTCH2	HUWE1	CCDC141	SLC12A6	BBS1	HESX1	TANC2	AP3D1	TBX3	CHMP1A	MAB21L2	STAT3	FZD2	SOX4	LIPH	BCAS3	FAR1	SHOC2	TBX15	BSCL2	RPS20	BMP2	FLNA	KLHL24	RAC1	CHSY1	PTPN22	MMP23B	GUSB	TMEM237	SOX18	GTF2H5	MGAT2	B3GALT6	EVC	ACD	PROKR2	LAS1L	PEPD	SRA1	ACER3	FAM111B	CHN1	IFT43	HRAS	STAG2	DSC3	ADNP	ALX1	FGFRL1	KRT81	CUL7	NDUFAF6	CTNND1	MAP3K1	SRD5A2	RIPK4	BBS12	CCNK	FBXL4	DPYD	STAG1	CCDC47	MAP2K2	FAT4	EXOC8	AIFM1	INPP5E	DPF2	SOX6	APCDD1	ATRIP	CDON	CBY1	PROP1	FOXN1	SETD2	SCARF2	CCDC22	LIPT1	EFNB1	MTFMT	DNMT3A	RPL11	SLC9A6	KRT16	SHROOM4	BCR	GLI2	MTX2	FOXC2	OAT	PIGO	FBN1	PTPN11	PRKCD	ABCA5	LRMDA	LUZP1	SOX3	MC1R	CDSN	TRMT10A	HOXC13	MID1	CTNS	PEX6	EZH2	EPS8L3	SHMT2	NDUFS2	ZNF711	MEN1	DHX37	CARS1	GABRD	SKI	MMP14	SOS2	PPP1R21	IDS	SMCHD1	WASHC5	MTAP	EDA2R	MT-TQ	SLITRK1	JARID2	HPS3	FSHR	NTNG2	CCDC28B	STUB1	POLA1	DOCK7	CDK4	RIT1	LARP7	PDE8B	PIGW	CTU2	KRT6B	TCF12	LRP2	TWIST1	EBF3	ASL	RPL10	BRCC3	PACS1	EVC2	MT-CO1	COL1A2	WT1	CEP19	MT-ND1	STRADA	CRKL	SLC6A9	SNAI2	SMC3	TBX4	ERLIN2	LHB	PTPN23	KATNB1	SNX14	SRD5A3	SMARCAL1	GJB6	FREM2	POLR1D	MT-TF	COPB1	RPL27	KNSTRN	KDM6A	DYNC2LI1	WDFY3	ECEL1	PRKACA	TTC37	FUCA1	PSMC3IP	ARMC5	KRT74	ZSWIM6	HYOU1	MEIS2	BCORL1	MT-TL1	TERF2IP	SLCO2A1	NPAP1	RPS6KA3	TMCO1	CENPJ	TRIM32	NDUFV2	KRT83	ZFPM2	PRKD1	NDUFA4	TENT5A	MAN2B1	DHX30	SYT1	HPS4	WNT10B	KMT2E	BMP1	NDUFAF2	POT1	BRD4	RNF113A	OTUD5	MKKS	KCNK9	TGDS	SPRY4	WWOX	NDUFA12	ZNF469	PUS1	TCF7L2	PHIP	IDUA	BCL11B	GNE	TTC7A	POC1A	IARS2	FDFT1	IGF1R	ZIC2	DSG4	PHF6	CCDC8	TFE3	GON7	LIPN	SNORD115-1	PIGU	DLL4	KIF11	TRAPPC9	SLC29A3	TMEM138	NTRK1	TUBB	PGAP1	LMX1B	CDKN2A	MESD	ECHS1	IFIH1	AHI1	ORC6	THOC6	COG4	KCNE5	ACVR1	SETD1A	ACTB	ST14	COX15	CAV1	PORCN	SVBP	EXOSC2	TCTN2	PIGG	TTI2	FGF17	NOVA2	RAF1	CHD2	SPRED1	HSPA9	NUP188	ANTXR1	TRMT1	RPS28	PRKCZ	VPS51	CTDP1	UGP2	MMP1	RPL35	DLX4	PPP2R1A	KMT2C	VDR	EDEM3	ATP2A2	ORC1	HLA-DQA1	PDGFRB	ARL6	AP1B1	CBL	HPS1	GJB3	PIGS	MT-CO3	HERC1	BLOC1S3	PDPN	NOTCH1	NDUFB8	DNMT3B	KRT85	SLC9A7	PSMC3	MRPS22	EXT2	SRY	ANKRD17	TUBGCP6	APC2	GAD1	ASPM	NUP85	DDB2	MAP2K1	ZNF423	NMNAT1	KMT2A	KITLG	TALDO1	DNAJC21	ASXL2	HBA2	POU1F1	IL2RA	FMR1	RNF2	SCAPER	RRAS2	RBM28	CHD1	CUL4B	ELMO2	PRKG2	ARHGEF2	CTLA4	TCTN3	FEZF1	PDE11A	FOS	PCGF2	YARS2	RPGRIP1L	MED13L	FOXL2	KCNJ8	HERC2	TCIRG1	DENND5A	SOX11	SUFU	HEPHL1	BBS2	ARX	ALG9	MBD5	WASF1	ANOS1	SLC35C1	TMEM231	WNT4	NIPAL4	SON	RPS29	EPG5	PEX1	PYCR1	LORICRIN	MN1	HRURF	OGT	RET	IGF1	WDR81	SMAD4	ZMIZ1	NDUFA13	RAG2	AMMECR1	LMNB1	DOCK3	FBXO11	KDM1A	YY1	RPS23	ALDH18A1	NELFA	POLR1C	RPL18	LAMC2	SDCCAG8	MMP2	BAP1	ATR	NFKB2	POMC	PADI3	IFT74	FBXO31	USP8	ACTL6B	MADD	DPYSL5	TUBGCP4	LRPPRC	KDM5C	WAC	EED	BNC1	MEOX1	KCNMA1	SUCLA2	TNFRSF1B	MYH3	TRNT1	HPS5	NEPRO	SLC17A5	TOPORS	UQCC2	LHCGR	POR	PPM1B	PCSK1	SMARCE1	OBSL1	KIAA0586	EDN3	DVL1	CDK13	AKT1	MAP1B	NEXMIF	DMPK	NR0B1	USB1	SLC6A1	SLC12A2	NDUFA9	LTBP3	SLC27A4	BICRA	SPRED2	SMPD4	IRX5	GRIA4	MAPRE2	XYLT2	MEF2C	DMXL2	KDF1	NBAS	LRP1	GNA14	ADARB1	DTNBP1	FLII	MGP	HNRNPH2	WNT5A	ADA2	COG5	SETD1B	SCN1A	NDUFS7	ZFHX4	NTNG1	BTK	PNPLA1	PSMD12	DLK1	NDUFA2	MDM2	WBP11	GRIP1	MT-ND4	SNORD116-1	COG6	KAT5	EOGT	STING1	VPS35L	TYRP1	TRIM8	APTX	HLA-B	SOX9	ZNF341	MED13	CNOT2	KCNK4	NFIB	KANK2	RPS17	RPS7	POP1	PIBF1	CHRNA7	SLC30A2	TCTN1	GLI1	CDH11	KAT6A	SH2B1	RNF125	NDUFV1	TAF6	DPAGT1	RPS27	DDB1	HPS6	ZNF699	SLC35A2	ACSL4	PALS1	NANS	NBN	CLCN6	POLR3A	CDC45	ATAD3A	SLC7A7	EXT1	TNFSF11	P4HA2	ZNF407	STXBP1	VPS37A	GNB2	WDR19	ANTXR2	PTDSS1	CST6	CSTB	NSDHL	PWAR1	IL1RAPL1	RBBP8	MAFB	RASA2	DHCR7	GNS	NDUFS3	DPH1	GATA4	IL2RG	POLR3H	NECTIN4	LAMTOR2	BBS4	SDHA	HNRNPK	HTT	SUMF1	HECW2	B3GAT3	CDKN2B	AHCY	CERS3	CASZ1	ADAMTS2	NUS1	LMBRD2	RPL26	ITGA3	RHOA	ARMC9	ATP6V1E1	PPP2R3C	BANF1	IFT52	PWRN1	SULT2B1	IPO8	ZC4H2	CSNK2A1	WRAP53	PIGY	CYP19A1	COG7	EIF5A	RBPJ	TRAPPC4	CAPN15	AXIN2
HP_ALOPECIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALOPECIA	WNT10A	RAG1	EOGT	MOGS	PLEC	HFE	TERC	CTLA4	OFD1	DKC1	IL7R	ECM1	ALX4	FGFR1	UQCRFS1	EDAR	STUB1	RIPK4	RAG2	ABCD1	KANSL1	HTRA1	ITGB6	KRAS	TRPV3	TINF2	TGM1	HRAS	HLA-B	SASH1	EBP	ZNF341	ROR2	PDE8B	BTNL2	MBTPS2	LAMA3	DCAF17	KRT5	TERT	UBR1	ZMPSTE24	LAMC2	ERCC3	ANTXR1	HLA-DRA	KRT6B	LPAR6	ALOX12B	MPLKIP	LAMB3	PEX7	ODC1	ARHGAP31	SPP1	TP63	MMP1	LMNA	NRAS	ATR	CD28	GJA1	NFKB2	KRT6A	SLC30A2	DSG4	CTC1	PADI3	UROS	BCS1L	SLC29A3	GTF2E2	EPS8L3	NECTIN1	IRAK1	AHSG	VDR	LSS	DSP	MCCC2	PARN	KDSR	KDM5C	SOX18	XPA	FZD2	HLA-DQA1	CASR	GJB6	TGM3	NPM1	AP1B1	ALOXE3	SREBF1	MTX2	TNFRSF1B	GJB3	EDNRA	KLHL24	GJB2	KRT83	KRT86	FOXN1	RTEL1	ITGB4	PRKACA	EDARADD	GNA11	P4HA2	GTF2H5	NOTCH1	ARMC5	BTD	TARS1	KRT85	COL3A1	ADA	NXN	ABHD5	GNAS	PORCN	ERCC4	CSTB	ERCC2	NHP2	NSDHL	DVL1	XPC	FAM111B	KRT14	ZPR1	IKBKG	COL7A1	PTPN22	ALMS1	AIRE	KRT81	CLDN1	DCLRE1C	SMARCA2	DDB2	FOXP3	USB1	KRT17	IL2RG	PNPLA6	NECTIN4	RECQL4	APCDD1	SLC27A4	SLC39A4	DVL3	ERCC5	CHD7	NFKB1	DOCK6	IL2RA	CERS3	RNF113A	BLM	DMXL2	RBM28	ANAPC1	RPL21	KRT16	STAT4	PRKAR1A	BMP2	ABCA12	PDE11A	KRT74	HLA-DRB1	MGP	UROD	TTC7A	RHOA	HR	HLCS	NOP10	FLI1	WNT5A	PRKCD	LIPH	SNRPE	GJB4	HEPHL1	BANF1	CDSN	PIK3R1	CYP11B1	COL18A1	COL17A1	JUP	PKP1	IPO8	DLL4	HLA-DQB1	BTK	PNPLA1	GATA1	NIPAL4	WRAP53	LORICRIN	LIG4	ACVR1	RBPJ	PERP	RMRP	RIN2	HRURF	AEBP1	SLITRK1	RNU4ATAC	FTL	EXOSC2	CWC27
HP_ABNORMALITY_OF_THE_NAIL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_NAIL	RERE	EDARADD	MSX1	CTLA4	DKC1	ITGB4	PERP	PRKACB	RTEL1	TP63	EED	EOGT	DPM1	GPC3	TRPV3	TINF2	TAT	PLCD1	CKAP2L	ACD	EVC	GTF2I	SCN2A	EZH2	NCF1	EBP	ROR2	KRT5	KDM1A	TERT	TSC2	DOCK6	NECTIN1	EIF4H	PIGW	RUNX2	ABCA1	LAMC2	ERCC3	HCCS	KRT6B	GPC4	MPLKIP	LAMB3	ODC1	KRT6A	CDSN	IRF6	UMPS	ARHGAP31	ZMPSTE24	DSP	CAST	ATR	CTSK	ALOXE3	CD28	GJA1	NFKB2	SMARCA4	PEX7	KRT16	CTC1	EVC2	GRHL2	GTF2E2	ARX	TSC1	COL7A1	FOXN1	KRT14	NHP2	CRKL	LMNA	FTL	ALOX12B	POGLUT1	ERCC2	KDSR	HPGD	GNAO1	TGM1	CARD14	PLAG1	ZSWIM6	SLC25A24	PLEC	NOP10	SOX18	EDA	SMARCB1	CASR	EFNB1	GJB6	CENPT	SIN3B	SREBF1	PKP1	SHANK3	TNFRSF1B	WDR73	BCL7B	ARID1A	KIF1A	PPM1D	TRAF6	DSG1	WNT7A	AP1S3	HRAS	DYNC2LI1	DHX37	KRT86	MBTPS2	KCNN3	FLT4	NEPRO	ATP2A2	SOX11	FLNA	KCNA1	TARS1	PIGV	TELO2	ARID1B	WDR35	PITX1	IFT43	SMARCE1	IFNG	KCTD1	RAB7A	PIGN	NXN	RAB3GAP1	METTL27	SLCO2A1	NOG	NSD2	RAB3GAP2	STAMBP	COL11A1	RPS6KA3	STIM1	DVL1	AKT1	FTO	FIG4	ATP6V1B2	IKBKG	AIRE	ENG	SPEN	PIGF	CAMK2G	KRT83	KRT81	INSR	PRKD1	GLI3	TRRAP	ELN	WNK1	WNT10A	DLL4	USB1	FERMT1	EGFR	IL17RA	KCNH1	RFC2	LAMA3	INPPL1	ITGA6	SMARCD2	GJB2	LIG4	COL14A1	PRR12	COL17A1	BICRA	FKBP6	PIGB	CDH1	SLC39A4	HMGA2	SOST	NSD1	MACROH2A1	KRT17	ATL1	SMARCD1	PGAP2	OTUD5	RETREG1	SDR9C7	MVK	CDIN1	PLAGL1	BLM	SIK1	KDF1	BUD23	AAGAB	TERC	ANAPC1	ZBTB20	SATB2	DNAJC30	FOXP3	GRM7	TFAP2A	ACTL6B	RNU4ATAC	PNKP	DLX3	DMXL2	SIAH1	TET2	ABCA12	WRAP53	TTC7A	CASK	PLOD3	SCN1B	VPS37D	POC1A	ECE1	MAF	WNT5A	RNF13	FGFR2	ADAM17	LMX1B	PPP1CB	FGFR1	PTDSS1	CYP4F22	EDAR	FZD6	SMARCA2	TRPS1	IL11RA	LIPN	KIF11	UROD	ZNF462	PEPD	ACAN	NTRK1	KRT74	HYMAI	COX7B	TMEM222	VEGFC	PNPLA1	PIGO	RLIM	DLK1	UBE2A	HLA-B	FLNB	IFIH1	TAF1	SMARCAD1	TREX1	NDUFB11	ANGPT1	AFF4	PHYH	BMP4	PORCN	LRP4	PEX1	FGF9	HFE	MLXIPL	STK11	SRY	STING1	ARID2	KRT9	NEUROD2	IFT122	RIPK4	AIP	MCTP2	SASH1	TBC1D24	APC	CTBP1	GJC2	CLEC7A	LIMK1	IGF2	COL11A2	KANK2	GSN	POFUT1	CSTA	VAC14	KRT1	ALG12	POP1	TBX3	MMP1	CDKL5	CCDC32	IL17RC	ANTXR1	DSG4	PIGL	BMPR1B	SUZ12	GLI1	ACTG2	NOTCH2	IL17F	MYOF	FGFR3	DLX5	HUWE1	LPAR6	CTSC	PSENEN	PARN	CDKN1C	BRAF	ORC1	NIPAL4	STAT3	FZD2	SOX4	SETD2	SMARCC2	FHL1	IHH	NPM1	PEX6	AP1B1	PIGQ	GDF5	BMP2	GJB3	B3GALT6	WASHC5	NPR2	KLHL24	FGF10	SHOC2	POLR3A	KIF15	SHOX	GNA11	GTF2H5	NOTCH1	STXBP1	NSUN2	KRT85	RAF1	UBR1	MAPK1	WDR19	CSTB	TBL2	TSPAN7	RSPO1	TRAF3IP2	EXT2	NSDHL	PQBP1	FAM111B	PRKACA	PDE4D	RTL1	APC2	ALG3	DSC3	TRIM8	ADNP	CPLX1	FGFRL1	SLC35D1	SCN9A	HHAT	DPYD	DPH1	MAP2K1	TMEM270	JUP	NECTIN4	RECQL4	PPP2R5D	DPF2	OFD1	PGAP3	CPT2	SLURP1	STX1A	DNAJC21	SIN3A	DVL3	BAZ1B	CERS3	MEG3	RNF113A	HGD	KRAS	TCTN3	LBR	POMP	HLA-C	NLRP1	RSPO4	ITGA3	TBX4	GPR101	ATP6V0A2	BCR	GTF2IRD2	CCDC22	MTX2	FOXC2	CYB5R3	GJB4	LETM1	HEPHL1	DST	BANF1	IFT52	SULT2B1	HOXC13	SF3B1	IL36RN	MAP2K2	PTEN	BMPER	HOXA13	CD151	ZMYM2	PIGA	SETBP1	PIGY	LORICRIN	ACVRL1	FUCA1	BHLHA9	EIF5A	PIGP	CLIP2	RBPJ	CYB5A	PRKAR1A	SLC25A22	GTF2IRD1	CWC27	ADAMTSL2
HP_CONCAVE_NAIL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONCAVE_NAIL	MPLKIP	GTF2E2	LMX1B	TRPS1	HRAS	MSX1	ERCC2	GTF2H5	EDA	KRT1	TARS1	HOXC13	PLCD1	ERCC3	RNF113A
HP_ABNORMALITY_OF_THE_LARYNX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_LARYNX	SMAD4	COMT	KAT6A	PRPH	RPL10	XPNPEP2	GIPC1	HYLS1	KANSL1	TREM2	ASAH1	APC	MT-CYB	EIF4A3	HSPG2	ARSL	CTSK	C2CD3	LAMA3	KRT5	OPTN	PSAP	HDAC4	AHDC1	LRP12	AMER1	TBX1	PUF60	INTU	PRRX1	TBX3	PRMT7	CHMP2B	MSH6	GLE1	FIG4	SEMA3E	WRN	ARVCF	CREBBP	HOXD13	FGFR3	UFD1	TAF1	IDH1	FRAS1	NEK1	SLC26A2	ZNF699	MID1	PFN1	RALGAPA1	GMNN	HIRA	SERPING1	CASR	MSH2	POR	FREM2	LAMC2	ATP6V1E1	GALC	SCN4A	FGF10	TONSL	SPTBN1	MLH1	LAMB3	TBK1	NOTCH2NLC	RAI1	NIN	HAAO	DYNC2I1	SETBP1	EPHA4	MAP3K7	DCTN1	BRF1	FGFR2	CHD7	DAO	RAF1	COL12A1	MKS1	PORCN	SEC24C	MDM2	RSPO1	WNT3	LTBP4	MATR3	PKDCC	CFAP410	RTL1	DHCR7	PLG	DDRGK1	GLI3	VCP	SPECC1L	RSPO2	NFIX	TAF15	VPS13B	FERMT1	PON1	AFF4	SOD1	GABRG2	ATXN2	LONP1	SYT1	DYNC2I2	UBE3B	MGP	GLT8D1	MYMK	PON3	SCARF2	ANO3	CHEK2	SNIP1	MEG3	NLRP1	PTH1R	MEIS2	CAT	TCTN3	EFL1	HNRNPA1	KRT14	KRAS	PON2	LBR	KIF7	PLP1	LTBP3	HS3ST6	PCNT	ADARB1	JMJD1C	FLNB	PPARGC1A	SIAH1	FUS	CHCHD10	BTD	SOX9	EDN1	FOXE1	KAT6B	EP300	SATB2	DLK1	C9orf72	LMNA	ASXL3	NEFH	KIF22	ANXA11	GRIN2A	CDKN2A	TP53	FLNA	CCNF	POLR3A	TSPYL1	SOX4	ANG	SF3B4	UNC13A	IFT80	ORC6	SQSTM1	DYNC2H1	RREB1	GRIP1	VAPB	EXTL3	GP1BB	SRPX2	ERBB4	KCNMA1	TARDBP	CAPN15	UBQLN2	LRP4	WDR35
HP_LARYNGOMALACIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARYNGOMALACIA	PKDCC	RTL1	SIAH1	COMT	KAT6A	RALGAPA1	RPL10	FGFR2	MEG3	GMNN	HIRA	HYLS1	SOX9	POR	KANSL1	KAT6B	NFIX	SATB2	VPS13B	DLK1	ATP6V1E1	TBX1	GALC	APC	AFF4	HSPG2	CTSK	LMNA	KRT5	PSAP	ASXL3	SYT1	HDAC4	AHDC1	POLR3A	UBE3B	SETBP1	EP300	SOX4	TBX3	BRF1	SCARF2	PRMT7	CHD7	RAF1	COL12A1	ORC6	SEMA3E	MEIS2	WRN	ARVCF	SEC24C	RREB1	TCTN3	EFL1	KRT14	HOXD13	CREBBP	GP1BB	UFD1	KCNMA1	IDH1	KIF7	LTBP4	LRP4	ZNF699	PCNT	ADARB1	JMJD1C
HP_LARYNGEAL_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARYNGEAL_STENOSIS	FLNB	FERMT1	SMAD4	GRIP1	MYMK	EXTL3	LAMA3	SLC26A2	LAMB3	KIF22	DDRGK1	FRAS1	FREM2	LAMC2
HP_VOCAL_CORD_PARESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VOCAL_CORD_PARESIS	SLC5A7	GDAP1	TRPV4	LONP1	GIPC1	JAG1	SH3TC2	NOTCH2NLC	MATR3	MFN2	PRX
HP_VOCAL_CORD_PARALYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VOCAL_CORD_PARALYSIS	NF1	SDHC	DKK1	RET	TMEM43	LONP1	MLXIPL	GIPC1	SBF2	SDHAF2	MATR3	PRX	SLC5A7	FHL1	SLC25A11	ATXN3	MAX	VHL	FH	JAG1	SH3TC2	NOTCH2NLC	PMP22	GDAP1	DCTN1	MDH2	SYNE1	SDHB	TRPV4	SETBP1	ELN	TRAPPC12	POLA1	KIF1B	DNMT3A	SDHA	MFN2	DLST	MYCN	TMEM127	SYNE2	EPAS1	TRIM2	LMNA	EMD	SDHD	SLC52A3	ZNF699
HP_SUBGLOTTIC_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBGLOTTIC_STENOSIS	TBX3	GRIP1	EFL1	MAP3K7	TONSL	AFF4	FRAS1	FREM2	LTBP3	SNIP1	NIN	FLNA
HP_ABNORMALITY_OF_THE_VOICE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_VOICE	FAM111A	SMAD4	NTNG2	AR	COMT	MYO9A	AGRN	ZMIZ1	ECM1	PYROXD1	DDRGK1	TRMT1	MAPT	NDN	GIPC1	SRPX2	POMT2	SDHA	ATP5F1A	MT-ND3	PREPL	GTF2I	SNRPN	EZH2	NCF1	HSPG2	SLC25A11	ATXN3	DOCK3	KRT5	TBP	MED27	EIF4H	JAG1	CYP27A1	ERCC3	AMER1	SYT2	KRT6B	TTC26	MPLKIP	BIN1	LIFR	SLC25A1	UBB	IGHMBP2	ZMPSTE24	HTT	DNMT3A	NDNF	KANSL1	SLC5A7	DLST	RAPSN	MYCN	CHD7	COLQ	GTF2E2	ACTL6B	DLG1	SYNE2	LMNA	FGFR1	ATG7	GALT	EIF2AK2	EMC10	MYH14	SLC18A2	LAMA2	RNASEH2C	DPYSL5	DUSP6	IFIH1	SMC3	SYNJ1	MFN2	PTPN23	GNRHR	TRIP12	TPM3	ITGA7	EDA	EED	IRF6	GRIN2A	COQ9	SMARCAL1	SBF2	SDHAF2	PLEC	SNCA	MAPK8IP3	NECTIN1	KCNMA1	NALCN	PHF8	BCL7B	HS6ST1	SLC3A1	CRYAB	SPTBN1	ASPA	HRAS	LAMB3	FBXW11	WDFY3	ACAN	RAI1	ITPA	MKRN3	BPTF	LEMD3	MYH7	MED12	TCF20	NIPBL	TP63	TBX1	POLD1	NSMF	MAGEL2	PPM1B	TARS1	POLA1	FLRT3	TONSL	MYOT	KIF1B	SMS	NOTCH3	MAP3K20	SEMA5A	ARID1B	MSX1	PIGN	BCORL1	RLIM	ZDHHC9	FGF8	METTL27	NPAP1	SOX10	CWF19L1	ACTA1	MT-TW	ZFYVE26	TRIP4	FKTN	CCDC32	SNRPB	IQSEC2	FIG4	TUBB4A	MYT1L	SMC1A	ESS2	FLNA	VHL	OCA2	TGM6	TPM2	MT-ND1	KCTD17	GPC3	FBXO7	IDS	GPC4	DYNC1I2	TACR3	ALDH18A1	LONP1	BAG3	CADM3	RAD21	NLRP3	DCC	ADAR	SPEG	ELN	RYR1	SIL1	GLUD2	SLC12A2	TWNK	RNF6	RFC2	B3GALNT2	MORC2	UBR7	KMT2E	RBBP8	PROKR2	LTBP3	DCTN1	MGP	GNAL	FKBP6	BRD4	TSHR	GRIA4	COL6A3	HPDL	COQ2	GBA	KRT17	DGUOK	SELENON	MT-TK	RET	FKRP	TRH	DUOX2	NLRP1	FOXP1	KCNK9	DGCR2	VPS13B	FBN1	TSHB	CCDC141	KRT14	COL13A1	BUD23	NONO	PI4KA	PANK2	TK2	SDHD	REV3L	MYH3	DNAJC30	PODXL	SDHB	TFAP2A	PRKRA	TCF7L2	PCNT	PUS7	SDHC	SLC2A3	VPS13A	NR4A2	FLII	KISS1R	SYNCRIP	GFPT1	GNAS	GIGYF2	VPS37D	POC1A	THRA	DEAF1	CRLF1	PRX	RARS1	AGO2	IGF1R	HACD1	B4GALNT1	EIF4G1	RNF2	POMGNT1	SNORD115-1	MT-ND6	SYNE1	MECP2	NTNG1	EXOSC9	KISS1	TSPYL1	TAC3	TRPV4	ADGRG1	CNOT3	DLK1	PROK2	GHR	MDM2	C1R	TMEM127	PLXND1	STX16	MATR3	KAT8	AFF2	SETD1A	FTL	GP1BB	THAP1	RNASEH2A	GRHL3	SNORD116-1	RIN2	PQBP1	SERPINH1	WDR11	GNPTAB	NF1	TTN	MLXIPL	POLG	HDAC8	ABAT	FGF17	XRCC4	DNAJC6	KDM4B	AIP	MGME1	BRAF	ASAH1	EIF4A3	PSMD12	MED13	DGCR6	LAMA3	LIMK1	SPRY4	CAMKMT	OPA1	CNOT2	CLCN3	CHRNE	LRP12	GNE	PNPO	MYPN	GMPPA	NEFH	DLX4	KRT6A	FEZF1	WRN	ARVCF	LRRK2	TNRC6B	SUZ12	SNAP25	ALPL	NOTCH2	SNCAIP	UFD1	EMD	SEC24D	DNAJC13	FOXP2	ZNF699	TANC2	PAX8	DKK1	RNASEH2B	LAMB2	DDX6	HIRA	BCAS3	PPP1R15B	SHOC2	CHAT	FHL1	BSCL2	SEMA3A	MADD	LAMC2	PALS1	ARHGAP29	AOPEP	OCRL	ACTL6A	NOTCH2NLC	GDAP1	MDH2	SETBP1	UPF3B	IL17RD	AGA	GTF2H5	GGPS1	MYL2	RAF1	ANOS1	DLEC1	SEC24C	TBL2	MAPK1	ERCC2	ALDH4A1	CHRNA1	TTC19	PWAR1	TRIM37	IL1RAPL1	CIZ1	SPG7	TOR1A	HS2ST1	ANKRD17	SAMHD1	ATXN8OS	RTL1	STAG2	MT-TL1	CDC73	WWOX	VPS11	SRCAP	TMEM43	POMT1	SLC26A2	SRD5A2	HMBS	ATP6AP2	PRPH	SPECC1L	SATB1	MT-TT	GMPPB	TMEM270	VAMP1	MEGF10	GABRG2	SCN4A	ATP6V0A2	HESX1	DNAJB2	PMP22	SIM1	KMT2B	STX1A	PTPN11	P4HB	BAZ1B	GNAI3	MEG3	FMR1	RNF113A	BMP4	SLC18A3	SLC19A2	INPP5K	LMNB1	GNRH1	LMBRD2	MT-TV	KRT16	SOD1	MT-ATP6	SIN3A	HTRA1	GPR101	JMJD1C	GARS1	GTF2IRD2	SH3BP2	FRRS1L	SVBP	MTX2	ATXN2	ADH1C	BLM	SH2B1	AP4E1	ERCC4	MT-ND2	TRHR	HERC2	SPART	TRPS1	LARGE1	MT-ND4	TRMT10A	MAX	PWRN1	VPS35	FH	WASF1	SH3TC2	SEC31A	FUZ	CTNND2	TRAPPC12	NSD1	STAT5B	PLCB4	HUWE1	TGFBR2	MT-ND5	DGCR8	PPP1R21	RREB1	EPAS1	CLIP2	TRIM2	ORC4	TRAPPC4	GTF2IRD1	SLC52A3	UNC45B	TREX1	CAPN15	JARID2	ADAMTSL2	NEU1	SERPING1	CDH1
HP_HOARSE_VOICE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HOARSE_VOICE	RTL1	GPC3	CDC73	IDS	MLXIPL	GPC4	ECM1	DDRGK1	SLC26A2	ADAR	SPECC1L	AIP	TSHB	ELN	ASAH1	KRT17	TMEM270	GTF2I	MYH14	EZH2	NCF1	AFF2	RFC2	LAMA3	KRT5	LIMK1	EIF4H	GNPTAB	LTBP3	GNE	KRT6B	TPM2	FKBP6	LIFR	STX1A	TRH	KRT6A	BAZ1B	DUOX2	MEG3	NLRP1	RAI1	FBN1	SLC19A2	TPM3	SUZ12	KRT14	BUD23	SDHD	RNASEH2C	DNAJC30	KRT16	IFIH1	GPR101	SDHC	SELENON	ITGA7	GTF2IRD2	PAX8	RNASEH2B	FLII	EDA	EED	SDHAF2	VPS37D	TRHR	SHOC2	THRA	DEAF1	MATR3	SPART	LAMC2	BCL7B	HACD1	SMS	SPTBN1	HRAS	LAMB3	ACAN	LEMD3	GDAP1	TRPV4	AGA	DLK1	NSD1	MYL2	MFN2	MAP3K20	ARID1B	PIGN	C1R	METTL27	IQSEC2	TBL2	CLIP2	MAPK1	ACTA1	RNASEH2A	GTF2IRD1	TREX1	FLNA	SERPING1	SAMHD1
HP_NASAL_SPEECH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NASAL_SPEECH	MYH3	PREPL	NTNG2	COMT	SRCAP	DYNC1I2	MYO9A	AGRN	ZMIZ1	PYROXD1	BAG3	CADM3	TRMT1	NDN	SRPX2	SNRPN	SATB1	KDM4B	MGME1	TBX1	VAMP1	SLC12A2	PSMD12	MEGF10	MED13	DOCK3	DGCR6	ATP6V0A2	CAMKMT	MED27	DLX4	CNOT2	CLCN3	HTT	UBR7	TFAP2A	LRP12	KMT2E	AMER1	MYPN	SYT2	MGP	IRF6	LIFR	SLC25A1	GMPPA	SLC5A7	GRIA4	UBB	HPDL	KANSL1	DGCR2	BMP4	SLC18A3	ARVCF	ACTL6B	DLG1	TNRC6B	SNAP25	SLC18A2	MAGEL2	COL13A1	ATG7	MYT1L	UFD1	EMC10	NONO	LMBRD2	NECTIN1	DPYSL5	TCF7L2	TANC2	PCNT	JMJD1C	PUS7	PTPN23	TRIP12	TPM3	SVBP	DDX6	SYNCRIP	GRIN2A	HIRA	BCAS3	SLC3A1	PLEC	SHOC2	HERC2	CHAT	MADD	MAPK8IP3	CRLF1	KCNMA1	MATR3	NALCN	PHF8	PALS1	ARHGAP29	AGO2	MYOT	MSX1	SMS	PWRN1	FBXW11	WDFY3	RNF2	WASF1	ACTL6A	MKRN3	BPTF	SNORD115-1	MED12	NTNG1	TCF20	SELENON	TP63	UPF3B	SPTBN1	PPM1B	CNOT3	HUWE1	BCORL1	DGCR8	RLIM	SEC24C	ZDHHC9	RREB1	KAT8	NPAP1	SETD1A	GP1BB	GRHL3	SNORD116-1	TRAPPC4	UNC45B	PWAR1	CCDC32	SNRPB	IL1RAPL1	IQSEC2	PQBP1	SPG7	ESS2	JARID2	HS2ST1	ANKRD17	TPM2	CDH1
HP_WEAK_CRY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WEAK_CRY	TTC26	EXOSC9	FUZ	SLC25A1	SYT2	SIM1	TPM2	MYO9A	AGRN	CHRNE	LAMB2	SLC5A7	GFPT1	GGPS1	IGHMBP2	COQ9	ACTA1	SELENON	CHAT	FKTN	SNRPN	SPECC1L	RAPSN	PPP1R21	ASAH1	VPS13B	SLC18A3	COLQ	VAMP1	SNAP25	COL13A1	RYR1	LAMA3	ASPA	CHRNA1	TRIP4	LAMA2	MAGEL2	OPA1	CRYAB	MYH7	TPM3	NIPBL
HP_HOARSE_CRY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HOARSE_CRY	ASAH1	RTL1	TSHB	PAX8	LAMA3	DLK1	LAMB3	DUOX2	SPECC1L	MEG3	PIGN	LAMC2
HP_DYSPHONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSPHONIA	KCTD17	NF1	MLXIPL	VPS11	POLG	MYO9A	RET	AGRN	ALDH18A1	HMBS	PRPH	SPEG	ELN	MGME1	SRPX2	ASAH1	RYR1	TMEM270	GTF2I	SIL1	SDHAF2	VAMP1	NCF1	TWNK	HSPG2	SLC25A11	RFC2	VHL	LIMK1	DNAJB2	EIF4H	CYP27A1	PRKRA	LRP12	ERCC3	MPLKIP	GNAL	BIN1	FKBP6	SLC25A1	KMT2B	STX1A	SLC5A7	COL6A3	NEFH	COQ2	DNMT3A	DGUOK	BAZ1B	DLST	KCNK9	RNF113A	AR	SLC18A3	SDHC	GTF2E2	SNAP25	INPP5K	COL13A1	THAP1	BUD23	LMNB1	FTL	PI4KA	PANK2	DNAJC30	SOD1	SDHB	HTRA1	NONO	VPS13A	GTF2IRD2	SYT2	EDA	GNAS	SBF2	VPS37D	CHAT	TTN	DCTN1	RARS1	BCL7B	B4GALNT1	CRYAB	MAX	FH	SEC31A	MDH2	FUZ	ADGRG1	GTF2H5	TARS1	KIF1B	SDHA	NOTCH3	MFN2	TUBB4A	TMEM127	METTL27	STX16	EPAS1	TBL2	CLIP2	ERCC2	ZFYVE26	SDHD	GTF2IRD1	TTC19	CIZ1	FIG4	CAPN15	NEU1	TGM6
HP_HIGH_PITCHED_VOICE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_PITCHED_VOICE	FAM111A	TTN	SELENON	AR	MTX2	SMARCAL1	BLM	POC1A	ERCC4	PPP1R15B	BSCL2	XRCC4	TRIM37	MED12	IGF1R	HSPG2	TRMT10A	MORC2	ITPA	RBBP8	SYT2	POLD1	CTNND2	ZMPSTE24	STAT5B	P4HB	GHR	SRCAP	SEMA5A	ARID1B	FMR1	MDM2	MYH7	RIN2	PCNT	ORC4	SEC24D	LMNA	ADAMTSL2	SERPINH1
HP_WEAK_VOICE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WEAK_VOICE	ATXN8OS	GARS1	NR4A2	MAPT	POLG	ATXN2	TONSL	ADH1C	ATP6AP2	DNAJC6	MT-TT	MATR3	DCTN1	GBA	HSPG2	GLUD2	AOPEP	SNCAIP	FTL	SLC52A3	TBP	TK2	TRIM37	PODXL	SYNJ1	SYT2
HP_PREMATURE_BIRTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_BIRTH	PNPO	RTL1	EOGT	COL5A1	PEX1	LMOD3	GAS1	HDAC8	FGF8	RAD21	BSND	SLC12A1	HYLS1	BRAF	GATB	THOC2	ALG8	ABCB4	PEX11B	ESCO2	ABCA12	NIPBL	KLHL41	FIG4	MAP2K1	CNOT1	PEX3	SMARCAL1	PEX10	PEX13	LAGE3	TDGF1	SERPINE1	ZMPSTE24	STAT2	QRSL1	ABCA3	PEX5	NR1H4	CRB2	TP53RK	SLC27A4	COL1A1	NUP133	ATP8B1	PEX26	ZIC2	ALG12	HBB	NEB	RPL10	BRD4	SMPD4	SLC16A2	GALK1	IGHMBP2	KCNJ1	GATC	CLCN7	NODAL	WDR4	TGIF1	TPRKB	DOCK6	TRIP4	MEG3	FGFR1	RPS19	CLCNKB	COL3A1	PTH1R	ACTA1	B4GALT1	KRAS	LMNA	ALB	ADAMTS2	TSHR	NDUFB3	HOXD13	FOXH1	CRKL	CYP11A1	TMEM70	KIF7	COL5A2	NUP107	ZNF699	SMC3	FLNB	LRP5	RNU4ATAC	MTM1	FLI1	BCR	SARS2	FZD4	PEX14	OSGEP	MAGED2	FLVCR2	RALGAPA1	TPM3	NLRP3	ARHGAP31	ABCB11	ASCC1	STRADA	PEX2	PTCH1	GBA	PEX6	PEX19	FDXR	HRAS	COL1A2	MAP2K2	MYH7	DHPS	SIX3	SFTPB	DLL4	GLI2	CDON	SLC26A3	SLC17A5	PEX12	KLHL40	NOTCH1	SF3B4	SATB1	MED12	DLK1	SUFU	SHH	YARS1	AIMP1	COL11A1	MAPK1	DLL1	WDR73	MUSK	DHCR7	RBPJ	NDUFB11	CLCNKA	DISP1	PEX16	SMC1A	SFTPC	FBN1	NDP
HP_BREECH_PRESENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BREECH_PRESENTATION	ERGIC1	MYH3	NEB	ORC1	LMOD3	SLC26A2	ACTA1	KLHL40	KDM3B	PTPN23	KLHL41	SON	COL1A1	COL1A2	MKS1	DHCR7	PEX1	TPM3	SHPK	RYR1	ASXL3	OPA1	MYPN	CRTAP	TPM2	ZNF699	KBTBD13
HP_MITRAL_VALVE_PROLAPSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MITRAL_VALVE_PROLAPSE	SACS	GANAB	COL5A1	PLOD1	TTN	MLXIPL	POLG	B3GALT6	KRAS	ANK1	FBN1	SMAD4	ELN	BRAF	VPS13B	ENPP1	TMEM270	GTF2I	BCOR	NCF1	ABCC6	TAB2	RFC2	FMR1	LIMK1	FBN2	XYLT1	EIF4H	DCHS1	HCCS	B3GAT3	MYPN	PKD2	COL1A1	VWF	MMP2	FKBP6	RYR1	HCN4	STX1A	COL2A1	FIBP	PTPN11	DSE	LZTR1	ALG9	ZNF469	BAZ1B	COL3A1	SLC29A3	COL1A2	TNXB	FLNA	BUD23	SLC6A6	COL5A2	DNAJC30	CHST3	BICC1	PLD1	TPM3	GTF2IRD2	SELENON	PCGF2	HNRNPH2	NF1	AEBP1	VPS37D	RPL5	BCL7B	ATP6V1E1	SKI	HRAS	LMNA	TGFBR1	CBS	PKD1	FMN2	NPR3	DNAJB11	TGFB2	IPO8	CLIC2	XYLT2	DZIP1	COX7B	MED12	SPRED1	RAF1	MMP14	SMAD3	MFAP5	PRDM5	SH3PXD2B	MYH7	NDUFB11	METTL27	TBL2	CLIP2	MAP3K7	MAPK1	TGFBR2	EXTL3	BRF1	GTF2IRD1	LTBP3	TPM2
HP_CONGESTIVE_HEART_FAILURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGESTIVE_HEART_FAILURE	NF1	ELN	MT-TW	TTN	MLXIPL	ALDH18A1	CLIC2	PLOD1	TBX20	NKX2-5	SDHA	MT-TL1	HBA1	HBB	MT-ND5	GTF2I	VCL	CP	MT-CYB	MT-TV	NCF1	SLC25A11	SCO2	SURF1	MYH7	MAX	SMARCAL1	IRF5	NPPA	FGFR3	EYA4	VHL	HADHA	LIMK1	XYLT1	EIF4H	VPS33A	TCF4	GNPTAB	PSEN2	PSMB8	FBLN5	HADHB	TPI1	HNRNPA2B1	TAFAZZIN	MT-TK	DNMT3A	LMNA	COX16	TF	TRIP4	DLST	DNAJC19	WRN	CCN2	TPM1	PPARG	VCP	RASA1	STRADA	LTBP1	PLN	DOLK	SMAD4	TRPM4	CAVIN1	TMEM70	GAA	BCHE	SLC25A26	PHYH	CASR	PRDM16	SCN5A	AGPAT2	HBA2	SLC25A3	BCL7B	SDHB	COL1A1	MYL3	SPTBN1	ABCC6	MT-ND6	ALMS1	ACVRL1	NDUFAF1	MDH2	MT-CO3	SLC17A5	GNA11	FXN	GATA4	XYLT2	CITED2	STAT1	NDUFB8	SLC19A2	KIF1B	CAV1	TNNI3K	FLNA	PRKAR1A	DES	GTPBP3	TLL1	MYPN	TMEM127	JUP	BAG3	METTL27	GJA1	ACAD9	TBL2	ATXN7	NDUFB11	NDUFAF3	TRIM37	TNNI3	MYD88	MT-TF	ENPP1	ENG	EFEMP2	FGD1	SLC22A5	RET	MT-CO2	SDHD	DSP	CAV3	ACTN2	ADCY5	SCN4A	TMEM270	SNAP29	SDHAF2	RBM20	RAB3GAP2	MT-TC	RFC2	CCR6	SEMA4D	SCO1	PNPLA2	HJV	FKBP6	CDH23	STX1A	GLA	MAPRE2	MYH6	GDF2	MT-CO1	PRKAG2	HFE	BAZ1B	RPS19	RYR1	SDHC	PEX7	KCNJ5	BUD23	ATP6V1A	GLB1	LRPPRC	DMD	LDB3	DNAJC30	ACTC1	SLC2A10	HNRNPA1	TMEM43	GATAD1	ELAC2	ATP5F1A	SGCD	GTF2IRD2	BMP2	TET2	SELENON	PPA2	TTR	FOS	EPHB4	VPS37D	GATA6	GPR35	MST1	TNNT2	SCN1B	IKBKG	SF3B1	COL1A2	CACNA1S	FH	FBN1	MT-TE	MT-TS2	TUBB	NSMCE2	MECP2	MTTP	NDUFS2	BSCL2	PTEN	MYSM1	DTNA	EPG5	IFIH1	HAMP	MT-TQ	COG7	CEP19	IDS	EPAS1	CLIP2	FLNC	AGGF1	AFF4	GTF2IRD1	HLA-DRB1	MT-ND1	MYLK2	ADAMTSL2	PSEN1
HP_TETRALOGY_OF_FALLOT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TETRALOGY_OF_FALLOT	EOGT	GAS1	MLXIPL	COMT	CITED2	RAD21	PLXND1	GATA4	ARID2	SKIV2L	RAD51	GATA6	SALL4	RBM8A	NKX2-5	FIG4	GTF2I	FANCC	NKX2-6	NCF1	ROR2	GDF1	NR2F2	SPECC1L	DGCR6	LIMK1	EIF4H	FANCF	NIPA1	VAC14	ERCC4	TBX1	INTU	FANCD2	PAH	RBM10	PRKCZ	DDX59	TUBG1	ARHGAP31	NODAL	RRAS2	UBE4B	SMARCA4	SEMA3E	ARVCF	KDR	CHD7	UFD1	ALX3	FANCL	CHD4	SOX4	HIRA	JAG1	SMARCB1	NOTCH2	PALB2	MYRF	KCNAB2	SMARCC2	RPL5	CACNA1C	MAD2L2	ZEB2	FANCA	BCL7B	WASHC5	PTCH1	CHUK	FANCG	ARID1A	FOXF1	MMP23B	SIX3	CDON	TTC37	SOX11	PDPN	TMEM94	NOTCH1	SMARCE1	SUFU	PRDM16	ARID1B	TAB2	DACT1	SLC37A4	NXN	SEC24C	METTL27	RNU4ATAC	TBL2	PIGN	FLT4	FANCB	DISP1	FANCI	WT1	ESS2	FANCM	HSPG2	ALX1	FGF8	SPEN	CHRM3	RERE	GATA5	EHMT1	ELN	TMEM270	BRIP1	RFC2	COX7B	DPF2	TDGF1	SLX4	ZIC2	BICRA	FKBP6	STX1A	NIPA2	PIGL	TGIF1	SMARCD1	SRCAP	DOCK6	HIBCH	BAZ1B	RAB23	FGFR1	ZFPM2	PUF60	DGCR2	CASZ1	FOXH1	BUD23	UBE2A	RAD51C	FANCE	DNAJC30	JMJD1C	GTF2IRD2	CCDC22	FOXC2	VPS37D	UBE2T	STRA6	MKKS	SALL1	LUZP1	SLC35A2	DLL4	CXCR4	GLI2	GJA5	TMEM260	SF3B4	RFWD3	SHH	GABRD	SKI	RPL11	DLL1	DGCR8	BRCA2	XRCC2	RREB1	DDX11	CLIP2	RBPJ	GP1BB	GTF2IRD1	CDK8	BRAF	BRCA1	PQBP1
HP_ABNORMAL_MYOCARDIUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MYOCARDIUM_MORPHOLOGY	IL12A-AS1	LMNA	IL12A	SLC25A4	TNNC1	GSN	UQCRFS1	TXNRD2	CDKN1C	GPC3	COX7B	FAH	YARS2	DES	FANCC	VCL	ACTC1	TNNI3	EYA4	SOS1	TMPO	EIF4H	PSEN2	TGFB1	ERCC3	AIP	FANCF	NDUFA10	ERCC4	PEX7	FANCD2	TAFAZZIN	C1QBP	RNASEH1	PLN	MYH7	ERAP1	TWNK	MT-TK	TRIP4	PRDM16	GMPPB	PYGL	BRCC3	DLD	MT-CO1	MT-ND1	PCCB	DEF6	POLG	ACADVL	TREX1	MLX	NDUFAF3	STAT4	PEX5	ACADS	IFIH1	PHYH	FLNC	NDUFS8	MAD2L2	SDHD	SLC25A3	FANCA	ALG3	MT-TF	SMC1A	PET100	TKFC	ATP1A3	CRYAB	MYBPC3	HRAS	ABCC6	DSP	LAMB3	SGSH	ALMS1	NDUFAF1	ITPA	MMACHC	NDUFB10	D2HGDH	RMND1	NAXD	TARS1	POLG2	MEFV	GTPBP3	SCN5A	MYPN	XK	MT-TL1	GNE	SUFU	TIMMDC1	METTL27	FHL1	JUP	FHOD3	FTO	HBB	FIG4	FASTKD2	DMD	IDS	MT-TT	BAG3	COX14	NDUFV2	HCCS	POMGNT1	PEX11B	ADAR	MIPEP	NDUFA4	MYOZ2	NDUFAF4	ADCY5	ELN	POMT1	GBE1	GBA	KCNH1	LAMP2	ATAD3A	SLC4A1	MYH6	TNFRSF1A	TTR	TERT	NDUFS7	NDUFAF2	FKBP6	CLPB	RAF1	MIB1	POMK	PEX6	HADH	ATP5MK	FKRP	BUD23	ATP6V1A	WFS1	NFS1	NDUFA12	PMM2	MYOCD	TCAP	FANCE	DNAJC30	SPTB	SLC2A10	RNU4ATAC	TFR2	ELAC2	IDUA	VPS13A	KLHL41	VPS37D	FOXRED1	PEX14	SGCD	DSG2	TAPT1	C4A	PPP1CB	COA6	MYOT	PIGT	DNAJC21	CPT2	SLC1A3	MT-TE	MT-ND6	ACTA1	PEX13	NF1	ANK1	GPX4	ECHS1	TNNT2	XRCC2	NDUFB11	MT-ATP6	GLA	RNASEH2A	ADA2	SLC19A3	COX15	SGCA	BRCA1	DPM3	TAF1A	PARS2	CSRP3	TPI1	NDUFB3	TPM2	KRAS	MYL2	KCNJ11	PEX1	LDB3	BRAF	SCO2	KIF20A	SLC40A1	LAMA3	SDHA	GLB1	LRP12	KBTBD13	QRSL1	MT-TW	ACAD8	INSR	PRKCZ	CENPE	UCP2	HNRNPA2B1	WARS2	SLC25A20	LZTR1	NEXN	FHL2	TPM1	EMD	DOLK	UBAC2	PPCS	SGCB	TACO1	ADORA2A	TMEM70	VHL	RYR2	PALB2	KCNAB2	AGPAT2	HPS1	ANKS6	NUP107	MYL3	FANCG	TMEM126A	HLA-B	SRP54	MT-CO3	HADHA	ACTN2	PDPN	KLF1	PHKA2	XYLT2	CCR1	HGSNAT	NDUFB8	TMEM126B	UBR1	ERCC2	TPM3	TRIM37	DSC2	RTL1	HSPG2	NEB	TMEM43	PCCA	EPB42	NDUFS3	ACAD9	SPEN	CAP2	MAP2K1	RBM20	HSD17B10	COA8	SDHB	PEX12	MT-TS2	RBCK1	NDUFS4	CAV1	SPEG	SLX4	MRPS14	MAP2K2	POMT2	GATC	PRKAG2	TTN	BAZ1B	MEG3	COQ2	SLC19A2	MT-ND5	MRAP	MRAS	RMRP	ABCC9	MT-TV	ERCC8	GPR101	GATAD1	MEN1	LTBP4	NDUFS2	PPARG	FOS	COQ4	ERBB3	ATP1A2	JPH2	KCNJ8	DCAF8	UBE2T	MMUT	MRPS22	PEX10	PEX3	IDH2	MT-ND4	HAND2	NDUFA11	AARS2	TANGO2	KCNQ1	RYR1	GPC4	PEX26	NDUFA6	RFWD3	ERCC6	EPG5	NDUFS1	MC2R	CLIP2	FAS	GTF2IRD1	LAMA4	NUBPL	NDUFA2	RAD51	NDUFA13	KANSL1	MT-ND3	NDUFV1	FXN	GTF2I	PKP2	NCF1	KCNQ1OT1	NPPA	SUCLG1	AGK	ALG1	CASQ2	MPLKIP	LIAS	MT-TH	NDUFS6	DNAJC19	SURF1	GTF2E2	SYNE2	NEU1	MYO18B	LAMA2	FANCL	RNASEH2C	PHKG2	TSFM	CAVIN1	PTPN11	NAGLU	FKTN	SBDS	BCL7B	B2M	TRNT1	RIT1	CACNA1A	MT-CO2	AGL	TNNI3K	NAGA	SPTA1	COA5	HMGCL	FANCB	FANCI	SCARB2	SLC22A5	CHKB	MRPL3	HADHB	RERE	CISD2	GATA5	ENPP1	CLN3	TLR4	RAB3GAP2	RFC2	MICOS13	NDUFA9	SERPINE1	PNPLA2	OPA1	HJV	HCN4	SLC30A10	KCNJ2	HFE	SELENON	ABHD5	NONO	TK2	LRPPRC	RAD51C	IL12B	MCM10	BMP2	PPA2	IFNGR1	AHCY	FLAD1	HAMP	PDHA1	RPL3L	SYNE1	ARSB	ANKRD11	PEX19	BSCL2	DLK1	MYSM1	NBAS	SDHAF1	TGFB3	PDGFRA	IL23R	BRCA2	NEK8	BCS1L	MYLK2	SARDH	TTPA	GNPTAB	MLXIPL	NDUFA1	NDUFB9	NDUFAF5	IRF4	NRAS	XRCC4	RRM2B	MGME1	BOLA3	IGF2	LIMS2	LIMK1	XYLT1	STAR	ABCC8	VPS33A	VAC14	BBS2	TOP3A	TRDN	GYG1	UBE4B	ATP5F1E	VCP	NDUFAF8	SLC6A6	MT-ND2	GAA	RNASEH2B	SHOC2	CPT1A	PGM1	LAMC2	NNT	MMP23B	GUSB	COL7A1	MRPL44	ANO5	GTF2H5	PEX2	TBL2	ANKRD1	PEX16	SAMHD1	FANCM	GNS	NDUFAF6	CAV3	FBXL4	COX6B1	IKZF1	TMEM270	BRIP1	IL10	GJA5	STX1A	LIPT1	PSEN1	MMP1	MTFMT	RNF113A	CASZ1	USP9X	PYGM	GATA4	MT-TN	HNRNPA1	GTF2IRD2	KCNJ5	LUZP1	GYS1	KAT6B	KLRC4	SHMT2	JAG2	GABRD	SKI	DTNA	PPP1R21	COX10	ATP5F1D	ATPAF2	MTO1	MT-TQ	MLYCD
HP_HYPERTROPHIC_CARDIOMYOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTROPHIC_CARDIOMYOPATHY	HSD17B10	FLNC	RAF1	TPI1	NDUFB3	MLXIPL	NDUFA1	MT-ND6	SLC25A4	MYBPC3	NDUFAF4	NDUFB9	KRAS	NDUFAF5	UQCRFS1	MYL2	KCNJ11	RAD51	SLC25A3	NDUFA13	BRAF	HLA-B	TNNT2	NRAS	TXNRD2	ABCC9	AIP	FAH	MT-ND3	LAMP2	NDUFV1	YARS2	GTF2I	DES	FANCC	VCL	BOLA3	NCF1	SCO2	FOXRED1	ACTC1	TPM1	SURF1	MYH7	SDHA	LIMK1	SUCLG1	STAR	SOS1	OPA1	EIF4H	ABCC8	VPS33A	AGK	GNPTAB	LRP12	TGFB1	QRSL1	FANCF	HCCS	MT-TW	NDUFA10	ERCC4	ATAD3A	FANCD2	NDUFS2	UCP2	TAFAZZIN	LIAS	MT-TH	MT-TK	NDUFS6	PYGL	LZTR1	DLD	MT-CO1	NDUFAF1	ATP5F1E	SYNE2	PPARG	KIF20A	NDUFAF2	TKFC	LMNA	NDUFAF8	MT-ND1	EMD	FANCL	MLX	NDUFAF3	RNASEH2C	NDUFS1	IFIH1	TACO1	MT-ND2	TSFM	CAVIN1	TMEM70	GAA	PTPN11	TNNI3	RNASEH2B	NAGLU	PALB2	NDUFS8	SHOC2	BSCL2	CPT1A	MAD2L2	AGPAT2	NNT	FANCA	ACADVL	BCL7B	MT-TF	NDUFS4	ANKS6	FHL1	MYL3	FANCG	SMC1A	PET100	RIT1	HRAS	SGSH	TMEM126A	NDUFB10	NF1	MT-CO3	FXN	MRPL44	KLF1	HGSNAT	MT-CO2	NDUFB8	TMEM126B	NAGA	GTPBP3	MYPN	MT-TL1	COA5	SUFU	TIMMDC1	METTL27	ACAD9	TBL2	FANCB	FHOD3	FANCI	FTO	HADH	FASTKD2	SAMHD1	RTL1	FANCM	SLC22A5	MRPL3	TMEM43	BAG3	GNS	NDUFAF6	COX14	NDUFV2	NDUFS3	CAV3	ADAR	MIPEP	NDUFA4	MYOZ2	FBXL4	ELN	COX6B1	NDUFB11	CLN3	MAP2K1	INSR	TMEM270	BRIP1	RFC2	MICOS13	COA8	SDHB	NDUFA9	MT-TS2	MYH6	CAV1	SLX4	MRPS14	NDUFS7	FKBP6	MAP2K2	STX1A	SLC30A10	LIPT1	HADHA	BAZ1B	MEG3	MTFMT	COQ2	CRYAB	ATP5MK	BUD23	ATP6V1A	MT-ND5	GLB1	MRAP	MRAS	NFS1	NDUFA12	PYGM	PMM2	LRPPRC	RAD51C	IL12B	PRKAG2	FANCE	DNAJC30	MT-TV	SLC2A10	MT-ATP6	GATA4	MT-TN	GPR101	ELAC2	MEN1	GTF2IRD2	PPA2	TTR	FOS	NDUFA11	COQ4	VPS37D	KCNJ8	UBE2T	TTN	TAPT1	MRPS22	PPP1CB	COA6	MT-ND4	AARS2	TNNC1	TANGO2	PDHA1	MT-TE	SYNE1	COX7B	NDUFA6	SHMT2	DLK1	NDUFA2	RFWD3	ECHS1	SDHAF1	BRCA2	PPP1R21	XRCC2	MC2R	SDHD	CLIP2	GLA	NEK8	BCS1L	RNASEH2A	GTF2IRD1	ATPAF2	SLC19A3	MTO1	TREX1	COX15	BRCA1	MT-TQ	MYLK2	NUBPL	SARDH	TTPA
HP_CARDIOMEGALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIOMEGALY	MOGS	MLXIPL	HEXB	SLC22A5	TGFBR1	MYBPC3	HSD17B10	LOX	ACADM	ASXL1	CLIC2	PLXND1	HBB	MAT2A	GATB	ADAR	CDKN1C	ACTN2	ABCC9	ELN	SDHA	COX6B1	LAMP2	TMEM270	GTF2I	ABCC6	MT-CYB	JUP	NCF1	PRKAR1A	DYSF	KCNQ1OT1	RFC2	NEK9	IGF2	LIMK1	EIF4H	GNPTAB	PSMB8	PRKG1	STAT2	B3GAT3	VAC14	CPT2	COX5A	C1QBP	TTR	FKBP6	PAM16	ACTA2	STX1A	PRKAG2	HFE	BAZ1B	CPT1A	SLC29A3	PEX7	PLAGL1	NEU1	TGFBR2	NHLRC2	BUD23	NONO	WDR37	LBR	RNASEH2C	FBN1	DNAJC30	ENPP1	IFIH1	MFAP5	CHST3	GAA	GTF2IRD2	BMP2	RNASEH2B	SMAD3	NAGLU	GBA	PHYH	VPS37D	KCNJ8	SMAD4	CACNA1C	NKX2-6	PGM1	TAPT1	ACADVL	BCL7B	TET3	SMAD2	PIGS	MYH11	DSP	TGFB2	FOXE3	KCNQ1	ALPK3	SLC17A5	MYLK	MTTP	FUCA1	HYMAI	COQ2	TGFB3	HEY2	METTL27	TBL2	CLIP2	NDUFC2	NAGA	RNASEH2A	GTF2IRD1	PDSS2	TREX1	ZIC3	TRIM37	FIG4	SAMHD1
HP_ABNORMAL_PULMONARY_VALVE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PULMONARY_VALVE_MORPHOLOGY	RASA2	KAT5	TMEM70	EOGT	IDS	SNX10	PRKAR1A	COMT	HIRA	ARHGAP31	RRAS	MRAS	DYRK1A	TCIRG1	BRAF	RIT1	ZEB2	TBX1	RAF1	CLCN7	ROR2	FOXF1	KRAS	SOS1	SALL1	DLL4	POLR3A	RNF135	TNFSF11	SPRED2	B3GLCT	NOTCH1	POLA1	ATRX	PTPN11	PIGL	FLT4	DACT1	DOCK6	DAXX	NXN	NRAS	SOS2	ARVCF	SEC24C	RREB1	CBL	RBPJ	TGFBR2	RRAS2	GP1BB	UFD1	DDX3X	ZNF699	LZTR1	KIF7	JMJD1C
HP_PULMONIC_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONIC_STENOSIS	SMC3	MLXIPL	ZEB2	KRAS	RPL27	PLXND1	FAT4	GATA6	BRAF	ADAMTS10	G6PC3	NRAS	KANSL1	KDM6A	GPC3	ELN	ENPP1	MAP2K1	MAP2K2	TMEM270	GTF2I	FBN1	DSG1	NCF1	FBXW11	SCO2	TAB2	KIF20A	BPTF	RFC2	SURF1	GDF1	FKTN	LIMK1	SOS1	EIF4H	GPC4	CHST3	MGP	ACAD8	CYP24A1	RNF135	FKBP6	CREBBP	STX1A	DCHS1	PTPN11	ARHGAP31	CCDC32	LZTR1	NF1	RAD21	BAZ1B	OTUD5	RAB23	SLC29A3	LTBP2	CHD7	CUL3	BUD23	KAT6A	CDC42	ZNF469	MRAS	ADK	SMAD3	DNAJC30	GATA4	ZNF699	SEMA3E	SGO1	TBCK	GTF2IRD2	CCDC22	NEK9	NOTCH2	VPS37D	SHOC2	NKX2-6	PPP1CB	EP300	STRA6	BMP2	BCL7B	ANKS6	HRAS	WASHC5	RIT1	WAC	B4GALT7	POLR3A	PGAP1	B3GLCT	MAP3K7	NDUFS2	TTC37	PSMD12	NDUFB8	SPRED1	FLT4	RAF1	IGFBP7	SOS2	PRDM5	WNT4	TBX2	NRXN1	METTL27	TBL2	CLIP2	NEK8	NOTCH1	AGO2	NDUFAF3	GTF2IRD1	ZIC3	SARDH	BCOR	TRAF7
HP_PATENT_DUCTUS_ARTERIOSUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATENT_DUCTUS_ARTERIOSUS	RERE	SMAD4	TGFBR1	COMT	KAT6A	ZEB2	EED	PLXND1	EOGT	SKIV2L	RAD51	GATA6	MAT2A	SALL4	GPC3	ABCC9	CDC42	AMMECR1	FGFR3	GTF2I	FANCC	CEP120	BCOR	NCF1	ARSL	MYH11	FBN2	SUCLG1	EIF4H	PEX19	MED12	POLR1C	AMER1	FANCF	YY1AP1	CTU2	ERCC4	TTC26	GPC4	FANCD2	IGF2	UMPS	KANSL1	MYCN	RSPRY1	TRIP4	SMARCA4	PACS1	SLC29A3	CHD7	CALM3	NADSYN1	TGFBR2	ESCO2	FANCL	SMAD3	DVL3	THOC6	TBX4	SEMA3E	MID1	TSFM	PHGDH	SLC25A24	HPGD	SOX2	SMARCB1	WDR35	POLR1D	MAD2L2	SHANK3	FANCA	BCL7B	FOXC1	ARID1A	RIT1	FANCB	TGFB2	WAC	TFAP2B	CD96	TTC37	SOX11	TMEM94	PRDM16	ARID1B	PIGN	METTL27	KCNN3	DHCR7	CREBBP	STAG2	NPHP3	TMCO1	SNRPB	DYRK1A	FKBP14	ARL6IP6	FANCI	FTO	NEDD4L	ADAT3	WDPCP	CADM3	CHRM3	GLI3	ELN	KYNU	TRRAP	USP9X	TBX1	C2CD3	AFF4	KCNH1	RFC2	RBP4	NODAL	ZMPSTE24	TKT	PRKG1	MEGF8	SIK3	FKBP6	NSD1	SMARCD1	CSGALNACT1	SON	PLAGL1	USP18	BUD23	NONO	WDR37	MYOCD	RAD51C	FANCE	DNAJC30	NKX2-5	TCOF1	PCNT	BMPR1A	DNMT3A	IGBP1	ASCC1	VPS37D	ECE1	PPP1CB	EP300	FGFR2	MKKS	SMAD2	COG6	COA6	PEX1	PIGT	DHCR24	SMARCA2	TMTC3	SALL1	ARX	MYLK	GJA5	HYMAI	B3GLCT	FLNA	PRDM6	PSMD12	HEY2	BRCA2	XRCC2	TBX2	KCNE5	ACTB	GP1BB	AGO2	AGGF1	TRIP11	LARS2	BRCA1	PORCN	MLXIPL	SUPT16H	KRAS	ARID2	BRAF	SNRPN	MCTP2	CTCF	SPECC1L	LIMK1	VPS33A	ZMIZ1	KAT6B	PUF60	ALG12	TBC1D24	PRKCZ	TP63	SIX6	PTEN	ZNF148	UBE4B	LZTR1	LMX1B	ARVCF	LMNA	NOTCH2	UFD1	ACTA2	ZNF699	MFAP5	SOX4	NOTCH3	POLR1A	HIRA	PALB2	MYRF	KCNAB2	SETD2	SMARCC2	RPL5	CACNA1C	SAMD9	ACSL4	ANKS6	ARFGEF2	FANCG	RAC1	FGF10	FOXF1	RPS26	MMP23B	UBR7	PDPN	MAP3K7	DPM1	MGAT2	STXBP1	SMARCE1	RAB23	DACT1	TGFB3	MKS1	SEC24C	TBL2	EXT2	ARF1	ZIC3	MASP1	WT1	TRAF7	GJA8	SMC3	MAF	FANCM	APC2	HSPG2	LOX	SPEN	ADAMTS10	G6PC3	ANK1	NFIX	TMEM270	FOXC2	BRIP1	DYNC2LI1	BPTF	NCAPG2	DPF2	SLX4	TALDO1	STX1A	ALB	CCDC22	ERMARD	PLCB3	ALG8	COL18A1	BAZ1B	CASZ1	POLR1B	UBE2A	FBN1	SNX14	GATA4	JMJD1C	GTF2IRD2	KAT8	PCGF2	COQ4	KCNJ8	UBE2T	PTPN11	NKX2-6	GJA1	STRA6	MAP2K1	LUZP1	MRPS16	MYH7	FOXE3	SSR4	IPO8	ZMYM2	SF3B4	RFWD3	GABRD	SKI	TBX5	DTNA	RPL11	MAP1B	RREB1	CLIP2	GTF2IRD1
HP_DILATED_CARDIOMYOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DILATED_CARDIOMYOPATHY	PLN	CSRP3	LMNA	MT-ND6	TPM2	TNNC1	ABCC9	MYL2	LDB3	XRCC4	BAG3	NEXN	RRM2B	MGME1	MT-ND3	HBB	LAMP2	DES	BOLA3	VCL	SCO2	SURF1	RAF1	LIMS2	EYA4	LAMA3	TMPO	PSEN2	LRP12	HADHA	DSG2	HCCS	MT-TW	CASQ2	ACAD8	TAFAZZIN	BBS2	PRKCZ	TTN	TOP3A	MYH7	TRDN	TWNK	MT-TH	TXNRD2	MT-TK	CRYAB	SDHA	DSP	ACTA1	TNNI3	HJV	PRDM16	DNAJC19	UBE4B	BRCC3	MT-CO1	FHL2	TPM1	SYNE2	MT-ND1	DEF6	POLG	ACADVL	LAMA4	SLC6A6	DOLK	PPCS	SGCB	TSFM	RYR2	FKTN	KCNAB2	PGM1	LAMC2	SDHD	MT-TF	NUP107	TKFC	MYBPC3	ACTC1	FHL1	MEFV	LAMB3	ALMS1	MMACHC	MMP23B	MT-CO3	SCN5A	ACTN2	COL7A1	SLC25A4	PDPN	MT-CO2	NDUFB8	POLG2	TNNI3K	NDUFB11	DMD	UBR1	MYPN	XK	MT-TL1	ACAD9	NDUFAF3	HMGCL	HADH	ANKRD1	CHKB	HSPG2	HADHB	TMEM43	SPEN	RERE	GATA5	ADCY5	CAP2	JUP	RBM20	MT-TS2	RBCK1	SPEG	FKRP	CPT2	TERT	KCNJ2	SELENON	TNNT2	PSEN1	MMP1	CASZ1	MYH6	MT-ND5	GLB1	TCAP	MT-TV	SLC2A10	MT-ATP6	GATAD1	DPM3	SGCD	VPS13A	POMT2	ERBB3	MT-ND2	KCNJ5	LUZP1	MT-ND4	HAND2	HAMP	KAT6B	RPL3L	RYR1	SYNE1	TPM3	ANKRD11	COX7B	NDUFS2	GABRD	SKI	EPG5	JPH2	ATP5F1D	ADA2	MT-TQ	TAF1A	MLYCD
HP_ABNORMAL_AORTIC_VALVE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_AORTIC_VALVE_MORPHOLOGY	SMC3	FANCM	MLXIPL	TGFBR1	COMT	SRY	SMAD6	LOX	RAI1	SKIV2L	RAD51	GATA5	HLA-B	MAT2A	BCAS3	ROBO4	GBA	KANSL1	ELN	TAF2	MCTP2	AMMECR1	MAP2K2	TMEM270	GTF2I	FANCC	TBX1	BRIP1	NCF1	RFC2	FOXF1	MYH11	PPP2R5D	LIMK1	FBN2	HGD	EIF4H	PRKG1	FANCF	B3GAT3	ERCC4	PUF60	SLX4	FANCD2	FKBP6	BBS2	CREBBP	ACTA2	STX1A	NOTCH1	ARHGAP31	ZMPSTE24	BAZ1B	SNIP1	MYH7	SEMA3E	HNRNPK	PACS1	ARVCF	ABCC9	NKX2-5	NADSYN1	TGFBR2	BUD23	UFD1	FANCL	LMNA	MYOCD	MLX	RAD51C	IL12B	FBN1	FANCE	DNAJC30	MFAP5	CHST3	JMJD1C	IFT122	SLC25A24	TMEM70	SGO1	GTF2IRD2	NOTCH3	SMAD3	HIRA	PALB2	SH2B1	VPS37D	SMAD4	UBE2T	ACSL4	EP300	MAD2L2	CBL	ZEB2	FANCA	FDFT1	BCL7B	SMAD2	EDNRA	B3GALT6	MYH3	CCNQ	FANCG	RAC1	SPTBN1	TNXB	TGFB2	WAC	FOXE3	MMP2	ZNF462	MMP21	CHRNG	MYLK	KIF3B	TTC37	GJA5	SKI	MAP3K7	CHD7	TAB2	RFWD3	FLNA	TGFB3	NAA10	MMP14	IFIH1	HEY2	BRCA2	XRCC2	SEC24C	RREB1	METTL27	NXN	TBL2	CLIP2	KCNE5	GLA	YY1AP1	ACTB	GP1BB	RPL26	BCOR	AGO2	GTF2IRD1	RPS6KA3	FANCB	BRAF	OGT	BRCA1	CAPN15	FANCI	WT1	GNPTAB	GJA8
HP_COR_PULMONALE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COR_PULMONALE	TGFB1	SELENON	TPM2	TPM3	ITGA7	HACD1	ACTA1	FLNA	FCGR2A	MYL2	MAP3K20	BTK	SREBF1	CFTR
HP_TACHYCARDIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TACHYCARDIA	SCN5A	CACNA1S	ABCC9	SRY	CPOX	RYR2	SDHD	PLXND1	KCNJ11	DSP	SCN1B	HMBS	TBX20	MYOZ2	CAVIN1	KYNU	MT-CYB	JUP	FBP1	SEMA3A	MAX	NPPA	BTNL2	AKAP9	TSHR	RET	ABCC8	VPS33A	SCN10A	NKX2-5	TET2	ABCA3	CASQ2	CALM2	PKP2	ASXL1	ACTN2	TTN	UCP2	TRDN	GYG1	KCNJ2	SDHB	KCND3	CITED2	SLC25A20	KCNJ18	HCN4	RYR1	TECRL	TPM1	CUBN	KCNJ5	ACADVL	PYGM	MYH6	ACTC1	ZNF699	TMEM43	TRPM4	SDHC	CNBP	VHL	DNMT3A	SCN2B	CACNB2	CALM3	JPH2	RHAG	ECE1	DST	FMO3	CALM1	CTNNA3	FLAD1	RHD	GATA6	RHCE	NKX2-6	ELP1	PGM1	DSG2	HNF1A	BMP2	SRSF2	CACNA1C	SCN3B	KCNE3	GNAI2	GPD1L	SCNN1A	CPT2	TANGO2	KCNE5	SLMAP	SFTPB	CACNA2D1	GATA4	CSF2RA	NAA10	MYL2	SCN9A	KIF1B	SLC19A2	TNNI3K	SPRED1	HFE	CSF2RB	NDUFB11	LMNA	TLL1	TMEM127	CDH2	KCNQ1	SLC12A3	HNF4A	RANGRF	HLA-DRB1	AMN	CSRP3	KCNJ8	PPOX	SFTPC	KIT
HP_AORTIC_VALVE_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AORTIC_VALVE_STENOSIS	SMAD4	FLI1	KRAS	GJA1	TTR	CCDC22	FGFR1	GATA5	ADAMTS10	ROBO4	EHMT1	DPH1	DYRK1A	EP300	FBN1	CBL	ZEB2	ANKS6	EBP	WASHC5	TAB2	DDX58	SMAD6	LMNA	NR2F2	FOXF1	HAAO	B4GALT7	IDUA	CLIC2	CHST3	VWF	CYP24A1	NKX2-5	CREBBP	GNPTG	AMER1	NOTCH1	ARHGAP31	ZMPSTE24	SLC2A10	WT1	GLB1	IFIH1	SNIP1	SCN1B	LTBP2	NEK8	ACTB	NOTCH2	NPHP3	GBA	BCOR	ADAMTSL2
HP_ABNORMAL_HEART_VALVE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEART_VALVE_MORPHOLOGY	SACS	TGFBR1	COMT	FGFR1	PLXND1	SKIV2L	RAD51	GATA6	MAT2A	RRAS	GBA	KANSL1	TBX20	ABCC9	FREM1	FBN1	TAF2	AMMECR1	RIT1	GTF2I	FANCC	BCOR	NCF1	ROR2	MYH11	FBN2	YY1	EIF4H	NELFA	DCHS1	FANCF	NKX2-5	HCCS	ERCC4	FANCD2	MMP2	LETM1	FIBP	ATRX	DSE	LOX	ARHGAP31	ZMPSTE24	ALG9	MYCN	PACS1	EVC2	SLC29A3	CHD7	COL1A2	NADSYN1	TGFBR2	NOTCH1	FANCL	LMNA	MLX	COL5A2	SEMA3E	CHST3	SLC25A24	TPM3	ABCC6	SMAD3	AEBP1	CPLX1	MRAS	MAD2L2	ZEB2	FANCA	BCL7B	SKI	MYH3	SPTBN1	TNXB	HRAS	PKD1	DYNC2LI1	TGFB2	WAC	FLNA	TTC37	GATA4	POLA1	PRDM16	MFAP5	NXN	METTL27	MAP3K7	BRF1	FANCB	FANCI	TPM2	GANAB	COL5A1	PLOD1	IDS	CCNQ	NEDD4L	RERE	GATA5	GALNS	SPEG	ELN	VPS13B	ENPP1	RYR1	TBX1	PRKAR1A	DNASE1L3	RFC2	KRAS	PRKG1	PKD2	COL1A1	FKBP6	SPRED2	HCN4	CREBBP	COL2A1	TAB2	PIGL	DOCK6	SNIP1	CTBP1	BUD23	ZNF469	MYOCD	RAD51C	IL12B	FANCE	DNAJC30	ACTC1	KIF7	IDUA	BICC1	SNX10	SELENON	HNRNPH2	VPS37D	SMAD4	EP300	FDFT1	SMAD2	CBS	TMTC3	FMN2	DNAJB11	SALL1	DLL4	ZNF462	CLIC2	MMP21	DZIP1	CHRNG	MYLK	TMEM260	ARSB	GJA5	COX7B	B3GLCT	FLT4	IFIH1	PRDM5	DAXX	HEY2	BRCA2	XRCC2	NDUFB11	HNRNPK	KCNE5	GLA	ACTB	GP1BB	AGO2	AGGF1	RPS6KA3	LTBP3	BRAF	BRCA1	PTPN11	GNPTAB	KAT5	EOGT	PIGG	TTN	MLXIPL	SRY	RAI1	HLA-B	BCAS3	MCTP2	RAF1	LIMK1	XYLT1	HGD	MYPN	FMR1	PUF60	VWF	BBS2	PRKCZ	UBE4B	NSD2	ARVCF	GLI1	UFD1	SLC6A6	DDX3X	ZNF699	TMEM70	SGO1	NONO	NOTCH3	HIRA	PALB2	MYRF	KCNAB2	RPL5	ACSL4	CBL	ATP6V1E1	EDNRA	B3GALT6	WASHC5	ARFGEF2	CLCN7	FANCG	RAC1	SMAD6	FOXF1	SOS1	NPR3	MMP23B	GUSB	XYLT2	KIF3B	TNFSF11	PDPN	SLC34A2	EVC	SPRED1	GNB2	DACT1	TGFB3	NAA10	COL3A1	TLL1	NRAS	SOS2	SEC24C	TBL2	YY1AP1	MAPK1	RPL26	ARF1	ZIC3	WT1	GJA8	SMC3	RASA2	FANCM	POLG	HSPG2	SPEN	SMPD1	ROBO4	ANK1	DYRK1A	MAP2K1	MAP2K2	TMEM270	BRIP1	PPP2R5D	B3GAT3	SLX4	BIN1	RNF135	ACTA2	STX1A	ERMARD	LZTR1	CITED2	BAZ1B	MYH7	CHST14	CASZ1	RRAS2	GLB1	MYH6	JMJD1C	IFT122	PLD1	GTF2IRD2	CCDC22	PCGF2	MTX2	NF1	SH2B1	KCNJ8	UBE2T	TCIRG1	NKX2-6	GJA1	LUZP1	FOXE3	IPO8	POLR3A	MED12	RFWD3	GABRD	MMP14	JPH2	SH3PXD2B	MAP1B	RREB1	CLIP2	RBPJ	EXTL3	GTF2IRD1	OGT	CAPN15
HP_PATENT_FORAMEN_OVALE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATENT_FORAMEN_OVALE	TSFM	RERE	PKDCC	PHGDH	PLD1	NONO	TGFB3	COL11A1	MRPL3	PACS1	RAI1	MTX2	KRAS	NF1	MED13L	FLCN	RIPK4	GATA6	ASCC1	SMG8	WDR35	SNRPN	CACNA1C	PPP1CB	EP300	TRRAP	TKT	SDHD	FIG4	IGF1R	FBXW11	LMNB1	RAC1	FOXF1	NCAPG2	PPP2R5D	YY1	SUCLG1	GNB5	DDX6	VPS33A	KDM1A	HSPA9	RELN	RPL3L	MED12	UBR7	IPO8	B3GAT3	KATNB1	TASP1	TTC26	NKX2-1	PRR12	TALDO1	ALG12	BICRA	TBX20	DVL3	TMEM94	MAP3K7	STAT1	DSE	FANCI	CACNA1D	RSPRY1	TRIP4	CSGALNACT1	SETD1A	PIGN	SCUBE3	NOTCH1	CREBBP	AGO2	SH3PXD2B	STAMBP	AFF4	STAG2	ACADVL	WDR37	UBE2A	CDK8	LTBP4	NDE1	ZNF699	AMMECR1	CHST3	GNPTAB	MID1
HP_PROLONGED_QT_INTERVAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLONGED_QT_INTERVAL	GPC3	KCNE1	NOS1AP	GABRA3	SCN5A	SRY	SLC12A3	KCNJ5	KCNA5	GNAS	CALM2	SCN4B	ALG10B	CACNA1C	PHOX2B	KCNQ1	AKAP9	TBX5	CAVIN1	SNTA1	CALM1	BPTF	KCNJ18	MECP2	RYR1	TANGO2	CACNA1S	CALM3	TRDN	ALPK3	GPC4	TECRL	SCN10A	PSMD12	TNNI3K	KCNJ2	ANK2	DNAJC19	KCNH2	CAV3	GMPPB	KCNE2	STX16	CLCNKB	ACADVL	TRPM4	DPAGT1	SVIL	HADH
HP_AORTIC_REGURGITATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AORTIC_REGURGITATION	IL12A-AS1	ELN	TGFBR1	CCNQ	IL12A	NEDD4L	LOX	ALDH18A1	PLXND1	SKIV2L	MAT2A	EHMT1	DYRK1A	TLR4	MYH11	IL10	GATA5	GNPTAB	PRKG1	IDUA	YY1AP1	TTC26	HLA-B	CHST3	HCN4	ACTA2	GNPTG	ERAP1	ZMPSTE24	ERMARD	SLC2A10	PUF60	SLC35A1	MAN2B1	COL1A2	TGFBR2	NOTCH1	CRKL	LMNA	STAT4	FBN1	SMAD3	UBAC2	MFAP5	BCR	PCGF2	IFNGR1	MEFV	SMAD4	SHOC2	BUB1B	NKX2-6	C4A	ATP6V1E1	SMAD2	ARFGEF2	COA6	FLNA	FBLN5	SMAD6	SPTBN1	BUB1	C12orf57	TMTC3	TGFB2	FOXE3	KLRC4	D2HGDH	MYLK	TTC37	TRIP13	NKX2-5	CCR1	TAB2	SON	TGFB3	MAPK1	MAP1B	IL23R	HEY2	BUB3	CEP57	FAS	ARF1	PDSS1
HP_TRUNCUS_ARTERIOSUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRUNCUS_ARTERIOSUS	TBX1	PUF60	GATA6	TMEM260	BCR	GJA5	COMT	PLXND1	HIRA	MAPK1	NKX2-6	DLL4	STRA6	ARVCF	SEC24C	NKX2-5	RREB1	NEK8	GP1BB	UFD1	CRKL	PSMD12	JMJD1C	GJA8
HP_BRADYCARDIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRADYCARDIA	SGO1	NOS1AP	PAX8	PPA2	MYO1H	ASXL1	LHX4	LHX3	COQ9	COQ4	UQCRFS1	DUOX2	DST	CALM2	HESX1	GNB2	SCN5A	CACNA1C	EFEMP2	GFM2	TSHB	SLC4A3	NPPA	GLUL	LAMC2	KCNQ1	AKAP9	KCNH2	TBX5	CAVIN1	MYL4	DES	HEPHL1	TWNK	CALM1	GNB5	TPO	LIPT1	LAMA3	LAMB3	LMNA	IYD	KCNJ2	SCO1	CALM3	TRDN	SFTPB	ABCA3	NDUFA8	CACNA2D1	PROP1	TSPYL1	SCN4B	HCN4	TSHR	SLC25A20	SCN10A	SCN9A	TNNI3K	PRKAG2	DUOXA2	KCNJ5	BVES	ANK2	CAV3	POU1F1	TMEM43	SLC5A5	CACNA1D	HTRA2	USP18	KCNE2	TLL1	TRPM4	KCNE1	CASQ2	TG	BRAT1	SNTA1	SFTPC
HP_VENTRICULAR_FIBRILLATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENTRICULAR_FIBRILLATION	SCN5A	GABRA3	ABCC9	SCN2B	MYBPC3	SLC12A3	CACNB2	DSP	SCN1B	ALG10B	SLC4A3	KCNH2	CACNA1C	SCN3B	SNTA1	KCNE3	MYL3	KCNJ18	SEMA3A	AKAP9	GPD1L	SCNN1A	KCNE1	TNNC1	TANGO2	KCNE5	KCNJ2	CACNA1S	SCN10A	SLMAP	CACNA2D1	KCNQ1	PKP2	DPP6	TECRL	HCN4	MYL2	GYG1	KCND3	NDUFB11	RANGRF	CALM1	RYR2	CLCNKB	CALM2	ACADVL	KCNJ8	KCNE2	TRPM4
HP_TORSADE_DE_POINTES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TORSADE_DE_POINTES	KCNQ1	SCN5A	KCNE1	NOS1AP	SCN4B	NAA10	SCN10A	KCNJ2	KCNJ5	CALM2	ALG10B	KCNH2	CAV3	AKAP9	TBX5	SNTA1	KCNE2	CALM1	ANK2	RYR2	TANGO2	CACNA1C	CALM3	TRDN
HP_RIGHT_VENTRICULAR_HYPERTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIGHT_VENTRICULAR_HYPERTROPHY	GPC4	NONO	TTN	SELENON	VPS33B	LAMB2	PLXND1	SFTPB	BMPR2	GPC3	SGCG	GTPBP3	VIPAS39	NKX2-6	PIGN	MYH7	COLQ	DYSF	NOTCH1	FOXF1	STAMBP	NPHP3	IPO8
HP_TRANSPOSITION_OF_THE_GREAT_ARTERIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRANSPOSITION_OF_THE_GREAT_ARTERIES	HYDIN	PHGDH	GATA6	ZMYND10	GDF1	DRC1	CFAP53	DNAI1	CCDC40	PLXND1	RSPH3	LMNA	MCIDAS	PIGL	DNAH5	GPC3	STK36	NKX2-6	GAS2L2	MED13L	BMP2	CCDC103	DNAAF11	CFAP300	DNAAF2	SPAG1	ODAD1	DNAL1	TTC12	CCDC39	CCNO	RSPH9	FKTN	NODAL	MEGF8	TBX1	CFC1	ODAD2	QRICH1	ZNF462	CFAP298	MMP21	DNAAF1	FOXJ1	GPC4	NEK10	DNAAF4	GJA5	ODAD3	ODAD4	DNAAF5	LRRC56	GAS8	ZMPSTE24	RPGR	RSPH4A	GNB2	FANCB	ZIC3	WT1	RSPH1	DNAAF3	DNAH9	RAB23	CCDC65	DNAJB13	NKX2-5	OFD1	DNAH11	NME8	DNAI2	CFAP221	SPEF2	GATA4	DNAH1	DNAAF6	GJA8
HP_ASYMMETRIC_SEPTAL_HYPERTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASYMMETRIC_SEPTAL_HYPERTROPHY	FHOD3	SGSH	PRKAG2	CAV3	MYLK2	MYL2	MYOZ2	MYH7	NAGLU	HGSNAT	MYH6	GNS
HP_ABNORMAL_CARDIAC_SEPTUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CARDIAC_SEPTUM_MORPHOLOGY	RERE	KAT6A	ZEB2	PLXND1	UQCRFS1	GATA6	XYLT1	SMG8	MGAT2	GATA4	GPC3	COX7B	CKAP2L	FANCC	BCOR	PEX3	LARP7	PIEZO2	FBN2	CDH2	SOS1	EIF4H	ERCC3	FANCF	CTU2	NDUFA10	KATNB1	ERCC4	TTC26	FANCD2	LRP2	PAH	RBM10	TUBG1	NR2F2	DSE	ZIC3	RSPRY1	TRIP4	RPL10	PACS1	EVC2	COL1A2	ESCO2	TLL1	STRADA	DEF6	ACADVL	CRKL	ADK	SMC3	TBX4	SEMA3E	CHST3	MED25	NAA10	SOX2	SMARCB1	RARB	CPLX1	MAD2L2	SHANK3	SDHD	MED13L	FANCA	CLCN3	PEX6	RPL27	PET100	TGFBR1	FANCB	SPTBN1	HRAS	KDM6A	DYNC2LI1	DDX6	BRAF	RPL35A	RPS26	WNT4	NIPBL	CD96	FLNA	JAG1	TTC37	PEX12	TBX1	IFT81	KCNA1	TMEM94	TARS1	POLA1	SLC19A2	ARID1B	RPS15A	MEIS2	TCIRG1	MYPN	GATA1	ZDHHC9	METTL27	RNU4ATAC	DHCR7	TGFBR2	CREBBP	PIGN	STAMBP	CEP57	NPHP3	TMCO1	NKX2-1	DYRK1A	FTO	PEX16	ESS2	FIG4	FADD	PKDCC	DNMT3A	SPEN	RPL15	ADAT3	RSPO2	LONP1	KAT6B	RAD21	CHRM3	NDUFV2	PIK3R2	HCCS	GLI3	FGFR2	NDUFA4	ELN	C2CD3	LBR	NODAL	SYT1	ZMPSTE24	COL1A1	UBE3B	SIK3	MGP	PEX26	NDUFAF2	FKBP6	BRD4	PIGL	NSD1	SMARCD1	SPATA5	OTUD5	CSGALNACT1	GDF3	PAX3	TGDS	DGCR2	MICU1	BUD23	ATP6V1A	WDR37	NDUFA12	MYOCD	FANCE	DNAJC30	PNKP	FLI1	SIAH1	PEX14	IGBP1	TTC7A	SCN1B	LRP5	ASCC1	VPS37D	EP300	TAPT1	MEG3	IGF1R	RPS19	ADAMTS10	PDHA1	THPO	SALL1	ARX	STK4	KIF11	TMEM260	TRIP13	PGAP1	TBX20	HYMAI	DVL3	KDM3B	SETD5	ECHS1	YARS1	XRCC2	NDUFB11	HNRNPK	THOC6	IFT172	AGGF1	AFF4	SLC19A3	COX15	CDK8	LARS2	BRCA1	PORCN	SVBP	CRELD1	PIGG	DYNC2I1	SUPT16H	MYBPC3	HDAC8	RAI1	KRAS	AKT3	FLNB	RIPK4	SNRPN	CPE	DSG1	CTCF	CTBP1	MEGF8	HSPA9	UBR1	PSMD12	NUP188	TALDO1	UMPS	NIPA1	TBX22	FGF13	INSR	ALG12	TBC1D24	RPS28	PRKCZ	TBX3	CDKL5	CCDC32	FANCI	RPL35	EIF2AK3	CYP27A1	LZTR1	NKX2-5	RPL5	SCUBE3	UFD1	SALL4	CCBE1	TACO1	ARID2	PIGT	GPX4	TFAP2B	HIRA	LMNA	PALB2	MYRF	KCNAB2	FGFR1	PIGQ	VIPAS39	CEP290	COG1	HYLS1	ATP6V1E1	NUP107	WASHC5	FANCG	UBR7	PDPN	MAP3K7	EPHB4	TAB2	RAF1	MAPK1	SYNE1	SEC24C	NOTCH1	ERCC2	MPL	EXT2	SNRPB	LTBP4	PQBP1	MASP1	WT1	SLC12A2	ACTC1	RTL1	APC2	PEX1	POR	HSPG2	PKD1L1	G6PC3	ROBO4	ACVR2B	EFTUD2	PEX11B	MAP2K1	FOXF1	NEK9	GNB5	GPC6	PEX5	CRB2	SLX4	MPLKIP	NIPA2	ASXL2	BAZ1B	NOTCH2	MRAS	UBE2A	RMRP	SNX14	ATP6V0A2	ROR2	KAT8	CCDC22	PCGF2	WDPCP	ERBB3	UBE2T	NKX2-6	GJA1	STRA6	TAOK1	PEX2	CHST14	FBN1	ATN1	RELN	SEC31A	GPC4	ZMYM2	RPL31	SETBP1	SF3B4	MED12	RFWD3	SON	RPS29	NDUFS1	B3GLCT	RPL11	TXNL4A	SETD1A	DGCR8	NEK1	TSR2	RREB1	DDX11	CLIP2	DLK1	SH3PXD2B	GTF2IRD1	RBM8A	OTUD6B	SPECC1L	CWC27	SMAD4	TGFB3	COMT	PRKACB	FLCN	EOGT	SKIV2L	SRCAP	RAD51	NDUFA13	KANSL1	FGFR3	GTF2I	SCN2A	NFE2L2	NCF1	ARSL	LMNB1	GDF1	RYR1	YY1	SUCLG1	PEX19	NELFA	RPL18	TRIO	AMER1	YY1AP1	SATB2	INTU	LETM1	NDUFS2	CANT1	FIBP	ARHGAP31	FOXRED1	RRAS2	MYCN	GDF6	SMARCA4	SURF1	SLC29A3	GTF2E2	CHD7	CALM3	CITED2	FANCL	SMN1	GNAO1	MID1	TSFM	PHGDH	CHD4	SLC25A24	PACS2	TBCK	SMC1A	FUT8	MEOX1	WDR35	HNRNPU	BUB1B	BCL7B	NDUFS4	SMG9	FOXC1	KIAA0586	ARID1A	RIT1	WAC	ABL1	RPS10	WDR26	TASP1	SOX11	MYL2	STAT1	AUTS2	PRDM16	SMARCE1	SMAD3	NXN	NSD2	BRF1	STAG2	CDK13	ALG9	NDUFS8	CCNQ	MRPL3	PIGF	VPS33B	ASXL1	CCDC174	GATA5	EHMT1	TRRAP	DLL4	RPS17	USP9X	RECQL4	RFC2	FKTN	NDUFA9	PIEZO1	SMARCA2	TKT	PRR12	BICRA	IRX5	MYH7	XYLT2	VPS13B	PLAGL1	LTBP2	SIK1	NONO	RAD51C	CDK10	ATRX	GRM7	TRAIP	PCNT	KIF7	EVC	DMXL2	BMPR1A	TNFRSF11A	COL11A1	RPS24	HNRNPH2	CCND2	CASK	ECE1	PPP1CB	ADA2	MKKS	COG6	BUB1	NDUFS7	RPL3L	PTF1A	ZNF462	MMP21	ANKRD11	PIGO	SATB1	NDUFA2	CACNA1D	BRCA2	WBP11	TBX2	UQCRC2	GP1BB	AGO2	NDE1	AMMECR1	GNPTAB	NOTCH3	KAT5	MOGS	MLXIPL	VPS35L	ABCD4	NEUROD2	MCTP2	MT-CYB	FBXW11	DGCR6	LIMK1	VPS33A	RPS7	NDUFAF5	VAC14	PUF60	KMT2D	BBS2	GYG1	TP63	SIX6	PTEN	NF1	UBE4B	ARCN1	BMP2	ARVCF	ALKBH8	GLI1	CUL3	HOXD13	CDC42	KDM5B	IDH1	NDUFV1	RPS27	ZNF699	SLC35A2	SOX4	METTL5	SETD2	SMARCC2	SHOC2	BSCL2	CACNA1C	RPS20	PGM1	TET3	B3GALT6	RAC1	MYH6	MYMK	MMP23B	HAAO	CDC45	KIF15	PIK3CA	GTF2H5	GNB2	DACT1	SLC37A4	MKS1	UPF3B	BUB3	TBL2	NSDHL	PRKACA	EXOC2	FANCM	TRIM8	FGFRL1	NDUFAF6	ANK1	NFIX	NDUFS3	DPH1	MAP2K2	TMEM270	PPP2CA	BRIP1	SDHA	NCAPG2	PPP2R5D	PEX10	PEX13	DPF2	KDM1A	B3GAT3	MIR17HG	STX1A	GLA	PTPN11	ALG8	LIPT1	RAB23	MTFMT	RNF113A	CASZ1	RPL26	JMJD1C	PLD1	BCR	GTF2IRD2	MTX2	FOXC2	SH2B1	NKAP	LUZP1	CFC1	MMP2	IPO8	CFAP45	HOXA13	POLR1A	PIGA	SHMT2	CARS1	TCTN3	GABRD	SKI	TBX5	DTNA	MMP14	ATIC	SOS2	FTCD	LEMD2	PPP1R21	PIGP	NDUFC2	SLC25A22	MAGEL2	DNAJC19
HP_COMPLETE_ATRIOVENTRICULAR_CANAL_DEFECT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMPLETE_ATRIOVENTRICULAR_CANAL_DEFECT	GATA1	PUF60	HYLS1	INTU	NKX2-5	GATA6	GDF1	WDPCP	TBX1	NKX2-6	PRKACA	CDC45	TRIO
HP_CORONARY_ARTERY_ATHEROSCLEROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORONARY_ARTERY_ATHEROSCLEROSIS	ABCG8	TGFBR1	PPARG	LOX	SMAD3	ABCA1	MAT2A	SMPD1	SMAD4	APOA1	LDLR	ELN	CYP7A1	SMAD2	LMNA	MYH11	ABCC6	XYLT1	TGFB2	FOXE3	PPP1R17	GHR	APOB	PRKG1	APOA2	LDLRAP1	MYLK	XYLT2	ACTA2	EPHX2	PNPLA2	PCSK9	ERCC6	TGFB3	LIPC	CYP27A1	BRCC3	HEY2	ESR1	CEP19	ABCG5	SERPIND1	TGFBR2	KCNJ5	CELA2A	FBN1	ERCC8	ZNF687	APOE	MFAP5
HP_ABNORMAL_AORTIC_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_AORTIC_MORPHOLOGY	ELN	SMAD4	TGFB3	TGFBR1	NTNG2	COMT	ZMIZ1	FGFR1	PLXND1	TRMT1	GATA1	SRCAP	RAD51	GATA6	MAT2A	GBA	KANSL1	COX7B	HRAS	GTF2I	FANCC	NCF1	ROR2	DOCK3	MYH11	GDF1	NR2F2	FBN2	SUCLG1	CDH2	MED27	EIF4H	HDAC4	MED12	APOB	RPL18	FANCF	SIX3	ERCC4	TTC26	LDLRAP1	FANCD2	PAH	PTCH1	KRAS	TUBG1	LOX	FOXE3	SLC2A10	ALG9	MYCN	PTEN	ACTL6B	CHD7	COL1A2	TGFBR2	NOTCH1	EMC10	CRKL	FANCL	ADK	MLX	COL5A2	RNASEH2C	DPYSL5	SMAD3	IFIH1	SEMA3E	CHST3	MID1	CHD4	SLC25A24	PTPN23	TRIP12	TPM3	TSC1	MAPK8IP3	LDLR	EFEMP2	BUB1B	KCNMA1	CYP7A1	MAD2L2	ZEB2	FANCA	ALG3	PPP2R1A	BCL7B	SMG9	SKI	MYH3	RPL27	FANCB	NODAL	SPTBN1	STIL	KDM6A	FBXW11	WDFY3	TGFB2	WAC	RPL35A	ABL1	BPTF	RPS10	WDR26	TCF20	RPS26	TBX1	NKX2-5	COL3A1	FBLN5	PRDM16	PCSK9	ZIC2	RPS15A	JAG1	MFAP5	MEIS2	PIGN	BCORL1	NXN	RLIM	METTL27	RNU4ATAC	DHCR7	DIS3L2	CREBBP	BRF1	TGIF1	CEP57	CCDC32	FKBP14	FANCI	MYT1L	APOE	ESS2	PKD1	TPM2	PTPN22	GANAB	COL5A1	PLOD1	IDS	RPL15	NEDD4L	RERE	PIK3R2	HCCS	GLI3	ADAR	EHMT1	TRRAP	SLC12A2	KCNH1	RFC2	TDGF1	UBR7	KMT2E	PRKG1	UBE3B	PKD2	COL1A1	FKBP6	GRIA4	HPDL	LMNA	RPS19	TSC2	ACTA2	DGCR2	TGDS	BUD23	FGFR2	RAD51C	IL12B	FANCE	DNAJC30	DNAH1	TCF7L2	PUS7	ABCG8	BICC1	FLI1	DNMT3A	DISP1	RPS24	SYNCRIP	VPS37D	PPP1CB	EP300	ADA2	AGO2	SMAD2	MYLK	BUB1	TMTC3	RNF2	DNAJB11	ANGPTL6	NTNG1	MMP21	CHRNG	SHH	NSMCE2	TMEM260	TRIP13	GJA5	TBX20	CNOT3	DLK1	FLT4	HEY2	BRCA2	XRCC2	HNRNPK	KAT8	SETD1A	GP1BB	RNASEH2A	AFF4	CDK8	BRCA1	AEBP1	BCOR	CRELD1	FBN1	MLXIPL	SUPT16H	SRY	RAI1	ALDH18A1	FLNB	ABCD4	HLA-B	BRAF	KDM4B	MCTP2	CDON	ABCC6	CTCF	PSMD12	MED13	C12orf57	DGCR6	LIMK1	HGD	CLCN3	NKX2-6	RPS17	RPS7	TALDO1	NIPA1	MYPN	PUF60	GAS1	KMT2D	RPS28	PRKCZ	AMER1	ZMPSTE24	NRAS	ZNF148	RPL35	UBE4B	THSD1	LZTR1	ARVCF	RIN2	RPL5	TNRC6B	UFD1	PGM3	RPS27	NSD1	ABCG5	TANC2	RNASEH2B	DDX6	HIRA	BCAS3	PALB2	KCNAB2	SETD2	MADD	RPS20	PGM1	PALS1	ARFGEF2	FANCG	SMAD6	ACTL6A	NPR3	MMP23B	PTH1R	NF1	P4HA2	PDPN	SLC34A2	TAB2	GNB2	MAPK1	STAG2	MKS1	SEC24C	BUB3	TBL2	FGF8	ARF1	WT1	HS2ST1	TRAF7	ANKRD17	SAMHD1	GJA8	RTL1	FANCM	APC2	GJA1	HSPG2	B3GALT6	SPEN	ROBO4	ACVR2B	SPECC1L	SATB1	TGFBR3	TMEM270	BRIP1	DYNC2LI1	FOXF1	FMR1	NEK9	ENG	GATA5	HTT	B3GAT3	SLX4	STX1A	NIPA2	ERMARD	BAZ1B	NDUFB11	MEG3	MYH7	RPL11	CASZ1	LMBRD2	RPL26	ERCC8	ENPP1	GATA4	JMJD1C	BCR	GTF2IRD2	HLA-DRB1	GLI2	SVBP	WDPCP	DLL1	UBE2T	NOD2	PTPN11	STRA6	MAP2K1	NKAP	LUZP1	FLNA	WASF1	MMP2	IPO8	RPL31	FOXH1	LEMD3	CARS1	RFWD3	ERCC6	GABRD	TBX5	RPS29	MMP14	HUWE1	SOS2	MAP1B	DGCR8	TSR2	RREB1	CLIP2	TRAPPC4	GTF2IRD1	UNC45B	TREX1	RBM8A	BGN	JARID2
HP_COARCTATION_OF_AORTA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COARCTATION_OF_AORTA	ELN	SMAD4	SUPT16H	GJA1	RPL15	SRY	SMAD6	ALDH18A1	KDM6A	FGFR1	ABCD4	GATA1	SRCAP	BRAF	GLI3	EHMT1	SPECC1L	TRRAP	HRAS	MCTP2	CDON	CTCF	DYNC2LI1	FOXF1	GDF1	NR2F2	GATA5	NODAL	SUCLG1	TDGF1	TBX1	CDH2	MED12	NKX2-6	RPL18	RPS17	RPS7	TALDO1	SIX3	NIPA1	UBE3B	PUF60	GAS1	KMT2D	PAH	RPS28	CREBBP	PTCH1	KRAS	TUBG1	AMER1	NIPA2	NRAS	LZTR1	ZNF148	RPL35	WT1	RPS19	MYH7	RPL11	NKX2-5	RPL5	TGDS	NOTCH1	ADK	RPL26	RPS27	MID1	CHD4	GATA6	FLI1	DISP1	GLI2	RPS24	WDPCP	DLL1	PTPN11	RPS20	BUB1B	PPP1CB	EP300	PGM1	STRA6	ZEB2	ADA2	MAP2K1	ALG3	FBLN5	RPL27	FANCB	STIL	BUB1	WAC	MMP2	RPL35A	ABL1	RPS10	PTH1R	NF1	RPS26	RPL31	SHH	TRIP13	GJA5	TBX20	FOXH1	ZIC2	RPS15A	RPS29	JAG1	MMP14	SOS2	MEIS2	STAG2	TSR2	MKS1	BUB3	RNU4ATAC	FGF8	CEP57	DHCR7	TGIF1	UNC45B	RBM8A	CDK8	TRAF7	GJA8
HP_ANGINA_PECTORIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANGINA_PECTORIS	LDLRAP1	ABCG8	TTR	LIPC	XYLT2	ABCC6	GLA	PNPLA2	PCSK9	ZMPSTE24	LMNA	LCAT	IDUA	APOA1	LDLR	ENPP1	PTEN	ABCA1	PRTN3	MPL	CTLA4	TET2	HLA-DPA1	JAK2	XYLT1	PMM2	CYP27A1	APOE	APOB	ABCG5	PTPN22	HLA-DPB1
HP_SUBVALVULAR_AORTIC_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBVALVULAR_AORTIC_STENOSIS	TRIP13	BUB3	PTPN11	CEP57	NKX2-5	WDPCP	MYH7	MYH6	BUB1	TAB2	GNB2	FGFR1	CAV3	MYLK2	IFIH1	BUB1B	HDAC4	SYT2
HP_SECUNDUM_ATRIAL_SEPTAL_DEFECT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SECUNDUM_ATRIAL_SEPTAL_DEFECT	TTC26	CHD7	PGAP1	NKX2-5	SHMT2	GATA6	GDF1	SH3PXD2B	NR2F2	METTL5	MYH6	IDH1	NF1	TBX5	RPL11	TRIP4	PTF1A	SEMA3E
HP_MYOCARDIAL_FIBROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOCARDIAL_FIBROSIS	FLNC	PPA2	KIF20A	TNNI3	MYPN	FKTN	MYL2	JPH2	TRIM37	TNNT2	ALMS1	SERPINE1	DOLK	RPL3L	LAMP2
HP_LOSS_OF_VOICE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOSS_OF_VOICE	ASAH1	SDHC	SDHD	SDHAF2	SDHA	FTL
HP_SINUS_BRADYCARDIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SINUS_BRADYCARDIA	SCN5A	NOS1AP	SCN4B	HCN4	MYO1H	SCN10A	TNNI3K	KCNJ5	BVES	ANK2	CALM2	GNB2	KCNH2	CAV3	KCNQ1	AKAP9	TBX5	HEPHL1	KCNE2	CALM1	LMNA	PRKAG2	KCNE1	CACNA1C	CALM3	TRDN	SNTA1
HP_ATRIAL_ARRHYTHMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATRIAL_ARRHYTHMIA	SCN5A	FLNC	SGO1	DMPK	TTR	TNNI3	MYPN	RYR2	KCNE2	NPPA	PRKAG2	KCNA5	GATA5	TNNT2	TBX20	GNB2	SCN4B	MYOZ2	GATA6	ABCC9	RRM2B	SLC4A3	KCNH2	CAVIN1	MYL4	GJA5	MT-CYB	NODAL	SCN3B	NUP155	LMNA	TNNC1	MYH7	KCNJ2	LRP12	NKX2-5	CASQ2	CLIC2	CACNA2D1	CACNA1C	SLC25A4	EMD	KCNQ1	GATA4	CACNB2	ACTN2	TTN	HCN4	PLN	CITED2	TRDN	TWNK	POLG2	TAB2	TNNI3K	TBX5	DTNA	ANK2	SMAD3	MFAP5	TLL1	SCN1B	TMEM43	XK	SCN2B	KIF20A	KCNJ5	POLG	FHOD3	CSRP3	APRT	MYH6	NEXN	ACTC1	GATAD1
HP_CARDIAC_SHUNT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIAC_SHUNT	TTC26	MYH11	TBX20	THOC6	ENG	GATA4	CITED2	FOXF1	TLL1	MYH6	ACTC1	GATA6	NKX2-5	ACVRL1
HP_CARDIAC_ARREST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIAC_ARREST	SCN5A	PTPN22	NOS1AP	MLXIPL	ABCC9	MYBPC3	RYR2	TMEM43	PRKAG2	TSPYL1	DSP	SCN1B	SCN4B	LMNA	SLC4A3	ELN	HLA-B	KCNQ1	ENPP1	IKZF1	TMEM270	GTF2I	TBX5	JUP	PKP2	NCF1	RBM20	RAB3GAP2	CALM1	SEMA3A	RFC2	TNNI3	AKAP9	EYA4	LIMK1	EIF4H	TOR1A	KCNJ2	APOB	TRDN	SCN10A	ABCA3	CASQ2	TTC26	LDLRAP1	CACNA2D1	CALM2	EMD	FKBP6	DPP6	ACTN2	GPD1L	HCN4	STX1A	KCND3	ANK2	BAZ1B	DNAJC19	TGFBR2	TECRL	LRP6	SYNE2	KCNE2	WAS	WIPF1	KCNJ5	KCNH2	BUD23	GBA	LDB3	DNAJC30	KCNE1	SLC2A10	ABCG5	TRPM4	ABCG8	CLCF1	GTF2IRD2	HLA-DRB1	SCN2B	LEMD2	ABCC6	CACNB2	CALM3	ABCA12	VPS37D	CPT1A	ALG10B	LDLR	PGM1	DSG2	ACADVL	BCL7B	CRLF1	CACNA1C	SCN3B	KCNE3	FHL1	MYL3	GNAI2	TGFBR1	SCNN1A	MYH7	PTEN	TANGO2	KCNE5	SLMAP	SFTPB	SYNE1	P4HA2	MYL2	SLC25A20	SLC19A2	PCSK9	TNNI3K	DTNA	MRPL12	DES	NDUFB11	TGFB3	CAV3	METTL27	ACAD9	TBL2	CLIP2	RANGRF	GTF2IRD1	HMGCL	FHOD3	CSRP3	KCNJ8	AKT1	DSC2	SNTA1	SFTPC
HP_ABNORMAL_PERICARDIUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PERICARDIUM_MORPHOLOGY	MAF	PTPN22	LACC1	SCARB2	HLA-B	IL12A-AS1	SMAD4	CTLA4	FCGR2A	HLA-DRB1	IL12A	MYBPC3	SLC12A3	IFNGR1	MEFV	ITK	UQCRFS1	IRF4	GATA6	PLVAP	FAT4	NOD2	HBA1	HBA2	C4A	CCBE1	PRTN3	TLR4	ABCC6	DNASE1	GBA	LYST	FCGR2B	DNASE1L3	HLA-DPA1	IL10	LMNA	PMM2	HLA-DPB1	KLRC4	ADAMTS3	TREX1	TNFRSF1A	IL6	MIF	TSC2	P4HA2	CDH23	CCR1	ERAP1	EPHB4	EIF2AK4	TSC1	SPP1	KIAA1109	IL23R	CALCRL	ALG9	ABCC9	IRAK1	PTPN14	CLCNKB	FAS	ACADVL	TRIM37	STAT4	AEBP1	MCM10	UBAC2	ENPP1	PRG4	RNU7-1
HP_PERICARDIAL_EFFUSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERICARDIAL_EFFUSION	MAF	SCARB2	TSC2	SMAD4	CDH23	MYBPC3	SLC12A3	EPHB4	EIF2AK4	ITK	TSC1	SPP1	UQCRFS1	KIAA1109	PLVAP	LMNA	CCBE1	CALCRL	ALG9	ABCC6	GBA	ABCC9	LYST	DNASE1L3	IRAK1	FAT4	PTPN14	CLCNKB	ACADVL	PMM2	AEBP1	HLA-DRB1	MCM10	ENPP1	STAT4	RNU7-1	ADAMTS3
HP_SUDDEN_DEATH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUDDEN_DEATH	SCN5A	PTPN22	NOS1AP	MLXIPL	RYR2	TMEM43	PRKAG2	DSP	CAV3	SCN4B	LMNA	SLC4A3	ELN	HLA-B	KCNQ1	ENPP1	IKZF1	TMEM270	GTF2I	TBX5	JUP	PKP2	NCF1	RBM20	TAB2	CALM1	RFC2	MYH7	TNNI3	EYA4	LIMK1	EIF4H	KCNJ2	APOB	TRDN	AKAP10	CASQ2	LDLRAP1	CACNA2D1	CALM2	EMD	FKBP6	DPP6	GPD1L	STX1A	TTN	SCN10A	MYH6	ANK2	BAZ1B	DNAJC19	TECRL	LRP6	SYNE2	KCNE2	WAS	WIPF1	KCNH2	BUD23	LDB3	DNAJC30	KCNE1	ABCG5	ABCG8	CLCF1	GTF2IRD2	HLA-DRB1	LEMD2	ABCC6	CALM3	ABCA12	VPS37D	CPT1A	ALG10B	CACNA1C	LDLR	PGM1	DSG2	AKAP9	ACADVL	BCL7B	CRLF1	FHL1	MYL3	MYLK	TNNT2	GNAI2	HRAS	PTEN	UBR7	SYNE1	SCN1A	HADHA	SOST	P4HA2	MYL2	PCSK9	DTNA	KCNJ5	DES	SMAD3	TGFB3	METTL27	ACAD9	TBL2	CLIP2	GTF2IRD1	FHOD3	CSRP3	AKT1	MYLK2	DSC2	SNTA1
HP_PERICARDITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERICARDITIS	MAF	PTPN22	LACC1	HLA-B	IL12A-AS1	CTLA4	FCGR2A	HLA-DRB1	IL12A	IFNGR1	MEFV	IRF4	NOD2	HBA1	HBA2	C4A	PRTN3	TLR4	DNASE1	FCGR2B	HLA-DPA1	IL10	HLA-DPB1	KLRC4	TREX1	TNFRSF1A	IL6	MIF	P4HA2	CCR1	ERAP1	IL23R	FAS	PMM2	STAT4	UBAC2	PRG4	RNU7-1
HP_ABNORMAL_TRICUSPID_VALVE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TRICUSPID_VALVE_MORPHOLOGY	MMP21	TBX1	IDS	PLD1	COL1A1	NONO	TMEM260	COX7B	COMT	KRAS	CCDC22	PCGF2	FGFR1	HIRA	MYRF	GATA6	FLNA	JPH2	MYCN	FREM1	NXN	NDUFB11	ARVCF	SEC24C	CHD7	WASHC5	RREB1	ROR2	FOXF1	GP1BB	FBN1	UFD1	AGGF1	RPS6KA3	YY1	COL5A2	MYH7	HCCS	SEMA3E	COL5A1	JMJD1C
HP_TRICUSPID_VALVE_PROLAPSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRICUSPID_VALVE_PROLAPSE	NDUFB11	PLD1	COL1A1	COX7B	KRAS	PCGF2	FBN1	FGFR1	COL5A2	FLNA	HCCS	COL5A1
HP_ENDOCARDIAL_FIBROELASTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENDOCARDIAL_FIBROELASTOSIS	CSRP3	IDUA	TAFAZZIN	SLC22A5	MCM10	GJA5	ACTN2
HP_ABNORMAL_RIGHT_VENTRICLE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RIGHT_VENTRICLE_MORPHOLOGY	TGFB1	NONO	SELENON	TTN	ITGA7	TRAPPC11	VPS33B	LAMB2	FCGR2A	PLXND1	BMPR2	TBX20	GPC3	SGCG	SREBF1	GATA6	VIPAS39	NKX2-6	DYSF	HACD1	FOXF1	IPO8	NKX2-5	MMP21	GPC4	TPM2	GATA4	CITED2	FIBP	SFTPB	MYL2	MAP3K20	GTPBP3	TLL1	PIGN	CDH2	MYH7	COLQ	ALG9	TPM3	NOTCH1	ACTA1	FLNA	STAMBP	NPHP3	MYH6	ACTC1	BTK	CFTR
HP_THIRD_DEGREE_ATRIOVENTRICULAR_BLOCK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIRD_DEGREE_ATRIOVENTRICULAR_BLOCK	MT-ATP8	LMNA	DES	PTPN11	PRKG2	SCN5A	RRM2B	MT-TL1	DEF6
HP_ABNORMAL_LEFT_VENTRICLE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LEFT_VENTRICLE_MORPHOLOGY	MT-TW	MOGS	MT-TF	SLC25A4	WDPCP	MT-CO2	KCNJ5	ABCA1	CCDC28B	GATA6	CAV3	ATP6AP2	MYOZ2	SPEG	MT-TL1	RRM2B	RYR1	MT-ND5	EGFR	MT-TV	MT-TC	MYH7	TNNI3	SDHB	HADHA	GATA5	SDHA	SCO1	ESPN	AIP	B3GAT3	SYT2	C1QBP	BIN1	ACTN2	HCN4	PLN	HADHB	GLA	MYH6	TWNK	SCN5A	MT-CO1	LZTR1	COX16	HDAC4	ABCC9	COL1A2	NOTCH1	POLG	TCAP	POMT1	LDB3	SMAD3	BBS1	MT-CYB	NEXN	RNU7-1	CHST3	MEN1	SLC25A24	HSD11B2	NONO	GAA	PTPN11	GLRX5	TTR	MTX2	COQ9	JPH2	PRDM16	POMT2	FGFR1	WDR35	TTN	ARL6	ACTC1	BUB1B	DMD	SDHD	ADAM17	COG1	MYL3	FKRP	GYS1	TNNT2	SMAD6	RIT1	BUB1	MT-ND6	COQ7	ZNF462	MT-CO3	MT-TS2	TRIP13	NKX2-5	MYL2	TPK1	POLG2	TAB2	GNB2	DTNA	CACNA1D	EPG5	IFIH1	SDHAF1	GTPBP3	MT-TQ	MYPN	ALG9	MT-TK	TRMT10C	BUB3	CEP57	MT-ND1	TLL1	SVIL	MYLK2	ZNF687	GNPTAB
HP_LEFT_VENTRICULAR_HYPERTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEFT_VENTRICULAR_HYPERTROPHY	MT-TW	MOGS	MT-TF	SLC25A4	MT-CO2	KCNJ5	ABCA1	CCDC28B	ATP6AP2	MYOZ2	SPEG	MT-TL1	RRM2B	RYR1	MT-ND5	EGFR	MT-TV	MT-TC	TNNI3	SDHB	HADHA	SDHA	SCO1	ESPN	AIP	B3GAT3	C1QBP	BIN1	ACTN2	HCN4	PLN	HADHB	GLA	TWNK	SCN5A	MT-CO1	LZTR1	COX16	ABCC9	COL1A2	POLG	TCAP	POMT1	LDB3	SMAD3	BBS1	MT-CYB	NEXN	RNU7-1	CHST3	MEN1	SLC25A24	HSD11B2	NONO	GAA	GLRX5	TTR	MTX2	COQ9	JPH2	POMT2	WDR35	TTN	ARL6	ACTC1	DMD	SDHD	ADAM17	COG1	MYL3	FKRP	GYS1	TNNT2	RIT1	MT-ND6	COQ7	ZNF462	MT-CO3	MT-TS2	NKX2-5	MYL2	TPK1	POLG2	DTNA	CACNA1D	EPG5	SDHAF1	GTPBP3	MT-TQ	MYPN	MT-TK	TRMT10C	MT-ND1	TLL1	SVIL	ZNF687	GNPTAB
HP_ABNORMAL_CARDIAC_VENTRICLE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CARDIAC_VENTRICLE_MORPHOLOGY	RERE	NDE1	ELN	SLC25A4	KAT6A	ZEB2	FCGR2A	PLXND1	UQCRFS1	CCDC28B	GATA6	XYLT1	SMG8	MGAT2	GATA4	TBX20	GPC3	COX7B	CKAP2L	MT-ND5	PEX3	TNNI3	PIEZO2	FBN2	SOS1	EIF4H	APOB	ERCC3	AIP	NKX2-5	CTU2	NDUFA10	TTC26	LDLRAP1	C1QBP	LRP2	PAH	FBLN5	PLN	TUBG1	TWNK	NR2F2	SLC2A10	RPL10	EVC2	COLQ	COL1A2	ESCO2	DEF6	POLG	ACADVL	CRKL	LMNA	LTBP1	RNU7-1	SMC3	SEMA3E	CHST3	GLRX5	FANCC	NAA10	SOX2	COQ9	SMARCB1	RARB	SGCG	SHANK3	SDHD	PEX6	RPL27	PET100	FANCB	SPTBN1	HRAS	KDM6A	DYNC2LI1	RPL35A	RPS26	WNT4	NIPBL	CD96	JAG1	TTC37	PEX12	TBX1	IFT81	KCNA1	EPCAM	TMEM94	TARS1	POLA1	POLG2	SLC19A2	PCSK9	ARID1B	RPS15A	MEIS2	TCIRG1	GTPBP3	MYPN	METTL27	DHCR7	CREBBP	STAMBP	CEP57	NKX2-1	DYRK1A	FTO	PEX16	ESS2	FIG4	FADD	MT-TF	SPEN	RPL15	RSPO2	LONP1	RAD21	CHRM3	NDUFV2	PIK3R2	HCCS	GLI3	NDUFA4	MYOZ2	EGFR	C2CD3	MT-TC	LBR	NODAL	MSH2	UBE3B	MGP	PEX26	NDUFAF2	FKBP6	BRD4	PIGL	NSD1	SMARCD1	OTUD5	CSGALNACT1	GDF3	TGDS	DGCR2	MICU1	BUD23	WDR37	NDUFA12	MYOCD	TCAP	DNAJC30	MT-CYB	PNKP	HSD11B2	FLI1	PEX14	SELENON	TTR	IGBP1	TTC7A	SCN1B	LRP5	VPS37D	EP300	TAPT1	MEG3	IGF1R	RPS19	HACD1	ADAMTS10	PDHA1	ARX	TMEM260	TRIP13	HYMAI	DVL3	KDM3B	SETD5	ECHS1	YARS1	IFIH1	CDH2	HNRNPK	MT-TK	THOC6	IFT172	GLA	AFF4	SLC19A3	COX15	CDK8	LARS2	PORCN	SVBP	MT-TW	TTN	DYNC2I1	MYBPC3	HDAC8	RAI1	ALDH18A1	KRAS	AKT3	FLNB	MYL2	MT-TL1	DSG1	CTBP1	MYH7	SIX3	SDHA	PSMD12	NUP188	TALDO1	UMPS	NIPA1	INSR	ALG12	TBC1D24	RPS28	TBX3	CDKL5	CCDC32	COX16	FANCI	RPL35	MLH1	LZTR1	ABCC9	RPL5	UFD1	SALL4	CPT2	CCBE1	POMT1	TACO1	PACS1	TFAP2B	HIRA	MYRF	FGFR1	FHL1	ARL6	PIGQ	VIPAS39	CEP290	HYLS1	ATP6V1E1	NUP107	WASHC5	COG1	MYL3	FBN1	SEMA4A	UBR7	TAB2	PMS2	UBR1	MAPK1	SYNE1	SEC24C	NOTCH1	ERCC2	EXT2	SNRPB	TLL1	MASP1	ZNF687	WT1	SLC12A2	RTL1	APC2	PEX1	TRAPPC11	PKD1L1	CPLX1	KCNJ5	ATP6AP2	ACVR2B	PEX11B	FOXF1	NEK9	SDHB	GATA5	GPC6	PEX5	EFTUD2	CRB2	BIN1	MPLKIP	NIPA2	PRKAG2	BAZ1B	UBE2A	ENPP1	ROR2	MEN1	RNU4ATAC	KAT8	CCDC22	WDPCP	MED13L	ERBB3	JPH2	NKX2-6	STRA6	TAOK1	PEX2	FKRP	SGCD	SEC31A	GPC4	ZMYM2	RPL31	MT-TS2	SF3B4	SON	RPS29	EPG5	NDUFS1	B3GLCT	RPL11	DGCR8	NEK1	TSR2	RREB1	DDX11	CLIP2	DLK1	SH3PXD2B	GTF2IRD1	RBM8A	OTUD6B	SPECC1L	BTK	CWC27	SMAD4	TGFB3	COMT	EOGT	GATA1	SKIV2L	NDUFA13	KANSL1	GTF2I	SCN2A	PKP2	NCF1	ARSL	DYSF	GDF1	RYR1	MED12	ABCA1	RPL18	AMER1	YY1AP1	SATB2	SYT2	NDUFS2	CANT1	FIBP	ARHGAP31	SCN5A	ZMPSTE24	FOXRED1	RRAS2	MYCN	GDF6	SMARCA4	SURF1	SLC29A3	GTF2E2	CHD7	CALM3	GPR101	SMN1	SMAD3	GNAO1	MID1	PHGDH	CHD4	SLC25A24	TBCK	ITGA7	SMC1A	PTPN11	MEOX1	WDR35	RPS20	LDLR	SREBF1	BUB1B	BCL7B	NDUFS4	SMG9	ARID1A	RIT1	MT-ND6	WAC	ABL1	RPS10	WDR26	TASP1	SOX11	MED25	AGL	MAP3K20	PIGN	NXN	TRMT10C	GJA1	NSD2	ACTA1	BRF1	STAG2	CDK13	SVIL	NDUFS8	TGFB1	EFEMP2	VPS33B	CCDC174	SPEG	ASXL1	DLL4	MLH3	TGFBR2	RFC2	NDUFA9	TKT	ESPN	TPM2	ACTN2	HCN4	MYH6	SFTPB	MT-CO1	XYLT2	VPS13B	PLAGL1	LTBP2	SIK1	FLNA	FGFR2	NONO	ATRX	ACTC1	GRM7	TRAIP	CFTR	ABCG8	DMXL2	TNFRSF11A	RPS24	CCND2	CASK	ECE1	KAT6B	PPP1CB	ADAM17	ADA2	MKKS	SALL1	COG6	TNNT2	BMPR1A	BUB1	TNNC1	NDUFS7	RPL3L	FAN1	ZNF462	MMP21	PALB2	NSMCE2	ANKRD11	SATB1	NDUFA2	CACNA1D	SDHAF1	WBP11	GP1BB	PQBP1	MYLK2	BCOR	GNPTAB	NOTCH3	KAT5	MOGS	MLXIPL	ARID2	NEUROD2	BRAF	RRM2B	ABCC6	MT-TV	DGCR6	HADHA	LIMK1	RPS17	RPS7	NDUFAF5	VAC14	PUF60	KMT2D	HADHB	GYG1	TP63	SIX6	HDAC4	ARCN1	ARVCF	ALKBH8	TPM3	GLI1	GMPPB	NOTCH2	IDH1	NDUFV1	RPS27	BBS1	ZNF699	ABCG5	GAA	SOX4	LAMB2	BMPR2	PRDM16	POMT2	SETD2	SMARCC2	SHOC2	BSCL2	CACNA1C	PGM1	BMP2	TET3	B3GALT6	RAC1	SMAD6	PEX19	CDC45	MT-CO3	PIK3CA	TXNL4A	GTF2H5	CITED2	SMARCE1	EVC	GNB2	SLC37A4	BUB3	TBL2	NSDHL	ZIC3	NPHP3	EXOC2	TRIM8	FGFRL1	MT-CO2	NDUFAF6	CAV3	NPPA	NDUFS3	COX6B1	DPH1	MAP2K2	TMEM270	PPP2R5D	PEX10	PEX13	DPF2	SCO1	B3GAT3	MIR17HG	PMS1	STX1A	LIPT1	NDUFB11	RAB23	MTFMT	RNF113A	RPL26	LDB3	NEXN	JMJD1C	BCR	GTF2IRD2	MTX2	NF1	FOXC2	MSH6	DMD	LETM1	MAP2K1	NKAP	GYS1	NOD2	COQ7	MMP2	IPO8	HOXA13	TPK1	SLC25A20	TCTN3	TBX5	DTNA	MMP14	SOS2	MT-TQ	LEMD2	RYR2	ALG9	PIGP	NDUFC2	SLC25A22	MT-ND1	NFIX	DNAJC19
HP_VENTRICULAR_HYPERTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENTRICULAR_HYPERTROPHY	MT-TW	MOGS	MT-TF	TTN	SLC25A4	MYBPC3	VPS33B	MT-CO2	KCNJ5	PLXND1	ABCA1	CCDC28B	MYL2	ATP6AP2	GPC3	MYOZ2	SPEG	MT-TL1	RRM2B	COX6B1	RYR1	MT-ND5	EGFR	ABCC6	MT-TV	MT-TC	DYSF	COX7B	FOXF1	TNNI3	SDHB	HADHA	SDHA	SCO1	ESPN	AIP	TALDO1	B3GAT3	GPC4	CHST3	C1QBP	BIN1	ALG12	ACTN2	HCN4	PLN	HADHB	GLA	TWNK	GYG1	SFTPB	SCN5A	ZMPSTE24	SLC2A10	MT-CO1	PRKAG2	LMNA	LZTR1	COX16	COLQ	ABCC9	COL1A2	GPR101	DEF6	POLG	NONO	CPT2	TCAP	POMT1	LDB3	SMAD3	BBS1	MT-CYB	NEXN	ENPP1	RNU7-1	MEN1	SLC25A24	HSD11B2	GAA	SELENON	GLRX5	TTR	LAMB2	MTX2	COQ9	BMPR2	JPH2	POMT2	WDR35	FHL1	ARL6	RPL5	SGCG	ACTC1	VIPAS39	NKX2-6	DMD	SDHD	CACNA1D	ADAM17	ATP6V1E1	COG1	MYL3	FKRP	GYS1	TNNT2	RIT1	NOD2	MT-ND6	TNNC1	WAC	COQ7	SGCD	IPO8	ZNF462	MT-CO3	MT-TS2	NSMCE2	NKX2-5	TPK1	SLC25A20	POLG2	AGL	DTNA	EPG5	SDHAF1	GTPBP3	MT-TQ	MYPN	PIGN	MYH7	MT-TK	TRMT10C	NOTCH1	STAMBP	MT-ND1	TLL1	NPHP3	SVIL	ZNF687	GNPTAB
HP_MITRAL_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MITRAL_STENOSIS	CHST3	PLD1	XYLT2	NOTCH2	GBA	NOTCH1	ABCC6	ZMPSTE24	XYLT1	UBE2A	LMNA	LZTR1	ZNF148	NKX2-5	HAAO	ADAMTSL2	GJA1	FBN1	MCTP2	SYT2
HP_HIGH_OUTPUT_CONGESTIVE_HEART_FAILURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_OUTPUT_CONGESTIVE_HEART_FAILURE	RYR1	CACNA1S	ENG	RASA1	HBB	EPHB4
HP_RESTRICTIVE_CARDIOMYOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESTRICTIVE_CARDIOMYOPATHY	ENPP1	DES	TTR	KIF20A	MYL3	XYLT2	ABCC6	TNNI3	PIGT	XYLT1	MYL2	ANK1	EPB42	MCM10	SLC4A1	SPTB	PDGFRA	ACTC1	SPTA1
HP_PROGRESSIVE_HEARING_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_HEARING_IMPAIRMENT	ALMS1	MT-TW	MT-TF	MT-CO2	MIR96	GIPC1	NLRP3	DIAPH1	MT-TL1	GSDME	GATA3	MYO6	MT-ND5	FGF3	MT-TV	MPZL2	TWNK	MT-TC	SYNE4	IARS2	WFS1	MT-ND6	SP7	MCM2	SERPINB6	SCD5	MPZ	NOTCH2NLC	ATP1A3	GJB6	TBC1D24	MT-CO3	DMXL2	MT-TS2	POU3F4	ARSG	TPRN	MYO3A	GFER	MT-CO1	OPA1	LARS2	MT-TQ	TIMM8A	GJB2	MT-TK	P2RX2	PEX11B	MT-ND1	ACTG1	MT-CYB	MYH14	BDP1	GRXCR1	POLR3GL
HP_ABNORMALITY_OF_THE_PANCREAS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PANCREAS	RERE	IL12A-AS1	OFD1	DKC1	IL12A	KLF11	YY1	GNA11	PDX1	FCGR2A	CDKN2B	STUB1	GATA6	CDKN1C	GPC3	PRKCSH	FAH	CDK4	INS	CP	CTLA4	KCNQ1OT1	BCKDHA	RAD51D	NBN	TCF4	CDKN1A	DZIP1L	HLA-B	GPC4	GCK	ERAP1	MT-TH	BAP1	B9D1	ALG9	MEN1	CTC1	MYCN	MT-CO1	SLC29A3	LPL	MT-ND1	CLCNKB	STAT4	RNU7-1	NADK2	BRCA2	EWSR1	CAV1	DBT	SBDS	APC	NEUROD1	RPS20	CHEK2	MT-TF	PTF1A	MIF	PRSS1	TKFC	HLA-DPA1	TGFB1	ALMS1	TP53	RTEL1	LRP5	EPCAM	HNF1B	MT-CO2	TELO2	PRDM16	BLK	CTRC	JAG1	PRKAR1A	FLI1	ATP8B1	MT-TL1	DNAJC21	GCLC	TERF2IP	MDM2	ACD	SPINK1	TF	DIS3L2	PTRH2	NPHP3	HMGCL	CPA1	WDR19	APOE	PKD1	PKHD1	GANAB	CDC73	RABL3	ASXL1	MYC	CEACAM6	INSR	LMF1	IFT172	CDKN2A	GNAS	CASR	MLH3	USB1	TLR4	AP2S1	TGFBR2	MSH2	COL14A1	PNPLA2	SIK3	KRAS	PKD2	KCNJ11	SLC25A13	POT1	PCCB	FANCD2	SRP54	GLIS3	AAGAB	TERC	NFS1	LMNA	TCTN1	SLC6A14	ATP6AP1	ABCB4	CFTR	BARD1	BICC1	CYBC1	MMUT	MADD	IFNGR1	ABCB11	PCCA	RARB	C4A	PRTN3	TMEM107	BMPR1A	CBS	HAMP	EIF2AK3	DNAJB11	TMEM67	ARX	FAN1	HLA-DPB1	MKS1	NSMCE2	CC2D2A	KCNN4	YARS1	TERT	IL23R	GSTM3	CDKN1B	MT-ND4	SLC16A1	CEL	CIDEC	FLNB	EFL1	DYNC2I1	MT-ND6	STK11	STAT3	ABCC8	TMEM216	GCGR	G6PC1	ABCC6	APOC2	SMARCAL1	IGF2	TCTN2	HNF4A	PAX4	UBR1	MT-TW	NR1H4	PUF60	PRKCZ	UCP2	CSPP1	TMEM237	HJV	SLC26A9	UBE4B	MLH1	BRCA1	PALLD	SEC63	NOTCH3	HOXD13	VHL	DCTN4	UBAC2	CNOT1	PALB2	RAD51	RFX6	SLC12A3	PDGFRB	SLC37A4	MEFV	CEP290	KCNAB2	BSCL2	NPM1	SMAD4	AGPAT2	XPNPEP3	EDNRA	PRSS2	SEMA4A	FOXF1	FGFR2	MMP23B	RPGRIP1L	MRE11	MT-CO3	SLC7A7	SLC9A3	SETBP1	PDPN	CCR1	BCKDHB	PMS2	APPL1	RPGRIP1	HNF1A	PIK3CA	NHP2	PARN	TMEM231	PTPN22	B9D2	HSPG2	SPEN	RNF43	RAD51C	CLCA4	IKZF1	HFE	RECQL4	IL10	SEMA4D	HMOX1	MT-TS2	BRIP1	MAFA	PMS1	STX1A	PTEN	TCTN3	LHX1	CASZ1	MT-ND5	LBR	TXNDC15	RMRP	BRD4	ENPP1	CCND1	CEACAM3	PPARG	MSH6	NOP10	GPR35	LUZP1	STRA6	NTHL1	MST1	MGMT	KCNQ1	CTNS	KLRC4	ACTG2	TTC37	MITF	TINF2	RAD50	GABRD	SKI	WRAP53	SLC11A1	NEK1	WT1	CDKN2C	NDUFS3	COX4I2	NUTM1	FAS	MC1R	SERPINA1	RBM8A	MT-TQ
HP_PANCREATITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATITIS	TGFB1	IL12A-AS1	CDC73	MT-ND6	IL12A	GNA11	FCGR2A	STUB1	LMF1	SPINK1	IFT172	PRSS1	GNAS	CASR	GCGR	G6PC1	IKZF1	TLR4	CTLA4	APOC2	AP2S1	SLC37A4	CFTR	SMARCAL1	SLC25A13	IL10	BCKDHA	SEMA4D	MT-TS2	TCF4	MT-TW	PNPLA2	HLA-B	ERAP1	MT-TH	PCCB	MEFV	MT-CO1	LMNA	LPL	MT-ND1	MT-ND5	NFS1	STAT4	UBAC2	RNU7-1	NADK2	ABCB4	CYBC1	PPARG	MMUT	IFNGR1	CAV1	DBT	BSCL2	PCCA	GPR35	AGPAT2	XPNPEP3	C4A	MT-TF	CTRC	PRTN3	MST1	PRSS2	TKFC	CBS	HLA-DPA1	ALMS1	HLA-DPB1	KLRC4	MT-CO3	SLC7A7	NSMCE2	ACTG2	CCR1	MT-CO2	BCKDHB	FLI1	ATP8B1	IL23R	MT-TL1	NDUFS3	MT-ND4	FAS	HMGCL	CPA1	MT-TQ	CIDEC	APOE	PTPN22
HP_ANNULAR_PANCREAS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANNULAR_PANCREAS	RERE	SIK3	RFX6	FLI1	SETBP1	PDPN	PRKCZ	HSPG2	ASXL1	SPEN	TELO2	PRDM16	FANCD2	GABRD	SKI	KCNAB2	UBE4B	RARB	MYCN	CASZ1	LUZP1	STRA6	FOXF1	RECQL4	MMP23B
HP_ACUTE_PANCREATITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_PANCREATITIS	HMGCL	NSMCE2	LMNA	CYBC1	BSCL2	APOE	RNU7-1	AGPAT2
HP_PANCREATIC_CYSTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATIC_CYSTS	GANAB	B9D2	PKD2	BICC1	OFD1	VHL	CC2D2A	B9D1	CSPP1	CEP290	TMEM237	RPGRIP1	ALG9	GLIS3	TMEM216	TCTN3	XPNPEP3	PKHD1	TMEM107	WDR19	TCTN2	NPHP3	TXNDC15	RBM8A	TCTN1	DNAJB11	TMEM67	CCND1	DZIP1L	TMEM231	RPGRIP1L	PKD1	MKS1
HP_PHIMOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHIMOSIS	DKC1	APC2	FERMT1	CENPT	CTCF	SETD2	PQBP1	NSD1	ERMARD
HP_NASAL_CONGESTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NASAL_CONGESTION	HYDIN	ZMYND10	DRC1	DNAI1	CCDC40	RSPH3	MCIDAS	DNAH5	GNAS	STK36	GAS2L2	CCDC103	DNAAF11	CFAP300	FGFR1	ARSL	DNAAF2	SPAG1	ODAD1	DNAL1	TTC12	CCDC39	CCNO	RSPH9	ANKH	DDC	ODAD2	GJA1	CFAP298	DNAAF1	FOXJ1	NEK10	DNAAF4	ODAD3	ODAD4	DNAAF5	LRRC56	GAS8	RPGR	RSPH4A	RSPH1	DNAAF3	DNAH9	CCDC65	DNAJB13	OFD1	DNAH11	NME8	DNAI2	CFAP221	SPEF2	CARMIL2	DNAH1	DNAAF6
HP_ABNORMALITY_OF_THE_SPLEEN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_SPLEEN	IFNGR1	IL12A-AS1	EPB41	IL12A	CTSA	DDRGK1	CCDC40	FCGR2A	RRAS	GPC3	AGA	FAH	PIK3R1	RIT1	TCIRG1	SUMF1	PNP	TGFB1	KATNB1	TTC26	FGG	ATM	PSAP	NBEAL2	USB1	TPI1	ERAP1	B9D1	CLCN7	UMPS	TWIST1	CD3D	RSPH1	IKZF3	PEX7	CTC1	MYCN	PHKB	OFD1	ESCO2	GBA	RIPK1	PRF1	SPTA1	STAT4	HBA1	BCR	IFIH1	PSTPIP1	CASP8	RNU7-1	HSD3B7	HBA2	ABCD3	NLRP3	CALR	HBB	SH2B3	STIM1	JAK1	RSPH9	SGSH	LYST	ALMS1	RTEL1	IL1RN	MIF	TTC37	FUCA1	UROS	ODAD3	RNASEH2C	JAK2	PIK3CA	SLC4A1	XK	DNAJB13	RHAG	SLCO2A1	NPC2	NPHP3	AKR1D1	NCF4	DCDC2	SP110	PKHD1	LACC1	AIRE	IDS	MPL	MYC	DNAH5	ADAR	LEMD3	CCDC39	DNAAF11	TBX1	GBE1	MAN2B1	SPAG1	KCNH1	ODAD1	RABL3	FAM111A	KRAS	NGLY1	GALE	NODAL	CD19	CTLA4	NLRC4	ADAMTS3	TNFRSF1A	MEGF8	PIGM	MS4A1	TPP2	IL2RB	GLIS3	ICOS	CCDC65	BTNL2	B4GALT1	ATP8B1	ATRX	ERCC6	MICU1	ITCH	TERC	ABCB11	LMNA	SPTB	ATP6AP1	SH2D1A	RNU4ATAC	STX11	IDUA	NLRP1	FASLG	VPS13A	SNX10	TET2	HLA-DRB1	GNE	FAS	CCND1	IFNG	GUSB	NLRP12	RHD	LIPA	RARB	C4A	BRCA2	CR2	TMEM107	UNC13D	TFE3	TMEM67	ADA	TNFRSF13B	SLC29A3	MKS1	RPSA	APOA1	IARS1	ZNFX1	B2M	ANK1	YARS1	SMPD1	PRKCD	LIG4	COG4	IFT172	RNASEH2A	GATA1	ADA2	ATP6V1B2	MVK	CAV1	PTPN11	CASK	TNFRSF11A	RINT1	ZMYND10	LBR	SLC25A13	DRC1	ASAH1	APOC2	RAF1	CTBP1	TCTN2	OSTM1	GLB1	CC2D2A	GSN	TALDO1	PRKCZ	PTPRC	CENPF	INPP5E	CSPP1	CCDC32	PSMG2	TMEM237	STEAP3	FGFR2	BRCA1	NCF2	CD247	FGA	TNFSF12	UFD1	UBAC2	PALB2	CD27	HIRA	MCIDAS	CEP290	MYRF	KCNAB2	ERCC8	NPM1	SMAD4	AGPAT2	COG1	HYLS1	STAT3	SOS1	TP53	RPGRIP1L	PSMB4	APOE	CD70	PDPN	KLF1	PHKA2	CCR1	HGSNAT	RAB23	NRAS	SOS2	SEC24C	CDAN1	NOTCH1	NHP2	WT1	TMEM231	DNAAF6	RTL1	RFWD3	B9D2	RUNX1	HSPG2	CPLX1	CARD11	ALPK1	NCF1	ITK	CLDN1	EPB42	G6PC3	RAG2	ACVR2B	ZAP70	DCLRE1C	SPEN	NFKB2	FOXF1	CCNO	MAGT1	RASGRP1	OCLN	FOXJ1	ASXL1	PSMB9	DNAAF5	RPGR	MEFV	DGUOK	CHD7	IL2RA	MEG3	TCTN3	NEU1	RAC2	KPTN	RRAS2	CD81	TXNDC15	DNAI2	SNX14	SYK	PPARG	CBL	ATP7B	NOP10	FMO3	SCYL1	NOD2	MMUT	GPR35	RHCE	STRA6	CCBE1	FCHO1	SOX10	PTEN	RELN	GAA	STXBP2	GPC4	SOCS1	NEK10	HBG1	RAG1	SETBP1	IL7R	TINF2	WDR1	CCDC115	GPIHBP1	CA2	RREB1	SLC7A7	COX4I2	RBM8A	RMRP	RAB27A	COG7	HYDIN	PKLR	CYP7B1	DKC1	COMT	SKIV2L	BRAF	LPIN2	DPM1	PIK3CD	G6PD	DNAAF2	TCF4	MED12	PSMB10	ABCA1	DZIP1L	HLA-B	ALG1	ODAD4	PTPN22	GALK1	LRRC56	CD28	XIAP	CASP10	DNAI1	LPL	TNFRSF4	FGB	GCLC	PHKG2	DNAH1	NAGLU	WDR35	TRPV6	MRAS	ZEB2	TNFRSF1B	CFAP300	HPGD	TRNT1	KCNN3	IL6	SLC17A5	BTD	STAT1	SLC2A1	PRDM16	CPOX	ABCB4	HK1	HBG2	NSD2	ABCG8	AKT1	ALG9	GATA2	LRBA	MYD88	BCL6	SCARB2	HEXB	RERE	BCL2	SEC23B	TLR4	DNASE1L3	KCNN4	PIEZO1	HAVCR2	GYPC	CYBB	PTPN2	HJV	FERMT3	DNAAF4	GLRX5	SPRED2	LYZ	SLC30A10	JAK3	HFE	NCKAP1L	FARSA	CDIN1	AP3B1	TCTN1	MCM10	FOXP3	CFTR	SLC39A4	CYBC1	BMP2	UROD	SAMD9L	ABL1	GAS2L2	SRSF2	COG6	COG5	ANKRD55	DHCR24	ODAD2	MPIG6B	PEPD	CFAP410	MMP21	ARSB	USP53	DLK1	PDGFRA	HAMP	TERT	IL23R	NEK8	F5	GP1BB	MCM4	PHYH	OTC	NDE1	CFAP221	GNPTAB	MOGS	PLEKHM1	GPD1	IRF4	TMEM216	INPPL1	CTSK	TTC12	VPS33A	PSMB8	HMGA2	CFAP298	HSD17B4	IRF8	ALDOA	GAS8	MNS1	TNFRSF13C	CD40LG	DNAAF3	UBE4B	BACH2	ARVCF	NOTCH2	CASR	TBXAS1	SPEF2	ZNF699	AP3D1	GDF1	RNASEH2B	SC5D	CD3E	RSPH3	NFKB1	BSCL2	SAMD9	MMP23B	DNAAF1	KIF3B	PALLD	TNFSF11	GNB2	RPGRIP1	SLC37A4	ZIC3	PARN	ERBB3	ALAS2	GIMAP5	SAMHD1	EXOC2	CYBA	RASA2	FGFRL1	GNS	LCAT	STK36	CCDC47	IL2RG	CAVIN1	DYNC2LI1	DNAL1	FAT4	VPS45	BPGM	IL10	SEMA4D	CDON	PIK3C2A	NDUFS4	PNPLA2	RSPH4A	CDKN2A	THPO	DNAH9	HMOX1	GP1BA	CASZ1	LZTR1	JMJD1C	GPI	LETM1	NPC1	CCDC103	LAT	LUZP1	MST1	SF3B1	CFC1	CFAP45	CTNS	KLRC4	ORAI1	TREX1	GABRD	SKI	WRAP53	COX10	WNT3	DNAH11	PEX2	NME8	KIT
HP_SPLENOMEGALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPLENOMEGALY	IFNGR1	FASLG	IL12A-AS1	PKLR	EPB41	CYP7B1	CTLA4	DKC1	IL7R	COMT	IL12A	CTSA	DDRGK1	FCGR2A	SKIV2L	BRAF	RAG2	LPIN2	GBA	DPM1	PIK3CD	GPC3	AGA	FAH	HBB	PIK3R1	TCIRG1	G6PD	SUMF1	SH2B3	PNP	TCF4	MED12	PSMB10	ABCA1	TGFB1	DZIP1L	TTC26	HLA-B	RHAG	GPC4	ATM	RAG1	PSAP	NBEAL2	ALG1	USB1	PTPN22	TPI1	ERAP1	GALK1	CLCN7	UMPS	CD28	CD3D	IKZF3	XIAP	PEX7	CTC1	CASP10	PHKB	SLC29A3	NEU1	LPL	RIPK1	PRF1	TNFRSF4	SPTA1	RNASEH2C	STAT4	HBA1	BCR	IFIH1	GCLC	PHKG2	PSTPIP1	CASP8	RNU7-1	HSD3B7	HBA2	NAGLU	ABCD3	MPL	NLRP3	WDR35	CALR	TRPV6	STX11	TNFRSF1B	HPGD	TRNT1	JAK1	SGSH	LYST	ALMS1	KCNN3	JAK2	RTEL1	IL1RN	IL6	MIF	SLC17A5	TTC37	FUCA1	UROS	BTD	STAT1	SLC2A1	PIK3CA	SLC4A1	CPOX	ABCB4	XK	HK1	SLCO2A1	HBG2	NPC2	DCDC2	ABCG8	AKR1D1	NCF4	AKT1	ALG9	GATA2	LRBA	MYD88	SP110	PKHD1	BCL6	LACC1	SCARB2	IDS	HEXB	BCL2	MEFV	ADAR	SEC23B	LIPA	FAS	TBX1	GBE1	TLR4	MAN2B1	KCNH1	DNASE1L3	KCNN4	RABL3	TET2	NGLY1	GALE	CD19	PIEZO1	HAVCR2	GYPC	CYBB	NLRC4	ADAMTS3	TNFRSF1A	PTPN2	HJV	FERMT3	GLRX5	LYZ	PIGM	MS4A1	SLC30A10	TPP2	CR2	IL2RB	JAK3	HFE	NCKAP1L	GLIS3	ICOS	FARSA	BTNL2	B4GALT1	ATP8B1	CDIN1	ATRX	ERCC6	MICU1	ANK1	AP3B1	ITCH	TERC	ABCB11	LMNA	SPTB	FOXP3	ATP6AP1	SH2D1A	CFTR	RNU4ATAC	SCYL1	IDUA	SLC39A4	NLRP1	VPS13A	CYBC1	SNX10	BMP2	RPGRIP1L	HLA-DRB1	GNE	UROD	CCND1	IFNG	SAMD9L	GUSB	NLRP12	RHD	ABL1	C4A	SRSF2	BRCA2	COG6	COG5	ANKRD55	DHCR24	TP53	IL2RA	UNC13D	TFE3	MPIG6B	ADA	TNFRSF13B	PEPD	CFAP410	APOA1	ARSB	IARS1	ZNFX1	USP53	DLK1	B2M	YARS1	PDGFRA	HAMP	TERT	SMPD1	IL23R	PRKCD	LIG4	COG4	IFT172	F5	GP1BB	RNASEH2A	GATA1	MCM4	ADA2	ATP6V1B2	ASXL1	PHYH	MVK	OTC	CAV1	FGA	CASK	GNPTAB	TNFRSF11A	MOGS	RINT1	PLEKHM1	TMEM67	LBR	SLC25A13	GPD1	IRF4	INPPL1	ASAH1	APOC2	CTSK	OSTM1	GLB1	VPS33A	CC2D2A	PSMB8	TALDO1	HSD17B4	PTPRC	IRF8	INPP5E	ALDOA	RAB27A	PSMG2	TNFRSF13C	STEAP3	CD40LG	FGFR2	BACH2	BRCA1	NCF2	ARVCF	CD247	TNFSF12	NOTCH2	NRAS	UFD1	CASR	UBAC2	TBXAS1	ZNF699	PTEN	PALB2	AP3D1	CD27	RNASEH2B	SC5D	CD3E	HIRA	NFKB1	ERCC8	BSCL2	NPM1	SMAD4	AGPAT2	COG1	STAT3	PSMB4	APOE	SLC7A7	CD70	KIF3B	PALLD	TNFSF11	KLF1	PHKA2	CCR1	HGSNAT	GNB2	SLC37A4	MKS1	SEC24C	CDAN1	NOTCH1	NHP2	PARN	ERBB3	NPHP3	ALAS2	GIMAP5	SAMHD1	CYBA	RTL1	RUNX1	CARD11	ALPK1	GNS	NCF1	ITK	CLDN1	LCAT	EPB42	G6PC3	ZAP70	DCLRE1C	NFKB2	CCDC47	IL2RG	STXBP2	CAVIN1	DYNC2LI1	FAT4	RASGRP1	VPS45	BPGM	IL10	MAGT1	SEMA4D	DGUOK	KRAS	OCLN	PIK3C2A	PSMB9	NDUFS4	PNPLA2	CDKN2A	THPO	CHD7	MEG3	GP1BA	RAC2	KPTN	CD81	SNX14	SYK	JMJD1C	PPARG	CBL	GPI	ATP7B	NOP10	FMO3	NOD2	MMUT	GPR35	RHCE	NPC1	CCBE1	LAT	FCHO1	MST1	SOX10	SF3B1	GAA	CTNS	SOCS1	KLRC4	HBG1	TREX1	TINF2	WDR1	WRAP53	CCDC115	GPIHBP1	CA2	COG7	COX10	RREB1	PEX2	COX4I2	RBM8A	RMRP	KIT
HP_ACCESSORY_SPLEEN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACCESSORY_SPLEEN	B9D2	CC2D2A	CENPF	CPLX1	FGFRL1	B9D1	CSPP1	CEP290	MYRF	TMEM237	RPGRIP1	YARS1	TMEM216	MYCN	TCTN3	LETM1	MKS1	HYLS1	CTBP1	ESCO2	TMEM107	NSD2	TCTN2	TXNDC15	TCTN1	TMEM67	WT1	ATP6AP1	TMEM231	RPGRIP1L	EXOC2
HP_POLYSPLENIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYSPLENIA	HYDIN	GPC3	RFWD3	ZMYND10	GDF1	DRC1	DNAI1	CCDC40	RSPH3	MCIDAS	DNAH5	WDR35	CCDC39	STK36	GAS2L2	CCDC103	DNAAF11	CFAP300	DNAAF2	SPAG1	ODAD1	DNAL1	TTC12	CCNO	RSPH9	CFC1	ODAD2	CFAP45	CDON	GPC4	CFAP298	MEGF8	MMP21	DNAAF1	FOXJ1	NEK10	DNAAF4	ODAD3	ODAD4	DNAAF5	LRRC56	GAS8	RPGR	RSPH4A	RAB23	YARS1	RSPH1	DNAAF3	DNAH9	CCDC65	MYCN	DNAJB13	OFD1	DNAH11	NME8	NPHP3	ZIC3	DNAI2	CFAP221	SPEF2	DNAH1	DNAAF6
HP_SINGLE_VENTRICLE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SINGLE_VENTRICLE	NODAL	NSDHL	ZIC3	GDF1	SIX3	STRA6
HP_VESTIBULAR_DYSFUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VESTIBULAR_DYSFUNCTION	NF1	ARSG	SCN5A	PTPN22	IL12A-AS1	MPL	IL12A	RYR2	RET	GJB3	BCOR	CACNA1A	JAK2	SLC1A3	KCNJ10	STAT3	NKX2-5	USH1C	SDHA	SCN2A	GCGR	HLA-B	GJB2	TWNK	RARA	FXN	TLR4	COCH	SDHAF2	RFC1	SLC25A11	TIMM8A	ATXN3	SH2B3	NOP56	TET2	NPPA	KCNA1	IL10	VHL	USH1G	SOX6	MED12	CLRN1	ESPN	NAGA	TNFRSF1A	MYO7A	PML	PCDH15	CALM2	CDH23	GCDH	PDGFB	ERAP1	STAT5B	GYG1	TRDN	DNMT3A	NF2	THPO	GJB6	DLST	COL3A1	CLIC5	SDHC	TECRL	NABP1	ADA2	CLCNKB	STAT4	UBAC2	CEP78	SDHB	CCND1	CIB2	ATP1A2	TRPM4	PTPRQ	MYO6	CNNM2	DKK1	HLA-DRB1	NUMA1	SLC12A3	IFNGR1	MEFV	SLC26A4	CALM3	PRKAR1A	CACNB4	CALM1	CTNNB1	POLG	BRAF	NARS2	C4A	EGF	SLC39A14	SCN1B	MAX	RYR1	TBL1XR1	AIP	FH	DBH	MT-TS2	ALMS1	MDH2	KLRC4	CASQ2	IRF2BP2	JAG1	P4HA2	FOXI1	MYL2	TPK1	CCR1	MEN1	NPM1	KIF1B	HARS1	FIP1L1	OTOGL	FLI1	IL23R	SCN1A	JUP	TMEM127	EPAS1	GLA	PRRT2	CACNA1G	EPOR	SDHD	FAS	MVK	GATA2	ZBTB16	MYD88
HP_VESTIBULAR_HYPOFUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VESTIBULAR_HYPOFUNCTION	ARSG	ESPN	CIB2	MYO7A	USH1C	HARS1	OTOGL	CLRN1	MT-TS2	CEP78	USH1G	PCDH15	CDH23
HP_HIGH_FREQUENCY_SENSORINEURAL_HEARING_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_FREQUENCY_SENSORINEURAL_HEARING_IMPAIRMENT	CEP250	ZMPSTE24	LMNA	FGF3	FKBP14	ASAH1
HP_PES_CAVUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PES_CAVUS	COA7	NTNG2	HARS1	MECP2	MYO9A	AGRN	ZMIZ1	OPA1	PYROXD1	TRMT1	CHCHD10	GARS1	GBA	KANSL1	FBXO38	DNM1L	INF2	PMP22	PCNA	LAMP2	LMNA	FXN	EZH2	DYSF	DOCK3	TRAPPC11	WARS1	RAB11B	PRPS1	MED27	JAG1	IDUA	NEFL	PEX7	SACS	MMP2	BIN1	PEX5	SLC25A1	MSTO1	ATP7A	REEP2	NDNF	PDK3	FBLN5	RSPRY1	REEP1	SPG7	C19orf12	ACTL6B	CHP1	LRSAM1	ATG7	NIPA1	EMC10	DPYSL5	ATP13A2	AAAS	CNTNAP2	SBF2	SYNJ1	MFN2	FDX2	PTPN23	TRIP12	ITGA7	EED	SH3TC2	PHYH	ERCC5	MAPK8IP3	KCNMA1	RTN2	APTX	WDR73	HS6ST1	CAV3	GJB2	KY	CHD7	KNSTRN	SYT2	FBXW11	WDFY3	KCNN3	BPTF	NDRG1	WDR26	TCF20	MTRFR	DUSP6	TH	MED25	FLRT3	REPS1	TSPOAP1	NARS1	MAP3K20	GJC2	RAB7A	GBA2	PIGN	BCORL1	RLIM	PDXK	GRIN2A	FGF8	SOX10	ACTA1	GNB4	ZFYVE26	CCDC32	IQSEC2	FGD4	MAP1B	MYT1L	VAMP1	ALDH18A1	DYNC1H1	TDP1	VCP	SPEN	GBF1	BAG3	ERLIN2	PRX	GCH1	MRE11	IBA57	COL13A1	NLRP3	DCC	ATP1A3	SPEG	NSUN2	RYR1	USP9X	SLC12A2	FLRT1	DNM2	LBR	PNKP	MORC2	MYPN	SLC25A46	UBR7	KMT2E	PROKR2	DDHD1	TPM2	SLC5A7	CPT1C	GRIA4	MYH7	FGFR1	HPDL	ATL1	RUSC2	DHH	SLC33A1	CCDC141	DMXL2	ANO10	PEX10	GTF2E2	FGF14	PODXL	CTDP1	VPS13D	TCF7L2	HSPB8	PUS7	POLG	HDAC8	GALC	KCNH1	SYNCRIP	HSPD1	KLHL41	CAPN1	VWA1	MPZ	AGO2	UCHL1	PIK3CD	SPG11	HACD1	B4GALNT1	PDHA1	SPAST	RNF2	BSCL2	GJB1	FLNA	NTNG1	MTTP	SIGMAR1	SPTBN1	CNOT3	SETX	PROK2	MME	IFIH1	KAT8	SETD1A	ATP6V1B2	KLC2	PQBP1	TTPA	FBN1	WDR11	AIFM1	LITAF	ATP1A1	SPTLC1	VPS13A	XRCC4	DNAJC6	KDM4B	WASHC5	IFRD1	CYP7B1	PSMD12	MED13	TACR3	HADHA	CLCN3	LAS1L	KBTBD13	TRPV4	HADHB	TPM3	OPA3	FEZF1	GDAP1	MAFB	CYP27A1	KPNA3	KIF5A	TNRC6B	SUZ12	SNAP25	CUL4B	PEX2	FAR1	EGR2	TANC2	TWNK	CHMP1A	HK1	DDX6	SORD	BCAS3	CHAT	FHL1	SEMA3A	MADD	PMPCA	PALS1	ACTL6A	GAN	COQ8A	KARS1	IL17RD	MYL2	ANOS1	LONP1	NEFH	HS2ST1	ANKRD17	SRCAP	ALS2	NEB	HSD17B4	PI4KA	PLP1	SATB1	FGF17	HESX1	DNAJB2	HTT	UBAP1	ZBTB20	COASY	SLC18A3	UBE2A	L1CAM	SYNE1	HSPB1	LMBRD2	HINT1	SELENON	SVBP	PCGF2	GMPPA	NF1	PLEKHG5	DCAF8	PMP2	TTN	SLC6A8	SPART	AARS1	KIF1B	WASF1	ABHD12	COX6A1	MAP3K7	NSD1	CARS1	HUWE1	B3GLCT	FITM2	SPRY4	IDS	VPS41	TRIM2	MPV17	TRAPPC4	NFIX	RET	JARID2
HP_TALIPES_EQUINOVARUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TALIPES_EQUINOVARUS	ELN	B9D1	TGFB3	COMT	UNC80	ALDH18A1	GPC3	COL6A1	NT5C2	ENTPD1	EZH2	HSPG2	EBP	COL6A2	MTMR2	RAB11B	FBN2	TOR1A	NELFA	IGHMBP2	AMER1	SATB2	CTU2	GPC4	BIN1	RBM10	PEX5	GTPBP2	LETM1	MYH7	TAFAZZIN	FIBP	MYLPF	DYNC2H1	DSE	ARHGAP31	CHRNG	CC2D2A	ERBB2	BRPF1	COLQ	CHD7	BICD2	NADSYN1	SALL4	KY	SLC26A2	COL5A2	GDAP1	SLC6A9	SBF2	TNNI2	SEMA3E	CHST3	GLE1	ZSWIM6	JPH1	EHMT1	DPYS	KDM5C	ITGA7	SNX14	EED	IRF6	NALCN	B4GALT7	SNCA	CPLX1	KIDINS220	MED13L	WDR73	COG4	SKI	CLCN3	TGFBR1	SPTBN1	HRAS	AP4E1	COL6A3	AP4M1	SMOC1	ECEL1	HACE1	TH	NDE1	POR	ATRX	TSPOAP1	MAP3K20	SMAD3	PLOD2	TGFBR2	NSD2	ACTA1	PTRH2	TMCO1	FAT4	FGD4	FKBP14	TCTN2	FLNA	HBA1	FBXO7	PLOD1	ADAT3	GDF5	KAT6B	CHRM3	GCH1	SPEG	RYR1	TBX1	RAB3GAP2	FKBP10	TMTC3	SYT1	COG8	ERCC5	COL2A1	MEGF8	MYH8	COL1A1	TPM2	BMPR1B	PIGB	MYMK	ADGRG6	RUSC2	OTUD5	STAC3	MTRFR	TGDS	CTBP1	ATP6V1A	REV3L	MYH3	CTDP1	FLNB	TRAIP	SCYL1	EVC	LGI4	ERGIC1	PEX26	TWIST2	PLOD3	SOX9	DST	CRLF1	VWA1	ATAD1	GRIA2	LMX1B	HACD1	PEX1	SMARCA2	TFE3	FUZ	TP63	PIEZO2	MTTP	TRPV4	FKTN	PSAT1	HSPB1	IFIH1	TAF1	ALG14	COQ8A	ORC6	PLXND1	HNRNPK	NEK8	OTUD6B	GP1BB	BCOR	AMMECR1	POLR3GL	GNPTAB	CANT1	RSPO2	PIGG	RINT1	DONSON	RAI1	RIPK4	ALG8	SNRPN	PMP22	USP8	MCTP2	EIF4A3	LIMS2	HSD17B4	ALG12	DCHS1	KIF1A	ZNF148	DES	AP4B1	EXOC6B	NECTIN1	ARVCF	TPM3	SUZ12	UFD1	EDEM3	CCBE1	NSD1	ZNF699	ORC1	CHMP1A	HK1	VANGL1	GPX4	SC5D	LAMB2	COL3A1	HIRA	CRIPT	SETD2	COL1A2	SAMD9	SF3B4	COG1	HYLS1	ATP6V1E1	B3GALT6	SMS	IHH	PLEKHG5	TBC1D23	GAN	GUSB	PITX1	MAP3K7	STXBP1	GSC	MYL2	RAB23	COL12A1	MUSK	SEC24C	MAPK1	MAFB	CHN1	NDRG1	WNT7A	MPZ	APC2	ALG3	LIFR	GAD1	FGFRL1	CTH	ANK1	H1-4	ZFYVE27	CCDC47	MEGF10	RECQL4	NEK9	DYM	B3GAT3	OFD1	SCARF2	MYPN	KIAA1109	HBA2	GZF1	MAN2B1	PI4KA	ITGA8	EIF2S3	AP4S1	EVC2	UBE2A	L1CAM	SLC25A19	DHCR24	TBX4	ATP6V0A2	TNNT3	SHROOM4	JMJD1C	SELENON	SYNE1	MFSD2A	TTN	PRUNE1	NKAP	CHST14	FBLN5	TBX15	C12orf57	SLC35A2	BMPER	SEC31A	TGFB2	IPO8	COL5A1	ZC4H2	FOXG1	SETBP1	MYBPC1	ALG9	RREB1	TRIM2	PEX2	SH3PXD2B	ARSI	RBM8A	CEP55	MSX1	GLI3	DHX16
HP_PES_PLANUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PES_PLANUS	ELN	TGFB3	TGFBR1	EXOC6B	PYROXD1	CLCN4	RAD51	CHCHD10	MAT2A	MGAT2	HK1	KANSL1	AP4B1	AGA	GTF2I	FANCC	NCF1	HSPG2	SPRTN	ALG2	FBXO11	GABRA1	EIF4H	TGFB1	TRIO	FANCF	ERCC4	SBF1	FANCD2	MMP2	SCN9A	NDNF	RSPRY1	GARS1	PACS1	SLC29A3	COL1A2	TGFBR2	CRKL	FANCL	COL5A2	SMAD3	TBX4	CHST3	ADGRV1	WAC	TPM3	RYR1	B4GALT7	SBF2	AEBP1	GFPT1	MAD2L2	SLC10A7	PHF8	ZEB2	ARHGEF6	FANCA	BCL7B	HS6ST1	GABRG2	SKI	SCN1A	AP4S1	COL5A1	SCN2A	COPB1	CHD7	ATP1A3	IQSEC2	SYT2	FIBP	TCF4	TGFB2	ALMS1	CACNA1A	RAI1	ABL1	KCNN3	NDRG1	BPTF	DUSP6	PDE4D	ZNF711	FLRT3	ATRX	TONSL	IFITM5	AP4E1	SARS1	RAB7A	GABRD	FGF8	METTL27	SOX10	CREBBP	MYH11	RPS6KA3	FANCB	TMCO1	USP9X	FKBP14	FANCI	FLNA	ATP7A	ALG14	TPM2	PLOD1	SPEN	FGD1	CHD8	CADM3	GDF5	DCC	VPS13B	ATP6V1B2	RFC2	DHX30	PROKR2	PRKG1	DLG3	PRR12	COL1A1	FKBP6	GDF6	CLDN11	NSD1	MYH7	FGFR1	SLC26A2	ATR	XYLT2	CSGALNACT1	CCDC141	FRMPD4	HCN1	BUD23	RAB39B	NONO	ZNF469	PMM2	RAD51C	CDK10	DPAGT1	FANCE	DNAJC30	TLK2	HDAC8	FLI1	SELENON	KCNH1	SIL1	FLII	HNRNPH2	PMPCA	AGTR2	VPS37D	SMAD4	SLC16A2	DEAF1	CRLF1	IARS2	UCHL1	LMX1B	SMAD2	SMARCA2	TFE3	SLC1A3	SALL1	MYLK	EP300	ASXL3	RLIM	PROK2	UBE2A	AP4M1	MAPRE2	USP27X	NDUFAF6	PRDM5	HEY2	BRCA2	XRCC2	HNRNPK	SOX5	ZNF81	PAK3	MECP2	PYCR1	WASF1	RIN2	BRCA1	DPM3	BSCL2	AMMECR1	FBN1	WDR11	CANT1	TTN	MLXIPL	GDF11	ALDH18A1	MTOR	SNRPN	PIEZO2	VLDLR	FLNB	ZNF41	XYLT1	PCDH19	GDI1	TACR3	C12orf57	LIMK1	FTSJ1	LAS1L	MYPN	FMR1	PUF60	TRMT1	DLG4	ZNF148	FEZF1	CEP152	SLC9A7	KAT6A	CUL4B	GORAB	SALL4	CNKSR2	BRWD3	MFAP5	MAB21L2	TBL1XR1	PALB2	SETD2	PEX6	SEMA3A	DMD	ATP6V1E1	TET3	B3GALT6	FANCG	ACSL4	NPR3	SLC39A13	SYP	GAN	CUL7	HERC1	IL17RD	ZDHHC9	TSPAN7	DACT1	SLC37A4	ANOS1	MAPK1	STAG2	COL12A1	MED12	TBL2	PIGG	EXT2	AP1G1	FANCM	APC2	AFF3	IL1RAPL1	LOX	ATP6AP2	CCNK	TMEM270	BRIP1	FGF17	DYM	ATP6V0A2	HESX1	B3GAT3	SLX4	CNOT3	CTSC	MID2	ACTA2	STX1A	RAB33B	GMPPB	AHCY	BAZ1B	KDELR2	ARX	ALG13	STEEP1	GATA4	TRPV4	SCN1B	BCR	GTF2IRD2	SEC23A	ATP1A2	UBE2T	DPH1	TAOK1	TRPS1	SCO2	FBLN5	MED12L	LMNA	UPF3B	SH3TC2	FOXE3	IPO8	COL2A1	FOXG1	STX1B	PTCHD1	RFWD3	GRIN2D	GRIA3	SPRY4	EIF5A	PRKG2	CLIP2	GTF2IRD1	METTL23	BGN	HCFC1	CWC27
HP_HAMMERTOE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAMMERTOE	VCP	SLC35A3	COA7	HARS1	LMNA	PRX	CHCHD10	PLEKHG5	GARS1	DCAF8	NEFL	INF2	PMP22	MPZ	AARS1	BCOR	MFN2	KIF1B	SYT2	SH3TC2	TOR1A	BMPER	GDAP1	NDRG1	BSCL2	MORC2	MYH8	HSD17B4	TRPV4	SACS	SIGMAR1	RAB7A	PEX7	PDXK	CHP1	LRSAM1	DHCR7	MPV17	GNB4	KAT6A	PHYH	AEBP1	REEP1	SBF2	SPART	EGR2	FBN1
HP_BROAD_FOOT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_FOOT	GPC4	GPC3	FGD1	XYLT1	BMPR1B	RPL10	EED	GDF6	PDE4D	TONSL	NSD1	CCDC28B	SLC26A2	NLRP3	B3GLCT	ARL6	AIP	EZH2	SUZ12	FGFR1	LMBR1	PTH1R	PHF6	DYM	AIFM1	TBL1XR1	MSL3	MASP1	BBS1	GPR101
HP_TOE_SYNDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TOE_SYNDACTYLY	FGF9	SMAD4	HDAC8	RAI1	RALA	RAD21	CLCN4	RAD51	TWIST2	MCTP2	FIG4	SMOC1	FANCC	BCOR	EBP	APC	CTCF	ZNF41	FBXW11	KCTD1	ROR2	GDI1	FTSJ1	NECTIN1	IFT140	HDAC4	CNOT2	PSMD12	TRIO	GNE	FANCF	CEP120	TBX22	ZMIZ1	ERCC4	FANCD2	MAN1B1	RBPJ	ITGB4	IRF6	TTI2	ARHGAP31	TP63	SALL4	MYCN	BMS1	RPL10	ARCN1	HOXD13	CERT1	BMPR1B	SLC9A7	FGFR3	BBS7	CRKL	FANCL	FGFR2	SLC12A6	CNKSR2	EN1	NSD1	SC5D	ZNF699	SMC3	PHGDH	SLC12A2	TBCK	SMC1A	NEDD4L	TFAP2B	PALB2	GLI3	SETD2	EP300	FREM2	ATP6V1B2	MAD2L2	DMD	PLEC	SHANK3	ARHGEF6	FANCA	FANCG	FGF10	MECP2	IQSEC2	ACSL4	DDX6	BMP2	LMBR1	IFT43	CDC45	SYP	NIPBL	CD96	TXNL4A	GJA1	SMO	FLNA	SOX5	MED25	ZNF711	TELO2	NSUN2	TSPAN7	RAB23	DACT1	MEIS2	MAPK1	NXN	MED12	PORCN	DHCR7	FGFR1	FANCB	AP1G1	USP9X	ARL6IP6	FANCI	WNT7A	GPC3	FANCM	APC2	CCNQ	ADNP	IL1RAPL1	DYNC2I1	IFT172	TTC21B	DYRK1A	STAG1	PIK3CA	SHH	RIPK4	BRIP1	NECTIN4	SYT1	FRAS1	LIG4	DLG3	MEGF8	SIK3	SLX4	MYH8	MIR17HG	CREBBP	SMARCAD1	BRD4	MID2	BMP4	PIGY	KCNJ2	DYNC2H1	TWIST1	CSGALNACT1	EFNB1	PUF60	MEF2C	DLL4	NOG	RBBP8	FRMPD4	ARX	ALG13	NEK9	RAB39B	RAD51C	CUL4B	FANCE	STEEP1	SIN3A	KIF7	MRPS28	GDF5	FLI1	BCR	DYNC2LI1	CLCF1	FLII	RHOA	AGTR2	TCTN3	UBE2T	DEAF1	KCNJ5	FDFT1	SLC39A8	SALL1	HEPHL1	TBX15	CKAP2L	UPF3B	DYNC2I2	RPS6KA3	TBR1	IL11RA	GPC4	POLR3A	SHMT2	B3GLCT	SETD5	SF3B4	SATB1	PTCHD1	IFT80	RFWD3	BHLHA9	UBE2A	USP27X	PDE6D	BRCA2	XRCC2	WDR19	CPLANE1	GRIP1	DDX11	ZNF81	OTUD6B	PAK3	FBLN1	BRCA1	CEP55	SVBP	LRP4	WNT10B	HCFC1	POLR3GL
HP_ACHILLES_TENDON_CONTRACTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACHILLES_TENDON_CONTRACTURE	BICD2	SGCA	COL12A1	EMD	LMX1B	SLC25A4	CRPPA	ALS2	ADAT3	PYROXD1	JAG2	TMEM43	MT-TE	POMT1	PLEC	COL6A1	LMNA	SGCG	NSUN2	OPA1	ACTA1	MYOT	FKRP	GJB1	SYNE2	FHL1	KY	FKTN	COL6A2	NGLY1	LARGE1	HRAS	COL6A3	PTRH2	HINT1	TTN	ABHD12	ZC4H2	SYNE1
HP_TALIPES_EQUINOVALGUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TALIPES_EQUINOVALGUS	CLTCL1	PTRH2	LMX1B	ESCO2	OTUD5	GDF5	B4GALT7	B3GAT3	FLNB	TNNT3	CHST3
HP_SHORT_FOOT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_FOOT	FAM50A	WDR81	HDAC8	TBCE	KDM4B	CCDC28B	CDKL5	DLK1	NDN	SNRPN	GPC3	FBN1	CHSY1	CTSK	MAPK8IP3	FBXO11	GABBR2	IFT140	HDAC4	LAS1L	CEP120	SATB2	GPC4	BGN	FGD1	PRKCZ	CENPE	BMPR1B	UBE4B	COL2A1	CERT1	SHOX	TRPS1	CUL4B	HUWE1	SLC26A2	CCBE1	BBS1	SMC3	BPNT2	SMC1A	KIF5C	FGFR3	MEG3	KCNAB2	INPPL1	ARL6	NTNG1	SLC35C1	COG1	MECP2	PPM1D	WNT7A	IHH	TUBB3	MKRN3	MMP23B	DYNC2I1	HDAC6	PDPN	MAGEL2	OCA2	RTL1	FGFR2	TONSL	TELO2	PRDM16	NSUN2	PIGN	NPAP1	GALNT2	NOG	GDF5	TRIP11	PWAR1	DYRK1A	TBL1XR1	MASP1	COL3A1	BMP2	HSPG2	CAMK2G	SPEN	RAD21	RERE	HTT	TTC21B	FBXL4	NIPBL	TRRAP	CCDC47	USP9X	USP7	LMBR1	RECQL4	PTH1R	IFT172	DYNC2I2	LIG4	KDM5C	SIM1	BRD4	PIGL	KCNJ2	DYNC2H1	FMR1	RNF2	IFT80	CASZ1	MAP3K7	WDR19	UBE2A	MSL3	LTBP3	NGLY1	SHROOM4	DYNC2LI1	COL11A1	POC1A	HERC2	FGFR1	KCNJ5	LUZP1	IGF1R	PWRN1	MBD5	SNORD115-1	GJA1	ZMYM2	B3GLCT	SATB1	SON	GABRD	SKI	SNORD116-1	ADAMTSL2	SPART	WDR35
HP_BILATERAL_TALIPES_EQUINOVARUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_TALIPES_EQUINOVARUS	RSPO2	MAN2B1	PIEZO2	CHD7	EBP	CLCN3	MAPK1	B3GALT6	PSAT1	SH3PXD2B	SLC26A2	UBE2A	SYT1	GDF5	DHCR24	SNRPN	GDAP1	PITX1	SATB2	SEMA3E	CTU2
HP_ABNORMALITY_OF_TOE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_TOE	LMNA	OFD1	NTNG2	LZTFL1	TBCK	CCDC28B	CLCN4	CHCHD10	GPC3	CKAP2L	INF2	CDC42	HRAS	PMP22	SUMF1	LMBR1	FANCC	BCOR	HSPG2	CHSY1	CEP41	RAB11B	TRIP12	TMEM67	NECTIN1	MED27	EIF4H	IFT140	HDAC4	FAM149B1	ZMPSTE24	FANCF	ERCC4	MORC2	TCF12	FANCD2	LIFR	ODC1	BMPR1B	KRAS	MYLPF	IRF6	B9D1	WDR19	TWIST1	CHRNG	SALL4	RSPRY1	FGF10	BMS1	PEX7	GARS1	MYCN	RPL10	EVC2	HOXD13	CHP1	LRSAM1	COL1A2	EMC10	CRKL	FGFR2	CILK1	SLC6A9	SC5D	DDX59	SMC3	TBX4	CHST3	PTPN23	BHLHA9	GMNN	NAA10	B4GALT7	ERLIN2	GLI3	AEBP1	WIPI2	CPLX1	FREM2	NEFL	MAD2L2	PHF8	SHANK3	FANCA	WNT7A	SYT2	DSP	DYNC2LI1	FBXW11	WDFY3	DDX6	ALMS1	RAB3GAP1	FAM20C	SMOC1	NDRG1	TCF20	NIPBL	CD96	FLNA	KCNA1	SOX5	TMEM94	PDE4D	PIK3CA	ZNF711	TELO2	SMS	IFT43	MEIS2	RAB7A	BCORL1	RLIM	PDXK	HSPB1	METTL27	NPR2	SLCO2A1	KCNN3	GALNT2	DHCR7	CREBBP	ALOXE3	TMCO1	USP9X	DYRK1A	MYT1L	FIG4	REEP1	VCP	SLC35A3	CENPJ	COL12A1	RTL1	RAD21	PLAA	PRX	HPGD	COL2A1	ELN	WNK1	TBX1	KCNH1	RNF6	SYT1	INPP5E	FRAS1	COG8	KMT2E	HOXA13	MEGF8	SIK3	MGP	FKBP6	CEP104	BRD4	GDF6	PIGL	HPDL	SLC26A2	DYNC2H1	DOCK6	DCPS	NT5C2	OTUD5	CSGALNACT1	RETREG1	RAI1	BUD23	ZNF469	FANCE	DNAJC30	GRIP1	CIBAR1	TCF7L2	RNU4ATAC	PNKP	PUS7	GATA6	GDF5	FLI1	SIAH1	TWIST2	GNE	SYNCRIP	SCN1B	VPS37D	SLC16A2	DEAF1	EP300	MPZ	FDFT1	AGO2	CCNQ	IGF1R	TMEM107	NOG	PHF6	MKS1	TP63	CSPP1	EIF2AK3	SALL1	IL11RA	DLL4	SLC29A3	TMEM138	TMEM260	GJA5	SPTBN1	SETD5	COL6A1	USP27X	PRDM5	PDE6D	XRCC2	LIG4	THOC6	KAT8	ACVR1	SETD1A	ZNF81	ACTB	MECP2	ATP6V1B2	COX4I1	FBLN1	BRCA1	PORCN	SVBP	LRP4	PYCR2	KCNJ2	POLR3GL	TCTN2	CANT1	PIGG	HDAC8	RALA	SNRPN	PIEZO2	KDM4B	ASAH1	HERC2	EBP	CTCF	CTBP1	C12orf57	CEP152	PSMD12	PRKAR1A	CEP120	TBX22	ZMIZ1	GCH1	GNAS	MAN1B1	ALG12	PRKCZ	CPLANE1	CDKL5	TMEM237	SOD1	SHOX	CERT1	NKX2-5	ABCC9	GJA1	PPP2R1A	TNRC6B	CUL4B	FGFR3	UFD1	CC2D2A	PTRH2	EN1	GHR	CENPE	EGR2	BPNT2	GPX4	RPGRIP1L	TFAP2B	HIRA	CEP290	PALB2	KCNAB2	PPP1R15B	FHL1	ARL6	PIGQ	DMD	HYLS1	COL6A3	NUP107	MFN2	FANCG	FBN1	IHH	ACSL4	ACTL6A	BMP2	ARX	PITX1	SMO	SETBP1	PDPN	NOTCH1	NSUN2	TSPAN7	RAB23	COL3A1	MAPK1	ADA	DLEC1	MED12	SEC24C	ITCH	EXT2	TLL1	LTBP4	TMEM231	HS2ST1	ANKRD17	MYH3	B9D2	APC2	WWOX	TBC1D2B	ALG3	SRCAP	IL1RAPL1	TMEM216	ESCO2	SATB1	DCLRE1C	NUP85	SPEN	ZNF423	GATAD2B	PTH1R	TRPV4	KATNIP	SLX4	SMARCAD1	SATB2	PIGY	KIAA1109	HBA2	CHD7	KIF7	BAZ1B	TCTN3	NOTCH2	ERMARD	PLK4	LBR	UBE2A	TXNDC15	MTM1	PRKG2	SIN3A	ROR2	ATL3	CLCF1	PCGF2	WDPCP	FREM1	KCNJ8	DCAF8	FGFR1	UBE2T	SCN9A	SUFU	DLK1	AARS1	HEPHL1	KIF1B	ARL3	MBD5	UPF3B	ATN1	INTS1	WASF1	RPS6KA3	PTEN	JUP	SLC35C1	GPC4	ZMYM2	TRAIP	SF3B4	PTCHD1	NSD1	RFWD3	TGFBR2	B3GLCT	NEK1	RREB1	IQSEC2	DDX11	CLIP2	ACAN	EXTL3	MPV17	GTF2IRD1	RMRP	OTUD6B	CEP55	WNT10B	HCFC1	SPART	CWC27	SMAD4	COA7	TGFB3	IL7R	COMT	HARS1	PRKACB	TRMT1	EOGT	RAD51	RAG2	GBA	DPM1	GTF2I	SCN2A	EZH2	NCF1	ARSL	DOCK3	FBXO11	YY1	TOR1A	NELFA	TRIO	AMER1	AHI1	SACS	RAG1	MMP2	LETM1	COL11A2	FIBP	ARHGAP31	ACTL6B	COL6A2	BBS7	FANCL	DPYSL5	ERF	GNAO1	SBF2	PHGDH	SLC12A2	SMC1A	NEDD4L	EED	EFNB1	ABCA12	MAPK8IP3	KCNMA1	MTX2	PLEC	ZEB2	ARHGEF6	BCL7B	KIF1A	MYOD1	BPTF	TOPORS	MED25	PIGV	PRDM16	SMARCE1	ARID1B	PIGN	NXN	KIAA0586	IFT52	NSD2	GNB4	FANCB	CCDC32	TBL1XR1	AKT1	ARL6IP6	FANCI	SVIL	HSPB8	HBA1	KIAA0753	PIGF	KIAA0825	RERE	DYNC2I1	IFT172	SMARCA2	ASXL1	RAB3GAP2	RFC2	COX7B	UBR7	SMARCD2	DLG3	MYH8	IRX5	GRIA4	BMP4	ATR	MEF2C	VPS13B	RBBP8	FRMPD4	SIK1	NEK9	RAB39B	NONO	NBAS	RAD51C	TCTN1	NOD2	GRM7	MRPS28	EVC	DMXL2	BMPR1A	DNMT3A	FLII	PAPPA2	MEG3	CASK	AGTR2	DVL1	MKKS	RNF2	BSCL2	ARL13B	NTNG1	SIGMAR1	PIGO	CNOT3	ERCC1	BRCA2	KMT2A	GP1BB	WNT5A	GDAP1	PAK3	PHYH	FGF9	MLXIPL	SRY	SOX9	NEUROD2	MCTP2	TBC1D24	APC	ZNF41	EIF4A3	KCTD1	MED13	C2CD3	GDI1	SPECC1L	LIMK1	FTSJ1	CNOT2	CLCN3	PSMB8	NKX2-6	INTS8	VAC14	PUF60	ALOX12B	HSD17B4	XYLT1	BBS2	PIBF1	RBPJ	ITGB4	TTI2	NRAS	UBE4B	ARCN1	ARVCF	SUZ12	SLC9A7	GLI1	USP7	KAT6A	HUWE1	SLC12A6	CNKSR2	TAF6	BBS1	ZNF699	TANC2	TBX3	BCAS3	SETD2	MADD	PALS1	B3GALT6	NPR3	MMP23B	POLR3A	CDC45	SYP	MIA3	NSDHL	TXNL4A	XYLT2	ZNF407	BBS9	DACT1	RPGRIP1	RHBDF2	TBL2	LARS1	IFT57	AP1G1	NPHP3	GJA8	FANCM	TRIM8	ADNP	FGFRL1	FLNB	TTC21B	STAG1	SHH	TPM2	RIPK4	CCDC47	IL2RG	TMEM270	BRIP1	PTHLH	NECTIN4	PPP2R5D	HNRNPK	HTT	ATRIP	ZSWIM6	CBY1	B3GAT3	CPT2	MIR17HG	MID2	STX1A	IFT74	SCARF2	CCDC22	CASZ1	CHST11	ADAMTS2	ALG13	LMBRD2	STEEP1	GATA4	PCNT	TNNT3	JMJD1C	IFT122	BCR	GTF2IRD2	PIGH	RHOA	ARMC9	PLEKHG5	KCNJ5	SLC39A8	LUZP1	TRMT10A	TBX15	DYNC2I2	SH3TC2	TBR1	BMPER	IPO8	SHMT2	IFT80	GABRD	SKI	DLX5	PPP1R21	EIF5A	PIGP	TRAPPC4	SLC25A22	JARID2
HP_BROAD_METATARSAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_METATARSAL	CANT1	TTC26	ABCC9	NPR2	MMP2	FGFR1	PTH1R	RAB33B	PDE4D	FGFR2	FBN1	ADAMTS10	NEK1
HP_ANKLE_SWELLING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANKLE_SWELLING	IL2RA	FLT4	STAT4	GJC2	PTPN22	MAFB	IL2RB	CD247	ANKRD55	PTPN2
HP_NARROW_FOOT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_FOOT	TCF4	ADK	PQBP1	FBN1	SCARF2
HP_ABNORMAL_DELIVERY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DELIVERY	ERGIC1	MYH3	RTL1	COL5A1	LMOD3	ENG	MPL	NEB	BIN1	DNM2	PLOD1	FGA	ITGA2B	KLHL41	F2	GPHN	ABCC6	HSPG2	RYR1	ATP6V0A2	OPA1	MYPN	SERPINE1	FGG	ZMPSTE24	MED12	F5	F13B	KBTBD13	MGP	COL1A1	SLC26A2	HBB	CLN8	GP1BA	THPO	MYF6	SYCP3	MEG3	SERPINC1	ACTA1	WRN	LMNA	ALB	ADAMTS2	MTMR14	DEF6	SHPK	CYP11A1	COL5A2	CRTAP	ENPP1	TPM2	ZNF699	F8	JAK2	ORC1	PTPN23	HTR1A	RHAG	CYP11B2	REC114	COL1A2	CYP11B1	RHD	RHCE	CACNA1D	FCGR3B	TAOK1	SERPINH1	C11orf80	GP1BB	PEX1	F12	LDHA	SPTBN1	ITGB3	ASXL3	POLR3A	HOXA13	KLHL40	KDM3B	SATB1	DLK1	ITGA2	SON	PTCD3	TAF1	LEMD2	CD109	MKS1	F13A1	FGB	DHCR7	MCM4	TPM3	ANXA5	XIST
HP_PREMATURE_RUPTURE_OF_MEMBRANES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_RUPTURE_OF_MEMBRANES	COL5A1	LMNA	COL1A1	SERPINH1	ADAMTS2	DEF6	PLOD1	ATP6V0A2	COL5A2	ZMPSTE24	MED12	LEMD2
HP_HYDROPS_FETALIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYDROPS_FETALIS	TRIP11	FASLG	PKLR	RPL15	HADHB	CTSA	GATA1	BSND	GATB	ALG8	PRKCD	HBA1	ASAH1	FIG4	NR1H4	GBE1	ABCC6	HSPG2	KIF20A	FAT4	FOXF1	RASGRP1	NEK9	NSF	PIEZO1	GLB1	DYNC2I2	GYPC	HADHA	RPL18	COL2A1	RPS17	RPS7	TALDO1	QRSL1	ADAMTS3	VAC14	SLC26A2	CARS2	ALG1	RPS28	GATC	AHCY	RPL35	NDUFB10	PTH1R	CASP10	RPL11	RPL5	NEU1	RASA1	LBR	MECOM	RPL26	SPTA1	MCM10	RPS27	ENPP1	GRIP1	PLD1	COL11A1	SOX18	FAS	RPS24	UROD	EPHB4	WDR35	GUSB	RPS20	TAPT1	HBA2	RYR1	ADA2	CCBE1	RPS19	GBA	COL1A1	RPL27	KIAA0586	COL1A2	RPL35A	MMACHC	RPS10	PMM2	ALPK3	DYNC2I1	SPTB	RPS26	FLT4	RPL31	FLNB	SLC17A5	UROS	KLF1	PIGA	MGAT2	RPS15A	RPS29	IFT80	NEK1	TSR2	DYNC2H1	CALCRL	ALG9	CDAN1	WNT7A	AGGF1	TRIM37	EPB41
HP_NONIMMUNE_HYDROPS_FETALIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NONIMMUNE_HYDROPS_FETALIS	SOX18	RPL15	CTSA	RPS24	UROD	EPHB4	GATA1	GATB	PKLR	RPS20	ADA2	NR1H4	RPS19	GBA	COL1A1	RPL27	FOXF1	COL1A2	PIEZO1	RPL35A	RPS10	RPL18	RPS17	RPS7	PMM2	QRSL1	RPS26	FLT4	RPL31	CARS2	ALG1	UROS	RPS28	GATC	RPS15A	RPL35	RPS29	NDUFB10	TSR2	RPL11	CALCRL	RPL5	RASA1	LBR	RPL26	MCM10	RPS27
HP_FETAL_ASCITES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FETAL_ASCITES	NPC1	EIF5A	HSD17B4	GNB2	NPC2
HP_SMALL_NAIL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_NAIL	RERE	EOGT	MLXIPL	MSX1	EED	ARID2	RIPK4	CKAP2L	MCTP2	EVC	GTF2I	EZH2	NCF1	LIMK1	KDM1A	DOCK6	EIF4H	IGF2	COL11A2	PIGW	TFAP2A	ALOX12B	ALG12	TBC1D24	ODC1	POP1	TBX3	ARHGAP31	KCNH1	SMARCA4	EVC2	PIGL	COL7A1	SUZ12	GLI1	FGFR2	NHP2	HUWE1	ERCC2	NSD1	CDKN1C	PLAG1	SLC25A24	NOP10	TP63	SOX4	SMARCB1	GJB6	CENPT	SETD2	SMARCC2	ATP6V1B2	SHANK3	WDR73	PIGV	BCL7B	ARID1A	WASHC5	PPM1D	DYNC2LI1	DHX37	SHOC2	KCNN3	POLR3A	KIF15	NEPRO	SHOX	SOX11	NOTCH1	SMARCE1	TELO2	NSUN2	ARID1B	RAF1	PIGN	METTL27	TBL2	TSPAN7	RSPO1	STAMBP	ALOXE3	COL11A1	FTO	RTL1	GPC3	APC2	SPEN	ALG3	PIGF	WNT10A	SLC35D1	PLEC	TRRAP	ELN	DLL4	DPH1	TMEM270	NECTIN4	RFC2	IHH	PPP2R5D	DPF2	INPPL1	SMARCAD1	LIG4	OFD1	PGAP3	CPT2	PRR12	BICRA	FKBP6	PIGB	CDH1	MPLKIP	STX1A	DNAJC21	HMGA2	SMARCD1	PGAP2	BAZ1B	OTUD5	MEG3	CDIN1	PLAGL1	TCTN3	GDF5	BUD23	LBR	DNAJC30	MBTPS2	ACTL6B	TBX4	ROR2	SIAH1	GTF2IRD2	CCDC22	PIGO	VPS37D	POC1A	HRAS	HEPHL1	PPP1CB	FGFR1	PTDSS1	IKBKG	BMPER	ZNF462	GPC4	HOXA13	ZMYM2	HYMAI	TMEM222	PIGA	RLIM	DLK1	PIGY	BHLHA9	EIF5A	CLIP2	RBPJ	AFF4	GTF2IRD1	RPS6KA3	CWC27	ADAMTSL2
HP_HYPERCONVEX_NAIL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERCONVEX_NAIL	ORC1	ARX	PTDSS1	CTBP1	NSD2	SETBP1	CPLX1	FGFRL1	PLEC	RPS6KA3	PIGV	TP63	POMP	ECE1	MBTPS2	HPGD	RNU4ATAC	LETM1
HP_ANONYCHIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANONYCHIA	PNKP	COL7A1	SLC25A24	EOGT	DMXL2	BCR	KCNH1	DSP	TRIM8	PIGF	ARHGAP31	NEUROD2	CASK	SCN1B	RIPK4	GJB6	ITGB4	PIGQ	ATP6V1B2	WNT10A	LAMC2	FIG4	LMX1B	SCN2A	ARID1A	TBC1D24	APC	ATP2A2	NOG	WNT7A	LAMA3	LAMB3	PLEC	COL17A1	ITGA6	JUP	KCNN3	DLL4	ARX	KCNA1	NOTCH1	TP63	CDKL5	DOCK6	MMP1	ARID1B	MAPK1	PORCN	GRHL2	PIGP	KRT14	SIK1	ACTG2	RBPJ	SLC25A22	CRKL	LBR	ZBTB20	RSPO4	GPC4	LRP4	GRM7	GNAO1	ROR2
HP_SHORT_NAIL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_NAIL	GPC4	IFT122	LMNA	B3GALT6	NPR2	NOTCH2	FLNB	ZMPSTE24	IFT43	GPC3	DPYD	ATP6V0A2
HP_HYPOPLASTIC_TOENAILS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_TOENAILS	MLXIPL	GTF2IRD2	COL11A1	PIGF	SOX4	EED	SLC35D1	SMARCB1	EOGT	ARID2	VPS37D	SMARCC2	DPH1	ELN	SHANK3	DLL4	SOX11	RIPK4	BCL7B	EVC	TMEM270	GTF2I	HRAS	PPP1CB	EZH2	NCF1	ATP6V1B2	FGFR1	NECTIN4	MSX1	RFC2	ARID1A	PPP2R5D	LIMK1	KDM1A	DYNC2LI1	DPF2	EIF4H	INPPL1	SHOC2	LIG4	HOXA13	CPT2	ZMYM2	FKBP6	TBC1D24	ODC1	STX1A	TBX3	SMARCE1	TELO2	NSD1	NSUN2	ARID1B	SMARCD1	BAZ1B	SMARCA4	EVC2	EIF5A	METTL27	SUZ12	GLI1	TCTN3	TBL2	CLIP2	BUD23	AFF4	GTF2IRD1	DNAJC30	TBX4
HP_ABSENT_TOENAIL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_TOENAIL	COL7A1	PORCN	ARID1A	APC	BCR	ATP6V1B2	KRT14	KCNN3	KCNH1	PIGF	CRKL	DSP	LBR	JUP	GPC4	LRP4	MAPK1	WNT7A
HP_NAIL_PITS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NAIL_PITS	IKBKG	FOXN1	TP63	TERC	MSX1	TERT	LPAR6	HLA-C	TINF2
HP_HYPOPLASTIC_FINGERNAIL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_FINGERNAIL	EOGT	KCNH1	COL11A1	CCDC22	PIGF	SOX4	PLEC	SMARCB1	ARHGAP31	ARID2	CENPT	SMARCC2	WASHC5	MSX1	PTDSS1	IKBKG	ARID1A	DPF2	IGF2	COL11A2	KCNN3	BMPER	TFAP2A	DLL4	ZNF462	SHOX	SOX11	HYMAI	TBC1D24	PIGO	NOTCH1	SMARCE1	HMGA2	ARID1B	SMARCD1	DOCK6	SMARCA4	PIGN	PLAGL1	FGFR2	RBPJ	RPS6KA3	ATP6V1B2	LBR	MBTPS2	CDKN1C	ROR2	PLAG1
HP_ONYCHOGRYPOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ONYCHOGRYPOSIS	IKBKG	ZSWIM6	COL7A1	INSR	CTSC	TP63	FZD2	GJB2	KRT6A	DVL3	WNT5A	KRT16	LORICRIN	ADAM17	KRT17	EGFR	KLHL24	KRT14	FZD6	KRT5	GJB6	DVL1	HPGD	PLEC	KRT6B
HP_ONYCHOLYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ONYCHOLYSIS	COL7A1	KRT74	HFE	JUP	KRT5	WNT10A	KRT14	DSG1	LAMA3	FZD6	CDSN	HLA-C	CAST	KRT85	IFIH1	ITGA3	UROD	GJB6
HP_RIDGED_NAIL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIDGED_NAIL	IKBKG	FOXN1	MPLKIP	ATP2A2	TERC	MSX1	GJA1	GTF2H5	SLC39A4	WNT10A	TARS1	DKC1	ATR	CTSK	TINF2	EFNB1	FERMT1	RNF113A	GTF2E2	LMX1B	KRT14	ERCC2	TERT	LPAR6	ERCC3
HP_FRAGILE_NAILS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRAGILE_NAILS	DLX3	COL7A1	SLURP1	MPLKIP	COL17A1	GJA1	ITGB4	GTF2H5	KRT14	LAMC2	CAMK2G	TARS1	SIN3A	DSP	PRKD1	SIN3B	AP1B1	EFNB1	RNF113A	GTF2E2	HEPHL1	MSX1	ERCC2	LMNA	LAMA3	HRAS	FTL	LAMB3	TRPS1	SMARCD2	ERCC3	ATP6V0A2
HP_SPLIT_NAIL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPLIT_NAIL	DKC1	MPLKIP	GTF2E2	ERCC2	GTF2H5	ERCC3	EFNB1	TARS1	RNF113A
HP_DYSTROPHIC_TOENAIL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSTROPHIC_TOENAIL	COL7A1	KRT74	COL17A1	PERP	WNK1	KRT14	KIF1A	ZMPSTE24	SMARCE1	SCN9A	RAB7A	RETREG1	WNT10A	KLHL24	NECTIN1	KRT5	NOTCH1	IKBKG	LMNA	RUNX2	ITGB4
HP_HYPERCONVEX_FINGERNAILS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERCONVEX_FINGERNAILS	RPS6KA3	MBTPS2	PTDSS1	CTBP1	NSD2	CPLX1	FGFRL1	PLEC	LETM1
HP_DEEP_SET_NAILS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEEP_SET_NAILS	NSD1	EZH2	HRAS	SUZ12	EED
HP_THIN_NAIL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIN_NAIL	IFT122	EZH2	ALOX12B	TRPS1	SUZ12	MSX1	WNT10A	EED	FZD6	HRAS	ALOXE3	NSD1	MBTPS2	ANAPC1
HP_ABSENT_FINGERNAIL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_FINGERNAIL	PNKP	EOGT	DMXL2	BCR	KCNH1	DSP	TRIM8	KCNA1	NOTCH1	ARHGAP31	NEUROD2	CASK	CDKL5	SCN1B	DOCK6	MAPK1	PIGQ	FIG4	PORCN	COL7A1	SCN2A	ARID1A	TBC1D24	APC	PIGP	ATP6V1B2	SIK1	NOG	RBPJ	SLC25A22	CRKL	JUP	KCNN3	LRP4	GRM7	GNAO1	DLL4	ARX
HP_PARONYCHIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARONYCHIA	KRT17	SLC39A4	STAT3	BLM	KIF1A	SCN9A	ADAM17	LAMA3	RETREG1	LAMB3	KRT16	KRT6A	WNK1	LAMC2	KRT6B
HP_LEUKONYCHIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEUKONYCHIA	PEX1	TRPS1	ATP2A2	DSC3	DSP	CAST	GJB2	KANK2	ABCA12	PEX6	GJA1	PLCD1	KIF11
HP_BROAD_NAIL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_NAIL	TRAF3IP2	IFT43	IL17RA	FHL1	IHH	HPGD	IKBKG	CLEC7A	IL17RC	IL17F
HP_HALLUX_VALGUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HALLUX_VALGUS	GDF5	ATL3	NONO	CDKL5	MLXIPL	GTF2IRD2	KCNH1	SRY	B3GALT6	TP63	AEBP1	VPS37D	SLC16A2	GBA	FHL1	COL1A2	DYRK1A	ELN	ZEB2	BCL7B	TMEM270	GTF2I	NUP107	NCF1	RFC2	LIMK1	MYH3	YY1	EIF4H	FGFR2	PTEN	IL11RA	KCNN3	BMP2	PSMB8	SLC29A3	B3GAT3	ZMIZ1	TCF12	HOXD13	FKBP6	STX1A	SF3B4	SCARF2	TWIST1	FGFR3	BAZ1B	PRDM5	RBBP8	METTL27	CHST11	BMPR1B	USP7	TBL2	CLIP2	ACVR1	ITCH	USP9X	BUD23	ERMARD	GTF2IRD1	ATP6V1B2	ZNF469	DNAJC30	AKT1	ERF	CHST3	CWC27
HP_WEIGHT_LOSS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WEIGHT_LOSS	IFNGR1	TP53	IL12A-AS1	CACNA1S	UNC80	IL12A	ALS2	EPCAM	PRNP	CDKN2B	GIPC1	RAD51	PDX1	LPIN2	GBA	TXNRD2	SDHC	INS	ERCC3	FANCC	CTLA4	AK2	HSPG2	SLC25A11	KRT10	TCF4	CDKN1A	UNC45A	TGFB1	ACAT1	FANCF	ERCC4	HLA-B	FANCD2	ATM	GCK	PTPN22	ERAP1	ATRX	ZMPSTE24	HTT	DNMT3A	KCNJ18	DLST	ERCC5	PTEN	NABP1	DIS3L2	FANCL	LMNA	MLX	STAT4	KDSR	RNU7-1	ITGA7	KIF1B	TRIM28	EWSR1	NALCN	WT1	CALR	RPS20	MAD2L2	EHHADH	SUCLA2	FANCA	NRTN	GALC	NFKBIL1	NDP	TSHR	HLA-DPA1	CHEK2	FUS	SNCA	BIRC3	CTRC	GDNF	MAP3K20	FLI1	SCNN1B	SPINK1	ACTA1	CIITA	HMGCL	JAK2	FANCB	AKT1	FANCI	GATA2	VHL	GATM	SCNN1G	BCL6	CENPJ	MPL	ACADM	SPTLC1	BCOR	SIGMAR1	BCL2	REST	H19	LIPA	MLH3	PANK2	SLC34A1	TLR4	SDHAF2	COL4A6	TGFBR2	RABL3	TET2	MECP2	HLA-DRB1	HAVCR2	KRT1	MSH2	SMO	PTPN2	PML	KRAS	TPM2	CYP24A1	TTR	SCNN1A	SLC39A4	POU6F2	RET	RRM2B	CNTNAP1	TRIP13	RAD51C	IL12B	FANCE	SDHB	FOXP3	STAT6	BMPR1A	SLC2A3	VPS13A	SLC5A1	BRCA2	CCND1	GIGYF2	ERBB3	C4A	SRSF2	PRTN3	HACD1	STUB1	PIK3R1	ANKRD55	EIF4G1	IL2RA	CRLF1	FAN1	HLA-DPB1	NOD2	BTK	NPM1	FIP1L1	SDHAF1	DAXX	IL2RB	IL23R	DCTN1	XRCC2	TMEM127	ABCD1	SDHD	F5	TRPV4	ASXL1	AMN	BRCA1	AVP	GNPTAB	NF1	GABRA3	ATR	IL6	IRF4	STAT3	CFTR	BTNL2	CEP152	SDHA	PSAP	TYMP	STAR	LRP12	HLA-DQB1	LIG3	STAT5B	NOS1	FOXP1	JPH3	MLH1	IL10	TPM3	LRRK2	DNAJC13	HLA-DQA1	UBAC2	CENPE	EDN3	PALB2	MEFV	PRKAR1A	SMAD4	NNT	GJB3	FANCG	SLC6A8	CD247	SEMA4A	NBN	NOTCH2NLC	ECE1	MDH2	PALLD	P4HA2	SLC34A2	CD244	CCR1	MYL2	PMS2	PKHD1	RHBDF2	NAB2	PIK3CA	RBBP8	ZBTB16	SEMA3D	FANCM	POLG	RUNX1	CDC73	BAP1	NUP85	IKZF1	RARA	BRIP1	SEMA4D	RB1	ATRIP	ATP7A	SLX4	PMS1	CDH23	GPC3	CDKN2A	THPO	CDKN1B	COL4A5	CUBN	RNF168	PLK4	EDNRB	MRAP	CUL4B	SLC9A6	GATA4	PCNT	SYK	GJA1	MAFB	ABCC8	SELENON	SPG11	NUMA1	ERBB2	CBL	ATP7B	MSH6	UBE2T	MEN1	SLC22A4	GPR35	GJB4	TRIM37	MST1	MAX	ERCC2	SLC11A1	VPS35	TBL1XR1	FH	HLCS	KLRC4	IRF2BP2	SREBF1	TRAIP	HFE	RFWD3	NDUFAF6	MC2R	SEMA3C	CDKN2C	EPAS1	KCNJ11	FAS	BCL10	KIT	MALT1
HP_POSTAXIAL_FOOT_POLYDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTAXIAL_FOOT_POLYDACTYLY	EVC	B9D2	DYNC2LI1	SC5D	PRKACB	DHCR7	KIAA0825	LZTFL1	RPGRIP1L	PLAA	CEP290	GLI3	DYNC2I1	TTC21B	INPP5E	TMEM216	SMOC1	MKKS	TMEM107	C2CD3	TCTN2	IFT172	IFT140	DYNC2I2	TMEM67	TMEM231	CEP120	MKS1	CD96	BBS2	SETD5	DDX59	CC2D2A	IFT74	B9D1	CSPP1	IFT80	LMBR1	BBS9	TMEM237	RPGRIP1	DYNC2H1	OTUD5	PDE6D	TCTN3	NEK1	EVC2	HOXD13	WDR19	EXTL3	LBR	TXNDC15	BMP4	NPHP3	TCTN1	CIBAR1	KIF7
HP_ABNORMAL_METATARSAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_METATARSAL_MORPHOLOGY	CANT1	RTL1	FGF9	SRY	DCHS1	CPLX1	FGFRL1	LZTFL1	PIK3CD	VPS35L	B3GALNT2	FLNB	GNAS	ADAMTS10	COL2A1	VPS13B	FIG4	LMBR1	SIL1	PTHLH	RAB3GAP2	HSPG2	CTBP1	PIEZO2	DAG1	RIPK4	DYM	FBN2	PRKAR1A	LIG4	RXYLT1	B3GAT3	VAC14	PTPN2	UBE3B	TTC26	MYH8	FKRP	MMP2	ZBTB20	FLNA	PTPN22	RAB33B	RBPJ	FIBP	PRMT7	FGFR2	SLC26A2	PEX5	TWIST1	RSPRY1	MEG3	RAB23	MAFB	HDAC4	DDR2	KNSTRN	TGDS	POMGNT1	PDE4D	BMPR1B	TRPV4	SHOX	PEX7	ABCC9	INPP5K	LARGE1	GDF5	TRPS1	POMK	HINT1	NEK1	PRKG2	TNNT3	TNNI2	CHST3	POMT1	HOXD13	FKTN	PHYH	SMARCA2	LRP5	POC1A	GUSB	CRPPA	LETM1	COG4	SKI	SALL1	HOXA13	B3GALT6	HEPHL1	NPR2	FGFR1	PEX1	PTH1R	TCF4	WNT7A	PIGS	B4GAT1	CD247	ANKRD55	DHCR24	ERCC6	TUBB3	COL4A1	IL2RA	SLC35A2	CHSY1	FBN1	KIF22	PTEN	POMT2	WDR26	POMGNT2	EZH2	ZNF407	MAP3K7	POR	DLK1	NSUN2	STAT4	B3GLCT	IFIH1	IL2RB	PORCN	IHH	TP63	LMNB2	ACVR1	IFT52	DHCR7	MAPK1	NSD2	PEX2	SH3PXD2B	FBLN1	FAT4	AKT1	PRG4	GLI3	KCNJ2
HP_LONG_FOOT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_FOOT	CAVIN1	MEN1	UBE3B	RPS6KA3	HERC1	SETD2	UPF3B	BSCL2	FOS	EED	FIBP	NF1	NSD1	PIGL	INSR	AGPAT2	PACS1	RNU4ATAC	PPARG	FLNA	SUZ12	PDGFRB	POLR3A	ASNS	CAV1	AIP	SIM1
HP_CAMPTODACTYLY_OF_TOE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAMPTODACTYLY_OF_TOE	MMP2	FGFR3	PIEZO2	MYLPF	PHF6	SCARF2	PPP2R5D	DSP	GLI3	FLNA	JUP	CHRNG	FHL1	BCOR	IPO8
HP_BROAD_TOE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_TOE	FGF9	KIAA0753	NTNG2	SRCAP	ADNP	ZMIZ1	FGFR3	TRMT1	TBCK	ROR2	GPC3	SATB1	KDM4B	SUMF1	SLC12A2	PSMD12	KCNH1	MED13	C2CD3	DOCK3	TBX1	MED27	CLCN3	HTT	UBR7	KMT2E	NKX2-6	SATB2	GPC4	CREBBP	FLNA	GRIA4	CCDC22	HPDL	FGF10	EFNB1	PUF60	NOG	HOXD13	ACTL6B	COL2A1	NKX2-5	ABCC9	CHST11	PPP2R1A	BMPR1B	TNRC6B	FGFR2	MYT1L	EMC10	LMBRD2	DPYSL5	TAF6	NEK1	HPGD	PRKG2	GLI3	TCF7L2	TANC2	TNNT3	PUS7	IFT122	PTPN23	GATA6	GDF5	TRIP12	SMC1A	SIAH1	USP9X	SVBP	DDX6	WDPCP	NAA10	SYNCRIP	RHOA	BCAS3	PIGL	TWIST1	MADD	MAPK8IP3	DVL1	KCNMA1	EP300	PALS1	ZEB2	AGO2	MED12	FBXW11	WDFY3	RNF2	WASF1	ACTL6A	BMP2	BPTF	NTNG1	TCF20	ZMYM2	EBP	GJA5	SPTBN1	PIGO	SF3B4	PDE4D	CNOT3	UBE2A	DLX5	HUWE1	MEIS2	BCORL1	RLIM	NPR2	KAT8	SETD1A	ACAN	WNT5A	TRAPPC4	FGFR1	CCDC32	BCOR	JARID2	PYCR2	HS2ST1	ANKRD17	GJA8
HP_SPLIT_FOOT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPLIT_FOOT	PORCN	TP63	DLX5	FGFR2	GLI3	WNT10B
HP_METATARSUS_ADDUCTUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METATARSUS_ADDUCTUS	UBE3B	RTL1	EZH2	MYH8	TRPV4	ZBTB20	CPLX1	FGFRL1	FIBP	DLK1	NSUN2	PEX5	GUSB	MEG3	RAB23	DDR2	LETM1	SKI	B3GALT6	RAB3GAP2	LMNB2	DHCR7	CTBP1	MAPK1	PEX1	NSD2	PIEZO2	PEX2	SH3PXD2B	DHCR24	TUBB3	FBN2	SLC35A2	SLC26A2	FIG4	GLI3	LIG4	FBN1	B3GAT3	TNNT3	TNNI2	CHST3	WDR26	VAC14
HP_PREAXIAL_FOOT_POLYDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREAXIAL_FOOT_POLYDACTYLY	HOXD13	GLI3	CPLANE1	CTBP1	NSD2	CPLX1	FGFRL1	LMBR1	FGFR2	RAB23	IFT172	NEK1	ZSWIM6	PITX1	KIF7	LETM1	MEGF8
HP_FOOT_ACROOSTEOLYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOOT_ACROOSTEOLYSIS	LMNA	KIF1A	NOTCH2	WNK1	ZMPSTE24	SCN9A	RETREG1	COL3A1	MTX2
HP_ABNORMALITY_OF_THE_HALLUX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_HALLUX	CANT1	FGF9	PIGG	MLXIPL	NTNG2	SRY	ZMIZ1	TP63	TRMT1	GBA	DPM1	ABCC9	KDM4B	FIG4	GTF2I	SUMF1	NCF1	CTCF	PSMD12	CHSY1	CTBP1	MED13	ROR2	C2CD3	DOCK3	LIMK1	YY1	TBX1	MED27	EIF4H	FGFR2	CLCN3	NELFA	PSMB8	NKX2-6	GNE	PRKAR1A	SATB2	VAC14	PUF60	TCF12	GCH1	LETM1	FIBP	LMBR1	TWIST1	KCNH1	SALL4	FGF10	NSD2	BMP2	HOXD13	SLC29A3	ACTL6B	NKX2-5	PPP2R1A	BMPR1B	TNRC6B	USP7	COL1A2	CREBBP	KAT6A	EMC10	PTRH2	DPYSL5	TAF6	NEK1	ERF	TANC2	CHST3	PTPN23	BHLHA9	NONO	TRIP12	SMC1A	USP9X	DDX6	NAA10	BCAS3	GLI3	EFNB1	AEBP1	CPLX1	FHL1	MADD	MAPK8IP3	KCNMA1	PALS1	ZEB2	BCL7B	HYLS1	FLNA	NUP107	B3GALT6	NPR2	SMS	IHH	FBXW11	WDFY3	ACTL6A	FAM20C	NPR3	KCNN3	BPTF	PITX1	TCF20	EBP	DYRK1A	PDE4D	FGFR3	RAB23	DACT1	MEIS2	BCORL1	NXN	RLIM	HSPB1	METTL27	TBL2	ITCH	FGFR1	CCDC32	AKT1	MYT1L	HSPB8	HS2ST1	ANKRD17	GJA8	KIAA0753	GPC4	SRCAP	ADNP	FGFRL1	IFT172	SATB1	ELN	TMEM270	PTHLH	SLC12A2	RFC2	HTT	UBR7	KMT2E	ZSWIM6	B3GAT3	MEGF8	MGP	FKBP6	STX1A	GRIA4	SCARF2	CCDC22	HPDL	BAZ1B	NOG	COL2A1	RBBP8	CHST11	BUD23	ERMARD	ZNF469	LMBRD2	DNAJC30	GATA4	TCF7L2	KIF7	TNNT3	PUS7	IFT122	GATA6	GDF5	ATL3	CDKL5	FLI1	SIAH1	GTF2IRD2	SVBP	WDPCP	SYNCRIP	RHOA	VPS37D	KCNJ8	SLC16A2	EP300	AGO2	HOXA13	MED12	PTH1R	GJA1	MYH3	RNF2	WASF1	PTEN	TBR1	SALL1	IL11RA	NTNG1	GJA5	SPTBN1	PIGO	SF3B4	CNOT3	UBE2A	DLX5	HUWE1	MFN2	PRDM5	CPLANE1	SOX5	KAT8	CLIP2	ACVR1	SETD1A	ACAN	ACTB	TRAPPC4	GTF2IRD1	ATP6V1B2	BCOR	JARID2	PYCR2	POLR3GL	CWC27
HP_OVERLAPPING_TOE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVERLAPPING_TOE	SMAD4	KAT8	PCGF2	MEG3	NEK9	RTL1	WIPI2	EP300	SNRPN	CDC42	ASXL1	TPM2	DLK1	CCDC47	EBP	MYOD1	RAB11B	CPLX1	ATN1	RSPRY1	INTS1	DDX6	HNRNPK	RAB3GAP1	SLC35C1	RAB3GAP2	INTS8	EZH2	TMEM260	CREBBP	SETBP1	BPTF	EXT2	ZNF407	MED25	TMEM94	GDF6	SF3B4	TELO2	CCDC22	KIAA1109	PUF60	PPP1R21	SOD1	ARX	THOC6	SOX5	DHCR7	MAPK1	PIEZO2	USP9X	OTUD6B	HUWE1	TMCO1	UBE2A	SLC6A9	GLI3
HP_LONG_HALLUX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_HALLUX	SOX5	NPR2	FLI1	KCNN3	GNE	PTH1R	SMS	FIBP	SCARF2	ZEB2	FAM20C	NPR3	DPM1	KCNH1	PRKAR1A	POLR3GL
HP_FOOT_OLIGODACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOOT_OLIGODACTYLY	SMOC1	PORCN	APC	WNT7A	SF3B4	DLX5	LRP4	GLI3	WNT10B	DLL4
HP_ABNORMALITY_OF_THE_TARSAL_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_TARSAL_BONES	CANT1	ERGIC1	MYH3	RTL1	MAF	OFD1	POR	TPM2	ADAT3	SLC35D1	CUL7	FLNB	PLAA	HOXD10	TNNI2	KANSL1	ATP6AP2	FGFR2	NOG	LMBR1	CHSY1	NGLY1	DYM	HADHA	GDF5	SYT1	INPPL1	ZMPSTE24	TOR1A	COL11A2	NUP188	ERCC5	NALCN	COL2A1	SATB2	VAC14	KATNB1	PUF60	MMP2	RBM10	BMPR1B	FLNA	EXT1	HADHB	SMPD4	GDF6	MYLPF	EXT2	CHRNG	DOK7	TNNT3	RSPRY1	OTUD5	MEG3	MAFB	PTH1R	WRN	EPB41L1	SLC29A3	ERCC2	OBSL1	LMNA	EMG1	PHEX	KIF14	EBP	COL1A2	MAP3K7	LBR	EXOC7	MYBPC1	EN1	ARID1B	ATP7A	SLC2A10	ADAMTSL1	GLE1	PHGDH	FGFR3	GPX4	CCDC8	CLTCL1	MATN3	SAMD9	GFM2	ZEB2	MKKS	HOXA13	TBX4	PEX1	WNT7A	ERCC6	RELN	EIF2AK3	SMOC1	ECEL1	IPO8	HDAC6	EZH2	PSAT1	GJB2	SCYL2	TELO2	DLK1	ERCC1	MMP14	LEMD3	MUSK	NUP88	FBLN1	FGFR1	GJB6	MAGEL2	AEBP1	NDE1	FIG4	GLI3	ZC4H2	FBN1
HP_SANDAL_GAP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SANDAL_GAP	CANT1	B3GALT6	CENPJ	BCR	DSP	ADNP	RAI1	EED	GMNN	MTX2	SMARCA2	RHOA	ATR	EFNB1	FLNB	EP300	DPM1	ESCO2	PIEZO2	NUP85	BMP2	SMOC1	HERC2	EZH2	CTCF	IGF1R	TBX4	FBXW11	ROR2	COX7B	FBXO11	CEP152	YY1	TRIP12	MBD5	SMARCD2	ATRIP	LIG4	B3GAT3	TRAIP	SETD5	CREBBP	ALG12	BPTF	FLNA	SLC26A2	COL11A2	PIK3CA	SATB1	NSD1	NSUN2	IFT43	DCPS	SALL4	SMARCE1	ARID1B	MEIS2	MAPK1	NXN	VPS13B	SUZ12	COL1A2	IFT52	GALNT2	KAT6A	CUL4B	IFT57	PLK4	CRKL	LBR	NBAS	CILK1	RBBP8	LTBP4	AEBP1	SVIL	PRKG2	BCOR	CENPE	PCNT	TNNT3	CHST3
HP_TOE_CLINODACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TOE_CLINODACTYLY	WWOX	ALG3	NTNG2	SRCAP	IL1RAPL1	ZMIZ1	TRMT1	CLCN4	SATB1	KDM4B	CKAP2L	ZNF41	SLC12A2	PSMD12	RNF6	MED13	DOCK3	GDI1	FTSJ1	MED27	CLCN3	HTT	UBR7	COG8	KMT2E	DLG3	XYLT1	MID2	GRIA4	SATB2	HPDL	KCNJ2	FLNA	RSPRY1	ACTL6B	TNRC6B	SLC9A7	FRMPD4	ARX	MYT1L	ALG13	EMC10	RAB39B	LMBRD2	CNKSR2	DPYSL5	STEEP1	TCF7L2	TANC2	PUS7	PTPN23	TRIP12	FLI1	SVBP	DDX6	SYNCRIP	PIGH	BCAS3	AGTR2	MADD	MAPK8IP3	KCNMA1	DMD	PALS1	ARHGEF6	KCNJ5	AGO2	SALL1	HEPHL1	IQSEC2	ACSL4	FBXW11	WDFY3	UPF3B	RNF2	WASF1	ACTL6A	RPS6KA3	BPTF	SYP	NTNG1	TCF20	SPTBN1	ZNF711	CNOT3	PTCHD1	TSPAN7	DACT1	HUWE1	TGFBR2	USP27X	BCORL1	RLIM	DLEC1	MED12	KAT8	SETD1A	ZNF81	PAK3	TRAPPC4	MECP2	CCDC32	USP9X	JARID2	HCFC1	HS2ST1	ANKRD17
HP_CLINODACTYLY_OF_THE_5TH_TOE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLINODACTYLY_OF_THE_5TH_TOE	KCNJ5	KCNJ2	SALL1	HEPHL1	WWOX	ALG3	TGFBR2	RNF6	CKAP2L	PIGH	DLEC1
HP_DEEP_PLANTAR_CREASES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEEP_PLANTAR_CREASES	EP300	KCNH1	PIGN	CREBBP	HRAS	ATP6V1B2	ERCC6	ATP6V0A2	HNRNPK	TBL1XR1	KCNJ8	KCNN3	ABCC9	PIGQ	MTOR	AIP	ASXL1	GPR101
HP_ABNORMALITY_OF_THROMBOCYTES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THROMBOCYTES	IFNGR1	FASLG	DKC1	COMT	WAS	RTEL1	REL	CFH	UQCRFS1	GATA1	SKIV2L	RAD51	SALL4	RRAS	GBA	DIAPH1	TINF2	RBM8A	CDC42	RIT1	TCIRG1	MPL	FANCC	TERC	IFNG	PNP	SCN9A	TERT	SOS1	MYH9	MED12	ABCA1	ACAT1	RPL18	DZIP1L	ELANE	FANCF	UBE2T	ERCC4	FANCD2	CYCS	NBEAL2	MYORG	PHGDH	TUBB1	HSCB	HELLPAR	SPP1	RRAS2	NFKB2	XIAP	TET2	CTC1	CASP10	NABP1	MARS1	DEF6	STT3B	NHP2	MADD	PRF1	FANCG	FANCL	RNASEH2C	BCR	SC5D	THBD	IFIH1	PSTPIP1	SLC20A2	HOXA11	AGK	TFRC	CIITA	NOP10	CA2	ABCC6	RASGRP2	ANKRD26	SBDS	NLRP3	ARHGAP31	SMARCAL1	SLC46A1	MRAS	MAD2L2	STX11	FANCA	SH2B3	SLC35A1	STIM1	RPL27	PRKACG	FANCB	KDM6A	LYST	CFI	RPL35A	MMACHC	RPS10	LCP2	PMM2	ACTN1	TREX1	RPS26	NIPBL	HPS5	TTC37	UROS	STAT1	JAK2	SLC19A2	RPS15A	MTOR	CD109	DNAJC21	SCN10A	GP9	ABCG8	HMGCL	UBA1	NOS3	FANCI	GATA2	LRBA	GP1BA	ATP6V1B2	SP110	PKHD1	RAG1	PTPN22	SCARB2	PDGFRB	SAMHD1	RPL15	DHFR	BCOR	BLOC1S6	PSAP	ADAR	ITGA2B	FAS	ENPP1	USB1	TBX1	SAMD9L	CD46	KRAS	LBR	CD55	HPS4	CTLA4	SMARCD2	LIG4	NLRC4	CORIN	TCN2	SRC	PML	FERMT3	PRDX1	SPRED2	POMP	MS4A1	CALR	TPP2	PCCB	KCNJ1	CR2	FLT1	SRP54	RFX5	CDC40	NFKB1	DOCK6	SPATA5	RUNX1	CLCN7	OTUD5	ICOS	RPS19	VWF	ATRX	AP3B1	USP18	WFS1	RAD51C	RFXAP	FANCE	FOXP3	GNA14	ATP6AP1	STAT4	SH2D1A	RAG2	FLI1	DTNBP1	MMUT	RPS24	MYSM1	HLCS	PCCA	ABL1	MMAA	DGKE	ADA2	SRSF2	COG6	PLA2G4A	MMAB	TP53	ARHGEF1	THPO	MPIG6B	ADA	DLL4	RPSA	ANKRD11	BTK	ZNFX1	FLNA	UNC13D	PPIL1	NPM1	FIP1L1	GUCY1A1	BRCA2	XRCC2	PRKCD	GP1BB	RNASEH2A	HLA-DRB1	ASXL1	AMN	LARS2	FARS2	EPHB2	BRCA1	ACP5	PTPN11	ADAMTS13	SAMD9	EOGT	MOGS	EFL1	FCGR2A	TNFAIP3	STING1	ABCD4	BRAF	ALG8	STAT3	CD19	ESCO2	HLA-B	ASAH1	TBC1D24	CFHR1	RAF1	TBXA2R	CD36	BTNL2	TNFRSF13B	OSTM1	PDGFB	FYB1	VPS33A	PSMB8	RPS17	RPS7	GFI1B	TALDO1	KMT2D	ALG12	RPS28	STAT5B	FCGR2C	RPL35	ARPC1B	GALC	CD40LG	ERCC6L2	PIK3CD	ARVCF	RPL5	TNFSF12	IRAK1	C3	NRAS	UFD1	RPS27	HPS6	CD81	IKZF5	SARS2	RNASEH2B	HLA-DQA1	P2RY12	LACC1	HIRA	PRKAR1A	PALB2	IVD	RPS20	GNAS	XPR1	COG1	LIPA	OCRL	STOX1	IL7R	ITGB3	NBN	PSMB4	APOE	KIF15	SLC7A7	BLOC1S3	P4HA2	NOTCH1	MGAT2	TMEM165	NSUN2	TBXAS1	SLC37A4	ACD	SOS2	SEC24C	ACAD9	PEPD	PARN	ERBB3	ZBTB16	PIGA	GIMAP5	RASA2	FANCM	TGFB1	MVK	SNX10	ITK	MECOM	SMPD1	NHEJ1	G6PC3	IKZF1	RARA	STXBP2	LMBRD1	BLOC1S5	BRIP1	FCGR2B	RASGRP1	VPS45	MAGT1	OCLN	STAT2	MTHFD1	SLX4	COG4	PSMB9	SCN11A	DGUOK	CISD2	RFXANK	ADH5	RPL11	HMOX1	CUBN	WIPF1	SLFN14	RPL26	LZTR1	CFHR3	JMJD1C	NUMA1	CBL	CFB	ATP7B	WARS2	ETV6	TNFRSF13C	MAP2K1	RPS14	LAT	DNASE1	SF3B1	RYR1	TBL1XR1	DCLRE1C	SOCS1	COL4A5	HLA-DQB1	IRF2BP2	RPL31	ORAI1	ZAP70	ITGA2	RFWD3	HBB	WDR1	WRAP53	RPS29	TSR2	RREB1	RBPJ	TNFSF11	JAM2	PLAU	HPS3	KIT
HP_ABNORMALITY_OF_NEUTROPHILS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_NEUTROPHILS	CIITA	SAMD9	PLN	FASLG	EFL1	DKC1	TNNC1	ABCD4	RPS7	GFI1	GATA1	LDB3	STAT3	BAG3	HAX1	RFXANK	NEXN	PRKCD	CD79A	TICAM1	ZBTB24	AK2	TERC	IFNG	SMARCAL1	PNP	BLNK	TMPO	MYH9	TCF3	LAMTOR2	RPL18	ELANE	RPS17	ERCC3	DSG2	PGM3	MPLKIP	TAFAZZIN	RPS28	USB1	STAT5B	SRSF2	FIBP	TXNRD2	CRYAB	HSCB	RAB27A	CYBB	TNNI3	FANCI	CXCR4	RPL35	WAS	CD40LG	PRDM16	EIF2AK3	XIAP	TET2	CTC1	SLC35A1	CASP10	TRAF3	NCF2	FHL2	PIK3CD	GTF2E2	NABP1	RPL5	NRAS	VPS33A	FANCG	RPS27	PPCS	FANCE	FANCA	FDX2	AP3D1	PACS2	TPM1	TFRC	MAD2L2	MDM4	FANCC	SLC37A4	LRRC8A	FKTN	IGHM	FUT8	SBDS	NLRP3	PRKAR1A	TPP2	UNC93B1	NPM1	SLC46A1	PRF1	RPS20	RMRP	STX11	FCGR3B	SLC35C1	COG4	RPL27	TONSL	ACTC1	IL7R	LYST	MSN	SRP54	RPL35A	MMACHC	RPS10	MYH7	HLA-B	LCP2	RTEL1	IL1RN	RPS26	SCN5A	ACTN2	AGA	GTF2H5	STAT1	TARS1	NSUN2	RPS15A	MEFV	RAC2	DNAJC21	CDCA7	IGLL1	ERCC2	RPL26	NHP2	TLR3	PARN	NCF4	GATA2	GINS1	ZBTB16	LRBA	TCIRG1	CD79B	ANKRD1	MYD88	CYBA	DMD	RUNX1	PIK3R1	RPL15	BCOR	NCF1	MTRR	LMNA	ICOS	G6PC3	FBXL4	RFXAP	FOXP3	CAP2	FAS	VPS13B	IKZF1	RARA	LMBRD1	SAMD9L	DES	RASGRP1	VPS45	DNMT3B	IRAK4	ACP5	LBR	RFX5	PSEN2	KRAS	SMARCD2	CD40	LIG4	TCN2	DOLK	PML	MYBPC3	PRDX1	RECQL4	ASXL1	CLPB	RBM20	OTULIN	PCCB	FANCD2	CDC40	RAF1	GSS	TTN	TNNT2	HELLS	PSEN1	RPS19	MYPN	RNF113A	FTCD	RPL11	ATRX	JAGN1	HTRA2	CUBN	AP3B1	WIPF1	ITCH	ANAPC1	UBE2A	MECOM	PMM2	ABCC9	CSRP3	SH2D1A	TFR2	SEC61A1	CYBC1	CEBPE	MMUT	NUMA1	TDP2	RPS24	TERT	CBL	SLC19A1	GPI	SDHA	NOP10	FMO3	PCCA	ETV6	MMAA	CSF3R	SGCD	VCL	ADA2	RPS14	HAND2	CXCR2	MMAB	SF3B1	TBL1XR1	IL36RN	MYH6	STXBP2	STK4	IRF2BP2	RPL31	BTK	ZNFX1	RAG1	UNC13D	PPIL1	MYSM1	TINF2	FIP1L1	WDR1	WRAP53	RPS29	TSR2	DSP	TCAP	TBK1	GATAD1	AMN	MVK	LAMA4	TAF1A	KIT
HP_PANCYTOPENIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCYTOPENIA	SAMD9	SCARB2	RUNX1	EFL1	TERC	DHFR	BCOR	ALPK1	MTRR	ITK	GFI1	XRCC4	GBA	STAT3	TINF2	IFNG	GNAS	ACD	SLC46A1	RNASEH2A	TCIRG1	MPL	RARA	LMBRD1	SAMD9L	XIAP	SRP72	HAVCR2	TERT	LIG4	FARSB	OSTM1	SBDS	KRAS	NLRC4	TCN2	MTHFD1	UBE2T	PML	SLX4	RECQL4	TALDO1	DNAJC21	STAT5B	CALR	SRSF2	PCCB	RAB27A	FANCD2	SRP54	ATR	RFX5	RFXANK	STN1	BACH2	COQ2	MAN2B1	NABP1	RAC2	CUBN	ITCH	NRAS	ANAPC1	NHP2	PRF1	TNFRSF4	RFXAP	FANCE	FANCA	ZNF699	PSTPIP1	HOXA11	SH2D1A	CD27	CIITA	NOP10	TET2	CA2	NUMA1	WRAP53	FANCC	CBL	DKC1	PRKAR1A	IVD	PCCA	MMAA	COG6	LYST	JAK2	NBN	FANCB	MMAB	SF3B1	ELANE	TBL1XR1	IKZF1	GATA2	IRF2BP2	PALB2	NAXD	NPM1	FIP1L1	TNFSF11	ADA2	ASXL1	AMN	ACP5	HLA-DRB1	MRPS7	ZBTB16	LRBA	PIGA	SP110
HP_ABNORMAL_ERYTHROCYTE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ERYTHROCYTE_MORPHOLOGY	IFNGR1	FAM111A	EPB41	WAS	RTEL1	UQCRFS1	HBB	F2	TCIRG1	YARS2	FANCC	TERC	EXT2	PNP	TP53	UNC45A	TGFB1	ERCC3	FANCF	UBE2T	NDUFA10	TMPRSS6	ERCC4	FANCD2	PHGDH	FH	TPI1	NPHP1	ATRX	HELLPAR	UMPS	HBA1	TET2	CTC1	PHKB	PFKM	MT-CO1	MARS1	RPL18	MT-ND1	DEF6	RIPK1	PRF1	SHPK	FANCG	TREX1	PHF21A	MLX	SPTA1	TERT	SC5D	PSTPIP1	F8	RNU7-1	CIITA	MTR	HBA2	ABCD3	NLRP3	SRD5A3	SMARCAL1	NEUROD1	SLC46A1	RMRP	CYB5R3	MAD2L2	FANCA	MT-TF	STIM1	RPL27	PET100	TKFC	KARS1	KDM6A	LAMB3	KCNE1	LYST	IDH1	RPL35A	MMACHC	MTRR	LCP2	RPS26	UROS	KHK	TARS1	SLC19A2	BLK	SLC4A1	RPS15A	MEFV	PDX1	MTTP	RPS24	FLI1	RAC2	XK	MT-TL1	RHAG	SLCO2A1	GALNT2	INS	PGK1	FADD	DCDC2	SP110	RPL15	NDUFV2	IL37	NDUFA4	FERMT1	SAMD9L	GBA	CD46	ALAS2	DNMT3B	FARSB	LAMA3	CTLA4	NLRC4	SPTB	NDUFAF2	MS4A1	TPP2	PCCB	IL2RB	SRP54	HELLS	ICOS	EGLN1	CAT	RRM2B	PRPS1	ANAPC1	HSPA9	WFS1	NDUFA12	FANCE	ATP6AP1	PUS1	TCN2	TFR2	STX11	NLRP1	FASLG	VPS13A	SNX10	TTR	FAS	TTC7A	CCND1	IFNG	RHD	GCK	HPRT1	RPS19	SLC25A21	MMAB	DNAJC21	ERCC8	UNC13D	THPO	ADA	SLC29A3	RPSA	HBG1	ERCC6	FIP1L1	ANK1	SLC11A2	YARS1	ECHS1	LCAT	XRCC2	PRKCD	LIG4	SLC30A10	KCNE5	GLA	ACVR1	TMEM67	GATA1	AGGF1	ADA2	SLC19A3	COX15	LARS2	FARS2	CELA2A	BRCA1	KCNJ11	ACP5	CEL	IDH2	CASK	TNFRSF11A	SAMD9	APC	EFL1	MT-ND6	FCGR2A	SLC25A13	ABCC8	STAT3	CD19	ASAH1	ZBTB24	SCO2	BMPR1A	SLC40A1	HNF4A	OSTM1	PAX4	MMADHC	UBR1	LIG3	TALDO1	QRSL1	PNPO	MT-TW	RPS28	MMP1	EPO	PSMG2	RPL35	STEAP3	EIF2AK3	CUBN	CFI	RPL5	SMPD1	CYP4F22	TNFSF12	IRAK1	ALPL	C3	VHL	MPL	HMGCL	AASS	TACO1	PIGT	HLA-DQA1	SLC12A3	MDM4	SLC37A4	CRIPT	PALB2	NPM1	IREB2	ALAD	CP	PDGFRA	COG1	CLCN7	LIPA	OCRL	RPS14	HLA-B	PSMB4	MT-CO3	KLF1	PHKA2	FECH	EPHB4	NDUFB8	NSUN2	TBXAS1	COL3A1	ATP11C	HNF1A	CDAN1	EPAS1	ALX4	CDCA7	ERCC2	NHP2	CFH	CD247	ZBTB16	PIGA	APOB	COL7A1	RUNX1	ACAD8	CYB5A	ITK	GATB	EPB42	NHEJ1	G6PC3	RAG2	DCLRE1C	CD3G	NFKB2	FCGR2B	COA8	SBDS	KRAS	RASGRP1	MT-TS2	ALDOA	MTHFD1	SLX4	RECQL4	ASXL1	PSMB9	TSR2	GDF2	GATC	CHD7	GSS	RFXANK	IL2RA	ADH5	FTCD	COQ2	CD59	WIPF1	CD81	MT-ND5	CFHR3	SLC25A38	SYK	SEC61A1	NUMA1	POLG	CBL	PARN	DKC1	CFB	ATP7B	NOP10	FMO3	ABCB7	NBN	NOD2	MMUT	ETV6	RHCE	RPGRIP1L	TBL1XR1	COL17A1	SLC35C1	STXBP2	SOCS1	TINF2	HLA-DQB1	CD151	RPL31	COL2A1	RAG1	SDHB	RFWD3	ADAR	RPS29	NDUFS1	RPL11	ACVRL1	CA2	ENG	WT1	ISCU	SLC7A7	COX4I2	BCL10	RBM8A	SLC2A1	PKLR	YIPF5	IL7R	KLF11	OPA1	RPS7	C1GALT1C1	RAD51	NDUFA13	LPIN2	DNM1L	AMMECR1	G6PD	AK2	SH2B3	KRT5	TOR1A	ABCA1	LAMC2	ABCB6	MPLKIP	NDUFS2	PTPN22	MT-TH	HSCB	SPP1	GCNT2	FOXRED1	DNAJC19	SURF1	CASP10	GTF2E2	RPS27	NABP1	STAT1	KCNQ1	GALT	CLCNKB	MADD	FANCL	NTRK1	NT5C3A	TNFRSF4	THBD	GCLC	PHKG2	FDX2	PACS2	TFRC	KIF1B	EWSR1	NDUFS4	HPGD	TRNT1	PRKACG	LYRM7	RPS10	BIRC3	FGF23	ELANE	IFT140	MT-CO2	HK1	TF	HBG2	NDUFAF3	ERF	ABCG8	FANCB	UBA1	FANCI	LRBA	MYD88	NDUFS8	GREM1	SCARB2	DHFR	BCOR	CISD2	PSAP	CLPX	SEC23B	USB1	RPS17	KCNN4	CPOX	CD55	NDUFA9	GYPC	SMARCD2	PTPN2	PML	FERMT3	PRDX1	GLRX5	IRX5	CALR	ACTN4	CR2	RFX5	CDC40	NFKB1	FARSA	CDIN1	KRT14	TEK	PANK2	ZBTB20	RAD51C	RFXAP	IL12B	FOXP3	GNA14	STAT4	PCNT	CYBC1	UROD	COL4A1	MYSM1	SLC19A1	PTH1R	THRA	PCCA	ITGB4	MMAA	DGKE	SRSF2	PLA2G4A	ANKRD55	FN1	NDUFS7	PDHA1	MPIG6B	PTF1A	SMAD4	SDHC	SDHA	NSMCE2	ANKRD11	BTK	NDUFA2	HAMP	DAXX	BRCA2	MT-ND4	DDX41	HLA-DRB1	AMN	CBLIF	C2orf69	ADAMTS13	PPOX	CAD	SAR1B	PLEC	STK11	PLEKHM1	TNFAIP3	STING1	ABCD4	JAK2	IRF4	ALG8	XRCC4	CFHR1	HAVCR2	BTNL2	TNFRSF13B	KIF23	VPS33A	PIEZO1	PSMB8	NDUFAF5	PGM3	KMT2D	CARD10	STAT5B	FOXP1	PTEN	CD40LG	ERCC6L2	ELMO2	NRAS	NHLRC2	CASR	NDUFV1	DPAGT1	ZNF699	SARS2	ITGA2B	HBD	PRKAR1A	RPS20	ACSL4	KIF15	TNFSF11	GTF2H5	GNB2	APPL1	ACD	TYMP	PEPD	LARS1	RPL26	EPOR	MUC1	NPHP4	GSR	ERBB3	FANCM	MVK	NDUFAF6	NDUFS3	IKZF1	IL2RG	RARA	LMBRD1	BRIP1	VPS45	BPGM	STAT2	SLC25A10	LIPT1	SFXN4	MTFMT	AGXT	RNF113A	HMOX1	GP1BA	REN	MECOM	MT-TN	TBCE	MTX2	GPX1	GPI	TNFRSF13C	A4GALT	LAT	DNASE1	SF3B1	KIT	DBH	AK1	IRF2BP2	ORAI1	ZAP70	WRAP53	COX10	MT-TQ	MALT1
HP_HEMOLYTIC_ANEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMOLYTIC_ANEMIA	FASLG	PKLR	CTLA4	EPB41	FCGR2A	TNFAIP3	WAS	CFH	ITK	HBB	EPB42	RAG2	ANK1	CD19	SLC4A1	PRKCD	RHAG	PFKM	FOXP3	CD3G	G6PD	FAS	NFKB2	CFHR1	CD46	FCGR2B	KCNN4	RASGRP1	BPGM	BTNL2	CPOX	PNP	TNFRSF13B	KRAS	GYPC	SPTB	PIEZO1	ALDOA	ABCB6	PGM3	SPTA1	KMT2D	TPI1	CASP10	MS4A1	TPP2	HELLPAR	SPP1	CR2	IL2RB	RFX5	GSS	PSMG2	NFKB1	RFXANK	CD40LG	IL2RA	ICOS	CFI	HMOX1	GP1BA	UROS	STAT1	CD59	WIPF1	TNFSF12	IRAK1	C3	CD81	NRAS	NHLRC2	DEF6	NT5C3A	TNFRSF4	RFXAP	HBA1	THBD	GCLC	STAT4	PIGT	RNU7-1	CFHR3	NLRP1	CIITA	CYBC1	HBA2	UROD	GPX1	COL4A1	TTC7A	SLC19A1	GPI	GALT	CFB	PGK1	NBN	RHD	RHCE	DGKE	ALAD	TNFRSF13C	LAT	DNASE1	STAT3	KDM6A	ADA	AK1	LCP2	SOCS1	TREX1	FECH	ZAP70	RAG1	SLC2A1	GATA1	ADAR	GNB2	PTPN22	ATP11C	LCAT	ATP7B	HK1	ABCG8	HLA-DRB1	STIM1	GSR	ACP5	CD247	LRBA	PIGA	ADAMTS13	CASK
HP_ABNORMAL_EOSINOPHIL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EOSINOPHIL_MORPHOLOGY	IKBKG	FASLG	RAG1	BCL11B	NLRP1	RNU4ATAC	STAT3	IL7R	CARD9	WAS	FAS	CD3E	TBX21	GFI1	CDH23	RAG2	EXTL3	SREBF1	PRKCD	DCLRE1C	SLC46A1	FOXP3	IL6ST	IL2RG	SRSF2	ZNF341	RASGRP1	SLC27A4	BTNL2	JAK1	ELANE	NLRP3	SRP54	DOCK8	ADA	IPO8	CAPN3	TET2	PGM3	ASXL1	ZAP70	CARD10	CASP10	CHD7	TRAC	CARD11	CD3D	PDGFRA	USP8	LIG4	CD247	WIPF1	HLA-DRB1	RBM8A	RMRP	TCIRG1	KIT	PDGFRB	SPINK5
HP_LEUKOPENIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEUKOPENIA	FANCM	EOGT	SCARB2	EFL1	CTLA4	FCGR2A	RPL15	STING1	BCOR	BLOC1S6	ITK	GATA1	RAD51	G6PC3	RTEL1	STAT3	VPS13B	RARA	FANCC	BRIP1	GBA	AK2	FCGR2B	VPS45	BTNL2	RPL35A	VPS33A	TGFB1	RPL18	RPS17	RPS7	FANCF	ERCC4	PGM3	PML	SLX4	FANCD2	TERT	RPS28	STAT5B	SPP1	SRP54	RPL35	DOCK6	OTUD5	ERCC6L2	ADH5	RPL11	NABP1	RAC2	RPL5	IRAK1	PRF1	FANCL	RPL26	RAD51C	FANCE	RPS27	ATP6AP1	ZNF699	STAT4	SARS2	CA2	NUMA1	RPS24	MYSM1	ARHGAP31	DKC1	PRKAR1A	PALB2	IVD	UBE2T	SLC46A1	SAMD9	RPS20	MAD2L2	ADA2	FANCA	RPS14	DNASE1	RPS19	LIPA	RPL27	FANCG	TBL1XR1	LYST	RPS10	MMUT	DLL4	TREX1	RPS26	SLC7A7	IRF2BP2	RPL31	UROS	NOTCH1	NPM1	RFWD3	RPS15A	TBXAS1	FIP1L1	PTPN22	RPS29	SBDS	BRCA2	TSR2	XRCC2	DNAJC21	RBPJ	TINF2	DDX41	HLA-DRB1	HMGCL	FANCB	BRCA1	FANCI	ZBTB16	PIGA
HP_TALIPES_CALCANEOVALGUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TALIPES_CALCANEOVALGUS	PLA2G6	ELN	NEFL	LMX1B	DHCR7	FBLN5	VPS33B	ALDH18A1	SPECC1L	ERMARD	ATRX	CHRNG	VIPAS39	PMP22
HP_LYMPHOPENIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LYMPHOPENIA	FASLG	RAG1	TERC	LCK	TNFAIP3	WAS	STING1	REL	MYC	ITK	GFI1	SKIV2L	CD8A	RIPK1	ICOS	EXTL3	NHEJ1	G6PC3	RAG2	XRCC4	PIK3CD	CD19	IL7	JAK3	TINF2	LEPR	PRKCD	CD3G	PIK3R1	NFKB2	ZBTB24	FAT4	RASGRP1	DNMT3B	SMARCAL1	PNP	ACP5	MAGT1	TERT	TNFRSF13B	DOCK2	CTLA4	RAC2	ELANE	AK2	TCN2	MTHFD1	ADAMTS3	PGM3	FOXN1	ALG12	PSMB9	PTPRC	MS4A1	TPP2	TTI2	SPP1	CR2	CD3E	RFX5	RFXANK	CD3D	RRAS2	IL2RA	HELLS	ATM	IKZF3	TCF3	CASP10	USP8	CHD7	CD247	STAT1	WIPF1	UNC119	TNFSF12	IRAK1	CD81	TOM1	DEF6	RFXAP	MCM10	STAT4	PTEN	CORO1A	SYK	SEMA3E	TFR2	IL2RG	NSMCE3	BCL11B	CIITA	CYBC1	MDM4	FAS	CTPS1	DOCK8	NFKB1	CDH23	SGPL1	NBN	LEP	SAMD9	RMRP	TNFRSF13C	BTK	CCBE1	LAT	TRNT1	FCHO1	KNSTRN	MYD88	IL7R	DCLRE1C	MSN	IKZF1	SRP54	ADA	STK4	PSMB4	IGHM	CXCR4	TTC37	ZAP70	MYSM1	WDR1	EPG5	CDCA7	IVNS1ABP	GATA2	IKBKB	ADA2	LRBA	TCIRG1	SP110
HP_MEGALOBLASTIC_ANEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEGALOBLASTIC_ANEMIA	PRDX1	MTR	PHGDH	DHFR	SLC19A2	SLC19A1	SLC46A1	AMN	FTCD	CUBN	HPRT1	LMBRD1	WFS1	MMADHC	MMACHC	CBLIF	MTRR	UMPS	MTHFD1
HP_AUTOIMMUNE_HEMOLYTIC_ANEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AUTOIMMUNE_HEMOLYTIC_ANEMIA	FASLG	NLRP1	CIITA	ZAP70	WAS	RAG1	FAS	CASP10	STAT1	TPP2	TTC7A	ITK	IL2RB	RFX5	PSMG2	NFKB1	RFXANK	RAG2	NBN	PRKCD	CD3G	STAT3	RASGRP1	PNP	DEF6	STIM1	RFXAP	CTLA4	ACP5	CD247	LRBA	FOXP3	ADA	LCP2
HP_IRON_DEFICIENCY_ANEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRON_DEFICIENCY_ANEMIA	APC	COL2A1	FASLG	HLA-DQA1	STK11	WAS	SLC12A3	CASP10	ABCD3	ATRX	HBB	MMP1	EIF2AK3	CLPX	DAXX	FAS	ALAS2	COL7A1	GALNT2	PLA2G4A	KCNQ1	CLCNKB	CD55	FN1	KCNE1	FOXP3	ZNF699	HLA-DQB1	FGF23
HP_ABNORMAL_BLEEDING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLEEDING	FASLG	NDE1	IL12A-AS1	TGFB3	TGFBR1	COMT	IL12A	WAS	COL4A1	CFH	CDKN2B	APP	MAT2A	RRAS	GBA	KANSL1	SDHC	PRKCSH	FAH	APOE	F2	RIT1	NDP	CTLA4	TERC	SLC25A11	IFNG	PDE8B	SH2B3	COPA	KRIT1	SOS1	MYH9	MED12	LRP5	CDKN1A	DZIP1L	WFS1	BAP1	HLA-B	GATA1	FGG	NBEAL2	MYORG	ERAP1	ATRX	SMARCE1	HELLPAR	ZMPSTE24	SLC2A10	DNMT3A	DLST	BMS1	TET2	SLC39A13	CASP10	BRCC3	USP8	PTEN	TRAF7	NABP1	VKORC1	ADA2	NFIX	COL1A2	RASA1	MPI	TGFBR2	CYSLTR2	TREX1	SERPINE1	LMNA	NTRK1	COL5A2	STAT4	SMAD3	LMAN1	ATP7A	FGB	F8	SLC20A2	HOXA11	GNAQ	VHL	TSC1	MVK	ABCC6	FANCC	RASGRP2	MPL	ANKRD26	NLRP3	ARHGAP31	FZD4	GDF2	CDH23	AEBP1	CALR	CYP11B2	RPS20	CYP11B1	MRAS	SREBF1	ATP6V1A	PLEC	SLC35A1	STIM1	HPGD	TTC7A	PRKACG	HLA-DPA1	TNXB	NOTCH3	AMACR	LYST	TGFB2	ACVRL1	MMACHC	JAK2	LCP2	ACTN1	TEK	HPS5	PRKACA	UROS	EPCAM	COL3A1	ARMC5	CFHR3	KIF1B	PRLR	ENG	PRKAR1A	FLI1	CTNNB1	FLNA	TMEM127	CD109	THSD1	F11	TERT	GP9	SLCO2A1	PDGFB	MYH11	ABCG8	ZEB2	FKBP14	ARL6IP6	ZNF408	GATA2	GP1BA	HBA1	MYD88	SP110	C2	PIK3CA	PKHD1	GREM1	IKBKG	C4A	PTPN22	SCARB2	PDGFRB	COL5A1	ETHE1	PLOD1	PROC	CST3	NEDD4L	VPS33B	BCOR	MYC	CISD2	FGA	ELN	ITGA2B	MLH3	GGCX	ENPP1	TBX1	TLR4	SDHAF2	SPARC	APC	F5	KRAS	CFHR1	RET	HPS4	PRKG1	COL1A1	MSH2	NLRC4	SRC	CD46	TNFRSF1A	PML	SIK3	FERMT3	CFI	SPRED2	GCDH	MS4A1	PCCB	SERPINF2	CR2	FANCD2	DOCK6	RUNX1	CLCN7	PROS1	ICOS	TSC2	C1S	VWF	B4GALT1	ATP8B1	CAT	PDCD10	AP3B1	USP18	ZNF469	PMM2	SDHB	GNA14	TFR2	STX11	BMPR1A	DTNBP1	SNX10	FAS	ATOH7	UROD	F10	IFNGR1	TSPAN12	EPHB4	PLOD3	SMAD4	PCCA	PRTN3	SMAD2	COG6	ADAMTS2	TP53	TMTC3	FAN1	ANGPTL6	DLL4	HLA-DPB1	F13A1	SDHA	MYLK	MTTP	NF1	ZNFX1	UNC13D	ANO6	NPM1	COG8	FIP1L1	ATP6V0A2	PRDM5	DAXX	IL23R	C1R	HEY2	PRKCD	GP1BB	AGGF1	SDHD	RFT1	ASXL1	AMN	MCFD2	RIN2	EPHB2	PRF1	IL18BP	PTPN11	EOGT	FN1	STK11	LBR	SLC25A13	IRF4	BRAF	STAT3	CD19	G6PC1	GNA11	PEX12	CTCF	RAF1	TBXA2R	MAX	CD36	TNFRSF13B	KIF23	XYLT1	FYB1	GSN	DOCK8	GFI1B	F13B	SLC51A	PUF60	STAT5B	SRSF2	ITGB4	RAB27A	ALDOB	NF2	FCGR2C	STN1	MLH1	LMX1B	CAPN5	ARVCF	SEC63	ELMO2	DNM2	CBS	SMO	TNFSF12	ALPL	UFD1	F9	DPAGT1	UBAC2	AKT1	HPS6	FANCE	FANCA	MFAP5	CD81	IKZF5	P2RY12	SLC37A4	MEFV	HIRA	NFKB1	IVD	SAMD9	HPS1	XPR1	PDGFRA	ARFGEF2	GP6	F12	ITGB3	SEMA4A	DSE	CYP26C1	SMARCB1	CTC1	IL10RA	AIP	MDH2	SLC7A7	BLOC1S3	SUFU	TNFSF11	P4HA2	XYLT2	NOTCH1	CCR1	MGAT2	STXBP1	EIF2AK4	ACP2	F7	PMS2	RHBDF2	GNAS	NRAS	SOS2	SEC24C	ACAD9	PEPD	MAPK1	EPOR	ARF1	RS1	ZBTB16	GIMAP5	FBN1	RASA2	LOX	B3GALT6	RB1	KCNJ5	SMPD1	TGFBR3	NFKB2	IKZF1	RARA	CCM2	BLOC1S5	RANBP2	RASGRP1	KRT1	ACP5	IL10	SBDS	PET100	EFEMP1	LMBRD1	OCLN	STAT2	CLCN2	CPT2	PMS1	MAP2K2	ACTA2	ERMARD	THPO	HBA2	CDKN1B	NEU1	SF3B1	HMOX1	CHST14	CUBN	ADAMTSL2	SLFN14	WIPF1	RRAS2	COLGALT1	RNF168	ERCC8	LZTR1	JMJD1C	PDE11A	HLA-DRB1	NUMA1	CBL	HSD3B7	ATP7B	MSH6	PLVAP	MEN1	ETV6	TCIRG1	TNFRSF13C	CACNA1D	TAOK1	MAP2K1	ATP6V1E1	RPS14	RYR1	TBL1XR1	FH	KIT	FOXE3	STXBP2	MMUT	IPO8	KLRC4	COL4A2	IRF2BP2	ORAI1	ITGA2	ERCC6	HMCN1	MAP1B	RREB1	CDKN2C	EPAS1	RBPJ	JAM2	BEST1	MTAP	PLAU	HPS3
HP_THROMBOCYTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THROMBOCYTOSIS	IFNGR1	THPO	TGFB1	MPL	TET2	RPL15	HLA-DQA1	STING1	RPS24	REL	LACC1	GATA1	SKIV2L	IFNG	ABL1	RPS20	ADA2	RPS14	TBC1D24	RPS19	RPL27	JAK2	CD55	SF3B1	RPL35A	RPS10	ACAT1	RPL18	RPS17	RPS7	PMM2	MTHFD1	RPS26	HLA-DQB1	ELANE	RPL31	RPSA	TTC37	RPS28	CALR	HBB	RPS15A	RPL35	RPS29	TSR2	RPL11	HMOX1	PIK3CD	RPL5	MARS1	RUNX1	SH2B3	HMGCL	RPL26	RPS27	BCR	PSTPIP1	ATP6V1B2
HP_NORMOCHROMIC_ANEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NORMOCHROMIC_ANEMIA	RPL31	TET2	ASXL1	RPL15	RPS28	TPI1	RPS24	ALDOA	UQCRFS1	GATA1	RPS15A	RPL35	RPS29	LCAT	RPS20	TSR2	ADA2	RPL11	HK1	SRSF2	RPL5	RPS19	RPL27	BPGM	SF3B1	TREX1	RPL26	RPS27	RPL35A	RPS10	RPL18	RPS17	RPS7	KIT	RPS26
HP_RETICULOCYTOPENIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETICULOCYTOPENIA	RPL31	RPL15	RPS28	FANCC	RPS24	TERT	MYSM1	GATA1	FANCD2	RPS15A	RPL35	RPS29	STEAP3	PRF1	RPS20	RPS19	TSR2	ADA2	RPL11	RPS17	RPL5	TERC	IFNG	RPL27	SBDS	RPL26	RPL35A	RPS27	RPS26	RPS10	FANCE	FANCA	RPL18	RPS7	TCN2
HP_NORMOCYTIC_ANEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NORMOCYTIC_ANEMIA	DNAJC21	HK1	SRSF2	EFL1	TET2	ASXL1	TPI1	BPGM	ALDOA	SF3B1	TREX1	SRP54	TOR1A	RPS29	ATP6AP1	SBDS	MYD88	KIT
HP_INCREASED_HEMOGLOBIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_HEMOGLOBIN	JAK2	EPO	EPAS1	VHL	HBB	GATA1	SH2B3	EGLN1
HP_POLYCYTHEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYCYTHEMIA	JAK2	ENG	KCNN4	VHL	FH	SLC30A10	EPO	HBA2	GATA1	SLC4A1	CYB5R3	ACVRL1	EGLN1	EPAS1	SH2B3	EPOR	BPGM	PKLR	HBB	CCND1	PIEZO1	HBA1
HP_GIANT_PLATELETS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GIANT_PLATELETS	SLC35A1	GP9	ITGA2B	GP1BB	CD36	LBR	ABCG8	MYH9	GP1BA
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	PGM3	FASLG	CIITA	STAT3	ITCH	RAG1	FAS	RASGRP1	CASP10	STAT1	PNP	RFX5	TPP2	ICOS	RFXAP	RFXANK	FOXP3	PRKCD	FCGR3B
HP_CONGENITAL_THROMBOCYTOPENIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_THROMBOCYTOPENIA	GATA1	MECOM	MYH9	STAT2	WAS	HOXA11
HP_THROMBOEMBOLISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THROMBOEMBOLISM	FLNC	JAK2	PRDX1	KCNN4	TTR	TNNI3	MYPN	CITED2	MTRR	FCGR2C	TNNT2	PRKAR1A	SCN5A	SLC4A1	KCNQ1	SERPINC1	HABP2	MT-CYB	ADA2	KIF20A	MTHFR	EPOR	CBS	NPPA	HRG	F12	F2	UBA1	TLL1	MMACHC	PIEZO1	PIGA	F13A1
HP_HYPOPLASTIC_ANEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_ANEMIA	SAMD9L	LPIN2	ZNF699	MVK	RPS19	RMRP
HP_LEUKEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEUKEMIA	SAMD9	CALR	EFL1	GATA2	MPL	KRAS	GFI1	GATA1	BRAF	XRCC4	NRAS	DNMT3A	HAX1	PIK3R1	TERT	SCN9A	MLH1	RPL18	RPS17	RPS7	F13B	RPS28	SRSF2	JAK2	BCR	RPL35	LZTR1	TET2	EVC2	SAMD9L	RPL5	GLI1	WAS	BRCA2	FANCG	CEBPA	IDH1	RNASEH2C	RUNX1	RPS27	NSD1	FANCE	FANCA	IFIH1	NBN	BAX	FLT3	PDGFRB	MLLT10	RNASEH2B	FANCC	TREM2	SBDS	DKC1	SETD2	NUMA1	RPS20	BUB1B	ALAD	CBL	ARHGAP26	SH2B3	RARA	RPL27	MSH2	ELANE	DYNC2LI1	ETV6	IKZF1	SRP54	RPL35A	RPS10	SH3GL1	PIK3CA	NF1	RPS26	SETBP1	EVC	NSUN2	SPRED1	RPS15A	MEFV	LPP	DNAJC21	SCN10A	POT1	MDM2	BUB3	CREBBP	CEP57	ERBB3	STS	MYD88	TCIRG1	SAMHD1	APC2	RPL15	RB1	TERC	SMPD1	ADAR	APC	LIG4	RECQL4	ASXL1	TAL1	SCN11A	PIGL	FANCD2	THPO	CHEK2	ADH5	PTPN11	RPL11	ATRX	TYROBP	BLM	WIPF1	ANAPC1	RPL26	ATM	BRD4	CHIC2	PICALM	NUP214	RPS24	ABL1	ADA2	MAP2K1	RPS14	RPS19	CBFB	NPM1	SF3B1	TP53	BUB1	CDKN2A	KIF11	RPL31	TRIP13	EP300	GNB1	RPS29	PDGFRA	TSR2	F13A1	KIT	RNASEH2A	TAL2	DDX41	NUTM1	TREX1
HP_ABNORMAL_BASOPHIL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BASOPHIL_MORPHOLOGY	SRSF2	ASXL1	BCR	ABL1	RUNX1	BACH2	TET2	KIT
HP_GRANULOCYTOPENIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GRANULOCYTOPENIA	SF3B1	UNC13D	RPS28	TET2	AK2	TAFAZZIN	ELANE
HP_APLASTIC_ANEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASTIC_ANEMIA	CD27	PALB2	EFL1	RECQL4	TERC	TERT	NOP10	DNAJC21	GFI1	SRP54	PRF1	TINF2	SBDS	IFNG	ACD	XIAP	SRP72	NBN	FANCB	ANAPC1	GATA2	NHP2	ELANE	TCIRG1	HOXA11	SH2D1A
HP_RENAL_AMYLOIDOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_AMYLOIDOSIS	B2M	MEFV	NLRP3	SLC7A7	COL7A1	MMP1	SAA1
HP_ACUTE_KIDNEY_INJURY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_KIDNEY_INJURY	PRPS1	SLC22A12	SAA1	HNF1B	CFH	HELLPAR	FLT1	CFB	CCND1	SLC26A1	HPRT1	CLCNKB	DGKE	CFI	RYR1	CFHR1	CD46	LPIN1	C3	LDHA	STOX1	MT-CO3	CACNA1S	PYGM	APRT	SLC2A9	MT-CO1	BSND	DZIP1L	PIGA	THBD	STAT2	ALDOA	CFHR3	CLCNKA	CORIN	TCN2	PKHD1
HP_VACUOLATED_LYMPHOCYTES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VACUOLATED_LYMPHOCYTES	GLB1	CLN3	SLC17A5	FUCA1	NEU1	MAN2B1	LYST	AGA	PNPLA2
HP_RETICULOCYTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETICULOCYTOSIS	FASLG	PKLR	FAS	RHAG	PGK1	EPB42	RHD	SLC4A1	SEC23B	RHCE	PRKCD	PFKM	G6PD	CFHR1	SLC2A1	KCNN4	RASGRP1	CPOX	GYPC	SPTB	PIEZO1	ABCB6	MTTP	UROS	KLF1	GATA1	HBB	HBG2	ANK1	SPTA1	CLCN7	CASP10	CDIN1	HK1	CDAN1	CUBN	NHLRC2	ABCG8	AMN	CFH	PIGA	GCLC	CFHR3	EPB41	ADAMTS13	CASK
HP_SIDEROBLASTIC_ANEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SIDEROBLASTIC_ANEMIA	ERCC4	FANCM	SLX4	FANCD2	ALAS2	RFWD3	RAD51	PALB2	UBE2T	MAD2L2	BRCA2	XRCC2	FANCA	YARS2	SLC19A2	FANCC	BRIP1	ISCU	TRNT1	FANCG	HSPA9	WFS1	FANCB	FANCL	RAD51C	LARS2	BRCA1	FANCE	FANCI	ABCB7	PUS1	FANCF	PNPO
HP_ACANTHOCYTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACANTHOCYTOSIS	CAD	GATA1	SAR1B	MTTP	VPS13A	CYP4F22	SC5D	KCNN4	PANK2	TOR1A	SPTB	APOB	XK
HP_ABNORMALITY_OF_COAGULATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_COAGULATION	AKR1D1	HSD17B10	RINT1	CYP7B1	DKC1	SLC25A13	RTEL1	CFH	UQCRFS1	ABCC2	MGAT2	RRAS	BRAF	ALG8	DPM1	DPM2	STAT3	RBM8A	FAH	F2	RIT1	PEX3	RAF1	HAVCR2	LYST	DDOST	OSTM1	SOS1	VPS33A	ITGA2B	TCF4	F8	LMAN1	GFI1B	F13B	GNE	FGG	VWF	ALG12	NBEAL2	STAT5B	HELLPAR	COX16	HBB	SERPINC1	CTC1	PROC	CFI	MCFD2	NABP1	VKORC1	COG2	MPI	FGA	GP1BB	HRG	GALT	PRF1	DPAGT1	F9	HMGCL	TERT	SERAC1	FGB	IKZF5	HSD3B7	HLA-DQA1	SLC37A4	ABCD3	PRKAR1A	SRD5A3	DLD	SHOC2	NPM1	MRAS	PGM1	ATP6V1A	STX11	PEX6	PEX19	F12	IDH1	KLKB1	PMM2	PEX12	F5	PLG	AGA	F7	TRMU	SPTA1	ACD	NRAS	SOS2	F11	GP9	GATA6	ACAD9	LARS1	NHP2	RYR1	PARN	GATA2	HADH	ZBTB16	GP1BA	PEX16	MYD88	RASA2	PEX1	BCOR	EPB42	PEX11B	ITGB3	GGCX	USB1	NR1H4	RARA	XIAP	MICOS13	KRAS	NGLY1	SEMA4D	PEX10	STIM1	ATP6V0A2	PEX13	PET100	SERPINE1	SLC4A1	SSR4	STAT2	NLRC4	CD46	PEX5	PML	COG4	PEX26	SPRED2	MPDU1	SLC30A10	LZTR1	AHCY	PROS1	RFT1	B4GALT1	EFL1	RRAS2	TERC	TEK	ALG6	MCM10	THBD	SPTB	GNA14	F10	PEX14	NUMA1	TFAM	PTH1R	NOP10	PTPN11	GPR35	MAP2K1	ATP6V1E1	PEX2	MST1	ALG2	TBL1XR1	CACNA1S	UNC13D	STXBP2	TINF2	F13A1	HLA-DQB1	SLC25A15	IRF2BP2	ORAI1	MTTP	ANO6	COG8	NBAS	FIP1L1	WRAP53	ANK1	AMACR	FLNA	ALDOB	SLC7A7	SERPINF2	CBL	BCS1L	AGGF1	IDH2
HP_REDUCED_FACTOR_XI_ACTIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_FACTOR_XI_ACTIVITY	MPI	F11	ALG12	ALG6	MGAT2	NGLY1	PMM2	SOS1	LZTR1	SLC37A4	ALG8
HP_NONSPHEROCYTIC_HEMOLYTIC_ANEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NONSPHEROCYTIC_HEMOLYTIC_ANEMIA	GPI	HK1	KCNN4	HBA2	HBA1	PIEZO1	SLC4A1	BPGM	ALDOA	HBB
HP_HYPOCHROMIC_ANEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOCHROMIC_ANEMIA	APC	TGFB1	FASLG	TET2	ALAS2	HLA-DQA1	WAS	SLC12A3	ABCD3	GATA1	LPIN2	IREB2	CLPX	HBB	FAS	CP	TRNT1	PLA2G4A	HBA2	KARS1	CD55	SF3B1	FN1	KCNE1	ABCB7	TMPRSS6	HLA-DQB1	FGF23	COL2A1	STK11	CARD10	CASP10	IRX5	ATRX	HSCB	HBA1	TF	MMP1	EIF2AK3	DAXX	ELMO2	COL7A1	GALNT2	KCNQ1	CLCNKB	SHPK	DNAJC19	FOXP3	ZNF699	C2orf69	PUS1
HP_SUBCUTANEOUS_HEMORRHAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBCUTANEOUS_HEMORRHAGE	FASLG	TGFB3	TGFBR1	COMT	MPL	WAS	ETHE1	KRAS	PLOD1	MAT2A	BRAF	GBA	STAT3	CD19	PRKCD	CFHR1	CTLA4	TERC	TBXA2R	IFNG	LYST	PDE8B	TNFRSF13B	PDGFB	FYB1	SOS1	MYH9	ITGA2B	GSN	COL5A2	F8	GFI1B	F13B	SLC51A	TBX1	GATA1	VWF	NBEAL2	MYORG	STAT5B	RAB27A	SLC2A10	FCGR2C	SLC39A13	SLC35A1	CASP10	USP8	PTEN	ARVCF	RIN2	TGFBR2	MCFD2	NABP1	FKBP14	NFIX	COL1A2	CBS	TNXB	GP1BB	TNFSF12	F2	UFD1	NTRK1	SMAD3	SMAD4	LMAN1	ATP7A	HPS6	FANCE	FANCA	SLC20A2	HOXA11	MFAP5	CD81	MVK	ABCC6	P2RY12	FANCC	SLC37A4	COL3A1	ANKRD26	HIRA	NLRP3	PRKAR1A	NFKB1	CDH23	AEBP1	PRF1	SAMD9	HPS1	XPR1	CLCN7	GP6	PRKACG	HLA-DPA1	ITGB3	DSE	TGFB2	ACVRL1	AIP	JAK2	APOE	LCP2	PLEC	HPS5	PRKACA	BLOC1S3	TNFSF11	ARMC5	F7	GNAS	FLNA	F5	CD109	SEC24C	GP9	PROC	PEPD	MAPK1	MYH11	CFH	ARL6IP6	GATA2	ZBTB16	GP1BA	HBA1	GIMAP5	PTPN22	MYD88	C2	FBN1	C4A	SCARB2	PDGFRB	COL5A1	LOX	B3GALT6	BCOR	ELN	NFKB2	ENPP1	RARA	BLOC1S5	RASGRP1	TET2	ACP5	STIM1	SBDS	HPS4	SERPINE1	OCLN	PROS1	PRKG1	COL1A1	TNFRSF1A	PML	SIK3	FERMT3	ACTA2	MS4A1	CALR	SERPINF2	GDF2	CR2	FANCD2	HBA2	RUNX1	ICOS	C1S	NEU1	ATRX	CHST14	USP18	ADAMTS2	SLFN14	WIPF1	ZNF469	GNA14	CFHR3	F10	TFR2	JMJD1C	STX11	DTNBP1	SNX10	PDE11A	NUMA1	FAS	TERT	ATP7B	PLOD3	PTPN11	ETV6	TCIRG1	TNFRSF13C	MAP2K1	PRTN3	SMAD2	GGCX	TBL1XR1	FOXE3	STXBP2	IPO8	HLA-DPB1	F13A1	IRF2BP2	ORAI1	MYLK	UNC13D	TREX1	NPM1	ITGA2	COG8	FIP1L1	SH2B3	PRDM5	C1R	HEY2	ENG	RREB1	JAM2	ADA2	MTAP	EPHB2	PLAU	HPS3
HP_PERSISTENT_BLEEDING_AFTER_TRAUMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERSISTENT_BLEEDING_AFTER_TRAUMA	GATA1	VWF	F5	F13A1	SERPINF2	P2RY12	F9	MCFD2	SERPINE1	F13B	F8
HP_MICROCYTIC_ANEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROCYTIC_ANEMIA	ALAS2	HBB	HBD	SRD5A3	LPIN2	IREB2	CP	SLC25A21	TRNT1	TKFC	HBA2	KARS1	ACVRL1	SLC35C1	ABCB7	PSMB8	SLC29A3	TMPRSS6	HBG1	CARD10	FECH	IRX5	ATRX	SLC25A10	GDF2	HSCB	HBA1	SLC37A4	DNAJC19	FARSA	CAT	ENG	SMPD1	WAS	WIPF1	AGGF1	RIPK1	TEK	SHPK	SMAD4	PSTPIP1	C2orf69	PUS1	FDX2
HP_MICROANGIOPATHIC_HEMOLYTIC_ANEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROANGIOPATHIC_HEMOLYTIC_ANEMIA	CFHR1	CD46	IRAK1	C3	CFH	HELLPAR	SPP1	CFB	CFI	THBD	STAT4	CFHR3	ADAMTS13
HP_METABOLIC_ACIDOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METABOLIC_ACIDOSIS	EPG5	PNPO	HSD17B10	CAD	AGXT	PDHX	MRPL3	NDUFAF4	VPS33B	COX14	AUH	SLC25A3	GK	FBXL4	WNK4	FAH	COX6B1	MCEE	SLC34A1	IVD	OGDH	KYNU	CTNS	FBP1	SCO2	SLC37A4	SURF1	COA8	LCT	PC	SLC4A4	MMACHC	PET100	HNF1B	SCO1	ACAT1	BCS1L	NDUFS7	TTC26	PRDX1	GATA3	C1QBP	STX3	INVS	NDUFAF6	SCNN1A	FH	PCCB	ALDOB	CUL3	GSS	SLC52A1	HIBCH	SCNN1G	NDUFB10	CPT1A	ACADS	PHKB	DLD	RYR1	SLC4A1	KCNJ5	DEF6	CLCNKB	ACADVL	ATP6V0A4	NFS1	LRPPRC	WNK1	MCCC2	UQCRB	HMGCL	NDUFA9	HPD	GLYCTK	PHKG2	MT-TN	NADK2	MRPS28	NDUFV1	DPYS	NR3C2	CLDN16	CA2	PPA2	NEUROG3	GFM1	PLPBP	SLC12A3	SLC5A1	KLHL3	BTD	SLC25A19	NOTCH2	GALT	HLCS	PLVAP	PCCA	FN1	MMAA	VIPAS39	EHHADH	TAOK1	MRPS22	GCDH	MCCC1	SLC2A2	COA6	CA5A	IBA57	OCRL	MMAB	ATP6V1B1	NDUFAF8	CACNA1S	TANGO2	NDUFAF1	MMUT	ACADM	SCNN1B	RMND1	UQCC2	PHKA2	NDUFS2	NDUFB8	COQ2	MYO5B	TUFM	JAG1	COX10	NDUFA6	ALDH6A1	HNF4A	UQCRC2	NDUFB11	POLG2	CPT2	NDUFAF3	PDSS2	MTO1	MLYCD	PIGA	GATM	NDUFA2
HP_DEHYDRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEHYDRATION	TGFB1	PIK3R1	VPS33B	EPCAM	FCGR2A	CDKN2B	SLC12A1	PDX1	ABCA12	HYMAI	STAT3	NR0B1	INS	MCEE	SLC34A1	CD79A	CTNS	AK2	AQP2	LAMA3	LCT	BLNK	TCF3	ACAT1	CDKN1A	UNC45A	CYP11B2	SLC5A2	ACAD8	CYP24A1	SCNN1A	GCK	PCCB	KCNJ1	AVPR2	HSD3B2	CDKN1B	ALOXE3	EGFR	SCNN1G	EIF2AK3	CLCNKB	SDR9C7	ACSF3	PLAGL1	KCNJ11	ATP6V0A4	CYP11A1	CFTR	MRPS28	SPINK5	ABCC8	NR3C2	NIPAL4	SLC5A1	NEUROG3	LRRC8A	IGHM	STX3	ATP1A2	NLRP3	IVD	PCCA	MMUT	MEN1	MMAA	EHHADH	LAMC2	PKHD1	ALOX12B	CYP4F22	ATP1A3	OCRL	SULT2B1	MMAB	CA12	LAMB3	DBH	CACNA1A	SLC1A3	BSND	MMACHC	LIPN	TGM1	SCNN1B	SLC26A3	MYO5B	NDUFAF6	ZFP57	CDKN2C	IGLL1	HMGCL	CD79B	CLCNKA	GATM
HP_FEVER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEVER	IFNGR1	NPHS1	IL12A-AS1	IL7R	IL12A	REL	PRNP	RAG2	LPIN2	NLRP3	MT-ND3	HBB	G6PD	CTLA4	AK2	PTPN3	CYP21A2	TCF3	TCF4	PSMB10	ACAT1	ELANE	HLA-B	CPT2	ATM	RAG1	LIFR	WT1	PTPN22	ERAP1	MT-TH	SPP1	PAX2	CD3D	ATP13A2	TRAF3	MTHFR	MT-CO1	SLC29A3	NABP1	DIS3L2	NLRC4	MT-ND1	DEF6	RIPK1	PRF1	NTRK1	MLX	SPTA1	RNASEH2C	STAT4	BCR	IFIH1	SH3KBP1	KIF1B	MVK	TRIM28	EDA	LRRC8A	IGHM	UNC93B1	CALR	STX11	MT-TF	GALC	NFKBIL1	TRNT1	IBA57	HLA-DPA1	SPTBN1	CHEK2	LAMB3	SRP54	NUP37	JAK2	ATP1A2	BIRC3	IL6	MIF	TH	MT-CO2	TSPOAP1	PLCE1	MEFV	MT-TL1	SCNN1B	IGLL1	MT-TW	CIITA	HMGCL	TLR3	STIM1	UBA1	NCF4	GATA2	MYD88	NUP160	SCNN1G	BCL6	GAPVD1	EIF2B1	LACC1	EIF2B4	BCOR	SLC12A1	CD2AP	BCL2	SLC41A1	ADAR	REST	H19	LIPA	TLR4	XIAP	PRKAR1A	HLA-DRB1	EMP2	HAVCR2	MAGI2	GYPC	PTS	SLC4A1	EIF2B5	TET2	TNFRSF1A	PTPN2	PML	KRT18	POMP	KCNJ1	ERCC5	POU6F2	MT-TK	RYR1	SPINK1	TRIP13	GCH1	PMM2	IL12B	MCM10	SPTB	STAT6	BRCA1	NLRP1	SLC5A1	CYBC1	BRCA2	DST	IFNG	NLRP12	ABL1	CRLF1	ELP1	C4A	SRSF2	PRTN3	LYST	CR2	ANKRD55	IL2RA	CACNA1S	UNC13D	AVPR2	MT-ND6	HLA-DPB1	BTK	IL2RG	ZNFX1	NPM1	FIP1L1	ANK1	ARHGAP24	PEX6	IL2RB	IL23R	HNRNPK	LIG4	GLA	F5	MT-ND4	RNASEH2A	ADA2	COG6	C2orf69	ADAMTS13	CASK	AVP	TNFAIP3	MPL	STING1	TBC1D8B	GFI1	ABCC2	IRF4	STAT3	CFTR	ASAH1	CD79A	QDPR	TICAM1	COL1A1	LBR	ABCC6	CFHR1	MT-CYB	SLC19A3	BTNL2	LAMA3	PSAP	BLNK	PSMB8	NUP85	PSTPIP1	IRF8	STAT5B	FBP1	RAB27A	TSC1	FOXP1	PSMG2	CYBB	NUP107	EIF2AK3	IL10	BACH2	TP53	NCF2	MYO1E	CD247	WAS	IRAK1	COL4A3	ALPL	KRT8	MT-CO3	UBAC2	ZNF699	EIF2B2	CD27	RNASEH2B	XPA	KLHL7	HTR1A	CD3E	VANGL2	LAMC2	FCGR3B	PTPRO	PSMB4	CD70	NKX2-1	TSC2	P4HA2	SLC34A2	CD244	CCR1	CYP11B2	TMEM165	PKHD1	CRB2	ADA	ANLN	ERCC4	SLC12A3	NAB2	CTRC	XPC	CFH	ZBTB16	TCIRG1	CD79B	CCND1	SAMHD1	PIK3R1	CACNA1A	NCF1	ITK	CYBA	HMBS	EPB42	PRSS1	DCLRE1C	DDB2	IKZF1	RARA	STXBP2	NUP133	ATP1A3	RANBP2	AQP2	SEMA4D	MT-TS2	RB1	SCNN1A	PMP22	STAT2	ALDOA	NUP93	ASXL1	PSMB9	GPC3	OTULIN	CHD7	ORAI1	LPIN1	WIPF1	RNF168	MT-ND5	MT-TV	NGF	ENPP1	MT-ATP6	CFHR3	SYK	P4HTM	NGLY1	NPHS2	COQ8B	NUMA1	MT-ND2	SCYL1	NOD2	PRKCD	SLC22A4	BCAP31	GPR35	HEPHL1	APOL1	ERCC3	MST1	SLC11A1	TBL1XR1	ZFHX2	IL36RN	SLC35C1	GAA	NUP205	KLRC4	POLR3A	ACTN4	IRF2BP2	TREX1	WDR1	SH2B3	ARHGDIA	TRPC6	ERCC2	EIF2B3	ANKFY1	PRSS2	RUNX1	INF2	TBK1	FAS	BCL10	RMRP	MT-TQ	COG7	EPB41	KIT	MALT1
HP_KETOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KETOSIS	HYMAI	ABCC8	MRPL3	SLC12A3	ACADM	BTD	PAX4	DBT	INSR	POLR3K	PPP1R15B	IVD	GK	PTPN22	MMAA	RRM2B	COX6B1	GCDH	OXCT1	FBP1	SLC37A4	CA5A	TRMT10A	BCKDHA	KARS1	MMAB	ACAT1	PHKA2	CYC1	MMUT	PHKG2	SLC5A2	ITPR3	SLC25A4	GYS2	ACSF3	TWNK	POLG2	BCKDHB	GHSR	EIF2AK3	PYGL	IL6	INS	ATP5F1D	KCNJ11	SHOX	HNF4A	HNF1A	ZFP57	CLCNKB	POLG	SUGCT	MCCC2	SLC16A1	MLYCD	PLAGL1
HP_RENAL_TUBULAR_ACIDOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_TUBULAR_ACIDOSIS	EPG5	CAD	CLDN16	CA2	SLC12A3	VPS33B	NOTCH2	CPT1A	FN1	FBXL4	VIPAS39	FAH	EHHADH	TAOK1	SLC4A1	SLC34A1	KYNU	CTNS	SLC2A2	SCO2	SURF1	OCRL	COA8	ATP6V1B1	PC	SLC4A4	HNF1B	BCS1L	RMND1	GATA3	UQCC2	PHKA2	NDUFS2	NDUFB8	COQ2	ALDOB	JAG1	PHKB	NDUFAF6	HNF4A	NDUFAF3	CLCNKB	PDSS2	ATP6V0A4	PIGA	PHKG2	MT-TN	NADK2	GATM
HP_ALKALOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALKALOSIS	CYP17A1	HSD11B2	SLC26A3	SARS2	SLC12A3	SCNN1B	ASL	KCNJ5	KCNJ1	BSND	SLC12A1	OTC	CACNA1D	SCNN1G	CLCNKB	NR3C1	IKZF1	SCNN1A	ASS1	CA5A	CLCNKA	KCNJ10	USP8	CPS1	NARS2	AIP	HLA-B	CLCN2	SLC25A15
HP_HYPOKALEMIC_ALKALOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOKALEMIC_ALKALOSIS	CLCNKB	CYP17A1	IKZF1	HSD11B2	SLC12A3	SCNN1B	CLCNKA	KCNJ1	BSND	SLC12A1	HLA-B	KCNJ10
HP_RESPIRATORY_ALKALOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESPIRATORY_ALKALOSIS	OTC	CPS1	ASS1	CA5A	ASL	SLC25A15
HP_GLUCOSE_INTOLERANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLUCOSE_INTOLERANCE	TP53	YIPF5	PROM1	DKC1	KLF11	PAX4	PDX1	OPA1	MT-TE	HMGA1	CCDC28B	DLK1	NDN	STUB1	GATA6	DNM1L	LEPR	KIZ	HBB	INS	GATA3	NDUFV1	MT-ND5	FXN	GTF2I	NEK2	SNRPN	CP	NCF1	PDE8B	MT-ND3	DCAF17	NEUROD1	EIF4H	TCF4	SLC2A2	ZMPSTE24	WFS1	HNF1B	AIP	IGKC	IMPG1	GCK	TWNK	MT-TH	NODAL	NDUFS6	XRCC4	CTC1	USP8	MTHFR	MT-CO1	SLC29A3	NDUFAF1	POMGNT1	LRP6	STAT1	PROK2	MT-ND1	LRAT	CLCNKB	POLG	HESX1	SLC7A14	NDUFAF3	RNASEH2C	PCARE	NDUFS1	KDSR	PLAGL1	IFIH1	REEP6	CAVIN1	PNPLA6	HYMAI	SLC5A1	HGSNAT	CAV1	MEG3	CDH23	NDUFS8	CTNNB1	LEP	ABCA4	BCL7B	MT-TF	PTF1A	FGFR1	PTCH1	NDP	IL2RA	PRSS1	NOTCH3	NDUFS2	MT-ND6	AMACR	HNF4A	ALMS1	MKRN3	SIX3	RTEL1	NDUFB10	SPATA7	CDON	PRKACA	ITPR3	SLC25A4	POLD1	HNF1A	MAGEL2	KCNJ11	ARMC5	MT-CO2	RTL1	POLG2	SLC19A2	BLK	CTRC	CRX	APOA5	SBDS	KCTD1	AKT2	PROKR2	WT1	ESR1	MT-TL1	DNAJC21	LIPC	TIMMDC1	TCF7L2	METTL27	SPINK1	NPAP1	BBS2	ARL6	PTRH2	ZFYVE26	CPA1	DISP1	APOE	LRBA	OCA2	GUCA1B	CNGB1	AIRE	ARNT2	IRS2	CERKL	LIPE	RP1L1	CISD2	LMF1	RETN	ZNF408	ADAR	LEMD3	COL2A1	NDUFAF4	CA4	ELN	USB1	MT-TC	RFC2	RABL3	PDE6G	APPL1	LIG4	MAPK8IP1	CORIN	PNPLA2	PLIN1	FBN1	ZIC2	NDUFS7	FKBP6	GLRX5	SMPD4	IMPG2	NSD1	RGR	FLT1	AGBL5	SRP54	CDHR1	TGIF1	EDA	HFE	GLIS3	PIK3R1	FOXP1	PDE4D	PLCD1	SCAPER	CAT	POLA1	IGHG2	BLM	DMXL2	ITCH	FOXH1	BUD23	TERC	PEX10	LMNA	OFD1	PRCD	EYS	DNAJC30	MT-CYB	FOXP3	NKX2-5	PRPF8	ABCB4	PRKAR1A	CNBP	BMP2	ARHGEF18	TTC7A	VPS37D	POC1A	IGF2BP2	TUB	DHDDS	ARL2BP	BRCA2	IGF1R	PPARG	HAMP	IFT172	PDE6B	EIF2AK3	SNORD115-1	FUZ	PAX6	GLI2	NSMCE2	IARS1	BSCL2	DNAJC3	SHH	MTNR1B	TERT	IRS1	CFAP418	MT-TK	MT-ATP6	SEMA4A	MT-ND4	RNASEH2A	SNORD116-1	ADA2	CELA2A	MKKS	AEBP1	CEL	PRPF31	CIDEC	IL18BP	TTPA	MT-TW	EFL1	NDUFB3	GAS1	MLXIPL	NDUFA1	HLA-DRB1	NDUFB9	USH2A	NDUFAF5	PRPF3	STAT3	ABCC8	CPE	INSR	RRM2B	GCGR	TKT	CNOT1	IFT140	MT-TV	FOXRED1	NR2E3	SLC40A1	RP2	LIMK1	RP1	UBR1	PSMB8	HMGA2	IMPDH1	PSTPIP1	IER3IP1	HJV	BRCA1	AR	WRN	AHR	NDUFAF2	NDUFAF8	BBS1	MT-ND2	PALB2	IFT88	IDH3B	SARS2	FAM161A	NEUROG3	VANGL1	RNASEH2B	HLA-DQA1	SLC12A3	VANGL2	PDE6A	PPP1R15B	NPM1	SMAD4	AGPAT2	KLHL7	FCGR3B	DHX38	GJB3	IL6	RAC1	PRSS2	PPP1R3A	STOX1	LMNB2	ROM1	SOX3	MT-CO3	MIA3	RPE65	RDH12	PALLD	PRPF6	TMEM126B	SUFU	NRL	SLC37A4	PTPN1	IDH3A	GNAS	ZFP57	CASR	TBL2	GPD2	NHP2	PWAR1	PARN	TOPORS	SNRNP200	ALAS2	SAMHD1	FGF8	SOX2	NDUFS3	PTPN22	PCBD1	NDUFB11	TMEM270	FOXC2	CFTR	SIM1	SEMA4D	MT-TS2	TDGF1	NDUFS4	RBP3	MAFA	ZBTB20	PRPH2	SAG	STX1A	MC4R	MAK	CDKN2A	KIAA1549	BAZ1B	ATM	RPGR	ARL3	RHO	FMR1	LHX1	BEST1	EIF2S3	CNGA1	MERTK	ELMO2	GPR101	GJA1	MEN1	GTF2IRD2	PDE11A	FOS	MTX2	ZNF513	NOP10	HERC2	RP9	SLC30A8	GPR35	BRAF	FSCN2	GJB4	TTC8	MST1	TRMT10A	NDUFA11	PWRN1	MMP2	CLRN1	HLA-DQB1	CTNS	POLR3A	PEX6	OTX2	NDUFV2	NDUFA6	TULP1	CARS1	ENPP1	TINF2	WRAP53	PRPF4	MMP14	PEX1	DLL1	MT-TQ	CYP19A1	CRB1	MOG	CEP19	RLBP1	KRAS	PCNT	CLIP2	GTF2IRD1	TREX1	EDA2R	NUBPL	AHI1
HP_DIABETIC_KETOACIDOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIABETIC_KETOACIDOSIS	INSR	HYMAI	ABCC8	SLC12A3	PLAGL1	ZFP57	INS	KCNJ11	CLCNKB
HP_RECURRENT_FEVER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_FEVER	SH3KBP1	NLRP1	LIFR	TNFAIP3	MVK	STING1	REL	LACC1	ITK	NLRP3	MEFV	SLC41A1	NLRP12	PRKCD	CRLF1	BCAP31	ELP1	HBB	STX11	ASAH1	QDPR	STXBP2	HEPHL1	XIAP	TRNT1	IBA57	TNFRSF1A	SPTBN1	NOD2	CYP21A2	ZFHX2	SLC35C1	PTS	PSMB8	ELANE	PMP22	STAT2	PSMB4	NLRC4	SLC29A3	CD70	NTRK1	PSMB9	IL2RG	ZNFX1	OTULIN	CYP11B2	LPIN2	WDR1	PSMG2	PEX6	GALC	ORAI1	HNRNPK	SLC12A3	RNF168	DEF6	RIPK1	ADA2	PRF1	STIM1	UBA1	GCH1	COG6	NGF	COG7	C2orf69	SYK
HP_UNEXPLAINED_FEVERS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNEXPLAINED_FEVERS	NKX2-1	GALC	RNASEH2B	AQP2	RNASEH2A	TMEM165	LAMA3	PSAP	LAMB3	TREX1	NTRK1	RNASEH2C	ADAR	AVPR2	IFIH1	LAMC2	SAMHD1
HP_TRUNCAL_OBESITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRUNCAL_OBESITY	ALMS1	HDAC8	RTL1	WAC	INPP5E	ADNP	RAD21	CCDC28B	MEG3	CDH23	THOC2	XRCC4	ARL6	PDE11A	NIPBL	SLC10A7	VPS13B	IGF1R	BPTF	XYLT1	PHF6	IGFALS	TRAPPC9	SLC7A7	MAN1B1	EP300	ZBTB20	BRD4	MC4R	RNPC3	PSMD12	PCSK1	AKT2	BBS9	PRKAR1A	GNAS	FMR1	POMC	DYRK1B	USP8	LAS1L	DLK1	PCNT	CREBBP	IGF1	GHR	BBS1	SMC1A	SMC3
HP_NONKETOTIC_HYPOGLYCEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NONKETOTIC_HYPOGLYCEMIA	HMGCL	CPT2	ACADVL	AKT2	WNT9B	ACAD9	GREB1L	ITGA8	YY1	MEN1	RET	FGF20
HP_HYPOKALEMIC_METABOLIC_ALKALOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOKALEMIC_METABOLIC_ALKALOSIS	CLCNKB	IKZF1	HSD11B2	CLCNKA	KCNJ1	BSND	SLC12A1	HLA-B	KCNJ10
HP_HYPOPLASTIC_HEART	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_HEART	FLI1	PAH	NKX2-5	DVL3	GJA1	CCDC22	B3GLCT	TBX1	PKD1L1	NR2F2	SPOP	COQ4	ARHGAP31	MYRF	GNB2	TBX5	DTNA	ZNF148	WT1	CHRNG	STAG2	KYNU	CHRNA1	MCTP2	MKKS	WASHC5	NADSYN1	TMEM218	FOXF1	SMAD6	NOTCH1	GATA5	CDK8	GATA4	HAAO	CHRND	TRAF7
HP_PALPITATIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALPITATIONS	NF1	TP53	CACNA1S	GABRA3	RET	YY1	PRKAG2	KCNJ11	TBX20	RRM2B	GCGR	SLC4A3	NPPA	SDHAF2	JUP	PKP2	SLC25A11	VHL	ABCC8	KCNJ2	NKX2-5	CACNA2D1	KCNQ1	CDH23	UCP2	TWNK	GYG1	ATRX	PNPLA2	DNMT3A	SDHB	CITED2	KCNJ18	DLST	MEN1	SDHC	CLCNKB	POLG	SDHD	MYH6	ACTC1	TMEM43	CNBP	SLC12A3	KCNE2	KCNA5	JPH2	SCN5A	GATA6	DSG2	HNF1A	KCNJ5	KCNH2	MYL4	CAV3	MYL3	MAX	FH	SCN9A	MDH2	SLC25A4	GATA4	TECRL	MYL2	KCND3	POLG2	KIF1B	SDHA	BVES	TLL1	CDH2	DAXX	TMEM127	ISCU	EPAS1	DSC2
HP_APLASIA_HYPOPLASIA_OF_METATARSAL_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_METATARSAL_BONES	FLNB	CANT1	GNAS	HOXD13	PTHLH	SIL1	SRY	DCHS1	LZTFL1	PIK3CD	VPS35L	PHYH	SMARCA2	POC1A	COL2A1	VPS13B	FIG4	COG4	LMBR1	TRPS1	SALL1	HOXA13	HEPHL1	NPR2	FGFR1	TCF4	WNT7A	PIGS	RIPK4	DYM	CHSY1	FBN1	PRKAR1A	FLNA	GDF5	EZH2	ZNF407	MAP3K7	RAB33B	RBPJ	PDE4D	PRMT7	FGFR2	SLC26A2	B3GLCT	TWIST1	RSPRY1	HDAC4	KNSTRN	PORCN	BMPR1B	TRPV4	PEX7	TP63	IFT52	FAT4	HINT1	PRKG2	KCNJ2
HP_ABNORMAL_SCALP_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SCALP_MORPHOLOGY	RERE	RTEL1	GATA1	SRCAP	BRAF	RRAS	DPM2	ITGB6	ABCC9	DOCK7	RIT1	ACTB	HSPG2	EBP	DOCK6	CDH2	SOS1	PEX19	HDAC4	NELFA	POLR1C	RPL18	LAMC2	ERCC3	HLA-DRA	TCF12	INTU	MPLKIP	LAMB3	MAB21L1	LRP2	ODC1	LETM1	TECPR2	TWIST1	GDF6	SMARCA4	USP8	PACS1	SLC29A3	GTF2E2	ARX	TSC1	SALL4	NHP2	MYO18B	CDH3	FRAS1	TERT	THOC6	SMC3	CHST3	MID1	CAVIN1	SLC25A24	LRPPRC	SMC1A	NOP10	B4GALT7	SMARCB1	CDH23	EFNB1	AEBP1	GJB6	MEOX1	CPLX1	MRAS	POLR1D	PHF8	SLC35C1	ARID1A	MYH3	HPGD	CLCN3	GJB2	RPL27	BRCA1	KNSTRN	PIK3C2A	KREMEN1	RPL35A	MBTPS2	RPS10	RPS26	ITGB4	NIPBL	NEPRO	SOX11	UROS	MED25	TARS1	ARID1B	RPS15A	HYOU1	SMARCE1	FLI1	ALX3	MEIS2	KCTD1	JUP	RAB3GAP1	SLCO2A1	RNU4ATAC	KCNN3	NSD2	CREBBP	RAB3GAP2	TMCO1	TBL1XR1	FIG4	ATP6V1B2	ANKRD17	CENPJ	SPEN	FGD1	RPL15	ZIC1	KAT6B	RAD21	PRKD1	LSS	FAS	ASXL1	WNT10A	EGFR	MAN2B1	KRAS	LIG4	SYT1	LAMA3	SLC27A4	BICRA	SPRED2	BRD4	CDH1	SMPD4	IRX5	RAB18	NSD1	KRT17	SMARCC2	SMARCD1	XYLT2	GDF3	VPS13B	CTBP1	TBC1D20	RPL21	TCOF1	ADARB1	SPINK5	SPATA5L1	SLC39A4	TP63	MADD	GNE	RPS24	UROD	SMARCA2	TTC7A	SPOP	MAF	PPP1CB	ADAM17	ADA2	PIK3CD	IGF1R	RPS19	CDSN	EMC1	HR	DSG4	COG5	WNT4	FRMD4A	PEPD	POLR1B	NTRK1	CHRNG	EP300	PGAP1	LMX1B	BSCL2	SETD5	SATB1	UBE2A	IFIH1	MSX2	WBP11	TBX2	TRPS1	SVBP	NFIX	EDARADD	PIGK	PTPN11	NOTCH3	APC	PLEC	PIGG	GDF11	SRY	HDAC8	KDM4B	ATR	ARID2	RIPK4	XRCC4	NOVA2	NRAS	TBC1D24	RAF1	SPECC1L	CEP152	SPRED1	ACTG1	FGFR2	KANK2	TFAP2A	RPS17	RPS7	VAC14	LPAR6	INSR	ALG12	RPS28	VPS51	ALDOA	UGP2	NF1	RPL35	DLX4	KCNH1	ANTXR1	LZTR1	WRN	RIN2	RPL5	PPARG	CBS	NOTCH2	EDEM3	SH2B1	HUWE1	VPS33A	SLC12A6	TAF6	RPS27	ECM1	ZNF699	CENPE	ADNP	RALGAPA1	SOX4	SETD2	PPP1R15B	SHOC2	TBX15	RPS20	AGPAT2	NANS	B3GALT6	KLHL24	OCRL	NBN	PTPN22	POLR3A	EXT1	SOX18	MAP3K7	GTF2H5	MGAT2	NSUN2	GNB2	COL3A1	UBR1	STAG2	ACD	SOS2	PTDSS1	SLC9A7	MAPK1	ERCC2	KRT74	RBBP8	MAFB	CHN1	KRT14	RASA2	APC2	DSC3	CPOX	ALX1	FGFRL1	FGFR3	CLDN1	CCNK	AHSG	NUP85	MAP2K1	NECTIN4	ANKRD11	RECQL4	AIFM1	DPF2	KDM1A	APCDD1	ATRIP	CAV1	B3GAT3	CNOT3	ZBTB20	CCDC22	TWIST2	MMP1	RNF113A	RPL11	HS2ST1	COL7A1	RRAS2	ERMARD	PLK4	RPL26	ITGA3	SIN3A	PCNT	HTRA1	GJA1	FOS	PCGF2	MED13L	PARN	RHOA	DKC1	KCNJ8	DPH1	LIPH	BANF1	TRMT10A	KRT25	LMNA	COL17A1	MAP2K2	IPO8	TINF2	ZC4H2	PEX6	RPL31	TRAIP	EPS8L3	ALX4	RPS29	PEX1	TSR2	COG7	EIF5A	SNRPE	ALG9	KIFBP	CBL	WASHC5	AXIN2	IGF1	CWC27
HP_ABNORMAL_GLOMERULAR_MESANGIUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GLOMERULAR_MESANGIUM_MORPHOLOGY	NPHS1	NPHS2	GAPVD1	CD81	COQ8B	YRDC	FN1	TBC1D8B	ARHGDIA	CD2AP	WT1	SGPL1	SPRY2	APOE	WDR73	NUP107	APOL1	NUP133	COPA	OSGEP	EMP2	AVIL	PTPRO	MAGI2	NUP37	GON7	NUP205	ADA	NUP93	NUP85	ACTN4	PLCE1	KIRREL1	TP53RK	PAX2	COQ6	ARHGAP24	CRB2	TRPC6	ANLN	ANKFY1	MYO1E	LAMB2	COL4A3	INF2	NUP160
HP_TUBULOINTERSTITIAL_NEPHRITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TUBULOINTERSTITIAL_NEPHRITIS	IFT122	ALMS1	FAN1	INVS	MRPL3	SLC12A3	PUS3	SLC30A9	COQ2	DPH1	FOXC2	SLC7A7	WDR19	CPT2	TRAF3IP1	BCS1L	MUC1	BTNL2	CLCNKB	HLA-DRB1	PDSS2	CEP83	FOXP3	MMUT
HP_HYPERSPLENISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERSPLENISM	FASLG	SCARB2	RUNX1	FAS	SRSF2	CBL	PSAP	SMPD1	PRKCD	HBB	CASP10	GBA	LIPA	ITCH	NOTCH1	TET2	RASGRP1	ASXL1	MED12	DZIP1L	PKHD1
HP_MACROCYTIC_ANEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACROCYTIC_ANEMIA	EFL1	MTR	RPL15	ALAS2	HLA-DQA1	OPA1	RPS24	DHFR	MTRR	SLC19A1	RPS7	GATA1	RHAG	SLC46A1	AMN	RPL5	RHD	DNM1L	SLC4A1	RPS20	RMRP	RHCE	ADA2	RPS17	RPS14	LMBRD1	RPS19	RPS28	RPL27	MMADHC	MMACHC	RPL35A	RPS26	RPS10	PIEZO1	RPL18	UMPS	MTHFD1	HLA-DQB1	PHGDH	RPL31	PRDX1	KCNN4	TSR2	SLC19A2	RPS15A	SRP54	RPL35	RPS29	RPL11	SFXN4	FTCD	SBDS	RAC2	TET2	CUBN	HPRT1	DNAJC21	COX10	CDAN1	LARS1	WFS1	UBA1	RPL26	CBLIF	RPS27	TCN2
HP_AUTOIMMUNE_THROMBOCYTOPENIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AUTOIMMUNE_THROMBOCYTOPENIA	FASLG	CD81	CIITA	FAS	ITK	NFKB1	TPP2	SMPD1	CD19	PRKCD	TNFRSF13C	FOXP3	NFKB2	LAT	STAT3	RASGRP1	PNP	ACP5	MAGT1	IL7R	TNFRSF13B	KDM6A	KRAS	ARHGEF1	CTLA4	ADA	SOCS1	KMT2D	ZAP70	CASP10	MS4A1	STAT1	CR2	RFX5	RFXANK	GALC	ICOS	TNFSF12	NRAS	RFXAP	LRBA
HP_LEUKOCYTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEUKOCYTOSIS	IKBKG	IFNGR1	FASLG	RAG1	RUNX1	TGFB1	IL7R	CARD9	WAS	MVK	REL	BCOR	CARD11	TBX21	GFI1	HBB	RAG2	IL37	SALL4	SPINK1	LPIN2	EXTL3	XRCC4	MEFV	STAT3	PRKCD	DCLRE1C	SLC46A1	FOXP3	IL6ST	G6PD	FAS	IL2RG	RARA	TICAM1	ZNF341	RASGRP1	BTNL2	LIG4	NLRP3	KRAS	ACAT1	DOCK8	STAT2	TET2	TNFRSF1A	PGM3	PML	FERMT3	JAK2	ASXL1	CASP10	STAT5B	OTULIN	CALR	SRSF2	CHD7	TRAC	ARPC1B	RAC2	NCKAP1L	CD3D	EIF2AK3	XIAP	TRAF3	USP8	PIK3CD	MICU1	NABP1	CD247	NRAS	ITGB2	MPL	BCR	SH2D1A	RNU4ATAC	PDGFRB	SPINK5	BCL11B	NLRP1	NUMA1	LACC1	CBL	CD3E	ANKRD26	PRKAR1A	CDH23	UNC93B1	IFNG	NLRP12	ABL1	SREBF1	CFTR	CTRC	PRSS1	PRSS2	SLC27A4	JAK1	SF3B1	ELANE	TBL1XR1	GATA2	IL36RN	SRP54	SLC35C1	RNASEH2B	ADA	IPO8	CAPN3	IRF2BP2	ZAP70	NPM1	FIP1L1	PKHD1	PDGFRA	CASR	LMNB2	TBK1	ADA2	HLA-DRB1	HMGCL	TLR3	RBM8A	RMRP	CPA1	ZBTB16	TCIRG1	ZPR1	CASK	KIT
HP_REDUCED_ANTITHROMBIN_III_ACTIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_ANTITHROMBIN_III_ACTIVITY	MPI	SERPINC1	ALG6	SRD5A3	DPM1	DPAGT1	PMM2	AHCY	MGAT2	SLC37A4	ALG8	DPM2	PGM1	B4GALT1
HP_ABNORMAL_THROMBOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_THROMBOSIS	PTPN22	FLNC	IL12A-AS1	CALR	SERPINC1	PROC	MPL	IL12A	MYPN	BCOR	CFH	MTRR	JAK2	SPINK1	TNNT2	MET	PRSS1	STAT3	SLC4A1	HLA-B	HBB	MPI	RARA	TLR4	MT-CYB	FGA	CTLA4	PRKAR1A	SH2B3	CFTR	TET2	NPPA	IL10	CD55	MMACHC	PIEZO1	MYH9	GNAQ	IDH1	PROS1	NLRC4	CD46	MTHFR	PML	PRDX1	KCNN4	PIGM	ERAP1	STAT5B	GDF2	HELLPAR	SLC2A10	THPO	FCGR2C	CFI	SERPIND1	NABP1	ADA2	KIF20A	RASA1	CBS	HRG	MT-CO3	NFS1	PDE4D	PMM2	STAT4	ALG6	UBAC2	SMAD4	THBD	F9	HLA-DRB1	TTR	TNNI3	NUMA1	SAA1	IFNGR1	MEFV	BMPR2	PTH1R	SCN5A	FGB	PGM1	C4A	CTRC	PRTN3	VHL	LIPA	LPIN1	PRSS2	F12	HLA-DPA1	TP53	RYR1	TBL1XR1	MYH7	PTEN	MT-CO1	ACVRL1	TGFB2	F13A1	KIF11	HLA-DPB1	KLRC4	IRF2BP2	F5	P4HA2	CTNNB1	CITED2	CCR1	FGG	NPM1	PLAT	FIP1L1	PDGFRA	IDH2	KCNQ1	IL23R	HABP2	RHAG	ENG	EPAS1	CASR	NOTCH1	EPOR	AGGF1	F2	AKT1	FAS	UBA1	RFT1	TLL1	CPA1	ZBTB16	PIGA
HP_EXTRAMEDULLARY_HEMATOPOIESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXTRAMEDULLARY_HEMATOPOIESIS	AKR1D1	FGFR2	FERMT3	RBM10	TNFSF11	VPS45	JAK2	CALR	OSTM1	LBR	ANK1	EPB42	MPL	TET2	SLC4A1	HBB	SPTB	SPTA1	CA2
HP_SCHISTOCYTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCHISTOCYTOSIS	CAD	CFHR1	KCNN4	CFH	TRNT1	SC5D	PIEZO1	SLC4A1	CFHR3	ADAMTS13	SLC19A1
HP_SEA_BLUE_HISTIOCYTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEA_BLUE_HISTIOCYTOSIS	NPC1	GLB1	SMPD1	NPC2	APOE
HP_HYPOKETOTIC_HYPOGLYCEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOKETOTIC_HYPOGLYCEMIA	DOLK	HADH	HNF4A	HADHB	UCP2	GCK	CPT2	HADHA	ACADVL	AKT2	KCNJ11	ABCC8	SLC25A20	CPT1A	HNF1A
HP_HYPERTONIC_DEHYDRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTONIC_DEHYDRATION	AVPR2	AQP2	SLC5A1	CA12	SPINK5
HP_HYPERAMMONEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERAMMONEMIA	CAD	AASS	TMEM70	ARG1	RINT1	MRM2	SLC22A5	GLUD1	SLC25A13	MMUT	HSD17B10	ACADM	HADHB	SLC25A42	BTD	ASL	PCCA	HLCS	DLD	MMAA	GLUL	COX6B1	ACADVL	NR1H4	MCCC1	NAGS	PDHB	CA5A	MMAB	CPT2	TANGO2	MMACHC	HADHA	ACAT1	CYC1	MECP2	MCCC2	SLC25A15	SLC7A7	SLC25A20	PCCB	NBAS	OTC	TUFM	CPT1A	EIF2AK3	NDUFA6	ATP5F1D	ACAD9	ASS1	CPS1	MARS1	UQCRC2	GOT2	ATPAF2	HMGCL	SERAC1	HADH
HP_RECURRENT_HYPOGLYCEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_HYPOGLYCEMIA	STAT6	INSR	NAB2	KCNJ11	ALG12	SLC22A5	YY1	UCP2	GCK	HMGCL	MRAP	PPP1R15B	PAK1	MC2R	NFKB2	MEN1	PHKB
HP_FETAL_AKINESIA_SEQUENCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FETAL_AKINESIA_SEQUENCE	LGI4	ACTA1	KIF5C	DOK7	RYR1	NEB	RAPSN	MUSK	KLHL41	CHRNG	TRPV4	CHRNA1	KLHL40	NUP88	MYOD1	GBA	NEK9	PIGS	CNTNAP1	TPM3	ATP1A2	SLC18A3	MAGEL2	MYPN	DPAGT1	CNTN1	TPM2	ZC4H2	KBTBD13	CHRND	GLE1
HP_APLASIA_HYPOPLASIA_OF_TOE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_TOE	EOGT	LMNA	PIGG	SMAD4	OFD1	IL7R	NTNG2	ZMIZ1	SOX9	TRMT1	RAG2	ABCC9	KDM4B	ASAH1	FIG4	SMOC1	LMBR1	APC	ARSL	PSMD12	CHSY1	CTBP1	MED13	DOCK3	SPECC1L	C12orf57	MED27	PRKAR1A	CLCN3	NELFA	VAC14	TBX22	PUF60	ALOX12B	GNAS	RAG1	BMPR1B	LETM1	RBPJ	SALL4	HDAC4	MYCN	NSD2	HOXD13	ACTL6B	SHOX	GJA1	TNRC6B	NOTCH2	KAT6A	EMC10	RMRP	DPYSL5	GHR	NEK1	TANC2	BPNT2	PTPN23	TBX3	BHLHA9	TRIP12	GPX4	TBL1XR1	DDX6	ARHGAP31	BCAS3	CPLX1	MADD	MAPK8IP3	KCNMA1	PALS1	BMP2	NPR2	WNT7A	IHH	FBXW11	WDFY3	ACTL6A	ALMS1	BPTF	MIA3	TCF20	FLNA	NOTCH1	PDE4D	FGFR2	PIGV	DACT1	ARID1B	ADA	BCORL1	RLIM	PORCN	KCNN3	DHCR7	NOG	ALOXE3	FGFR1	CCDC32	DYRK1A	MYT1L	HS2ST1	HBA1	ANKRD17	GPC3	GPC4	SRCAP	PIGF	FGFRL1	FGFR3	SATB1	COL2A1	DCLRE1C	ASXL1	DLL4	RIPK4	IL2RG	PTHLH	SLC12A2	RAB3GAP2	KCNH1	PHF6	PTH1R	TRPV4	HTT	UBR7	KMT2E	HOXA13	MGP	GRIA4	HPDL	SLC26A2	HBA2	CHD7	DOCK6	CHST11	ADAMTS2	GDF5	LMBRD2	GRIP1	PRKG2	TCF7L2	RNU4ATAC	TNNT3	ROR2	PUS7	IFT122	FLI1	DNMT3A	SVBP	SYNCRIP	KCNJ8	AGO2	SALL1	RNF2	WASF1	NTNG1	SPTBN1	B3GLCT	SF3B4	CNOT3	DLX5	HUWE1	LIG4	KAT8	ACVR1	SETD1A	KMT2A	TRAPPC4	COX4I1	LRP4	GLI3	WNT10B	JARID2
HP_ORGANIC_ACIDURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORGANIC_ACIDURIA	HOGA1	HPD	ETHE1	AGXT	CPOX	ACADM	MVK	GATM	PCCA	ABCD4	DHTKD1	SUGCT	HMBS	ETFDH	ACAD9	HCFC1	MCEE	LMBRD1	L2HGDH	SLC25A4	POLG	MMADHC	HGD	SUCLG1	MMACHC	SCO1	SLC52A2	TCN2	MCCC2	GRHPR	SUCLA2	CPT2	UROC1	PRDX1	ACAD8	GCDH	NDUFS4	TAFAZZIN	SLC26A1	MCCC1	COX16	SLC25A20	SLC52A1	MPC1	DNAJC19	NDUFB10	ACADS	ETFB	ACSF3	HADH	PCCB	IDH1	RET	HMGCL	PEX1	NADK2	TAT	KIF1B	BTD	SLC25A19	HLCS	FLAD1	MMAA	CD320	ALAD	ACADVL	SLC25A1	OXCT1	IDH2	MMAB	MMUT	D2HGDH	UROS	GATA1	ALDH5A1	ETFA	MLYCD	PPOX
HP_KETOACIDOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KETOACIDOSIS	ITPR3	HYMAI	INSR	ABCC8	MRPL3	SLC12A3	ACSF3	BTD	PAX4	IVD	GK	PTPN22	EIF2AK3	IL6	INS	ATP5F1D	KCNJ11	SHOX	OXCT1	HNF4A	CA5A	HNF1A	ZFP57	CLCNKB	SUGCT	MCCC2	SLC16A1	ACAT1	CYC1	MMUT	PLAGL1
HP_RENAL_FANCONI_SYNDROME	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_FANCONI_SYNDROME	CTNS	HNF4A	SLC12A3	COA8	HNF1B	CLCNKB	SURF1	PIGA	MT-TN	FAH	OCRL	BCS1L
HP_HYPERCHLOREMIC_ACIDOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERCHLOREMIC_ACIDOSIS	SLC4A1	SLC34A1	NDUFAF6	NEUROG3	KLHL3	GALT	SLC4A4	CUL3	WNK1	CTNS	WNK4	EHHADH	GATM
HP_GOUT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GOUT	PRPS1	SEC61A1	UMOD	SLC12A3	SLC37A4	ANK1	EPB42	HPRT1	DNAJB11	SPTA1	PFKM	G6PC1	HNF1B	LRP6	MUC1	CLCNKB	SLC4A1	APOE	SPTB
HP_NEONATAL_HYPOGLYCEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_HYPOGLYCEMIA	APC2	CYP11A1	KLF11	MADD	DBH	NEUROD1	MTOR	SETD2	ABCC8	KDM6A	CDKN1C	WARS2	GFM2	INS	HNF1A	FBP1	KCNJ11	EBP	KCNQ1OT1	PROP1	IGF2	HNF4A	PAX4	PET100	KCNQ1	HERC1	CLPB	SLC25A20	GCK	BLK	AKT2	PRKAG2	APPL1	HSD3B2	PDX1	YARS1	H19	COX10	TBX19	HADH	NSD1	DNAJC19	GYS2	CEL
HP_ABNORMAL_FACIAL_SHAPE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FACIAL_SHAPE	KAT6A	AGRN	CTSA	PYROXD1	CACNA1I	NALCN	NCDN	RTTN	RRAS	DPM2	GPC3	CDC42	SNRPN	BCOR	HSPG2	SPRTN	CHSY1	CEP41	RAB11B	NECTIN1	MED27	HDAC4	FAM149B1	PAK1	RUNX2	TGFB1	ZMPSTE24	ERCC3	FANCF	KATNB1	ERCC4	MORC2	FANCD2	PAH	GTPBP2	FBLN5	TUBG1	WNT10A	PRMT7	SRCAP	CHRNG	MYT1L	MYCN	TECPR2	COLQ	COG2	EMC10	LMNA	LTBP1	TNNI2	CC2D1A	EHMT1	CIITA	TRIP12	TPM3	HPGD	FANCC	NAA10	NRAS	PUS3	SMARCB1	STAT3	CDH23	CENPT	SIN3B	SGCG	MAD2L2	MED13L	FANCA	SETBP1	KMT2C	CLCN3	SMARCA4	TCF12	SLC2A1	FGFR3	AP4E1	DHX37	FBXW11	SGSH	PIK3C2A	TCF20	RAI1	CHAMP1	PEX12	TMEM94	TARS1	POLA1	TONSL	SMS	ARID1B	IGF2	SEMA5A	RLIM	GATA1	ZDHHC9	KCNN3	ALDH6A1	GALNT2	GNPTAB	DYRK1A	MAGEL2	PBX1	DNMT3A	SPEN	ADAT3	KAT6B	PLAA	INSR	LEMD3	GNAS	TBX1	KCNH1	KRAS	LIG4	OFD1	MYPN	ATAD3A	ADAMTS3	OCA2	MGP	RAB39B	PEX26	PAM16	CEP104	CDH1	UBE3A	COL9A2	HPDL	SET	RUSC2	DCAF17	SMARCD1	DCPS	HIBCH	HELLS	CSGALNACT1	GDF3	PDE4D	MICU1	COL13A1	BUD23	PMM2	FANCE	FLNA	ALG6	DNAJC30	CHRND	PUS7	TLK2	FLI1	SETD1B	PLPBP	CNP	SYNCRIP	KLHL41	TWIST1	AASS	DEAF1	GUSB	PHF8	CRLF1	TAPT1	PTCH1	AGO2	EMC1	HACD1	NOG	PIK3R1	ERCC8	PDHA1	GNAI3	RAB11A	CSPP1	CLPB	PITX2	WDR81	TMEM260	TRIP13	ACTA1	SPTBN1	FGFR2	DOCK3	MAPRE2	PIGQ	NDUFB11	HNRNPK	SEPTIN9	SOX5	STX16	KAT8	GLA	KCNQ1OT1	ETFA	PEX5	IARS1	AFF4	RECQL4	AIP	CDK8	BRCA1	PYCR2	PIGK	COL1A1	KDM6B	APC	ALDH18A1	RAD21	FLNB	MKS1	CPE	KDM4B	G6PC1	BRAF	ASAH1	FIG4	KIF1A	CTBP1	CEP152	GLB1	ACTG1	COL11A2	CC2D2A	PSMD12	NAGA	TRAPPC9	ALG12	PEX7	TBC1D24	CENPE	SLC16A2	DDX3X	AMER1	TPM2	NKX2-5	ZNF148	FANCI	KNSTRN	SEMA3E	PIGL	RIN2	SCUBE3	TNRC6B	ACTG2	UFD1	SALL4	MANBA	SEC24D	PTRH2	CCBE1	BRWD3	GHR	CDKN1C	RYR1	NUP133	FGF3	ASPH	SYT2	DIS3L2	LHX4	COL3A1	PPP1R15B	FHL1	CIC	AGPAT2	COG1	GDF5	NUP107	EDNRA	SYNGAP1	OCRL	SOS1	ACTL6A	CNTN1	MSTO1	NKX2-1	CPLANE1	SMO	B9D1	HGSNAT	KLF13	NSUN2	MYL2	MAPK1	ZIC1	LONP1	HIVEP2	NEB	PIGG	SIX5	PQBP1	HS2ST1	RTL1	PEX1	RSRC1	TBC1D2B	DLL1	CPLX1	REN	NHEJ1	PEX11B	SNAP29	VAMP1	EDARADD	ANKRD11	BPTF	KCNA1	KATNIP	PGAP3	PHGDH	BIN1	TUBB	SATB2	NIPA2	PRKAG2	LRP6	KIF7	ALG13	TAF1	BAZ1B	MEG3	NEU1	SLC12A2	KCNC3	EBP	RNF168	AP4S1	ERMARD	PLK4	POLE	RMRP	MTM1	SIN3A	GPR101	UBE3B	PDE6D	KDM5B	HYLS1	GRIK2	UBE2T	HESX1	CRADD	PDHB	TAOK1	CHST14	MED12L	ARL3	C12orf57	PTEN	MOCS2	SEC31A	NFIX	ZMYM2	COL2A1	TRAIP	MAN1B1	NSD1	RFWD3	PLCB4	ERCC6	PLOD2	CCDC115	B3GLCT	FUCA1	IQSEC2	DDX11	CLIP2	GTF2IRD1	MID2	TMEM67	OTUD6B	CEP55	RAD50	KLHL15	COG7	ADAMTSL2	CWC27	PRKACB	FLCN	KANSL1	COL6A1	ABCC9	AP4B1	CDH15	GTF2I	EYA1	ERF	PEX19	ANTXR2	AHDC1	AP2M1	HCCS	GPC4	MPLKIP	SLC25A1	TAFAZZIN	FIBP	YY1	NHS	GDF6	WNT10B	BRPF1	OBSL1	TMEM216	SMAD3	PTCH2	CAVIN1	SLC25A24	PACS2	TBCK	SMC1A	NAGLU	CAMK2B	FUT8	SLC1A4	MAPK8IP3	MRAS	BUB1B	WDR4	ZMYND11	ZEB2	L1CAM	PTF1A	ARID1A	MYOD1	ASH1L	AP4M1	MYH7	HNMT	WDR26	ATP10A	MED12	NPHP1	ATRX	AUTS2	POGZ	CHD7	CEP120	FANCL	PIGN	POU1F1	NSD2	COL11A1	SLC45A1	CCDC32	TBL1XR1	CAMTA1	ATP7A	HEXB	FGD1	PIGF	CAMK2G	CCDC174	EXTL3	SPEG	IRF6	TMEM251	RPS17	USP9X	COX7B	TDP2	SIM1	STEEP1	KIAA0753	HMGA2	BMP4	KCNJ1	ATR	KCNJ2	RFX5	SELENON	PGAP2	FARSA	PAX9	ETFB	MTRFR	BLM	AP3B1	ELOVL4	DYNC1H1	NONO	RAD51C	CDK10	RFXAP	AGTR1	NR2F1	TCOF1	MRPS28	BMPR1A	PRSS12	PAPPA2	GFPT1	MYSM1	SMARCA2	AHCY	PLOD3	MAF	PIK3CD	CLTC	TRPS1	B4GALT7	ARL13B	POLR1B	RDH11	PIEZO2	CSNK2B	ARSB	PYCR1	UBE2A	RNASET2	PRKAR1A	COL25A1	AIMP1	CHRNA1	BRCA2	HOXD13	TBX2	PURA	EDA	CEP57	GRHL3	AKT1	AEBP1	NOTCH3	MLXIPL	SUFU	ARID2	ROR2	ZBTB18	ALG8	XRCC4	FKBP10	MCTP2	ZC3H14	XYLT1	GJC2	H19	VPS33A	PGM3	PUF60	PROP1	SARS1	PEX13	WRN	ARVCF	ALKBH8	IDUA	SUZ12	SNAP25	CREBBP	NOTCH2	HUWE1	SLC12A6	CDC6	MPDZ	AP1S2	TANC2	BCAP31	SOX4	LAMB2	DDX6	BCAS3	FAR1	SMARCC2	EP300	BSCL2	MBD5	PIGV	PAX1	RAC1	CUX1	KIRREL3	SP7	DHPS	MBOAT7	PAX8	TSHR	NSDHL	TMEM237	UPF3B	AGA	GTF2H5	MGAT2	B3GALT6	CRBN	GRM7	HS6ST2	DACT1	GRIN2A	TUBB4A	LAS1L	IFT57	ACER3	GINS1	CHN1	PRKACA	TRAF7	HRAS	TNIK	MVK	FGFRL1	CUL7	FBXL4	STAG1	CCDC47	MAP2K2	BRIP1	FAT4	EXOC8	PUM1	PPP2R5D	AIFM1	PEX10	INPP5E	DPF2	SOX6	LMBRD1	ATRIP	CBY1	PAX3	SETD2	RNF135	CNTNAP2	STX1A	PTPN11	CD28	GRIN2B	EEF1A2	CLCNKB	EFNB1	MEIS2	NTRK2	CTNND1	ITGA8	TMEM70	SLC9A6	PCNT	NGLY1	JMJD1C	UFC1	MAFB	BCR	GTF2IRD2	MTX2	CCDC8	PIGO	FBN1	ABCA5	LETM1	NKAP	CLCN4	MRPS16	TRMT10A	TBX15	KIF22	ATP6V0A2	PEX6	EZH2	PIGA	ZNF711	MMP14	PPP1R21	PRKG2	IDS	DNMT3B	NEMF	ALG2	AP1G1	JARID2	COL9A1	RERE	ELN	NTNG2	UNC80	MYO9A	EED	PLXND1	BRAT1	STUB1	MACF1	RIT1	SUMF1	PEX3	LARP7	COL6A2	PDE8B	PHF21A	EIF4H	PIGW	TTC26	LIFR	UBB	SLC2A10	EBF3	ERBB4	RPL10	BRCC3	STRADA	CRKL	ACADS	CHST3	PTPN23	DPYS	SNX14	TPRKB	SRD5A3	FMN2	POLR1D	WNT7A	PSPH	WDFY3	COL6A3	ALMS1	MMACHC	GJA1	ECEL1	TTC37	ARMC5	PIK3CA	TELO2	MRPL12	JAG1	HYOU1	TUSC3	BCORL1	METTL27	SLCO2A1	TRIP11	PPP1R12A	NPHP3	RPS6KA3	TMCO1	FTO	PEX16	NDN	CENPJ	GALNS	FGFR1	C2CD3	ATP6V1B2	MAN2B1	DHX30	KMT2E	BMP1	PPP3CA	SLC26A2	CYP24A1	FKBP6	PIGB	OTUD5	SNIP1	B4GALT1	ITCH	SH3BP2	ATP6V1A	TCF7L2	PHIP	HDAC8	CLCF1	PEX14	GNE	TSEN54	CLTCL1	SOX9	VPS37D	POC1A	LOXL3	RNF13	SLC26A4	IGF1R	GBA	ZIC2	ST3GAL3	TCF4	PHF6	TFE3	THPO	SALL1	PIGU	MED23	NFIA	TMEM138	ORC6	XRCC2	THOC6	COG4	SETD1A	PORCN	TNNT3	SVBP	SUMO1	SERPINH1	TCTN2	CANT1	MTOR	ETFDH	ZBTB24	CTCF	RAF1	SMARCAL1	CHD2	PLAG1	SPRED1	MATN3	CHRNE	TGFA	KBTBD13	TALDO1	NIPA1	TBX22	FMR1	TRMT1	DCHS1	SIX1	TNPO2	PPP2R1A	NEXMIF	CUL4B	ADAMTSL1	BPNT2	ADNP	PACS1	SLC37A4	HIRA	PALB2	GRIN1	CHAT	FRRS1L	CBL	ATP6V1E1	FANCG	FGF10	NBEA	PIGS	NF1	HERC1	GJB2	LINS1	SOS2	SEC24C	CDCA7	SLC9A7	ERCC2	TSPAN7	UBE4A	MPL	EXT2	EZR	TRIM37	COL9A3	ANKRD17	SMC3	MYH3	KCNK9	APC2	GAD1	SATB1	PKD2	NUP85	MAP2K1	ZNF423	USP7	TAB2	DYM	NMNAT1	KMT2A	GPC6	CAV1	SLX4	MRPS14	DNAJC21	ASXL2	RFXANK	SOST	RRAS2	EIF2S3	CRTAP	MEN1	CTLA4	FLT4	TCTN3	PDE11A	B3GALNT2	FOS	PCGF2	RPGRIP1L	KCNJ8	TTN	KCNQ5	NKX2-6	DENND5A	SOX11	PEX2	PKHD1	HEPHL1	ARX	SLC35A2	WASF1	ANOS1	RELN	SLC35C1	KCNQ1	TMEM231	ALG11	CTNND2	MAP3K7	SON	BRSK2	RREB1	MN1	MOCS1	SH3PXD2B	GJB6	IGF1	TGFB3	COMT	ZMIZ1	SKIV2L	RAD51	KIF4A	AXIN2	ACTB	NCF1	MRPS34	FBXO11	TOR1A	POLR1C	LAMTOR2	AGT	TRIO	ALG1	AHI1	MMP2	GNPTG	FBXO31	USP8	CACNG2	GTF2E2	ACTL6B	EDN1	ATG7	FOXE1	DPYSL5	C12orf4	MID1	CHD4	WAC	ITGA7	NEDD4L	CA2	RHOBTB2	MEOX1	LMOD3	KCNMA1	SLC10A7	TNFRSF1B	BCL7B	TRPM3	TBC1D7	SLC17A5	TOPORS	MSX1	POR	TSPEAR	IFITM5	TRMT5	MAP3K20	SMARCE1	LMAN2L	KIAA0586	COL1A2	BRF1	FANCB	ALG9	EFEMP2	CHRNB1	CLIP1	PRICKLE2	ASXL1	DDR2	CNOT1	SLC6A1	RFC2	WASHC4	PGAP1	CAMK2A	RSPRY1	UBR7	LTBP3	FGF20	MYH8	PRDX1	SPRED2	SLC5A7	GRIA4	CASK	ADGRG6	MCOLN1	JAK3	NAA20	TECR	LRPPRC	NBAS	CTDP1	DSTYK	ADARB1	FLII	RBMX	DVL1	CFL2	SOX18	METTL23	BUB1	FN1	SCN1A	RNF2	ZFHX4	BSND	PEPD	EDC3	NTNG1	CLIC2	EXOSC9	CNOT3	DLK1	ACE	GP1BB	WNT5A	NDE1	AMMECR1	KAT5	FGF9	MOGS	HSD17B10	MED25	PIGC	ALG14	MED13	SPECC1L	LIMK1	NFIB	PIBF1	SPOP	TTI2	TP63	CHRNA7	TCTN1	CSF1R	EXOC6B	LMX1B	ELMO2	PPARG	CDH11	PAX7	SH2B1	HPSE2	ZNF699	CTNNB1	ERCC1	IQSEC1	TUBGCP4	LHX3	CEP290	MADD	CACNA1C	PALS1	NANS	TET3	POLR3A	KIF15	STXBP1	TTC5	EPB41L1	STAG2	BUB3	TBL2	RBBP8	RIC1	EXOC2	ADSL	RASA2	FANCM	GNS	GK	OPHN1	TMEM270	P3H1	HTT	HECW2	B3GAT3	LRP4	MIR17HG	UFSP2	NDST1	RNF113A	SLC18A3	LMBRD2	ITGA3	LZTR1	P4HTM	RHOA	ARMC9	RAPSN	WARS2	DPH1	SLC6A8	KCNJ5	PPP2R3C	SLC39A8	CACNA2D2	SLC2A2	DOCK8	TBR1	SSR4	VARS2	PIGY	PAK3	UBA1	LEMD2	TRAPPC4	DNAJC19	CLCNKA
HP_SHORT_COLUMELLA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_COLUMELLA	KMT2D	NALCN	ACTB	CTCF	CREBBP	DNMT3A	ARSL	KCTD1	B3GLCT	NAA10	CENPF	KDM6A	LMBR1	ALX3	ASXL3	TWIST1	ACTG1	ERF	SHH
HP_DEEP_PHILTRUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEEP_PHILTRUM	RTL1	PBX1	CDKL5	DNMT3A	PRKACB	EED	ATP6V1B2	PURA	BRAF	EP300	NOVA2	DPM2	KIF11	PPP1CB	DPYD	CBL	SMOC1	TRPS1	EZH2	ZIC2	OCRL	PIGS	PIGT	NBN	RYR1	CHSY1	INTS1	KCNK4	SLC35C1	SHOC2	OFD1	EFTUD2	NRAS	MGP	MYH8	EXT1	TALDO1	CREBBP	MED12	PAM16	NAA10	MAP3K7	SMPD4	SETD5	DLK1	NSD1	GNB2	EBF3	MEG3	FBN1	HS2ST1	SUZ12	UBE2A	SNX14	HRAS	TFAP2A	ARID2
HP_LARGE_FOREHEAD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_FOREHEAD	FMR1	BMPR1A	ODC1	PDE4D	STXBP1	SPOP	GNB2	HS6ST2	PTEN	COL25A1	MEIS2	STRADA	LEMD2	CAMTA1	LMX1B	TAOK1	FLNA	SUMF1	VPS33A	RNF125	ZFHX4	UNC45A	AMMECR1	ARID2	SRC
HP_FACIAL_CLEFT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_CLEFT	EVC	DYNC2H1	EVC2	POLR1B	ALX1	SPECC1L	RIPK4	DYNC2I2	FRAS1	COLEC10	POLR1C	POLR1D	IFT80	TCOF1	WDR35	DYNC2I1
HP_POTTER_FACIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POTTER_FACIES	NPHP3	ACE	REN	PKHD1	CEP55	AGTR1	ITGA8	UBA1	AGT	FGF20
HP_ABNORMALITY_OF_THE_ABDOMINAL_ORGANS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ABDOMINAL_ORGANS	EPB41	SLCO1B3	IL12A	GNA11	CTSA	REL	DDRGK1	FCGR2A	UQCRFS1	GATA6	RRAS	DPM2	GPC3	PRKCSH	FAH	PIK3R1	SKIV2L	TCIRG1	YARS2	SPRTN	PTPN3	NBN	IFT140	TCF3	UNC45A	TGFB1	FANCF	KATNB1	ERCC4	LDLRAP1	FANCD2	FGG	USB1	TWNK	ATRX	UMPS	PAX2	BBS5	RSPH1	IKZF3	PYGL	CTC1	MYCN	PHKB	OFD1	CEP290	MARS1	DIS3L2	GBA	DEF6	RIPK1	NHP2	POLG	PRF1	ACADVL	TOGARAM1	ADK	STAT4	PEX5	BCR	FOXJ1	PSTPIP1	CASP8	BBS7	CIITA	HBA2	MVK	LRRC8A	IL12RB1	CAV1	IGHM	SMARCB1	NLRP3	APC	NDUFS8	CALR	CYP7A1	MAD2L2	SDHD	FANCA	JAK1	SGSH	LYST	NUP37	TRAPPC11	RTEL1	IL1RN	CD96	RMND1	LRP5	PEX12	UROS	ODAD3	EPCAM	RNASEH2C	JAK2	POLG2	PSAP	PCSK9	ARID1B	ABCG8	RHAG	MDM2	PTRH2	NCF4	HBB	APOE	POU2AF1	FADD	DCDC2	ZPR1	PKHD1	GAPVD1	SLC44A1	ALMS1	LACC1	AIRE	MPL	PEX11B	INSR	LEMD3	REST	CCDC39	NDUFAF4	GNAS	H19	DNAAF11	TBX1	PRKAR1A	ALAS2	KCNH1	ODAD1	RABL3	FAM111A	KRAS	LIG4	NODAL	STIM1	ARSA	NLRC4	CORIN	ADAMTS3	MEGF8	SIK3	SPTB	PEX26	SLC25A13	CLPB	PIGM	MS4A1	PCCB	SMARCD1	GLIS3	SLCO1B1	TSC2	PEX16	CCDC65	ERCC6	RRM2B	MICU1	PEX6	WDR19	BUD23	TERC	ABCB11	SPINK1	TRIP13	NPHP3	LMNA	PMM2	FANCE	ALG6	DNAJC30	ATP6AP1	SH2D1A	RNU4ATAC	STX11	NLRP1	FLI1	VPS13A	SNX10	BRCA2	SAA1	CFAP53	ZFTA	GUSB	RHD	RARB	ARL13B	SDCCAG8	TMEM107	CBS	MMAB	DNAJC21	ERCC8	TET2	DNAJB11	MT-ND6	UROD	TNFRSF13B	CFAP52	MKS1	PEX13	IL2RG	B2M	ATP6AP2	YARS1	SMPD1	SEC63	IFT172	GSTM3	CDKN1B	ETFA	WDR35	TMEM67	IARS1	GATA1	ATP6V1B2	BRCA1	CEL	AKT2	IL18BP	IQCB1	EFL1	HPD	DYNC2I1	SUPT16H	LBR	DRC1	TBC1D8B	ABCC2	KCNJ11	TSHB	G6PC1	ASAH1	APOC2	CEP164	FOXRED1	CTBP1	SERPINA1	CLEC7A	SLC40A1	TCTN2	NSMCE2	GLB1	CC2D2A	GSN	LIG3	MT-TW	NUP85	PTPRC	SLC16A2	CENPF	ALDOB	PCK1	PSMG2	TMEM237	SLC25A20	STEAP3	FGFR2	MLH1	CYP27A1	NCF2	UGT1A1	MYO1E	CD247	FGA	ACTG2	NDUFAF2	TNFSF12	COL4A3	UFD1	DPAGT1	CTSC	HMGCL	CD27	TMEM70	ARG1	LHX4	TJP2	KCNAB2	NPM1	SMAD4	AGPAT2	COG1	ANKS6	PDGFRA	CLCN7	LIPA	STAT3	TBX19	EDNRA	PEX19	SEMA4A	DSE	HNF1A	SOS1	HLA-B	PSMB4	SRP54	SETBP1	KLF1	FECH	HGSNAT	PMS2	RAB23	DUOXA2	ELP1	ATP11C	UBR1	PEX3	ADA	NRAS	CDAN1	NAB2	NOTCH1	LMNB2	CTRC	BCS1L	TRAF3IP2	WT1	CD79B	PIGA	RTL1	RUNX1	PEX1	CPOX	HSPG2	PKD1L1	CPLX1	CARD11	ALPK1	ITK	RNF43	NDUFS3	ABCB4	ACAD9	RFXAP	DCLRE1C	AP1S1	NFKB2	NDUFB11	MPI	NUP133	CFTR	PC	MT-TS2	LZTFL1	NUP93	BRIP1	ALG8	DNAAF5	DGUOK	ALG13	MPC1	BAZ1B	MEG3	RFT1	TCTN3	NEU1	RAC2	TRAF3IP1	MT-ND5	BBS10	TXNDC15	RMRP	DNAI2	NCF1	MT-TV	BRD4	MT-ATP6	SYK	NPHS2	COQ8B	DYNC2LI1	PPARG	ATP7B	NOP10	DUOX2	TRHR	UBE2T	HESX1	MMUT	BBIP1	RPGRIP1L	CCBE1	FCHO1	NTHL1	NDUFA11	TNFRSF1A	WDPCP	MGMT	PTEN	TNFSF15	TTC8	STXBP2	TP53	SOCS1	ACTN4	SLC25A15	NDUFV2	NDUFA6	RFWD3	IL7R	GNMT	EARS2	CCDC115	PDGFRL	B3GLCT	GPIHBP1	ARHGDIA	CA2	FUCA1	ENG	SLC7A7	CLIP2	MPV17	COX4I2	FAS	GTF2IRD1	RAB27A	BTK	COG7	ADAMTSL2	HSD17B10	PKLR	YY1	TMEM216	BRAF	SDHA	MT-ND3	G6PD	NDUFV1	GTF2I	CTLA4	RAD51D	SUCLG1	TCF4	ACAT1	ELANE	WFS1	CFB	IGKC	GPC4	INTU	COX5A	RAG1	IFT27	ALG1	LETM1	PTPN22	GALK1	MT-TH	MSH6	LPIN2	KRIT1	ALG9	CD28	DNAJC19	SMARCA4	CASP10	NDUFAF1	GALT	PCK2	NDUFS1	DNAH1	FDX2	TSFM	CAVIN1	TRIM28	NAGLU	RECQL4	ARHGAP31	GDF2	DLD	RPS20	TRPV6	MRAS	LDLR	ZEB2	CHEK2	PTF1A	CFAP300	HPGD	TTC7A	IYD	NPHP4	NPHP1	SLC25A4	BTD	HNF1B	MT-CO2	STAT1	SLC2A1	PRDM16	NAGA	ATP8B1	SPTA1	POU1F1	HK1	C1S	TF	HBG2	IGLL1	NSD2	GATA2	HADH	LRBA	NUP160	BCL6	HEXB	CDC73	MEN1	ASXL1	DHFR	ABCA1	RERE	CD2AP	LMF1	EXTL3	MEFV	CDKN2A	SEC23B	CYP7B1	TLR4	XIAP	FBP1	SFTPC	TGFBR2	KCNN4	MICOS13	CLDN1	EMP2	CD55	PIEZO1	SERPINE1	HAVCR2	PNPLA2	PTPN2	PKD2	DNAAF4	KRT18	ELN	LYZ	CR2	SPIB	RFX5	NCKAP1L	FARSA	ETFB	ANK1	ABHD5	AP3B1	RAD51C	FOXP3	SCYL1	MRPS28	BARD1	STAT6	BICC1	IFNGR1	SPOP	SAMD9L	ABL1	SRSF2	PRTN3	COG6	BMPR1A	CFAP418	MAGT1	MPIG6B	FAN1	HLA-DPB1	SDHC	MTTP	ARSB	USP53	UNC13D	AMACR	HAMP	TERT	DAXX	IL23R	DYNC2H1	NEK8	AKT1	PHYH	OTC	CIDEC	PPOX	GNPTAB	FLNB	SAR1B	HFE	MLXIPL	MOGS	GPD1	NDUFB9	ARID2	HBA1	GCGR	TKT	INPPL1	CD79A	ABCC6	MT-CYB	PRPS1	XYLT1	TTC12	BTNL2	IGF2	PDGFB	VPS33A	HADHA	PSMB8	HMGA2	CFAP298	NR1H4	PUF60	PROP1	BBS9	CTNNB1	IER3IP1	HADHB	ALDOA	GAS8	CYBB	STN1	CD40LG	DNAAF3	UBE4B	IL17RC	ARVCF	IDUA	KIF20A	VCP	HOXD13	NDUFAF8	NOTCH2	NHLRC2	IL17F	DCTN4	CASR	BBS1	SPEF2	MT-ND2	AP3D1	RAD51	NEUROG3	TNNI3	RNASEH2B	SOX4	CD3E	DNAI1	DKC1	SMARCC2	BSCL2	SAMD9	FCGR3B	SURF1	PAX8	MMP23B	MRE11	PHKG2	DNAAF1	SLC9A3	KIF3B	MRPL44	AGA	RPGRIP1	CRB2	RHBDF2	TYMP	ASS1	PEPD	ZIC3	ERBB3	FAM111B	SAMHD1	FGFRL1	SPEN	HMBS	CLCA4	BBS12	SPECC1L	IKZF1	CCDC47	FAT4	SEMA4D	PEX10	LONP1	DPF2	LMBRD1	SCO1	CDON	CPT2	STX1A	NDUFS4	GCK	RSPH4A	THPO	GP1BA	BAAT	USP9X	PALB2	UQCRB	NGLY1	JMJD1C	GTF2IRD2	MTX2	GPI	PRKCD	IL21R	CCDC103	TRIM37	LUZP1	APOL1	ALG2	DYNC2I2	NUP205	CFAP45	CTNS	KLRC4	ORAI1	ZAP70	TREX1	MITF	GABRD	SKI	IFT80	TRPC6	PPP1R21	CEP19	WNT3	IDS	DNAH11	TNFSF11	ATPAF2	CYBC1	MC1R	ACOX1	MT-TQ	KIT	TRMU	NPHS1	IL12A-AS1	CCDC40	CDKN2B	CCDC28B	STUB1	PDX1	CDKN1C	CDK4	RIT1	SUMF1	FANCC	PDE8B	PNP	TSHR	EIF4H	APOB	TTC26	AXIN1	MET	ATM	C1QBP	NBEAL2	MYORG	FH	TPI1	ERAP1	B9D1	TWIST1	XRCC4	CD3D	PEX7	MT-CO1	ESCO2	MT-ND1	SHPK	NDUFAF3	TG	CNTNAP2	ATP7A	ACADS	SC5D	IFIH1	SLC20A2	RNU7-1	PNPLA6	HSD3B7	TSC1	ABCD3	DBT	MSH2	NEUROD1	SH2B3	MT-TF	TKFC	SPTBN1	RSPH9	SLC25A19	PHKA2	MMACHC	GALM	NDUFB10	MIF	PRKACA	TTC37	ARMC5	PIK3CA	TELO2	BLK	SLC4A1	IFT43	PLCE1	JAG1	HYOU1	XK	MT-TL1	DNAJB13	GCLC	TIMMDC1	TERF2IP	METTL27	SLCO2A1	ACD	DHCR7	NPC2	AKR1D1	PKD1	SP110	DHDDS	RELA	GANAB	MYPN	MYC	COX14	TRIM32	DNAH5	GALNS	ADAR	VPS4A	GBE1	AP2S1	IL17RA	MAN2B1	SPAG1	GALE	FARSB	CD19	IGF2R	COG8	COL14A1	NKX2-5	NDUFS7	FKBP6	POT1	SCNN1A	TPP2	FLT1	IL2RB	IRF5	DOCK6	MT-TK	OTUD5	MKKS	ICOS	B4GALT1	USP18	ITCH	NFS1	SLC6A14	TFR2	FASLG	PEX14	GFM1	HLA-DRB1	GNE	CCND1	VPS37D	IFNG	NLRP12	INS	C4A	TFE3	EIF2AK3	ARX	DLL4	SLC29A3	RPSA	APOA1	SCNN1B	HYMAI	ZNFX1	ARHGAP24	SLC11A2	XRCC2	COG4	SLC30A10	RNASEH2A	AGGF1	ADA2	ACP5	PTPN11	CASK	PARS2	TNFRSF11A	PIGG	NDUFB3	RINT1	ZMYND10	MYBPC3	MYL2	ABCC8	ETFDH	INPP5E	LYRM4	CTCF	RAF1	SMARCAL1	DDOST	HNF4A	OSTM1	PAX4	TALDO1	CEP120	PRKCZ	UCP2	HNRNPA2B1	CSPP1	CCDC32	TMEM199	NUP107	SCNN1G	ANTXR1	PALLD	NOTCH3	KRT8	VHL	MUC5B	UBAC2	SLC12A3	PDGFRB	SLC37A4	HIRA	MCIDAS	MYRF	SLC10A1	ARL6	AP1B1	SFTPA2	VIPAS39	XPNPEP3	HYLS1	FANCG	PIGS	STOX1	MT-CO3	CD70	PDPN	CCR1	TMEM126B	BCKDHB	SOS2	SEC24C	MT-TE	TMEM231	DNAAF6	SLC22A5	B9D2	APC2	PCCA	KMT2E	EPB42	G6PC3	RAG2	ACVR2B	BAP1	FOXF1	COA8	CCNO	IRAK4	HMOX1	CEP83	RASGRP1	RBCK1	OCLN	SLX4	MAFA	PSMB9	RPGR	CHD7	RFXANK	IL2RA	LHX1	SCAPER	KPTN	RRAS2	CD81	ENPP1	STK11	SNX14	F10	PDE11A	FOS	CBL	FMO3	NOD2	GPR35	RHCE	STRA6	PEX2	BBS2	MT-ND4	SOX10	IL36RN	RELN	SLC35C1	GAA	KCNQ1	NEK10	HBG1	SDHB	SON	TINF2	RAD50	WDR1	F5	SLC5A5	ACVRL1	NEK1	RREB1	CDKN2C	NUTM1	RBM8A	KIF12	NUBPL	HYDIN	TNPO3	COMT	KLF11	TNNT2	DPM1	PIK3CD	FBN1	CP	DNAAF2	KCNQ1OT1	BCKDHA	TMPRSS6	NELFA	MED12	CDKN1A	PSMB10	DZIP1L	ODAD4	LRRC56	NDUFS6	POMC	IFT74	LPL	JAM3	CLCNKB	MADD	FANCL	TNFRSF4	FGB	NADK2	LRPPRC	BCHE	EWSR1	SBDS	TNFRSF1B	BCL7B	GCDH	TRNT1	PRSS1	ARID1A	HLA-DPA1	NDUFS2	KCNN3	IL6	MYH11	SLC17A5	SOX11	POLD1	MED25	AGL	PCSK1	TRMT5	FANCB	CPA1	FANCI	MYD88	AUH	SCARB2	DMPK	MRPL3	ACADM	LIPE	VPS33B	CEACAM6	CISD2	BCL2	MLH3	DNASE1L3	RFC2	MAGI2	GYPC	PLIN1	HJV	FERMT3	GLRX5	SPRED2	JAK3	TARS2	POU6F2	MFN2	CPT1A	CDIN1	PLAGL1	IGHG2	AAGAB	TCTN1	MCM10	LTBP3	HMGCS2	SLC39A4	BMP2	TFAM	MMAA	GAS2L2	COG5	ANKRD55	DHCR24	ODAD2	CFAP410	MECP2	MMP21	DLK1	SLC51B	NBAS	TUFM	TTC21B	SLC26A4	GP1BB	MCM4	SLC16A1	NDE1	CFAP221	C2orf69	ADAMTS13	FLNC	EOGT	NDUFA1	PLEKHM1	ASL	NDUFAF5	IRF4	PFKM	BOLA3	CTSK	LIMK1	BLNK	MMEL1	SLC51A	HSD17B4	IRF8	MNS1	TNFRSF13C	SLC26A9	BACH2	TBXAS1	NSD1	CNOT1	ZNF699	ABCG5	ERCC1	RFX6	GDF1	CARS2	RSPH3	LHX3	NFKB1	SETD2	PGM1	SLC25A1	MCCC1	XPR1	PRSS2	PTPRO	C4B	ATAD3A	SLC34A2	SMARCE1	TMEM165	GNB2	APPL1	ANLN	TBL2	LARS1	PARN	GIMAP5	EXOC2	CYBA	RASA2	FANCM	GNS	MTRR	BLVRA	LCAT	STK36	TMEM270	DNAL1	BBS4	VPS45	BPGM	IL10	GUCY2D	INVS	NAGS	PIK3C2A	KDM5C	PMS1	AHCY	DNAH9	CHST14	CASZ1	MT-TN	HNRNPA1	LZTR1	IFT122	CEACAM3	NPC1	SLC39A8	LAT	SLC2A2	MST1	TPO	SF3B1	CFC1	BMPER	COX15	POLR3A	WRAP53	SLC11A1	CYP19A1	COX10	ANKFY1	RBPJ	INF2	JAM2	NME8	MRPS7
HP_VOMITING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VOMITING	ELN	ACY1	NOTCH2NLC	MPV17	ZEB2	EPCAM	CFH	CDKN2B	SUGCT	BRAF	TXNRD2	SHH	MT-ND3	NDUFV1	MT-ND5	CTNS	TGIF1	KRIT1	BCKDHA	SUCLG1	MED12	RET	CDKN1A	UNC45A	ACAT1	MT-TH	HELLPAR	SCNN1A	SPP1	HSD3B2	NDUFS6	CDON	FOXH1	HPRT1	FGF8	PHKB	FGFR1	MT-CO1	NDUFAF1	MPI	MARS1	LPL	MT-ND1	GALT	ACADVL	ATP6V0A4	NDUFAF3	COL5A2	NDUFS1	PHKG2	TDGF1	F12	DBT	DLD	NDUFS8	ALAD	SHANK3	STIL	MT-TF	GALC	EDNRA	OXCT1	NEUROG3	PPM1D	ATP1A3	SIX3	SPTBN1	ASPA	KARS1	NDUFS2	MT-ND6	LAMB3	CACNA1A	PMM2	NDUFB10	ITGB4	D2HGDH	PTCH1	ZIC2	CTNNB1	ACSF3	BTD	MT-CO2	NAXD	ATRX	CTRC	OTC	CPOX	DISP1	MT-TL1	TIMMDC1	SPINK1	DHCR7	MT-TW	HMGCL	DYRK1A	HADH	RELA	SLC22A5	ACADM	ASXL1	SLC12A1	MEFV	NDUFAF4	APC	FBP1	MT-TC	COL4A6	ERBB3	GALE	FARSB	CD55	SYT1	TREH	NLRC4	CD46	TNFRSF1A	COL1A1	CYP24A1	SLC25A13	NDUFS7	SLC25A15	PCCB	KCNJ1	MT-TK	EGFR	HIBCH	ETFB	GAS1	CDH23	RRM2B	PDCD10	ANAPC1	ALG11	CYP11A1	HMBS	MT-CYB	HS3ST6	FOXP3	STAT4	TCN2	DLL1	HMGCS2	SLC5A1	NODAL	SAA1	SCNN1G	ZFTA	HLCS	AASS	PCCA	MMAA	ELP1	RARS1	MMAB	AIP	SLC2A9	CPT2	SLC1A3	BSND	KIT	AVPR2	SCNN1B	MTTP	FLNA	GHSR	NBAS	YARS1	AIMP1	MSX2	HNRNPK	ETFA	UQCRC2	MT-ND4	PDSS2	AMN	CDK8	MVK	KCNJ11	PYCR2	AVP	SAR1B	NDUFB3	NDUFA1	STK11	ALDH18A1	NDUFB9	ASL	NDUFAF5	ALG8	ETFDH	ABCC6	BOLA3	MT-TV	SLC22A12	FOXRED1	SLC19A3	STAG2	POLG	LAMA3	PSAP	TYMP	STAR	LIG3	CYP11B2	ACAD8	STX3	ALDOB	TP53	CFI	DGAT1	NEXMIF	GLI2	SMPD1	NDUFAF2	OPLAH	NDUFAF8	IRAK1	ALPL	MCCC2	ESR1	MT-ND2	ARG1	HLA-DQA1	SERPING1	IVD	SLC5A6	PGM1	LAMC2	NNT	MCCC1	SMC1A	LIPA	ST3GAL5	MT-CO3	SLC7A7	PHKA2	PLEC	TMEM126B	COQ2	BCKDHB	ACP2	PKHD1	ABCC8	SLC37A4	TRMU	SLC12A3	ASS1	TIMM22	ALG3	ADNP	MTRR	KMT2E	NDUFS3	MET	GK	SCN2A	NDUFB11	NAGS	SI	RANBP2	COA8	MT-TS2	NDUFS4	MTHFD1	PHGDH	RECQL4	GLA	PIGY	DGUOK	CDKN1B	CLCNKB	COL4A5	CUBN	AQP2	TOM1	LBX1	MRAP	ENPP1	MT-ATP6	CLMP	SYK	TNF	NR3C2	PNPLA8	ATP1A2	MEN1	GFM2	SLC6A8	CARD8	FBLN5	NDUFA11	RYR1	ASXL3	DBH	SSR4	MMUT	COL5A1	HLA-DQB1	ACTG2	NDUFV2	ALX4	NDUFA6	HFE	MT-TQ	CCM2	ALG9	MC2R	CDKN2C	HNF4A	NFIX	CPS1	MRPS7	NUBPL	MLYCD	PPOX	CLCNKA
HP_DIARRHEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIARRHEA	CIITA	IFNGR1	CYP7B1	LCK	IL7R	MPV17	WAS	REL	EPCAM	FCGR2A	CDKN2B	SKIV2L	SUGCT	RIPK1	RAG2	POLA1	TXNRD2	DPM1	JAK3	PARK7	IL6ST	HBB	PIK3R1	DES	AK2	CYP27A1	TCF3	ANTXR2	CDKN1A	UNC45A	ACAT1	ALG1	RAG1	MT-TH	ATRX	SCNN1A	SPP1	CD3D	TREH	SI	PHKB	MT-CO1	STAT1	MPI	MT-ND1	GALT	DEF6	CLCNKB	MADD	IRF2BP2	BLNK	ERCC2	PHKG2	CASP8	TFRC	HSD3B7	KIF1B	MVK	SLC5A1	LRRC8A	NAGLU	IGHM	SLC46A1	SREBF1	MT-TF	NRTN	NEUROG3	TTC7A	TSHR	TKFC	ATP1A3	KNSTRN	AMACR	ELANE	SGSH	SCN9A	SRP54	CACNA1A	PMM2	SLC26A3	DNAJC6	TTC37	WNT2B	PODXL	ACSF3	BTD	MT-CO2	NAXD	SLC19A2	ENG	HYOU1	GDNF	CPOX	ABCB4	CD109	MT-TL1	GATA6	IGLL1	HMGCL	AKR1D1	HADH	LRBA	LRRK2	NCF4	ATP7A	MYD88	SP110	GREM1	TGFB1	AIRE	ETHE1	IDS	HEXB	MEN1	PRKN	ACADM	SLC12A1	IL37	MEFV	ITGA2B	IL21	EGFR	APC	F5	FBP1	DNASE1L3	RABL3	LCT	CD55	VPS13C	CD19	ITGA6	CTLA4	SMARCD2	LIG4	NLRC4	TET2	SMO	CD79B	TNFRSF1A	TMPRSS15	TTR	SLC25A13	TERT	SLC39A4	RNF113A	KCNJ1	IL2RB	RFX5	CPT1A	B4GALT1	ATP8B1	SON	RRM2B	ANAPC1	ABCB11	HMBS	RFXAP	MCM10	HS3ST6	FOXP3	ATP6AP1	STAT4	CFTR	TCN2	TLK2	HMGCS2	BMPR1A	SAA1	SCNN1G	SLCO2A1	IFNG	IL2RG	ERBB3	ELP1	LIPA	BTK	ADAM17	SRSF2	PIK3CD	BRCA2	COG6	CR2	ARX	ERCC8	SLC1A3	KIT	ADA	GUCY2C	TNFRSF13B	SNCA	SMAD4	SCNN1B	NOD2	MTTP	ZNFX1	SLC51B	ERCC6	HLA-B	DAXX	COG4	ABCD1	CDKN1B	MT-ND4	RECQL4	ASXL1	AVP	SAR1B	MT-ND6	ICOS	GFI1	IL6	IRF4	ALG8	RFXANK	IKBKB	MGME1	G6PC1	ASAH1	CD79A	CFHR1	PINK1	KIF23	TYMP	STAR	PLEC	DCLRE1C	LIG3	SLC51A	MT-TW	STX3	PTPRC	PTEN	TNFRSF13C	IDUA	CD40LG	BACH2	BRCA1	DGAT1	CD247	PPP2R5D	OPLAH	IRAK1	NHLRC2	PERCC1	PIGT	EDN3	PALB2	RFX6	SCN11A	HLA-DQA1	SLC12A3	SLC37A4	CD3E	SERPING1	SAMD9	PGM1	ALAD	NNT	HPS1	ITGB3	PCSK1	NBN	DDC	IL10RA	ECE1	TP53	MT-CO3	SLC7A7	SDHD	PALLD	PHKA2	AGA	HGSNAT	NSUN2	MYO5B	ITCH	ERCC4	ALDH4A1	CFH	GINS1	TCIRG1	CARMIL2	SEMA3D	MCM6	POLG	RUNX1	ALG3	IGKC	GNS	ZAP70	AP1S1	IKZF1	CCDC47	USP7	MT-TS2	NAGS	GLA	GP1BA	OTULIN	SLC9A3	C5	CDKN2A	CHD7	IL2RA	RET	EFL1	WIPF1	RNF168	TOM1	MT-ND5	EDNRB	MRAP	CFHR3	CLMP	SYK	NR3C2	MAOA	ERBB2	CBL	ATP1A2	PLVAP	HTRA2	SLC10A2	IL21R	TAOK1	CARD8	GP1BB	FCHO1	SPINT2	SYNJ1	DBH	SLC35C1	PKP1	IPO8	HLA-DQB1	ACTG2	ITGA2	WDR1	UCHL1	ALDOB	ACVRL1	ALG9	MC2R	KRAS	SEMA3C	CDKN2C	DNMT3B	HNF4A	RMRP	MT-TQ	MLYCD	ITGB4	COG7
HP_DYSPHAGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSPHAGIA	SACS	UBE3A	IRF5	TARDBP	MYO9A	ALS2	AGRN	MYO1H	OPA1	PYROXD1	CACNA1I	PRNP	FLCN	KIT	MAPT	GIPC1	STUB1	MACF1	SDHC	DNM1L	SHH	MT-ND3	PCNA	CDH15	FXN	YARS2	TIMM8A	DYSF	CHCHD10	TGIF1	ATXN3	TBP	YY1	ATXN1	NEK1	JAG1	CYP27A1	SIX3	ADCY6	EXOSC5	KATNB1	SYT2	TOP3A	LIFR	SLC25A1	HPCA	RNASEH1	PTCH1	TWNK	UBB	ACTB	POLR3A	HTT	CDON	EXT2	SLC5A7	FOXH1	EBF3	ERBB4	TRIP4	MT-ATP6	REEP1	MYT1L	TBCD	ATP13A2	HPRT1	FGF8	FGFR1	CACNG2	SPG7	CCN2	COLQ	GRHL2	CHD7	DLG1	ASAH1	ATG7	GBA	TAF1	POLG	KY	LAMA2	NTRK1	POLR3B	SLC6A9	TDGF1	SEMA3E	ERLIN2	MID1	SLC52A3	WAC	ITGA7	SQSTM1	CAMK2B	PUS3	PLEC	ACTA1	SLC1A4	SNCA	NECTIN1	ZMYND11	DNAJB6	ZEB2	IRF2BPL	STIL	TRPM3	DLL1	PSAP	ASH1L	AFG3L2	ATP1A3	NODAL	CRYAB	ASPA	PLP1	NOTCH3	C19orf12	CHRNA1	CAV1	CACNA1A	BRAF	FUS	MYH7	CHAMP1	SPG21	MTRFR	TP63	SLC25A4	DEAF1	NDUFAF2	ZIC2	POLG2	PRDM16	MYOT	REPS1	RERE	IRF6	MAP3K20	TSEN54	GBA2	MSX1	PIGN	DISP1	ATP7B	PLA2G6	SDHB	HOXB1	ATXN7	SYT14	TANGO2	NPC2	MT-TW	NDUFAF3	ZFYVE26	FIG4	TUBB4A	VAMP1	MFF	TGM6	MT-ND1	GRIN1	SLC44A1	FBXO7	DMPK	SPEN	SPTLC1	ALDH18A1	SIGMAR1	PLAA	DAB1	PRICKLE2	DDHD2	KLHL41	PANK2	TUBB6	FERMT1	GLUD2	COL4A6	CCR6	VARS1	NGLY1	CAMK2A	CDC73	MYPN	IDH1	PTS	SLC52A2	MYH8	PPP3CA	TPM2	CARS2	OCA2	GCDH	VCP	TBK1	IRX5	COQ2	KCND3	DGUOK	SET	SELENON	MT-TK	FA2H	KCNK9	SON	GAS1	RRM2B	ADD3	COL13A1	PNKD	DYNC1H1	WFS1	PI4KA	TK2	GCH1	REV3L	LRPPRC	CLCN1	PRKRA	MYH11	OPTN	ARX	MRPS28	KDM5B	APOE	NEB	SLC2A3	VPS13A	GALC	SETD1B	NR4A2	MADD	GFPT1	GIGYF2	ASCC1	AASS	RAI1	FLAD1	DCTN1	KAT6B	SATB2	FGFR2	RARS1	SPG11	HACD1	KIF5A	B4GALNT1	SCARB2	CHRND	CLTC	EIF4G1	RAB11A	CRLF1	SLC1A3	MT-ND6	EXOSC9	SDHA	CSNK2B	ANKRD11	KLHL40	ADGRG1	NF1	ABCD1	ACOX1	SATB1	SETX	RLIM	HLA-DRB1	IDH2	PLXND1	HPDL	MATR3	CACNA1G	FTL	GRHL3	XRCC1	NDE1	LMOD3	HSD17B10	FRG1	SRPX2	QDPR	LBR	KIF1A	GRM1	CYP7B1	SCO2	NOP56	SLC19A3	SURF1	STAG2	GDAP2	CNTNAP1	GNAQ	MPZ	SYNJ1	CHRNE	LRP12	MECR	HLA-DQB1	KBTBD13	LIG3	NUP62	PUF60	PRKCZ	GMPPA	EXT1	NOS1	NEFH	MMP1	TPM3	SCN4A	UBE4B	LMX1B	SCUBE3	LRRK2	GLI2	SNAP25	DCX	SNCAIP	PAX7	FGFR3	AR	DNAJC13	HLA-DQA1	NF2	MINPP1	NDUFA9	ECM1	UBTF	ZNF699	LINGO1	TTBK2	ATXN2	CHMP1A	NONO	DKK1	LAMB2	KLHL7	MED12L	PDP1	KCNAB2	CHAT	ATXN8OS	TSEN34	MBD5	ATXN10	CIC	ARHGAP29	TSEN15	PDGFRA	SMC1A	FGF10	MECP2	AOPEP	NBEA	SEPSECS	CUX1	KIRREL3	GUCY1A1	MYMK	TBC1D23	NOTCH2NLC	TCF4	MMP23B	PRPS1	HLA-B	UBQLN2	COL7A1	SETBP1	FARS2	PDPN	HGSNAT	STXBP1	NDUFB8	MYL2	EPB41L1	GNB2	SLC25A22	RHBDF2	NDUFS1	APP	GNAO1	NDUFA6	TYMP	ALDH4A1	CARMIL2	PIGA	SLC12A2	MT-TL1	VPS11	ADNP	HSPG2	GNS	SDHD	HMBS	PRPH	BAP1	SPECC1L	MT-TT	FBXL4	MED17	DYRK1A	PIK3R5	PABPN1	IKZF1	CAVIN1	MEGF10	TSEN2	MRPS25	NCAPG2	SPTBN4	GRM7	HIVEP2	KMT2A	DLX4	PMP22	CLN8	MAP2K2	SCN3A	MYORG	GRIN2B	EEF1A2	ADAR	PSEN1	COL4A5	BMP4	SLC18A3	EPRS1	CASZ1	KCNC3	LMNB1	PYGM	SIK1	SLC9A6	MT-TV	SOD1	HTRA1	TFG	COQ4	ADH1C	ATP1A2	MT-ND2	TRAPPC12	KCNQ5	WARS2	PDE8B	SPART	NPC1	LUZP1	KIAA0319L	NUTM2B-AS1	MT-ND4	ATP7A	C9orf72	GEMIN4	VPS35	DOCK8	ATN1	RELN	PFN1	SEC31A	PEX16	IPO8	RYR1	CTNS	ZMYM2	FUZ	ACTG2	NDUFS2	GABRD	SKI	BRSK2	GRIN2D	DPYSL5	NEUROD2	SYNGAP1	MT-ND5	TAOK1	FMR1	EIF5A	VAPB	VAC14	GJB1	NDUFS3	MGME1	PRKCG	UNC45B	ZC4H2	NEU1	SERPING1	CDH1
HP_NAUSEA_AND_VOMITING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NAUSEA_AND_VOMITING	FSHR	IL12A-AS1	ELN	ACY1	IRF5	NOTCH2NLC	IL12A	SLC25A4	MPV17	ZEB2	EPCAM	CFH	CDKN2B	SUGCT	BRAF	TXNRD2	SHH	PARK7	MT-ND3	MYH11	NDUFV1	MT-ND5	GTF2I	CTNS	CTLA4	NCF1	SLC25A11	TGIF1	KRIT1	NPPA	BCKDHA	SUCLG1	EIF4H	MED12	RET	CDKN1A	UNC45A	ACAT1	BAP1	LMOD1	HLA-B	ERAP1	MT-TH	ATRX	SMARCE1	HELLPAR	SCNN1A	SPP1	DNMT3A	HSD3B2	NDUFS6	CDON	FOXH1	DLST	HPRT1	FGF8	TRAF3	PHKB	FGFR1	MT-CO1	NDUFAF1	CCN2	TRAF7	MPI	MARS1	LPL	MT-ND1	GALT	CLCNKB	ACADVL	ATP6V0A4	NDUFAF3	COL5A2	STAT4	NDUFS1	ATP7A	PHKG2	TDGF1	F12	EWSR1	DBT	NLRP3	DLD	NDUFS8	UNC93B1	CYP11B2	RPS20	CTNNB1	CYP11B1	SCN5A	ALAD	SHANK3	STIL	BCL7B	MT-TF	NRTN	GALC	EDNRA	OXCT1	NEUROG3	PPM1D	ATP1A3	HLA-DPA1	SIX3	SPTBN1	ASPA	KARS1	NDUFS2	MT-ND6	CAV1	LAMB3	TBK1	CACNA1A	PMM2	NDUFB10	BIRC3	ITGB4	D2HGDH	PTCH1	DNAJC6	ZIC2	DCTN1	PODXL	ACSF3	BTD	MT-CO2	NAXD	KIF1B	CTRC	OTC	GDNF	FLI1	CPOX	DISP1	MT-TL1	TIMMDC1	TERT	METTL27	SPINK1	PDGFB	DHCR7	MT-TW	HMGCL	TLR3	DYRK1A	GATA2	HADH	LRRK2	VHL	MATR3	PIK3CA	RELA	BRCA1	SLC22A5	PRKN	ACADM	ASXL1	MYC	SLC12A1	MEFV	NDUFAF4	LIPA	SLC46A1	MLH3	TLR4	SDHAF2	PON1	APC	FBP1	SOD1	MT-TC	COL4A6	TGFBR2	RNF6	DNASE1L3	RFC2	RABL3	CCR6	ERBB3	GALE	FARSB	CD55	ATXN2	VPS13C	CDC73	SYT1	TREH	MSH2	NLRC4	TET2	SMO	CD46	TNFRSF1A	KRAS	COL1A1	CYP24A1	SLC25A13	NDUFS7	FKBP6	PON3	SLC25A15	PCCB	KCNJ1	MT-TK	EGFR	HIBCH	ETFB	GAS1	CDH23	RRM2B	PDCD10	MYLK	BUD23	ANAPC1	NEK1	ALG11	CYP11A1	HMBS	DNAJC30	MT-CYB	SDHB	HS3ST6	FOXP3	TCN2	DLL1	HMGCS2	PPARGC1A	SLC5A1	MMUT	CHCHD10	NODAL	SAA1	IFNGR1	SCNN1G	ZFTA	HLCS	VPS37D	AASS	PCCA	MMAA	ELP1	C4A	RARS1	C9orf72	SRSF2	PRTN3	BRCA2	BMPR1A	MMAB	AIP	SLC2A9	CPT2	SLC1A3	ANXA11	SMARCB1	BSND	KIT	FAN1	AVPR2	SNCA	HLA-DPB1	CCNF	SDHC	SCNN1B	SDHA	MTTP	FLNA	ANG	PTEN	GHSR	NBAS	HLA-DRB1	YARS1	AIMP1	DAXX	IL23R	MSX2	TMEM127	HNRNPK	ABCD1	GLA	ETFA	UQCRC2	VAPB	MT-ND4	PDSS2	SDHD	ERBB4	AMN	CDK8	MVK	KCNJ11	UBQLN2	IL18BP	PYCR2	PPOX	AVP	NF1	SAR1B	NDUFB3	MLXIPL	NDUFA1	STK11	PRPH	ALDH18A1	NDUFB9	ASL	NDUFAF5	ALG8	ETFDH	MGME1	TREM2	TICAM1	ABCC6	BOLA3	MT-TV	SLC22A12	FOXRED1	SLC19A3	STAG2	PINK1	POLG	LAMA3	LIMK1	OPTN	PSAP	TYMP	STAR	LIG3	ACAD8	STX3	CHMP2B	RAB27A	ALDOB	FOXP1	GLE1	FIG4	NF2	TP53	MLH1	CFI	DGAT1	NEXMIF	GLI2	SMPD1	NDUFAF2	OPLAH	NDUFAF8	IRAK1	ALPL	MCCC2	UBAC2	AKT1	ESR1	ITGA6	EDN3	MT-ND2	PALB2	PFN1	ARG1	HLA-DQA1	SLC12A3	SERPING1	IVD	SMAD4	SLC5A6	PGM1	LAMC2	NNT	MCCC1	PDGFRA	SMC1A	ST3GAL5	SEMA4A	ECE1	MDH2	MT-CO3	SLC7A7	SUFU	PALLD	EPHA4	PHKA2	PLEC	CCR1	TMEM126B	COQ2	BCKDHB	ACP2	PMS2	PKHD1	DAO	ABCC8	SLC37A4	TRMU	RHBDF2	ACTG2	DLEC1	ASS1	TBL2	PAH	PTPN22	SEMA3D	TIMM22	CFAP410	WWOX	ALG3	ADNP	KCNJ5	MTRR	KMT2E	NDUFS3	MET	GK	VCP	SCN2A	TAF15	NDUFB11	IKZF1	TMEM270	NAGS	SI	RANBP2	AQP2	COA8	KCNA1	IL10	MT-TS2	NDUFS4	CLCN2	MTHFD1	PHGDH	RECQL4	GLT8D1	PMS1	EXT2	STX1A	PIGY	CDKN2A	DGUOK	CDKN1B	BAZ1B	COL4A5	CUBN	HNRNPA1	TOM1	PON2	EDNRB	LBX1	MRAP	ENPP1	MT-ATP6	CLMP	SYK	TNF	NR3C2	GTF2IRD2	FUS	ERBB2	PNPLA8	ATP1A2	MSH6	HTRA2	MEN1	GFM2	SLC6A8	CACNA1D	CARD8	KIAA0319L	FBLN5	NDUFA11	MAX	RYR1	ASXL3	NEFH	FH	SYNJ1	DBH	SSR4	KLRC4	COL5A1	HLA-DQB1	SREBF1	NDUFV2	ALX4	NDUFA6	HFE	UCHL1	UNC13A	MT-TQ	CCM2	SQSTM1	WT1	ALG9	MC2R	SEMA3C	CDKN2C	EPAS1	CLIP2	HNF4A	FAS	GTF2IRD1	BCL10	TARDBP	NFIX	CPS1	MRPS7	NUBPL	MLYCD	CLCNKA	MALT1
HP_NAUSEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NAUSEA	FSHR	NF1	CPOX	RET	PRKN	KCNJ5	CFH	CDKN2B	SLC1A3	ETFDH	PARK7	MGME1	SDHAF2	APC	SLC22A12	SLC25A11	PINK1	NPPA	KCNA1	VHL	VPS13C	CDKN1A	CLCN2	LIG3	TET2	NAGS	CD46	COL1A1	EXT2	ASXL1	GLA	HELLPAR	ALDOB	DNMT3A	TP53	CDKN1B	DLST	ETFB	PHKB	CFI	SDHC	RRM2B	LPL	HMBS	COL5A2	SDHB	ESR1	PHKG2	TNF	SAA1	POLG	HTRA2	CYP11B2	CYP11B1	SCN5A	MEN1	ALAD	CACNA1D	SRSF2	EDNRA	MAX	RYR1	FH	SYNJ1	SLC2A9	KIT	MDH2	SNCA	COL5A1	SLC7A7	DNAJC6	PHKA2	PODXL	KIF1B	CTRC	PKHD1	SDHA	UCHL1	TMEM127	TYMP	CDKN2C	EPAS1	SPINK1	ETFA	SDHD	LRRK2	IL18BP	SERPING1	PPOX
HP_CONSTIPATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONSTIPATION	SLC6A3	COMT	UNC80	ZEB2	MYO1H	NALCN	PRNP	CHCHD2	KIT	CDKN2B	BRAF	TXNRD2	SHH	PARK7	FAR1	MNX1	GTF2I	TBCD	DES	NCF1	MRPS34	LMNB1	TGIF1	TBP	KDM1A	TSHR	EIF4H	RET	CDKN1A	WFS1	TRIO	ODC1	TWNK	MT-TH	VANGL1	IGHMBP2	CDON	FOXH1	ERBB2	UBE3A	FGF8	FGFR1	PACS1	MT-CO1	MT-ND1	PCCB	FOXE1	CLCNKB	MADD	POLG	HESX1	COL5A2	TG	TDGF1	SLC12A2	WAC	RPS20	GRIN1	SOX10	STIL	BCL7B	MT-TF	NRTN	VPS11	KCNJ18	PPM1D	ATP1A3	SIX3	SPTBN1	TCF4	LAMB3	SCN9A	IYD	MDH2	CACNA1A	TCF20	RAI1	ABL1	OTX2	BIRC3	WDR26	PTCH1	DNAJC6	SLC25A4	TH	MAPT	MED25	EPCAM	ZIC2	PODXL	SCN11A	POR	MT-CO2	ATRX	POLG2	PIGV	PRDM16	POGZ	TSPOAP1	NKX2-1	ZSWIM6	GDNF	CPOX	POU1F1	PROKR2	DISP1	MT-TL1	SDHB	NRXN1	METTL27	LMNB2	GALNT2	DHCR7	CREBBP	DDOST	MAGEL2	LRRK2	CAMTA1	EDN3	BRCA1	ARNT2	SPEN	SNCA	PRKN	ADAT3	CHD8	CHRM3	RERE	SLC12A1	CISD2	MEFV	ELN	MLH3	TBX1	GLUD2	APC	TGFBR2	RFC2	MECP2	NGLY1	LHX4	VPS13C	CDC73	MSH2	SMO	TNFRSF1A	UBE3B	SIK3	KRAS	COL1A1	NKX2-5	TTR	OCA2	BICRA	FKBP6	KCNJ1	COQ2	GBA	SPATA5	TRH	DUOX2	FOXP1	GAS1	BUD23	HMBS	MSL3	DNAJC30	MYH11	STAT6	TLK2	DLL1	CD96	FLI1	NR4A2	IGBP1	FLII	CNP	NODAL	HNRNPH2	GIGYF2	VPS37D	THRA	PCCA	DEAF1	ERBB3	ELP1	PPP1CB	EP300	FDFT1	SLC26A4	BMPR1A	EIF4G1	FGF12	SCNN1B	TFE3	SLC1A3	MT-TE	SALL1	FAN1	AVPR2	SDHC	SDHA	LMX1B	SETD5	SATB1	TAF1	HNRNPK	ABCD1	MT-ND4	KMT2A	OTUD6B	GP1BB	AFF4	WASF1	AMN	SNRPN	OCRL	PPOX	GATAD2B	MBD5	MOGS	GABRA3	MLXIPL	MT-ND6	SUPT16H	CDKL5	CAMK2B	TRIM8	RRM2B	TSHB	SLC5A5	STAG2	PINK1	LAMA3	LIMK1	TYMP	STAR	LRIG2	CACNA1S	PSMB8	MT-TW	ZMIZ1	PROP1	FGF13	PRKCZ	VPS51	SPOP	UGP2	MMP1	KCNH1	UBE4B	MLH1	ARVCF	FOXA2	GLI2	SMPD1	PHOX2B	ALPL	SNCAIP	UFD1	CASR	SH2B1	DNAJC13	HPSE2	NSD1	PLA2G6	ARID2	MED13	PAX8	USP9X	SLC12A3	HIRA	LHX3	KCNAB2	SETD2	ALAD	LAMC2	NNT	FLNA	PDGFRA	SMC1A	SLC6A8	PIGS	SEMA4A	DSE	DDC	DHPS	MMP23B	TANC2	ECE1	SCN10A	SOX3	MT-CO3	COL7A1	UPF3B	PDPN	SCNN1A	STXBP1	DDHD2	SCNN1G	PMS2	GNB2	DUOXA2	DACT1	SEC24C	NAB2	TBL2	PIK3CA	HIVEP2	EXT2	CTNS	SEMA3D	ATXN8OS	APC2	AFF3	ADNP	HSPG2	MT-TK	SOX2	MT-TT	DYRK1A	TMEM270	CAVIN1	USP7	AQP2	MITF	MT-TS2	ATP7A	PMS1	STX1A	SRCAP	CDKN1B	BAZ1B	CHST14	HS2ST1	CASZ1	CUBN	TBL1X	EDNRB	MT-ND5	LBX1	MRAP	UBE2A	PRKG2	P4HTM	JMJD1C	UFC1	GTF2IRD2	GJC2	PCGF2	ATXN2	ADH1C	ATP1A2	MSH6	HTRA2	MEN1	SPART	TAOK1	MED12	LUZP1	TPO	MED12L	SETD1A	POU4F1	VPS35	ZNF292	ATN1	SYNJ1	RORA	PEX16	IPO8	COL5A1	SREBF1	ACTG2	CSNK2A1	FOXG1	GABRD	SKI	HFE	UCHL1	ALDOB	PPP1R21	EIF5A	MC2R	SEMA3C	RREB1	IQSEC2	CDKN2C	CLIP2	GTF2IRD1	BCL10	NFIX	DPF2	MT-TQ	MLYCD	MALT1
HP_GASTROESOPHAGEAL_REFLUX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROESOPHAGEAL_REFLUX	RERE	SLC6A3	IRF5	COMT	KAT6A	MYO9A	RPL10	AGRN	MYO1H	CACNA1I	NALCN	FLCN	CDKN2B	BRAF	SHH	PRKCSH	KCNQ2	CDH15	GTF2I	NCF1	MRPS34	ARSL	TGIF1	SCN3A	SUCLG1	EIF4H	NTRK2	PAK1	CDKN1A	SZT2	AMER1	TTC26	SLC25A1	TWNK	TECPR2	SRCAP	TWIST1	CDON	FOXH1	EBF3	ERBB4	MT-ATP6	MYT1L	FGF8	FGFR1	CACNG2	CCN2	MSR1	POLG	LAMA2	ARNT2	COL5A2	YWHAG	FOXG1	TDGF1	SMC3	TBX4	SFTPA2	ARV1	SPTLC2	SLC25A24	DSP	EHMT1	SLC12A2	WAC	SMC1A	GMNN	CAMK2B	TERC	CENPT	SLC1A4	ZMYND11	ATP1A2	SHANK3	ACADVL	STIL	BCL7B	SMG9	CACNA1A	SKI	KMT2C	TRPM3	GALC	KCNB1	KIF1A	DLL1	ASH1L	PPM1D	SIX3	KNSTRN	ASPA	CHAMP1	TCF4	PSPH	CAV1	SYNJ1	ALMS1	WDR26	NIPBL	NEPRO	PTCH1	LRP5	SLC25A4	UBA5	DEAF1	SOX5	ZIC2	POR	ATRX	POLG2	PRDM16	POGZ	CHD7	ZSWIM6	TSEN54	CSPP1	SYT1	MEIS2	FLNA	PIGN	DISP1	NRXN1	TRMT10C	METTL27	DHCR7	GABRB2	NSD2	DDOST	STAG2	TRIP4	GRIN2D	MAGEL2	SNRPB	DYRK1A	ALDH18A1	FCSK	CAMTA1	ATP6V1B2	STN1	GRIN1	SPEN	NEDD4L	ADAT3	LONP1	KAT6B	RAD21	POLR2A	COL13A1	NPHS1	PRICKLE2	GNAS	ELN	ASXL1	SLC46A1	WNK1	TBX1	SLC1A2	AFF4	EEF1A2	COL4A6	RFC2	CCR6	KCNA2	MECP2	FARSB	CAMK2A	AARS1	NUP214	PIEZO1	KCNQ3	PPP3CA	ATAD1	COL1A1	BICRA	FKBP6	BRD4	CREBBP	SLC5A7	SET	ACTL6B	STAC3	RAI1	SON	GAS1	RRM2B	BLM	AP3B1	CNTNAP1	BUD23	DYNC1H1	NONO	PI4KA	LRPPRC	MSL3	DNAJC30	SLC2A10	MYH11	GLRA1	KDM5B	SPTLC1	COL2A1	SIAH1	SETD1B	CYFIP2	FLII	NODAL	HNRNPH2	RETREG1	VPS37D	AASS	FBN1	SLC13A5	ELP1	EP300	SATB2	FAM13A	SFTPC	DNM1	GABRA5	SALL1	PIK3CD	ADAMTS2	CLTC	SMARCA2	TMTC3	PDHA1	RAB11A	CRLF1	GON7	CNKSR2	PARS2	CSNK2B	TSPYL1	MUC5B	ADGRG1	NEXMIF	NECAP1	PYCR1	SATB1	HLA-DRB1	TAF1	DPP9	ORC6	CLCN4	GP1BB	AGO2	PORCN	STAG1	AP3B2	MLXIPL	SUPT16H	HDAC8	ABCD4	CDKL5	PIEZO2	SRPX2	MCEE	SLC6A5	TBC1D24	LBR	CTCF	CTBP1	TERT	FGFR3	LIMK1	PSAP	TFAP2A	HLA-DQB1	LIG3	NUP62	PGM3	PUF60	ALG12	PRKCZ	TOP3A	SFTPA1	NOS1	SPOP	NUS1	CHRNA3	GABRA2	UBE4B	SEMA3E	SCN8A	GLRB	ARVCF	SEC63	GLI2	SNAP25	ABCA3	UFD1	EDEM3	RNF125	ATP1A3	HLA-DQA1	CDC6	CDK19	DDB1	NSD1	ZNF699	RTEL1	ARID2	PIGT	ORC1	CHMP1A	SLC35A2	SYT2	PACS1	USP9X	HIRA	MED12L	KCNAB2	SETD2	CHAT	TSEN34	MBD5	SAMD9	CIC	TSEN15	WASHC5	ARFGEF2	HCN1	NBEA	OCRL	SEPSECS	CUX1	KIRREL3	DDC	GPHN	MYMK	MMP23B	PARN	COL7A1	PDPN	MAP3K7	MGAT2	CACNA1B	ATP11A	EPB41L1	SLC37A4	RHBDF2	TYMP	SEC24C	TBL2	ITCH	MAPK1	HIVEP2	EXT2	ARF1	LTBP4	TIMM22	WWOX	APC2	AFF3	ADNP	HSPG2	SYNGAP1	CPLX1	FGFRL1	SCN9A	FBXL4	KIAA0586	CCDC47	CELF2	TMEM270	USP7	VAMP1	TSEN2	FMR1	SPTBN4	ATL3	KMT2A	GNB5	ASCL1	PHGDH	CTHRC1	STX1A	ATL1	ATP6V1A	ERMARD	GRIN2B	CDKN1B	BAZ1B	TRAK1	MMP1	ADAR	GABRG2	COL4A5	SLC18A3	SLC19A2	CASZ1	ADAMTSL2	SLC9A6	ERCC8	JMJD1C	SHROOM4	GTF2IRD2	CCDC22	PCGF2	SEC23A	SH2B1	KCNQ5	MEN1	FGF12	LETM1	HRAS	LUZP1	KIAA0319L	ATP7A	GEMIN4	RET	ASXL3	DOCK8	ATN1	FGF13	MID1	SSR4	SEC31A	IPO8	COL5A1	ASCC1	TRAPPC12	MED12	ERCC6	GABRD	BRSK2	DHDDS	MAP1B	TAOK1	COG7	EIF5A	ALG9	RREB1	IQSEC2	CDKN2C	CLIP2	ORC4	GTF2IRD1	NFIX	DALRD3	PHOX2B
HP_ANAL_ATRESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANAL_ATRESIA	FANCM	FKTN	CCNQ	COMT	DCHS1	FGFR2	EPCAM	LONP1	CTNND1	CHRM3	RAD51	HCCS	RIPK4	SALL4	EXTL3	GLI3	CD19	GPC3	COX7B	SPECC1L	RSPO2	MNX1	NFKB2	USP9X	FANCC	TBX1	CEP120	BRIP1	RECQL4	FOXF1	DACT1	TNFRSF13B	POMT1	DYNC2I2	HSPA9	TWIST2	FRAS1	UBR1	AMER1	FANCF	ERCC4	GPC4	SLX4	INTU	FANCD2	KMT2D	TNRC6B	PIGN	CDH1	TBX3	MS4A1	DYNC2H1	CR2	TWIST1	FANCB	ZIC3	RAD51C	MYCN	NDUFB11	GDF3	ICOS	GDF6	FKRP	ARVCF	CHD7	TCTN3	BRCA2	TNFSF12	HOXD13	CD81	MKKS	UFD1	MAMLD1	FANCL	FANCE	KIF7	SEMA3E	JMJD1C	MID1	DPYS	AR	VANGL1	CCDC22	HIRA	NFKB1	PALB2	UPB1	MEOX1	FREM2	UBE2T	NBN	TNFRSF13C	MAD2L2	FANCA	PPP2R3C	SALL1	KMT2C	MED12	WASHC5	SPINT2	EMC1	FANCG	PQBP1	SIN3A	KDM6A	ABL1	FUZ	CDC45	PITX2	DYNC2I1	B3GLCT	PIGO	RFWD3	NAA10	IFT80	XRCC2	GATA1	MKS1	PRKCD	SEC24C	WNT3	THOC6	RREB1	GRIP1	POMT2	WNT7A	GP1BB	BCOR	EHMT1	BRCA1	CAPN15	FANCI	WDR35	LARGE1
HP_MALABSORPTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALABSORPTION	AKR1D1	CIITA	SAR1B	IL12A-AS1	EFL1	MLXIPL	CYP7B1	DKC1	IL12A	LBR	EPCAM	FCGR2A	IRF4	MTOR	LPIN2	XRCC4	RFXANK	AGA	CD79A	GTF2I	PEX12	ZBTB24	AK2	PEX3	NCF1	PNLIP	IRF5	LIMK1	BLNK	TYMP	EIF4H	TCF3	UBR1	DZIP1L	WFS1	PGM3	HLA-B	KMT2D	ERAP1	SRSF2	APC	CYBB	SLC26A9	MLH1	SI	CTC1	NCF2	ACOX2	DMP1	CCN2	DCTN4	SHPK	STAT4	UBAC2	ERCC2	ATP7A	SH3KBP1	RFX6	HSD3B7	NEUROG3	HLA-DQA1	SLC5A1	LRRC8A	MEFV	IGHM	SBDS	CFTR	CALR	RPS20	NPM1	SLC46A1	RMRP	BCL7B	MIF	HPGD	PEX6	LIPA	EDNRA	OCRL	PEX19	TGFB1	SEMA4A	PCSK1	KDM6A	TJP2	RTEL1	SRP54	SLC9A3	CCR1	NSUN2	CAV1	PMS2	MTTP	PTF1A	HYOU1	TRMT5	ABCB4	DNAJC21	GCLC	METTL27	SLCO2A1	TBL2	PIK3CA	CDCA7	IGLL1	TET2	CTRC	PTRH2	NHP2	PARN	NCF4	PEX16	CD79B	MYD88	PKHD1	AIRE	MCM6	POLG	RUNX1	PEX1	PIK3R1	ENPP1	MT-TK	CEACAM6	CYBA	CISD2	CLCA4	PRSS1	PEX11B	RFXAP	ELN	MLH3	CCDC47	USB1	TMEM270	TLR4	TGFBR2	RECQL4	RFC2	CCR6	FAT4	HFE	DNMT3B	LIG4	IL10	LCT	HMOX1	CD55	PEX10	RFX5	PEX13	TREH	MSH2	ADAMTS3	PEX5	KRAS	PEX26	PMS1	FKBP6	SLC2A2	STX1A	SLC39A4	HELLS	BAZ1B	ATP8B1	BUD23	TERC	ABCB11	JAK2	SPINK1	DNAJC30	SLC6A14	FOXP3	CLMP	CLTRN	CEACAM3	GTF2IRD2	PEX14	MADD	SAA1	IFNGR1	CBL	MSH6	NOP10	VPS37D	SLC10A2	C4A	CCBE1	PEX2	MT-TL1	BMPR1A	MT-TE	ARX	FAN1	SLC29A3	KLRC4	HLA-DQB1	ANTXR2	BTK	SPINK5	KCNN4	SATB1	SLC51B	CTNNB1	TINF2	WRAP53	SLC11A1	AMACR	TERT	IL23R	SLC7A7	CLIP2	GLA	GSTM3	PRSS2	F5	COX4I2	FAS	GTF2IRD1	CYBC1	HLA-DRB1	SERPINA1	ASXL1	FLNA	CBLIF	SLC6A19
HP_ANAL_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANAL_STENOSIS	TBX3	PITX2	KMT2D	PIGN	CDH11	PIGO	DCHS1	FAT4	NSUN2	FREM1	RIPK4	FREM2	NBN	SPECC1L	MNX1	FERMT1	SALL1	CHD7	SMO	MED12	CCNQ	GRIP1	SALL4	FOXC1	KDM6A	SNRPB	FRAS1	CDC45	LIG4	AMER1	SEMA3E
HP_ABDOMINAL_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABDOMINAL_PAIN	FSHR	TP53	NPHS1	IL12A-AS1	IL12A	CFH	CDKN2B	TXNRD2	SDHC	PRKCSH	G6PD	GTF2I	CTLA4	NCF1	SLC25A11	PTPN3	EIF4H	TCF4	MED12	CDKN1A	UNC45A	ABCA1	ELANE	HLA-B	WT1	ERAP1	ATRX	HELLPAR	SPP1	PAX2	DNMT3A	DLST	TREH	SI	NABP1	LPL	DIS3L2	RIPK1	CLCNKB	SPTA1	STAT4	F12	KIF1B	MVK	TRIM28	EWSR1	CASR	CALR	RPS20	SOX10	ALAD	BCL7B	NRTN	PRSS1	HLA-DPA1	SPTBN1	SRP54	NUP37	BIRC3	IL6	MIF	LRP5	EPCAM	CTNNB1	PLCE1	GDNF	FLI1	CPOX	ESR1	METTL27	ABCG8	JAK2	CPA1	APRT	VHL	EDN3	NUP160	BRCA1	SCN5A	GAPVD1	PTPN22	LACC1	SCARB2	HEXB	BCOR	MYC	HBB	CD2AP	SPINK1	NLRP3	MEFV	REST	H19	ELN	MLH3	TLR4	SDHAF2	GBA	APC	COL4A6	TGFBR2	DNASE1L3	RFC2	RABL3	ERBB3	TET2	EMP2	CD55	CDC73	MAGI2	GYPC	SLC4A1	MSH2	CORIN	SMO	CD46	TNFRSF1A	PML	KRAS	FKBP6	FLT1	HFE	POU6F2	RET	RRM2B	BUD23	TRIP13	HMBS	DNAJC30	SPTB	SDHB	HS3ST6	ABCB4	BMPR1A	BMP2	BRCA2	HLA-DRB1	SAA1	IFNGR1	ABCB11	VPS37D	NLRP12	C4A	SRSF2	PRTN3	SCN1B	KIT	FAN1	GUCY2C	SMAD4	HLA-DPB1	SLC40A1	NOD2	ATP8B1	NPM1	GHSR	FIP1L1	ANK1	ARHGAP24	DAXX	IL23R	TMEM127	ABCD1	GLA	CDKN1B	F5	ADA2	SDHD	ASXL1	PORCN	CEL	PPOX	CASK	NF1	MLXIPL	STK11	TBC1D8B	GFI1	ABCC2	IRF4	STAT3	NKX2-5	GCGR	LIMK1	TYMP	STAR	PIEZO1	LIG3	GNE	NUP85	NR1H4	FGF13	STAT5B	TSC1	ALDOB	FOXP1	DDIT3	PTEN	NUP107	MLH1	CFI	SEC63	MPL	MYO1E	OPLAH	IRAK1	COL4A3	CPT2	POMT1	UBAC2	PIGT	TRPM4	PALB2	HLA-DQA1	SLC12A3	SLC25A26	SERPING1	PRKAR1A	FUS	NNT	HPS1	PRSS2	STOX1	SEMA4A	PTPRO	ECE1	MDH2	TSC2	GNA11	PALLD	P4HA2	CCR1	PMS2	PKHD1	CRB2	ANLN	TBL2	PIK3CA	CTRC	EPOR	ALDH4A1	ZBTB16	TCIRG1	PIGA	SEMA3D	MCM6	POLG	RUNX1	EPB42	MET	IKZF1	RARA	TMEM270	NUP133	CFTR	MITF	IL10	SEMA4D	ATP7A	NUP93	PMS1	KCNN4	STX1A	GPC3	OTULIN	PIGY	CDKN2A	BAZ1B	COL4A5	RNF168	EDNRB	MRAP	SYK	NPHS2	COQ8B	GTF2IRD2	CLDN16	NUMA1	ERBB2	CBL	MSH6	MMUT	MEN1	GPR35	CARD8	APOL1	MST1	MAX	TBL1XR1	FH	NUP205	KLRC4	HLA-DQB1	ACTN4	IRF2BP2	SREBF1	ACTG2	SDHA	ARHGDIA	TRPC6	MC2R	ANKFY1	SEMA3C	CDKN2C	EPAS1	CLIP2	INF2	FAS	GTF2IRD1	BCL10	MLYCD	EPB41	MALT1
HP_CHRONIC_DIARRHEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_DIARRHEA	TFRC	IDS	HEXB	IL7R	MADD	WAS	SLC5A1	SAA1	ETHE1	REL	EPCAM	RAG2	POLA1	JAK3	SREBF1	SAMD9	IL2RG	SLC10A2	DCLRE1C	PGM1	FOXP3	IKBKB	IL6ST	IL21R	PIK3R1	ASAH1	CARD8	CCDC47	USP7	COG6	FCHO1	CR2	STX3	TKFC	TNFRSF1A	PPP2R5D	NBN	SLC35C1	PKP1	IPO8	LIG4	SLC51A	ALG1	ANTXR2	RAG1	MTTP	TERT	BTK	ZAP70	SLC39A4	OTULIN	RNF113A	SLC51B	NSUN2	SON	CHD7	IDUA	HYOU1	IL2RA	ADA	BACH2	CYP27A1	PIK3CD	COG4	ITCH	WIPF1	TOM1	IRF2BP2	RMRP	MVK	ERCC2	LRBA	ATP6AP1	CARMIL2	CASP8	ATP7A	CLMP
HP_ABNORMAL_ESOPHAGUS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ESOPHAGUS_MORPHOLOGY	EOGT	MLXIPL	TGFB3	DKC1	STK11	TMEM67	ERCC4	REL	SOX2	RAD51	WWOX	GBA	RTEL1	FH	ACD	GTF2I	FANCC	SLC6A5	NCF1	LAMA3	LIMK1	YY1	PLEC	EIF4H	MED12	GREB1L	APC	POLR1C	DZIP1L	FANCF	PGM3	TTC26	INTU	FANCD2	PAH	FBN2	MMP1	SIX6	CYBB	FANCB	ZIC3	STN1	MYCN	CTC1	LMX1B	NCF2	SEMA3E	GLRB	NOTCH3	CHD7	RHBDF2	CBS	MSR1	HOXD13	KRT8	NHP2	HESX1	MAMLD1	FANCL	SMAD4	PHKG2	RET	FGFR2	MID1	RNF6	NOP10	PDGFRB	ARHGAP31	PALB2	CALR	NPM1	POLR1D	SAMD9	RMRP	MAD2L2	LAMC2	FANCA	BCL7B	FGFR1	PDGFRA	LIPA	FANCG	TGFBR1	PSPH	LAMB3	FOXF1	ALMS1	GPHN	ACVRL1	BRAF	DCC	ITGA8	HLA-B	SOX3	TRAPPC11	DYNC2I1	COL7A1	KIF3B	PHKA2	NOTCH1	STXBP1	STAT1	GNB2	PKHD1	PRKAR1A	SMAD3	PROKR2	ATP7B	DLEC1	METTL27	TBL2	TGFBR2	PARN	NCF4	FANCI	CARMIL2	SLC12A2	DCDC2	GIMAP5	FANCM	ARNT2	TGFB1	MEN1	CYBA	SPECC1L	ELN	DLL4	IKZF1	USB1	TMEM270	FERMT1	GBE1	BRIP1	COL4A6	RFC2	FARSB	FGF20	DGUOK	DYNC2I2	ITGA6	COL14A1	PHGDH	EFTUD2	CTHRC1	SLX4	ATAD1	TERT	KRT18	FKBP6	STX1A	SLC30A10	GDF2	DOCK6	RAD21	BAZ1B	COL4A5	BLM	POLR1B	ADAMTSL2	BUD23	AAGAB	TERC	JAK2	RAD51C	FANCE	DNAJC30	SLC2A10	TCOF1	MYH11	GLRA1	GTF2IRD2	AR	VPS37D	UBE2T	CARD8	WNT9B	COG6	PLA2G4A	ATP7A	TCF4	ADAMTS2	KIT	TGFB2	SDHC	ASCC1	SDHA	OTX2	IARS1	SMARCD1	SDHB	RFWD3	TINF2	WRAP53	RPL11	IFT80	BRCA2	XRCC2	WBP11	DYNC2H1	ENG	CLIP2	CDKN1B	RBPJ	F5	WNT7A	ADA2	GTF2IRD1	CYBC1	BRCA1	KIF12	ITGB4	WDR35	LZTS1
HP_ESOPHAGEAL_ATRESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ESOPHAGEAL_ATRESIA	EFTUD2	OTX2	ARNT2	PAH	AR	ERCC4	SMARCD1	SOX2	FANCD2	SIX6	FANCL	MYCN	IFT80	RMRP	PROKR2	WBP11	DYNC2H1	CHD7	FANCB	FGFR1	FOXF1	FGFR2	HESX1	MAMLD1	YY1	PLEC	DYNC2I2	ITGA6	ITGB4	SOX3	WDR35	DYNC2I1	SEMA3E
HP_POOR_SUCK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POOR_SUCK	UBE3A	PTCH1	MYO9A	AGRN	CHRNE	TSEN54	NDN	SNRPN	SHH	DYRK1A	DPYD	RTL1	ZIC2	SIX3	USP7	TBC1D24	VAMP1	SCO2	TGIF1	RARS2	TSEN2	SURF1	STAG2	HADHA	SPTBN4	STIL	CDON	CHAT	DLX4	PTS	TRIO	SIM1	GLI2	TALDO1	OCA2	SLC25A1	FGF8	HADHB	SLC5A7	UBB	UGP2	SMARCC2	PEX5	SLC52A1	FOXH1	DLL1	FGFR1	BMP4	GAS1	SLC18A3	COLQ	DLG1	HTRA2	SNAP25	MAGEL2	COL13A1	IDH1	SIK1	DISP1	ZNF699	NODAL	TDGF1	COL2A1	PLAA	NONO	MTM1	SYT2	PTPN23	LAMB2	AASS	HERC2	TSEN34	NECTIN1	MEG3	ARHGAP29	TSEN15	HRAS	SMC1A	ATP7A	SEPSECS	SPTBN1	PWRN1	ASPA	BRAF	CNTN1	MKRN3	SNORD115-1	NDUFS2	NDUFB8	GGPS1	RERE	GNB2	SLC25A22	IRF6	RHBDF2	MSX1	UBA1	PPP1R21	TP63	NPAP1	DHCR7	UQCRC2	MT-TE	DLK1	GRHL3	PEX2	NDUFAF3	SNORD116-1	CHRNA1	PWAR1	PQBP1	ATP6V1B2	TRMU	CDH1
HP_ABNORMAL_RECTUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RECTUM_MORPHOLOGY	CYBA	TGFB1	SEC23B	MLXIPL	STK11	LONP1	FCGR2A	RNF43	SALL4	POLE	POLD1	KEAP1	FREM1	MNX1	ELN	MLH3	INSR	TMEM270	GTF2I	NCF1	TGFBR2	RFC2	BMPR1A	LIMK1	EIF4H	POLR1C	LIG4	CYBB	MSH2	HCCS	KRAS	COL1A1	PMS1	FKBP6	DICER1	STX1A	VANGL1	JAK3	PTEN	RAD51C	CHEK2	BAZ1B	OTUD5	MLH1	NCF2	TCTN3	POLR1B	KLLN	BUD23	MKKS	CCBE1	COL5A2	ITGB2	DNAJC30	MSH6	DDB1	TCOF1	MYH11	CFTR	KIF7	DACT1	SDHD	GTF2IRD2	TTC7A	RECQL4	VPS37D	RPS20	SDHC	POLR1D	BCL7B	SALL1	CCNQ	PDGFRA	NTHL1	SPINT2	AXIN2	SEMA4A	KIT	FAN1	CDKN2A	TP53	SMAD4	COL5A1	SDHA	COX7B	PIK3CA	EPCAM	IL10RB	PIGV	SDHB	NSUN2	PMS2	NAA10	ENG	PRKAR1A	UBR1	RAC2	PIGN	NDUFB11	METTL27	MDM2	TBL2	CLIP2	AKT1	MUTYH	BCOR	GTF2IRD1	RPS6KA3	MSH3	CDK8	LTBP4	USF3	GREM1
HP_RECTAL_PROLAPSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECTAL_PROLAPSE	TGFB1	BMPR1A	COL1A1	MLXIPL	GTF2IRD2	FKBP6	STK11	ELN	STX1A	FCGR2A	NSUN2	PTEN	VPS37D	NAA10	BAZ1B	BCL7B	INSR	TMEM270	GTF2I	NCF1	METTL27	TBL2	CLIP2	RFC2	BUD23	BCOR	GTF2IRD1	RPS6KA3	LIMK1	CCBE1	COL5A2	EIF4H	LTBP4	DNAJC30	MYH11	LIG4	SMAD4	CFTR	COL5A1
HP_HIATUS_HERNIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIATUS_HERNIA	TP53RK	TCF4	ATAD1	COL1A1	NUP133	TGFB3	OSGEP	SLC2A10	WDR4	TPRKB	GLIS3	SPECC1L	WDR73	PORCN	GLRB	SLC6A5	CHST14	COL5A1	ADAMTSL2	ATP7A	ADAMTS2	TNXB	LAGE3	COL5A2	GPHN	GON7	NUP107	ZNF699	ALDH18A1	MYH11	GLRA1	NIPBL
HP_INFLAMMATION_OF_THE_LARGE_INTESTINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFLAMMATION_OF_THE_LARGE_INTESTINE	CIITA	STX11	FASLG	HLA-B	TGFB1	CYBC1	TNFAIP3	WAS	FAS	SLC37A4	IRGM	SKIV2L	IL6	RIPK1	POLA1	IL37	MASP2	RTEL1	RFXANK	GPR35	PRKCD	RFXAP	ZAP70	IL21	CARD8	ACADVL	STXBP2	HPS1	FERMT1	XIAP	COG6	FCHO1	MST1	RASGRP1	JAK1	SEMA4D	RFX5	TCF4	RET	IL10RA	ELANE	F13B	NLRC4	PLCG2	ABCB1	TTC37	NOD2	BCL10	MAP3K7	IL10RB	STAT1	UNC13D	SLC9A3	MEFV	ARPC1B	GPIHBP1	BACH2	CASP10	PIK3CD	F13A1	OPLAH	WIPF1	IVNS1ABP	DEF6	HLA-DRB1	FCN3	PRF1	INAVA	LRBA	FOXP3	CARMIL2	PSTPIP1	MYH11	NCF4	SYK
HP_PROTEIN_AVOIDANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROTEIN_AVOIDANCE	OTC	CPS1	ASS1	ASL	SLC25A15
HP_ANOREXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANOREXIA	IFNGR1	PTPN22	SCARB2	IL12A-AS1	RUNX1	IL12A	BCOR	CDKN2B	IRF4	HLA-B	TXNRD2	STAT3	SLC46A1	RARA	TLR4	GBA	MMADHC	PTPN3	RABL3	AQP2	IL10	STAR	CDKN1A	TGFB1	ACAT1	PML	ATM	SLC39A4	ERAP1	STAT5B	CALR	SRSF2	ATRX	AVPR2	CDKN2A	CDKN1B	CD3D	BRCA1	NABP1	CD247	CBS	ALPL	MRAP	NFS1	MLX	IL12B	STAT4	MPL	UBAC2	SYK	PALB2	ARG1	HLA-DRB1	NUMA1	CBL	MEFV	CD3E	PRKAR1A	ATP1A2	SMAD4	MMUT	MEN1	NNT	C4A	BRCA2	SLC4A1	JAK2	ATP1A3	TBL1XR1	CACNA1A	SLC1A3	TET2	HLCS	TP53	KLRC4	IRF2BP2	MECP2	PALLD	P4HA2	CCR1	SLC19A2	NPM1	FIP1L1	PKHD1	FLI1	DAXX	IL23R	MC2R	KRAS	CDKN2C	GLA	FAS	HMGCL	ASXL1	ZBTB16	MYD88	CCND1
HP_ESOPHAGEAL_VARIX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ESOPHAGEAL_VARIX	TTC26	EOGT	KIF3B	KRT18	TMEM67	PHKA2	NOTCH1	SLC30A10	GDF2	ARHGAP31	GNB2	PKHD1	DOCK6	GBA	CALR	STN1	LIPA	ATP7B	DLL4	ENG	GBE1	COG6	CBS	RBPJ	F5	KRT8	JAK2	FARSB	ADA2	DGUOK	ALMS1	ACVRL1	KIF12	MED12	SMAD4	DZIP1L	PHKG2	DCDC2	GIMAP5
HP_INTRACTABLE_DIARRHEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRACTABLE_DIARRHEA	EPCAM	SKIV2L	PLEC	TTC37	ITGA6	SMARCD2	ITGB4	SYK	C5
HP_ESOPHAGEAL_STRICTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ESOPHAGEAL_STRICTURE	IKZF1	COL7A1	FERMT1	TERT	NOP10	NHP2	LAMA3	MMP1	DKC1	LAMB3	PGM3	HLA-B	SAMD9	MYH11	LAMC2
HP_ZOLLINGER_ELLISON_SYNDROME	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ZOLLINGER_ELLISON_SYNDROME	CDKN2B	CDKN1B	CDKN2C	CDKN1A	MEN1	YY1	DAXX	PIEZO2	ATRX
HP_HYPOTHERMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOTHERMIA	MT-TL1	TBCK	PAX8	ACADSB	LHX4	DBH	GABRA2	TSPYL1	LHX3	UQCRFS1	DUOX2	MT-ND2	ATP7A	HESX1	TSHB	MT-ND3	COA6	MT-ND4	TPO	MICOS13	BTNL2	SCN9A	DDC	SUCLG1	IYD	MMACHC	MT-ND6	PROP1	LMNB1	SCN11A	TSHR	DGUOK	DUOXA2	SLC25A20	MT-TK	MT-ND5	POU1F1	SLC5A5	SCN10A	MT-TW	HLA-DRB1	ACADVL	HMGCL	NTRK1	MT-TV	TG	MT-ATP6	P4HTM	MT-ND1
HP_HEAT_INTOLERANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEAT_INTOLERANCE	UBE3A	EDARADD	EDAR	KRT14	OCA2	EDA	ORAI1	SHANK3	HNRNPK	MAP2K1	MAP2K2	CLDN10	NECTIN4	KRT5	LDHA	LBX1	PSENEN	POGLUT1	MBTPS2	POFUT1	ITPR2	NFKBIA
HP_MALIGNANT_HYPERTHERMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALIGNANT_HYPERTHERMIA	MYH3	CLCF1	RYR1	BIN1	DNM2	ABCA12	MYF6	ELP1	STAC3	CHRNG	PGM1	NALCN	CHRNA1	SCN4A	HSPG2	CRLF1	SCN5A	MTMR14	TRAPPC9	TRAF6	KDF1	CACNA1S	EDARADD	CHRND	EDAR
HP_PROXIMAL_RENAL_TUBULAR_ACIDOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_RENAL_TUBULAR_ACIDOSIS	SLC34A1	NDUFAF6	SLC4A4	GATA3	UQCC2	CA2	OCRL	EHHADH	GATM	PC	ALDOB
HP_ABNORMALITY_OF_THE_GLABELLA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_GLABELLA	RTL1	RSPO2	BICRA	CTBP1	NSD2	CPLX1	FGFRL1	SPTBN1	NF1	DLK1	SPOP	NBAS	FBN1	DPM1	ZSWIM6	MEG3	ALX1	INTS8	LETM1	TASP1
HP_MYOPATHIC_FACIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOPATHIC_FACIES	ERGIC1	BCL11B	SELENON	ITGA7	TPM2	TPM3	NEB	PYROXD1	GFM2	MYH2	CCDC174	VPS41	GIPC1	UBA1	ACTA1	DPM2	PIEZO2	SLC6A8	RYR1	SGCB	PIK3CD	KCNH1	HACD1	MYH7	KNSTRN	SPTBN4	TANGO2	NOTCH2NLC	LRP12	MSTO1	SLC16A2	TAFAZZIN	MYL2	STAC3	EBF3	MAP3K20	KLHL41	GMPPB	HOXB1	CERT1	PURA	TNPO2	SLC52A3	VAMP1	LAMA2	MYL1	SLC6A9	DMXL2	GLE1
HP_LOWER_LIMB_SPASTICITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_LIMB_SPASTICITY	SACS	UBAP1	PNPLA6	SPG7	MECP2	SELENOI	ALS2	OPA1	STUB1	NDUFA13	SLC2A1	ABCD1	GBA	DNM1L	FA2H	WASHC5	AP4B1	FAR1	NT5C2	USP8	KIDINS220	SRPX2	TBCD	FARS2	ENTPD1	GPT2	CYP7B1	AIFM1	RARS2	PNP	WDR45	SDHA	PSAP	WDR48	PAX3	MICOS13	ALDH18A1	NDUFAF5	INTS8	SATB2	NDUFA10	MTHFR	LAMB1	CCDC88C	OPA3	NDUFS2	TECPR2	IDUA	FOXRED1	CCT5	CPT1C	SURF1	CYP27A1	KPNA3	SOD1	KIF5A	ATP13A2	NEXMIF	ARL6IP1	TBCE	HPDL	NIPA1	KY	AP5Z1	EDNRB	NDUFV1	VCP	RNASEH2C	GBA2	CNTNAP2	IFIH1	TACO1	PLP1	ERCC1	SLC33A1	ARG1	MTPAP	RNASEH2B	UBE4A	INPP5K	C19orf12	SLC1A4	PPP1R15B	MAG	RTN2	NDUFS4	GALC	AP4S1	AFG3L2	PET100	AP4E1	AP4M1	SPG21	FUS	GJC2	GAN	HACE1	MTRFR	MRE11	PEX3	AMPD2	DDHD2	REEP1	VPS37A	RAB3GAP2	BSCL2	CYP2U1	ERCC4	ZFYVE26	TTC19	SOX10	VAMP1	ACTL6B	SAMHD1	NDUFS8	KIF1A	ARX	VWA3B	PDHX	SPTLC1	SIGMAR1	NDUFAF6	PI4KA	ERLIN2	NDUFV2	IBA57	ADAR	SETX	NDUFA4	NDUFS3	ZFYVE27	FLRT1	ERCC8	SDHB	NDUFA9	POLG	KLC2	DDHD1	KDM5C	NDUFAF2	SLC30A10	SLC25A15	COASY	STXBP1	LIPT1	TOE1	ATL1	MTFMT	WDR45B	L1CAM	COQ5	ERLIN1	HSPD1	MAN2B1	GOT2	NDUFA12	SYNE1	FBXO7	DSTYK	ZFR	CAPN1	MARS1	SPG11	DARS1	BTD	MED13L	VPS41	SLC16A2	ATRX	GFM2	SPART	CACNA1D	RARS1	UCHL1	GBE1	CLCN4	LYST	TRMT10A	GJA1	B4GALNT1	TFG	SPAST	NDUFS7	PDHA1	PEX16	PGAP1	ADGRG1	PIGA	SATB1	ERCC6	NDUFA2	NDUFS1	ECHS1	AIMP1	SDHAF1	ALG9	ATP6AP2	MT-ATP6	SDHD	ODC1	RNASEH2A	ARSI	SLC19A3	PRRT2	TREX1	COX15	ATXN10	REEP2	DNAJC19	BCOR	NEU1	POLR3GL	GATAD2B
HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_PYRAMIDAL_TRACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_PYRAMIDAL_TRACT	SLC6A3	SLC33A1	TBK1	PRNP	DPYS	MLXIPL	GTF2IRD2	ABCD1	SQSTM1	ALS2	FLII	NTN1	SLC2A1	VPS37D	PLP1	PRPH	DEAF1	DCTN1	ATXN10	WASHC5	TARDBP	ELN	PDHB	RTN2	BCL7B	TMEM270	GTF2I	L2HGDH	NCF1	PLA2G6	SPG11	AIFM1	CHCHD10	RFC2	MAPT	SLC19A3	C9orf72	MT-ATP6	FKTN	LIMK1	EIF4H	CTC1	DNAL4	UBAP1	GAN	ATXN8OS	FKBP6	STX1A	CPT1C	TREX1	SLC25A15	NEFH	BAZ1B	DCC	RAI1	ATL1	FUS	KPNA3	SPG7	VAPB	METTL27	IQSEC2	TBL2	CLIP2	KCNC3	BUD23	NIPA1	GTF2IRD1	ATP1A2	RAD51	L1CAM	GALC	DNAJC30	SOD1	SPAST	PRKRA	VCP
HP_RIGIDITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIGIDITY	SLC6A3	PARK7	NOTCH2NLC	POLG	PRNP	EIF4G1	FGFR1	SEMA6B	ARX	MAPT	STUB1	HTRA1	DNAJC6	RRM2B	COQ2	SLC6A5	CP	SLC19A3	SCN3A	PCDH19	PINK1	WDR45	GABRA1	TBP	PSAP	GLB1	NTRK2	VPS35	SYNJ1	SZT2	NUP62	GCH1	JAM2	LOXL1	SCN9A	CTSD	TWNK	REEP2	NUS1	HTT	PDE8B	GABRA2	OPA3	GALC	TMEM240	MT-ATP6	CSF1R	ATP13A2	SCN8A	CASK	SLC20A2	GLRB	LRRK2	SMPD1	SNCAIP	TAF1	DNAJC13	ATP1A3	CDK19	RNASEH2C	YWHAG	IFIH1	HTRA2	ARV1	ATXN2	HLA-DQB1	RNASEH2B	EIF2AK2	TH	MME	SNCA	ATXN8OS	LDHA	UBTF	ATP1A2	PDGFB	GCDH	CACNA1A	SCN1A	KCNB1	HCN1	SCN2A	FRRS1L	MECP2	ASPA	C19orf12	PLA2G6	GPHN	GJC2	TUBB4A	SLC25A4	UBA5	PNKD	PODXL	POLG2	ATXN3	TSPOAP1	CACNA1B	PTCD3	GABRB2	GRIN2D	RYR1	ACTA1	SAMHD1	WWOX	FBXO7	GABRG2	PRKN	SYNGAP1	PLAA	ATP6AP2	ADAR	ABCA12	MT-TT	KCND3	CELF2	SIL1	GLUD2	SLC1A2	LNPK	EEF1A2	RANBP2	PRKCG	KCNA2	ARSA	AARS1	VPS13C	MYO5A	PTS	CHMP2B	DDHD1	PPP3CA	JPH3	ATAD1	ATP6V1A	SLC30A10	COASY	GBA	ATL1	C9orf72	ACTL6B	TRAK1	UQCRC1	INPP5K	GIGYF2	ITM2B	PANK2	TK2	CRYAB	BRAT1	GLRA1	SLC2A3	NR4A2	KRAS	RAB39B	AFG3L2	CYFIP2	PRRT2	ADH1C	FOXRED1	SLC13A5	FGF12	DNM1	GABRA5	SCN1B	DHCR24	FGF13	SLC1A3	KCNA4	KIF11	CNKSR2	PARS2	NECAP1	CLTC	PDGFRB	UCHL1	SPR	NDUFAF6	DHDDS	DAB1	DCTN1	FMR1	MICU1	FTL	RNASEH2A	TREX1	AP3B2	RNU4ATAC	DALRD3
HP_SPASTIC_GAIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTIC_GAIT	KCNA1	KIF1A	SLC33A1	VAMP1	WDR26	APC	ARG1	SPG7	AP5Z1	ERLIN2	TACO1	ABCD1	MECP2	GJC2	HSPD1	MFSD2A	PLP1	WASHC5	NT5C2	CYP2U1	USP8	DDHD2	ARL6IP1	SPART	KIDINS220	RTN2	ZFYVE27	SPG11	C19orf12	WDR48	B4GALNT1	DSTYK	ATAD3A	CCT5	KIF5A	KCNA4	ALS2	UBAP1	UBA5	DDHD1	SLC25A15	CACNA1G	AMPD2	SACS	PGAP1	FARS2	SLC39A14	LMNB1	SHMT2	CPT1C	TECPR2	REEP1	REEP2	ATL1	ERLIN1	ALDH18A1	BSCL2	KPNA3	ATP6AP2	ZFYVE26	ARSI	NIPA1	VCP	FAR1	GBA2	SPAST	FBXO7	CYP7B1	ZFR
HP_GAIT_ATAXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GAIT_ATAXIA	SACS	ITPR1	EEF2	LMNB2	COA7	SLC9A1	BRAT1	TPP1	DNAJC6	VLDLR	PMP22	SDHA	RRM2B	MT-ND3	COQ2	IFRD1	FXN	FLVCR1	CP	GRM1	ABCA2	RFC1	ATXN3	SLC19A3	RNU12	GDAP2	PLD3	PCDH19	GABRA1	MT-ATP6	RAB11B	TBP	BEAN1	PAK1	ERCC3	TRIO	NUP62	KIF1C	MPLKIP	GCH1	MAB21L1	CCDC88C	GTPBP2	GRIK2	VPS51	SCN9A	THG1L	CTBP1	TWNK	TECPR2	ELOVL5	LARS2	EBF3	TMEM240	GPAA1	ARCN1	NEFL	SPG7	GTF2E2	EIF2S3	CUL4B	POLG	ATP13A2	UBTF	C12orf4	SYNJ1	DEAF1	PRNP	PSAP	CIITA	DKK1	HLA-DQB1	CAV1	EIF2AK2	PDP1	TH	MME	IQSEC1	SPTBN2	ATXN8OS	ATXN10	PMPCA	NTNG1	APTX	SCN1A	DNAJC3	TRPC3	SCN2A	FDXR	CHAMP1	TCF4	PPP1R15B	RUBCN	CLCN2	WDR26	CACNA1A	SLC25A4	HERC1	MRE11	SQSTM1	GTF2H5	ANO10	SMC1A	PDYN	TARS1	ATN1	POLG2	GRID2	TSPOAP1	BSCL2	ATXN2	WWOX	NARS1	MPZ	ARID1B	GBA2	TUBB4A	PLA2G6	POU3F4	MARS2	PRRT2	ERCC2	TMEM106B	CWF19L1	MT-TW	PIGG	MTPAP	PEX6	ALDH18A1	TGM6	MT-ND1	MT-TL1	TBC1D2B	GABRG2	HSD17B4	PNPLA6	ELOVL4	PCNA	FMR1	HTT	MAN2B1	PRKCG	ERBB3	UBE3A	MECP2	ARSA	ATAD3A	FAT2	ATP1A3	SLC25A46	UBA5	CLN8	RPL10	RFX5	KCND3	RFXANK	ATCAY	MT-TK	OPHN1	FA2H	ADAR	RNF113A	KCNC3	SLC18A2	CDKL5	ERMARD	PEX10	AFG3L2	RFXAP	SLC9A6	FGF14	MT-TV	PODXL	ATP1A2	VPS13D	CAPN1	SCYL1	NOP56	AASS	SIL1	MT-ND2	GRIN2A	GRIA2	NPC1	CACNA2D2	SCN1B	MT-ND4	STUB1	SCARB2	UROC1	SH3TC2	TANGO2	ADSL	MT-ND6	GJB1	MTTP	AP2M1	LMNB1	AP1S2	NUS1	SYNE1	SETX	DOCK3	MT-ND5	PPP1R21	HPDL	VPS41	GABBR2	CACNA1G	SNRPN
HP_BRADYKINESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRADYKINESIA	ATXN8OS	SLC6A3	FBXO7	PARK7	TACO1	GABRG2	PRKAR1B	MECP2	SNCA	POLG	PRKN	NEB	SCN1A	EIF4G1	CHCHD2	GCH1	MAPT	PLA2G6	HTT	DNAJC6	MT-TT	RRM2B	COQ2	PET117	ATP6AP2	GLUD2	FMR1	ATP1A3	PCDH19	PINK1	WDR45	GABRA1	TBP	VPS13C	MYPN	PTS	VPS35	SYNJ1	PRKRA	KBTBD13	JPH3	DNAJC12	JAM2	SCN9A	CSF1R	TWNK	SLC30A10	COASY	MYORG	GBA	PDE8B	ATL1	ATP13A2	SLC20A2	LRRK2	KCNC3	UQCRC1	HCN1	ATP5MK	GIGYF2	SNCAIP	FTL	TAF1	PANK2	DNAJC13	TK2	PODXL	TPM2	HTRA2	ADGRV1	ATXN2	SLC2A3	SCN1B	VPS13A	ATXN1	NR4A2	KLHL41	ADH1C	EIF2AK2	RAB39B	PDGFB	SCN2A	C19orf12	PPP2R2B	PRNP	SLC25A4	ACTA1	FARS2	TH	SLC39A14	STX1B	POLG2	ATXN3	TSPOAP1	PDGFRB	EARS2	UCHL1	SPR	GABRD	DCTN1	DHDDS	TPM3	TTC19
HP_NEUROMUSCULAR_DYSPHAGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEUROMUSCULAR_DYSPHAGIA	TPM3	COQ2	MAPT	MYPN	ACTA1	GALC	FARS2	TPM2	NEB	KBTBD13	KLHL41
HP_BILATERAL_TONIC_CLONIC_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_TONIC_CLONIC_SEIZURE	UBE3A	SLC12A5	YIPF5	TRAPPC11	TREM2	CACNA1I	CLCN4	PDX1	SRPX2	YEATS2	GBA	KIF4A	FAR1	MT-ND3	CDH15	INS	MT-ND5	TBCD	SCN2A	CHMP2B	GABRA1	CLCN2	PIGW	AP2M1	MTHFR	NHLRC1	PEX5	PSAP	CHRNA2	SCN1A	GRIK2	SCN9A	GCK	MT-TH	GABRG2	CILK1	ERBB4	MAPT	MYT1L	RPL10	CACNG2	MT-CO1	KCNT1	MT-ND1	CSTB	NEK1	CNTNAP2	GNAO1	ADGRV1	WAC	SMC1A	CNTN2	GRIN2A	CAMK2B	PUS3	TXN2	JRK	TBC1D24	SLC1A4	HNRNPU	ZMYND11	ARHGEF6	ACADVL	MT-TF	KCNQ3	TRPM3	CLCN3	DLL1	ASH1L	AFG3L2	ATP1A3	SLC2A1	IQSEC2	ASPA	MT-ND6	PSPH	NIPA1	CACNA1A	WDR26	CHAMP1	GABRB3	DEAF1	KCNA1	MT-CO2	ZNF711	GABRD	DNM1L	GABRA5	PCDH19	NARS1	TSEN54	VPS53	KCNQ2	MT-TL1	KCNJ11	TANGO2	MT-TW	STX1B	USP9X	FIG4	NEXMIF	ATP6V1B2	SP110	GRIN1	HEXB	PIGF	ACADM	CHD2	ADGRG1	ALDH7A1	TMX2	PRICKLE2	KCNMA1	EFHC1	PTEN	SLC6A1	MT-TC	NPRL2	CACNB4	CAMK2A	LBR	ALDH5A1	POLG	DLG3	BUB1B	PPP3CA	GAMT	RORB	KCTD7	CDC40	SET	PGAP2	SPATA5	MT-TK	FA2H	GPAA1	CABP4	COQ5	FRMPD4	HCN1	SIK1	DYNC1H1	RAB39B	MT-CYB	GRM7	KDM5B	PNKP	SPATA5L1	DMXL2	VPS13A	SETD1B	LAMC3	CASK	CLTCL1	AGTR2	SCN1B	RNF13	GRIA2	PSEN1	STUB1	EPM2A	CUX2	CLTC	GPT2	PDHA1	RAB11A	SLC1A3	LGI1	CSNK2B	PGAP1	SCN8A	PPIL1	DEPDC5	DNM1	CACNA1D	USP27X	ZNF81	MT-ND4	PAK3	MECP2	PDSS2	GNB1	NBEA	SARDH	PYCR2	TUBA8	PURA	NEUROD2	TRIM8	CEP85L	STAT3	GRN	PRPS1	KIF1A	MT-TV	ZNF41	GDI1	FTSJ1	HSD17B4	FGF13	SLC7A6OS	C9orf72	NDUFA4	KCNB1	CDKL5	PIGL	CERT1	SLC9A7	ZNF142	CNKSR2	DOLK	NSD1	PIGT	ADORA2A	AP3D1	UBE4A	MED12L	SETD2	TSEN34	MBD5	PIGQ	GAL	DMD	CIC	CACNA1H	PIGV	TSEN15	SYNGAP1	ST3GAL5	SEPSECS	CUX1	KIRREL3	PIGS	ACSL4	TCF4	ARX	MT-CO3	SYP	HERC1	COQ2	TSPAN7	EPB41L1	PCYT2	NPRL3	SQSTM1	MED12	LONP1	MICAL1	PIGG	ASAH1	VAMP2	CPA6	SLC22A5	APC2	AFF3	IL1RAPL1	GAD1	ACO2	HHAT	ATP6AP2	DYRK1A	GPHN	CERS1	HCN2	TSEN2	PRRT2	EXOC8	HIVEP2	MT-TS2	PGAP3	PHGDH	CRH	CLN8	MID2	NDUFS4	STXBP1	GRIN2B	EEF1A2	ALG13	STEEP1	MT-ATP6	SLC9A6	ATP1A2	HTRA1	CHRNA4	RELN	ABCC8	COX8A	FRRS1L	PLPBP	BTD	SLC25A19	SLC13A5	TMEM106B	PIGO	MT-ND2	KCNQ5	HACE1	GYS1	SAMD12	VCP	DOCK8	UPF3B	RPS6KA3	CPLX1	COL4A2	CHRNB2	MARCHF6	NUS1	PTCHD1	THOC2	BRSK2	DPYSL5	PIGY	GRIA3	MT-TQ	SETD1A	TAOK1	MAPK10	PIGP	DHDDS	SLC25A22	STARD7	DHX16	HCFC1
HP_LIMB_ATAXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_ATAXIA	VAMP1	NOP56	ATXN2	EEF2	SIL1	POLG	AFG3L2	SLC9A1	MME	STUB1	PRICKLE1	ABCD1	GBA	TPP1	ATXN8OS	BEAN1	PMP22	ITPR1	ATXN10	WASHC5	PMPCA	SDHA	ELOVL4	KCND3	COX6B1	RTN2	SPTBN2	APTX	FXN	CP	SCN1B	SYT14	CYP7B1	MAN2B1	PRKCG	PLD3	WWOX	TBP	ATXN1	FGF12	CSTB	FAT2	TBC1D23	PRNP	UBAP1	UBA5	CLCN2	MSTO1	GJB1	GRID2	CXCR4	SQSTM1	JAM2	PDYN	ANO10	SYNE1	ATN1	SETX	ATXN3	COQ2	RUBCN	FGF14	TMEM240	NKX6-2	NEFL	KCNC3	VPS41	ELOVL5	PEX10	XRCC1	RFC1	SCARB2	VPS13D	TGM6	CAPN1	MPZ
HP_ABNORMALITY_OF_EXTRAPYRAMIDAL_MOTOR_FUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_EXTRAPYRAMIDAL_MOTOR_FUNCTION	SLC6A3	MECP2	TREM2	ALS2	EIF4G1	CHCHD2	TSEN54	MAPT	OPA3	PARK7	CDK4	GTF2I	L2HGDH	CP	NCF1	CHCHD10	ATXN3	VCP	CHMP2B	WDR45	GABRA1	TBP	ATXN1	EIF4H	VPS35	ACAT1	NDUFS7	RBM10	SCN9A	TWNK	BAP1	HTT	GRN	TMEM240	HFE	ATP13A2	HPRT1	C19orf12	PDE10A	TAF1	POLG	SLC18A2	AP5Z1	RNASEH2C	SLC6A9	SERAC1	IFIH1	SYNJ1	ADGRV1	TRPM7	DPYS	SQSTM1	PSEN1	EIF2AK2	TH	SNCA	DNAJC6	BCL7B	PDGFB	GABRG2	SCN1A	SCN2A	TOMM40	NOTCH3	SERPINI1	PLA2G6	PPP2R2B	FUS	SPG21	SLC25A4	SLC39A14	PODXL	MTHFS	POLG2	TSPOAP1	NAGA	GABRD	TERF2IP	METTL27	PRNP	ACD	TANGO2	ZFYVE26	LRRK2	FBXO7	ETHE1	HEXB	TACO1	PRKAR1B	PRKN	SPTLC1	SIGMAR1	PLAA	GCH1	ADAR	ATXN7	ELN	CLN3	GLUD2	FMR1	FLRT1	RFC2	LIPT1	FKTN	VPS13C	SNORD118	SYT1	MYPN	PTS	PRDX1	GAMT	FKBP6	CLPB	POT1	CSF1R	SLC6A5	SLC30A10	COQ2	ERCC5	GBA	DCAF17	FA2H	CAT	MICU1	HCN1	ATP5MK	PLAU	BUD23	AFG3L2	MPO	PANK2	TK2	DNAJC30	GBE1	PRKRA	APOE	SLC2A3	VPS13A	NR4A2	KLHL41	GIGYF2	RAB39B	NDUFA1	VPS37D	COASY	PDGFRB	RARS1	LYST	STUB1	HEXA	TNR	TBC1D24	ATP1A3	ACTA1	CDKN2A	GPHN	UCHL1	DCTN1	PURA	FTL	RNASEH2A	KLC2	MLXIPL	PSEN2	HTRA1	ABCA7	RRM2B	PET117	TSEN2	BOLA3	TRAK1	PCDH19	PINK1	LIMK1	UQCRQ	GLB1	KBTBD13	GM2A	C9orf72	JAM2	SLC16A2	JPH3	PDE8B	CYP27A1	SLC20A2	SOD1	KIF5A	SNCAIP	SNCB	DNAJC13	APP	MINPP1	UBTF	TPM2	HTRA2	ATXN2	HLA-DQB1	RNASEH2B	XPA	PLP1	ATXN8OS	ATXN10	AOPEP	DDC	CTC1	ARHGEF9	FARS2	PSAP	GLRB	ZNF592	ERCC4	TMEM106B	TBL2	SORL1	TPM3	TTC19	NOS3	XPC	ASNS	SAMHD1	NEB	ATP6AP2	MT-TT	TARDBP	DDB2	PCBD1	TMEM270	MMACHC	CTSF	XPR1	CDKN2B	DNAJC12	STX1A	MYORG	ATL1	ALG13	BAZ1B	KCNC3	UQCRC1	TBK1	SCN1B	GTF2IRD2	SPG11	ADH1C	ERCC3	MGMT	GLRA1	ZMYM2	WDR73	STX1B	TREX1	DNAJC5	MITF	EARS2	SPR	ERCC2	CLIP2	DHDDS	CLN6	GTF2IRD1	MC1R	TERT	SLC2A1
HP_CHOREA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOREA	SLC6A3	MRM2	TRAPPC11	MECP2	DCPS	TNFAIP3	HSD17B10	ALS2	PRNP	CACNA1I	NCDN	NEUROD2	SLC2A1	VPS13A	PDHA1	OPA3	MED25	PIGC	SEPSECS	MT-ND3	CDH15	QDPR	FXN	ZC3H14	SCN2A	CP	TSEN2	HSPD1	KIF1A	MRPS34	PNPT1	SCO2	DYSF	PRRT2	SLC19A3	SURF1	DCAF17	TBP	SUCLG1	ATXN1	DLAT	NKX2-1	MECR	MICOS13	ATN1	NUP62	TRAPPC9	GM2A	SARS1	GTPBP2	PIGN	GRIK2	SLC16A2	SPOP	ARSA	HTT	CDKL5	JPH3	ERBB4	PDE10A	MT-ATP6	MYT1L	HPRT1	CACNG2	SLC20A2	ADA2	ATG7	ELP2	FTL	TAF1	NADK2	ZNF142	ERCC6	NDUFA9	PDE2A	UBTF	C12orf4	ATP7A	GNAO1	CC2D1A	IQSEC1	CHMP1A	GRIN2B	CARS2	CAMK2B	TREM2	RHOBTB2	MED12L	EIF2AK2	FMN2	GRIN1	TSEN34	POU3F3	MBD5	IREB2	PIGQ	GNAS	ZMYND11	CIC	FRRS1L	APTX	IRF2BPL	PDGFB	GCDH	TSEN15	TRPM3	DLL1	ASH1L	ST3GAL5	GPR88	SLC6A8	ATP1A3	NBEA	CUX1	KIRREL3	PLP1	DDC	CACNA1B	CACNA1A	MBOAT7	FUS	TCF4	GJC2	HNMT	ARX	TUBB4A	CHAMP1	SCN1A	MRE11	DEAF1	KCNA1	PNKD	SUOX	CRBN	NDUFB8	NAXD	SLC30A9	GRM7	TTC5	EPB41L1	ATXN2	TSEN54	SYT1	ERCC2	LINS1	TUSC3	PLA2G6	LMAN2L	MT-TW	NDUFAF3	UBE4A	NSUN2	VAMP2	EZR	GRIA4	SPR	MT-ND1	MT-TL1	SCN8A	RSRC1	TRIM8	TNIK	SPTLC1	SIGMAR1	GABRA2	CLIP1	PRICKLE2	NDUFA13	KCNMA1	FBXL4	ATXN7	PIK3R5	ADCY5	VPS4A	HCFC1	WASHC4	DHX30	NGLY1	PGAP1	PUM1	CAMK2A	SPTBN4	HIVEP2	POLG	PTS	XPR1	PPP3CA	UGDH	UFSP2	GAMT	CLPB	NDST1	AARS1	MYORG	SET	C9orf72	MT-TK	EEF1A2	NAA20	ADAR	TECR	TYROBP	FBXO31	SLC12A2	MICU1	ATP5MK	SIK1	DYNC1H1	PANK2	GCH1	LRPPRC	ATM	MT-TV	ATP1A2	CTDP1	KDM5B	PNKP	DMXL2	SLC2A3	SLC45A1	SETD1B	PRSS12	SPG11	MMUT	B3GALNT2	SLC25A42	CASK	SCN1B	SH2B1	NDUFA1	MT-ND2	KIF1C	KCNQ5	CRADD	GRIA2	CACNA2D2	METTL23	MT-ND4	ST3GAL3	STUB1	KIF5A	GUF1	ALKBH8	ACAT2	COX20	CLTC	AIMP1	DOCK8	RAB11A	TNR	SLC1A3	GON7	XPA	MT-ND6	PITX3	EDC3	MED23	MAN1B1	CSNK2B	AP2M1	FOXG1	AP1S2	NDUFS2	SETX	PSAP	PDGFRB	BRSK2	DPYSL5	SYNGAP1	MT-ND5	NDUFAF5	TAOK1	CLCN4	PIGP	GLYCTK	SLC25A22	NEMF	ACP5	AP1G1
HP_PROGRESSIVE_CEREBELLAR_ATAXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_CEREBELLAR_ATAXIA	SACS	SLC44A1	AUH	MVK	MT-TE	NDUFAF6	CACNA1A	NDUFV2	NDUFA13	NDUFA4	ATXN7	EEF2	TARDBP	NDUFS3	COQ2	KCTD7	RFC1	CHCHD10	ATXN3	PRKCG	SDHA	ATP6V0A2	ATXN1	NDUFA9	NDUFAF5	NDUFA10	NDUFAF2	MSTO1	NDUFS2	KCND3	LIPT1	FOXRED1	TMEM240	SURF1	MTFMT	FUS	ELOVL4	ANO10	PEX10	NDUFA12	NDUFV1	GLS	TACO1	VPS13D	PPP2R2B	TBK1	SPTBN2	TTBK2	ATXN2	ATP13A2	DKK1	SQSTM1	MME	WFS1	SCYL1	ATXN10	DARS2	NDUFS4	CLCN4	PET100	C9orf72	NDUFS7	PRDM8	PDHA1	GJB1	ATXN8OS	SLC25A15	TPP1	PDYN	ATN1	NDUFA2	PRNP	NDUFS1	ECHS1	GBA2	COQ8A	MARS2	VPS41	KCNC3	MTPAP	HTT	PEX6	SLC19A3	COX15	VCP	TGM6	NDUFS8
HP_DYSDIADOCHOKINESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSDIADOCHOKINESIS	SPTBN2	ITPR1	ATXN2	WDR81	ATXN1	SLC9A1	GCH1	MRE11	GRM1	XRCC4	VLDLR	FA2H	ATXN10	PDE8B	ELOVL4	CLN5	PDGFB	FMR1	RFC1	AFG3L2	ABCB7	MSTO1	GJB1	CCDC88C	SQSTM1	LMNB1	SLC30A10	ATN1	GRID2	CARS1	PDGFRB	DAB1	PLA2G6	SLC20A2	SPG7	POU3F4	ATXN7	TTC19	SLC18A2	XRCC1	POLR3B	TUBB4A	KCNJ10	TTPA	NFASC	PPP2R2B
HP_MIGRAINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MIGRAINE	IL12A-AS1	MT-TW	MT-TF	ENG	MT-ND6	CSNK1D	IL12A	CACNA1A	OPA1	MT-CO2	HLA-B	SLC2A1	SLC1A3	DNM1L	AMACR	AIP	MT-TL1	RRM2B	MLH3	TWNK	MT-ND5	LGI1	TLR4	MT-TV	MT-TC	GABRG2	TGFBR2	SCN1A	PRRT2	NOP56	SQOR	IL10	TREX1	APP	DEPDC5	MT-TS2	JAG1	FGFR2	MSH2	TNFRSF1A	KCNK18	KRAS	PMS1	RNASEH1	PDGFB	ERAP1	MT-TH	GDF2	SPOP	MYORG	MT-CO1	TWIST1	FGFR3	MLH1	COL3A1	ACSF3	ADA2	MT-ND1	RASA1	POLG	SH2B1	MLX	IL12B	STAT4	SMAD3	UBAC2	MT-CYB	SMAD4	ATP1A2	ADAMTSL1	ESR1	GPR101	CLTRN	RELN	TNF	MVK	COL4A1	IFNGR1	HTR1A	MEFV	EPHB4	NLRP3	ZFTA	MSH6	PGK1	RPS20	PDGFRB	C4A	EDNRA	STIM1	NDP	COL5A1	COPB1	BMPR1A	SEMA4A	NOTCH3	ACVRL1	SMARCB1	GRIN2A	FAN1	GP1BA	MT-CO3	KLRC4	NF1	SLC25A4	EPCAM	CCR1	GP1BB	POLG2	PMS2	MT-TQ	IL23R	MT-TK	GP9	PIK3CA	MT-ND4	KCNA1	FAS	PEX11B	SRPX2	GATA2	STARD7	NFIX	MYD88	SLC6A19	RELA
HP_MIGRAINE_WITH_AURA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MIGRAINE_WITH_AURA	CACNA1A	KCNK18	TNF	EDNRA	CSNK1D	PRRT2	SCN1A	NOTCH3	TREX1	ATP1A2	ESR1
HP_TRUNCAL_ATAXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRUNCAL_ATAXIA	NOP56	SPTBN2	WDR81	EEF2	TRAPPC11	VWA3B	EIF2AK2	STUB1	ABCD1	SLC1A3	CWF19L1	VLDLR	ITPR1	SDHA	KCND3	COX6B1	APTX	DARS2	KCTD7	SYT14	ATG5	CYP7B1	MECP2	COG5	UROC1	ATXN1	CACNB4	PPP1R15B	ATP1A3	PRNP	CLN5	POLR3A	MSTO1	GRID2	SACS	AP2M1	SHMT2	ATP2B3	ANO10	HARS1	SLC30A10	ATN1	ATXN3	EBF3	HIBCH	FGF14	GBA2	DAB1	NKX6-2	ATP8A2	CEP120	VPS41	ADGRG1	ATCAY	PEX10	NAT8L	SLC9A6	VPS13D
HP_HYPOPLASIA_OF_THE_CORPUS_CALLOSUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_CORPUS_CALLOSUM	RERE	KCNQ2	SACS	WDR81	FKTN	UNC80	DCPS	ZEB2	CACNA1I	NCDN	FLCN	RTTN	BRAT1	TBCK	RB1	MACF1	SRPX2	GBA	HK1	KANSL1	CCDC88A	RAC3	FRMPD4	DOCK7	AP4B1	CDC42	NT5C2	TAF2	CDH15	TBCD	SCN2A	GPT2	LMNB1	MAPK8IP3	KDM1A	YY1	TUBB2A	PYCR2	AHDC1	PNKP	KATNB1	LAMB1	PAH	MT-TH	PRMT7	TECPR2	POLR3A	ARHGAP31	ERBB4	RSPRY1	UBE3A	MYT1L	RNF13	CACNG2	MT-CO1	BICD2	COG2	EIF2S3	MT-ND1	TOGARAM1	PAFAH1B1	AP5Z1	FA2H	DIAPH1	ARNT2	TRAPPC14	PCLO	RNASEH2C	POLR3B	SLC6A9	LARGE1	C12orf4	CTNNA2	GNAO1	IFIH1	NADK2	MID1	CC2D1A	ZSWIM6	SLC25A24	RAC1	MED25	SMC1A	NEDD4L	NALCN	GRIN2A	CAMK2B	ERLIN2	SOX2	RHOBTB2	PUS3	EIF2AK2	EFNB1	FMN2	SLC1A4	AIMP2	CRPPA	POU3F3	GRIN1	ZMYND11	ALG3	PPP2R1A	DARS2	WDR73	MT-TF	SMG9	KMT2C	TBCE	TRPM3	AP4S1	DLL1	VPS11	ASH1L	LYRM7	IBA57	FANCB	TCF4	DDX6	MDH2	AP4M1	RAB3GAP1	WAC	HNMT	WDR26	CHAMP1	RMND1	SPG21	EBP	HACE1	MTRFR	COPB2	DEAF1	KCNA1	MT-CO2	GFER	REPS1	POGZ	AP4E1	GABRA5	TSEN54	SMARCE1	ARID1B	TUSC3	VPS53	PIGN	WT1	MT-TL1	LMAN2L	CYP2U1	POMT1	ALDH6A1	IFT52	DHCR7	BRF1	CSPP1	ZFYVE26	STAMBP	NSUN2	TMCO1	NKX6-2	EHMT1	FAT4	DYRK1A	AMPD2	CDK13	MAP1B	ACTL6B	PIGP	VWA3B	DYNC1I2	ADAT3	ASXL1	LONP1	PLAA	CCDC174	PIK3R2	POLR2A	TP73	TMX2	CLIP1	PRICKLE2	ADAR	TRRAP	DDHD2	USP9X	C2CD3	PDHX	LNPK	WASHC4	COX7B	VARS1	PGAP1	ARFGEF2	FGFR3	CAMK2A	TMTC3	TREM2	UBE3B	BUB1B	PPP3CA	CARS2	OCA2	PIGB	SYNJ1	RAB18	FANCD2	KCTD7	SET	RUSC2	TARS2	TOE1	SPATA5	OTUD5	NAA20	SNIP1	MEF2C	SON	TECR	FBXO31	CEP120	SIK1	CNTNAP1	GOT2	EXOSC8	TBC1D20	DYNC1H1	ATP6V1A	CDK10	GRM7	NR2F1	PCNT	RNU4ATAC	ADARB1	KDM5B	SPATA5L1	DMXL2	SETD1B	PRSS12	GFM1	PTPN23	CNP	TUBA1A	CASK	SCN1B	AKT3	RAI1	TUBGCP2	TUBB2B	RARS1	FDFT1	IGF1R	COG6	SPG11	METTL23	ST3GAL3	OSGEP	CLTC	PDHA1	RAB11A	PIGU	ZNF462	TRAPPC9	EDC3	MED23	PAX6	NFIA	CSNK2B	NARS1	ANKRD11	KIF2A	NEXMIF	DAG1	PSAT1	EMC1	MAPRE2	YWHAE	YARS1	TAF1	PDE6D	ATL1	CLCN4	HNRNPK	COG4	PRKDC	MT-ND4	POLG2	RNASEH2A	KIAA0753	SVBP	NDE1	NFIX	BCOR	POLR3GL	PARS2	MOGS	FKRP	MT-ND6	YIF1B	NEUROD2	NOVA2	ALG8	PIGC	SEPSECS	FIG4	ZC3H14	TSEN2	PRPS1	KIF1A	PIGG	FBXW11	AIFM1	TYROBP	KCNT2	MBTPS2	KCNK4	NUP188	MT-TW	ZMIZ1	PUF60	HSD17B4	SARS1	IER3IP1	ALG12	VPS51	DCHS1	DDX3X	POLR1C	TTI2	UGP2	SIX6	CDKL5	ZNF148	KIDINS220	DCX	NHLRC2	HPDL	CUL4B	LSS	HUWE1	EXOC7	DPAGT1	UBTF	GBA2	CTNNB1	AP3B2	GABRB1	IQSEC1	CHMP1A	NONO	SLC35A2	KIF5C	RNASEH2B	RALGAPA1	MED12L	POMT2	FGFR1	PPP1R15B	SHOC2	TSEN34	SPTAN1	MBD5	UBA5	SLC5A6	PIGQ	CEP290	CIC	FRRS1L	NANS	TSEN15	NBEA	CUX1	KIRREL3	FDXR	TUBB3	MBOAT7	TBC1D23	ARX	PITX1	MT-CO3	SETBP1	CRBN	TTC5	EPB41L1	LINS1	KIF7	HIVEP2	TMEM106B	ALDH7A1	ACER3	UBE4A	VAMP2	EZR	GRIA4	ASNS	SAMHD1	EXOC2	QARS1	STAG2	MAF	SOX3	TGFB1	RSRC1	EXOSC1	TRIM8	ADNP	TNIK	GAD1	ASPM	ACO2	ATP6AP2	FBXL4	WWOX	MAP2K2	PPP2CA	USP7	APC2	PSAP	EXOC8	KCNT1	NMNAT1	MT-TS2	GMPPB	SSR4	PHGDH	CNOT3	UFSP2	KIFBP	ZBTB20	TUBB	NDST1	SCN3A	SLC25A10	COASY	STXBP1	GRIN2B	AHCY	EEF1A2	NRROS	WDR45B	CLP1	SLC12A2	EPRS1	HS2ST1	HTRA2	ERMARD	MT-ND5	HIC1	SIN3A	ZFR	MINPP1	ATP13A2	ZNHIT3	SLC45A1	KAT8	B3GALNT2	PLPBP	DARS1	GJC2	PCGF2	SLC13A5	NF1	GRIK2	MFSD2A	PRUNE1	KCNQ5	CRADD	GFM2	SLC6A8	GLUL	PDHB	SLC1A2	MRPS22	ALKBH8	TRMT10A	ALX4	AIMP1	ASXL3	DOCK8	ATN1	RORA	MOCS2	RELN	RAB3GAP2	MAN1B1	GPSM2	FOXG1	PIGA	SHMT2	CARS1	EARS2	BRSK2	WDR62	GRIA3	SYNGAP1	TAOK1	GLRX5	PPP1R21	COG7	MOCS1	GLYCTK	EXTL3	SH3PXD2B	ARSI	SLC25A22	TRAPPC6B	TREX1	NEMF	ALG2	OTUD6B	MT-TQ	AP1G1	NARS2	NDUFA2
HP_MIGRAINE_WITHOUT_AURA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MIGRAINE_WITHOUT_AURA	TREX1	KCNK18	TNF	EDNRA	CSNK1D	ESR1
HP_ENCEPHALOCELE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENCEPHALOCELE	EOGT	B9D2	SPATA7	FGFR1	B9D1	FKTN	TMEM67	RPE65	TMEM237	ALX1	ALX4	CEP120	MKS1	TMEM216	POMGNT1	USP45	GDF6	IFT140	KIAA0586	CDON	ZNF423	CEP290	C2CD3	HSPG2	POMT2	TMEM107	CEP41	TCTN2	INPP5E	TMTC3	POMT1	TDGF1	PCYT1A	CC2D2A	FRAS1	RD3	POLR1C	ZSWIM6	KATNIP	SIX3	AHI1	CBY1	LAMB1	GAS1	CRX	TMEM138	CEP104	PTCH1	PIBF1	CPLANE1	CSPP1	ARHGAP31	RDH12	DOCK6	COL18A1	VSX1	TCTN1	TULP1	FKRP	TCTN3	SMO	POMK	IMPDH1	POLR1B	ESCO2	HOXD13	ALX3	TXNDC15	TCOF1	FLNB	AIPL1	RPGRIP1L	DISP1	GLI2	GUCY2D	DLL1	NMNAT1	HYLS1	ARMC9	KCNJ13	FREM2	CRPPA	POLR1D	SUFU	CYP26B1	CRB1	ARL13B	FGFR3	NODAL	STIL	ARL3	GMPPB	RPGRIP1	DLL4	TMEM231	B4GAT1	FLNA	SHH	MSX2	FOXH1	NPHP1	NOTCH1	IQCB1	LRAT	ZIC2	GRIP1	FGF8	TMEM218	RBPJ	TGIF1	LCA5	LARGE1
HP_OCCIPITAL_ENCEPHALOCELE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCCIPITAL_ENCEPHALOCELE	LAMB1	B9D1	FKTN	ALX4	TMEM67	RPGRIP1L	FKRP	INPP5E	POMT2	POMGNT1	CSPP1	CC2D2A	COL18A1	POMT1	MSX2	KIAA0586	MKS1	CYP26B1	SMO	POMK	C2CD3	ARL13B	TMEM107	TMEM218	HOXD13	TMTC3	GMPPB	TMEM231	B9D2	B4GAT1	LARGE1
HP_ABNORMALITY_OF_THE_UPPER_RESPIRATORY_TRACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_UPPER_RESPIRATORY_TRACT	HYDIN	CIITA	SMAD4	DKC1	COMT	KAT6A	WAS	RPL10	SHH	CCDC40	FCGR2A	XPNPEP2	GIPC1	HYLS1	SFRP4	KANSL1	JAK3	LEPR	DNAAF5	CTLA4	HSPG2	ARSL	DNAAF2	PNP	ANKH	KRT5	HDAC4	TCF3	TAP1	AHDC1	RUNX2	ELANE	AMER1	IGKC	INTU	PRRX1	USB1	ODAD4	LRRC56	PRMT7	MSH6	CTSK	RSPH1	NFKB2	RSPRY1	SMARCA4	XIAP	CTC1	DNAI1	OFD1	TAPBP	TP53	FOXN1	TAF1	IRF2BP2	BLNK	FRAS1	NEK1	SLC26A2	FOXJ1	F12	DNAH1	MID1	DNAAF1	SH3KBP1	LRRC8A	GMNN	NAGLU	IGHM	CASR	SMARCB1	MSH2	RSPH9	FREM2	LEP	GALC	CFAP300	ARID1A	HLA-DPA1	TONSL	SPTBN1	MLH1	LAMB3	TBK1	SGSH	SRP54	ALMS1	RAI1	GJA1	DNAAF6	RTEL1	DYNC2I1	DNAH5	FLNA	FUCA1	SOX11	ODAD3	DCTN1	BRF1	STAT1	FGFR2	ARID1B	CHD7	PRKAR1A	HYOU1	ALX3	SBDS	DNAJB13	DNAJC21	MDM2	KATNIP	IGLL1	CFAP298	CREBBP	RPGR	NCF4	LRBA	MATR3	RAG1	TGFB1	PKDCC	PTPN22	COL5A1	IDS	RTL1	PLG	PABPN1	DDRGK1	GALNS	DNAAF4	GLI3	DRC1	CCDC39	VPS13B	DNAAF11	TBX1	FERMT1	C2CD3	PON1	AFF4	SOD1	SPAG1	ODAD1	HLA-DRB1	ATXN2	CD19	SYT1	CD79B	TNFRSF1A	UBE3B	MGP	SCNN1A	MYMK	PON3	UNG	MS4A1	CR2	RFX5	SMARCD1	TNFRSF13C	ANO3	NFKB1	CHEK2	EGFR	SNIP1	ICOS	NLRP1	FOXP1	PTH1R	CCDC65	CAT	IGHG2	PRPS1	KRT14	TERC	KIF7	PLP1	RFXAP	LTBP3	ATRX	HS3ST6	SH2D1A	CFTR	PCNT	ADARB1	FLNB	IL2RG	PPARGC1A	SIAH1	COL11A1	CHCHD10	MEG3	SOX9	DCLRE1C	NLRP12	EDN1	TCOF1	FOXE1	KAT6B	EP300	SATB2	GAS2L2	BTK	C9orf72	PRTN3	FGFR1	SMARCA2	TP63	ODAD2	ANXA11	ADA	TBC1D24	TNFRSF13B	CFAP52	SLC29A3	HLA-DPB1	CCNF	CXCR4	TSPYL1	SCNN1B	ARSB	CCDC103	ANG	DLK1	MYSM1	TERT	ORC6	PRKCD	DYNC2H1	GRIP1	VAPB	IVNS1ABP	GP1BB	IKBKB	ADA2	SRPX2	ERBB4	KCNMA1	UBQLN2	LRP4	MCIDAS	CFAP221	WDR35	KCNJ2	DNAL1	EFL1	ZMYND10	STK11	PRPH	GFI1	ARID2	RFXANK	HLA-B	TREM2	ASAH1	CD79A	APC	MT-CYB	EIF4A3	TTC12	LAMA3	OPTN	PSAP	COL5A2	GNPTAB	LRP12	PSMB8	MST1R	PGM3	PUF60	ALG12	AICDA	IRF8	TBX3	GAS8	CHMP2B	GLE1	FIG4	CYBB	DNAAF3	SCNN1G	NCF2	SEMA3E	WRN	PIK3CD	ARVCF	UNC119	TNFSF12	HOXD13	IL17RA	NOTCH2	FGFR3	UFD1	SALL4	IDH1	HPS6	SPEF2	ZNF699	PFN1	RALGAPA1	SOX4	MDM4	RSPH3	DOCK8	HIRA	CFI	SERPING1	POR	SMARCC2	NPM1	LAMC2	ATP6V1E1	SCN4A	STAT3	FGF10	IL7R	NOTCH2NLC	IGSF3	NIN	HAAO	PSMB4	GUSB	IL6R	NF1	SETBP1	EPHA4	P4HA2	AGA	MAP3K7	HGSNAT	MGAT2	SMARCE1	DAO	RAF1	GLB1	COL12A1	MKS1	PORCN	SEC24C	RSPO1	NHP2	TRIM37	WNT3	PARN	LTBP4	DYM	TCIRG1	CARMIL2	CFAP410	PIK3R1	ADNP	DHCR7	ALX1	SIX2	GNS	NCF1	CYBA	RAG2	VCP	SPECC1L	STK36	RSPO2	NFIX	TAF15	STXBP2	GABRG2	FMR1	CCNO	ACP5	MAGT1	LONP1	DPF2	DYNC2I2	COG4	KDM5C	GLT8D1	PSMB9	DNAI2	SCARF2	RSPH4A	DNAH9	MEIS2	MAN2B1	RAC2	TCTN3	WIPF1	HNRNPA1	USP9X	NEK10	RNF168	CD81	KRAS	PON2	LBR	PDE4D	ATM	JMJD1C	MPDU1	FUS	BTD	NOP10	BLM	NBN	IL21R	MED12	FCHO1	STX3	NME8	LMNA	ASXL3	NEFH	KIF22	GRIN2A	CFAP45	CDKN2A	POLR3A	FCGR3A	ZAP70	SF3B4	TINF2	WRAP53	UNC13A	IFT80	SQSTM1	RREB1	DNMT3B	DNAH11	TAP2	EXTL3	SMCHD1	CYBC1	TARDBP	CAPN15	CD4
HP_PULMONARY_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_HYPOPLASIA	RTL1	LMOD3	DYNC2I1	DONSON	DHCR7	B3GALT6	KAT6B	PLXND1	REN	ETFDH	LONP1	SPECC1L	KLHL41	ATP5F1A	MCTP2	CEP120	HSPG2	NEK9	FGF20	NPHP3	ZMPSTE24	DYNC2I2	FRAS1	GREB1L	DZIP1L	TRIP11	AGT	INTU	RBM10	LIFR	INVS	PIGN	DOK7	RAPSN	GLE1	ADGRG6	CHRNG	CC2D2A	TRIP4	MEG3	NDUFB10	COL2A1	ACTA1	ETFB	SMO	LMNA	FANCB	TCTN3	ITGA8	MKKS	LBR	SLC18A3	AGTR1	DPAGT1	SLC26A2	CHRND	RET	PIEZO2	PHGDH	NEB	SLC25A24	LGI4	ZFPM2	VANGL1	MYRF	ASCC1	RARB	FREM2	NKX2-6	TAPT1	STRA6	RYR1	ALG3	PKHD1	MYH3	WNT9B	NUP88	GBA	MYOD1	PEX1	KIAA0586	AARS2	ALG9	COQ7	FAM20C	BMPER	FUZ	CDC45	PTH1R	WNT4	GLDN	FLNA	MYH11	SETBP1	KLHL40	IFT81	TMEM94	MUSK	RLIM	DLK1	GATA6	ACE	NAA10	IFT80	CHRNA1	NEK1	MKS1	DYNC2H1	WNT3	GRIP1	ETFA	NEK8	WDR35	BCOR	CSPP1	NSDHL	LTBP4	CEP55	WT1	FLNB
HP_PNEUMONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PNEUMONIA	IFNGR1	RAG1	EFL1	PTCH1	IL7R	WAS	MYO1H	REL	ICOS	FCGR2A	PLOD1	PURA	GFI1	ARID2	GIPC1	RAG2	POLA1	TBX20	CD19	JAK3	SHH	CFTR	FIG4	SIX3	ODAD2	TBC1D24	TIMM8A	LMNB1	TGIF1	STAG2	PNP	LAMA3	TNFRSF13B	GLB1	DCLRE1C	ZBTB24	SELENON	GNPTAB	COL11A2	DZIP1L	HLA-DQB1	NKX2-5	CFB	IGKC	PGM3	NHLRC1	KMT2D	ALG12	FBLN5	PTPRC	IRF8	USB1	UBB	NOS1	WDR19	TNFRSF13C	CDON	RANBP2	CARD11	CD3D	FOXH1	DLL1	NFKB2	SMARCA4	TBCD	DDR2	FGF8	KNSTRN	FGFR1	ZIC2	PIK3CD	DNAI1	TPM3	CD247	GLI2	UNC119	CREBBP	TNFSF12	IL17RA	FOXN1	TAF1	ACADVL	VPS33A	TREX1	BLNK	RNF125	NTRK1	IDH1	LTBP1	HLA-DQA1	ZNF699	PLA2G6	RYR1	TDGF1	CASP8	NADK2	MID1	SLC25A24	CD27	LRIF1	MTM1	ITGA7	IGLL1	SOX4	CD3E	DOCK8	SMARCB1	NFKB1	STAT3	OSTM1	MASP2	GAS1	SMARCC2	CACNA1C	SREBF1	SAMD9	EPM2A	LAMC2	SDHD	FCGR3B	STIL	SLC35C1	SLC35A1	SMC1A	RAC1	ARID1A	KDM6A	NBN	ELANE	LAMB3	SGCG	SRP54	ALMS1	NOTCH2NLC	SFTPB	CR2	NIPBL	IGHM	NKX2-1	SETBP1	SOX11	GATA4	NODAL	MED25	SMARCE1	TONSL	ARID1B	MYL2	PTCD3	MAP3K20	CSPP1	SBDS	ADA	TLL1	PIGN	DISP1	DNAJC21	LONP1	SCNN1B	PEPD	ACTA1	ASAH1	MAN2B1	LRBA	TCIRG1	CARMIL2	ATP6V1B2	SP110	PKHD1	CYBA	TGFB1	SCNN1G	EFEMP2	KCNJ6	IL12RB1	DRC1	CCDC39	ZAP70	NFIX	PANK2	KIAA0586	IL2RG	AFF4	COL4A6	B3GALT6	GAS8	ACP5	CD55	DPF2	SCNN1A	SMARCD2	CYBB	MTHFD1	ABCA3	OFD1	CD79B	TPM2	DNAI2	PAFAH1B1	MS4A1	CHD7	SMARCD1	CITED2	EGFR	COL4A5	NCF2	RAC2	IGHG2	BLM	AP3B1	KPTN	RNF168	CD81	PMM2	NCF1	LTBP3	MYH6	ACTC1	FOXP3	GBA	RNU4ATAC	SYK	P4HTM	SIAH1	CYBC1	IGBP1	TFG	AASS	FMO3	SNAP29	GATA6	EP300	SFTPC	IL21R	FANCF	BTK	LAT	FCHO1	ODAD1	HACD1	SMARCA2	STK36	PDHA1	CRLF1	PKP1	CFAP410	CXCR4	CCDC40	FUZ	TK2	CSF2RA	ZNFX1	WDR1	CSF2RB	ORC6	PRKCD	LIG4	DNAH11	DNMT3B	LEP	EXTL3	GRHL3	RMRP	MCIDAS	TNFRSF11A
HP_RESTRICTIVE_VENTILATORY_DEFECT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESTRICTIVE_VENTILATORY_DEFECT	RTL1	PLOD1	ENG	IDS	TTN	TRAPPC11	CHRND	MESP2	MYO1H	B3GALT6	PYROXD1	GIPC1	NLRP3	GALNS	CD19	FRG1	FLNB	NFKB2	IKZF1	DOK7	CTLA4	CHRNE	MEGF10	DNASE1L3	COPA	AGRN	ACP5	HLA-DRB1	TNFRSF13B	LRP4	HPS4	TOR1A	LRP12	COL2A1	SCN4A	MT-TL2	MT-TN	MS4A1	TSC1	CR2	GZF1	STAC3	CSF2RA	MEG3	HES7	ICOS	FGFR3	FARSA	DDR2	BTNL2	FKRP	TNFSF12	RNF168	WDR19	CD81	RNU4ATAC	SLC12A6	COL13A1	SELENON	SYNE1	DKC1	NFKB1	TNFRSF13C	HPS1	PRTN3	MUSK	HLA-DPA1	SGCG	ALMS1	CHRNA1	NOTCH2NLC	HLA-B	GDAP1	HLA-DPB1	TSC2	CHRNB1	SLC34A2	PIEZO2	DLK1	CSF2RB	GLB1	AK9	MYH7	PRKCD	RAPSN	DNAH11	MT-TL1	CHCHD10	NKX2-1	PTPN22	GNPTAB
HP_RESPIRATORY_INSUFFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESPIRATORY_INSUFFICIENCY	TARDBP	KAT6A	MYO9A	AGRN	CCDC40	TBCK	EXOSC3	GPC3	PRKCSH	DNAAF5	RYR1	YARS2	KLHL41	DES	CEP120	PEX3	HSPG2	CHRNE	SLC25A4	COL6A2	TRAPPC11	IFT140	CYP27A1	SELENON	MPZ	SUCLA2	BIN1	LIFR	PSAP	FBLN5	RNASEH1	MT-TN	TPI1	CTSD	TWNK	IGHMBP2	HSD3B2	MYF6	CHRNG	RSPH1	TRIP4	GMPPB	RAPSN	TBCD	PEX7	TRAF3	COLQ	OFD1	BICD2	MARS1	ASAH1	POLG	SHPK	LTBP1	NDUFAF3	SLC6A9	FOXJ1	TSC1	COQ9	SBF2	NDUFS8	UNC93B1	POLR1D	GALC	PEX6	IBA57	CRYAB	KNSTRN	FGFR3	HRAS	RSPH9	DSP	CHRNA1	LAMB3	TBK1	COL6A3	DNAAF6	SFTPB	NDUFB10	DYNC2I1	DNAH5	LRP5	LMOD3	PEX12	IFT81	NDUFAF2	ODAD3	DCTN1	POLG2	PTCD3	BDNF	GTPBP3	DNAJB13	TIMMDC1	CFAP298	NPC2	MT-TL1	FHL1	NKX2-1	MYO1H	PEX16	MATR3	PKHD1	ERGIC1	PBX1	PIP5K1C	MT-TT	DNM2	RTL1	ALDH7A1	BAG3	TMEM231	PLAA	COX14	COL13A1	NPHS1	DRC1	CCDC39	NDUFAF4	DNAAF11	GMNN	LIPT2	SPAG1	ODAD1	FARSB	LAMP2	MYPN	SLC52A2	ADAMTS3	UBE3B	RIPPLY2	SLC26A2	PEX26	NDUFS7	INVS	CLPB	PON3	DYNC2H1	HIBCH	CSGALNACT1	STAC3	TSC2	CCDC65	ERBB4	USP18	PRPS1	NFS1	DMD	FLNA	SLC2A10	TNPO3	GLI3	CLCF1	PEX14	PLPBP	TSEN54	SOX9	ASCC1	FOXRED1	DST	SFTPC	C9orf72	STIM1	HACD1	DNAJC21	CFL2	PDHA1	CPT2	ANXA11	EGR2	CCNF	MECP2	TSPYL1	ACTA1	KLHL40	TRPV4	HYMAI	NFU1	FGFR2	ANG	GPX4	HLA-B	ALG14	NDUFB11	SEPTIN9	GLA	ACVR1	VAPB	KIAA0753	AGGF1	LARS2	UBQLN2	MYOD1	CANT1	ORC1	NDUFB3	FKRP	TTN	UFM1	ZMYND10	TPM2	ORC4	MYL2	PIEZO2	TICAM1	DOK7	ODAD2	SCO2	LAMA3	OSTM1	NSF	COL11A2	LRP12	NUP188	KBTBD13	MTM1	SCN4A	NEB	PHOX2B	SUCLG1	CHMP2B	FIG4	ZNF148	SLC25A20	SEMA3E	MESP2	MPL	NDUFA10	CPS1	MTMR14	HPDL	EMD	DPAGT1	NDUFA9	DPM2	DYNC2I2	PFN1	TMEM70	SYT2	RALGAPA1	INPP5K	MFN2	SLC25A26	MCIDAS	CHAT	ALAD	MUSK	COL1A1	OCRL	FBN1	DDC	CNTN1	SRP54	TNNT1	CUL7	TK2	SLC25A46	EPHA4	KCNJ10	NDUFB8	GGPS1	TMEM126B	NSUN2	NDUFS1	NDUFA6	LONP1	MT-TE	AIFM1	TPM3	SNRPB	CDC45	PTPN22	CFAP410	NALCN	AFF3	PEX1	CPOX	TMEM43	REN	SMPD1	NDUFS3	G6PC3	VCP	ABCB4	PEX11B	ACTN2	TAF15	VAMP1	MEGF10	FOXF1	COA8	CCNO	GRM7	LRP4	GLS	NDUFS4	VRK1	SPEG	PEX5	MRPS14	MORC2	COL12A1	RPGR	MEG3	RFT1	SLC19A3	HTRA2	HNRNPA1	RNF168	PON2	LBX1	RMRP	ACOX1	DNAI2	PMP22	LTBP4	FUS	DYNC2LI1	NDUFS2	TFG	SLC13A5	COQ4	ERBB3	GLUL	STRA6	DLK1	CCBE1	PEX2	NUTM2B-AS1	NDUFA11	COL1A2	NDUFAF8	JUP	GAA	NEK10	SPG11	NDUFV2	CSF2RA	PLOD2	UNC13A	MT-ND1	AK9	DAG1	SLC7A7	TRIM2	NUBPL	RNU4ATAC	ORC6	HYDIN	SMAD4	NAXE	CDC6	GIPC1	COL6A1	MAMLD1	NDUFV1	CTLA4	ARSL	DNAAF2	ERF	MT-ND3	NEK1	TOR1A	AHDC1	POLR1C	DZIP1L	WFS1	AGT	ALG1	HCCS	MCCC2	GPC4	SLC25A1	ODAD4	MT-TL2	LIAS	GALK1	LRRC56	MCCC1	NDUFS6	NDUFAF1	SYNE2	LMNA	MADD	LAMA2	SMN1	AAAS	LARGE1	DNAH1	AGK	GLE1	TSFM	SLC25A24	ITGA7	BCHE	FUT8	SBDS	COX6A2	ABCA12	SLC18A3	ACADVL	MYH3	CFAP300	LYRM7	HLA-DPA1	C19orf12	MYH7	MYH11	CHRNB1	CHD7	MAP3K20	POMT1	COL11A1	RSPH3	TLR3	JAK2	GATA2	FCSK	MYD88	FGFR1	EFEMP2	RUNX2	HADHB	CCDC174	CISD2	KCNJ6	PON1	SOD1	MICOS13	TET2	FKTN	ATXN2	IFT172	GDNF	SMARCA2	LIG4	ABCA3	SLC27A4	DNAAF4	SMPD4	SLC5A7	SON	PLAGL1	BLM	CNTNAP1	EXOSC8	LRPPRC	PLP1	AGTR1	LTBP3	POMK	FLNB	TCOF1	NFASC	DLL3	PPARGC1A	CHCHD10	GFPT1	SLC26A4	ABCB11	SPOP	FLAD1	ATAD1	GAS2L2	PRTN3	PIK3CD	NUP88	CHRND	SYNE1	HLA-DPB1	EXOSC9	POLR1B	MTTP	COX7B	ATP8B1	MYBPC1	ACE	TUFM	CSF2RB	CDT1	EDN3	MCM4	PHYH	CFAP221	WDR35	GNPTAB	PLEC	NDUFA1	PRPH	NDUFB9	PLOD1	NDUFAF5	SLC25A3	IRF4	SNAP25	FKBP10	RRM2B	MGME1	RNASEH2A	INPPL1	TREM2	LBR	BOLA3	SURF1	TTC12	HADHA	OPTN	NR1H4	XYLT1	FAM20C	GAS8	DNAAF3	EXOC6B	SEC63	PAX7	NHLRC2	MYL1	SPEF2	PURA	MT-ND2	SARS2	ATXN1	LAMB2	DNAI1	VMA21	POMT2	LAMC2	CRLF1	PEX19	LFNG	PLEKHG5	NBN	CLCN6	MYMK	NOTCH2NLC	MYOT	DNAAF1	SLC34A2	GNB2	BSCL2	DAO	B3GALT6	FLNC	DYM	ASNS	TRAF7	HMBS	TTC21B	STK36	DPYD	DNAL1	FAT4	PEX10	PEX13	STAT2	GLT8D1	RSPH4A	PLCB3	AHCY	DNAH9	ORAI1	COL3A1	COL2A1	POGLUT1	ITGA3	GARS1	GMPPA	UBA1	KIT	CCDC103	HES7	NEFH	KIF22	SH3TC2	BMPER	ZC4H2	FOXI1	IFT80	SF3B4	SQSTM1	COG7	WDR19	DNAH11	SLC52A3	NME8	MLYCD	TRMU
HP_DYSPNEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSPNEA	TGFBR1	SLC25A4	MYO9A	AGRN	SFTPB	CDC6	MT-TE	XPNPEP2	MAPT	MAT2A	TNNT2	DPM2	TBX20	MT-ND3	HBB	CHRNE	SH2B3	COPA	NPPA	SUCLG1	APOB	NKX2-5	HCCS	KATNB1	KRT6B	LDLRAP1	PRRX1	SDCCAG8	SLC25A1	TWNK	MT-TK	SPP1	ZMPSTE24	OTX2	TET2	CCN2	COLQ	NABP1	COL1A2	MARS1	TGFBR2	EDN1	GBA	STT3B	CLCNKB	POLG	ACADVL	LMNA	ACADS	ERF	TBX4	SFTPA2	DSP	TSC1	EDA	SMAD3	TTN	SBDS	CAV1	PLEC	TERC	AIMP2	SCN5A	LDLR	CYB5R3	SLC25A3	GALC	SLC35A1	LGI4	ATP1A3	MYH11	LAMB3	TBK1	TGFB2	ALMS1	CACNA1A	MMACHC	IL1RN	GATA4	CHRNB1	IFT81	MYL2	DCTN1	POLG2	FGFR2	PCSK9	TRMT5	CHRNA1	GTPBP3	RAPSN	SCNN1B	GATA6	IFT52	CREBBP	MT-TW	CSPP1	NDUFAF3	NKX2-1	TUBB4A	ATP6V1B2	STN1	MATR3	SCO2	MT-ND1	ERGIC1	SCNN1G	ENG	DMPK	RUNX2	MRPL3	MYPN	ACADM	BCOR	ALDH7A1	KCNJ6	TP73	LONP1	ELN	USP9X	GMNN	PRKAR1A	PON1	FBP1	SOD1	SFTPC	COL4A6	DNASE1L3	CCR6	HLA-DRB1	ATXN2	NUP214	PRKG1	COL2A1	ABCA3	PML	PON3	SLC5A7	CNTNAP1	TSC2	BTNL2	ETFB	ATRX	DNAJB6	COL13A1	NEK1	PMM2	LTBP3	BMPER	ACTC1	SLC2A10	FOXP3	STAT4	ADCY6	ARX	ABCG8	PPARGC1A	MMUT	CHCHD10	PRRT2	GNAS	SMAD4	CRLF1	MMAA	RNF13	DNA2	FAM13A	AIFM1	C9orf72	SMAD2	FGFR1	SCN1B	MMAB	DNAJC21	GNAI3	TNNC1	SLC1A3	ANXA11	KIT	MT-ND6	CCNF	MYLK	EP300	MUC5B	COX7B	ANG	NPM1	FIP1L1	CSF2RB	HLA-DPB1	DISC1	DPP9	SMPD1	ORC6	HEY2	NDUFB11	PURA	STX16	CDT1	GLA	ETFA	VAPB	FLNC	TRIP11	ERBB4	UBQLN2	NDE1	ADAMTS13	ORC1	MOGS	MYBPC3	PRPH	ORC4	SOX9	JAK2	ETFDH	SNRPN	STAT3	CFTR	RRM2B	LYRM4	MGME1	TREM2	ASAH1	DOK7	VCL	TBC1D24	ABCC6	TRAK1	SERPINA1	SURF1	TERT	IRF5	LAMA3	OPTN	PSAP	VPS33A	LRP12	PUF60	SCN4A	SFTPA1	STAT5B	FAM20C	GYG1	CHMP2B	GLE1	FIG4	KRT6A	KIF20A	SNAP25	WAS	PRKCSH	IRAK1	KAT6A	NEMF	CASR	IDH1	POMT1	CHRND	ABCG5	PIGT	RTEL1	MFAP5	TRPM4	PFN1	DNAAF3	EOMES	GAA	MTM1	SYT2	TNNI3	SLC12A3	LAMB2	KLHL7	BMPR2	CHAT	PGM1	LAMC2	MUSK	MYL3	FOXF1	RPS26	HLA-B	PARN	PLCB4	SRP54	SETBP1	EPHA4	PNKD	DPM1	CITED2	SLC34A2	MGAT2	EPHB4	EIF2AK4	NDUFB8	ATP11A	DAO	TGFB3	TLL1	EPOR	ZIC3	TRPV6	CDC45	ZBTB16	PIGA	ALAS2	DSC2	CFAP410	MT-TL1	LIFR	ADNP	LOX	B3GALT6	VCP	BAP1	TAF15	IKZF1	KRT17	SIK1	RARA	NAGS	VAMP1	DYNC2LI1	MEGF10	COA8	KCNA1	NEB	LRP4	SCNN1A	SSR4	CPT2	EFTUD2	GLT8D1	ACTA2	PNPLA2	MPC1	COL4A5	SLC18A3	WIPF1	HNRNPA1	PON2	PYGM	FBN1	MT-TV	KRT16	MYH6	ENPP1	ITGA3	MT-ATP6	MT-TN	NGLY1	ZFPM2	UBE3B	FUS	NUMA1	TFG	BTD	ATP1A2	JPH2	MT-ND2	NOD2	BANF1	RPS28	MT-ND4	TBL1XR1	NEFH	DBH	FOXE3	COQ7	RELN	HLCS	IPO8	NDUFA8	IRF2BP2	TK2	CSF2RA	NDUFS2	UNC13A	MT-ND5	UBA1	AK9	ACVRL1	SQSTM1	PPP1R21	ISCU	CYB5A	SLC52A3	TARDBP	RNU4ATAC	DHX16	SERPING1	TRMU
HP_EMPHYSEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMPHYSEMA	SCNN1G	APC2	ELN	EFEMP2	ALDH18A1	GMNN	CDT1	NFKB1	SETD2	CD19	FLCN	CFTR	TNFRSF13C	NFKB2	FBLN5	DNASE1L3	SERPINA1	BTNL2	FBN1	FARSB	TNFRSF13B	DYNC2LI1	TAP1	SCNN1A	ABCA3	RHOH	TGFB2	IPO8	MGP	TSC2	NDUFAF6	SPINK5	CARD10	MS4A1	EVC	TSC1	CR2	LMNA	COL3A1	ICOS	SON	EVC2	PRKCD	SCNN1B	GLI1	GLA	TAPBP	TAP2	TNFSF12	CD81	HLA-DRB1	LTBP1	LTBP4	NSD1
HP_RESPIRATORY_DISTRESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESPIRATORY_DISTRESS	ORC1	MOGS	MYO9A	AGRN	ORC4	CDC6	MT-TE	SOX9	PURA	XPNPEP2	MAPT	ETFDH	DPM2	SNRPN	LYRM4	MT-ND3	ASAH1	TBC1D24	ABCC6	SCO2	TRAK1	SURF1	LAMA3	PSAP	SUCLG1	VPS33A	ABCA3	LRP12	HCCS	KATNB1	KRT6B	PUF60	PRRX1	SDCCAG8	SLC25A1	FAM20C	OTX2	KRT6A	COLQ	SNAP25	FGFR2	EDN1	KAT6A	GBA	NEMF	STT3B	CLCNKB	ACADVL	IDH1	POMT1	ACADS	ERF	DNAAF3	EOMES	GAA	MTM1	SYT2	TSC1	SLC12A3	EDA	LAMB2	KLHL7	SBDS	AIMP2	CHAT	LAMC2	SLC25A3	GALC	SLC35A1	LGI4	ATP1A3	LAMB3	FOXF1	ALMS1	CACNA1A	RPS26	MMACHC	SFTPB	PLCB4	SRP54	IL1RN	NKX2-1	SETBP1	IFT81	DPM1	MGAT2	EPHB4	NDUFB8	GATA6	IFT52	CREBBP	MT-TW	NDUFAF3	ZIC3	TRPV6	CDC45	TUBB4A	ATP6V1B2	MT-ND1	ERGIC1	MT-TL1	DMPK	RUNX2	LIFR	ADNP	CHRNE	B3GALT6	ALDH7A1	TP73	LONP1	BAP1	KRT17	SIK1	USP9X	GMNN	NAGS	VAMP1	FBP1	DYNC2LI1	MEGF10	KCNA1	NUP214	SSR4	TRIP11	COL2A1	CPT2	EFTUD2	SLC5A7	CNTNAP1	MT-TK	MPC1	TSC2	ETFB	SLC18A3	COL13A1	PMM2	MT-TV	KRT16	BMPER	ENPP1	SLC2A10	FOXP3	ITGA3	MT-ATP6	MT-TN	ADCY6	NGLY1	ZFPM2	UBE3B	MMUT	BTD	ATP1A2	MT-ND2	MMAA	RNF13	SFTPC	AIFM1	FGFR1	RPS28	MT-ND4	MMAB	DNAJC21	GNAI3	COQ7	RELN	SLC1A3	HLCS	MT-ND6	NDUFA8	EP300	COX7B	TK2	CSF2RA	NDUFS2	STAT5B	CSF2RB	MT-ND5	UBA1	DISC1	PPP1R21	NDUFB11	CDT1	ETFA	SLC52A3	NDE1	ORC6	DHX16	SERPING1	ADAMTS13	TRMU
HP_ASTHMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASTHMA	TGFB1	ALMS1	GAS1	LIFR	COMT	FGF8	FCGR2A	TBX21	CCDC28B	MTOR	IFT172	HNMT	TBX1	USP7	ARSL	GTF2H5	SCN4A	TDGF1	IGF2	UNC45A	DOCK8	LIG4	IL4R	IGKC	PGM3	TTC26	SIK3	SLC27A4	IL13	ZIC2	TALDO1	CCL11	PEX5	ODC1	VPS51	CREBBP	CARD10	SCGB3A2	HMGA2	CDSN	NODAL	TGIF1	CARD11	FGFR1	LMX1B	TNF	PLA2G7	ARVCF	GRHL2	IGHG2	PLCG2	FOXH1	UFD1	BBS1	ERCC2	MUC7	ZNF699	CDKN1C	TRAIP	CASP8	CFTR	JMJD1C	SPINK5	PLAG1	WAC	TBCK	BCL11B	PTGER2	NEK9	HIRA	ALOX5	ARL6	EP300	PTCH1	JAK1	NOD2	MS4A2	SIX3	ADA	GP1BA	IPO8	MIA3	NKX2-1	GLI2	CDON	SDHD	GP1BB	STXBP1	SUFU	NSUN2	GNB2	SHH	HLA-G	NFKB2	FLG	DLL1	ELOVL4	SEC24C	ALG9	GP9	RREB1	IDS	PEPD	ODAD3	ADRB2	DDX41	COX4I2	AFF4	DISP1	RIC1	LRBA	CARMIL2
HP_RECURRENT_ASPIRATION_PNEUMONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_ASPIRATION_PNEUMONIA	NHLRC1	SLC25A24	KMT2D	IGBP1	NOS1	GIPC1	CSPP1	PIGN	NFIX	EPM2A	KIAA0586	LONP1	PIK3CD	KNSTRN	ASAH1	KDM6A	PDHA1	NTRK1	HLA-DQA1	CRLF1	NOTCH2NLC	HLA-DQB1	GBA	SP110	MID1
HP_ABNORMAL_LUNG_LOBATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LUNG_LOBATION	TBX1	PUF60	GPC4	TRIP13	COMT	GDF1	DHCR7	PLXND1	HIRA	WT1	FREM2	GLI3	GPC3	BUB1B	NKX2-6	RSPO2	HYLS1	ARVCF	SEC24C	ALG9	EMG1	RREB1	BUB3	GRIP1	CEP57	CHUK	FOXF1	GP1BB	FANCB	UFD1	NODAL	BUB1	LBR	WNT3	PTEN	AKT1	FRAS1	PIGT	JMJD1C
HP_PLEURITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PLEURITIS	HLA-B	IL12A-AS1	CTLA4	FCGR2A	IL12A	CCR1	ERAP1	IFNGR1	MEFV	IRF4	PTPN22	IL23R	C4A	PRTN3	TLR4	DNASE1	FCGR2B	HLA-DPA1	TNFRSF1A	IL10	FAS	NOD2	STAT4	UBAC2	HLA-DPB1	KLRC4	TREX1
HP_ABNORMAL_PLEURA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PLEURA_MORPHOLOGY	FSHR	BCL6	PTPN22	LACC1	IL12A-AS1	CTLA4	ENG	EFEMP2	TGFBR1	FCGR2A	IL12A	LOX	B3GALT6	DICER1	CFH	ITK	IRF4	MAT2A	BRAF	PRSS1	BCL2	MEFV	KEAP1	BAP1	ELN	HLA-B	DDR2	IKZF1	NR1H4	TLR4	FCGR2B	DNASE1L3	CFTR	FAT4	FOXF1	BTNL2	IL10	SEMA4D	LAMA3	PIEZO1	TCF4	DZIP1L	PRKG1	ADAMTS3	CD46	TNFRSF1A	CLPB	FBLN5	EXT1	VPS51	ACTA2	CARD10	ERAP1	SERPINF2	HELLPAR	TSC1	SFTPB	SPP1	CD28	LZTR1	HFE	EXT2	COL3A1	CFI	CHST14	ADAMTS2	TGFBR2	IRAK1	RASA1	FLCN	DEF6	SPINK1	LBR	CCBE1	LTBP1	STAT4	FBN1	UBAC2	MFAP5	STAT6	SLC25A24	CYBC1	BMP2	HLA-DRB1	SMAD3	IFNGR1	EPHB4	CCND1	PLVAP	SMAD4	GUSB	PTPN11	GPR35	SFTPC	TAPT1	LAMC2	CBL	C4A	MAP2K1	TNFRSF1B	ATP6V1E1	PRTN3	SMAD2	DNASE1	LYST	MST1	RIT1	HLA-DPA1	HRAS	NOD2	DSE	LAMB3	TGFB2	FOXE3	ABL1	IPO8	KIF11	HLA-DPB1	KLRC4	TREX1	IL6	MIF	TSC2	MYLK	GPKOW	P4HA2	SOX18	ZNFX1	SLC34A2	CCR1	EIF2AK4	TGFB3	ELP1	ALG14	IL23R	HEY2	CALCRL	NAB2	PRSS2	CTRC	MYH11	FAS	MYD88	PKHD1
HP_APNEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APNEA	RERE	ACY1	UNC80	ACADSB	MECP2	TMEM237	MYO9A	AGRN	SFTPB	MYO1H	CEP120	PRNP	FLCN	BRAT1	NDN	NDUFA13	PDHA1	SHH	KCNQ2	ATP5F1A	MT-ND3	SNRPN	HSPG2	ARSL	LARP7	TGIF1	CEP41	SUCLG1	TMEM67	AHDC1	FAM149B1	RUNX2	WFS1	AMER1	IDUA	AHI1	SATB2	NDUFA10	MTHFR	RBM10	LIFR	SLC25A1	GRIK2	NDUFS2	CTSD	LIAS	PRMT7	TECPR2	TWIST1	CDON	FOXRED1	SLC5A7	FOXH1	SURF1	FGF8	FGFR1	BCHE	COLQ	ARMC9	GPR101	EDN1	TMEM216	SLC6A9	NEK1	TDGF1	NADK2	CA2	NALCN	SLC18A3	CTNNB1	BUB1B	NTNG1	STIL	NDUFS4	SKI	PET100	ATP1A3	SIX3	PIBF1	HRAS	CACNA1A	TMEM107	MKRN3	D2HGDH	PTCH1	TOPORS	MAGEL2	NDUFAF2	ZIC2	NPHP1	BTD	SMC1A	POGZ	TSEN54	CSPP1	SYT1	DISP1	KIAA0586	NPAP1	CREBBP	MT-TW	NDUFAF3	CEP57	HMGCL	RPGRIP1L	OCA2	NDUFS8	MT-ND1	IDS	ASXL1	KAT6B	PLAA	NDUFV2	CISD2	NDUFA4	FBP1	NGLY1	OFD1	NDUFA9	INPP5E	KCNQ3	PRR12	KCNJ11	KIAA0753	CEP104	SLC6A5	PCCB	COQ2	TOE1	PEX5	MT-TK	FGFR3	GAS1	CDKL5	COL13A1	PI4KA	NDUFA12	LRPPRC	LTBP3	CRYAB	DLL1	SNX10	PLPBP	GNE	NODAL	DST	RAI1	PCCA	DCTN1	FXR1	DNA2	EP300	GBA	KIF5A	TCF4	MKS1	BUB1	MED27	GNAI3	NDUFS7	SLC1A3	SNORD115-1	PTF1A	MT-ND6	ARL13B	LRRC32	TMEM138	TSPYL1	TRIP13	ADGRG1	GPHN	SCN8A	NDUFA2	ECHS1	GABBR2	SNORD116-1	AFF4	RPS6KA3	SLC19A3	SRPX2	COX15	SCN2A	FGFR2	GNPTAB	TCTN2	MOGS	SOX9	PURA	AIP	PRPS1	HSPD1	SCO2	RARS2	CTSK	STAG2	C2CD3	TERT	OPA1	CC2D2A	GSN	ABCA3	NDUFAF5	CEP290	TRPV4	FGF13	VPS51	CPLANE1	NEFH	SPOP	PEX13	PCK1	SLC25A20	TCTN1	ARCN1	USP7	GLI2	SNAP25	SCN5A	PHOX2B	ALPL	DPAGT1	RNF125	NDUFV1	MINPP1	DDB1	PLA2G6	TACO1	PIGT	AP3D1	NONO	DKK1	SYT2	LAMB2	NACC1	CHAT	TSEN34	BMP2	FBN1	TSEN15	MCCC1	CLCN7	SCN4A	SEPSECS	DDC	PLCB4	GUSB	TNFSF11	B9D1	FARS2	NDUFB8	GNB2	NDUFS1	BUB3	PWAR1	EXOC2	MT-TL1	CHRNE	NEB	NDUFAF6	PRPH	NFIX	NDUFS3	CCDC47	ZNF423	VAMP1	GABRG2	TSEN2	SDHA	PRRT2	SCO1	ASCL1	STAT2	KATNIP	CBY1	CPT2	SIM1	KIF7	LIPT1	COL3A1	MTFMT	PSAP	HTRA2	ARL3	LBX1	MT-TV	SOD1	MT-ATP6	P4HTM	TCTN3	SH3BP2	PCGF2	NDUFA11	PDE6D	HYLS1	ATP1A2	MT-ND2	HERC2	DPH1	TCIRG1	BRAF	GLUL	SUFU	SLC39A8	MT-ND4	PWRN1	RET	ATN1	TBR1	GLRA1	GRIN2A	TMEM231	ZC4H2	ZMYM2	FUZ	MT-ND5	SLC2A1
HP_HEMOPTYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMOPTYSIS	TGFB1	SCNN1G	IL12A-AS1	COL5A1	ENG	TGFBR1	IL12A	TSC1	LOX	SMAD3	IFNGR1	MEFV	FCGR2A	HLA-B	MAT2A	SMAD4	ELN	CFTR	C4A	PRTN3	TLR4	SMAD2	CTLA4	IL17RA	F5	DNASE1L3	CLEC7A	BTNL2	HLA-DPA1	IL10	HLA-DRB1	TGFB2	FOXE3	ACVRL1	SCNN1A	COL5A2	PRKG1	HLA-DPB1	KLRC4	TSC2	MYLK	ACTA2	SLC34A2	CCR1	ERAP1	EIF2AK4	GDF2	TGFB3	COL3A1	IL17RC	IL23R	HEY2	SCNN1B	TGFBR2	IL17F	MYH11	FAS	TRAF3IP2	TLL1	MLX	IL12B	STAT4	FBN1	UBAC2	GIMAP5	PTPN22	MFAP5
HP_PNEUMOTHORAX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PNEUMOTHORAX	SLC25A24	EFEMP2	TGFBR1	LOX	B3GALT6	SMAD3	FLCN	MAT2A	SMAD4	ELN	SFTPC	LAMC2	DDR2	ATP6V1E1	SMAD2	CHST14	BTNL2	HRAS	LAMA3	DSE	LAMB3	TGFB2	FOXE3	ABL1	DZIP1L	PRKG1	IPO8	TSC2	MYLK	CLPB	FBLN5	EXT1	ACTA2	SLC34A2	TSC1	SFTPB	TGFB3	COL3A1	EXT2	HEY2	ADAMTS2	TGFBR2	MYH11	HLA-DRB1	LTBP1	FBN1	MFAP5	PKHD1
HP_SPONTANEOUS_PNEUMOTHORAX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPONTANEOUS_PNEUMOTHORAX	COL3A1	ADAMTS2	TGFBR2	DZIP1L	FLCN	SFTPC	PKHD1	SFTPB
HP_BRONCHIECTASIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRONCHIECTASIS	HYDIN	ELN	ZMYND10	DRC1	ALDH18A1	ICOS	CCDC40	FCGR2A	CD8A	RIPK1	POLA1	PIK3CD	CD19	TET2	CFTR	IL6ST	PIK3R1	CD79A	ODAD2	DNAAF2	ZNF341	TTC12	BTNL2	TNFRSF13B	BLNK	TCF3	TAP1	CFAP298	IGKC	PGM3	SCNN1B	STX3	IRF8	ODAD4	CARD10	LRRC56	SFTPA1	GAS8	MPEG1	TNFRSF13C	CXCR4	RSPH1	DNAAF3	NFKB2	BACH2	DNAI1	OFD1	TAPBP	UNC119	TNFSF12	ABCA3	FOXJ1	SPEF2	RTEL1	DNAH1	SFTPA2	DNAAF1	DSP	LRRC8A	IGHM	RSPH3	MCIDAS	NFKB1	TERC	TPP2	RSPH9	CFAP300	SPAG1	SCNN1G	DNAAF6	PARN	CR2	DNAH5	ODAD3	SLC34A2	STAT1	ATP11A	GAS2L2	DNAJB13	IGLL1	LRBA	CD79B	CARMIL2	CCNO	STN1	TGFB1	TP73	DNAAF4	SLC41A1	CCDC39	STK36	DNAAF11	ODAD1	DNAL1	MAGT1	RASGRP1	CTLA4	SCNN1A	DNAI2	TERT	MS4A1	DNAAF5	RPGR	RSPH4A	NCKAP1L	DNAH9	CCDC65	RAC2	IGHG2	NEK10	CD81	ATM	SYK	BLM	NBN	SFTPC	FAM13A	IL21R	CCDC103	LAT	FBLN5	IRF9	ARHGEF1	SLC29A3	MUC5B	B2M	WDR1	DPP9	PRKCD	DNAH11	DNMT3B	TAP2	HLA-DRB1	NME8	RIN2	CFAP221
HP_PULMONARY_INFILTRATES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_INFILTRATES	IFNGR1	FASLG	IL12A-AS1	IL12A	FAS	MEFV	LPIN2	SLC41A1	PRKCD	C4A	ASAH1	PRTN3	TLR4	CTLA4	CCR6	RASGRP1	IRF5	HLA-DPA1	IL10	APOE	HLA-DPB1	BIRC3	KLRC4	HLA-B	TSC2	SLC34A2	CCR1	ERAP1	RAB27A	TSC1	SFTPB	FOXP1	CAV1	IL2RA	PDGFRA	BACH2	BTNL2	SMPD1	IL23R	CASP10	CCN2	BCL10	HLA-DRB1	UBA1	GBA	NKX2-1	STAT4	UBAC2	PTPN22	MYD88	MALT1
HP_ABNORMAL_CEREBRAL_VENTRICLE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CEREBRAL_VENTRICLE_MORPHOLOGY	RERE	NDE1	LMNB2	FKTN	OFD1	NOTCH2NLC	ZEB2	TBCE	RTEL1	DCC	TIMMDC1	CACNA1I	B3GALNT2	CCDC40	RTTN	TBCK	NDN	HYLS1	CDKN1C	RAC3	GPC3	COX7B	CDC42	TAF2	TCIRG1	SUMF1	FANCC	SNRPN	CEP120	TGIF1	CEP41	TNNI3	PIEZO2	TSC2	ATXN1	TMEM67	UNC45A	ERCC3	FANCF	PNKP	MTHFR	ERCC4	TTC26	FANCD2	MAB21L1	MYORG	ODC1	FH	TUBG1	SMARCE1	B9D1	WDR4	ZIC3	CDON	RSPH1	ERBB4	CC2D2A	ERCC5	MYT1L	FGFR1	STIL	TRAF7	TSC1	BICD2	ESCO2	STRADA	SHPK	CILK1	SLC6A9	FRAS1	TERT	FOXJ1	IFIH1	SLC20A2	RNU7-1	SMC3	CHST3	RAC1	MBTPS2	MED25	KATNB1	NAA10	NRAS	TPRKB	PUS3	TXN2	SMARCB1	GLI3	CRPPA	SIN3B	CTNNB1	DNMT1	ATP6V1A	MAD2L2	KIDINS220	SHANK3	FANCA	ALG3	SKI	KMT2C	CLCN3	SMARCA4	SMC1A	TGFBR1	FANCB	FKRP	SIX3	SPTBN1	KNSTRN	FGFR3	HRAS	AP4E1	RSPH9	COPB2	DHX37	RAB3GAP1	FAM20C	RAI1	MMACHC	SMOC1	DYNC2I1	D2HGDH	CHAMP1	FLNA	PTCH1	DEAF1	PLG	MAGEL2	ODAD3	ZIC2	MTHFS	HDAC6	TARS1	ATXN3	WDR62	ARID1B	GLB1	TSEN54	CSPP1	DISP1	DNAJB13	MDM2	NPAP1	PDGFB	DHCR7	TGFBR2	PPP1R12A	PIGN	CEP57	NPHP3	RPS6KA3	DYRK1A	FTO	FIG4	OCA2	ZPR1	PIK3CA	FAR1	GRIN1	PDHX	ZIC1	ADGRG1	PIK3CD	KDM6A	LONP1	RAD21	PLAA	PIK3R2	HCCS	POMGNT1	DNAH5	TMX2	FGFR2	ADAR	DNAAF11	TBX1	C2CD3	ACTA2	SPAG1	ODAD1	CIT	DNMT3B	FAM111A	DHX30	NGLY1	INPP5E	COG8	MCPH1	PAX6	UBE3B	SIK3	PPP3CA	TMEM138	PIGB	CEP104	BRD4	FGF8	RNF113A	RAB18	NSD1	SET	SMARCD1	DOCK6	HIBCH	HELLS	OTUD5	CSGALNACT1	SNIP1	GLI2	ROGDI	CCDC65	TGDS	B4GALT1	GAS1	ERCC6	POMK	EMG1	USP18	LMBR1	PMM2	FANCE	MSL3	ARX	DLL1	SPATA5L1	FLI1	VPS13A	SNX10	SETD1B	PLPBP	FLVCR2	CTSC	TUBA1A	PYCR2	SOX9	FOXRED1	TUBGCP2	EP300	TUBB2B	TAPT1	PPP1CB	GBA	L1CAM	PTDSS1	TMEM107	OSGEP	MKS1	COL18A1	PDHA1	RAB11A	GON7	SNORD115-1	PIGU	DLL4	LRRC32	SLC29A3	PAFAH1B1	POMT2	B4GAT1	WDR81	NFIA	TRIP13	PGAP1	PSAT1	PTEN	ATP1A1	YARS1	TAF1	VANGL1	PIGQ	AHI1	DISC1	RAD51	CLCN4	XRCC2	NDUFB11	THOC6	IFT172	ACTB	CCND2	RNASEH2A	KIAA0753	HTT	FARS2	BRCA1	ACP5	MYOD1	TUBA8	OCRL	TCTN2	TNFRSF11A	ZMYND10	DRC1	HDAC8	AKT3	KDM4B	SOX2	MTOR	ZBTB24	EBP	KIF1A	CTCF	SCO2	CTBP1	STAG2	OSTM1	GABBR2	NUP188	PRKAR1A	NIPA1	ZMIZ1	GNAS	TMEM216	ALG12	TBC1D24	PRKCZ	VPS51	MC1R	DCHS1	CENPF	RAPSN	DDX3X	CPLANE1	WARS2	CTDP1	TMEM237	COX16	ZNF148	TP53	FANCI	IDUA	AP4B1	KNL1	ANTXR1	SEMA3E	PHACTR1	TNPO2	PPP2R1A	PPP2R5D	LARGE1	CUL4B	UFD1	SEC24D	CPT2	RNF213	EML1	BRAF	ATXN2	COL3A1	HIRA	MCIDAS	CEP290	METTL5	PALB2	KCNAB2	ERCC8	SF3B4	CIC	TSEN15	WASHC5	CLCN7	FANCG	NBEA	DSE	VPS11	RPGRIP1L	VPS37A	HERC1	SMO	SETBP1	SUFU	PDPN	SHH	TDGF1	GJB2	NOTCH1	NDUFB8	TRIM71	NSUN2	TBXT	MUSK	NDUFA6	SEC24C	CDCA7	ERCC2	PIGG	ALDH7A1	TRIM37	TMEM231	NODAL	DNAAF6	FBN1	RFWD3	B9D2	APC2	AFF3	TBC1D2B	POR	HSPG2	CPLX1	ASPM	GMPPB	NIPBL	RSPO2	SPEN	KIAA0586	MAP2K1	ZNF423	USP7	FOXF1	CCDC39	CCNO	CEP83	OCLN	KATNIP	PHGDH	CRB2	SLX4	UGDH	TUBB	DNAAF5	NIPA2	RPGR	SIN3A	ASXL2	KIAA1109	HEPACAM	TRPV4	ALG13	BAP1	WDR45B	TCTN3	NEU1	MAN2B1	HTRA2	NOTCH2	MFSD2A	ERMARD	TXNDC15	MTM1	DNAI2	CCDC88C	CNNM2	MPDU1	KAT8	NDUFS2	KRAS	CCDC22	SLC13A5	CEP152	PARN	DKC1	POMT1	HERC2	UBE2T	TRAPPC12	KCNQ5	DENND5A	GLUL	PDHB	TAOK1	CHST14	COX20	SPG11	ARL3	C12orf57	ZNF292	ASXL3	SLC35A2	MOCS2	KCNQ1	SEC31A	NFIX	GPC4	TINF2	COL4A2	NDUFA8	FUZ	NEK10	GPSM2	MED12	GFAP	SON	BRSK2	MFN2	B3GLCT	SYNGAP1	WDR73	NEK1	DAG1	RREB1	IQSEC2	ATP6AP2	MOCS1	EXTL3	NCAPD3	ARSI	TRAPPC6B	GJB6	OTUD6B	KLHL15	HYDIN	CHD3	YIPF5	COMT	CLIC2	HK1	KANSL1	DPM1	CCDC88A	CDH15	TBCD	DNAAF2	LMNB1	KCNQ1OT1	ZNHIT3	ERF	KRT5	YY1	TUBB2A	PEX19	AMER1	CEP63	MPLKIP	LAMB1	GRIK2	ODAD4	LRRC56	ARHGAP31	GRN	FOXH1	RRAS2	CACNG2	DNAI1	GTF2E2	ARMC9	EIF2S3	JAM3	NADK2	FANCL	RNASEH2C	PTCH2	DNAH1	MID1	TSFM	ZSWIM6	CHD4	SLC25A24	WAC	CAMK2B	RHOBTB2	RECQL4	OGDH	HNRNPU	BUB1B	ZMYND11	SUCLA2	GCDH	SMG9	TRPM3	CFAP300	TRNT1	CCL2	ASH1L	ARID1A	COL4A1	AP4M1	MKRN3	WDR26	POMGNT2	SLC17A5	SOX11	NPHP1	PIGV	PRDM16	CHD7	DIAPH1	KIF14	IFNG	VPS53	SLC2A1	PRNP	NSD2	BRF1	NDUFAF3	EHMT1	AMPD2	PDE2A	ATP6V1B2	PDGFRB	ASXL1	GFM2	PEX10	CCDC174	MRE11	POLR2A	PRICKLE2	USP9X	CENPJ	KIF7	FBP1	CAMK2A	TMTC3	LIG4	PRDX1	GRM1	DNAAF4	BICRA	DOK7	MYMK	ISCA1	TMCO1	BMP4	CASK	CDC40	STAC3	MAG	CHEK2	MEF2C	KRT14	RASA1	DYNC1H1	ZBTB11	ZBTB20	RAD51C	TCTN1	TRAIP	PCNT	KDM5B	EVC	DNMT3A	FLII	PTPN23	EPHB4	PMPCA	KAT6B	GAS2L2	SASS6	NUP88	COG6	PEX1	COG5	CLTC	DHCR24	BUB1	ODAD2	ZNF462	ARL13B	CSNK2B	ARSB	ANKRD11	TMEM222	NEXMIF	PIGO	PYCR1	SATB1	RNASET2	NF1	ATP6V0A2	BRCA2	DYNC2H1	ANKLE2	TRPS1	GP1BB	SNORD116-1	WASF1	AP1S2	YWHAE	CFAP221	BCOR	WDR35	LAMA1	EOGT	ARID2	IRF4	ALG8	XRCC4	HBA1	TSEN2	MT-CYB	FBXW11	SURF1	TTC12	CYFIP2	IGF2	MT-ATP6	LAGE3	KCNK4	GNAQ	VPS33A	SLC12A6	RXYLT1	CFAP298	VAC14	HSD17B4	CEP135	PIBF1	GAS8	NF2	GALC	DNAAF3	UBE4B	VSX1	CSF1R	BMP2	ARVCF	CDK6	DCX	CREBBP	HUWE1	RNF125	IDH1	MINPP1	UBTF	MPDZ	AKT1	SPEF2	NUP107	ZNF699	EOMES	INTU	RNASEH2B	SOX4	TBL1XR1	TREM2	RSPH3	MED12L	SETD2	SMARCC2	TSEN34	MBD5	SAMD9	HBA2	EGF	NANS	SLC25A1	TET3	MAST1	XPR1	VANGL2	SEPSECS	CUX1	KIRREL3	TUBB3	CYP26C1	SHOC2	TCF4	MMP23B	POLR3A	IFT43	GUSB	DNAAF1	EXT1	TNFSF11	GTF2H5	TRAPPC14	EPB41L1	GNB2	HS6ST2	RPGRIP1	ACD	GNAO1	PORCN	BUB3	ACTG1	PWAR1	WNT3	ASNS	SAMHD1	EXOC2	QARS1	MAF	FANCM	ADNP	B3GALT6	FGFRL1	MTRR	FAT4	THOC2	SPECC1L	OPHN1	STK36	FOXP3	COX6B1	DPH1	MAP2K2	PPP2CA	BRIP1	DNAL1	EXOC8	NCAPG2	HIVEP2	DPF2	DYNC2I2	KDM1A	HECW2	CBY1	B3GAT3	TP53RK	NUP133	SIM1	CELF2	RSPH4A	P4HB	GRIN2B	AHCY	EEF1A2	DNAH9	PUF60	CLP1	TYROBP	PSAP	CASZ1	EVC2	SLC18A3	SLC9A6	ZNF335	TAF13	JMJD1C	COX8A	SLC25A19	SH2B1	LETM1	ATP6V1E1	KMT2D	CCDC103	SLC39A8	LUZP1	MRPS16	TBX15	PWRN1	DOCK8	CDKN2A	EZH2	CFAP43	PHC1	SHMT2	GABRD	DPYSL5	CDK5RAP2	IFT80	PAK3	PPP1R21	IDS	KANK1	DNAH11	KIFBP	RBPJ	JAM2	NME8	TREX1	ALG2	BGN	ZC4H2
HP_VENTRICULOMEGALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENTRICULOMEGALY	RERE	NDE1	LMNB2	FKTN	OFD1	NOTCH2NLC	ZEB2	TBCE	RTEL1	TIMMDC1	CACNA1I	B3GALNT2	CCDC40	RTTN	TBCK	NDN	CDKN1C	RAC3	CDC42	SUMF1	FANCC	SNRPN	CEP120	TNNI3	ATXN1	ERCC3	FANCF	PNKP	MTHFR	ERCC4	TTC26	FANCD2	MAB21L1	MYORG	ODC1	TUBG1	B9D1	RSPH1	ERBB4	MYT1L	STIL	BICD2	STRADA	SHPK	CILK1	SLC6A9	TERT	IFIH1	SLC20A2	RNU7-1	SMC3	RAC1	MED25	KATNB1	NAA10	NRAS	TPRKB	PUS3	SMARCB1	GLI3	CRPPA	SIN3B	DNMT1	ATP6V1A	MAD2L2	KIDINS220	SHANK3	FANCA	ALG3	KMT2C	SMARCA4	SMC1A	FANCB	FKRP	SPTBN1	KNSTRN	HRAS	AP4E1	RSPH9	COPB2	RAB3GAP1	RAI1	DYNC2I1	D2HGDH	CHAMP1	DEAF1	PLG	MAGEL2	ODAD3	MTHFS	TARS1	ATXN3	WDR62	ARID1B	GLB1	TSEN54	CSPP1	DNAJB13	NPAP1	DHCR7	PIGN	CEP57	NPHP3	RPS6KA3	DYRK1A	FTO	OCA2	FAR1	GRIN1	ZIC1	ADGRG1	PIK3CD	KDM6A	LONP1	RAD21	PLAA	POMGNT1	DNAH5	TMX2	PIK3CA	ADAR	DNAAF11	C2CD3	PDHX	ACTA2	SPAG1	ODAD1	CIT	DHX30	NGLY1	COG8	MCPH1	PAX6	UBE3B	FGFR2	PPP3CA	TMEM138	PIGB	BRD4	RNF113A	RAB18	NSD1	SET	SMARCD1	HIBCH	OTUD5	CSGALNACT1	SNIP1	ROGDI	CCDC65	TGDS	B4GALT1	POMK	EMG1	USP18	PMM2	FANCE	MSL3	ARX	SPATA5L1	FLI1	VPS13A	SETD1B	PLPBP	FLVCR2	TUBA1A	PYCR2	SOX9	FOXRED1	TUBB2B	TAPT1	GBA	ZIC2	L1CAM	TMEM107	OSGEP	COL18A1	PDHA1	RAB11A	TMEM67	GON7	SNORD115-1	LRRC32	PAFAH1B1	POMT2	B4GAT1	WDR81	MKS1	NFIA	TRIP13	PGAP1	PSAT1	ATP1A1	YARS1	TAF1	PIGQ	AHI1	DISC1	CLCN4	XRCC2	THOC6	IFT172	ACTB	CCND2	RNASEH2A	KIAA0753	HTT	FARS2	BRCA1	ACP5	MYOD1	OCRL	TNFRSF11A	ZMYND10	DRC1	HDAC8	MTOR	INPP5E	EBP	KIF1A	CTCF	SCO2	CTBP1	MBTPS2	TCTN2	GABBR2	NUP188	NIPA1	ZMIZ1	TMEM216	ALG12	TBC1D24	PRKCZ	VPS51	DCHS1	RAPSN	DDX3X	WARS2	CTDP1	TMEM237	COX16	ZNF148	AP4B1	KNL1	ANTXR1	SEMA3E	PHACTR1	TNPO2	PPP2R1A	PPP2R5D	LARGE1	CUL4B	CPT2	RNF213	EML1	ATXN2	COL3A1	MCIDAS	CEP290	METTL5	PALB2	KCNAB2	FGFR1	CIC	HYLS1	TSEN15	WASHC5	FANCG	NBEA	DSE	VPS11	RPGRIP1L	VPS37A	HERC1	SMO	SETBP1	PDPN	GJB2	NDUFB8	TRIM71	NDUFB11	NDUFA6	ERCC2	ALDH7A1	TRIM37	TMEM231	DNAAF6	RFWD3	B9D2	APC2	AFF3	TBC1D2B	DLL1	HSPG2	CPLX1	ASPM	NIPBL	SPEN	KIAA0586	USP7	FOXF1	CCDC39	CCNO	GMPPB	OCLN	PHGDH	FOXJ1	CRB2	SLX4	UGDH	TUBB	DNAAF5	NIPA2	RPGR	SIN3A	ASXL2	KIAA1109	HEPACAM	WDR45B	TCTN3	HTRA2	MFSD2A	TXNDC15	DNAI2	CCDC88C	CNNM2	MPDU1	KAT8	NDUFS2	KRAS	CCDC22	SLC13A5	CEP152	PARN	DKC1	POMT1	HERC2	UBE2T	TRAPPC12	KCNQ5	DENND5A	GLUL	PDHB	TAOK1	CHST14	PTCH1	COX20	SPG11	C12orf57	ZNF292	ASXL3	SLC35A2	MOCS2	KCNQ1	SEC31A	NFIX	GPC4	TINF2	COL4A2	NDUFA8	FUZ	NEK10	GPSM2	MUSK	MED12	SON	BRSK2	B3GLCT	SYNGAP1	NEK1	DAG1	IQSEC2	ATP6AP2	MOCS1	EXTL3	NCAPD3	TRAPPC6B	GJB6	OTUD6B	KLHL15	HYDIN	CHD3	YIPF5	RAD51	HK1	KANSL1	DPM1	CCDC88A	CDH15	FGFR3	TBCD	DNAAF2	LMNB1	KCNQ1OT1	ZNHIT3	KRT5	YY1	TUBB2A	CEP63	MPLKIP	GRIK2	ODAD4	LRRC56	ARHGAP31	GRN	RRAS2	CACNG2	GTF2E2	ARMC9	EIF2S3	JAM3	NADK2	FANCL	RNASEH2C	DNAH1	MID1	TSFM	ZSWIM6	CHD4	WAC	AKT3	CAMK2B	RHOBTB2	OSTM1	HNRNPU	BUB1B	ZMYND11	SUCLA2	WDR73	GCDH	SMG9	TRPM3	CFAP300	ASH1L	ARID1A	COL4A1	AP4M1	MKRN3	WDR26	POMGNT2	SOX11	PRDM16	CHD7	DIAPH1	KIF14	SMARCE1	VPS53	PRNP	NSD2	BRF1	NDUFAF3	EHMT1	AMPD2	FANCI	PDE2A	ATP6V1B2	GPC3	PDGFRB	ASXL1	GFM2	CCDC174	MRE11	POLR2A	PRICKLE2	USP9X	PTEN	CENPJ	KIF7	FBP1	CAMK2A	TMTC3	GRM1	DNAAF4	DOK7	MYMK	ISCA1	TMCO1	BMP4	CASK	STAC3	MAG	MEF2C	KRT14	DYNC1H1	ZBTB11	RAD51C	TCTN1	TRAIP	PCNT	KDM5B	EVC	DNMT3A	FLII	PTPN23	PMPCA	PPP1CB	GAS2L2	SASS6	NUP88	COG6	COG5	CLTC	DHCR24	BUB1	ODAD2	ZNF462	CSNK2B	ANKRD11	NEXMIF	SKI	PIGO	CC2D2A	SATB1	RNASET2	ATP6V0A2	BRCA2	DYNC2H1	ANKLE2	TRPS1	SNORD116-1	WASF1	AP1S2	YWHAE	CFAP221	BCOR	WDR35	LAMA1	ARID2	ALG8	XRCC4	TSEN2	FBXW11	SURF1	TTC12	CYFIP2	IGF2	MT-ATP6	PDGFB	KCNK4	RXYLT1	CFAP298	HSD17B4	CEP135	GAS8	DNAAF3	UBE4B	CSF1R	BMP2	CDK6	DCX	HUWE1	RNF125	IDH1	SLC12A6	MINPP1	UBTF	MPDZ	SPEF2	ZNF699	CTNNB1	EOMES	INTU	RNASEH2B	SOX4	TBL1XR1	DNAI1	TREM2	RSPH3	MED12L	SETD2	SMARCC2	TSEN34	MBD5	EGF	FBN1	NANS	SLC25A1	TET3	MAST1	XPR1	SEPSECS	CUX1	KIRREL3	TUBB3	TCF4	MMP23B	POLR3A	IFT43	DNAAF1	EXT1	GTF2H5	TRAPPC14	EPB41L1	GNB2	HS6ST2	RPGRIP1	ACD	GNAO1	BUB3	ACTG1	PWAR1	ASNS	TRAF7	SAMHD1	EXOC2	QARS1	MAF	FANCM	ADNP	FGFRL1	MTRR	FAT4	THOC2	SPECC1L	OPHN1	STK36	FOXP3	COX6B1	DPH1	PPP2CA	BRIP1	DNAL1	HIVEP2	DPF2	DYNC2I2	FIG4	CLCN3	HECW2	SIM1	CELF2	RSPH4A	GRIN2B	AHCY	EEF1A2	DNAH9	PUF60	SHH	CLP1	TYROBP	PSAP	CASZ1	EVC2	SLC18A3	SLC9A6	PIEZO2	ZNF335	TAF13	COX8A	SLC25A19	SH2B1	LETM1	ATP6V1E1	KMT2D	CCDC103	SLC39A8	LUZP1	MRPS16	PWRN1	DOCK8	EZH2	PHC1	SHMT2	GABRD	DPYSL5	CDK5RAP2	IFT80	PPP1R21	KANK1	DNAH11	KIFBP	JAM2	NME8	TREX1	ALG2	BGN	ZC4H2
HP_CEREBRAL_CORTICAL_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_CORTICAL_ATROPHY	SACS	NDE1	NTNG2	ZMIZ1	RTEL1	FGFR1	TRMT1	TSEN54	STUB1	BRAF	FRMPD4	AP4B1	EMX2	GTF2I	SNRPN	ACTB	NCF1	ZNHIT3	VCP	DOCK3	NEK1	PYCR2	MED27	EIF4H	WFS1	ERCC3	EXOSC5	MPLKIP	ERCC2	MT-TH	POLR3A	GRN	TBCD	ATP13A2	CASK	MT-CO1	SPG7	GTF2E2	ACTL6B	BICD2	MT-ND1	EMC10	DOCK7	PAFAH1B1	MYO7A	TSEN15	DPYSL5	LARGE1	TERT	GLYCTK	SMC3	PLK4	GNAQ	TUBGCP4	PTPN23	TRIP12	PSEN1	SNX14	SIX3	RHOBTB2	PUS3	ERCC1	MAPK8IP3	KCNMA1	BCL7B	MT-TF	SLC35C1	AP4S1	NDP	TOMM40	AP4E1	CPLX1	FBXW11	WDFY3	BPTF	MAPT	TCF20	RMND1	GPKOW	MAGEL2	MT-CO2	SCYL2	TARS1	PIGV	PRDM16	POGZ	GABRA5	RAB3GAP2	RAB18	BCORL1	RLIM	MT-TL1	FBLN1	HNF1B	RAB3GAP1	MARS2	USH2A	POMT1	METTL27	PRNP	ALDH18A1	PIGN	CCDC32	DYRK1A	AMPD2	MYT1L	SMC1A	OCA2	CAMTA1	EPG5	SNCA	KDM6A	RAD21	RERE	CISD2	EHMT1	TRRAP	ELN	LIPT2	SLC12A2	MAN2B1	RFC2	VARS1	MECP2	NDN	UBR7	KMT2E	CHMP2B	TREM2	PRDX1	BICRA	FKBP6	BRD4	SLC39A4	TBK1	TMCO1	GRIA4	SLC25A15	BMP4	PIGL	HPDL	ERCC5	GBA	DGUOK	SPATA5	MEF2C	BUD23	EXOSC8	TBC1D20	GBA2	DNAJC30	MBTPS2	TCF7L2	RNU4ATAC	ADARB1	PPP2R2B	APOE	PUS7	VPS13A	SYNCRIP	GIGYF2	VPS37D	ATRX	KIF1A	IARS2	AGO2	SPG11	B4GALNT1	EIF4G1	RNF2	GON7	SQSTM1	CDH23	NTNG1	PGAP1	SPTBN1	NEXMIF	B3GLCT	GRIN1	CNOT3	AP4M1	YWHAE	PDE6D	CLCN4	KAT8	SETD1A	MT-ND4	OTUD6B	RPS6KA3	AP1S2	RFT1	CACNA1E	PARS2	FKRP	MLXIPL	MT-ND6	PSEN2	HDAC8	TRIM8	NOVA2	ALG8	FA2H	ABCA7	KDM4B	PSMD12	TRAK1	MED13	MT-ATP6	LIMK1	MMADHC	ACTG1	CLCN3	MT-TW	PEX7	PRKCZ	CTDP1	UGP2	JPH3	UBE4B	PHACTR1	LRRK2	TNRC6B	CDC42	DNAJC13	RNF125	EXOC7	APP	MINPP1	DPAGT1	ADGRV1	TANC2	TMEM70	CHCHD10	XPA	DDX6	BCAS3	KCNAB2	POMT2	MADD	CNKSR2	UBTF	PALS1	COG1	TRAPPC9	PIGS	POLR3B	ACTL6A	MMP23B	MT-CO3	HERC1	SETBP1	PDPN	GTF2H5	ERCC6	ATXN2	OCLN	ACD	ERCC4	TMEM106B	TBL2	MUC1	SORL1	CIZ1	XPC	HS2ST1	ANKRD17	TUBGCP6	MAF	SRCAP	HSPG2	SPEN	ACO2	MVK	SPECC1L	SATB1	OPHN1	NIPBL	DDB2	MAP2K1	TMEM270	WHRN	FMR1	UBE3A	HSD17B10	KCNT1	GRM7	MMACHC	MT-TS2	HTT	GMPPB	MYO5A	CLN5	CPA6	STX1A	BAZ1B	RNF113A	CLP1	TYROBP	KRAS	POLG2	CASZ1	TCTN3	MT-ND5	NUS1	SHH	LMBRD2	HIC1	SLC9A6	USH1C	PLAA	GTF2IRD2	SVBP	CIB2	PARN	DKC1	TWNK	TRAPPC12	PRUNE1	BCAP31	CYB5R3	KMT2D	SLC39A8	HRAS	LUZP1	GUF1	IKBKG	ARX	VPS35	WASF1	MAP2K2	ALS2	TINF2	USH1G	NDUFA8	ESPN	PIGA	GABRD	SKI	HUWE1	PCDH15	C9orf72	CLIP2	CYB5A	TRAPPC4	GTF2IRD1	TRAPPC6B	VPS13C	MT-TQ	PDZD7	JARID2	CWC27
HP_GENERALIZED_MYOCLONIC_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_MYOCLONIC_SEIZURE	MT-TK	CACNA1I	CDKL5	PDX1	CACNA1A	TRIT1	STAT3	GBA	DPM1	DPM2	MT-ND3	CDH15	INS	KCTD7	KIF1A	PCDH19	CHD2	KCNT2	GABRA1	SDHA	PSAP	TBC1D24	AP2M1	MTHFR	NHLRC1	IER3IP1	SCN1A	SCN9A	GCK	MT-ND5	ERBB4	MYT1L	KNSTRN	CACNG2	MT-TP	NEXMIF	MT-TI	MT-TL1	ASAH1	GABRB3	PTRH2	DPAGT1	NSD1	PIGT	ADGRV1	PRICKLE1	CAMK2B	MED12L	GRIN1	SETD2	TSEN34	MBD5	ZMYND11	CIC	NTNG1	EPM2A	TSEN15	GABRG2	TRPM3	GALC	SYNGAP1	SCN1B	DLL1	SCN2A	ASH1L	AFG3L2	CAMK2A	TRAPPC9	NBEA	SLC2A1	SEPSECS	CUX1	KIRREL3	CPLX1	PRDM8	TCF4	CHAMP1	MBOAT7	HACE1	DEAF1	NDE1	SMC1A	DNM1L	SMS	EPB41L1	SLC25A22	GLB1	TSEN54	CUX2	GABRD	TANGO2	MT-TW	CILK1	MT-ND1	MT-TF	APC2	MT-RNR1	ADGRG1	PIK3CD	ALDH7A1	MT-TH	PRICKLE2	DYRK1A	OPHN1	SIK1	PTEN	LNPK	SLC6A1	TSEN2	SDHB	NGLY1	HIVEP2	ALDH5A1	GRN	PHGDH	BUB1B	PPP3CA	CARS2	GAMT	CLN8	PAFAH1B1	SLC12A5	SLC25A15	STXBP1	GRIN2B	SET	SPATA5	EEF1A2	MFSD8	PLAGL1	HCN1	DYNC1H1	PCDH12	MT-TV	MT-ATP6	BRAT1	EFHC1	ARX	KDM5B	ABCC8	SETD1B	BTD	NDUFA1	MT-ND2	KCNQ5	MT-TS2	MT-ND4	SAMD12	CLTC	DOCK8	RAB11A	MT-ND6	CSNK2B	HYMAI	PIGA	CLCN2	STX1B	NUS1	DNM1	BRSK2	SDHAF1	ELOVL4	TAOK1	MT-TQ	MAPK10	SDHD	GABBR2	DHDDS	KCNJ11	MECP2	NEU1
HP_POLYMICROGYRIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYMICROGYRIA	KAT5	FKTN	DCPS	CACNA1I	CEP120	B3GALNT2	NCDN	AKT3	RTTN	MKS1	MTOR	CCDC88A	MED25	PIGC	SRPX2	CDH15	CDON	ZC3H14	SNRPN	TBC1D24	ACTB	KIF1A	PEX3	CEP41	MAPK8IP3	DAG1	DOCK6	TMEM67	ACTG1	RXYLT1	SIX3	AHI1	HSD17B4	TRAPPC9	GAS1	SARS1	FH	PTCH1	PIBF1	CPLANE1	ARHGAP31	PEX13	ERBB4	TCTN1	MYT1L	FKRP	NSDHL	CACNG2	BICD2	LARGE1	CUL4B	EML1	C12orf4	ADGRG1	RAB3GAP1	CC2D1A	EOMES	POMT1	IQSEC1	RAC1	KATNB1	KIF5C	CAMK2B	COL3A1	RECQL4	MED12L	EIF2AK2	FMN2	GRIN1	CRPPA	MBD5	SLC5A6	TUBB2B	ZMYND11	ATP6V1A	CIC	FRRS1L	ZEB2	TRPM3	DLL1	PEX6	ASH1L	KIAA0586	NBEA	IBA57	PEX19	CUX1	KIRREL3	NODAL	STIL	TUBB3	COL4A1	DHX37	GMPPB	MBOAT7	PIK3R2	TCF4	HNMT	PIK3CA	CHAMP1	POMGNT2	TMEM237	PEX12	DEAF1	B9D1	MAGEL2	NPHP1	OCA2	TP53RK	CRBN	GRM7	ZIC2	TTC5	EPB41L1	LINS1	TUSC3	NPRL3	WT1	LMAN2L	SUFU	LONP1	POMT2	FGF8	SUZ12	CPT2	PPP1R12A	TGIF1	UBE4A	NSUN2	EZR	MAP1B	TCTN2	PEX16	ATP6V1B2	PEX1	RSRC1	TUBB	TNIK	POMGNT1	TMX2	CLIP1	PRICKLE2	PEX11B	TRRAP	VPS4A	GPHN	SNAP29	C2CD3	WASHC4	NPRL2	PGAP1	CAMK2A	NDN	HIVEP2	PEX10	INPP5E	TMTC3	TDGF1	FIG4	OCLN	KATNIP	CBY1	PEX5	PPP3CA	PEX26	UFSP2	KIFBP	PIGB	CEP104	SRD5A3	NDST1	SCN3A	RAB18	GRIN2B	SET	EEF1A2	NAA20	SON	TECR	FBXO31	SLC12A2	POMK	MICU1	PI4KA	USP18	TBC1D20	ERMARD	DYNC1H1	KDM5B	ZNHIT3	SLC45A1	SETD1B	PEX14	PRSS12	DISP1	LAMC3	GLI2	TUBA1A	RPGRIP1L	CCND2	HYLS1	ARMC9	LAGE3	GRIK2	KCNQ5	CRADD	FDFT1	ATP6V1E1	SMO	PEX2	METTL23	ST3GAL3	ALKBH8	B4GAT1	CLTC	DHCR24	ARL3	COL18A1	AIMP1	DOCK8	PDHA1	RAB11A	ATN1	CSPP1	BMPER	ATP6V0A2	RAB3GAP2	ARL13B	EDC3	POLR3A	COL4A2	MED23	PAX6	MECP2	FUZ	SHH	MAN1B1	CSNK2B	GPSM2	SHMT2	FOXH1	SF3B4	PTEN	DEPDC5	TUFM	BRSK2	ERCC1	WDR62	SYNGAP1	DISC1	TAOK1	ODC1	MN1	ATP1A2	NEMF	GNB1	AP1G1	KLHL15	TUBA8
HP_ABNORMAL_UPPER_MOTOR_NEURON_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_UPPER_MOTOR_NEURON_MORPHOLOGY	ALS2	TBK1	GBE1	SPG7	ERLIN2	MATR3	SQSTM1	CHCHD10	TYROBP	C9orf72	SIGMAR1	POLR3A	POLR3B	PNPLA6	SETX	ALDH18A1	VCP	TARDBP	FUS
HP_EPISODIC_ATAXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISODIC_ATAXIA	PNKP	DMXL2	TRIM8	KCNA1	SLC6A19	CACNA1A	NEUROD2	CASK	CDKL5	SCN1B	OTC	SLC2A1	PDHA1	SLC1A3	CACNB4	PIGQ	SCN2A	PIGP	SIK1	SLC25A22	ATP1A3	GRM7	GNAO1	NFIX	ARX	ATP1A2
HP_PORENCEPHALIC_CYST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PORENCEPHALIC_CYST	HRAS	EOGT	LAMB1	RNASEH2B	GPX4	NOTCH1	OFD1	COL4A1	NRAS	ARHGAP31	FGFR1	TCTN3	DOCK6	ADAR	KRAS	KIF1A	RBPJ	ZNHIT3	RNASEH2A	SNRPB	TREX1	RNASEH2C	IFIH1	DLL4	SAMHD1	COL4A2
HP_STATUS_EPILEPTICUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STATUS_EPILEPTICUS	PRODH	CAD	SLC12A5	LMNB2	MRM2	CACNA1I	CDKN2B	ARX	KCNJ11	CCDC88A	KCNQ3	KCNQ2	CDH15	TICAM1	KIF1A	TRAK1	SCN3A	SMARCAL1	PCDH19	POLG	GABRA1	CLCN2	ABCC8	NTRK2	CDKN1A	SZT2	PNPO	HCCS	NHLRC1	PEX5	ODC1	VPS51	FH	SCN9A	UCP2	CTSD	NUS1	GABRA2	CILK1	ERBB4	MYT1L	TRAF3	SCN8A	CACNG2	NEXMIF	STRADA	ATP1A3	CDK19	YWHAG	AP3B2	ADORA2A	DEAF1	ADGRV1	ARV1	AKT3	CARS2	TSC1	DIS3L2	CAMK2B	RHOBTB2	MED12L	IQSEC1	UPB1	GRIN1	UNC93B1	EFHC1	MBD5	ZMYND11	CIC	EPM2A	ATP1A2	CACNA1A	GABRG2	TRAPPC2L	SCN1A	TRPM3	KCNB1	HCN1	DLL1	SCN2A	ASH1L	ST3GAL5	MECP2	NBEA	CUX1	KIRREL3	PIGS	SYNJ1	ITPA	TCF4	CHAMP1	UBA5	TIMM50	GABRD	DNM1L	CACNA1B	EPB41L1	GABRA5	BSCL2	PRRT2	GABRB2	ALDH7A1	ALDH4A1	ASAH1	VAMP2	TLR3	GRIN2D	GRIA4	PDE2A	QARS1	CACNB4	WWOX	SYNGAP1	PSAP	PIK3CA	PRICKLE2	EHMT1	AMACR	SMARCA2	CELF2	SLC1A2	EEF1A2	KCNA2	KCNT1	CAMK2A	GRM7	HIVEP2	AARS1	ALDH5A1	ATP6V0A2	PET100	CHD2	COG8	FIG4	PDSS2	PPP3CA	BCL10	ATP6V1A	STXBP1	KCTD7	GRIN2B	SET	CDKN1B	ACTL6B	GPAA1	TSC2	JRK	SLC19A3	MICU1	TBC1D20	DYNC1H1	KDM5B	SCN1B	SETD1B	CYFIP2	PLPBP	SLC13A5	TWNK	ECE1	GRIN2A	KCNQ5	MEN1	FGF12	DNM1	CLTC	DHCR24	DOCK8	RAB11A	FGF13	SLC1A3	TBC1D24	KIF11	NDUFA8	CNKSR2	PARS2	CSNK2B	COX7B	NECAP1	STX1B	SATB1	CARS1	SON	ATP1A1	BRSK2	GRIA3	DHDDS	TAOK1	COX10	NDUFB11	CDKN2C	TBK1	KCNMA1	ATXN10	SLC2A1	SVBP	NARS2	RNU4ATAC	CACNA1E	DALRD3
HP_ABNORMALITY_OF_THE_BASAL_GANGLIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_BASAL_GANGLIA	NDE1	FAM111A	MRM2	MT-ND6	DCPS	HSD17B10	PRNP	ZEB2	OPA1	ETHE1	NCDN	TBCK	NDUFA13	VPS13A	PDHA1	ASPA	MED25	DNM1L	FA2H	PIGC	MT-ND3	ZC3H14	KCNQ2	CP	SCO2	TIMM8A	ATXN3	TYROBP	SLC19A3	SURF1	CNTNAP1	WDR45	MT-ATP6	TBP	SUCLG1	GLB1	PSMB8	NDUFAF5	MT-TW	NDUFA10	NUP62	SUCLA2	TRAPPC9	GCH1	FOXP2	GATA3	SARS1	GNAS	JAM2	NDUFS2	MT-TH	HTT	JPH3	PDE8B	PSMG2	FOXRED1	DLAT	PDE10A	CYP27A1	GNA11	SLC20A2	MT-CO1	DCX	MT-ND1	SNCAIP	TBCE	FTL	IDH1	NDUFV1	RNASEH2C	C12orf4	IFIH1	PLA2G6	TACO1	RNU7-1	NADK2	CC2D1A	IQSEC1	CA2	RNASEH2B	CASR	EIF2AK2	ERCC8	FMN2	SNCA	SLC46A1	FRRS1L	PDGFB	MT-TF	NDUFS4	NANS	PET100	FDXR	TUBB3	C19orf12	MBOAT7	HNMT	MT-CO3	TK2	GJA1	MAPT	MT-CO2	POLR3A	CRBN	NDUFB8	COQ2	GRM7	TTC5	BSCL2	ATXN2	CSPP1	LINS1	GTPBP3	TUSC3	MT-TL1	PNPT1	LMAN2L	CYP2U1	LONP1	ERCC4	PANK2	CPT2	NDUFAF3	UBE4A	AIFM1	NSUN2	EZR	FASTKD2	SAMHD1	NDUFS8	ATXN8OS	SLC44A1	AUH	FBXO7	RSRC1	VPS11	TNIK	NDUFAF6	NDUFV2	POLR2A	CLIP1	ADAR	GSX2	NDUFA4	MT-TT	OPHN1	NDUFS3	KIAA0586	GLUD2	PDHX	VPS16	RANBP2	WASHC4	SDHA	ERCC3	PGAP1	SYT1	NDUFA9	MT-TS2	SLC25A46	VRK1	TREM2	XPR1	ISG15	UFSP2	NDUFAF2	CLPB	GCDH	LSM11	NDST1	SLC30A10	ATR	LIPT1	MT-TK	HIBCH	NAA20	MTFMT	TECR	ERCC6	FBXO31	SLC12A2	MT-ND5	NDUFA12	LRPPRC	MT-TV	GLI3	MFF	SLC2A3	SLC45A1	NR4A2	PRSS12	GFM1	B3GALNT2	KDM5B	ADH1C	VPS41	GRIK2	MT-ND2	CRADD	COASY	TUBB2B	PDGFRB	CYB5R3	GBA	ATP13A2	HTRA1	METTL23	MT-ND4	ST3GAL3	ALKBH8	SPG11	AIMP1	NDUFS7	MMUT	PRKN	EDC3	MED23	MAN1B1	AP1S2	TREX1	NDUFA2	NDUFS1	ECHS1	COQ8A	MICU1	CYB5A	RNASEH2A	LRRK2	PDSS2	RFT1	NEMF	COX15	ALG2	MT-TQ	AP1G1	ACVR1	DNAJC19
HP_BASAL_GANGLIA_CALCIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BASAL_GANGLIA_CALCIFICATION	SAMHD1	FAM111A	MT-ND6	CA2	OPA1	CASR	GNAS	ERCC8	SLC46A1	DNM1L	PDGFRB	PDGFB	MT-TF	TYROBP	ERCC3	MT-TS2	SLC25A46	RNASEH2B	PSMB8	TREM2	XPR1	MT-TW	MT-CO3	ISG15	GATA3	GJA1	JAM2	LSM11	MT-CO2	MT-TH	TREX1	ERCC6	IFIH1	PSMG2	MT-TL1	GNA11	SLC20A2	MT-CO1	CYP2U1	ERCC4	MT-ND1	MT-ND4	MT-ND5	MT-TQ	ACVR1	RNU7-1
HP_BROAD_BASED_GAIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_BASED_GAIT	CAD	UBE3A	CHD3	RAI1	GBA	XRCC4	PIEZO2	VLDLR	DYRK1A	KCND3	SGCB	GPT2	RNU12	TBP	VCP	SIM1	SATB2	OCA2	MAN1B1	TOP3A	CCDC88C	RBM10	PEX5	EXT2	DNAJC12	DDX3X	RNF113A	COQ2	SRCAP	ATCAY	DLAT	EBF3	SNRPN	CERT1	BCORL1	GBA2	GTF2E2	AP5Z1	CDK10	GALC	CUL4B	SNX14	PURA	ACTL6B	DEAF1	WDR26	PACS2	FLVCR1	YWHAG	PIGL	PPP1R15B	THRA	SGCG	SHANK3	ZEB2	TRMT10A	PPM1D	TKFC	SMS	SPTBN1	UROC1	TBC1D23	ATP10A	TPP1	HACE1	MECP2	MTTP	TRPV4	TMEM222	MED12	RLIM	MYOT	CARS1	GNB2	ZSWIM6	NRXN1	ITPR1	TRIM2	TMEM106B	ADGRG1	KMT2A	HTT	WASF1	NKX2-1	NBEA	MAP1B
HP_SUBARACHNOID_HEMORRHAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBARACHNOID_HEMORRHAGE	MYLK	ENG	TGFBR1	LOX	ACTA2	COL3A1	SMAD3	GP1BA	GDF2	ITGA2	MAT2A	TGFB3	SMAD4	ELN	ITGA2B	TGFBR3	THSD1	ACVRL1	HEY2	CD109	SMAD2	GP1BB	RASA1	TGFBR2	MYH11	ITGB3	FBN1	TGFB2	FOXE3	ANGPTL6	DOCK8	PRKG1	MFAP5	F10
HP_ARRHINENCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARRHINENCEPHALY	TBX1	COMT	VANGL1	RNASEH2B	HIRA	HYLS1	ADAR	SF3B4	FIG4	ARVCF	SEC24C	CHD7	TBC1D24	FANCB	RREB1	GP1BB	RNASEH2A	UFD1	TREX1	KIF7	RNASEH2C	SMOC1	IFIH1	FUZ	GLI3	ATP6V1B2	SAMHD1	SEMA3E	VAC14	JMJD1C
HP_ISCHEMIC_STROKE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ISCHEMIC_STROKE	MYLK	ADA2	ENG	TGFBR1	LOX	ACTA2	SMAD3	COL4A1	SLC2A10	GNB2	MAT2A	TGFB3	SMAD4	SCN5A	ELN	ACVRL1	BRCC3	HEY2	SON	SMAD2	TGFBR2	SMARCAL1	NPPA	GUCY1A1	MYH11	NOTCH3	FBN1	TGFB2	FOXE3	PRKG1	MFAP5	PIK3C2A
HP_GAIT_IMBALANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GAIT_IMBALANCE	DEAF1	SPTLC1	CHD4	SPTLC2	TTBK2	UBE3A	SLC2A3	MLXIPL	ERLIN2	SPEN	GTF2IRD2	ATXN1	HK1	PRKN	ADGRG1	PUS3	FLNC	CCDC28B	BCAS3	HTRA2	VPS37D	ARL6	PARK7	PIK3R5	ELN	BCL7B	FXN	TMEM270	GTF2I	PTEN	NCF1	PMP22	RFC2	PINK1	LIMK1	ATL3	VPS13C	RRM2B	VCP	SYNJ1	EIF4H	SNCA	MAPT	DNAJC6	OCA2	FKBP6	RNASEH1	PODXL	STX1A	ATL1	TELO2	HTT	UCHL1	BAZ1B	TAF1	ATP5F1D	METTL27	SETX	TBL2	CLIP2	PIGG	BUD23	KAT6A	GALT	GTF2IRD1	ATXN10	DNAJC30	BBS1	LRRK2	ALS2
HP_ABNORMALITY_OF_THE_SPINAL_CORD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_SPINAL_CORD	ACY1	SPG7	PIGG	MLXIPL	SUFU	TGFBR1	COMT	SUPT16H	NAXE	COLEC10	RAI1	FLNB	TMEM216	RAD51	MAT2A	SETX	KANSL1	INPP5E	POMT2	WASHC5	MNX1	FUZ	BRAF	FXN	GTF2I	FANCC	FLVCR1	TBC1D24	NCF1	CYP7B1	ARSL	CTBP1	ATXN3	KRIT1	NF1	LIMK1	KDM1A	ATXN1	H19	EIF4H	NELFA	GNPTAB	RUNX2	ABCA1	APOE	AMER1	LZTR1	IDUA	FANCF	HMGA2	MTHFR	ERCC4	TBX1	PUF60	FANCD2	COL2A1	EXT1	RNASEH1	LETM1	ITGB4	FIBP	VANGL1	LOX	PRMT7	EXT2	HMX1	CCT5	HBB	HFE	HES7	GDF6	BMS1	CYP27A1	DDR2	NSD2	MESP2	KPNA3	NEFL	ARVCF	FANCB	RASA1	TNXB	TGFBR2	CREBBP	NOTCH2	SALL4	VHL	UFD1	RMRP	FANCL	CCBE1	NF2	TBX6	SMAD3	FRAS1	FAR1	PTCH2	SC5D	GCLC	CTNNB1	MFAP5	DACT1	PHGDH	SLC33A1	ATXN2	DKK1	PTPN11	KIF1B	GLRX5	NOTCH3	HIRA	RECQL4	PALB2	MEOX1	CPLX1	FREM2	POLG	GNAS	MAD2L2	CEP290	PLEC	RTN2	BMP2	FANCA	DARS2	BCL7B	B2M	B3GALT6	MYH3	APP	VANGL2	CCL2	FANCG	WNT7A	LFNG	TGFB2	MMACHC	PRPS1	TNFRSF11A	HAAO	FLNA	CUL7	NEPRO	TDP1	PIK3CA	POLA1	NSUN2	TBXT	RAF1	TGFB3	GLB1	CSPP1	FLI1	ARID1B	FBLN1	PORCN	SEC24C	METTL27	TBL2	NOTCH2NLC	MYH11	FKTN	SNRPB	COMP	NOS3	MASP1	MAFB	FANCI	CHN1	IGF2	ALDH18A1	MTRR	ATP6V1B2	TRAF7	FBN1	RELA	RTL1	FANCM	ENG	IDS	CCNQ	ZIC1	FGFRL1	POMT1	PI4KA	SLC26A2	GALNS	PLP1	LEMD3	ELN	GMPPB	KIAA0586	TWNK	TMEM270	FOXC2	BRIP1	APC	MAN2B1	KCNH1	RFC2	FOXF1	MTHFD1	PAX3	NMNAT1	HABP2	B3GALNT2	UBAP1	ZSWIM6	PRKG1	LIG4	SLX4	RIPPLY2	KIF22	MORC2	ACTB	SETD2	PNPLA6	FKBP6	ACTA2	STX1A	OFD1	COLEC11	MINPP1	FKRP	BAZ1B	FA2H	MEG3	GDF3	RAB23	DLL4	PDCD10	PLAU	BUD23	NEK9	MPO	GTF2E2	RAD51C	FANCE	DNAJC30	BMPER	DNA2	CCND1	JMJD1C	DLL3	GTF2IRD2	ABCD1	NRAS	GJA1	DARS1	BTD	SLC25A19	ZFTA	SH2B1	IRF6	VPS37D	SMAD4	UBE2T	EP300	PTCH1	FOXE1	LMX1B	SMAD2	LARGE1	LYST	IKBKG	SPG11	SIN3A	RRM2B	RORA	TRIM36	FOXE3	MTR	POMGNT1	GJB1	ZMYM2	NFIA	CHRNG	MYLK	ARSB	PHEX	ALX4	LMNB1	B3GLCT	MAP3K7	DLK1	DNAJC3	RFWD3	MFN2	CCM2	ACVRL1	HEY2	BRCA2	MSX2	XRCC2	WBP11	RREB1	GRIP1	CLIP2	KCNQ1OT1	EXTL3	GP1BB	SMARCB1	TRPV4	AKT1	GTF2IRD1	RBM8A	GJB2	BRCA1	GLI3
HP_FRONTOTEMPORAL_DEMENTIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRONTOTEMPORAL_DEMENTIA	TBK1	CHCHD10	PRKAR1B	MAPT	TARDBP	SQSTM1	TREM2	PSEN2	PSEN1	TMEM106B	PLA2G6	VCP	GRN	ABCA7	CYLD	TOMM40	CHMP2B	C9orf72	CCNF	UBQLN2	HNRNPA2B1	DCTN1	FUS	TUBA4A	TIA1	SORL1	ZFYVE26	APP	HNRNPA1
HP_HYPOPHOSPHATEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPHOSPHATEMIA	STAT6	GABRA3	FAM111A	ENPP1	CDC73	SNX10	DMP1	SLC34A3	CLCN5	SLC34A1	MEN1	INPPL1	CYP27B1	GATM	GNAS	TCIRG1	FAH	HRAS	EHHADH	SLC9A3R1	ABCC6	CTNS	AP2S1	VDR	SLC2A2	CLCN7	KCNJ18	OCRL	CYP2R1	COL4A3	FGF23	FAM20C	CACNA1S	TNFSF11	PHEX	GCM2	NDUFAF6	KRAS	ALDOB	NRAS	PTH1R	CYP3A4	NAB2	HNF4A	CASR
HP_HYPERURICEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERURICEMIA	PRPS1	ALMS1	SEC61A1	SARS2	CLDN16	UMOD	PPARG	SLC37A4	HNF1B	MYC	ALDOB	TNFRSF11B	HPRT1	TNFRSF11A	PFKM	G6PC1	MCFD2	FBP1	MUC1	REN	HMGCL	SH2B1	LMAN1	ACAT1
HP_INCREASED_SERUM_LACTATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_SERUM_LACTATE	PNPO	MT-ND6	NAXE	SLC25A4	HSD17B10	NDUFA13	PDHA1	RRM2B	MT-ND3	PET117	YARS2	OGDH	MRPS34	PNPT1	SCO2	RARS2	SURF1	POLG	SUCLG1	UQCRQ	KARS1	ACAT1	NDUFAF5	MT-TW	NDUFA10	TTC26	COX5A	C1QBP	NDUFS2	MT-TL2	MT-TN	LIAS	TWNK	MT-TH	MT-TK	WARS2	SDHA	MTRFR	FOXRED1	PYGL	CYP27A1	MT-CO1	SOD1	MT-TP	MT-TI	MT-TL1	MT-ND1	HPDL	TK2	NDUFV1	NDUFA9	SERAC1	TACO1	AGK	FDX2	TSFM	LRPPRC	TIMM50	CARS2	SLC25A26	COQ9	TXN2	COX6A2	DLD	LDHA	PITRM1	SLC25A3	DARS2	MT-TF	NDUFS4	CA5A	PET100	LYRM7	OCRL	MDH2	NDUFAF1	PDP1	PHKG2	ATAD3A	MT-CO3	SLC7A7	RMND1	MRPL44	MT-CO2	NDUFB8	PMPCB	POLG2	COQ2	DNM1L	HS6ST2	MRPL12	TRMT5	TRMU	LONP1	TRMT10C	ACAD9	TANGO2	NDUFAF3	AIFM1	HMGCL	UQCC3	FASTKD2	NDUFS8	TIMM22	MRPL3	GFM2	NDUFAF6	COX14	NDUFV2	NDUFB9	MIPEP	NDUFA4	FBXL4	NDUFS3	COX6B1	PDHX	LIPT2	LIPT1	MICOS13	PC	MT-TS2	SCO1	CYC1	PDSS2	MRPS14	NDUFAF2	CHCHD10	CLPB	SYNJ1	ISCA1	SLC25A10	DGUOK	TARS2	HIBCH	SFXN4	MPC1	MTFMT	HTRA2	GOT2	TMEM126B	MT-ND5	NFS1	NDUFA12	TMEM70	UQCRB	MT-TV	MT-ATP6	PUS1	NGLY1	MRPS28	COX8A	GFM1	SLC25A42	NDUFA11	COQ4	PNPLA8	NDUFA1	MT-ND2	RNASEH1	RARS1	MRPS22	MT-ND4	MRPS16	ACAT2	COX20	AARS2	NDUFS7	SDHB	MECP2	NDUFA8	NDUFA2	ECHS1	TUFM	EARS2	YARS1	NDUFS1	COQ8A	COX10	ISCU	UQCRC2	NDUFC2	BCS1L	COX4I1	ATPAF2	SLC19A3	GTPBP3	MTO1	COX15	FARS2	MT-TQ	PDSS1	DNAJC19	GYS2	NARS2	ADAMTS13
HP_HYPERKALEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERKALEMIA	SCNN1B	CYP11B2	GABRA3	NR3C2	CYP11A1	INVS	SCNN1A	KLHL3	SLC2A1	ABCB6	SLC30A9	SCNN1G	CUL3	HSD3B2	TXNRD2	SAMD9	WNK4	SCN4A	NNT	RYR1	MC2R	LPIN1	KCNJ18	CA12	MRAP	MT-CO3	CACNA1S	STAR	WNK1	MT-CO1	ALDOA
HP_HYPERTRIGLYCERIDEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTRIGLYCERIDEMIA	CREB3L3	ALMS1	SLC25A13	GPD1	TMEM43	TTPA	LMF1	SMPD1	GK	LEPR	LMNA	STXBP2	CAVIN1	XIAP	APOC2	HAVCR2	NSMCE2	PSMB10	ABCA1	PSMB8	CAV1	LCAT	PNPLA2	PLIN1	PSMB9	LIPC	MC4R	XRCC4	RAI1	FARSA	PHKB	LRP6	ABHD5	SYNE2	PPARG	LDLRAP1	LPL	EMD	DEF6	PRF1	MCM10	BSCL2	PHKG2	PIGT	STX11	FLII	FOS	SLC37A4	MTX2	PIGH	PLVAP	LIPE	SGPL1	AGL	DEAF1	LEP	LIPA	CYP7A1	AGPAT2	PYGL	SLC2A2	FHL1	LYST	UNC13D	PHKA2	POLR3A	PSMB4	SLC29A3	SYNE1	POLD1	FECH	JAG1	YARS1	APOA5	CIDEC	CEP19	IQSEC2	SLC7A7	RSPO1	CELA2A	AEBP1	APOE	AKT2
HP_HOMOCYSTINURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HOMOCYSTINURIA	MMADHC	LMBRD1	MMACHC	PRDX1	MTR	MTRR	MTHFR	CBS	HCFC1	ABCD4
HP_HEPARAN_SULFATE_EXCRETION_IN_URINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPARAN_SULFATE_EXCRETION_IN_URINE	IDS	SGSH	VPS33A	NAGLU	HGSNAT	GUSB	GNS
HP_HYPERHOMOCYSTINEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERHOMOCYSTINEMIA	LMBRD1	PRDX1	MTR	MTHFR	CBS	ABCD4	MTRR	SLC19A1	MMADHC	MMACHC	AHCY
HP_LOW_POSTERIOR_HAIRLINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_POSTERIOR_HAIRLINE	RASA2	APC	PIGG	SRY	HDAC8	CPLX1	FGFRL1	KDM4B	RAD21	SRCAP	BRAF	RRAS	NRAS	ABCC9	NIPBL	RIT1	MAP2K1	ACTB	RAF1	ANKRD11	CTBP1	KRAS	SPRED1	CDH2	ACTG1	NELFA	TFAP2A	CAV1	B3GAT3	PIK3C2A	INTU	CNOT3	ALG12	SPRED2	BRD4	LETM1	VPS51	IRX5	TMCO1	ALDOA	CCDC22	NF1	XYLT2	GDF3	GDF6	EFNB1	LZTR1	NSD2	PPARG	RRAS2	SALL4	EDEM3	MYO18B	HUWE1	VPS33A	UBE2A	ZNF699	SMC3	MEOX1	CHST3	CAVIN1	SLC25A24	MADD	GNE	FOS	AEBP1	KCNJ8	TBX15	MRAS	PHF8	PTPN11	PPP1CB	AGPAT2	NANS	MYH3	PIK3CD	KNSTRN	SOS1	MAP2K2	SHOC2	CHRNG	EP300	PGAP1	SMARCD1	BSCL2	SOS2	WBP11	RAB3GAP1	ALG9	PEPD	MAPK1	CBL	CREBBP	RAB3GAP2	WASHC5	IGF1	MAFB	CHN1	SMC1A	NFIX	NOTCH3
HP_NAIL_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NAIL_DYSPLASIA	EDARADD	PLEC	TERC	MSX1	ITGB4	SRY	PRKACB	TP63	LRP4	EOGT	ROR2	DPM1	TINF2	PLCD1	TGM1	EVC	TBC1D24	EZH2	KCTD1	CTBP1	GJC2	CTSK	CLEC7A	MBTPS2	TERT	NECTIN1	ERCC3	KRT6B	MPLKIP	POP1	MMP1	ATR	GJA1	KRT6A	IL17RC	PEX7	ANTXR1	LMX1B	EVC2	GTF2E2	ARX	SUZ12	GLI1	IL17F	FGFR3	KRT14	NHP2	LPAR6	DSP	HPGD	KRT5	ORC1	NOP10	SOX18	FZD2	EDA	EED	LAMC2	LAMA3	DKC1	FHL1	IHH	SREBF1	SHANK3	BMP2	FGF10	KRT83	HRAS	TRPV3	DYNC2LI1	CTC1	KRT86	FOXN1	COL7A1	ATP2A2	SOST	FLNA	GTF2H5	STXBP1	TARS1	PIGV	IFT43	KRT85	NFKB2	NXN	LAMB3	PORCN	ERCC2	NSD2	KRT1	TRAF3IP2	RPS6KA3	EXT2	STIM1	DVL1	FAM111B	PRKACA	ATP6V1B2	IKBKG	GPC3	ALG3	WNT10A	CPLX1	FGFRL1	ABCA1	HHAT	KRT81	INSR	RIPK4	GLI3	TRRAP	KRT17	IL17RA	ITGA6	SMARCD2	COL17A1	GJB2	RECQL4	SLC39A4	DVL3	EFNB1	GJB6	RNF113A	ANAPC1	POMP	HLA-C	SATB2	KRT16	TFAP2A	RNU4ATAC	FLT4	WRAP53	PLOD3	POC1A	ECE1	WNT5A	RNF13	FGFR2	FERMT1	LETM1	TRPS1	PTDSS1	EDAR	FZD6	HOXC13	IL11RA	GPC4	NTRK1	VEGFC	SETBP1	NSD1	TAF1	BHLHA9	WNT7A	WDR35	PHYH	BMP4
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	SLC33A1	VAMP1	HSPD1	ERLIN2	FLVCR1	SPTLC2	ABCD1	WASHC5	KCND3	RTN2	DARS2	SAMD9L	SCO2	FLRT1	PMP22	SPG11	B4GALNT1	WDR48	VCP	SPAST	UBAP1	GCH1	CACNA1G	SACS	TDP1	KLHL9	PDYN	CPT1C	POLR3A	REEP2	GBA2	HARS1	ALDH18A1	ATL1	BSCL2	KPNA3	SPG7	KIF5A	MT-ATP6	PRKCG	ARSI	NIPA1	PEX6	KLC2	PDK3	HINT1	FAR1	CYP7B1
HP_SCANNING_SPEECH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCANNING_SPEECH	CP	COQ2	TPP1	SACS	ITPR1	CCDC88C	PLP1	ATXN1	PNPLA6	PAX6	ATXN10	TMEM240	DAB1
HP_CLONUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLONUS	KIF1A	SLC44A1	SELENOI	ALS2	SPTLC1	SIGMAR1	PI4KA	MYL2	STUB1	POMGNT1	SETX	HTT	FA2H	MED17	WASHC5	USP8	SEPSECS	KCNQ2	ZFYVE27	TSEN2	SAMD9L	PRPS1	CYP7B1	TIMM8A	TRAK1	KCNT1	PC	OSTM1	PSAP	PET100	KDM1A	KCNQ3	KIF5A	UBAP1	FGF13	VCP	SLC16A2	POMT2	SLC25A15	HIKESHI	RAB18	ATL1	CCT5	POMT1	MTRFR	ERLIN1	KPNA3	SOD1	POMK	MICU1	ZFYVE26	ANO10	NIPA1	SYNE1	SLC6A9	GBA2	BRAT1	CAPN1	ERLIN2	UFC1	SLC33A1	SLC2A3	TIMM50	FKRP	PLPBP	SPG11	CAV1	SLC1A4	KIF1C	PRUNE1	GFM2	SPART	RTN2	UCHL1	GALC	PTS	SLC25A21	NDP	OCRL	SPTBN1	PIGT	GMPPB	SPAST	TANGO2	FUS	ABCB7	VPS37A	SLC39A14	LMNB1	ABCD1	REEP1	CARS1	POU3F4	ATP6AP2	ADGRG1	SLC52A3	AMPD2	PIGP
HP_INTRACRANIAL_HEMORRHAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRACRANIAL_HEMORRHAGE	NF1	NDE1	ENG	FN1	TGFBR1	CST3	RET	LOX	SDHD	F7	KCNJ5	CFH	JAK2	APP	MAT2A	ATP7A	KANSL1	FGA	ELN	ITGA2B	TGFBR3	F2	CCM2	SDHAF2	SPARC	F5	ABCC6	SLC25A11	SH2B3	KRIT1	MAX	VHL	PET100	SERPINE1	FGG	LMBRD1	F8	DOCK8	PRKG1	F13B	STAT2	CLCN2	BAP1	CD46	CPT2	GCDH	ACTA2	GP1BA	PCCB	SMARCE1	GDF2	HELLPAR	ZMPSTE24	DNMT3A	NF2	FCGR2C	LMNA	DLST	THSD1	PDCD10	BRCC3	CFI	PTEN	SDHC	TRAF7	MCFD2	ADA2	USP18	RASA1	CBS	SMO	PROS1	WAS	TGFBR2	WIPF1	COLGALT1	ALPL	RNF168	PMM2	FBN1	DPAGT1	ERCC8	SMAD4	LMAN1	SDHB	AKT1	MFAP5	F10	SMAD3	COL4A1	IVD	CYP11B2	PCCA	CYP11B1	SAMD9	CACNA1D	SMAD2	GP1BB	ITGB3	NOTCH3	CYP26C1	SMARCB1	FH	TGFB2	FOXE3	ACVRL1	MMACHC	ANGPTL6	MMUT	IPO8	MDH2	F13A1	COL4A2	MYLK	SUFU	COL3A1	KIF1B	ITGA2	ERCC6	TGFB3	SDHA	TMEM127	HEY2	CD109	TERT	ACAD9	EPAS1	FGB	SERPINF2	PDGFB	GBA	MYH11	GNAQ	GATA2	PIK3CA
HP_GLIOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLIOSIS	TLR3	ATXN8OS	EIF2B1	EIF2B4	FBXO7	SNCA	PRNP	TSEN54	THOC2	PIK3CA	ETFDH	AVP	MT-TT	DYRK1A	TARDBP	L2HGDH	TBCD	GLUD2	HTT	PLA2G6	MAN2B1	SCO2	CHCHD10	RANBP2	ATXN3	TYROBP	TFG	SURF1	GDAP2	POLG	NGLY1	KCNT1	TBP	YY1	SLC25A46	VRK1	EIF2B5	NUP62	HSD17B4	CSF1R	GBA	GRN	MT-ATP6	ADAR	CYP27A1	FUS	ETFB	LRRK2	SNCAIP	LMNB1	ATP6V1A	DNAJC13	PLP1	BRAT1	EIF2B2	TBK1	LRPPRC	NR4A2	AKT3	SQSTM1	ATXN2	ADH1C	GIGYF2	ZNF335	PMPCA	KMT2C	PAX2	ARX	C9orf72	MAPT	ERCC6	SERPINI1	EIF4G1	VPS35	PDHA1	AP4M1	MOCS2	PRKN	COX15	UBQLN2	PIGA	PSEN1	KDM3B	NDUFS2	NDUFB8	NAXD	EIF2B3	LONP1	ETFA	MOCS1	NDUFAF3	EHMT1	FARS2	NARS2	VCP
HP_POSTURAL_INSTABILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTURAL_INSTABILITY	ATXN8OS	FBXO7	PRKAR1B	SNCA	PRKN	ADAT3	MAPT	STUB1	PLA2G6	GARS1	LCA5	DNAJC6	MT-TT	OPHN1	PARK7	CACNA1A	SDHA	KCND3	COQ2	ENPP1	GLUD2	ERCC8	ATP1A3	TIMM8A	PINK1	KCNA1	PNKP	TBP	VPS13C	LRAT	VPS35	SYNJ1	CLN5	DDHD1	NIPA1	CSF1R	TUBG1	SLC30A10	NIPA2	GBA	RUBCN	SPATA7	SLC20A2	SPG7	ATP13A2	RPE65	LRRK2	KCNC3	GIGYF2	SNCAIP	TAF1	DNAJC13	NF2	FAR1	PODXL	ATP1A2	ERCC1	ATXN2	NR4A2	ABCC6	COL4A1	ADH1C	HTRA2	POU3F3	RNASEH1	TRPC3	PDGFB	PMP22	C19orf12	EIF4G1	CACNB4	CXCR4	ATXN3	ERCC6	PDGFRB	MME	UCHL1	ALDH18A1	SCN1A	PRRT2	ERCC4	RFC1
HP_HYPOGLYCEMIC_SEIZURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOGLYCEMIC_SEIZURES	ABCC8	GCK	GLUD1	POMC	UCP2	POGZ	SLC37A4	HADH	PCSK1	AKT2	KCNJ11	TXNRD2	NNT	HNF1A	MC2R	TANGO2	PROP1	MRAP	STAR	TBX19	INSR	SLC16A1
HP_POSTURAL_TREMOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTURAL_TREMOR	ATXN2	MT-ND4L	PARK7	ATXN1	TENM4	MT-ND6	GCH1	STUB1	MT-CO3	TPP1	MT-CYB	PMP22	COL6A3	ITPR1	NDUFS2	PIK3R5	MT-ND5	MT-CO1	MT-ND1	COQ2	FUS	ATP13A2	FMR1	NOTCH2NLC	SCARB2	POLR3B	NIPA1	PPP2R2B	MYBPC1	PRKRA	NDRG1	MT-ND4	DRD3	CARS2	TH	LMNB1	POLR3A	MT-ATP6	TSPOAP1	REEP2	MT-ND2	KCND3	ANO3	OPA3	MFN2	FGF14	MPZ	TMEM240	VAPB	ALDH18A1	SETX	CACNA1G	GALT	DNAJC30	BSCL2	TUBB4A
HP_SPINAL_CORD_COMPRESSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPINAL_CORD_COMPRESSION	NEPRO	IDS	COL2A1	PHEX	KIF1B	EXT1	CREBBP	FLNB	SLC26A2	MINPP1	CCND1	EXT2	HBB	GNAS	EP300	DDR2	FOXE1	B2M	B3GALT6	APC	ARSL	EXTL3	TRPV4	AKT1	RMRP	HABP2	COMP	DNA2	IDUA
HP_OPISTHOTONUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPISTHOTONUS	ALG11	NDE1	FUZ	UGDH	CLPB	CARS2	SPG11	GRIK2	ALS2	PAFAH1B1	SPTLC1	SETBP1	SIGMAR1	ASPA	TSEN54	ACP2	KCNJ6	TUFM	AASS	POU3F3	CRLF1	VPS53	CYB5R3	HPRT1	GPHN	PANK2	GCDH	MCCC1	GALC	TSEN2	PTS	GBA	MOCS1	SLC19A3	EXTL3	PSAP	OPA1	TNR	MCCC2	MOCS2	FUS	GLYCTK	ADSL	NDUFA8
HP_NEURODEGENERATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEURODEGENERATION	CFAP410	PFN1	SLC2A3	PPARGC1A	FUS	RNASEH2B	HSD17B10	CHCHD10	PRPH	TXN2	ABCD1	NBN	VCP	ADAR	TAF15	UBTF	PCNA	TREM2	C9orf72	UCHL1	PON1	PLA2G6	SOD1	WDR45	ATXN3	SPTBN1	ATXN2	OPTN	NEFH	TBK1	LYST	TANGO2	ANXA11	FOLR1	GUSB	CCNF	GM2A	GLT8D1	EPHA4	ZBTB20	DCTN1	PON3	ANG	NAXD	COASY	CHMP2B	MAPT	HTT	GLE1	FIG4	PDE8B	DAO	GALC	DLAT	UNC13A	CSF1R	SQSTM1	C19orf12	MFSD8	IDS	COQ2	AARS2	VAPB	HNRNPA1	FTL	RNASEH2A	NEK1	PON2	PANK2	TTC19	ERBB4	TREX1	IDUA	FA2H	TARDBP	RNASEH2C	UBQLN2	NARS2	IFIH1	PRNP	SAMHD1	MATR3
HP_CEREBRAL_EDEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_EDEMA	CPT2	CACNA1A	SLC25A13	NAXE	NDUFS4	ASL	NAXD	DBT	SMS	BCKDHB	OTC	COX16	UNC93B1	RANBP2	ACAD9	TRAF3	SCN1A	TICAM1	KCNQ2	ASS1	PRRT2	BCKDHA	TBK1	TLR3	LAMA2	CPS1	ATP1A2	ACADM
HP_PHONOPHOBIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHONOPHOBIA	TNF	MLXIPL	EP300	GTF2IRD2	FKBP6	ELN	STX1A	VPS37D	SLC1A3	BAZ1B	BCL7B	TMEM270	GTF2I	EDNRA	NCF1	METTL27	TBL2	CLIP2	RFC2	CREBBP	BUD23	GTF2IRD1	LIMK1	EIF4H	DNAJC30	ESR1
HP_NEUROFIBRILLARY_TANGLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEUROFIBRILLARY_TANGLES	APOE	ABCA7	PSEN2	PSEN1	MAPT	PLA2G6	GRN	ITM2B	HFE	CYLD	NPC1	APP	TOMM40	NPC2	PLAU	SORL1	MPO	TREM2	VPS13C	NOS3	PRNP
HP_APRAXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APRAXIA	KDM6B	ITPR1	LAMA1	CHD3	PTCH1	NTNG2	TMEM67	CPLANE1	MECP2	PSEN2	ZMIZ1	CEP120	PURA	TRMT1	MKS1	MAPT	STUB1	PDX1	BRAF	EXOSC3	SRPX2	STAT3	GBA	KANSL1	XRCC4	INPP5E	SHH	FA2H	ABCA7	KDM4B	PIK3R5	INS	SIX3	PSMD12	TIMM8A	CHCHD10	TGIF1	MED13	TYROBP	CHMP2B	CEP41	VCP	STAG2	DOCK3	DDOST	KDM1A	TREM2	TBP	DLAT	MED27	CLCN3	CC2D2A	PIGW	SYNJ1	TMEM231	CEP290	AHI1	FOXP2	CACNA1G	TMEM216	GCK	PIBF1	GALK1	GRN	CDON	FOXH1	EBF3	DLL1	GPAA1	TCTN1	ATP13A2	FGF8	FGFR1	ZIC2	PACS1	PIGL	ACTL6B	TNRC6B	USP7	GLI2	GALT	EMC10	TOGARAM1	CRKL	PEX2	APP	FOXP1	DPYSL5	TDGF1	TANC2	CHD1	PTPN23	ATXN2	NONO	TRIP12	IFT74	MYO9A	SQSTM1	PSEN1	DDX6	SNX14	GRIN2A	BCAS3	GAS1	MADD	MAPK8IP3	KCNMA1	NTNG1	PALS1	APTX	STIL	PIGV	MAST1	SMC1A	TOMM40	AFG3L2	ATP1A3	C9orf72	TUBB3	FBXW11	WDFY3	PLA2G6	ACTL6A	KIAA0753	CACNA1A	SPG21	PRNP	TMEM107	VPS11	BPTF	TRAPPC11	ATP1A2	TCF20	NKX2-1	TPP1	TMEM237	MRE11	B9D1	NODAL	NPHP1	GRID2	SLC30A9	PLP1	CSPP1	MAPK1	BCORL1	DISP1	RLIM	TMEM106B	KIAA0586	SUFU	CWF19L1	SORL1	TTC19	CCDC32	MYT1L	RPGRIP1L	HS2ST1	SPR	ANKRD17	SOX3	SRCAP	NHLRC1	DNM1L	SMPD1	ATP6AP2	SATB1	TARDBP	SLC12A2	ZC4H2	NGLY1	TREX1	PNKP	HTT	UBR7	KMT2E	KATNIP	CBY1	PGAP3	RNF135	TMEM138	CEP104	CSF1R	GRIA4	HPDL	KIAA1109	APOE	TOE1	PGAP2	FUS	AARS2	ARL3	CDKL5	PI4KA	PANK2	LMBRD2	TCF7L2	UFC1	PUS7	TBK1	ABCC8	BCR	FRRS1L	SVBP	SYNCRIP	PMPCA	HYLS1	ARMC9	SH2B1	PIGO	RAI1	TUBB2B	SPART	AGO2	UBE3A	ARL13B	EPM2A	POU4F1	RNF2	WASF1	RORA	TNR	SLC1A3	SLC25A15	FOXG1	ADGRG1	SPTBN1	ABCD1	CNOT3	SETX	HUWE1	PIGY	PDE6D	GABBR2	KAT8	IFT172	SETD1A	TMEM218	KCNJ11	TRAPPC4	XRCC1	SLC2A1	JARID2	TCTN2
HP_INTELLECTUAL_DISABILITY_PROFOUND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTELLECTUAL_DISABILITY_PROFOUND	GRIN1	SETBP1	FKTN	IL1RAPL1	GAD1	CNPY3	ASXL1	CACNA1I	CLIC2	ADAM22	CLCN4	CDKL5	PIK3R2	KCNJ6	PRICKLE2	CCDC88A	ADAR	DPYD	SEPSECS	CDH15	FGFR3	AP1S2	PRPS1	HSPD1	KIF1A	PIGG	ZNF41	POMT2	PUS3	VARS1	GDI1	MECP2	NGLY1	LARGE1	CAMK2A	HIVEP2	FTSJ1	NSF	POMT1	SLC39A8	OCLN	DLG3	EXOSC5	BUB1B	PPP3CA	IER3IP1	MID2	OFD1	FH	SYNJ1	PAFAH1B1	SLC16A2	RNF113A	RAB18	UGP2	GRIN2B	SET	EEF1A2	ERBB4	WDR45B	MYT1L	TBCD	FKRP	RNF13	CACNG2	PCDH19	SLC9A7	FRMPD4	ST3GAL3	ARX	TBC1D20	ALG13	DYNC1H1	RAB39B	PCDH12	CNKSR2	RNASEH2C	STEEP1	SLC9A6	UBTF	DMXL2	IFIH1	P4HTM	KDM5B	SHROOM4	ZNHIT3	SETD1B	RNASEH2B	CAMK2B	NACC1	MED12L	AGTR2	POMGNT1	FAR1	AIMP2	CRPPA	ARV1	SPTAN1	KCNQ5	MBD5	UNC80	WARS2	ZMYND11	ATP6V1A	DMD	CIC	STRA6	SLC1A2	ARHGEF6	ATP6V1E1	TRPM3	DLL1	EMC1	ASH1L	GUF1	NBEA	IQSEC2	CUX1	KIRREL3	CLTC	ERCC6	ACSL4	DOCK8	PDHA1	RAB11A	UPF3B	NDE1	RPS6KA3	TCF4	PIGU	SYP	CHAMP1	SCN1A	CSNK2B	DEAF1	ASXL3	ZNF711	TREX1	PTCHD1	SMS	TSPAN7	EPB41L1	BRSK2	ATIC	ATP6V0A2	USP27X	SYNGAP1	VPS53	ELOVL4	TAOK1	MED12	LONP1	IDS	TRAPPC4	ZNF81	RNASEH2A	PAK3	USP9X	DPM3	HCFC1	PIGP	SAMHD1
HP_DELAYED_CNS_MYELINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_CNS_MYELINATION	RERE	PKDCC	AP3D1	SLC12A5	TGFB1	YRDC	EXOSC1	SLC35A2	MADD	PLPBP	SLC13A5	EIF2AK2	CLTCL1	TRIM8	POLR2A	UPB1	FAR1	SLC16A2	POU3F3	FRMPD4	ALG14	KIDINS220	SHANK3	SMG9	CLCN3	TRNT1	NCDN	TKFC	EXOC8	FANCB	PIGS	AIFM1	NMNAT1	KDM1A	DHX37	DDX6	TNR	ITPA	VPS11	MMUT	NUP188	PIGU	TBC1D24	D2HGDH	ZMIZ1	MORC2	UGDH	ACY1	CNOT3	NARS1	PGAP1	PEX7	GRIK2	STXBP1	PPIL1	BMP4	CARS1	POGZ	ATP6AP2	CDK19	GNB2	CDC40	ALDH5A1	NRROS	ARID1B	TMEM240	SETD1A	LMX1B	RNF13	PHACTR1	TMEM63A	TNPO2	HS2ST1	CUL3	SMPD1	ALDH7A1	VPS33A	TXN2	RBM8A	FOXP1	ALG9	MLYCD	ZC4H2	RAB3GAP1	CTNNB1	RNU7-1	ACTL6B	ADARB1	TIMM22
HP_CHOROID_PLEXUS_CYST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOROID_PLEXUS_CYST	ZSWIM6	PHGDH	NPHP3	SETBP1	FH	FOXF1	IFT43	EXOC8
HP_PROGRESSIVE_SPASTICITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_SPASTICITY	GM2A	ARG1	ATP13A2	GLRX5	SELENOI	PAFAH1B1	PSAP	PLAA	ARSA	GALC	DEGS1	FA2H	OPA1	TBCD	DARS2	HSPD1	MECP2	ACP5	SPTBN1	SPG11	RPS6KA3	PLP1	NKX6-2	POLG	MSL3	PLA2G6	GJC2	NADK2
HP_DELAYED_GROSS_MOTOR_DEVELOPMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_GROSS_MOTOR_DEVELOPMENT	SLC6A3	CHD3	TGFB3	NTNG2	MECP2	SELENOI	ALS2	ZMIZ1	BIN1	SEMA6B	TRMT1	BRAT1	POLR3K	HK1	FRMPD4	FAR1	KIDINS220	FLVCR1	ABCA2	CHRNE	LMNB1	DOCK3	MAPK8IP3	AGRN	FBXO11	PNP	RAB11B	RYR1	YY1	CDH2	MED27	JAG1	AHDC1	PAK1	MPZ	MORC2	SUCLA2	SET	GRIK2	DSE	CLCN7	MYF6	SLC5A7	EBF3	LRP5	FTSJ1	LAMA2	PHKB	BRPF1	PTEN	ACTL6B	ATG7	EMC10	KY	DPYSL5	CNTNAP2	GLS	PHKG2	MID1	CLP1	PTPN23	PACS2	TRIP12	TIMM50	SMC1A	NAA10	IQSEC1	PLEC	KCNMA1	WDR4	NTNG1	ZEB2	KMT2C	CLCN3	TRNT1	COPB1	NCDN	FKRP	KARS1	CPLX1	FGF3	FBXW11	WDFY3	ALMS1	RAB3GAP1	TCF20	RUBCN	FUS	BPTF	WDR26	ATP10A	CHRNB1	TMEM94	HARS1	REPS1	ZSWIM6	NPHP1	NARS1	CYP3A4	SYT1	ARID1B	GJC2	CHRNA1	BCORL1	RLIM	FBLN1	TMEM63A	RAPSN	LMNB2	GALNT2	TANGO2	EHMT1	CCDC32	MAGEL2	FIG4	CDK13	MYT1L	PRMT7	FASTKD2	GRIN1	PLOD1	DYNC1I2	SPTLC1	DNM2	FBXL3	SIGMAR1	CADM3	ERLIN2	POLR2A	ADCY5	TRRAP	SLC12A2	RAB3GAP2	FLRT1	DHX30	NGLY1	GALE	TMTC3	UBR7	KMT2E	BMP1	KIF14	TNRC6B	CLPB	UBE3A	GRIA4	CLDN11	CASK	HPDL	CDC40	RUSC2	CAMK2A	PHEX	CDKL5	NDUFA12	NONO	MSL3	TNPO3	NFASC	TCF7L2	ADARB1	PUS7	BCL11B	SELENON	SLC25A42	SYNCRIP	PMPCA	SPOP	NDUFA1	COL1A1	MEG3	AGO2	ARL13B	SMARCA2	CFL2	RNF2	SDHB	BSND	LRRC32	TRAPPC9	PNPLA2	PGAP1	TMEM222	SPTBN1	KDM3B	DAG1	MESD	PIGO	SETD5	PIGC	EP300	SATB1	CNOT3	YARS1	TAF1	AHI1	HNRNPK	GABBR2	KAT8	SETD1A	KIAA0753	KLC2	WASF1	AMN	NBEA	ITPR1	TTN	YIF1B	SUPT16H	RAI1	RALA	VPS35L	KDM4B	TRIM8	TBR1	BCAS3	PIEZO2	INPP5E	HERC2	DOK7	ATG5	PSMD12	MED13	RNU12	ATP6V1A	DLAT	COL12A1	XYLT1	ALG12	SCN4A	VPS51	SLC16A2	ZNF148	SNRPN	PPP2R1A	NEXMIF	CUL3	MTMR14	LSS	KDM5B	HUWE1	FOXP1	COL13A1	MINPP1	DOLK	CHRND	AP3B2	TANC2	GAA	MTPAP	MYO9A	DDX6	MFN2	PLP1	DYNC1H1	DPM3	SHOC2	COL1A2	MADD	CNKSR2	PALS1	CSNK2B	TET3	MUSK	COG1	FDXR	TUBB3	ACTL6A	DHPS	TNNT1	MBOAT7	TK2	ZNF407	PHKA2	AMPD2	HS6ST2	PCYT2	SLC37A4	STAG2	SLC9A7	MT-TE	LARS1	PIGG	HS2ST1	ANKRD17	SRCAP	HOXA1	SMPD1	ACTN2	SCN2A	RTL1	PPP2CA	APC2	MRPS25	NCAPG2	SPTBN4	PPP2R5D	NMNAT1	KMT2A	LRP4	KDM1A	HTT	HECW2	CHST3	MRPS14	UGDH	CREBBP	RPL10	CELF2	PAFAH1B1	OPHN1	CLCNKB	CHST14	CUBN	SLC18A2	KPTN	MRAS	UBE2A	LMBRD2	SNX14	SLC25A1	P4HTM	GARS1	SPG11	SVBP	SYNE1	POMT2	ASXL3	RORA	NDUFA8	FOXG1	SHMT2	SMARCD1	CARS1	SON	NEUROD2	FITM2	PAK3	AK9	MYH7	ODC1	TRIM2	EXTL3	DLK1	TRAPPC4	OTUD6B	DPF2	TRIO	DNAJC19	CWC27	ZC4H2	JARID2	KLHL15	CLCNKA	TRMU
HP_DYSGENESIS_OF_THE_CEREBELLAR_VERMIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSGENESIS_OF_THE_CEREBELLAR_VERMIS	KIAA0586	RAC1	TMEM216	ODC1	CSPP1	INPP5E	KIAA0753
HP_MYELOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYELOPATHY	ARSB	DKK1	RASA1	NAXE	EXT1	ABCD1	BTD	NMNAT1	NF2	GALNS	EXT2	GLB1	GNPTAB	COL2A1	CYP27A1
HP_GENERALIZED_ONSET_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_ONSET_SEIZURE	UBE3A	DCPS	CACNA1I	SZT2	NCDN	CLCN4	PDX1	GBA	KANSL1	DPM1	DPM2	KIF4A	FAR1	KCNQ2	MT-ND3	CDH15	INS	TBCD	SCN2A	GABRA1	CLCN2	YEATS2	ERCC3	AP2M1	MTHFR	NHLRC1	ATAD3A	MPLKIP	SCN1A	SCN9A	GCK	GABRG2	CILK1	NFKB2	ERBB4	MYT1L	RPL10	CACNG2	GTF2E2	MT-TP	COG2	MT-TI	ASAH1	DOCK7	LAMA2	TREX1	CSTB	C12orf4	GNAO1	CC2D1A	ADGRV1	WAC	CNTN2	GOSR2	PRICKLE1	CAMK2B	JRK	TBC1D24	FMN2	ZMYND11	NTNG1	ZEB2	ARHGEF6	TRPM3	GALC	DLL1	ASH1L	AFG3L2	ADRA2B	SLC2A1	IQSEC2	KNSTRN	KARS1	CPLX1	ALMS1	HNMT	WDR26	CHAMP1	GABRB3	HACE1	DEAF1	NDE1	KCNA1	ACSF3	SMC1A	ZNF711	TARS1	GABRD	DNM1L	PLP1	SMS	MARCHF6	GABRA5	GLB1	PCDH19	NARS1	TSEN54	CUX2	TUSC3	VPS53	XK	LMAN2L	TANGO2	MT-TW	NSUN2	STX1B	USP9X	HCN1	NEXMIF	MT-ND1	GRIN1	SLC35A3	CHD2	DHFR	ADGRG1	PIK3CD	ALDH7A1	TMX2	CLIP1	PRICKLE2	EHMT1	KCNMA1	EFHC1	SMARCA2	PTEN	LNPK	SLC6A1	WASHC4	NGLY1	PGAP1	FGFR3	CACNB4	CAMK2A	ALDH5A1	KCNQ3	DLG3	BUB1B	PPP3CA	CARS2	GAMT	RORB	PIGM	SLC25A15	SAMD12	KCTD7	SET	SPATA5	MT-TK	NAA20	COQ5	SON	TECR	FBXO31	MFSD8	PLAGL1	FRMPD4	SIK1	CDKL5	ANO10	DYNC1H1	RAB39B	PCDH12	GRM7	BRAT1	ARX	KDM5B	PNKP	SPATA5L1	DMXL2	SETD1B	PRSS12	CASK	AGTR2	SCN1B	NDUFA1	GRIN2A	SATB2	PLCB1	METTL23	ST3GAL3	EPM2A	SCARB2	CLTC	CACNA1A	RAB11A	MT-ND6	EDC3	MED23	CSNK2B	HYMAI	SCN8A	SATB1	GLUD1	DNM1	ATP1A1	YARS1	SDHAF1	USP27X	ELOVL4	HNRNPK	CTNND2	MT-TQ	SDHD	GABBR2	ZNF81	PAK3	MECP2	PRRT2	SRPX2	NBEA	GATAD2B	PURA	NEUROD2	TRIM8	TRIT1	MTOR	CEP85L	STAT3	MED25	PIGC	LGI1	ZC3H14	KIF1A	ZNF41	GDI1	KCNT2	SDHA	FTSJ1	OSTM1	PSAP	DEPDC5	TRAPPC9	SARS1	IER3IP1	MT-ND5	KCNB1	GPAA1	SLC9A7	DCX	MT-TL1	PTRH2	CNKSR2	DPAGT1	NSD1	PIGT	MED13	IQSEC1	MED12L	DPM3	SETD2	TSEN34	MBD5	PIGQ	DMD	CIC	FRRS1L	CACNA1H	TSEN15	SYNGAP1	SEPSECS	CUX1	KIRREL3	ACSL4	PRDM8	MBOAT7	TCF4	NUBPL	SYP	GTF2H5	CRBN	TSPAN7	TTC5	EPB41L1	SLC25A22	PCYT2	LINS1	MED12	MAPK1	ERCC2	ALDH4A1	UBE4A	EZR	MT-TF	APC2	AFF3	RSRC1	MT-RNR1	TNIK	IL1RAPL1	GAD1	MT-TH	SMPD1	DYRK1A	OPHN1	GPHN	HCN2	TSEN2	EXOC8	SDHB	HIVEP2	CLN5	ARHGEF9	GRN	PHGDH	UFSP2	CLN8	CNTNAP2	MID2	PAFAH1B1	NDST1	SLC12A5	STXBP1	GRIN2B	EEF1A2	RNF113A	SLC12A2	ALG13	STEEP1	SLC9A6	MT-TV	MT-ATP6	RELN	ABCC8	PLAA	COX8A	SLC45A1	B3GALNT2	PLPBP	BTD	SLC13A5	GRIK2	MT-ND2	KCNQ5	CRADD	MT-TS2	MT-ND4	ALKBH8	KCNJ10	AIMP1	DOCK8	UPF3B	RPS6KA3	SEC31A	MAN1B1	TK2	PIGA	NUS1	ASPA	PTCHD1	BRSK2	TAOK1	MAPK10	PIGP	DHDDS	EXTL3	KCNJ11	NEMF	ATXN10	AP1G1	RNU4ATAC	FTL	HCFC1	NEU1
HP_DILATED_FOURTH_VENTRICLE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DILATED_FOURTH_VENTRICLE	HRAS	GPC3	LAMA1	B9D2	AFF3	FKTN	OFD1	ZIC1	ASXL1	B3GALNT2	TMEM216	ARID2	MRE11	POMGNT1	PLG	CDKN1C	KRAS	CDC42	DPH1	KIAA0586	USP9X	CEP120	C2CD3	TBC1D24	EBP	KCNQ1OT1	ATXN3	DAG1	IGF2	TCTN2	ATP6V0A2	ATXN1	POMT1	DPF2	NPHP3	DYNC2I2	TMEM231	RXYLT1	NIPA1	BUB1B	FKRP	MAB21L1	GRM1	TMEM138	DOK7	VPS51	TUBB	RAPSN	TUBG1	POMT2	NIPA2	RNF113A	B9D1	CSPP1	CCDC22	CASK	KIF7	TMEM237	SMARCD1	SMARCA4	TCTN3	SEMA3E	B4GALT1	POMK	ARMC9	LARGE1	EVC2	CPT2	SLC18A3	TXNDC15	PMM2	TCTN1	PIEZO2	MID1	EVC	PHGDH	ATXN2	RAC1	NRAS	FLVCR2	SOX4	PMPCA	SMARCB1	CEP290	FGFR1	FAR1	SMARCC2	CRPPA	WARS2	PPP1CB	ATP6V1A	DENND5A	GLI3	ALG3	ATP6V1E1	WDR73	HYLS1	SMG9	WASHC5	NUP88	TMEM107	ARID1A	COX20	B4GAT1	COL4A1	BUB1	SLC35A2	GMPPB	TMEM67	KCNQ1	POLR3A	RPGRIP1L	GPC4	DYNC2I1	WDR81	MKS1	POMGNT2	TRIP13	SOX11	AP1S2	GJB2	CC2D2A	MUSK	SMARCE1	ARID1B	CHD7	DPYSL5	RPGRIP1	IFT80	DYNC2H1	BUB3	DHCR7	PIGN	CEP57	GJB6	FTO	MYOD1	BCOR	WDR35	ATP6V1B2	EXOC2
HP_HYPOCALCEMIC_SEIZURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOCALCEMIC_SEIZURES	GCM2	FAM111A	CYP27B1	TBCE	STX16	VDR	CYP2R1	GNAS	TNFRSF11A	GATA3
HP_PSEUDOBULBAR_SIGNS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSEUDOBULBAR_SIGNS	GM2A	SPG7	NONO	ERLIN2	ALS2	ADGRG1	LMNB1	ALDH18A1	NEFH	PUS3	HMBS	NOTCH3	PRPH	HTRA1	DNMT1	DCTN1	ADSS1	SRPX2	FBLN1	RARS1	B4GALNT1	ASPA	ZFYVE26	PI4KA	AP4M1	CYP27A1	FIG4	SOD1	SEC31A	TGM6
HP_PLEURAL_EFFUSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PLEURAL_EFFUSION	FSHR	BCL6	LACC1	IL12A-AS1	CYBC1	BMP2	IL12A	HLA-DRB1	IFNGR1	MEFV	EPHB4	CFH	ITK	CCND1	PLVAP	BRAF	PRSS1	BCL2	BAP1	PTPN11	GPR35	TAPT1	CBL	C4A	MAP2K1	NR1H4	CCBE1	TLR4	LYST	MST1	DNASE1L3	CFTR	FAT4	FOXF1	RIT1	BTNL2	IL10	SEMA4D	PIEZO1	TCF4	KIF11	KLRC4	ADAMTS3	CD46	IL6	HLA-B	MIF	TSC2	SOX18	ZNFX1	VPS51	CCR1	ERAP1	EIF2AK4	HELLPAR	TSC1	SPP1	LZTR1	HFE	ALG14	IL23R	CFI	CALCRL	PRSS2	IRAK1	CTRC	RASA1	DEF6	SPINK1	FAS	LBR	STAT4	UBAC2	MYD88
HP_RESPIRATORY_PARALYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESPIRATORY_PARALYSIS	CACNA1S	HMBS	GABRA3	SCN4A	KCNJ18	CPOX	ALAD	KCNE3	PPOX
HP_PULMONARY_EMBOLISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_EMBOLISM	HLA-B	IL12A-AS1	SERPINC1	PROC	IL12A	CCR1	ERAP1	IFNGR1	MEFV	GDF2	PROS1	IL23R	HABP2	C4A	ENG	TLR4	MPL	CBS	MTHFR	KCNJ5	TET2	AGGF1	IL10	F2	FAS	CD55	JAK2	GNAQ	STAT4	PTEN	ACVRL1	AKT1	UBAC2	PLP1	SMAD4	MMACHC	PIGA	F13A1	KLRC4
HP_RECURRENT_RESPIRATORY_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_RESPIRATORY_INFECTIONS	HYDIN	CIITA	ELN	LCK	DKC1	MYO9A	WAS	AGRN	TBCE	TIMMDC1	PYROXD1	CCDC40	FCGR2A	NDN	RIPK1	POLA1	TNNT2	KANSL1	DPM2	PIK3CD	JAK3	COL6A1	LEPR	AGA	IL6ST	PIK3R1	DNAAF5	RYR1	RAG1	GTF2I	SNRPN	NFE2L2	CTLA4	AK2	NCF1	ARSL	DNAAF2	LMNB1	COL6A2	ROR2	ZNHIT3	TNFRSF13B	PNP	SCN9A	SUCLG1	EIF4H	TCF3	TAP1	NELFA	RUNX2	LAMTOR2	DZIP1L	ERCC3	IGKC	TTC26	TTC12	MPLKIP	SDCCAG8	PEX5	PSAP	SLC25A1	FBLN5	USB1	LETM1	ODAD4	LRRC56	SCNN1A	UMPS	WDR19	ALOXE3	CD3D	RSPH1	NFKB2	SMARCA4	TBCD	XIAP	CTC1	DDR2	TECPR2	DNAI1	COLQ	GTF2E2	ALB	OFD1	STAT1	TAPBP	ASAH1	FOXN1	GBA	CRKL	IRF2BP2	LAMA2	BLNK	SMN1	LTBP1	MS4A1	TBX6	ERF	FOXJ1	CASP8	DNAH1	CORO1A	DNAAF1	SH3KBP1	TFRC	EHMT1	WAC	ITGA7	LRRC8A	GMNN	NAGLU	IGHM	SMARCB1	STAT3	PLEC	ABCA12	MASP2	SLC1A4	RSPH9	CPLX1	SREBF1	LEP	BCL7B	SLC35C1	MIF	CFAP300	ARID1A	HLA-DPA1	TGFB1	CHAMP1	ELANE	COL6A3	SGSH	CACNA1B	MSN	SRP54	ALMS1	MKRN3	DNAAF6	RTEL1	BIRC3	NFKBIA	TASP1	DNAH5	NEPRO	FUCA1	SOX11	MAGEL2	MED25	ODAD3	TARS1	TONSL	ARID1B	HYOU1	MAP3K20	CSPP1	NXN	DNAJB13	SCN10A	GCLC	SCNN1B	METTL27	KATNIP	NPAP1	IGLL1	CFAP298	CREBBP	ACTA1	RPGR	RSPH3	TRIP4	NKX2-1	NCF4	GATA2	LRBA	FLNA	OCA2	SP110	PKHD1	EPG5	SCNN1G	PTPN22	COL5A1	PLOD1	IDS	EFEMP2	MESP2	MYPN	ASXL1	MYL9	CHRM3	CEACAM6	POLR2A	KCNJ6	TP73	COL13A1	PLG	GALNS	DNAAF4	SLC41A1	DRC1	CCDC39	SLC46A1	IL21	USP9X	DNAAF11	IL17RA	RAB3GAP2	SPAG1	COL4A6	ODAD1	RFC2	DNMT3B	NGLY1	CD19	SMARCD2	CYBB	TYK2	ADAMTS3	CD79B	TNFRSF1A	MGP	TPM2	FKBP6	SLC5A7	UNG	CR2	IL2RB	RFX5	SMARCD1	TNFRSF13C	NFKB1	EGFR	HELLS	ICOS	FOXP1	CCDC65	SDR9C7	IGHG2	AP3B1	PRPS1	PLCG2	CTBP1	BUD23	TERC	RFXAP	DNAJC30	MBTPS2	SLC6A14	FOXP3	TRAIP	GLI3	SH2D1A	CFTR	PCNT	RNU4ATAC	IL2RG	FLI1	SIAH1	CYBC1	SNX10	KRT5	IGBP1	MYSM1	VPS37D	AASS	DCLRE1C	SAMD9L	GUSB	ELP1	EP300	SFTPC	GAS2L2	KIF1A	PRTN3	LYST	CYP4F22	HACD1	SMARCA2	SLC26A2	ODAD2	LIPN	SNORD115-1	TBC1D24	PEPD	SLC29A3	HLA-DPB1	CFAP410	EXOSC9	CXCR4	ARSB	CCDC103	BTK	ZNFX1	IRAK4	KCNN4	SATB1	B2M	IFIH1	TERT	SMPD1	ORC6	PRKCD	COG4	DNAH11	PRKDC	GSTM3	IVNS1ABP	SNORD116-1	IKBKB	MCM4	ADA2	COG6	MCIDAS	CFAP221	EDARADD	GNPTAB	TNFRSF11A	FLNC	PIGG	MLXIPL	ZMYND10	ALDH18A1	STING1	PURA	GFI1	ARID2	CD8A	RFXANK	TET2	HLA-B	INPPL1	CD79A	PET117	ZBTB24	DSG1	CTCF	ZNF341	CLEC7A	LIMK1	VPS33A	COL5A2	RAC2	COL11A2	PSMB8	DOCK8	PGM3	KAT6B	IER3IP1	ALG12	AICDA	IRF8	VPS51	CARD10	RELB	GAS8	TSC1	UGP2	CD3E	IDUA	CD40LG	DNAAF3	SLC26A9	BACH2	IL17RC	NSD2	NCF2	TPM3	NECTIN1	CD247	KIF20A	SNAP25	UNC119	TNFSF12	ALPL	NOTCH2	NRAS	IL17F	DCTN4	MANBA	CTSC	IDH1	CARD11	FCN3	ECM1	HPS6	SPEF2	DYNC2I2	AP3D1	CD27	CD81	MTM1	NIPAL4	SYT2	TNNI3	SOX4	MDM4	LAMB2	CFI	TPP2	SMARCC2	CHAT	NPM1	WASHC5	CLCN7	ALOX12B	RAC1	MECP2	EDNRA	OCRL	IL7R	NBN	TBC1D23	POLR3A	IL6R	SLC9A3	TSC2	SETBP1	TNFSF11	P4HA2	GTF2H5	HGSNAT	MGAT2	SMARCE1	MYL2	SLC25A22	GLB1	MAPK1	TBL2	ITCH	CDCA7	ERCC2	NHP2	TRAF3IP2	TLL1	PWAR1	TRIM37	PARN	DYM	TCIRG1	CARMIL2	CCNO	CYBA	MYH3	ADNP	GNS	CLCA4	G6PC3	RAG2	STK36	CD3G	IKZF1	KIAA0586	STXBP2	TMEM270	VAMP1	DNAL1	B3GALT6	FAT4	HFE	ACP5	MAGT1	SPTBN4	HMOX1	ATP6V0A2	DPF2	KRAS	RASGRP1	MYO5A	TRIP11	MTHFD1	KDM5C	SIM1	DNAI2	SCN11A	STX1A	DLL3	RSPH4A	IL2RA	BAZ1B	DNAH9	ATM	RNF113A	COL4A5	SLC18A3	JAGN1	TCTN3	KPTN	WIPF1	NEK10	RNF168	TOM1	POLE	UBE2A	SIK1	PLP1	ITGA3	P4HTM	SHROOM4	SELENON	CEACAM3	BCR	GTF2IRD2	HLA-DRB1	CCDC22	PCGF2	MIR140	NOP10	BLM	FMO3	HERC2	IL21R	GLUL	TAOK1	CCBE1	TRPS1	LAT	FCHO1	STX3	NME8	PWRN1	SULT2B1	GAA	PKP1	SOCS1	TGM1	FCGR3A	TK2	ZAP70	SPINK5	TINF2	WDR1	WRAP53	SLC11A1	ADA	PPP1R21	CLIP2	TAP2	NDUFC2	EXTL3	GTF2IRD1	BCL10	SLC52A3	SERPINA1	CD4	MALT1
HP_PULMONARY_FIBROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_FIBROSIS	FASLG	TERC	IRF5	BMP15	STING1	CEACAM6	SPIDR	CLCA4	GBA	TINF2	PRKCD	PARN	SLC34A1	CTLA4	POLR3H	SFTPC	CCR6	RASGRP1	HFE	TERT	BTNL2	HMOX1	HPS4	ABCA3	NDUFAF6	SFTPA1	STX1A	SLC26A9	ZCCHC8	BACH2	CASP10	CCN2	RAC2	AP3B1	MARS1	RNF168	TOM1	DCTN4	NHP2	MUC5B	SLC6A14	RTEL1	SFTPA2	HLA-B	DSP	CEACAM3	CYBC1	NOP10	FAS	BNC1	DKC1	CFTR	PLEC	RCBTB1	EHHADH	FAM13A	HPS1	PRTN3	KIAA0319L	MIF	EDNRA	HLA-DPA1	TGFB1	CAV1	IL1RN	HLA-DPB1	SLC9A3	NKX2-1	PSMC3IP	SLC34A2	KCNN4	ATP11A	THOC2	SLC11A1	NUP107	HLA-DRB1	DPP9	GCLC	FSHR	GSTM3	NR5A1	MRPS22	SERPINA1	FAM111B	PTPN22	GATM	SP110	STN1
HP_COARSE_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COARSE_HAIR	IKBKG	RASA2	SLC25A24	OFD1	SEC23A	NOTCH3	NAGLU	GNS	BCS1L	SMARCAL1	PLOD3	RRAS	TGM3	MRAS	SREBF1	PPP1CB	ATP6V1A	ERCC3	RIT1	CCDC47	ATP6V1E1	TP63	RAF1	NECTIN4	EBP	ATP7A	HR	KRAS	SOS1	SGSH	GON7	ATP6V0A2	SUMF1	GUSB	EPS8L3	SPRED2	TMCO1	HGSNAT	KRT74	NRAS	PADI3	SOS2	CERT1	CBL	RRAS2	NOTCH2	RPS6KA3	VPS33A	LPAR6	FLNA	LZTR1	PTPN11
HP_SPARSE_SCALP_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPARSE_SCALP_HAIR	MAF	APC2	CENPJ	DSC3	ADNP	SMARCB1	RTEL1	KAT6B	ATR	ARID2	CLDN1	RIPK4	PRKD1	ITGB6	LSS	AHSG	FAS	TP63	NUP85	WNT10A	FIG4	NECTIN4	RECQL4	CEP152	DPF2	HDAC4	KDM1A	KANK2	BRAF	APCDD1	ATRIP	ERCC3	LIG4	HLA-DRA	VAC14	LPAR6	MPLKIP	BICRA	CDH3	ZBTB20	ODC1	KRT17	SMARCC2	SMARCD1	SMARCA4	RNF113A	USP8	WRN	RIN2	GTF2E2	CBS	PLK4	NHP2	RPL21	TERT	NSD1	ITGA3	CENPE	PCNT	SPINK5	SLC25A24	NOP10	KRT74	GJA1	SOX4	PCGF2	B4GALT7	SMARCA2	PARN	DKC1	CDH23	GJB6	SETD2	SHOC2	DPH1	LIPH	ARID1A	B3GALT6	PPP1CB	IGF1R	BANF1	CDSN	HR	OCRL	DSG4	KRT25	LMNA	PTPN22	POLR3A	IPO8	TINF2	NEPRO	NTRK1	TRAIP	EXT1	SOX11	EPS8L3	SOX18	MED25	GTF2H5	SMARCE1	TARS1	NSUN2	ARID1B	GNB2	UBR1	ACD	JUP	EIF5A	SNRPE	RNU4ATAC	KIFBP	ERCC2	TRPS1	RBBP8	AXIN2	EDARADD
HP_WHITE_FORELOCK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WHITE_FORELOCK	SNAI2	KITLG	SOX10	MITF	TYR	KIT	WRN	EDNRB	PAX3	LMNA	EDN3	TFAP2A	PEPD
HP_CURLY_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CURLY_HAIR	RAF1	TTC37	HNRNPH2	SON	GNB2	BRAF	LZTR1	MTOR	RIPK4	DPYSL5	SHOC2	NRAS	SOS2	PPP1CB	MAP2K1	JUP	CCDC47	TCHH	CERT1	USP9X	GJA1	RIT1	ST14	HRAS	AFF4	KRT25	SOS1	CDK13	KRAS	GAN
HP_FINE_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FINE_HAIR	IKBKG	IFT122	EDARADD	SMAD4	MSX1	ABCD1	TP63	KRT74	EED	KRT81	ALX4	NAA10	KRT25	KAT6B	PIGL	EDAR	KRT83	SMARCAL1	TRIM8	TWIST2	GJB6	PPP1R15B	SIN3B	RMRP	LIPH	KRT86	WNT10A	CBL	LPAR6	MAP2K1	TRPS1	MED12	EZH2	KCTD1	CDSN	KRT71	TRMT10A	GJA1	OCRL	MAP2K2	ALMS1	LIG4	SATB2	SLC7A7	CDH3	SPINK5	SUOX	TTC37	BRF1	RLIM	SIN3A	NSD1	CARS1	NSUN2	IFT43	DCAF17	RAF1	TINF2	PYCR1	DSG4	HPD	KRAS	SUZ12	CSTB	WDR35	NBAS	ERCC2	ITGA3	BRAF	PCNT	GATAD2B	COL3A1	GNPTAB
HP_PREMATURE_GRAYING_OF_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_GRAYING_OF_HAIR	SNAI2	SOX10	TERC	MYO5A	DKC1	RTEL1	MLXIPL	PARN	TYR	NOP10	NPM1	TINF2	FAS	USB1	LMNA	TERT	RECQL4	MITF	PAX3	PTPN22	TFAP2A	PSMB8	KITLG	INSR	ELN	RAB27A	ERCC6	WRAP53	STN1	ATM	ACD	MDM2	CTC1	BRCC3	WRN	EDNRB	EDN3	NHP2	MTAP	ERCC8	ZNF699	DSTYK
HP_SILVER_GRAY_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SILVER_GRAY_HAIR	RAB27A	LYST	DSTYK	MYO5A	MLPH
HP_FACIAL_HYPERTRICHOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_HYPERTRICHOSIS	HFE	HDAC8	RAD21	ATP6V1B2	KDM4B	TRIM8	BCAS3	TTI2	AIP	CDC42	TBCD	CTCF	XYLT1	KDM1A	RPS23	CDH2	KCNK4	HSPA9	PAX3	TRIO	HMGA2	COX5A	MAB21L1	TRMT1	UGP2	CHRNA7	FGFR1	EBF3	PACS1	ARX	CERT1	NECTIN1	CDH11	NOTCH2	DOCK7	VPS33A	TAF6	DDB1	ZNF699	SNAI2	RAB3GAP1	SMC3	ERLIN2	MED13	SLC25A24	PACS2	EHMT1	FGF3	WAC	TBCK	SMC1A	KATNB1	NAGLU	SLC1A4	PPP1R15B	FHL1	FREM1	HNRNPU	SOX10	PHF8	BMP2	SETBP1	NANS	CLCN3	TRAPPC9	SMS	SPTBN1	CHSY1	SGSH	RAI1	KCNN3	NIPBL	TASP1	SETD5	UQCC2	UROS	ZNF407	TMEM94	HGSNAT	KLF13	GNB2	ARID1B	PIGN	CWF19L1	PSMC3	TMCO1	IL1RAPL1	MAP1B	EDN3	AFF3	SPEN	ADAT3	ASXL1	GNS	LEMD3	NSUN2	NFIX	STAG1	CCDC47	INSR	KCNH1	BPTF	MITF	DHX30	NMNAT1	KMT2A	KIT	CDON	PRR12	UGDH	TALDO1	BICRA	KIFBP	ZBTB20	BRD4	RUSC2	TAF1	ANKRD11	ARL3	EDNRB	UBE2A	CDK10	CUL4B	PRKG2	SNX14	ABCC9	GPR101	PHIP	CDKL5	FLII	GNE	UROD	EMC10	SPOP	TUBGCP2	DEAF1	ABCA5	IGF1R	ZIC2	TRMT10A	SMARCA2	MED27	ZNF292	ASXL3	ALG9	TFE3	WNT4	POLR3A	CSNK2A1	PSMD12	GATA1	ZNF711	B3GLCT	KNL1	IQSEC2	AFF4	SMCHD1	KCNMA1	OGT	AMMECR1	MBD5
HP_ABSENT_AXILLARY_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_AXILLARY_HAIR	PPP2R3C	GJB6	EPS8L3	ZBTB20	CYP17A1	AR	TBX3	SNRPE	APOE
HP_ABSENT_EYEBROW	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_EYEBROW	UBE3B	SOX18	ODC1	TWIST2	GJA1	EDA	SMARCA2	TTC7A	ZMPSTE24	RIPK4	LMNA	BRAF	GJB6	KRT85	ALX1	UROS	MAP2K2	RECQL4	MBTPS2	HR	DSP	CDH3	JUP	FRAS1	AXIN2	ANAPC1	KRAS	CWC27
HP_WOOLLY_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WOOLLY_HAIR	TTC37	PERP	MPLKIP	KRT25	LIPH	KRT74	DSP	SKIV2L	EFNB1	TGM3	PADI3	LPAR6	JUP	CCDC47	HRAS	KRT71	KANK2	GAN	ATP7A	DSC2
HP_WHITE_EYEBROW	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WHITE_EYEBROW	PAX3	MC1R	MITF	SOX10	EDN3	EDNRB	TYRP1	OCA2	SNAI2	KIT
HP_GENERALIZED_HIRSUTISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_HIRSUTISM	GJA1	IDUA	BBS7	TWIST2	PPARG	HSPG2	GNE	HDAC8	SPEN	RAD21	ARL6	TRIM32	RERE	KCNAB2	KCNJ8	BBS12	ABCC9	INSR	AIP	BBIP1	NIPBL	ABCA5	SUCLA2	RAB3GAP1	GJB4	IFT172	GJB3	LUZP1	TBC1D20	BBS2	BBS4	MKS1	BBS1	NRAS	ARX	RAB3GAP2	WDPCP	KMT2A	CFAP418	PTEN	TTC8	MMP23B	LZTFL1	PEPD	SDCCAG8	BBS9	TUBB	SMO	IFT27	PDPN	PRKCZ	SLC25A24	BRD4	MC1R	MAPRE2	IRF6	PRDM16	GABRD	SKI	TWIST1	BSCL2	BBS5	RAB18	UBE4B	MKKS	CYP19A1	IFT74	NPHP1	LMNA	CASZ1	NFIX	CEP290	SCAPER	CEP19	LMNB2	MAPK1	NOTCH2	BBS10	UBE2A	CTSC	AKT1	KDSR	ELMO2	PRKG2	SMC1A	SMC3	GPR101	MBD5
HP_SPARSE_BODY_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPARSE_BODY_HAIR	GNRHR	PROK2	DSC3	TACR3	KISS1R	KRT25	CLDN1	FGF17	ITGB6	ITGB4	LSS	AHSG	LIPH	WNT10A	LPAR6	JUP	KLHL24	KRT71	LMNA	TRAF6	DSG4	SPRY4	LAMA3	COL17A1	KANK2	APCDD1	KRT74	LAMC2	LAMB3	KISS1	TAC3	ZBTB20	NSMF	SOX18	CYB5A	TP63	EDA	KRT85	FMR1	PROKR2	CHD7	FGF8	SNRPE	CST6	WDR11	HS6ST1	KDF1	FGFR1	GNRH1	RPL21	CTSC	EDARADD	CDH3	EDA2R	HRURF	AXIN2	CYP17A1	DUSP6	EDAR
HP_PATCHY_ALOPECIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATCHY_ALOPECIA	IKBKG	PORCN	KDM5C	BLM	COL17A1	NECTIN4	EBP	ECM1	KRT81	TP63	HR	ZMPSTE24	KRT83	LMNA	TGM3	IL2RA	ITGB4	KRT86	DSG4	PADI3
HP_PILI_CANALICULI	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PILI_CANALICULI	TCHH	TGM3	PADI3	TP63	GAN	SKIV2L
HP_GASTROINTESTINAL_HEMORRHAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROINTESTINAL_HEMORRHAGE	EOGT	APC	IL12A-AS1	RUNX1	ENG	STK11	COMT	IL12A	LBR	SLC25A13	WAS	MYC	PLOD1	SDHD	CDKN2B	CISD2	IRF4	SDHC	ITGB3	ITGA2B	PRKCSH	FAH	SMAD4	MLH3	ENPP1	IKZF1	TBX1	TLR4	FGA	CTLA4	F5	ABCC6	TGFBR2	BMPR1A	TET2	IL10	FGG	KIF23	XYLT1	SERPINE1	MED12	CDKN1A	F8	DZIP1L	GFI1B	WFS1	MSH2	HLA-B	PUF60	KRAS	JAK2	VWF	PMS1	CASP10	ERAP1	GP1BA	SRSF2	ATRX	GDF2	TSC1	ALDOB	FCGR2C	PTEN	CDKN1B	DOCK6	STN1	MLH1	ARVCF	FGB	MCFD2	SEC63	MPL	MPI	CBS	TNXB	GP1BB	WIPF1	F2	UFD1	TEK	TREX1	F9	STAT4	UBAC2	LMAN1	ATP7A	F10	JMJD1C	MVK	IFNGR1	CBL	MEFV	HSD3B7	HIRA	ARHGAP31	MSH6	PLVAP	CALR	RPS20	MEN1	SREBF1	C4A	TAOK1	HPS1	PRTN3	PDGFRA	HPGD	TTC7A	HLA-DPA1	TNFRSF1A	SEMA4A	GP9	AMACR	KIT	CTC1	ACVRL1	IL10RA	FAN1	DLL4	HLA-DPB1	KLRC4	SDHA	LRP5	TSC2	EPCAM	XYLT2	NOTCH1	CCR1	SDHB	ITGA2	F7	CTNNB1	PMS2	RHBDF2	DAXX	F11	IL23R	CD109	SEC24C	RREB1	SLCO2A1	CDKN2C	PIK3CA	RBPJ	AGGF1	FAS	ASXL1	PTPN22	MYD88	PKHD1	GREM1
HP_HEPATOMEGALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATOMEGALY	IFNGR1	CTSA	REL	DDRGK1	FCGR2A	RRAS	DPM2	CDKN1C	GPC3	PRKCSH	AGA	FAH	SKIV2L	RIT1	TCIRG1	YARS2	SUMF1	PEX3	TGFB1	TTC26	C1QBP	PSAP	MYORG	ATRX	CLCN7	CD3D	PYGL	CTC1	PHKB	DLD	MARS1	PCCB	GBA	DEF6	RIPK1	PRF1	ACADVL	TOGARAM1	NDUFAF3	PEX5	CNTNAP2	HBA1	SC5D	IFIH1	PSTPIP1	SLC20A2	RNU7-1	HSD3B7	HBA2	MVK	ABCD3	NLRP3	NDUFS8	CALR	SDHD	HBB	PEX6	TKFC	JAK1	SGSH	SLC25A19	LYST	ALMS1	NDUFAF1	SERPINA1	PHKA2	GALM	TRAPPC11	RTEL1	NDUFB10	IL1RN	CD96	RMND1	MIF	LRP5	TTC37	PEX12	FUCA1	RNASEH2C	HYOU1	XK	GCLC	TIMMDC1	SLCO2A1	NPC2	PTRH2	NPHP3	AKR1D1	NCF4	APOE	PEX16	DCDC2	SP110	DHDDS	PKHD1	MT-ND1	LACC1	IDS	MYPN	COX14	PEX11B	GALNS	ADAR	NDUFAF4	VPS4A	GBE1	MAN2B1	KCNH1	RABL3	KRAS	LIG4	NGLY1	GALE	CD19	CTLA4	SLC4A1	PEX26	SLC25A13	NDUFS7	PIGM	IL2RB	SRP54	GLIS3	MT-TK	OTUD5	BTNL2	B4GALT1	ATP8B1	ERCC6	MICU1	USP18	ITCH	WDR19	TERC	ABCB11	LMNA	SPTB	SLC6A14	ATP6AP1	SH2D1A	RNU4ATAC	STX11	IDUA	NLRP1	FASLG	VPS13A	SNX10	PEX14	TET2	GFM1	HLA-DRB1	GNE	FAS	SAA1	RHAG	IFNG	RHD	LIPA	ARL13B	BRCA2	MMAB	DNAJC21	ERCC8	UNC13D	CPT2	TFE3	EIF2AK3	ADA	MT-ND6	TNFRSF13B	SLC29A3	APOA1	IARS1	HYMAI	PEX13	IL2RG	ZNFX1	B2M	ATP6AP2	ANK1	YARS1	SMPD1	SEC63	COG4	SLC30A10	IFT172	GSTM3	ETFA	RNASEH2A	AGGF1	ADA2	ATP6V1B2	CAV1	AKT2	IL18BP	PTPN11	TNFRSF11A	EFL1	NDUFB3	RINT1	LBR	MYBPC3	ICOS	ABCC2	MYL2	KCNJ11	PEX1	XRCC4	ETFDH	PRKCD	G6PC1	ASAH1	APOC2	RAF1	KIF20A	FOXRED1	SLC40A1	POLG	OSTM1	GLB1	CC2D2A	TALDO1	PTPRC	UCP2	INPP5E	ALDOB	PCK1	PSMG2	SLC25A20	STEAP3	FGFR2	BRCA1	ANTXR1	NCF2	MPL	CD247	CBS	NDUFAF2	HMGCL	PALB2	CD27	TMEM70	ARG1	DIS3L2	SLC37A4	NPM1	SMAD4	AGPAT2	HNF1A	COG1	STAT3	EDNRA	PIGS	SOS1	TP53	PSMB4	CD70	HADHA	KLF1	HGSNAT	TMEM126B	TRMU	NRAS	SOS2	ERCC4	MT-TE	NHP2	TRIM37	SLC22A5	RTL1	RUNX1	PCCA	NCF1	ITK	CLDN1	EPB42	NDUFS3	G6PC3	RAG2	BAP1	ZAP70	DCLRE1C	NDUFB11	MPI	INSR	COA8	HMOX1	PC	RASGRP1	RBCK1	NDUFS4	OCLN	ASXL1	PSMB9	DGUOK	CHD7	IL2RA	ALG13	MPC1	MEG3	RFT1	NEU1	RAC2	KPTN	RRAS2	JAK2	RMRP	MT-TV	MT-ATP6	SNX14	PPARG	FOS	CBL	ATP7B	NOP10	SCYL1	MMUT	GPR35	RHCE	PEX10	PEX2	MT-ND4	NDUFA11	TNFRSF1A	SOX10	SLC35C1	GAA	KCNQ1	STXBP2	GPC4	SOCS1	SLC25A15	NDUFV2	NDUFA6	HBG1	IL7R	TINF2	GNMT	EARS2	CCDC115	GPIHBP1	MT-ND5	CA2	WT1	SLC7A7	EXTL3	COX4I2	RBM8A	RAB27A	TMEM67	KIF12	NUBPL	COG7	ADAMTSL2	CYP7B1	DKC1	MPV17	LPIN2	TNNT2	DPM1	FBN1	MT-ND3	NDUFV1	KCNQ1OT1	SUCLG1	TCF4	MED12	PSMB10	ABCA1	ACAT1	DZIP1L	COX5A	RAG1	ALG1	PTPN22	GALK1	NDUFS6	CD28	XIAP	CASP10	LPL	GALT	JAM3	MADD	NDUFS1	PHKG2	FDX2	TSFM	CAVIN1	EWSR1	NAGLU	SBDS	WDR35	TRPV6	MRAS	TNFRSF1B	GCDH	HPGD	NDUFS2	KCNN3	PMM2	IL6	SLC17A5	POLD1	IFT140	CTNNB1	BTD	STAT1	SLC2A1	AGL	NAGA	CPOX	SPTA1	ABCB4	CIDEC	HBG2	MT-TW	ALG9	GATA2	MYD88	AUH	SCARB2	PDGFRB	HEXB	MRPL3	ACADM	DHFR	CEACAM6	MEFV	USB1	FBP1	DNASE1L3	KCNN4	CD55	HAVCR2	CYBB	PNPLA2	PTPN2	HJV	FERMT3	GLRX5	SPRED2	LYZ	JAK3	HFE	MFN2	NCKAP1L	CPT1A	FARSA	ETFB	CDIN1	PLAGL1	ABHD5	AP3B1	LTBP3	CFTR	MRPS28	HMGCS2	SLC39A4	CYBC1	BMP2	RPGRIP1L	LIPE	MMAA	SRSF2	COG6	COG5	ANKRD55	MAGT1	PEPD	MTTP	ARSB	PEX19	BSCL2	ACOX1	DLK1	TUFM	AMACR	PDGFRA	HAMP	TERT	DAXX	NEK8	F5	POLG2	MCM4	C2orf69	FGA	GNPTAB	FLNC	MOGS	NDUFA1	PLEKHM1	GPD1	NDUFB9	ASL	NDUFAF5	IRF4	TKT	INPPL1	MT-CYB	BOLA3	XYLT1	CTSK	IGF2	PDGFB	ABCC8	VPS33A	PSMB8	HSD17B4	TNFRSF13C	CD40LG	SLC26A9	NDUFAF8	NOTCH2	NHLRC2	DCTN4	CASR	DPAGT1	ZNF699	MT-ND2	PTEN	ERCC1	AP3D1	CD81	TNNI3	RNASEH2B	CD3E	PGM1	SLC25A1	XPR1	SURF1	GUSB	ATAD3A	CR2	SLC9A3	KIF3B	PALLD	TNFSF11	SLC34A2	TMEM165	GNB2	RHBDF2	ASS1	LARS1	PARN	ERBB3	FAM111B	GIMAP5	SAMHD1	CYBA	RASA2	MT-TL1	GNS	LCAT	CLCA4	MET	CCDC47	DYNC2LI1	VPS45	SEMA4D	GUCY2D	HNF4A	SCO1	NAGS	PIK3C2A	CDKN2A	ALG8	STX1A	BAAT	UQCRB	PIEZO1	MT-TN	LZTR1	IFT122	CEACAM3	MTX2	NPC1	SLC2A2	MST1	ALG2	SF3B1	CTNS	PIGA	TREX1	WRAP53	SLC11A1	STAT4	PPP1R21	JAM2	ATPAF2	MRPS7	KIT
HP_ABNORMAL_INTESTINE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_INTESTINE_MORPHOLOGY	RERE	IL12A-AS1	ELN	IL12A	KAT6A	WAS	ZEB2	TBCE	CCDC40	FCGR2A	RTTN	KIT	CDKN2B	CCDC28B	CLCN4	RIPK1	GATA6	POLA1	SALL4	RTEL1	GPC3	JAK3	AGA	FREM1	FAH	MNX1	SKIV2L	MYH11	FANCC	BCOR	PEX3	CEP41	TMEM67	EIF4H	TCF3	PIGW	RET	GREB1L	UNC45A	FANCF	ERCC4	AKT1	FANCD2	LRP2	RBM10	ODC1	FBLN5	ERAP1	DYNC2H1	NODAL	FGFR1	RAD51C	RSPH1	SI	CTC1	MYCN	ACOX2	PACS1	PTEN	DMP1	MT-CO1	CCN2	OFD1	MT-ND1	DEF6	EDN3	SHPK	LTBP1	STAT4	FRAS1	ERCC2	ATP7A	SNAI2	PSTPIP1	DDX59	F12	SMC3	GDNF	SEMA3E	MBTPS2	SDHD	HSD3B7	POLE	MVK	SLC5A1	LRRC8A	IL12RB1	IGHM	MSH2	APC	MASP2	CALR	SLC46A1	POLG	SDHC	POLR1D	RMRP	MAD2L2	FANCA	MT-TF	PMS2	PTCH1	PEX6	RPL27	FANCB	JAK1	AXIN2	RSPH9	KDM6A	MLH1	TJP2	RPL35A	RPS26	NIPBL	TTC37	PEX12	PLG	WNT2B	ODAD3	EPCAM	IL10RB	ZNF711	RPS15A	ITGB4	MEFV	MTTP	HYOU1	BDNF	RAC2	MT-TL1	DNAJB13	GATA1	GCLC	METTL27	SLCO2A1	MDM2	DHCR7	MUTYH	CREBBP	PTRH2	PPP1R12A	PIGN	CEP57	NPHP3	RPS6KA3	MSH3	AKR1D1	USP9X	DYRK1A	NCF4	DISP1	MYO1H	PEX16	USF3	POU2AF1	ZPR1	PKHD1	AIRE	RPL15	ENPP1	LONP1	MYC	RAD21	CHRM3	IRGM	DNAH5	IL37	LEMD3	POLD1	IL21	BAX	DNAAF11	TBX1	FERMT1	DHODH	SPAG1	ODAD1	RABL3	DNMT3B	BRAF	LIG4	FARSB	FGF20	INPP5E	CTLA4	TREH	NLRC4	COL14A1	ADAMTS3	TNFRSF1A	UBE3B	PEX26	FKBP6	TP53	CEP104	BRD4	IL2RB	IRF5	MINPP1	SRP54	GUCY2C	HELLS	OTUD5	PIK3CA	CCDC65	ATP8B1	RRM2B	MYLK	ITCH	KLLN	BUD23	TERC	MKKS	ABCB11	SPINK1	HMBS	FANCE	ALG6	DNAJC30	SLC6A14	STX11	FLI1	PEX14	TTR	FAS	SAA1	TTC7A	VPS37D	ERBB3	EP300	SATB2	RARB	C4A	CCNQ	BRCA2	RPS19	TCF4	CLMP	MKS1	DNAJC21	CSPP1	MT-TE	SALL1	ARX	SLC29A3	CXCR4	TMEM138	ANTXR2	NOD2	TRIP13	KDM3B	SETD5	LMOD1	COG8	SHH	HLA-B	USP27X	C1R	XRCC2	NDUFB11	HNRNPK	PAX3	ABCD1	F13A1	GLA	GSTM3	ZNF81	MECP2	CDK8	BRCA1	PORCN	HLA-DRB1	PRF1	MYOD1	TCTN2	SOX10	EFL1	GAS1	ZMYND10	MT-ND6	LBR	DRC1	HDAC8	ALDH18A1	TLR2	MTOR	XRCC4	PRKCD	STAT5B	PET117	ZBTB24	CTBP1	BMPR1A	SMARCAL1	ISL1	UBR1	TFAP2A	F13B	LIG3	PLCG2	MT-TW	ALG12	DICER1	STX3	RPS28	PRKCZ	EXT1	VPS51	PHOX2B	CENPF	RAPSN	CPLANE1	ZMPSTE24	RPL35	ARPC1B	NCF2	DGAT1	PIGL	NOTCH3	RPL5	ACTG2	OPLAH	UFD1	CC2D2A	EDNRB	CCBE1	UBAC2	ITGA6	AURKA	DACT1	PALB2	HLA-DQA1	PDGFRB	SLC37A4	HIRA	LMNA	MCIDAS	MYRF	KCNAB2	NPM1	ARL6	SMAD4	PDGFRA	DMD	HPS1	WASHC5	LIPA	STAT3	FANCG	EDNRA	OCRL	SEMA4A	DSE	ACSL4	PCSK1	ITGA8	MT-CO3	SMO	SETBP1	B9D1	PDPN	MAP3K7	CCR1	NSUN2	TSPAN7	SRC	MED12	SEC24C	CDCA7	TET2	CTRC	NHP2	LTBP4	CD79B	PTPN22	DNAAF6	RFWD3	NRAS	APC2	GNAS	RUNX1	PEX1	TGFB1	ALG3	CPOX	HSPG2	IL1RAPL1	CPLX1	MT-TK	NCF1	RNF43	PEX11B	KEAP1	RFXAP	CD3G	SPEN	AP1S1	MPI	TWNK	ZNF423	INSR	CFTR	FOXF1	CCDC39	CCNO	HMOX1	HABP2	MT-TS2	TDGF1	ASCL1	KATNIP	PEX5	PGAP3	FOXJ1	KITLG	SLX4	KIFBP	BCL10	DNAAF5	GDF2	RPGR	CDKN1B	IL2RA	BAZ1B	PLA2G2A	NOTCH2	TCTN3	WIPF1	SERPING1	JAK2	MT-ND5	DNAI2	MSH6	PDGFRL	SYK	ZFPM2	CCDC22	ERBB2	RPGRIP1L	CBL	FLCN	HYLS1	TYR	NOP10	PLVAP	UBE2T	GPR35	SUFU	PEX2	CHST14	FCHO1	STRA6	NTHL1	RAD54B	SIN3A	ARL3	ASXL3	MLH3	UPF3B	TNFSF15	STXBP2	TMEM231	SOCS1	HLA-DQB1	RPL31	SREBF1	NEK10	MUSK	SF3B4	AP1B1	PTCHD1	SDHB	SON	TINF2	RPS29	GPIHBP1	WNT4	NEK1	TSR2	ENG	WT1	KRAS	SEMA3C	RREB1	CDKN2C	SLC7A7	CLIP2	FGFR3	COX4I2	ADAM17	GTF2IRD1	SERPINA1	RBM8A	HCFC1	HYDIN	CIITA	TNPO3	FASLG	CYP7B1	DKC1	COMT	TMEM237	CEP120	SRCAP	RAD51	LPIN2	GTF2I	AK2	DNAAF2	PNLIP	TMPRSS6	CDKN1A	POLR1C	RPL18	DZIP1L	ELANE	WFS1	AMER1	ALG1	AHI1	HCCS	IGKC	GPC4	MITF	ODAD4	BUB1	LRRC56	MT-TH	VANGL1	FBN2	MTRFR	MCC	EXT2	CASP10	CHD7	STAT1	TMEM216	FANCL	COL5A2	ITGB2	PTCH2	CCND1	DNAH1	BUB1B	SH3KBP1	SLC12A2	EWSR1	RECQL4	SBDS	RPS20	HNRNPU	ARHGEF6	ACADVL	BCL7B	NRTN	B2M	MIF	CFAP300	HPGD	IQSEC2	HLA-DPA1	PKD1	WAC	ACVRL1	ABL1	RPS10	SIX3	TEK	CDON	NPHP1	MT-CO2	FLNA	FGFR2	PIGV	PRDM16	CAV1	PTF1A	PRKAR1A	TRMT5	ARID1B	ABCB4	KIAA0586	IGLL1	DIS3L2	NSD2	STAG2	FANCI	LRBA	SMC1A	MYD88	GREM1	COL5A1	EFEMP2	CEACAM6	CISD2	ASXL1	USB1	TLR4	XIAP	TGFBR2	RFC2	CCR6	LCT	CD55	L1CAM	PIEZO1	CYBB	DLG3	COL1A1	ZIC2	DNAAF4	BICRA	SLC2A2	DOK7	SLC39A4	SPIB	TGIF1	PGAP2	CHEK2	IGHG2	BLM	FRMPD4	FOXH1	AAGAB	RAB39B	FOXP3	TCOF1	KIF7	CLTRN	SPINK5	CYBC1	MADD	RPS24	IFNGR1	AGTR2	RELA	ECE1	ATRX	ZAP70	GAS2L2	ADA2	FOXE1	PRTN3	WNT9B	NUP88	COG6	PLA2G4A	DHCR24	ODAD2	FAN1	ARL13B	HLA-DPB1	MMP21	SDHA	GLI2	ABCB1	COX7B	BTK	B3GLCT	PIGO	UNC13D	KCNN4	SATB1	SLC51B	AMACR	TERT	IL23R	WBP11	F5	MT-ND4	IVNS1ABP	GP1BB	PAK3	CBLIF	CFAP221	SLC6A19	PPOX	FLNB	SAR1B	MLXIPL	STK11	TNFAIP3	IL6	IRF4	RFXANK	CD79A	ZNF41	TTC12	GDI1	LIMK1	FTSJ1	BLNK	TYMP	MMEL1	RPS17	RPS7	HMGA2	CFAP298	PGM3	KMT2D	PIBF1	SRSF2	GAS8	DNAAF3	SLC26A9	UBE4B	TCTN1	BACH2	PIK3CD	ARVCF	SLC9A7	DCTN4	SH2B1	CNKSR2	ACTA2	FCN3	RPS27	BBS1	PERCC1	DDB1	NSD1	SPEF2	ZNF699	RFX6	NEUROG3	CTNNB1	DNAI1	RSPH3	DOCK8	CEP290	SETD2	SLC6A8	PEX19	TP63	EYA1	IL10RA	MMP23B	IFT43	CDC45	SYP	DNAAF1	SLC9A3	PALLD	DLC1	NAA10	MYO5B	RHBDF2	BUB3	TBL2	PARN	CARMIL2	SEMA3D	CYBA	FANCM	MCM6	SEC23B	PIK3R1	FGFRL1	FGF8	FAT4	CLCA4	PRSS1	STK36	CCDC47	TMEM270	CAVIN1	BRIP1	DNAL1	RASGRP1	HFE	IL10	SEMA4D	PEX10	RFX5	PEX13	CBY1	PTPRJ	PIK3C2A	MIR17HG	PMS1	MID2	STX1A	RSPH4A	CDKN2A	ALG8	DNAH9	COL3A1	RPL11	DCC	CASZ1	POLR1B	TOM1	ALG13	SLC18A3	RPL26	STEEP1	INAVA	JMJD1C	CEACAM3	GTF2IRD2	SIX1	ARMC9	PTPN12	MEN1	SLC10A2	SMAD7	LETM1	CARD8	CCDC103	LUZP1	SPINT2	MST1	CFC1	PKP1	IPO8	CFAP45	KLRC4	GABRD	SKI	WRAP53	SLC11A1	PIGY	DLL1	ALG9	IDS	DNAH11	PRSS2	NME8	MT-TQ
HP_PROTEIN_LOSING_ENTEROPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROTEIN_LOSING_ENTEROPATHY	MPI	CARD8	PET117	DGAT1	BMPR1A	ADAMTS3	COG8	CCBE1	ALG8	PLVAP	PTEN	ALG6	DZIP1L	ALG1	PKHD1	PIK3C2A
HP_ABNORMALITY_OF_THE_SMALL_INTESTINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_SMALL_INTESTINE	AKR1D1	RERE	CIITA	TNPO3	SAR1B	ELN	EFL1	GAS1	CYP7B1	TNFAIP3	LBR	MYO1H	ALDH18A1	EPCAM	MLXIPL	FCGR2A	RTTN	CDKN2B	CLCN4	SKIV2L	SRCAP	RAD51	GPC3	RFXANK	STAT5B	PET117	PEX12	FANCC	ZNF41	PNLIP	CTBP1	GDI1	FTSJ1	TCF4	MED12	MMEL1	CDKN1A	UNC45A	DZIP1L	LIG3	ALG1	FANCF	ERCC4	IGKC	GPC4	FANCD2	RBM10	STX3	ODC1	FBLN5	CENPF	FBN2	NODAL	FGFR1	PTEN	MYCN	IL12A	ACOX2	DGAT1	CHD7	STAT1	SLC9A7	MPI	DEF6	SHPK	FANCL	CCBE1	LTBP1	CNKSR2	FRAS1	PERCC1	ZNF699	SEMA3E	RFX6	HSD3B7	HLA-DQA1	IL12RB1	SBDS	TTC7A	PALB2	EP300	BUB1B	MAD2L2	DMD	ARHGEF6	FANCA	PTCH1	LIPA	STAT3	FANCG	IQSEC2	FANCB	DSE	ACSL4	PCSK1	TJP2	FOXF1	WAC	SIX3	CDC45	SRP54	SYP	MYH11	CDON	TTC37	PLG	WNT2B	ZNF711	SUFU	TSPAN7	MTTP	PTF1A	MYO5B	ARID1B	GATA1	DNAJC21	TYMP	BUB3	DIS3L2	CTRC	NSD2	PTRH2	PPP1R12A	PIGN	STAG2	CEP57	USP9X	DYRK1A	DISP1	FANCI	LRBA	POU2AF1	PKHD1	TGFB1	RFWD3	FANCM	MCM6	EFEMP2	ALG3	CPOX	IL1RAPL1	CPLX1	FGFRL1	FGF8	PRSS1	RFXAP	FOXP3	CCDC47	BRIP1	CFTR	SEMA4D	LCT	RFX5	TDGF1	DLG3	NLRC4	PIK3C2A	SLX4	MIR17HG	ZIC2	BICRA	MID2	IRF5	SPIB	ALG8	TGIF1	CDKN1B	IL2RA	RAD21	ATP8B1	CHST14	RRM2B	IGHG2	FRMPD4	ARX	FOXH1	TOM1	ALG13	ABCB11	SPINK1	RAB39B	RAD51C	FANCE	STEEP1	ALG6	CLMP	SYK	SPINK5	BMPR1A	FLI1	POLG	AGTR2	PLVAP	RELA	UBE2T	MEN1	GPR35	SLC10A2	SATB2	RARB	LETM1	CARD8	SALL1	STRA6	MST1	PLA2G4A	BUB1	UPF3B	RPS6KA3	TNFSF15	IPO8	CFAP45	SOCS1	HLA-DQB1	CXCR4	GLI2	ANTXR2	ACTG2	TRIP13	KDM3B	FLNA	PTCHD1	SLC51B	COG8	SHH	AMACR	USP27X	DLL1	WNT4	BRCA2	XRCC2	WBP11	ALG9	CDKN2C	SLC7A7	ZNF81	PRSS2	IVNS1ABP	ADAMTS3	PAK3	COX4I2	ADAM17	MECP2	RBM8A	BRCA1	PORCN	HCFC1
HP_ABNORMAL_DUODENUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DUODENUM_MORPHOLOGY	RERE	RFWD3	FANCM	RFX6	GAS1	FLI1	FGF8	RTTN	CDKN2B	TTC7A	RAD51	PALB2	PLG	EP300	UBE2T	MEN1	BUB1B	MAD2L2	RARB	FANCF	FANCA	CARD8	FANCC	SALL1	BRIP1	PTCH1	CHST14	STRA6	PLA2G4A	FANCG	FOXF1	FANCB	NODAL	BUB1	TDGF1	CDKN1A	SIX3	IPO8	CFAP45	CDC45	ERCC4	GLI2	CDON	SLX4	FANCD2	ACTG2	TRIP13	ZIC2	RBM10	KDM3B	CENPF	FBN2	SUFU	SHH	TGIF1	CDKN1B	RAD21	MYCN	ARID1B	FGFR1	DLL1	BRCA2	XRCC2	WBP11	GATA1	CHD7	BUB3	CDKN2C	CEP57	FOXH1	PIGN	ADAM17	STAG2	FANCL	RAD51C	DYRK1A	DISP1	BRCA1	FANCE	PORCN	FANCI	MYH11	SYK	SEMA3E
HP_DUODENAL_ATRESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUODENAL_ATRESIA	RERE	RFWD3	GLI2	CDON	TRIP13	RFX6	ZIC2	GAS1	FLI1	KDM3B	CENPF	FGF8	FBN2	RTTN	SUFU	NODAL	SHH	TGIF1	MYCN	FGFR1	DLL1	BUB1B	FANCF	WBP11	SALL1	CHD7	BUB3	PTCH1	CEP57	FOXF1	FOXH1	FANCB	PIGN	STAG2	BUB1	DYRK1A	TDGF1	DISP1	PORCN	SIX3	CFAP45	SEMA3E
HP_HEMATEMESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMATEMESIS	GP9	ENG	CDKN2C	WAS	WIPF1	GP1BB	ATRX	CDKN2B	CDKN1B	MED12	CDKN1A	MEN1	GP1BA	DAXX	ACVRL1
HP_MELENA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MELENA	BMPR1A	ENG	APC	CDKN2C	GP1BB	WAS	GP1BA	ATRX	ITGB3	ITGA2	CDKN2B	KIF23	PTEN	CDKN1B	CDKN1A	MEN1	SREBF1	ITGA2B	DAXX	ACVRL1	CD109
HP_ABNORMAL_LARGE_INTESTINE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LARGE_INTESTINE_MORPHOLOGY	CIITA	FASLG	APC	MLXIPL	STK11	TNFAIP3	WAS	EPCAM	FCGR2A	TLR2	GATA1	SKIV2L	IL6	RIPK1	GATA6	POLA1	SALL4	AKT1	RTEL1	POLE	RFXANK	PRKCD	FREM1	MNX1	MYH11	GTF2I	NCF1	BMPR1A	LIMK1	MSH6	EIF4H	MLH1	TCF4	RET	TFAP2A	POLR1C	RPL18	ELANE	RPS17	RPS7	F13B	HCCS	LMOD1	PLCG2	DICER1	RPS28	MLH3	BUB1	VANGL1	ZMPSTE24	PTEN	MCC	RPL35	ARPC1B	RAD51C	BACH2	BRCA1	CASP10	PIK3CD	RPL5	OPLAH	FLCN	DEF6	CCBE1	COL5A2	ITGB2	FCN3	RPS27	DDB1	CCND1	PSTPIP1	AURKA	DACT1	PALB2	BUB1B	SH3KBP1	SDHD	SLC37A4	CTNNB1	DOCK8	RECQL4	MSH2	LMNA	MASP2	RPS20	SMAD4	SDHC	POLR1D	AXIN2	ACADVL	BCL7B	HPS1	PDGFRA	PMS2	TGFBR2	RPL27	JAK1	SEMA4A	PKD1	RPL35A	IL10RA	RPS10	TP53	RPS26	NIPBL	TTC37	PALLD	DLC1	MAP3K7	MUTYH	IL10RB	STAT1	PIGV	NSUN2	RPS15A	NAA10	ENG	MEFV	PRKAR1A	RHBDF2	UBR1	SRC	ACTG2	RAC2	PIGN	METTL27	MDM2	BUB3	TBL2	PIK3CA	BCOR	CEP57	RPS6KA3	MSH3	LTBP4	LRBA	USF3	CARMIL2	NCF4	GREM1	CYBA	TGFB1	NRAS	SEC23B	RPL15	LONP1	IRGM	RNF43	IL37	POLD1	KEAP1	RFXAP	ELN	IL21	BAX	STXBP2	INSR	TMEM270	FERMT1	XIAP	RFC2	RABL3	ERBB3	RASGRP1	BRAF	SEMA4D	RFX5	HABP2	CTLA4	LIG4	CYBB	NLRC4	COL14A1	PTPRJ	KRAS	COL1A1	PMS1	FKBP6	BCL10	STX1A	HLA-B	SLC9A3	CDKN2A	MINPP1	JAK3	CHEK2	GUCY2C	BAZ1B	OTUD5	RPS19	PLA2G2A	RPL11	DCC	NCF2	BLM	TCTN3	POLR1B	MYLK	WIPF1	KLLN	BUD23	AAGAB	MKKS	RPL26	DNAJC30	EP300	INAVA	FOXP3	TCOF1	PDGFRL	CFTR	KIF7	SYK	STX11	GTF2IRD2	CYBC1	FAS	RPS24	TTC7A	PTPN12	VPS37D	GPR35	ZAP70	SMAD7	ADA2	CARD8	FOXE1	SALL1	CCNQ	BRCA2	COG6	FCHO1	NTHL1	SPINT2	MST1	RAD54B	SOX10	KIT	FAN1	COL5A1	RPL31	SDHA	ABCB1	NOD2	TRIP13	COX7B	UNC13D	MED12	SDHB	RPS29	GPIHBP1	TSR2	NDUFB11	CLIP2	F13A1	IVNS1ABP	FGFR3	GTF2IRD1	CDK8	HLA-DRB1	PRF1	FLNB
HP_INTERMITTENT_DIARRHEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERMITTENT_DIARRHEA	PALB2	COG4	ACSF3	POLG	KRAS	BRCA2	GATA6	PALLD	ZNFX1	RABL3	ATRX	CDKN2A	TYMP	SMAD4	TP53	BRCA1	DAXX	G6PC1
HP_SMALL_BOWEL_DIVERTICULA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_BOWEL_DIVERTICULA	ELN	LTBP1	EFEMP2	FBLN5	ALDH18A1
HP_CHRONIC_RHINITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_RHINITIS	HYDIN	RSPH4A	RAG1	ZMYND10	SNX10	DRC1	DNAI1	CCDC40	RSPH3	MCIDAS	ODAD4	DNAH5	RSPH9	STK36	TCIRG1	GAS2L2	CCDC103	ODAD2	DNAAF11	CFAP300	CLCN7	DNAAF2	SPAG1	ODAD1	DNAL1	GAS8	TTC12	CCDC39	CCNO	SLC29A3	CFAP298	DNAAF1	FOXJ1	NEK10	DNAAF4	ALG12	TNFSF11	DNAI2	ODAD3	DNAAF5	LRRC56	RPGR	RSPH1	DNAAF3	DNAH9	RAG2	CCDC65	DNAJB13	OFD1	DNAH11	NME8	CFAP221	SPEF2	DNAH1	DNAAF6
HP_EXAGGERATED_CUPID_S_BOW	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXAGGERATED_CUPID_S_BOW	SLC35A2	GPC4	SUPT16H	B3GLCT	MED25	MEG3	RALA	RTL1	TBCK	ATP1A2	HNRNPU	NXN	HNRNPK	DLK1	CLCN3	ROR2	ATP1A3	SMARCA2	MED27	CACNA1A	SLC1A3	ZNF462	PIGT	EXOC2	ZMIZ1
HP_LARGE_FLESHY_EARS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_FLESHY_EARS	ALG9	TNPO2	KCNH1	PIGN	COLEC10	TRAPPC9	MASP1	ATP6V1B2	COLEC11	TBL1XR1	NARS1	KCNN3	TAPT1
HP_FOCAL_CLONIC_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_CLONIC_SEIZURE	RELN	SCN2A	SCN1A	SLC12A5	GABRG2	SCN9A	FRRS1L	SCN8A	KCNQ2	KANSL1	KCNQ3	MICAL1	SCN1B	TBC1D24	PRRT2	SMARCAL1	PCDH19	GABRA1	SRPX2	GRIN2A	DMXL2	LGI1
HP_EXAGGERATED_STARTLE_RESPONSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXAGGERATED_STARTLE_RESPONSE	ZMYM2	PLAA	GM2A	HEXB	GPHN	MTHFS	SLC6A5	GLRB	SOD1	PURA	FLRT1	TRAK1	FKTN	KLC2	DDC	GLB1	HEXA	SLC6A9	ARHGEF9	GLRA1	ASNS
HP_PAROXYSMAL_DYSTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAROXYSMAL_DYSTONIA	TSEN15	KCNT1	CRH	CHRNB2	FARS2	CHRNA2	TBC1D24	DEPDC5	TSEN2	PNKD	SEPSECS	PRRT2	SLC2A1	DLAT	TSEN54	TSEN34	CABP4	CHRNA4
HP_ABNORMALITY_OF_NEURONAL_MIGRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_NEURONAL_MIGRATION	FKTN	DCPS	TMEM237	CACNA1I	CEP120	B3GALNT2	NCDN	RTTN	MACF1	CDK5RAP2	CCDC88A	CDH15	FGFR3	SNRPN	SCN2A	CEP290	ACTB	PEX3	LMNB1	CEP41	MAPK8IP3	DAG1	DOCK6	TMEM67	PCYT1A	CDH2	TUBB2A	MLH1	FAM149B1	SIX3	PNKP	AHI1	EXOSC5	CTU2	KATNB1	CEP63	LAMB1	MYORG	FH	PTCH1	ARHGAP31	WDR4	TPRKB	RDH12	KANSL1	ERBB4	SMARCA4	MYT1L	NSDHL	CACNG2	STIL	PEX14	BICD2	ARMC9	TMEM216	PAFAH1B1	LAMA2	FRAS1	C12orf4	CNTNAP2	CTNNA2	GNAO1	SLC20A2	PLK4	CC2D1A	ZSWIM6	PHGDH	TUBGCP4	CLP1	SLC25A24	RAC1	NEDD4L	AKT3	GMNN	CAMK2B	RECQL4	SMARCB1	EIF2AK2	TUBG1	FMN2	CRPPA	GRIN1	TCTN1	ZMYND11	ATP6V1A	ZEB2	WDR73	TRPM3	DLL1	PEX6	ASH1L	KIAA0586	IBA57	ARID1A	NODAL	FKRP	COL4A1	PEX1	COPB2	DHX37	TMEM107	HNMT	WDR26	CHAMP1	RMND1	POMGNT2	TOPORS	PEX12	SOX11	DEAF1	MAGEL2	NDE1	KCNA1	NPHP1	ERMARD	WDR62	ARID1B	ZIC2	KIF14	RAB18	TSEN54	TUSC3	MTOR	WT1	LMAN2L	SUFU	RNU4ATAC	LMNB2	DHCR7	CPT2	PPP1R12A	TGIF1	NSUN2	LCA5	FAT4	DYRK1A	STS	PEX11B	AKT1	MAP1B	FTO	TCTN2	PEX16	FIG4	OCA2	ATP6V1B2	EPG5	PDGFRB	SPATA7	SPEN	DYNC1I2	VPS33B	GFM2	PEX10	PLAA	PIK3R2	POMGNT1	TP73	TMX2	USP45	CLIP1	PIK3CA	PRICKLE2	TRRAP	VPS4A	ASXL1	RAB3GAP1	USP9X	CENPJ	C2CD3	PMS2	POMT2	CIT	PEX13	WASHC4	NPRL2	PGAP1	ARFGEF2	CAMK2A	NDN	TMTC3	OFD1	POMT1	TDGF1	INPP5E	TUBGCP6	MCPH1	ADAMTS3	PPP3CA	PEX26	CRX	KIAA0753	PIGB	CEP104	ISCA1	SMPD4	CASK	ATR	CDC40	SET	SMARCD1	NAA20	CSGALNACT1	GLI2	TULP1	ETFB	SON	TECR	FBXO31	POMK	ADD3	MICU1	USP18	SIK1	TBC1D20	DYNC1H1	PI4KA	PLP1	GRM7	TRAIP	KDM5B	DMXL2	FLI1	SETD1B	PRSS12	RPGRIP1L	DISP1	LAMC3	TUBA1A	PYCR2	CCND2	LAGE3	SPOP	SCN1B	ASCC1	KCNJ13	TUBGCP2	KIF11	KAT6B	TUBB2B	SASS6	FDFT1	SMO	COG6	METTL23	ST3GAL3	ARX	OSGEP	CRADD	CLTC	MKS1	DHCR24	COL18A1	MED27	PDHA1	RAB11A	CSPP1	RPGRIP1	ARL13B	EDC3	B4GAT1	MED23	PAX6	TMEM138	MECP2	SHH	CSNK2B	NARS1	ANKRD11	TMEM222	ADGRG1	KIF2A	PSAT1	PTEN	PPIL1	DLK1	DEPDC5	TUFM	GPX4	ERCC1	YWHAE	ATP6V0A2	DISC1	HNRNPK	PRKDC	ETFA	ANKLE2	SRPX2	CDK6	RPS6KA3	ATP1A2	GNB1	TUBA8	KAT5	YRDC	RPE65	DONSON	VPS35L	ARID2	NEUROD2	TBR1	CEP85L	ETFDH	XRCC4	MED25	ASPM	VLDLR	IFT140	PIGC	CDON	ZC3H14	TBC1D24	TSEN2	KIF1A	LARGE1	PDGFB	ACTG1	CC2D2A	INTS8	RXYLT1	VAC14	ZMIZ1	FMR1	HSD17B4	TRAPPC9	CEP135	GAS1	SARS1	IER3IP1	MAN1B1	ALG12	CENPE	PIBF1	DCHS1	CPLANE1	CDK5	CDKL5	CEP152	AHDC1	CSF1R	KNL1	LAMA1	PEX5	IMPDH1	DCX	CUL4B	CCBE1	EXOC7	EML1	MPDZ	NUP107	EOMES	IQSEC1	AIPL1	KIF5C	RALGAPA1	GUCY2D	SOX4	TBL1XR1	COL3A1	MED12L	METTL5	SMARCC2	TSEN34	MBD5	SLC5A6	PIGQ	VIPAS39	CIC	FRRS1L	HYLS1	TSEN15	XPR1	WASHC5	NBEA	PEX19	SEPSECS	CUX1	KIRREL3	TUBB3	NBN	GMPPB	MBOAT7	TCF4	B9D1	TP53RK	LRAT	SMARCE1	CRBN	TRAPPC14	TTC5	EPB41L1	ATXN2	PEX2	LINS1	NPRL3	LONP1	FGF8	SUZ12	UBE4A	ARF1	EZR	ASNS	QARS1	RTL1	RSRC1	TUBB	TRIM8	TNIK	THOC2	GDF6	NFIX	GPHN	ZNF423	SNAP29	APC2	RAB3GAP2	HIVEP2	DPF2	RD3	OCLN	KATNIP	CBY1	CRB2	NUP133	UFSP2	KIFBP	SRD5A3	NDST1	SCN3A	KIAA1109	GRIN2B	KIF7	EEF1A2	MEG3	SLC12A2	MFSD2A	HIC1	ZNF335	TAF13	ZNHIT3	SLC45A1	TCTN3	KAT8	CCDC22	SLC25A19	PDE6D	NMNAT1	GRIK2	KCNQ5	PDHB	ATP6V1E1	CRB1	MED12	FLNA	ALKBH8	ARL3	AIMP1	ZNF292	DOCK8	ATN1	RELN	BMPER	TMEM231	CPLX1	POLR3A	COL4A2	ALG11	FUZ	PHC1	CSNK2A1	GPSM2	FOXG1	SHMT2	FOXH1	IQCB1	SF3B4	BRSK2	SYNGAP1	CAMTA1	TAOK1	NEK1	PIGP	ODC1	MN1	JAM2	NCAPD3	SLC25A22	NEMF	AP1G1	MLYCD	DHX16	KLHL15
HP_ABNORMALITY_OF_THE_AUTONOMIC_NERVOUS_SYSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_AUTONOMIC_NERVOUS_SYSTEM	SNAI2	TNPO3	NOS1AP	COMT	TMEM237	ZEB2	CEP120	PRNP	CHCHD2	CCDC28B	RAD51	LEPR	SHH	PARK7	TBX5	FANCC	TGIF1	CEP41	WDR45	TBP	TMEM67	PIGW	RET	PAX3	WFS1	FANCF	AHI1	ERCC4	FANCD2	MITF	LIFR	DDX59	GCK	CDON	FOXH1	SALL4	ERBB2	IL12A	FGF8	FGFR1	KCNE2	TMEM216	EDN3	FANCL	NTRK1	COL5A2	TDGF1	GDNF	SPTLC2	MBTPS2	KIF1B	IL12RB1	CAV1	TXN2	SNCA	LEP	SOX10	RMRP	MAD2L2	AKAP9	FANCA	STIL	NRTN	B2M	VPS11	ATP1A3	SIX3	TCF4	SCN9A	CACNA1A	CALM3	SCN5A	PTCH1	DNAJC6	MAPT	ZIC2	NPHP1	PODXL	PIGV	ATXN3	BDNF	DISP1	GATA1	KIAA0586	DHCR7	CREBBP	ANK2	BCOR	PIGN	FANCB	MYO1H	FANCI	LRRK2	POU2AF1	ATP7A	FBXO7	HEXB	PRKN	DBH	CISD2	TBX1	GLUD2	ERBB3	VPS13C	L1CAM	INPP5E	TRDN	KIT	SMO	COL1A1	TTR	CEP104	SCN11A	COQ2	IRF5	GBA	SPIB	PGAP2	GAS1	MKKS	RAD51C	FANCE	BRAT1	SPTLC1	DLL1	VPS13A	NR4A2	NODAL	ARSA	GIGYF2	ECE1	ATRX	ELP1	PHOX2B	MKS1	EIF4G1	CSPP1	ZFHX4	SLC1A3	ARX	ARL13B	MECP2	TMEM138	EP300	PIGO	PSAP	COL25A1	BRCA2	XRCC2	ABCD1	GP1BB	RFC1	BRCA1	SNTA1	PPOX	TCTN2	TSPYL1	KCNQ1	LGI1	CALM1	STAG2	PINK1	GABBR2	DEPDC5	GSN	MMEL1	CYP11B2	GMPPA	PIBF1	CPLANE1	CHRNA3	CCT5	TCTN1	PIGL	ARVCF	GLI2	ACTG2	SNCAIP	TWNK	UFD1	CC2D2A	SH2B1	DNAJC13	EDNRB	KCNE1	BBS1	SLC6A2	NSD1	PLA2G6	HIRA	CEP290	PALB2	SETD2	ARL6	SMC1A	FANCG	SLC6A8	TUBB3	FOXF1	SETBP1	B9D1	POLR3A	GNB2	KCNJ5	NAA10	CAV3	SEC24C	CYB561	CACNA1C	SEMA3D	ATXN8OS	FANCM	APC2	MT-TT	ZNF423	BRIP1	SCN3A	SIM1	ATL3	ASCL1	KATNIP	CBY1	PGAP3	KITLG	SLX4	KIFBP	SCN4B	GLA	ATL1	SCN10A	RAD21	SLC18A2	KRAS	LMNB1	ACOX1	JMJD1C	RELN	ATXN2	RPGRIP1L	ADH1C	HYLS1	ATP1A2	ARMC9	TYR	HTRA2	UBE2T	CALM2	SUFU	GBE1	SPG11	ARL3	VPS35	SYNJ1	TNFSF15	TMEM231	COL5A1	SREBF1	AAAS	SF3B4	RFWD3	UCHL1	PIGY	KCNH2	FMR1	SEMA3C	RREB1
HP_TETRAPARESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TETRAPARESIS	RERE	KCNQ2	AUH	AFF3	TACO1	MRM2	NAXE	HSD17B10	GAD1	POLR3K	KCNJ6	FA2H	TARDBP	L2HGDH	PRPS1	PDHX	LIPT2	LMNB1	CHCHD10	LIPT1	SLC19A3	COA8	SDHB	ARFGEF2	LIMS2	PNP	NMNAT1	SDHA	ATP6V1A	NEK1	LRP4	NUP62	CARS2	VCP	SLC25A10	UGP2	GSS	MT-ATP6	ADAR	REEP1	PSEN1	LMX1B	FUS	ALS2	SOD1	PRDM8	PHACTR1	EIF2S3	EXOSC8	TBCE	SLC18A2	GALC	HINT1	PLP1	BSCL2	PLA2G6	RNU7-1	GM2A	ARX	APOE	TBK1	ERLIN2	SMC1A	CA2	SQSTM1	COL4A1	ATP1A2	FAR1	AASS	MFSD2A	PRUNE1	ALG3	UCHL1	GBE1	PSAP	ATP1A3	LYRM7	C9orf72	SLC35A2	TNR	CACNA1A	SLC1A3	TNFRSF11A	AGTPBP1	PAFAH1B1	GJA1	TMEM222	NEXMIF	SOX4	ABCD1	PSAT1	STXBP1	IFIH1	EARS2	WDR62	SDHAF1	FBLN1	TRAPPC4	SDHD	NDUFS3	MOCS1	STAMBP	DYM	SARDH	PPOX
HP_POOR_MOTOR_COORDINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POOR_MOTOR_COORDINATION	RTL1	ADGRV1	MEG3	SLC2A3	SCN1B	FKRP	VPS13A	GABRG2	PDHX	SCN1A	NTN1	PMPCA	DLK1	NDN	SBF2	AASS	RAI1	HERC2	PIEZO2	ZEB2	DARS2	FXN	SNRPN	KCNQ2	FMR1	SCN2A	C19orf12	GNB5	RNU12	PCDH19	PWRN1	GABRA1	VCP	ALMS1	GMPPB	PPP2R2B	MMACHC	CLN5	MKRN3	DNAL4	SNORD115-1	GDAP1	POMT2	CXCR4	RDH11	GCDH	SCN9A	STX1B	THG1L	SLC30A10	HTT	BSCL2	MFN2	DCC	GABRD	ATP7B	MTRFR	BMPR1B	POMT1	PRNP	DCX	HCN1	NPAP1	MAGEL2	SNORD116-1	RAD51	FOXP2	PWAR1	LARGE1	CAMTA1
HP_ENLARGED_CISTERNA_MAGNA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_CISTERNA_MAGNA	PACS2	APC2	RAC1	AFF3	CNOT3	SLC35A2	KATNB1	FOXC1	VPS51	OFD1	PLPBP	TIMMDC1	SLC13A5	NSD1	PMPCA	POGZ	POLR2A	SH2B1	SETD2	CSPP1	OPHN1	SLC5A6	ALDH18A1	COG1	KIAA0586	BANF1	MAN2B1	NDUFC2	BRF1	ALDH7A1	SH3PXD2B	EDEM3	ACADVL	PMM2	CDH2	FAR1	POMT1	PIGU	PITX1	FLNB
HP_GRAY_MATTER_HETEROTOPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GRAY_MATTER_HETEROTOPIA	EPG5	SPEN	CRPPA	NEDD4L	DCHS1	VPS35L	RTTN	FAT4	POMGNT1	CEP85L	PIK3CA	ASPM	ASXL1	FGFR3	CENPJ	C2CD3	APC2	PMS2	CIT	FKTN	ARFGEF2	TBC1D24	CDH2	MLH1	MCPH1	INTS8	ZMIZ1	FMR1	CEP63	CRB2	LAMB1	CEP135	MAN1B1	OFD1	POMT2	ERMARD	KIAA1109	KANSL1	CSGALNACT1	POMT1	CSF1R	KNL1	HNRNPK	STIL	POMK	ADD3	LAMA1	USP18	CDK6	ARMC9	DCX	MFSD2A	EML1	MPDZ	TAF13	ZSWIM6	SLC25A24	KATNB1	KAT8	AKT3	FKRP	RALGAPA1	TUBA1A	PYCR2	CEP152	METTL5	TUBG1	TUBGCP2	KAT6B	TUBB2B	PDHB	ZEB2	SASS6	HYLS1	MED12	FLNA	PEX1	ZNF292	COPB2	TMTC3	GMPPB	PTEN	TMEM107	PAFAH1B1	B4GAT1	CPLX1	COL4A2	ALG11	PHC1	ARF1	ANKRD11	GPSM2	KIF2A	TRAPPC14	WDR62	KIF14	CDK5RAP2	MAP1B	RNU4ATAC	ANKLE2	DHCR7	PPP1R12A	NCAPD3	AKT1	DHX16
HP_GLOBAL_BRAIN_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLOBAL_BRAIN_ATROPHY	TBK1	WDR81	TBCK	GABRG2	SQSTM1	GFM1	PRNP	TXN2	UNC80	TARDBP	ALG13	CYB5R3	SMG9	L2HGDH	SCN1A	SCN1B	SCO2	TIMM8A	CHCHD10	SCN2A	COPB1	ST3GAL5	SURF1	PCDH19	C9orf72	GABRA1	PLA2G6	RAB3GAP2	PNPO	PUF60	TDP1	NDUFS2	SCN9A	ABCD1	NDUFB8	SATB1	RNF113A	SPATA5	AIMP1	OTUD5	CYP27A1	FUS	SON	PSAP	TANGO2	CYB5A	NDUFAF3	PANK2	ALG9	DPAGT1	PYCR2	ACTL6B	VCP	PIGT	ARX
HP_FAIR_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FAIR_HAIR	UROC1	BLOC1S5	MOGS	SLC17A5	KANSL1	ABCA2	AP3B1	UBE3A	TP63	LPAR6	PDE4D	SNRPN	PRKAR1A	PAH	UBR1	RMRP	PIGN
HP_ALOPECIA_UNIVERSALIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALOPECIA_UNIVERSALIS	HR	AIRE	LMNA	DSP	PKP1	IL2RA	PERP	AHSG	VDR	TRPV3
HP_FRONTAL_BALDING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRONTAL_BALDING	SYNGAP1	DMPK	CNBP	SLC6A1	ABCD1	NR3C1	SLC2A1	CHD2	SCN1A	ALMS1	NEXMIF	WNT4	AP2M1	PQBP1
HP_ALOPECIA_OF_SCALP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALOPECIA_OF_SCALP	SLC27A4	MPLKIP	SLC39A4	LAMB3	PLEC	COL17A1	UROS	KRT74	GTF2H5	GJB2	UROD	GATA1	TARS1	TTC7A	RHOA	CLDN1	COL3A1	ITGB4	TP63	RNF113A	SLC29A3	GTF2E2	KLHL24	EBP	CDSN	ERCC2	GJB6	LAMA3	ECM1	MBTPS2	KRT14	LAMC2	ERCC3	HTRA1
HP_RED_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RED_HAIR	TYRP1	OCA2	PDE4D	PRKAR1A	ZNF469	POMC	MC1R	PCSK1
HP_ABSENT_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_HAIR	PHGDH	UBE3B	CYP17A1	SOX18	GNRH1	TWIST2	GJA1	EDA	APOE	SMARCA2	TTC7A	RIPK4	BRAF	GJB6	POLR1D	ALX1	SNRPE	MTX2	MAP2K2	PPP2R3C	GJB2	NECTIN4	RECQL4	MBTPS2	HOXC13	DSP	ZMPSTE24	JUP	AR	POLR1C	EDARADD	ZBTB20	ODC1	TBX3	TP63	LMNA	KRT85	NR5A1	UROS	EPS8L3	POLR1B	HR	CDH3	FRAS1	AXIN2	LRP1	ANAPC1	KRAS	TCOF1	CWC27
HP_BRITTLE_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRITTLE_HAIR	OFD1	SEC23A	EDA	KRT81	ASL	KRT25	BCS1L	SKIV2L	KRT83	GJB6	LIPH	KRT86	ERCC3	LPAR6	MAP2K1	TRNT1	KRT71	GJA1	GTF2H5	CBS	RPS23	NECTIN1	MAP2K2	ATP6V0A2	KRT74	ZMPSTE24	DSG4	ATAD3A	PRR12	MPLKIP	TTC37	CDH3	SLC25A24	TARS1	RNF113A	CDSN	CARS1	KRT85	PORCN	KRAS	GTF2E2	SCUBE3	ERCC2	ST14	PQBP1	BRAF	SPINK5
HP_MUTISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUTISM	GRIN1	TBK1	SLC2A3	SETBP1	KRAS	SQSTM1	TREM2	PSEN1	COL1A1	PLEC	FGFR1	TMEM106B	GRIN2A	COL1A2	EHMT1	GRN	CKAP2L	TARDBP	SMARCA2	NTNG1	ASAH1	ACTB	ATP1A3	CHCHD10	CHMP2B	TCF4	SLC19A3	ADAMTS2	VCP	C9orf72	TBP	PRDM8	PIK3C2A	ACTG1	MAPT	HCCS	COX7B	CSF1R	HNRNPA2B1	AMER1	SMC1A	HTT	FUS	NDUFB11	NDUFA6	PRPS1	GABBR2	ADAMTSL2	CDKL5	FTL	SLC9A6	MECP2	HNRNPA1	GLE1
HP_HEMIPLEGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMIPLEGIA	CACNA1A	ADA2	GALC	KRAS	SUOX	COL4A1	FGFR1	SPP1	ARX	ATP1A2	SLC1A3	SCN5A	SCN1A	PRTN3	MT-CYB	CTLA4	PRRT2	IRAK1	ATP1A3	SMARCAL1	NPPA	HLA-DPA1	PRF1	NOTCH3	GNAQ	SNORD118	CTC1	PAH	DOCK8	STAT4	TBC1D24	PTPN22	HLA-DPB1	COL4A2
HP_AKINESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AKINESIA	MAPT	DOK7	SNCA	FLVCR2	RAPSN	MUSK	ERBB3	GBA	GIGYF2	TMEM240	DNAJC6	CHRNG	FXR1	CHRNA1	DCTN1	ATP13A2	NEB	CP	LRRK2	NUP88	KARS1	PANK2	EIF4G1	VPS35	DNAJC13	SLC18A3	VPS13C	TOR1A	FGF14	DPAGT1	CNTN1	PODXL	MYOD1	CHRND	SYNJ1
HP_ATHETOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATHETOSIS	SCN8A	ABCC8	PLP1	ACO2	POLR3K	AUH	TWNK	FOXRED1	SLC16A2	SLC46A1	WARS2	UBA5	CYB5R3	HCFC1	CACNA1D	PDGFB	SLC17A5	PRRT2	KIF5A	SLC6A8	NGLY1	DDC	UQCRQ	ALDH18A1	TRAPPC11	PHGDH	SUCLA2	UBQLN2	GAMT	FOXG1	GCDH	NDE1	PIGV	PDGFRB	RNASET2	DPYSL5	CUX2	PIGN	GNAO1	SLC20A2	EPRS1	SMPD1	CYB5A	KCNA1	CACNA1A	PDE2A
HP_CHIARI_MALFORMATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHIARI_MALFORMATION	RFWD3	MAF	DNMT3A	MLXIPL	FGFR2	KRAS	NOVA2	KANSL1	LEMD3	ELN	PIK3CA	TMEM270	GTF2I	NCF1	RFC2	CTSK	FOXF1	ERF	LIMK1	EIF4H	GNAQ	HMGA2	SIK3	SETD2	BICRA	FKBP6	CREBBP	STX1A	FANCI	RRAS2	BAZ1B	SON	MAN2B1	PHEX	NOTCH2	BUD23	DNAJC30	SC5D	CHD4	FGFR3	NONO	GTF2IRD2	DKK1	VANGL1	TBL1XR1	NOTCH3	SH2B1	POR	VPS37D	PPP1CB	EP300	ZEB2	TAOK1	BCL7B	FBN1	SKI	SMO	SLC39A14	PTCH1	PTH1R	PAX2	TGFBR1	TONSL	HRAS	SMARCA2	SALL1	POLR3A	FUZ	CDC45	FLNA	NFIA	SETBP1	ZIC1	MAP3K7	SPRED1	DACT1	NFKB2	MKS1	PORCN	METTL27	TBL2	CLIP2	TGFBR2	DHDDS	PPP1R12A	GTF2IRD1	FGFR1	CWC27
HP_OROFACIAL_DYSKINESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OROFACIAL_DYSKINESIA	JAM2	PLP1	COQ2	MRE11	VPS13A	PDE10A	FGF14	IREB2	ATXN7	ADCY5	CYP27A1	SLC35A1	GNAO1	PNPT1	MICU1	PANK2	FTL	SLC18A2	LRPPRC	PRKRA	PRRT2	CHMP2B	SLC6A3	EXOSC5
HP_INCOORDINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCOORDINATION	EEF2	HSD17B10	PRNP	PYROXD1	LZTFL1	EED	MT-TE	MLXIPL	KDM4B	SPTLC1	CCDC28B	MAPT	ABCD1	TPP1	TIA1	HAX1	PMP22	FA2H	SDHA	RRM2B	TSHB	PIK3R5	COQ2	SQSTM1	GRM1	ABCA2	AFF2	ALG2	LYST	ATXN3	SLC19A3	RNU12	GDAP2	PCDH19	GABRA1	HADHA	TBC1D24	DNAL4	KBTBD13	NIPA1	MYPN	NUP62	SET	KIF1C	SCN9A	HADHB	TUBG1	TWNK	HTT	PDE10A	DCC	MT-ATP6	COLQ	LRRK2	CHP1	ASAH1	GALT	TAF1	POLG	RAD51	HUWE1	DNAJC13	RNF125	COL6A1	BBS1	ALG14	NSD1	TPM2	DEAF1	ADGRV1	ARG1	PSAP	TPM3	MTR	LAMB2	NTN1	NOL3	TXN2	PLEC	SETD2	ARL6	GFPT1	ATXN10	SGCG	ADSS1	PMPCA	CLN5	DARS2	COL6A3	GABRG2	SCN1A	CAV3	SCN2A	FKRP	FHL1	C19orf12	TCF4	PLA2G6	ALMS1	TCF20	TBC1D23	HEPACAM	GDAP1	CAPN3	NKX2-1	FIG4	SLC25A4	MRE11	DYRK1A	POLR3A	POLG2	GRID2	POGZ	GABRD	TANGO2	CWF19L1	CREBBP	MTPAP	NEFH	COL6A2	TTC19	MAN2B1	DYM	ACTA1	PDE2A	SLC22A5	MPZ	DYNC1H1	APC2	SNCA	CRPPA	NEB	PI4KA	DAB1	GCH1	ATP6AP2	CACNA1A	KCND3	ALG13	TGM6	PANK2	LMBRD1	UBE3A	KCNA1	SDHB	FKTN	VCP	ARSA	ATP1A3	TTN	SLC52A2	SIM1	SGCA	CLN8	RPL10	ELN	ATP2B3	COL12A1	SLC25A15	NIPA2	GBA	GMPPB	ATL1	PDCD1	CLCNKB	ADAR	SYNGAP1	MICU1	KCNC3	SLC18A2	HCN1	MTHFR	RNF168	SYNE1	GALC	ACOX1	DPAGT1	HINT1	MTFMT	SLC25A1	SCYL1	ARHGEF2	NOP56	SLC2A3	SCN1B	BSCL2	FRRS1L	VPS13D	MED13L	KLHL41	YWHAG	HLA-DRB1	ATP7B	POMT1	GIGYF2	ERCC4	AASS	GRIN2A	PMP2	VWA1	ELP1	SLC6A8	SPTBN2	RPIA	SCO2	STIM1	COX20	EIF4G1	VPS35	RORA	B4GALNT1	SH3TC2	BSND	GLRA1	GJB1	ATXN8OS	CPLX1	RDH11	EP300	STX1B	GPHN	CARS1	MFN2	SDHAF1	PAK3	SDHD	HLA-DQB1	SLC52A3	SNRPN	CLCNKA
HP_CLUMSINESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLUMSINESS	DEAF1	SLC2A3	PSAP	GALC	FRRS1L	NEB	TIA1	NTN1	KDM4B	KLHL41	ARSA	ATP7B	PLA2G6	TWNK	AASS	TPP1	HAX1	PMP22	SDHA	TSHB	ALG13	CLN5	SQSTM1	DARS2	MAPT	CAV3	SCO2	AFF2	ATXN3	UBE3A	KCNA1	TBC1D24	MYPN	BSND	HEPACAM	DNAL4	SLC52A2	GJB1	KBTBD13	CAPN3	CPLX1	NKX2-1	ACTA1	TTN	CLN8	ATP2B3	POLR3A	HTT	PRNP	DCC	PAK3	CLCNKB	MAN2B1	MICU1	KCNC3	CWF19L1	RNF168	GALT	ASAH1	SLC52A3	TPM3	RAD51	SYNE1	RNF125	SNRPN	PANK2	ACOX1	GRIN2A	TPM2	CLCNKA	SLC22A5	MPZ
HP_SPASTIC_PARAPARESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTIC_PARAPARESIS	ARG1	SPG7	GALC	ABCD1	MTPAP	RNASEH2B	SELENOI	BTD	MED13L	PPP1R15B	PLP1	ADAR	COASY	FAR1	SPART	WDR45	C19orf12	AFG3L2	TRMT10A	GJA1	SDHB	PNP	SDHA	POLG	SPG21	PEX16	MICOS13	GJC2	MTHFR	MTRFR	CCDC88C	OPA3	CPT1C	GBA	SLC30A10	SLC25A15	IDUA	MAG	AIMP1	SDHAF1	FA2H	CYP27A1	ATP6AP2	SDHD	GOT2	TBCE	RNASEH2A	TTC19	SOX10	TREX1	EDNRB	RNASEH2C	BCOR	IFIH1	POLR3GL	SAMHD1
HP_DEGENERATION_OF_THE_LATERAL_CORTICOSPINAL_TRACTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEGENERATION_OF_THE_LATERAL_CORTICOSPINAL_TRACTS	SLC33A1	KPNA3	TBK1	SPG7	SPG11	SQSTM1	CHCHD10	CPT1C	C9orf72	NIPA1	NEFH	SOD1	PLP1	PRPH	SPAST	DCTN1	UBAP1	WASHC5	VCP	TARDBP	ATL1	FUS	RTN2
HP_HEADACHE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEADACHE	NPHS1	FASLG	IL12A-AS1	IL12A	SLC25A4	OPA1	CFH	CDKN2B	CACNA1A	MSX2	SLC2A1	LPIN2	GBA	NLRP3	DNM1L	SDHA	MT-ND5	KYNU	CTLA4	SLC25A11	PRRT2	SH2B3	SQOR	KRIT1	NPPA	ERF	YEATS2	JAG1	CDKN1A	ELANE	AMER1	BAP1	MTHFR	HLA-B	NHLRC1	RNASEH1	WT1	ERAP1	TWNK	MT-TH	VANGL1	SMARCE1	HELLPAR	SPP1	PAX2	DNMT3A	NF2	TWIST1	DLST	CASP10	TRAF3	USP8	MT-CO1	DNAI1	TRAF7	ADA2	RASA1	GPR101	MT-ND1	CLCNKB	POLG	TREX1	MLX	COL5A2	RET	RNASEH2C	STAT4	SMAD3	IFIH1	F8	ITGA7	CNTN2	MVK	CDH23	UNC93B1	CYP11B2	RPS20	CTNNB1	CYP11B1	SCN5A	APP	CYB5R3	MT-TF	EDNRA	STIM1	NDP	COL5A1	COPB1	ATP1A3	ADRA2B	HLA-DPA1	NOTCH3	MT-ND6	AMACR	ACVRL1	NUP37	ATP1A2	EPCAM	MT-CO2	POLG2	SLC19A2	KIF1B	MARCHF6	PLCE1	MAP3K20	FLI1	SCN1A	MT-TL1	TERT	GP9	PDGFB	ACTA1	PGK1	PEX11B	TLR3	JAK2	GATA2	VHL	MYD88	NUP160	PIK3CA	RELA	GAPVD1	PTPN22	ENG	MPL	CD2AP	MEFV	ADAR	MLH3	TLR4	SDHAF2	AP2S1	APC	MT-TC	TGFBR2	TET2	FARSB	EMP2	CDC73	TGFB1	MAGI2	MSH2	CORIN	CD46	TNFRSF1A	KRAS	COL1A1	TPM2	GCDH	KL	SAMD12	FLT1	SDHB	LRP5	PDCD10	SDHD	IL12B	MT-CYB	CLTRN	SDHC	FGFR3	FAS	COL4A1	IFNGR1	EPHB4	ZFTA	NLRP12	PDGFRB	CNNM2	C4A	SRSF2	PRTN3	HTRA1	HACD1	BMPR1A	AIP	SLC1A3	SMARCB1	KIT	FAN1	HLA-DPB1	FGFR2	PTEN	ARHGAP24	IL23R	TMEM127	CTNND2	MT-TK	MT-ND4	RNASEH2A	SRPX2	KCNA1	ACP5	NFIX	SLC6A19	NF1	MT-TW	TBC1D8B	PRKCD	RRM2B	TICAM1	LGI1	MT-TV	NOP56	SMARCAL1	MT-ATP6	KIF23	DEPDC5	NUP85	SPOP	TP53	NUP107	MLH1	CFI	TPM3	MYO1E	SMO	IRAK1	COL4A3	NOTCH2	SH2B1	CPT2	UBAC2	SMAD4	AKT1	ADAMTSL1	ESR1	PIGT	DKK1	RNASEH2B	SLC12A3	HTR1A	EPM2A	EGF	STOX1	SEMA4A	PTPRO	CLCN2	MDH2	MT-CO3	SUFU	SOST	P4HA2	CCR1	GP1BB	MYL2	PMS2	GNB2	CRB2	ANLN	EPOR	PIGA	SAMHD1	CSNK1D	KCNJ5	CCM2	NUP133	GABRG2	RASGRP1	IL10	MT-TS2	NUP93	NAGS	KCNK18	PMS1	ASXL1	GDF2	MYORG	THPO	CDKN1B	COL3A1	ACSF3	RNF168	RELN	NPHS2	TNF	COQ8B	SELENON	MAOA	HLA-DRB1	MSH6	MEN1	BRAF	CACNA1D	APOL1	MAX	RYR1	FH	ZFHX2	GRIN2A	NUP205	GP1BA	KLRC4	ACTN4	FUZ	TTR	ALX4	MT-TQ	ARHGDIA	TRPC6	ANKFY1	CDKN2C	EPAS1	INF2	TBK1	IRF3	STARD7	BCAT2
HP_UNSTEADY_GAIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNSTEADY_GAIT	PNPO	WWOX	SACS	EIF2B1	AIFM1	EIF2B4	CHD3	VWA3B	PDHX	PRNP	DCC	SYNGAP1	DAG1	DAB1	STUB1	MGAT2	CWF19L1	LCA5	HTT	ATP6AP2	PMP22	CACNA1A	SDHA	CYP2U1	PCNA	CELF2	HERC2	SAMD9L	SLC1A2	SLC6A1	EEF1A2	PLA2G6	ATP1A3	SCN3A	CHD2	MAPK8IP3	KCNA2	MME	PPP2R5D	RAB11B	AARS1	SUCLG1	LRAT	NTRK2	PAK1	QRICH1	PRKRA	CLN5	EIF2B5	SZT2	AP2M1	DDHD1	PPP3CA	CRAT	CCDC88C	CLN8	ATP2B3	TPI1	ATP7A	ATP6V1A	NUS1	KIF1A	RNF170	GABRA2	OPA3	DCPS	ACTL6B	PDE10A	TRAK1	SPATA7	GABRG2	SCN8A	NEFL	RPE65	KDM5B	PEX2	CDK19	NF2	YWHAG	ERCC8	MTFMT	VPS13D	P4HTM	EIF2B2	DEAF1	DPM3	ARV1	BCL11B	GLRX5	CYFIP2	PACS1	ATXN8OS	KIF1C	PITRM1	RNASEH1	SLC13A5	ADSS1	PMPCA	TRPC3	MATR3	FGF12	DNM1	ATP1A2	SHANK3	GABRA5	DARS2	MAST1	KCNB1	HACE1	HCN1	SLC2A1	SCN1A	SYNJ1	FGF13	DHPS	RUBCN	PPP2R2B	GAN	GDAP1	NDRG1	BSCL2	GJB1	CNKSR2	PARS2	CACNA1G	EP300	UBA5	NECAP1	CLTC	SMS	CACNA1B	ERCC6	MCM3AP	ZSWIM6	MAPT	DHDDS	STAG2	CAMTA1	CLCN4	EIF2B3	VAC14	HPDL	VPS41	KCNQ5	SYT14	GABRB2	CREBBP	ALDH4A1	EXT2	GRIN2D	XRCC1	SGCA	ATXN10	CIZ1	FGD4	NAT8L	GARS1	NEXMIF	AP3B2	REEP1	DHX16	DALRD3	MPZ
HP_CERVICAL_MYELOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVICAL_MYELOPATHY	ARSB	GALNS	EXT2	GLB1	EXT1	COL2A1	NMNAT1
HP_VERTIGO	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERTIGO	NF1	SCN5A	PTPN22	IL12A-AS1	MPL	IL12A	RYR2	RET	BCOR	CACNA1A	JAK2	SLC1A3	STAT3	NKX2-5	SDHA	SCN2A	GCGR	HLA-B	RARA	TLR4	COCH	SDHAF2	SLC25A11	SH2B3	NOP56	TET2	NPPA	KCNA1	IL10	VHL	MED12	NAGA	TNFRSF1A	MYO7A	PML	CALM2	CDH23	GCDH	PDGFB	ERAP1	STAT5B	GYG1	TRDN	DNMT3A	NF2	THPO	DLST	COL3A1	SDHC	TECRL	NABP1	ADA2	CLCNKB	STAT4	UBAC2	SDHB	CCND1	ATP1A2	TRPM4	CNNM2	DKK1	HLA-DRB1	NUMA1	SLC12A3	IFNGR1	MEFV	SLC26A4	CALM3	PRKAR1A	CACNB4	CALM1	CTNNB1	BRAF	C4A	EGF	SCN1B	MAX	RYR1	TBL1XR1	AIP	FH	DBH	MDH2	KLRC4	CASQ2	IRF2BP2	P4HA2	KCNJ10	FOXI1	MYL2	TPK1	CCR1	MEN1	NPM1	KIF1B	FIP1L1	FLI1	IL23R	SCN1A	JUP	TMEM127	EPAS1	GLA	PRRT2	CACNA1G	EPOR	SDHD	FAS	MVK	GATA2	ZBTB16	MYD88
HP_RESTING_TREMOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESTING_TREMOR	ATXN8OS	POLG	VPS13A	PARK7	NR4A2	MECP2	SNCA	ATXN2	EIF4G1	CHCHD2	ADH1C	GCH1	GIGYF2	RAB39B	DNMT1	DNAJC6	MT-TT	RRM2B	ADCY5	NTNG1	GBA	COQ2	ATP6AP2	GLUD2	FMR1	TBP	VPS35	PINK1	ATP1A3	SLC25A4	MAN1B1	MAPT	PSAP	SMC1A	TWNK	POLG2	OPA3	CYP27A1	LRRK2	MICU1	UQCRC1	GABBR2	CACNA1G	CDKL5	SNCAIP	FTL	TAF1	DNAJC13	VPS13C	ATP13A2	PODXL	SYNJ1
HP_ANENCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANENCEPHALY	PHGDH	B9D2	COMT	VANGL1	RNASEH2B	FLVCR2	RPGRIP1L	HIRA	TMEM216	CEP290	HYLS1	ADAR	SF3B4	FUZ	FIG4	TBX1	TBC1D24	KIF7	VANGL2	CCL2	TMEM107	KIAA0586	DACT1	TBX15	TCTN2	TRIM36	TMEM67	SMOC1	B4GAT1	WDR81	VAC14	MKS1	GPKOW	NDE1	CC2D2A	NUAK2	B9D1	CSPP1	TBXT	TMEM237	RPGRIP1	TCTN3	ARVCF	SEC24C	CHD7	FANCB	RREB1	HOXD13	GP1BB	RNASEH2A	UFD1	SNRPB	TXNDC15	TREX1	RNASEH2C	CEP55	TCTN1	TMEM231	IFIH1	GLI3	ATP6V1B2	SAMHD1	SEMA3E	JMJD1C
HP_HYDRANENCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYDRANENCEPHALY	PHGDH	SNRPB	CEP55	GPKOW	NDE1	FLVCR2	TBX15	WDR81
HP_TRANSIENT_ISCHEMIC_ATTACK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRANSIENT_ISCHEMIC_ATTACK	CALR	ENG	MPL	TGFBR1	MYBPC3	LOX	SMAD3	RNF213	SMARCAL1	MAT2A	SMAD4	TBX20	ELN	GATA6	TGFBR3	SH2B3	SMAD2	ACTB	ABCC6	HTRA1	NOTCH3	TP53	TGFB2	ACTG1	FOXE3	ACVRL1	ANGPTL6	PRKG1	NKX2-5	MYLK	GATA4	ACTA2	COL3A1	GLA	JAK2	GDF2	ZMPSTE24	THPO	TGFB3	CITED2	TLL1	THSD1	HEY2	TET2	SON	TGFBR2	MYH11	LMNA	FBN1	MYH6	ACTC1	ENPP1	KRAS	MFAP5	ADAMTS13
HP_DROWSINESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DROWSINESS	SLC25A13	CHRND	CHRNB1	SCN4A	CACNA1A	UCP2	MTRR	KCNJ11	HCRT	THRA	SPR	CHRNA1	AK9	KIF1A	HNF1A	MAN2B1	DOK7	LONP1	SLC19A3	RAPSN	SLC13A3	MT-CYB	MUSK	PTS	FBP1	CHRNE	HNF4A	ZNHIT3	PIGG	AGRN	ABCC8	PDHA1	LRP4	COL13A1	ATP1A2	NAGS
HP_RECURRENT_PAROXYSMAL_HEADACHE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_PAROXYSMAL_HEADACHE	NF1	SDHC	SDHB	MT-ND6	DKK1	RET	MT-CO2	MT-TH	KIF1B	DNMT3A	SDHA	DLST	MT-TL1	TMEM127	MT-CO1	MT-TF	SDHAF2	EPAS1	SLC25A11	MT-ND1	MT-ND4	MAX	SDHD	VHL	MT-ND5	FH	MT-TS2	MT-TQ	MDH2	MT-TW	MT-CO3
HP_LACK_OF_PEER_RELATIONSHIPS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACK_OF_PEER_RELATIONSHIPS	SCN1A	NLGN4X	MECP2	SYNGAP1	SLC6A1	NEXMIF	NLGN3	SLC2A1	CHD2	AP2M1
HP_MOTOR_DETERIORATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOTOR_DETERIORATION	CLN5	RBM28	SDHD	PRKAR1B	TK2	CLN8	FRRS1L	HGSNAT	CLN6	SDHB	MECP2	PLEKHG4	NOTCH3	SDHA	GALC	PAH	GRIN2A	SDHAF1
HP_ABNORMAL_CEREBELLAR_VERMIS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CEREBELLAR_VERMIS_MORPHOLOGY	RERE	SACS	WDR81	ACY1	FKTN	OFD1	TMEM237	ALX4	CEP120	B3GALNT2	SEMA6B	TMEM216	TBCK	CACNA1A	CDKN1C	GPC3	CDC42	MPL	CEP290	KCNQ1OT1	CEP41	PIEZO2	DAG1	RAB11B	TMEM67	PCYT1A	FAM149B1	AHI1	SYT2	GPC4	LAMB1	MAB21L1	ODC1	B9D1	RDH12	EBF3	TMEM240	SMARCA4	CHP1	ARMC9	TOGARAM1	LARGE1	CNTNAP2	MID1	PHGDH	SLC25A24	RAC1	NRAS	SMARCB1	SRD5A3	CRPPA	NUP37	TCTN1	BUB1B	ATP6V1A	ZEB2	ALG3	WDR73	SMG9	FOXC1	KIAA0586	ARID1A	COL4A1	DYNC2I1	POMGNT2	GRID2	EBP	TOPORS	SOX11	PLG	NPHP1	ARID1B	CHD7	RAB3GAP2	RAB18	TSEN54	CSPP1	SMARCE1	PIGN	POMT1	RNU4ATAC	KATNIP	DHCR7	RBM10	CWF19L1	BRF1	CPT2	CEP57	NPHP3	LCA5	FTO	ATP6V1B2	FAR1	SPATA7	ZIC1	ASXL1	ADGRG1	TSEN34	MRE11	USP45	TRRAP	VPS4A	RAB3GAP1	USP9X	PTEN	SIL1	C2CD3	POMT2	PRKCG	L1CAM	INPP5E	GRM1	CRX	TMEM138	KIAA0753	DOK7	CEP104	TMCO1	RNF113A	BMP4	ATR	SMARCD1	FA2H	TULP1	MEF2C	B4GALT1	GOT2	EXOSC8	PI4KA	PMM2	POMK	EVC	ZNF423	RPGRIP1L	FLVCR2	TUBA1A	PMPCA	VPS41	KCNJ13	PPP1CB	GLI3	NUP88	TMEM107	MKS1	BUB1	RPGRIP1	PIGU	GJB1	ARL13B	FRMD4A	LRRC32	TRAPPC9	B4GAT1	TRIP13	PGAP1	ASXL3	CC2D2A	PSAT1	MME	ATP6V0A2	TAF1	PDE6D	DYNC2H1	CPLANE1	ITPR1	PRKDC	SETX	IFT172	CACNA1G	HTT	MYOD1	BCOR	WDR35	TCTN2	LAMA1	FKRP	RPE65	VPS35L	ARID2	XRCC4	KRAS	IFT140	SRPX2	FIG4	TBC1D24	NOP56	RNU12	IGF2	TFAP2A	TMEM231	RXYLT1	VPS51	THG1L	PIBF1	DCHS1	CENPF	RAPSN	KIF1A	DLG4	CCDC32	LMX1B	SEMA3E	IMPDH1	CUL4B	NSD1	AIPL1	ATXN1	PACS1	GUCY2D	SOX4	FGFR1	SETD2	SMARCC2	ATXN8OS	COG1	HYLS1	TSEN15	WASHC5	TRPC3	TBC1D20	SEPSECS	PIGS	FDXR	TUBB3	POLR3A	TDP1	GJB2	LRAT	STXBP1	BUB3	EXOC2	QARS1	HRAS	B9D2	APC2	AFF3	MVK	FAT4	HHAT	THOC2	GDF6	SPECC1L	OPHN1	PIK3R5	DPH1	TSEN2	NCAPG2	PUM1	DPF2	DYNC2I2	GMPPB	MYO5A	RD3	CBY1	TUBB	PAFAH1B1	ATP2B3	CCDC22	KIF7	TCTN3	POMGNT1	INPP5K	ARL3	EVC2	SLC18A3	TXNDC15	PCGF2	SLC25A19	NMNAT1	SCYL1	WARS2	DENND5A	SUFU	ATP6V1E1	CACNA2D2	CRB1	CEP164	COX20	SLC35A2	ATN1	INTS1	KCNQ1	PEX16	AP1S2	IQCB1	MUSK	DPYSL5	EPG5	GRIA3	IFT80	DAB1	NEK1	PPP1R21	MDH1	TMEM218	GJB6
HP_AGENESIS_OF_CEREBELLAR_VERMIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGENESIS_OF_CEREBELLAR_VERMIS	ZEB2	TMEM216	RNU4ATAC	TFAP2A	INPP5E	MVK	PDE6D	ALX4	CEP290	MEF2C
HP_ABNORMAL_CAUDATE_NUCLEUS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CAUDATE_NUCLEUS_MORPHOLOGY	SLC2A3	VPS13A	GCDH	NDUFS2	NDUFB8	HTT	JPH3	BSCL2	OPHN1	MT-ATP6	COASY	ADAR	NDUFAF5	TUBB2B	ATP13A2	DCX	SCO2	TIMM8A	TYROBP	SURF1	NDUFAF3	FTL	FOXP2	TREM2	NUP62
HP_CAUDATE_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAUDATE_ATROPHY	SLC2A3	VPS13A	TIMM8A	TYROBP	FTL	HTT	FOXP2	JPH3	BSCL2	TREM2	OPHN1	NDUFAF5
HP_CERVICAL_CORD_COMPRESSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVICAL_CORD_COMPRESSION	COMP	IDS	ARSL	CREBBP	EXTL3	EP300	IDUA	RMRP
HP_INTELLECTUAL_DISABILITY_MODERATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTELLECTUAL_DISABILITY_MODERATE	LAMA1	SETBP1	INPP5E	TMEM67	DCPS	CACNA1I	ALX4	MT-TE	NCDN	ARID2	CLCN4	CDK5RAP2	KANSL1	MED25	PIGC	PREPL	CDH15	ZC3H14	SNRPN	ENTPD1	KIF1A	ZNF41	XYLT1	GDI1	FTSJ1	TBC1D24	YY1	CAMKMT	FGFR2	TOR1A	CC2D2A	PIGW	APC	EGF	PGM3	FMR1	PUF60	TRAPPC9	SARS1	MAN1B1	SLC16A2	DCHS1	PRMT7	TTI2	CHRNA7	NCAPD2	TWIST1	NHS	ERBB4	RSPRY1	SMARCA4	MYT1L	TBCD	CACNG2	CASK	PIGL	SLC9A7	COL1A2	CDH11	KDM5B	PTRH2	CNKSR2	PLP1	DPAGT1	C12orf4	CNTNAP2	NSD1	AP1S2	CC2D1A	TMEM70	IQSEC1	MAB21L2	SOX4	CAMK2B	SMARCB1	MED12L	FMN2	GRIN1	SETD2	SMARCC2	MBD5	ZMYND11	DMD	CIC	FRRS1L	SHANK3	MED13L	ARHGEF6	COG1	PIGV	TRPM3	DLL1	SLC3A1	ASH1L	NBEA	ARID1A	IQSEC2	CUX1	KIRREL3	ACSL4	PSPH	MBOAT7	TCF4	SMOC1	HNMT	SYP	DMXL2	CHAMP1	SOX11	DEAF1	MAGEL2	OCA2	PPM1B	SMARCE1	ZNF711	CRBN	KLF13	GRM7	ARID1B	TSPAN7	TTC5	EPB41L1	GRIN2A	LINS1	TUSC3	FBLN1	MED12	LMAN2L	PTDSS1	CWF19L1	UBE4A	NSUN2	HMGCL	SLC45A1	EZR	IL1RAPL1	USP9X	PDE2A	TGM6	STAG2	APC2	ARX	SLC35A3	RSRC1	TNIK	FAT4	CLIP1	PRICKLE2	SCN1A	OPHN1	VPS16	WASHC4	PGAP1	CAMK2A	PPP2R5D	NDN	HIVEP2	PAX1	DPF2	KIF5A	NCAPH	DLG3	PGAP3	PPP3CA	UFSP2	EXT2	MID2	NDST1	GRIN2B	SET	SMARCD1	SRCAP	PGAP2	SPATA5	FGFR3	EEF1A2	TAF1	NAA20	FOXP1	L1CAM	SYNGAP1	HNRNPK	TECR	PCDH19	FBXO31	SLC12A2	EBP	PRPS1	FRMPD4	ALG13	DYNC1H1	RAB39B	GTF2E2	UBE2A	ANK3	CUL4B	STEEP1	RNU4ATAC	TUBB3	CNNM2	DNMT3A	SETD1B	PRSS12	RPGRIP1L	B3GALNT2	CENPJ	AGTR2	GRIK2	PIGO	RBMX	KCNQ5	WARS2	CRADD	SATB2	HPRT1	METTL23	ST3GAL3	ALKBH8	COG5	CLTC	AIMP1	DOCK8	RAB11A	UPF3B	RPS6KA3	EDC3	CPLX1	POLR3A	MED23	RDH11	CSNK2B	MECP2	ZIC1	ANKRD11	SHMT2	ASXL3	FAM126A	GLUD1	PTCHD1	THOC2	BRSK2	PIGY	GRIA3	USP27X	COQ8A	NDUFAF5	TAOK1	ZNF81	PAK3	AKT1	RTTN	NEMF	NFIX	AP1G1	HCFC1	WDFY3	CWC27
HP_PROGRESSIVE_NEUROLOGIC_DETERIORATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_NEUROLOGIC_DETERIORATION	HEXB	MCOLN1	TIMMDC1	NAGLU	PMPCA	NHLRC1	ARSA	ATP1A2	RRM2B	QDPR	KCTD7	SUMF1	GALC	GBA	EPM2A	HSD17B10	ATP1A3	MICOS13	SDHB	VCP	SDHA	PSAP	KARS1	CACNA1A	SLC1A3	PTS	PDGFRB	CTNS	CNTNAP2	SYNJ1	ERCC6	GLB1	BSCL2	GRN	HEPACAM	HIBCH	TINF2	SDHAF1	CYP27A1	NDUFA6	SDHD	HNF4A	LMNB1	ITM2B	TREX1	GCH1	LRPPRC	RAB27A	IDUA	ERCC8	ALDH18A1
HP_ACTION_TREMOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACTION_TREMOR	SACS	ITPR1	LAMA1	PARK7	POLG	ALS2	SLC9A1	SEMA6B	BRAT1	STUB1	AKT1	TPP1	MT-CYB	VLDLR	PMP22	MT-ND1	COQ2	IFRD1	FXN	FLVCR1	RFC1	NOP56	SLC19A3	RNU12	PCDH19	GABRA1	TBP	PRKRA	ATP2B3	ERCC3	KIF1C	DRD3	MPLKIP	GCH1	CCDC88C	SCN9A	THG1L	MT-ATP6	CTDP1	POLR3A	REEP2	OPA3	GTF2E2	MT-ND4L	GALT	PEX10	MT-ND4	POLR3B	ATXN2	NONO	ATXN1	TENM4	MT-ND6	PLP1	EIF2AK2	SPTBN2	SNCA	PITRM1	COL6A3	MT-ND5	MT-CO1	MAG	XPNPEP3	SCN1A	SCP2	SCN2A	SPTBN1	KNSTRN	NIPA1	PPP1R15B	CSTB	ACBD5	PPP2R2B	MYBPC1	FUS	NDRG1	GJC2	NKX2-1	FARS2	TH	GTF2H5	ANO10	TARS1	ATN1	PSAP	TSPOAP1	MPZ	TMEM240	PLA2G6	TMEM63A	ALDH18A1	MT-CO3	ERCC2	TMEM106B	CWF19L1	NKX6-2	TUBB4A	SCARB2	TGM6	FBXO7	GABRG2	VWA3B	SPTLC1	SIGMAR1	MRE11	PNPLA6	ATP6AP2	NDUFS2	OPHN1	PIK3R5	CACNA1A	ELOVL4	FMR1	NOTCH2NLC	NGLY1	ARSA	QRICH1	SLC25A46	JPH3	CARS2	SLC30A10	MT-ND2	KCND3	GSS	ANO3	ATCAY	HIBCH	SLC6A17	PIK3CA	RNF113A	EPRS1	KCNC3	FAM126A	TK2	TMEM70	ERCC8	KCNJ10	NFASC	UFC1	VPS13A	MAOA	SPG11	AFG3L2	PTEN	PRICKLE1	ITM2B	SCYL1	RARS1	ATP13A2	UCHL1	SCN1B	PIK3CD	UROC1	POU4F1	ABCB7	ABHD12	GJB1	LMNB1	ERCC6	MFN2	FGF14	LEMD2	CAMTA1	VAPB	SETX	CACNA1G	DNAJC30	ATXN10	BSCL2	DNAJC19
HP_HEAD_TREMOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEAD_TREMOR	KIF1C	LAMA1	VPS13A	LMNB1	SPG11	AFG3L2	ALS2	SPTLC1	SIGMAR1	PLP1	SETX	EIF2AK2	STUB1	TRIM8	HIBCH	DNMT1	FGF14	GBA2	PIK3R5	NKX6-2	IFRD1	ANO3	NEFL	UCHL1	TMEM63A	SCP2	NOP56	CACNA1G	ITPR1	NOTCH2NLC	SPTBN1	PEX6	SH3TC2	CIZ1	FUS	GJC2	PPP2R2B
HP_FOCAL_AWARE_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_AWARE_SEIZURE	RELN	GABRG2	SUPT16H	SCN9A	FRRS1L	PLPBP	SLC13A5	DEPDC5	UNC93B1	SCN1A	GAL	NPRL3	TRAF3	TICAM1	LGI1	MICAL1	SCN1B	SCN2A	PCDH19	ALDH7A1	NPRL2	GABRA1	TBK1	TLR3	GRIN2A	CPA6
HP_CEREBELLAR_CYST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBELLAR_CYST	LAMA1	FKTN	OFD1	B3GALNT2	TMEM216	ARID2	EXOSC3	CDKN1C	KRAS	CDC42	CEP120	TBC1D24	EBP	KCNQ1OT1	C2CD3	DAG1	IGF2	TCTN2	DOCK6	AHDC1	TMEM231	RXYLT1	MAB21L1	VPS51	RAPSN	DYNC2H1	B9D1	CSPP1	TMEM237	SMARCA4	FKRP	SEMA3E	ARMC9	LARGE1	CPT2	MID1	ZSWIM6	PHGDH	POMT1	SOX4	NRAS	COL3A1	SMARCB1	CEP290	FGFR1	FAR1	SMARCC2	CRPPA	TSEN34	BUB1B	ATP6V1A	ALG3	WDR73	HYLS1	TSEN15	SMG9	WASHC5	ARID1A	SEPSECS	COL4A1	GMPPB	TMEM67	POLR3A	RPGRIP1L	DYNC2I1	POMGNT2	SOX11	PLG	GJB2	SMARCE1	ARID1B	CHD7	RPGRIP1	TSEN54	MKS1	LONP1	BUB3	POMT2	DHCR7	PIGN	CEP57	NPHP3	FTO	ATP6V1B2	HRAS	GPC3	B9D2	AFF3	ZIC1	ASXL1	POMGNT1	OPHN1	DPH1	KIAA0586	USP9X	TSEN2	ATP6V0A2	DPF2	DYNC2I2	GRM1	TMEM138	DOK7	TUBB	RNF113A	CCDC22	KIF7	SMARCD1	TCTN3	B4GALT1	POMK	EVC2	SLC18A3	TXNDC15	PMM2	TCTN1	SNX14	PIEZO2	EVC	FLVCR2	PPP1CB	DENND5A	GLI3	ATP6V1E1	NUP88	TMEM107	B4GAT1	BUB1	SLC35A2	PDHA1	KCNQ1	GPC4	WDR81	TRIP13	AP1S2	CC2D2A	MUSK	DPYSL5	GRIA3	IFT80	GJB6	MYOD1	BCOR	WDR35
HP_LEUKOENCEPHALOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEUKOENCEPHALOPATHY	EOGT	NDUFB3	FKRP	COA7	NDUFA1	NOTCH2NLC	NAXE	OPA1	CACNA1I	NDUFB9	COL4A1	NDUFAF5	RTTN	TBCK	TSEN54	HK1	ALG8	DPM2	HTRA1	DNM1L	AP4B1	CDC42	SEPSECS	CDH15	NDUFV1	SUMF1	L2HGDH	NFE2L2	KIF1A	HEPACAM	AIFM1	FOXRED1	CTBP1	TYROBP	MT-ND3	LARGE1	PSAP	SUCLG1	TYMP	CYP27A1	PAK1	ERCC3	LIG3	MTHFR	MPLKIP	GM2A	LAMB1	TRMT1	ODC1	ISCA2	HIKESHI	SDHA	ARHGAP31	NDUFS6	ERBB4	CSF1R	MYT1L	MLC1	LMX1B	CACNG2	NDUFAF1	GTF2E2	LAMA1	NDUFAF2	NDUFAF8	STRADA	EDEM3	FA2H	NDUFAF3	ATP13A2	DARS2	ACTA2	NDUFS1	CNTNAP2	RNU7-1	ARID2	MT-ND2	EIF2B2	AP5Z1	CA2	SDHAF1	CAMK2B	MED12L	DPM3	GRIN1	NDUFS8	MBD5	CNKSR2	ZMYND11	CIC	SHANK3	TET3	TRPM3	GALC	SCP2	AP4S1	DLL1	ASH1L	RAC1	NBEA	LYRM7	CUX1	KIRREL3	KARS1	SURF1	NOTCH3	NDUFS2	SELENOI	CTC1	MMACHC	VPS11	TCF4	CLCN2	NUBPL	NDUFB10	CHAMP1	DEAF1	GTF2H5	AMPD2	NOTCH1	STXBP1	DDHD2	PMPCB	TARS1	TMEM126B	AP4E1	PRNP	EPB41L1	GNB2	DEGS1	MEF2C	MARS2	TIMMDC1	LONP1	POMT1	ALDH18A1	ERCC2	NSD2	BRF1	HMGCL	ACTL6B	RFWD3	EIF2B1	POLG	EIF2B4	SAMHD1	CPLX1	FGFRL1	PLAA	AUH	NDUFS3	PRICKLE2	NDUFAF4	NDUFB11	USP7	PDHX	LIPT2	COA8	CAMK2A	TREX1	HIVEP2	NMNAT1	PC	ARSA	SNORD118	GMPPB	NDUFS4	CLN5	TREM2	EIF2B5	PRR12	PPP3CA	MORC2	NDUFS7	RPL10	GRIN2B	SET	DOCK6	EEF1A2	HIBCH	NRROS	FARSA	PUF60	RNF113A	SON	RRM2B	AARS2	COLGALT1	LMNB1	DYNC1H1	B3GALNT2	TMEM70	MT-TN	KDM5B	SPATA5L1	SETD1B	DARS1	CNP	GJC2	KCNQ5	WARS2	YME1L1	LETM1	PDHB	MRPS22	RPIA	SPG11	KIF5A	NDUFA11	CLTC	DOCK8	PDHA1	RAB11A	SSR4	DLL4	POMT2	CSNK2B	NDUFV2	TMEM222	NDUFA6	ABCD1	EARS2	AP4M1	BRSK2	RNASET2	MT-ND1	SYNGAP1	UBA1	TAOK1	CLCN4	EIF2B3	RBPJ	NDUFC2	CLN6	SUGCT	ACP5	OCRL
HP_MEMORY_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEMORY_IMPAIRMENT	IL12A-AS1	MT-ND6	IL12A	TREM2	PSEN2	YY1	ECM1	ZNF365	MAPT	STUB1	GRN	ABCA7	CP	ATXN3	TYROBP	CHMP2B	PDE8B	VCP	GSN	PRNP	GNE	BAP1	NIPA1	MT-TW	HLA-B	C9orf72	RNASEH1	ERAP1	TUBG1	MT-TH	SMARCE1	REEP2	HTT	NF2	JPH3	MEN1	MLH1	USP8	SLC20A2	MT-CO1	SPG7	TRAF7	UGT1A1	ADA2	SMO	MT-ND1	TREX1	APP	STAT4	FAR1	UBAC2	AKT1	EIF2B2	HLA-DQB1	ATXN1	PSEN1	MEFV	CDH23	RPS20	DNMT1	POLG	PDGFB	MT-TF	TOMM40	SEMA4A	NOTCH3	SMARCB1	AMACR	MMACHC	NF1	MT-CO3	PRKACA	SUFU	EPCAM	ARMC5	CCR1	MT-CO2	ATN1	PMS2	MT-TL1	GNAS	SQSTM1	TMEM106B	TERT	TIA1	PIK3CA	MOG	SORL1	CTSH	PAH	VAMP1	MYD88	EIF2B1	EIF2B4	PRKAR1B	HMBS	CYLD	MLH3	TLR4	FMR1	TGFBR2	IL10	SIM1	MT-TS2	XPR1	EIF2B5	MSH2	KRAS	PMS1	SLC25A13	CSF1R	NIPA2	MYORG	APOE	ACSF3	TWNK	MT-ND5	FGF14	PRKAR1A	SLC2A3	ABCD1	PDE11A	AFG3L2	IFNGR1	ARSA	MSH6	GRIN2A	C4A	TNFSF4	P2RY11	BMPR1A	SPG11	HCRT	RRM2B	FAN1	KLRC4	PSAP	PDGFRB	ALDH18A1	CAMTA1	IL23R	EIF2B3	MT-ND4	PRKCG	HLA-DRB1	FAS	MT-TQ	SPAST
HP_DIFFICULTY_WALKING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFICULTY_WALKING	SACS	TRAPPC11	TPM2	MYO9A	ALS2	AGRN	BIN1	MYO1H	GIPC1	STUB1	CHCHD10	CAPN3	SETX	SNAP25	FBXO38	TIA1	PMP22	FA2H	WASHC5	AP4B1	SQSTM1	SGCB	GPT2	ALG2	NOP56	RNU12	SCN3A	WARS1	RAB11B	WDR48	GABRB2	NTRK2	LRP12	SZT2	KBTBD13	BAP1	SLC7A6OS	SLC25A1	MSTO1	NEB	KLHL9	SMARCE1	ELOVL5	NUS1	HTT	NF2	MYF6	GABRA2	CPT1C	DLAT	RSPRY1	EIF2AK3	REEP1	ATP13A2	SCN8A	KPNA3	TRAF7	LRP4	SMO	MTMR14	EIF2S3	ARL6IP1	ASAH1	VDR	COL6A2	FTL	TAF1	MT-CO3	NTRK1	ATP1A3	POMT1	CDK19	RNASEH2C	NACC1	YWHAG	HPCA	ALG14	AKT1	IFIH1	SBF2	PLP1	FDX2	ERCC1	GLE1	ARV1	TTBK2	SYT2	GOSR2	HK1	RNASEH2B	SH3TC2	MFN2	PUS3	FLNC	SORD	ACTA1	CHAT	FHL1	SLC18A3	GFPT1	STRADA	ALAD	ATP1A2	RTN2	DARS2	CACNA1A	KCNB1	AP4S1	HCN1	KY	NDUFS8	C19orf12	AOPEP	FKRP	CRYAB	PLEKHG5	SMARCB1	SYNJ1	DDX6	NPR3	TBC1D23	NOTCH2NLC	GAN	FUS	NUBPL	GRID2	SPG21	TPP1	MTRFR	HERC1	SUFU	UBA5	MED25	SLC30A9	DNM1L	AP4E1	CACNA1B	BVES	DES	GJC2	GYG1	TERT	HSPB1	PDGFB	ERCC4	PEX6	TPM3	NKX6-2	GRIN2D	NKX2-1	CIZ1	DYM	TGM6	SAMHD1	PIK3CA	MPZ	VAMP1	WWOX	DYSF	COL12A1	CRPPA	SPTLC1	DNM2	SYNGAP1	SIGMAR1	PI4KA	IBA57	CYP27B1	ADAR	TMEM251	ADCY5	KCND3	CELF2	SLC1A2	EEF1A2	FLRT1	ERCC8	KCNA2	FKTN	VCP	CYP2R1	AARS1	MORC2	MYPN	UBAP1	TTN	PNPLA2	PPP3CA	SLC5A7	ATP6V1A	SLC30A10	MYH7	GMPPB	ACTL6B	TRAK1	GPAA1	ORAI1	TCAP	KLHL41	GABRG2	ERLIN1	TRPV4	POLG2	MICU1	ABHD5	KCNC3	USP9X	COL13A1	GBA2	PDK3	COL6A3	SLC25A19	ACOX1	DNM1	DPAGT1	BICD2	DHTKD1	FGF14	SLC2A3	BSCL2	CDKL5	GALC	SPG11	CYFIP2	SLC34A3	POMT2	ARSA	DMD	ATP7B	CAPN1	PMP2	WARS2	SLC13A5	DNA2	COASY	MATR3	FGF12	PRX	GABRA5	RARS1	HACE1	MYOT	LPIN1	ANO5	CCN6	KCNJ10	INTS1	B4GALNT1	FGF13	MT-CO1	PKP1	SGCD	MATN3	MECP2	HSPB3	CNKSR2	PARS2	FUZ	PGAP1	MARCHF6	TK2	NECAP1	ABCD1	SURF1	CLTC	PSAP	ERCC6	COL6A1	AP4M1	DHDDS	DAG1	GJB1	MT-ATP6	RNASEH2A	ARSI	KLC2	TREX1	CDK8	RYR1	AP3B2	MIEF2	PYCR2	SPART	DDHD1	DALRD3
HP_WRITER_S_CRAMP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WRITER_S_CRAMP	GNA11	TOR1A	VPS16	SGCE	DRD2	TBC1D24	PRRT2	AOPEP	KCNA1	FTL	THAP1	KCTD17	COL6A3	GCH1	CASR	HINT1	CIZ1	TBP
HP_DYSPHASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSPHASIA	COMT	KRAS	TREM2	CACNA1A	PSEN1	COL1A1	PLEC	FGFR1	HIRA	FLCN	TMEM106B	ATRX	RAI1	VCP	COL1A2	EHMT1	POLR1D	GRN	CKAP2L	SMARCA2	L2HGDH	TBX1	ACTB	CFHR1	CHMP2B	TCF4	ADAMTS2	OCRL	ACTG1	POLR1C	ATP1A2	MAPT	HCCS	NSDHL	C9orf72	COX7B	AMER1	DNM1L	SCN1A	SQSTM1	NDUFB11	ARVCF	SEC24C	GRIN2A	RREB1	POLR1B	PRRT2	ADAMTSL2	GP1BB	UFD1	STS	CFH	UBTF	TCOF1	CFHR3	JMJD1C
HP_FREQUENT_FALLS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FREQUENT_FALLS	SNCA	CRPPA	NEB	PYROXD1	MT-TE	SPTLC1	PI4KA	DAB1	MAPT	MRE11	ATP6AP2	PMP22	FA2H	RRM2B	PIK3R5	PANK2	COQ2	GRM1	ALG2	SLC19A3	RNU12	GDAP2	SDHB	FKTN	VCP	HADHA	SDHA	ARSA	TTN	FKRP	MYPN	NUP62	SGCA	KIF1C	CLN8	RPL10	HADHB	ATP2B3	COL12A1	TWNK	GBA	GMPPB	ATL1	PDE10A	MT-ATP6	ADAR	COLQ	MICU1	LRRK2	CHP1	ASAH1	TAF1	POLG	DNAJC13	COL6A1	GALC	DPAGT1	HINT1	ALG14	SLC25A1	SCYL1	ARHGEF2	ARG1	BSCL2	PSAP	TPM3	LAMB2	VPS13D	NOL3	POMT1	GIGYF2	PLEC	GRIN2A	PMP2	GFPT1	SGCG	ADSS1	VWA1	COL6A3	SCO2	STIM1	COX20	FHL1	C19orf12	EIF4G1	VPS35	B4GALNT1	SH3TC2	GLRA1	GDAP1	GJB1	FIG4	SLC25A4	GPHN	POLG2	MFN2	SDHAF1	PRNP	SDHD	CWF19L1	MTPAP	NEFH	COL6A2	DYM	ACTA1	MPZ	TPM2	DYNC1H1
HP_SLEEP_DISTURBANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLEEP_DISTURBANCE	RERE	TNPO3	FKTN	NTNG2	UNC80	MECP2	DCPS	MYO9A	YY1	AGRN	ZMIZ1	CACNA1I	NCDN	PRNP	FLCN	RTTN	TRMT1	NDN	SLC2A1	SHH	PARK7	AGA	CDH15	GTF2I	SNRPN	SCN2A	NCF1	LARP7	TGIF1	ATXN3	DOCK3	WDR45	TBP	SUCLG1	MED27	EIF4H	HDAC4	AHDC1	ZNF365	RUNX2	ACAT1	WFS1	TRIO	IDUA	BAP1	SATB2	NHLRC1	SLC25A1	CHRNA2	LIAS	SMARCE1	PRMT7	HTT	TWIST1	CDON	FOXH1	ERBB4	MEN1	IL12A	MYT1L	PYGL	FGF8	TRAF3	FGFR1	NSDHL	CACNG2	NEFL	COLQ	TRAF7	ACTL6B	KCNT1	GPR101	EDN1	ATG7	FOXE1	CLCNKB	EMC10	HESX1	SLC18A2	DPYSL5	C12orf4	GNAO1	PHKG2	TDGF1	RNU7-1	NADK2	SMC3	CC2D1A	PTPN23	EHMT1	DPYS	TRIP12	WAC	ITGA7	CA2	TSC1	NALCN	NAGLU	IL12RB1	NAA10	CAMK2B	FMN2	SNCA	UNC93B1	CTNNB1	DNMT1	MAPK8IP3	POU3F3	KCNMA1	WDR4	ZMYND11	NTNG1	SHANK3	ZEB2	STIL	WDR73	BCL7B	SKI	TRPM3	DLL1	NDP	ASH1L	TSHR	SIX3	SPTBN1	ASPA	HRAS	FBXW11	WDFY3	SGSH	ALMS1	TCF20	RAI1	MKRN3	BPTF	TFAP2B	HNMT	CHAMP1	ATP10A	PTCH1	DNAJC6	DEAF1	MAGEL2	MAPT	KCNA1	ZIC2	PODXL	SMC1A	TELO2	POGZ	NKX2-1	MAP3K20	TSEN54	SYT1	CPOX	TUSC3	BCORL1	PROKR2	DISP1	RLIM	HDC	LMAN2L	PER3	TERT	METTL27	NPAP1	PDGFB	ATXN7	GALNT2	DHCR7	CREBBP	MOG	ACTA1	CTSH	NSUN2	TLR3	CCDC32	LRRK2	POU2AF1	PDE2A	OCA2	PIK3CA	EPG5	GRIN1	FBXO7	ARNT2	IDS	DMPK	SLC22A5	PRKN	ASXL1	CHD8	RAD21	POLR2A	CISD2	CLIP1	PRICKLE2	VPS4A	ELN	CNOT1	GLUD2	SLC12A2	FBP1	RFC2	WASHC4	DHX30	NGLY1	PGAP1	PRPS1	CAMK2A	VPS13C	POMT1	SATB1	ATAD3A	PTS	UBR7	KMT2E	CORIN	PRR12	PPP3CA	ATAD1	TPM2	NKX2-5	SLC25A13	BICRA	FKBP6	TNRC6B	DOK7	BRD4	UBE3A	PPT1	SLC5A7	GRIA4	FLT1	HPDL	COQ2	IRF5	GBA	SPIB	APOE	SMARCC2	SET	HIBCH	DUOX2	NAA20	CABP4	FGFR3	TSC2	TECR	GAS1	FBXO31	MFSD8	SIK1	PER2	CDKL5	COL13A1	BUD23	TBC1D20	DYNC1H1	LRPPRC	ANK3	DNAJC30	LTBP3	GRM7	NDST1	GLRA1	TCF7L2	KDM5B	PNKP	PUS7	DMXL2	SLC2A3	VPS13A	SETD1B	NR4A2	PRSS12	FLII	GNE	NODAL	TDP2	SYNCRIP	CASK	ABCB11	SCN1B	GIGYF2	VPS37D	GRIN2A	DCTN1	KIF11	FXR1	DNA2	EP300	AGO2	TNFSF4	SLC26A4	NUP88	METTL23	ST3GAL3	HACD1	STUB1	TCF4	CLTC	HCRT	ERCC8	EIF4G1	GNAI3	RAB11A	RNF2	TFE3	SNORD115-1	TBC1D24	LRRC32	EDC3	MED23	CSNK2B	ATP8B1	ASXL3	SETD5	CNOT3	ERCC6	TAF1	HNRNPK	SEPTIN9	GABBR2	KAT8	CEP57	SETD1A	SNORD116-1	AFF4	RPS6KA3	SRPX2	MYOD1	SARDH	FGFR2	GATAD2B	GNPTAB	MBD5	KAT5	AIFM1	MLXIPL	SUPT16H	HDAC8	TSPYL1	PGAP3	NEUROD2	IRF4	MED25	KDM4B	AIP	PIGC	SEPSECS	HLA-DQB1	TICAM1	ZC3H14	SLC6A5	KIF1A	CTCF	PSMD12	MED13	CTSK	STAG2	C2CD3	PINK1	LIMK1	CLCN3	GSN	MMEL1	NR1H4	TRAPPC9	GCH1	TRPV4	SARS1	VPS51	RAPSN	NEFH	SPOP	TTI2	NF2	FKRP	ARCN1	GLRB	CERT1	TPM3	NEXMIF	USP7	GLI2	SNAP25	SMO	SNCAIP	KAT6A	HUWE1	DNAJC13	EML1	HMGCL	DDB1	AKT1	AP3B2	TANC2	PIGT	IQSEC1	NONO	DKK1	SYT2	SLC12A3	LAMB2	DDX6	NACC1	MED12L	BCAS3	CHAT	MADD	TSEN34	PIGQ	CIC	EPM2A	FRRS1L	PALS1	BMP2	TSEN15	PAX8	NBEA	CUX1	KIRREL3	STOX1	TUBB3	SMARCB1	DDC	ACTL6A	GPHN	MBOAT7	SOX3	PLCB4	ARX	GUSB	KIF15	NF1	GJB1	SUFU	FARS2	PHKA2	HGSNAT	CRBN	MYL2	TTC5	EPB41L1	GNB2	BSCL2	LINS1	POMT2	TBL2	ERCC4	ALDH4A1	UBE4A	EZR	PWAR1	RIC1	HS2ST1	SPR	ANKRD17	EXOC2	ATXN8OS	AFF3	RSRC1	CSNK1D	TRIM8	SRCAP	ADNP	TNIK	GNS	MTRR	SOX2	HMBS	ABCB4	PRPH	MT-TT	DYRK1A	NIPBL	NFIX	CCDC47	TMEM270	VAMP1	GABRG2	TSEN2	COA8	HIVEP2	CLN5	ASCL1	NAGS	CRH	UFSP2	SIM1	STX1A	GRIN2B	EEF1A2	BAZ1B	COL3A1	PUF60	FMR1	SYNGAP1	SLC18A3	DEPDC5	ARL3	LMBRD2	SOD1	SLC9A6	SIN3A	CHRNA4	P4HTM	SHROOM4	SELENON	SLC45A1	GTF2IRD2	B3GALNT2	SH3BP2	SVBP	PCGF2	ATXN2	HLA-DRB1	ADH1C	GRIK2	TWNK	HTRA2	HERC2	KCNQ5	DPH1	CRADD	BRAF	SPART	HEPHL1	P2RY11	ALKBH8	PWRN1	RET	AIMP1	VPS35	DOCK8	ATN1	SYNJ1	DBH	WASF1	TNFSF15	SLC35C1	ZMYM2	OTX2	MAN1B1	CHRNB2	FOXG1	MUSK	CARS1	BRSK2	PSEN2	UCHL1	MFN2	GRIA3	CRY1	TAOK1	IQSEC2	PIGP	CLIP2	TRAPPC4	SLC25A22	TBK1	GTF2IRD1	NEMF	ATXN10	AP1G1	FTL	JARID2	PHOX2B	SLITRK1	LARGE1
HP_PSYCHOMOTOR_DETERIORATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSYCHOMOTOR_DETERIORATION	ATP6V1E1	CLN3	GALC	COG2	RNASEH1	PPT1	GALK1	PLP1	PSAP	KMT2A	RRM2B	HEXA	ATP6V0A2	PLA2G6	ATP6V1A
HP_SHUFFLING_GAIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHUFFLING_GAIT	ATXN8OS	FBXO7	MECP2	KDM5C	NR4A2	PRKAR1B	SNCA	MAPT	POLG	CSF1R	ATXN2	NAA10	ADH1C	ZMPSTE24	GBA	GIGYF2	RAB39B	TRPV4	DNAJC6	MT-TT	DCTN1	COL2A1	GLUD2	LRRK2	SLC18A2	TIMM8A	SNCAIP	TAF1	TBP	C19orf12	EIF4G1	VPS35	DNAJC13	TK2	L1CAM	LMNA	SGCD	PODXL	SYNJ1
HP_ABNORMAL_BRAINSTEM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BRAINSTEM_MORPHOLOGY	RERE	CIT	SACS	LAMA1	NDUFB3	FKRP	NDUFA1	PTCH1	FKTN	OPA1	DCC	NDUFB9	TSEN54	NDUFAF5	RTTN	STUB1	MACF1	CACNA1A	DPM1	VLDLR	DNM1L	INPP5E	SHH	FA2H	DOCK7	NDUFV1	CDON	SIX3	TBCD	TSEN2	SCO2	AIFM1	TGIF1	FOXRED1	RARS2	ZNHIT3	SURF1	STAG2	KRIT1	MT-ND3	LARGE1	TUBB2A	CEP290	BAP1	WNT1	LAMB1	GAS1	MAB21L1	COASY	TMEM216	CCDC88C	VPS51	FH	SMARCE1	NF2	NDUFS6	FOXH1	DLL1	THSD1	CYP27A1	FGF8	FGFR1	ZIC2	NDUFAF1	TRAF7	GLI2	SMO	NDUFAF2	NDUFAF8	COG5	GABRB3	LAMA2	EXOC7	IDH1	NDUFAF3	PCLO	EN1	MINPP1	NDUFS1	CTNNA2	AKT1	TDGF1	MT-ND2	CLP1	CHMP1A	DKK1	ATXN1	COL3A1	NDUFS8	PPP1R15B	ATXN8OS	CRPPA	DNMT1	TSEN34	SPTAN1	SLC5A6	ALG3	PPP2R1A	STIL	WDR73	TSEN15	MAST1	DNAJC3	CLCN3	SMC1A	RAC1	SEPSECS	PIGS	NODAL	TUBB3	NDUFS2	SMARCB1	GMPPB	MYMK	TNFRSF11A	PMM2	NDUFB10	MTRFR	SLC25A46	SUFU	NDE1	BRF1	NDUFB8	TMEM126B	POGZ	NAGA	NPHP1	ATXN2	DEGS1	CSPP1	FLI1	GTPBP3	DISP1	TIMMDC1	TERT	POMT1	POMT2	PDGFB	DYRK1A	RPGRIP1L	ASNS	FCSK	PIK3CA	EXOC2	EPG5	MYH3	AFF3	ETHE1	EXOSC1	TUBB	DYNC1I2	ZIC1	CHD2	ADGRG1	MTRR	POMGNT1	TMX2	NDUFS3	NDUFAF4	TGFBR3	TRRAP	VPS4A	ASXL1	GPHN	NDUFB11	KIAA0586	PTEN	PPP2CA	SCN1A	APC2	PDHX	RANBP2	ENG	TMTC3	NDUFS4	FGFR3	VRK1	NDUFS7	KIFBP	TMEM67	SMPD4	CASK	KIAA1109	CDC40	AHCY	TOE1	POMK	SLC19A3	PDCD10	ARL3	USP9X	B3GALNT2	UBE2A	SYNE1	GALC	SNX14	PIEZO2	ARHGEF2	FLVCR2	TUBA1A	TWNK	MFSD2A	TRAPPC12	WARS2	GFM2	TUBB2B	KIF1A	PDHB	TRMT10A	NDUFA11	CUX2	SMARCA2	SLC35A2	RORA	ANGPTL6	ROBO3	DYNC1H1	PAFAH1B1	B4GAT1	FUZ	NDUFV2	NDUFA6	LMNB1	PIGA	DAG1	ABCD1	PPIL1	SETX	COG8	DNM1	MT-ND1	AHI1	CCM2	FMR1	MAPK10	MDH1	CACNA1G	RELN	TRAPPC6B	FARS2	CEP55	DNAJC19	NUBPL	TBP	NFIX	PYCR2	TUBA8
HP_HYPOPLASIA_OF_THE_BRAINSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_BRAINSTEM	MYH3	CIT	CHMP1A	TUBB3	AFF3	FKTN	TUBB	FKRP	DYNC1I2	FLVCR2	TSEN54	ADGRG1	TUBA1A	COL3A1	MTRR	POMGNT1	MACF1	TMX2	MFSD2A	PPP1R15B	CRPPA	TSEN34	VLDLR	INPP5E	WARS2	DYRK1A	ASXL1	PDHB	LAMB1	WDR73	TSEN15	PTEN	PPP2CA	MAST1	TSEN2	APC2	POMT2	RAC1	TRMT10A	SEPSECS	LARGE1	TMTC3	POMT1	GMPPB	TUBB2A	MYMK	DYNC1H1	PAFAH1B1	B4GAT1	COASY	TMEM216	KIFBP	NDE1	FH	SMPD4	PPIL1	CASK	KIAA1109	CDC40	POMK	TOE1	USP9X	BRF1	CSPP1	EXOC7	PCLO	CEP55	EN1	CTNNA2	RPGRIP1L	NFIX	FCSK	PYCR2	TUBA8	PIEZO2	MINPP1	EXOC2
HP_ABNORMAL_LOWER_MOTOR_NEURON_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LOWER_MOTOR_NEURON_MORPHOLOGY	TRPM7	TBK1	SPG11	VCP	SQSTM1	ALS2	PSEN1	SETX	TARDBP	C9orf72	FUS	TMEM106B	C19orf12	MATR3	VPS41	CHCHD10	CHMP2B	SIGMAR1	ASAH1	PLEKHG5	TREM2	GRN	ATXN3	DCTN1	VPS13D	MAPT
HP_VISUAL_HALLUCINATIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VISUAL_HALLUCINATIONS	NHLRC1	FBXO7	SNCA	CACNA1A	DNAJC5	PUS3	DEPDC5	GBA	GIGYF2	NPRL3	ATP13A2	EPM2A	LGI1	LRRK2	SNCB	NPRL2	CLN6	EIF4G1	VPS35	DNAJC13	FIG4	RELN
HP_POOR_COORDINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POOR_COORDINATION	APC2	EP300	MTR	ELN	HSD17B10	LZTFL1	TUBG1	EED	MLXIPL	SLC25A15	NIPA2	YWHAG	TXN2	NSD1	CARS1	CCDC28B	ERCC4	SETD2	ARL6	KCND3	SLC6A8	SYNGAP1	AFF2	CREBBP	RNF168	KCNA1	HUWE1	TANGO2	TCF20	TBC1D23	BBS1	PDE2A	SIM1	NIPA1
HP_LOSS_OF_SPEECH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOSS_OF_SPEECH	SPG7	PSAP	ERLIN2	GALC	RNASEH2B	TREM2	ARSA	TMEM106B	ABCD1	GRIN2A	ADAR	GRN	PSEN1	NTNG1	IRF2BPL	NPC1	SLC19A3	VCP	CHMP2B	GM2A	C9orf72	CLN8	TPK1	PPT1	HGSNAT	SMC1A	NAXD	SLC30A9	MAPT	SQSTM1	MAN2B1	ALDH18A1	GABBR2	AARS2	NPC2	CDKL5	RNASEH2A	TREX1	RNASEH2C	BSCL2	SARDH	ALS2	IFIH1	MECP2	SAMHD1
HP_NORMAL_INTERICTAL_EEG	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NORMAL_INTERICTAL_EEG	PRRT2	SCN2A	KCNQ2	SCN8A	PDE2A	KCNQ3
HP_DIMINISHED_MOVEMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIMINISHED_MOVEMENT	NEB	SLC2A3	LMOD3	GFM1	SNCA	FLVCR2	TPM3	ERBB3	TH	MAPT	GIGYF2	ACTA1	DNAJC6	CFL2	FXR1	RRM2B	KLHL41	WWOX	LAMP2	AIFM1	PET117	CP	NUP88	GBA	MRPS16	KARS1	EIF4G1	VPS35	DDC	TOR1A	CNTN1	PPP2R2B	GLRA1	MPZ	SLC52A2	SLC6A3	ALG11	SLC25A4	KLHL40	PAM16	DOK7	GPHN	RAPSN	MUSK	TWNK	TPM2	POLG2	TSPOAP1	HTT	PDE8B	TMEM240	CHRNG	CHRNA1	DCTN1	ATP13A2	LRRK2	PRNP	POLG	PANK2	LAMA2	DNAJC13	SLC18A3	VPS13C	MTM1	FGF14	DPAGT1	PODXL	MYOD1	DPM2	CHRND	SYNJ1
HP_HYPOKINESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOKINESIA	NEB	SLC2A3	LMOD3	GFM1	TPM3	TH	ACTA1	CFL2	RRM2B	KLHL41	WWOX	LAMP2	AIFM1	PET117	NUP88	GBA	MRPS16	PPP2R2B	GLRA1	MPZ	SLC52A2	SLC6A3	ALG11	SLC25A4	KLHL40	PAM16	DOK7	GPHN	RAPSN	MUSK	TWNK	TPM2	POLG2	TSPOAP1	HTT	PDE8B	ATP13A2	PRNP	POLG	LAMA2	SLC18A3	MTM1	MYOD1	DPM2	SNCA
HP_DEVELOPMENTAL_REGRESSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVELOPMENTAL_REGRESSION	IL12A-AS1	SLC12A5	NAXE	IL12A	PIGA	SEMA6B	TBCK	POLR3K	SYNGAP1	MT-ND3	GTF2I	L2HGDH	TBCD	SCN2A	NCF1	MRPS34	PLA2G6	SCN3A	TRAPPC11	GABRA1	EIF4H	NTRK2	SZT2	WFS1	CNPY3	NDUFS7	HLA-B	SCN9A	ERAP1	MTRFR	MT-ATP6	PEX7	PEX14	ADA2	SIK1	ST3GAL3	SLC29A3	RNASEH2C	STAT4	YWHAG	AAAS	SERAC1	ATP7A	FOXG1	GNAO1	IFIH1	ERLIN2	ADGRV1	ARV1	PSAP	GLRX5	RHOBTB2	SGPL1	RPS20	NTNG1	ATP1A2	SDHD	CLN5	IRF2BPL	BCL7B	CACNA1A	GABRG2	TRAPPC2L	SCN1A	KCNB1	NDP	PEX6	FRRS1L	LYRM7	IBA57	SPTBN1	KARS1	PEX1	SYNJ1	CACNA1B	MMACHC	HACE1	UBA5	SLC39A14	KCNA1	EPCAM	SMC1A	NAXD	DNM1L	PLP1	PTCD3	NAGA	PCDH19	TCIRG1	GABRD	IQSEC2	NRXN1	GRIN2A	METTL27	GABRB2	TANGO2	MT-TW	NDUFAF3	GRIN2D	PEX11B	PDE2A	MT-ND1	GRIN1	EIF2B1	EIF2B4	ETHE1	IDS	HEXB	GFM2	CISD2	ADAR	ELN	SCN8A	MLH3	TLR4	SLC1A2	EEF1A2	TGFBR2	RFC2	PEX13	KCNA2	MECP2	NGLY1	ARSA	AARS1	NUP214	POLG	SATB1	FOLR1	EIF2B5	MSH2	KRAS	CARS2	BICRA	FKBP6	CLPB	GCDH	ISCA1	IRX5	ERCC5	KCTD7	ACTL6B	MT-TK	NTNG2	ROGDI	PEX16	SON	HCN1	ATP5MK	CDKL5	BUD23	PPP3CA	ZBTB20	LRPPRC	DNM1	DNAJC30	MBTPS2	GRM7	GUF1	WDR45	PNKP	MFF	DMXL2	TNFRSF11A	GALC	DNMT3A	CYFIP2	SPTAN1	CNP	SLC25A42	HNRNPH2	IFNGR1	CASK	SCN1B	VPS37D	POC1A	SLC13A5	PEX26	AIFM1	C4A	GABRA5	BMPR1A	PIGT	MED27	FGF12	TFE3	SDHB	FAN1	MT-ND6	TBC1D24	CNKSR2	PARS2	NECAP1	ACOX1	CLTC	COG8	TUFM	SDHAF1	NDUFAF6	COQ8A	IL23R	PHACTR1	GABBR2	GLA	RNASEH2A	COX4I1	WASF1	PDSS2	AMN	PHYH	GNB1	NBEA	AP3B2	CACNA1E	TTPA	PYCR2	POLR3GL	CAD	MLXIPL	HSD17B10	NEUROD2	IRF4	ASAH1	PET117	BOLA3	SCO2	TRAK1	SLC19A3	SURF1	SMARCAL1	KCNT2	SDHA	LIMK1	GLB1	NUP62	HSD17B4	GM2A	FGF13	UGP2	NUS1	GABRA2	MLH1	PEX5	SMPD1	TBCE	HPDL	ATP1A3	CDK19	UBAC2	UBTF	TPP1	CLN8	ZNF699	TMLHE	CTNNB1	GABRB1	EIF2B2	DEAF1	NDUFV1	RNASEH2B	XPA	MEFV	TREM2	NACC1	FAR1	PIGQ	ST3GAL5	PEX19	FDXR	SEMA4A	SELENOI	TANC2	PLCB1	ARX	FARS2	AGA	CCR1	POLR3A	NDUFB8	PMPCB	SLC30A9	COQ2	PMS2	PCYT2	PEX2	NDUFS1	ERCC4	TBL2	PIK3CA	ACER3	XPC	ADPRS	SAMHD1	WWOX	MT-TL1	TBC1D2B	TRIM8	ADNP	HTT	DDB2	CELF2	TMEM270	RANBP2	COA8	KCNT1	IL10	NDUFV2	CHD2	ARHGEF9	SUMF1	PMS1	CIC	STX1A	PAFAH1B1	NDUFS4	ATP6V1A	GRIN2B	PIGY	COASY	STXBP1	AHCY	BAZ1B	ADH5	NEU1	TYROBP	EPRS1	CUBN	SLC9A6	MT-TV	BSCL2	SIN3A	GTF2IRD2	NDUFS2	GMPPA	MSH6	MT-ND2	TRAPPC12	HEPHL1	ERCC3	MT-ND4	PEX10	IPO8	AGTPBP1	KLRC4	TK2	STX1B	ASPA	GFAP	PEX12	EARS2	DHDDS	FITM2	MT-ND5	ERCC2	EIF2B3	VAC14	PIGP	CLIP2	HIBCH	NDUFC2	SLC25A22	FAS	GTF2IRD1	TREX1	DNAJC19	NARS2	PEX3	DALRD3
HP_HAND_TREMOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAND_TREMOR	DRD3	MARS1	CNTN2	SMN1	GCK	ABCB6	ERLIN2	SAMD12	SPTLC1	MARCHF6	STUB1	PDK3	ANO3	RAB3GAP2	MFN2	TSHR	NEFL	CTNND2	SLC6A17	GJB1	TFG	NOP56	ADRA2B	ZFYVE26	TAF1	C19orf12	YEATS2	TOR1A	FGF14	ZFR	SMN2
HP_FASCICULATIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FASCICULATIONS	ERGIC1	HEXB	TREM2	SPTLC1	CHCHD10	EXOSC3	PRPH	FBXO38	GRN	TARDBP	ELOVL4	SCN4A	TBCD	SLC6A5	PSAP	ATXN3	TFG	CEP126	NOP56	CHMP2B	RYR1	VCP	HINT1	ATXN1	MORC2	JAG1	VRK1	CCNF	SLC52A2	PNPLA2	SYT2	BICD2	KIF1C	ATAD1	C9orf72	SMN1	GLA	TBK1	HNRNPA2B1	NDUFS4	VAPB	NEFH	MAPT	KCNK9	FUS	SOD1	NEFL	GLRB	LRSAM1	ASAH1	ANO10	AR	SYNE1	HSPB1	ATP1A2	HNRNPA1	GLRA1	VPS13D	MINPP1	OPTN	SMN2	ATXN2	SQSTM1	SH3TC2	TMEM106B	UBA1	DCTN1	FXR1	VWA1	PSEN1	AIFM1	UCHL1	SCO2	SLC25A21	GPHN	PFN1	AGTPBP1	EXOSC9	RMND1	CPLANE1	CACNA1A	TSPYL1	SPG11	SCN1A	TOE1	VPS41	PRRT2	SLC52A3	ADPRS
HP_APHASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APHASIA	MT-ND6	NTNG2	COMT	SRCAP	TREM2	PSEN2	CACNA1A	ZMIZ1	COL1A1	PSEN1	PLEC	FGFR1	MAPT	FLCN	TRMT1	VCP	COL1A2	EHMT1	SATB1	GRN	ABCA7	KDM4B	CKAP2L	SMARCA2	CYLD	LGI1	L2HGDH	TBX1	ACTB	CFHR1	SLC12A2	PSMD12	MED13	CHMP2B	DOCK3	SMARCAL1	NPPA	NPRL2	MED27	DEPDC5	MT-TS2	ACTG1	CLCN3	HTT	UBR7	KMT2E	POLR1C	HCCS	MT-TW	C9orf72	HNRNPA2B1	GRIA4	AMER1	MT-TH	HPDL	FA2H	MT-CO1	ARVCF	ACTL6B	ADA2	TNRC6B	POLR1B	ADAMTSL2	MT-ND1	MYT1L	UFD1	EMC10	MT-ND5	TREX1	L1CAM	LMBRD2	APP	NF2	DPYSL5	UBTF	ATP1A2	TCOF1	HNRNPA1	CFHR3	TCF7L2	TANC2	JMJD1C	RELN	PUS7	PTPN23	TRIP12	HLA-DQB1	KRAS	FRRS1L	SVBP	DDX6	SYNCRIP	HIRA	BCAS3	TMEM106B	ATRX	GRIN2A	RAI1	MADD	MAPK8IP3	SCN5A	POLR1D	KCNMA1	PALS1	MT-TF	AGO2	TOMM40	TCF4	ADAMTS2	OCRL	NOTCH3	FBXW11	WDFY3	RNF2	WASF1	ACTL6A	PRNP	BPTF	NTNG1	TCF20	MT-CO3	NSDHL	COX7B	SPTBN1	MT-CO2	CNOT3	DNM1L	PLP1	HUWE1	NPRL3	BCORL1	RLIM	SCN1A	MT-TL1	SQSTM1	NDUFB11	SEC24C	RREB1	GJB1	KAT8	TIA1	SETD1A	PRRT2	MT-ND4	GP1BB	SORL1	TRAPPC4	CCDC32	STS	MT-TQ	CFH	JARID2	HS2ST1	ANKRD17
HP_INFECTIOUS_ENCEPHALITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFECTIOUS_ENCEPHALITIS	TLR3	CIITA	STX11	CD27	TMEM70	IL12A-AS1	IL12A	IFNGR1	MEFV	IRF4	DBR1	ATRX	SNORA31	RFXANK	RFXAP	BTK	C4A	TLR4	LBR	STAT1	IKBKG	IL10	UNC93B1	RFX5	L2HGDH	STXBP2	KLRC4	HLA-B	BCL10	CCR1	ERAP1	UNC13D	TBK1	NCKAP1L	HYOU1	XIAP	IL23R	FAS	PRF1	STAT4	TICAM1	UBAC2	IRF3	SH2D1A	CLTRN	SLC6A19
HP_FOCAL_IMPAIRED_AWARENESS_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_IMPAIRED_AWARENESS_SEIZURE	TSC1	APC2	SCN8A	TGFB1	GABRG2	SUPT16H	SCN1A	CACNA1I	VPS35L	TRIM8	TSC2	CEP85L	PRICKLE2	KCNQ3	OPHN1	CDH15	TICAM1	TBC1D24	KIF1A	PRRT2	PCDH19	NPRL2	GABRA1	CAMK2A	HIVEP2	CDH2	FIG4	ARHGEF9	CPA6	NHLRC1	PPP3CA	FGF13	GAMT	CLN8	GRIK2	SCN9A	PAFAH1B1	KCNB1	GRIN2B	SET	EEF1A2	ERBB4	MYT1L	TRAF3	CACNG2	ACSF3	HCN1	STRADA	DYNC1H1	DOCK7	PDE2A	NSD1	KDM5B	RELN	ADGRV1	SCN1B	SETD1B	FRRS1L	CAMK2B	CRIPT	PNPLA8	MED12L	MTOR	GRIN1	SETD2	UNC93B1	GRIN2A	KCNQ5	MBD5	GAL	ZMYND11	CIC	EPM2A	CACNA1D	TRPM3	DLL1	VPS11	SCN2A	ASH1L	NBEA	CUX1	KIRREL3	CLTC	DOCK8	RAB11A	FMN2	TCF4	LGI1	CHAMP1	CSNK2B	AP2M1	DEAF1	ZNFX1	STX1B	NUS1	DNM1L	POGZ	DEPDC5	KCNQ2	EPB41L1	GNB2	BRSK2	SYNGAP1	GABRD	NPRL3	TAOK1	CLCN4	MICAL1	TANGO2	TBK1	TLR3	GNB1	ATXN10	ATP6V1B2
HP_PARAPARESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARAPARESIS	TBK1	ARG1	SPG7	GALC	ABCD1	MTPAP	SQSTM1	RNASEH2B	SELENOI	BTD	CLTC	MED13L	PPP1R15B	PLP1	ADAR	COASY	TARDBP	FAR1	SPART	SRPX2	ASAH1	WDR45	CHCHD10	C19orf12	SLC19A3	AFG3L2	TRMT10A	GJA1	C9orf72	SDHB	PNP	PRPS1	SPG11	NF1	SDHA	POLG	SPG21	PEX16	MICOS13	TNFRSF11A	GJC2	MTHFR	FUZ	MTRFR	CCDC88C	ADGRG1	OPA3	CPT1C	GBA	SLC30A10	SLC25A15	IDUA	MAG	AIMP1	SDHAF1	FA2H	CYP27A1	FUS	ATP13A2	GJB1	ATP6AP2	SDHD	GOT2	TBCE	RNASEH2A	PI4KA	TTC19	SOX10	TREX1	EDNRB	RNASEH2C	BCOR	IFIH1	VCP	SP110	POLR3GL	SAMHD1
HP_CAVUM_SEPTUM_PELLUCIDUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAVUM_SEPTUM_PELLUCIDUM	NKX2-1	APC2	ALG12	MED25	PACS1	PAFAH1B1	PCGF2	CPLX1	FGFRL1	NSD1	SMG8	SETD2	SPECC1L	TUBB2B	LETM1	PPP1R21	MUSK	BANF1	CTBP1	MAPK1	NSD2	PPP2R5D	RNF125	RBM8A	LRRC32	PIK3CA
HP_EEG_WITH_POLYSPIKE_WAVE_COMPLEXES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_POLYSPIKE_WAVE_COMPLEXES	AP2M1	SLC25A1	SYT2	ADGRG1	AKT3	MYO9A	AGRN	SLC5A7	PSAT1	GABRG2	GABRD	EFHC1	PRICKLE1	PIGO	PGAP2	PIK3CA	CILK1	CHAT	PIGY	KCNQ3	JRK	SRPX2	PIGV	SLC18A3	PIGL	SYNGAP1	VAMP1	SLC6A1	SNAP25	COL13A1	SLC2A1	CHD2	CACNB4	PI4KA	CLCN2	CSTB	SETD1B	SCN1A	PIGW	NEXMIF	SCARB2	GABRA1	PGAP3
HP_LOWER_LIMB_HYPERREFLEXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_LIMB_HYPERREFLEXIA	APOE	UBE3A	NONO	DKK1	VPS11	HARS1	SELENOI	AFG3L2	MT-TE	IBA57	CAPN1	MKS1	KIF1C	CYP2U1	USP8	ARL6IP1	GLUL	IFRD1	SUMF1	C19orf12	ST3GAL5	SDHB	LARGE1	TREX1	LBR	SDHA	NIPA1	TNR	RUBCN	KIF5A	GJB1	PGM3	GCH1	MTRFR	MECP2	KDM5C	SACS	OCA2	FARS2	TH	DPM1	CLDN11	TSPOAP1	KIF1A	PDE8B	ATL1	DLAT	TAF1	SDHAF1	ALDH18A1	REEP1	SLC33A1	ATP13A2	PSEN1	HPDL	SDHD	FTL	ZFYVE26	COX4I1	KY	VCP	MSL3	FAR1	SPG7
HP_COGWHEEL_RIGIDITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COGWHEEL_RIGIDITY	SLC25A4	GABRG2	RAB39B	POLG	SCN9A	TWNK	POLG2	GCH1	MME	KCND3	MT-ATP6	TMEM240	ADAR	RRM2B	DAB1	CP	ATP6AP2	SCN1A	SCN1B	SCN2A	SLC19A3	PCDH19	GABRA1	TK2	KCNA4	NUP62
HP_STROKE_LIKE_EPISODE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STROKE_LIKE_EPISODE	MT-TS2	MT-TW	TTR	MT-TF	MT-ND6	MT-CO2	MT-TH	MT-CO1	PRNP	MT-TQ	MT-TL1	MT-ND5	MT-TK	MT-CYB	MT-TV	STIM1	MT-TC	MT-ND1	MT-ND4	WFS1	AMACR	RFT1	LRPPRC	DPM3	DPAGT1	PMM2	HTRA1	MT-CO3	NDUFA8
HP_POSITIVE_ROMBERG_SIGN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSITIVE_ROMBERG_SIGN	TWNK	NEFL	FLVCR1	MTTP	PIK3CD	POLG	PLD3	POLR3A	KNSTRN	TBP	XRCC1	RFC1	RNF170	SH3TC2	OPA3	MFN2
HP_LIMB_DYSMETRIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_DYSMETRIA	PDGFB	SLC20A2	POLG	RNASEH1	KCNC3	NF1	PDGFRB	RRM2B	GRM1	PPP2R2B	GBA2	WASHC5	CYP7B1	DAB1
HP_CEREBRAL_ARTERIOVENOUS_MALFORMATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_ARTERIOVENOUS_MALFORMATION	IL6	ENG	KRAS	RASA1	SMAD4	EPHB4	ACVRL1
HP_AQUEDUCTAL_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AQUEDUCTAL_STENOSIS	TTC26	TP53RK	FUZ	FANCB	NUP133	CLCN3	OSGEP	FGFR2	SF3B4	L1CAM	CHD7	WDR4	LAGE3	TPRKB	SLC12A6	FGFR1	NF1	NUP107	WDR73	SEMA3E
HP_MYOKYMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOKYMIA	SPTBN2	SOD1	UCHL1	CACNA1G	ATP13A2	MORC2	TBCK	ABCD1	PRKCG	PNKD	KCNA1	HINT1	GSN	KCNQ2	ADCY5	PPP2R2B
HP_LEUKODYSTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEUKODYSTROPHY	SAMHD1	NDUFB3	NDUFA1	NDUFB9	ABAT	NDUFAF6	NDUFAF5	NDUFV2	NDUFA13	NDUFS3	ALG8	ADAR	NDUFA4	FBXL4	NDUFAF4	RNASEH2A	COX6B1	NDUFB11	NDUFV1	BOLA3	HSPD1	PLEKHG2	PNPT1	SCO2	FOXRED1	SURF1	SDHA	MT-ND3	PC	ARSA	SNORD118	NDUFA9	PYCR2	KARS1	NDUFS4	EXOSC5	NDUFA10	NDUFS7	NDUFAF2	ISCA1	NDUFS2	POLR1C	LIAS	ISCA2	HIKESHI	POLR3A	NDUFS6	LIPT1	MTFMT	NDUFAF1	EPRS1	FAM126A	NDUFAF8	LMNB1	NADK2	NDUFA12	EDNRB	FA2H	NDUFAF3	RNASEH2C	POLR3B	NDUFS1	PEX1	IFIH1	TACO1	MT-ND2	PSAP	GLRX5	RNASEH2B	NDUFS8	SLC16A2	AIMP2	TAOK1	DARS2	PET100	NDUFA11	IBA57	SPTBN1	PLP1	CTC1	SDHB	PDHA1	RARS1	PEX16	NUBPL	GJC2	NDUFB10	TUBB4A	NDUFA6	DAG1	ACOX1	NDUFB8	TMEM126B	NDUFA2	TUFM	ECHS1	AIMP1	MT-ND1	GTPBP3	NKX6-2	TIMMDC1	TMEM63A	COA8	TMEM106B	ACER3	SLC19A3	SOX10	TREX1	COX15	SP110
HP_SUBEPENDYMAL_CYSTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBEPENDYMAL_CYSTS	TXN2	TUBGCP2	PDHX	PEX1	GLUL	D2HGDH
HP_ABNORMAL_MIDBRAIN_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MIDBRAIN_MORPHOLOGY	ATXN8OS	SLC44A1	FBXO7	KIAA0753	TMEM67	CPLANE1	TMEM237	CEP120	TMEM231	MKS1	TMEM216	INPP5E	MT-TT	KIAA0586	CDON	ZNF423	C2CD3	KIF7	GLUD2	TMEM107	ATXN3	CEP41	WDR45	TBP	OFD1	TDGF1	FAM149B1	CC2D2A	CEP290	SIX3	AHI1	GCH1	GAS1	TMEM138	PTCH1	ARMC9	ARL3	SNCAIP	TBCE	FTL	TOGARAM1	GALC	IFT74	TCTN3	NR4A2	DISP1	GLI2	ATXN2	RPGRIP1L	PDE6D	DLL1	ADH1C	VPS41	SNCA	TCTN1	GBA	ARL13B	CEP104	NODAL	SPG11	STIL	PIBF1	C19orf12	SLC35A2	B9D2	PRKN	SHH	TOPORS	MAPT	FOXH1	NPHP1	ZIC2	CSPP1	SUFU	FGF8	TMEM218	B9D1	BRF1	LRRK2	TGIF1	EXOC2
HP_MOLAR_TOOTH_SIGN_ON_MRI	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOLAR_TOOTH_SIGN_ON_MRI	KIAA0753	IFT74	TCTN3	TMEM67	CPLANE1	TMEM237	CEP120	RPGRIP1L	PDE6D	TMEM231	MKS1	CEP290	TMEM216	INPP5E	TCTN1	KIAA0586	ZNF423	C2CD3	KIF7	ARL13B	TMEM107	CEP104	CEP41	PIBF1	OFD1	FAM149B1	B9D2	CC2D2A	AHI1	TMEM138	TOPORS	NPHP1	CSPP1	SUFU	ARMC9	TMEM218	ARL3	B9D1	TOGARAM1	EXOC2
HP_POOR_HEAD_CONTROL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POOR_HEAD_CONTROL	NDUFB3	TTN	NDUFA1	MYO9A	HSD17B10	AGRN	NDUFB9	NDUFAF5	NEUROD2	EXOSC3	ASPA	DPM2	PIEZO2	INPP5E	NDUFV1	SCN2A	BOLA3	PNPT1	ALG2	FOXRED1	RARS2	SCN3A	MT-ND3	SDHA	PSAP	NTRK2	SELENON	MPZ	SZT2	MYPN	CACNA1G	SLC25A1	SLC16A2	SUCLG1	NUS1	CDKL5	NDUFS6	GABRA2	EBF3	SCN8A	GMPPB	NDUFAF1	COLQ	PHACTR1	TPM3	FKBP14	SNAP25	NDUFA10	NDUFAF2	NDUFAF8	ELP2	SLC18A2	ATP1A3	NDUFAF3	PCLO	CDK19	NACC1	YWHAG	NDUFS1	GNAO1	GM2A	MT-ND2	AP3D1	ARV1	CLP1	NONO	ITGA7	SLC35A2	SYT2	RALGAPA1	LAMB2	PLP1	NDUFS8	CHAT	GFPT1	IREB2	SLC5A6	PIGQ	ATP1A2	CACNA1A	GALC	KCNB1	HCN1	NDUFS2	SYNJ1	MDH2	ARX	NDUFB10	UBA5	FARS2	KCNA1	PMPCB	TMEM126B	MYL2	CACNA1B	MAP3K20	GRIN2A	TIMMDC1	TMEM63A	GABRB2	ACTA1	TRIP4	GRIN2D	PIGP	ALG14	TPM2	WWOX	TRIM8	PIGF	SYNGAP1	DHFR	COL13A1	NDUFS3	NDUFA13	NDUFAF4	ALG13	GPHN	NDUFB11	CELF2	SNAP29	SLC1A2	VAMP1	EEF1A2	MEGF10	MRPS25	MICOS13	KCNA2	SDHB	NGLY1	SPTBN4	AARS1	GNB5	PET100	NDUFS4	PPP3CA	NDUFS7	PAFAH1B1	SLC5A7	ATP6V1A	LMNA	AHCY	ACTL6B	TRAK1	GABRG2	SLC18A3	SIK1	DPAGT1	GRM7	POMK	UFC1	PNKP	LGI4	DMXL2	CYFIP2	CASK	SCN1B	WARS2	SLC13A5	GFM2	FGF12	DNM1	GABRA5	RARS1	SLC39A8	PTS	HACD1	NDUFA11	GEMIN4	HEXA	FGF13	NDUFA8	CNKSR2	EXOSC9	PARS2	NDUFV2	NDUFA6	DAG1	NECAP1	CLTC	TREX1	COG8	MT-ND1	SDHAF1	DHDDS	MYH7	SDHD	SLC25A22	COX4I1	AP3B2	NUBPL	DHX16	DALRD3	GABBR2
HP_LONG_TRACT_SIGNS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_TRACT_SIGNS	MPO	GTF2E2	NOS3	APP	HFE	TNFRSF11A	PLAU	APOE	CYP27A1
HP_ANARTHRIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANARTHRIA	ALS2	ATP13A2	SPG11	SPTLC1	FTL	TBCE	SIGMAR1	FAR1	PODXL	FUS	DNAJC6	FA2H	UBA1	ALDH18A1	SYNJ1
HP_EXPRESSIVE_APHASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXPRESSIVE_APHASIA	TMEM106B	GJB1	CHMP2B	PSEN1	VCP	NPRL2	TREM2	DEPDC5	GRN	FA2H	NPRL3	MAPT	C9orf72
HP_MENINGOCELE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MENINGOCELE	COMT	SC5D	GJA1	NOTCH3	POMT1	HIRA	TMEM216	FREM2	INPP5E	POMT2	GMPPB	CEP290	FUZ	KIAA0586	TBX1	LARGE1	VANGL2	CCL2	HES7	DACT1	WNT7A	SIN3A	LFNG	PAX3	H19	B3GALNT2	FRAS1	POMGNT1	ZSWIM6	FLNA	RIPPLY2	ALX4	OFD1	VANGL1	TBXT	FKRP	CSPP1	MSX2	MESP2	PORCN	ARVCF	SEC24C	RREB1	GRIP1	KCNQ1OT1	GP1BB	UFD1	FKTN	SNRPB	BMPER	IGF2	GLI3	JMJD1C	DLL3
HP_OCCIPITAL_MENINGOCELE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCCIPITAL_MENINGOCELE	TBX1	ARVCF	SEC24C	RREB1	COMT	INPP5E	GP1BB	WNT7A	UFD1	HIRA	JMJD1C
HP_CEREBELLAR_MALFORMATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBELLAR_MALFORMATION	LAMA1	MLXIPL	FKTN	OFD1	KRAS	B3GALNT2	TMEM216	ARID2	EXOSC3	NOVA2	KANSL1	CDKN1C	CDC42	GTF2I	CEP120	TBC1D24	EBP	MT-CYB	NCF1	KCNQ1OT1	CTSK	C2CD3	DAG1	ERF	IGF2	TCTN2	LIMK1	DOCK6	EIF4H	GNAQ	AHDC1	TMEM231	RXYLT1	HMGA2	MAB21L1	VPS51	RAPSN	DYNC2H1	B9D1	CSPP1	TMEM237	FANCI	RRAS2	SMARCA4	FKRP	SEMA3E	FGFR2	ARMC9	LARGE1	CREBBP	NOTCH2	CPT2	SC5D	MID1	ZSWIM6	PHGDH	CHD4	POMT1	NONO	DKK1	VANGL1	SOX4	TBL1XR1	NOTCH3	NRAS	COL3A1	SMARCB1	CEP290	FGFR1	FAR1	POR	SMARCC2	CRPPA	TSEN34	BUB1B	ATP6V1A	ZEB2	ALG3	WDR73	BCL7B	HYLS1	FBN1	TSEN15	SMG9	SKI	WASHC5	SLC39A14	ARID1A	TGFBR1	SEPSECS	TONSL	HRAS	COL4A1	GMPPB	TMEM67	POLR3A	RPGRIP1L	CDC45	DYNC2I1	POMGNT2	SETBP1	SOX11	PLG	GJB2	SMARCE1	ARID1B	CHD7	SPRED1	DACT1	RPGRIP1	TSEN54	NFKB2	MKS1	PORCN	LONP1	METTL27	BUB3	POMT2	TBL2	DHCR7	TGFBR2	PPP1R12A	PIGN	CEP57	NPHP3	FTO	ATP6V1B2	GPC3	RFWD3	MAF	B9D2	DNMT3A	AFF3	ZIC1	ASXL1	POMGNT1	LEMD3	OPHN1	ELN	PIK3CA	DPH1	KIAA0586	USP9X	TMEM270	RFC2	TSEN2	FOXF1	ATP6V0A2	DPF2	DYNC2I2	SIK3	GRM1	SETD2	BICRA	FKBP6	TMEM138	DOK7	TUBB	STX1A	RNF113A	CCDC22	KIF7	SMARCD1	BAZ1B	TCTN3	B4GALT1	SON	MAN2B1	POMK	PHEX	BUD23	EVC2	SLC18A3	TXNDC15	PMM2	DNAJC30	TCTN1	SNX14	PIEZO2	EVC	FGFR3	GTF2IRD2	FLVCR2	SH2B1	VPS37D	PPP1CB	EP300	DENND5A	GLI3	TAOK1	ATP6V1E1	SMO	NUP88	PTCH1	TMEM107	PTH1R	PAX2	B4GAT1	SMARCA2	BUB1	SLC35A2	PDHA1	SALL1	KCNQ1	FUZ	FLNA	GPC4	WDR81	NFIA	TRIP13	AP1S2	CC2D2A	MAP3K7	MUSK	DPYSL5	GRIA3	IFT80	CLIP2	DHDDS	GTF2IRD1	GJB6	MYOD1	BCOR	WDR35	CWC27
HP_DYSCALCULIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSCALCULIA	TBK1	APC2	C9orf72	SRY	SQSTM1	TREM2	CACNA1A	HNRNPA2B1	TMEM106B	SETD2	GRN	TARDBP	PSEN1	MAPT	FUS	FMR1	VCP	CHCHD10	CHMP2B	PNKP	MAP1B	NSD1	HNRNPA1
HP_HYPOTHALAMIC_HAMARTOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOTHALAMIC_HAMARTOMA	SMO	CPLANE1	TOPORS	VPS16	TCTN3	KIAA0753	OFD1	PDE6D	SOX2	SIX6	TMEM216	KIF7	FAM149B1	GLI3
HP_TETRAPLEGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TETRAPLEGIA	GABRA3	GALC	ALS2	KRAS	DPYD	PAFAH1B1	ALDH18A1	FGFR1	ARSA	BCAS3	RANBP2	TXNRD2	BCAP31	TBCD	NNT	TRAPPC2L	ARX	MC2R	PRPS1	KCNJ18	TFG	NHLRC2	KCNT1	AIFM1	NADK2	PRF1	MRAP	STAR	ATP1A3	CACNA1S	ATP1A2	PNKP	NDUFA8
HP_ASTROCYTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASTROCYTOSIS	TSC1	C9orf72	TREM2	PSEN1	SLC30A10	TMEM106B	PRNP	TSC2	ERCC6	MTOR	STRADA	GRN	MT-ATP6	ADAR	MAPT	SQSTM1	CHMP2B	VCP	POLG	LAMA2	ERCC8	NUP62
HP_PROGRESSIVE_ENCEPHALOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_ENCEPHALOPATHY	SUCLA2	TSPOAP1	BSCL2	TH	HTRA1	GLYCTK	TBCE	NADK2	TREX1	WDR45
HP_LIMB_DYSTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_DYSTONIA	SLC6A3	ARX	PTCH1	PARK7	VPS11	YIF1B	ALS2	SPTLC1	SIGMAR1	SHH	CKAP2L	ZIC2	SIX3	VPS16	TGIF1	STAG2	STIL	CDON	PRKRA	GLI2	GCH1	GNAL	JAM2	GCDH	FGF8	ANO3	SPATA5	DLAT	FOXH1	DLL1	FGFR1	GAS1	THAP1	FTL	TAF1	SLC18A2	SYNE1	PANK2	HPCA	DISP1	NODAL	TDGF1	VPS13A	SPG11	AFG3L2	COL4A1	TH	COL6A3	WARS2	GFM2	CYB5R3	SMC1A	AOPEP	COX20	DDC	FUS	VPS37A	ATP1A3	TSPOAP1	MAPT	BSCL2	FITM2	TUBB4A	PNPT1	CYB5A	VPS13C
HP_ABNORMAL_GLOBUS_PALLIDUS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GLOBUS_PALLIDUS_MORPHOLOGY	SLC44A1	GCDH	NDUFS2	NDUFB8	SLC30A10	VPS41	POLR2A	DLAT	FA2H	COASY	CYP2U1	CYP27A1	PANK2	KCNQ2	VPS16	SCO2	SURF1	NDUFAF3	FTL	C19orf12	IDH1	MMUT	PLA2G6
HP_ABNORMAL_HEAD_MOVEMENTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEAD_MOVEMENTS	FMR1	VAMP1	KIF1C	LAMA1	VPS13A	GAMT	LMNB1	SPG11	ALS2	SPTLC1	SLC2A1	SIGMAR1	NAA10	GABRA1	JRK	EIF2AK2	MAPT	HIBCH	NKX6-2	CACNA1H	UCHL1	TMEM63A	GABRG2	PRNP	GPR88	SPTBN1	PEX10	PLP1	CACNA1A	DLAT	FUS	GJC2	PIGT	GABRB3
HP_DISTAL_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_MUSCLE_WEAKNESS	GDAP1	AIFM1	COA7	ACTN2	HARS1	MYO9A	MPV17	ALS2	AGRN	LITAF	RAI1	SPTLC1	GIPC1	SETX	GARS1	TIA1	INF2	PMP22	LMNA	SQSTM1	DYSF	DES	MYH14	RFC1	CHCHD10	ALG2	MTMR2	HADHA	ACTA1	PRPS1	ATXN1	TYMP	JAG1	MPZ	LRP12	ABCA1	LIG3	NAGA	NEFL	GCH1	TRPV4	SACS	BIN1	SLC25A1	GTPBP2	KLHL9	HADHB	MYH7	HNRNPA2B1	MAP3K20	ATP7A	IGHMBP2	ELOVL5	FBLN5	TPM3	REEP1	C19orf12	COLQ	GRIA3	VCP	CHP1	LRSAM1	SNAP25	GMPPB	COL6A2	PTRH2	COL6A3	SBF2	EGR2	MFN2	SPTLC2	JPH1	SYT2	HK1	VHL	LAMB2	SH3TC2	ERLIN2	TTN	FLNC	SORD	MME	PLEC	PPP1R15B	CHAT	GFPT1	ADSS1	MED25	DARS2	CAV3	AFG3L2	CRYAB	PLEKHG5	NOTCH2NLC	MYOT	GAN	MYBPC1	FUS	RYR1	NDRG1	CACNA1A	FIG4	TDP1	ANO5	PNKP	MAPT	RAB7A	GYG1	BSCL2	SCN1A	GNE	HSPB1	PRRT2	SOX10	FGD4	HSPB8	ATXN3	ALG14	RELA	DYNC1H1	POLG	COL12A1	CPOX	GBF1	NEB	SIGMAR1	CADM3	PRX	IBA57	HMBS	TARDBP	PABPN1	ANG	PNPLA6	YARS1	VAMP1	DNM2	ATL3	DCTN1	PNPLA2	MORC2	SLC5A7	CPT1C	ATL1	LDB3	DGUOK	DHH	TCAP	SLC18A3	MTRFR	RRM2B	COL13A1	COL6A1	DPAGT1	HINT1	BICD2	TNPO3	ATP1A2	HNRNPA1	TBK1	VPS13A	ABCD1	SPG11	VPS13D	FLVCR1	MYH2	ZFTA	DCAF8	SCYL1	VWA1	MATR3	AARS1	SLC25A21	NUTM2B-AS1	TRMT10A	C9orf72	KIF1B	TNR	SECISBP2	HSPB3	MTTP	TK2	JAG2	UBA1	VAPB	GJB1	MT-ATP6	EXTL3	XRCC1	SARDH	ZC4H2
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	PDGFRB	SLC20A2	ERCC6	ERCC8
HP_LANGUAGE_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LANGUAGE_IMPAIRMENT	PRODH	FKTN	INPP5E	NTNG2	UNC80	MYT1L	MECP2	DCPS	ZEB2	DCC	EED	NCDN	CCDC40	BRAT1	TBCK	CCDC28B	CLCN4	DLK1	NDN	SLC2A1	MACF1	EXOSC3	SRPX2	DPM2	GPC3	AGA	CDC42	FAR1	TAF2	SYNGAP1	TGIF1	VCP	RAB11B	TRIP12	PHF21A	MED27	PAK1	SIX3	EXOSC5	MORC2	CRAT	FOXP2	RPS6KA3	ODC1	PTCH1	TUBG1	UBB	ISCA2	SRCAP	NCAPD2	RSRC1	CDON	RSPH1	EBF3	GNAS	RSPRY1	MT-ATP6	TBCD	LRP5	RPL10	ACOX2	PHKB	FGFR1	PACS1	NSDHL	CASK	C19orf12	OFD1	GORAB	GNB5	STRADA	EMC10	TOGARAM1	CRKL	ADK	TRAPPC14	RIMS2	ERCC2	SERAC1	CNTNAP2	CTNNA2	ACADS	GLS	RNU7-1	TBX4	ERLIN2	CC2D1A	ARV1	CLP1	PTPN23	RAC1	EHMT1	DPYS	TIMM50	PSEN1	SNX14	TECR	GMNN	PUS3	SMARCB1	MEG3	TH	WIPI2	FMN2	POU3F3	ATP6V1A	PHF8	ATP1A2	SHANK3	SETBP1	STIL	SLC33A1	COG4	KMT2C	CLCN3	TOMM40	COPB1	FRRS1L	TKFC	ATP1A3	NODAL	SPTBN1	ASPA	KARS1	RSPH9	PLP1	NOTCH3	CPLX1	CHAMP1	FBXW11	WDFY3	CACNA1B	DDX6	ALMS1	TCF20	RAI1	MAPT	SLC6A3	TUBB4A	NIPBL	RMND1	UBA5	SOX5	ODAD3	ZIC2	TMEM94	ZNF711	RTL1	GRID2	TELO2	SMS	ARID1B	REPS1	MRPL12	ZSWIM6	IRF6	DEGS1	CSPP1	TUSC3	BCORL1	DISP1	RLIM	DNAJB13	GABRG2	ALDH18A1	NPAP1	GALNT2	GABRB2	CREBBP	PGK1	NSUN2	TRIP4	TMCO1	GRN	USP9X	DYRK1A	HCN1	TCTN2	SLC44A1	PBX1	SPEN	DYNC1I2	ADAT3	GATM	ADGRG1	ALDH7A1	TMEM231	KAT6B	PLAA	EEF1A2	AUH	DNAH5	PRKD1	LEMD3	VPS4A	TENT5A	SNRPN	DNAAF11	C2CD3	SLC1A2	LIPT2	SPARC	SPAG1	ODAD1	KCNA2	DHX30	NGLY1	GALE	AARS1	SYT1	TDGF1	QRICH1	COG8	KMT2E	TENM3	UBE3B	OCA2	FGF8	UBE3A	TBK1	NSD1	HPDL	RUBCN	RUSC2	SMARCD1	SPATA5	ACTL6B	SLC6A17	USP27X	CAMK2A	CCDC65	PDE4D	GAS1	MICU1	MAGEL2	GOT2	GMPPB	WDR37	PMM2	DNM1	ANK3	SATB2	MSL3	PRKRA	TCF7L2	PUS7	TLK2	DLL1	SIAH1	BCL11B	TWIST2	SLC25A42	SYNCRIP	AASS	GRIN2A	DEAF1	EP300	GABRA5	AGO2	ARL13B	IGF1R	PTS	L1CAM	ST3GAL3	EMC1	TCF4	OSGEP	FGF12	TNR	TFE3	SLC1A3	SNORD115-1	FRMD4A	LRRC32	CNKSR2	MED23	PARS2	SHH	IQSEC2	PGAP1	IARS1	KDM3B	NECAP1	MESD	SETD5	CLTC	MAPRE2	YARS1	TAF1	KNL1	GNAO1	ORC6	THOC6	KAT8	SETD1A	ZNF81	CCND2	KIAA0753	GNB1	KMT5B	SVBP	STAG1	PYCR2	EXOSC2	TUBA8	UFM1	ZMYND10	YIF1B	SUPT16H	DRC1	RALA	KDM4B	PURA	TBR1	BCAS3	TTI2	TRIT1	NOVA2	VLDLR	ABCA7	HERC2	PIGG	CTCF	RFC1	AFF2	STAG2	CHD2	SDHA	TBC1D24	PSMD12	LAS1L	NIPA1	NUP62	ZMIZ1	TRAPPC9	ACAD8	ALG12	TRMT1	PIGN	PRKCZ	SLC16A2	HNRNPA2B1	HIKESHI	TPRN	WARS2	UGP2	HCN4	PSMG2	GABRA2	AP4B1	GPAA1	FKRP	SOD1	TNPO2	UGT1A1	PPP2R1A	TNRC6B	NEXMIF	PPP2R5D	GLI2	IRAK1	CUL4B	ELP2	NAA15	LSS	POMT1	EN1	BRWD3	DOLK	TPP1	CDKN1C	PLA2G6	AP3B2	DYNC2I2	ARID2	ADNP	LINGO1	RALGAPA1	UBE4A	SLC1A4	COL3A1	MCIDAS	KCNAB2	MKS1	ARL6	IREB2	DMD	CBL	ARHGAP29	NUP107	MYRF	COG1	PIGS	FDXR	ACSL4	SELENOI	ACTL6A	ACBD5	VPS11	TANC2	PRPS1	MSTO1	VPS37A	NF1	HERC1	PDPN	PHKA2	TBX1	TP53RK	TSPAN7	WWOX	MAPK1	LINS1	MED12	TMEM106B	SLC9A7	HIVEP2	EZR	TRPV6	GRIA4	SLC12A2	HS2ST1	DNAAF6	ANKRD17	NALCN	HSPG2	IL1RAPL1	DPYD	ASPM	DHTKD1	ATP6AP2	EFTUD2	GSX2	SATB1	KIAA0586	SIK1	CELF2	USP7	APC2	NTRK2	BPTF	HSD17B10	CCDC39	COA8	GATAD2B	KCNA1	CCNO	SDHB	SPTBN4	KMT2A	NLGN3	ALDOA	FOXJ1	MRPS14	BIN1	EXT2	DNAJC12	CLN8	TUBB	PAFAH1B1	MPDU1	DNAAF5	NIPA2	RPGR	PIGY	STXBP1	ASXL2	KIAA1109	ATXN3	SMAD6	WDR45B	FMR1	PCDH19	ACSF3	MAN2B1	LHX1	KPTN	ARX	ERMARD	LIG4	SLC25A12	MRAS	ACOX1	DNAI2	SIN3A	ATP6V0A2	SHROOM4	LTBP4	SLC45A1	SEC23A	B3GALNT2	MED13L	KDM5B	GRIK2	TTN	CRADD	DENND5A	FANCF	TAOK1	HACE1	WDR45	MED12L	ALKBH8	COX20	GEMIN4	ZNF292	ASXL3	MBD5	UPF3B	INTS1	WASF1	RORA	FGF13	TANGO2	KCNA4	NFIX	ADSL	NDUFA8	ZMYM2	MAN1B1	NEK10	ARF1	FOXG1	FOXH1	SF3B4	PTCHD1	EARS2	DLG3	WDR62	GRIA3	DHDDS	PYCR1	NEK1	CEP63	DAG1	MN1	GLYCTK	EXTL3	TREM2	OTUD6B	TRIO	BTK	HCFC1	KLHL15	GAMT	DALRD3	GABBR2	CWC27	HYDIN	WDR81	CHD3	TRAPPC11	CLIC2	FLCN	SEMA6B	POLR3K	HK1	KANSL1	CCDC88A	FRMPD4	KIF4A	KIDINS220	NFE2L2	GPT2	MRPS34	DNAAF2	LMNB1	DOCK3	SCN3A	FBXO11	KDM1A	YY1	TOR1A	AHDC1	SZT2	AMER1	AP2M1	GPC4	SET	ATAD3A	PIGW	ODAD4	CTBP1	LRRC56	FIBP	SPP1	SMARCA4	FTSJ1	CFAP418	SOBP	BRPF1	DLG1	ARMC9	EIF2S3	COG5	ATG7	GALT	MADD	DPYSL5	NACC1	YWHAG	C12orf4	ERF	PHKG2	DNAH1	PLAG1	PACS2	LRPPRC	KDM5C	WAC	SMC1A	NEDD4L	CNNM2	RHOBTB2	EIF2AK2	IQSEC1	SPTBN2	AIMP2	MAPK8IP3	GRIN1	THRB	HNRNPU	NECTIN1	KCNMA1	WDR4	ARHGEF6	DARS2	WDR73	CACNA1A	TRAPPC2L	ARID1A	KCNB1	CFAP300	PPM1D	BRCA1	SYNJ1	MDH2	MKRN3	HNMT	TBC1D7	WDR26	ATP10A	SOX11	MED25	COG6	POR	AUTS2	PIGV	PRDM16	DNM1L	POGZ	TSPOAP1	POMGNT2	NARS1	SMARCE1	MSX1	FBLN1	LMAN2L	HOXB1	PRNP	LMNB2	CWF19L1	GRIN2B	HOXA2	GRIN2D	CCDC32	TBL1XR1	FIG4	CDK13	MAP1B	PRMT7	MFF	PDE2A	CAMTA1	PIGP	CHKB	PRKAR1B	PIGF	ACADM	ASXL1	FBXL3	GFM2	CCDC174	RERE	MRE11	IFT172	CLIP1	SPEG	KYNU	TRRAP	ALG13	RYR1	CNOT1	PTEN	AP1G1	LNPK	ASH1L	SLC6A1	SLC17A5	WASHC4	TMTC3	SMARCA2	SLC25A46	UBR7	SIM1	PRR12	GRM1	DNAAF4	CARS2	RORB	HMGA2	BMP4	CLDN11	KCTD7	MCOLN1	SMARCC2	TOE1	PIK3R1	NAA20	FOXP1	MEF2C	FBXO31	HNF1B	MFSD8	BMPR1B	ADD3	TBC1D20	PPP3CA	RAB39B	NONO	ALG11	PI4KA	CDK10	KCNJ10	NR2F1	STAT4	ADARB1	PRSS12	CYFIP2	FLII	HNRNPH2	PMPCA	VPS41	LAGE3	SPOP	AGTR2	SLC13A5	GRIA2	PPP1CB	GAS2L2	AIFM1	METTL23	SETD1B	SCN1A	RNF2	ODAD2	SQSTM1	ZNF462	EDC3	NTNG1	ANKRD11	TMEM222	PIGO	PPIL1	CNOT3	UBE2A	RNASET2	SCN8A	SDHAF1	SH2B1	SDHD	NXN	KCNQ5	TINF2	GRHL3	PAK3	SNORD116-1	AMN	NBEA	CFAP221	CACNA1E	AMMECR1	GNPTAB	ITPR1	LAMA1	PSEN2	ZBTB18	CAMK2B	TRIM8	NRAS	XRCC4	PIGC	ALG14	TKT	MCTP2	SGCB	ZC3H14	NLGN4X	ZNF41	PNPT1	MED13	RARS2	CHMP2B	TTC12	GDI1	TM4SF20	UQCRQ	CNOT2	PRKAR1A	VPS33A	IGF2	GNE	INTS8	CFAP298	PUF60	SARS1	XYLT1	NDUFA4	GAS8	KIF1A	NUS1	KCNH1	DNAAF3	UBE4B	LMX1B	CUL3	DCX	KAT6A	NEMF	PGAP2	ZNF142	HUWE1	RNF125	CDK19	APP	MINPP1	DPAGT1	BBS1	UBTF	PEX1	SPEF2	TMLHE	CHMP1A	SLC35A2	INTU	MTPAP	MYO9A	KIF5C	SOX4	DNAI1	METTL5	RSPH3	PALS1	FLNA	GEMIN5	TET3	ST3GAL5	SLC6A8	TUBB3	MBOAT7	TBC1D23	MMP23B	SYP	KIF15	DNAAF1	GJB1	FARS2	ZNF407	TNIK	CRBN	PMPCB	GRM7	TTC5	SPRED1	GNB2	HS6ST2	BBS9	BSCL2	PCYT2	POMT2	ALDH4A1	SORL1	PWAR1	DYM	TRAF7	B3GALT6	GNS	THOC2	HTT	STK36	CCDC47	PPP2CA	DNAL1	NCAPG2	PUM1	DPF2	DLX4	CLN5	UFSP2	SETD2	MID2	IFT74	NDST1	RSPH4A	RRP7A	SFXN4	TRAK1	OPHN1	DNAH9	ADAR	DNMT3A	MEIS2	CASZ1	CUBN	TSHR	LMBRD2	STEEP1	SLC9A6	HNRNPA1	MTFMT	UFC1	BCR	MFSD2A	YME1L1	SPART	ATP6V1E1	CCDC103	LUZP1	PWRN1	AIMP1	RAB3GAP2	ZC4H2	EZH2	CSNK2A1	PIGA	SHMT2	TBCE	JAG2	TREX1	CARS1	GABRD	SKI	IFIH1	MCM3AP	ALDH5A1	ZMYND11	SPR	FTCD	C9orf72	VAC14	ATP5F1D	TP63	DNAH11	TRAPPC4	NME8	RTTN	JARID2	LARGE1	CDH1
HP_SPASTIC_DYSARTHRIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTIC_DYSARTHRIA	VAMP1	SPG7	ERLIN2	TDP1	GLRX5	ATP2B3	POLR3A	AP4E1	PRNP	AP4M1	RAB3GAP2	MAG	ATXN8OS	MAPT	GBA2	AP4B1	ALDH18A1	SPART	ALS2	MARS2	AP4S1	AFG3L2	PEX6	FAR1	GJB1
HP_POOR_SPEECH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POOR_SPEECH	CAD	UBE3A	FKRP	PTCH1	KAT6A	DCPS	TREM2	CACNA1I	NALCN	NCDN	DAG1	RTTN	TBCK	CLCN4	ASPA	SNAP25	MED25	VLDLR	SHH	GRN	AP4B1	CDC42	PIGC	TAF2	CDH15	MAPT	SLC6A17	ZC3H14	SIX3	KIF1A	ZNF41	CHSY1	TGIF1	STAG2	GDI1	CHMP2B	WDR45	FTSJ1	DLAT	KCNK4	PAK1	TRIO	SET	TRAPPC9	SARS1	MAN1B1	C9orf72	ODC1	PRKCZ	ZNF148	CDON	KANSL1	FOXH1	DLL1	ERBB4	UBE4B	CSF1R	MYT1L	TBCD	FGF8	SNRPN	SLC35A1	SOBP	FGFR1	ZIC2	CACNG2	SLC9A7	GLI2	EIF2S3	DOCK7	FOXP2	ADK	DIAPH1	CNKSR2	TAF6	LARGE1	C12orf4	CNTNAP2	TDGF1	CTNNB1	AP1S2	MID1	CC2D1A	MRPS2	IQSEC1	CHMP1A	NONO	TSC1	CAMK2B	PUS3	MED12L	KCNAB2	WIPI2	GAS1	FMN2	GRIN1	PPP1R15B	MBD5	ZMYND11	ATP6V1A	DMD	CIC	FRRS1L	MED13L	ZEB2	ARHGEF6	PPP2R1A	EGF	STIL	WDR73	TRPM3	AP4S1	SMC1A	VPS11	ASH1L	GPR88	RAC1	NBEA	IQSEC2	CUX1	KIRREL3	FDXR	INPP5E	TUBB3	ACSL4	MBOAT7	TCF4	MMP23B	NUBPL	TRAPPC11	GJC2	HNMT	GUSB	SYP	KIF15	TUBB4A	CHAMP1	ATP10A	UQCC2	DEAF1	NODAL	PDPN	SLC39A14	MTHFS	ZNF711	CRBN	APC2	TELO2	PRDM16	GRM7	TSPAN7	AP4E1	TTC5	EPB41L1	HS6ST2	TRMT5	NDUFS1	LINS1	TUSC3	DISP1	SQSTM1	LAS1L	MED12	LMAN2L	NDUFA6	POMT1	BRF1	UBE4A	NSUN2	EXT2	EZR	USP9X	ALG9	DYM	ADPRS	SASS6	SMC3	RSRC1	CHKB	TNIK	HSPG2	IL1RAPL1	FBXL3	SPEN	RERE	CLIP1	PRICKLE2	NDUFA13	DYRK1A	OPHN1	TRRAP	ATP6V1B2	WASHC4	GATAD2B	NGLY1	PGAP1	CAMK2A	PPP2R5D	HIVEP2	SYT1	HNRNPK	GMPPB	ATAD3A	DLG3	NAGS	KIF14	PPP3CA	OCA2	UFSP2	GAMT	MID2	NDST1	CCDC22	GRIN2B	EEF1A2	NAA20	TSC2	SYNGAP1	TECR	FBXO31	SLC12A2	SLC19A3	CASZ1	FRMPD4	ARX	ALG13	DYNC1H1	RAB39B	UBE2A	LRPPRC	STEEP1	POMK	GATA4	KDM5B	CNNM2	HDAC8	SLC45A1	SETD1B	PRSS12	PLPBP	B3GALNT2	PIGH	SMARCA2	TMEM106B	AGTR2	GRIK2	FOXRED1	KCNQ5	UNC80	CRADD	PSEN1	SATB2	ATP6V1E1	SLC39A8	HEPHL1	LUZP1	METTL23	ST3GAL3	ALKBH8	VCP	TRMT10A	CLTC	AIMP1	DOCK8	FGF12	RAB11A	UPF3B	RPS6KA3	FRMD4A	EDC3	CLIC2	POMT2	MED23	CSNK2B	PTCHD1	RLIM	COG8	GABRD	SKI	AP4M1	BRSK2	RNASET2	KCNMA1	ATP6V0A2	USP27X	PAK3	TAOK1	ZNF81	MECP2	MTO1	NEMF	AP1G1	SARDH	HCFC1	PYCR2	GNPTAB
HP_NONPROGRESSIVE_CEREBELLAR_ATAXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NONPROGRESSIVE_CEREBELLAR_ATAXIA	ITPR1	ABCB7	DNAJC19	CWF19L1	ATP2B3	ATCAY	NADK2	FRMD4A	CAMTA1
HP_SMALL_CEREBRAL_CORTEX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_CEREBRAL_CORTEX	MCPH1	CENPJ	KIF14	TCF4	CDK13	CDK5RAP2	ASPM	ZNF335
HP_EXPRESSIVE_LANGUAGE_DELAY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXPRESSIVE_LANGUAGE_DELAY	PUF60	SHH	GAS1	HERC1	DISP1	SHMT2	GLI2	FOXH1	PTCH1	ASXL1	FLCN	DLL1	NSD1	POGZ	ZIC2	SRCAP	SH2B1	YARS1	RAI1	SPATA5	RSPRY1	TAF1	SDHAF1	GRIA3	ARID1B	FOXP1	DPYD	ZEB2	CDON	KMT2C	SDHD	FGF8	SDHB	NODAL	STIL	TGIF1	TUBB3	SDHA	FOXP2	TDGF1	EHMT1	GNB1	AHDC1	GNE	SIX3	GNPTAB
HP_MYELOMENINGOCELE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYELOMENINGOCELE	FLNA	FUZ	ALX4	SC5D	OFD1	TBXT	FREM2	VANGL1	HES7	MSX2	PORCN	GRIP1	KCNQ1OT1	VANGL2	CCL2	DACT1	SIN3A	PAX3	SNRPB	H19	FRAS1	BMPER	IGF2	GLI3
HP_PRIMITIVE_REFLEX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMITIVE_REFLEX	PSEN1	SPG21	GM2A	MAPT	HADHB	JPH3	MME	DNMT1	DCTN1	GLRB	ATP13A2	ALDH18A1	ST3GAL3	TYROBP	NGLY1	HADHA	TUBB3	CTSF	DPM2	TREM2	PIEZO2
HP_PROGRESSIVE_SPASTIC_QUADRIPLEGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_SPASTIC_QUADRIPLEGIA	GM2A	ARG1	ATP13A2	PAFAH1B1	ACP5	SPTBN1	PSAP	PLP1	PLAA	ARSA	FA2H	NADK2
HP_HEPATIC_ENCEPHALOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATIC_ENCEPHALOPATHY	RYR1	PCK1	NBAS	DLD	RINT1	ALMS1	SLC25A13	ZNFX1	EIF2AK3	XIAP	SH2D1A
HP_BULBAR_SIGNS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BULBAR_SIGNS	MT-TL1	PLAA	FIG4	ACTA1	CHCHD10	SPG11	ATXN1	SLC39A14	RYR1	ALS2	NEB	SPTLC1	TFG	SIGMAR1	KLHL41	GFAP	PSAP	ARSA	ATP1A2	MT-ND2	MT-TK	MT-ND5	REEP1	MT-ND3	MATR3	MT-ND4	MT-TW	ATP1A3	TPM3	MYPN	CACNA1A	MT-TV	SLC1A3	GSN	FUS	MT-ATP6	TPM2	PLA2G6	MT-ND6	KBTBD13	GBA	MT-ND1
HP_MYOTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOTONIA	CLCN1	DMPK	CNBP	LIFR	ANO5	TMEM43	TTI2	CACNA1A	VMA21	SCN4A	CAV3	SGCG	LMNA	DNAJB6	HSPG2	PFKM	CAVIN1	UCHL1	PURA	SYNE2	FHL1	KCNA1	EMD	HINT1	ACTA1	SVIL	SYNE1
HP_HYPERKINETIC_MOVEMENTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERKINETIC_MOVEMENTS	SUCLA2	SCN1A	SLC6A3	TRAPPC11	IQSEC2	VPS13A	PNKD	HSD17B10	GAD1	FRRS1L	PRRT2	RTTN	THOC2	ALDH5A1	NEUROD2	PDE10A	SYT1	GRIN1	YME1L1	GNAO1	PTS	PSAP	NGLY1	ZNF142	GCH1	SUCLG1	CACNA1B	PYCR2	GRIN2A	SLC9A6	CACNA1E	GNE
HP_ACUTE_LEUKEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_LEUKEMIA	SAMD9	APC2	CALR	EFL1	MPL	GATA2	RPL15	GFI1	GATA1	SMPD1	XRCC4	DNMT3A	HAX1	SAMD9L	TET2	LIG4	RPL18	RPS17	RPS7	FLT3	ASXL1	TAL1	RPS28	DNAJC21	PIGL	JAK2	SRP54	TERT	THPO	BCR	RPL35	RUNX1	CHEK2	ADH5	RPL11	EVC2	ATRX	TYROBP	KRAS	RPL5	BLM	GLI1	WAS	WIPF1	BRCA2	CEBPA	RPL26	IDH1	RPS27	CHIC2	NSD1	PICALM	NBN	BAX	NUP214	MLLT10	RPS24	TREM2	SBDS	DKC1	SETD2	NUMA1	RPS20	BUB1B	ADA2	SH2B3	RPS14	SRSF2	RPS19	RARA	RPL27	CBFB	MSH2	NPM1	SF3B1	TP53	BUB1	ELANE	DYNC2LI1	ETV6	IKZF1	RPL35A	RPS10	SH3GL1	CDKN2A	RPS26	RPL31	TRIP13	GNB1	EVC	NSUN2	SPRED1	RPS15A	MEFV	RPS29	LPP	TSR2	MDM2	BUB3	KIT	TAL2	DDX41	CEP57	ERBB3	STS	TCIRG1	ABL1
HP_INCREASED_CSF_LACTATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CSF_LACTATE	MT-TL1	NDUFB3	NDUFA1	MT-ND6	NAXE	SLC25A4	HSD17B10	NDUFB9	GFM2	NDUFAF6	NDUFAF5	COX14	NDUFV2	NDUFA13	PDHA1	NDUFS3	NDUFA4	NDUFAF4	MT-ND3	COX6B1	NDUFB11	NDUFV1	PET117	PDHX	MRPS34	PNPT1	SCO2	FOXRED1	RARS2	SURF1	SDHA	COA8	SUCLG1	NDUFA9	MT-TS2	PET100	NDUFS4	MT-TW	NDUFA10	NDUFS7	NDUFAF2	NDUFS2	MT-TH	MTRFR	NDUFS6	LIPT1	MT-TK	MTFMT	MT-CO1	NDUFAF1	HTRA2	NDUFAF8	MT-ND1	HPDL	MT-ND5	TXN2	NDUFA12	LRPPRC	SLC25A19	NDUFAF3	MT-TV	NDUFS1	MT-ATP6	TACO1	MT-TN	MT-ND2	COX8A	GFM1	NDUFS8	AIFM1	DARS2	MT-TF	SLC39A8	MT-ND4	NDUFA11	COX20	MDH2	NDUFB10	MECP2	NDUFA8	MT-CO3	RMND1	NDUFA6	TRAPPC12	MT-CO2	NDUFB8	TMEM126B	NDUFA2	ECHS1	COQ8A	COX10	TIMMDC1	LONP1	TRMT10C	SLC13A3	MPV17	ALDH4A1	COX4I1	SLC19A3	COX15	MT-TQ	NUBPL	NARS2
HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_CORTICOSPINAL_TRACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_CORTICOSPINAL_TRACT	SLC33A1	TBK1	MLXIPL	GTF2IRD2	ABCD1	SQSTM1	ALS2	FLII	NTN1	VPS37D	PLP1	PRPH	DEAF1	DCTN1	WASHC5	TARDBP	ELN	PDHB	RTN2	BCL7B	TMEM270	GTF2I	NCF1	SPG11	CHCHD10	RFC2	C9orf72	MT-ATP6	LIMK1	EIF4H	DNAL4	UBAP1	FKBP6	STX1A	CPT1C	NEFH	BAZ1B	DCC	RAI1	ATL1	FUS	KPNA3	SPG7	METTL27	IQSEC2	TBL2	CLIP2	BUD23	NIPA1	GTF2IRD1	RAD51	L1CAM	GALC	DNAJC30	SOD1	SPAST	VCP
HP_UPPER_MOTOR_NEURON_DYSFUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_MOTOR_NEURON_DYSFUNCTION	NDE1	TARDBP	IL12A	CNPY3	CACNA1I	NALCN	NCDN	RTTN	CLCN4	SLC2A1	ABCD1	OPA3	TXNRD2	TAF2	ENTPD1	CHCHD10	TGIF1	RAB11B	ATXN1	MICOS13	ERCC3	EXOSC5	NDUFA10	MORC2	SUCLA2	GTPBP2	ODC1	ISCA2	SMARCE1	REEP2	MT-ATP6	MYT1L	TBCD	ALS2	TRAF7	CHP1	COG2	GBA	PRF1	STAT4	PLP1	PEX5	CTNNA2	GLYCTK	CDON	SYNJ1	CC2D1A	ARV1	CLP1	TIMM50	MED25	GLRX5	SQSTM1	CAV1	ERCC5	CYB5R3	ATP6V1A	ATP1A2	RTN2	PDGFB	GALC	PSAP	FRRS1L	MAPT	PET100	ATP1A3	IBA57	ASPA	AP4E1	NOTCH3	TBK1	NIPA1	RAB3GAP1	TCF20	PPP2R2B	RNASEH2B	GJC2	CHAMP1	SIX3	UBA5	DUSP6	SLC39A14	EPCAM	DCTN1	RNASEH2C	MTHFS	SCYL2	ZNF711	TARS1	POLA1	GRID2	REPS1	GABRA5	RAB3GAP2	DEGS1	GBA2	DISP1	TERT	FGF8	SOX10	STAMBP	FKTN	NKX6-2	VAMP1	TCTN2	ALDH18A1	MATR3	PIK3CA	KCNA1	SLC44A1	ARNT2	MT-TF	FIG4	ETHE1	VWA3B	DYNC1I2	ADAT3	ADGRG1	PLAA	AUH	PLA2G6	POMGNT1	PNPLA6	PEX11B	DCC	PDHX	FLRT1	MT-TC	ARFGEF2	NUP214	POLG	ATAD3A	ARSA	CHMP2B	DDHD1	CLPB	CSF1R	PON3	KIF1A	SET	RUSC2	SPATA5	NT5C2	GDF3	ROGDI	MTRFR	GAS1	SCN2A	PEX6	BUD23	DNAJC30	BRAT1	PRKRA	PNKP	SPATA5L1	MFF	SETD1B	CNP	TUBA1A	HSPD1	SCN1B	KCNJ13	AASS	SLC16A2	TUBGCP2	RNASEH1	CRLF1	PSEN1	TUBB2B	LYST	OSGEP	PIGT	ERCC8	MED27	RAB11A	SPAST	DSTYK	SLC1A3	XPA	MT-ND6	B4GAT1	MECP2	PGAP1	PEX13	NECAP1	CLTC	TELO2	PROK2	TFG	ECHS1	USP27X	HPDL	RNF216	ZNF81	VAPB	CACNA1G	IARS1	SLC19A3	DPM3	UBQLN2	PYCR2	POLR3GL	APC	GABRA3	SPG7	UFM1	YIF1B	HTRA1	WASHC5	ASAH1	SLC6A5	CYP7B1	SCO2	AIFM1	STAG2	PINK1	GLB1	ATN1	MT-TW	NUP62	BICD2	KIF1C	TRAPPC9	FGF13	PEX7	JAM2	DDX3X	HIKESHI	SDHA	CDKL5	RNF170	GABRA2	MLH1	CYP27A1	KPNA3	SOD1	IMPDH1	SMPD1	CBS	IRAK1	FTL	EDNRB	MCCC2	HMGCL	TACO1	GM2A	EIF2B2	PFN1	ATXN2	ARG1	RALGAPA1	KCNAB2	PPP1R15B	SPTAN1	IREB2	WASHC4	DMD	MAG	CIC	GLI2	SYNGAP1	MFN2	HCN1	GUCY1A1	SEMA4A	ACSL4	SMARCB1	DDC	SELENOI	PRDM8	MTFMT	VPS11	GAN	TPP1	RETREG1	SETBP1	SUFU	EPHA4	SHH	DDHD2	REEP1	PRNP	PMS2	ZNF592	MED12	ERCC4	NDUFA6	COQ2	PQBP1	XPC	GRIA4	CFH	NODAL	AFF3	TGFB1	RSRC1	HSPG2	DPYD	PAX6	SOX2	GDF6	VCP	PRPH	GMPPB	PIK3R5	TGFBR3	TAF15	NTRK2	FGF17	HSD17B10	ENG	MT-TS2	NDUFV2	UBAP1	PHGDH	UGDH	KMT2B	PAFAH1B1	MYORG	STXBP1	ALG13	TAF1	BAZ1B	ATM	RFT1	NEU1	SLC12A2	ARX	FAM126A	HNRNPA1	DCX	AP4S1	MT-ND5	PON2	ABCC8	MRAP	PANK2	MT-TV	ALDH3A2	ATP13A2	BSCL2	FUS	NDUFS2	KRAS	BTD	KDM5B	TMEM106B	GRIK2	HTRA2	TRAPPC12	PRUNE1	CRADD	OPA1	MRPS22	WDR45	UPF3B	B4GALNT1	RPS6KA3	TANGO2	MOCS2	SEC31A	ADSL	ABHD12	PEX16	NDUFA8	SLC25A15	FUZ	MAN1B1	ARF1	SPG11	FOXG1	PDYN	AAAS	NSD1	ANKLE2	EARS2	NDUFS1	UNC13A	WDR73	FUCA1	ERCC2	EIF2B3	MC2R	TOE1	CLIP2	FAS	GTF2IRD1	RAB27A	VPS13C	OTUD6B	ATXN10	CCDC88C	RAD50	RNU4ATAC	HCFC1	DALRD3	TBC1D24	SACS	TSEN54	POLR3K	FRMPD4	PARK7	AP4B1	MT-ND3	CDH15	FXN	GTF2I	CEP290	CTLA4	TIMM8A	ATXN3	NPPA	ACAT1	PAX3	SZT2	AP2M1	BAP1	SATB2	HLA-B	NHLRC1	MPLKIP	LAMB1	LIAS	MT-TH	SPP1	MCCC1	RANBP2	FOXRED1	FOXH1	SURF1	ADA2	RASA1	NADK2	KY	FA2H	FDX2	SMC1A	TDGF1	ABCC6	CAMK2B	ARHGAP31	DLD	MTOR	TUBG1	SLC1A4	SNCA	RPS20	ZNF335	ZMYND11	NTNG1	ZEB2	L1CAM	IRF2BPL	NDUFS4	CACNA1A	TRAPPC2L	ASH1L	CHD7	AFG3L2	LYRM7	IQSEC2	C19orf12	AP4M1	HNMT	GJA1	TH	SUOX	MT-CO2	FLRT3	AUTS2	PRDM16	NAGA	RAB18	VPS53	PROKR2	SCN1A	CYP2U1	CWF19L1	NDUFAF3	GRIN2B	NDUFS8	TLR3	SAMHD1	HEXB	SPTLC1	ERLIN2	RERE	KCNJ6	DNM1L	NSUN2	TLR4	SIL1	EEF1A2	TGFBR2	PRPS1	KCNA2	WWOX	TMTC3	SLC25A46	EIF2B5	CPT1C	CLDN11	MT-CO1	NTNG2	FOXP1	ADD3	CCDC141	SIK1	TBC1D20	DYNC1H1	PPP3CA	NEK1	PI4KA	PODXL	ATRX	GRM7	GBE1	NR2F1	GLRA1	SCYL1	APOE	MARS1	PPARGC1A	PRSS12	MMUT	VPS13D	IFNGR1	PMPCA	VPS41	LAGE3	ITM2B	COASY	GRIA2	DNM1	PRTN3	BMPR1A	GPT2	RPGRIP1	PDHA1	FAN1	GJB1	HLA-DPB1	CSNK2B	MTTP	TMEM222	KIF2A	NEXMIF	FLNA	GRIN1	SLC13A5	SATB1	DNAJC3	RNASET2	AIMP1	SDHAF1	IL23R	ELOVL4	SETX	BCS1L	PRRT2	ERBB4	PHYH	AP3B2	SARDH	PPOX	GATAD2B	CIT	MLXIPL	TMEM67	ADAM22	NEUROD2	DNAJC6	GRN	CNOT1	SRPX2	ZC3H14	FARS2	TSEN2	CFHR1	MT-CYB	GRM1	ZNF41	TYROBP	NOP56	CYFIP2	TACR3	LARGE1	FTSJ1	OPTN	BEAN1	STAR	SLC12A6	CACNA1S	DOCK8	NDUFAF5	TMEM231	SARS1	C9orf72	HADHB	MT-TL1	NUS1	NF2	STN1	CCT5	DLAT	DLL1	KIDINS220	UBE4B	THSD1	SCN8A	SLC20A2	KIF5A	IDUA	SUZ12	NHLRC2	HUWE1	CNKSR2	DARS2	ERCC6	AKT1	AP1S2	BCAP31	WDR26	CHMP1A	MTPAP	KIF5C	GUCY2D	FAR1	ATXN8OS	TSEN34	MBD5	SAMD9	SLC5A6	UBTF	NNT	CAMK2A	SEPSECS	CUX1	KIRREL3	POLR3B	CTC1	GPHN	DHPS	MBOAT7	TBC1D23	MMP23B	SOX3	NUBPL	MT-CO3	TDP1	AGA	GTF2H5	AMPD2	CRBN	PMPCB	DAO	PCYT2	NAA10	GNAO1	ACER3	ADPRS	SPR	MPZ	TRIM8	TNIK	SPEN	NDUFAF6	POMT1	HTT	ANG	TGM6	ZFYVE27	ATP6AP2	ZIC2	EXOC8	PUM1	HESX1	CLN5	CLCN3	NUP133	GLT8D1	CNTNAP2	STX1A	SLC25A10	LIPT1	ATL1	TRAK1	ADAR	HINT1	DHCR24	ZFR	CAPN1	MINPP1	UFC1	SPTBN2	GTF2IRD2	DARS1	HLA-DRB1	MT-ND2	FGF12	CACNA1D	LUZP1	GUF1	TRMT10A	RRM2B	KLRC4	EZH2	TTR	LMNB1	PIGA	SHMT2	SOX4	TREX1	CARS1	GABRD	SKI	MT-TQ	SPRY4	CAMTA1	KANK1	WDR4	DNMT1	SLC25A22	MTO1	NEMF	AP1G1	TBP	KCNQ2	SLC6A3	IL12A-AS1	UNC80	DCPS	MT-TE	STUB1	MACF1	EXOSC3	CKAP2L	SUMF1	L2HGDH	PNP	NF1	EIF4H	MTHFR	TTC26	TPI1	ERAP1	CTSD	TECPR2	POLR3A	FGFR1	CASK	MT-ND1	SLC18A2	PCLO	SERAC1	ATP7A	IFIH1	RNU7-1	DPYS	KATNB1	SNX14	TPRKB	MT-ATP8	FMN2	POU3F3	ALG3	STIL	HS6ST1	COPB1	SPTBN1	KARS1	TUBB4A	PTCH1	SPG21	MRE11	COPB2	DEAF1	PEX3	TUSC3	MARS2	TMEM63A	METTL27	TRAPPC4	GABRB2	NPC2	BCOR	LCA5	USP9X	LRRK2	SP110	DHDDS	PRKN	GCH1	TMX2	USP45	BDNF	NDUFA13	NDUFA4	ATXN7	VPS4A	ELN	SAMD9L	SLC1A2	LIPT2	MAN2B1	AARS1	SNORD118	B3GALNT2	MSH2	ATAD1	NDUFAF2	FKBP6	TPP2	DOCK6	ACTL6B	MT-TK	PDCD1	SLC33A1	ERLIN1	POMK	ZFYVE26	GOT2	PEX10	PCDH12	NDUFA12	ANK3	MSL3	BCL11B	GFM1	VPS37D	PEX14	RNF13	C4A	RARS1	UCHL1	PTS	HPRT1	NEFL	ST3GAL3	SIGMAR1	TNR	ANXA11	PIGU	DLL4	KIF11	CCNF	MED23	PARS2	PSAT1	PTEN	SLC30A10	GABBR2	RNASEH2A	COX15	ACP5	SVBP	PEX1	BCAS3	TRIT1	NOVA2	PET117	RFC1	SMARCAL1	CHD2	OSTM1	PIGN	PRKCZ	THG1L	HNRNPA2B1	POLR1C	WARS2	NEFH	CTDP1	UGP2	GPAA1	GLRB	PHACTR1	ELP2	EML1	UBAC2	LINGO1	TTBK2	AIPL1	AP5Z1	DKK1	HLA-DQB1	PDGFRB	UBE4A	INPP5K	PIGQ	TSEN15	NBEA	FDXR	PDPN	TP53RK	NOTCH1	LRAT	CCR1	NDUFB8	TSPAN7	LINS1	TTC19	EZR	PAH	PTPN22	CFAP410	IL1RAPL1	GAD1	HSD17B4	GSX2	MED17	AMACR	DDB2	CELF2	APC2	COA8	SDHB	KCNT1	NMNAT1	PEX12	KLC2	MYO5A	CTSF	OCLN	CLN8	POMT2	GSS	HEPACAM	WDR45B	GABRG2	EPRS1	RBM28	SLC25A12	TXN2	CFHR3	SLC45A1	MED13L	PNPLA8	KCNQ5	DENND5A	RPIA	HACE1	MT-ND4	ALKBH8	COX20	SLC35A2	RORA	KCNA4	PEX26	COL4A2	ALG11	OTX2	IQCB1	SYNE1	GFAP	PTCHD1	SON	BRSK2	WDR62	GRIA3	TAOK1	NDUFS3	MOCS1	CYB5A	KCNC3	EXTL3	ARSI	SPART	TSC1	SLC12A5	NAXE	TREM2	CLIC2	GIPC1	DPM1	NCF1	MRPS34	SCN3A	MAPK8IP3	WDR48	PCYT1A	NDUFS7	NDNF	RDH12	MLC1	CACNG2	GTF2E2	MT-TP	MT-TI	EIF2S3	ARL6IP1	JAM3	NACC1	YWHAG	C12orf4	KDM5C	CA2	AKT3	PRICKLE1	EED	RHOBTB2	EIF2AK2	MEOX1	SCN5A	ARHGEF6	BCL7B	GCDH	TRPM3	KCNB1	KCNJ18	HLA-DPA1	MDH2	TNFRSF11A	COL3A1	TSPOAP1	TRMT5	FBLN1	LMAN2L	GRIN2D	IKBKG	EIF2B1	SPATA7	EIF2B4	FBXO7	GFM2	CLIP1	PRICKLE2	MLH3	ENPP1	PON1	SLC6A1	DNASE1L3	RFC2	SLC17A5	NDUFA9	DLG3	CARS2	CRX	ISCA1	PPT1	CDC40	FKRP	NAA20	TULP1	COQ5	TECR	FBXO31	DMXL2	CNTNAP1	EXOSC8	RAB39B	LRPPRC	NFASC	ADARB1	SLC2A3	PTPN23	COL4A1	AGTR2	PLCB1	METTL23	ANGPTL6	EDC3	EXOSC9	PEX19	ACOX1	PPIL1	RLIM	NDUFA2	TUFM	ATP6V0A2	COQ8A	SDHD	PAK3	CACNA1E	TTPA	C2orf69	WDR11	EOGT	MRM2	RPE65	NDUFAF4	IRF4	IFT140	PMP22	PIGC	USP8	BOLA3	RARS2	CTSK	GDAP2	GDI1	LIMS2	HADHA	LIMK1	MECR	INTS8	SPOP	GLE1	SIX6	FEZF1	LMX1B	SLC9A7	SMO	TBCE	NDUFV1	CDK19	NUP107	CTNNB1	ERCC1	IQSEC1	MCOLN1	MEFV	METTL5	MED12L	SEMA3A	CPT1A	EPM2A	B3GALT6	SCN4A	TUBB3	CYP26C1	NOTCH2NLC	TCF4	WT1	SYP	IL17RD	PEX2	VPS37A	ACP2	CACNA1B	TTC5	EPB41L1	ANOS1	TBL2	DYM	ASNS	EXOC2	TSC2	THOC2	EEF2	TMEM270	IL10	HIVEP2	RD3	LRP4	NAGS	PMS1	UFSP2	MID2	ATP2B3	NDST1	OPHN1	RNF113A	CASZ1	AARS2	COLGALT1	STEEP1	COX8A	MSH6	MFSD2A	TP53	SLC6A8	ATP6V1E1	NPC1	CRB1	ABCB7	AGTPBP1	ZC4H2	TPK1	ALG9	PIGP	RBPJ	NDUFC2	GNAQ	DNAJC19	NARS2	BCAT2
HP_ABNORMAL_RAPID_EYE_MOVEMENT_SLEEP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RAPID_EYE_MOVEMENT_SLEEP	TNFSF4	P2RY11	SIM1	YY1	MOG	HLA-DQB1	HLA-DRB1	ZNF365	CTSH	HCRT	COQ2	MAGEL2	MEN1
HP_IMPAIRED_VIBRATORY_SENSATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_VIBRATORY_SENSATION	VAMP1	SACS	PLOD1	POLG	MT-TE	CADM3	PI4KA	GCH1	ABCD1	TPP1	HAX1	PMP22	WASHC5	KCND3	TWNK	FLVCR1	SAMD9L	FMR1	CYP7B1	FLRT1	SAR1B	ERBB3	BEAN1	ATXN1	WDR48	VCP	JAG1	KIF5A	UBAP1	ALDH18A1	DDHD1	MORC2	CHCHD10	KLHL9	CPT1C	SLC25A15	REEP2	ATL1	HARS1	KPNA3	HSPD1	NEFL	SPG7	KCNC3	LRSAM1	NIPA1	GBA2	PDK3	SYNE1	HINT1	ATP13A2	FAR1	SLC33A1	ATXN2	VPS13A	DHH	HK1	ERLIN2	SORD	SPTLC2	DCAF8	ATXN8OS	MAG	SPART	RTN2	SPTBN2	DARS2	SCO2	SPG11	C19orf12	B4GALNT1	SPAST	SH3TC2	GDAP1	BSCL2	VPS37A	CACNA1G	MTTP	TDP1	FXN	LMNB1	PDYN	POLR3A	PLEKHG4	SETX	ATXN3	MFN2	FGF14	MT-ATP6	PRKCG	NEFH	ARSI	ZFYVE26	PEX6	KLC2	GARS1	REEP1	MPZ
HP_SPASTIC_ATAXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTIC_ATAXIA	DARS2	AFG3L2	VAMP1	KIF1C	SPG7	MARS2	CACNA1G	SACS	MTPAP	TBCE	TUBB3	MMADHC	PRDM8	TANC2	HTRA1	GLRX5
HP_SPINOCEREBELLAR_TRACT_DEGENERATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPINOCEREBELLAR_TRACT_DEGENERATION	ATXN3	ATXN1	ATXN2	GCLC	TDP1	MAN2B1	PLP1	GJB1
HP_LOSS_OF_AMBULATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOSS_OF_AMBULATION	DYSF	FKRP	VPS13A	GALC	GLRX5	HK1	HSD17B10	GIPC1	PLEC	TWNK	GFM2	NTNG1	DNAJB6	DARS2	CLN3	VPS16	MYOT	SDHB	SDHA	RRM2B	GMPPB	NOTCH2NLC	NUP62	POMT2	SUCLA2	CRAT	TK2	FARS2	SLC39A14	KLHL9	RNASEH1	JAG2	SMC1A	REPS1	ADAR	BVES	DES	SDHAF1	CRPPA	MAPT	FA2H	MT-ATP6	LRP5	ERBB4	GDAP1	VAC14	POMT1	SDHD	GABBR2	FAM126A	CDKL5	AP4S1	HINT1	LARGE1	SLC9A6	ALDH18A1	MECP2	NEU1
HP_DIFFUSE_CEREBRAL_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFUSE_CEREBRAL_ATROPHY	PNKP	GLB1	DMXL2	CARS2	PRKAR1B	TRIM8	KCNA1	HSD17B10	BTD	TMEM67	COG2	PMPCA	DNM1L	NEUROD2	CASK	CDKL5	SCN1B	GALC	GRIN2A	MED17	PIGQ	RARS1	ATP13A2	TBCD	SCN2A	FMR1	UQCRC1	PIGP	ATP6AP2	VPS16	SIK1	FDXR	COG5	SLC25A22	PSAP	TBP	FARS2	CTSF	GRM7	GNAO1	DCDC2	TBC1D24	ARX	HTRA1
HP_SEMILOBAR_HOLOPROSENCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEMILOBAR_HOLOPROSENCEPHALY	SMC1A	ZIC2	TGIF1	CNOT1	SEC31A	PTCH1	STAG2
HP_LIMB_HYPERTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_HYPERTONIA	WWOX	SPATA5	ASXL1	SYNGAP1	MTRR	PLAA	HK1	FA2H	ADCY5	USP8	KIDINS220	SRPX2	CELF2	TSEN2	SLC1A2	PRPS1	EEF1A2	ERCC8	SCN3A	KCNA2	SDHB	LBR	GRM7	SDHA	AARS1	KDM1A	WDR48	NTRK2	SZT2	NCAPD3	PPP3CA	COG4	KDM5C	FGF13	DNAJC12	GRIK2	SLC16A2	ATP6V1A	PCCB	CLDN11	WARS2	NUS1	TARS2	GABRA2	ATL1	ACTL6B	TRAK1	GABRG2	SCN8A	SPG7	KAT6A	PI4KA	GCH1	ATP1A3	CDK19	YWHAG	FAR1	MINPP1	NDUFA9	UBTF	RNU7-1	AP3B2	ERCC1	SLC33A1	ARV1	KATNB1	CYFIP2	SLC25A19	RHOBTB2	PCCA	TSEN34	SLC13A5	GFM2	FGF12	DNM1	ATP1A2	GABRA5	RARS1	TSEN15	CACNA1A	KCNB1	HCN1	EMC1	SEPSECS	DDC	SYNJ1	DHPS	SLC35C1	VPS37A	FRMD4A	SLC6A3	POLR3A	CNKSR2	PARS2	ALG11	EBP	UBA5	ADGRG1	NECAP1	CLTC	ATRX	SLC30A9	CACNA1B	TSEN54	SPR	SDHAF1	DHDDS	ALDH18A1	PNPT1	GNB1	SDHD	GABRB2	NDUFC2	BRF1	MTPAP	ARSI	GRIN2D	PYCR2	DALRD3	PIGP	ERCC6
HP_SPASTIC_TETRAPLEGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTIC_TETRAPLEGIA	GRIN1	YIF1B	UNC80	MECP2	PDHX	ALS2	NDUFAF4	CNPY3	NALCN	CLIC2	COG2	AUH	TMX2	ADAR	GSX2	SEPSECS	SRPX2	APC2	PLA2G6	RANBP2	HSD17B10	OSTM1	PET100	PHGDH	CLN8	SYNJ1	SLC16A2	LIAS	SCN3A	RAB18	WARS2	COASY	ARSA	STXBP1	SIX6	CDC40	CSF1R	ARX	SLC19A3	ADD3	SCN2A	COLGALT1	GOT2	TBC1D20	PI4KA	PCDH12	RNASEH2C	ATP13A2	MINPP1	CTNNA2	GLYCTK	IFIH1	RNU7-1	SPATA5L1	BCL11B	MCOLN1	KIF5C	SDHAF1	RNASEH2B	CNP	TUBA1A	SLC1A4	SOX2	TUBG1	SPTAN1	CYB5R3	MRPS22	WDR73	IBA57	SPTBN1	KARS1	AP4E1	TUBB3	PRDM8	AP4M1	TANGO2	MOCS2	SEC31A	DYNC1H1	COL4A2	FUCA1	ADGRG1	NDE1	SHMT2	KIF2A	TBCE	PPIL1	ANKLE2	GLB1	CACNA1D	DEGS1	VPS53	NDUFAF5	ELOVL4	KANK1	MOCS1	OTUD6B	CYB5A	RNASEH2A	SOX10	TREX1	GRIA4	ASNS	CACNA1E	SAMHD1	EXOC2
HP_ALZHEIMER_DISEASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALZHEIMER_DISEASE	GATA1	APOE	APP	ABCA7	CACNA1G	PLAU	MPO	NOS3	PSEN2	HFE	PSEN1
HP_BRAIN_STEM_COMPRESSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRAIN_STEM_COMPRESSION	TRAF7	FUZ	TERT	SUFU	DKK1	PDGFB	SMO	SMARCE1	SMARCB1	NF2	AKT1	FGFR3	BAP1	TNFRSF11A	PIK3CA
HP_CEREBRAL_CALCIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_CALCIFICATION	FAM111A	SUFU	MYO5A	MT-ND6	DKC1	RTEL1	ECM1	OPA1	FGFR1	KRAS	DNM1L	RNASEH2A	QDPR	ABCC6	TYROBP	TSC2	PDGFB	GNAQ	VPS33A	PSMB8	MT-TW	KATNB1	GATA3	GNAS	ERCC2	MYORG	JAM2	AMER1	MT-TH	KRIT1	PSMG2	CTC1	DDR2	GNA11	SLC20A2	MT-CO1	TSC1	MT-ND1	CLCNKB	SLC29A3	TREX1	CTSC	RNASEH2C	PTCH2	TERT	PAH	SC5D	IFIH1	RNU7-1	AP1S2	ERCC1	NSMCE3	PTCH1	CA2	RNASEH2B	HLA-DQA1	SLC12A3	NRAS	TREM2	CASR	ERCC8	NPM1	SLC46A1	CTNNB1	APP	SUCLA2	MT-TF	XPR1	NHP2	KARS1	FAM20C	COL11A1	MT-CO3	GJA1	MT-CO2	ERCC6	IFNG	OCLN	TCIRG1	ACD	MT-TL1	CYP2U1	SLC2A1	COL2A1	ERCC4	CPT2	SNRPB	PARN	SAMHD1	HRAS	PDGFRB	ADAR	ENPP1	USB1	ERCC3	ACP5	FARSB	SNORD118	MT-TS2	SLC25A46	STAT2	ISG15	MGP	ZBTB20	LSM11	MYMK	KL	AIRE	PTH	TINF2	USP18	COLGALT1	TERC	MT-ND5	ERCC5	TNFRSF11A	NOP10	BRAF	DENND5A	ATP7A	SLC26A2	RELN	SMARCB1	CTNS	HLA-DQB1	PEX6	ZNFX1	WRAP53	RNASET2	PEX1	DAG1	ODC1	MT-ND4	MT-TQ	ACVR1	NDE1
HP_WADDLING_GAIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WADDLING_GAIT	CANT1	COL12A1	TRAPPC11	CHKB	COL10A1	TPM2	ALPL	MYO9A	MBTPS1	AGRN	NEB	TMEM43	DAG1	COMP	SPEG	AP4B1	LMNA	RYR1	ACTA1	SLC6A17	SGCB	KLHL41	TRIM32	VAMP1	COL9A1	ALG2	DYM	MATN3	YY1	TGFB1	MYPN	COL2A1	SELENON	KBTBD13	MMP13	FKRP	MORC2	BICD2	SGCA	CHST3	PREPL	EMD	BIN1	DMD	SLC25A1	SLC5A7	HNRNPA2B1	MAP3K20	SLC26A2	GMPPB	LRP5	LAMA2	SPG7	SLC18A3	TRPV4	COLQ	DNAJB6	SYNE2	VCP	SNAP25	COL13A1	COL6A2	GFPT1	COL6A3	IDH1	POMT1	DPAGT1	HNRNPA1	SLC34A1	DEAF1	DPM3	COL9A2	LTBP4	SYT2	LAMB2	MYH2	DYNC1H1	SMARCAL1	POC1A	LMOD3	CHAT	TTN	CFL2	SGCG	MYH7	HACE1	AP4S1	FHL1	NEFL	ANO5	NOG	CCN6	PLEKHG5	FN1	DSTYK	ACBD5	SLC34A3	COL9A3	SLC39A13	SYNE1	MYOT	AP4E1	COL6A1	AP4M1	DOK7	PTH1R	IFIH1	ACAN	FLNC	NEFH	ASAH1	TPM3	FGD4	UFSP2	ALG14
HP_INCREASED_INTRACRANIAL_PRESSURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_INTRACRANIAL_PRESSURE	IL12A-AS1	SEC23B	IL12A	ALX4	FGFR2	IRF4	IFT172	ERF	MLH3	KIAA0586	TLR4	APC	FGFR3	TGFBR2	CTSK	KRIT1	IL10	PSAP	PRKAR1A	ANTXR1	MSH2	BAP1	HLA-B	KRAS	PMS1	ERAP1	SMARCE1	NF2	TWIST1	LRP5	MLH1	PDE4D	TRAF7	ELMO2	PDCD10	SMO	KLLN	GALK1	PRF1	STAT4	UBAC2	AKT1	SDHD	DKK1	TCF12	VHL	IFNGR1	MEFV	NLRP3	MSH6	CASR	RPS20	CTNNB1	SDHC	BRAF	L1CAM	C4A	PTEN	GALC	BMPR1A	SEMA4A	SMARCB1	FAN1	KLRC4	GNA11	SUFU	ZIC1	SOST	PIK3CA	EPCAM	CCR1	PMS2	CSPP1	CCM2	IL23R	SDHB	TERT	PDGFB	FAS	USF3
HP_ABNORMAL_PERIVENTRICULAR_WHITE_MATTER_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PERIVENTRICULAR_WHITE_MATTER_MORPHOLOGY	RFWD3	EOGT	FKRP	OPA1	CPLX1	FGFRL1	RTTN	TBCK	TSEN54	HK1	DPM2	DNM1L	AP4B1	CDC42	DDHD2	SEPSECS	SUMF1	USP7	PDHX	LIPT2	PSAP	CTBP1	LARGE1	TREX1	PC	ARSA	CYP27A1	GMPPB	PAK1	CLN5	ERCC3	MTHFR	PRR12	MPLKIP	GM2A	MORC2	AMPD2	TRMT1	ODC1	RPL10	ISCA2	HIKESHI	ARHGAP31	DOCK6	NRROS	CSF1R	FARSA	PUF60	LMX1B	RNF113A	SON	GTF2E2	LAMA1	AARS2	STRADA	EDEM3	FA2H	ATP13A2	ACTA2	CNTNAP2	ARID2	SPATA5L1	AP5Z1	CA2	CNP	DPM3	WARS2	CNKSR2	SHANK3	LETM1	PDHB	TET3	GALC	AP4S1	SPG11	RAC1	LYRM7	PDHA1	SELENOI	MMACHC	SSR4	VPS11	DLL4	POMT2	TMEM222	GTF2H5	ABCD1	NOTCH1	STXBP1	TARS1	AP4E1	GNB2	AP4M1	DEGS1	MEF2C	UBA1	CLCN4	LONP1	POMT1	ALDH18A1	RBPJ	ERCC2	NDUFC2	NSD2	BRF1	SUGCT	ACP5	ACTL6B	OCRL
HP_HYPSARRHYTHMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPSARRHYTHMIA	DCPS	CNPY3	PIGA	NCDN	CDKL5	NEUROD2	TRIM8	CCDC88A	MED25	DOCK7	PIGC	ZC3H14	SCN2A	KCNQ2	ZNHIT3	SCN3A	CYFIP2	KCNT2	ATP6V1A	TUBB2A	NTRK2	SZT2	NHLRC1	TRAPPC9	PIGW	FGF13	SARS1	IER3IP1	PHGDH	KCNB1	NUS1	GABRA2	SCN8A	PHACTR1	SIK1	NEXMIF	CUL3	ST3GAL3	DCX	ATP1A3	CDK19	YWHAG	DPAGT1	DOLK	C12orf4	GLYCTK	GNAO1	AP3B2	GABRB1	CC2D1A	ARV1	IQSEC1	TIMM50	SMC1A	SLC35A2	NACC1	UPB1	FMN2	SLC1A4	AIMP2	SPTAN1	PIGQ	EPM2A	ATP1A2	FRRS1L	CACNA1A	HCN1	SPTBN1	SYNJ1	EEF1A2	MBOAT7	PLCB1	HNMT	ARX	SETBP1	UBA5	KCNA1	ERMARD	MGAT2	CRBN	GRM7	CACNA1B	TTC5	SLC25A22	ABCC8	CUX2	LINS1	TUSC3	NPRL3	LMAN2L	LONP1	KCNJ11	GABRB2	ALDH7A1	GRIN2B	UBE4A	NSUN2	HMGCL	GRIN2D	EZR	MFF	ASNS	PIGP	WWOX	TGFB1	RSRC1	ALG3	TNIK	GAD1	SYNGAP1	GFM2	PLAA	CLIP1	MED17	ALG13	HCFC1	CELF2	SLC1A2	APC2	WASHC4	EXOC8	KCNA2	NPRL2	PGAP1	ARFGEF2	AARS1	GNB5	PPP3CA	UGDH	UFSP2	PAFAH1B1	NDST1	STXBP1	SPATA5	ACTL6B	HIBCH	TRAK1	NAA20	ROGDI	GABRG2	TECR	FBXO31	SLC12A2	DNM1	GUF1	WDR45	PNKP	DMXL2	SLC45A1	MPDU1	PRSS12	B3GALNT2	PTPN23	PLPBP	SLC13A5	KDM5B	CASK	GRIK2	SCN1B	TRAPPC12	CRADD	ATAD1	KIF1A	FGF12	IARS2	GABRA5	SLC39A8	PTS	METTL23	ALKBH8	ALG2	AIMP1	PDHA1	NDUFAF8	EDC3	CNKSR2	MED23	PARS2	MAN1B1	NECAP1	CLTC	SATB1	DEPDC5	NF1	DHDDS	ALG14	MDH1	COX4I1	NEMF	AP1G1	CACNA1E	DALRD3	GABBR2
HP_AREFLEXIA_OF_LOWER_LIMBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AREFLEXIA_OF_LOWER_LIMBS	SACS	DYSF	VPS13A	LIFR	HARS1	BIN1	RAI1	DNM2	CADM3	MRE11	SBF2	ATP6AP2	RRM2B	FXN	NEFL	PMP22	ORAI1	STIM1	C19orf12	PRPS1	VCP	JAG1	GJB1	HSPB3	GAN	PGM3	OPA1	SLC25A4	KLHL9	RNASEH1	SQSTM1	TWNK	POLG2	PLEKHG4	DNAJC3	MYOT	ATXN3	MYF6	OPA3	MAG	DES	MFN2	ERLIN1	TCAP	GNE	HSPB1	ALDH18A1	MTMR14	SMN1	ARL6IP1	POLG	PDK3	ACOX1	RYR1	HINT1	HSPB8	SMN2	GLE1
HP_CATAPLEXY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CATAPLEXY	MOG	NPC1	TBCD	TNFSF4	P2RY11	NPC2	HLA-DQB1	DNMT1	HLA-DRB1	ZNF365	CTSH	HCRT
HP_FALLS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FALLS	NKX2-1	MAPT	SACS	VPS13A	PRKAR1B	CHD2	NOL3	TTN	DMD	ATP6AP2	GNB2	DNM1	CACNA1A	POPDC3	FA2H	ALDH18A1	LRAT	DAB1	FXN	MAPK10	SCN1A	PTS	SLC25A21	ORAI1	CUX2	SPTBN1	GABRB3	ATP13A2	ACBD5	FAR1	SDHB	GAN	PDE2A	DYNC1H1
HP_NEURONAL_LOSS_IN_CENTRAL_NERVOUS_SYSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEURONAL_LOSS_IN_CENTRAL_NERVOUS_SYSTEM	ATXN8OS	PSEN1	ZNHIT3	NR4A2	MAPT	PIGA	CSF1R	PDYN	CTSD	ATXN2	PRNP	ADH1C	FUS	BSCL2	GRN	DNMT1	MT-TT	GBA	NPC1	VAPB	TBCD	GLUD2	HTT	PSAP	PLA2G6	SNCAIP	C9orf72	POLG	KCNT1	TBP	SERPINI1	SLC9A6	NARS2	CHMP2B	FIG4	BRAT1	VAC14	SCO2
HP_AXIAL_DYSTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AXIAL_DYSTONIA	MAPT	SPG11	ALS2	SPTLC1	HPDL	SIGMAR1	COQ2	CIZ1	FUS	COL6A3	GNAL	PPP2R2B
HP_ABNORMAL_POSTURING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_POSTURING	TOR1A	PRNP	EPG5	AOPEP	TIMM8A	ABCD4	PANK2
HP_ABNORMAL_CORTICAL_GYRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CORTICAL_GYRATION	FKTN	DCPS	CACNA1I	CEP120	B3GALNT2	NCDN	RTTN	MACF1	CDK5RAP2	CCDC88A	CDH15	SNRPN	SCN2A	ACTB	PEX3	LMNB1	CEP41	MAPK8IP3	DAG1	DOCK6	TMEM67	TUBB2A	SIX3	PNKP	AHI1	EXOSC5	CTU2	KATNB1	CEP63	LAMB1	FH	PTCH1	ARHGAP31	WDR4	TPRKB	ERBB4	SMARCA4	MYT1L	NSDHL	CACNG2	STIL	BICD2	PAFAH1B1	LAMA2	FRAS1	C12orf4	CTNNA2	GNAO1	CC2D1A	PHGDH	CLP1	RAC1	AKT3	GMNN	CAMK2B	RECQL4	SMARCB1	EIF2AK2	TUBG1	FMN2	CRPPA	GRIN1	TCTN1	ZMYND11	ATP6V1A	ZEB2	WDR73	TRPM3	DLL1	PEX6	ASH1L	KIAA0586	IBA57	ARID1A	NODAL	FKRP	COL4A1	COPB2	DHX37	HNMT	WDR26	CHAMP1	RMND1	POMGNT2	PEX12	SOX11	DEAF1	MAGEL2	NDE1	KCNA1	NPHP1	WDR62	ARID1B	ZIC2	KIF14	RAB18	TSEN54	TUSC3	MTOR	WT1	LMAN2L	SUFU	RNU4ATAC	LMNB2	CPT2	PPP1R12A	TGIF1	NSUN2	FAT4	STS	MAP1B	FTO	TCTN2	PEX16	FIG4	OCA2	ATP6V1B2	DYNC1I2	VPS33B	GFM2	PEX10	PLAA	PIK3R2	POMGNT1	TP73	TMX2	CLIP1	PIK3CA	PRICKLE2	TRRAP	VPS4A	RAB3GAP1	USP9X	CENPJ	C2CD3	POMT2	CIT	WASHC4	NPRL2	PGAP1	CAMK2A	NDN	TMTC3	POMT1	TDGF1	INPP5E	TUBGCP6	MCPH1	ADAMTS3	PPP3CA	PEX26	PIGB	CEP104	ISCA1	SMPD4	CASK	ATR	CDC40	SET	SMARCD1	NAA20	GLI2	ETFB	SON	TECR	FBXO31	POMK	MICU1	USP18	SIK1	TBC1D20	DYNC1H1	PI4KA	PLP1	GRM7	TRAIP	KDM5B	DMXL2	FLI1	SETD1B	PEX14	PRSS12	DISP1	LAMC3	TUBA1A	PYCR2	CCND2	LAGE3	SPOP	SCN1B	ASCC1	TUBGCP2	KIF11	TUBB2B	SASS6	FDFT1	SMO	COG6	METTL23	ST3GAL3	PEX1	ARX	OSGEP	CRADD	CLTC	MKS1	DHCR24	COL18A1	MED27	PDHA1	RAB11A	CSPP1	ARL13B	EDC3	B4GAT1	MED23	PAX6	MECP2	SHH	CSNK2B	NARS1	TMEM222	ADGRG1	KIF2A	PSAT1	PTEN	PPIL1	DLK1	DEPDC5	TUFM	GPX4	ERCC1	YWHAE	ATP6V0A2	DISC1	PRKDC	ETFA	ANKLE2	SRPX2	CDK6	ATP1A2	GNB1	TUBA8	KAT5	YRDC	DONSON	ARID2	NEUROD2	TBR1	CEP85L	ETFDH	XRCC4	MED25	ASPM	VLDLR	PIGC	CDON	ZC3H14	TBC1D24	TSEN2	KIF1A	LARGE1	ACTG1	RXYLT1	VAC14	HSD17B4	TRAPPC9	CEP135	GAS1	SARS1	IER3IP1	ALG12	CENPE	PIBF1	CPLANE1	CDK5	PEX13	CDKL5	CEP152	AHDC1	KNL1	DCX	CUL4B	CCBE1	EXOC7	EML1	MPDZ	NUP107	EOMES	IQSEC1	KIF5C	SOX4	TBL1XR1	COL3A1	MED12L	METTL5	PLK4	SMARCC2	TSEN34	MBD5	SLC5A6	PIGQ	VIPAS39	CIC	FRRS1L	HYLS1	TSEN15	NBEA	PEX19	SEPSECS	CUX1	KIRREL3	TUBB3	GMPPB	MBOAT7	TCF4	TMEM237	B9D1	TP53RK	SMARCE1	CRBN	TRAPPC14	TTC5	EPB41L1	ATXN2	LINS1	NPRL3	LONP1	FGF8	SUZ12	UBE4A	EZR	ASNS	QARS1	RTL1	RSRC1	TUBB	TRIM8	TNIK	DCHS1	PEX11B	NFIX	GPHN	SNAP29	APC2	RAB3GAP2	HIVEP2	DPF2	OCLN	KATNIP	CBY1	PEX5	NUP133	UFSP2	KIFBP	SRD5A3	OFD1	NDST1	SCN3A	KIAA1109	GRIN2B	EEF1A2	MEG3	SLC12A2	MFSD2A	ERMARD	HIC1	ZNF335	TAF13	ZNHIT3	SLC45A1	SLC25A19	RPGRIP1L	ARMC9	GRIK2	KCNQ5	PDHB	ATP6V1E1	PEX2	ALKBH8	ARL3	AIMP1	DOCK8	ATN1	RELN	BMPER	POLR3A	COL4A2	FUZ	MAN1B1	PHC1	CSNK2A1	GPSM2	FOXG1	SHMT2	FOXH1	SF3B4	BRSK2	SYNGAP1	CAMTA1	TAOK1	NEK1	PIGP	ODC1	MN1	NCAPD3	SLC25A22	NEMF	AP1G1	MLYCD	KLHL15
HP_ABNORMAL_CEREBRAL_CORTEX_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CEREBRAL_CORTEX_MORPHOLOGY	NDE1	FKTN	NTNG2	DCPS	RTEL1	CACNA1I	B3GALNT2	NCDN	RTTN	STUB1	MACF1	CDK5RAP2	SNRPN	PEX3	CHCHD10	CEP41	VCP	TSC2	TMEM67	MED27	EIF4H	ERCC3	SIX3	PNKP	EXOSC5	CTU2	KATNB1	ERCC2	FH	PTCH1	TUBG1	POLR3A	WDR4	ERBB4	MYT1L	TBCD	NSDHL	CASK	MT-CO1	STIL	SPG7	TSC1	BICD2	MT-ND1	EMC10	DOCK7	FRAS1	TERT	CTNNA2	GLYCTK	SMC3	CC2D1A	CLP1	PTPN23	RAC1	TRIP12	SQSTM1	PSEN1	SNX14	GMNN	TPRKB	PUS3	ERCC1	SMARCB1	FMN2	CRPPA	SIN3B	ATP6V1A	MT-TF	PEX6	TOMM40	IBA57	NODAL	FKRP	AP4E1	CPLX1	COPB2	DHX37	FBXW11	WDFY3	MAPT	TCF20	CHAMP1	RMND1	PEX12	DEAF1	MAGEL2	KCNA1	SCYL2	TARS1	WDR62	ARID1B	GABRA5	RAB3GAP2	TSEN54	CSPP1	TUSC3	GABRD	BCORL1	RLIM	WT1	MT-TL1	SUFU	MARS2	METTL27	RNU4ATAC	ALDH18A1	DHCR7	PPP1R12A	PIGN	TGIF1	NSUN2	GRN	DYRK1A	STS	FTO	TCTN2	PEX16	FIG4	OCA2	DYNC1I2	SCN1A	ADGRG1	KDM6A	RAD21	PLAA	PIK3R2	POMGNT1	TMX2	PIK3CA	VPS4A	ELN	RAB3GAP1	C2CD3	LIPT2	MAN2B1	CIT	VARS1	TDGF1	INPP5E	KMT2E	CHMP2B	TUBGCP6	MCPH1	ADAMTS3	KIF14	PPP3CA	PEX26	FKBP6	PIGB	NDN	CEP104	BRD4	TBK1	RAB18	PIGL	HPDL	GBA	DGUOK	SET	SMARCD1	SPATA5	GLI2	POMK	MICU1	USP18	HCN1	BUD23	GBA2	DNAJC30	MBTPS2	SCN9A	TCF7L2	PUS7	FLI1	VPS13A	SETD1B	PEX14	DISP1	LAMC3	TUBA1A	SYNCRIP	PYCR2	SCN1B	ASCC1	VPS37D	TUBGCP2	KIF11	TUBB2B	IARS2	FDFT1	AGO2	ST3GAL3	TCF4	B4GALNT1	OSGEP	MKS1	COL18A1	PDHA1	RAB11A	ARX	GON7	DYNC1H1	PAFAH1B1	POMT2	B4GAT1	CDH23	MED23	PAX6	MECP2	SHH	PGAP1	SPTBN1	PSAT1	PTEN	AP4M1	GPX4	YWHAE	PDE6D	DISC1	CLCN4	KAT8	SETD1A	ETFA	ACTB	CCND2	CDK6	RPS6KA3	ATP1A2	GNB1	TUBA8	PARS2	YRDC	MT-ND6	HDAC8	AKT3	TBR1	MTOR	CEP85L	NOVA2	ETFDH	VLDLR	DONSON	ABCA7	KDM4B	KIF1A	SCO2	TRAK1	TBC1D24	MMADHC	ACTG1	NIPA1	MT-TW	TRAPPC9	GAS1	ALG12	PEX7	PRKCZ	CENPE	DDX3X	CPLANE1	CTDP1	CDK5	UGP2	CDKL5	KNL1	PHACTR1	LRRK2	TNRC6B	LARGE1	CUL4B	DNAJC13	CCBE1	EXOC7	EML1	ADGRV1	BRAF	NUP133	TMEM70	XPA	COL3A1	METTL5	PLK4	KCNAB2	FGFR1	GRIN1	PIGQ	VIPAS39	CIC	FRRS1L	COG1	HYLS1	TSEN15	NBEA	PIGS	FDXR	ACTL6A	VPS37A	MT-CO3	HERC1	SETBP1	B9D1	PDPN	TP53RK	ERCC6	NDUFB8	MYO7A	SCN2A	ATXN2	LINS1	NPRL3	ERCC4	TMEM106B	LONP1	FGF8	SUZ12	UBE4A	EZR	XPC	GRIA4	SLC12A2	HS2ST1	ANKRD17	RTL1	PEX1	RSRC1	SRCAP	DLL1	HSPG2	ASPM	PEX11B	SATB1	NIPBL	DDB2	SPEN	KIAA0586	MAP2K1	SNAP29	APC2	WHRN	UBE3A	HSD17B10	KCNT1	GRM7	PC	MT-TS2	GMPPB	MYO5A	OCLN	KATNIP	PEX5	PHGDH	KIFBP	RXYLT1	MPLKIP	NIPA2	SIN3A	KIAA1109	BAZ1B	MEG3	PI4KA	TCTN3	DCX	MFSD2A	ERMARD	MT-ND5	NPRL2	ATP13A2	SLC45A1	KRAS	SVBP	RPGRIP1L	CEP152	KDM5B	PARN	CENPJ	DKC1	POMT1	GRIK2	TRAPPC12	PRUNE1	KCNQ5	CRADD	PDHB	PEX2	ALKBH8	C9orf72	SPG11	ARL3	SLC35A2	ATN1	WASF1	RELN	SLC35C1	TINF2	USH1G	COL4A2	NDUFA8	SLC25A15	FUZ	MAN1B1	GPSM2	FOXG1	ESPN	FOXH1	SF3B4	ANKLE2	BRSK2	SYNGAP1	PCDH15	WDR73	TAOK1	NEK1	DAG1	ODC1	CLIP2	MN1	CYB5A	NCAPD3	GTF2IRD1	TRAPPC6B	TREM2	VPS13C	KLHL15	CWC27	SACS	ZMIZ1	CEP120	TRMT1	DPM1	CCDC88A	FRMPD4	AP4B1	EMX2	CDH15	GTF2I	NCF1	LMNB1	ZNHIT3	DOCK3	MAPK8IP3	DOCK6	TUBB2A	WFS1	AHI1	CEP63	LAMB1	MT-TH	ARHGAP31	SMARCA4	CACNG2	GTF2E2	ACTL6B	LAMA2	DPYSL5	C12orf4	GNAO1	GNAQ	TUBGCP4	NEDD4L	CAMK2B	RHOBTB2	RECQL4	EIF2AK2	TCTN1	KCNMA1	ZMYND11	ZEB2	BCL7B	GABRG2	TRPM3	AP4S1	NDP	ASH1L	ARID1A	COL4A1	BPTF	HNMT	WDR26	POMGNT2	SOX11	GPKOW	NPHP1	MT-CO2	PIGV	PRDM16	POGZ	ZIC2	IFNG	FBLN1	HNF1B	LMAN2L	USH2A	PRNP	LMNB2	CPT2	NDUFAF3	CCDC32	FAT4	AMPD2	CDK13	MAP1B	SMC1A	CAMTA1	ATP6V1B2	EPG5	SNCA	VPS33B	GFM2	PEX10	RERE	CISD2	TP73	CLIP1	PRICKLE2	EHMT1	TRRAP	USP9X	RFC2	WASHC4	CAMK2A	TMTC3	UBR7	PRDX1	BICRA	GCDH	ISCA1	SMPD4	SLC39A4	TMCO1	BMP4	ERCC5	ATR	CDC40	NAA20	MEF2C	FUS	ETFB	SON	TECR	FBXO31	SIK1	EXOSC8	TBC1D20	PLP1	TRAIP	ADARB1	PPP2R2B	APOE	DMXL2	PRSS12	LAGE3	SPOP	GIGYF2	ATRX	SASS6	SMO	COG6	METTL23	CLTC	DHCR24	EIF4G1	RNF2	ARL13B	EDC3	NTNG1	CSNK2B	NARS1	TMEM222	KIF2A	NEXMIF	B3GLCT	PPIL1	CNOT3	DLK1	DEPDC5	TUFM	ATP6V0A2	PRKDC	SRPX2	MT-ND4	OTUD6B	AP1S2	RFT1	CACNA1E	KAT5	MLXIPL	PSEN2	ARID2	NEUROD2	TRIM8	ALG8	XRCC4	MED25	FA2H	PIGC	CDON	ZC3H14	TSEN2	PSMD12	MED13	SURF1	MT-ATP6	LIMK1	CLCN3	VAC14	HSD17B4	CEP135	SARS1	IER3IP1	PIBF1	PEX13	JPH3	UBE4B	AHDC1	CDC42	RNF125	APP	MINPP1	DPAGT1	MPDZ	NUP107	TANC2	EOMES	IQSEC1	KIF5C	SOX4	TBL1XR1	DDX6	MED12L	BCAS3	SMARCC2	MADD	TSEN34	MBD5	SLC5A6	CNKSR2	UBTF	PALS1	PEX19	SEPSECS	CUX1	KIRREL3	TUBB3	POLR3B	MBOAT7	MMP23B	TMEM237	GTF2H5	SMARCE1	CRBN	TRAPPC14	TTC5	EPB41L1	ACD	TBL2	MUC1	SORL1	CIZ1	ASNS	QARS1	MAF	TUBB	TNIK	DCHS1	ACO2	MVK	SPECC1L	OPHN1	TARDBP	NFIX	GPHN	TMEM270	FMR1	HIVEP2	MMACHC	DPF2	HTT	CLN5	ARHGEF9	CBY1	CPA6	UFSP2	CNTNAP2	SRD5A3	STX1A	OFD1	NDST1	SCN3A	GRIN2B	EEF1A2	RNF113A	TYROBP	POLG2	CASZ1	NUS1	LMBRD2	HIC1	SLC9A6	USH1C	ZNF335	TAF13	GTF2IRD2	CIB2	SLC25A19	ARMC9	TWNK	BCAP31	CYB5R3	ATP6V1E1	KMT2D	SLC39A8	HRAS	LUZP1	GUF1	IKBKG	AIMP1	VPS35	DOCK8	MAP2K2	BMPER	ALS2	PHC1	CSNK2A1	PIGA	SHMT2	NDUFS2	STX1B	SKI	HUWE1	PIGP	TRAPPC4	SLC25A22	NEMF	MT-TQ	AP1G1	PDZD7	MLYCD	JARID2
HP_CORTICAL_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORTICAL_DYSPLASIA	TSC1	RSRC1	TUBB	DLL1	DCPS	TNIK	SCN1A	ADGRG1	NCDN	ASPM	RTTN	TSC2	CLIP1	PIK3CA	MED25	PIGC	PTEN	ZC3H14	WASHC4	NPRL2	PGAP1	TUBB2A	HSD17B4	TRAPPC9	SARS1	UFSP2	CNTNAP2	DDX3X	NDST1	SIN3A	ARHGAP31	NAA20	TECR	FBXO31	SLC12A2	DEPDC5	HCN1	CUL4B	C12orf4	SCN9A	CC2D1A	ADGRV1	NUP133	IQSEC1	TUBB3	SCN1B	SLC45A1	NEDD4L	PRSS12	AKT3	KIF5C	B3GALNT2	COL4A1	KDM5B	GRIK2	MTOR	TUBG1	FGFR1	FMN2	SIN3B	CRADD	SNAP29	TUBB2B	FRRS1L	GABRG2	METTL23	ST3GAL3	ALKBH8	AIMP1	SLC35A2	MBOAT7	VPS37A	HNMT	EDC3	B4GAT1	MED23	FUZ	MAN1B1	KIF2A	STX1B	CRBN	GRM7	TTC5	SCN2A	LINS1	TUSC3	GABRD	NPRL3	LMAN2L	UBE4A	NSUN2	EZR	NEMF	FIG4	AP1G1	ASNS
HP_INABILITY_TO_WALK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INABILITY_TO_WALK	SLC12A5	FKRP	PTCH1	HSD17B10	ALS2	MT-TE	CDKL5	PGAP3	CAMK2B	GIPC1	TBR1	BCAS3	DNAJC6	PIEZO2	SHH	FXN	SLC6A17	SIX3	TBCD	KCNQ2	MRPS34	TIMM8A	DYSF	SLC25A4	TGIF1	SLC19A3	STAG2	MAPK8IP3	SDHA	ATP6V1A	UQCRQ	GABRB2	PYCR2	SLC39A8	VPS33A	MPZ	INTS8	EXOSC5	NUP62	SUCLA2	NHLRC1	ATAD3A	CRAT	CACNA1G	CHCHD10	GTPBP2	KLHL9	RNASEH1	GRIK2	VPS51	CTBP1	KIF1A	HTT	CDON	FOXH1	DLL1	AP4B1	MT-ATP6	GPAA1	LRP5	FGF8	LMX1B	RPL10	FGFR1	ZIC2	NEFL	TNPO2	PPP2R1A	GLI2	SMPD1	ST3GAL3	EIF2S3	ARL6IP1	DOCK7	LAMA2	TSEN15	LARGE1	DPAGT1	UBTF	SERAC1	CTNNA2	TDGF1	PLP1	SYNJ1	GLE1	SPTLC2	MTM1	TBCK	CHRND	GLRX5	HK1	SNX14	UBE4A	SLC1A4	ERLIN2	RHOBTB2	FLNC	EIF2AK2	SBF2	PLEC	GAS1	AIMP2	GRIN1	STRADA	ADSS1	NTNG1	EPM2A	DNAJB6	ZEB2	DARS2	STIL	TRAPPC2L	GEMIN5	MAST1	SMC1A	COPB1	MECP2	CAMK2A	PIGS	ASPA	TUBB3	CPLX1	SELENOI	CACNA1B	MDH2	TBC1D23	NOTCH2NLC	MYOT	TMEM107	POMT1	FUS	GDAP1	NDRG1	MSTO1	TRAPPC11	SCN1A	MBOAT7	HACE1	TK2	MTRFR	FARS2	NODAL	SLC39A14	MED25	STXBP1	SLC2A1	TELO2	DNM1L	SMS	REPS1	BVES	DES	SYT1	MAPT	MEF2C	DISP1	LONP1	ASAH1	VAMP2	MAGEL2	GRIA4	DYM	MFF	ALDH18A1	FCSK	ACTL6B	PIGP	FAR1	DYNC1I2	SPTLC1	NEB	ASXL1	SIGMAR1	GABRA2	ATP6AP2	GSX2	DPYD	PANK2	CLN3	NTRK2	LNPK	VPS16	SLC17A5	VARS1	DHX30	SDHB	NGLY1	ATL3	GMPPB	CLN5	MORC2	GRM1	CLN8	CELF2	ATL1	SCN3A	CLDN11	SPATA5	DCPS	CRPPA	FA2H	STAC3	NTNG2	ADAR	WDR45B	ATP8A2	ERBB4	HNRNPK	EPRS1	FAM126A	GOT2	AP4S1	TBC1D20	LRPPRC	DNM1	HINT1	PODXL	SLC9A6	P4HTM	SLC2A3	VPS13A	GALC	SPG11	TFG	LMNA	POMT2	VPS41	TWNK	FOXRED1	MFSD2A	SLC16A2	UNC80	GFM2	GRIA2	DMD	SLC1A2	CACNA2D2	LYST	PMP22	GEMIN4	KCNJ10	ASXL3	SLC35A2	PDHA1	RRM2B	FGF12	ATN1	INTS1	TNR	SH3TC2	SEC31A	ADSL	AGTPBP1	CLIC2	ABCD1	JAG2	TREX1	SATB1	NEUROD2	MFN2	SDHAF1	PPP1R21	VAC14	SDHD	GABBR2	TRIM2	OTUD6B	EXTL3	GNB1	CACNA1E	ZC4H2	NEU1	GNPTAB
HP_OLIVOPONTOCEREBELLAR_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OLIVOPONTOCEREBELLAR_ATROPHY	TTC19	ATXN1	ATXN2	ERCC6	COQ2	ATXN7	MBTPS2
HP_RETROCOLLIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETROCOLLIS	MAPT	SPG11	FUS	KMT2B	ALS2	SPTLC1	PRKRA	SIGMAR1
HP_INCOMPREHENSIBLE_SPEECH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCOMPREHENSIBLE_SPEECH	CC2D1A	FOXP2	FXN	SRPX2	SETBP1	GRIN2A	SATB2	GATAD2B
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	MAPT	POLG	PARK7	SNCA	PSAP	GCH1	TH	GBA	PLA2G6	GIGYF2	TAF1	UCHL1	ATP13A2	LRRK2	UQCRC1	PDE10A	EIF4G1	VPS35	DNAJC13	TK2	FBXO7	HTRA2
HP_ABSENT_FACIAL_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_FACIAL_HAIR	PHGDH	ZBTB20	SOX18	ODC1	TWIST2	EDA	TP63	RIPK4	LMNA	BRAF	KRT85	POLR1D	MTX2	GJB2	NECTIN4	POLR1B	RECQL4	MBTPS2	HOXC13	HR	DSP	ZMPSTE24	JUP	FRAS1	LRP1	ANAPC1	AR	POLR1C	TCOF1	CWC27
HP_HIGHLY_ARCHED_EYEBROW	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGHLY_ARCHED_EYEBROW	PIGG	NTNG2	COLEC10	TMEM237	ZMIZ1	HDAC8	SZT2	RAD21	CEP120	VPS35L	TRMT1	MKS1	TBCK	INPP5E	KDM4B	CDC42	BCOR	ACTB	CTCF	PSMD12	CTBP1	MED13	CEP41	DOCK3	CYFIP2	FOXL2	SPECC1L	KDM1A	MEGF8	RPS23	TMEM67	MED27	HDAC4	ACTG1	CLCN3	HSPA9	TWIST2	FAM149B1	CC2D2A	PIGW	NELFA	NUP188	AHI1	CTU2	PUF60	KMT2D	LETM1	PIBF1	MAN1B1	CPLANE1	UGP2	PTPRF	TCTN1	LMX1B	NSD2	SEMA3E	PACS1	PIGL	ACTL6B	NECTIN1	TNRC6B	CREBBP	CDH11	KAT6A	STRADA	TMEM216	EMC10	MADD	CRKL	COLEC11	DPYSL5	TAF6	TANC2	SMC3	TBX4	CLP1	PTPN23	RAC1	LRPPRC	TRIP12	SMC1A	DDX6	CEP290	BCAS3	FAR1	CPLX1	MAPK8IP3	KCNMA1	PALS1	PIGV	PIGS	KDM6A	CHSY1	CLCN6	FBXW11	WDFY3	ACTL6A	FAM20C	BPTF	ECEL1	TFAP2B	TCF20	NIPBL	TASP1	TOPORS	B9D1	TMEM94	NPHP1	STXBP1	AUTS2	CHD7	MEIS2	MAPK1	BCORL1	RLIM	KIAA0586	RPS6KA3	SLC45A1	TMCO1	CCDC32	ZEB2	MASP1	MYT1L	HS2ST1	ANKRD17	STAG2	KCNK9	SPEN	SRCAP	GAD1	ADAT3	FGFRL1	CAMK2G	ASPM	ESCO2	EHMT1	SATB1	TRRAP	SMARCA2	ZNF423	SLC12A2	COX7B	OFD1	HTT	UBR7	KMT2E	KATNIP	CBY1	PGAP3	CHST3	PRR12	BICRA	KIFBP	KIAA0753	CEP104	BRD4	SMPD4	GRIA4	HPDL	ASXL2	KIF7	RUSC2	PGAP2	SPATA5	RNF2	TGDS	MAN2B1	ARL3	ERMARD	LMBRD2	ABCC9	TCF7L2	PUS7	BCR	TCTN3	RPGRIP1L	SVBP	SYNCRIP	PDE6D	HYLS1	ARMC9	SPOP	PIGO	PPP1CB	EP300	SOX11	SUFU	AGO2	PPP2R3C	IGF1R	C12orf57	ASXL3	MBD5	CSPP1	WASF1	ZNF462	ARL13B	TMEM231	FRMD4A	NTNG1	TMEM138	PGAP1	ANKRD11	CSNK2A1	SPTBN1	SHMT2	MESD	SETD5	CNOT3	HUWE1	PIGY	KAT8	SETD1A	MN1	OTUD6B	TRAPPC4	AFF4	TRIO	JARID2	TCTN2
HP_ABSENT_PUBIC_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_PUBIC_HAIR	GJB6	EPS8L3	NR5A1	CYP17A1	AR	GNRH1
HP_HYPOPLASTIC_NIPPLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_NIPPLES	IKBKG	KDM6B	RTL1	SLC25A24	TBX3	TWIST2	TP63	BRD4	GNE	TUBB	HDAC8	EDA	SETBP1	MGAT2	RAD21	DLK1	PIGL	CHRNG	PTPRF	UBR1	MEG3	NIPBL	ANTXR1	CCDC47	FIG4	PORCN	ALG9	USP9X	WNT7A	MEGF8	SMC1A	EDARADD	SMC3	KIF15
HP_SUPERNUMERARY_NIPPLE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPERNUMERARY_NIPPLE	IKBKG	GPC3	NONO	GDF11	COLEC10	DHODH	ZEB2	TFAP2B	PIGO	CKAP2L	TRRAP	ASXL1	KIAA0586	PIGV	TCF4	MASP1	PPP2R5D	KDM1A	MEGF8	ASXL3	PNPLA6	CDH2	DDX6	MDH2	HDAC4	PIGW	TFAP2A	GPC4	PGAP3	ACTB	TNRC6B	ARHGAP31	TP63	COLEC11	PGAP2	PIGY	CSPP1	HNRNPK	PORCN	PIGL	RNF216	HS2ST1	WDR19	TMCO1	KRAS
HP_ABSENT_NIPPLE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_NIPPLE	FIG4	SLC25A24	TP63	PTPRF	CDH11	EDA	EDARADD	TWIST2
HP_LOW_SET_NIPPLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_SET_NIPPLES	PIGL	MPLKIP	GTF2E2	ERCC2	GTF2H5	ERCC3	KAT6A	TARS1	RNF113A
HP_INTESTINAL_MALROTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTESTINAL_MALROTATION	HYDIN	ZMYND10	COMT	KAT6A	DRC1	HDAC8	FGFR2	CPLX1	FGFRL1	RAD21	CCDC40	CHRM3	GATA6	DNAH5	SALL4	LONP1	LEMD3	GPC3	STK36	NIPBL	ASXL1	MYH11	DNAAF11	TBX1	BCOR	DHODH	DNAAF2	SPAG1	ODAD1	CTBP1	DNAL1	ERBB3	FOXF1	TTC12	CCDC39	CCNO	FARSB	NODAL	ISL1	NPHP3	MED12	TFAP2A	AMER1	HMGA2	LMOD1	CFAP298	FOXJ1	UBE3B	GPC4	DNAAF4	KMT2D	LRP2	ALG12	BRD4	CREBBP	ODAD4	CENPF	DNAAF5	LRRC56	GAS8	DYNC2H1	FBN2	RPGR	RSPH4A	RSPH1	DNAAF3	DNAH9	CCDC65	CHST14	ARVCF	OFD1	NOTCH2	MYLK	UFD1	LBR	ACTA2	DNAI2	SPEF2	CLMP	DNAH1	SMC3	JMJD1C	ZFPM2	SLC12A2	RFX6	FLI1	CCDC22	ACTG2	DNAI1	RSPH3	HIRA	TTC7A	SIX1	MCIDAS	MYRF	HNRNPU	EP300	GAS2L2	LETM1	CCDC103	SMO	WASHC5	CFAP300	SPINT2	TP63	RSPH9	DHCR24	DSE	KDM6A	ASXL3	EYA1	CFC1	ODAD2	ABL1	IFT43	IPO8	CFAP45	MMP21	DNAAF1	NEK10	ODAD3	FLNA	SETD5	ARID1B	WNT4	NEK1	DNAJB13	MKS1	PORCN	SEC24C	RREB1	DNAH11	DHCR7	NSD2	GP1BB	PIGN	NME8	SMC1A	CFAP221	DNAAF6	ZPR1	FLNB
HP_EPISODIC_VOMITING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISODIC_VOMITING	MT-TL1	ARG1	MT-TW	MT-TF	NOTCH2NLC	CPOX	MT-CO2	PNPLA8	MT-ND2	GK	SLC5A6	ALAD	MT-ND3	SHANK3	ZEB2	ACADVL	MT-ND5	MT-TV	MT-TC	MT-ND4	KRIT1	MT-ND6	UNC45A	NLRC4	MT-CO3	SLC25A15	D2HGDH	ALG11	MT-TS2	COQ2	MT-CO1	MT-TK	MT-TQ	CCM2	HNRNPK	PDCD10	NEXMIF	UQCRC2	HMGCL	MT-ND1	LBX1	PDSS2	CDK8	NFIX	MT-CYB	HS3ST6	MT-ATP6
HP_HEMATOCHEZIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMATOCHEZIA	TAOK1	HPS1	BMPR1A	ENG	APC	F5	WAS	WIPF1	TTC7A	SMAD4	AMACR	PLVAP	PTEN	IL10RA	ACVRL1	GREM1
HP_TRACHEOESOPHAGEAL_FISTULA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRACHEOESOPHAGEAL_FISTULA	FANCM	ARNT2	MLXIPL	DKC1	NCF1	SOX2	CYBA	RAD51	SPECC1L	ELN	USB1	TMEM270	GTF2I	FANCC	BRIP1	RFC2	FOXF1	FGF20	LIMK1	EIF4H	GREB1L	POLR1C	FANCF	ERCC4	SLX4	FANCD2	FKBP6	STX1A	FBN2	CYBB	FANCB	ZIC3	BAZ1B	CTC1	MYCN	NCF2	SEMA3E	NOTCH3	CHD7	POLR1B	HOXD13	BUD23	TERC	HESX1	FANCL	RAD51C	FANCE	DNAJC30	TCOF1	RET	MID1	GTF2IRD2	PDGFRB	PALB2	NOP10	VPS37D	UBE2T	NPM1	POLR1D	MAD2L2	FANCA	BCL7B	FGFR1	WNT9B	FANCG	ITGA8	SOX3	RTEL1	OTX2	RFWD3	TINF2	WRAP53	TERT	PROKR2	BRCA2	XRCC2	WBP11	METTL27	TBL2	CLIP2	WNT7A	GTF2IRD1	NHP2	CYBC1	PARN	NCF4	BRCA1	FANCI	SLC12A2
HP_INTUSSUSCEPTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTUSSUSCEPTION	BMPR1A	PTEN	UNC45A	STK11	ARID1B	PDGFRA	SMAD4	GREM1
HP_ABNORMAL_STOMACH_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_STOMACH_MORPHOLOGY	FASLG	MLXIPL	SUFU	TGFB3	STK11	BIN1	ZEB2	HDAC8	TLR2	CLCN4	ABCC2	SKIV2L	RIPK1	GBA	PRKCD	CDK4	FIG4	GTF2I	SLC6A5	LBR	PEX3	NCF1	ZNF41	BMPR1A	PIEZO2	GDI1	LIMK1	FTSJ1	PLEC	LAGE3	EIF4H	HDAC4	MED12	TFAP2A	APC	ALDH18A1	WFS1	VAC14	SYT2	IGKC	AKT1	PRKCZ	FBLN5	MLH3	TBX3	BUB1	BAP1	MSH6	SLC2A10	WDR4	CYBB	MYF6	TPRKB	MCC	KANSL1	MSH3	UBE4B	CASP10	NCF2	GLRB	SLC9A7	PPP2R5D	MTMR14	FLCN	DEF6	CRKL	LTBP1	COL5A2	CNKSR2	PTCH2	CCND1	KLF6	NUP107	ZNF699	ITGA6	AURKA	SMC3	BUB1B	OSGEP	CTNNB1	LAMA3	MSH2	MEG3	KCNAB2	RPS20	AXIN2	DMD	ARHGEF6	WDR73	BCL7B	PDGFRA	ARFGEF2	COL5A1	PEX6	PEX19	IQSEC2	TNXB	HRAS	SEMA4A	ACSL4	IL1B	GPHN	MMP23B	KRAS	SYP	ITGB4	NIPBL	TTC37	PEX12	PDPN	DLC1	MAP3K7	SMAD4	HNF1B	ZNF711	PRDM16	TSPAN7	NAA10	ENG	PRKAR1A	ERBB2	NFKB2	ARID1B	MAPK1	SRC	LAMB3	PORCN	TERF2IP	DLK1	METTL27	MDM2	BUB3	TBL2	ACD	DHCR7	LAMC2	BCOR	NEFH	CEP57	ARF1	USP9X	NCF4	LTBP4	STS	LRBA	PEX16	SMC1A	ATP7A	AIRE	NRAS	PEX1	RTL1	PIK3CA	EFEMP2	NEDD4L	HSPG2	IL1RAPL1	IL1RN	DNM2	SPEN	RAD21	CYBA	RERE	RNF43	CISD2	NPHS1	PEX11B	SPECC1L	DYRK1A	ELN	BAX	TMEM270	CAVIN1	DHODH	RFC2	FAT4	RASGRP1	BRAF	PEX10	PEX13	CTLA4	DLG3	COL14A1	ADAMTS3	PTPRJ	PEX5	FGFR2	TP53RK	CDKN2B	ATAD1	COL1A1	NUP133	PEX26	FKBP6	POT1	TP53	BRD4	MID2	STX1A	ERMARD	NFKB1	MUTYH	GLIS3	CHEK2	COL18A1	BAZ1B	PLA2G2A	DCC	CASZ1	IGHG2	BLM	FRMPD4	ADAMTSL2	ARX	BUD23	AAGAB	ALG13	RAB39B	STEEP1	MTM1	DNAJC30	EP300	IRF1	FOXP3	MYH11	GLRA1	PDGFRL	SYK	MLH1	FLI1	BCR	GTF2IRD2	PEX14	FAS	NEK9	AGTR2	SH2B1	PTPN12	VPS37D	PTCH1	CARD8	CCBE1	PPP2R3C	PEX2	LUZP1	CHST14	FLNA	PLA2G4A	BCL10	TCF4	ADAMTS2	RAD54B	TMTC3	MGMT	UPF3B	KIT	RPS6KA3	GON7	IPO8	CDKN2A	SDHC	SDHA	TRIP13	TREX1	PTCHD1	SDHB	MITF	GABRD	SKI	USP27X	MAP1B	CDH1	CLIP2	ZNF81	FGFR3	PAK3	MECP2	GTF2IRD1	CYBC1	MC1R	RYR1	OTC	CBLIF	TERT	HCFC1	SERPINH1
HP_GASTROPARESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROPARESIS	POLG	DNAJC6	ACTG2	SLC25A4	MAGEL2	NDN	PODXL	PRKN	OCA2	MGAT2	TWNK	POLG2	EIF2AK2	SNRPN	MPEG1	HTRA2	UCHL1	PARK7	RRM2B	HNRNPK	SON	ATP7A	PINK1	VPS13C	TYMP	TMEM70	SYNJ1	LRRK2	MYH11	SNCA
HP_VOLVULUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VOLVULUS	PACS1	BRD4	VPS51	DIS3L2	HDAC8	TEK	RAD21	CHRM3	FOXF1	ATRX	SMC1A	MYH11	NIPBL	SMC3
HP_ATROPHIC_GASTRITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATROPHIC_GASTRITIS	AIRE	NFKB1	CTLA4	LRBA	DEF6	CDH1
HP_COLITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COLITIS	CIITA	STX11	FASLG	TGFB1	CYBC1	TNFAIP3	FAS	SLC37A4	SKIV2L	IL6	POLA1	IL37	MASP2	RTEL1	RFXANK	GPR35	PRKCD	RFXAP	ZAP70	CARD8	ACADVL	STXBP2	HPS1	FERMT1	XIAP	FCHO1	MST1	RASGRP1	SEMA4D	RFX5	TCF4	RET	IL10RA	ELANE	NLRC4	PLCG2	TTC37	NOD2	BCL10	MAP3K7	IL10RB	STAT1	UNC13D	GPIHBP1	BACH2	CASP10	PIK3CD	OPLAH	IVNS1ABP	DEF6	FCN3	PRF1	INAVA	LRBA	FOXP3	CARMIL2	PSTPIP1	MYH11	NCF4	SYK
HP_INTESTINAL_BLEEDING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTESTINAL_BLEEDING	APC	BMPR1A	PTEN	CTC1	STK11	TEK
HP_ABNORMALITY_OF_THE_PERITONEUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PERITONEUM	BRCA1	PALB2	STAT6	BCL6	NPHS1	NPHS2	GAPVD1	COQ8B	MVK	EWSR1	TBC1D8B	TTC7A	CD2AP	CALR	BCL2	MEFV	SMAD4	BRCA2	APOL1	NUP133	RABL3	EMP2	SERPINE1	PTPRO	MAGI2	NUP37	NUP205	ELANE	TP53	NUP93	CFB	NUP85	TNFRSF1A	ACTN4	MYH11	PALLD	WT1	PAX2	CDKN2A	PLCE1	ARHGAP24	ELP1	CRB2	NUP107	ARHGDIA	TRPC6	ANLN	SLC29A3	NAB2	KRAS	ANKFY1	MYO1E	HLA-DRB1	F5	COL4A3	INF2	JAK2	F10	NUP160
HP_PERITONITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERITONITIS	BRCA1	MYH11	NPHS1	NPHS2	GAPVD1	COQ8B	MVK	WT1	TBC1D8B	MEFV	PAX2	CD2AP	PLCE1	ARHGAP24	CALR	CRB2	NUP107	ARHGDIA	TRPC6	ANLN	ANKFY1	MYO1E	APOL1	NUP133	F5	COL4A3	INF2	JAK2	EMP2	PTPRO	MAGI2	NUP37	NUP205	ELANE	NUP93	CFB	NUP85	NUP160	TNFRSF1A	ACTN4
HP_DUODENAL_ULCER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUODENAL_ULCER	CDKN2B	PLG	CDKN1B	EP300	CDKN2C	CDKN1A	PLA2G4A	ARID1B	MEN1	SYK
HP_GASTROINTESTINAL_ATRESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROINTESTINAL_ATRESIA	RERE	RFWD3	ARNT2	RFX6	GAS1	FLI1	AR	ERCC4	FGF8	SOX2	TTC7A	RTTN	CHRM3	RMRP	BUB1B	FANCF	SALL1	FGFR1	PTCH1	FOXF1	FANCB	SIN3A	NODAL	BUB1	YY1	PLEC	TDGF1	DYNC2I2	ITGA6	SIX3	CFAP45	SOX3	DYNC2I1	EFTUD2	MYH11	GLI2	CDON	OTX2	MIR17HG	TRIP13	ZIC2	PAH	KDM3B	SMARCD1	CENPF	FBN2	SUFU	FANCD2	SON	SIX6	ITGB4	SHH	TGIF1	FANCL	RAD51C	MYCN	IFT80	DLL1	PROKR2	WBP11	DYNC2H1	CHD7	BUB3	TCTN3	CEP57	DIS3L2	FOXH1	FGFR2	PPP1R12A	PIGN	STAG2	HESX1	MAMLD1	DYRK1A	DISP1	PORCN	ZNF699	WDR35	SEMA3E	SPINK5
HP_POLYPHAGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYPHAGIA	NDN	PREPL	MAPT	ADNP	HSPG2	POMC	YY1	SPEN	RERE	KCNJ11	SLC5A2	PTPN22	LEPR	SNRPN	SIM1	ABCC8	MC4R	SATB2	OCA2	PSEN1	MAN1B1	SETD2	PRKCZ	UBE3A	UCP2	IFT74	HTT	GRN	UBE4B	MEN1	NTRK2	CASZ1	GPR101	MAGEL2	HNF1A	SLC2A3	SLC3A1	KCNAB2	HERC2	BSCL2	CTNNB1	LEP	BRAF	GNAS	AGPAT2	LUZP1	PWRN1	MBD5	ALMS1	MKRN3	MMP23B	SNORD115-1	ATP10A	ITPR3	PDPN	PCSK1	PRDM16	GABRD	SKI	BBS9	IL6	SH2B1	NPAP1	MN1	SNORD116-1	PWAR1
HP_GASTRIC_ULCER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTRIC_ULCER	CISD2	GBA	PLA2G4A	ARID1B	WFS1
HP_PANCREATIC_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATIC_HYPOPLASIA	ABCC8	EFL1	RFX6	KLF11	GCK	PDX1	BLK	SRP54	NEUROD1	GATA6	APPL1	STAT3	PTF1A	GLIS3	SBDS	HNF1A	INS	DNAJC21	HNF1B	SLC29A3	KCNJ11	HNF4A	PAX4	CEL
HP_ILEUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ILEUS	TGFB1	WT1	CAVIN1	MTRFR	EWSR1	SLC6A8	FCGR2A	SOX10	HMBS	GUCY2C	FOXP3	FAH	CFTR	PPOX
HP_HEAD_TITUBATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEAD_TITUBATION	KIF1C	LAMA1	UCHL1	TMEM63A	VPS13A	LMNB1	SPG11	ALS2	SPTLC1	SIGMAR1	SPTBN1	PLP1	EIF2AK2	NKX6-2	HIBCH	FUS	GJC2
HP_HYPOREFLEXIA_OF_LOWER_LIMBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOREFLEXIA_OF_LOWER_LIMBS	ATL3	HADHB	LDB3	DYNC1H1	MYH7	FLNC	SPTLC2	IBA57	FBLN5	ATP6AP2	MAG	FBXO38	ADSS1	LMNA	IFRD1	CRYAB	DES	MYOT	HSPB1	FLRT1	PMP22	STIM1	PRKCG	HADHA	KLC2	DYSF	RUBCN	HSPB8	GDAP1	FASTKD2	HSPB3	GAN
HP_HEPATIC_NECROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATIC_NECROSIS	ACADVL	DGUOK	SDHD	MET	HADH	ETFDH	ETFA	CTNNB1	NHLRC2	ETFB
HP_CELIAC_DISEASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CELIAC_DISEASE	IGKC	TNPO3	BICRA	ODC1	HLA-DQA1	ELN	IL12RB1	MLXIPL	IRF5	SRCAP	SPIB	GPR35	IL12A	SATB2	STAT5B	IGHG2	MST1	STAT3	IVNS1ABP	SEMA4D	WAC	TNFSF15	TCF4	MED12	MMEL1	POU2AF1	IPO8	SOCS1	HLA-DQB1
HP_CHOLESTATIC_LIVER_DISEASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOLESTATIC_LIVER_DISEASE	STX11	NEUROG3	DHCR7	VPS33B	EPCAM	UNC13D	HSD3B7	NOTCH2	SHPK	AMACR	CCDC115	YARS1	HADHA	PRF1	STXBP2	VIPAS39
HP_CONGENITAL_HEPATIC_FIBROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_HEPATIC_FIBROSIS	EOGT	B9D2	PNPLA6	WDR19	RPGRIP1L	TMEM67	ARHGAP31	CEP290	TMEM216	SDCCAG8	CEP164	TMEM107	HAMP	TCTN2	INVS	DYNC2I2	CC2D2A	NPHP4	DZIP1L	DLL4	DYNC2I1	MKS1	TTC26	SLC40A1	NPHP1	NOTCH1	INPP5E	B9D1	CSPP1	TMEM237	RPGRIP1	DOCK6	HJV	IFT80	TCTN3	DYNC2H1	TRAF3IP1	RBPJ	NPHP3	TXNDC15	TCTN1	TMEM231	DCDC2	WDR35	PKHD1	IQCB1
HP_BILIARY_CIRRHOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILIARY_CIRRHOSIS	TGFB1	TTC26	SLC9A3	TNPO3	CEACAM3	LBR	IL12RB1	KCNN4	FCGR2A	CEACAM6	IRF5	CFTR	SPIB	STX1A	SLC11A1	PKHD1	CLCA4	WDR35	SLC26A9	IL12A	DCDC2	GCLC	MIF	GSTM3	EDNRA	HFE	DCTN4	HMOX1	NPHP3	SERPINA1	TNFSF15	MMEL1	SLC6A14	POU2AF1	ABCB4
HP_HYPOTENSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOTENSION	TNPO3	RUNX1	HEXB	SNCA	DBH	CFH	CHCHD2	SLC12A1	IRF4	REN	PROP1	TXNRD2	LEPR	COQ2	KYNU	LHX4	SIM1	STAR	GSN	MMEL1	ACAT1	AGT	TET2	ABCA3	CD46	CYP11B2	COL1A1	ASXL1	CDH23	GMPPA	ALB	SRSF2	ATRX	KCNJ1	HELLPAR	SCNN1A	IRF5	CHRNA3	GBA	SPIB	PRKAG2	HSD3B2	POU1F1	SLC25A20	NFKB2	IL12A	CFI	LRRK2	FOXA2	DCTN1	CLCNKB	LMNB1	DNAJC13	MRAP	TBX19	CYP11A1	NTRK1	COL5A2	AGTR1	HESX1	NR3C2	GLI2	SLC12A3	SERPINA6	SAA1	IL12RB1	CBL	CAV1	SCNN1G	ARSA	CASR	GIGYF2	LEP	ELP1	NNT	GBE1	VHL	SOX3	SPG11	RYR1	EIF4G1	VPS35	DDC	AIP	TNFSF15	DHPS	KIT	OTX2	SFTPB	COL5A1	SCNN1B	TTR	GNA11	AAAS	PDE4D	MEN1	PSAP	ACE	DAXX	FMR1	MC2R	MUC1	HMGCL	CYB561	POU2AF1	ATP7A	SERPING1	SFTPC
HP_AORTIC_ROOT_ANEURYSM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AORTIC_ROOT_ANEURYSM	GANAB	COL5A1	TGFB3	TGFBR1	NTNG2	SRCAP	LOX	ZMIZ1	B3GALT6	TRMT1	MAT2A	ROBO4	SATB1	ELN	KDM4B	TGFBR3	SLC12A2	PSMD12	KCNH1	MED13	DOCK3	ENG	FBN2	MED27	CLCN3	HTT	UBR7	KMT2E	PRKG1	B3GAT3	MYPN	PKD2	COL1A1	ACTA2	GRIA4	HPDL	LMNA	ALG9	KANSL1	THSD1	FMR1	ACTL6B	TNRC6B	COL1A2	TGFBR2	MYT1L	EMC10	LMBRD2	COL5A2	FBN1	DPYSL5	PGM3	ERCC8	SLC2A10	MFAP5	TCF7L2	TANC2	CHST3	MID1	PUS7	PTPN23	BICC1	TRIP12	TPM3	DNMT3A	SVBP	DDX6	SMAD3	SYNCRIP	BCAS3	SMAD4	MADD	MAPK8IP3	KCNMA1	PPP1CB	PALS1	NKAP	AGO2	SMAD2	MYH11	FBXW11	WDFY3	RNF2	WASF1	ACTL6A	TGFB2	FOXE3	NPR3	DNAJB11	BPTF	ANGPTL6	IPO8	NTNG1	TCF20	MYLK	SPTBN1	COL3A1	CNOT3	CARS1	ERCC6	HUWE1	PIGN	BCORL1	RLIM	HEY2	KAT8	SETD1A	TRAPPC4	AFF4	CCDC32	AEBP1	JARID2	HS2ST1	PKD1	ANKRD17	TPM2
HP_VASCULAR_DILATATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VASCULAR_DILATATION	NDE1	ELN	MLXIPL	TGFB3	OFD1	TGFBR1	NTNG2	TMEM67	ZMIZ1	RAI1	ALDH18A1	COL4A1	FLNB	TRMT1	HLA-B	MAT2A	KANSL1	KDM4B	PRKCSH	MNX1	SMAD4	BRAF	GTF2I	PKP2	NCF1	PSMD12	MED13	DOCK3	MYH11	C12orf57	LIMK1	FBN2	HGD	MED27	EIF4H	CLCN3	MYPN	PRKCZ	FBLN5	EXT1	ZMPSTE24	LOX	FOXE3	EXT2	ALG9	UBE4B	THSD1	RPL10	SEMA3E	PTEN	RIN2	TGFBR2	ACTL6B	SEC63	TNRC6B	COL1A2	RASA1	GMPPB	NOTCH1	EMC10	SALL4	CRKL	MLX	LTBP1	COL5A2	MARS2	RNASEH2C	DPYSL5	SMAD3	ACTA2	PGM3	NSD1	ATP7A	IFIH1	MFAP5	TANC2	CHST3	MID1	SLC25A24	PTPN23	TRIP12	TPM3	STAT3	RNASEH2B	TSC1	ABCC6	DDX6	COL3A1	LMNA	BCAS3	KCNAB2	SETD2	MADD	MAPK8IP3	EFEMP2	KCNMA1	PALS1	BCL7B	SKI	MYH3	ARFGEF2	COL5A1	SMAD6	FBN1	SPTBN1	PKD1	FBXW11	WDFY3	ACTL6A	TGFB2	NPR3	BPTF	MMP23B	NF1	TCF20	LRP5	P4HA2	PDPN	NKX2-5	MED12	STAT1	TONSL	PRDM16	CHD7	TAB2	RAF1	PRKAR1A	UBR1	MAPK1	PIGN	BCORL1	RLIM	MKS1	METTL27	TBL2	BRF1	PRKG1	ARF1	CCDC32	LTBP4	MYT1L	HS2ST1	ANKRD17	SAMHD1	TPM2	PTPN22	PBX1	GANAB	APC2	PLOD1	ENG	SRCAP	NEDD4L	HSPG2	B3GALT6	SPEN	RERE	ROBO4	ADAR	SATB1	TGFBR3	NPPA	GGCX	ENPP1	TMEM270	CAVIN1	SLC12A2	KCNH1	RFC2	FMR1	FARSB	GATA5	NODAL	HTT	UBR7	KMT2E	B3GAT3	CRB2	PKD2	COL1A1	FKBP6	SOX10	PAM16	STX1A	GRIA4	PTPN11	PIGY	ERMARD	HPDL	BAZ1B	TSC2	HNRNPK	CASZ1	WDR19	BUD23	LMBRD2	IL12B	DNAJC30	ERCC8	SLC2A10	TCF7L2	PCNT	PUS7	BICC1	SEC61A1	BCR	GTF2IRD2	DNMT3A	HLA-DRB1	SVBP	SYNCRIP	PLOD3	VPS37D	NOD2	PPP1CB	NKAP	AGO2	SMAD2	LUZP1	FLNA	MYLK	TMTC3	RNF2	WASF1	GAA	DNAJB11	ANGPTL6	IPO8	EPHB4	NTNG1	CHRNG	NSMCE2	PEX12	CNOT3	CARS1	ERCC6	GABRD	HUWE1	MAP1B	HEY2	RYR2	KAT8	CLIP2	SETD1A	RNASEH2A	TRAPPC4	AFF4	GTF2IRD1	TREX1	AEBP1	BGN	JARID2
HP_VARICOSE_VEINS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VARICOSE_VEINS	TBX1	ENG	FLT4	COMT	SLC12A3	EPHB4	FIBP	COL3A1	HIRA	FOXC2	G6PC3	GBA	NOTCH3	SMAD3	PIK3CA	SLC29A3	ARVCF	SEC24C	VHL	RREB1	RASA1	GJC2	GP1BB	UFD1	CLCNKB	PIEZO1	AEBP1	KIF5A	JMJD1C
HP_OVERRIDING_AORTA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVERRIDING_AORTA	MLXIPL	GTF2IRD2	FKBP6	STX1A	RAI1	HCCS	VPS37D	BAZ1B	COX7B	NDUFB11	ELN	BCL7B	TMEM270	GTF2I	CHD7	NCF1	METTL27	TGDS	TBL2	CLIP2	RFC2	NEK9	BUD23	FGFR2	GTF2IRD1	LIMK1	EIF4H	DNAJC30	SEMA3E
HP_ABNORMAL_VENOUS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VENOUS_MORPHOLOGY	HYDIN	PLOD1	ENG	ZMYND10	COMT	PRKACB	DRC1	RAI1	CCDC40	PLXND1	UQCRFS1	SRCAP	DNAH5	SMG8	G6PC3	GBA	BAP1	STK36	DNAAF11	TBX1	FOXC2	DNAAF2	SPAG1	ODAD1	DNAL1	GJC2	FOXF1	KRIT1	TTC12	CCDC39	CCNO	SEMA4D	ATP6V0A2	PIEZO1	TCF4	KIF5A	PROS1	CAV1	CFAP298	FOXJ1	DNAAF4	RBM10	ODAD4	DNAAF5	LRRC56	FIBP	GAS8	RPGR	RSPH4A	PIK3CA	RSPH1	DNAAF3	DNAH9	ADH5	COL3A1	GLMN	ANTXR1	CCDC65	SLC29A3	ARVCF	PDCD10	OFD1	PTEN	PPARG	RASA1	UFD1	CLCNKB	UBE2A	DNAI2	ATP7A	SPEF2	ZNF699	DNAH1	JMJD1C	MID1	CAVIN1	SLC25A24	FLT4	SLC12A3	FOS	DNAI1	RSPH3	HIRA	MCIDAS	PRKCD	GPR35	NKX2-6	ATP6V1A	GAS2L2	AGPAT2	ATP6V1E1	CCDC103	COG4	VHL	CFAP300	BANF1	NDP	MST1	LMNA	RSPH9	PPP1R15B	ODAD2	SMOC1	POLR3A	SLC39A13	TEK	MMP21	DNAAF1	TMEM260	NEK10	ALX4	KDM3B	MED25	ODAD3	BSCL2	PYCR1	EPHB4	GNB2	NOTCH3	SMAD3	CCM2	LEMD2	MSX2	DNAJB13	SEC24C	PTDSS1	RREB1	PROC	DNAH11	GP1BB	AGGF1	AKT1	NME8	GNAQ	AEBP1	WT1	CFAP221	FADD	DNAAF6	CWC27
HP_DEEP_VENOUS_THROMBOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEEP_VENOUS_THROMBOSIS	SERPIND1	EPAS1	SERPINC1	PROC	F5	F9	MTHFR	F2	AKT1	MTRR	UBA1	PMM2	PLAT	PIEZO1	ALG6	MMACHC	THBD	PIGA	PROS1	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	TBX1	ESS2	CRELD1	DGCR8	DGCR6	STRA6	DGCR2
HP_FAT_MALABSORPTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FAT_MALABSORPTION	AKR1D1	TGFB1	SAR1B	EFL1	CYP7B1	HSD3B7	LBR	HLA-DQA1	EPCAM	FCGR2A	SBDS	PRSS1	SLC10A2	LIPA	CCDC47	PEX12	PNLIP	CFTR	DNAJC21	TJP2	DZIP1L	SRP54	HLA-DQB1	ANTXR2	MTTP	SLC51B	AMACR	PTF1A	ACOX2	ATP8B1	SLC7A7	PRSS2	CTRC	PTRH2	ABCB11	COX4I2	SPINK1	SHPK	CLMP	PKHD1
HP_VASCULITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VASCULITIS	C4A	FASLG	PTPN22	IL12A-AS1	HLA-DRB1	IL12A	MVK	WAS	FAS	IFNGR1	MEFV	CFI	NFKB1	IL12RB1	HLA-B	NLRP3	NOD2	CD19	SLC22A4	PRKCD	TNFRSF13C	NFKB2	PRTN3	TLR4	CTLA4	NFKBIL1	DNASE1L3	RASGRP1	HLA-DPA1	IL10	TREX1	PNP	SCN9A	TNFRSF13B	DOCK8	HLA-DPB1	KLRC4	TNFRSF1A	PGM3	P4HA2	SCN11A	CASP10	CD244	CCR1	ERAP1	OTULIN	MS4A1	CR2	IFIH1	ARPC1B	ICOS	XIAP	IL23R	SAMHD1	SCN10A	WIPF1	TNFSF12	CD81	CIITA	ADA2	MLX	IL12B	STAT4	ACP5	UBAC2	SH2D1A	MYD88	SYK
HP_ARTERIOSCLEROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTERIOSCLEROSIS	ALMS1	GLB1	TGFBR1	LOX	ABCA1	MAT2A	LCAT	SMPD1	HTRA1	ELN	LIPA	TGFBR3	GGCX	ENPP1	ASAH1	ERCC3	ABCC6	SMARCAL1	MYH11	ENG	HLA-DRB1	XYLT1	PPP1R17	GHR	APOB	PRKG1	ANTXR1	LDLRAP1	ACTA2	PNPLA2	ZMPSTE24	LMNA	LDLR	ERCC5	THSD1	CYP27A1	AGXT	BRCC3	WRN	HGD	CAT	SERPIND1	NEU1	TNXB	TGFBR2	KCNJ5	FBN1	ERCC8	ABCG5	MFAP5	ABCG8	PPARG	SC5D	SMAD3	SMAD4	APOA1	CYP7A1	NPC1	SMAD2	ERCC2	ERCC4	TGFB2	FOXE3	ANGPTL6	APOA2	MYLK	CSF2RA	XYLT2	COL3A1	EPHX2	PCSK9	ERCC6	TGFB3	CSF2RB	LIPC	APOA5	HEY2	ESR1	CEP19	NPC2	CELA2A	ZNF687	APOE
HP_BUDD_CHIARI_SYNDROME	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BUDD_CHIARI_SYNDROME	JAK2	MPL	PIGA	TET2	F5	CD55
HP_NEONATAL_RESPIRATORY_DISTRESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_RESPIRATORY_DISTRESS	CANT1	HYDIN	PLEC	ZMYND10	RUNX2	MT-TT	KAT6A	DRC1	SFTPB	BIN1	DNM2	ALDH7A1	CCDC40	COX14	DNAH5	NPHS1	ABCB4	GPC3	CCDC39	STK36	ODAD2	DNAAF11	ARSL	DNAAF2	SPAG1	ODAD1	DNAL1	FOXF1	TTC12	CCNO	GRM7	NSF	SMARCA2	TOR1A	ABCA3	CFAP298	FOXJ1	UBE3B	NR1H4	GPC4	SLC27A4	DNAAF4	XYLT1	RYR1	ODAD4	SMPD4	GALK1	DNAAF5	LRRC56	SUCLG1	GAS8	RPGR	RSPH4A	PLCB3	HSD3B2	MYF6	CHRNG	RSPH1	SCN4A	DNAAF3	TRIP4	CSGALNACT1	DNAH9	NDUFB10	CCDC65	COLQ	PLAGL1	OFD1	MTMR14	NEK10	RNF168	MADD	SHPK	MTM1	DNAI2	DPM2	ITGA3	SPEF2	DNAH1	SOX9	RALGAPA1	PLPBP	LAMB2	SLC13A5	DNAI1	RSPH3	SBDS	MCIDAS	ABCB11	SPOP	COX6A2	ASCC1	GAS2L2	GLUL	CCDC103	MYH3	PIK3CD	CFAP300	FBN1	KNSTRN	RSPH9	DNAJC21	PDHA1	KIF22	DNAAF6	SRP54	ZC4H2	DNAAF1	CUL7	NKX2-1	HYMAI	ATP8B1	ODAD3	PTCD3	GNB2	ALG14	DNAJB13	LONP1	DNAH11	KIAA0753	CPT2	NME8	SNRPB	MLYCD	CFAP221	TRAF7
HP_ABNORMALITY_OF_PELVIC_GIRDLE_BONE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_PELVIC_GIRDLE_BONE_MORPHOLOGY	RERE	IFNGR1	ELN	NTNG2	MYO9A	AGRN	DDRGK1	EED	NDN	EXOSC3	COL1A2	GPC3	IL6ST	NKX3-2	KLHL41	FANCC	SNRPN	CEP120	HSPG2	COL6A2	TGIF1	RAB11B	MED27	EIF4H	IFT140	TWIST2	PIGW	UNC45A	RUNX2	TGFB1	FANCF	MMP13	ERCC4	FANCD2	LIFR	FBLN5	DYNC2H1	UMPS	WDR19	CTSK	CDON	CHRNG	RSPRY1	TBCD	SLC39A13	FGFR1	RNF13	EVC2	DMP1	CCN2	LBR	BICD2	EMC10	SHPK	LMNA	LTBP1	ARNT2	SLC6A9	FRAS1	SMC3	TBX4	CHST3	PTPN23	TRIP12	GMNN	RYR1	SMARCAL1	AEBP1	CPLX1	FREM2	RMRP	ATP6V1A	MAD2L2	FANCA	STIL	CLCN3	WNT7A	SIX3	FGFR3	KDM6A	DYNC2LI1	CAV1	FBXW11	WDFY3	COL6A3	SMOC1	ECEL1	TRAPPC11	DYNC2I1	TCF20	CD96	FLNA	PTCH1	IFT81	MAGEL2	ZIC2	HDAC6	TONSL	TELO2	CSPP1	BCORL1	DISP1	RLIM	GATA1	METTL27	RNU4ATAC	NPAP1	DHCR7	TGFBR2	CREBBP	GNPTAB	PTRH2	GDF5	COL11A2	RPS6KA3	MYT1L	FIG4	OCA2	ERGIC1	SLC35A3	CENPJ	PLOD1	IDS	ENPP1	LONP1	KAT6B	RAD21	CHRM3	GALNS	GLI3	FGFR2	COL2A1	DHODH	COL9A1	NGLY1	ATAD3A	KMT2E	TNFRSF1A	UBE3B	ATAD1	SLC26A2	FKBP6	BMPR1B	PAM16	BRD4	FGF8	PIGL	HPDL	TNNT3	CSGALNACT1	RETREG1	GAS1	ERCC6	COL13A1	BUD23	MKKS	ZNF469	FANCE	DNAJC30	MBTPS2	SLC2A10	TCF7L2	PUS7	DLL1	FLI1	SELENON	SYNCRIP	CLTCL1	SOX9	CCR6	VPS37D	POC1A	GUSB	MATN3	EP300	IARS2	AGO2	HACD1	HYAL1	MASP1	PHF6	OSGEP	CCDC8	DNAJC21	DSTYK	TFE3	EIF2AK3	SNORD115-1	ADA	TRPV4	LMX1B	SPTBN1	KDM3B	GPHN	AP4M1	GPX4	IFIH1	TAF1	PRDM5	XRCC2	HNRNPK	KAT8	SETD1A	WDR35	KIAA0753	PYCR1	AFF4	TRIP11	BRCA1	ACP5	PORCN	LRP4	PYCR2	OCRL	COL1A1	CANT1	PIGG	FKRP	RINT1	TTN	TPM2	HDAC8	ALDH18A1	FLNB	COMP	RIPK4	VCP	PIEZO2	KDM4B	MYH3	SLC6A5	CTBP1	STAG2	IRF5	CEP152	GLB1	COL5A2	COL12A1	ANTXR1	PIGN	PRKCZ	EXT1	DCHS1	AMER1	MYH8	ACTA1	IDUA	AP4B1	NALCN	GLRB	TNNI2	FANCB	ABCC9	TNRC6B	PPP2R5D	GLI2	MMP9	GORAB	SEC24D	CCBE1	CENPE	ORC1	SYT2	VANGL1	TRAPPC2	PALB2	KCNAB2	ERCC8	SHOX	INPPL1	CHAT	FHL1	IHH	VIPAS39	SF3B4	COG1	ATP6V1E1	WASHC5	FANCG	ACTL6A	FN1	SRP54	CUL7	SETBP1	SOST	PDPN	SHH	TDGF1	MAP3K7	GJB2	GSC	MYL2	LEMD3	MUSK	NEB	PAFAH1B1	SLC12A2	NODAL	HS2ST1	ANKRD17	RTL1	AFF3	POR	SRCAP	SLC35D1	SATB1	NIPBL	RSPO2	NUP85	SPEN	KIAA0586	USP7	VAMP1	MRPS25	PTH1R	DYM	FKBP10	GMPPB	PGAP3	SLX4	CNOT3	HLA-B	PCYT1A	PIGY	DVL3	COLEC11	BAZ1B	MEG3	CDCA7	SMO	MAN2B1	EBP	MIR140	INPP5K	TRAF3IP1	PLK4	MYBPC1	CRTAP	ATP6V0A2	SHROOM4	PLEKHM1	CCDC22	SEC23A	WNK1	SVBP	NIN	HERC2	UBE2T	SCN9A	KIAA0319L	HACE1	GEMIN4	ARX	C12orf57	ALG9	SLC35A2	ATN1	WASF1	PTEN	SEC31A	GPC4	TPM3	TRAIP	TRAPPC12	RFWD3	B3GLCT	CLIP2	EXTL3	SH3PXD2B	GTF2IRD1	GJB6	RBM8A	SMAD4	EXOC6B	COLEC10	ZMIZ1	TRMT1	RAD51	HK1	COL6A1	GTF2I	NCF1	ROR2	DOCK3	ANKH	TOR1A	NELFA	SATB2	INTU	MMP2	PEX5	SLC25A1	SERPINF1	LETM1	GNPTG	PTPN22	ZMPSTE24	EXT2	KANSL1	FOXH1	DDR2	ACTL6B	MYO18B	FANCL	NTRK1	DPYSL5	SMAD3	LARGE1	HOXA11	COL9A3	GLE1	CHD4	ITGA7	SMC1A	FUT8	SBDS	LMOD3	MAPK8IP3	COL10A1	KCNMA1	SLC10A7	PPP2R1A	BCL7B	B2M	AP4S1	MKRN3	BPTF	MYH7	TNFRSF11A	WDR26	NEPRO	GJA1	KIF1A	CCN6	PRDM16	IFITM5	AP4E1	MAP3K20	OBSL1	NXN	FBLN1	POMT1	LMNB2	IFT52	NSD2	CCDC32	DVL1	SNRPB	AKT1	FANCI	ATP7A	EFEMP2	VPS33B	TMEM251	USP9X	SIL1	RFC2	IFT172	UBR7	PTPN2	KIF22	BICRA	SLC5A7	IRX5	GRIA4	ATR	PGAP2	RPS19	VPS13B	PHEX	AP3B1	ZBTB20	RAD51C	BMPER	GLRA1	PCNT	EVC	TMEM67	COL11A1	THRA	WNT5A	CFL2	COG6	ADAMTS2	HHAT	ANKRD55	SMARCA2	IL2RA	RNF2	FUZ	PEPD	CFAP410	NTNG1	ARSB	ANKRD11	DLK1	HLA-DRB1	ERCC1	IL2RB	BRCA2	GRIP1	TRPS1	SNORD116-1	YWHAE	FBN1	MBD5	MLXIPL	TRIM8	MCTP2	APC	ABCC6	EIF4A3	PSMD12	MED13	XYLT1	LIMK1	KCNK4	CLCN7	VAC14	PUF60	BGN	KMT2D	POP1	UBE4B	GLI1	SNAP25	VPS33A	IDH1	DDB1	TBXAS1	TANC2	COL9A2	FZD2	DDX6	POLR1A	LRP5	BCAS3	POMT2	TBX15	GNPAT	MADD	PALS1	PIGV	NANS	TET3	B3GALT6	CD247	EYA1	CTC1	MMP23B	POLR3A	IFT43	FARS2	ZNF407	GNB2	TBL2	NSDHL	PWAR1	WNT3	RBBP8	UFSP2	TIMM22	FANCM	FGFRL1	FAT4	MECOM	THOC2	RPS15A	TTC21B	CCDC47	TMEM270	BRIP1	VDR	RECQL4	AIFM1	DYNC2I2	HTT	ATRIP	B3GAT3	OFD1	PIK3C2A	SIM1	STX1A	AARS1	PLCB3	TWIST1	RAB23	COL3A1	SLC18A3	CASZ1	ADAMTSL2	LMBRD2	COX8A	GTF2IRD2	MTX2	SIX1	PIGO	PPP2R3C	LUZP1	PWRN1	SH3TC2	TGFB2	IPO8	COL5A1	ZC4H2	EZH2	IFT80	GABRD	SKI	STAT4	HUWE1	TRAPPC4	NFIX	JARID2
HP_WORMIAN_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WORMIAN_BONES	RTL1	CHD4	ELN	BCL11B	HPGD	RUNX2	PPIB	WNK1	ALDH18A1	NOTCH3	ATP7A	THRA	COL1A2	SCN9A	FKBP10	TAPT1	MTX2	TENT5A	HSPG2	COL1A1	FBLN5	CTSK	P3H1	AIFM1	LMNA	SP7	ATP6V0A2	ZMPSTE24	BMP1	SETBP1	PAM16	FLNA	MESD	KIF1A	DLK1	IFITM5	PLOD2	PDGFRB	MEG3	RETREG1	LEMD2	LRP5	PRKG2	GORAB	NOTCH2	KDELR2	SH3PXD2B	SEC24D	AFF4	P4HB	CRTAP	ARID2
HP_AORTIC_DISSECTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AORTIC_DISSECTION	PTPN22	PLOD1	TGFB3	TGFBR1	HLA-DRB1	LOX	SMAD3	COL3A1	MAT2A	SMAD4	ELN	TGFBR3	HLA-B	SMAD2	ABCC6	MYLK	SMAD6	MYH11	ENG	GATA5	FBN1	TGFB2	FOXE3	ANGPTL6	PRKG1	P4HA2	NKX2-5	ACTA2	MFAP5	THSD1	HEY2	TGFBR2	NOTCH1	BGN	ENPP1	SLC2A10
HP_SPONDYLOEPIMETAPHYSEAL_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPONDYLOEPIMETAPHYSEAL_DYSPLASIA	COL2A1	MATN3	BGN	NANS	KIF22	B3GALT6	PAPSS2	EXOC6B	DDRGK1	TONSL	AIFM1	ACAN	DYM	RSPRY1	MMP13	DDR2	IARS2
HP_SKELETAL_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKELETAL_DYSPLASIA	COL2A1	EFL1	EXOC6B	EPCAM	DDRGK1	FGFR1	CDKN1C	SFRP4	TRPV4	KANSL1	ABCC9	FLNB	FGFR3	NKX3-2	ACTB	PEX3	HSPG2	MMP13	AIFM1	SMARCAL1	TACR3	TMEM67	CANT1	GLB1	IFT140	ACTG1	VPS33A	HSPA9	COL11A2	RUNX2	TGFB1	POLR1C	CEP120	BGN	XYLT1	POP1	BMPR1B	NDNF	IDUA	FEZF1	RSPRY1	EIF2AK3	PEX7	SLC39A13	DDR2	RPL10	DMP1	ACAN	NOTCH2	RNU4ATAC	SLC26A2	IDH1	RMRP	COMP	COL9A3	GPX4	PHYH	CTSA	TREM2	SBDS	NLRP3	TRAPPC2	SEMA3A	POLR1D	COL10A1	ALG3	HS6ST1	NANS	B3GALT6	PEX6	CHD7	PEX19	TONSL	FN1	PIK3C2A	GJA1	SRP54	DYNC2I1	PTH1R	NF1	HDAC6	FLNA	PEX12	IL17RD	DUSP6	CCN6	FLRT3	TMEM165	TBXAS1	ANOS1	KIF7	DNAJC21	MATN3	FGF8	NPR2	SOX10	COL9A1	TRIP11	FAT4	UFSP2	AKT1	ALG9	DYM	PEX16	COL3A1	PEX1	LIFR	LRRK1	MBTPS1	DCHS1	ENPP1	LONP1	EXTL3	DCC	TTC21B	PEX11B	DPYD	ERF	POLE	FGF17	IARS2	IHH	ACP5	NMNAT1	PEX10	IFT172	PEX13	HESX1	DYNC2I2	PROKR2	PEX5	CHST3	KIF22	RECQL4	PEX26	ANKH	CDH3	PAM16	COL9A2	PCYT1A	DYNC2H1	STAC3	TYROBP	SMO	PTEN	CCDC141	NEU1	POLR1B	ANAPC1	SEC24D	LBR	P4HB	ALG6	LTBP3	COL11A1	TCOF1	GLI3	DYNC2LI1	PEX14	KRAS	SEC23A	KCNJ8	LOXL3	PEX2	GNAS	B4GALT7	CFAP410	ALDH3A2	ARSB	PAPSS2	MAP3K7	IFT80	PROK2	LEMD3	SF3B4	SPRY4	WDR19	CWC27	GDF5	WDR35	WDR11
HP_BONE_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BONE_PAIN	SCARB2	RUNX1	CDC73	AGXT	WNT1	ENPP1	BCOR	LPIN2	PSAP	CYP27B1	STAT3	GNAS	SLC34A1	RARA	GBA	AP2S1	VDR	SQSTM1	CYP2R1	HABP2	IDH1	FGF23	TGFB1	PSMB8	ELANE	TET2	PML	ASXL1	STAT5B	SRSF2	MINPP1	TYROBP	DMP1	PHEX	NABP1	CLCN5	NOTCH2	TEK	POLE	VCP	SNX10	KIF1B	NUMA1	SLC34A3	CBL	TREM2	PRKAR1A	ATP7B	PTH1R	CCND1	TCIRG1	EHHADH	FOXE1	HPGD	CLCN7	TNFRSF1A	TBL1XR1	DKK1	TNFRSF11A	IRF2BP2	EXT1	TNFSF11	NPM1	LEMD3	FIP1L1	IDH2	CYP19A1	WNT3A	NDUFAF6	SLCO2A1	SERPINF2	TRPS1	PTPN11	ZNF687	ZBTB16	GATM	KIT
HP_MULTIPLE_EPIPHYSEAL_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_EPIPHYSEAL_DYSPLASIA	SLC26A2	PEX7	COL9A1	TRAPPC2	KIF7	COL2A1	PHYH	RNU4ATAC	EIF2AK3	MATN3
HP_SPONDYLOEPIPHYSEAL_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPONDYLOEPIPHYSEAL_DYSPLASIA	CHST3	ACAN	COL2A1	RNU4ATAC	RPL10	MBTPS1	IARS2	SMARCAL1	CCN6	NMNAT1	TRAPPC2	TRPV4	COL11A1
HP_EPIPHYSEAL_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIPHYSEAL_DYSPLASIA	SLC26A2	XYLT1	ARSB	COL11A2	B3GALT6	COL9A2	TMEM165	COL9A1	COL11A1	EXTL3	LOXL3	CDKN1C	MATN3	TRPV4	DPYD	FLNB	RNU4ATAC	NPR2	PTH1R	CANT1	KIF22	COL9A3	HSPA9	EIF2AK3	LTBP3	DYM	COMP	COL2A1
HP_SPONDYLOMETAPHYSEAL_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPONDYLOMETAPHYSEAL_DYSPLASIA	FN1	GPX4	COL2A1	PAM16	TRIP11	TRPV4	ACP5	CFAP410	PCYT1A
HP_INCREASED_SUSCEPTIBILITY_TO_FRACTURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_SUSCEPTIBILITY_TO_FRACTURES	LMOD3	WNT1	DKC1	PLEKHM1	MOGS	MPV17	CDKN2B	LPIN2	FKBP10	HRAS	TCIRG1	SCN9A	SLC34A1	TYROBP	PDE8B	CTSK	TACR3	CLCN7	GNPTAB	LRP5	CDKN1A	UNC45A	RUNX2	YY1AP1	SATB2	IER3IP1	LIFR	SERPINF1	FBLN5	NEB	HNRNPA2B1	KRAS	SRSF2	NDNF	NRAS	FEZF1	HBB	TRIP4	SGMS2	CHRNG	EXOC6B	TP53	TBCD	CYP27A1	CTC1	ANO5	UROS	RIN2	GORAB	NFIX	VCP	CBS	ALPL	NOTCH2	VDR	NGF	CASR	SLC29A3	COL1A1	NTRK1	LTBP1	TMEM38B	ATP7A	CHST3	SPTLC2	STAT3	CA2	SC5D	SLC37A4	CLCN5	B4GALT7	ACTA1	NPM1	SEMA3A	CTNNB1	TRPV6	EHHADH	HS6ST1	B2M	B3GALT6	KIF1A	CHD7	SMS	OCRL	CHEK2	SLC34A3	TNFRSF11A	RTEL1	SLC7A7	PRKACA	TNFSF11	IL17RD	DUSP6	AGA	ARMC5	FLRT3	TNFRSF11B	IFITM5	ELP1	ANOS1	SEMA5A	PLOD2	WNT3A	GNAS	FGF8	SOX10	TET2	COL1A2	TRIP11	GLE1	NHP2	PARN	ZNF687	GATM	PRDM5	MYH3	SCARB2	RUNX1	AGXT	EFEMP2	MBTPS2	KCNJ6	SMPD1	DCC	GK	CYP27B1	KLHL41	WNK1	PANK2	SLC9A3R1	USB1	TENT5A	GBA	FGF17	NGLY1	P3H1	SQSTM1	CYP2R1	ATL3	HESX1	HABP2	IDH1	RB1	PROKR2	TREM2	B3GAT3	RECQL4	ASXL1	ATL1	FGFR1	P4HB	MINPP1	CDKN1B	TIMM8A	SLC4A1	CCDC141	KDELR2	TERC	SEC24D	ZNF469	LBR	CRTAP	HNRNPA1	CHRND	SPTLC1	PRKAR1A	SNX10	PDE11A	PPIB	TPM3	CBL	RETREG1	CLTCL1	ATP7B	PLOD3	NOP10	SOX9	CCND1	ASCC1	MEN1	BRAF	TAPT1	FOXE1	BANF1	FN1	ZFHX2	MMP2	DKK1	COL2A1	ANTXR2	KLHL40	CTNND2	MESD	PROK2	LEMD3	PTEN	TINF2	WRAP53	MMP14	PTH1R	IDH2	TERT	SPRY4	CHRNA1	NDUFAF6	CDKN2C	PYCR1	MTAP	FZD4	KIT	WDR11
HP_PAINLESS_FRACTURES_DUE_TO_INJURY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAINLESS_FRACTURES_DUE_TO_INJURY	RETREG1	NTRK1	ZFHX2	KIF1A	NGF	SCN9A	MPV17	WNK1
HP_DELAYED_EPIPHYSEAL_OSSIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_EPIPHYSEAL_OSSIFICATION	PROP1	KIF22	COMP	COL2A1	GPX4	TSHR	MIR140	SLC34A3	DDRGK1	CLCN5	LHX4	LHX3	TONSL	DUOX2	DUOXA2	CYP27B1	KCNH1	HESX1	CYP19A1	TSHB	POU1F1	KIF7	SLC5A5	ESR1	TRPV4	B3GALT6	CYP2R1	TPO	PTH1R	VDR	PISD	IYD	TG	RNU4ATAC	COL9A3	MATN3
HP_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM	TP53	TFE3	PIK3CA	GNA11	CTSA	RB1	TXNRD2	GPC3	MET	FAH	PIK3R1	HSPG2	SPRTN	EXT2	PTPN3	SLC22A18	NBN	HDAC4	TCF3	FAM149B1	ERCC3	FANCF	ERCC4	BRCA2	AKT1	FANCD2	POT1	BMPR1B	KRAS	ATRX	MT-TK	SMARCE1	BCR	MYF6	CHRNG	DLST	IKZF3	PYGL	CTC1	PHKB	TRAF7	TSC1	MSR1	DIS3L2	ESR1	DEF6	PHF21A	POGLUT1	TERT	KDSR	CYP2A6	PHB1	SDHD	POLE	FANCC	LRRC8A	IL12RB1	NRAS	IGHM	SMARCB1	SDHAF2	APC	CDH23	CTNNB1	SSX1	RMRP	MAD2L2	FANCA	HABP2	PTCH1	BRAF	ELANE	LAMB3	SRP54	IDH1	RPL35A	RTEL1	RPS26	BAP1	OGG1	UROS	EPCAM	TGFBR1	JAK2	TARS1	ARID1B	RPS15A	BDNF	ALX3	GATA1	SCN10A	MDM2	PDGFB	KDR	NTHL1	DISP1	MYD88	HBB	USF3	POU2AF1	VHL	PKHD1	SPEN	MPL	RPL15	DNM2	WT1	KCNJ10	REST	POLD1	GNAS	H19	BAX	PMS2	PRKAR1A	KCNH1	RNF6	RABL3	LIG4	OFD1	COL2A1	KIT	ADAMTS3	SLC25A13	GCM2	MS4A1	PIGL	CACNA1S	MINPP1	KRT17	SDHB	SMARCD1	RET	STAC3	TSC2	MYLK	KLLN	TERC	CALR	ABCB11	TRIP13	HSPA9	FANCE	MLH1	TFAP2A	PRCC	SH2D1A	SDHC	KRT6B	NLRP1	WRAP53	RAD51	PTEN	ARSA	ZFTA	LRP5	DCLRE1C	RPS19	TG	DNAJC21	GNAI3	SLC26A2	TET2	DNAJB11	XPA	RAD54B	UROD	TNFRSF13B	CXCR4	EP300	IL2RG	KIF1B	PSAP	SHH	VANGL1	TMEM127	PMVK	ABCD1	F13A1	KCNQ1OT1	CDKN1B	ATP6V1B2	AIP	BRCA1	CEL	KDM6B	NF1	SAMD9	EFL1	GAS1	RAD21	ERCC6	TLR2	G6PC1	SASH1	SLC6A17	CTBP1	SERPINA1	MAX	LAMA3	CDH1	CC2D2A	AR	F13B	TMC8	MT-ND5	DDB2	FGFR3	KRT6A	LZTR1	SHOX	RPL5	TNFSF12	FLT4	CTSC	PSENEN	IGF2	CD27	TJP2	KCNAB2	FGFR1	NUMA1	NPM1	SMAD4	HACE1	WASHC5	PDGFRA	STAT3	OCRL	SLC26A4	SEMA4A	HNF1A	CYLD	FGFR2	MSTO1	MDH2	CPLANE1	SETBP1	SUFU	SPINK1	MUTYH	NSUN2	TBXT	MAPK1	ADA	ACTG2	DLEC1	NAB2	ALX4	NOTCH1	SF3B1	STK11	XPC	CD79B	RTL1	COL7A1	RUNX1	CPOX	CPLX1	ITK	RNF43	CIB1	NFKB2	VPS16	SQSTM1	ATM	NR5A1	SMARCAD1	ASCL1	BRIP1	RECQL4	SCN11A	TUBB	KIF7	TAF1	MEG3	ADH5	PLA2G2A	TCTN3	WIPF1	EDNRB	MRAP	BRD4	PDGFRL	GPR101	SYK	GNB1	SEC23A	WDPCP	ERBB2	DMRT3	PDE6D	FLCN	DKC1	NOP10	POLH	UBE2T	CCBE1	FCHO1	MGMT	FH	TNFSF15	SOCS1	TINF2	HLA-DQB1	RPL31	ASCC1	SREBF1	CDC73	RFWD3	TGFBR2	TSR2	ERCC2	ENG	MC2R	SEMA3C	ACAN	TMC6	TAL2	AP3D1	TMEM67	RYR1	KLF6	BTK	PERP	IL7R	GATA2	YY1	KANSL1	SMARCA4	RAD51D	KRT5	ANTXR2	TCF4	DHH	LMOD1	IGKC	GPC4	INTU	MPLKIP	RAG1	LETM1	BUB1	FIBP	MSH6	NF2	KRIT1	ALG9	CD28	CASP10	MN1	RASA1	RNASEH2C	PTCH2	NEK1	CCND1	CARD14	PDGFRB	CHEK2	GNAQ	ZSWIM6	BUB1B	SH3KBP1	PHOX2B	LIN28B	DICER1	TRIM28	ABCC6	RPS20	PRF1	RAD54L	NRTN	HPGD	NDP	CCL2	IKZF1	TMEM107	RPS10	SH3GL1	CDON	HNF1B	OPCML	STAT1	PRDM16	IFNG	LPP	PTPN11	SDHA	EWSR1	IGLL1	NSD2	MYH8	STIM1	ARL6IP6	LRBA	ATP7A	GREM1	BCL6	CDKN2A	MEN1	ASXL1	VAMP7	RERE	ING1	SFTPC	SMARCD2	FLT3	PKD2	GJB2	KCNJ11	TAL1	KIAA0753	CR2	ERCC5	SPIB	LMNA	TGIF1	NOTCH3	PLCD1	BLM	FOXH1	ANTXR1	NEK9	PAX7	RAD51C	MLH3	TCOF1	BARD1	STAT6	BICC1	BMPR1A	CD96	RPS24	EPHB4	COL11A2	CREB1	PTH1R	TBX18	SAMD9L	ABL1	PPP1CB	FOXE1	SRSF2	CYP11B1	FAN1	GLI2	EXT1	LEMD3	IDH2	DAXX	TBX2	MT-TQ	TRPS1	IVNS1ABP	EDN3	PPOX	MITF	HFE	TYR	ARID2	LRP1	WWOX	SMO	CD79A	TBC1D24	GJC2	STAR	POFUT1	DOCK8	TMEM231	PGM3	PUF60	MBTPS2	FOXP1	IL7	UBE4B	WRN	EPHB2	CREBBP	HOXD13	LMO1	CEBPA	PRKN	FCN3	RNASEH2B	FZD2	SOX4	SMARCC2	SHOC2	AXIN2	NNT	TP63	VANGL2	EYA1	MMP23B	ECE1	MRE11	PLCB4	DLC1	GTF2H5	EIF2AK4	EVC	RHBDF2	ACD	ALK	ERBB3	GINS1	CARMIL2	SAMHD1	HRAS	SEC23B	IL1RN	B3GALT6	ALX1	FGFRL1	FGF8	MAP3K1	HMBS	CCM2	PCNA	FAT4	SEMA4D	DPF2	SOX6	NKX2-1	PTPRJ	CTHRC1	ACTB	MT-TF	NDUFAF6	GCK	THPO	PMS1	OCA2	RPL11	DCC	USP9X	PALB2	KRT16	DHCR24	IRF1	CHIC2	MT-TL1	PIEZO2	GJA1	PRKCD	ABCA5	SMAD7	BCL10	GJB4	LUZP1	MC1R	SRGAP1	MAP2K2	COL4A5	FDPS	ZAP70	TREX1	DHX37	GABRD	SKI	DLL1	KCNE3	HMMR	GCGR	CDK4	MSH2	MTAP	LZTS1	MALT1	WNT10A	NQO2	CDKN2B	MGAT2	CDKN1C	TRPV3	MNX1	MYH11	PDE8B	RNF139	PNP	KRT10	TOP2A	ASPSCR1	AXIN1	PBRM1	DYNC2H1	NODAL	RSPRY1	IL12A	RPL10	EVC2	NR4A3	ESCO2	CYSLTR2	CRKL	FANCG	SNAI2	IFIH1	SOX2	NEUROD1	POLR1D	SH2B3	RARA	RPL27	SPTBN1	DYNC2LI1	ETV6	L2HGDH	RNASEL	CASP8	PRKACA	TTC37	ARMC5	BLK	MEFV	PDX1	JAG1	FLI1	TERF2IP	SLCO2A1	DHCR7	CEP57	MSH3	STS	MYO1H	PKD1	RELA	GANAB	MYC	ZFPM2	GLI3	ADAR	FOXO1	CASR	FERMT1	C2CD3	AP2S1	COL4A6	SOS1	MXI1	CD19	IGF2R	KRT1	COL14A1	NSD1	IRF5	ICOS	CAT	PDCD10	ANAPC1	MSL3	NUP214	FAS	CTPS1	INS	STK4	KIF11	MSX2	XRCC2	GFI1	RNASEH2A	AGGF1	ADA2	MVK	ACP5	PORCN	PIGG	ZFHX3	MTOR	XRCC4	ABCC8	SMARCAL1	HNF4A	PAX4	SPRED1	PAX3	PRLR	RPS28	PRKCZ	INPP5E	MMP1	RPL35	MYCN	PALLD	MTMR14	WAS	MUC5B	TAF15	ECM1	MAD1L1	AURKA	HLA-DQA1	SLC12A3	MDM4	SLC37A4	TPP2	MAP3K8	SFTPA2	ALAD	CBL	GJB3	SLC25A11	RPS14	IL1B	CD70	KARS1	PDPN	PHKA2	SRC	RSPO1	FASLG	NHP2	TRIM37	SRY	TCIRG1	APC2	TMEM216	SMPD1	KEAP1	GPR143	MAP2K1	FOXC2	MAGT1	RASGRP1	TDGF1	SSX2	GPC6	CLCN2	SLX4	MAFA	COL1A1	NBEAL2	GDF2	DVL3	CHD7	CYP2D6	CD81	ELMO2	CTLA4	PDE11A	CCDC22	PCGF2	PARN	NOD2	GPR35	FGF3	CBFB	KLHDC8B	SLC17A9	KCNQ1	RAD50	RPS29	F5	CDKN2C	EGFR	EXTL3	NUTM1	GJB6	GBA	CD4	TNPO3	KLF11	BIN1	SKIV2L	RAG2	HAX1	TNFRSF10B	SCN9A	NELFA	CDKN1A	RHOH	POLR1C	RPL18	DZIP1L	PLAG1	HSCB	DNMT3A	ATR	MCC	RRAS2	XIAP	XRCC3	USP8	GTF2E2	EDN1	CLCNKB	FANCL	TNFRSF4	PHKG2	MLLT10	BCHE	SBDS	CYP11B2	ARHGAP26	TNFRSF1B	ARID1A	ACVRL1	KCNN3	PAX6	SIX3	BIRC3	SLC45A2	TOPORS	SOX11	POR	CTRC	GDNF	POU6F2	ATP7B	FANCB	UBA1	DVL1	FANCI	STAG3	NR0B1	BCL2	DDR2	ENPP1	USB1	DNASE1L3	ZIC2	GCDH	MAPRE2	FLNA	MFN2	C1S	IGHG2	KRT14	AAGAB	TEK	GNA14	IL6	ABCB4	BMP2	RPGRIP1L	WNT5A	FN1	DLK1	MYSM1	HLA-DRB1	SRD5A3	DDX41	MCM4	ACVR1	GDF5	FUZ	SOX9	SRP72	ATP2A2	BLNK	RB1CC1	GNPTAB	MMEL1	RPS17	RPS7	MST1R	KAT6B	FAM20C	SIX6	SCN4A	TNFRSF13C	GLI1	PPM1D	RPS27	TREM2	NFKB1	SETD2	LAMC2	CYP26C1	ELP1	DPM1	FOXI1	RAF1	APPL1	BUB3	GIMAP5	SEMA3D	FANCM	MT-RNR1	MT-TH	GATA4	MVD	NAGS	AHCY	TWIST1	COL18A1	PPP2R1B	RNF113A	TYROBP	HS2ST1	CASZ1	POLR1B	RPL26	PICALM	MT-TP	SIX1	PTPN12	MT-TS2	SLC2A2	MST1	IKBKG	BMPER	IPO8	EPAS1
HP_LYMPHOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LYMPHOMA	BCL6	FASLG	BCL10	CTLA4	DKC1	IL7R	RB1	ICOS	ITK	RNF43	RAG2	XRCC4	BCL2	CD19	TET2	PRKCD	DCLRE1C	PIK3R1	NFKB2	POLE	USB1	IL2RG	PMS2	APC	RECQL4	DNASE1L3	RASGRP1	SMARCAL1	LIG4	MAGT1	PNP	TNFRSF13B	KRAS	MLH1	RHOH	COL14A1	IGKC	PGM3	ATM	RAG1	ASXL1	MS4A1	CR2	FOXP1	CD28	CHD7	TNFRSF13C	RUNX1	CHEK2	IKZF3	XIAP	CTC1	CASP10	PTEN	IGHG2	BLM	WAS	WIPF1	TNFSF12	CD81	NRAS	AAGAB	TERC	DEF6	MSH6	SH2D1A	SYK	CD27	STAT3	HLA-DQA1	FAS	NFKB1	NOP10	NPM1	NBN	TNFRSF1B	PRF1	RMRP	RAD54L	TP63	SRSF2	FCHO1	NTHL1	TCF4	KLHDC8B	ADA	RAD54B	CDKN2A	KIF11	RTEL1	TP53	SOCS1	BIRC3	HLA-DQB1	CD70	ZAP70	NSUN2	TINF2	WRAP53	TERT	MDM2	HLA-DRB1	MYC	DDX41	NHP2	PARN	MYD88	LRBA	CCND1	KIT	MALT1
HP_PHEOCHROMOCYTOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHEOCHROMOCYTOMA	NF1	SDHC	SDHB	VHL	TSC1	RET	SDHD	KIF1B	PRKAR1A	CDKN2B	DNMT3A	DLST	SDHA	CDKN1B	MEN1	TSC2	TMEM127	SDHAF2	CDKN2C	EPAS1	SLC25A11	MAX	FH	CDKN1A	CCND1	MDH2
HP_PARAGANGLIOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARAGANGLIOMA	NF1	SDHC	SDHB	SDHD	VHL	RET	ATRX	KIF1B	DNMT3A	DLST	SDHAF2	SDHA	DAXX	TMEM127	SLC25A11	EPAS1	MAX	FH	CCND1	MDH2
HP_OSTEOSARCOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOSARCOMA	RPL31	RECQL4	RPL15	RPS28	RPS24	RB1	GATA1	RPS15A	RPL35	RPS29	CHEK2	TP53	RPS20	RPS19	WRN	TSR2	ADA2	RPL11	RPL5	MDM2	RPL27	LMNA	ANAPC1	SQSTM1	MTAP	RPL26	RPS27	RPL35A	RPS10	RPL18	RPS17	RPS7	CDKN2A	RPS26
HP_BASAL_CELL_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BASAL_CELL_CARCINOMA	WNT10A	FASLG	SUFU	FAS	TYR	MSH6	POLH	CIB1	SMO	RPS20	KEAP1	PRKCD	HRAS	PTCH1	MLH3	ERCC3	APC	MC1R	NTHL1	TGFBR2	BMPR1A	RASGRP1	RECQL4	ERCC2	SEMA4A	PTCH2	MLH1	CYLD	XPC	ERCC4	FAN1	MSH2	COL14A1	KRAS	PMS1	DICER1	RASA1	EPCAM	PMS2	NRAS	LMNA	OCA2	DDB2	ERCC5	CASP10	PIK3CA	TMC6	AAGAB	ANAPC1
HP_GASTROINTESTINAL_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROINTESTINAL_CARCINOMA	BUB1B	NRAS	PIK3CA	STK11	RPL15	RPS24	CTNNB1	TLR2	GATA1	APC	PTPN12	POLE	POLD1	RPS20	AXIN2	GPR35	SMAD4	BAX	ADA2	PMS2	RPS19	TGFBR2	NTHL1	MST1	RPL27	BMPR1A	BRAF	RAD54B	SEMA4D	MLH1	MLH3	MSH6	CHEK2	TCF4	RPL35A	RPS10	RPL18	RPS17	RPS7	COL14A1	PTPRJ	RPS26	RPL31	AKT1	RPS28	TP53	DLC1	BUB1	EPCAM	RPS15A	MCC	RPL35	RPS29	MSH2	SRC	PLA2G2A	TSR2	RPL11	DCC	WRN	RPL5	MUTYH	FLCN	FGFR3	AAGAB	RPL26	EP300	RPS27	CCND1	PDGFRL	AURKA	GREM1
HP_COXA_VALGA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COXA_VALGA	CANT1	RTL1	COL9A2	ORC1	COL2A1	AFF3	SLC12A2	BCR	TGFB3	SIL1	FZD2	COL1A1	EED	B4GALT7	XYLT1	MGAT2	EXTL3	GALNS	KCNJ8	COL1A2	WNT5A	ABCC9	RBM8A	SLC10A7	COG1	CCDC47	ENPP1	COG4	B3GALT6	COL9A1	HSPG2	ATP7A	ADAMTS2	NGLY1	ERCC6	SLC35A2	EIF2AK3	COL11A1	COG8	TGFB1	NFIX	COL9A3	EZH2	BGN	FUCA1	FLNA	POP1	EXT1	GJB2	PDE4D	STXBP1	DVL3	DLK1	ZMPSTE24	GLB1	EXT2	IFIH1	OTUD5	MEG3	ARID1B	MAPK1	RAB23	LMX1B	ARCN1	MAN2B1	SHOX	MIR140	INPP5K	ADAMTSL2	KDELR2	RPS6KA3	CRKL	GJB6	TRIP11	GTF2E2	LMNA	IDUA	DVL1	ATRX	SLC2A10	GLI3
HP_CLOVERLEAF_SKULL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLOVERLEAF_SKULL	FGFR1	FGFR2	FGFR3	EXTL3	RAB23	POR	WDR35	MEGF8
HP_SMALL_FORAMEN_MAGNUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_FORAMEN_MAGNUM	ELN	FGFR3	FBLN5	RSPRY1	ALDH18A1	FLNB
HP_SKULL_ASYMMETRY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKULL_ASYMMETRY	RSPRY1	MASP1	FTO	TWIST1	FGFR2	RAD21
HP_ABNORMAL_SELLA_TURCICA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SELLA_TURCICA_MORPHOLOGY	ZSWIM6	NKX2-1	MAF	SLC17A5	SUFU	DYM	MTX2	BMP4	STUB1	PLOD3	CDH23	TSHB	PTCH1	USP8	MAN2B1	OBSL1	TRIM37	ABCC9	NOTCH2	PCNT	CDH11	GNPTAB	RMRP	VPS33A	LHX4	IDUA	GLB1	PTCH2	ADAMTSL2	GUSB
HP_J_SHAPED_SELLA_TURCICA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_J_SHAPED_SELLA_TURCICA	MAF	OBSL1	SLC17A5	TRIM37	GNPTAB	MTX2	RMRP	VPS33A	PLOD3	IDUA	ADAMTSL2	GUSB
HP_DEFORMED_SELLA_TURCICA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEFORMED_SELLA_TURCICA	MAF	OBSL1	SLC17A5	TRIM37	SUFU	NOTCH2	DYM	GNPTAB	MTX2	RMRP	VPS33A	PLOD3	IDUA	PTCH2	ADAMTSL2	GUSB	PTCH1
HP_ABNORMALITY_OF_THE_CALVARIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CALVARIA	RERE	NDE1	ELN	FAM111A	OFD1	UNC80	KAT6A	NALCN	CDKN1C	RTTN	NDN	RB1	PDX1	MSX2	SMG8	MGAT2	SALL4	DPM2	RAC3	GPC3	CKAP2L	AGA	FREM1	HRAS	IL6ST	TCIRG1	FANCC	CEP120	PEX3	HSPG2	PLA2G6	SPRTN	EXT2	CEP41	TSHR	FBN2	TMEM67	CDH2	PHF21A	HDAC4	FAM149B1	PAK1	PIGW	RUNX2	TGFB1	ZMPSTE24	ERCC3	AIP	FANCF	CTU2	KATNB1	ERCC4	TTC26	TCF12	FANCD2	ERCC2	LRP2	RBM10	LIFR	FH	GCK	KRAS	CTSD	FZD2	DSE	TECPR2	WDR19	TWIST1	FGFR1	CTSK	EBF3	RSPRY1	BMS1	TBCD	LRP5	MYCN	RPL10	PTEN	DMP1	LBR	GORAB	ESCO2	TOGARAM1	SHPK	ADK	FGFR2	SPTA1	PCLO	SLC6A9	MITF	FRAS1	TG	ATP7A	SC5D	SNAI2	IFIH1	DDX59	SMC3	TBX4	CHST3	EHMT1	PNPLA6	MBTPS2	DPYS	HPGD	EDA	GMNN	NAA10	NRAS	B4GALT7	SOX2	ERCC1	NLRP3	GLI3	STAT3	CPLX1	FREM2	CRPPA	POLR1D	RMRP	ATP6V1A	MAD2L2	SHANK3	MED13L	FANCA	SETBP1	CYP26B1	COG4	SKI	KMT2C	CLCN3	PEX6	SMC1A	TGFBR1	TONSL	WNT7A	SPTBN1	KNSTRN	FGFR3	DHX37	SGSH	DDX6	ALMS1	TCF20	FAM20C	BRAF	RAI1	GJA1	SMOC1	DYNC2I1	NFKBIA	NIPBL	D2HGDH	CD96	EDARADD	FLNA	PEX12	FUCA1	IFT81	SOX5	PDE4D	PIK3CA	HDAC6	TARS1	SMS	IGF2	WDR35	IFT43	CSPP1	PLOD2	GATA1	ZDHHC9	SUFU	RNU4ATAC	KATNIP	NPAP1	ALDH6A1	GALNT2	TGFBR2	CREBBP	GNPTAB	PTRH2	TRIP11	RAB3GAP2	PPP1R12A	FLT4	CEP57	RPS6KA3	TMCO1	PEX11B	FTO	HBB	PEX16	FIG4	ERGIC1	PKDCC	CENPJ	PLOD1	SPEN	PDHX	ZIC1	ADAT3	ENPP1	LONP1	RAD21	PIK3R2	ADAR	LEMD3	ERF	TENT5A	SNRPN	TBX1	FERMT1	C2CD3	ATP6V1B2	MAN2B1	PEX13	VARS1	LIG4	SYT1	INPP5E	KIT	ADAMTS3	BMP1	MEGF8	UBE3B	SIK3	RIPPLY2	RAB39B	NKX2-5	PEX26	OCA2	PAM16	CEP104	BRD4	MS4A1	SOST	RAB18	PIGL	NSD1	DOCK6	PEX5	GLIS3	OTUD5	CSGALNACT1	ICOS	RETREG1	KCNK9	EPB41L1	ERCC6	POLA1	ITCH	GATA5	MAGEL2	GTF2E2	FANCE	SATB2	MSL3	COL1A2	SLC2A10	TFAP2A	TLK2	FLI1	SNX10	PEX14	GDF1	GNE	EMC10	AASS	DEAF1	ALX4	KIF11	TAPT1	PTCH1	SLC26A4	CCNQ	ZIC2	PTDSS1	MASP1	CCDC8	MKS1	PIGT	MED27	IL11RA	SNORD115-1	DLL4	DYNC1H1	TMEM138	TRIP13	GJA5	EP300	KLHL40	HYMAI	DVL3	MESD	SETD5	PSAT1	GPX4	TAF1	PIGQ	ALG14	COL1A1	XRCC2	PRKCD	HNRNPK	RNF216	ETFA	ACTB	RNASEH2A	KIAA0753	AFF4	COX4I1	CDK8	BRCA1	KCNJ11	LRP4	TCTN2	KDM6B	ORC1	PIGG	SUPT16H	HDAC8	ALDH18A1	ORC4	KDM4B	FLNB	PURA	ATIC	IFT122	MTOR	XRCC4	NOVA2	ETFDH	CD19	TSHB	HERC2	CTCF	CTBP1	RYR1	C12orf57	CEP152	GLB1	ACTG1	HSPA9	COL11A2	CC2D2A	NUP188	ANTXR1	PRKAR1A	GNAS	MAN1B1	TMEM216	ALG12	PEX7	PIGN	PRKCZ	DCHS1	HNRNPA2B1	AMER1	CPLANE1	UGP2	ZNF148	IDUA	MESP2	SCUBE3	PPP2R1A	TNFSF12	ALPL	VDR	UFD1	SEC24D	CCBE1	DDX3X	BRWD3	ADAMTSL1	CENPE	ARID2	BPNT2	MTM1	XPA	RALGAPA1	DIS3L2	LHX4	TFAP2B	HIRA	CRIPT	LMNA	PALB2	KCNAB2	ERCC8	INPPL1	FHL1	CBL	WASHC5	SLC39A14	CLCN7	FANCG	PAX8	OCRL	PEX19	FBN1	CNTN1	TANC2	SLC39A13	CUL7	SHOX	HERC1	SMO	B9D1	PDPN	NOTCH1	HGSNAT	NSUN2	TNFRSF11B	TBXAS1	RAB23	DUOXA2	RAF1	PDGFRB	UBR1	SEC24C	MAPK1	PAFAH1B1	TRIM37	CDC45	XPC	TUBGCP6	RTL1	APC2	PEX1	POR	POGZ	SLC35D1	SIX2	KMT2E	REN	EFTUD2	NUP85	DDB2	NFKB2	KIAA0586	MAP2K1	ZNF423	USP7	SNAP29	TAB2	PHF6	FOXF1	UBE3A	DYM	KMT2A	FKBP10	GPC6	PGAP3	SLX4	UGDH	CNOT3	TALDO1	ANKH	TUBB	RNPC3	COLEC11	KIAA1109	HBA2	KIF7	SMAD6	MEG3	ADH5	ACTA1	LHX1	PI4KA	EBP	NOTCH2	ANKRD11	MIR140	KPTN	CD81	ERMARD	PLK4	CHD1	CUL4B	CRTAP	ARID1B	SNX14	GPR101	ATP6V0A2	ROR2	MEN1	ABCC8	HOXD13	MPDU1	TCTN3	CCDC22	SEC23A	WNK1	PCGF2	RPGRIP1L	PDE6D	HYLS1	DUOX2	UBE2T	HESX1	SCN9A	PRUNE1	DENND5A	PDHB	PEX2	HEPHL1	CHST14	FBLN5	ARL3	ZNF292	ASXL3	ALG9	SLC35A2	MBD5	INTS1	MOCS2	RELN	KCNQ1	ADSL	TMEM231	PPP3CA	TRAIP	EDAR	TTC8	TTC37	MAP3K7	MED12	RFWD3	SON	B3GLCT	GRIA3	PYCR1	SLC5A5	CA2	NEK1	RREB1	IQSEC2	ACAN	MN1	MOCS1	EXTL3	SH3PXD2B	COX4I2	RBM8A	OTUD6B	DVL1	SPECC1L	TRIO	ORC6	EPB41	CWC27	SMAD4	CHD3	TGFB3	COMT	EXOC6B	COLEC10	TMEM237	CITED2	CDC6	FLCN	RAD51	SFRP4	PDHA1	GBA	HK1	KANSL1	DPM1	FRMPD4	KIDINS220	PREPL	INS	NKX2-6	LMNB1	KCNQ1OT1	ZNHIT3	FBXO11	KRT5	KDM1A	YY1	RPS23	TOR1A	AHDC1	NELFA	POLR1C	AGT	AHI1	GPC4	SET	ATAD3A	INTU	MPLKIP	COX5A	MMP2	ALG1	LETM1	GATA4	ARHGAP31	DDR2	OBSL1	NFIX	FOXE1	SLC29A3	MADD	FANCL	SLC26A2	RNASEH2C	TBX6	PTCH2	FOXG1	PLAG1	MID1	ZSWIM6	TUBGCP4	CHD4	SLC25A24	TBCK	AKT3	PTPN11	DICER1	NAGLU	RECQL4	EFNB1	HNRNPU	BUB1B	MTX2	PLEC	ZEB2	WDR73	SMG9	TBCE	MYH3	SLC3A1	COL5A1	IYD	MKRN3	TBC1D7	IKBKG	NEPRO	TOPORS	IFT140	NPHP1	PPM1B	KIF1A	ATRX	PIGV	PRDM16	IFITM5	NKX2-1	SMAD3	NXN	POU1F1	RAB3GAP1	LMNB2	IFT52	NSD2	COL11A1	FANCB	FAT4	TBL1XR1	AKT1	MAP1B	FANCI	PRMT7	HBA1	ANKRD17	ASXL1	POLR2A	KYNU	KLHL41	USP9X	SLC17A5	TDP2	GYPC	BICRA	IRX5	HMGA2	BMP4	KCNJ1	CASK	CR2	ERCC5	ATR	KCNJ2	MCOLN1	PGAP2	STAC3	PIK3R1	NTNG2	RPS19	ETFB	HNF1B	PLAGL1	PHEX	CYP2R1	CNTNAP1	KRT14	TBC1D20	NONO	ZBTB20	LRPPRC	NBAS	RAD51C	CDK10	AGTR1	TCOF1	ABCC9	ADARB1	DLL3	DLX3	NEB	BMPR1A	TNFRSF11A	PPIB	FLII	SLC34A3	SPOP	MAF	THRA	FKTN	WNT5A	PPP1CB	PIK3CD	PTH1R	ARX	DHCR24	SMARCA2	BUB1	WAC	SETD1B	ZFHX4	TRPS1	ZNF462	ARL13B	CHRNG	ARSB	PIGO	GRIN1	ACOX1	SATB1	DLK1	MYSM1	ACE	COL25A1	H19	BRCA2	WBP11	DYNC2H1	TBX2	GRIP1	CDT1	GP1BB	AGO2	SNORD116-1	YWHAE	PQBP1	GATAD2B	NOTCH3	FGF9	EOGT	MOGS	LMOD3	GDF11	DONSON	VPS35L	SOX9	PLEKHM1	MCTP2	NLGN4X	TBC1D24	APC	PRPS1	CYFIP2	NPR2	TNFRSF13B	CAMKMT	SLC39A8	SLC12A6	VAC14	KAT6B	PROP1	HSD17B4	PIBF1	ITGB4	SIX6	SGMS2	UBE4B	TCTN1	LMX1B	SLC35A1	ARCN1	ARVCF	KDR	VCP	CDH11	ZNF142	KDM5B	HUWE1	RNF125	DDB1	MPDZ	CNOT1	ZNF699	AP1S2	NSMCE3	BCL11B	RNASEH2B	LHX3	JAG1	CEP290	CHRNA7	NFKB1	SETD2	TBX15	GNPAT	NANS	TET3	RAC1	MECP2	TRAPPC9	LFNG	TUBB3	SP7	CHSY1	MYMK	VANGL2	MMP23B	POLR3A	KIF15	SPTB	TNFSF11	GTF2H5	STXBP1	GNB2	STAG2	UPF3B	BUB3	LARS1	PWAR1	AP1G1	RBBP8	NPHP3	MAFB	CHN1	SAMHD1	GJA8	FANCM	CHUK	ADNP	DHCR7	MVK	B3GALT6	ALX1	FGFRL1	GNS	ADAMTS10	GK	CYP27B1	FBXL4	HCFC1	DPH1	POLE	CCDC47	PPP2CA	BRIP1	PTHLH	FMR1	EXOC8	NCAPG2	ACP5	P3H1	PPP2R5D	AIFM1	PEX10	SOX6	DYNC2I2	ARHGEF9	ATRIP	CBY1	B3GAT3	RNF135	SRD5A3	SCARF2	P4HB	ALG8	COL18A1	OPHN1	RNF113A	MEIS2	CASZ1	ADAMTS2	NEU1	POLR1B	KDELR2	MTHFR	TMEM70	DMXL2	HNRNPA1	PCNT	ZFPM2	PIEZO2	NGLY1	JMJD1C	AUTS2	ARMC9	BLM	SH2B1	TNFRSF13C	KCNJ5	ATP6V1E1	LUZP1	BANF1	TPO	HES7	SETD1A	PWRN1	MAP2K2	BMPER	B9D2	TGFB2	IPO8	CTNS	PIGA	SMARCD1	ASPA	GATA6	GABRD	THOC2	DPYSL5	MMP14	PIGY	IFT80	LEMD2	PPP1R21	EIF5A	PRKG2	IDS	RBPJ	METTL23	TREX1	EDA2R	DPF2	BGN	ZC4H2
HP_THICKENED_CALVARIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICKENED_CALVARIA	FLNA	NONO	SMAD4	GNAS	HPGD	TMEM67	RUNX2	CA2	COL11A1	AGA	AMER1	PDE4D	TNFRSF11B	LRP5	ERCC8	SFRP4	SGMS2	PLEKHM1	ERCC6	MAN2B1	PTDSS1	SLC17A5	PHF6	PTH1R	CDH11	SMS	DYM	RPS6KA3	GLB1	DVL1	GNPTAB	SNX14	AP1S2	POLR3A
HP_PRENATAL_MATERNAL_ABNORMALITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRENATAL_MATERNAL_ABNORMALITY	HYDIN	ARNT2	GAS1	ZMYND10	TGFBR1	DRC1	LOX	HADHB	FGF8	CCDC40	CFH	SOX2	KCNJ11	MAT2A	DNAH5	ABCB4	COL2A1	ELN	STK36	HBA1	DNAAF11	DNAAF2	SPAG1	ODAD1	DNAL1	TTC12	CCDC39	CCNO	TSHR	STOX1	TDGF1	HADHA	PRKG1	CD46	CFAP298	FOXJ1	NR1H4	ZIC2	DNAAF4	ACTA2	ODAD4	DNAAF5	LRRC56	GAS8	RPGR	HELLPAR	RSPH4A	ADGRG6	NODAL	TGIF1	CORIN	SLC25A20	RSPH1	DNAAF3	DUOX2	DNAH9	CPT1A	FGFR1	CCDC65	SERPINC1	NECTIN1	CFI	MTHFR	LBR	OFD1	TGFBR2	FOXH1	CLCNKB	HESX1	LMNA	CYP11A1	FBN1	DNAI2	PAH	NKX2-5	SPEF2	PLAGL1	MFAP5	DNAH1	HYMAI	ABCC8	VANGL1	PPARG	SLC12A3	IRF6	SMAD3	DNAI1	VANGL2	RSPH3	MCIDAS	ABCB11	POR	SMAD4	MME	CYP11B2	CYP11B1	RNF13	GJA1	GAS2L2	HBA2	HNF1A	FCGR3B	CCDC103	SMAD2	PTCH1	CFAP300	NR3C2	FDXR	SPTBN1	RSPH9	SLC35A2	TGFB2	FOXE3	ODAD2	DHPS	SIX3	FUZ	SOX3	DNAAF1	TP63	GLI2	CDON	OTX2	MYLK	NEK10	F5	ATP8B1	ODAD3	EP300	SUFU	CTRC	SHH	TGFB3	DLL1	CYP19A1	PROKR2	HEY2	DNAJB13	SPINK1	DNAH11	ZFP57	MYH11	NME8	DISP1	NOS3	MSX1	CFAP221	DNAAF6
HP_ABNORMALITY_OF_FRONTAL_SINUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FRONTAL_SINUS	FLNA	DNAI1	MPDU1	NOTCH2	RUNX2	COL11A1	AGA	ALX1	SIX2	ALX3	TRIM37	SFRP4	CTSK	ATRX	KCNJ2
HP_ABSENT_FRONTAL_SINUSES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_FRONTAL_SINUSES	DNAI1	TRIM37	CTSK	NOTCH2	RUNX2	COL11A1	FLNA	ATRX
HP_LARGE_SELLA_TURCICA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_SELLA_TURCICA	ZSWIM6	CDH23	GLB1	ABCC9	PCNT	GNPTAB	TSHB	USP8
HP_PLATYBASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PLATYBASIA	TBX1	SIK3	ARVCF	SEC24C	RREB1	COMT	COL1A2	NOTCH2	GP1BB	NOTCH3	UFD1	HIRA	SH2B1	FLNB	COL1A1	JMJD1C
HP_HYPOPLASTIC_FACIAL_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_FACIAL_BONES	MLXIPL	GTF2IRD2	OFD1	COL11A1	ALX1	FGFR1	TWIST2	VPS37D	POLR1D	ELN	FIG4	BCL7B	MAP2K1	TMEM270	GTF2I	CEP120	NCF1	RFC2	DYM	LIMK1	FGFR2	EIF4H	MAP2K2	VANGL2	RUNX2	SMOC1	POLR1C	PEPD	FKBP6	STX1A	SF3B4	CHD7	BAZ1B	GLI2	SEMA3E	VPS13B	KRAS	METTL27	NECTIN1	TBL2	CLIP2	POLR1B	PTCH1	NOTCH2	MTHFR	BUD23	GTF2IRD1	DNAJC30	CNOT1	TCOF1	BRAF
HP_ABNORMALITY_OF_THE_SKULL_BASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_SKULL_BASE	B9D1	FKTN	OFD1	TIMMDC1	ABAT	B3GALNT2	TMEM216	ARID2	CDKN1C	KRAS	CDC42	CEP120	TBC1D24	EBP	MYF5	KCNQ1OT1	C2CD3	DAG1	IGF2	TCTN2	ANKH	CDH2	TMEM231	AMER1	RXYLT1	MAB21L1	VPS51	RAPSN	CSPP1	TMEM237	VSX1	SMARCA4	FKRP	SEMA3E	ABCC9	ARMC9	LARGE1	CREBBP	EDEM3	ACADVL	CPT2	FAR1	NSD1	MID1	ZSWIM6	PHGDH	POMT1	PACS2	RAC1	SLC35A2	KATNB1	DKK1	FOXC1	SOX4	NOTCH3	NRAS	SMARCB1	CEP290	FGFR1	SETD2	SMARCC2	TBX15	CRPPA	SLC5A6	BUB1B	ATP6V1A	ZEB2	COG1	ALG3	WDR73	HYLS1	SMG9	WASHC5	ARID1A	COL4A1	TMEM67	POLR3A	RPGRIP1L	PITX1	DYNC2I1	POMGNT2	SETBP1	SOX11	PLG	FLNA	GJB2	SMARCE1	ARID1B	POGZ	CHD7	GDF6	RPGRIP1	PIGN	MKS1	PTDSS1	BUB3	POMT2	DHCR7	COL1A2	BRF1	ALDH7A1	CEP57	NPHP3	FTO	ATP6V1B2	HRAS	RTL1	GPC3	SOX3	B9D2	APC2	AFF3	ZIC1	B3GALT6	ASXL1	SIX2	MRE11	POLR2A	OPHN1	GNAS	DPH1	KIAA0586	USP9X	MAN2B1	ACP5	ATP6V0A2	DPF2	TGFB1	DYNC2I2	SIK3	CNOT3	ZBTB20	TMEM138	DOK7	TUBB	RNF113A	CCDC22	KIF7	SMARCD1	MEG3	PUF60	TCTN3	POMGNT1	B4GALT1	NOTCH2	MIR140	FGFR2	EVC2	LBR	SLC18A3	TXNDC15	PMM2	POMK	TCTN1	PIEZO2	EVC	FLVCR2	PLPBP	SLC13A5	PMPCA	SH2B1	PPP1CB	EP300	DENND5A	GLI3	ATP6V1E1	NUP88	BANF1	TMEM107	B4GAT1	BUB1	KCNQ1	PIGU	GPC4	WDR81	FUZ	TRIP13	ALX4	AP1S2	CC2D2A	MAP3K7	MUSK	DLK1	DPYSL5	PTH1R	IFT80	ALDH18A1	MSX2	DYNC2H1	NDUFC2	SH3PXD2B	GJB6	RFT1	MYOD1	BCOR	WDR35	COL1A1	FLNB
HP_SCLEROSIS_OF_SKULL_BASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCLEROSIS_OF_SKULL_BASE	SIK3	RTL1	PTDSS1	SETBP1	FLNA	NOTCH3	MAP3K7	ACP5	ANKH	DLK1	LBR	TGFB1	MEG3	AMER1
HP_ABNORMAL_PARIETAL_BONE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PARIETAL_BONE_MORPHOLOGY	MSX2	SUFU	EP300	MPDU1	RUNX2	ALX4	PTPN11	PIGO	PGAP2	TWIST1	PIGY	RPS19	FGFR3	PTCH1	FIG4	PIGV	PIGL	EXT2	CREBBP	FGFR2	PHF21A	PTCH2	PIGW	POLR3A	KRAS	VAC14	PGAP3
HP_PARIETAL_FORAMINA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARIETAL_FORAMINA	ALX4	PHF21A	MSX2	EP300	TWIST1	EXT2	CREBBP	RPS19	FGFR2
HP_ABNORMAL_FORAMEN_MAGNUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FORAMEN_MAGNUM_MORPHOLOGY	ELN	EP300	RUNX2	GPSM2	FBLN5	FGFR3	ALDH18A1	CREBBP	FLNA	RSPRY1	RAB23	FLNB
HP_LARGE_FORAMEN_MAGNUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_FORAMEN_MAGNUM	EP300	RUNX2	GPSM2	RAB23	CREBBP	FLNA
HP_ABNORMALITY_OF_SKULL_OSSIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SKULL_OSSIFICATION	TRIP11	FGFR2	INTU	PPIB	SLC25A24	SEC23A	NAGLU	HGSNAT	SLC25A19	HDAC6	ZMPSTE24	LMNA	OSTM1	COL2A1	TAPT1	FIG4	FAM111A	LBR	ALX4	COL1A1	EXT2	ALPL	COL1A2	NOTCH2	WNT7A	HHAT	P3H1	MPL	ALG9	PHF21A	SGSH	VCP	TBCE	THPO	CRTAP	RUNX2	IFT43	ANTXR1	VAC14
HP_HIGH_NARROW_PALATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_NARROW_PALATE	GPC3	ORC1	PLOD1	CHD3	SPEN	RUNX2	TGFBR1	LOX	ORC4	CDC6	CCDC28B	GIPC1	MAT2A	BRAF	DPM1	KCNJ6	ELN	SMARCA2	VPS13B	SLC6A17	APC	GMNN	ABCC6	SPRED1	PRKG1	ERCC3	GNE	HECW2	VAC14	MPLKIP	NEB	ACTA2	DDX59	AMER1	SCARF2	NSD1	DVL3	PTEN	COL3A1	ANTXR1	KLHL41	KCNK9	RNF113A	HNRNPK	GTF2E2	TCTN3	TGFBR2	ERMARD	NONO	CRKL	FOXP2	CDK10	PCLO	FBN1	BBS1	COL11A1	SIN3A	MFAP5	ARID2	PIEZO2	PIGT	IFT122	SLC25A24	BMPR1A	UBE3B	TBCK	BCR	INTU	FGFR3	CCDC22	FZD2	DIS3L2	TPM3	SMAD3	NAA10	TBX1	ACTA1	SMAD4	WNT5A	ARL6	PTPN11	TAOK1	MAP2K1	SMG9	SMAD2	WASHC5	PTDSS1	COPB1	ATP7A	PEX1	MED12L	SMS	SPTBN1	ATN1	TGFB2	FOXE3	NOTCH2NLC	CNTN1	IPO8	GPC4	NIPBL	MYLK	MED25	SKI	ASXL3	GTF2H5	POR	TARS1	MCM3AP	TGFB3	TAF1	MAPK1	COL12A1	HEY2	MUSK	CDT1	MAP3K7	PEX5	ERCC2	WNT7A	BCOR	CPT2	MYH11	RECQL4	DVL1	CDC45	RET	LRP4	FIG4	ORC6	TWIST2	NOTCH3
HP_DOWNTURNED_CORNERS_OF_MOUTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DOWNTURNED_CORNERS_OF_MOUTH	PIGG	KAT6A	COLEC10	HDAC8	KDM4B	NDN	SRCAP	PDX1	STAT3	NOVA2	SNRPN	CDC42	INS	TBC1D24	EXT2	CTBP1	ROR2	FBXO11	KDM1A	TRIP12	HDAC4	TWIST2	PIGW	NELFA	HMGA2	LETM1	GCK	DLK1	CHRNG	EBF3	IGF2	NSD2	PACS1	BRPF1	PIGL	NEXMIF	CDH11	NOTCH2	PHF21A	COLEC11	PCLO	DVL3	SC5D	SMC3	PIGT	PACS2	SMC1A	FZD2	PPP1R15B	CPLX1	WDR4	PIGV	CSNK2B	TRAPPC9	ATP1A3	DHX37	KIAA0753	CACNA1A	TCF20	MKRN3	POLR3A	KIF15	NIPBL	TASP1	SETD5	MAGEL2	ZNF407	OCA2	TELO2	POGZ	GNB2	HS6ST2	ZSWIM6	ABCC8	MEF2C	NXN	HOXB1	KCNJ11	ALX4	NPAP1	ERF	PWAR1	FAT4	DVL1	ATP6V1B2	ZPR1	AFF3	DCHS1	FGFRL1	RAD21	EEF1A2	GK	LEMD3	EHMT1	CCDC47	AFF4	KCNH1	HNRNPK	PGAP3	PRR12	CNOT3	ZBTB20	SIM1	BRD4	RAB18	PGAP2	STAC3	PIK3R1	NTNG2	FOXP1	SON	MIR140	EIF2S3	LMBR1	WDR37	UBE2A	MSL3	RNU4ATAC	RTL1	MEG3	MAFB	KAT8	MED13L	ATP1A2	PLOD3	PIGO	HERC2	WNT5A	HACE1	MED12L	TRMT10A	MASP1	PWRN1	WAC	MBD5	INTS1	SLC1A3	SNORD115-1	PIGU	ZMYM2	PIGA	SHMT2	SMARCD1	RLIM	PIGY	PIGQ	SNORD116-1	KCNMA1	GPC4	ZC4H2
HP_ADRENAL_OVERACTIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADRENAL_OVERACTIVITY	TP53	PRKAR1A	GNAS	NR3C2	PDE11A	MEN1	SLC12A3	HTR1A	KCNJ5	CDKN2B	SCNN1G	BSND	SLC12A1	CDH23	CYP11B2	CYP11B1	CYP11A1	CACNA1D	INSR	PDE8B	KCNJ16	OCRL	ARMC5	KCNJ10	PRKACA	CDKN1A	CLCN2	SCNN1B	SLC26A3	KCNJ11	SCNN1A	KCNJ1	KCNJ2	CDKN1B	AIRE	CLCNKB	USP8	CDKN2C	NR3C1	CLCNKA	RET
HP_RECURRENT_BACTERIAL_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_BACTERIAL_INFECTIONS	HYDIN	CIITA	RAG1	EFL1	ZMYND10	DRC1	ICOS	CCDC40	GFI1	CD8A	TBX20	HAX1	RFXANK	CFTR	PIK3R1	PSEN1	DNAAF2	TTC12	PNP	LAMA3	C6	DOCK8	NKX2-5	CFB	CFAP298	IGKC	PGM3	MALT1	AICDA	ODAD4	LRRC56	GAS8	TNFRSF13C	CXCR4	WAS	RSPH1	CD40LG	DNAAF3	IKZF3	SLC35A1	OFD1	IKBKG	IL17RA	DEF6	BLNK	CTSC	NTRK1	MS4A1	ITGB2	FCN3	SPEF2	DNAH1	CD81	SH3KBP1	IGLL1	SLC37A4	DNAI1	RSPH3	CFI	MCIDAS	STAT3	SAMD9	LAMC2	C7	TBCE	CFAP300	PSENEN	MYD88	KNSTRN	RSPH9	ELANE	LAMB3	LYST	IKZF1	SRP54	IL10RA	LCP2	CR2	DNAAF1	IGHM	GATA4	UROS	ODAD3	GJB2	SBDS	TLL1	DNAJB13	DNAJC21	SCNN1B	STAT1	RPGR	STIM1	CD79A	CFH	TCIRG1	CARMIL2	DNAAF6	CYBA	SCNN1G	IL12RB1	HBB	DNAH5	NHEJ1	G6PC3	RAG2	STK36	RFXAP	DNAAF11	EGFR	MAN2B1	SPAG1	ODAD1	DNASE1L3	DNAL1	IFNGR1	CCDC39	CCNO	IRAK4	RFX5	CD19	SCNN1A	SMARCD2	CD40	CYBB	TYK2	CD79B	FOXJ1	ISG15	FERMT3	DNAAF4	C8B	UNG	DNAAF5	C5	RSPH4A	CITED2	IL2RA	DNAH9	CCDC65	JAGN1	NCF2	IGHG2	AP3B1	UBE2A	DNAI2	NCF1	MBTPS2	MYH6	ACTC1	ATP6AP1	C3	CEBPE	UROD	IFNGR2	CFD	DCLRE1C	GATA6	GAS2L2	BTK	ADAM17	CCDC103	PIK3CD	ODAD2	ADA	STK4	TNFRSF13B	ANTXR2	NEK10	MBL2	IL2RG	ZAP70	GATA1	EPG5	SLC7A7	DNAH11	GATA2	NME8	GJB6	RAB27A	CFAP221
HP_DECREASED_CIRCULATING_IGA_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_IGA_LEVEL	MOGS	HLA-DQA1	REL	ICOS	CARD11	CD3E	BLM	MTOR	DCLRE1C	RAG2	IL2RG	CAVIN1	PIK3CD	CR2	TNFRSF13B	KNSTRN	CD19	CTLA4	ADA	IPO8	CD40	PMM2	TCN2	PLCG2	HLA-DQB1	IGKC	AICDA	CSNK2A1	UNG	JAK3	TNFRSF13C	CD3D	CD40LG	IL2RA	NFKB2	BACH2	IGHG2	CD247	DNMT3B	ITCH	IVNS1ABP	RNF168	TOM1	IRF2BP2	ATM	LRBA	ATP6AP1	CASP8	PIGT	SYK	RAG1	TNFRSF11A
HP_IMMUNODEFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMMUNODEFICIENCY	EFL1	SPATA5	LCK	DKC1	IL7R	COMT	TBCE	RTEL1	ICOS	SKIV2L	RAG2	XRCC4	PIK3CD	CD19	JAK3	CDC42	HBB	IKBKB	PIK3R1	RAG1	CD79A	TICAM1	ZBTB24	NFE2L2	AK2	LYST	CTBP1	SMARCAL1	PNP	TNFRSF13B	BLNK	DCLRE1C	TCF3	LAMTOR2	ALG1	TBX1	PGM3	MALT1	AICDA	PTPRC	IRF8	ACTB	RAB27A	CD3E	TNFRSF13C	CD40LG	SLC26A9	XIAP	CTC1	TRAF3	USP8	ARVCF	IKBKG	STAT1	WAS	UNC119	CREBBP	TNFSF12	UFD1	DCTN4	CRKL	IRF2BP2	TNFRSF4	MS4A1	CARD11	FRAS1	TERT	ZNF699	CHD1	CORO1A	AP3D1	TFRC	BCL11B	SDHD	LRRC8A	IGHM	HIRA	NFKB1	CFTR	CDH23	UNC93B1	NPM1	SDHC	RMRP	TNFRSF1B	IL12B	MIF	TTC7A	EDNRA	MYD88	TGFB1	KNSTRN	CD3D	IKZF1	PRPS1	FOXN1	LCP2	CR2	SLC9A3	TTC37	SHANK3	MGAT2	HYOU1	NFKB2	SBDS	MAPK1	ADA	ACD	DNAJC21	GCLC	SEC24C	RNF168	AKT1	CDCA7	LMNB2	IGLL1	NSD2	NHP2	TLR3	STIM1	MAN2B1	PARN	CD247	LRBA	CD79B	USF3	EPG5	CYBA	SEC23B	CARD9	CPLX1	FGFRL1	CEACAM6	IL12RB1	CLCA4	NHEJ1	SLC46A1	CD3G	POLE	CCDC47	USB1	IL2RG	IFNGR1	HFE	DNMT3B	IRAK4	LIG4	ACP5	MAGT1	HMOX1	DOCK2	CTLA4	RBCK1	CD40	CYBB	MTHFD1	TYK2	BUB1B	SIK3	ISG15	BCL10	UNG	IL2RB	CD28	SRP54	CHD7	STX1A	RAC2	IL2RA	HELLS	ATM	ORAI1	MEIS2	ATRX	NCF2	CUBN	WIPF1	IRF7	KLLN	CD81	TERC	CUL4B	NCF1	MBTPS2	MCM10	SLC6A14	SH2D1A	JMJD1C	CEACAM3	BCR	CTPS1	IFNGR2	NOP10	AGL	MMUT	EP300	IL21R	LETM1	PTEN	LAT	STK4	TINF2	FCGR3A	ANTXR2	BTK	PIK3CA	KCNN4	WRAP53	SLC11A1	SP110	PRKCD	SDHB	RREB1	PRKDC	GSTM3	IVNS1ABP	EXTL3	GP1BB	MYC	GATA2	TBK1	ADA2	SERPINA1	AMN
HP_RECURRENT_ABSCESS_FORMATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_ABSCESS_FORMATION	PSEN1	AP3B1	CD247	BTK	PSENEN	GJB2	CD3E	TTC7A	GJB6	UBE2A	CTSC	CD3D	FCN3	CARMIL2	LCP2	SP110	SYK
HP_RECURRENT_ASPERGILLUS_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_ASPERGILLUS_INFECTIONS	CYBA	NCF2	NCF1	CYBB	STAT1
HP_SYSTEMIC_LUPUS_ERYTHEMATOSUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYSTEMIC_LUPUS_ERYTHEMATOSUS	IGKC	C4A	FASLG	CTLA4	FCGR2A	FAS	TPP2	SEMA6B	SPP1	PTPN22	MASP2	SMPD1	PRKCD	SERPING1	CASP10	C1QA	DNASE1	IGHG2	C1S	FCGR2B	PEPD	IRAK1	RASGRP1	C1QB	PNP	ACP5	DDX41	C8A	STAT4	C1QC	CFTR	C3	SOCS1	TREX1	C2	DNASE1L3
HP_RECURRENT_STAPHYLOCOCCUS_AUREUS_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_STAPHYLOCOCCUS_AUREUS_INFECTIONS	CYBA	NCF2	CIITA	IL17RA	STAT3	NTRK1	RFX5	RFXAP	RFXANK	NCF1	PGM3	FCN3	CYBB
HP_FOLLICULAR_HYPERPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOLLICULAR_HYPERPLASIA	FASLG	STING1	CASP10	NRAS	ICOS	CD19	KRAS	TNFRSF13C	PRKCD	TET2	TNFRSF13B	SYK	CR2	FAS
HP_CHRONIC_NONINFECTIOUS_LYMPHADENOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_NONINFECTIOUS_LYMPHADENOPATHY	FOXE1	FASLG	SDHD	FAS	RASGRP1	CASP10	ATRX	MINPP1	HABP2	ABCA1	PRKCD	DAXX
HP_DECREASED_LYMPHOCYTE_APOPTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_LYMPHOCYTE_APOPTOSIS	KRAS	FASLG	CASP10	NRAS	CASP8	FAS
HP_ABNORMALITY_OF_THE_LYMPH_NODES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_LYMPH_NODES	IFNGR1	FASLG	RAG1	IL12A-AS1	CTLA4	IL7R	IL12A	STING1	ICOS	IRF4	RAG2	XRCC4	NLRP3	PIK3CD	STAT3	CD19	JAK3	TET2	PRKCD	HLA-B	ASAH1	TERT	BTNL2	PNP	TNFRSF13B	DCLRE1C	RAC2	ABCA1	PSMB8	ELANE	PSTPIP1	ATM	AICDA	PTPRC	PTPN22	ERAP1	STAT5B	SRSF2	ATRX	RAB27A	TSC1	SPP1	FOXP1	PSMG2	CYBB	TRAC	TNFRSF13C	ARPC1B	CD28	CD40LG	BRCA1	XIAP	CASP10	NCF2	SLC29A3	NABP1	SMPD1	DIS3L2	TNFSF12	IRAK1	NRAS	DEF6	RIPK1	PRF1	STAT4	MPL	UBAC2	CASP8	PALB2	CD27	MVK	TRIM28	EWSR1	MEFV	PRKAR1A	NFKB1	TPP2	WT1	SMAD4	STX11	TNFRSF1B	CLCN7	CD247	MYD88	LYST	TP53	PSMB4	APOE	BIRC3	CR2	CD70	IL6	MIF	TSC2	SDHD	PALLD	TNFSF11	P4HA2	IRF8	CCR1	EIF2AK4	ADA	DLEC1	STIM1	NCF4	GATA2	GINS1	ZBTB16	LRBA	SP110	CCND1	CYBA	BCL6	LACC1	RUNX1	WWOX	CARD9	BCOR	MYC	NCF1	ITK	IL12RB1	LCAT	BCL2	REST	BAP1	H19	FOXP3	FAS	NFKB2	IL2RG	RARA	STXBP2	TLR4	RNF6	DNASE1L3	RABL3	FAT4	RASGRP1	LIG4	ACP5	IL10	MAGT1	KRAS	HABP2	RBCK1	STAT2	CD40	ADAMTS3	TNFRSF1A	PTPN2	PML	ISG15	FERMT3	ASXL1	PSMB9	GPC3	UNG	POMP	OTULIN	MS4A1	CALR	IL2RB	CDKN2A	MINPP1	CHD7	POU6F2	NCKAP1L	IL2RA	HMOX1	RNF168	SH3BP2	CD81	TRIP13	SH2D1A	RNU4ATAC	SYK	CYBC1	SNX10	BRCA2	HLA-DRB1	NUMA1	CBL	NOD2	NLRP12	TCIRG1	C4A	FOXE1	CCBE1	LAT	FCHO1	JAK2	ANKRD55	TBL1XR1	SOCS1	KLRC4	IRF2BP2	CXCR4	ZNFX1	ZAP70	UNC13D	NPM1	FIP1L1	WDR1	HLA-DPB1	YARS1	TGFBR2	DAXX	IL23R	MCM4	ADA2	BCL10	RMRP	BTK	KIT	MALT1
HP_HYPOPLASTIC_FRONTAL_SINUSES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_FRONTAL_SINUSES	FLNA	TRIM37	SFRP4	RUNX2	COL11A1	AGA	ALX3
HP_RECURRENT_KLEBSIELLA_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_KLEBSIELLA_INFECTIONS	CYBA	IL12RB1	NCF2	NCF1	MBL2	CYBB
HP_RECURRENT_ENTEROVIRAL_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_ENTEROVIRAL_INFECTIONS	IGHM	RAG2	BTK	SP110	RAG1
HP_BILATERAL_CLEFT_LIP_AND_PALATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_CLEFT_LIP_AND_PALATE	CHUK	NECTIN1	MED12	CDH1	PTCH1	GLI2	SPOP	YAP1	CTNND1
HP_ORAL_LEUKOPLAKIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORAL_LEUKOPLAKIA	GJB2	TERC	DKC1	NOP10	RTEL1	KRT6A	PARN	MEFV	TINF2	WRAP53	NPM1	TERT	ACD	KRT16	CTC1	FERMT1	KRT4	USB1	KRT17	NHP2	KRT6B
HP_RICKETS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RICKETS	AKR1D1	STAT6	ENPP1	HSD3B7	HLA-DQA1	DMP1	SLC34A3	CLCN5	SLC34A1	ALPL	FAH	CYP27B1	GATM	EHHADH	HRAS	SLC4A1	ABCC6	SLC2A2	ATP7A	ADAMTS2	FARSB	CYP2R1	TJP2	HNF4A	FGF23	CTNS	HLA-DQB1	PHEX	NDUFAF6	KRAS	NRAS	ATP8B1	NAB2	ADAMTSL2	BAAT	VDR	ATP6V0A4	RNU4ATAC	OCRL
HP_OSTEOMALACIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOMALACIA	ANTXR2	PHEX	SLC2A2	ENPP1	CLCN5	ALPL	GATM	GNAS	EHHADH	ATP7B	SLC34A1	NDUFAF6	DMP1	CYP27B1	ABCC6	SLC4A1	AP2S1	VDR	ADAMTSL2	ATP7A	ADAMTS2	OCRL	CYP2R1	FGF23	SLC34A3	RNU4ATAC	SYK
HP_KYPHOSCOLIOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KYPHOSCOLIOSIS	COL2A1	SUFU	TGFB3	TPM2	MECP2	MYO9A	AGRN	MLXIPL	CLIC2	SOX9	PLOD1	TTI2	MGAT2	BRAF	PMP22	HRAS	LMNA	MRPS34	EBP	FBN2	RYR1	JAG1	TOR1A	GNPTAB	MPZ	RPS6KA3	MMP2	PEX7	SLC25A1	POP1	SLC16A2	KRAS	NRAS	RSPRY1	EXOC6B	HSPG2	TPM3	GORAB	FKBP14	SNAP25	COL1A2	CDH11	ATG7	NEMF	KY	GDAP1	PTCH2	SLC26A2	SBF2	RAB3GAP1	EGR2	ARID2	JPH1	NONO	ITGA7	SYT2	PTPN11	FUT8	PPP1R15B	AIMP2	CHAT	SLC10A7	COG1	ATP6V1E1	NUP107	B3GALT6	MAPT	SMS	TONSL	ERCC6	TUBB3	DSE	LHX3	NDRG1	SLC39A13	NSDHL	NEPRO	HERC1	SETBP1	FARS2	LAMA2	HMGB3	HGSNAT	CCN6	ATRX	TMEM165	TELO2	MYL2	RAB23	NAA10	MAP3K20	COL12A1	ALDH18A1	ACTA1	BCOR	PPP1R12A	TUBB4A	FLNA	IKBKG	MYH3	RTL1	SPG11	CRPPA	MVK	PRX	EXTL3	MESP2	H1-4	VAMP1	ACTB	RECQL4	KCNA1	FKTN	ACP5	PNKP	ATP6V0A2	FKBP10	ZMPSTE24	SLC52A2	BMP1	MEGF8	CHST3	ELN	SLC5A7	DLL3	RAB18	SRCAP	GZF1	STAC3	MEG3	WDR45B	SON	CLP1	SLC18A3	ERCC2	CHST14	NOTCH2	COL13A1	RBM28	PMM2	DNA2	CTDP1	SNX14	HTRA1	SELENON	DNMT3A	TRAPPC2	NF1	POMT1	LRP5	CRLF1	ATAD1	PTCH1	SLC1A2	MAP2K1	FKRP	HACD1	TRMT10A	CBS	KIF22	DSTYK	B4GALT7	POLR3A	MTTP	PAPSS2	MESD	SURF1	DLK1	TCTN3	ERCC1	TRPV4	AIMP1	UBA1	NDUFS3	PIEZO2	SH3PXD2B	AKT1	DVL1	NFIX	AEBP1	SPART	FBN1
HP_SPARSE_BONE_TRABECULAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPARSE_BONE_TRABECULAE	CYP2R1	CYP27B1	CLCN5	SLC34A3	VDR
HP_THIN_BONY_CORTEX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIN_BONY_CORTEX	CYP27B1	TENT5A	PRKG2	CYP2R1	CLCN5	SLC34A3	SMS	VDR	PTH1R	FARSB	AKT1	FBN1	ADAMTS10	TNFRSF11A
HP_OSTEOMYELITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOMYELITIS	CYBA	SPTLC1	IFNGR1	SPTLC2	HLA-B	ATL3	EFL1	STAT3	PIK3R1	PLEKHM1	MPV17	LRRC8A	REL	IGHM	CLCN7	CLTCL1	IL12RB1	LPIN2	TCIRG1	CD79A	FLVCR1	HPGD	SPTBN1	DNMT1	BLNK	TCF3	CCT5	CYBB	IL1RN	PGM3	NTRK1	SCNN1B	RETREG1	BTK	SCNN1A	ATL1	HBB	SRP54	SCNN1G	SBDS	RAB7A	ANO5	DNAJC21	NCF2	SLCO2A1	IGLL1	TNFSF11	MTAP	ITGB2	EN1	NCF1	NGF	ATP7A	FOXP3	CD79B	C2orf69	SYK
HP_PATHOLOGIC_FRACTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATHOLOGIC_FRACTURE	SPTLC1	SPTLC2	SCARB2	GNAS	RUNX1	AGXT	EFEMP2	SC5D	CBL	ATP7B	PLOD3	CCND1	LRP5	ALPL	SMPD1	GK	TCIRG1	B2M	B3GALT6	GBA	BANF1	TYROBP	CHEK2	ATL3	CTC1	RB1	SLC34A3	GNPTAB	TREM2	RECQL4	IER3IP1	LIFR	FBLN5	AGA	ATL1	HNRNPA2B1	SRSF2	PTH1R	TP53	UROS	SLC4A1	NOTCH2	VCP	SLC7A7	TET2	MTAP	ASXL1	LTBP1	TNFRSF11A	HNRNPA1	SLC34A1	OCRL
HP_RECURRENT_FRACTURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_FRACTURES	MYH3	WNT1	DKC1	LIFR	PLEKHM1	MOGS	MBTPS2	B3GALT6	DCC	CYP27B1	FKBP10	GNAS	HRAS	TNFRSF11B	USB1	TENT5A	VDR	FGF17	TACR3	P3H1	SQSTM1	TCIRG1	HESX1	HABP2	IDH1	CLCN7	LRP5	UNC45A	RUNX2	PROKR2	COL1A1	B3GAT3	CASR	COL1A2	KRAS	FGFR1	P4HB	MINPP1	NDNF	NRAS	FEZF1	SGMS2	TBCD	CTC1	ANO5	GORAB	CYP2R1	CCDC141	CBS	CLCN5	KDELR2	NOTCH2	TERC	SEC24D	SLC29A3	LBR	VCP	TMEM38B	CRTAP	ATP7A	CHST3	STAT3	TNFRSF11A	SNX10	CA2	PPIB	SLC34A3	B4GALT7	CLTCL1	NOP10	SOX9	ALPL	NPM1	SEMA3A	TRPV6	TAPT1	FOXE1	HS6ST1	CHD7	SMS	OCRL	DKK1	RTEL1	SLC7A7	ANTXR2	CTNND2	TNFSF11	IL17RD	DUSP6	FLRT3	PROK2	LEMD3	PTEN	IFITM5	TINF2	PLOD2	WRAP53	ELP1	ANOS1	SEMA5A	IDH2	TERT	SPRY4	WNT3A	FGF8	YY1AP1	SOX10	TRIP11	GLE1	PYCR1	NHP2	MTAP	PARN	FZD4	ZNF687	PRDM5	WDR11
HP_OSTEOARTHRITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOARTHRITIS	CANT1	SCARB2	COL5A1	TGFB3	COL2A1	UFSP2	COMP	COL11A2	DDRGK1	HPGD	AIP	GBA	COL9A1	SLC40A1	TRPV4	IL2RB	CLCN7	MMP13	PTPN2	COL1A1	PTPN22	HLA-B	MEFV	ZMPSTE24	SLC26A2	COL3A1	HGD	ANKH	FGFR3	F9	LMNA	COL5A2	SMAD3	GHR	GPR101	COL9A3	COL9A2	ACAN	COL11A1	TRAPPC2	MIR140	FRZB	AEBP1	MATN3	CD247	GNAS	STAT4	TRPS1	CCN6	ANKRD55	IL2RA	KIF22	PHEX	ASPN	ATP7B	TNFRSF11B	GDF5	ZNF687	F8	FBN1
HP_GENERALIZED_JOINT_LAXITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_JOINT_LAXITY	GNRHR	KISS1	COL1A1	PLOD1	PROK2	TAC3	NSMF	MSTO1	TACR3	KISS1R	LONP1	MED12	TONSL	COMP	AP4E1	FGF17	AP4M1	ATP6V0A2	AP4B1	ATP6V1A	PUF60	MCTP2	PROKR2	CHD7	C1R	FGF8	ATP6V1E1	CHST14	WDR11	AP4S1	COL2A1	HS6ST1	FGFR1	DSE	GNRH1	SPRY4	COL5A2	KIF22	FGFR3	DUSP6	IPO8	SERPINH1	SATB2	COL5A1
HP_MULTIPLE_EXOSTOSES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_EXOSTOSES	SHOX	EXT1	ALX4	TRPS1	MSX2	PTPN11
HP_ABNORMAL_CARTILAGE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CARTILAGE_MORPHOLOGY	FLNB	HLA-B	KRAS	MGP	TRAPPC2	FGFR1	SLC26A2	PTH1R	POLR1D	ABCC6	SIX3	GNAI3	IDH1	FGFR2	POLR1C	F8	PLCB4	ZNF462	STEEP1	PUF60	COL2A1	ZBTB20	EXT1	TWIST1	EXT2	PEX5	FGFR3	IDH2	DDR2	PTPN11	HGD	HS2ST1	TCTN3	ANKH	POLR1B	EDN1	TNFRSF11B	PTCH1	PEX2	UBA1	LBR	TGIF1	ENPP1	TCOF1
HP_TRACHEAL_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRACHEAL_STENOSIS	SMAD4	KCNJ10	FOXI1	MAP3K7	DHCR7	MGP	FLNB	SLC26A4	SLC26A2	HYLS1	DDRGK1	FREM2	IDUA	RSPO2	ZEB2	EBP	AFF4	GRIP1	ARSL	HOXD13	EXTL3	RMRP	WNT3	KIF7	LTBP3	FRAS1	ADAMTSL2	PCNT
HP_ABNORMAL_TRACHEAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TRACHEAL_MORPHOLOGY	FANCM	ARNT2	SMAD4	MLXIPL	DKC1	DHCR7	DCHS1	B3GALT6	FGFR2	FLNB	SOX9	NCF1	SOX2	FAT4	CYBA	SLC26A2	RAD51	HYLS1	DDRGK1	HK1	KANSL1	COL2A1	SPECC1L	RSPO2	TRRAP	ELN	USB1	TMEM270	GTF2I	FANCC	BRIP1	AFF4	RAB3GAP2	ARSL	EBP	RFC2	FOXF1	FGF20	LIMK1	EIF4H	HDAC4	AHDC1	FRAS1	GREB1L	POLR1C	AMER1	FANCF	ERCC4	SLX4	PRRX1	FANCD2	FKBP6	STX1A	FBN2	CYBB	FANCB	ZIC3	BAZ1B	GLMN	CTC1	DDR2	MYCN	PAX3	NCF2	SEMA3E	NOTCH3	CHD7	SCUBE3	POLR1B	HOXD13	BUD23	TERC	HESX1	LBR	FANCL	RMRP	RAD51C	KIF7	FANCE	DNAJC30	LTBP3	GRIP1	ERF	ZNF699	TCOF1	RET	PCNT	MID1	EHMT1	GTF2IRD2	RALGAPA1	MGP	USP9X	PDGFRB	GMNN	SLC26A4	PALB2	NOP10	VPS37D	FREM2	UBE2T	NPM1	RPL5	POLR1D	MAD2L2	ZEB2	FANCA	BCL7B	KMT2C	FGFR1	WNT9B	EMC1	FANCG	RAC1	TONSL	HRAS	KIF22	BMPER	ITGA8	HAAO	SOX3	RTEL1	WDR26	OTX2	KCNJ10	FOXI1	MAP3K7	RFWD3	TINF2	WRAP53	IDUA	TERT	PROKR2	ORC6	BRCA2	XRCC2	WBP11	METTL27	IDS	TBL2	CLIP2	TRIM2	WNT7A	ORC4	EXTL3	GTF2IRD1	NHP2	CYBC1	SNRPB	WNT3	PARN	NCF4	LTBP4	BRCA1	FANCI	SLC12A2	ADAMTSL2
HP_TRACHEOMALACIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRACHEOMALACIA	EHMT1	RALGAPA1	DCHS1	USP9X	B3GALT6	FGFR2	GMNN	FLNB	SOX9	FAT4	HK1	KANSL1	RPL5	COL2A1	TRRAP	KMT2C	RAB3GAP2	EMC1	RAC1	TONSL	HRAS	KIF22	HDAC4	AHDC1	BMPER	HAAO	AMER1	WDR26	PRRX1	PAX3	ORC6	SCUBE3	IDS	TRIM2	ORC4	AFF4	SNRPB	LTBP4	SLC26A2	ERF	ZNF699	MID1
HP_BRONCHOMALACIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRONCHOMALACIA	MYH11	EHMT1	SCUBE3	IDS	RAC1	KRT14	ORC4	GMNN	FLNB	SOX9	HRAS	KRT5	MYRF	FGFR1	LTBP4	POR	FGFR2	SLC26A2	ERF	ZNF699	ORC6
HP_UPPER_AIRWAY_OBSTRUCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_AIRWAY_OBSTRUCTION	ZSWIM6	IDS	SOX9	POR	SH3BP2	BTNL2	HLA-DRB1	XPNPEP2	ZMPSTE24	LMNA	KCNJ6	DDRGK1	AHDC1	FGFR2	COL11A1	FGFR3	GNE	F12
HP_RECURRENT_LOWER_RESPIRATORY_TRACT_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_LOWER_RESPIRATORY_TRACT_INFECTIONS	CYBA	TGFB1	CIITA	SCNN1G	ALMS1	COL5A1	PLOD1	EFEMP2	WAS	PYROXD1	ICOS	FCGR2A	PURA	KCNJ6	COL13A1	POLA1	RAG2	JAK3	COL6A1	RFXANK	DRC1	CCDC39	CFTR	RFXAP	ODAD2	CTCF	LMNB1	COL6A2	B3GALT6	GAS8	PNP	RFX5	CD19	RASGRP1	CTLA4	SCNN1A	SMARCD2	GNPTAB	COL11A2	DZIP1L	CYBB	MTHFD1	CD79B	IGKC	PGM3	TTC26	ALG12	AICDA	FBLN5	USB1	ALB	CARD10	LRRC56	UNG	WDR19	TNFRSF13C	NFKB1	CD3D	CD40LG	EGFR	NFKB2	TBCD	DDR2	PIK3CD	COLQ	NCF2	RAC2	IGHG2	AP3B1	CD247	UNC119	KPTN	USP9X	RNF168	VPS33A	LAMA2	BLNK	IDH1	LTBP1	NCF1	FCN3	FOXJ1	GLI3	RNU4ATAC	P4HTM	CD27	SIAH1	CYBC1	IGLL1	IGBP1	LAMB2	CD3E	STAT3	TPP2	MASP2	AASS	DCLRE1C	FMO3	NBN	PRKCD	SREBF1	IL2RG	SFTPC	IL21R	LAT	FCHO1	STX3	ODAD1	RAC1	IL7R	SMARCA2	STK36	COL6A3	SLC35C1	PKP1	TNFRSF13B	CR2	CFAP410	IGHM	NKX2-1	CXCR4	CCDC40	SCNN1B	SETBP1	BTK	TK2	ZNFX1	MED25	ZAP70	MGAT2	SATB1	TONSL	MYSM1	WDR1	ADA	HYOU1	ORC6	DNAH11	PRKDC	PEPD	LEP	NDUFC2	EXTL3	TRIM37	LRBA	CARMIL2	PKHD1	RAG1	TNFRSF11A
HP_TRACHEOBRONCHOMALACIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRACHEOBRONCHOMALACIA	SOX9	EHMT1	SCUBE3	IDS	SLC26A2	RAC1	GMNN
HP_RECURRENT_UPPER_RESPIRATORY_TRACT_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_UPPER_RESPIRATORY_TRACT_INFECTIONS	CIITA	PTPN22	COL5A1	IDS	ADNP	WAS	ICOS	GNS	ARID2	PLG	GALNS	DNAAF4	RAG2	CD19	JAK3	LEPR	RFXANK	RFXAP	HLA-B	DNAAF5	NFKB2	ASAH1	STXBP2	ODAD2	GAS8	ACP5	MAGT1	PNP	RFX5	TNFRSF13B	DPF2	DCLRE1C	TAP1	CTLA4	COL5A2	GNPTAB	PSMB8	OFD1	CD79B	TNFRSF1A	IGKC	MGP	COG4	KDM5C	CREBBP	ALG12	AICDA	DNAI2	USB1	SCNN1A	UNG	MS4A1	CR2	HYDIN	SMARCD1	TNFRSF13C	NFKB1	CXCR4	EGFR	SCNN1G	SMARCA4	FOXP1	XIAP	PIK3CD	DNAI1	RAC2	IGHG2	PRPS1	TAPBP	UNC119	TNFSF12	USP9X	NEK10	RNF168	IL17RA	CD81	FOXN1	IRF2BP2	ATM	HPS6	FOXJ1	GLI3	SH2D1A	DNAAF1	RSPH4A	SH3KBP1	IL2RG	HLA-DRB1	KRT5	SOX4	MDM4	NAGLU	DOCK8	CFI	SMARCB1	DNAAF2	BLM	SMARCC2	EP300	NBN	PRKCD	LEP	DNAAF11	IL21R	FCHO1	STX3	STAT3	NME8	ODAD1	RSPH1	ARID1A	IL7R	SMARCA2	STK36	SPAG1	SGSH	ALMS1	DNAAF6	TBC1D24	GUSB	IL6R	SLC29A3	DNAH5	IGHM	FCGR3A	SCNN1B	ARSB	SOX11	P4HA2	ZAP70	HGSNAT	MGAT2	STAT1	SMARCE1	MYSM1	ARID1B	ADA	HYOU1	GLB1	GAS2L2	ZMYND10	KATNIP	TAP2	CFAP298	IVNS1ABP	IKBKB	ADA2	RPGR	CCDC65	CD79A	DYM	LRBA	MCIDAS	CD4	CARMIL2	DNAJB13	NCF4	RAG1
HP_TACHYPNEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TACHYPNEA	TMEM237	SFTPB	STING1	ABCD4	PLXND1	TMEM216	INPP5E	KIAA0586	ZNF423	MT-CYB	FBP1	ARSL	COPA	FARSB	OFD1	TMEM67	FAM149B1	ABCA3	ACAT1	CC2D2A	CEP290	KATNIP	CBY1	KIAA0753	AHI1	PAM16	CEP104	PIBF1	CPLANE1	PCCB	IGHMBP2	KIF7	CSF2RA	TCTN1	RYR1	ARMC9	CDKL5	NHLRC2	CASR	ACADVL	ACTA2	NEK1	LRPPRC	TCTN3	PDE6D	HYLS1	HLCS	RHAG	PCCA	RHD	RHCE	NKX2-6	SFTPC	NTNG1	SUFU	OXCT1	COA6	CA5A	MKS1	ARL3	CACNA1S	CSPP1	ARL13B	TMEM231	SLC25A15	TMEM138	TOPORS	B9D1	SLC34A2	BTD	SMC1A	CEP120	CSF2RB	GABBR2	UQCRC2	HMGCL	TLL1	NKX2-1	RPGRIP1L	MECP2	CEP41	TCTN2
HP_NEONATAL_BREATHING_DYSREGULATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_BREATHING_DYSREGULATION	TMEM216	INPP5E	RPGRIP1L	AHI1	CEP290
HP_HYPOVENTILATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOVENTILATION	MOGS	COL12A1	TTN	TPM3	SELENON	HOXA1	MYO1H	LAMB2	PURA	NDN	LMOD3	HERC2	COL6A1	CFL2	NDUFS6	ACTA1	KLHL41	SNRPN	SCO2	COL6A2	SURF1	PWRN1	RET	COL6A3	SH3TC2	MKRN3	ASCL1	SNORD115-1	DZIP1L	MYPN	MECP2	NDUFAF2	NDUFS2	NDUFB8	TPM2	SLC5A7	DCTN1	MYH7	HNRNPK	COLQ	NPAP1	FKRP	PHOX2B	MAGEL2	NEB	NDUFAF3	SNORD116-1	SLC52A3	LBX1	LAMA2	PWAR1	DMD	P4HTM	PKHD1
HP_REDUCED_VITAL_CAPACITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_VITAL_CAPACITY	SELENON	ACTA1	CHRND	CHRNB1	TPM2	SCN4A	NEB	PYROXD1	MAP3K20	TTN	KLHL41	SBF2	MYPN	ACTN2	CRPPA	CHRNA1	AK9	MYH7	DOK7	RAPSN	MUSK	CHRNE	AGRN	VCP	TPM3	LRP4	COL13A1	MYOT	KBTBD13
HP_ABNORMAL_PATTERN_OF_RESPIRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PATTERN_OF_RESPIRATION	RERE	ACY1	UNC80	MECP2	SLC25A4	MYO9A	AGRN	MT-TE	PLXND1	BRAT1	UQCRFS1	NDN	MAT2A	DPM2	TBX20	ATP5F1A	KLHL41	SNRPN	HSPG2	CHRNE	LARP7	COL6A2	TGIF1	CEP41	TMEM67	FAM149B1	RUNX2	APOB	IDUA	NKX2-5	NDUFA10	KATNB1	MTHFR	KRT6B	LDLRAP1	PRRX1	RBM10	LIFR	CHRNA2	CTSD	TWNK	MT-TK	IGHMBP2	PRMT7	TECPR2	TWIST1	CDON	OTX2	SLC5A7	TET2	FGFR1	CCN2	COLQ	KCNT1	COL1A2	MARS1	TGFBR2	GBA	STT3B	POLG	ACADVL	LMNA	MLX	SLC6A9	CNTNAP2	ACADS	TBX4	TPM3	TSC1	EDA	CASR	CAV1	CTNNB1	CYB5R3	SLC25A3	STIL	SKI	GALC	SLC35A1	OXCT1	PET100	ATP1A3	SIX3	PIBF1	HRAS	LAMB3	TBK1	COL6A3	ALMS1	MMACHC	SFTPB	IL1RN	D2HGDH	PTCH1	GATA4	IFT81	MAGEL2	NDUFAF2	ZIC2	DCTN1	POLG2	PCSK9	TSEN54	CSPP1	SYT1	GTPBP3	DISP1	NRXN1	NPAP1	CREBBP	MYH11	CEP57	NKX2-1	HBB	OCA2	STN1	MATR3	PKHD1	MT-ND1	ERGIC1	SCNN1G	COL12A1	IDS	MYPN	ALDH7A1	KAT6B	PLAA	NDUFV2	NDUFA4	ELN	GMNN	PRKAR1A	COL4A6	NGLY1	HLA-DRB1	FARSB	NUP214	OFD1	INPP5E	KCNQ3	COL2A1	PAM16	CEP104	FGF8	PON3	SLC6A5	PCCB	PEX5	CABP4	FGFR3	TSC2	BTNL2	ATRX	GAS1	RYR1	DNAJB6	FKRP	CDKL5	COL13A1	NDUFA12	PMM2	DMD	SLC2A10	ARX	DLL1	SNX10	SELENON	PLPBP	GNE	GNAS	RHAG	DST	SMAD4	RAI1	RHD	CRLF1	FXR1	RNF13	EP300	SFTPC	FAM13A	C9orf72	SMAD2	ARL13B	COA6	KIF5A	TCF4	SCN1B	MKS1	MMAB	DNAJC21	MED27	CACNA1S	GNAI3	SLC1A3	ANXA11	SNORD115-1	MT-ND6	LRRC32	CCNF	TMEM138	TSPYL1	MYLK	TRIP13	ADGRG1	GPHN	ANG	GATA6	ECHS1	FIP1L1	COL6A1	AHI1	DISC1	SMPD1	ORC6	HEY2	NDUFB11	HNRNPK	STX16	GABBR2	GLA	ETFA	VAPB	AFF4	RPS6KA3	SLC19A3	TRIP11	COX15	UBQLN2	FGFR2	TCTN2	ORC1	TTN	MYBPC3	ORC4	PURA	ETFDH	STAT3	AIP	LYRM4	ASAH1	DOK7	VCL	HSPD1	GABRG2	SCO2	TRAK1	SERPINA1	STAG2	IRF5	LAMA3	PSAP	CC2D2A	GSN	LRP12	CEP290	FGF13	TMEM216	SCN4A	VPS51	CPLANE1	TPM2	NEFH	CHMP2B	FIG4	PCK1	SLC25A20	KRT6A	GLI2	SCN5A	WAS	PRKCSH	IRAK1	ABCA3	ALPL	MUC5B	DPAGT1	POMT1	PLA2G6	TACO1	PIGT	TRPM4	PFN1	MTM1	DKK1	SYT2	SLC12A3	KLHL7	CHAT	SFTPA2	CACNA1H	TSEN15	MUSK	CLCN7	NDUFS8	MYL3	DDC	CHRNA1	HLA-B	PARN	SRP54	GNA11	SETBP1	EPHA4	B9D1	SHH	TDGF1	EPHB4	NDUFB8	KCNQ2	TGFB3	NDUFS1	NEB	TLL1	TRPV6	CDC45	ZBTB16	PIGA	DSC2	NODAL	CFAP410	VCP	PRPH	BAP1	TAF15	KIAA0586	SIK1	ZNF423	USP7	NAGS	VAMP1	MEGF10	COA8	KCNA1	LRP4	ASCL1	KATNIP	EIF2AK4	EFTUD2	TERT	KIF7	MPC1	HTRA2	WIPF1	HNRNPA1	PON2	LBX1	FBN1	MT-TV	SOD1	ENPP1	MT-ATP6	CHRNA4	GPR101	ZFPM2	UBE3B	FUS	TCTN3	NUMA1	TFG	PCGF2	BTD	RPGRIP1L	PDE6D	HYLS1	ATP1A2	JPH2	HERC2	NOD2	MMUT	TCIRG1	BRAF	RHCE	NKX2-6	GLUL	SUFU	HEPHL1	MT-ND4	ARL3	TBL1XR1	ATN1	RELN	GAA	HLCS	GRIN2A	TMEM231	NDUFA8	SLC25A15	ZMYM2	FUZ	TK2	CSF2RA	PLCB4	UNC13A	MT-ND5	AK9	ACVRL1	ISCU	CYB5A	TARDBP	SLC2A1	RNU4ATAC	NDUFA2	TGFBR1	ACADSB	TMEM237	MYO1H	CDC6	CEP120	PRNP	FLCN	XPNPEP2	MAPT	NDUFA13	PDHA1	TNNT2	MT-ND3	ARSL	SH2B3	COPA	NPPA	SUCLG1	AHDC1	ACAT1	DZIP1L	WFS1	AMER1	HCCS	SATB2	SDCCAG8	SLC25A1	GRIK2	NDUFS2	LIAS	SPP1	ZMPSTE24	FOXRED1	FOXH1	SURF1	BCHE	NABP1	ARMC9	EDN1	CLCNKB	LAMA2	NEK1	ERF	NADK2	DSP	LRPPRC	WAC	CA2	NALCN	SMAD3	SBDS	JRK	PLEC	TERC	AIMP2	LMOD3	SLC18A3	LDLR	BUB1B	NTNG1	NDUFS4	LGI4	CA5A	TGFB2	CACNA1A	TMEM107	MKRN3	GABRB3	TOPORS	TP63	CHRNB1	MYL2	NPHP1	SMC1A	POGZ	TRMT5	RAPSN	SCNN1B	IFT52	MT-TW	NDUFAF3	HMGCL	TUBB4A	ATP6V1B2	ENG	DMPK	MRPL3	ACADM	ASXL1	BCOR	CISD2	KCNJ6	TP73	LONP1	NDUFS6	ACTA1	USP9X	PON1	FBP1	DNASE1L3	CCR6	ATXN2	NDUFA9	PRKG1	PML	PRR12	KCNJ11	KIAA0753	CNTNAP1	CASK	COQ2	TOE1	ETFB	PI4KA	NECTIN1	IL12B	LTBP3	BMPER	ACTC1	CRYAB	FOXP3	STAT4	ADCY6	ABCG8	PPARGC1A	CHCHD10	PRRT2	PCCA	MMAA	CFL2	DNA2	AIFM1	BUB1	TNNC1	NDUFS7	KIT	PTF1A	COX7B	SCN8A	NPM1	CSF2RB	HLA-DPB1	DPP9	CDT1	UQCRC2	FLNC	AGO2	SNORD116-1	SRPX2	ERBB4	NDE1	SCN2A	ADAMTS13	GNPTAB	MOGS	STING1	SOX9	ABCD4	JAK2	CFTR	RRM2B	MGME1	TREM2	TBC1D24	ABCC6	MT-CYB	PRPS1	RARS2	CTSK	C2CD3	OPTN	OPA1	VPS33A	NDUFAF5	PUF60	IRF6	TRPV4	SFTPA1	STAT5B	FAM20C	GYG1	SPOP	PEX13	GLE1	TCTN1	ARCN1	KIF20A	SNAP25	PHOX2B	NHLRC2	KAT6A	NEMF	RNF125	IDH1	NDUFV1	ACTA2	MINPP1	DDB1	CHRND	ABCG5	RTEL1	MFAP5	DNAAF3	AP3D1	EOMES	NONO	TNNI3	LAMB2	NACC1	BMPR2	TSEN34	PGM1	LAMC2	BMP2	MCCC1	SEPSECS	FOXF1	RPS26	GUSB	TNFSF11	FARS2	PNKD	DPM1	CITED2	SLC34A2	MGAT2	GABRA1	ATP11A	GNB2	DAO	BUB3	EPOR	ZIC3	PWAR1	CIZ1	ALAS2	EXOC2	MT-TL1	ADNP	HOXA1	LOX	B3GALT6	NDUFAF6	NFIX	NDUFS3	IKZF1	CCDC47	KRT17	RARA	DYNC2LI1	RANBP2	TSEN2	SDHA	SCNN1A	SCO1	SSR4	STAT2	CBY1	CPT2	CRH	GLT8D1	SIM1	PNPLA2	LIPT1	COL3A1	MTFMT	COL4A5	DEPDC5	PYGM	KRT16	MYH6	ITGA3	MT-TN	P4HTM	SH3BP2	NDUFA11	MT-ND2	DPH1	SLC39A8	BANF1	RPS28	MSX1	PWRN1	RET	DBH	SH3TC2	FOXE3	COQ7	TBR1	GLRA1	IPO8	ZC4H2	IRF2BP2	CHRNB2	UBA1	MYH7	SQSTM1	PPP1R21	TMEM218	SLC52A3	DHX16	SERPING1	TRMU
HP_OSTEOLYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOLYSIS	SCARB2	RUNX1	SCN9A	FGFR1	CDKN2B	TRPV3	WNK1	DDR2	GBA	VDR	CCR6	CTSK	IRF5	SQSTM1	IDH1	ANTXR2	RB1	ASAH1	CDKN1A	ZMPSTE24	MMP2	CTSC	HNRNPA2B1	SRSF2	MBTPS2	PIGL	LMNA	APC	CDKN1B	RETREG1	COL3A1	MAFB	TP53	UROS	CCN2	MAN2B1	NOTCH3	NOTCH2	VCP	ZBTB20	FLNA	ELMO2	HNRNPA1	ATL3	HPGD	KRAS	PDGFRB	UROD	MTX2	CBL	PTH1R	MEN1	BUB1B	KIF1A	BANF1	ATP7A	IKBKG	CHEK2	BUB1	TNFRSF11A	SLC29A3	IL1RN	NF1	TRIP13	GATA1	CAV1	CTNNB1	MMP14	ELP1	IFIH1	IDH2	SH3PXD2B	SLCO2A1	BUB3	CDKN2C	TET2	CEP57	HLA-DRB1	ASXL1	GJB2	PERP
HP_CONGENITAL_CONTRACTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_CONTRACTURE	LMOD3	FKTN	TGFB3	MYO9A	AGRN	PDX1	RIPK4	CAPN3	STAT3	FKBP10	SRPX2	INS	KLHL41	TBCD	HSPG2	ZNHIT3	PIEZO2	CNTNAP1	FBN2	YY1	PLEC	TOR1A	CHRNE	KBTBD13	ADCY6	ERCC2	SLC25A1	NEB	GCK	RAPSN	TPM2	ZMPSTE24	GLE1	CDK5	CHRNG	SLC5A7	TRIP4	LZTR1	FKRP	DNM2	KIF14	SNAP25	BICD2	PAX7	SHPK	EXOC7	SLC6A9	DPM2	TBX4	TNNI2	CHMP1A	SYT2	KIF5C	ERCC1	LMNA	ACTA1	CHAT	ZNF335	VIPAS39	TSEN54	KIDINS220	ALG3	MYH3	CLCN3	MYOD1	IBA57	PIGS	ERCC6	DSE	FAM20C	ECEL1	FIG4	SCYL2	AUTS2	GNB2	COL12A1	MUSK	POMT2	MYH8	TPM3	CHRNA1	MAGEL2	PRG4	NALCN	PIP5K1C	ACADM	ADAT3	VPS33B	ASXL1	KAT6B	GFM2	CCDC47	GBE1	VAMP1	ERBB3	ZC4H2	POMT1	SLC35A3	MYPN	ITGA6	VRK1	ERCC5	MORC2	DOK7	SMPD4	ADGRG6	KIAA1109	OTUD5	STAC3	KCNK9	SLC18A3	CHST14	MTRFR	PI4KA	COL13A1	REV3L	SLC9A6	DHCR24	TRPV4	GLI3	ABCC8	LGI4	ERGIC1	NEK9	SYNE1	GFPT1	MED13L	MYH2	UBA1	ASCC1	CFL2	ATAD1	KIF1A	NUP88	GBA	SOX10	PPP3CA	KLHL40	ADGRG1	MYBPC1	PLOD2	AIMP1	ALG14	ZBTB42	PLXND1	KCNJ11	RFT1	CEP55	CACNA1E	ITGB4	LARGE1
HP_ARTHROGRYPOSIS_MULTIPLEX_CONGENITA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTHROGRYPOSIS_MULTIPLEX_CONGENITA	LMOD3	ALG3	PIP5K1C	MYO9A	AGRN	NEB	VPS33B	KAT6B	GFM2	PDX1	RIPK4	STAT3	FKBP10	KLHL41	TPM2	INS	ACTA1	TBCD	GBE1	VAMP1	HSPG2	ZNHIT3	ERBB3	PIEZO2	CNTNAP1	PLEC	SLC35A3	CHAT	MYPN	TOR1A	ITGA6	CHRNE	KBTBD13	ERCC5	ADCY6	MYH8	ERCC2	SLC25A1	DOK7	GCK	SMPD4	MYH3	SLC5A7	RAPSN	FBN2	ZMPSTE24	GLE1	CDK5	KIAA1109	CHRNG	TRIP4	OTUD5	STAC3	LZTR1	SLC18A3	CHST14	MTRFR	KIF14	PI4KA	SNAP25	BICD2	COL13A1	SHPK	REV3L	EXOC7	SLC6A9	SLC9A6	DHCR24	TRPV4	TNNI2	ABCC8	LGI4	CHMP1A	ERGIC1	SYT2	KIF5C	TPM3	NEK9	TSEN54	SYNE1	GFPT1	ERCC1	AUTS2	LMNA	UBA1	ASCC1	CFL2	ZNF335	VIPAS39	KIDINS220	KIF1A	NUP88	CLCN3	GBA	IBA57	PIGS	ERCC6	SOX10	DSE	FAM20C	ECEL1	ZC4H2	PPP3CA	KLHL40	MUSK	SCYL2	MYBPC1	GNB2	PLOD2	AIMP1	PLXND1	KCNJ11	CHRNA1	RFT1	MAGEL2	CEP55	MYOD1	CACNA1E	ITGB4
HP_KYPHOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KYPHOSIS	WDR81	WNT1	TGFB3	NTNG2	MECP2	MYO9A	AGRN	ZMIZ1	MYO1H	CLIC2	TRMT1	NDN	MGAT2	GBA	KANSL1	COL6A1	HRAS	FGFR3	LMNA	GTF2I	KLHL41	FLVCR1	NCF1	MRPS34	HSPG2	ARSL	EBP	COL6A2	ROR2	DOCK3	MAPK8IP3	PIEZO2	FBN2	RYR1	MED27	EIF4H	JAG1	TOR1A	NELFA	TGFB1	ERCC3	TRIO	AMER1	ALG1	MPLKIP	RPS6KA3	MMP2	BIN1	SLC25A1	GTPBP2	LETM1	GNPTG	TPI1	KRAS	ACTB	CHRNG	SLC5A7	RSPRY1	LAMA2	NSDHL	GTF2E2	ACTL6B	GORAB	SYNE2	BICD2	COL1A2	GPR101	ATG7	PMP22	EMC10	MADD	KY	GDAP1	DPYSL5	PTCH2	DVL3	SLC26A2	FOXG1	SBF2	GLE1	JPH1	PTPN23	TRIP12	SDHD	MED25	ITGA7	PTPN11	FUT8	SRD5A3	SMARCAL1	WIPI2	AIMP2	CPLX1	LMOD3	SDHC	KCNMA1	SLC10A7	NTNG1	PHF8	BCL7B	COPB1	MAPT	TONSL	FKRP	SPTBN1	PUS1	USP8	FBXW11	WDFY3	COL6A3	PIK3C2A	ALMS1	LHX3	NDUFAF1	MKRN3	BPTF	NDRG1	PMM2	TCF20	NEPRO	HACE1	POLD1	HMGB3	SMC1A	TARS1	CCN6	ATRX	AUTS2	TELO2	PRDM16	SMS	NARS1	MAP3K20	RAB18	ARID1B	OBSL1	BCORL1	NXN	RLIM	METTL27	ALDH18A1	COL2A1	KCNN3	NPAP1	AKT1	NSD2	ACTA1	BCOR	PPP1R12A	CCDC32	MAGEL2	DYRK1A	FKBP14	ALG9	TUBB4A	SVIL	MYT1L	USF3	FLNA	ATP7A	IKBKG	SCARB2	RUNX2	PLAA	ERLIN2	RERE	PRX	PIK3R2	EXTL3	GALNS	ELN	RAB3GAP1	SNRPN	SLC12A2	MAN2B1	ERCC8	RFC2	FKBP10	FKTN	PRPS1	LBR	PNKP	ZMPSTE24	UBR7	KMT2E	SLC52A2	BMP1	MEGF8	RIPPLY2	TPM2	FKBP6	GRIA4	HPDL	STAC3	XYLT2	PIK3CA	SON	VPS13B	ERCC6	TRPV4	CTBP1	CDKL5	COL13A1	KLLN	BUD23	NONO	ZBTB20	DNAJC30	MBTPS2	DNA2	CTDP1	FLNB	TCF7L2	DLL3	PUS7	TLK2	CLCF1	DNMT3A	SIL1	PPIB	SYNCRIP	PTEN	SOX9	LRP5	VPS37D	COL1A1	CRLF1	CFL2	ATAD1	PTCH1	MPZ	AGO2	PTDSS1	HACD1	CBS	CCDC8	RNF2	DSTYK	SNORD115-1	DKK1	B4GALT7	SYNE1	ALDH3A2	MTTP	ANKRD11	DYM	PAPSS2	MESD	SETD5	SURF1	CNOT3	CHST3	DLK1	PRKAR1A	ERCC1	AIMP1	TAF1	TBX2	GABBR2	KAT8	NUP88	SETD1A	SNORD116-1	AEBP1	ACP5	FBN1	OCRL	GNPTAB	NOTCH3	CANT1	AIFM1	PIGG	MLXIPL	SUFU	NDUFAF4	ATP6V1B2	PLOD1	TTI2	BRAF	FA2H	KDM4B	AIP	MGME1	FIG4	ABCC6	PSMD12	MED13	CTSK	LIMK1	NPR2	HGD	VPS33A	CLCN3	TFAP2A	COL12A1	TMEM231	BGN	PEX7	PRKCZ	POP1	SLC16A2	NRAS	UBE4B	CSF1R	EXOC6B	CYP27A1	MESP2	TPM3	TNRC6B	SNAP25	KMT2C	CDH11	NOTCH2	CUL4B	NEMF	EMD	SH2B1	SEC24D	UBTF	GBA2	NSD1	EGR2	TANC2	ARID2	SYT2	DDX6	MFN2	TRAPPC2	BCAS3	KCNAB2	SETD2	PPP1R15B	CHAT	FHL1	PALS1	COG1	LFNG	ATP6V1E1	NUP107	B3GALT6	WASHC5	TBC1D20	TUBB3	DSE	ACTL6A	MMP23B	VPS37A	SLC39A13	GUSB	NF1	HERC1	SETBP1	GJB1	UPF3B	FARS2	PDPN	ZNF407	AGA	GTF2H5	HGSNAT	TMEM165	TNFRSF11B	MYL2	RAB23	NAA10	GLB1	GNAS	WNT3A	TBL2	ERCC2	NEB	SNRPB	PWAR1	AP1G1	COMP	HS2ST1	ANKRD17	MYH3	RTL1	APC2	SEC23B	SPG11	SRCAP	CRPPA	MBTPS1	DHCR7	MVK	TMEM43	FGFRL1	CUL7	SPEN	HTT	SATB1	DCC	H1-4	TMEM270	USP7	VAMP1	PHF6	RECQL4	ZC4H2	KCNA1	P3H1	RAB3GAP2	ATP6V0A2	KLC2	STX1A	HLA-B	ASXL2	GZF1	BAZ1B	MEG3	WDR45B	PUF60	RNF113A	MEIS2	CLP1	SLC18A3	CHST14	CASZ1	NEU1	MIR140	RBM28	L1CAM	IDUA	LMBRD2	P4HB	UFSP2	SNX14	HTRA1	P4HTM	SHROOM4	SELENON	GTF2IRD2	CCDC22	SVBP	YARS2	POMT1	HERC2	PDE11A	DMD	SLC1A2	MAP2K1	LUZP1	MED12L	HES7	TRMT10A	PWRN1	SIN3A	WASF1	KIF22	IPO8	POLR3A	EZH2	ROBO3	TCTN3	GABRD	SKI	PLOD2	TBX5	HUWE1	GRIA3	UBA1	SH3PXD2B	FUCA1	SDHB	PRKG2	IDS	CLIP2	NDUFS3	TRAPPC4	GTF2IRD1	SLC52A3	DVL1	NFIX	RET	JARID2	SPART
HP_COXA_VARA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COXA_VARA	CANT1	COL9A2	COL2A1	RUNX2	COL10A1	FZD2	TRAPPC2	COL1A1	ENPP1	RAD21	DDRGK1	SBDS	XYLT1	IHH	COL1A2	WNT5A	MATN3	FLNB	TCIRG1	NKX3-2	RNU4ATAC	TBX4	COL9A1	HSPG2	ATP7A	ADAMTS2	TONSL	FKBP10	CCN6	AIFM1	DNAJC21	FN1	MEGF8	ATP6V0A2	COL9A3	SRP54	MMP13	CFAP410	COMP	PEX5	SERPINF1	POP1	EXT1	PCYT1A	DVL3	SLC26A2	RSPRY1	ORC6	EXT2	DMP1	TRPV4	PCNT	ADAMTSL2	KDELR2	DVL1	CRTAP	DYM	SLC2A10	PRG4	UFSP2	RPL13
HP_ABNORMALITY_OF_THE_KNEE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_KNEE	ELN	COMT	UNC80	EXOC6B	PRKACB	RPL10	CDC6	DDRGK1	RTTN	NDN	XYLT1	SFRP4	TRPV4	DPM1	RBM8A	AP4B1	HBB	NKX3-2	GTF2I	KLHL41	BCOR	NCF1	HSPG2	MMP13	EBP	DYSF	ALG2	GABRA1	FBN2	YY1	EIF4H	TOR1A	RUNX2	TGFB1	IDUA	SATB2	SYT2	TTC26	COL2A1	LIFR	SCN9A	GNPTG	PTPN22	CANT1	MYLPF	PRMT7	EXT2	CHRNG	RSPRY1	DDR2	EVC2	DMP1	COLQ	COL1A2	ESCO2	KY	COL5A2	SLC6A9	SMAD3	SLC26A2	PSTPIP1	TBX4	COL9A3	CHST3	ERLIN2	ADGRV1	ITGA7	GMNN	NALCN	NRAS	B4GALT7	C19orf12	PUS3	RECQL4	FKBP10	FLNC	AEBP1	CENPT	LMOD3	SLC18A3	GFPT1	COL10A1	SLC10A7	ARL6IP1	ZEB2	STAT4	BCL7B	GABRG2	SKI	SCN1A	AP4S1	HPGD	SCN2A	TONSL	SPTBN1	DYNC2LI1	MKRN3	TBC1D7	NEPRO	FLNA	KIF1A	CCN6	ATRX	TELO2	AP4E1	MAP3K20	CYP3A4	ARID1B	PLOD2	GABRD	METTL27	SLCO2A1	RNU4ATAC	NPAP1	CREBBP	ACTA1	COL6A2	SVIL	RPL13	ATP7A	ZPR1	ALG14	ERGIC1	PKDCC	SLC35A3	COL5A1	PLOD1	FGD1	NEDD4L	ENPP1	LONP1	BAG3	KAT6B	PIK3R2	GALNS	VPS13B	SNRPN	TBX1	COL9A1	RFC2	IARS2	FGFR3	MEGF8	PTPN2	SIK3	PRR12	KIF22	COL1A1	GJB2	TPM2	FKBP6	COL9A2	NSD1	MCOLN1	NT5C2	CSGALNACT1	RETREG1	ERLIN1	PHEX	HCN1	MAGEL2	BUD23	ANAPC1	DPAGT1	DNAJC30	CTDP1	FLNB	EVC	LGI4	COL11A1	CDT1	VPS37D	FBN1	LOXL3	MATN3	CFL2	EP300	FDFT1	LMX1B	HACD1	HYAL1	COG5	ANKRD55	FN1	TMTC3	IL2RA	TFE3	EIF2AK3	SNORD115-1	PEPD	ARSB	DYM	PSAT1	AP4M1	NF1	IFIH1	SDHAF1	IL2RB	ORC6	FZD2	SDHD	IFT172	SRD5A3	TRPS1	GP1BB	SNORD116-1	WASF1	SERPINH1	OCRL	GNPTAB	ORC1	MLXIPL	ALDH18A1	ORC4	COMP	KRAS	PMP22	DONSON	MCTP2	ASAH1	ABCC6	AIFM1	PCDH19	CNTNAP1	C12orf57	SDHA	LIMK1	HGD	NLRP3	BICD2	EXT1	UGP2	ARVCF	ACAN	TPM3	SHOX	GLI1	CBS	NOTCH2	KAT6A	UFD1	IDH1	COL6A1	RMRP	ZNF699	BRAF	BPNT2	MYO9A	LAMB2	HIRA	IHH	CD247	ATP6V1E1	COL6A3	B3GALT6	ARFGEF2	ERCC6	TUBB3	CTC1	MYOT	GAN	RYR1	UBR7	CDC45	GUSB	PITX1	MIA3	SLC25A46	ANO5	CLCN7	GDF5	STXBP1	MYL2	GNB2	RAB23	GLB1	KIF7	COL12A1	SEC24C	PTDSS1	TBL2	NEB	IFT57	ARF1	PWAR1	UFSP2	COL7A1	PRKACA	WNT7A	MPZ	HRAS	MYH3	PI4KA	MAP2K1	TMEM270	VDR	LMBR1	MEFV	SDHB	CYP2R1	VCP	GPC6	ZSWIM6	TRIP11	B3GAT3	CPT2	ZBTB20	NDUFAF6	STX1A	RAB33B	SCARF2	PIGY	ERMARD	GMPPB	BAZ1B	CYP27B1	MAN2B1	HS2ST1	CHST11	PTEN	TCTN3	MIR140	HS6ST1	EFL1	USP9X	PRKG2	P4HTM	JMJD1C	BHLHA9	SCN1B	SELENON	GTF2IRD2	TRAPPC2	WNK1	MTX2	TNFRSF1A	HERC2	SPART	SLC39A8	FBLN5	PWRN1	MAP2K2	KRT5	IPO8	CTNS	EZH2	STX1B	JAG2	MAP3K7	ANKLE2	DPYSL5	PTH1R	GRIA3	CYP19A1	UBA1	SH3PXD2B	MAP1B	RREB1	CLIP2	TRIM2	PIEZO2	TNFSF11	GTF2IRD1	GJB6	GLI3	DHX16
HP_NEUROPATHIC_ARTHROPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEUROPATHIC_ARTHROPATHY	SPTLC1	ATL3	SPTLC2	NTRK1	ATL1	ELP1
HP_ABNORMALITY_OF_FEMUR_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FEMUR_MORPHOLOGY	CANT1	IFNGR1	COL2A1	EFL1	RINT1	DYNC2I1	TGFB3	PLEKHM1	EXOC6B	RAD21	DDRGK1	EED	SOX9	COMP	RAD51	XYLT1	MGAT2	SALL4	COL1A2	ABCC9	RBM8A	TSHB	FLNB	TCIRG1	FGFR3	NKX3-2	FANCC	HSPG2	ARSL	SMARCAL1	ANKH	MEGF8	SUCLG1	GLB1	HSPA9	COL11A2	UNC45A	RUNX2	TGFB1	FANCF	MMP13	ERCC4	PUF60	BGN	PROP1	FANCD2	PEX5	LIFR	SERPINF1	POP1	EXT1	GNPTG	FIBP	DYNC2H1	ZMPSTE24	EXT2	RSPRY1	SGMS2	TP53	CYP27A1	LRP5	SLC39A13	LMX1B	AGPS	SEMA3E	ARCN1	DMP1	ACAN	SHOX	CHD7	GORAB	RASA1	CREBBP	TRPS1	MMP9	VDR	MADD	CRKL	TREX1	FANCL	COL1A1	LMNA	CDC6	TMEM38B	TG	TBXAS1	SLC26A2	CHD4	COL9A2	ORC1	SLC12A2	FZD2	CLCN5	LHX4	B4GALT7	POLR1A	CLCN7	LHX3	SBDS	TRAPPC2	PALB2	POR	TBX15	IHH	COL10A1	RMRP	MAD2L2	SLC10A7	COG1	FANCA	NANS	COG4	B3GALT6	FANCG	TONSL	WNT7A	CHEK2	ERCC6	IYD	FN1	CTC1	PIK3C2A	COL11A1	GPC6	GJA1	POLR3A	COL9A3	SRP54	NEPRO	FUCA1	FLNA	IFT140	GJB2	ALG12	PDE4D	STXBP1	CCN6	DUOXA2	CSPP1	ARID1B	MAPK1	LEMD3	PLOD2	POU1F1	DNAJC21	RNU4ATAC	GDF5	COL9A1	RPS6KA3	FANCB	TRPV6	DVL1	FANCI	DYM	PRG4	RPL13	ATP7A	TRIP11	RTL1	FANCM	AFF3	ENPP1	UFSP2	EXTL3	PSAP	GALNS	CYP27B1	FGFR2	GNAS	TMEM251	KIAA0586	CCDC47	TENT5A	SIL1	BRIP1	MAN2B1	FKBP10	NGLY1	P3H1	AIFM1	CYP2R1	ATP6V0A2	RB1	COG8	LTBP3	BHLHA9	CHST3	SLX4	KIF22	BMPR1B	TSHR	RAB33B	SCARF2	PCYT1A	DVL3	SRCAP	OTUD5	CSGALNACT1	MEG3	RAB23	TRPV4	PHEX	HS2ST1	MIR140	INPP5K	ADAMTSL2	KDELR2	TRAF3IP1	LBR	GTF2E2	IDUA	RAD51C	FANCE	CRTAP	ATRX	SLC2A10	PCNT	TMEM67	BCR	SLC34A3	MTX2	PLOD3	DUOX2	POC1A	KCNJ8	FBN1	UBE2T	HESX1	WNT5A	MATN3	EP300	TAPT1	TBX4	TPO	PTH1R	ADAMTS2	SLC35A2	EIF2AK3	NFIX	CFAP410	EZH2	SETBP1	DLK1	RFWD3	IFIH1	LEMD2	SLC5A5	ORC6	BRCA2	XRCC2	PRKG2	GLA	NEK8	GJB6	GBA	BRCA1	RET	ACVR1	GLI3	AMMECR1	TNFRSF11A
HP_CAUDAL_APPENDAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAUDAL_APPENDAGE	FAT4	COLEC11	MASP1	COLEC10	DCHS1	TRPV4
HP_HIP_DISLOCATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIP_DISLOCATION	ELN	FKRP	PTCH1	TPM2	EXOC6B	COLEC10	MYO9A	AGRN	HDAC8	ALDH18A1	FLNB	SOX9	PLOD1	RAD51	TRIM8	EXOSC3	HK1	COL1A2	COL6A1	SHH	RBM8A	MCTP2	IL6ST	FIG4	SMOC1	SIX3	KLHL41	FANCC	SLC6A5	APC	EIF4A3	EBP	COL6A2	TGIF1	CTBP1	STAG2	MBTPS2	TOR1A	COL5A2	GNPTAB	COL12A1	FANCF	CHRM3	VAC14	ERCC4	PUF60	FANCD2	XYLT1	KMT2D	SLC25A1	FBLN5	ZMPSTE24	MYH8	ACTA1	CDON	CHRNG	ZNF469	KANSL1	FOXH1	DLL1	TBCD	FGF8	HSPG2	FGFR1	ZIC2	GLRB	FANCB	TPM3	PPP2R5D	GLI2	SNAP25	BICD2	GORAB	RNU4ATAC	COLEC11	FANCL	PTRH2	LMNA	LTBP1	ARNT2	SLC6A9	LARGE1	TDGF1	HOXA11	SMC3	CHST3	ITGA7	SYT2	FZD2	RYR1	FUT8	PALB2	POMT2	AEBP1	GAS1	LMOD3	CHAT	FHL1	TBX15	ATP6V1A	MAD2L2	FANCA	STIL	COL6A3	B3GALT6	CLCN3	SMC1A	FANCG	OCRL	WNT7A	KDM6A	EYA1	GPHN	ECEL1	MYH7	CD96	CUL7	HACE1	GJA1	NODAL	FLNA	MAP3K7	GDF5	TONSL	GSC	TELO2	MYL2	MAP3K20	OBSL1	DISP1	FBLN1	PORCN	POMT1	DHCR7	NSD2	NEB	PAFAH1B1	NSDHL	DVL1	SNRPB	AKT1	ALG9	FANCI	SLC12A2	ERGIC1	MYH3	GPC3	FANCM	SLC35A3	AFF3	EFEMP2	COL1A1	CPLX1	FGFRL1	LONP1	RAD21	GLI3	NIPBL	TMEM251	CCDC47	USP9X	SIL1	BRIP1	DHODH	VAMP1	IARS2	RECQL4	NGLY1	ATP6V0A2	GMPPB	COL2A1	B3GAT3	OFD1	UBE3B	SLX4	KIF22	ATAD1	BRD4	SLC5A7	DNAJC21	PIGL	DVL3	AARS1	ATR	SELENON	COL3A1	SMO	SLC18A3	INPP5K	ADAMTSL2	COL13A1	MKKS	RAD51C	FANCE	SLC2A10	GLRA1	TNNT3	SHROOM4	COX8A	FLI1	SIX1	CLTCL1	UBE2T	THRA	WNT5A	CFL2	KAT6B	LETM1	ATP6V1E1	HACD1	ATP7A	ADAMTS2	MASP1	GEMIN4	OSGEP	CCDC8	C12orf57	PTEN	DSTYK	TFE3	EIF2AK3	SEC31A	IPO8	GPC4	COL5A1	ZC4H2	PYCR1	SF3B4	RFWD3	DPYSL5	ERCC1	IFIH1	BRCA2	XRCC2	PIEZO2	YWHAE	BRCA1	NFIX	LRP4	PYCR2
HP_MULTIPLE_JOINT_CONTRACTURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_JOINT_CONTRACTURES	COL12A1	FKRP	TTN	PIP5K1C	SELENON	RNASEH2B	TGM1	B3GALT6	RTTN	LMNA	UBA1	SLC1A4	ADAR	DNA2	RYR1	MED12	NUP88	RFC1	FLRT1	KY	MYOT	PIGS	GMPPB	VPS11	ERCC3	POMT2	MPLKIP	GPKOW	SLC39A14	DOK7	NDE1	MYBPC1	GTF2H5	RAPSN	MUSK	TARS1	ZMPSTE24	COL6A1	FLNA	RNF113A	MYH7	GTF2E2	RBM28	POMT1	ERCC2	RNASEH2A	COL6A2	KLC2	TRIP4	SLC18A3	COL6A3	TREX1	PMM2	IDH1	RNASEH2C	LARGE1	ALG14	MYOD1	IFIH1	SAMHD1
HP_ARTHRALGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTHRALGIA	COL2A1	IL12A-AS1	MLXIPL	IL12A	STING1	COMP	IRF4	HLA-B	SFRP4	LPIN2	NLRP3	CD19	AIP	HBB	ASAH1	GTF2I	ABCC6	CTLA4	NCF1	COPA	SLC40A1	IRF5	LIMK1	TNFRSF13B	HGD	EIF4H	COL11A2	PSMB8	APOB	F8	PLCG2	IGKC	LDLRAP1	PSTPIP1	MMP2	GNPTG	PTPN22	ERAP1	SRSF2	DSE	SPP1	APC	IL10	MAFB	CCN2	MPL	ANKH	GPR101	TNXB	TNFSF12	NLRC4	IRAK1	NOTCH2	CLCNKB	FTL	MLX	COL5A2	VCP	STAT4	UBAC2	ABCG5	PIGT	CD81	HPGD	XPA	MVK	HLA-DQA1	SLC12A3	MEFV	TREM2	TRAPPC2	NFKB1	LDLR	MTX2	BCL7B	NFKBIL1	HLA-DPA1	CD247	PSMB4	IL1RN	IL6	MIF	P4HA2	CD244	CCR1	CCN6	PCSK9	CAV1	GNB2	ASPN	LEMD3	KIF7	ERCC4	METTL27	SLCO2A1	TBL2	LMNB2	TET2	COL9A1	TNFRSF11B	EPOR	CIITA	ABCG8	JAK2	UBA1	XPC	UFSP2	PKDCC	MYH3	LACC1	RUNX1	COL10A1	DDRGK1	ELN	DDB2	NFKB2	TMEM270	TLR4	RFC2	CCR6	PTH1R	TNFRSF1A	PTPN2	CHST3	COL1A1	FKBP6	ASXL1	PSMB9	STX1A	POMP	OTULIN	MS4A1	CR2	ERCC5	SLC26A2	MFN2	BAZ1B	ICOS	C1S	TYROBP	PHEX	IGHG2	BUD23	IL12B	DNAJC30	ENPP1	GTF2IRD2	HLA-DRB1	COL11A1	IFNGR1	CBL	ATP7B	VPS37D	MSMO1	NOD2	NLRP12	MATN3	SLC22A4	TNFRSF13C	C4A	RNU4ATAC	TRPS1	PRTN3	ERCC3	ANKRD55	IL2RA	HLA-DPB1	KLRC4	COL5A1	HLA-DQB1	HFE	CTNNB1	IL2RB	IL23R	PRKCD	TREX1	ERCC2	SEPTIN9	CLIP2	GLA	LMNA	FAS	ADA2	GTF2IRD1	KIT
HP_CALCIFIC_STIPPLING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALCIFIC_STIPPLING	HSD17B4	EBP	PEX5	GNPAT	PEX2
HP_ASPIRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASPIRATION	FOXG1	ADGRG1	ADNP	GPHN	ATP1A2	GNB2	ATXN8OS	SPECC1L	EP300	MATR3	SRPX2	SYCE1	DCX	CREBBP	ATP1A3	GRM7	PI4KA	LAMA2	HEXA	CACNA1A	SLC1A3	MID1	GLRA1	LRP12	SEC31A	DHX16	GM2A
HP_RECURRENT_BRONCHITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_BRONCHITIS	DNAAF1	MGP	IL2RG	ICOS	MS4A1	CR2	NFKB1	HYDIN	TNFRSF13C	NBN	EGFR	NFKB2	CD19	PRKCD	DNAI1	FCHO1	TAPBP	TAP2	TNFSF12	GAS8	IL17RA	CD81	MAGT1	RPGR	SMARCA2	TNFRSF13B	ATM	TAP1	CD79A	GNPTAB	DNAJB13	CD79B
HP_URINARY_BLADDER_SPHINCTER_DYSFUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URINARY_BLADDER_SPHINCTER_DYSFUNCTION	KIF1A	ATXN2	ABCD1	HNRNPA2B1	HSPD1	ATXN3	REEP2	WWOX	MMP1	PMP22	GJC2	PIK3R5	ATL1	WASHC5	SPG7	KIF5A	FXN	FMR1	SETX	VCP	SPG11	COL7A1	ZFYVE26	NIPA1	ATXN1	AP5Z1	SPAST	RTN2	GBE1	HNRNPA1	MPZ
HP_LYMPHADENITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LYMPHADENITIS	CYBA	CXCR4	NCF2	RAC2	CYBC1	ZAP70	MYD88	IL12RB1	MVK	NCF1	RAG2	STAT2	CYBB	RAG1
HP_ABNORMAL_T_CELL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_T_CELL_MORPHOLOGY	FASLG	LCK	WAS	MYC	ITK	CD8A	RIPK1	NHEJ1	RAG2	PIK3CD	IL7	JAK3	LEPR	PRKCD	CD3G	FAS	RAG1	RASGRP1	SMARCAL1	BTNL2	PNP	ACP5	MAGT1	RAC2	PGM3	FOXN1	PTPRC	BCL10	CASP10	OTULIN	CD3E	RFX5	RFXANK	NCKAP1L	CD3D	IL2RA	BLM	AP3B1	CD247	WIPF1	UNC119	TOM1	DEF6	CD4	ATM	RFXAP	MCM10	FOXP3	CASP8	SYK	IL2RG	NSMCE3	CIITA	CTPS1	DOCK8	DCLRE1C	NBN	LEP	ZAP70	LAT	FCHO1	KNSTRN	IL7R	LCP2	WDR1	ATP6AP2	ADA	EPG5	HLA-DPB1	DNMT3B	IVNS1ABP	EXTL3	IKBKB	HLA-DRB1	SP110
HP_ABNORMAL_B_CELL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_B_CELL_MORPHOLOGY	RAG2	FASLG	RAG1	FAS	CTPS1	REL	CARD11	DOCK8	RIPK1	ICOS	NHEJ1	NBN	PIK3CD	PRKCD	TET2	IL21	BTK	TRNT1	FCHO1	RASGRP1	GFI1	KNSTRN	MYD88	DCLRE1C	IKZF1	RAC2	ADA	LCP2	IL6R	SOCS1	IGHM	ALG12	CASP10	STAT1	MYSM1	WDR1	JAK3	CD19	NCKAP1L	HYOU1	IL2RA	NFKB2	IKZF3	BACH2	TCF3	TBX2	UNC119	IVNS1ABP	TOM1	IKBKB	IRF2BP2	MCM10	LRBA	SP110	SYK
HP_DECREASED_SPECIFIC_ANTI_POLYSACCHARIDE_ANTIBODY_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SPECIFIC_ANTI_POLYSACCHARIDE_ANTIBODY_LEVEL	FASLG	COG6	FAS	IL2RA	WAS	RASGRP1	PRKCD	MAGT1	CASP10
HP_DECREASED_CIRCULATING_TOTAL_IGM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_TOTAL_IGM	IGKC	FASLG	MOGS	CNBP	WAS	FAS	CARD11	BLM	JAK3	ICOS	CD19	TNFRSF13C	RAG2	NFKB2	IL2RG	PRKCD	BACH2	CASP10	PIK3CD	IGHG2	IKBKG	RASGRP1	IVNS1ABP	RNF168	EXTL3	TOM1	KNSTRN	IRF2BP2	CTLA4	RAC2	LRBA	ATP6AP1	LAMTOR2	ADA	CASP8	TCN2	IL6R	PIGT	PLCG2	SYK	RAG1	TNFRSF11A
HP_ELEVATED_PROPORTION_OF_CD4_NEGATIVE_CD8_NEGATIVE_ALPHA_BETA_REGULATORY_T_CELLS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_PROPORTION_OF_CD4_NEGATIVE_CD8_NEGATIVE_ALPHA_BETA_REGULATORY_T_CELLS	FASLG	FAS	RASGRP1	CASP10	PRKCD
HP_GENU_VALGUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENU_VALGUM	MLXIPL	LIFR	PRKACB	LONP1	COMP	NDN	SFRP4	GALNS	TRPV4	PMP22	ELN	MCTP2	HBB	NKX3-2	VPS13B	ENPP1	MAP2K1	ACTA1	TMEM270	GTF2I	KLHL41	SNRPN	BCOR	NCF1	VDR	COL9A1	HSPG2	RFC2	IARS2	DYM	LIMK1	TGFB1	EIF4H	RUNX2	COL2A1	IDUA	B3GAT3	MEGF8	CHST3	KIF22	FKBP6	ZBTB20	NDUFAF6	EXT1	STX1A	GNPTG	RAB33B	COL9A2	TPM2	NSD1	UGP2	SLC26A2	EXT2	RSPRY1	BAZ1B	CSGALNACT1	RAB23	EVC2	KRAS	MAN2B1	ACAN	PHEX	HS2ST1	SHOX	NOTCH2	GLI1	COL1A2	CBS	HS6ST1	MAGEL2	FLNA	BUD23	KAT6A	DNAJC30	PRKG2	ZNF699	BRAF	BPNT2	P4HTM	EVC	ORC1	GTF2IRD2	COL11A1	MTX2	NF1	PUS3	CENPT	VPS37D	LMOD3	HERC2	LOXL3	MATN3	CFL2	SLC10A7	SPART	ZEB2	BCL7B	FBN1	SKI	B3GALT6	ATP7A	OCRL	TONSL	SPTBN1	PWRN1	COG5	TUBB3	FN1	DYNC2LI1	CTC1	MAP2K2	TFE3	EIF2AK3	GAN	MKRN3	SNORD115-1	IPO8	COL9A3	GUSB	PEPD	CTNS	MMP13	NEPRO	ARSB	CLCN7	KIF7	CCN6	ATRX	GLB1	IFIH1	CYP19A1	METTL27	IFT172	TBL2	CLIP2	NPAP1	TRPS1	TNFSF11	NEB	IFT57	SNORD116-1	GTF2IRD1	PWAR1	PRKACA	SERPINH1	ZPR1	MPZ
HP_MENINGIOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MENINGIOMA	SEC23B	SDHD	NRAS	CDKN2B	PTEN	AKT1	SDHC	MEN1	EP300	WRN	NTHL1	KRIT1	LMNA	NF2	BAP1	SMARCB1	CDKN1A	PIK3CA	PDGFB	SUFU	CREBBP	ARMC5	SMARCE1	CDKN1B	NF1	CCM2	GNAS	SDHB	TRAF7	TERT	MN1	PDCD10	CDKN2C	SMO	KLLN	CHEK2	USF3
HP_RHABDOMYOSARCOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RHABDOMYOSARCOMA	BUB1B	TRIP13	DICER1	MC1R	NBN	CHEK2	NF1	KEAP1	FOXO1	SLC22A18	MDM2	BUB3	PTCH1	NRAS	HRAS	PAX7	CEP57	BUB1	MLH1	PAX3	CDKN2A	TP53
HP_SQUAMOUS_CELL_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SQUAMOUS_CELL_CARCINOMA	WNT10A	COL7A1	TERC	WRAP53	TYR	DOCK8	DKC1	ING1	POLH	CIB1	BLM	IL7	CDKN2A	TINF2	LAMC2	TNFRSF10B	SASH1	ERCC3	FERMT1	MC1R	GJB2	NTHL1	PSENEN	RECQL4	ERCC2	LAMA3	KRT5	TERT	SLC17A9	LAMB3	XPC	ERCC4	SMARCAD1	TMC8	MVD	COL14A1	SLX4	MPLKIP	FDPS	UROS	GTF2H5	STAT1	GATA1	TARS1	MMP1	LMNA	OCA2	DDB2	ERCC5	RNF113A	RSPO1	WRN	GTF2E2	KRT14	AAGAB	ANAPC1	MVK	NUTM1	TMC6	GJB6	CTSC	NLRP1	BRD4
HP_MELANOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MELANOMA	MITF	SEC23B	CDKN2A	RABL3	TYR	RNF43	RAD51C	KANSL1	TRPV3	DDB2	BRAF	CDK4	GNA11	ERCC3	SLC6A17	TP53	RAD51D	NBN	BRIP1	COL14A1	CDKN2B	POT1	RECQL4	MC1R	PTPN11	BAP1	MBTPS2	ERCC5	OCA2	CHEK2	PTEN	MMP1	BRCA1	STK11	SF3B1	WRN	COL7A1	KLLN	CYSLTR2	AAGAB	PALB2	ANAPC1	CTSC	ERCC6	HRAS	BARD1	GNAQ	RAD51	SDHD	NRAS	BRCA2	XPA	POLH	SMAD4	SDHC	ERCC2	MGMT	XPC	ERCC4	MRE11	CXCR4	PALLD	PIK3CA	RAD50	RAF1	TERT	SDHB	TERF2IP	KRAS	MDM2	ACD	AKT1	USF3	PERP
HP_MYELODYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYELODYSPLASIA	SAMD9	RFWD3	FANCM	CALR	EFL1	TERC	MPL	RPL15	GFI1	GATA1	RAD51	TINF2	HAX1	BRAF	FANCC	BRIP1	SRP72	TERT	TET2	SMARCD2	RPL18	RPS17	RPS7	FANCF	NAGS	ERCC4	SLX4	FANCD2	RECQL4	NBEAL2	ASXL1	RPS28	PTPN11	HSCB	SRP54	THPO	RPL35	RUNX1	CHEK2	ADH5	RPS19	GATA2	RPL11	ATRX	SAMD9L	RPL5	BLM	ANAPC1	LIG4	HSPA9	FANCG	FANCL	RPL26	RAD51C	FANCE	RPS27	JAK2	GNB1	RPS24	SBDS	DKC1	PALB2	UBE2T	RPS20	BUB1B	MAD2L2	ADA2	FANCA	SH2B3	RPS14	SRSF2	RPL27	DNAJC21	SF3B1	TP53	BUB1	ELANE	RPL35A	RPS10	CDKN2A	NF1	RPS26	RPL31	TRIP13	MYSM1	RPS15A	RAF1	RPS29	BRCA2	TSR2	XRCC2	MDM2	BUB3	DDX41	CEP57	FANCB	UBA1	ERBB3	BRCA1	FANCI	GINS1	TCIRG1	KIT
HP_HYPOPLASTIC_ILIAC_WING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_ILIAC_WING	EVC	HDAC6	RTL1	EZH2	COL2A1	SMAD4	ARSB	EP300	RUNX2	EED	SOX9	DLK1	TRAPPC2	RIPK4	ERCC8	IHH	MEG3	TMEM251	GATA1	ERCC6	PCNT	CTSK	CREBBP	EVC2	TBX15	DYM	FN1	CCBE1	WNT7A
HP_ABNORMAL_ILIUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ILIUM_MORPHOLOGY	RTL1	GLB1	COL2A1	SMAD4	RUNX2	B3GALT6	SLC35D1	ENPP1	EED	LONP1	SOX9	KAT6B	RIPK4	GALNS	GPC3	TMEM251	INPPL1	FGFR3	NKX3-2	FLNB	CEP120	HSPG2	CTSK	IHH	PTH1R	ACP5	TMEM67	DYM	AIFM1	TWIST2	GNPTAB	TRIP11	MMP13	TNFRSF1A	GPC4	BGN	SLC26A2	PEX5	LIFR	ZBTB20	PIGN	PAM16	POP1	FLNA	GNPTG	AMER1	COL11A2	HLA-B	PCYT1A	PLCB3	MEG3	RAB23	RPS19	EXOC6B	DDR2	DMP1	ERCC6	TRPV4	MAN2B1	PHEX	WDR19	EVC2	RMRP	RNU4ATAC	VPS33A	SEC24D	CCBE1	IDUA	IDH1	PCNT	EVC	PLEKHM1	VANGL1	GPX4	SEC23A	TRAPPC2	AEBP1	ERCC8	TBX15	NANS	LMX1B	ATP7A	FN1	EIF2AK3	COL11A1	POLR3A	FUZ	HDAC6	NEPRO	EZH2	ARSB	EP300	IFT81	CCN6	DLK1	GATA1	MATN3	CREBBP	EXTL3	RPS6KA3	WNT7A
HP_NARROW_ILIAC_WING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_ILIAC_WING	RPS6KA3	SEC23A	SEC24D	MATN3	NANS	ZBTB20	COL2A1	PEX5	EIF2AK3
HP_FLARED_ILIAC_WING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLARED_ILIAC_WING	FLNA	GPC4	GLB1	BGN	TRPV4	PHEX	B3GALT6	ARSB	EP300	GPX4	GNPTG	CREBBP	IHH	AIFM1	VPS33A	IDUA	GNPTAB	GPC3	RAB23	TRIP11	MMP13	DDR2
HP_OBSTRUCTIVE_SLEEP_APNEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OBSTRUCTIVE_SLEEP_APNEA	NONO	SYT2	CA2	UNC80	MYO9A	SH3BP2	AGRN	ASXL1	PCGF2	NALCN	SNRPN	CHAT	FXR1	DNA2	EP300	NFIX	BMP2	CCDC47	SKI	VAMP1	CTSK	TERT	NGLY1	HRAS	NDN	GNAI3	ATN1	AHDC1	PLCB4	GUSB	IDUA	SATB2	OCA2	ZMYM2	PRR12	TRPV4	SLC25A1	MAGEL2	SIM1	CREBBP	SLC5A7	POGZ	FGFR3	ARCN1	SLC18A3	IDS	SNAP25	EDN1	COL13A1	LRPPRC	DDB1	PIGT	EXOC2	GNPTAB
HP_CENTRAL_APNEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_APNEA	DLL1	GLI2	PTCH1	TDGF1	NODAL	TSEN54	CISD2	SNRPN	GAS1	INPP5E	SHH	FOXH1	STIL	ZIC2	SIX3	ARSL	SMC1A	TGIF1	STAG2	FGFR3	FGFR1	NDN	SYT1	CDON	TBR1	WFS1	CEP290	DISP1	OCA2	TMEM216	MAGEL2	FGF8	TECPR2	AHI1	PSAP	SLC2A1	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	SLC18A3	VAMP1	SLC25A1	SNAP25	SYT2	MYO9A	AGRN	CHRNE	SLC5A7	COL13A1	CHAT	PDHA1
HP_EXERTIONAL_DYSPNEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXERTIONAL_DYSPNEA	ENG	CHRND	TGFBR1	LOX	ACADM	BCOR	JAK2	MAT2A	TBX20	STAT3	ELN	RRM2B	RARA	DOK7	PRKAR1A	CHRNE	SFTPC	SH2B3	COA8	AGRN	NEB	LRP4	ABCA3	PRKG1	NKX2-5	PML	SCN4A	ACTA2	SFTPA1	TERT	STAT5B	TWNK	GYG1	ZMPSTE24	CITED2	COLQ	NABP1	CSF2RB	TGFBR2	POLG	MUC5B	PYGM	LMNA	FBN1	COL13A1	MYH6	ACTC1	MT-TN	RTEL1	MFAP5	SFTPA2	DSP	NUMA1	LAMB2	SMAD3	PLEC	TERC	SMAD4	DNA2	GATA6	CYB5R3	FAM13A	SMAD2	MUSK	MYL3	MYH11	SURF1	TBL1XR1	TGFB2	FOXE3	CHRNA1	PARN	IRF2BP2	MYLK	SLC25A4	GATA4	CHRNB1	SLC34A2	EIF2AK4	POLG2	NPM1	ATP11A	FIP1L1	TGFB3	TRMT5	TLL1	DPP9	AK9	HEY2	RAPSN	CYB5A	EPOR	ZBTB16	STN1
HP_EPISODIC_TACHYPNEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISODIC_TACHYPNEA	CPLANE1	TOPORS	TMEM237	TMEM216	TCTN3	B9D1	KIAA0753	AHI1	CEP104	PIBF1	SMC1A	PDE6D	HYLS1	ARMC9	CEP120	KIF7	INPP5E	TCTN1	NTNG1	SUFU	KIAA0586	FBP1	GABBR2	UQCRC2	CDKL5	MKS1	ARL3	ACADVL	OFD1	TMEM67	CSPP1	FAM149B1	CC2D2A	RPGRIP1L	MECP2	CEP290	ARL13B	CEP41	KATNIP	CBY1	TCTN2
HP_NOCTURNAL_HYPOVENTILATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NOCTURNAL_HYPOVENTILATION	HNRNPK	SELENON	ACTA1	KLHL41	TTN	COL6A2	FKRP	PHOX2B	NEB	TPM2	COL12A1	SLC52A3	COL6A3	LMOD3	COL6A1	CFL2	MYH7
HP_RESPIRATORY_FAILURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESPIRATORY_FAILURE	HYDIN	ORC1	SMAD4	LMOD3	FKRP	ZMYND10	NAXE	DRC1	PRPH	SFTPB	ORC4	CDC6	CCDC40	TREM2	DOK7	BOLA3	CHRNE	DNAAF2	SCO2	SURF1	TTC12	AGRN	HADHA	LAMA3	OPTN	OSTM1	PSAP	ABCA3	DZIP1L	NUP188	ALG1	HCCS	CFAP298	TRPV4	SCN4A	NEB	HADHB	ODAD4	CTSD	LRRC56	FAM20C	SUCLG1	GAS8	IGHMBP2	CHMP2B	GLE1	FIG4	RSPH1	DNAAF3	TBCD	TPM3	OFD1	BICD2	LAMA2	SMN1	COL6A1	SLC6A9	COL13A1	LARGE1	SPEF2	CHRND	RYR1	DNAH1	TSFM	PFN1	TMEM70	GAA	ITGA7	SARS2	ATXN1	BCHE	TSC1	SLC25A26	DNAI1	RSPH3	MCIDAS	ACTA1	TSEN54	LAMC2	COL6A3	GALC	MUSK	CFAP300	LYRM7	IBA57	HRAS	RSPH9	DSP	NBN	LAMB3	TBK1	CHRNA1	MYOT	DNAAF1	NKX2-1	EPHA4	CHRNB1	IFT81	NDUFAF2	ODAD3	DCTN1	SLC34A2	NDUFB8	MYL2	PTCD3	BSCL2	DAO	MAP3K20	GTPBP3	DNAJB13	RAPSN	POMT1	NPC2	NDUFB11	NDUFAF3	COL6A2	ASAH1	CDC45	GATA2	DNAAF6	MATR3	PKHD1	CFAP410	RTL1	DNAH5	VCP	STK36	KLHL41	TAF15	DNAAF11	GMNN	PON1	SOD1	SPAG1	ODAD1	MEGF10	DNAL1	MICOS13	CCDC39	CCNO	FARSB	ATXN2	LRP4	GMPPB	GLS	SLC25A46	TTN	FOXJ1	CPT2	TPM2	GLT8D1	DNAAF4	INVS	CLPB	FLNA	PON3	PEX6	COL12A1	NDUFS4	DNAAF5	RPGR	RSPH4A	AHCY	MEG3	DNAH9	TSC2	CCDC65	KLHL40	SON	HTRA2	BLM	HNRNPA1	RNF168	EXOSC8	NEK1	PON2	LBX1	NFS1	LRPPRC	PLP1	DMD	MTM1	DNAI2	LTBP3	CRYAB	SLC2A10	SELENON	UBE3B	PPARGC1A	FUS	CHCHD10	TFG	ERBB3	ASCC1	ATAD1	SFTPC	GAS2L2	DLK1	C9orf72	CCDC103	NUTM2B-AS1	HACD1	NEFH	JUP	ODAD2	ANXA11	CCNF	POMT2	MTTP	NEK10	COX7B	NFU1	TK2	NDUFS2	ANG	TUFM	UNC13A	AK9	SQSTM1	DAG1	CDT1	DNAH11	MGME1	VAPB	MCM4	NME8	ERBB4	TARDBP	UBQLN2	ACVR1	RNU4ATAC	CFAP221	ORC6
HP_ANISOSPONDYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANISOSPONDYLY	HSPG2	FLNA	COL2A1	MIR140	TRPV4
HP_SUDDEN_EPISODIC_APNEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUDDEN_EPISODIC_APNEA	SLC18A3	SLC39A8	VAMP1	FARS2	GABBR2	SLC25A1	SNAP25	SYT2	MYO9A	AGRN	CHRNE	CDKL5	SLC5A7	COL13A1	SMC1A	CHAT	SLC25A20	MECP2	NTNG1
HP_HYPERVENTILATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERVENTILATION	TCF4	MT-TL1	CRH	CHRNB2	CPLANE1	CHRNA2	CNTNAP2	SLC2A1	BTD	FBP1	GABRA1	CASK	JRK	UQCRFS1	CDKL5	HLCS	MT-ND2	MT-TK	CABP4	MT-ND5	MT-ND3	CACNA1H	NRXN1	KCNT1	ARL13B	GABRG2	MT-ND4	DEPDC5	MT-TW	MECP2	SYT1	GABBR2	CIZ1	MT-TV	MT-ATP6	MT-ND6	CHRNA4	MT-ND1	GABRB3
HP_HEPATOBLASTOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATOBLASTOMA	RTL1	GPC4	GPC3	APC	TTC37	SETBP1	SOX11	SOX4	SMARCE1	DLK1	SMARCB1	ARID2	ARID1B	SKIV2L	SMARCD1	SMARCC2	CDKN1C	MEG3	SMARCA4	KCNQ1OT1	SLC37A4	ARID1A	IGF2	DPF2	KCNQ1	DZIP1L	PKHD1
HP_MEDULLOBLASTOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEDULLOBLASTOMA	BRCA2	PALB2	SMARCB1	SUFU	DICER1	ASXL1	APC	NBN	CHEK2	KEAP1	PTCH1	MDM2	CTNNB1	ELP1	MLH1	PTCH2	CDKN2A	TP53
HP_EPENDYMOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPENDYMOMA	TSC1	SETBP1	MDM2	APC	CDKN2C	IDH1	ERBB2	CDKN2B	TSC2	ZFTA	NF2	TP53	CDKN1B	MLH1	CHEK2	CDKN1A	IFNG	MEN1	CDKN2A	RELA
HP_THYROID_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THYROID_CARCINOMA	FASLG	SEC23B	CDC73	SDHD	SOX4	FAS	FOXE1	SLC26A4	PRKAR1A	SMARCB1	CDKN2B	ARID2	APC	SMARCC2	KCNJ10	HRAS	KEAP1	FLCN	SDHC	MEN1	PRKCD	PTEN	HABP2	TG	RASGRP1	ARID1A	SRGAP1	MINPP1	DPF2	CDKN1A	CDKN2A	TP53	NKX2-1	RET	SOX11	DICER1	PIK3CA	FOXI1	SMARCE1	ARID1B	SMARCD1	CDKN1B	JAG1	CHEK2	SMARCA4	CASP10	WRN	SDHB	MDM2	CDKN2C	AKT1	NRAS	KLLN	BMPR1A	USF3	GREM1
HP_PITUITARY_ADENOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PITUITARY_ADENOMA	MEN1	GANAB	PRKAR1A	BICC1	GNAS	PDE11A	TSC1	YY1	CDKN2B	MSH6	CDH23	GPR101	CDKN1B	RPS20	AIP	MLH3	APC	TGFBR2	PDE8B	BMPR1A	SEMA4A	USP8	IDH1	DNAJB11	FAN1	CDKN1A	MSH2	PRKACA	KRAS	PKD2	PMS1	EPCAM	ARMC5	PMS2	ALG9	IDH2	MLH1	TSC2	CDKN2C	PIK3CA	PKD1
HP_NEOPLASM_OF_THE_PANCREAS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_PANCREAS	CDC73	DKC1	STK11	MEN1	RABL3	SMAD4	CDKN2B	RNF43	RAD51C	BRCA2	CDKN2A	CDK4	MLH3	USB1	TP53	TGFBR2	KRAS	RAD51D	NBN	CDKN1A	APC	MSH2	BRIP1	COL14A1	MAFA	KCNJ11	PMS1	POT1	BAP1	CDKN1B	CHEK2	PTEN	MLH1	BRCA1	CTC1	PALLD	NOTCH3	AAGAB	TERC	VHL	PALB2	CLCNKB	BRD4	CCND1	BARD1	RAD51	SLC12A3	PDGFRB	EWSR1	MSH6	NOP10	RPS20	NPM1	NTHL1	BMPR1A	SEMA4A	MGMT	FAN1	MRE11	RTEL1	EPCAM	SPINK1	MITF	PMS2	CTRC	TINF2	RAD50	WRAP53	PRKAR1A	FLI1	TERT	WT1	TERF2IP	GCGR	MDM2	CDKN2C	ACD	PIK3CA	NUTM1	NHP2	MC1R	PARN
HP_PAPILLARY_THYROID_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAPILLARY_THYROID_CARCINOMA	SOX11	SOX4	SMARCE1	SMARCB1	ARID2	ARID1B	MINPP1	SEC23B	APC	SMARCD1	SMARCC2	JAG1	PRKAR1A	HRAS	SMARCA4	FOXE1	NRAS	ARID1A	SRGAP1	DPF2	HABP2	DICER1	NKX2-1
HP_NEOPLASM_OF_THE_LIVER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_LIVER	APC	RTL1	GPC3	TNPO3	FASLG	HFE	KLF11	CPOX	WT1	ARID2	SKIV2L	HMBS	CASP8	SMPD1	FAH	ABCC8	CDKN1C	REST	GNAS	H19	PRKCD	G6PC1	HBB	MLH3	JAK2	SPRTN	KCNQ1OT1	TGFBR2	RABL3	SERPINA1	SLC37A4	RASGRP1	SLC25A13	IGF2	SEMA4D	HNF4A	PAX4	DPF2	IGF2R	TCF4	CC2D2A	MMEL1	DZIP1L	MSH2	AXIN1	GPC4	MET	KRAS	CTNNB1	PMS1	INPP5E	GCK	MSH6	CDKN2A	IRF5	SPIB	AHCY	SMARCD1	POU6F2	MEG3	PIK3CA	SMARCA4	MLH1	BRCA1	IL12A	PYGL	CASP10	PHKB	DIS3L2	ABCB11	TRIP13	PHKG2	ABCB4	PALB2	STAT6	BMP2	BRCA2	RPGRIP1L	SOX4	TRIM28	FAS	IL12RB1	SMARCB1	ZFTA	TJP2	NEUROD1	SMARCC2	RPS20	SMAD4	GPR35	INS	SLC2A2	KCNJ11	MST1	BMPR1A	ARID1A	SEMA4A	HNF1A	TNFSF15	KCNQ1	FAN1	TP53	UROD	TTC37	SETBP1	SOX11	PALLD	PHKA2	EPCAM	SMARCE1	DLK1	BLK	ARID1B	PMS2	APPL1	PDX1	JAG1	PDGFRL	PRKAR1A	F5	ATP7B	NAB2	TMEM67	CEL	POU2AF1	GIMAP5	PPOX	PKHD1	RELA
HP_PARATHYROID_ADENOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARATHYROID_ADENOMA	CDC73	GCM2	CDKN1B	MEN1	TSC1	SLC12A3	CLCNKB	RET	IDH1	NF1	FLCN	IDH2	CASR	TSC2
HP_EMBRYONAL_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMBRYONAL_NEOPLASM	RTL1	GPC3	APC2	APC	CDC73	WT1	ASXL1	RB1	VAMP7	ARID2	KIT	SKIV2L	ZFPM2	NR0B1	CDKN1C	REST	H19	MNX1	GATA4	SLC22A18	SOX9	KCNQ1OT1	MAP3K1	EXT2	SLC37A4	IGF2	DICER1	DPF2	HDAC4	NR5A1	DZIP1L	BUB1B	GPC4	FIBP	NSD1	PIK3CA	SMARCD1	POU6F2	MEG3	SMARCA4	BLM	WWOX	DIS3L2	TRIP13	CHEK2	PHF21A	BRCA2	SOX4	TRIM28	DMRT3	SMARCB1	SETD2	SMARCC2	BCL10	PTCH1	ARID1A	BUB1	KCNQ1	PAX6	BMPER	PALB2	TTC37	SETBP1	SOX11	SMARCE1	DHX37	DLK1	ARID1B	SPRED1	PRKAR1A	TP53	FGFR3	BUB3	ALX4	CEP57	MSH3	STK11	TRIM37	SRY	PKHD1
HP_HYPOKALEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOKALEMIA	TP53	HSD11B2	CACNA1S	NOS1AP	GABRA3	CYP17A1	MAGED2	SLC12A3	SCNN1B	KCNJ5	CASR	BSND	SLC12A1	CYP11B2	CALM2	CYP11B1	GATM	SCNN1G	EHHADH	SCN4A	KCNQ1	AKAP9	CACNA1D	SLC4A1	SLC34A1	INSR	SCNN1A	TBX5	CTNS	CALM1	KCNJ18	BMPR1A	OCRL	KCNJ10	USP8	UNC45A	CALM3	AIP	TRDN	CLCN2	SMAD4	SCN5A	SLC26A3	SLC2A2	SCN4B	CDH23	SCN10A	KCNJ1	ATP1A1	FXYD2	KCNH2	CLCNKB	COL3A1	CAV3	KCNE3	NDUFAF6	KCNE2	CLDN10	ANK2	NR3C1	DEF6	CLCNKA	ATP6V0A4	KCNE1	CACNA1C	KCNJ2	SNTA1
HP_HYPOCALCEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOCALCEMIA	FAM111A	COMT	TBCE	GNAS	CYP27B1	TRPM6	PREPL	TCIRG1	GATA3	TBX1	CTNS	VDR	ORAI1	FAT4	FARSB	DGCR6	HADHA	CYP2R1	OSTM1	CAMKMT	PRKAR1A	ADAMTS3	PIK3C2A	HADHB	GCM2	PTH	CSF1R	DGCR2	GNA11	ARVCF	CHD7	SLC4A1	UFD1	CLCNKB	ACADVL	MT-CO3	PDE4D	RMRP	FOXP3	SEMA3E	JMJD1C	IFT122	SNX10	CA2	HLA-DQA1	SLC12A3	HIRA	CASR	PLVAP	CACNA1C	CCBE1	CLCN7	SLC3A1	LPIN1	RYR1	MT-CO1	HLA-DQB1	FGF23	TNFSF11	BTK	USP53	PPM1B	ALG12	GNB2	CYP3A4	UBR1	GNAS-AS1	DGCR8	SEC24C	RREB1	STX16	GP1BB	CAV1	ESS2	TNFRSF11A
HP_HYPERPHOSPHATEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPHOSPHATEMIA	FAM111A	GNAS	GNA11	TBCE	KL	CASR	TNFRSF11B	GALNT3	GCM2	PTH	GNAS-AS1	RYR1	STX16	LPIN1	PGAP2	MT-CO3	CACNA1S	PDE4D	PRKAR1A	MT-CO1
HP_MICROSCOPIC_HEMATURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROSCOPIC_HEMATURIA	CTNS	LMX1B	FN1	CLCN5	KCNE5	LMNB2	NOS1AP	SMARCAL1	AMMECR1	LPIN2	SLC37A4	INF2	NUP85	ACSL4	F2	COL4A5	ADAMTS13
HP_CONJUGATED_HYPERBILIRUBINEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONJUGATED_HYPERBILIRUBINEMIA	AKR1D1	TTC26	TNPO3	SLC17A5	SLCO1B3	GLRX5	VPS33B	IL12RB1	ABCC2	IRF5	SPIB	PKHD1	ABCB11	SLCO1B1	ATP8B1	VIPAS39	IL12A	NR1H4	SLC2A1	BAAT	TNFSF15	KIF12	MMEL1	POU2AF1	SLC51A
HP_GENERALIZED_AMINOACIDURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_AMINOACIDURIA	SLC34A1	NDUFAF6	CYP27B1	SLC2A2	ETFA	NGLY1	CYP2R1	DGUOK	FAH	ETFDH	CTNS	EHHADH	GATM	ETFB
HP_ELEVATED_HEPATIC_TRANSAMINASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_HEPATIC_TRANSAMINASE	AKR1D1	SAR1B	EFL1	RINT1	CYP7B1	OFD1	TRAPPC11	TMEM67	LBR	SLC25A13	MPV17	GPD1	ASL	CFH	ALG8	DPM1	DPM2	CD19	FAH	RRM2B	G6PC1	RNASEH2A	ASAH1	YARS2	PDE8B	SERPINA1	DDOST	POLG	TNFRSF13B	KIF23	SUCLG1	PEX19	TCF4	CC2D2A	MED12	HADHA	PSMB8	LIG3	SLC51A	GNE	TTC26	NR1H4	HSD17B4	COX5A	ATP8B1	C1QBP	IER3IP1	ALG12	INPP5E	TWNK	ATRX	HELLPAR	ALDOB	PEX13	TMEM199	COX16	HJV	SLC25A20	STEAP3	EIF2AK3	OCRL	BRCA1	PYGL	CFAP418	PHKB	CFI	DLD	SMPD1	CBS	MARS1	TNFSF12	GALT	DEF6	PRF1	ACADVL	DPAGT1	MT-CO3	CPT2	ADK	RNASEH2C	DOLK	IFIH1	PHKG2	RNU7-1	PALB2	GAA	HSD3B7	RNASEH2B	SC5D	HLA-DQA1	ABCD3	SBDS	GDF2	SRD5A3	NFKB1	WDR35	CALR	BSCL2	CPT1A	SMAD4	VIPAS39	PGM1	AGPAT2	PEX16	LIPA	TKFC	SPTBN1	STOX1	SLC37A4	AMACR	ALMS1	PHKA2	HLA-B	TP53	PSMB4	PMM2	SRP54	ACADM	PRKACA	SLC25A4	FAN1	SDHD	PALLD	MRPL44	POLD1	HNF1B	POLG2	AGL	TMEM165	PKHD1	JAG1	TRMU	CSPP1	ABCB4	DCDC2	DNAJC21	TYMP	TRMT10C	ACAD9	PEPD	ERCC4	TANGO2	LARS1	HMGCL	NOS3	HADH	ALAS2	FADD	GIMAP5	SP110	SLC22A5	SAMHD1	DHDDS	RAG1	MRPL3	HADHB	MVK	VPS33B	COG2	IFT172	MYH9	RAG2	ADAR	FBXL4	NFKB2	IKZF1	KIAA0586	CAVIN1	FBP1	RABL3	LIPT1	MICOS13	NGLY1	FARSB	SEMA4D	TREX1	DGUOK	RBCK1	COG8	SCO1	OCLN	CYC1	CORIN	CD46	PNPLA2	COG4	BICRA	GLRX5	PSMB9	CLPB	GYS2	MS4A1	SLC30A10	CR2	FLT1	CDKN2A	AHCY	HFE	OTUD5	ATM	ICOS	FARSA	B4GALT1	HMOX1	ACSF3	LHX1	MICU1	ABHD5	USP18	BAAT	CD81	JAK2	NFS1	ERCC8	FOXP3	ATP6AP1	TFR2	MRPS28	DPM3	STX11	PRKAR1A	VPS13A	BMP2	PDE11A	RPGRIP1L	MTX2	TFAM	DMD	ABCB11	ATP7B	PRKCD	GPR35	TNFRSF13C	BRCA2	SLC2A2	COG6	LYST	MST1	LPIN1	ALG6	MRPS16	LDHA	HAMP	COG5	SLC35A2	MT-CO1	STXBP2	HLA-DQB1	SLC25A15	ALG11	NSMCE2	MTTP	IARS1	ZNFX1	USP53	ACOX1	UNC13D	SLC51B	ERCC6	NBAS	GNMT	ATP6AP2	CCDC115	DAXX	COG7	KRAS	SLC7A7	HNF4A	UQCRC2	F5	BCS1L	ADA2	KIF12	DNAJC19	IL18BP	PPOX	BCAT2
HP_METHYLMALONIC_ACIDEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METHYLMALONIC_ACIDEMIA	MCEE	SUCLA2	LMBRD1	ACSF3	PRDX1	MMAB	ABCD4	MMADHC	SUCLG1	MMACHC	MMUT	MMAA	HCFC1
HP_MYOGLOBINURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOGLOBINURIA	PYGM	ANO5	PHKA2	HADHB	DMD	PGK1	LDHA	CRPPA	PFKM	PHKB	ACADVL	RYR1	COQ2	SGCB	ISCU	HADH	LPIN1	FKRP	CPT2	MT-CO3	CACNA1S	MT-CO1	TANGO2	PHKA1	HADHA	PHKG2	ALDOA	PGAM2
HP_HYPERCHLORIDURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERCHLORIDURIA	CLCNKB	BSND	SLC12A1	CLCNKA	KCNJ1
HP_ABNORMALITY_OF_CHROMOSOME_SEGREGATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CHROMOSOME_SEGREGATION	BUB1B	TSC1	CDAN1	RAI1	ESCO2	NKX2-5	SEC23B	TRIP13	GJA1	SHH	MECP2	LBR
HP_HYPERMAGNESEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERMAGNESEMIA	AP2S1	CLDN10	GNA11	SLC12A3	CASR	ALDOB	CLCNKB
HP_KETONURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KETONURIA	ABCC8	GYS2	SLC25A13	GCK	COX14	PCK1	PDX1	COX16	STAT3	MMAA	SDHD	INS	MCEE	GCDH	MCCC1	OXCT1	TANGO2	CA5A	KCNJ11	MMAB	HMGCL	SUGCT	MCCC2	SLC16A1	MMACHC	ACAT1
HP_DECREASED_CIRCULATING_ACTH_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_ACTH_LEVEL	PROP1	PRKAR1A	PRKACA	SUFU	PDE11A	CDH23	GLI2	ARMC5	LHX4	MEN1	SMARCE1	LHX3	NF2	POU1F1	HESX1	NFKB2	BAP1	GNAS	TRAF7	TERT	SOX3	FOXA2	PDGFB	SMO	PDE8B	SMARCB1	AIP	AKT1	OTX2	PIK3CA
HP_ABNORMALITY_OF_THE_CEREBROSPINAL_FLUID	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CEREBROSPINAL_FLUID	FKTN	NOTCH2NLC	SLC25A4	DCC	B3GALNT2	CCDC40	TBCK	SLC2A1	HYLS1	RAC3	GPC3	COX7B	TAF2	TCIRG1	SUMF1	FANCC	TGIF1	CEP41	PIEZO2	TMEM67	UNC45A	FANCF	NDUFA10	MTHFR	ERCC4	TTC26	FANCD2	SMARCE1	B9D1	ZIC3	CDON	RSPH1	CC2D2A	ERCC5	TRAF3	FGFR1	MT-CO1	TRAF7	OFD1	ESCO2	MT-ND1	PRF1	NDUFAF3	CILK1	FRAS1	FOXJ1	IFIH1	CHST3	PSAP	MBTPS2	TSC1	PHYH	TXN2	TH	GLI3	NDUFS8	UNC93B1	CRPPA	CTNNB1	DNMT1	MAD2L2	FANCA	STIL	MT-TF	SKI	GALC	CLCN3	PET100	TGFBR1	FANCB	SIX3	SPTBN1	FGFR3	HRAS	KARS1	RSPH9	FAM20C	MMACHC	RNASEH2B	SMOC1	NDUFB10	FLNA	RMND1	PTCH1	PLG	ODAD3	ZIC2	RNASEH2C	HDAC6	DISP1	MT-TL1	DNAJB13	TIMMDC1	TERT	PDGFB	DHCR7	TGFBR2	FTO	FIG4	ZPR1	PIK3CA	KDM6A	COX14	NDUFV2	PRX	PIK3R2	HCCS	POMGNT1	DNAH5	FGFR2	ADAR	NDUFA4	NDUFAF4	DNAAF11	TBX1	PDHX	SPAG1	ODAD1	DNMT3B	FAM111A	NGLY1	INPP5E	ARSA	SIK3	NDUFS7	NDUFAF2	CEP104	LSM11	FGF8	DOCK6	MT-TK	HELLS	GLI2	TSC2	CCDC65	B4GALT1	GAS1	ERCC6	POMK	RRM2B	MICU1	LMBR1	NDUFA12	FANCE	STX11	DLL1	SNX10	CEBPE	GFM1	FLVCR2	AASS	PPP1CB	PTDSS1	TMEM107	MKS1	PDHA1	CSPP1	PIGU	MT-ND6	DLL4	SLC29A3	POMT2	B4GAT1	WDR81	TMEM138	PTEN	ECHS1	VANGL1	RAD51	XRCC2	NDUFB11	IFT172	CCND2	RNASEH2A	COX4I1	SLC19A3	COX15	BRCA1	TCTN2	TNFRSF11A	NDUFB3	ZMYND10	DRC1	AKT3	KDM4B	SOX2	PET117	TICAM1	ZBTB24	EBP	SCO2	FOXRED1	CTBP1	STAG2	POLG	OSTM1	LIG3	PNPO	PRKAR1A	MT-TW	MPZ	GCH1	TMEM216	MC1R	CENPF	CPLANE1	SUCLG1	TMEM237	TP53	IDUA	FKRP	PPP2R1A	PPP2R5D	LARGE1	HPDL	UFD1	FTL	SEC24D	EML1	TACO1	EGR2	BRAF	HLA-DQB1	HIRA	MCIDAS	CEP290	PALB2	ERCC8	WASHC5	CLCN7	FANCG	SMARCB1	DDC	RPGRIP1L	MT-CO3	HERC1	SUFU	SHH	TDGF1	NOTCH1	NDUFB8	TMEM126B	TRIM71	NSUN2	TBXT	PRNP	MUSK	SEC24C	LONP1	PRRT2	CDCA7	AIFM1	TMEM231	NODAL	DNAAF6	FBN1	B9D2	POR	CPLX1	NDUFS3	GMPPB	RSPO2	MAP2K1	ZNF423	USP7	CCDC39	COA8	CCNO	CEP83	MT-TS2	NDUFS4	OCLN	KATNIP	CRB2	SLX4	DNAAF5	RPGR	KIAA1109	TRPV4	ALG13	BAP1	TCTN3	NEU1	SMO	MAN2B1	HTRA2	NOTCH2	CD59	MT-ND5	TXNDC15	MTM1	DNAI2	MT-TV	MT-ATP6	PMP22	CCDC88C	CCDC22	UBE2T	DENND5A	GLUL	TAOK1	RPIA	MT-ND4	NDUFA11	COX20	ARL3	STXBP2	NDUFA8	FUZ	NEK10	GPSM2	NDUFA6	TRAPPC12	SF3B4	MED12	GFAP	RFWD3	NDUFS1	MFN2	B3GLCT	NDUFAF5	DAG1	RREB1	GLYCTK	MPV17	TBK1	NUBPL	HYDIN	COMT	NAXE	CEP120	CLIC2	NDUFA13	GBA	KANSL1	MT-ND3	NDUFV1	ERCC3	MRPS34	DNAAF2	LMNB1	ZNHIT3	ERF	PEX19	AMER1	AHI1	IGKC	GPC4	LAMB1	GRIK2	ODAD4	NDUFS2	LRRC56	MT-TH	MTRFR	NDUFS6	RANBP2	FOXH1	SURF1	NDUFAF1	DNAI1	MADD	FANCL	PTCH2	DNAH1	SLC25A24	LRPPRC	SLC12A2	RECQL4	ARHGAP31	OGDH	HNRNPU	L1CAM	DARS2	CFAP300	TRNT1	CCL2	KIAA0586	NRAS	COL4A1	MDH2	POMGNT2	SLC17A5	NPHP1	MT-CO2	PIGV	TSPOAP1	SCN1A	TRMT10C	LMNB2	NSD2	CPT2	TLR3	FANCI	SAMHD1	GFM2	KIF7	POMT1	NDUFA9	LIG4	BUB1B	PRDX1	DNAAF4	BICRA	GCDH	CDC40	ROGDI	ABHD5	IGHG2	RASA1	TK2	ZBTB20	RAD51C	TCTN1	ATP1A2	EPHB4	GAS2L2	KIF1A	COG6	DHCR24	ODAD2	ARL13B	MECP2	ARSB	TMEM222	PYCR1	UNC13D	NDUFA2	NF1	COQ8A	BRCA2	GP1BB	HLA-DRB1	CFAP221	EOGT	NDUFA1	HSD17B10	NDUFB9	SOX9	IRF4	HBA1	MT-CYB	HSPG2	PNPT1	RARS2	TTC12	BTNL2	GNAQ	VPS33A	RXYLT1	CFAP298	VAC14	PIBF1	GAS8	NF2	DLAT	DNAAF3	VSX1	CSF1R	ARVCF	NDUFAF8	RNF125	SLC12A6	MPDZ	AKT1	SPEF2	AP1S2	MT-ND2	TREM2	RSPH3	SAMD9	HBA2	TET3	SMC1A	VANGL2	TUBB3	CYP26C1	SHOC2	POLR3A	IFT43	GUSB	DNAAF1	CACNA1A	TNFSF11	SLC13A5	RPGRIP1	PORCN	TYMP	SLC13A3	ALDH4A1	WNT3	MAF	FANCM	B3GALT6	FGFRL1	MTRR	NDUFAF6	STK36	COX6B1	BRIP1	DNAL1	SDHA	CBY1	B3GAT3	RSPH4A	P4HB	LIPT1	COL18A1	DNAH9	MTFMT	TYROBP	KRAS	PEX7	SLC25A19	MT-TN	JMJD1C	COX8A	ARMC9	DPH1	LETM1	KMT2D	CCDC103	SLC39A8	TBX15	ERCC2	MAP2K2	TTR	CFAP43	TREX1	ASPA	ALDH5A1	PAK3	PPP1R21	COX10	IDS	DNAH11	RBPJ	NME8	MT-TQ	NARS2	BCAT2
HP_RHEUMATOID_FACTOR_POSITIVE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RHEUMATOID_FACTOR_POSITIVE	PGM3	IFNGR1	FASLG	PTPN22	NFKBIL1	CYBC1	CARD10	FAS	RASGRP1	STING1	CASP10	CD244	CIITA	RIPK1	SLC22A4	IL10	PRKCD
HP_ELEVATED_CIRCULATING_THYROID_STIMULATING_HORMONE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CIRCULATING_THYROID_STIMULATING_HORMONE_CONCENTRATION	NKX2-1	PAX8	CDH23	TSHR	SMARCAL1	DUOX2	DUOXA2	DCAF17	SLC16A2	PDGFRB	SLC5A5	SECISBP2	TPO	SLC35A2	PMM2	IYD	THRB	ALMS1	TG	PSMB8	PRKAR1A
HP_ABNORMALITY_OF_THYROID_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THYROID_PHYSIOLOGY	CACNA1S	IL7R	COMT	LHX4	OPA1	TRHR	FLCN	SKIV2L	STUB1	SUGCT	RAG2	KANSL1	TXNRD2	DNM1L	LEPR	SHH	HBB	GTF2I	SNRPN	CTNS	NCF1	TGIF1	EXT2	PROP1	DCAF17	TSHR	DUOX2	TSC2	YY1	THRB	EIF4H	SOX3	BAP1	C1QBP	RAG1	MSTO1	MT-TL2	MT-TN	TWNK	MT-TH	SMARCE1	NODAL	CDON	KCNJ18	FOXH1	POMC	FGF8	FGFR1	MT-CO1	TRAF7	TSC1	CHD7	STAT1	MPI	MARS1	MT-ND1	FOXE1	CLCNKB	POLG	TREX1	PHF21A	ARNT2	RNASEH2C	TG	PLAGL1	IFIH1	TDGF1	RNU7-1	SEMA3E	FDX2	PLAG1	TBCK	HYMAI	ABCC6	FUT8	SRD5A3	WFS1	SGPL1	CTNNB1	LEP	BUB1B	WDR4	STIL	BCL7B	MT-TF	PTCH1	TONSL	SIX3	JAK1	KARS1	KDM6A	IYD	ALMS1	LHX3	OTX2	PMM2	HSD17B3	SLC25A4	TTC37	MAGEL2	ZIC2	HNF1B	MT-CO2	POLG2	PCSK1	PRDM16	NKX2-1	IFNG	POU1F1	DISP1	HPD	MT-TL1	GATA1	GNE	POU3F4	TERT	METTL27	GATA6	KATNIP	TF	PDGFB	TANGO2	PTRH2	CEP57	ARL6IP6	APOE	LRBA	NKX2-5	OCA2	ATP6V1B2	PIK3CA	TPO	AIRE	ADAT3	RERE	GNAS	NPHS1	KCNJ10	ADAR	ELN	ENPP1	USP9X	TBX1	FMR1	RFC2	LIG4	NDN	PIEZO1	BICRA	FKBP6	CLPB	HMGA2	BMP4	DUOXA2	GLIS3	TRH	FOXP1	IGSF1	RAI1	FARSA	B4GALT1	PDE4D	GAS1	CDH23	TSHB	DMXL2	ITCH	BUD23	ANAPC1	DNAJC30	FOXP3	DNAH1	GLI3	DLL1	TMEM67	MADD	FLII	SAA1	SLC26A4	PTEN	ABCB11	VPS37D	SLC16A2	THRA	DEAF1	SALL1	NNT	BUB1	AIP	SECISBP2	GLI2	TRIP13	MTTP	ATP8B1	B3GLCT	KISS1R	HNRNPK	WDR11	MT-ND4	GP1BB	RNASEH2A	AFF4	HLA-DRB1	ACP5	SVBP	LRP4	BCOR	EXOSC2	POLR3GL	MOGS	GABRA3	YRDC	MLXIPL	MT-ND6	SRY	IRF4	AKT1	XRCC4	CDKN1B	CPE	RRM2B	SLC6A17	TBC1D24	APC	SLC5A5	STAG2	SMARCAL1	DDOST	BTNL2	LIMK1	STAR	PRKAR1A	IGF2	MT-TW	NR1H4	KAT6B	GCH1	FGF13	KMT2D	INSR	PRKCZ	SPOP	NF2	FANCI	STEAP3	UBE4B	EIF2AK3	CYP27A1	ARVCF	NEXMIF	FOXA2	SMO	UFD1	KCNJ11	DDB1	NSD1	HESX1	CDKN1C	ADAMTSL1	ABCC8	PAX8	RNASEH2B	SLC12A3	MDM4	SLC37A4	HIRA	KCNAB2	SETD2	PPP1R15B	CACNA1C	SMC1A	STAT3	TRAPPC9	SMARCB1	GPR161	MMP23B	UBR7	PROKR2	MT-CO3	SETBP1	SUFU	PDPN	MCM8	FOXI1	DACT1	UBR1	ADA	SEC24C	BUB3	TBL2	ALX4	ZFP57	ROBO1	SAMHD1	APC2	LIFR	HSPG2	SPEN	ABCB4	DYRK1A	DCLRE1C	IL2RG	TMEM270	GRM7	MT-TS2	PIK3C2A	ZBTB20	SIM1	RPL10	STX1A	ALG8	IL2RA	BAZ1B	SCN4A	CASZ1	TBL1X	MT-ND5	MRAP	JMJD1C	PLAA	GTF2IRD2	NIN	PLVAP	BRAF	LUZP1	TRMT10A	IPO8	POLR3A	IRS4	HFE	MEN1	GABRD	SKI	FUCA1	MC2R	RBM28	RREB1	IQSEC2	CLIP2	GTF2IRD1	RMRP	MT-TQ	DNAJC19
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	NDUFAF2	GLRX5	PDHX	NDUFS2	NDUFAF6	NDUFV2	NDUFA2	PDP1	ECHS1	NDUFA13	PDHA1	LIPT1	NDUFS1	FOXRED1	NDUFA4	SURF1	MTFMT	PDHB	NDUFS3	NDUFS4	SLC39A8	SDHA	PET100	SLC19A3	NDUFA9	NDUFA12	DLAT	COX15	NDUFS7	NDUFV1	NDUFAF5	TACO1	NDUFS8	NDUFA10
HP_DISTAL_SENSORY_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_SENSORY_IMPAIRMENT	TDP1	GDAP1	VCP	AIFM1	POLG	COA7	SPG11	HARS1	GBF1	LITAF	RAI1	BAG3	CADM3	SPTLC1	PRX	CHCHD10	GARS1	INF2	PIK3R5	PMP22	LMNA	TWNK	YARS1	SAMD9L	MTMR2	TFG	DNM2	MME	HINT1	ATL3	PRPS1	ATXN1	TYMP	DNAJB2	MORC2	MPZ	SLC25A46	KIF5A	MARS1	IGHMBP2	NAGA	NEFL	SBF1	TRPV4	SACS	KLHL9	ATL1	ATP7A	MTRFR	KIF1A	FBLN5	REEP1	ATP13A2	LRSAM1	RASA1	PEX10	PDK3	TK2	HSPB1	NTRK1	GBE1	SBF2	EGR2	HSPB8	MFN2	SCYL1	AASS	SPTLC2	JPH1	ABCD1	DHH	HK1	GJC2	SH3TC2	CAV1	C19orf12	CAPN1	PLEKHG5	DCAF8	MED25	MATR3	IARS2	APTX	DARS2	AARS1	KIF1B	SYT2	SERPINI1	CCT5	GAN	ABHD12	NDRG1	MSTO1	COX6A1	FIG4	MTTP	KARS1	NAGLU	LMNB1	POLR3A	SETX	PNKP	MCM3AP	IBA57	GJB1	MPV17	GNB4	ALDH4A1	NEFH	SOX10	XRCC1	FGD4	BSCL2	DDHD1	CYP7B1	DYNC1H1
HP_HEMIVERTEBRAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMIVERTEBRAE	IKBKG	RTL1	ORC1	MBTPS2	SUFU	MESP2	PTCH1	CCDC22	FZD2	MADD	RAD21	KDM6A	SOX2	ROR2	POR	GLI3	WNT5A	KYNU	TMEM251	KMT2D	TBC1D24	WASHC5	TBX6	WNT7A	PUF60	MYH3	PTCH2	DLL3	TMCO1	RIPPLY2	DVL3	DLK1	CHD7	SON	SIX6	FGFR1	JAG1	B3GLCT	MEG3	HES7	SEMA3E	TBX2	EIF5A	FANCB	EBP	STAG2	CDK10	DVL1	CAPN15	ATRX	ATP6V1B2
HP_LUMBAR_HYPERLORDOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LUMBAR_HYPERLORDOSIS	RERE	COL12A1	COL10A1	TPM2	DDRGK1	DAG1	COMP	POMGNT1	ADAMTS10	VCP	PLEC	POMT1	VPS13B	RAB3GAP2	ALG2	SMARCAL1	FGFR3	ACP5	DYM	RYR1	MATN3	SYT1	VPS33A	COL11A2	COL2A1	SATB2	MYPN	CHST3	BGN	XYLT1	POMT2	GMPPB	ACTA1	SELENON	HSPG2	SON	TRPV4	OBSL1	POMK	COL6A2	TOGARAM1	COL6A3	DPAGT1	PRKG2	MFN2	GARS1	TPM3	CLCF1	FKRP	TRAPPC2	PCGF2	SHOX	IHH	GFPT1	SGCG	RMRP	DMD	LMX1B	MED12	NPR2	KY	TONSL	FN1	FBN1	ACAN	MYBPC1	MYH7	NSDHL	HACE1	HERC1	FUCA1	ARSB	SOX5	SLC26A2	COL6A1	NAA10	ALX3	ITCH	PIEZO2	EXTL3	BCOR	AP1G1	POLR3GL	ALG14
HP_THORACIC_KYPHOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACIC_KYPHOSIS	ALDH3A2	WDR81	TRAPPC2	SMARCAL1	MGAT2	GBA	DMD	PHF8	NPR2	MAN2B1	KY	ANKRD11	MED12L	TONSL	DYM	AIFM1	RYR1	KIF22	PIK3C2A	VPS33A	COL2A1	LHX3	GNPTAB	ERCC3	TMEM231	AMER1	GUSB	NEPRO	MPLKIP	POP1	GTF2H5	TARS1	CCN6	NARS1	XYLT2	FGFR3	CYP27A1	PUF60	RNF113A	TRPV4	GTF2E2	PRKG2	MIR140	SRD5A3	ERCC2	CDH11	EXTL3	AP1G1	SLC26A2	FLNB
HP_THORACIC_SCOLIOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACIC_SCOLIOSIS	WDR81	MOGS	PLOD1	TPM3	CHRND	PCGF2	LMNA	PIK3R2	AEBP1	DMD	VPS13B	DOK7	MUSK	CHRNE	SPRTN	GDF3	IARS2	NEK9	AGRN	TUBB3	LRP4	ALMS1	CHRNA1	MYPN	SGCA	PUF60	MTRFR	PEX5	CHRNB1	SCN4A	SOX5	ZMPSTE24	TBX5	DES	ERLIN1	AK9	RAPSN	RBBP8	ITCH	COL2A1	HINT1	COL13A1	PRKG2	PYCR2	TPM2
HP_THORACOLUMBAR_SCOLIOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACOLUMBAR_SCOLIOSIS	NEPRO	PAPSS2	CLCF1	POP1	IGBP1	RPL10	LONP1	CCN6	ROR2	NIN	GNB2	MGAT2	GLIS3	RSPRY1	IL6ST	AP1G1	TBC1D24	COL1A2	COL2A1	PIEZO2	CDH11	USP9X	ATG7	MYO18B	COL6A2	IDH1	ALMS1	LHX3	PDGFRB	MED12	GNPTAB	SLC26A2	ROBO3	ATP6V1B2
HP_INTERVERTEBRAL_SPACE_NARROWING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERVERTEBRAL_SPACE_NARROWING	FN1	CHST3	MT-ATP8	COL2A1	TRAPPC2	RRM2B	MT-TL1	LTBP3
HP_SUPERNUMERARY_VERTEBRAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPERNUMERARY_VERTEBRAE	GPC4	DHODH	GDF11	GPC3	PAX3
HP_CERVICAL_KYPHOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVICAL_KYPHOSIS	DSE	SLC26A2	CHST14	FLNB	ARSL	RIPPLY2
HP_VERTEBRAL_FUSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERTEBRAL_FUSION	FLNB	GPC3	SMAD4	SUFU	FGD1	PTCH1	DKK1	VANGL1	NOTCH3	CPLX1	FGFRL1	NTN1	SOX2	ROR2	MEOX1	RBM8A	MESP2	LETM1	MYH3	ABCC6	ANKRD11	CTBP1	TBX6	GDF3	FKRP	FN1	HGD	PUF60	DNAL4	FUZ	FLNA	IL1RN	GPC4	GDF5	COL2A1	SOX5	MAP3K7	PTCH2	DLL3	SIX6	GDF6	FANCI	CHRNG	KANSL1	SALL4	DCC	HES7	CHRNA1	WBP11	NOG	NADSYN1	NSD2	FGFR2	AFF4	MYO18B	RAD51	MAFB	ACVR1	BMPER	ENPP1	CHN1	CHRND
HP_FUSED_CERVICAL_VERTEBRAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FUSED_CERVICAL_VERTEBRAE	FLNB	COL2A1	DKK1	MAP3K7	NTN1	GDF6	FANCI	MEOX1	CHRNG	DCC	GDF3	RBM8A	PUF60	WBP11	NOG	MYH3	ABCC6	FLNA	FGFR2	AFF4	SALL4	MYO18B	RAD51	ACVR1	ENPP1	DNAL4	IL1RN
HP_VERTEBRAL_COMPRESSION_FRACTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERTEBRAL_COMPRESSION_FRACTURE	XYLT2	PLS3	SCARB2	EFL1	MMP2	WNT1	SERPINF1	MESD	P4HB	SRP54	CCND1	CDH23	DDRGK1	CREB3L1	SBDS	WNT3A	USP8	DNAJC21	UROS	TENT5A	GBA	SPARC	GORAB	NOTCH2	SMS	PYCR1	P3H1	FKBP10	CRTAP	AIP	DKK1	TNFRSF11A	SERPINH1
HP_GRANULOMATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GRANULOMATOSIS	CYBA	PRTN3	CTLA4	NCF2	NCF1	ASAH1	CYBB	HLA-DPA1	PTPN22	HLA-DPB1
HP_IMMUNE_DYSREGULATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMMUNE_DYSREGULATION	STX11	LAT	STAT1	PRF1	STXBP2	UNC13D	ACP5	FOXP3	PLCG2	LEPR
HP_AUTOIMMUNITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AUTOIMMUNITY	IFNGR1	TNPO3	FASLG	HLA-DRB1	IRF5	LCK	IL7R	COMT	FCGR2A	TNFAIP3	WAS	STING1	ICOS	SEMA6B	GFI1	C1GALT1C1	RAG2	CDKN1B	CD19	PRKCD	PIK3R1	CTLA4	HAVCR2	COPA	TNFRSF13B	SMARCAL1	PNP	TCF4	MMEL1	TBX1	IGKC	PGM3	RAG1	KMT2D	MMP2	CARD10	PTPN22	SPP1	PSMG2	TRAC	TNFRSF13C	GALC	NFKB2	IL10	BACH2	IL12A	CASP10	C1QA	PTEN	CCN2	ARVCF	ADA2	STAT1	TNFSF12	IRAK1	NRAS	UFD1	DEF6	RIPK1	CLCNKB	MS4A1	RNASEH2C	C8A	IFIH1	CD81	CIITA	RNASEH2B	SLC12A3	IL12RB1	LACC1	HIRA	SERPING1	NFKB1	TPP2	MASP2	CD247	FCGR3B	STAT4	NFKBIL1	STAT3	POLG	TTC7A	HLA-DPA1	STOX1	KDM6A	NBN	ELANE	PTPN2	CAV1	SRP54	LCP2	TREX1	CR2	IL6	MIF	ITPR3	CD244	ADA	LEMD3	SEC24C	C1S	PEPD	ITCH	LMNB2	STIM1	UBA1	LRBA	TCIRG1	POU2AF1	SAMHD1	C2	DNASE1L3	C4A	ITK	SMPD1	NHEJ1	ADAR	DCLRE1C	FOXP3	CD3G	FAS	IL2RG	FCGR2B	COL4A6	CCR6	RASGRP1	ACP5	MAGT1	SEMA4D	KRAS	IL2RB	CORIN	MTHFD1	FADD	FLT1	SEC23B	SPIB	RFX5	CHD7	AIRE	RFXANK	FMR1	COL4A5	IGHG2	PLCG2	WIPF1	HNF1A	RFXAP	C3	JMJD1C	NLRP1	CYBC1	PAX4	RHAG	GRIN2A	RHD	SLC22A4	GPR35	RHCE	ZAP70	LAT	PRTN3	DNASE1	KIAA0319L	MST1	C1QB	ANKRD55	IL2RA	GATA2	ARHGEF1	TNFSF15	CFTR	HLA-DQB1	SOCS1	HLA-DPB1	BTK	CSF2RA	CSF2RB	C1R	FOXD3	LIG4	TBX2	RREB1	SLC7A7	GP1BB	RNASEH2A	DDX41	RMRP	IL18BP	C1QC
HP_DYSGAMMAGLOBULINEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSGAMMAGLOBULINEMIA	NBN	CD40LG	XIAP	SH2D1A	IKBKG
HP_ABNORMAL_DELAYED_HYPERSENSITIVITY_SKIN_TEST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DELAYED_HYPERSENSITIVITY_SKIN_TEST	CIITA	RFX5	RAB27A	NSMCE3	FASLG	EPG5	JAK3	WAS	RFXANK	CASP10	RFXAP	FAS
HP_CUTANEOUS_ANERGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTANEOUS_ANERGY	CIITA	RFX5	EPG5	JAK3	RFXANK	RFXAP
HP_CUBITUS_VALGUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUBITUS_VALGUS	FGF9	RAF1	SIL1	PTPN11	CLCF1	SRY	BRAF	SHOC2	CBL	VPS13B	MAP2K1	NUP107	BCOR	BPTF	PEX1	NOG	PTH1R	TUBB3	DYNC2LI1	SOS1	MAP2K2	WNT4	CHST3	KDM5C	GJA1	LMX1B	POP1	POR	PSMD12	EVC	LZTR1	NF1	LARS2	PEX5	RSPRY1	EVC2	KRAS	SHOX	GLI1	MAPK1	PEX2	CUL4B
HP_GENU_VARUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENU_VARUM	CANT1	COL9A2	ORC1	COL10A1	ENPP1	DDRGK1	COMP	LMOD3	IHH	CFL2	RBM8A	NKX3-2	ACTA1	KLHL41	VDR	HPGD	COL9A1	MMP13	TONSL	CCN6	C12orf57	DYM	CYP2R1	FN1	KIF22	COL2A1	FGFR3	COL9A3	TRIP11	MATN3	SHOX	RECQL4	XYLT1	TPM2	CYP3A4	RAB23	ORC6	DMP1	CYP27B1	TRPV4	ACAN	PHEX	SLCO2A1	TCTN3	EFL1	NEB	KAT6A	ANAPC1	IDH1	UFSP2	PRKG2	RMRP	RPL13
HP_REDUCED_DELAYED_HYPERSENSITIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_DELAYED_HYPERSENSITIVITY	RAB27A	NSMCE3	FASLG	CASP10	FAS
HP_ABNORMALITY_OF_THE_FOREARM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_FOREARM	CANT1	FGF9	MLXIPL	EXOC6B	COLEC10	DONSON	HDAC8	RAD21	VPS35L	RAD51	RIPK4	XYLT1	SALL4	RRAS	ESCO2	MMP9	RBM8A	AGA	RIT1	GTF2I	LMBR1	FANCC	BCOR	APC	NCF1	RAF1	EIF4A3	CHSY1	CTBP1	PIEZO2	LIMK1	EIF4H	FGFR2	TGFB1	TRIO	FANCF	MMP13	PRKAR1A	TBX22	ERCC4	SLX4	BGN	FANCD2	RBM10	EXT1	TBX3	FZD2	DYNC2H1	TWIST1	FANCI	FANCB	ZIC3	EXT2	CHRNG	RAD51C	NOG	NALCN	FGF10	SHOX	CHD7	HOXD13	FGFR3	COLEC11	FANCL	COL5A2	SNRPN	FANCE	FANCA	LRP4	HOXA11	SMC3	BRAF	SEMA3E	CHST3	COL9A2	DHODH	B4GALT7	RECQL4	FKBP10	PALB2	POR	TBX15	IHH	MRAS	SAMD9	MAD2L2	SF3B4	BCL7B	CYP26B1	SKI	B3GALT6	NPR2	CLCN3	FANCG	WNT7A	SOS1	RAI1	COL11A1	GPC6	BMPR1B	IFT43	COL9A3	SLC39A13	NIPBL	CD96	FLNB	SETBP1	IFT81	FLNA	MAP3K7	ALG12	GSC	IFITM5	MYH3	PITX1	JAG1	ARID1B	OBSL1	NRAS	SOS2	PTDSS1	METTL27	COL27A1	COL2A1	TBL2	GDF5	NSD2	CREBBP	RPL26	FGFR1	COMP	MASP1	MAGEL2	MAFB	SHH	CHN1	SMC1A	PDE4D	TRIP11	NDN	RASA2	RFWD3	MAF	FANCM	AFF3	CCNQ	COL10A1	TPM2	DHCR7	CPLX1	FGFRL1	CUL7	KAT6B	TNNI2	MECOM	EXTL3	ELN	ASXL1	MAP2K1	TMEM270	BRIP1	RAB3GAP2	COL9A1	RFC2	KRAS	P3H1	FGF23	B3GAT3	BMP1	BHLHA9	KIF22	COL1A1	BICRA	FKBP6	SPRED2	BRD4	STX1A	SCARF2	MACROH2A1	SLC26A2	ATR	SRCAP	BAZ1B	RPS19	TRPV4	NOTCH2	RRAS2	BUD23	ANAPC1	REV3L	DNAJC30	PRKG2	GLI3	LZTR1	TMEM67	GTF2IRD2	VPS37D	UBE2T	TAPT1	LETM1	RNU4ATAC	LMX1B	CCDC8	PIGT	MAP2K2	COL5A1	EP300	B2M	TBX5	ERCC1	IFIH1	BRCA2	XRCC2	PLXND1	PCNT	CLIP2	COL7A1	CBL	AFF4	GTF2IRD1	BRCA1	AEBP1	TNNT3	PTPN11
HP_RADIOULNAR_SYNOSTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RADIOULNAR_SYNOSTOSIS	RASA2	MAF	MLXIPL	COLEC10	HDAC8	B3GALT6	CPLX1	FGFRL1	RAD21	KAT6B	XYLT1	SALL4	MECOM	RRAS	ESCO2	DONSON	NIPBL	ELN	RIT1	TMEM270	GTF2I	BCOR	APC	DHODH	NCF1	RAF1	CHSY1	CTBP1	RFC2	PIEZO2	KRAS	LIMK1	EIF4H	FGFR2	B3GAT3	TBX22	BICRA	FKBP6	SPRED2	BRD4	STX1A	CANT1	COLEC11	TWIST1	FGFR3	BAZ1B	HOXA11	RRAS2	BUD23	DNAJC30	LZTR1	SMC3	CHST3	GTF2IRD2	B4GALT7	POR	VPS37D	MRAS	SF3B4	LETM1	BCL7B	MASP1	SOS1	SETBP1	TBX5	NRAS	SOS2	METTL27	TBL2	CLIP2	CBL	NSD2	RPL26	GTF2IRD1	SMC1A	LRP4	PTPN11
HP_BOWING_OF_THE_LEGS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BOWING_OF_THE_LEGS	CANT1	MLXIPL	DYNC2I1	PRKACB	DDRGK1	SOX9	COMP	NDN	SFRP4	TRPV4	PMP22	RBM8A	MCTP2	HBB	FGFR3	NKX3-2	SMOC1	GTF2I	KLHL41	COL1A1	BCOR	HSPG2	NCF1	MMP13	C12orf57	LIMK1	MATN3	EIF4H	RUNX2	TGFB1	COL2A1	IDUA	SATB2	XYLT1	LIFR	EXT1	GNPTG	COL11A2	FIBP	TPM2	DYNC2H1	UGP2	EXT2	RSPRY1	SGMS2	DDR2	EVC2	DMP1	ACAN	SHOX	GORAB	GLI1	COL1A2	CBS	ALPL	KAT6A	MMP9	VDR	IDH1	TMEM38B	SLC26A2	RMRP	ZNF699	BRAF	BPNT2	CHST3	COL9A2	ORC1	CLCN5	POLR1A	PUS3	CENPT	POR	LMOD3	IHH	COL10A1	EHHADH	SLC10A7	ZEB2	BCL7B	FBN1	SKI	B3GALT6	HPGD	OCRL	TONSL	WNT7A	SPTBN1	TUBB3	DYNC2LI1	FN1	CTC1	SLC34A3	GAN	MKRN3	COL9A3	CDC45	GUSB	NF1	FGF23	NEPRO	SETBP1	FLNA	CLCN7	EVC	CCN6	ATRX	RAB23	GLB1	CYP3A4	PLOD2	KIF7	METTL27	SLCO2A1	RNU4ATAC	TBL2	NPAP1	GDF5	NEB	IFT57	PWAR1	TRPV6	UFSP2	DYM	PRKACA	RPL13	ATP7A	ZPR1	MPZ	RTL1	ENPP1	LONP1	GALNS	FLNB	CYP27B1	FGFR2	ELN	VPS13B	MAP2K1	ACTA1	TMEM270	TENT5A	SNRPN	COL9A1	MAN2B1	RFC2	IARS2	P3H1	CYP2R1	TRIP11	B3GAT3	MEGF8	KIF22	RECQL4	FKBP6	ZBTB20	NDUFAF6	STX1A	RAB33B	SCARF2	PCYT1A	NSD1	BAZ1B	CSGALNACT1	MEG3	KRAS	PHEX	HS2ST1	NOTCH2	TCTN3	HS6ST1	EFL1	KDELR2	MAGEL2	BUD23	ANAPC1	DNAJC30	CRTAP	PRKG2	SLC34A1	P4HTM	BHLHA9	GTF2IRD2	COL11A1	MTX2	CLTCL1	VPS37D	HERC2	LOXL3	CFL2	SPART	PWRN1	COG5	MAP2K2	TFE3	EIF2AK3	SNORD115-1	IPO8	PEPD	CTNS	ARSB	PAPSS2	DLK1	IFIH1	CYP19A1	ORC6	PCNT	IFT172	CLIP2	NEK8	TRPS1	TNFSF11	SNORD116-1	GTF2IRD1	MTAP	ACP5	SERPINH1
HP_FEMORAL_BOWING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEMORAL_BOWING	DYNC2I1	COL10A1	POR	SLC34A3	ENPP1	CLCN5	SOX9	POLR1A	CYP27B1	FGFR2	RMRP	FGFR3	TENT5A	MAN2B1	WNT7A	DYM	P3H1	CYP2R1	RSPRY1	MMP13	NEPRO	LIFR	PHEX	FLNA	DYNC2H1	SCARF2	PCYT1A	COL11A1	SGMS2	PLOD2	COL1A1	DMP1	PRKG2	GORAB	RNU4ATAC	NEK8	GDF5	VDR	TRPV6	COL1A2	TMEM38B	BHLHA9
HP_ABNORMALITY_OF_THE_CALF	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CALF	PRKACB	DDRGK1	NDN	SFRP4	TRPV4	RBM8A	HBB	FGFR3	NKX3-2	GTF2I	KLHL41	LMBR1	BCOR	NCF1	HSPG2	MMP13	GABRA1	EIF4H	RUNX2	TGFB1	AMER1	IDUA	SATB2	INTU	LIFR	BMPR1B	SCN9A	GNPTG	COL11A2	FIBP	DYNC2H1	EXT2	RSPRY1	DDR2	EVC2	DMP1	SLC29A3	CHD7	GORAB	COL1A2	COL2A1	NEK1	SLC26A2	SEMA3E	CHST3	ADGRV1	CLCN5	PUS3	CENPT	LMOD3	COL10A1	RMRP	EHHADH	SLC10A7	ZEB2	BCL7B	GABRG2	SKI	SCN1A	HPGD	SCN2A	TONSL	WNT7A	SPTBN1	CHEK2	DYNC2LI1	DDX6	SLC34A3	MKRN3	SMOC1	COL9A3	FGF23	FLNA	NEPRO	FLNB	POR	CCN6	ATRX	CYP3A4	PLOD2	GABRD	METTL27	SLCO2A1	RNU4ATAC	NPAP1	RPL13	ATP7A	ZPR1	ENPP1	LONP1	GALNS	FGFR2	ELN	VPS13B	ACTA1	TENT5A	SNRPN	COL9A1	MAN2B1	RFC2	IARS2	INPPL1	MEGF8	PRR12	KIF22	FKBP6	COL9A2	NSD1	ATR	CSGALNACT1	PHEX	CYP2R1	HCN1	MAGEL2	BUD23	ANAPC1	DNAJC30	SLC34A1	EVC	COL11A1	PAPPA2	CLTCL1	SOX9	VPS37D	LOXL3	MATN3	CFL2	TAPT1	PTH1R	COG5	FN1	TFE3	EIF2AK3	SNORD115-1	PEPD	ARSB	DYM	PAPSS2	LMX1B	DLK1	GPX4	NF1	IFIH1	COL1A1	ORC6	IFT172	NEK8	TRPS1	MET	SNORD116-1	AFF4	ACP5	GDF5	SERPINH1	OCRL	CANT1	MLXIPL	DYNC2I1	DONSON	COMP	PMP22	MCTP2	EIF4A3	PCDH19	C12orf57	LIMK1	BGN	XYLT1	SHH	EXT1	TPM2	UGP2	SGMS2	TP53	CYP27A1	ACAN	SHOX	GLI1	CBS	ALPL	KAT6A	MMP9	VDR	IDH1	EN1	TMEM38B	TBXAS1	ZNF699	BRAF	BPNT2	ORC1	POLR1A	IHH	SF3B4	HYLS1	FBN1	NANS	B3GALT6	TUBB3	CTC1	GAN	CDC45	GUSB	PITX1	SETBP1	CLCN7	ALG12	RAB23	GLB1	KIF7	TBL2	NEB	IFT57	PWAR1	TRPV6	UFSP2	PRKACA	MPZ	RTL1	AFF3	SLC35D1	CYP27B1	MAP2K1	TMEM270	P3H1	AIFM1	RB1	GPC6	ZSWIM6	TRIP11	B3GAT3	BHLHA9	RECQL4	ACTB	ZBTB20	NDUFAF6	STX1A	RAB33B	SCARF2	PCYT1A	BAZ1B	MEG3	KRAS	HS2ST1	NOTCH2	TCTN3	HS6ST1	EFL1	KDELR2	CRTAP	PRKG2	P4HTM	IFT122	SCN1B	GTF2IRD2	TRAPPC2	MTX2	HERC2	SPART	TBX15	PWRN1	SLC35A2	MAP2K2	IPO8	CTNS	STX1B	CYP19A1	PCNT	CLIP2	TNFSF11	GTF2IRD1	MTAP	GLI3
HP_TIBIAL_BOWING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TIBIAL_BOWING	FLNB	RTL1	SLC34A3	ENPP1	CLCN5	SOX9	CLTCL1	CYP27B1	COL10A1	SMOC1	COL1A1	FGFR3	DYM	P3H1	CYP2R1	FN1	COL1A2	MMP13	SATB2	CHST3	COL2A1	SHOX	SETBP1	LIFR	PHEX	FLNA	COL11A2	FIBP	PCYT1A	DLK1	MEG3	DMP1	GORAB	PCNT	VDR	RMRP
HP_MICROMELIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROMELIA	TRIP11	LIFR	DONSON	HDAC8	SLC35D1	DDRGK1	CUL7	RAD21	CDKN1C	HHAT	HYLS1	DYNC2I1	TTC21B	NIPBL	DPYD	FGFR3	APC	HSPG2	IHH	GDF5	IFT172	IFT140	INPPL1	DYNC2I2	COL11A2	CEP120	PUF60	SLC26A2	ACTB	PAM16	BMPR1B	BRD4	DVL3	DYNC2H1	TRPV4	CSGALNACT1	COL2A1	PTH1R	DDR2	EVC2	SMO	LBR	ADAMTS2	GLI1	TCTN3	ALPL	RMRP	NBAS	KIF7	CILK1	CRTAP	SMC3	PCNT	FGFR2	PHGDH	ACAN	CD96	DYNC2LI1	FZD2	WNT5A	GLUL	KIAA0586	CCDC8	DHCR24	IDH1	FAM20C	GPC6	IFT43	POLE	SHOX	FLNB	ANTXR2	IFT81	B3GLCT	EVC	IFT80	COL11A1	OBSL1	MATN3	WDR19	RNU4ATAC	DHCR7	WNT7A	WDR35	PRKAR1A	DVL1	SMC1A	LRP4	SERPINH1	IDH2	PDE4D
HP_HYPOPLASIA_OF_THE_RADIUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_RADIUS	TRIP11	RFWD3	TBX3	CCNQ	DHODH	RECQL4	SHOX	SALL4	IHH	ESCO2	DONSON	FGFR2	FANCF	APC	NPR2	EIF4A3	FGF10	WNT7A	NIPBL	SLX4	RBM10	IFT81	ALG12	SF3B4	FGFR3	GDF5	ATR	FANCI	TBX5	RAD51C	RPS19	FANCB	RPL26	PRKAR1A	AFF4	MAFB	CHN1	LRP4	PDE4D
HP_RADIAL_BOWING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RADIAL_BOWING	FLNB	SHOX	TMEM67	FLNA	B2M	SLC26A2	TRPV4	B3GALT6	NPR2	PCNT	GDF5	WNT7A	P3H1	FGF23	COL11A1	PRKG2	IFT43	GLI3	HOXA11	MMP13
HP_ELBOW_FLEXION_CONTRACTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELBOW_FLEXION_CONTRACTURE	ERGIC1	MYH3	NALCN	COL12A1	PLOD1	LIFR	UNC80	TMEM43	CAPN3	PITX1	LMNA	DDR2	TPM2	COL6A2	SPRTN	FKBP10	LARGE1	FBN2	TOR1A	SELENON	TFAP2A	PSMB8	B3GAT3	PIK3C2A	SYT2	CPT2	SIK3	GJB2	EMD	MYLPF	SCARF2	PIGY	SLC26A2	ATR	EXOC6B	LAMA2	SLC29A3	TPM3	HS2ST1	SYNE2	ESCO2	FLNA	COL6A1	RNU4ATAC	COL6A3	SLC6A9	PSTPIP1	TRPV4	P4HTM	ACTA1	CHST3	ERLIN2	LGI4	ITGA7	PLOD3	FBN1	TBX15	CRLF1	DMD	FDFT1	SLC39A8	FHL1	KY	HACD1	WNT7A	ERCC6	KIF22	ECEL1	SYNE1	NIPBL	SLC25A46	TMEM222	LMX1B	ANO5	POR	JAG2	MAP3K7	MYL2	GNB2	MAP3K20	PYCR1	UBA1	PLOD2	PTDSS1	B3GALT6	SRD5A3	EXTL3	SNRPB	SVIL	ALDH18A1
HP_FIBULAR_APLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FIBULAR_APLASIA	FLNB	FLNA	LMBR1	BMPR1B	WNT7A	GDF5	TBX15	RBM8A	AMER1
HP_ABNORMALITY_OF_FIBULA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FIBULA_MORPHOLOGY	FLNB	CANT1	IFT122	AFF3	COL11A1	GPX4	PAPPA2	SLC34A3	MTX2	SLC35D1	DDRGK1	CLCN5	SOX9	SHOX	CYP27B1	IHH	RBM8A	SF3B4	TAPT1	SMOC1	NANS	LMBR1	EIF4A3	ATP7A	PTH1R	WNT7A	TBX15	FGFR3	GDF5	INPPL1	GPC6	BMPR1B	AMER1	FLNA	BGN	INTU	PHEX	SHH	EXT1	POR	COL11A2	DYNC2H1	FGFR2	ATR	EXT2	DDR2	CYP2R1	COL2A1	MET	VDR	AFF4	GLI3	BHLHA9
HP_ABNORMALITY_OF_TIBIA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_TIBIA_MORPHOLOGY	RTL1	GABRG2	DONSON	SCN1A	ENPP1	SOX9	FLNB	CYP27B1	HPGD	RBM8A	SHH	SMOC1	LMBR1	COL1A1	EIF4A3	PCDH19	FGFR3	DYM	GABRA1	P3H1	AIFM1	CYP2R1	GDF5	RB1	GPC6	TGFB1	ZSWIM6	MMP13	SATB2	BHLHA9	CHST3	INTU	PRR12	ACTB	LIFR	FLNA	BMPR1B	EXT1	SCN9A	COL11A2	FIBP	DYNC2H1	PCYT1A	EXT2	MEG3	TP53	CYP27A1	SEMA3E	DMP1	SLC29A3	SHOX	CHD7	GORAB	TCTN3	HCN1	CLCN5	COL2A1	VDR	RMRP	EN1	NEK1	TBXAS1	SLC26A2	ADGRV1	SCN1B	TRAPPC2	SLC34A3	NF1	CLTCL1	IHH	COL10A1	HYLS1	SCN2A	ATP7A	CHEK2	FN1	COL1A2	SLC35A2	DDX6	COL11A1	PITX1	SETBP1	PHEX	LMX1B	STX1B	POR	ALG12	DLK1	GABRD	PCNT	WNT7A	GLI3
HP_LIMITED_ELBOW_MOVEMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_ELBOW_MOVEMENT	ERGIC1	SMC3	MYH3	NALCN	COL12A1	PLOD1	LIFR	UNC80	COLEC10	ASXL1	TMEM43	COMP	CAPN3	SFRP4	SALL4	ESCO2	PITX1	COL2A1	LMNA	FLNB	STAG1	DDR2	TPM2	COL6A2	DYSF	SPRTN	FKBP10	PTH1R	LARGE1	FBN2	MATN3	TOR1A	GPC6	SELENON	TFAP2A	FGFR3	PSMB8	MMP13	B3GAT3	PIK3C2A	SYT2	CPT2	SIK3	CHST3	BGN	GJB2	EMD	FZD2	MYLPF	SCARF2	PIGY	COLEC11	SLC26A2	ATR	OPA3	RSPRY1	CSGALNACT1	EXOC6B	LMX1B	KCNK9	LAMA2	SLC29A3	SHOX	TPM3	HS2ST1	SYNE2	FGFR2	FLNA	COL6A1	RNU4ATAC	MECOM	COL6A3	RMRP	SLC6A9	PSTPIP1	TRPV4	HOXA11	COL9A3	P4HTM	ACTA1	ERLIN2	LGI4	ITGA7	PTPN11	CLCF1	TRAPPC2	RECQL4	PLOD3	FBN1	FHL1	TBX15	CRLF1	DMD	FDFT1	PPP2R3C	SLC39A8	NPR2	BANF1	KY	HACD1	SMC1A	MASP1	TONSL	WNT7A	HRAS	ERCC6	KIF22	TFE3	MYOT	ECEL1	SYNE1	NIPBL	EZH2	SLC25A46	TMEM222	ANO5	POR	JAG2	MAP3K7	SF3B4	STXBP1	HDAC8	MED12	IFITM5	MYL2	GNB2	TBX5	B3GLCT	MAP3K20	PYCR1	UBA1	PLOD2	PTDSS1	B3GALT6	PCNT	ITCH	SRD5A3	MAPK1	EXTL3	SNRPB	DYM	SVIL	ALDH18A1	ATP7A
HP_ABNORMALITY_OF_THE_ULNA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ULNA	MLXIPL	EXOC6B	COLEC10	HDAC8	RAD21	VPS35L	RAD51	RIPK4	XYLT1	SALL4	RRAS	ESCO2	MMP9	DONSON	RBM8A	AGA	RIT1	GTF2I	LMBR1	FANCC	BCOR	APC	NCF1	RAF1	CHSY1	CTBP1	PIEZO2	LIMK1	EIF4H	FGFR2	TGFB1	FANCF	MMP13	TBX22	ERCC4	BGN	FANCD2	EXT1	TBX3	CANT1	DYNC2H1	TWIST1	EXT2	FGF10	SHOX	CHD7	COLEC11	FANCL	SNRPN	LRP4	HOXA11	SMC3	BRAF	SEMA3E	CHST3	DHODH	B4GALT7	RECQL4	PALB2	POR	IHH	MRAS	MAD2L2	SF3B4	FANCA	BCL7B	FANCG	WNT7A	SOS1	COL11A1	BMPR1B	IFT43	FLNB	SETBP1	FGFR3	PITX1	JAG1	OBSL1	NRAS	SOS2	METTL27	COL2A1	TBL2	GDF5	NSD2	RPL26	FANCB	COMP	MASP1	MAGEL2	FANCI	SMC1A	PDE4D	NDN	RASA2	MAF	FANCM	COL10A1	B3GALT6	CPLX1	FGFRL1	CUL7	KAT6B	MECOM	NIPBL	ELN	MAP2K1	TMEM270	BRIP1	RAB3GAP2	RFC2	KRAS	B3GAT3	BHLHA9	SLX4	BICRA	FKBP6	SPRED2	FLNA	BRD4	STX1A	SCARF2	MACROH2A1	SLC26A2	BAZ1B	RRAS2	BUD23	ANAPC1	REV3L	RAD51C	FANCE	DNAJC30	PRKG2	LZTR1	GTF2IRD2	VPS37D	UBE2T	LETM1	CCDC8	PIGT	MAP2K2	B2M	RFWD3	TBX5	BRCA2	XRCC2	PLXND1	PCNT	CLIP2	CBL	PRKAR1A	GTF2IRD1	BRCA1	PTPN11
HP_PATELLAR_DISLOCATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATELLAR_DISLOCATION	PKDCC	PLOD1	MLXIPL	GTF2IRD2	COMT	EXOC6B	NEDD4L	PRKACB	HIRA	XYLT1	VPS37D	RBM8A	KAT6B	EP300	ELN	RNU4ATAC	BCL7B	TMEM270	GTF2I	LMX1B	TBX1	NCF1	ARFGEF2	TBX4	FLNA	EBP	RFC2	OCRL	LIMK1	FBN2	TMTC3	EIF4H	RYR1	COL5A1	COL1A1	FKBP6	CREBBP	STX1A	CANT1	GDF5	STXBP1	ERMARD	BAZ1B	MAP1B	FZD2	ARVCF	SEC24C	RREB1	METTL27	CHST11	TBL2	CLIP2	NOTCH2	GP1BB	BUD23	UFD1	GTF2IRD1	ARF1	COL5A2	DNAJC30	FLNB	BPNT2	JMJD1C
HP_GLOMUS_JUGULAR_TUMOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLOMUS_JUGULAR_TUMOR	SDHC	SDHD	SDHAF2	SDHB	NF1
HP_BREAST_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BREAST_CARCINOMA	SEC23B	ERBB2	STK11	NQO2	RNF43	RAD51C	AKT1	BRCA2	POLE	POLD1	GNAS	SLC6A17	CDH1	TP53	KRAS	RABL3	BRCA1	RAD51D	CHEK2	ATM	NBN	RB1CC1	IDH1	APC	BRIP1	COL14A1	MSH6	CDKN2A	ATR	PTEN	TWIST1	CTNNB1	PIK3CA	XRCC3	WRN	SLC22A18	KLLN	ESR1	AAGAB	PALB2	BARD1	PPM1D	PRKN	PHB1	MLH1	RAD51	SDHD	MSH2	SMAD4	SDHC	RAD54L	NTHL1	MRE11	NF1	CASP8	PALLD	OPCML	RAD50	MEFV	IDH2	HMMR	SDHB	MDM2	FGFR2	AXIN2	USF3
HP_COLON_CANCER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COLON_CANCER	PALB2	SH3KBP1	APC	MLH1	FLCN	MSH2	MSH6	SMAD4	BUB1B	SMAD7	MLH3	FOXE1	BRCA2	PMS2	NTHL1	TGFBR2	RABL3	BMPR1A	AXIN2	BUB1	HABP2	FAN1	TP53	CDKN2A	KRAS	TRIP13	PMS1	PALLD	EPCAM	MUTYH	MINPP1	CHEK2	RPS19	BRCA1	MDM2	BUB3	PIK3CA	CEP57	MSH3	GREM1
HP_GANGLIONEUROMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GANGLIONEUROMA	GDNF	PHOX2B	RET	MYO1H	KIF1B	BDNF	ASCL1	EDN3
HP_PROLONGED_BLEEDING_TIME	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLONGED_BLEEDING_TIME	CALR	VWF	WAS	RASGRP2	MPL	MYH9	ITGB3	PLEC	SH2B3	HPS1	SLC35A1	GP6	ADAMTS2	CD36	GP9	TP53	ITGA2B	GFI1B	COL5A1	HPS5	COL1A1	NBEAL2	MAP2K2	NF1	ITGB4	JAK2	RUNX1	BMS1	F5	DLL4	TET2	GP1BA	AP3B1	ADAMTSL2	GP1BB	WIPF1	F2	GATA1	AGGF1	TEK	RIN2	COL5A2	GATA2	HPS6
HP_FLARED_METAPHYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLARED_METAPHYSIS	COL10A1	DDRGK1	EED	B4GALT7	COMP	COL2A1	TAPT1	TCIRG1	NANS	COG4	B3GALT6	NPR2	FGFR3	XYLT1	FAM111A	OSTM1	COL11A2	GJA1	SLC39A13	MMP13	B3GAT3	PTH1R	VAC14	EZH2	KIF22	LIFR	PEX7	TONSL	ERCC1	CYP3A4	RUNX2	EXOC6B	TRPV4	DDR2	ALG9	PTDSS1	PCNT	SH3PXD2B	RMRP	PCYT1A	LBR	PRKG2	FIG4	FLNA	CHST3
HP_METAPHYSEAL_WIDENING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METAPHYSEAL_WIDENING	CANT1	EFL1	LIFR	COL10A1	B3GALT6	SLC35D1	DDRGK1	EED	COMP	SFRP4	GALNS	ATP7A	PITX1	COL2A1	TCIRG1	FGFR3	XYLT1	FAM111A	ACP5	DYM	ANKH	AIFM1	OSTM1	INPPL1	GNPTAB	COL11A2	TRIP11	MMP13	B3GAT3	VAC14	KIF22	MMP2	PEX7	BMPR1B	EXT1	DYNC2H1	PCYT1A	PLCB3	SLC26A2	SRP54	EXT2	RUNX2	CSF1R	EXOC6B	PTH1R	LRP5	DDR2	HSPG2	ARCN1	TRPV4	PHEX	ABCC9	WDR19	MMP9	RMRP	VPS33A	LBR	IDH1	PRKG2	CHST3	COL11A1	B4GALT7	SBDS	TAPT1	NANS	COG4	SKI	NPR2	CCN6	DNAJC21	ALG9	ACAN	GJA1	SLC39A13	FLNA	CTNS	EZH2	NSMCE2	ARSB	MAP3K7	TONSL	ERCC1	GLB1	CYP3A4	MATN3	PTDSS1	PCNT	SH3PXD2B	ACVR1	FIG4
HP_ABNORMALITY_OF_THE_WRIST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_WRIST	CANT1	EXOC6B	MECP2	FLNB	COMP	CAPN3	SALL4	PITX1	RAC3	GPC3	ESCO2	NOG	ASAH1	LMBR1	APC	ABCC6	PAX3	HSPG2	AIFM1	ROR2	FBN2	GDF5	GNPTAB	ALDH18A1	GPC4	BGN	XYLT1	MMP2	ALG12	BMPR1B	EXT1	PTPN22	TBX3	MYLPF	ZMPSTE24	OPA3	EXT2	RSPRY1	NALCN	COL2A1	MAFB	DDR2	EVC2	DMP1	COLQ	SHOX	GLI1	VDR	COL6A2	RMRP	LMNA	IDH1	TNNI2	HOXD13	FGFR3	LAMB2	CLCN5	ERLIN2	RECQL4	POR	IHH	KIDINS220	SLC10A7	NANS	B3GALT6	TONSL	WNT7A	CD247	DYNC2LI1	CHSY1	SMOC1	GDAP1	NIN	FLNA	ANO5	SLC34A2	EVC	CCN6	PIGV	MYH3	GLB1	LEMD3	NXN	GNE	MAP3K7	UFSP2	AKT1	DYM	SHH	PRG4	ATP7A	ERGIC1	RTL1	COL12A1	TPM2	MBTPS1	ASXL1	ENPP1	LONP1	CADM3	EXTL3	GALNS	CYP27B1	BPTF	CYP2R1	TRIP11	PTPN2	CHST3	KIF22	XRCC2	SETD2	MYH7	MACROH2A1	MEG3	PTH1R	TRPV4	EBP	NOTCH2	FGFR2	COL6A3	TNNT3	TRAPPC2	SLC34A3	MATN3	DLK1	HOXA13	SLC35D1	GJA1	TBX15	ANKRD55	IL2RA	PTEN	EIF2AK3	PIEZO2	PSMD12	BHLHA9	TUBB3	COL6A1	STAT4	MMP14	TBX5	IL2RB	COL7A1	FBLN1	RBM8A	AEBP1	LRP4	DHX16	ADAMTSL2	OCRL
HP_ENLARGEMENT_OF_THE_WRISTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGEMENT_OF_THE_WRISTS	CYP2R1	DMP1	CYP27B1	AIFM1	CLCN5	SLC34A3	ENPP1	VDR
HP_METAPHYSEAL_CUPPING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METAPHYSEAL_CUPPING	HDAC6	NEPRO	PEX5	COL10A1	PAM16	GPX4	ALPL	COL11A2	PCYT1A	AIFM1	LBR	IDH1	COL2A1	INPPL1	PTH1R	CYP3A4	RMRP	TRIP11	MMP13
HP_METAPHYSEAL_IRREGULARITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METAPHYSEAL_IRREGULARITY	EFL1	COL10A1	EXOC6B	GPX4	SLC34A3	DDRGK1	CLCN5	SBDS	COMP	LPIN2	CYP27B1	MATN3	IARS2	NKX3-2	KIAA0586	NANS	SLC35D1	FGFR3	TONSL	PTH1R	ACP5	DNAJC21	CYP2R1	FN1	KIF22	COL2A1	QRICH1	SRP54	CFAP410	SIK3	BGN	SLC17A5	ARSB	PEX5	DYM	PHEX	RAB33B	PCYT1A	MMP13	CSPP1	RSPRY1	MMP9	VDR	CASR	TRPV4	IDH1	PRKG2	RMRP	RPL13
HP_SHORT_LONG_BONE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_LONG_BONE	CANT1	SMAD4	SUFU	DYNC2I1	EXOC6B	SRY	DONSON	HDAC8	LZTFL1	VPS35L	FLNB	SOX9	COMP	RAD51	RIPK4	SALL4	ESCO2	FGFR3	FIG4	SMOC1	LMBR1	FANCC	APC	HSPG2	EIF4A3	XYLT1	SUCLG1	GLB1	HDAC4	PRKAR1A	GNPTAB	COL11A2	COL2A1	AMER1	FANCF	ERCC4	PUF60	SLX4	BGN	INTU	FANCD2	GNAS	ALG12	RBM10	PEX5	LIFR	SHH	BMPR1B	EXT1	RBPJ	FZD2	DYNC2H1	PRMT7	FANCI	FANCB	ZIC3	EXT2	RAD51C	RSPRY1	NOG	FGF10	PEX7	DDR2	KNSTRN	AGPS	SHOX	CHD7	SCUBE3	NADSYN1	TRPS1	FANCL	FGFR2	PTCH2	NEK1	SLC26A2	RMRP	LRP4	DYNC2I2	SMC3	BPNT2	COL9A3	SEMA3E	TBX3	DHODH	GPX4	PHYH	RECQL4	PALB2	INPPL1	TBX15	IHH	GNPAT	MAD2L2	SF3B4	SLC10A7	COG1	BMP2	FANCA	HYLS1	COG4	B3GALT6	NPR2	FANCG	WNT7A	PIGS	CHSY1	POLR3A	SLC39A13	PTH1R	GDF5	NIPBL	CD96	NEPRO	HOXD13	SETBP1	IFT81	FLNA	PDE3A	ZNF407	MAP3K7	POR	PDE4D	TONSL	GSC	JAG1	OBSL1	GNAS-AS1	MATN3	PORCN	NHS	RNU4ATAC	IFT52	RPL26	RPS6KA3	FGFR1	FAT4	SNRPB	MAFB	DYM	CHN1	SMC1A	RPL13	ATP7A	TRIP11	RTL1	RFWD3	FANCM	AFF3	CCNQ	COL10A1	DCHS1	FBXL3	SLC35D1	CUL7	PIK3CD	LONP1	RAD21	HHAT	DDRGK1	GLI3	VPS13B	FERMT1	BRIP1	PTHLH	RAB3GAP2	DYNC2LI1	P3H1	LBR	GPC6	LTBP3	CHST3	PAM16	BRD4	RAB33B	SCARF2	PCYT1A	PLCB3	ATR	SRCAP	RUNX2	MEG3	RPS19	IFT80	DNMT3A	FBN1	TRPV4	ANAPC1	EVC2	HINT1	FANCE	PRKG2	ROR2	BHLHA9	EVC	IFT122	COL11A1	SIL1	TWIST2	SMARCA2	POC1A	TCTN3	UBE2T	TAPT1	PTCH1	SALL1	HOXA13	HEPHL1	TBX4	TCF4	CCDC8	PIGT	FN1	ALG9	SLC35A2	EZH2	B2M	DLK1	MYSM1	GHR	TBX5	B3GLCT	BRCA2	XRCC2	TTC21B	PCNT	IFT172	WDR35	EXTL3	MET	KIAA0753	SH3PXD2B	AFF4	BRCA1	ACVR1	SVBP	STX16	CWC27	AMMECR1	ADAMTSL2	KCNJ2
HP_MESOMELIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MESOMELIA	AFF3	DHCR7	ROR2	SHOX	WDR35	GLI3	TBX15	ESCO2	DONSON	DVL1	NPR2	EIF4A3	RAC1	CTSK	FGFR3	TONSL	NGLY1	ACAN	GPC6	TRIP11	KIF15	PTH1R	SIK3	DVL3	GDF5	FLNA	CREB3L1	NXN	IFT80	NEK1	WNT5A	LBR	RMRP	PRKG2
HP_ABNORMALITY_OF_THE_ANKLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ANKLES	ERGIC1	KIF1A	APC2	COL12A1	MLXIPL	SPG11	SELENOI	RPL10	SCN1A	DAG1	PI4KA	RTTN	COMP	STUB1	CAPN3	HTT	CYP27B1	COL6A1	FA2H	ELN	DDR2	ZFYVE27	TMEM270	GTF2I	SAMD9L	COL6A2	NCF1	RAB3GAP2	CYP7B1	COL9A1	TIMM8A	BPTF	RFC2	GJC2	FKBP10	SPTBN4	CYP2R1	LIMK1	PSAP	NEB	EIF4H	IL2RB	KIF5A	SYT2	PTPN2	TPM2	FGF13	OCA2	MMP2	FKBP6	LIFR	VCP	KLHL9	EXT1	STX1A	SLC16A2	PTPN22	RAB18	MYH7	ZMPSTE24	ATL1	EXT2	NT5C2	BAZ1B	UBE3A	RETREG1	MAFB	SOD1	MAN2B1	TPM3	HCN1	CLCN5	ESCO2	FLNA	BUD23	ANO10	VDR	COL6A3	SYNE1	LMNA	NTRK1	IDH1	DNAJC30	GBA2	NSD1	SCN9A	CAPN1	ERLIN2	ADGRV1	COL9A2	LGI4	CHMP1A	SCN1B	NONO	SELENON	FLT4	ITGA7	GTF2IRD2	WNK1	SLC34A3	RYR1	C19orf12	VPS37D	SETD2	NOG	CD247	COL10A1	GFM2	ALAD	SPART	STAT4	BCL7B	GABRG2	UCHL1	GALC	HACD1	ANKRD55	PIGT	IL2RA	NIPA1	SPAST	RTN2	COL9A3	TOR1AIP1	FIG4	SLC39A14	ANO5	STX1B	ABCD1	DPM1	GDF5	PSAT1	MAP3K7	PSMD12	REEP1	CARS1	MYL2	SCN2A	MFN2	MAP3K20	UBA1	GABRD	PNPT1	POU3F4	METTL27	ATP6AP2	TBL2	CLIP2	ADGRG1	ACTA1	GTF2IRD1	SLC52A3	DYRK1A	DYM	SVIL	GLI3	PYCR2
HP_ENLARGEMENT_OF_THE_ANKLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGEMENT_OF_THE_ANKLES	CYP2R1	MYH7	CYP27B1	IDH1	CLCN5	SLC34A3	VDR
HP_ULNAR_BOWING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ULNAR_BOWING	CHST3	SHOX	PCNT	POR	FLNA	VPS35L	SCARF2	RECQL4	SLC26A2	RIPK4	COL11A1	FGFR2	PRKG2	IFT43	HOXA11	MMP13
HP_DIAPHYSEAL_SCLEROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIAPHYSEAL_SCLEROSIS	MTAP	GNAS	TGFB1	SOST	STX16	TNFSF11	ANO5	CA2
HP_ENLARGED_JOINTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_JOINTS	MATN3	COL2A1	HOXD13	LIFR	KAT6A	COL11A2	CCN6	CHST3	SRCAP	TRPV4	KIF7
HP_FIBULAR_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FIBULAR_HYPOPLASIA	IFT122	INTU	AFF3	COL11A1	FLNA	BMPR1B	SLC35D1	SOX9	DYNC2H1	GDF5	ATR	SHOX	SF3B4	SMOC1	EIF4A3	PTH1R	MET	AFF4	INPPL1	GPC6	AMER1	BHLHA9
HP_ARTHROPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTHROPATHY	SPTLC1	CHST3	SPTLC2	NTRK1	SAMHD1	ATL3	NLRP1	PTPN22	COL2A1	HPGD	HFE	BMP2	TNFAIP3	ATL1	CD244	ENPP1	CCN6	ALPL	TRPV4	MMP14	HJV	NOD2	SLC22A4	IL10	ELP1	IL6ST	DMP1	PIK3CD	NFKBIL1	STAT3	CIITA	TNFRSF1A	HAMP	NLRP3	HGD	IL36RN	MEFV	MMP2	PRG4	COL11A1	F8	ANKH
HP_HUMERORADIAL_SYNOSTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HUMERORADIAL_SYNOSTOSIS	FGF9	CYP26B1	PTDSS1	POR	DONSON	WNT7A	FGFR2	FGFR1	TBX15	NOG	GDF5
HP_ABNORMAL_SHOULDER_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SHOULDER_MORPHOLOGY	MYH3	RTL1	MLXIPL	SUFU	NTNG2	SRCAP	NEDD4L	ZMIZ1	TRMT1	LMNA	SATB1	KDM4B	TMEM251	ELN	FIG4	TMEM270	GTF2I	ABCC6	NCF1	SLC12A2	HSPG2	PSMD12	SPRTN	MED13	EYA1	RFC2	DOCK3	NGLY1	DYM	LIMK1	PAX1	MED27	EIF4H	CLCN3	HTT	UBR7	RUNX2	KMT2E	B3GAT3	PTPN2	CHST3	TRPV4	COL1A1	FKBP6	STX1A	PTPN22	IRX5	GRIA4	MYLPF	SCARF2	ERMARD	HPDL	BAZ1B	MEG3	GDF3	GDF6	EFNB1	ACTL6B	CHD7	TNRC6B	COL1A2	BUD23	MYT1L	EMC10	BCOR	LMBRD2	COL5A2	CUL4B	DPYSL5	DNAJC30	PTCH2	ENPP1	TCF7L2	TANC2	SEMA3E	PUS7	ORC1	PTPN23	LGI4	TRIP12	GTF2IRD2	TRAPPC2	SVBP	DDX6	SYNCRIP	BCAS3	AEBP1	VPS37D	PPP1R15B	MEOX1	MADD	MAPK8IP3	KCNMA1	PTCH1	PALS1	BCL7B	AGO2	LMX1B	ARFGEF2	KY	FLNA	ATP7A	TRMT10A	HHAT	CD247	ANKRD55	NAA10	TMTC3	IL2RA	FBXW11	WDFY3	RNF2	WASF1	ACTL6A	BPTF	COL5A1	NTNG1	TCF20	TNNT1	SPTBN1	JAG2	CCN6	CNOT3	GSC	DLK1	GNB2	TBX5	STAT4	HUWE1	MAP1B	BCORL1	COL12A1	IL2RB	RLIM	METTL27	RNU4ATAC	PRNP	KAT8	TBL2	CLIP2	SETD1A	PIEZO2	TRAPPC4	GTF2IRD1	ARF1	RBM8A	CCDC32	OTUD6B	JARID2	HS2ST1	ANKRD17
HP_SHOULDER_FLEXION_CONTRACTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHOULDER_FLEXION_CONTRACTURE	MYH3	TNNT1	RNU4ATAC	HSPG2	KY	JAG2	COL12A1	MYLPF
HP_ABNORMAL_PATELLA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PATELLA_MORPHOLOGY	PKDCC	ORC1	PLOD1	MLXIPL	COMT	EXOC6B	NEDD4L	PRKACB	ORC4	CDC6	KAT6B	XYLT1	ESCO2	DONSON	RBM8A	ELN	TMEM270	GTF2I	TBX1	GMNN	NCF1	COL9A1	LMBR1	EBP	RECQL4	RFC2	LIMK1	FBN2	YY1	EIF4H	NLRP3	ZSWIM6	KIF22	COL1A1	COL2A1	FKBP6	CREBBP	STX1A	CANT1	PRMT7	ERMARD	SLC26A2	CHRNG	BAZ1B	RAB23	LMX1B	ARVCF	CHST11	MIR140	USP9X	GDF5	NOTCH2	BUD23	ANAPC1	UFD1	COL5A2	DNAJC30	FLNB	TBX4	BPNT2	JMJD1C	BHLHA9	COL9A2	GTF2IRD2	CDT1	HIRA	FKBP10	VPS37D	EP300	RNU4ATAC	BCL7B	ARFGEF2	FLNA	OCRL	TMTC3	RYR1	UBR7	COL9A3	CDC45	PITX1	TBC1D7	COL5A1	SHOX	GJB2	STXBP1	ARID1B	MAP1B	COL12A1	ORC6	FZD2	SEC24C	RREB1	METTL27	TBL2	CLIP2	GP1BB	GTF2IRD1	ARF1	GJB6	WNT7A
HP_RADIAL_HEAD_SUBLUXATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RADIAL_HEAD_SUBLUXATION	CHD7	KIF22	B3GALT6	XYLT1	GLI3	SEMA3E
HP_ULNAR_DEVIATION_OF_THE_WRIST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ULNAR_DEVIATION_OF_THE_WRIST	RTL1	ALG12	PAX3	TPM2	POR	ASXL1	DLK1	TNNI2	MYH3	COMP	GALNS	TNNT3	GLB1	ASAH1	RAC3	MEG3	NALCN	FLNB	KIDINS220
HP_ENLARGED_METAPHYSES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_METAPHYSES	COL2A1	RNU4ATAC	TRAPPC2	EXTL3	RPL13	B3GAT3	CHST3
HP_ABNORMALITY_OF_THE_RADIOULNAR_JOINTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_RADIOULNAR_JOINTS	CANT1	TRPV4	B3GALT6	AEBP1	POR	EXOC6B
HP_ABNORMALITY_OF_THE_HUMERUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_HUMERUS	FLNB	RSPO2	FGF9	IFT122	TBX3	POR	DONSON	LONP1	RECQL4	GNAS	TBX15	IHH	GNPAT	FGFR2	RBM8A	TMEM251	CYP26B1	LMBR1	ATP7A	B3GALT6	NOG	WNT7A	DYM	SUCLG1	GPC6	GNPTAB	TGFB1	POLR3A	GDF5	EZH2	SHOX	PEX5	SLC26A2	ALG12	FZD2	TONSL	GSC	MYSM1	MACROH2A1	TBX5	PITX1	SRCAP	FANCB	ZIC3	SALL4	TRPV4	AGPS	PTDSS1	RNU4ATAC	STX16	KIAA0753	COL2A1	FGFR1	SNRPB	PRKG2	FLNA
HP_PATELLAR_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATELLAR_HYPOPLASIA	LMX1B	RECQL4	TBX4	GJB2	STXBP1	ANAPC1	PRMT7	GJB6	ZSWIM6	UBR7	PITX1
HP_LIMITED_KNEE_EXTENSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_KNEE_EXTENSION	ADGRV1	EZH2	GABRG2	SCN1A	SCN1B	HCN1	SCN2A	SCN9A	STX1B	PCDH19	GABRA1	FBN2	DPYSL5	GPC6	DYM	CSGALNACT1	GABRD	ATP7A	COL9A3
HP_ELBOW_ANKYLOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELBOW_ANKYLOSIS	MUSK	GDF5	FGFR1	FGFR2	PTDSS1	POR	NOG	WNT7A
HP_FLATTENED_EPIPHYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLATTENED_EPIPHYSIS	CANT1	SLC26A2	CHST3	IFT122	KIF22	GNPTG	RAB33B	CCN6	TONSL	UFSP2	MMP13	COL2A1	SLC10A7	SLC39A13	COL9A2	TRPV4	ACAN	TRPS1	TBX4	MIR140	COL9A1	PTH1R	AIFM1	EIF2AK3
HP_HYPERCALCEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERCALCEMIA	NF1	APC2	CDC73	MLXIPL	GTF2IRD2	SLC5A1	VHL	MEN1	RET	GNA11	PDGFRB	SDHD	CDKN2B	SLC12A1	CCND1	VPS37D	SETD2	CDKN1C	GCM2	CASR	ELN	BCL7B	TMEM270	GTF2I	SDHAF2	NCF1	SDHB	AP2S1	SLC25A11	RFC2	MAX	BTNL2	LDHA	LIMK1	FH	EIF4H	PIK3C2A	CDKN1A	TRIO	MDH2	CYP24A1	FKBP6	STX1A	KIF1B	KL	DNMT3A	SDHA	CDKN1B	PTH1R	BAZ1B	DLST	TMEM127	SDHC	NOTCH3	METTL27	CDKN2C	EPAS1	TBL2	CLIP2	ALPL	BUD23	GTF2IRD1	HLA-DRB1	DNAJC30	SLC34A1	NSD1	PIGT
HP_HYPOALBUMINEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOALBUMINEMIA	TDP1	IFNGR1	NPHS1	GAPVD1	TNPO3	FN1	MYO1E	SLC25A13	TBC1D8B	ARHGDIA	CD2AP	PIK3R5	MPI	NUP133	SAR1B	BMPR1A	MICOS13	FARSB	SEMA4D	EMP2	KRT5	CD55	PET100	VPS33A	MAGI2	TCF4	MMEL1	NUP93	NLRC4	ALG1	NUP85	TTC26	ALG12	PLCE1	WT1	ALB	ACTN4	PAX2	PTPRO	DGUOK	IRF5	SPIB	ALG8	PTEN	AHCY	NUP107	EIF2AK3	IL12A	FARSA	DGAT1	KRT14	COL4A3	PRF1	PMM2	CCBE1	ALG6	FOXP3	ITGA3	RNU7-1	SYK	STX11	NPHS2	COQ8B	SLCO2A1	IL12RB1	TFAM	PLVAP	SGPL1	GPR35	WDR4	APTX	WDR73	APOL1	MST1	TKFC	OSGEP	TNFSF15	NUP37	STXBP2	NUP205	SMAD4	COL7A1	MTTP	TTC37	UNC13D	B2M	COQ2	ARHGAP24	CRB2	TRPC6	ANLN	ANKFY1	SETX	INF2	PDSS2	POU2AF1	NUP160
HP_HYPERGLYCEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERGLYCEMIA	ABCC8	LRPPRC	GABRA3	RFX6	HYMAI	KLF11	INSR	GLI3	PDX1	NEUROD1	GATA6	STAT3	PTPN22	INS	GCK	PPARG	SLC2A2	KCNJ11	KCNJ18	LMNA	ARMC5	HNF4A	PAX4	CACNA1S	ACAT1	PTF1A	ZMPSTE24	ITPR3	HFE	GYS2	BLK	HNF1A	APPL1	BBS9	SCN4A	PIK3R1	KCNE3	IL6	ZFP57	AFF4	SHPK	RIMS2	CEL	PLAGL1
HP_HYPOPROTEINEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPROTEINEMIA	TMPRSS15	RAG1	ALB	SLC25A13	LYST	LAMB2	NOS1AP	B2M	PRF1	CD55	ACADVL	DPAGT1	DCLRE1C	NPHS1	UBR1	RAG2
HP_GLYCOSURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLYCOSURIA	ABCC8	KLF11	SLC5A1	SLC34A1	PDX1	NEUROD1	GATA6	SLC5A2	STAT3	ETFDH	GATM	INS	EHHADH	CTNS	SLC2A2	KCNJ11	LMNA	COA8	SURF1	HNF4A	PAX4	NSMCE2	FAN1	GYS2	NDUFAF6	GCK	ALDOB	BLK	APPL1	HNF1A	ATP7B	ETFB	HNF1B	CLCN5	ETFA	SLC16A12	CEL	PIGA	MT-TN
HP_HYPERLIPIDEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERLIPIDEMIA	CREB3L3	ALMS1	MYO5A	SLC25A13	GPD1	TMEM43	TTPA	LMF1	NPHS1	SMPD1	GK	LEPR	LMNA	G6PC1	STXBP2	CAVIN1	CFHR1	XIAP	APOC2	HAVCR2	PDE8B	TFG	SLC37A4	SMARCAL1	DCAF17	NSMCE2	PSMB10	ABCA1	PSMB8	APOB	ZMPSTE24	CAV1	LCAT	PNPLA2	LDLRAP1	PLIN1	PSMB9	GYS2	LIPC	MC4R	RAB27A	ACTN4	XRCC4	CPT1A	RAI1	FARSA	PYGL	PHKB	DGAT1	MCFD2	LRP6	ALB	ABHD5	SYNE2	PPARG	LPL	EMD	DEF6	PRF1	MCM10	LMAN1	BSCL2	PHKG2	ABCG5	CFHR3	PIGT	APOC3	STX11	ABCG8	PRKAR1A	PDE11A	FLII	FOS	MTX2	PIGH	PLVAP	LIPE	SGPL1	AGL	DEAF1	LDLR	LEP	LIPA	CYP7A1	AGPAT2	SLC2A2	FHL1	LYST	UNC13D	NPHS2	PHKA2	POLR3A	PSMB4	SLC29A3	SYNE1	ADCY3	PRKACA	POLD1	FECH	ARMC5	PCSK9	JAG1	YARS1	APOA5	CYP19A1	CETP	CIDEC	GNAS	CEP19	IQSEC2	SLC7A7	GLA	CPT2	RSPO1	CELA2A	AEBP1	CFH	APOE	AKT2
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	MPLKIP	GTF2E2	ERCC4	ERCC2	GTF2H5	TARS1	XPC	ERCC5	ERCC6	DDB2	XPA	ERCC3	RNF113A
HP_HYDROXYPROLINURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYDROXYPROLINURIA	ALDH4A1	PRODH	SLC6A18	SLC6A20	SLC36A2	SLC6A19	TNFRSF11B	TNFRSF11A	PLOD2
HP_INCREASED_URINARY_POTASSIUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_URINARY_POTASSIUM	CLCNKB	SLC34A1	NDUFAF6	CLCNKA	KCNJ1	BSND	SLC12A1	EHHADH	GATM
HP_FRACTURES_OF_THE_LONG_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRACTURES_OF_THE_LONG_BONES	SQSTM1	MTAP	CLCN7	TNFRSF11A	TBCD	TAPT1
HP_ACROMESOMELIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACROMESOMELIA	GDF5	NPR2	RAC1	KIF15	NGLY1
HP_PREMATURE_OSTEOARTHRITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_OSTEOARTHRITIS	SLC26A2	TRPV4	COL11A2	KIF22	DDRGK1	COL1A1	MATN3	TRAPPC2	FBN1
HP_HAMSTRING_CONTRACTURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAMSTRING_CONTRACTURES	CAPN3	SELENON	ANO5	ABCD1	OPA1	ACTA1
HP_LIMITED_HIP_EXTENSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_HIP_EXTENSION	COMP	CHST3	DST	KY	FGFR3
HP_SEPTIC_ARTHRITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEPTIC_ARTHRITIS	NTRK1	BTK	C2orf69	MTHFD1	MYD88
HP_SHORT_FEMUR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_FEMUR	FLNB	PUF60	RNU4ATAC	TBX4	COL2A1	ALG12	GDF5	SUCLG1	SALL4	TBX15	IHH	COL11A1	SLC26A2	POLR3A	AMMECR1	TAPT1	AGPS	BHLHA9	FGFR3
HP_SLENDER_LONG_BONE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLENDER_LONG_BONE	MAFB	ORC1	B3GALT6	ORC4	CDC6	CUL7	CDT1	CCDC8	MGAT2	NFIX	FDFT1	GMNN	RAB3GAP2	LARP7	FAM111A	P3H1	ATP6V0A2	PIGU	VAC14	NSMCE2	BRF1	SCARF2	ERCC1	PDGFRB	RSPRY1	HARS1	OBSL1	ORC6	SON	MUSK	PCNT	ITCH	COL1A2	GLE1	CDC45	FIG4	TBCE	KCNJ2	PIGT	COL1A1
HP_ABNORMAL_CORTICAL_BONE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CORTICAL_BONE_MORPHOLOGY	FAM111A	LIFR	PLEKHM1	WNK1	SLC34A3	ENPP1	CLCN5	PYCR2	CEP152	CLCN7	LRP4	LRP5	METTL5	ADAMTS10	CYP27B1	SCN9A	HPGD	ASPM	AGA	SASS6	TENT5A	CENPJ	COL1A1	PTDSS1	CIT	GJA1	SMS	PTH1R	FARSB	CYP2R1	TCIRG1	COPB2	TGFB1	FBN1	TBCE	PEX19	MCPH1	NF1	CEP63	CEP135	PHC1	SOST	SETBP1	KIF1A	TRAPPC14	WDR62	KIF14	CDK5RAP2	LEMD3	TRPV4	RETREG1	KNL1	ANO5	NSDHL	DMP1	STIL	MAN2B1	PRKG2	SLCO2A1	CDK6	ANKLE2	MFSD2A	VDR	GLE1	NCAPD3	SH3PXD2B	AKT1	TRIM37	FLNA	TNFRSF11A	TBXAS1	TAF13
HP_ABNORMAL_CIRCULATING_CHOLESTEROL_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_CHOLESTEROL_CONCENTRATION	CREB3L3	TDP1	ALMS1	SAR1B	RTL1	SLC25A13	DHCR7	TMEM43	FLCN	ABCA1	DLK1	TTPA	MEG3	LCAT	IFT172	PSAP	SMPD1	PIK3R5	LMNA	TSHB	PEX12	ABCA2	APOC2	NGLY1	CYP27A1	PPP1R17	CETP	GHR	PSMB8	APOB	CAV1	UBE3B	TTC26	LDLRAP1	COG4	ALG12	LIPC	ALB	GALK1	HTT	TMEM199	LDLR	RAI1	B4GALT1	PHKB	DGAT1	LRP6	SYNE2	EBP	PPARG	LPL	TBL1X	ANGPTL3	EMD	CYP11A1	ALG6	DHCR24	ATP6AP1	PHKG2	ABCG5	ABCB4	APOC3	CAVIN1	ABCG8	SLC2A3	HSD3B7	SC5D	FLII	FOS	SLC37A4	APOA1	MSMO1	DEAF1	LIPA	CYP7A1	AGPAT2	APTX	FDFT1	NUP107	CAV3	PYGL	FHL1	OCRL	PHKA2	MEF2A	APOA2	PMM2	SYNE1	ATAD3A	MTTP	BSCL2	EPHX2	PCSK9	JAG1	CCDC115	UBR1	APOA5	GPIHBP1	DYRK1B	CEP19	IQSEC2	SETX	SLC7A7	GALNT2	PANK2	NPC2	RSPO1	NSDHL	CELA2A	KIF12	APOE
HP_HYPERPHOSPHATURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPHOSPHATURIA	SLC2A2	GCM2	KRAS	ENPP1	ALDOB	NRAS	MEN1	PTH1R	GNAS	EHHADH	HRAS	ATP7B	SLC9A3R1	DMP1	ABCC6	CLCN5	SLC34A1	COA8	CASR	SURF1	HNF4A	CTNS	CDC73	SLC34A3	MT-TN	OCRL	FGF23
HP_ABNORMALITY_OF_URINE_HOMEOSTASIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_URINE_HOMEOSTASIS	PRODH	TP53	NPHS1	OFD1	GNA11	ARG1	FCGR2A	CDKN2B	PDX1	SUGCT	GATA6	OPA3	TXNRD2	AGA	INF2	FAH	HRAS	F2	SUMF1	L2HGDH	CTNS	SLC25A4	HOGA1	PNP	TRPC6	CYP21A2	EIF4H	TOP2A	UNC45A	MICOS13	MTHFR	SUCLA2	TTC26	LRP2	FH	GCK	KRAS	NPHP1	HELLPAR	SCNN1A	UMPS	PAX2	PTPRO	WDR4	HSD3B2	GCM2	TBC1D8B	DLST	ASL	HAL	PYGL	PHKB	DMP1	MT-CO1	MARS1	DIS3L2	MT-ND1	PCCB	ATP6V0A4	TREX1	SERAC1	ACADS	GLYCTK	F8	RNU7-1	PYGM	TIMM50	MTR	VHL	TAT	SLC36A2	SLC5A1	CLCN5	DBT	TPRKB	PUS3	COL4A1	SMARCAL1	CASR	NEUROD1	COL4A3	EHHADH	SDHD	MT-TF	OXCT1	SPTBN1	KARS1	YAP1	SGSH	SLC34A3	NUP37	PDP1	MMACHC	MTRR	NIPBL	D2HGDH	FUCA1	UROS	KHK	AMT	BLK	ITGB4	PLCE1	PLOD2	CD109	MT-TL1	METTL27	KYNU	PGK1	CLCNKA	NOS3	WDR19	DCDC2	CPT2	PKD1	GATM	GAPVD1	PTPN22	GANAB	ETHE1	IDS	ENPP1	APC	COX14	AUH	SLC12A1	GALNS	NR0B1	REST	GNAS	H19	ITGA2B	ELN	SDHAF2	GBA	CD46	AP2S1	IL17RA	F5	COL4A6	NGLY1	GALE	CDC73	FGF23	ATAD3A	HNF1B	SLC52A2	PDSS2	SLC6A20	CORIN	TCN2	SLC5A2	CYP24A1	FKBP6	CLPB	PIGB	FLT1	SDHB	PEX5	MT-TK	RET	RYR1	ERCC6	FAM20A	COL4A4	HADH	FKRP	CLCNKB	BUD23	TRIP13	NFS1	PMM2	HMBS	DNAJC30	SLC34A1	HSD11B2	CYP11A1	BRCA2	SAA1	SCNN1G	VPS37D	AASS	GUSB	CD320	INS	HPRT1	SLC25A21	AVPR2	CBS	SCARB2	LDHA	NNT	OSGEP	MMAB	PIGT	ERCC8	CACNA1S	DNAJB11	MT-TE	MT-ND6	SCNN1B	APOA1	LMX1B	WT1	KIF1B	GLUD1	PIGA	FIP1L1	B2M	ATP1A1	ARHGAP24	LCAT	TMEM127	CLDN10	STX16	KCNE5	GLA	ETFA	AGGF1	SLITRK6	ADCY10	FARS2	MVK	ACP5	HLA-DRB1	SLC16A12	TNFRSF11A	CEL	OCRL	CASK	AKR1D1	NF1	GABRA3	HPD	YRDC	SLC25A13	BSND	ABCC2	ABCC8	ETFDH	STAT3	G6PC1	PET117	PRPS1	SLC22A12	CLEC7A	MAX	DDOST	POLG	HNF4A	PAX4	MMADHC	HGD	GLB1	GSN	NAGA	MT-TW	NUP85	PSTPIP1	ACAD8	GATA3	SLC7A9	TBC1D24	SUCLG1	ALDOB	PCK1	SLC26A1	COX16	IDUA	SLC25A20	MYCN	NUP107	NDUFB10	MAFB	CUBN	CFI	MYO1E	CPS1	OPLAH	CLDN19	IRAK1	ALPL	KRT8	C3	MAGI2	MCCC2	HMGCL	ITGA6	NUP133	TMEM70	MAGED2	XPA	SLC12A3	SLC37A4	CYP11B2	IVD	INPPL1	HACE1	ALAD	SLC6A18	STOX1	LMNB2	IL1B	NPHS2	MDH2	MT-CO3	ALDH4A1	TK2	TSC2	FAN1	SLC1A1	PHKA2	TP53RK	ALK	HGSNAT	GP1BB	LAMB2	COQ2	BCKDHB	TNFRSF11B	ATP11C	ERBB2	HNF1A	ERCC4	BCS1L	TRAF3IP2	XPC	ZBTB16	CFH	CPOX	DPYD	ARHGDIA	KCNJ5	PCCA	DHTKD1	CTH	ACAD9	CDKN1C	DDB2	APOE	INSR	FOXC2	SNAP29	KCNJ16	COA8	MT-TS2	ALDOA	NUP93	FGFR2	NOS1AP	GDF2	MEFV	DGUOK	GSS	CDKN1B	MUTYH	MPC1	BAZ1B	FTCD	SDHC	SLC19A2	ACSF3	MAN2B1	HTRA2	MIR140	CD59	MT-ND5	MRAP	RMRP	MT-TV	MT-ATP6	STK11	SNX14	F10	CASP10	COQ8B	CNNM2	NUMA1	BTD	CFB	FMO3	SPRY2	RPIA	ERCC3	IDH2	MT-ND4	LPIN1	GEMIN4	TBL1XR1	TANGO2	MOCS2	HLCS	MMUT	ACTN4	SLC25A15	COL2A1	TTC37	ITGA2	SDHA	WDR73	ERCC2	ENG	MC2R	ISCU	CDKN2C	SLC7A7	CLIP2	SERPINF2	MOCS1	GTF2IRD1	HSD17B10	KLF11	SLC6A19	LPIN2	AMMECR1	MT-ND3	PREPL	G6PD	GTF2I	CTLA4	NCF1	SLC25A11	BCKDHA	CDKN1A	ACAT1	SLCO1B1	PGAM2	DCXR	TAFAZZIN	GALK1	MT-TH	SPP1	KANK2	DNMT3A	MCCC1	ALG9	DNAJC19	NABP1	NEU1	NT5C3A	LMAN1	PAH	THBD	GCLC	PHKG2	NADK2	AGK	PHOX2B	LIN28B	TRIM28	NAGLU	DLD	OGDH	SGPL1	TRPV6	SREBF1	ACADVL	BCL7B	GCDH	SLC3A1	TRNT1	CHUK	KCNJ18	CA5A	HLA-DPA1	ACVRL1	PPM1B	SUOX	MT-CO2	ATP7B	GP9	APRT	SLCO1B3	STAR	ATP6V1B2	NUP160	GCSH	TGFB1	AGXT	ACADM	HADHB	BCOR	HBB	CD2AP	IFT172	MYH9	FBP1	DNASE1L3	RFC2	EMP2	SMARCA2	LDHD	PML	PKD2	PRDX1	KRT18	SLC2A2	LYZ	KCNJ1	ERCC5	POU6F2	CRPPA	PIK3CA	ETFB	GRHPR	PHEX	KCNJ10	STAT4	CFTR	CLTRN	PCBD1	BICC1	UROD	CFHR5	SLCO2A1	LAGE3	RRM2B	MEN1	FLAD1	FN1	MMAA	DGKE	ZAP70	PRTN3	KCNJ11	PEX1	CYP11B1	SLC2A9	PHKA1	HLA-DPB1	NSMCE2	ARSB	NPM1	AMN	OTC	SARDH	FGA	ADAMTS13	PPOX	MLXIPL	TMEM67	PLOD1	ABCD4	TRIM8	PFKM	TKT	HLA-B	MCEE	SGCB	ABCC6	BTNL2	LIMK1	CAMKMT	VPS33A	GNPTAB	HADHA	UROC1	IER3IP1	KIRREL1	STAT5B	TSC1	NRAS	IL17RC	SLC35A1	MCFD2	ATP5F1E	LMO1	IL17F	SH2B1	IDH1	SMAD4	KLF6	MRPS2	CD81	GAA	SARS2	NOTCH2	PRKAR1A	ANLN	ACSL4	EGF	SLC25A1	ITGB3	SURF1	DMGDH	MIA3	P4HA2	ANO5	SLC34A2	APPL1	CRB2	GNAS-AS1	ASS1	TBL2	PEPD	MUC1	GLDC	SLC16A1	MAF	IL1RN	GNS	BLVRA	GK	CYP27B1	GPHN	HCFC1	SLC9A3R1	RARA	LMBRD1	TMEM270	AQP2	CYP2R1	GUCY2D	PET100	SCO1	STAT2	PIK3C2A	GYS2	NDUFAF6	STX1A	GPC3	GP1BA	NDUFS4	FXYD2	SLC52A1	COL4A5	HMOX1	ITGA8	IRF1	ITGA3	PIEZO1	MT-TN	IFT122	GTF2IRD2	CLDN16	MTX2	SLC25A19	GALT	OAT	DMD	MT-ND2	XDH	APOL1	LMNA	DBH	NUP205	IRF2BP2	SPINK5	GATA1	ASPA	COQ6	ALDH5A1	HFE	PTH1R	ATP5F1D	ANKFY1	EPAS1	HIBCH	ATPAF2	MT-TQ	MLYCD	MANBA
HP_ABNORMAL_BLOOD_ION_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_ION_CONCENTRATION	TP53	CACNA1S	NOS1AP	PKLR	FAM111A	COMT	GNA11	TBCE	CDKN2B	SKIV2L	TXNRD2	FAH	HRAS	HBB	PREPL	TCIRG1	GATA3	GTF2I	TBX5	CP	CTNS	NCF1	SLC25A11	SLC34A1	EIF4H	TMPRSS6	CDKN1A	UNC45A	DZIP1L	TRIO	ABCB6	KRAS	SCNN1A	DNMT3A	HSD3B2	GCM2	KCNJ18	NFKB2	DLST	TRAF3	DMP1	CHD7	KCNE2	COG2	DEF6	CLCNKB	PRF1	ACADVL	ATP6V0A4	ARNT2	SEMA3E	VHL	CYP17A1	CA2	CLCN5	ABCD3	CNNM2	CASR	UNC93B1	CYP11B2	CYP11B1	EHHADH	AKAP9	BCL7B	SLC3A1	SCN4A	USP8	LAMB3	PIK3C2A	FAM20C	SLC34A3	CALM3	FGF23	SCN5A	SLC26A3	TTC37	TBX1	SLC39A14	PPM1B	SLC2A1	KIF1B	CYP3A4	TMEM127	ATP7B	METTL27	ANK2	CLCNKA	TLR3	RYR1	CLCN2	ESS2	GATM	PKHD1	HSD11B2	CDC73	CARD9	MEN1	ENPP1	SLC12A1	GNAS	NR0B1	ELN	SDHAF2	AP2S1	RFC2	FARSB	RET	NUP214	TRDN	ADAMTS3	HJV	CYP24A1	FKBP6	INVS	SLC2A2	SLC30A10	KCNJ1	KL	TRNT1	HFE	ABCC6	SPATA5	FOXP1	DGCR2	PHEX	CYP2R1	BUD23	TBX19	CYP11A1	DNAJC30	SDHB	FOXP3	ATP6AP1	KCNJ10	TFR2	STAT6	SLC5A1	SNX10	BMP2	TDP2	SCNN1G	CCND1	VPS37D	AVPR2	LYST	LDHA	NNT	HAMP	COL4A3	SCNN1B	BSND	SMAD4	IARS1	BTK	USP53	ATP1A1	CACNA1D	CLDN10	STX16	CDKN1B	GP1BB	NR3C1	HLA-DRB1	SDHD	CAV1	KCNJ2	SNTA1	PPOX	TNFRSF11A	NF1	GABRA3	MLXIPL	IRF4	ALG8	TRPM6	SLC4A1	KCNQ1	TICAM1	DSG1	ORAI1	CALM1	BMPR1A	MAX	SLC40A1	BTNL2	DGCR6	HADHA	LAMA3	LIMK1	OSTM1	KIF23	CAMKMT	STAR	PRKAR1A	PIEZO1	EGF	INSR	ALG12	HADHB	ALDOB	GALNT3	NRAS	STEAP3	EIF2AK3	SLC30A2	OCRL	CSF1R	ARVCF	NOTCH3	ALPL	VDR	UFD1	PGAP2	MT-CO3	WNK1	KCNE1	NSD1	PIGT	SARS2	MAGED2	HLA-DQA1	SLC12A3	PDGFRB	KLHL3	HIRA	FGFR1	SETD2	INPPL1	CACNA1C	SAMD9	ALAD	LAMC2	CLCN7	AIP	MDH2	COL7A1	TNFSF11	SLC30A9	TNFRSF11B	GNB2	KCNJ5	ELP1	UBR1	CAV3	GNAS-AS1	SEC24C	NAB2	TBL2	CLDN19	BCS1L	PIGA	ALAS2	APC2	CPOX	HMBS	CYP27B1	CDKN1C	WNK4	PCBD1	SLC9A3R1	TMEM270	AQP2	FAT4	ATP6V0A2	ALDOA	KCNN4	SCN4B	CDH23	NDUFAF6	STX1A	SCN10A	CUL3	FXYD2	PTH	BAZ1B	MMP1	COL3A1	SDHC	LPIN1	MRAP	PDE4D	RMRP	SYK	AP1S1	JMJD1C	IFT122	NR3C2	GTF2IRD2	CLDN16	PLVAP	CALM2	CCBE1	SLC39A8	SCO2	CA12	FH	MT-CO1	HLA-DQB1	AP1B1	SDHA	PTH1R	KCNH2	DGCR8	KCNE3	MC2R	RREB1	CDKN2C	EPAS1	SLC7A7	CLIP2	HNF4A	TBK1	GTF2IRD1
HP_ABNORMAL_CIRCULATING_AMINO_ACID_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_AMINO_ACID_CONCENTRATION	PRODH	MT-TL1	HPD	MRM2	SLC25A4	PDHX	SLC25A13	MRPL3	ASL	ABCD4	MTRR	GCH1	CTH	PDHA1	NDUFA13	MIPEP	FBXL4	FAH	MT-ND3	COX6B1	PCBD1	QDPR	PET117	LMBRD1	KYNU	NAGS	LIPT2	FBP1	MICOS13	BCKDHA	PC	MMADHC	GUCY2D	MMACHC	PTS	SCO1	LIG3	TALDO1	PNPO	MCCC2	MTHFR	PHGDH	PRDX1	COX5A	NDUFS4	SUCLG1	SLC30A10	SLC25A15	PCCB	IRF6	PCK1	MCCC1	AHCY	COX16	MT-TK	HFE	NDUFB10	HAL	FTCD	RRM2B	MICU1	CPS1	TMEM126B	PLAU	NADK2	MPO	NFS1	ADK	TMEM70	MT-TV	PAH	GLYCTK	MT-ATP6	AASS	ATP5F1A	ARG1	MAT1A	COX8A	MTR	TAT	PSAT1	GLRX5	POLG	DBT	COQ9	SLC19A1	PNPLA8	OAT	DLD	MT-ND2	PCCA	MMAA	GLUL	APP	MT-ND4	CA5A	CBS	KARS1	MMAB	UROC1	PSPH	PDP1	MMUT	MT-ND6	DMGDH	ALDH4A1	BCKDK	TTC37	AMT	ASPA	BCKDHB	TNFRSF11B	GNMT	OTC	ALDH5A1	MT-ND5	COX10	TYMP	TRMT10C	MDH1	ASS1	SLC7A7	UQCRC2	NDUFC2	MT-TW	MTO1	NOS3	GLDC	SARDH	SPR	GCSH	BCAT2	MT-ND1
HP_HYPOCHLOREMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOCHLOREMIA	CLCNKB	BSND	SLC12A1	SLC26A3	MAGED2	CLCNKA	KCNJ1
HP_ABNORMAL_ECHOCARDIOGRAM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ECHOCARDIOGRAM	ACADVL	B2M	SLC25A4	FXN	COA6	DYSF	TTR	TTN	NPPA	FBN1	TWNK	POLG2	POLG	LAMA2	FHOD3	RPL3L	PPCS	SCN5A	GTPBP3	RRM2B
HP_ABNORMAL_CIRCULATING_HORMONE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_HORMONE_CONCENTRATION	FSHR	TP53	PROM1	FANCM	AR	KLF11	YY1	SHH	TRHR	CDKN2B	NDN	KANSL1	TXNRD2	LEPR	GH1	KIZ	NEK2	SNRPN	SLC25A11	TGIF1	PDE8B	FOXL2	DCAF17	IGFALS	GHSR	SOX3	MED12	CDKN1A	ZMPSTE24	AIP	BAP1	IMPG1	PREPL	INS	GCK	GALK1	NR2F2	ATRX	SMARCE1	NDNF	HSD3B2	CDON	NR5A1	FOXH1	RRAS2	NFKB2	DLST	MEN1	POMC	FGF8	CHD7	BRCC3	USP8	FGFR1	FAM111A	SLC29A3	TRAF7	MECP2	POMGNT1	WT1	MPI	GPR101	EIF2S3	LRAT	GALT	MRAP	LMNA	ARNT2	SLC7A14	MARS2	RET	PCARE	HESX1	TG	DUSP6	PLAGL1	REEP6	TDGF1	SEMA3E	LHB	CAVIN1	GNRHR	TBCK	HYMAI	CYP17A1	GLUD1	GMNN	HGSNAT	CASR	BNC1	SRD5A3	NEUROD1	CDH23	TRPV6	THRB	LEP	WDR4	ABCA4	STIL	HS6ST1	TBCE	HPGD	SIX3	IYD	ALMS1	SLC34A3	LHX3	C14orf39	MKRN3	OTX2	TDRD9	SPATA7	PTCH1	PRKACA	FLNB	NSMF	MAGEL2	PSMC3IP	ZIC2	POR	ARMC5	PDE4D	POLA1	FLRT3	NANOS1	PCSK1	BLK	KIF1B	AKT2	CRX	PDX1	PRKAR1A	CYP3A4	SBDS	POU1F1	DISP1	ESR1	DNAJC21	POU3F4	TERT	TEX11	SLCO2A1	KATNIP	NPAP1	PDGFB	SOX10	BBS2	ARL6	TMCO1	NKX2-1	HADH	VHL	OCA2	GUCA1B	PIK3CA	CNGB1	EIF2B1	AIRE	EIF2B4	GHRHR	CERKL	SPIDR	TACR3	ADAT3	RP1L1	STAG3	VAMP7	GNAS	PNPLA6	INSR	ZFPM2	DCC	NR0B1	GLI3	ZNF408	CA4	VPS13B	SDHAF2	PDE6G	IARS2	LHX4	CDC73	MC4R	PROKR2	DHX37	EIF2B5	KCNJ11	AMHR2	GCM2	TSHR	TEX15	IMPG2	KL	RGR	AGBL5	SRP54	CDHR1	SRY	DHH	DUOX2	GLI2	SCAPER	GAS1	FAM20A	CCDC141	DMXL2	WWOX	SDHD	TBX19	CYP11A1	OFD1	PMM2	PRCD	EYS	ALG6	CTDP1	GDF9	PRPF8	ZMYND15	SLC34A1	STAT6	SDHC	DLL1	HSD11B2	SLC39A4	TMEM67	CNBP	MADD	PAPPA2	NODAL	KISS1R	ARHGEF18	TBX1	LIPE	THRA	BTK	TUB	DHDDS	ARL2BP	IGF1R	B4GALNT1	CYP11B1	IFT172	PDE6B	FN1	TP63	SECISBP2	TEX14	SNORD115-1	WNT4	KISS1	NSMCE2	TAC3	KLHL10	PHEX	ABCD1	BSCL2	CYB5A	PROK2	DAXX	TMEM127	CFAP418	TBX2	SH2B1	STX16	SEMA4A	CEP57	CDKN1B	NR3C1	SYCE1	SNORD116-1	AFF4	SLC16A1	ACP5	PRPF31	CIDEC	CEL	FMR1	LGR4	POLR3GL	WDR11	NF1	EFL1	BMP15	USH2A	PRPF3	FGF17	ABCC8	CPE	TSHB	GCGR	MCTP2	STAT5B	SOX9	IFT140	NLGN4X	CTSK	STAG2	NR2E3	RP2	HNF4A	SPRY4	PAX4	RP1	STAR	FSHB	LHCGR	QRSL1	IMPDH1	CYP11B2	PROP1	FGD1	ALG12	UCP2	ERCC6	NF2	ZNF148	FANCI	LARS2	IGF2	FEZF1	XRCC2	PPARG	AHR	FOXA2	SMO	CLDN19	VDR	RNF125	AKT1	AMH	ADNP	ADORA2A	EIF2B2	IFT88	IDH3B	MCOLN1	FAM161A	DIS3L2	HTR1A	PDE6A	SEMA3A	PGM1	AGPAT2	KLHL7	NNT	HNF1A	DHX38	SMC1A	OCRL	SMARCB1	KIAA0753	ROM1	MC2R	POLR3A	MDH2	PITX2	RPE65	SDHB	RDH12	SUFU	IL17RD	MCM8	PRPF6	GNB2	DUOXA2	APPL1	NUP107	NRL	ANOS1	IDH3A	GNAS-AS1	EPAS1	NAB2	ZFP57	MRPS22	PWAR1	TOPORS	SNRNP200	RFWD3	HSD17B4	GATB	SMPD1	ESCO2	CYP27B1	AVP	CDKN1C	DYRK1A	POLE	GATA4	POLR3H	MAP3K1	SIM1	GRM7	CYP2R1	KMT2A	NLGN3	CAV1	RBP3	MEIOB	MAFA	PRPH2	SAG	RNPC3	GATC	MAK	FIGLA	KIAA1549	PTH	RPGR	ARL3	SOHLH1	RHO	BEST1	USP9X	CNGA1	TBL1X	GHR	MERTK	GNRH1	SYCP3	SIN3A	SHROOM4	MPDU1	PDE11A	ESR2	FOS	DMRT3	ZNF513	CFTR	HERC2	RP9	FSCN2	TRMT10A	FANCF	TTC8	PPP2R3C	BANF1	TPO	MAX	PWRN1	FH	DBH	CLRN1	COL2A1	IRS4	HFE	AAAS	CBX2	TULP1	THOC2	SDHA	PRPF4	CRB1	TAF4B	SLC5A5	EIF2B3	RLBP1	RBM28	SOST	CDKN2C	SLC7A7	HFM1	WASHC5	PLIN1	PNLDC1	RNU4ATAC	AHI1
HP_INCREASED_CIRCULATING_CORTISOL_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_CORTISOL_LEVEL	CYP11B2	TP53	PRKAR1A	PRKACA	GNAS	KCNJ11	PDE11A	MEN1	ARMC5	HTR1A	CDKN2B	CDH23	CDKN1B	AIRE	PDE8B	USP8	CDKN2C	NR3C1	CYP11B1	RET	CDKN1A
HP_ABNORMAL_CIRCULATING_LIPID_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_LIPID_CONCENTRATION	TNPO3	SAR1B	MLXIPL	MYO5A	SLC25A13	GPD1	FLCN	DLK1	TTPA	PEX1	ABCD1	XRCC4	LEPR	LMNA	TSHB	G6PC1	GTF2I	PEX12	CFHR1	ABCA2	APOC2	NCF1	HAVCR2	PNLIP	PDE8B	TFG	SMARCAL1	DCAF17	LIMK1	NSMCE2	EIF4H	ABCC8	PEX19	CYP27A1	PPP1R17	MMEL1	PSMB10	ABCA1	HADHA	PSMB8	APOB	ZMPSTE24	TTC26	LDLRAP1	PEX7	HSD17B4	ACAD8	ALG12	UCP2	GALK1	RAB27A	HTT	TMEM199	COX16	SLC25A20	IL12A	PYGL	ACOX2	PHKB	AR	DGAT1	MCFD2	LRP6	ALB	SYNE2	PPARG	LPL	EMD	DEF6	NADK2	PRF1	ACADVL	CPT2	PEX2	HMGCL	GHR	LMAN1	PEX5	ACADS	PHKG2	ABCG5	PIGT	APOC3	CAVIN1	TBCK	HSD3B7	SC5D	SLC37A4	IL12RB1	CAV1	PHYH	MEG3	DLD	SGPL1	APOA1	BSCL2	CPT1A	LDLR	LEP	CYP7A1	EHHADH	AGPAT2	MTX2	STX11	HNF1A	APTX	BCL7B	NUP107	CAV3	FHL1	LIPA	OCRL	LMNB2	ALMS1	RAI1	NPHS2	CCT5	PHKA2	MMACHC	POLR3A	PSMB4	PMM2	ATAD3A	ACADM	PRKACA	EBP	COL7A1	TDP1	POLD1	FECH	ARMC5	RTL1	AGL	PCSK9	JAG1	MTTP	UBR1	APOA5	CIDEC	GNAS	METTL27	ACAD9	TBL2	GALNT2	DHCR7	PANK2	TANGO2	NPC2	MT-TE	RSPO1	ABCG8	NSDHL	CFH	HADH	APOE	POU2AF1	GATM	PEX16	CREB3L3	SLC22A5	HADHB	LIPE	TMEM43	MT-TK	SLC12A1	PEX11B	LMF1	NPHS1	LCAT	IFT172	PSAP	SMPD1	GK	PIK3R5	ELN	SLC34A1	STXBP2	TMEM270	XIAP	RFC2	NGLY1	CETP	LMBRD1	SCO1	PNPLA2	UBE3B	PLIN1	FBN1	COG4	KCNJ11	FKBP6	PSMB9	GYS2	LIPC	STX1A	MC4R	KCNJ1	ACTN4	IRF5	SPIB	SLC52A1	BAZ1B	MMP1	FARSA	B4GALT1	ABHD5	PEX6	TBL1X	BUD23	ANGPTL3	PEX10	CYP11A1	ALG6	DNAJC30	MCM10	DHCR24	ATP6AP1	CFHR3	ABCB4	PRKAR1A	SLC2A3	GTF2IRD2	PDE11A	FLII	FOS	LTC4S	PIGH	PLVAP	VPS37D	PEX14	MSMO1	PLA2G7	DEAF1	FDFT1	MT-TL1	PEX3	SLC2A2	LYST	PLA2G4A	UNC13D	TNFSF15	MEF2A	APOA2	CTNS	SLC29A3	SYNE1	PEX26	ADCY3	PEX13	EPHX2	CCDC115	YARS1	GPIHBP1	CYP19A1	DYRK1B	NDUFAF6	CEP19	IQSEC2	SETX	SLC7A7	CLIP2	GLA	HNF4A	GLYCTK	GTF2IRD1	PCYT1A	CELA2A	AEBP1	KIF12	AKT2	TRMU
HP_LIMB_JOINT_CONTRACTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_JOINT_CONTRACTURE	TGFB3	IRF5	ITGB4	UNC80	MECP2	SLC25A4	ALS2	RPL10	PYROXD1	TP63	CDC6	MT-TE	DAG1	RTTN	PDX1	TWIST2	XYLT1	DPM1	IL6ST	INS	BCOR	FLVCR1	EZH2	PAX3	HSPG2	SPRTN	ALG2	ROR2	GTF2H5	PIEZO2	FBN2	TOR1A	SELENON	AMER1	SYT2	EMD	ERCC2	COL2A1	MMP2	LIFR	GCK	CANT1	MYLPF	IGHMBP2	WDR4	TPRKB	CHRNG	DDR2	LAMA2	HOXD13	NEFL	SLC29A3	ARX	SYNE2	ESCO2	LMNA	COL6A2	KY	CRKL	SLC6A9	SMAD3	COL6A3	SLC26A2	PSTPIP1	F8	TNNI2	CHST3	ERLIN2	PHGDH	KDM5C	ITGA7	SMC1A	DHODH	EED	NALCN	RYR1	LAMC2	C19orf12	ERCC1	GLI3	EFNB1	PLEC	SLC18A3	GFPT1	SGCG	SLC10A7	WDR73	SMG9	SKI	MYH3	LMBR1	WNT7A	FKRP	HRAS	DSP	CAV1	RAB3GAP1	FUS	SMOC1	ECEL1	MYH7	MED12	WDR26	NIPBL	FLNA	FIG4	GJA1	GPKOW	MED25	POR	CCN6	AUTS2	TELO2	PRDM16	MAP3K20	ALX3	PLOD2	PIGN	NXN	ZDHHC9	RNU4ATAC	TGFBR2	ACTA1	BRF1	COL11A1	DVL1	SNRPB	DYRK1A	TNNT1	SVIL	PRG4	ALDH18A1	ALG14	ERGIC1	GPC3	COL12A1	PLOD1	IDS	FGD1	ADAT3	SPTLC1	ASXL1	SIGMAR1	RTL1	BAG3	KAT6B	CADM3	RERE	PIK3R2	NLRP3	SPEG	NSUN2	DDHD2	FERMT1	GMNN	MYOT	FKBP10	FKTN	NGLY1	SLC35A3	TTN	ADAMTS3	SIK3	SGCA	RIPPLY2	COL17A1	GJB2	TPM2	DOK7	BMP4	ATR	PEX5	TNNT3	NT5C2	KCNK9	TGDS	ERLIN1	TRPV4	EMG1	FGFR3	CNTNAP1	COL6A1	KRT16	ZBTB20	CDH3	DPAGT1	MBTPS2	NOD2	DLL3	LGI4	CLCF1	MEG3	PIGL	PLOD3	CCR6	ECE1	FBN1	WNT5A	CRLF1	FDFT1	NUP88	PMP22	L1CAM	HACD1	PHF6	COG5	TGFBR1	ERCC8	TRPS1	SYNE1	ANTXR2	TMEM222	LMX1B	ABCD1	PSAT1	DLK1	ERCC6	TUBB3	HLA-DRB1	SDHAF1	SDHD	CDT1	SRD5A3	OTUD6B	PQBP1	PORCN	MYOD1	OCRL	POLR3GL	GNPTAB	ORC1	KRT14	ORC4	KRT9	CAPN3	BCAS3	SMARCAD1	STAT3	PITX1	NOG	SEPSECS	CTCF	FBXW11	LARGE1	SDHA	GDF5	LAGE3	COL11A2	TFAP2A	PSMB8	BICD2	KRT1	SHH	PRKCZ	KLHL9	TBX3	RAPSN	ZMPSTE24	CTDP1	IDUA	UBE4B	EXOC6B	MESP2	UROS	TPM3	SUZ12	ACTG2	PTRH2	CCBE1	NSD1	NUP107	TMEM70	MYO9A	OSGEP	FZD2	KCNAB2	SETD2	FHL1	TBX15	ALAD	ATP6V1E1	LFNG	PLEKHG5	CNTN1	MMP23B	GDAP1	SLC39A13	TOR1AIP1	SLC25A46	PDPN	ZNF407	ANO5	MAP3K7	MYL2	GNB2	NAA10	MAPK1	PNPT1	UPF3B	MUSK	PTDSS1	B3GALT6	ERCC4	CCN2	CDC45	APC2	TBC1D2B	ALG3	SPG11	CRPPA	ALX1	TMEM43	SPEN	PI4KA	MEGF10	FAT4	ZC4H2	SDHB	SPTBN4	PPP2R5D	NEB	LAMB3	KIF5A	B3GAT3	PIK3C2A	CPT2	TP53RK	MORC2	NUP133	BIN1	SCARF2	PIGY	DVL3	GMPPB	RAB23	HS2ST1	CASZ1	TCTN3	ERCC5	SLC25A19	CUL4B	HINT1	MYBPC1	DHCR24	ARID1B	P4HTM	MAFB	ABCC8	GARS1	BCR	POMT1	GFM2	OPA1	DMD	SLC39A8	LUZP1	KIAA0319L	HES7	IKBKG	ASXL3	SLC35A2	KIF22	JUP	TBR1	ABHD12	IPO8	GPC4	POLR3A	PEX6	JAG2	ANKLE2	GABRD	PTH1R	PEX1	PYCR1	UBA1	SH3PXD2B	EIF5A	GJB1	TRIM2	TMEM218	EXTL3	KCNJ11	LAMA3	GJB6	ORC6	DHX16	ADAMTSL2
HP_HYPERCHOLESTEROLEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERCHOLESTEROLEMIA	CREB3L3	TDP1	CAVIN1	ABCG8	RTL1	SLC25A13	FLII	FOS	SLC37A4	CAV1	MEG3	DLK1	TTPA	LPL	IFT172	DEAF1	LDLR	PIK3R5	TSHB	LIPA	CYP7A1	AGPAT2	APTX	NUP107	APOC2	CAV3	PYGL	OCRL	RAI1	PHKA2	APOB	MEF2A	TTC26	LDLRAP1	COG4	LIPC	BSCL2	ALB	GALK1	PCSK9	LMNA	TMEM199	JAG1	CCDC115	DYRK1B	CETP	PHKB	CEP19	DGAT1	ABCG5	LRP6	IQSEC2	PPARG	SETX	SLC7A7	TBL1X	RSPO1	KIF12	GHR	APOE	ATP6AP1	PHKG2	ABCB4	APOC3
HP_REDUCED_FACTOR_VIII_ACTIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_FACTOR_VIII_ACTIVITY	MCFD2	SOS1	VWF	LMAN1	F8
HP_LOW_MOLECULAR_WEIGHT_PROTEINURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_MOLECULAR_WEIGHT_PROTEINURIA	SLC34A1	NDUFAF6	CTNS	CLCN5	LRP2	OCRL	EHHADH	GATM
HP_HYPOCALCIURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOCALCIURIA	SLC12A3	PHEX	FAM20A	FXYD2	AP2S1	CLDN10	GNA11	KCNJ10	CASR	CLCNKB
HP_LACTIC_ACIDOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACTIC_ACIDOSIS	HSD17B10	MT-TW	NDUFB3	NDUFA1	MT-ND6	NAXE	SLC25A4	SLC25A13	MPV17	ETHE1	NDUFB9	NDUFAF5	UQCRFS1	SLC25A3	PDHA1	MT-TL1	LYRM4	G6PC1	PREPL	NDUFV1	MT-ND5	YARS2	OGDH	MT-CYB	BOLA3	MT-TV	MRPS34	FOXRED1	SQOR	MT-ND3	BCKDHA	CAMKMT	SUCLG1	TYMP	DLAT	AGK	HADHA	LIG3	QRSL1	SUCLA2	FH	NDUFA4	TAFAZZIN	LIAS	MT-TH	WARS2	ALDOB	SDHA	PCK1	COX16	NDUFS6	NDUFB10	PYGL	PHKB	DLD	MT-CO1	NDUFAF1	ATP5F1E	NDUFA10	MARS1	NDUFAF2	TKFC	NDUFAF8	MT-ND1	NDUFAF3	NDUFS1	SERAC1	PHKG2	NADK2	MT-ND2	TSFM	LRPPRC	SLC37A4	SLC25A26	DBT	COQ9	PDP1	NDUFS8	SDHD	MT-TF	PDHB	SLC3A1	TRNT1	CA5A	LYRM7	IBA57	PUS1	SURF1	NDUFS2	SLC25A19	MT-CO3	COQ8A	RMND1	TK2	PHKA2	PPM1B	MT-CO2	TMEM126B	COQ2	GFER	BCKDHB	TRMU	GTPBP3	TIMMDC1	LONP1	TRMT10C	ACAD9	TANGO2	BCS1L	MT-TE	LARS1	ALDH7A1	HADH	UQCC3	SCO2	POLG	MT-TT	PDHX	HADHB	DNM1L	GATB	NDUFS3	MIPEP	FBXL4	NDUFAF4	COX6B1	NDUFB11	LIPT2	FBP1	MT-TC	LIPT1	MICOS13	COA8	PC	MT-TS2	PET100	NDUFV2	NDUFS4	CYC1	MRPS14	NDUFS7	PCCB	GATC	DGUOK	SFXN4	MPC1	RRM2B	USP18	TMEM70	MT-TN	ELAC2	COX8A	PLPBP	SLC25A42	NDUFA11	SLC13A5	PMPCA	PNPLA8	PCCA	COA6	MRPS16	AARS2	RYR1	NDUFA8	NFU1	NDUFA6	TPK1	TUFM	EARS2	NDUFAF6	MT-TQ	COX10	MT-TK	ATP5F1D	ISCU	MT-ND4	ATPAF2	PDSS2	MTO1	LARS2	FARS2	MRPS7	NUBPL	MLYCD
HP_ABNORMAL_PERIPHERAL_MYELINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PERIPHERAL_MYELINATION	GDAP1	MT-TL1	GBF1	MPV17	NDUFAF4	LITAF	RAI1	SCN9A	ABCA1	SPTLC1	PRX	FA2H	INF2	ASXL1	WNK1	MT-ND3	LMNA	SUMF1	FLRT1	MTMR2	TYROBP	TFG	DNM2	PRPS1	MPZ	PMP22	LIG3	NEFL	SBF1	MORC2	SACS	ARSA	GALC	DHH	MT-TK	MTRFR	ERCC6	RRM2B	FAM126A	LMNB1	NGF	ARHGEF10	SLC12A6	MT-TV	MT-ATP6	CTDP1	KCNJ10	SBF2	PLP1	EGR2	HSPB8	JPH1	MAT1A	LRPPRC	ZNHIT3	VPS13A	HK1	SH3TC2	POLG	TPRKB	FLVCR1	MME	RETREG1	ERCC8	PLEKHG5	MT-ND2	DCAF8	PMP2	KIF1C	ELP1	UBTF	APTX	GCDH	KIF1A	HACE1	MFN2	SPG11	PSAP	MT-ND4	KIF1B	SPTBN1	DNMT1	MOCS2	COQ7	MMACHC	MT-ND6	GAN	COX6A1	NTRK1	FIG4	SURF1	MTTP	RAB7A	MT-ND5	TYMP	GJB1	TRIM2	MOCS1	MT-TW	GNB4	KLC2	SOX10	FGD4	DHX16	NDRG1	MT-ND1
HP_CYSTINURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CYSTINURIA	AASS	CAMKMT	SLC3A1	SLC7A9	PREPL	PPM1B
HP_ABNORMALITY_OF_THE_SPINOCEREBELLAR_TRACTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_SPINOCEREBELLAR_TRACTS	ATXN2	TDP1	MAN2B1	RNASEH1	ATXN3	ATXN1	GCLC	RRM2B	PLP1	GJB1
HP_PROLINURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLINURIA	ALDH4A1	PRODH	SLC6A18	SLC6A20	SLC36A2	SLC6A19	OPLAH
HP_INCREASED_BLOOD_UREA_NITROGEN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_BLOOD_UREA_NITROGEN	CFHR1	FAN1	CD46	SLC22A12	ERCC4	C3	ERCC6	ERCC8	CFB	DBH	SLC2A9	CFI	CFH	PIGA	THBD	ELP1	CFHR3	ADAMTS13
HP_PANHYPOGAMMAGLOBULINEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANHYPOGAMMAGLOBULINEMIA	CIITA	RAG1	MPLKIP	TTC37	GTF2H5	TARS1	SKIV2L	RFX5	RFXANK	JAK3	RAG2	ZAP70	RFXAP	IL21R	BTK	RNF113A	GTF2E2	ERCC2	DCLRE1C	ERCC3	SP110
HP_INCREASED_LDL_CHOLESTEROL_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_LDL_CHOLESTEROL_CONCENTRATION	LDLRAP1	ABCG8	SLC25A13	ALB	EPHX2	TMEM43	PCSK9	TTPA	TMEM199	LPL	SMPD1	CCDC115	LDLR	LMNA	CYP7A1	CEP19	ABCA2	SYNE2	FHL1	SLC7A7	LIPA	EMD	CELA2A	PPP1R17	GHR	APOE	APOB	ABCG5	APOA2	SYNE1	LCAT
HP_INCREASED_SERUM_SEROTONIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_SERUM_SEROTONIN	NLGN4X	MECP2	SDHD	CDKN2C	ATRX	CDKN2B	CDKN1B	CDKN1A	SNRPN	NLGN3	MEN1	DAXX	SHROOM4
HP_DECREASED_ADENOSYLCOBALAMIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_ADENOSYLCOBALAMIN	MMADHC	LMBRD1	MMACHC	PRDX1	MMAA	MMAB	ABCD4
HP_HYPOCHOLESTEROLEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOCHOLESTEROLEMIA	UBE3B	FDFT1	SAR1B	PEX12	MTTP	ALG12	HSD3B7	DHCR7	FLCN	PSAP	MSMO1	ABCA1	PMM2	ATAD3A
HP_ELEVATED_SERUM_ACID_PHOSPHATASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_SERUM_ACID_PHOSPHATASE	TNFRSF11B	PSAP	CLCN7	CA2	OCRL
HP_HYPERURICOSURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERURICOSURIA	SLC34A1	NDUFAF6	PRPS1	HPRT1	SLC2A9	SLC22A12	EHHADH	GATM	ALDOB
HP_GLUTARIC_ACIDURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLUTARIC_ACIDURIA	GCDH	SUGCT	HMGCL	ETFDH	ETFA	DNAJC19	ETFB	D2HGDH
HP_INCREASED_CIRCULATING_ACTH_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_ACTH_LEVEL	CYP11A1	POR	NR3C1	ATRX	CYP11B1	MRAP	USP8	CDH23	MC2R	AIP	DAXX
HP_HYPEROXALURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPEROXALURIA	GRHPR	HOGA1	SLC26A1	AGXT	PEX1
HP_FASTING_HYPOGLYCEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FASTING_HYPOGLYCEMIA	INSR	SLC2A2	FBP1	SLC1A1	GCDH	HNF4A	PHKA2	TBX19	IARS2	KCNJ11	PCK1	ABCC8	SLC25A20	IGF2	SECISBP2	GYS2	PHKG2	HNF1A	PHKB
HP_ELEVATED_URINARY_DELTA_AMINOLEVULINIC_ACID	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_URINARY_DELTA_AMINOLEVULINIC_ACID	HMBS	CPOX	FAH	ALAD	PPOX
HP_HYPOTHALAMIC_GONADOTROPIN_RELEASING_HORMONE_DEFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOTHALAMIC_GONADOTROPIN_RELEASING_HORMONE_DEFICIENCY	HS6ST1	FGF8	CCDC141	IL17RD	DUSP6	FGF17	SOX10	CHD7	TACR3	FLRT3	PROK2	NDNF	FGFR1	HESX1	ANOS1	DCC	SEMA3A	FEZF1	PROKR2	SPRY4	WDR11
HP_ELEVATED_CIRCULATING_PARATHYROID_HORMONE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CIRCULATING_PARATHYROID_HORMONE_LEVEL	CDC73	GNAS	PHEX	GCM2	PDE4D	KL	MEN1	CYP27B1	CYP3A4	GNAS-AS1	SOST	STX16	CDKN1B	VDR	CASR	CYP2R1	PRKAR1A	NF1
HP_ABNORMAL_ACETABULUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ACETABULUM_MORPHOLOGY	CANT1	ERGIC1	GLB1	RINT1	DYNC2I1	B3GALT6	PLOD1	UFSP2	COMP	FLNB	RPS15A	COL2A1	AP4B1	TMEM251	KIAA0586	FIG4	CEP120	EIF4A3	HSPG2	SMARCAL1	FKBP10	PTH1R	TMEM67	DYM	GNPTAB	TRIP11	BGN	XYLT1	MMP2	SERPINF1	DYNC2H1	SLC26A2	CSGALNACT1	RAB23	FGFR3	TRPV4	AP3B1	MIR140	WDR19	EVC2	MYO18B	RNU4ATAC	VPS33A	SMAD3	CRTAP	HOXA11	TBX4	HYAL1	EVC	CHD4	GPX4	POLR1A	INPPL1	COL10A1	COG1	NANS	SLC35D1	AP4S1	TGFB2	GUSB	MATN3	FGFR2	ARSB	CCN6	TONSL	AP4E1	AP4M1	CSPP1	IFIH1	GATA1	IFT52	TGFBR2	WDR35	COL1A2	EXTL3	CENPJ	FBN1	COL1A1	TIMM22
HP_ABNORMALITY_OF_THE_PUBIC_BONE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PUBIC_BONE	PIGG	IRF5	RUNX2	CUL7	SMAD4	CCR6	COL2A1	CPLX1	INPPL1	FREM2	KAT6B	NKX3-2	FIG4	HSPG2	KIAA0319L	ATP7A	WNT7A	TBX15	DYM	CCDC8	CAV1	NELFA	FRAS1	FGFR2	INTU	SETBP1	LETM1	GJB2	GSC	HLA-DRB1	OBSL1	NSD2	MATN3	CCN2	ABCC9	GRIP1	CTBP1	COL11A2	GJB6	FLNA	RNU4ATAC
HP_ABNORMALITY_OF_THE_ISCHIUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ISCHIUM	TRIP11	FGFR2	IRF5	LIFR	COL11A1	PAM16	CUL7	KAT6B	CAV1	CCR6	COL2A1	HLA-DRB1	INPPL1	OBSL1	CDCA7	CCN2	ALG9	ABCC9	HSPG2	KIAA0319L	EXTL3	COL11A2	TBX15	CCDC8	IFT43
HP_HYPOPLASTIC_ISCHIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_ISCHIA	TRIP11	CDCA7	FGFR2	ABCC9	HSPG2	COL11A1	PAM16	CUL7	COL11A2	TBX15	KAT6B	CCDC8	COL2A1	INPPL1	IFT43	OBSL1
HP_SQUARED_ILIAC_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SQUARED_ILIAC_BONES	RNU4ATAC	PLCB3	NEPRO	TRPV4	AEBP1	CEP120	INPPL1	PAM16	PTH1R	LONP1
HP_PROTRUSIO_ACETABULI	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROTRUSIO_ACETABULI	MMP2	HSPG2	SERPINF1	TGFBR2	COL1A2	FKBP10	PLOD1	SMAD3	CRTAP	TGFB2	FBN1	COL1A1
HP_FLAT_ACETABULAR_ROOF	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLAT_ACETABULAR_ROOF	CANT1	CHD4	BGN	XYLT1	GPX4	SLC26A2	COMP	COL2A1	FLNB	INPPL1	CSGALNACT1	FGFR3	TMEM251	COG1	FIG4	MATN3	NANS	TRPV4	CEP120	SLC35D1	MIR140	IFT52	PTH1R	WDR35	DYM	GNPTAB	TRIP11
HP_SHALLOW_ACETABULAR_FOSSAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHALLOW_ACETABULAR_FOSSAE	RNU4ATAC	GATA1	UFSP2	SMARCAL1	IFIH1	RAB23	GNPTAB	HOXA11	TBX4	TONSL
HP_WIDE_PUBIC_SYMPHYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDE_PUBIC_SYMPHYSIS	FRAS1	RUNX2	FREM2	GRIP1	DYM
HP_DECREASED_HIP_ABDUCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_HIP_ABDUCTION	TNNT1	CHST3	PIEZO2	MATN3	TPM2
HP_SHORT_GREATER_SCIATIC_NOTCH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_GREATER_SCIATIC_NOTCH	GPC4	TRPV4	GPC3	FGFR3	SLC26A2
HP_INVERTED_NIPPLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INVERTED_NIPPLES	RERE	RTL1	ALG11	EZH2	TBX3	WAC	MAN1B1	ALG12	BICRA	INTU	PEX3	MGAT2	ACOX1	DLK1	ALG8	DPM1	EBF3	MEG3	RFT1	B4GALT1	HNRNPK	ALG3	COG7	ALG9	KAT6A	DEF6	PIGT	WASF1	DPAGT1	SLC35A2	PMM2	SOX6	ATN1	NFIX	TCF20	SLC25A46
HP_BREAST_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BREAST_HYPOPLASIA	IKBKG	MAF	ORC1	GNRHR	TBX3	PROK2	TP63	TACR3	KISS1R	CDT1	TWIST2	FGF17	POC1A	DCC	SEMA3A	USP9X	HS6ST1	CHD7	SPRY4	YY1	HESX1	FSHB	PROKR2	NIN	KISS1	TAC3	IL17RD	DUSP6	NSMF	FLRT3	FGFR1	NDNF	ANOS1	FEZF1	EFNB1	ANTXR1	ORC6	ESR1	FGF8	CCDC141	WDR11	SOX10	ORC4	GNRH1
HP_LONG_NOSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_NOSE	KAT6B	ZMYM2	RECQL4	SETD2	MED12	ASXL3	NOTCH2	TWIST1	SRCAP	JAG1	SPATA5	NBN	XRCC4	PIEZO2	OPHN1	SOX11	POLE	NOG	AP1S2	SOX18	THOC6	ACTB	SCUBE3	NEXMIF	EXTL3	FGFR2	PIGS	AP4E1	ACTG1	SATB2	ABL1	SLC9A6	RNU4ATAC	PIGU	ABCC9	GJA1
HP_ALLERGIC_RHINITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALLERGIC_RHINITIS	IGKC	PGM3	SIK3	PLA2G7	SLC27A4	IGHG2	PLCG2	KRT74	CDSN	COX4I2	MS4A2	CARMIL2	IL4R	SPINK5
HP_SHORT_NOSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_NOSE	CANT1	GAS1	MLXIPL	HDAC8	RAD21	KRAS	NALCN	PURA	RPS7	ARID2	ROR2	RIPK4	BRAF	DPM2	CCDC88A	SNRPN	RAC3	GPC3	AGA	FBN1	FLNB	INPPL1	SMOC1	GTF2I	APC	NCF1	CTCF	PAX3	PLA2G6	ARSL	LMNB1	CHSY1	ZNHIT3	SPECC1L	LIMK1	TRIP12	PYCR2	EIF4H	ZBTB24	VPS33A	HSPA9	UBR1	TRIO	SATB2	GPC4	ATAD3A	FGD1	CACNA1G	LRP2	LIFR	GTPBP2	PIGN	FAM20C	DSE	NODAL	RSPRY1	SMARCA4	DDR2	RNF13	PTEN	NFIX	NEXMIF	PGAP2	MADD	HUWE1	PAFAH1B1	SLC26A2	SLC12A6	MARS2	FOXP1	DVL3	DDB1	FOXG1	SC5D	ZNF699	SMC3	BPNT2	ADNP	SLC25A24	SMC1A	FZD2	DIS3L2	SOX4	EDA	GMNN	FUT8	SMARCB1	PPP1R15B	SMARCC2	ATP6V1A	BMP2	BCL7B	POU1F1	WASHC5	NPR2	TBC1D20	PTCH1	ARID1A	ZMPSTE24	TONSL	SPTBN1	PUS1	WAC	TCF20	COL11A1	ABL1	SHOC2	GPC6	SIX3	PTH1R	CD96	HDAC6	FLNA	NRAS	CDON	SETBP1	SOX11	POR	PDE4D	SMARCE1	FGFR2	PIGV	SUFU	ARID1B	GNB2	ZSWIM6	ABCC8	RAB18	SYT1	GRIN2A	MEF2C	MTOR	VPS53	NXN	HOXB1	METTL27	TBL2	PEPD	ALDH6A1	TRIP11	PPP1R12A	COL11A2	STAMBP	TMCO1	FGFR1	DVL1	IL1RAPL1	TBL1XR1	DISP1	ALG9	ZPR1	FAR1	ADSL	MYH3	MAF	PIGF	ADAT3	B3GALT6	FGF8	PLAA	GLI3	EFTUD2	AVP	CDKN1C	EHMT1	DYRK1A	DPYD	NIPBL	TRRAP	ELN	RAB3GAP1	MAP2K1	TMEM270	AFF4	RECQL4	RFC2	COX7B	VARS1	NCAPG2	RAB3GAP2	PPP2R5D	LONP1	KMT2A	DPF2	TDGF1	LTBP3	OFD1	ERF	UBE3B	BUB1B	ZIC2	CREBBP	FKBP6	PAM16	BRD4	MYMK	MPLKIP	STX1A	CASK	PLCB3	KIAA1109	TGIF1	SMARCD1	COL2A1	DCPS	BAZ1B	RAI1	SON	CLP1	CDCA7	SMO	CHST14	TCTN3	MIR140	FOXH1	BUD23	HIC1	DNAJC30	DHCR24	ATRX	SLC2A10	HRAS	GATA4	SIN3A	KIF7	PHIP	FLI1	GTF2IRD2	CCDC22	FLII	YARS2	MED13L	SPOP	PLOD3	VPS37D	ECE1	DEAF1	WNT5A	TAPT1	GLUL	KIF1A	ATP6V1E1	PPP1CB	GBA	GGCX	TRMT10A	GJA1	PIGT	ASXL3	PUF60	MBD5	INTS1	MAP2K2	MOCS2	BMPER	ATP6V0A2	PIGU	ZNF462	ZMYM2	NFIA	GLI2	POLR1A	B3GLCT	PIGO	SHH	YWHAE	PEX6	TXNL4A	DLL1	PAK3	PPP1R21	TCTN2	COG7	IQSEC2	DNMT3B	CLIP2	CEP57	MN1	ACTB	MOCS1	WNT7A	EXTL3	PRKAR1A	GTF2IRD1	KCNJ11	LRP4	ADAMTSL2	PARS2
HP_MYOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOPATHY	TRAPPC11	UNC80	SLC25A4	MYO9A	AGRN	BIN1	TBCE	OPA1	TNNC1	MT-TE	MT-CYB	BAG3	DNM1L	POMT2	NEXN	MT-ND1	LAMP2	RYR1	MT-ND5	GTF2I	KLHL41	DES	NCF1	HSPG2	CHRNE	ALG2	ADSS1	TMPO	EIF4H	AGK	SELENON	TTN	WFS1	PGAM2	C1QBP	EMD	SLC25A1	MSTO1	TPI1	MYH7	TAFAZZIN	TWNK	MT-TH	MT-ATP6	CAV3	NODAL	MYF6	PRDM16	PTEN	MT-CO1	COLQ	SYNE2	MT-TP	MT-ND4L	MT-TI	LMNA	COL6A2	POLG	MYO18B	MYH14	COL6A3	STIM1	ACADS	GCLC	CASQ1	TIA1	NALCN	MT-ND6	FKTN	PLEC	ACTA1	LMOD3	GFPT1	SGCG	DNAJB6	SLC25A3	BCL7B	MT-TF	PTCH1	MTMR14	MYOD1	FKRP	CRYAB	PUS1	NDUFAF1	SIX3	COL9A3	RMND1	CDON	CHRNB1	MT-CO2	POLG2	AGL	MYOT	CHRNA1	XK	MT-TL1	GNE	RAPSN	METTL27	MT-CO3	TANGO2	PGK1	TRIP4	DISP1	FKBP14	TNNT1	AKT1	SVIL	ALG14	DMD	COL12A1	PLOD1	SLC22A5	CHKB	ACADM	HADHB	DNM2	CCDC174	RERE	PABPN1	CISD2	NDUFS2	ELN	SIL1	COL9A1	MT-TC	RFC2	SCN4A	B3GALNT2	MYPN	PNPLA2	MYBPC3	ZIC2	FKBP6	MYMK	SLC5A7	ADGRG6	LDB3	TGIF1	RAF1	TNNT2	ABHD5	COL13A1	FOXH1	BUD23	COL6A1	PANK2	TK2	ZBTB20	DPAGT1	DNAJC30	TNPO3	CSRP3	DPM3	B4GALT1	ERGIC1	VPS13A	VPS37D	FLAD1	CFL2	FXR1	DNA2	VWA1	SGCD	ORAI1	CACNA1S	FHL1	POMGNT1	SYNE1	GLI2	MTTP	DYSF	ITGA7	MT-TK	SHH	SDHAF1	MT-TQ	DSP	SDHD	MT-ND4	SGCA	TAF1A	PLN	SAR1B	MT-TW	GAS1	MLXIPL	NDUFAF4	COMP	VCP	RRM2B	SQSTM1	ACACA	AP1S2	SGCB	DOK7	TRIM32	MT-TV	LARGE1	HADHA	SDHA	LIMK1	LRP12	KBTBD13	DSG2	CHCHD10	PRKCZ	NEB	KLHL9	HNRNPA2B1	CENPF	ALDOA	TXNRD2	TPM2	GYG1	TPM3	TNNI3	UBE4B	ANO5	FHL2	SNAP25	NDUFB3	TKFC	CPT2	POMT1	PPCS	CHRND	COL9A2	TPM1	SYT2	LAMB2	KCNAB2	VMA21	CHAT	GIPC1	MUSK	HNRNPA1	ACTC1	DSE	MYBPC1	MMP23B	NUBPL	SCN5A	ACTN2	PDPN	SUFU	FLNC	BSCL2	GFER	CAPN3	ACAD9	TBL2	LMNB2	NEFH	ANKRD1	MT-RNR1	CRPPA	ALPL	TMEM43	FGF8	SPEN	GK	GMPPB	CAP2	TMEM270	VAMP1	SDHB	LRP4	PSEN2	MT-TS2	TDGF1	DOLK	STX1A	RBM20	MT-ND2	PRKAG2	BAZ1B	PSEN1	FGFR1	KLHL40	SLC18A3	CHST14	MAN2B1	CASZ1	INPP5K	ABCC9	AMPD1	GTF2IRD2	PPARG	YARS2	NDUFA11	MYH2	UBA1	VCL	XDH	NEFL	LUZP1	HAND2	MYH6	CTNS	MT-TT	JAG2	GABRD	SKI	EPG5	DLL1	AK9	ISCU	CLIP2	TCAP	MGME1	GTF2IRD1	MTAP	GATAD1	HNRNPDL	UNC45B	LAMA4	RET	NARS2	DHX16	TRMU
HP_DECREASED_MUSCLE_MASS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_MUSCLE_MASS	PLOD1	TGFB3	VANGL1	CPLX1	FGFRL1	POLG	GFPT1	NDN	HERC2	ATP6V1A	G6PC1	LETM1	ATP6V1E1	SNRPN	FSHB	SPARC	COLQ	CTBP1	SMS	PWRN1	AP4E1	DSE	ATP6V0A2	PTEN	CHRNE	MKRN3	ECEL1	SNORD115-1	FUZ	ALDOA	LIG3	HSD17B4	HFE	LMX1B	MAP3K7	PIEZO2	GYG1	RAB18	RUSC2	FARSA	COL12A1	FUCA1	TYMP	CHST14	RRM2B	TRIM2	NPAP1	MAGEL2	NSD2	TBC1D20	STRADA	SNORD116-1	PANK2	PWAR1	SLC9A6	AKT1	FBN1
HP_RAGGED_RED_MUSCLE_FIBERS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RAGGED_RED_MUSCLE_FIBERS	MT-TF	MT-TL1	POLG	MT-TW	MT-ND6	MT-TK	MT-RNR1	SLC25A4	MT-CO2	PABPN1	MT-TH	RRM2B	MT-ND3	TWNK	MT-ND5	MT-TV	MT-TC	ALG2	SUCLG1	TYMP	MT-TS2	LIG3	CARS2	CHCHD10	MT-TL2	MT-TN	NDUFS4	SDHA	MT-CO1	GMPPB	DGUOK	COQ2	MT-TP	MT-TI	MT-ND1	TK2	DPAGT1	MT-CYB	MT-ATP6	SLC25A26	MT-ATP8	MT-ND2	GFPT1	MT-ND4	MT-CO3	SLC25A32	POLG2	EARS2	MT-TQ	MGME1	MT-TE	BCS1L	NEFH	AIFM1	SPG7	MYH7	MIEF2	ALG14	TRMU
HP_RHABDOMYOLYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RHABDOMYOLYSIS	TSFM	PYGM	CACNA1S	POLG	GABRA3	AMPD1	SLC12A3	HADHB	SLC25A42	PGK1	LDHA	TSEN34	PGM1	ACADVL	TSEN15	TRAPPC2L	LPIN1	KCNJ18	TSEN2	ANO5	SEPSECS	HADHA	RYR1	AMACR	SUCLG1	MT-CO1	TANGO2	ALDOA	DGUOK	PGAM2	SLC25A20	CTDP1	TSEN54	XK	PHKB	ATP5F1D	ISCU	CPT2	BCS1L	CLCNKB	MT-CO3	FDX2
HP_SKELETAL_MUSCLE_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKELETAL_MUSCLE_ATROPHY	LMNB2	TARDBP	SLC25A4	MYO9A	AGRN	TIMMDC1	PYROXD1	NALCN	B3GALNT2	MT-TE	STUB1	CHCHD10	EXOSC3	FBXO38	INF2	PMP22	DYSF	YARS2	ENTPD1	HSPG2	CHRNE	SPRTN	COL6A2	PDE8B	PIEZO2	ATXN1	JAG1	SELENON	MPZ	TGFB1	PNKP	NEFL	BIN1	RNASEH1	TPI1	IGHMBP2	FBLN5	BBS5	TRIP4	TBCD	PEX7	GARS1	SLC39A13	PHKB	PFKM	ALS2	PTEN	C19orf12	COLQ	CEP290	CHP1	LRSAM1	BICD2	CEP19	ASAH1	ADK	GDAP1	JPH1	BBS7	TPM3	SQSTM1	TIA1	RYR1	SH3TC2	FLNC	MT-ATP8	FUS	CDH23	RTN2	CAV3	KY	FKRP	TNXB	SYT2	TBK1	NIPA1	SGCG	COL6A3	NDRG1	TRAPPC11	CPLANE1	PRKACA	LMOD3	MRE11	DCTN1	ARMC5	ATXN3	RAB7A	GBA2	GNE	ALDH18A1	REEP1	MATR3	ERGIC1	COL12A1	FIG4	PIP5K1C	BAG3	CADM3	TRIM32	PRX	PIK3R2	PNPLA6	INSR	LEMD3	GBE1	FLRT1	DNM2	FKTN	MYPN	ATAD3A	SLC52A2	BMP1	PON3	VAPB	KIF1A	DGUOK	DHH	LMNA	STAC3	MKKS	RETREG1	SLC33A1	KCNK9	ERLIN1	ZFYVE26	COL13A1	NDUFA12	PDK3	PUS1	HSPB8	SMN2	SPTLC1	VPS13A	SIL1	KLHL41	ASCC1	SLC16A2	CRPPA	VWA1	C9orf72	SLC25A21	MYOT	STIM1	B4GALNT1	PHF6	FHL1	SPAST	TNR	ANXA11	EGR2	CCNF	POMT2	ACTA1	PGAP1	TTN	KLHL40	TRPV4	ANG	ITGA7	COG8	COL6A1	ATL1	PLXND1	NUP88	RPS6KA3	SGCA	UBQLN2	SVBP	MYOD1	PYCR2	AIFM1	TPM2	LITAF	RAI1	VCP	WASHC5	AP1S2	DOK7	CYP7B1	CNTNAP1	SDHA	LRP12	KBTBD13	KIF1C	SCN4A	NEB	LDB3	HNRNPA2B1	RAPSN	SUCLG1	WARS2	NEFH	CHMP2B	PSMG2	DES	CYP27A1	FKBP14	NEXMIF	SMPD1	LARGE1	CUL4B	EMD	PTRH2	POMT1	MCCC2	NDUFA9	SGCB	PFN1	ATXN2	MME	CHAT	MED25	MAG	MUSK	MFN2	MKS1	HNRNPA1	CHRNA1	AIP	MSTO1	CAPN3	GAN	TNNT1	TK2	EPHA4	PHKA2	DNMT3B	BVES	BSCL2	GNAS	SYNE1	COQ2	COL2A1	TTC19	SOX10	CFAP410	TMEM43	PRPH	SETX	VLDLR	TAF15	VAMP1	CEP126	SDHB	SPTBN4	CA8	LRP4	DNAJB2	KLC2	NOTCH2NLC	UBAP1	LZTFL1	VRK1	MORC2	AMPD2	DMD	ATM	POMGNT1	SMCHD1	DUX4	SCAPER	INPP5K	CD59	FAM126A	RBM28	PON2	BBS10	DHTKD1	ERCC8	SOD1	NOP56	CTLA4	LTBP4	AMPD1	PDE11A	WNK1	ERBB3	DCAF8	WDR81	SCYL1	SCN9A	PRUNE1	GPR35	BBIP1	MYH7	AARS1	BBS2	SCO2	ANO5	KIF1B	SPG11	WDPCP	TFG	SGCD	TTC8	ADSL	ABHD12	NDUFA8	FUZ	ERCC6	CCDC115	UNC13A	FITM2	AK9	TOE1	SMN1	MPV17	ARSI	HNRNPDL	UNC45B	SPART	SACS	COA7	HARS1	ACADSB	OPA1	DAG1	GIPC1	KANSL1	DNM1L	PLEC	LAMP2	FXN	MTMR2	ADSS1	NPPA	HINT1	KRT5	YY1	PRPS1	TCF4	SDCCAG8	IFT27	PEX5	SLC25A1	MAP3K20	ATP7A	GLE1	MTRFR	IFT74	USP8	SYNE2	NEU1	SALL4	RRM2B	PHKG2	SBF2	SPTLC2	TBCK	OGDH	SCN5A	SUCLA2	APTX	DARS2	TNFRSF1B	MYH3	AFG3L2	COL4A1	MDH2	CCT5	POMGNT2	CHRNB1	NDE1	AGL	FRG1	NAGA	GYG1	DALRD3	FGD4	TDP1	HEXB	GBF1	ACADM	SIGMAR1	ABCA1	ERLIN2	POLR2A	IBA57	SPEG	SLC46A1	YARS1	PON1	MECP2	SLC25A46	PNPLA2	ATP8A2	MYMK	SLC5A7	CPT1C	TCAP	KRT14	FLNA	EXOSC8	NEK1	GFPT1	REV3L	PLP1	POMK	ADARB1	DPM3	PRKAR1A	POLG	PPARGC1A	VPS13D	PLOD3	CAPN1	SEPTIN9	CFAP418	PHKA1	GJB1	B4GALT7	CHRNG	MYBPC1	SURF1	HSPB1	DNA2	SDHAF1	NDUFAF6	SDHD	ERBB4	PHYH	TTPA	C2orf69	ACTN2	STING1	MGME1	TREM2	IFRD1	IFT172	MYH14	FARS2	PNPT1	LIMS2	OPTN	TYMP	PSMB8	RXYLT1	HMGA2	BBS9	KLHL9	MT-TL1	AR	WRN	GMPPB	SNAP25	PAX7	TBCE	KAT6A	NEMF	PEX10	HUWE1	SLC12A6	MINPP1	CHRND	HK1	LAMB2	DYNC1H1	VMA21	CPT1A	PLEKHG5	NBN	TBC1D23	POLR3A	SLC7A7	COL7A1	DAO	ANTXR2	PEX6	MAFB	TUBB2B	FAM111B	CHN1	GLB1	BBS12	FBXL4	BBS4	ZC4H2	BBS1	SEMA4D	ATL3	KIF5A	KDM5C	GLT8D1	ACTB	ZBTB20	NDUFS4	COASY	CD28	SFXN4	SLC18A3	PYGM	SLC25A19	SLC9A6	NGLY1	FLVCR1	ARL6	UBA1	MST1	B4GAT1	AGTPBP1	CTNS	HSPB3	JAG2	CARS1	NPHP1	COG7	COMP	SLC52A3	MTAP	DNAJC19	NARS2
HP_IMPAIRED_OXIDATIVE_BURST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_OXIDATIVE_BURST	CYBA	NCF2	NCF1	CYBC1	CYBB	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	CLN5	CLN3	KCTD7	TPP1	CLN8	NDRG1	CLN6	DNAJC5
HP_DECREASED_ACTIVITY_OF_NADPH_OXIDASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_ACTIVITY_OF_NADPH_OXIDASE	CYBA	NCF2	NCF1	CYBB	NADK2
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	CLN5	CLN3	KCTD7	CLN8	CLN6	DNAJC5
HP_DECREASED_METHYLMALONYL_COA_MUTASE_ACTIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_METHYLMALONYL_COA_MUTASE_ACTIVITY	MMADHC	MMACHC	PRDX1	MMAA	MMAB
HP_DICARBOXYLIC_ACIDURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DICARBOXYLIC_ACIDURIA	ETHE1	ACADM	ABCD4	DHTKD1	SUGCT	ETFDH	ACAD9	MMAA	CD320	SUCLA2	HCFC1	MCEE	ACADVL	GCDH	LMBRD1	SLC25A1	L2HGDH	IDH2	POLG	MMAB	MMADHC	SUCLG1	MMACHC	SCO1	MMUT	TCN2	D2HGDH	CPT2	PRDX1	ACAD8	SLC25A20	ACSF3	NDUFS4	COX16	SLC52A1	DNAJC19	ACADS	ETFB	HADH	ETFA	IDH1	HMGCL	MLYCD
HP_GENERALIZED_AMYLOID_DEPOSITION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_AMYLOID_DEPOSITION	APOA1	B2M	CST3	LYZ	GSN	FGA
HP_HYPERGLUTAMINEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERGLUTAMINEMIA	OTC	COX16	ASS1	SLC7A7	ASL	NAGS
HP_OROTICACIDURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OROTICACIDURIA	ARG1	ASS1	SLC7A7	ASL	UMPS	SLC25A15
HP_ETHYLMALONIC_ACIDURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ETHYLMALONIC_ACIDURIA	SUCLG1	ETHE1	COX16	ETFDH	ETFA	ACADS	POLG	ETFB
HP_ABNORMALITY_OF_CHROMOSOME_STABILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CHROMOSOME_STABILITY	FANCM	ERCC4	FANCC	RAD51	PALB2	BLM	XRCC4	UBE2T	MAD2L2	FANCF	FANCA	ZBTB24	BRIP1	FANCG	FMR1	DNMT3B	BRCA1	FANCB	LIG4	SMARCB1	NBN	TMEM185A	TCN2	BAP1	SLX4	FANCD2	SUFU	SMARCE1	RFWD3	NF2	FANCL	FANCI	HELLS	ATM	BRCA2	XRCC2	TRAF7	TERT	PMVK	PDGFB	SMO	CDCA7	RNF168	MCM4	COX4I1	RMRP	RAD51C	FANCE	AKT1	RAD50	PIK3CA
HP_CHROMOSOMAL_BREAKAGE_INDUCED_BY_CROSSLINKING_AGENTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHROMOSOMAL_BREAKAGE_INDUCED_BY_CROSSLINKING_AGENTS	FANCD2	PALB2	BRIP1	FANCI	BRCA2	FANCE	FANCA	FANCC	FANCF	COX4I1
HP_DECREASED_METHYLCOBALAMIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_METHYLCOBALAMIN	MMADHC	LMBRD1	MMACHC	PRDX1	MTR	MTRR	MTHFD1	ABCD4
HP_HYPERNATREMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERNATREMIA	AVPR2	FGFR1	ARNT2	DSG1	SLC5A1	AQP2	SYK
HP_DECREASED_PLASMA_CARNITINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_PLASMA_CARNITINE	CPT2	COL7A1	ACAD8	SLC22A5	ACADM	DLD	SLC25A20	MMP1	EHHADH	SLC34A1	NDUFAF6	ACADVL	ACAD9	MT-TE	NADK2	HMGCL	HADH	SCO1	CTNS	GATM	TRMU
HP_HYPERMETHIONINEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERMETHIONINEMIA	AHCY	ADK	MAT1A	GNMT	SLC25A13	TTC37	FAH	CBS
HP_INCREASED_CIRCULATING_IGG_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_IGG_LEVEL	PGM3	IFNGR1	FASLG	NLRP1	TGFB1	IL2RG	CARD10	FAS	STING1	CASP10	CCND1	TPP2	NCKAP1L	PRKCD	RASGRP1	IL7R	CD247	PSMB8	IPO8
HP_EXTERNAL_GENITAL_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXTERNAL_GENITAL_HYPOPLASIA	PROM1	FKTN	INPP5E	NTNG2	AR	LHX4	TBCE	LZTFL1	B3GALNT2	GATA4	RTTN	CCDC28B	NDN	DPM2	STT3A	RAC3	COX7B	BBS4	OTX2	SNRPN	HSPG2	EXT2	DCAF17	CDH2	MED27	EIF4H	CTU2	PHGDH	FZD2	DYNC2H1	IRF6	NODAL	HSD3B2	BBS5	RAD51C	EBF3	RPL10	BRCC3	FAM111A	CEP290	WT1	CEP19	LRAT	FGFR1	STT3B	EMC10	HESX1	TOGARAM1	PHF21A	LMNA	SLC7A14	CILK1	PCARE	FRAS1	SC5D	IFIH1	RNU7-1	SMC3	SEMA3E	LHB	PTPN23	GNRHR	DUSP6	EHMT1	BBS7	PNPLA6	MBTPS2	TRIP12	CYP17A1	GMNN	HGSNAT	SOX2	CENPT	FREM2	COLEC10	POLR1D	HS6ST1	PTCH1	FANCB	WNT7A	SPTBN1	CDON	KDM6A	FBXW11	WDFY3	DDX6	ALMS1	C14orf39	ECEL1	DYNC2I1	TCF20	NIPBL	NSMF	MAGEL2	KCNA1	CRX	CEP41	BCORL1	RLIM	FGF8	METTL27	RNU4ATAC	KATNIP	NPAP1	DHCR7	SOX10	ARL6	PPP1R12A	ALOXE3	NDNF	DYRK1A	DISP1	MYT1L	FIG4	OCA2	GUCA1B	ZPR1	GLI2	DHDDS	PBX1	ARNT2	CERKL	ADAT3	RP1L1	RSPO2	KAT6B	RAD21	CHRM3	TRIM32	HCCS	ZFPM2	DCC	GLI3	FGFR2	ADAR	ELN	RAB3GAP1	C2CD3	DHODH	FSHB	LIG4	SRD5A2	FARSB	KMT2E	MEGF8	UBE3B	NR5A1	TACR3	FKBP6	NANOS1	LSM11	BRD4	RNF113A	RAB18	HPDL	FANCD2	AGBL5	OTUD5	MKKS	ERCC6	POLA1	SPRY4	WWOX	BUD23	ATP6V1A	GBA2	PMM2	PRCD	DNAJC30	GRIP1	TCF7L2	ARX	PNKP	PUS7	CYP11A1	SYNCRIP	SCN1B	VPS37D	POC1A	PHF8	CRPPA	TAPT1	AGO2	ARL2BP	CCNQ	DAZ3	PTDSS1	TCF4	PHF6	TP63	SALL1	SNORD115-1	SLC29A3	POMT2	B4GAT1	KISS1	TUBB	KLHL40	DVL3	CYB5A	PROK2	SHH	MAPRE2	ORC6	THOC6	KAT8	SEMA4A	SETD1A	ACTB	LEP	RNASEH2A	KIAA0753	PRPF31	ORC1	TSPY1	FKRP	GAS1	PROKR2	HDAC8	ORC4	PRPF3	RIPK4	FGF17	XRCC4	CPE	KDM4B	IFT140	CTCF	ISL1	RP1	UBR1	PSMD12	MTM1	TMEM216	ALG12	PRKCZ	TBX3	CDKL5	NECTIN1	TNRC6B	WDR11	LARGE1	CUL4B	LSS	MAMLD1	GHR	CDKN1C	RYR1	PRRX1	IFT88	FAM161A	XPA	DIS3L2	MYRF	KCNAB2	ERCC8	PDE6A	PIGQ	KLHL7	DHX38	WASHC5	TEX15	MNX1	MKS1	FBN1	ACTL6A	ROM1	UBR7	CUL7	RDH12	HERC1	SETBP1	PDPN	PRPF6	SRY	RAB23	ERCC4	GNRH1	ALX4	PAFAH1B1	XRCC2	CDC45	XPC	SNRNP200	HS2ST1	ANKRD17	RTL1	POR	SRCAP	GAD1	AXL	PROP1	NR0B1	SATB1	DDB2	SPEN	USP7	MAP3K1	CYP11B1	RAB3GAP2	TDGF1	GMPPB	RBP3	MEIOB	PRPH2	SAG	SATB2	KIAA1109	POU1F1	BAZ1B	MEG3	FMR1	SOHLH1	RHO	POMGNT1	ACTA1	SMO	TCTN3	SCAPER	INPP5K	BEST1	MAP3K7	EIF2S3	DCX	MERTK	BBS10	UBE2A	ARID1B	SYCP3	SIN3A	ROR2	FEZF1	CCDC22	SVBP	DMRT3	ZNF513	FANCM	HERC2	RP9	BBIP1	FSCN2	FANCF	TTC8	HOXA13	ERCC3	BBS2	WDPCP	WASF1	ANOS1	CLRN1	GPC4	TULP1	NSD1	B3GLCT	GRIA3	PEX1	CRB1	NEK1	ERCC2	TOE1	CLIP2	DHX37	GTF2IRD1	PNLDC1	SEMA3A	OGT	DVL1	KLHL15	ZMIZ1	CDC6	TRMT1	TWIST2	DPM1	LEPR	KIZ	GTF2I	NEK2	SOX3	SCN2A	EZH2	NCF1	DOCK3	DAG1	POLR1C	SDCCAG8	INTU	IMPG1	IFT27	ZMPSTE24	DNAJC19	CHD7	IFT74	ACTL6B	MADD	RNASEH2C	DAZ2	DPYSL5	GNAO1	REEP6	PLAG1	CHD4	SLC25A24	KDM5C	PTPN11	EED	SGPL1	MAPK8IP3	KCNMA1	ZEB2	ABCA4	BCL7B	MYH3	KIAA0586	COL4A1	MKRN3	BPTF	DDX3Y	SIX3	TDRD9	SPATA7	POMGNT2	MED12	FLRT3	ATRX	PRDM16	FANCL	NXN	TEX11	POMT1	LMNB2	CCDC32	FAT4	TBL1XR1	SMC1A	GPC3	CNGB1	SOX9	VAMP7	RERE	KCNJ6	IFT172	ZNF408	CA4	TRRAP	KLHL41	SMCHD1	SIL1	SLC12A2	RFC2	PDE6G	SMARCA2	RBMY1A1	BUB1B	ZIC2	GRIA4	HMGA2	BMP4	IMPG2	RGR	ERCC5	CDHR1	TGIF1	CCDC141	DMXL2	SIK1	FOXH1	TBC1D20	OFD1	POMK	EYS	GRM7	CTDP1	PRPF8	TCOF1	KISS1R	ZMYND15	KIF7	NEB	SLC39A4	ARHGEF18	CASK	ECE1	WNT5A	TUB	COG5	PDE6B	CFAP418	RNF2	FXR1	TEX14	NTNG1	CHRNG	TAC3	KLHL10	CNOT3	DLK1	PRKDC	CDT1	SYCE1	SNORD116-1	YWHAE	PQBP1	WDR35	MBD5	MOGS	LMOD3	MLXIPL	TSPYL1	USH2A	NEUROD2	SMAD4	MCTP2	MED13	NR2E3	RP2	LIMK1	CLCN3	IGF2	RXYLT1	IMPDH1	VAC14	ALOX12B	BBS9	IER3IP1	KMT2D	SIX6	UBE4B	LMX1B	ARCN1	ALKBH8	SUZ12	AHR	FOXA2	HOXD13	DAZ1	CDH11	HUWE1	DAZ4	BBS1	TANC2	IDH3B	RNASEH2B	DKC1	BCAS3	SAMD9	PALS1	GPR161	MMP23B	ATAD3A	RPE65	IL17RD	MCM8	STXBP1	SUFU	GNB2	DACT1	NRL	IDH3A	PORCN	TBL2	SRA1	RSPO1	PWAR1	TOPORS	ROBO1	SAMHD1	TRIM8	THOC2	BBS12	ANK1	STAG1	POLE	TMEM270	DYNC2I2	HTT	SIM1	STX1A	MAK	KIAA1549	NDUFB11	OPHN1	RPGR	ARL3	CASZ1	POLR1B	CNGA1	LMBRD2	PIEZO2	MINPP1	GTF2IRD2	ESR2	CFTR	UBA1	LUZP1	PWRN1	B9D2	LHCGR	PEX6	PIGA	GABRD	SKI	PRPF4	IFT80	USP9Y	DLL1	TAF4B	NPHP1	RLBP1	PIGP	TRAPPC4	SLC25A22	TREX1	JARID2	AHI1
HP_OVERGROWTH_OF_EXTERNAL_GENITALIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVERGROWTH_OF_EXTERNAL_GENITALIA	CAVIN1	INSR	PPARG	KCNQ1OT1	KCNQ1	CDKN1C	BSCL2	FOS	CAV1	IGF2	AGPAT2
HP_MALE_INFERTILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALE_INFERTILITY	HYDIN	TGFB1	TSPY1	ZMYND10	ARMC2	AR	SRY	DRC1	CCDC40	FCGR2A	M1AP	VAMP7	PMFBP1	CATIP	DNAH5	ZFPM2	BRAF	NR0B1	TEX11	CCDC39	STK36	TERB1	DNAAF5	GATA4	RNF212	SOX9	DNAAF11	DZIP1	DNAAF2	SPAG1	ODAD1	MAP3K1	DNAL1	TTC12	CCNO	CFTR	STRC	NR5A1	RBMY1A1	CFAP298	FOXJ1	DNAAF4	AURKC	AMHR2	DNAI2	ODAD4	PPP2R3C	LRRC56	GAS8	RPGR	RSPH4A	MNS1	DNAH10	GCM2	RSPH1	DNAAF3	DNAH9	CCDC65	DNAI1	OFD1	BLM	WT1	WWOX	DAZ1	CFAP70	CFAP47	IFT74	GALT	CATSPER2	CEP112	DAZ4	DAZ2	FANCA	SPEF2	AMH	DNAH1	C14orf39	DNAH8	CYP17A1	DMRT3	ACTL9	RSPH3	MCIDAS	CLDN2	PTPN11	XRCC2	GAS2L2	MAP2K1	PNLDC1	CCDC103	CFAP300	DAZ3	RSPH9	STAG3	KLHL10	CFAP65	ODAD2	DDX3Y	SPAG17	CFAP52	CTNS	DNAAF1	NEK10	ADGRG2	LHCGR	ODAD3	TTC29	DHX37	TERB2	SYCP2	SUN5	SPATA16	USP9Y	CYP19A1	DNAH2	DNAJB13	DNAH11	CATSPER1	NME8	CFAP58	CFAP221	DNAAF6	DNAH17
HP_ABNORMALITY_OF_DNA_REPAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_DNA_REPAIR	MPLKIP	GTF2E2	ERCC4	ERCC2	GTF2H5	FANCC	TARS1	FANCD2	XPC	ERCC5	ERCC6	DDB2	FANCE	FANCA	XPA	ERCC3	RNF113A
HP_ABNORMALITY_OF_THE_COAGULATION_CASCADE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_COAGULATION_CASCADE	AKR1D1	HSD17B10	SERPINC1	PROC	RINT1	CYP7B1	SLC25A13	BCOR	F7	CFH	MGAT2	EPB42	BRAF	ALG8	DPM1	DPM2	STAT3	ITGB3	F2	MPI	NR1H4	RARA	XIAP	HAVCR2	DDOST	MICOS13	NGLY1	SEMA4D	OSTM1	ATP6V0A2	SOS1	PET100	SERPINE1	ITGA2B	TCF4	SLC4A1	F8	LMAN1	GFI1B	F13B	GNE	NLRC4	CD46	F12	PML	COG4	FGG	VWF	ALG12	NBEAL2	SRD5A3	MPDU1	STAT5B	SLC30A10	HELLPAR	LZTR1	AHCY	COX16	PROS1	RFT1	B4GALT1	CFI	RYR1	MCFD2	NABP1	VKORC1	COG2	FGA	EFL1	GP1BB	PRF1	DPAGT1	F9	PMM2	ALG6	HMGCL	MCM10	SERAC1	SPTB	FGB	GNA14	F10	STX11	IKZF5	HSD3B7	HLA-DQA1	NUMA1	SLC37A4	TFAM	PRKAR1A	PTPN11	GPR35	PGM1	ATP6V1A	MAP2K1	ATP6V1E1	LYST	MST1	GP9	TBL1XR1	CACNA1S	UNC13D	STXBP2	SSR4	GP1BA	F13A1	GGCX	HLA-DQB1	SLC25A15	IRF2BP2	MTTP	F5	PLG	AGA	ANO6	NPM1	COG8	NBAS	FIP1L1	ANK1	AMACR	TRMU	FLNA	SOS2	ALDOB	SPTA1	F11	ACAD9	SLC7A7	LARS1	BCS1L	HADH	ZBTB16
HP_INCREASED_CIRCULATING_IGA_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_IGA_LEVEL	PGM3	TNPO3	FASLG	NLRP1	MVK	WAS	CARD10	FAS	STING1	CASP10	IL12RB1	OTULIN	IRF5	SPIB	CCND1	PRKCD	IL12A	IKBKG	RASGRP1	IL7R	TNFSF15	CD247	MMEL1	PSMB8	POU2AF1
HP_SMOOTH_MUSCLE_ANTIBODY_POSITIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMOOTH_MUSCLE_ANTIBODY_POSITIVITY	FASLG	CD247	COL4A6	ITCH	CASP10	FAS	COL4A5
HP_NEONATAL_HYPERBILIRUBINEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_HYPERBILIRUBINEMIA	KCNN4	SLC35A2	TSHR	PAFAH1B1	GPX1	DUOX2	DUOXA2	SPTA1	SLC4A1	TSHB	SLC5A5	UGT1A1	FBP1	TPO	CPOX	UBE2A	IYD	GYPC	IGF1	TG	PIEZO1	EPB41	SPTB
HP_ABDOMINAL_DISTENTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABDOMINAL_DISTENTION	TRIP11	BRCA1	FSHR	RTL1	TNPO3	SAR1B	ZEB2	MYL9	EPCAM	DDRGK1	INSR	MTOR	HMBS	NPHS1	EPB42	CYP27B1	PRKCSH	LIPA	MESP2	TMEM251	MNX1	G6PC1	MYH11	NKX3-2	SI	SMARCAL1	CYP2R1	ARSA	TSHR	DYNC2I2	TREH	SLC4A1	RET	GNPTAB	MMEL1	PSMB8	COL2A1	LIG3	LMOD1	TTC26	SLC26A2	NKX2-5	KRT18	STX3	SLC2A2	DLL3	SLC9A3	PAX8	SPP1	IRF5	SPIB	ALG8	MEG3	IL12A	PYGL	RRM2B	SEC63	SMPD1	MYLK	ACTG2	IRAK1	KRT8	KAT6A	VDR	FOXE1	LBR	SPTB	STAT4	ITGA6	GBA	FLNB	IFT122	PSAP	SLC5A1	COL11A1	HLA-DQA1	GNE	POLG	EWSR1	SLC37A4	IL12RB1	TTC7A	ATP1A2	INPPL1	ALAD	SLC26A4	SPINT2	ATP1A3	FBN1	CACNA1A	TNFSF15	SLC1A3	BMPER	IPO8	DYNC2I1	PTH1R	ITGB4	HLA-DQB1	LRP5	SLC26A3	PLEC	FLNA	EPHB4	FREM2	DLK1	MYO5B	ANK1	NKX2-1	TRMU	FLI1	IFT80	ALDOB	SPTA1	TCTN2	DYNC2H1	TYMP	WT1	IFT52	POLG2	KIAA0753	COL11A2	DYM	POU2AF1	C2orf69	WDR35
HP_HIP_CONTRACTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIP_CONTRACTURE	ERGIC1	MYH3	NALCN	LGI4	APC2	GARS1	SELENON	RNU4ATAC	ITGA7	UNC80	ERLIN2	KAT6B	PI4KA	SLC26A2	SETD2	TTN	SPEG	SLC10A7	TPM2	RYR1	HSPG2	HACD1	FKBP10	FBN2	F8	BICD2	TNNT1	MMP2	BIN1	ZBTB20	MAP3K7	MYLPF	PIGY	TELO2	MYL2	GNB2	MAP3K20	PTH1R	UBA1	PNPT1	TPM3	HS2ST1	COL2A1	ACTA1	SLC6A9	NSD1	ZC4H2	TRPV4	P4HTM	GNPTAB
HP_NARROW_PELVIS_BONE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_PELVIS_BONE	BGN	PCNT	POR	PTH1R	RSPRY1	IDUA	BMPER	FGFR2
HP_LOW_ALKALINE_PHOSPHATASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_ALKALINE_PHOSPHATASE	SLC39A4	BCR	ALPL	CEBPE	LIPA	PIGK	ABL1	PIGS	PIGT
HP_CYSTATHIONINEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CYSTATHIONINEMIA	LMBRD1	MMACHC	CTH	PRDX1	MTHFR
HP_SPINA_BIFIDA_OCCULTA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPINA_BIFIDA_OCCULTA	MYH3	MLXIPL	GTF2IRD2	PTPN11	COLEC10	DARS1	ZIC1	FLNB	RECQL4	IRF6	VPS37D	ELN	FUZ	BRAF	BMP2	BCL7B	TMEM270	GTF2I	TBC1D24	CCNQ	NCF1	KCNH1	VANGL2	CCL2	RFC2	HES7	IKBKG	MASP1	LFNG	LIMK1	EIF4H	RORA	RUNX2	LIG4	AMER1	FLNA	CUL7	PUF60	RIPPLY2	CHRNG	ACTB	EP300	FKBP6	B3GLCT	STX1A	MAP3K7	FIBP	POLA1	NSUN2	TBXT	COLEC11	RAF1	HMX1	BAZ1B	ARID1B	VANGL1	RAB23	WBP11	MESP2	PORCN	METTL27	TBL2	CLIP2	TNXB	CREBBP	NOTCH2NLC	SALL4	BUD23	NEK9	GTF2IRD1	CCBE1	TBX6	DNAJC30	MAFB	CHN1	ATP6V1B2	DLL3	DACT1
HP_OVOID_VERTEBRAL_BODIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVOID_VERTEBRAL_BODIES	UBE3B	COL2A1	ARSB	POP1	B3GALT6	NAGLU	HGSNAT	GNS	PCYT1A	SBDS	SMARCAL1	GALNS	KCNJ8	FBN1	IHH	GLB1	ABCC9	MATN3	NPR2	SLC35D1	MIR140	TBX15	DNAJC21	FN1	SGSH	GNPTAB	COMP	LTBP3	SRP54
HP_IRREGULAR_VERTEBRAL_ENDPLATES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRREGULAR_VERTEBRAL_ENDPLATES	CHST3	KIF22	RNU4ATAC	TNFRSF11A	ZBTB20	PAPSS2	COL10A1	EXOC6B	TRAPPC2	PDE4D	COL9A2	CCN6	COL9A1	COL11A1	GNPAT	LOXL3	TCIRG1	SLC10A7	NANS	B3GALT6	GORAB	COL2A1	ACP5	SLC29A3	IDH1	COL9A3	EIF2AK3	COMP	SLC39A13	MMP13	POLR3A
HP_SPONDYLOLISTHESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPONDYLOLISTHESIS	KANSL1	TGFB3	RUNX2	MAN2B1	LMX1B	AGA	TGFBR2	CTSK	COL2A1	MYH3	PABPN1	SMAD3	ZNF469	TGFB2	FBN1	IDUA	BMP2
HP_SPONDYLOLYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPONDYLOLYSIS	CTSK	RUNX2	LMX1B	FLNA	AGA	FLNB
HP_SPINAL_RIGIDITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPINAL_RIGIDITY	COL12A1	TTN	SYT2	SELENON	MYO9A	AGRN	NEB	PYROXD1	TMEM43	INPP5K	ERLIN2	BAG3	KLHL41	CAPN3	COL13A1	LMOD3	CHAT	COL6A1	CFL2	LMNA	POMT1	MGME1	ACTA1	COL6A3	CAVIN1	VAMP1	FHL1	HSPG2	POMT2	KY	DYSF	ORAI1	COL6A2	COL2A1	FKTN	MYPN	MYBPC1	KBTBD13	TOR1AIP1	SYNE1	SLC25A1	SLC5A7	JAG2	TPM2	TRIP4	DES	MYH7	SLC18A3	SYNE2	SNAP25	ACVR1	EMD	TPM3	TNPO3
HP_HYPERLORDOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERLORDOSIS	CANT1	RERE	MLXIPL	TRAPPC11	TPM2	COLEC10	DDRGK1	DAG1	COMP	CAPN3	KANSL1	VCP	PLEC	LMNA	FLNB	GTF2I	KLHL41	NCF1	HSPG2	MMP13	DYSF	ALG2	CTSK	SMARCAL1	FGFR3	LIMK1	NPR2	RYR1	MATN3	EIF4H	FGFR2	VPS33A	SELENON	COL11A2	TFAP2A	TGFB1	SATB2	MYPN	BICD2	BGN	XYLT1	BIN1	POP1	GNPTG	HNRNPA2B1	AMER1	MAP3K20	ACTA1	TWIST1	RSPRY1	NSDHL	OBSL1	TPM3	SYNE2	NECTIN1	COL6A2	EMD	TOGARAM1	CRKL	LAMA2	POMT1	TBX6	MFN2	ITGA7	INPP5K	TRAPPC2	POMT2	SHOX	LMOD3	IHH	COL1A2	GFPT1	SGCG	RMRP	SLC10A7	BCL7B	COLQ	FHL1	KY	MTMR14	COL2A1	PPM1D	TONSL	FKRP	KNSTRN	PLEKHG5	GMPPB	PPP1R15B	PIK3C2A	ACAN	MYBPC1	ECEL1	MYH7	CUL7	HACE1	SETD5	HERC1	FUCA1	SOX5	KIF1A	CCN6	MYL2	FRG1	GNB2	DNMT3B	NAA10	GLB1	ALX3	MAPK1	COL12A1	RAB3GAP1	METTL27	TBL2	ITCH	SMCHD1	NEB	BCOR	RAB3GAP2	AP1G1	ALG14	COL10A1	TMEM43	POMGNT1	ADAMTS10	GALNS	SPEG	ELN	VPS13B	TMEM270	CAVIN1	RFC2	ACP5	DYM	SCN4A	SYT1	SGCA	CHST3	FKBP6	STX1A	DNM2	COLEC11	BAZ1B	CSGALNACT1	RETREG1	SON	DUX4	TRPV4	POMK	BUD23	L1CAM	COL6A3	DPAGT1	DMD	DNAJC30	PRKG2	HNRNPA1	GARS1	BCR	GTF2IRD2	CLCF1	WNK1	PCGF2	HNRNPH2	NF1	CCDC8	VPS37D	SCN9A	TTN	CFL2	DNA2	IARS2	LMX1B	TRPS1	MED12	PIK3CD	TOR1A	HACD1	MASP1	FN1	FBN1	TFE3	EIF2AK3	SYNE1	ZC4H2	ARSB	FKTN	SLC26A2	COL6A1	CLIP2	PIEZO2	EXTL3	GTF2IRD1	RET	POLR3GL	NOTCH3
HP_CERVICAL_SUBLUXATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVICAL_SUBLUXATION	COL2A1	IDUA	MMP2	GALNS	ARSL	GLB1	MADD	DDR2	FLNB	RMRP
HP_ABNORMALITY_OF_THE_ODONTOID_PROCESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ODONTOID_PROCESS	COL2A1	BGN	FGD1	ARSB	DYM	DKK1	TRAPPC2	DLL3	RAB33B	LONP1	COMP	GALNS	GLB1	HES7	RMRP	MESP2	NFIX	DDR2	FLNB	LFNG	TRPV4	EXTL3	FLNA	AIFM1	NMNAT1	COG4	IDUA	FN1	EIF2AK3	GNPTAB	GUSB
HP_HYPOPLASIA_OF_THE_ODONTOID_PROCESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_ODONTOID_PROCESS	COL2A1	BGN	FGD1	ARSB	DYM	TRAPPC2	RAB33B	LONP1	COMP	GALNS	GLB1	RMRP	NFIX	DDR2	FLNB	LFNG	TRPV4	EXTL3	AIFM1	COG4	IDUA	FN1	EIF2AK3	GNPTAB	GUSB
HP_ABNORMAL_FORM_OF_THE_VERTEBRAL_BODIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FORM_OF_THE_VERTEBRAL_BODIES	SMAD4	EXOC6B	DDRGK1	SFRP4	TRPV4	ABCC9	AGA	FBN1	TCIRG1	FGFR3	GTF2I	SUMF1	NCF1	HSPG2	ARSL	PIEZO2	TMEM67	EIF4H	NELFA	MMP13	COL2A1	SERPINF1	LETM1	COL11A2	FGFR1	TWIST1	CHRNG	RSPRY1	SLC39A13	DDR2	DMP1	LBR	CHD7	GORAB	SALL4	SLC29A3	PTCH2	SEMA3E	CHST3	SLC25A24	ACAN	MBTPS2	FANCC	NAGLU	SOX2	SBDS	FKBP10	SMARCAL1	CPLX1	COL10A1	RMRP	SLC10A7	BCL7B	COG4	CCL2	TONSL	WNT7A	USP8	DHX37	SGSH	IDH1	SMOC1	NEPRO	FUCA1	SOX5	PDE4D	HDAC6	CCN6	IFITM5	CEP120	GLB1	JAG1	CSPP1	PLOD2	OBSL1	KIAA0586	METTL27	RNU4ATAC	MAP3K7	COL1A2	NSD2	GLE1	COL11A1	STAG2	TMCO1	DVL1	AKT1	FLNA	RPL13	ATP7A	ATP6V1B2	IKBKG	MESP2	ENPP1	KDM6A	LONP1	EXTL3	GALNS	GLI3	KYNU	TMEM251	ELN	ERF	TENT5A	SPARC	MAN2B1	RFC2	INPPL1	LTBP3	BMP1	UBE3B	RIPPLY2	KIF22	FKBP6	AHI1	PAM16	CEP104	COL9A2	CLCN7	RUNX2	XYLT2	OTUD5	CSGALNACT1	RPS19	RAI1	SON	CTBP1	BUD23	PMM2	ZBTB20	CDK10	DNAJC30	ATRX	FLNB	MRPS28	DLL3	FLI1	TNFRSF11A	PPIB	MADD	FLII	PLOD3	PTH1R	LRP5	VPS37D	LOXL3	DEAF1	GUSB	WNT5A	TAPT1	PTCH1	CBS	CCDC8	MKS1	DNAJC21	FN1	SLC26A2	THPO	EIF2AK3	ADA	FUZ	ARL13B	CFAP410	ARSB	DYM	PAPSS2	SKI	DLK1	GPX4	VANGL1	COL1A1	WBP11	TBX2	PYCR1	RPS6KA3	TRIP11	ACP5	ACVR1	LRP4	SERPINH1	CEP41	IDH2	OCRL	TCTN2	NOTCH3	CANT1	PIGG	RINT1	MLXIPL	SUFU	PLEKHM1	RAD21	PLOD1	COMP	ROR2	FIG4	TBC1D24	APC	LIMK1	NPR2	FGFR2	PRKAR1A	HSPA9	GNPTAB	ANTXR1	WNT1	BGN	XYLT1	PEX7	POP1	PIBF1	CPLANE1	SIX6	SGMS2	HES7	TCTN1	CSF1R	CYP27A1	FANCB	CDH11	ALPL	NOTCH2	SEC24D	TBXAS1	ORC1	SC5D	FZD2	TRAPPC2	POR	IHH	GNPAT	SF3B4	COG1	LFNG	NANS	B3GALT6	WASHC5	VANGL2	PPP1R15B	AIP	IFT43	HAAO	SRP54	MIA3	NF1	CUL7	TMEM237	SOST	B9D1	ALG12	HGSNAT	TBXT	MATN3	TBL2	ITCH	COL9A1	NOTCH2NLC	MPL	COL9A3	UFSP2	MAFB	CHN1	RTL1	DHCR7	FGFRL1	SLC35D1	GNS	HHAT	TMEM270	VDR	ANKRD11	TBX6	FOXF1	P3H1	AIFM1	NMNAT1	INPP5E	KATNIP	CBY1	B3GAT3	STX1A	MYH3	RAB33B	PCYT1A	DVL3	PLCB3	BAZ1B	MEG3	PUF60	EBP	NEU1	MIR140	KDELR2	IDUA	P4HB	PRKG2	GTF2IRD2	CCDC22	SEC23A	HYLS1	ARMC9	KCNJ8	KMT2D	GJA1	TBX15	ARL3	PTEN	MMP2	IPO8	POLR3A	MMP14	B3GLCT	SH3PXD2B	NEK1	EIF5A	IQSEC2	CLIP2	GTF2IRD1	CAPN15
HP_BUTTERFLY_VERTEBRAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BUTTERFLY_VERTEBRAE	WBP11	KMT2D	COG1	ARSL	SC5D	TBX6	SOX5	FOXF1	ALG12	KDM6A	RIPPLY2	SOX2	STAG2	SIX6	OTUD5	CSGALNACT1	IPO8	HAAO
HP_ABNORMALITY_OF_THE_CERVICAL_SPINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CERVICAL_SPINE	RAF1	SMAD4	TGFB3	COMT	UNC80	EXOC6B	MECP2	DDRGK1	GATA1	SRCAP	RB1	XYLT1	BRAF	MGAT2	ABCC9	NKX3-2	KLHL41	ACTB	HSPG2	ARSL	EBP	ROR2	FBN2	RYR1	SOS1	HDAC4	TOR1A	PIGW	RPL18	IDUA	SATB2	SDCCAG8	INTU	ERCC2	COL2A1	MMP2	IFT27	LIFR	GNPTG	PTPN22	CANT1	MAN1B1	COL11A2	MYLPF	PRMT7	GLE1	TECPR2	BBS5	RSPRY1	CHRNG	GDF6	DDR2	IFT74	OBSL1	CEP290	CEP19	ESCO2	SALL4	MYO18B	SLC26A2	AP5Z1	TBX6	LARGE1	DVL3	SMC3	CHST3	PHGDH	BBS7	TBCK	PTPN11	NALCN	ERCC1	SMARCAL1	AEBP1	MEOX1	LMOD3	WDR35	MED13L	SKI	RPL27	SMC1A	KIAA0586	TGFBR1	RIT1	FANCB	WNT7A	HRAS	TCF4	DHX37	ACAN	FAM20C	LHX3	RPL35A	KCNN3	RPS10	ECEL1	OTX2	RPS26	NIPBL	PSAT1	FUCA1	GPKOW	BRF1	SCYL2	ATRX	POGZ	RPS15A	MRPL12	FANCL	SEMA5A	SMAD3	PIGN	NXN	POU1F1	SLC2A1	POMT1	RNU4ATAC	CREBBP	TRIP11	COL6A2	COL11A1	FHL1	TMCO1	DVL1	DYRK1A	TBL1XR1	ALG9	FTO	HBA1	PKDCC	GPC3	MESP2	FGD1	RPL15	TPM2	ADAT3	PIK3CD	RAD21	TRIM32	GNAS	GALNS	ACTA1	TBX1	LHX4	INPPL1	PTPN2	BUB1B	RIPPLY2	PAM16	BRD4	SMPD4	BMP4	CLDN11	PGAP2	XYLT2	GDF3	MKKS	RPS19	TRPV4	MICU1	TGDS	NBAS	MSL3	BMPER	FLNB	CHRND	MRPS28	DLL3	CD96	FLI1	KCNH1	IGBP1	MADD	RPS24	SOX9	GUSB	WNT5A	CRLF1	CFL2	PPP1CB	EP300	TAPT1	ADA2	FGFR1	COG5	CCDC8	ANKRD55	FN1	IL2RA	WAC	CFAP418	THPO	WNT4	TRAPPC9	EXOSC9	PALB2	RDH11	ANTXR2	PGAP1	B3GLCT	PSMD12	DLK1	UBE2A	MAPRE2	TAF1	CHRNA1	IL2RB	TBX2	STX16	NUP88	OTUD6B	GP1BB	ATP6V1B2	YWHAE	TNNT3	AMMECR1	FGFR2	NOTCH3	APC	FKRP	DONSON	HDAC8	COMP	RIPK4	NRAS	SNRPN	IFT172	C2CD3	SPRED1	MEGF8	ACTG1	VPS33A	HSPA9	TFAP2A	NUP188	RPS17	RPS7	PUF60	PROP1	BBS9	RPS28	POP1	ALDOA	CTDP1	CDK5	NF1	FANCI	RPL35	FGFR3	LZTR1	KNSTRN	LMX1B	PIGL	ARVCF	RPL5	SHOX	FOXA2	CDH11	NOTCH2	HPDL	UFD1	EMD	RMRP	IDH1	COL6A1	RPS27	HESX1	GPX4	FZD2	HIRA	TRAPPC2	PPP1R15B	SHOC2	TBX15	RPS20	CBL	COG1	PIGV	MYH3	NANS	COL6A3	B3GALT6	WASHC5	MKS1	SMS	LFNG	CD247	DSE	NBN	CUL7	SETBP1	ERCC6	STXBP1	GLB1	MUSK	SEC24C	MAPK1	NEB	MPL	PAFAH1B1	MAFB	DYM	CHN1	RTL1	AFF3	DHCR7	SLC35D1	GNS	TNNI2	BBS12	DCC	DPYD	POLE	MAP2K1	BPTF	BBS4	NEK9	BBS1	AIFM1	GMPPB	GPC6	LZTFL1	B3GAT3	OFD1	PGAP3	TALDO1	KIFBP	TUBB	RAB33B	COL12A1	PIGY	ALG8	HBA2	GZF1	DOK7	MEG3	RAB23	RFT1	EFNB1	RPL11	CHST14	KRAS	MAN2B1	HS2ST1	SCAPER	ANKRD11	MIR140	ERMARD	ERCC5	BBS10	RPL26	CUL4B	NLRP1	GATA4	HTRA1	PIEZO2	JMJD1C	CCDC22	GLI2	ARL6	PIGO	KCNJ8	BBIP1	TRMT10A	MED12	BBS2	PTCH1	HES7	CCN6	WDPCP	INTS1	MAP2K2	TTC8	TBR1	GPC4	ZC4H2	POLR3A	POMT2	RPL31	CTNND2	PIGA	ROBO3	KIF7	SF3B4	STAT4	RPS29	SOS2	TSR2	NPHP1	TCTN2	COG7	RREB1	IDS	EXTL3	CEP55	BGN
HP_C1_C2_SUBLUXATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_C1_C2_SUBLUXATION	COL2A1	IDUA	MMP2	ARSL	MADD	DDR2
HP_PROGRESSIVE_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_MUSCLE_WEAKNESS	POLG	SELENON	COL12A1	TBCK	LTBP4	ITGA7	TRAPPC11	SIL1	MT-TE	GIPC1	PLEC	PEX1	PEX11B	PEX14	TTN	SPEG	PCNA	RYR1	DYSF	PEX10	YARS2	ACTA1	PEX13	PEX3	TWNK	MYOT	HACD1	ANO5	CRYAB	PEX12	NEB	POLG2	NOTCH2NLC	PRPS1	PEX26	PNPLA2	TNNT1	TPM2	BIN1	DMD	PEX19	TK2	PHKA2	PEX2	MT-TL2	MT-TN	TPI1	LDB3	MYH7	GGPS1	MYL2	COL6A1	DES	MAP3K20	PHKB	COQ2	VAPB	TPM3	ABHD5	PEX6	COL6A2	MT-TL1	PYGM	COL6A3	DOLK	PEX5	MIEF2	PHKG2	PUS1	PEX16
HP_GENERALIZED_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_MUSCLE_WEAKNESS	CFAP410	ACY1	PLOD1	TPM2	CRPPA	MYO9A	PRPH	YY1	AGRN	HADHB	NEB	SLC12A1	MYL2	CAPN3	VCP	PLEC	TAF15	TREM2	CAVIN1	VAMP1	PON1	PLA2G6	SOD1	ORAI1	RANBP2	COA8	SDHB	FKTN	HADHA	SDHA	ATXN2	OPTN	FGF23	SLC25A4	MORC2	GLT8D1	SLC25A1	SLC16A2	PON3	SLC5A7	LDB3	TTN	COL12A1	KCNJ1	DSE	CHMP2B	HTT	GLE1	FIG4	ACTA1	TPM3	SELENON	FXYD2	MEN1	ATP13A2	KLHL41	SLC18A3	COLQ	SNAP25	HNRNPA1	COL13A1	CLCNKB	NEK1	PON2	MYL1	COL6A1	MTM1	PFN1	SLC2A3	CNNM2	GAA	PPARGC1A	ITGA7	CHRND	FUS	SYT2	CHCHD10	POLG	LAMB2	RYR1	PRRT2	ABCB6	MYH2	POMT1	CCND1	POMGNT1	POMT2	CHAT	DMD	DNAJB6	AIFM1	C9orf72	EGF	MYH7	COL6A3	FKRP	HACD1	AARS2	CHRNA1	NEFH	TBK1	ANXA11	CCNF	LMOD3	EPHA4	TK2	PNKD	DCTN1	ANG	DAO	UNC13A	MAP3K20	SDHAF1	UBA1	PIGN	SQSTM1	SLC12A3	SDHD	ACAD9	VAPB	COL6A2	ERBB4	TARDBP	UBQLN2	MATR3
HP_LIMB_GIRDLE_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_GIRDLE_MUSCLE_WEAKNESS	DYSF	COL12A1	FKRP	CHRND	MYO9A	AGRN	MT-TE	VCP	FRG1	RRM2B	POMT1	ACTA1	SGCB	KLHL41	DOK7	COL6A2	TRIM32	VAMP1	CHRNE	ALG2	PSAP	LRP4	GMPPB	TTN	PNPLA2	OPA1	MORC2	TPM2	SLC25A1	SCN4A	RYR1	SLC5A7	LDB3	TWNK	GYG1	MYH7	SMCHD1	CRPPA	LMNA	ANO5	PHKB	SLC18A3	CRYAB	TPM3	ABHD5	DNAJB6	SNAP25	COL13A1	POLG	COL6A1	COL6A3	DPAGT1	BICD2	LARGE1	TNPO3	LRIF1	SELENON	ITGA7	SYT2	FLNC	PLEC	LMOD3	CHAT	GFPT1	CFL2	DNA2	MATR3	GALC	MUSK	HACD1	CHRNA1	MYOT	GDAP1	DGUOK	POMT2	SLC25A4	CHRNB1	POLG2	MYL2	BVES	MAP3K20	AK9	DAG1	GNE	RAPSN	NEB	MTAP	HNRNPDL	SGCA	DPM3	ALG14
HP_MYALGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYALGIA	IL12A-AS1	COMT	TRAPPC11	IL12A	SLC25A4	BIN1	OPA1	STING1	MT-TE	IRF4	HLA-B	LPIN2	DNM1L	SDHA	RRM2B	DYSF	LBR	TRIM32	CTLA4	HSPG2	NLRP3	HADHA	RYR1	SCN4A	DNAL4	PGAM2	TBX1	IGKC	CHCHD10	MSTO1	EXT1	RNASEH1	HADHB	PTPN22	MYH7	ERAP1	TWNK	MT-TK	DSE	CAV3	APC	MYF6	EXT2	AMPD3	DCC	ANO5	PHKB	ARVCF	MTMR14	TNXB	UFD1	CLCNKB	POLG	RAD51	MT-CO3	CPT2	MLX	STAT4	UBAC2	STIM1	PHKG2	FDX2	PYGM	MVK	SLC12A3	MDM4	NTN1	MEFV	HIRA	FLNC	PGK1	LDHA	CLCN1	ACADVL	KY	HLA-DPA1	FKRP	CD247	SCN9A	ALMS1	P4HA2	PHKA2	CCR1	POLG2	LMNA	BVES	CASQ1	SPTA1	CAPN3	SEC24C	ACAD9	ALDH4A1	SVIL	ENO3	PRDM5	CRPPA	ACADM	DNM2	AMPD1	EPB42	COX6B1	CAVIN1	TLR4	FMR1	MYOT	DNASE1L3	FKTN	IL10	VCP	RBCK1	SLC4A1	ALDOA	NLRC4	TET2	TNFRSF1A	PNPLA2	PTPN2	ASXL1	OTULIN	IGHG2	LPIN1	TMEM126B	ZNF469	IL12B	SPTB	JMJD1C	CNBP	HLA-DRB1	PPARG	IFNGR1	DMD	POMT1	NLRP12	DNA2	VWA1	MATR3	C4A	SRSF2	ORAI1	PRTN3	MT-TL1	CCDC78	CR2	ANKRD55	NOD2	IL2RA	SH3TC2	MT-CO1	PHKA1	HLA-DPB1	KLRC4	DGUOK	POLR3A	MTTP	TK2	LMNB1	LEMD3	CTNNB1	ANK1	PDGFRA	IL2RB	IL23R	HPDL	RREB1	GLA	GP1BB	FAS	ADA2	ACP5	MIEF2	KIT
HP_AXIAL_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AXIAL_MUSCLE_WEAKNESS	POMT2	BICD2	NEB	SELENON	LMOD3	COL12A1	FKRP	TTN	BIN1	KLHL40	MT-TL2	MT-TN	LAMB2	TPM2	LMNA	COL6A1	DES	CFL2	KLHL41	MYH7	ACTA1	RYR1	COLQ	POMT1	GMPPB	CRYAB	COL6A2	MT-TL1	UNC45B	COL6A3	LARGE1	MYBPC1	SPEG
HP_ABNORMAL_HAIR_LABORATORY_EXAMINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HAIR_LABORATORY_EXAMINATION	PEX6	MPLKIP	TTC37	CDH3	TP63	GJA1	SPINK5	GTF2H5	ASL	TARS1	RNF113A	BCS1L	SKIV2L	KRT85	TGM3	PEX1	ERCC3	WRN	TCHH	GTF2E2	HEPHL1	NECTIN1	NECTIN4	ERCC2	LMNA	ST14	KRT25	CLCN6	HRURF	PADI3	GAN	DSG4
HP_ABNORMAL_BONE_STRUCTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BONE_STRUCTURE	ELN	FAM111A	OFD1	TBCE	DDRGK1	EED	CDKN2B	NDN	MGAT2	DPM2	GPC3	TRPV3	AGA	FAH	HRAS	TCIRG1	NKX3-2	FANCC	SNRPN	PEX3	HSPG2	EXT2	PDE8B	DCAF17	FBN2	EIF4H	CYP27A1	UNC45A	RUNX2	TGFB1	ZMPSTE24	ERCC3	FANCF	ERCC4	TTC26	FANCD2	MALT1	LIFR	KRAS	TWNK	LMNA	CTSK	CHRNG	SALL4	GNAS	RSPRY1	BMS1	IL12A	PYGL	LRP5	CTC1	SLC39A13	AGPS	RPL10	PHKB	NSDHL	DMP1	STIL	CCN2	LBR	LRP6	GORAB	WT1	FGFR1	NHP2	POLG	ATP6V0A4	PHF21A	MITF	TG	ATP7A	RNU7-1	CHST3	GNRHR	SDHD	HPGD	HSD3B7	IL12RB1	CLCN5	B4GALT7	NLRP3	SMARCAL1	STAT3	CASR	CDH23	AEBP1	CPLX1	SDHC	POLR1D	EHHADH	MAD2L2	HBB	FANCA	ALG3	HS6ST1	SKI	PEX6	TONSL	WNT7A	KNSTRN	CHEK2	ELANE	COPB2	LAMB3	TJP2	SGSH	SRP54	IDH1	FAM20C	SLC34A3	NDUFAF1	GJA1	LEMD3	RTEL1	IL1RN	DYNC2I1	CD96	FLNA	PRKACA	PEX12	DUSP6	NSMF	UROS	MAGEL2	PSMC3IP	ARMC5	HDAC6	TARS1	POLG2	WDR62	SMS	WDR35	CSPP1	SEMA5A	CTNNB1	PLOD2	ESR1	FGF8	METTL27	NPR2	SLCO2A1	NPAP1	AKT1	DHCR7	SOX10	TGFBR2	TRIP11	CEP57	CYP17A1	PEX16	USF3	FIG4	POU2AF1	OCA2	GATM	PLOD1	ENPP1	PIK3CD	LONP1	SLC12A1	ZFPM2	GALNS	DCC	COL2A1	WNK1	TENT5A	GBA	SPARC	AP2S1	CIT	NGLY1	LHX4	FARSB	CDC73	FGF23	MC4R	MCPH1	COL1A1	BMP1	SIK3	MGP	SLC26A2	PEX26	TERT	FKBP6	GCM2	TSHR	PCCB	SOST	PIGL	IRF5	GLIS3	RETREG1	ATP8B1	ERCC6	WWOX	KLLN	BUD23	TERC	ANAPC1	NPHP3	ZNF469	PMM2	FANCE	DNAJC30	COL1A2	SLC34A1	RNU4ATAC	WDR19	SNX10	CYP11A1	PEX14	TSPAN12	PYCR2	SOX9	CCND1	VPS37D	POC1A	GUSB	MATN3	SATB2	TAPT1	PTCH1	IARS2	SDCCAG8	PTDSS1	GGCX	CBS	PIGT	DNAJC21	THPO	EIF2AK3	SNORD115-1	PIGU	SLC29A3	KISS1	ANTXR2	TRIP13	LMX1B	PIK3CA	CYB5A	PROK2	PTEN	MMP14	IFIH1	TAF1	PRDM5	ORC6	XRCC2	HNRNPK	STX16	GLA	ACVR1	ANO5	PYCR1	ADCY10	GJB2	BRCA1	PORCN	HLA-DRB1	TNFRSF11A	SERPINH1	IDH2	OCRL	IQCB1	CANT1	AKR1D1	PIGG	EFL1	BMP15	ALDH18A1	FLNB	GFI1	COMP	IFT122	FGF17	TSHB	G6PC1	ASAH1	CTCF	AIFM1	CEP164	CTBP1	DDOST	LAMA3	OSTM1	THRB	ANTXR1	PRKAR1A	ALG12	STX3	PEX7	EXT1	DCHS1	HNRNPA2B1	AMER1	CTDP1	CTNS	GALNT3	GPAA1	MAFB	KNL1	SEMA3E	BMPR1B	NOTCH3	ABCC9	FKBP14	WDR11	SMPD1	ALPL	VDR	SEC24D	CTSC	RAB3GAP1	ORC1	GPX4	HLA-DQA1	MDM4	PDGFRB	SLC37A4	CRIPT	METTL5	PALB2	ERCC8	SLC10A1	IHH	NPM1	AGPAT2	COG1	SLC39A14	CLCN7	FANCG	AIP	GDF5	NF1	GNA11	SETBP1	PHKA2	HGSNAT	GSC	TNFRSF11B	TBXAS1	DUOXA2	NUP107	COL3A1	ELP1	NAB2	FSHR	ALX4	ERCC2	TET2	MRPS22	MPL	TRIM37	SRY	TRPV6	IGF1	CEP290	PDE4D	RTL1	AFF3	RUNX1	PEX1	MBTPS1	SLC35D1	HSD17B4	PROP1	AVP	PEX11B	RSPO2	KIAA0586	MAP3K1	B3GALT6	PTH1R	DYM	SQSTM1	PRLR	FKBP10	RB1	NR5A1	CAV1	PEX5	SLX4	RECQL4	ANKH	ASXL1	PIGY	ASXL2	CDKN1B	POU1F1	TRPV4	BAZ1B	MEG3	TP53	DLL4	HGD	MAN2B1	SLC4A1	EBP	NOTCH2	MIR140	MFSD2A	RMRP	CRTAP	ELMO2	HTRA1	SYK	ATP6V0A2	ATL3	FLRT3	PDE11A	PLEKHM1	SEC23A	TRAPPC2	FOS	DMRT3	CBL	CEP152	NOP10	DUOX2	KCNJ8	HERC2	UBE2T	HESX1	SCN9A	UNC80	GPR35	HOXA13	PEX2	FBLN5	GEMIN4	ALG9	SLC35A2	FBN1	TNFSF15	HLA-DQB1	CTNND2	HBG1	MAP3K7	RFWD3	TINF2	RPL11	SLC5A5	CA2	CDKN2C	SLC7A7	CLIP2	NCAPD3	SH3PXD2B	COX4I2	GTF2IRD1	GJB6	GLI3	ADAMTSL2	PERP	TNPO3	WNT1	POF1B	DKC1	RAD51	BRAF	SFRP4	LPIN2	GTF2I	NCF1	ARSL	MMP13	PEX19	TCF4	NELFA	MED12	CDKN1A	POLR1C	GPC4	CEP63	INTU	MPLKIP	MMP2	LETM1	COL11A2	NDNF	DDR2	CHD7	USP8	GTF2E2	NFIX	STAT1	NEU1	GALT	FANCL	COL5A2	VCP	SMAD3	PTCH2	PHKG2	COL9A3	CAVIN1	TBCK	NAGLU	FUT8	SBDS	BNC1	BUB1B	SLC10A7	MTX2	PLEC	BCL7B	B2M	KIF1A	IYD	NPHP4	MKRN3	OTX2	SLC17A5	NPHP1	SLC25A4	POLD1	CCN6	PIGV	IFITM5	MAP2K1	KIF14	CYP3A4	VPS53	ATP7B	HBG2	NSD2	GLE1	FZD4	FANCB	FAT4	SNRPB	ARL6IP6	ZNF408	FANCI	PLS3	SCARB2	AGXT	MBTPS2	TACR3	PDLIM4	PEX10	VAMP7	SPIDR	EXTL3	PSAP	NR0B1	USB1	CENPJ	RFC2	CCR6	INPPL1	SMARCD2	PROKR2	TREM2	SRC	KIF22	FERMT3	SLC2A2	IRX5	KCNJ1	KL	SPIB	HFE	ABCC6	XYLT2	PHEX	CYP2R1	CCDC141	ZBTB20	RAD51C	BMPER	TCOF1	KISS1R	STAT6	DLX3	TMEM67	BMP2	PPIB	PAPPA2	UROD	PLOD3	MEN1	CALCR	PCCA	SASS6	SRSF2	ADAMTS2	HHAT	HAMP	DHCR24	BUB1	FN1	DKK1	PEPD	MTTP	TAC3	BSCL2	DLK1	BRCA2	DYNC2H1	ANKLE2	SNORD116-1	RIN2	MLXIPL	SUFU	VPS35L	LRP4	ASPM	RRM2B	TYROBP	BTNL2	LIMK1	SPRY4	PISD	SLC39A8	GNPTAB	MMEL1	HMGA2	VAC14	BGN	CEP135	IER3IP1	XYLT1	ITGB4	NRAS	APC	LARS2	HJV	STN1	KCNH1	FEZF1	SGMS2	CSF1R	WRN	PPARG	CDK6	FOXA2	TRPS1	RNF125	TMEM38B	DPAGT1	ZNF699	SC5D	LHX3	GNPAT	SEMA3A	SAMD9	LAMC2	LFNG	SP7	IFT43	MIA3	NAGA	TNFSF11	IL17RD	KLF1	GTF2H5	SLC34A2	TMEM165	TRAPPC14	ANOS1	GLB1	KIF7	WNT3A	BUB3	TBL2	PWAR1	WNT3	PARN	UFSP2	NT5E	FANCM	SEC23B	COL10A1	LRRK1	FGFRL1	MTRR	ADAMTS10	GK	CYP27B1	SLC9A3R1	POLE	GATA4	TMEM270	BRIP1	POLR3H	ACP5	SEMA4D	P3H1	PEX13	HNF4A	INVS	DYNC2I2	HECW2	B3GAT3	SETD2	SIM1	NDUFAF6	SLC25A24	STX1A	ALB	PLCB3	P4HB	GZF1	MMP1	RNF113A	POLR1B	COL7A1	KDELR2	BAAT	USP9X	GNRH1	HNRNPA1	TAF13	GTF2IRD2	ESR2	GLI2	SH3BP2	SLC25A19	NDP	TRMT10A	SOX3	BANF1	MST1	TPO	IKBKG	IFT52	PWRN1	COL5A1	POLR3A	FGFR2	PHC1	GATA1	DHX37	WRAP53	CDK5RAP2	CREB3L1	IFT80	CYP19A1	LEMD2	SDHB	PRKG2	TRAF3IP1	MTAP	KIT
HP_ABNORMAL_ENCHONDRAL_OSSIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ENCHONDRAL_OSSIFICATION	CANT1	SUFU	DDRGK1	VPS35L	FLNB	SOX9	COMP	GPC3	TSHB	INPPL1	NKX3-2	FIG4	ABCC6	PEX3	HSPG2	ARSL	EBP	CTBP1	PISD	THRB	COL2A1	PRKAR1A	VAC14	GPC4	BGN	PROP1	XYLT1	PEX7	COL11A2	KCNH1	DDR2	AGPS	BMPR1B	LBR	NEU1	ALPL	VDR	RMRP	SLC26A2	PTCH2	TG	PEX1	COL9A3	ORC1	GPX4	CLCN5	LHX4	LHX3	SBDS	IHH	SLC10A7	LFNG	PEX16	B3GALT6	PEX6	PEX19	TONSL	IYD	SRP54	DYNC2I1	GDF5	CD96	PEX12	GJB2	SLC34A2	GSC	PIGV	DUOXA2	CSPP1	LEMD3	POU1F1	KIF7	ESR1	DHCR7	NSD2	TRIP11	NSDHL	WNT3	SNRPB	UFSP2	PDE4D	RTL1	RUNX2	COL10A1	MBTPS1	CPLX1	FGFRL1	SLC35D1	LONP1	PEX10	EXTL3	CYP27B1	PEX11B	RSPO2	NFIX	KIAA0586	PTH1R	DYM	CYP2R1	PEX13	DYNC2I2	PEX5	CHST3	MGP	KIF22	PEX26	SETD2	FLNA	TSHR	TRPV4	MEG3	MIR140	BMPER	ENPP1	RNU4ATAC	PEX14	TRAPPC2	SLC34A3	DUOX2	HESX1	GUSB	MATN3	PTCH1	LETM1	HOXA13	PEX2	TPO	GGCX	DNAJC21	EIF2AK3	FGFR2	DLK1	IFT80	CYP19A1	SLC5A5	ORC6	DYNC2H1	GJB6	WDR35
HP_IMPAIRED_LYMPHOCYTE_TRANSFORMATION_WITH_PHYTOHEMAGGLUTININ	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_LYMPHOCYTE_TRANSFORMATION_WITH_PHYTOHEMAGGLUTININ	JAK3	MYD88	MCM10	WAS	IL2RG	RMRP	MGAT2	ZAP70	KLHDC8B
HP_DECREASED_CIRCULATING_RENIN_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_RENIN_LEVEL	HSD11B2	KCNJ5	CACNA1D	CYP17A1	AVPR2	CYP11B1	NR3C2	SCNN1B	SCNN1G
HP_AMINOACIDURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMINOACIDURIA	PRODH	PREPL	SLC6A20	ARG1	SLC6A19	SLC34A1	ASL	ABCD4	SLC36A2	DHTKD1	CTH	FAH	CYP27B1	ETFDH	DDB2	GPHN	HCFC1	LMBRD1	CTNS	COA8	SLC25A13	NGLY1	GALE	CYP2R1	MMADHC	CAMKMT	GUCY2D	MMACHC	HNF4A	PET100	NAGA	MTHFR	SUCLA2	PRDX1	SLC7A9	CASR	SLC2A2	NDUFAF6	FH	PCCB	UMPS	ALDOB	DGUOK	ERCC5	GSS	PEX5	HAL	OCRL	SLC35A1	FTCD	ETFB	GRHPR	HGD	SLC19A2	CLCN5	NEU1	CPS1	MARS1	OPLAH	NFS1	MCCC2	GLYCTK	GCLC	MT-TN	CLTRN	AASS	MTR	XPA	GALT	OAT	SLC3A1	RRM2B	IVD	PCCA	TRPV6	GATM	EHHADH	SLC6A18	ERCC3	TRNT1	PEX1	CBS	GEMIN4	SURF1	MOCS2	MTRR	TNFRSF11A	DMGDH	ACADM	SLC7A7	ALDH4A1	TK2	SLC1A1	SPINK5	PPM1B	AMT	ASPA	TNFRSF11B	ALDH5A1	PLOD2	ATP7B	ERCC4	ERCC2	ETFA	KYNU	MOCS1	HIBCH	BCS1L	FARS2	OTC	GLDC	XPC	SARDH	GCSH
HP_INCREASED_VLDL_CHOLESTEROL_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_VLDL_CHOLESTEROL_CONCENTRATION	LPL	APOA5	LDLRAP1	UBR1	LCAT
HP_ARTHRALGIA_OF_THE_HIP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTHRALGIA_OF_THE_HIP	SLC26A2	COL9A2	B2M	COL2A1	COMP	COL9A1	MATN3	TRAPPC2	COL9A3
HP_ABNORMAL_FEMORAL_NECK_HEAD_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FEMORAL_NECK_HEAD_MORPHOLOGY	CANT1	IFNGR1	COL2A1	EFL1	RINT1	TGFB3	EXOC6B	RAD21	DDRGK1	EED	COMP	XYLT1	MGAT2	COL1A2	ABCC9	RBM8A	TSHB	FLNB	TCIRG1	NKX3-2	HSPG2	ARSL	SMARCAL1	MEGF8	GLB1	HSPA9	COL11A2	UNC45A	RUNX2	TGFB1	MMP13	BGN	PROP1	PEX5	SERPINF1	POP1	EXT1	GNPTG	ZMPSTE24	EXT2	RSPRY1	LRP5	SLC39A13	LMX1B	ARCN1	DMP1	ACAN	SHOX	CREBBP	TRPS1	MMP9	CRKL	TREX1	LMNA	CDC6	TG	CHD4	COL9A2	ORC1	SLC12A2	FZD2	LHX4	B4GALT7	LHX3	SBDS	TRAPPC2	IHH	COL10A1	SLC10A7	COG1	NANS	COG4	B3GALT6	TONSL	ERCC6	IYD	FN1	CTC1	PIK3C2A	COL11A1	COL9A3	SRP54	FUCA1	FLNA	IFT140	GJB2	PDE4D	STXBP1	CCN6	DUOXA2	CSPP1	ARID1B	MAPK1	POU1F1	DNAJC21	COL9A1	RPS6KA3	DVL1	DYM	PRG4	RPL13	ATP7A	RTL1	AFF3	COL1A1	ENPP1	UFSP2	EXTL3	GALNS	TMEM251	KIAA0586	CCDC47	SIL1	FKBP10	NGLY1	AIFM1	ATP6V0A2	COG8	FGFR3	CHST3	KIF22	BMPR1B	TSHR	RAB33B	PCYT1A	DVL3	SLC26A2	SRCAP	OTUD5	CSGALNACT1	MEG3	RAB23	TRPV4	MAN2B1	HS2ST1	MIR140	INPP5K	ADAMTSL2	KDELR2	TRAF3IP1	LBR	GTF2E2	IDUA	CRTAP	ATRX	SLC2A10	PCNT	RNU4ATAC	TMEM67	BCR	MTX2	PLOD3	DUOX2	POC1A	KCNJ8	HESX1	WNT5A	MATN3	EP300	TBX4	TPO	PTH1R	ADAMTS2	SLC35A2	EIF2AK3	NFIX	CFAP410	EZH2	DLK1	IFIH1	SLC5A5	ORC6	GJB6	TRIP11	RET	ACVR1	GLI3
HP_ABNORMAL_FEMORAL_NECK_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FEMORAL_NECK_MORPHOLOGY	CANT1	RTL1	COL2A1	AFF3	TGFB3	RUNX2	COL10A1	EXOC6B	COL1A1	ENPP1	RAD21	DDRGK1	EED	UFSP2	COMP	XYLT1	MGAT2	EXTL3	GALNS	COL1A2	ABCC9	RBM8A	TMEM251	FLNB	TCIRG1	NKX3-2	CCDC47	SIL1	COL9A1	HSPG2	IHH	FKBP10	NGLY1	AIFM1	MEGF8	ATP6V0A2	RSPRY1	COG8	FGFR3	TGFB1	MMP13	PIK3C2A	CHST3	BGN	KIF22	PEX5	SERPINF1	BMPR1B	POP1	EXT1	RAB33B	PCYT1A	DVL3	ZMPSTE24	SLC26A2	EXT2	OTUD5	CSGALNACT1	MEG3	RAB23	SLC39A13	LMX1B	ARCN1	DMP1	TRPV4	MAN2B1	SHOX	MIR140	INPP5K	ADAMTSL2	KDELR2	FLNA	MMP9	CRKL	GTF2E2	LMNA	IDUA	CRTAP	ATRX	SLC2A10	PCNT	CHD4	COL9A2	ORC1	SLC12A2	TMEM67	BCR	FZD2	TRAPPC2	MTX2	B4GALT7	SBDS	POC1A	KCNJ8	WNT5A	MATN3	SLC10A7	COG1	RNU4ATAC	NANS	COG4	B3GALT6	TBX4	ATP7A	PTH1R	ADAMTS2	TONSL	CCN6	ERCC6	DNAJC21	FN1	SLC35A2	CTC1	EIF2AK3	COL11A1	NFIX	COL9A3	SRP54	CFAP410	EZH2	FUCA1	IFT140	GJB2	PDE4D	STXBP1	DLK1	GLB1	IFIH1	ARID1B	MAPK1	ORC6	RPS6KA3	GJB6	TRIP11	DVL1	ACVR1	DYM	PRG4	GLI3	RPL13
HP_ABNORMAL_FEMORAL_HEAD_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FEMORAL_HEAD_MORPHOLOGY	IFNGR1	EFL1	RINT1	B3GALT6	COL1A1	UFSP2	COMP	EXTL3	COL1A2	COL2A1	TSHB	KIAA0586	SIL1	SMARCAL1	DYM	AIFM1	CANT1	RSPRY1	GLB1	HSPA9	COL11A2	UNC45A	CHST3	PROP1	KIF22	PEX5	POP1	CREBBP	TSHR	GNPTG	RAB33B	DVL3	SLC26A2	SRP54	SRCAP	SLC39A13	ACAN	HS2ST1	INPP5K	ADAMTSL2	TRAF3IP1	TRPS1	TREX1	IDUA	CDC6	TG	SLC2A10	RNU4ATAC	FZD2	TRAPPC2	MTX2	LHX4	LHX3	SBDS	PLOD3	DUOX2	TRPV4	IHH	HESX1	WNT5A	MATN3	COL10A1	EP300	TBX4	TPO	ATP7A	ADAMTS2	TONSL	CCN6	DNAJC21	FN1	IYD	PIK3C2A	EXT1	IFT140	DUOXA2	CSPP1	POU1F1	SLC5A5	PCNT	COL9A1	DVL1	RET
HP_STEPPAGE_GAIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STEPPAGE_GAIT	TDP1	SPTLC1	SPTLC2	COA7	HARS1	POLG	GBF1	TIA1	NEB	LMNA	EGR2	ATP1A1	PRX	DCAF8	GRIN2A	PMP2	NEFL	ADSS1	INF2	PMP22	MPZ	SQSTM1	SCO2	MFN2	KIF1B	ATL3	FHL1	VCP	SLC25A46	TTN	MARS1	IGHMBP2	HSPB3	GAN	CLIC2	COX6A1	MTTP	KARS1	KLHL9	ATL1	HSPB1	MYH7	PDK3	DHH	GDAP1	RAB7A	MTRFR	GNE	SLC30A10	LRSAM1	GNB4	HINT1	SBF2
HP_AXONAL_DEGENERATION_REGENERATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AXONAL_DEGENERATION_REGENERATION	LMNA	MPZ	SLC12A6	MFN2	GDAP1	LRSAM1	GBF1	RAB7A	KIF1B
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	JPH1	VPS13A	DHH	MPV17	RAI1	SH3TC2	POLG	LMNA	SCN9A	SPTLC1	PRX	MME	RETREG1	PLEKHG5	ELP1	WNK1	MPZ	APTX	KIF1A	MFN2	FLRT1	SPG11	TFG	DNM2	KIF1B	DNMT1	PMP22	GDAP1	LIG3	GAN	NEFL	NTRK1	MTRFR	SACS	RAB7A	TYMP	RRM2B	GJB1	TRIM2	NGF	KLC2	FGD4	HK1	SBF2	EGR2	HSPB8
HP_HYPERTROPHIC_NERVE_CHANGES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTROPHIC_NERVE_CHANGES	MPZ	PRX	PMP22	LITAF	EGR2	GDAP1
HP_ONION_BULB_FORMATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ONION_BULB_FORMATION	NEFL	SBF1	COX6A1	FIG4	SACS	PMP22	GBF1	LITAF	SH3TC2	PRX	DCAF8	GDAP1	PMP2	MPZ	INF2	MTRFR	LMNA	GJB1	MFN2	FAM126A	DNM2	GNB4	KIF1B	ARHGEF10	PRPS1	SLC12A6	FGD4	EGR2	NDRG1	SBF2
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	APTX	NEFL	TYMP	RRM2B	SACS	SH3TC2	POLG	LMNA	SPTLC1	MME	PLEKHG5	HK1	GDAP1	LIG3	ELP1	HSPB8	PRX
HP_EASY_FATIGABILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EASY_FATIGABILITY	CHRND	SLC25A4	MYO9A	AGRN	CHRNE	NEB	PYROXD1	BAG3	CHRNB1	SNAP25	MUSK	RRM2B	POMT1	MGME1	RYR1	DOK7	VAMP1	PRKAR1A	ALG2	SDHB	SDHA	LRP4	TGFB1	DNAL4	LIG3	MYPN	PNPLA2	SYT2	TPM2	SLC25A1	SCN4A	CDH23	SLC5A7	MAP3K20	CALR	TWNK	DNM2	GMPPB	DCC	HNRNPK	SLC18A3	COLQ	MICU1	TPM3	FKBP14	TMEM126B	COL13A1	POLG	RAD51	GFPT1	DPAGT1	MPL	AGK	SELENON	ITGA7	LAMB2	TDP2	NTN1	CASQ1	RAPSN	CHAT	MTMR14	STIM1	HACD1	JAK2	LDHA	AIP	CHRNA1	TET2	SURF1	CCN6	POLG2	MEN1	MYL2	SDHAF1	GTPBP3	AK9	TYMP	SDHD	ACTA1	ALG14
HP_SENSORY_AXONAL_NEUROPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SENSORY_AXONAL_NEUROPATHY	AIFM1	ATP13A2	MORC2	POLG	ATL3	SHMT2	PRICKLE1	HNRNPA2B1	CTSD	LMNA	PLEKHG4	TWNK	CAPN1	CCT5	MFN2	XRCC4	FGF14	PIEZO2	FXN	VCP	PLD3	NEFH	COX20	HINT1	TK2	SYNE1	ACOX1	KLC2	DHX16	HNRNPA1	GJC2	DGUOK	GAN
HP_GOWERS_SIGN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GOWERS_SIGN	DPM3	COL12A1	TPM3	CHKB	TPM2	GATM	PYROXD1	SYNE1	INPP5K	GFPT1	DAG1	PNPLA8	RAPSN	VMA21	PLEC	TTN	MUSK	SGCG	SPEG	DNA2	POMGNT1	POMK	RYR1	SGCB	TRIM32	NEFL	ALG2	ACTA1	CFL2	ACBD5	SELENON	CHRNE	SECISBP2	SGCD	TRAPPC11	MYPN	PNPLA2	BICD2	SGCA	TK2	BIN1	TRPV4	MSTO1	FKTN	GMPPB	POMGNT2	COL6A1	DOK7	ORAI1	LAMA2	MICU1	DNAJB6	ASAH1	COL6A2	CHRNA1	UNC45B	COL6A3	POMT1	DPAGT1	DMD	ALG14
HP_FIRST_DORSAL_INTEROSSEI_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FIRST_DORSAL_INTEROSSEI_MUSCLE_WEAKNESS	CACNA1A	JAG1	GARS1	PRRT2	ATP1A2	REEP1	BSCL2	SCN1A
HP_THENAR_MUSCLE_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THENAR_MUSCLE_ATROPHY	BSCL2	SPG11	NEB	COMP	PDK3	PLOD3	GARS1	REEP1	SLC39A13
HP_MUSCLE_SPASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_SPASM	GABRA3	TRAPPC11	PRPH	COL4A1	ATP1A1	CHCHD10	GARS1	TRPM6	FBXO38	PARK7	WASHC5	RRM2B	PFKM	LAMP2	TREM2	FLVCR1	ALG2	ATXN3	TFG	PINK1	MT-ATP6	HADHA	HINT1	OPTN	ATXN1	CHRNE	CACNA1S	LRP12	PGAM2	HADHB	MAP3K20	TWNK	CAV3	NEFH	CHMP2B	GLE1	FIG4	OPA3	AMPD3	PYGL	LAMA2	PHKB	GNA11	KPNA3	NEFL	LRRK2	GMPPB	AR	CLCNKB	POLG	ACADVL	KY	DNAJC13	MT-CO3	CPT2	COL5A2	FAR1	STIM1	PHKG2	FDX2	PFN1	TRPM7	PYGM	CYP17A1	SLC12A3	CASR	DLD	PGK1	LDHA	GFPT1	GNAS	RTN2	KCNJ18	FKRP	TBK1	DNAJC6	SLC25A4	PMP22	EPHA4	PHKA2	DCTN1	PODXL	POLG2	DAO	DOK7	ATXN2	CASQ1	PIGG	ALDH4A1	SVIL	CARMIL2	REEP1	ALG14	MATR3	CFAP410	SNCA	CRPPA	GBF1	SLC16A1	PRKN	ACADM	AMPD1	CADM3	HHAT	SLC12A1	VCP	TAF15	PON1	SOD1	KCNA1	FKTN	SCN4A	VPS13C	MORC2	UBAP1	COL1A1	GLT8D1	PON3	GLA	KCNJ1	MYH7	GBA	RYR1	MICU1	HNRNPA1	NEK1	PON2	HSPB1	DPAGT1	SMN2	PPARGC1A	FUS	ABCB6	DMD	POMT1	GIGYF2	HTRA2	DNA2	GFM2	MPZ	C9orf72	ORAI1	LPIN1	EIF4G1	VPS35	SYNJ1	SH3TC2	MT-CO1	ANXA11	BSCL2	CCNF	DGUOK	COL5A1	ANG	UCHL1	UNC13A	MFN2	ALDH18A1	SQSTM1	VAPB	ISCU	HPDL	STX16	SMN1	ERBB4	TARDBP	UBQLN2
HP_SYRINGOMYELIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYRINGOMYELIA	NFIA	FUZ	ACY1	SETD2	RUNX2	DKK1	CCNQ	NRAS	EXT1	CREBBP	RAI1	NOTCH3	SH2B1	EXT2	LEMD3	EP300	DDR2	FBLN1	TBX6	FOXF1	NOTCH2	KDM1A	ABCA1	CTNNB1	HMGA2
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	CFAP410	FKRP	CHRND	MYO9A	PRPH	AGRN	ACADM	NEB	CHRNE	PLEC	GIPC1	VCP	TAF15	RYR1	TREM2	ACTA1	KLHL41	DOK7	VAMP1	PON1	SOD1	ALG2	COA8	NGLY1	ATXN2	OPTN	LRP4	CHAT	MYPN	GMPPB	KBTBD13	TPM2	GLT8D1	SLC25A1	DPAGT1	SCN4A	RNASEH1	PON3	SLC5A7	LDB3	CHMP2B	CACNA1S	GLE1	FIG4	KCNK9	USP8	SLC18A3	COLQ	TPM3	SNAP25	HNRNPA1	COL13A1	NEK1	PON2	GFPT1	MT-CO3	HINT1	LARGE1	STIM1	ALG14	MINPP1	PFN1	SELENON	MTM1	PPARGC1A	ITGA7	DKK1	FUS	SYT2	CHCHD10	LAMB2	TFG	POMT2	FLNC	CASR	CDH23	LMOD3	CFL2	C9orf72	ORAI1	MUSK	LPIN1	HACD1	CHRNA1	NEFH	RRM2B	TBK1	MT-CO1	ANXA11	NOTCH2NLC	CCNF	GNA11	EPHA4	CHRNB1	DCTN1	SLC34A2	ANG	MYL2	DAO	CASQ1	DES	UNC13A	MAP3K20	KCNE3	AK9	SQSTM1	RAPSN	POMT1	TOE1	ACAD9	VAPB	ERBB4	TARDBP	UBQLN2	MATR3
HP_PARESTHESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARESTHESIA	PTPN22	IL12A-AS1	CALR	MPL	LIFR	IL12A	POLG	YY1	CACNA1A	SLC12A1	SLC2A1	GNAS	AIP	HLA-B	SCN4A	MLH3	TLR4	GABRG2	TGFBR2	NPRL2	IL10	ATXN1	VCP	KIF5A	LIG3	MSH2	TNFRSF1A	KRAS	PMS1	GLA	ERAP1	KCNJ1	CTDP1	SLC26A2	THPO	ATL1	OPA3	MFN2	PDCD1	MEN1	MLH1	CUBN	TET2	GNA11	NEFL	RRM2B	MTHFR	PMP22	CLCNKB	KRT5	TK2	HMBS	GALC	HINT1	STAT4	UBAC2	ATP1A2	GNA14	GPR101	JAK2	PRNP	HLA-DRB1	SLC12A3	TRAPPC2	UROD	IFNGR1	MEFV	CASR	SPTLC2	MSH6	SBF2	CCND1	RPS20	SCYL1	VWA1	ALAD	C4A	SH2B3	GBE1	BMPR1A	SEMA4A	TP53	GRIN2A	FAN1	KLRC4	KRT14	P4HA2	LMX1B	UROS	NAGLU	EPCAM	CCR1	GATA1	SLC19A2	DEPDC5	PMS2	NAGA	NPRL3	IL23R	SCN1A	TYMP	SEPTIN9	HPDL	STX16	PRRT2	PIK3CA	HLA-DQB1	COMP	APP	FAS	SRPX2	CBLIF	SERPING1
HP_DECREASED_MINIATURE_ENDPLATE_POTENTIALS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_MINIATURE_ENDPLATE_POTENTIALS	DOK7	RAPSN	MUSK	CHRND	CHRNB1	CHRNE	SCN4A	AGRN	CHRNA1	LRP4	CHAT	COL13A1	AK9
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	CHRND	BIN1	CHRNB1	DPAGT1	NOTCH2NLC	SCN4A	CHRNE	LAMB2	GFPT1	GMPPB	TTN	CHRNA1	SPEG	ALG14	AK9	RYR1	DOK7	COLQ	RAPSN	MUSK	ALG2	AGRN	LRP4	CHAT	COL13A1	SYT2
HP_DISTAL_SENSORY_IMPAIRMENT_OF_ALL_MODALITIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_SENSORY_IMPAIRMENT_OF_ALL_MODALITIES	SPTLC2	ATL1	RNF170	HINT1	DHH	CCT5	HK1	NAGA	MFN2	SPTLC1
HP_PROXIMAL_FEMORAL_METAPHYSEAL_IRREGULARITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_FEMORAL_METAPHYSEAL_IRREGULARITY	KIAA0586	COL10A1	CSPP1	SRP54	TRPV4	CFAP410	DNAJC21	SBDS
HP_ATLANTOAXIAL_ABNORMALITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATLANTOAXIAL_ABNORMALITY	GATA1	CHST14	DYM	ARSL	B3GALT6	DSE	COMP	FKBP14	GNPTAB	COL2A1	NFIX	DDR2	POLR3A
HP_ATLANTOAXIAL_DISLOCATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATLANTOAXIAL_DISLOCATION	DSE	CHST14	COMP	GNPTAB	B3GALT6	NFIX
HP_SPINAL_CANAL_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPINAL_CANAL_STENOSIS	IDUA	IDS	TTR	HSPG2	TBCE	ENPP1	SPEN	RERE	KCNAB2	ADAMTS10	KANSL1	AIP	IARS2	KIAA0586	LUZP1	ARSL	PHF6	NOG	FBN1	PRKAR1A	FGFR3	MMP23B	PHEX	PDPN	PRKCZ	RIPPLY2	PRDM16	GABRD	SKI	RRAS2	CSPP1	UBE4B	PDE4D	DMP1	CASZ1	EXTL3	AKT1	GPR101
HP_CORONAL_CLEFT_VERTEBRAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORONAL_CLEFT_VERTEBRAE	FLNB	CHST3	TRPV4	COL2A1	ARSL	PEX7	SLC26A2	COL11A2	LONP1	HSPA9	CSGALNACT1	TRIP11	SLC10A7	HSPG2
HP_BACK_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BACK_PAIN	PALB2	STAT6	ABCD1	PLEKHM1	VHL	CPOX	TRAPPC2	TMEM43	CFH	CLCN7	ATP7B	HMBS	VCP	HTRA1	SMAD4	PRKCSH	LMNA	MESP2	LMX1B	BRCA2	FHL1	SLC22A12	COL2A1	TBX6	RABL3	SPTBN1	SMARCB1	TCIRG1	HGD	SLC2A9	TP53	SYNE1	BAP1	CD46	MATN3	LRP5	SUFU	PALLD	DLL3	HLA-B	VANGL1	SMARCE1	HELLPAR	CDKN2A	NF2	FLI1	ALDH18A1	BRCA1	CFI	CAPN3	TRAF7	SEC63	TERT	NAB2	KRAS	SYNE2	RASA1	PDGFB	SMO	EMD	FAR1	SPAST	AKT1	POLR3GL	PPOX	PIK3CA
HP_LOW_BACK_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_BACK_PAIN	STAT6	HGD	NAB2	FAR1	SPAST	HTRA1	TBX6	ALDH18A1	COL2A1
HP_VERTEBRAL_SEGMENTATION_DEFECT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERTEBRAL_SEGMENTATION_DEFECT	IKBKG	HRAS	RTL1	GPC3	SMAD4	MLXIPL	SUFU	MESP2	FGD1	TPM2	CPLX1	FGFRL1	RAD21	KDM6A	SOX2	CHRM3	ROR2	TNNI2	FLNB	GLI3	KRAS	KYNU	RBM8A	TMEM251	MNX1	ELN	TMEM270	GTF2I	TBC1D24	ABCC6	NCF1	ANKRD11	CTBP1	TBX6	RFC2	LIMK1	HGD	EIF4H	FRAS1	DNAL4	GDF5	GPC4	RIPPLY2	COL2A1	FKBP6	STX1A	MYH3	DLL3	TMCO1	VANGL1	DVL3	SIX6	FGFR1	FANCI	CHRNG	KANSL1	SALL4	TAF1	BAZ1B	DCC	MEG3	GDF3	NALCN	HES7	GDF6	PUF60	SEMA3E	HNRNPK	SON	NOG	CHD7	FANCB	EBP	NADSYN1	FKRP	HOXD13	MAP3K7	FLNA	BUD23	FGFR2	MYO18B	RAD51	CDK10	DNAJC30	PTCH2	BMPER	ATRX	ENPP1	CHRND	MEOX1	MID1	ORC1	MBTPS2	GTF2IRD2	PTCH1	DKK1	CCDC22	FZD2	MADD	NOTCH3	NTN1	NRAS	POR	VPS37D	FREM2	WNT5A	LETM1	COG1	LFNG	BCL7B	KMT2D	WASHC5	WNT7A	FN1	FUZ	IL1RN	SOX5	DLK1	JAG1	B3GLCT	NXN	CHRNA1	WBP11	TBX2	EIF5A	METTL27	GRIP1	TBL2	CLIP2	NSD2	AFF4	GTF2IRD1	STAG2	DVL1	CAPN15	MAFB	TNNT3	ACVR1	CHN1	ATP6V1B2
HP_THORACOLUMBAR_KYPHOSCOLIOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACOLUMBAR_KYPHOSCOLIOSIS	NEPRO	MGAT2	LHX3	GNPTAB	POP1	SLC26A2	CDH11	CCN6
HP_CNS_HYPOMYELINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CNS_HYPOMYELINATION	EIF2B1	EIF2B4	HEXB	SPATA5	YIF1B	ALS2	SPTLC1	SIGMAR1	GABRA2	DYRK1A	TBCD	DDOST	GRM7	NMNAT1	ATP6V1A	PYCR2	PIGW	EIF2B5	EXOSC5	PGAP3	PHGDH	TTC26	SOX10	GRIK2	SMPD4	CLDN11	POLR3A	AARS1	STXBP1	PEX13	AHCY	PGAP2	SNIP1	PIGL	CNTNAP1	POLR1C	SLC25A12	PLP1	POLR3B	DPAGT1	PURA	EIF2B2	BCAP31	INTU	SPG11	DARS1	PIGO	SLC1A4	SPTAN1	ZNF335	CYB5R3	GLUL	RARS1	SLC33A1	PIGV	VPS11	MED27	ACBD5	GAN	FUS	ADSL	TRAPPC11	GJC2	WDR26	TUBB4A	RMND1	FAM126A	MTHFS	GABRA5	PIGY	LEMD2	DALRD3	EIF2B3	PRKDC	CYB5A	GDAP1	NKX6-2	ALG2	NARS2	C2orf69	EXOC2	PARS2	QARS1
HP_DECREASED_SIZE_OF_NERVE_TERMINALS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SIZE_OF_NERVE_TERMINALS	DOK7	COLQ	RAPSN	MUSK	CHRND	CHRNB1	CHRNE	SCN4A	LAMB2	AGRN	GFPT1	CHRNA1	LRP4	COL13A1	AK9
HP_EMG_CHRONIC_DENERVATION_SIGNS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMG_CHRONIC_DENERVATION_SIGNS	ERGIC1	OPA1	SPG7	PSAP	TBCK	VCP	HNRNPA2B1	HSPB1	ARSA	DCAF8	MFN2	FBXO38	ASAH1	ALS2	SCO2	PRPS1	PLA2G6	MPV17	TBCE	SLC12A6	HINT1	SH3TC2	HNRNPA1	HSPB8
HP_EMG_NEUROPATHIC_CHANGES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMG_NEUROPATHIC_CHANGES	ERGIC1	NOP56	SPG7	PSAP	TBCK	VPS13A	NEB	DYNC1H1	ARSA	IBA57	DCAF8	FBXO38	ASAH1	SCO2	PLA2G6	SPG11	PLEKHG5	SH3TC2	VRK1	PMP22	GJB1	HSPB3	OPA1	TPP1	CHCHD10	VCP	ANO5	HNRNPA2B1	ATP7A	HSPB1	VAPB	IGHMBP2	LDB3	MFN2	GDAP1	UBA1	ALS2	PRPS1	MPV17	TBCE	NEFH	SYNE1	SMN1	SLC12A6	HINT1	ACTA1	MYH7	HSPB8	HNRNPA1
HP_AXONAL_LOSS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AXONAL_LOSS	GDAP1	FIG4	UBQLN2	TYROBP	MOCS1	LMNA	SURF1	NGLY1	BAG3	ASCC1	RFC1	MOCS2	TRIP4	ADPRS	NDRG1	INF2	GJB1	UBTF
HP_COLD_INDUCED_MUSCLE_CRAMPS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COLD_INDUCED_MUSCLE_CRAMPS	MPZ	CPT2	PMP22	CHCHD10	GARS1	REEP1	BSCL2
HP_AXONAL_REGENERATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AXONAL_REGENERATION	NEFL	JPH1	GDAP1	YARS1	HK1	GNB4
HP_INCREASED_SERUM_IRON	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_SERUM_IRON	KIF23	HJV	PKLR	HFE	BMP2	STEAP3	HAMP	BCS1L	TTC37	TFR2
HP_ANTINEUTROPHIL_ANTIBODY_POSITIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTINEUTROPHIL_ANTIBODY_POSITIVITY	FASLG	ITCH	IRAK1	FAS	RASGRP1	STING1	CASP10	DEF6	SPP1	GFI1	ELANE	SRP54	TCIRG1	STAT4	PRKCD	BACH2	FCGR3B
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	CPT2	ABCD1	PEX19	PEX5	PEX1
HP_EMG_ABNORMALITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMG_ABNORMALITY	PLN	SAR1B	GABRA3	SPG7	GAS1	NOTCH2NLC	UNC80	MT-TK	SLC25A4	MYO9A	AGRN	BIN1	TNNC1	SMAD4	LDB3	BAG3	FBXO38	TIA1	POMT2	NEXN	LMNA	RRM2B	LAMP2	RYR1	ASAH1	SQSTM1	DOK7	DES	TRIM32	HSPG2	PLA2G6	CHRNE	ALG2	LARGE1	ACTA1	TMPO	CYP27A1	CACNA1S	LRP12	TTN	KBTBD13	DSG2	SYT2	CLCN1	CHCHD10	SLC25A1	SCN4A	MSTO1	NEB	KLHL9	MT-TL2	MT-TN	MYH7	HNRNPA2B1	ATP7A	MT-TL1	TWNK	TXNRD2	GYG1	CRYAB	IGHMBP2	CAV3	ARSA	MT-ND5	NODAL	TPM3	MYF6	TNNI3	PRDM16	GDAP1	ANO5	ALS2	FHL2	COLQ	SYNE2	VCP	SNAP25	MTMR14	GMPPB	TBCE	COL6A2	EMD	POLG	MYH14	LAMA2	SMN1	COL6A1	SLC12A6	COL13A1	STIM1	PPCS	ALG14	TPM2	CHRND	SPTLC2	TPM1	PSAP	TBCK	LAMB2	NALCN	FKTN	DYNC1H1	TAFAZZIN	MT-ATP8	CASR	PLEC	CHAT	GFPT1	SGCG	GIPC1	COL6A3	MUSK	PTCH1	FHL1	KCNJ18	LGI4	FKRP	ACTC1	PUS1	PLEKHG5	CHRNA1	MYOT	MYBPC1	SIX3	CPLANE1	SCN5A	ACTN2	CDON	TPP1	TK2	GNA11	CHRNB1	POLG2	SUFU	FRG1	DNMT3B	ELP1	CASQ1	GNE	RAPSN	HSPB1	ACAD9	SMCHD1	TANGO2	OAT	NEFH	TRIP4	DISP1	TNNT1	SVIL	HSPB8	ANKRD1	ATXN3	KCNA1	ERGIC1	DMD	COL12A1	PLOD1	MT-RNR1	CRPPA	DNM2	TMEM43	FGF8	POMT1	MT-TH	IBA57	SPEG	CAP2	VAMP1	CEP126	ATL3	LRP4	PSEN2	B3GALNT2	TDGF1	MYPN	VRK1	PMP22	ALDOA	DOLK	MYBPC3	OPA1	ZIC2	MT-TF	DPAGT1	SLC5A7	CPT1C	RBM20	ATL1	VAPB	CNTNAP1	TGIF1	RAF1	DYSF	TNNT2	PSEN1	FGFR1	KLHL41	DUX4	SLC18A3	ABHD5	PRPS1	DMXL2	FOXH1	ANO10	PDK3	SYNE1	HINT1	ABCC9	TNPO3	GBE1	CSRP3	HNRNPA1	ADCY6	SMN2	SPTLC1	NOP56	MAFB	ATP13A2	MT-TP	VPS13A	TFG	YARS2	SDHA	DCAF8	FXR1	VWA1	SGCD	MATR3	CACNA1D	VCL	MT-TS2	ORAI1	NEFL	SCO2	HAND2	SPG11	MYH6	SH3TC2	POMGNT1	GJB1	HSPB3	GLI2	JAG2	SHH	MFN2	DLL1	COQ8A	UBA1	KCNE3	AK9	SEPTIN9	MT-TQ	DSP	TCAP	MPV17	GATAD1	UNC45B	LAMA4	SGCA	TAF1A	DHX16
HP_EMG_MYOPATHIC_ABNORMALITIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMG_MYOPATHIC_ABNORMALITIES	SAR1B	COL12A1	PLOD1	GAS1	CHRND	UNC80	SLC25A4	CRPPA	POLG	MYO9A	AGRN	NEB	BIN1	DNM2	TMEM43	FGF8	BAG3	TIA1	LMNA	RRM2B	GNE	LAMP2	RYR1	SQSTM1	DOK7	DES	TRIM32	VAMP1	TWNK	CHRNE	FKTN	LARGE1	VCP	ACTA1	LRP4	TDGF1	MYPN	LRP12	TTN	ALDOA	KBTBD13	ZIC2	CHCHD10	SLC25A1	SCN4A	MSTO1	KLHL9	SLC5A7	MYH7	HNRNPA2B1	GYG1	CAV3	NODAL	LDB3	TGIF1	TPM3	MYF6	DYSF	FGFR1	ANO5	KLHL41	SLC18A3	CRYAB	ABHD5	SYNE2	SNAP25	MTMR14	COL13A1	FOXH1	COL6A2	EMD	MYH14	COL6A3	COL6A1	STIM1	TNPO3	TPM2	HNRNPA1	SYT2	NALCN	POMT1	PLEC	CHAT	SGCG	FXR1	VWA1	GIPC1	ORAI1	MUSK	NEFL	FKRP	PTCH1	FHL1	MYOT	CHRNA1	MYBPC1	SIX3	SYNE1	GLI2	CDON	TK2	CHRNB1	JAG2	POLG2	SUFU	SHH	CASQ1	DLL1	AK9	RAPSN	ACAD9	TANGO2	TRIP4	UNC45B	SGCA	DISP1	TNNT1	SVIL	DHX16
HP_POLYCLONAL_ELEVATION_OF_IGM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYCLONAL_ELEVATION_OF_IGM	MYD88	TCF4	MST1	GPR35	KLHDC8B	SEMA4D
HP_DECREASED_CIRCULATING_TOTAL_IGA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_TOTAL_IGA	PIK3CD	CD247	CD3D	ATP6AP1	IVNS1ABP	CD3E	KNSTRN	SYK
HP_PARADOXICAL_INCREASED_CORTISOL_SECRETION_ON_DEXAMETHASONE_SUPPRESSION_TEST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARADOXICAL_INCREASED_CORTISOL_SECRETION_ON_DEXAMETHASONE_SUPPRESSION_TEST	TP53	PRKAR1A	PRKACA	CDH23	PDE11A	PDE8B	ARMC5	USP8	GNAS
HP_ATLANTOAXIAL_INSTABILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATLANTOAXIAL_INSTABILITY	GATA1	FKBP14	DYM	ARSL	COL2A1	DDR2
HP_ABNORMAL_VERTEBRAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VERTEBRAL_MORPHOLOGY	SMAD4	WNT1	EXOC6B	CEP120	DDRGK1	SFRP4	TRPV4	GPC3	ABCC9	RBM8A	AGA	FBN1	MNX1	TCIRG1	FGFR3	NKX3-2	GTF2I	SUMF1	NCF1	HSPG2	ARSL	EBP	ROR2	CEP41	PIEZO2	KDM1A	TMEM67	EIF4H	NELFA	DNAL4	SIX3	MMP13	AHI1	GPC4	COL2A1	MMP2	SERPINF1	LETM1	PTCH1	COL11A2	VANGL1	GLE1	FGFR1	TWIST1	FANCB	ZIC3	CHRNG	KANSL1	SALL4	RSPRY1	DCC	GDF6	SLC39A13	DDR2	USP8	DMP1	LBR	CHD7	GORAB	NADSYN1	SLC29A3	MYO18B	COLEC11	TBX6	PTCH2	SLC26A2	SEMA3E	CHST3	MID1	SLC25A24	ACAN	MBTPS2	FANCC	NAGLU	NTN1	NRAS	SOX2	RECQL4	SBDS	BNC1	FKBP10	SMARCAL1	CDH23	MEOX1	CPLX1	FREM2	COL10A1	RMRP	SLC10A7	BCL7B	COG4	MYH3	CLCN3	CCL2	TONSL	WNT7A	NODAL	FKRP	STIL	KDM6A	DHX37	SGSH	IDH1	SMOC1	OTX2	TNFRSF11A	IL1RN	DYNC2I1	FLNA	NEPRO	FLNB	GJA1	FUCA1	SOX5	PSMC3IP	POR	PDE4D	HDAC6	CCN6	IFITM5	ZIC2	GLB1	JAG1	CSPP1	PLOD2	OBSL1	NXN	DNAJC21	KIAA0586	METTL27	RNU4ATAC	MAP3K7	NR5A1	COL1A2	NSD2	TGIF1	COL11A1	STAG2	TMCO1	DVL1	AKT1	RPL13	ATP7A	ATP6V1B2	TRIP11	IKBKG	PLS3	SCARB2	IDS	MESP2	FGD1	TPM2	ENPP1	LONP1	CHRM3	SPIDR	EXTL3	GALNS	GLI3	KYNU	TMEM251	ELN	ERF	TENT5A	DHODH	GBA	SPARC	MAN2B1	RFC2	LHX4	TDGF1	INPP5E	INPPL1	FRAS1	LTBP3	GDF5	BMP1	UBE3B	RIPPLY2	KIF22	TBXT	FKBP6	PAM16	CEP104	COL9A2	SRP54	CLCN7	HIBCH	RUNX2	XYLT2	OTUD5	CSGALNACT1	GDF3	RPS19	RAI1	SON	PHEX	CTBP1	BUD23	FGFR2	NEK9	PMM2	ZBTB20	CDK10	DNAJC30	BMPER	ATRX	CHRND	MRPS28	DLL3	IDUA	FLI1	PPIB	DISP1	MADD	FLII	PLOD3	PTH1R	SOX9	CCND1	LRP5	VPS37D	LOXL3	DEAF1	GUSB	WNT5A	TAPT1	IARS2	NOG	CBS	CCDC8	MKS1	FN1	THPO	EIF2AK3	SALL1	ADA	DKK1	FUZ	ARL13B	CFAP410	SHH	ARSB	DYM	PAPSS2	SKI	MESD	DLK1	GPX4	COL1A1	CHRNA1	WBP11	HNRNPK	DYNC2H1	TBX2	GRIP1	ACVR1	PYCR1	AFF4	RPS6KA3	ACP5	TNNT3	LRP4	SERPINH1	WDR35	IDH2	OCRL	TCTN2	NOTCH3	CANT1	PIGG	EFL1	RINT1	MLXIPL	SUFU	PLEKHM1	GDF11	BMP15	RAD21	VPS35L	PLOD1	COMP	KRAS	FIG4	CDON	TBC1D24	APC	ABCC6	LIMK1	NPR2	HGD	PRKAR1A	HSPA9	GNPTAB	ANTXR1	BGN	GAS1	XYLT1	KMT2D	PEX7	POP1	PIBF1	CPLANE1	SIX6	FANCI	SGMS2	NALCN	HES7	TCTN1	CSF1R	CYP27A1	UROS	FOXA2	HOXD13	CDH11	ALPL	NOTCH2	RAD51	SEC24D	TBXAS1	NSD1	HESX1	ORC1	SC5D	FZD2	CTSA	TRAPPC2	SETD2	IHH	GNPAT	SF3B4	COG1	LFNG	NANS	B3GALT6	WASHC5	VANGL2	SMS	DSE	FOXF1	PPP1R15B	AIP	IFT43	HAAO	MIA3	NF1	CUL7	TMEM237	SOST	B9D1	ALG12	HGSNAT	NUP107	DACT1	LEMD3	KIF7	WNT3A	MATN3	FSHR	TBL2	FGF8	ITCH	COL9A1	NOTCH2NLC	MRPS22	MPL	NSDHL	WNT3	COL9A3	UFSP2	MAFB	CHN1	HRAS	RTL1	APC2	DLL1	DHCR7	FGFRL1	SLC35D1	GNS	HHAT	TNNI2	PROP1	RSPO2	TMEM270	VDR	POLR3H	ANKRD11	PHF6	PAX3	P3H1	AIFM1	NMNAT1	DYNC2I2	KATNIP	CBY1	B3GAT3	STX1A	RAB33B	PCYT1A	DVL3	PLCB3	P4HB	POU1F1	TAF1	BAZ1B	MEG3	PUF60	CHST14	NEU1	MIR140	KDELR2	CRTAP	PRKG2	HTRA1	GTF2IRD2	CCDC22	GLI2	SEC23A	HYLS1	ARMC9	SH2B1	KCNJ8	SOX3	TBX15	ARL3	PTEN	IPO8	POLR3A	FOXH1	MMP14	TBX5	B3GLCT	CREB3L1	IFT80	SH3PXD2B	NEK1	EIF5A	IQSEC2	CLIP2	GTF2IRD1	CAPN15
HP_PARALYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARALYSIS	NF1	CFAP410	CACNA1S	GABRA3	TPI1	RET	PRPH	ALDH18A1	TMEM43	LONP1	MLXIPL	BAG3	FGFR1	GIPC1	SLC2A1	HMBS	GBA	VCP	FAH	TAF15	SCN4A	TCIRG1	SRPX2	TREM2	SDHAF2	PON1	SOD1	SLC25A11	MEGF10	ATXN3	POLG	CNTNAP1	VHL	ATXN2	OPTN	JAG1	CYP27A1	CLCN7	PMP22	DCTN1	ALOX12B	MORC2	TRPV4	GLT8D1	CDH23	ELN	PON3	IGHMBP2	NEFH	CHMP2B	DNMT3A	GLE1	FIG4	KCNJ2	GDAP1	KCNJ18	DLST	MYCN	PDCD10	SDHC	SLC4A1	SYNE2	CD59	LMNA	HNRNPA1	LMNB1	EMD	CLCNKB	NEK1	PON2	PI4KA	SDHD	SLC25A19	SDHB	ATP1A2	ZNF699	HTRA1	GM2A	MFN2	PFN1	TRPM7	NONO	PPARGC1A	DKK1	FUS	KRAS	BCHE	CHCHD10	SLC12A3	COL4A1	ABCB6	SBF2	ALAD	MATR3	PRX	RARS1	C9orf72	KCNJ5	SLC5A7	FHL1	B4GALNT1	MAX	FH	TBK1	SH3TC2	ANXA11	GAA	NOTCH2NLC	SEC31A	MDH2	SYNE1	CCNF	CACNA1A	UBQLN2	SETBP1	EPHA4	ADGRG1	TRAPPC12	ANG	POLA1	KIF1B	DAO	HFE	SDHA	NOTCH3	UNC13A	CPOX	KCNE3	CA2	SCN1A	SQSTM1	TMEM127	HSPB1	EPAS1	TRIM2	PRRT2	VAPB	TNFSF11	ZFYVE26	ALOXE3	SLC52A3	ERBB4	TARDBP	HK1	HSPB8	PPOX	TGM6
HP_HYPOCALCEMIC_TETANY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOCALCEMIC_TETANY	FAM111A	GNAS	CTNS	TBCE	STX16
HP_SOMATIC_SENSORY_DYSFUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SOMATIC_SENSORY_DYSFUNCTION	SACS	IL12A-AS1	COA7	NOTCH2NLC	UNC80	HARS1	IL12A	MPV17	YY1	MT-TE	CACNA1A	MAPT	NDN	STUB1	CHCHD10	AIFM1	SLC2A1	ABCD1	GARS1	TPP1	HAX1	INF2	SDHA	PIK3R5	PMP22	LMNA	FXN	SNRPN	FLVCR1	MTMR2	PLD3	HINT1	PRPS1	ATXN1	WDR48	JAG1	ABCA1	IGHMBP2	NEFL	SBF1	HLA-B	LIFR	MSTO1	ERAP1	ATP7A	MTRFR	REEP2	PDK3	FBLN5	EXT2	EBF3	MEN1	REEP1	GNA11	SPG7	ATP13A2	LRSAM1	RASA1	NGF	NIPA1	CLCNKB	MADD	NTRK1	GDAP1	STAT4	SBF2	MFN2	SPTLC2	JPH1	DHH	TGM1	NALCN	SH3TC2	CAV1	ERLIN2	MPL	PHYH	C19orf12	CASR	RPS20	POLG	ALAD	NTNG1	SHANK3	ZEB2	RTN2	APTX	DARS2	SH2B3	GALC	KIF1A	HPGD	KNSTRN	SYT2	SERPINI1	CHAMP1	ALMS1	RAI1	CCT5	MKRN3	NDRG1	FIG4	KRT14	UROS	MAGEL2	EPCAM	SMC1A	JAK2	ATN1	SLC19A2	ATXN3	PNKP	NAGA	NARS1	FLI1	GJC2	RAB7A	GBA2	SCN1A	SLCO2A1	ALDH18A1	NPAP1	ATXN7	SCN10A	GNB4	ZFYVE26	FGD4	IGF2	OCA2	RELA	DYNC1H1	TDP1	PTPN22	VCP	PLOD1	HEXB	GBF1	BAG3	CADM3	PRX	GCH1	SLC12A1	GNAS	WNK1	MLH3	YARS1	TLR4	SAMD9L	FMR1	TWNK	FLRT1	TGFBR2	PRKCG	DNM2	ERBB3	NPRL2	MORC2	SLC25A46	MARS1	MSH2	DDHD1	TNFRSF1A	FBN1	KRAS	CPT1C	SLC25A15	KCNJ1	SLC26A2	ATL1	PDCD1	HSPD1	RRM2B	CDKL5	KRT16	TK2	HMBS	ATP1A2	GNA14	GBE1	VPS13D	HSPB8	SCYL1	SPTLC1	AASS	VPS13A	FLII	UROD	IFNGR1	RETREG1	CLTCL1	ZFTA	CCND1	CAPN1	DEAF1	VWA1	IARS2	C4A	MPZ	SPTBN2	PIK3CD	LYST	SPG11	BMPR1A	B4GALNT1	TP53	SPAST	FAN1	SNORD115-1	BSCL2	MTTP	TRPV4	LMX1B	HSPB1	SCN9A	SETX	DNAJC3	TFG	DEPDC5	MME	IL23R	HNRNPK	SEPTIN9	HPDL	MT-ATP6	STX16	MATR3	GABBR2	KCNQ1OT1	CACNA1G	SNORD116-1	KLC2	PRRT2	SRPX2	XRCC1	RFC1	CBLIF	AEBP1	MECP2	PPOX	SAR1B	CALR	LITAF	KRT9	PIEZO2	WASHC5	AIP	IFRD1	CYP7B1	PSAP	TBP	BEAN1	TYMP	H19	LIG3	KRT1	KLHL9	GMPPA	EXT1	CTDP1	ELOVL5	RNF170	OPA3	MLH1	HDAC4	CYP27A1	CUBN	TET2	KPNA3	KIF5A	PEX10	KRT5	NF2	FAR1	PGM3	UBAC2	UBTF	EGR2	SLC33A1	PRNP	ATXN2	SCN11A	DKK1	HK1	SLC12A3	MEFV	SORD	ATXN8OS	MED25	MAG	SEMA4A	DSE	GAN	VPS37A	KARS1	GJB1	P4HA2	NAGLU	CCR1	PDYN	POLR3A	PMS2	ELP1	COL1A1	NPRL3	PIK3CA	APP	ALDH4A1	NEFH	PEX6	SOX10	PWAR1	VAMP1	PI4KA	KCND3	SCN4A	GABRG2	IL10	ATL3	DNAJB2	UBAP1	KDM5C	PMS1	SIM1	GLA	THPO	SYNGAP1	CHST14	PEX7	KCNC3	MTHFR	SYNE1	DHTKD1	HTRA1	GPR101	NGLY1	HLA-DRB1	TRAPPC2	GPI	MSH6	NLRP3	PLEKHG5	DCAF8	HERC2	SPART	AARS1	SCO2	KIF1B	PWRN1	ZFHX2	GRIN2A	ABHD12	KLRC4	COX6A1	FUZ	LMNB1	GATA1	PLEKHG4	MCM3AP	IBA57	FGF14	GRIA3	DAB1	IQSEC2	VPS41	TMEM218	HLA-DQB1	COMP	ARSI	FAS	SERPING1
HP_PERIPHERAL_AXONAL_NEUROPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_AXONAL_NEUROPATHY	SPG7	COA7	MT-ND6	POLG	BIN1	MT-TE	SPTLC1	PDX1	BRAF	AIFM1	STAT3	XRCC4	PIEZO2	RRM2B	INS	IFRD1	FXN	PLD3	TRAPPC11	WARS1	HINT1	WDR48	KARS1	ABCA1	MPZ	LIG3	NAGA	MT-TW	MORC2	ATAD3A	KLHL9	GCK	HNRNPA2B1	CTSD	TWNK	MT-TH	KIF1A	CTDP1	FBLN5	MYF6	CCT5	TRIP4	ERBB2	TBCD	MT-CO1	VCP	MTMR14	MT-ND1	TBCE	NEMF	SLC12A6	ATP13A2	AAAS	DARS2	PLA2G6	GLE1	SPTLC2	HK1	PRICKLE1	MFN2	SERPING1	MME	WFS1	MT-TF	AFG3L2	C19orf12	GDAP1	GJC2	GAN	MT-CO3	MTRFR	SLC25A4	RETREG1	MT-CO2	POLG2	GNB2	GBA2	XK	MT-TL1	TYMP	ELOVL5	NEFH	ZFYVE26	AMPD2	ALDH18A1	ATXN3	TDP1	PLOD1	SH3TC2	SPG11	DNM2	IBA57	HMBS	CYP2U1	ELOVL4	PNPLA6	FLRT1	SPTBN4	ATL3	MT-TS2	KLC2	SLC25A46	KIF5A	MARS1	OPA1	PIGB	ATL1	COASY	DGUOK	HARS1	KCNK9	PSAP	MICU1	PEX10	MT-ND5	TK2	SYNE1	HSPB1	SLC25A19	ACOX1	FGF14	ERCC8	KRAS	KCNJ10	HNRNPA1	HSPB8	ABCC8	VPS13A	VPS13D	LMNA	GMPPA	VPS41	ASCC1	CAPN1	DCAF8	VWA1	AARS1	GBE1	NEFL	COX20	DYNC1H1	TTR	SHMT2	ABCD1	PLEKHG4	SETX	COG8	ERCC6	TUBB3	MCM3AP	TRPV4	MT-ATP6	TRIM2	MT-ND4	KCNJ11	MPV17	RYR1	MT-TQ	DHX16	DDHD1
HP_SEGMENTAL_PERIPHERAL_DEMYELINATION_REMYELINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEGMENTAL_PERIPHERAL_DEMYELINATION_REMYELINATION	NEFL	MT-TL1	PMP22	GBF1	LITAF	PRX	MT-ND2	MT-TK	MPZ	MT-ND5	MT-ND3	MT-ND4	DNM2	MT-TW	PRPS1	MT-TV	MT-ATP6	NDRG1	MT-ND6	SBF2	EGR2	MT-ND1
HP_EMG_AXONAL_ABNORMALITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMG_AXONAL_ABNORMALITY	GNE	PDK3	ATP13A2	CYP27A1	ANO5	SGCG	TFG	LMNA	SPG11
HP_UPPER_LIMB_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_LIMB_MUSCLE_WEAKNESS	ERGIC1	DYSF	PLOD1	CHRND	CPOX	BIN1	DNM2	TMEM43	CADM3	GIPC1	HMBS	GARS1	PIEZO2	FBXO38	LMNA	YARS1	DOK7	ACTA1	CYP7B1	CHRNE	AGRN	LRP4	VCP	JAG1	BAP1	NUP62	MORC2	CHCHD10	SCN4A	LDB3	GYG1	SMARCE1	MYH7	NF2	MYF6	CRPPA	MT-ATP6	TCAP	ADAR	LAMA2	NEFL	SPG7	TRAF7	MTRFR	SYNE2	SMO	MTMR14	GMPPB	EMD	KY	MT-CO3	POMT1	GALC	COL13A1	AKT1	VHL	TFG	SH3TC2	EGR2	SBF2	LIPE	SGCG	ADSS1	VWA1	SPART	MPZ	MUSK	FHL1	LPIN1	ANO5	SMARCB1	MT-CO1	CHRNA1	NOTCH2NLC	BSCL2	SYNE1	FUZ	SUFU	CHRNB1	JAG2	MFN2	AK9	GDAP1	POU3F4	RAPSN	TERT	PDGFB	NEFH	ZFYVE26	RYR1	FGD4	REEP1	PPOX	DNMT3B	PIK3CA
HP_BABINSKI_SIGN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BABINSKI_SIGN	SACS	UBAP1	SPG7	TARDBP	MECP2	SELENOI	MT-TE	CLCN4	SLC2A1	PRSS12	SETX	ASPA	OPA3	TPP1	HTRA1	PMP22	FA2H	WASHC5	AP4B1	SDHA	NT5C2	TAF2	PET117	FXN	FARS2	TSEN2	PRPS1	HSPD1	GPT2	ZNF41	RFC1	CYP7B1	TIMM8A	AIFM1	CHCHD10	ATXN3	TYROBP	NOP56	SLC19A3	GDI1	LARGE1	MT-ATP6	HADHA	FTSJ1	ATXN1	PYCR2	ALDH18A1	NUP62	MORC2	KIF1C	GCH1	FGF13	JAM2	HADHB	NDUFA4	SLC16A2	KIF1A	POLR3A	ARSA	HTT	RNF170	CCT5	CPT1C	DLAT	CYP27A1	ATP13A2	ALS2	KPNA3	SOD1	KIF5A	C19orf12	SLC9A7	CHP1	EIF2S3	FTL	NIPA1	KY	TSEN15	CNKSR2	VCP	DARS2	FAR1	GBA2	SLC33A1	PSAP	MCOLN1	DKK1	MTPAP	GLRX5	SQSTM1	PRICKLE1	SNX14	SLC1A4	CAV1	ERLIN2	SNCA	DNMT1	TSEN34	IREB2	DMD	MAG	ARHGEF6	RTN2	DNAJC3	MFN2	AP4S1	IQSEC2	SEPSECS	AP4E1	ACSL4	DDC	POLR3B	MDH2	AP4M1	SPG21	GAN	NUBPL	GJC2	SYP	CACNA1G	TH	SLC39A14	PDYN	ZNF711	DDHD2	GRID2	REEP1	PLP1	TSPOAP1	TSPAN7	PRNP	PCYT2	DEGS1	TRMT5	TSEN54	NDUFS1	BSCL2	PLA2G6	MED12	STUB1	CYP2U1	TMEM63A	COQ2	ATXN7	TANGO2	CWF19L1	NEFH	ZFYVE26	TTC19	USP9X	ADPRS	TGM6	MPZ	VAMP1	SLC44A1	FBXO7	IL1RAPL1	PI4KA	IBA57	ATP6AP2	PIK3R5	EEF2	CACNA1A	ZFYVE27	SAMD9L	MAN2B1	SDHB	WWOX	SLC25A46	CTSF	CHMP2B	TREM2	DLG3	DDHD1	UGDH	KDM5C	PNPLA6	MID2	NDUFS4	CLDN11	RUSC2	ATL1	ADAR	MTRFR	PSEN1	FUS	FRMPD4	CNTNAP1	ARX	FAM126A	TBC1D20	LMNB1	ALG13	AFG3L2	RAB39B	SYNE1	GALC	STEEP1	CTDP1	DSTYK	BRAT1	NFASC	ZFR	CAPN1	APOE	TBK1	PLAA	SLC2A3	ABCD1	DARS1	CNP	VPS13D	COL4A1	AGTR2	RNASEH1	GFM2	OPA1	SPART	UCHL1	NEFL	SPG11	C9orf72	B4GALNT1	COX20	PIGT	TFG	UPF3B	SPAST	RPS6KA3	KCNA4	ABCB7	ABHD12	GJB1	MTTP	PGAP1	SIGMAR1	SHMT2	AAAS	ACOX1	PTCHD1	SDHAF1	GRIA3	USP27X	ERLIN1	HPDL	SDHD	ZNF81	ADGRG1	PAK3	KCNA1	ATXN10	DPM3	REEP2	HCFC1	PARS2
HP_ANTINUCLEAR_ANTIBODY_POSITIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTINUCLEAR_ANTIBODY_POSITIVITY	TNPO3	FASLG	NLRP1	CTLA4	FCGR2A	TNFAIP3	FAS	STING1	IL12RB1	LACC1	CD247	PRKCD	STAT4	DNASE1	FCGR2B	COPA	RASGRP1	ACP5	ANKRD55	IL2RA	PTPN2	IL2RB	TNFSF15	MMEL1	SOCS1	TREX1	MMP2	CARD10	PTPN22	CASP10	SPP1	IRF5	SPIB	IL12A	SLC7A7	PLCG2	IRAK1	RIPK1	MS4A1	POU2AF1
HP_INCREASED_CIRCULATING_IGM_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_IGM_LEVEL	IFNGR1	TNPO3	NSMCE3	FASLG	CASP10	UNG	IL12RB1	OTULIN	IRF5	SPIB	TPP2	CD40LG	PIK3CD	GPR35	IL12A	XIAP	FAS	DNMT3B	MST1	KLHDC8B	SEMA4D	VPS33A	RASGRP1	MYD88	TNFSF15	CD247	TCF4	PGM3	MMEL1	POU2AF1	CD40	SH2D1A	IKBKG	SPPL2A
HP_DISPROPORTIONATE_SHORT_STATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISPROPORTIONATE_SHORT_STATURE	CANT1	DDRGK1	SOX9	COMP	IFT122	XYLT1	XRCC4	FLNB	FGFR3	NKX3-2	CEP120	MMP13	ROR2	CTSK	SMARCAL1	NPR2	MATN3	NSMCE2	COL2A1	PRKAR1A	PUF60	BGN	PEX7	BMPR1B	FZD2	COL11A2	RSPRY1	HSPG2	DDR2	AGPS	EVC2	ARCN1	SHOX	LBR	GLI1	ALPL	RMRP	SLC26A2	CHST3	MAB21L2	GPX4	TRAPPC2	INPPL1	WDR35	IHH	GNPAT	SLC10A7	COG1	COL1A1	TONSL	WNT7A	DYNC2LI1	ACAN	GPC6	DYNC2I1	PTH1R	FGFR1	HDAC6	ALG12	GDF5	EVC	CCN6	GSC	GLB1	CSPP1	MTOR	WDR19	NXN	RNU4ATAC	COL1A2	BRF1	DYM	IFT43	TRIP11	PKDCC	MESP2	COL10A1	MBTPS2	DHCR7	SLC35D1	EXTL3	GALNS	KYNU	ASXL1	KIAA0586	TBX6	P3H1	KMT2A	DYNC2I2	B3GAT3	SIK3	KDM5C	DLL3	RAB33B	PCYT1A	XYLT2	IFT80	TRPV4	PHEX	HS2ST1	KDELR2	DHCR24	CRTAP	PRKG2	PCNT	COL11A1	PPIB	MIR140	MYSM1	POC1A	DVL1	SLC39A8	IFT52	TBX15	FN1	KIF22	BMPER	CFAP410	ARSB	B3GLCT	MESD	CREB3L1	DYNC2H1	ALG9	CEP57	WNT5A	KIAA0753	ACP5
HP_MILD_SHORT_STATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MILD_SHORT_STATURE	EVC2	EVC	COL9A2	FGD1	IDS	CHST11	CAMK2G	LBR	DOCK3	CANT1	RTTN	PDE4D	PRKAR1A	COL1A1	COMP	COL10A1	COL9A3	MATN3
HP_PROPORTIONATE_SHORT_STATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROPORTIONATE_SHORT_STATURE	CANT1	ORC1	FAM111A	GHRHR	RUNX2	MBTPS2	SELENOI	CTSA	COL1A1	GH1	ORC4	CDC6	CAMK2G	RTTN	HHAT	SMAD4	XYLT1	DDRGK1	ADAMTS10	COL1A2	CKAP2L	MESP2	TMEM251	SMARCA2	TKT	INPPL1	POLE	PNPLA6	EVC	FLNB	SIL1	GMNN	HSPG2	ARSL	TBX6	PIEZO2	FGFR3	SDHB	LBR	SDHA	ALDH18A1	PRKAR1A	HSPA9	LTBP3	HCCS	KAT6B	FGD1	PEX7	SCNN1A	DLL3	AMER1	DVL3	SLC26A2	ATR	SALL4	TRPV4	SCNN1G	SGMS2	SLC39A13	DNMT3A	PDE4D	SON	EVC2	FBN1	ERCC6	OBSL1	ACAN	GORAB	CHST11	TCTN3	INPP5K	ADAMTSL2	DLX5	GLB1	GHR	RMRP	COMP	TBCE	COL9A3	COL2A1	FZD2	CRIPT	NIN	CENPT	ERCC4	PPP1R15B	CTNNB1	WNT5A	COL10A1	BRAF	LARP7	B3GALT6	PTDSS1	ADAMTS2	TRMT10A	PIK3R1	NPR2	DHCR24	KIF11	MIA3	MATN3	FGFR1	NEPRO	NSMCE2	ANTXR2	SCNN1B	COX7B	DOCK3	STAT5B	PTCD3	PTH1R	SDHAF1	SHOX	HOXD13	COL9A2	NDUFB11	IDS	SDHD	CDT1	MAP3K7	BRF1	TRIP11	PYCR1	PCYT1A	DVL1	CDC45	DYM	HADH	RNU4ATAC	ORC6	RPL13
HP_SEVERE_SHORT_STATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_SHORT_STATURE	CANT1	ORC1	FAM111A	GHRHR	MBTPS2	CTSA	COL1A1	GH1	ORC4	CDC6	RTTN	HHAT	SMAD4	XYLT1	DDRGK1	COL1A2	CKAP2L	MESP2	TMEM251	SMARCA2	INPPL1	POLE	PNPLA6	FLNB	SIL1	GMNN	HSPG2	TBX6	PIEZO2	FGFR3	SDHB	SDHA	ALDH18A1	HSPA9	LTBP3	HCCS	KAT6B	PEX7	DLL3	AMER1	DVL3	SALL4	TRPV4	SGMS2	DNMT3A	FBN1	ERCC6	OBSL1	GORAB	TCTN3	INPP5K	ADAMTSL2	DLX5	GLB1	SLC26A2	GHR	RMRP	COMP	COL2A1	FZD2	CRIPT	NIN	CENPT	ERCC4	WNT5A	LARP7	B3GALT6	PTDSS1	ADAMTS2	PIK3R1	DHCR24	KIF11	FGFR1	NEPRO	NSMCE2	ANTXR2	COX7B	STAT5B	PTCD3	PTH1R	SDHAF1	SHOX	NDUFB11	IDS	SDHD	CDT1	MAP3K7	BRF1	TRIP11	PYCR1	PCYT1A	DVL1	CDC45	DYM	RNU4ATAC	ORC6	RPL13
HP_BIRTH_LENGTH_GREATER_THAN_97TH_PERCENTILE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIRTH_LENGTH_GREATER_THAN_97TH_PERCENTILE	GPC4	MTM1	PIGA	GPC3	SUZ12
HP_DISPROPORTIONATE_SHORT_TRUNK_SHORT_STATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISPROPORTIONATE_SHORT_TRUNK_SHORT_STATURE	TRIP11	PUF60	COL2A1	BGN	ARSB	MESP2	DYM	TRAPPC2	DLL3	RAB33B	CCN6	CHST3	SMARCAL1	GALNS	GLB1	RSPRY1	XYLT2	FLNB	NKX3-2	TRPV4	TBX6	BRF1	FN1	KIF22	ACP5	BMPER
HP_HYPERPROSTAGLANDINURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPROSTAGLANDINURIA	SLCO2A1	SLC12A1	BSND	CLCNKB	CLCNKA	KCNJ1
HP_ELEVATED_CALCITONIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CALCITONIN	NF1	SDHB	RET	KIF1B	CDKN2B	SDHA	CDKN1B	DLST	MEN1	GNAS	TMEM127	SDHC	SDHAF2	CDKN2C	SLC25A11	MAX	SDHD	FH	PDE4D	PRKAR1A	CDKN1A	VHL	MDH2
HP_ELEVATED_CIRCULATING_GLUTARIC_ACID_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CIRCULATING_GLUTARIC_ACID_CONCENTRATION	GCDH	SUGCT	ETFDH	ETFA	DNAJC19	ETFB
HP_3_METHYLGLUTACONIC_ACIDURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_3_METHYLGLUTACONIC_ACIDURIA	TMEM70	AUH	TIMM50	CLPB	OPA3	TAFAZZIN	DNAJC19	SDHA	ATP5F1D	ATP5F1E	HTRA2	MICOS13	POLG	ATPAF2	HMGCL	SUCLG1	ATAD3A	SERAC1	AGK
HP_HYPOURICEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOURICEMIA	SLC34A1	NDUFAF6	CTNS	PRPS1	SLC2A2	SLC22A12	MOCS1	PNP	HNF4A	SLC2A9	MOCS2	MOCOS	EHHADH	GATM	GPHN
HP_URINARY_GLYCOSAMINOGLYCAN_EXCRETION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URINARY_GLYCOSAMINOGLYCAN_EXCRETION	IDS	SUMF1	IDUA	COL2A1	ARSB	NAGLU	HGSNAT	GNS	RMRP	SGSH	GLB1	VPS33A	GALNS	GNPTAB	GUSB	FUCA1	PIK3C2A
HP_INCREASED_SERUM_PYRUVATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_SERUM_PYRUVATE	MT-TF	NDUFB3	NDUFA1	PDHX	NDUFB9	SLC25A26	NDUFAF5	PNPLA8	COX6A2	NDUFS8	NDUFS3	LDHA	PITRM1	NDUFAF4	NDUFB11	NDUFV1	AIFM1	LIPT2	FOXRED1	POLG	ACAT2	NDUFA11	MT-ND3	KARS1	NDUFS2	PC	PDHA1	SDHB	NDUFS4	NDUFB10	MECP2	NDUFS7	NDUFV2	NDUFA6	MT-TK	TMEM126B	COX16	NDUFS6	MT-ND1	MPC1	COX10	NDUFAF1	TIMMDC1	LONP1	MT-TP	MT-TI	MT-TL1	NDUFAF2	UQCRC2	NDUFAF8	BCS1L	NDUFAF3	NDUFS1	NUBPL	MT-ND2	TWNK
HP_EXERCISE_INTOLERANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXERCISE_INTOLERANCE	MT-ND6	SLC25A4	POLG	NEB	MT-TE	POLR2A	COL13A1	COA3	KBTBD13	ACAD9	TBX20	RRM2B	PFKM	MGME1	LAMP2	YARS2	CAVIN1	MT-CYB	TWNK	FARSB	HADHA	MT-TS2	MYPN	NKX2-5	MT-TW	PGAM2	C1QBP	TOP3A	CHCHD10	GCDH	RNASEH1	HADHB	NDUFS4	TAFAZZIN	MT-TH	MT-TK	SDHA	CITED2	GMPPB	FARSA	PHKB	MT-CO1	MT-ND1	TMEM126B	MT-ND5	TK2	CPT2	PYGM	HINT1	MYH6	ACTC1	TPM2	PHKG2	MT-TN	PUS1	AGK	RSPH4A	KLHL41	DMD	RSPH9	SLC18A3	LDHA	FLAD1	GATA6	PGM1	MT-TF	GYS1	SURF1	POLG2	PHKA1	COQ8A	MT-CO3	PNPLA2	ACTA1	GATA4	PHKA2	MT-CO2	SLC25A32	DNA2	BVES	TRMT5	TLL1	COL12A1	MT-TL1	ATP5F1D	ISCU	MT-ND4	BCS1L	PGK1	ALDH4A1	TPM3	MT-TQ	ENO3	MIEF2
HP_SHOULDER_GIRDLE_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHOULDER_GIRDLE_MUSCLE_WEAKNESS	LRIF1	SELENON	DYSF	ITGA7	CHRND	MT-TE	VCP	FRG1	RRM2B	MATR3	DOK7	GALC	TRIM32	MUSK	CHRNE	HACD1	AGRN	FKRP	PSAP	LRP4	CHRNA1	MYOT	TTN	GDAP1	PNPLA2	SLC25A4	TPM2	CHRNB1	SCN4A	TWNK	GYG1	POLG2	MYH7	MYL2	MAP3K20	ANO5	AK9	GNE	RAPSN	TPM3	ABHD5	DNAJB6	ACTA1	POLG	HNRNPDL	BICD2	COL13A1	TNPO3	RYR1
HP_SUBSARCOLEMMAL_ACCUMULATIONS_OF_ABNORMALLY_SHAPED_MITOCHONDRIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBSARCOLEMMAL_ACCUMULATIONS_OF_ABNORMALLY_SHAPED_MITOCHONDRIA	TWNK	TYMP	POLG	SLC25A4	ISCU	PNPT1
HP_PREDOMINANTLY_LOWER_LIMB_LYMPHEDEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREDOMINANTLY_LOWER_LIMB_LYMPHEDEMA	FLT4	FOXC2	SOX18	CELSR1	DNMT1	GJC2
HP_DIFFICULTY_CLIMBING_STAIRS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFICULTY_CLIMBING_STAIRS	LRIF1	DYSF	TPM3	PYROXD1	POMT2	MT-TE	DAG1	DMD	VMA21	PLEC	CAPN3	VCP	KBTBD13	TTN	GFPT1	SGCG	ADSS1	SPEG	POMGNT1	RRM2B	POMT1	POMK	DNAJB6	RYR1	ANO5	ALG2	FKRP	HADHA	ACTA1	PLEKHG5	TFG	MYOT	MYPN	SGCA	SLC25A4	BIN1	RNASEH1	HADHB	TWNK	POLG2	GMPPB	MFN2	TCAP	LAMA2	FLNC	POLG	DPAGT1	MIEF2	ALG14	TPM2
HP_MUSCLE_STIFFNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_STIFFNESS	VAMP1	GABRA3	ABCD1	PRKAR1B	KRAS	KAT6A	POLG	RNASEH2B	SLC16A1	NEB	FGFR1	KLHL41	PI4KA	ARX	LDHA	KBTBD13	ADAR	DNAJC6	CAV3	PANK2	CLCN1	DARS2	ACADVL	MAPT	SCN4A	CAVIN1	SLC6A5	GALC	SIL1	MYOT	STIM1	KCNJ18	AOPEP	ANO5	KCNA1	TNFRSF1A	CRYAB	HINT1	DHCR24	PSAP	CACNA1S	SPAST	MYPN	GPHN	MYO5A	KIF5A	PHKA1	KIF11	ATAD1	ACTA1	RYR1	LDB3	KIF1A	ATP13A2	SPG7	GLRB	ATP2A1	MT-ATP6	INPP5K	RNASEH2A	ANO10	ZFYVE26	TPM3	TK2	PYGM	TREX1	RNASEH2C	REEP2	PODXL	SLC2A1	RNU4ATAC	TPM2	IFIH1	GLRA1	CPT2	SYNJ1	SAMHD1
HP_TYPE_2_MUSCLE_FIBER_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPE_2_MUSCLE_FIBER_ATROPHY	COLQ	ORAI1	CNBP	SARS2	STIM1	LPIN1	CHRNE	LAMB2	GFPT1	SPTBN4	CHRNA1	MT-CO3	CHAT	MT-CO1	CASQ1	ALG14	PNPT1
HP_MUSCLE_FIBER_SPLITTING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_FIBER_SPLITTING	CAPN3	CRYAB	DNAJB6	TRPV4	ANO5	FLNC	NEB	ADSS1	NEFH	TTN	TNXB	ACTA1	MYH7	LDB3	DYSF
HP_VIRAL_INFECTION_INDUCED_RHABDOMYOLYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VIRAL_INFECTION_INDUCED_RHABDOMYOLYSIS	MT-CO3	TSEN15	MT-CO1	TSEN54	LPIN1	TSEN34	TSEN2	ALDOA	SEPSECS	DGUOK
HP_MUSCULAR_DYSTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCULAR_DYSTROPHY	PLEC	COL12A1	TTN	TRAPPC11	FKTN	CHKB	CRPPA	LIPE	TMEM43	B3GALNT2	BAG3	DAG1	POMGNT1	CAPN3	GK	DPM1	NR0B1	COL6A1	FRG1	LMNA	POMT1	CAVIN1	SIL1	TRIM32	POMT2	COL6A2	PIEZO2	NPPA	LARGE1	LIMS2	ACTA1	PNKP	RXYLT1	FKRP	SGCA	TRIP4	CAV3	SMCHD1	AHCY	DYSF	GMPPB	TCAP	ANO5	CRYAB	POMK	DNAJB6	HNRNPA1	SYNE2	INPP5K	EMD	LAMA2	COL6A3	DMD	TNPO3	SGCB	RYR1	DPM3	SELENON	POMGNT2	SCN5A	BUB1B	FHL1	B4GAT1	COL4A1	BUB1	SGCG	SGCD	TOR1AIP1	SYNE1	ITGB4	TRIP13	JAG2	ITGA7	BVES	MYH7	BUB3	CEP57	HNRNPDL
HP_BIRTH_LENGTH_LESS_THAN_3RD_PERCENTILE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIRTH_LENGTH_LESS_THAN_3RD_PERCENTILE	FIG4	ORC1	SMAD4	DYRK1A	EIF2S3	ORC4	SMPD4	CDT1	PLAG1	CDC6	B3GLCT	PIK3R1	TBCE	HMGA2	ORC6
HP_DECREASED_LDL_CHOLESTEROL_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_LDL_CHOLESTEROL_CONCENTRATION	APOC3	FDFT1	MTTP	APOA5	SAR1B	PANK2	ANGPTL3	NGLY1	ALG6	MSMO1	APOB	B4GALT1
HP_LOW_PLASMA_CITRULLINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_PLASMA_CITRULLINE	MT-TL1	MRM2	MT-ND4	MT-TW	PCK1	OTC	MT-ND2	CPS1	MT-TV	MT-TK	MT-ATP6	MT-ND5	MT-ND6	MT-ND3	MT-ND1
HP_INCREASED_TOTAL_BILIRUBIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_TOTAL_BILIRUBIN	CPT2	LRP5	SEC63	KCNN4	PRKCSH	LIPT1	POLG2	TMEM67	PRF1	PIEZO1	SLC4A1	DCDC2	PFKM
HP_CONGENITAL_ONSET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_ONSET	DCT	FKTN	PRKACB	HOXA2	DCC	PYROXD1	TSEN54	LZTFL1	EED	TBCK	BRAF	EXOSC3	ATP5F1A	G6PD	TBCD	ARL6	SLC25A4	ZBTB24	JAG1	ATP2B3	SYT2	TTC26	COX5A	PREPL	COASY	PEX5	LRRC56	KRT5	CTSD	CDSN	SLC2A10	GJA1	TRIP4	RNF13	BRPF1	CHD7	LRP4	BICD2	ARMC9	JAM3	KRT14	SERPINE1	TRAPPC14	PCLO	TSEN15	MARS2	SLC6A9	SEMA3E	GLE1	SLC25A24	EPS8	SLC12A2	MED25	HPGD	SMC1A	KATNB1	NEDD4L	FUT8	COX6A2	NUP37	SREBF1	ZNF335	RYR1	KY	IBA57	FKRP	KARS1	AP4E1	CHAMP1	SLC25A19	AP4M1	RAB3GAP1	MYH7	TASP1	FLT4	RMND1	PSAT1	LAMA2	COG6	NUAK2	WT1	LAMB3	COA5	HK1	HOXB1	TRMT10C	KATNIP	LMNB2	STT3A	PTRH2	CSPP1	CLCNKA	STAMBP	RSPH3	FAT4	NKX2-1	SVIL	FCSK	UQCC3	SCO2	CHKB	PDHX	PIGF	VIM	TMEM231	COL13A1	CHRNB1	NPHS1	IFT172	CCDC39	NR1H4	C2CD3	LIPT2	AFF4	POMT2	MICOS13	NODAL	COL25A1	POMT1	ITGA6	QRICH1	SMARCD2	TUBGCP6	PRR12	TBXT	LSM11	HCN4	COL1A2	CDC40	TARS2	SELENON	TOE1	DCPS	KRT1	OTUD5	HBA1	ATP8A2	PDE4D	AP3B1	USP18	LRTOMT	CNTNAP1	ACKR3	WDR19	NIPAL4	OTOF	GDF3	GMPPB	SPATA5L1	CDK10	HRAS	POMK	STIL	FLNB	LGI4	ERGIC1	SIAH1	GFM1	IGBP1	TFAM	MYSM1	POMGNT1	ASCC1	SLC16A2	ATAD1	ELP1	PPP1CB	SOX18	IGF1R	CEP135	KIF5A	CHRND	NDE1	TRIM36	CLPB	EGR2	F13A1	B4GAT1	WDR81	PAX6	MECP2	CCDC103	NAA10	PIGO	EP300	TELO2	ERCC1	TAF1	PDE6D	ELOVL4	ITPR1	CLDN10	NUP88	NEK8	CCND2	IARS1	LARS2	C2orf69	CASK	CIT	KAT5	YRDC	YIF1B	GDF11	TPM2	MOGS	RALA	GREB1L	KRAS	VPS35L	ABCD4	BSND	CD8A	RIPK4	SNAP25	VLDLR	DONSON	CNOT1	FIG4	GPRASP2	PEX12	TSEN2	PIGG	RARS2	MBTPS2	CA8	PLEC	SLC39A8	ABCA3	MYO7A	IER3IP1	PIGN	TOP3A	NDUFA4	TTN	CENPF	CDK5	MMP1	ACTA1	AP4B1	HDAC4	UROS	DNM2	PHOX2B	HPDL	F2	ELP2	PGAP2	TMPRSS3	DPAGT1	SLC6A6	MYL1	EN1	MPDZ	DPM2	AP3B2	STT3B	DNAAF3	CHMP1A	BCL11B	IFT74	TYR	TUBGCP4	SLC1A4	LAMA3	PLK4	ODAD4	COL7A1	MKS1	BSCL2	ATP6V1B2	GEMIN5	KLHL24	COG1	GLI1	ARHGEF9	POLR3A	UBR7	KPTN	PITX1	NRAS	MBOAT7	KLF1	GGPS1	GSC	BBS9	SLC37A4	ATP11C	CLCNKB	HERC1	LAMC2	NDUFB11	PSMC3	PRKACA	IGF1	EXOC2	RFWD3	NALCN	CHUK	TUBB	DCHS1	CHRNE	ASPM	GSX2	AP1S1	DPH1	PSAP	MEGF10	NCAPG2	ACP5	SPTBN4	PC	DOCK2	DSTYK	CHAT	GLS	VRK1	SSR4	CRB2	MRPS14	KIFBP	RPL10	MPDU1	OFD1	PIGY	AARS1	RRP7A	KIAA1109	BCL11A	MPC1	CLP1	CDCA7	HS2ST1	PI4KA	EBP	ITGA8	AP4S1	NUS1	POLE	TXN2	TMEM70	CIB2	DMXL2	CCDC88C	PLAA	TUBB3	HELLS	SYNE1	ACTG2	RHOA	CENPJ	RAPSN	MFSD2A	TRAPPC12	PRUNE1	F13B	NDUFAF3	FANCF	MRPS22	MRPS16	ALG9	PUF60	ATN1	COQ7	ROBO3	IPO8	CFAP45	ARL2	TPM3	ZC4H2	SHMT2	TBCE	SCN5A	HBG2	EPG5	WDR62	CREB3L1	EIF5A	KANK1	WDR4	ADGRG1	MTO1	UNC45B	DVL1	CAPN15	ITGB4	NDUFA2	LARGE1
HP_ADULT_ONSET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADULT_ONSET	TSC1	EEF2	PARK7	TNFAIP3	AAGAB	GSN	HMGA1	PRNP	PRKAG2	AKT1	ITPR1	SDHA	PARN	APOE	TIA1	GCGR	TERB1	G6PD	RAPGEF2	DES	COCH	TIE1	TFG	SLC19A3	TERT	GDAP2	PLD3	SLC25A13	MME	TBP	HGD	ATXN1	MPZ	CD164	LRP12	SLC2A2	TTN	CCNF	HNF1B	NAGA	IMPG1	CASQ2	SLC25A4	POT1	C1QBP	SLC7A6OS	TOP3A	GBA	TRDN	FOXE3	MPEG1	RNF170	CORIN	CPT1C	LAMA2	NF2	XRCC2	ABCA4	SLC20A2	SPG7	ATP13A2	MN1	PRKCSH	AR	OSMR	LRIF1	DNAH8	POLE	RYR2	NOL3	CASR	SPTLC2	SDHAF2	MTOR	ELMOD3	DNAJB11	CAV3	MED25	TRPC3	TLCD3B	GCK	CP	APTX	GIPC1	PDGFB	TTBK2	IL6	MAPT	AOPEP	C9orf72	ARMC5	PPP1R3A	RPS14	HNF4A	LYST	IKZF1	POLG	INF2	SNCA	RTEL1	UBQLN2	F5	SLC4A11	HNF1A	HKDC1	KIF5A	PSAP	CFHR3	PNKP	SLC37A4	PTPN1	NOTCH3	TNRC6A	MFAP5	GNAS	TMEM240	CPOX	AKT2	TMEM43	THSD1	CAPN3	LIPC	TCF7L2	EPAS1	MICAL1	HSPB1	COQ2	FLNC	GPD2	SCN10A	PRKG1	MUC1	UBA1	JUP	FHOD3	SMARCE1	ACTG1	CFAP58	SMN1	ZNF687	ENO3	TNNI3	ABCC8	MCM6	IRS2	VPS11	TERC	CADM3	M1AP	PLG	AUH	TSC2	CATIP	LMF1	ICOS	RETN	MEFV	TAF1	CCDC39	GNE	CYLD	PABPN1	TGM6	TWNK	FMR1	MYOT	VPS16	ATP1A3	MAGT1	TREX1	CFHR1	MAPK8IP1	NOTCH2NLC	FAT2	LMX1B	CTSF	CHMP2B	XPR1	DCTN1	EIF2AK4	HJV	VCP	PAX4	CSF1R	TBK1	FBN1	MYORG	LDB3	SMCHD1	DGUOK	ATL1	SDHB	TNFRSF13C	WFS1	PIK3CA	PSEN1	BTNL2	TAF4B	WASHC5	ERBB4	CRYAB	CEP78	DNAJB6	UQCRC1	SH3BP2	IFT74	LMNB1	ARHGEF10	SDHD	PTEN	TNPO3	FBXO7	RELN	DPM3	SDHC	SLCO2A1	BSCL2	VPS13D	REC114	IGF2BP2	RCBTB1	BEAN1	SLC30A8	KCNJ11	SPRY2	PNLDC1	NPC1	GBE1	ANO5	SPG11	NUTM2B-AS1	STIM1	STUB1	SAMD12	PPARG	KNG1	FHL1	LMNA	IL36RN	POLG2	CDH23	PDX1	SPAG17	PRKN	LGI1	SOCS1	ANKH	GGCX	TTR	PNPLA2	TECRL	MARCHF6	DRD5	VSX1	JAG2	DMD	SYNE1	SUFU	DNAJC5	TERB2	PDGFRB	ENPP1	NEUROD1	ALDH5A1	MTNR1B	PSEN2	HMCN1	HAMP	IRS1	SEC63	PMVK	MATR3	FTL	DNMT1	DDX41	CLN6	HNRNPDL	DYSF	RFC1	HLA-DRB1	CCDC88C	STARD7	DNMT3B	CASK
HP_LATE_ONSET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LATE_ONSET	ABCC8	HNF1A	IRS2	PAX4	AAGAB	HMGA1	CFHR3	LDB3	ENPP1	NEUROD1	MTNR1B	RETN	MME	PTPN1	HMCN1	IGF2BP2	WFS1	BEAN1	SLC30A8	AKT2	APOE	KCNJ11	CYLD	GCK	THSD1	LIPC	IRS1	TCF7L2	UQCRC1	TIA1	IL6	GPD2	PPARG	PPP1R3A	RPS14	CFHR1	HNF4A	MAPK8IP1	LMX1B	PDX1	SLC2A2	HNF1B
HP_INSIDIOUS_ONSET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INSIDIOUS_ONSET	MPZ	ATXN8OS	GLUD2	PMP22	NR4A2	MAPT	SNCAIP	ATXN2	EIF4G1	NIPA1	ADH1C	TBP	OPA1	SPAST	SNCA	MT-TT	ATL1	WASHC5	GBA
HP_INFANTILE_ONSET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFANTILE_ONSET	RERE	KCNQ2	SLC6A3	TSC1	WDR81	SLC12A5	CHD3	YIPF5	LCK	ACADSB	MECP2	MPV17	DCC	TIMMDC1	PYROXD1	FCGR2A	BRAT1	POLR3K	SLC2A1	RIPK1	MACF1	PDHA1	CWF19L1	AMTN	JAK3	COL6A1	HAX1	FRMPD4	DOCK7	FAR1	KIDINS220	DNAAF5	TCIRG1	G6PD	RAG1	L2HGDH	TBCD	S1PR2	NFE2L2	PLA2G6	LMNB1	COL6A2	PNP	PTCHD1	PAK1	CD164	LRP5	EXOSC5	SUCLA2	TTC26	GATA1	ATAD3A	COX5A	SACS	MMP2	GTPBP2	LMAN2L	SCNN1A	SRCAP	HYDIN	TRAC	RANBP2	EBF3	ERBB2	SI	MLC1	ACOX2	MARS1	GPR101	NLRC4	ATG7	DEF6	PRF1	TOGARAM1	ATP6V0A4	BLNK	ADK	GDAP1	AGK	MFN2	CORO1A	JPH1	LRPPRC	MTR	SNX14	RYR1	RASGRP2	ABCD3	TBC1D24	TH	STAT3	SPTBN2	COX6A2	MTOR	PCDH15	AIMP2	SLC46A1	ARV1	GRIN1	POMK	STX11	SDHD	MED13L	ACADVL	SLC33A1	WDR73	TRAPPC2L	KIF1A	GJB2	TRNT1	COPB1	SCN4A	NCDN	FANCB	PLP1	CPLX1	CD3D	COL6A3	LYST	RUBCN	NDUFAF1	KRT86	ITPA	MTRR	GJC2	NFKBIA	ELANE	UQCC2	IFT140	TMEM94	BRF1	GRID2	ZSWIM6	NLRP3	JAG1	PCDH19	SYT1	CUX2	VPS53	ABCB4	IQSEC2	GNB1	GABRG2	HNMT	DDOST	NDUFB8	MAGEL2	SVIL	TCTN2	PRMT7	MFF	PDE2A	PIGP	TGFB1	HEXB	ANGPT2	DYNC1I2	MRPL3	HADHB	GATM	COG2	CADM3	EEF1A2	AUH	PRX	KRT81	TMX2	IL37	PLG	DNAAF4	MEFV	SLC41A1	NDUFA13	NDUFB9	MIPEP	MUSK	DRC1	CCDC39	CLPX	TMEM251	POMT1	WNK1	IL21	TUBB6	NR1H4	ASH1L	KCNH1	LIPT1	VARS1	MICOS13	DHX30	ARFGEF2	FARSB	FKTN	IMPDH1	TMTC3	NUP214	PTS	CD79B	FERMT3	PRDX1	GRM1	DPAGT1	ISCA1	SLC6A5	CLDN11	KCTD7	RUSC2	NCKAP1L	FRMD7	RPS19	REST	ATP8B1	ADD3	SCN2A	CYP2R1	PLCG2	TGFBI	CALM1	PNKD	ABCB11	ALG11	PCDH12	GCH1	ATP6AP1	CTDP1	KCNJ10	ACTL6B	CFTR	PHIP	PTPRQ	CYP1B1	TLK2	SPATA5L1	SLC39A4	NLRP1	SIL1	SLC34A3	HNRNPH2	GFPT1	SCNN1G	VPS41	RETREG1	DBR1	FOXRED1	TUBGCP2	NLRP12	MMAA	IL2RG	ZAP70	RDX	CEP104	PIGT	WAC	PIK3R1	CPT2	HEXA	TNR	FMN2	EIF2AK3	RPL3L	GON7	ZNF462	TRAPPC9	ROR1	SCNN1B	RPSA	NTRK1	NARS1	PGAP1	ZNFX1	USP53	FLNA	GPHN	ACOX1	ITGA7	HNF1A	NBAS	UBE2A	TUFM	GABRB3	ATP6AP2	RNASET2	TGM3	GNAS	NKX6-2	PRKDC	GJB3	BCS1L	AGO2	AKT1	ADA2	KCNMA1	MVK	CAV1	NBEA	FZD4	MYH7	AMBN	AMMECR1	C2orf69	PIGK	CASK	TNFRSF11A	CAD	YRDC	RINT1	YIF1B	TMEM67	SUPT16H	ERCC4	TNFAIP3	POMC	GPD1	KDM4B	ERCC6	ADAM22	TBX21	CDKL5	PGAP3	TBR1	BCAS3	TTI2	TRIT1	TRPM6	TET2	ALG14	SEPSECS	IKBKB	RNASEH2A	QDPR	HERC2	BOLA3	HEPACAM	PNPT1	SCN9A	PUS3	KCNT2	POLG	LARGE1	MMADHC	HGD	DLAT	RPL35A	CHRNE	HADHA	PSMB8	DOCK8	GFI1B	SLC51A	MPZ	ZMIZ1	FGF13	TRMT1	TTN	SUCLG1	HIKESHI	CARD14	SDHA	CD3E	KCNB1	DLG4	PCK1	HCN4	PSMG2	CXCR4	PDE10A	ILDR1	GPAA1	SLC35A1	CLIC5	PIK3CD	TNPO2	NEXMIF	CUL3	SMPD1	NDUFA10	MYO5A	PHOX2B	HPDL	VDR	NEMF	LAMA3	EDEM3	ZNF142	KDM5B	HUWE1	VPS33A	SLC6A6	CARD11	FOXP1	DDX3X	PARN	ADGRG1	DDB1	AASS	AP3B2	EGR2	GABRB1	ADNP	NDUFV1	MRPS2	WDR26	CHRND	SARS2	MCOLN1	IGLL1	PSAT1	SDHAF1	KLHL7	SLC25A26	PDP1	TJP2	UPB1	TPP2	SPTAN1	PITRM1	IREB2	PMPCA	SLC5A6	GEMIN5	MAST1	COLQ	GP6	LIPA	TBX19	KRT83	CTNNB1	PIGS	DDC	SASH1	CTC1	MTFMT	MYMK	DHPS	ADAT3	RPS26	EPO	GUSB	PHKG2	IL6R	MIA3	SLC7A7	SCN1A	IGHM	SELENON	TK2	NAGA	MRPL44	ZNF407	DPM1	VPS37A	GNB2	HNRNPU	SLC37A4	NDUFS1	DCDC2	GLRB	HIVEP2	KCNA2	AIFM1	VAMP2	EXT2	CHRNA1	TRDN	CD247	CARMIL2	SPR	EXOC2	GABRA1	UVSSA	DSC3	ALS2	GAD1	NEB	CYB5A	ACO2	PI4KA	KMT2E	TSC2	SPECC1L	HCFC1	STXBP2	LMBRD1	CAVIN1	PPP2CA	APC2	PLEKHG2	HCN2	SAR1B	VPS45	MRPS25	HSD17B10	GATAD2B	GRIK2	LCA5	NMNAT1	MMACHC	PET100	NOTCH2NLC	NDUFV2	CHD2	ERCC8	CLCN3	SPEG	SLURP1	BCL10	NOS1AP	SRD5A3	CELF2	NDUFS4	OTULIN	SCN3A	TSHR	ASXL2	ALG13	OPHN1	TRPA1	RFT1	WDR45B	TCF3	PSAP	SLC18A2	CD59	KDELR2	FAM126A	BAAT	TBL1X	DCX	TOM1	BCORL1	CHD1	SLC25A12	EDC3	VAMP1	TXN2	NGF	PMP22	SLC25A38	P4HTM	NGLY1	RAG2	GARS1	NR3C2	NDUFS2	DARS1	MTX2	COL12A1	YWHAG	PNPLA8	IDH3A	RORC	SNAP29	PSPH	YME1L1	SLC6A8	RPGRIP1L	KITLG	CACNA2D2	RPS28	FCHO1	PAX2	SETD1A	GEMIN4	CA12	C12orf57	POMT2	NDUFAF8	IL36RN	PINK1	GLRA1	ADSL	NDUFA8	VARS2	ZMYM2	FCGR3A	TBCE	AP1S2	JAG2	GFAP	SON	COQ6	EARS2	ALDH5A1	CD19	GRIN2D	CCDC115	NEUROD2	AFG3L2	COX10	DAG1	PRKG2	SOST	DEAF1	PERP	HIBCH	NDUFC2	COX4I2	ATPAF2	ADGRV1	MID2	METTL23	UNC45B	RAB27A	ADAR	KIF12	MRPS7	NARS2	TRIOBP
HP_MIDDLE_AGE_ONSET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MIDDLE_AGE_ONSET	RELN	LRIF1	VCP	HKDC1	DRD5	PSAP	CADM3	FBN1	SPTLC2	APOE	PSEN2	MME	SLC37A4	TMEM240	SDHA	CYLD	G6PD	THSD1	MICAL1	PMVK	UQCRC1	VPS16	TIA1	FTL	UBA1	KNG1	LMNA	NOTCH2NLC	IKZF1	MPZ	LMX1B	LRP12	CHMP2B	CCNF	PRKN	LGI1	SNCA	SOCS1	CASK	EIF2AK4
HP_ANTIPHOSPHOLIPID_ANTIBODY_POSITIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTIPHOSPHOLIPID_ANTIBODY_POSITIVITY	FASLG	CTLA4	ADA2	FCGR2A	FAS	STING1	CASP10	STAT1	TREX1	SPP1	PTPN22	PRKCD	DNASE1	FCGR2B	IRAK1	RASGRP1	DEF6	STAT4
HP_JUVENILE_ONSET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JUVENILE_ONSET	CYBA	CC2D1A	EIF2B1	MCM6	EIF2B4	TACO1	UMOD	TNFAIP3	LITAF	PYROXD1	PRKAG2	PI4KA	ITK	PNPLA6	CHST6	GALNS	TPP1	MYH9	PLP1	MEFV	ITPR1	CCDC39	PMP22	G6PD	PET117	PANK4	NUP133	ARL3	VPS16	TIE1	DNM2	SLC19A3	WARS1	ACP5	MAGT1	CACNB4	NLRP3	RYR1	TGFB1	NLGN4X	NKX2-1	CLCN7	LMX1B	LRP12	ATP2B3	EIF2B5	CYBB	EIF2AK4	CASQ2	NEFL	EMD	SLC7A6OS	MMP2	HPCA	NDUFAF6	KIRREL1	EXT1	CARD10	CASP10	GLA	ATP7A	TRDN	HSCB	FBN1	CTNS	GALNT3	TPM3	TRPV4	REST	PDCD10	LAMA2	ATP8B1	ABCA4	PIK3CD	ATP13A2	MFSD8	NCF2	IMPG2	BAAT	ASAH1	SH3BP2	TOM1	DEF6	GFPT1	CSTB	TNFRSF4	NCF1	DDB1	TNPO3	SGCB	SBF2	ADCY5	EIF2B2	RELN	DAAM2	DPM3	PYGM	SLCO2A1	BSCL2	CLDN16	PAPPA2	RYR2	NAGLU	EGR2	CFI	CASR	SLC19A1	SPTLC2	DBR1	IDH3A	LDHA	RCBTB1	GAL	TLCD3B	MPZ	APTX	NPC1	NUP107	LIPA	STAT3	AOPEP	COX20	LMNA	LMNB2	IL36RN	SCN9A	IKZF1	NPHS2	ABCB7	ALS2	PRKN	LGI1	PHKG2	SOCS1	GAN	RETREG1	FXN	TECRL	SPG11	SGCE	NLGN3	ZNFX1	USP53	JAG2	ALDH5A1	CD19	DOK7	SLC37A4	GLB1	GNAS	SMPD1	EXT2	TREX1	EIF2B3	SLC12A3	MICAL1	ISCU	HPDL	PRKG2	PANK2	COL9A1	MPV17	ADA2	SLC52A3	KCNA1	SGCA	CBLIF	KIF12	SVIL	CFH	CD4	MIEF2	TNNI3	NDRG1	DDHD1	GIMAP5	CPA6	CASK
HP_NEONATAL_ONSET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_ONSET	CYP7B1	SUPT16H	MRPL3	NDUFAF4	GAD1	SFTPB	HADHB	MYO1H	STING1	ASL	ARHGDIA	MYL2	RIPK1	TP73	DRC1	NR1H4	HSPD1	CYP11B1	SPTBN4	RP1L1	NLRP3	PSMB10	HADHA	CLCN3	NLRC4	HSD17B4	FGF13	SMARCAD1	GRIK2	NOS1AP	CELF2	KRT5	SUCLG1	SCN3A	STXBP1	KCNB1	ATP6AP2	COX16	GDAP1	EBF3	ACADS	MARS1	PHOX2B	CALM1	AQP2	HPDL	LBX1	ATP6V0A4	MINPP1	ATP6AP1	AP3B2	ARX	ARG1	SLC35A2	HSD3B7	RYR1	COL12A1	CYP11B2	TJP2	SLC10A1	IL2RG	SLC10A2	SLC1A2	ACADVL	ARL13B	OXCT1	TRNT1	NEUROG3	STX3	STAT3	MMAB	SELENOI	IL36RN	LYST	RPL3L	AVPR2	PIGU	IL1RN	TNNT1	IRS4	UPF3B	SHMT2	USP53	KCNJ11	KRT14	SCN9A	SLC51B	AMACR	HYOU1	TMEM240	KCNQ2	PPP1R21	COX10	ASS1	LAMB2	SH3PXD2B	ADA2	AKR1D1	BRAF	KIF12	MCIDAS	CARMIL2	C2orf69	PIGP	DNAL1	TNFRSF11A
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	PLIN1	LMNA	LMNB2	PPARG	LIPE	CIDEC	ZMPSTE24	CAV1
HP_HEMOGLOBINURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMOGLOBINURIA	PIGA	NT5C3A	CD59	PIEZO1	PIGT	CASK	CD46	CFH	G6PD	CFI	HELLPAR
HP_TYPE_I_TRANSFERRIN_ISOFORM_PROFILE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPE_I_TRANSFERRIN_ISOFORM_PROFILE	MPI	DPM3	ALG11	MPDU1	ALG3	ALG1	ALG6	SRD5A3	DPM1	DDOST	DPAGT1	ALG2	MAGT1	DOLK	ALG8	DPM2	ALG13	SSR4	PMM2
HP_PROLONGED_PARTIAL_THROMBOPLASTIN_TIME	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLONGED_PARTIAL_THROMBOPLASTIN_TIME	AKR1D1	F5	ALG12	HLA-DQA1	DPM1	F10	ABCD3	LZTR1	SLC37A4	PGM1	F11	F2	B4GALT1	MCFD2	GATA6	EFL1	F8	GGCX	F12	F9	SOS1	LMAN1	KLKB1	GNE	PMM2	HLA-DQB1
HP_BICARBONATURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BICARBONATURIA	SLC34A1	NDUFAF6	EHHADH	GATM	OCRL	ALDOB
HP_LACTICACIDURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACTICACIDURIA	PET117	MT-TL1	SLC25A21	MT-ND4	MT-TW	NDUFS4	SUCLG1	NFS1	MT-ND2	MT-TV	LDHD	MT-TK	PDP1	GATM	MT-ATP6	NDUFB10	MT-ND5	MT-ND6	MT-ND3	SDHD	MT-ND1
HP_FOAM_CELLS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOAM_CELLS	ASAH1	NPC1	GLB1	NEU1	SMPD1	CSF2RA	LIPA	SC5D	NPC2	HLA-DRB1	CSF2RB	LCAT
HP_RECURRENT_MYOGLOBINURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_MYOGLOBINURIA	MT-CO3	COQ2	PYGM	MT-CO1	LPIN1
HP_HYPOMETHIONINEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOMETHIONINEMIA	MMADHC	MMACHC	PRDX1	MTR	MTRR	MTHFR
HP_ONSET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ONSET	UMOD	TIMMDC1	PYROXD1	REL	TSEN54	GSN	LZTFL1	FCGR2A	PRKAG2	SLC2A1	JAK3	PARN	APOE	TCIRG1	DES	S1PR2	SLC25A4	ATXN1	SOS1	PAK1	CD164	LRP5	CCNF	EXOSC5	SUCLA2	POT1	COASY	GTPBP2	SCN1A	FOXE3	SRCAP	TRAC	GJA1	TRIP4	SI	LAMA2	RNF13	MARS1	ASAH1	DEF6	PRF1	TOGARAM1	ATP6V0A4	BLNK	ADK	SERPINE1	OSMR	MED25	HPGD	POLE	RASGRP2	STAT3	SDHAF2	KIDINS220	SDHD	MED13L	PDGFB	OXCT1	MAPT	NCDN	IBA57	AP4E1	LYST	RAB3GAP1	KRT86	ITPA	GJC2	IL1RN	NFKBIA	RMND1	JAG1	RTEL1	PSAT1	TMEM94	TGFBR1	BRF1	NUAK2	GRID2	PNKP	SYT1	CUX2	AKT2	KCNQ2	WT1	THSD1	GNB1	KATNIP	PTRH2	CLCNKA	STAMBP	FHOD3	TCTN2	TNNI3	CC2D1A	AIRE	DYNC1I2	GATM	EEF1A2	AUH	PNPLA6	COL13A1	NPHS1	CCDC39	WNK1	IL21	FMR1	ALAS2	DNM2	VARS1	ARFGEF2	CACNB4	NODAL	NUP214	COL25A1	QRICH1	CHMP2B	TUBGCP6	COL1A1	NLRC4	DPAGT1	LSM11	CSF1R	SLC6A5	RUSC2	SDHB	DCPS	PDE4D	SCN2A	DNAJB6	PLCG2	WDR19	IFT74	ABCB11	NIPAL4	COL6A2	GCH1	ATP6AP1	ACTL6B	ADCY5	TLK2	SDHC	SPATA5L1	LGI4	ERGIC1	NLRP1	SIAH1	CNP	PTEN	EMC10	DBR1	FOXRED1	SLC16A2	TUBGCP2	RCBTB1	ARL13B	MMAB	PIGT	GJB2	FHL1	PIK3R1	CDH23	PDX1	AVPR2	CLPB	LGI1	F13A1	B4GAT1	GGCX	WDR81	SCNN1B	MECP2	GPHN	ITGA7	TELO2	LMOD1	ATP6AP2	SMPD1	SEC63	HPDL	PMVK	CLDN10	CCND2	IARS1	ATP1A2	LARS2	SGCA	AMBN	PIGK	SAMD9	YIF1B	SUPT16H	ERCC4	AAGAB	RALA	GREB1L	RAD21	ERCC6	MYH9	VLDLR	TIA1	IKBKB	QDPR	FIG4	HERC2	HSPD1	PIGG	SLC19A3	SLC25A13	POLG	MBTPS2	NLRP3	DLAT	NKX2-1	RPL35A	LRP12	GFI1B	NAGA	ZMIZ1	CRB1	FGF13	CENPF	HIKESHI	CDK5	SDHA	GALNT3	PCK1	ACTA1	PSMG2	RNF170	ILDR1	UROS	SCUBE3	FKTN	MYO5A	AQP5	CARD11	EN1	SGCB	AASS	AP3B2	EGR2	GABRB1	EIF2B2	ARG1	TACSTD2	RYR2	KLHL7	SLC25A26	TJP2	MKS1	SPTAN1	PITRM1	IREB2	TRPC3	CP	NUP107	LIPA	TBX19	GLI1	DDC	SELENOI	MTFMT	POMT1	UBR7	GAN	RETREG1	SGCE	NLGN3	KLF1	CYP11B2	GSC	ATP11C	MPZ	DCDC2	EPAS1	COQ2	HIVEP2	KCNA2	NDUFB11	AIFM1	TRDN	CD247	TBC1D24	ENO3	IGF1	GABRA1	COL7A1	NALCN	TBC1D2B	VPS11	TERC	CYB5A	ITK	AP1S1	TWNK	VPS16	HCN2	MEGF10	MRPS25	HSD17B10	GRIK2	SPTBN4	PC	DOCK2	NDUFV2	GLS	XPR1	SPEG	KIFBP	NOS1AP	MYORG	STXBP1	KIAA1109	ALG13	MPC1	RFT1	TCF3	WASHC5	NCF2	UQCRC1	EBP	CD59	FAM126A	TBL1X	DCX	AP4S1	LBR	NCF1	CIB2	SLC25A38	PLAA	BSCL2	NDUFS2	COL12A1	RTN4IP1	IDH3A	TRAPPC12	PRUNE1	GLUL	FANCF	RPGRIP1L	MRPS22	MYH7	ANO5	FCHO1	NUTM2B-AS1	LMNA	C12orf57	NDUFAF8	ATN1	CHRNA4	POLG2	ADSL	ABHD12	ROBO3	RYR1	SOCS1	TPM3	NDUFA8	ZMYM2	FCGR3A	SPG11	AAAS	KRT14	EARS2	CCDC115	EIF2B3	DAG1	ISCU	SOST	SLC34A2	MPV17	COX4I2	CLN6	MID2	UNC45B	RAB27A	CCDC88C	DCT	YIPF5	ACADSB	PRKACB	HMGA1	POLR3K	BRAF	PDHA1	GARS1	CWF19L1	AMTN	TPP1	DIAPH1	COL6A1	FRMPD4	ITPR1	TERB1	G6PD	RAG1	RAPGEF2	TBCD	NFE2L2	NUP133	TIE1	WARS1	PRPS1	HNF1B	CFB	CASQ2	SYT2	GATA1	ATAD3A	COX5A	SACS	KRT5	ATP7A	LMAN2L	HYDIN	RANBP2	BRPF1	OBSL1	MN1	MS4A1	SNRPN	SBF2	AGK	MFN2	SLC25A24	EPS8	SLC12A2	SMC1A	NAGLU	FUT8	CASR	MTOR	AIMP2	SREBF1	ZNF335	POMK	TLCD3B	WDR73	TRAPPC2L	KIF1A	CD3D	HNF4A	AP4M1	IKZF1	RUBCN	SNCA	TASP1	ELANE	FLT4	PMP22	HNF1A	COG6	DOK7	MFAP5	FLG	VPS53	ABCB4	HABP2	PLA2G6	LIPC	COA5	HK1	HOXB1	TRMT10C	RSPH3	ACTG1	FAT4	PRMT7	PDE2A	FCSK	UQCC3	SCO2	HEXB	CHKB	PIGF	COG2	VIM	LMF1	PLG	IFT172	MEFV	MUSK	CLPX	TMEM251	CYLD	TUBB6	MYOT	ARL3	ASH1L	POMT2	KCNH1	MICOS13	CFHR1	IMPDH1	TMTC3	SMARCD2	EIF2B5	PRR12	CLDN11	FBN1	LDB3	KCTD7	SELENON	TNFRSF13C	TOE1	NCKAP1L	FRMD7	WFS1	HBA1	FARSA	ATP8A2	CRYAB	CEP78	ADD3	AP3B1	CYP2R1	ACKR3	OTOF	GDF3	CDK10	STIL	CYP1B1	PAPPA2	VPS13D	GFPT1	MYSM1	SLC19A1	VPS41	POMGNT1	REC114	IGF2BP2	ELP1	PPP1CB	KCNJ11	CEP135	RDX	HEXA	FMN2	RPL3L	PRKN	ZNF462	ROR1	NARS1	PNPLA2	CCDC103	USP53	DRD5	FLNA	PIGO	UBE2A	GABRB3	RNASET2	PRKAR1A	MME	TGM3	AMACR	HAMP	DCTN1	ELOVL4	NKX6-2	IRS1	PRKDC	NEK8	GJB3	FTL	BCS1L	AKT1	DYSF	FZD4	DNMT3B	DNAL1	CIT	TMEM67	GDF11	TNFAIP3	MOGS	GPD1	ADAM22	ABCD4	CDKL5	TRPM6	FRG1	GCGR	CNOT1	GPRASP2	TSEN2	SCN9A	PUS3	TFG	LARGE1	CA8	PLEC	SLC39A8	ABCA3	HADHA	PSMB8	DOCK8	MYO7A	IER3IP1	XYLT1	SLC7A6OS	KIRREL1	TTN	CARD14	CD3E	MPEG1	CPT1C	PDE10A	HDAC4	SLC35A1	NF2	XRCC2	SLC20A2	PHOX2B	NEMF	LAMA3	AR	HUWE1	FOXP1	ADGRG1	MPDZ	STT3B	DNAAF3	MRPS2	WDR26	CHMP1A	LRIF1	KIF5C	LDHA	PMPCA	SLC5A6	CHRND	KLHL24	C9orf72	PLEKHG5	XPC	CTC1	DHPS	ADAT3	KPTN	GUSB	PHKG2	NRAS	UBQLN2	KIF3B	FXN	UPF3B	MRPL44	FECH	KIF5A	PSAP	BBS9	TNRC6A	GNAS	MICAL1	ASS1	PEPD	PANK2	COL9A1	LAMC2	PRKG1	MUC1	VAMP2	PRKACA	CARMIL2	SPR	SMPX	DSC3	CHRNE	MVK	PI4KA	CATIP	CHST6	TAF1	SPECC1L	PABPN1	HCFC1	TGM6	STXBP2	PLEKHG2	ATP1A3	SAR1B	CHD2	CLCN3	SSR4	SLURP1	NDUFAF6	NDUFS4	TRPV4	ACADS	PSEN1	ITGA8	IMPG2	KDELR2	BAAT	TMEM70	NGF	NGLY1	RELN	SLCO2A1	NR3C2	HELLS	DARS1	MTX2	SYNE1	ACTG2	FLVCR1	SLC30A8	RORC	NDUFAF3	IL21R	KITLG	SAMD12	MRPS16	SETD1A	CA12	COQ7	ALS2	CFAP45	ARL2	IRS4	TTR	SHMT2	JAG2	ZNF711	SCN5A	COQ6	HBG2	CD19	GRIN2D	PPP1R21	COL9A2	PRKG2	KANK1	TMEM218	WDR4	HIBCH	DNMT1	ATPAF2	METTL23	MTO1	ITGB4	RERE	SLC6A3	DCC	EED	BRAT1	TBCK	RIPK1	MACF1	EXOSC3	POLA1	DOCK7	FAR1	ATP5F1A	DNAAF5	L2HGDH	PLD3	PNP	PTCHD1	SLC2A2	ATP2B3	TTC26	NEFL	C1QBP	EMD	BIN1	LRRC56	CTSD	SCNN1A	SLC2A10	EBF3	ACOX2	SPG7	LRP4	BICD2	TRAPPC14	PCLO	MARS2	GDAP1	SLC6A9	CORO1A	SEMA3E	PYGM	JPH1	KATNB1	MTR	HSD3B7	SNX14	ABCD3	TH	PCDH15	ELMOD3	DNAJB11	SLC46A1	NUP37	SLC33A1	CYP26B1	KY	NEUROG3	COPB1	SCN4A	FANCB	FKRP	KARS1	PLP1	CPLX1	CHRNA1	CHAMP1	COL6A3	SLC25A19	NDUFAF1	MTRR	F5	ZSWIM6	HYOU1	TCF7L2	HSPB1	GABRG2	NPC2	AKR1D1	JUP	PDHX	ANGPT2	TMEM231	CADM3	PRX	TMX2	IL37	GALNS	NDUFA13	MIPEP	DRC1	GNE	NR1H4	C2CD3	LIPT2	LIPT1	DHX30	FARSB	RP1L1	TGFB1	PTS	CD79B	TBXT	COL1A2	TBK1	DGUOK	KRT1	OTUD5	REST	PIK3CA	BTNL2	ERBB4	ATP8B1	USP18	LRTOMT	TGFBI	CALM1	PNKD	SH3BP2	GMPPB	PCDH12	DMD	CLCN1	TNPO3	HRAS	ARX	PHIP	SIL1	GFM1	IGBP1	SCNN1G	ASCC1	NLRP12	VWA1	IGF1R	GBA	ZIC2	STIM1	MTHFR	STUB1	CEP104	PPARG	CPT2	TNR	EIF2AK3	GON7	PIGU	TRAPPC9	ANKH	PAX6	RPSA	NTRK1	PGAP1	TECRL	ZNFX1	EP300	MTNR1B	PDE6D	TREX1	MATR3	NUP88	KIAA0753	F2	ADA2	KCNA1	RFC1	CAV1	HLA-DRB1	CASK	TNFRSF11A	EEF2	YRDC	RINT1	TPM2	LITAF	KRAS	KDM4B	TBX21	BSND	MYL2	CD8A	TBR1	RIPK4	BCAS3	TTI2	TRIT1	DONSON	PET117	PEX12	COCH	KIF20A	KCNT2	TBP	MMADHC	HGD	TRMT1	PIGN	PLCE1	SUCLG1	CTNS	MMP1	HCN4	COX16	CXCR4	AP4B1	GPAA1	OCRL	CUBN	ABCA4	PROM1	TNPO2	NEXMIF	NDUFA10	PRKCSH	VDR	ELP2	EDEM3	DDX3X	DPM2	ADNP	SDHAF1	SLC1A4	CFI	PLK4	UPB1	TPP2	SLC10A1	ATP6V1B2	COG1	COLQ	GP6	KRT83	AOPEP	ARMC5	PPP1R3A	PIGS	RPS14	LMNB2	SASH1	INF2	SPG21	NPHS2	PRNP	PITX1	TNNT1	TK2	GGPS1	NDUFS1	CAPN3	GLRB	HERC1	GPD2	PSMC3	EXT2	SMARCE1	CFAP58	ZNF687	CFH	CPA6	UVSSA	RFWD3	GAD1	NEB	ASPM	ARHGDIA	KMT2E	GSX2	PANK4	APC2	GATAD2B	CYP11B1	MAGT1	LCA5	NMNAT1	ACSL4	CHAT	NOTCH2NLC	LMX1B	CTSF	VRK1	EIF2AK4	CRB2	MRPS14	SMARCAD1	PAX4	RPL10	BCL10	BICC1	EXT1	MPDU1	OTULIN	PIGY	SMCHD1	ASXL2	WDR45B	RNF2	CDCA7	AQP2	BCORL1	CHD1	ARHGEF10	SLC25A12	EDC3	VAMP1	LBX1	TXN2	YWHAG	PNPLA8	CENPJ	PSPH	SPRY2	STX3	PAX2	KIF1B	COX20	GEMIN4	ALG9	KNG1	IL36RN	PINK1	TERB2	GFAP	SON	PDGFRB	ENPP1	NEUROD1	PSEN2	EPG5	WDR62	KCNMA1	PERP	SH3PXD2B	ADGRV1	HNRNPDL	DVL1	KIF12	CD4	SPART	NDUFA2	TSC1	SLC12A5	CHD3	CYP7B1	LCK	SFTPB	MYO1H	HOXA2	HAX1	ARL6	LMNB1	COPA	ZBTB24	PSMB10	IMPG1	PREPL	MMP2	TOP3A	PEX5	HPCA	CDSN	HSCB	CORIN	ERBB2	MLC1	ATP13A2	CHD7	ARMC9	GPR101	ATG7	JAM3	CSTB	TNFRSF4	TSEN15	GLE1	DAAM2	LRPPRC	NEDD4L	SPTBN2	COX6A2	ARV1	GRIN1	STX11	APTX	ACADVL	TRNT1	CHUK	CCT5	MYH11	UQCC2	IFT140	HKDC1	CFHR3	PCDH19	NOTCH3	CYP3A4	CPOX	IQSEC2	TMEM43	LAMB3	STT3A	HNMT	SCN10A	DDOST	CSPP1	NDUFB8	UBA1	MAGEL2	FGD4	SVIL	RPS29	MFF	PIGP	EIF2B1	EIF2B4	TACO1	IRS2	MRPL3	GBF1	HADHB	M1AP	TP73	KRT81	CHRNB1	RETN	DNAAF4	SLC41A1	GNB2	NDUFB9	AFF4	NLGN4X	MAPK8IP1	ITGA6	CYBB	HJV	FERMT3	PRDX1	GRM1	VCP	ISCA1	PPT1	CASP10	CDC40	ATL1	TARS2	RPS19	TIMM8A	MFSD8	CNTNAP1	ALG11	MCM10	CTDP1	FBXO7	KCNJ10	CFTR	FLNB	PTPRQ	DPM3	SLC39A4	SLC34A3	HNRNPH2	TFAM	MMAA	IL2RG	ATAD1	ZAP70	SOX18	WAC	NDE1	TRIM36	NAA10	ACOX1	SUFU	SLC51B	SYNE2	NBAS	TUFM	ERCC1	AGO2	DDX41	CBLIF	NBEA	MCIDAS	AMMECR1	C2orf69	CAD	KAT5	PARK7	POMC	NDUFAF4	STING1	VPS35L	ASL	PGAP3	SNAP25	TET2	PLEKHM1	ALG14	SEPSECS	RNASEH2A	BOLA3	HEPACAM	PNPT1	RARS2	TERT	GDAP2	LIMS2	CLCN7	SLC51A	HSD17B4	NDUFA4	CARD10	KCNB1	DLG4	MNS1	CLIC5	PIK3CD	CUL3	PGAP2	ZNF142	KDM5B	TMPRSS3	VPS33A	SLC6A6	MYL1	MINPP1	DDB1	NDUFV1	BCL11B	SARS2	SLC35A2	DNAH8	MCOLN1	IGLL1	TYR	TUBGCP4	LACC1	NOL3	DYNC1H1	PDP1	SPTLC2	ODAD4	CAV3	GAL	GCK	GIPC1	GEMIN5	MAST1	TTBK2	IL6	CTNNB1	MYMK	ARHGEF9	RPS26	POLR3A	EPO	IL6R	MIA3	SLC7A7	IGHM	MBOAT7	SLC4A11	ZNF407	DPM1	VPS37A	HNRNPU	SLC37A4	PTPN1	GLB1	NFKB2	TMEM240	CLCNKB	SLC12A3	LAMB2	FLNC	SMN1	NDRG1	GIMAP5	EXOC2	CYBA	ABCC8	MCM6	TUBB	DCHS1	ACO2	UFSP2	TSC2	ICOS	DPH1	LMBRD1	CAVIN1	PPP2CA	DYNC2LI1	VPS45	NCAPG2	ACP5	DSTYK	MMACHC	PET100	GUCY2D	FAT2	ERCC8	SRD5A3	CELF2	GLA	OFD1	SCN3A	TSHR	AARS1	RRP7A	BCL11A	OPHN1	TRPA1	PDCD10	TAF4B	CLP1	HS2ST1	SLC18A2	TOM1	NUS1	DMXL2	P4HTM	RAG2	TUBB3	CLDN16	RHOA	RAPSN	MFSD2A	BEAN1	SNAP29	PDE11A	F13B	SLC10A2	YME1L1	SLC6A8	SLC1A2	PNLDC1	SLC5A7	NPC1	GBE1	CACNA2D2	BANF1	RPS28	PUF60	GLRA1	ABCB7	SPAG17	IPO8	ZC4H2	VARS2	MARCHF6	TBCE	AP1S2	VSX1	DNAJC5	ALDH5A1	NEUROD2	HMCN1	CREB3L1	AFG3L2	COX10	EIF5A	COA8	DEAF1	NDUFC2	SLC52A3	CAPN15	ADAR	MRPS7	NARS2	STARD7	MIEF2	DDHD1	TRIOBP
HP_PROGRESSIVE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE	SLC6A3	CAD	UBAP1	SMAD9	LMNB2	MYO1E	UMOD	MPV17	NALCN	SLC9A1	ABCD1	VPS13A	PIEZO2	COL6A1	INF2	PIK3R5	MGME1	PCNA	YARS2	MYH14	COCH	NUP133	MRPS34	COL6A2	TRAK1	RARS2	LIMS2	HINT1	TBP	TYMP	PYCR2	ANTXR2	SYNJ1	MECR	NDUFS7	SBF1	KIF1C	DRD3	CRAT	LAMB1	SLC25A4	NBEAL2	PLCE1	TBC1D24	ISCA2	KIF1A	POLR3A	MTRFR	SLC44A4	DMXL2	CSF1R	ANO5	ALS2	SLC20A2	KIF5A	C19orf12	MARS1	ASAH1	SNCAIP	HPDL	ELP2	NIPA1	ADK	FA2H	PCLO	SLC12A6	GBA2	AP5Z1	CHRND	CHCHD10	GOSR2	PRICKLE1	INPP5K	ABCD3	TJP2	AIMP2	DNAJB11	SGPL1	IREB2	TRPC3	IRF2BPL	SLC33A1	PDGFB	TRAPPC2L	GEMIN5	NUP107	STIM1	MECP2	LYRM7	IBA57	DNMT1	POLR3B	COL6A3	CTC1	PRDM8	RUBCN	TNFRSF11A	TUBB4A	FIG4	UBQLN2	TK2	ADA2	RETREG1	FAN1	MRE11	SQSTM1	COPB2	NDUFAF2	NAGLU	MAPT	DPM1	RNASEH2C	KCNC1	DDHD2	PMPCB	ATXN3	REPS1	TNFRSF11B	OPA1	MAP2K1	DEGS1	NDUFS1	VPS53	DCDC2	PDXK	PLA2G6	STUB1	COL4A4	COQ2	PTRH2	NEFH	ACER3	AIFM1	FHL1	HK1	SNCA	MFF	ASNS	CCNO	QARS1	KCTD17	ATXN8OS	VCP	POLG	ALDH18A1	GNS	ERLIN2	PNPLA6	DNM1L	WT1	NDUFB9	MT-TT	PKD2	MED17	POMGNT1	PABPN1	LMNA	GLUD2	TWNK	CERS1	VARS1	MICOS13	KCNT1	PUM1	TREX1	NUP214	SNORD118	KLC2	RBCK1	CTSF	VRK1	UBA5	SLC52A2	XPR1	KCNQ4	TTN	MAPKBP1	KMT2B	ISCA1	TBK1	COASY	MYORG	KCTD7	ATL1	COL4A3	WDR45B	WASHC5	HSPD1	EPRS1	NUP93	ZFYVE26	AARS2	NDUFA12	LMNB1	TXN2	BSCL2	BRAT1	PRKRA	SMN2	NOP56	SEC61A1	NR4A2	DARS1	SYNE1	CFHR5	ATXN2	TFAM	PNPLA8	ADH1C	RRM2B	MFSD2A	TRAPPC12	PRUNE1	RNASEH1	DGKE	ATAD1	ELP1	SPRY2	GBA	UCHL1	SOX18	NUP160	SPG11	COQ8B	GPT2	B4GALNT1	MOCS2	POLG2	NUP85	RTN2	CLPB	PEX16	AGTPBP1	COL4A5	EXOSC9	KCNK3	TTR	SIGMAR1	FKTN	TBCE	AAAS	JAG2	GRHL2	SETX	PDGFRB	EMC1	AIMP1	ERLIN1	GNAS	NKX6-2	AFG3L2	VAC14	DIABLO	SOST	CACNA1A	SMN1	MOCS1	FTL	AKT1	SLC52A3	MTAP	TRAPPC6B	VPS13C	XRCC1	SGCA	SPAST	CYP7B1	SLC39A14
HP_SLOWLY_PROGRESSIVE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLOWLY_PROGRESSIVE	KIF1A	AIFM1	EEF2	COA7	PARK7	VWA3B	CHKB	SPG11	MECP2	SLC25A4	ALS2	PYROXD1	SCN9A	ATP1A1	DAB1	ERLIN2	CHCHD10	SETX	GARS1	CWF19L1	TPP1	NLRP3	KBTBD13	NDUFA13	FBXO38	FRG1	ITPR1	TIA1	POMT1	WNK1	CRPPA	TGM6	ATP6AP2	ACTA1	FARS2	COL6A2	TRIM32	GRM1	MYOT	DZIP1L	ORAI1	TFG	GDAP2	PLD3	ADSS1	WARS1	MME	DNAJB2	MORC2	FAT2	PMP22	LRP5	LRP12	TTN	ALDH18A1	MARS1	IGHMBP2	DCTN1	TBC1D24	EMD	DPAGT1	HPCA	MAP3K20	ATP7A	ACTN4	DNM2	MYPN	PDE8B	PDK3	KCND3	DYSF	CPT1C	MAG	HEPACAM	AP4B1	LMNA	LAMA2	CRYAB	DNAJB6	CLCN5	LRSAM1	AFG3L2	AR	COL6A1	PEX10	PEX2	DARS2	COL6A3	GBA2	POGLUT1	ALG14	FBXO7	MTPAP	TENM4	RYR1	NOL3	FLVCR1	C19orf12	DYNC1H1	RETREG1	SPTBN2	VMA21	MYH7	PMP2	FN1	TEAD1	PRX	DNAJC6	MPZ	SLC5A7	GBE1	MFN2	SYT14	NEFL	KY	MTMR14	STIM1	SIGMAR1	KIF1B	FZD6	PLP1	CFL2	MCM2	B4GALNT1	PINK1	MYMK	SPG21	ABHD12	TOR1AIP1	HSPB3	GAN	COX6A1	CACNA1G	PNPLA2	PDYN	ALG2	SURF1	SYNE1	DNA2	FLNC	MCM3AP	RNASET2	IBA57	FGF14	TMEM240	TMEM43	GYG1	BSCL2	HSPB1	GJB1	SLC34A2	ELOVL5	PANK2	PRKCG	KCNC3	CLN8	GNB4	LRRK2	HNRNPDL	RFC1	REEP2	CCDC88C	FZD4	SMN1	DNM1L	DDHD1
HP_RAPIDLY_PROGRESSIVE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RAPIDLY_PROGRESSIVE	APOE	HLA-DQB1	DYSF	TARDBP	NAXE	CSF1R	BAG3	ARHGDIA	DNAJC5	PEX10	NHLRC1	COQ6	NPHS1	FHL1	PLEC	PSEN1	DCTN1	DNAJC6	NR1H4	ATP13A2	MFSD8	EPM2A	LYRM7	C9orf72	SCARB2	POLG	GDAP1	PLEKHG5	PANK2	SGCG	PLA2G6	PRNP	NPHS2	CRYAB	GRN	SNCA	PNKP
HP_PACE_OF_PROGRESSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PACE_OF_PROGRESSION	SLC6A3	UBAP1	LMNB2	COA7	MYO1E	TARDBP	NAXE	MECP2	SLC25A4	UMOD	MPV17	PYROXD1	NALCN	SLC9A1	CHCHD10	ABCD1	YEATS2	GARS1	CWF19L1	TPP1	NLRP3	FBXO38	COL6A1	ITPR1	PLEC	INF2	PIK3R5	PCNA	YARS2	NUP133	MRPS34	COL6A2	PLD3	ADSS1	WARS1	HINT1	TBP	PYCR2	ANTXR2	LRP5	TTN	ATP2B3	IGHMBP2	TBC1D24	NDUFS7	SBF1	DRD3	CRAT	LAMB1	EMD	NBEAL2	HPCA	MAP3K20	ATP7A	ISCA2	POLR3A	MTRFR	PDK3	SLC44A4	LAMA2	ALS2	ATP13A2	C19orf12	LRSAM1	MARS1	ASAH1	NIPA1	ADK	FA2H	PCLO	COL6A3	GOSR2	TENM4	PRICKLE1	RYR1	ABCD3	SPTBN2	AIMP2	DNAJB11	COL4A3	SGPL1	DNAJC6	IRF2BPL	SLC33A1	PDGFB	TRAPPC2L	KIF1A	STIM1	KY	MTMR14	LYRM7	IBA57	DNMT1	PLP1	SGCG	PLA2G6	RUBCN	TNFRSF11A	SNCA	TUBB4A	FIG4	PMP22	ADA2	MRE11	SQSTM1	COPB2	NDUFAF2	MAPT	RNASEH2C	MYOT	ATXN3	SCN8A	REPS1	MAP2K1	DEGS1	VPS53	TMEM43	GYG1	PDXK	STUB1	HOXB1	COL4A4	HSPB1	PTRH2	GNB4	FHL1	HK1	MFF	DYNC1H1	KCTD17	VCP	AIFM1	CLDN14	VWA3B	CHKB	ALDH18A1	BAG3	PEX10	DAB1	NHLRC1	ERLIN2	PNPLA6	NPHS1	DNM1L	WT1	NDUFA13	NDUFB9	POMGNT1	POMT1	WNK1	TUBB6	NR1H4	GLUD2	TWNK	VARS1	MICOS13	NUP214	SNORD118	MORC2	SLC52A2	DCTN1	GRM1	DPAGT1	MAPKBP1	CSF1R	ISCA1	TBK1	ACTN4	DNM2	KCTD7	KCND3	ATL1	MAG	LMNA	HSPD1	CRYAB	MFSD8	DNAJB6	NUP93	ZFYVE26	NDUFA12	AFG3L2	PANK2	FBXO7	BRAT1	PRKRA	SMN2	APOE	POLG	NR4A2	CFHR5	TFAM	GFPT1	RETREG1	RRM2B	FN1	RNASEH1	DGKE	ATAD1	ELP1	TEAD1	PRX	MPZ	UCHL1	SOX18	NUP160	NEFL	SPG11	EPM2A	SCARB2	SIGMAR1	NUP107	FZD6	CFL2	GPT2	CLPB	EXOSC9	PNPLA2	DYSF	FKTN	SURF1	DNA2	SETX	RNASET2	MME	EMC1	AIMP1	ERLIN1	GNAS	NKX6-2	DIABLO	HPDL	CACNA1A	FTL	GDAP1	AKT1	XRCC1	RFC1	SGCA	REEP2	FZD4	SPAST	MYH7	CAD	SMAD9	EEF2	PARK7	ATP1A1	VPS13A	PIEZO2	VLDLR	FRG1	TIA1	MGME1	MYH14	FARS2	COCH	TRIM32	ATG5	ORAI1	TRAK1	RARS2	TFG	GDAP2	LIMS2	TYMP	SYNJ1	CHRNE	LRP12	MECR	KIF1C	PLCE1	PDE8B	CPT1C	ILDR1	AP4B1	DMXL2	ANO5	SLC20A2	KIF5A	SNCAIP	ELP2	AR	SLC12A6	PEX2	DARS2	GBA2	ALG14	MRPS2	AP5Z1	CHRND	HLA-DQB1	MTPAP	INPP5K	NOL3	TJP2	VMA21	IREB2	PMPCA	TRPC3	GEMIN5	MFN2	C9orf72	PLEKHG5	POLR3B	CTC1	PRDM8	MYMK	SPG21	NPHS2	PRNP	TOR1AIP1	GAN	SELENON	CACNA1G	UBQLN2	TK2	FAN1	NAGLU	DPM1	KCNC1	DDHD2	PMPCB	FLNC	TNFRSF11B	OPA1	NDUFS1	TMEM240	BSCL2	DCDC2	COQ2	ELOVL5	NEFH	ACER3	SMN1	ASNS	CCNO	QARS1	ATXN8OS	SCN9A	GNS	ARHGDIA	KBTBD13	MT-TT	PKD2	MED17	CRPPA	PABPN1	TGM6	ATP6AP2	ACTA1	DZIP1L	CERS1	KCNT1	PUM1	TREX1	DNAJB2	KLC2	FAT2	RBCK1	CTSF	VRK1	UBA5	XPR1	GRN	KCNQ4	KMT2B	COASY	MYORG	MYPN	HEPACAM	WDR45B	PSEN1	WASHC5	EPRS1	CLCN5	AARS2	LMNB1	TXN2	POGLUT1	TRPV4	NOP56	SEC61A1	PDE10A	DARS1	SYNE1	ATXN2	FLVCR1	PNPLA8	ADH1C	MFSD2A	PMP2	TRAPPC12	PRUNE1	SPRY2	GBA	SLC5A7	GBE1	SYT14	COQ8B	SAMD12	KIF1B	MCM2	ATN1	B4GALNT1	PINK1	MOCS2	POLG2	NUP85	RTN2	ABHD12	PEX16	AGTPBP1	COL4A5	HSPB3	KRT12	COX6A1	KCNK3	TTR	MARCHF6	TBCE	PDYN	AAAS	ALG2	JAG2	DNAJC5	GRHL2	PDGFRB	COQ6	MCM3AP	FGF14	VAC14	GJB1	SOST	SLC34A2	MOCS1	PRKCG	KCNC3	CLN8	LRRK2	SLC52A3	MTAP	TRAPPC6B	HNRNPDL	VPS13C	CCDC88C	STARD7	DDHD1	CYP7B1	PNKP	SLC39A14
HP_NONPROGRESSIVE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NONPROGRESSIVE	KRT12	TUBB6	SELENON	MRPS2	HOXB1	CLDN14	COL4A4	ATG5	MARCHF6	PDE10A	SAMD12	GFPT1	SCN8A	ATN1	YEATS2	CWF19L1	COL4A3	CHRNE	ILDR1	VLDLR	STARD7	ATP2B3	PMPCA	TRPV4
HP_LARGE_BEAKED_NOSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_BEAKED_NOSE	ERCC2	ASPH	RNASEH2B	RNASEH2A	LIG4	TREX1	RNASEH2C	CENPT	XRCC4	ADAR	CEP152	IFIH1	SAMHD1	POLR3A
HP_CENTRALLY_NUCLEATED_SKELETAL_MUSCLE_FIBERS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRALLY_NUCLEATED_SKELETAL_MUSCLE_FIBERS	MTM1	SIL1	TPM2	BIN1	DNM2	PYROXD1	RYR1	SYNE1	DPM3	TTN	SPEG	MYH7	ACTA1	ORAI1	TRIM32	CCDC78	MTMR14	FXR1	JAG1	TPM3	TRIP4	GGPS1	SELENON	MYF6	BVES	CASQ1	MICU1	HNRNPA2B1	UNC45B	POMT1	STIM1	TNPO3
HP_CYTOCHROME_C_OXIDASE_NEGATIVE_MUSCLE_FIBERS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CYTOCHROME_C_OXIDASE_NEGATIVE_MUSCLE_FIBERS	POLG	SLC25A4	TACO1	NDUFA4	ETHE1	TWNK	POLG2	COX6A2	COA3	RRM2B	COX6B1	COX10	COA8	MT-TE	SURF1	TK2	TYMP	LRPPRC	MIEF2	MT-TN	PUS1	TRMU
HP_MULTIPLE_MITOCHONDRIAL_DNA_DELETIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_MITOCHONDRIAL_DNA_DELETIONS	TWNK	TYMP	POLG	SLC25A4	POLG2	RRM2B
HP_LIMB_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_MUSCLE_WEAKNESS	SACS	COA7	MYO9A	AGRN	BIN1	PYROXD1	GIPC1	ABCD1	GARS1	FBXO38	INF2	SDHA	PMP22	LMNA	DYSF	KLHL41	CHRNE	HINT1	NF1	JAG1	CCNF	IGHMBP2	BAP1	MTHFR	SBF1	SLC25A1	RNASEH1	MYH7	TWNK	SMARCE1	MYF6	MT-ATP6	REEP1	LAMA2	NEFL	SPG7	TRAF7	SYNE2	LRSAM1	RASA1	COL6A2	NIPA1	POLG	KY	MYH14	AP5Z1	SMN1	SBF2	MFN2	SPTLC2	TPM3	ITGA7	TIA1	SH3TC2	CAV1	TTN	PHYH	FLNC	PLEC	LMOD3	SGCG	RTN2	KCNJ18	AFG3L2	CRYAB	SYT2	LYST	NDRG1	SPG21	MTRFR	SLC25A4	CHRNB1	POLG2	DES	MAP3K20	FLI1	RAB7A	CHRNA1	PIGN	GNE	POU3F4	RAPSN	TERT	HSPB1	PDGFB	ACTA1	ZFYVE26	TRIP4	FGD4	HSPB8	PIK3CA	TPM2	DYNC1H1	ERGIC1	COL12A1	PLOD1	GBF1	ALDH18A1	DNM2	CADM3	ERLIN2	PRX	IBA57	YARS1	LBR	PNKP	MORC2	MYPN	SLC52A2	MARS1	DCTN1	DDHD1	PNPLA2	VCP	SLC5A7	CPT1C	CRPPA	HARS1	TCAP	HSPD1	RRM2B	DMXL2	COL13A1	PDK3	COL6A3	DSTYK	SPTLC1	GALC	CAPN1	LIPE	CFL2	VWA1	MPZ	SLC25A21	SPG11	HACD1	ANO5	SIGMAR1	FHL1	SPAST	SECISBP2	EGR2	BSCL2	GJB1	SYNE1	DGUOK	MTTP	TRPV4	COL6A1	ATL1	CHCHD10	SARDH	PPOX	DNMT3B	GABRA3	ACTN2	RAI1	ATP1A1	CAPN3	VPS13A	PIEZO2	FA2H	WASHC5	SQSTM1	DOK7	TRIM32	CYP7B1	ORAI1	MME	HADHA	CACNA1S	LRP12	KBTBD13	LIG3	NUP62	SCN4A	HADHB	LDB3	GYG1	NF2	AMPD3	POPDC3	GDAP1	KPNA3	KIF5A	SNAP25	SMO	MTMR14	GMPPB	TBCE	EMD	AR	MT-CO3	POMT1	SLC12A6	GBA2	AKT1	CHRND	SLC33A1	PRNP	HK1	VHL	SORD	VMA21	CHAT	ADSS1	ALAD	MUSK	COLQ	SMARCB1	NOTCH2NLC	MYOT	GAN	TK2	TDP1	KARS1	SUFU	DDHD2	MYL2	GNB2	BVES	MAPT	TYMP	NEB	NEFH	ASAH1	DYM	KIF1A	CPOX	AMPD1	TMEM43	PI4KA	HMBS	PLP1	PABPN1	ZFYVE27	VAMP1	ATL3	LRP4	DNAJB2	UBAP1	PNPLA6	SMCHD1	ADAR	L1CAM	SLC18A3	PEX7	CD59	FAM126A	ACOX1	POGLUT1	SELENON	TFG	BTD	ATP7B	SCYL1	DMD	SPART	AARS1	SCO2	LPIN1	KIF1B	COX20	KCNJ10	MT-CO1	HSPB3	COX6A1	FUZ	JAG2	MCM3AP	AK9	EXTL3	MPV17	MTAP	RYR1
HP_SCAPULAR_WINGING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCAPULAR_WINGING	COL12A1	TGFB3	GDF11	TPM2	POLG	NEB	OPA1	PYROXD1	TMEM43	CUL7	CAPN3	VCP	DNM1L	FRG1	SPEG	LMNA	FLNB	CRPPA	BRAF	RYR1	ACTA1	DYSF	ALG2	EYA1	PAX1	MYPN	TTN	PAX3	KBTBD13	BICD2	SGCA	PRR12	BIN1	PTPN11	MYH7	SMCHD1	GMPPB	CSGALNACT1	NEFL	C19orf12	OBSL1	COLQ	SYNE2	FLNA	COL6A2	EMD	TK2	COL6A3	DPAGT1	POGLUT1	TNPO3	SGCB	ATP6V0A2	LGI4	LRIF1	LAMB2	POMT2	KLHL41	MYH2	GFPT1	SGCG	VWA1	TRPS1	FHL1	CCDC8	SGCD	MYBPC1	SYNE1	TRPV4	ANO5	SQSTM1	RAF1	COL6A1	GNE	SEPTIN9	TPM3	KCNJ2	ALG14	FBN1
HP_DISTAL_AMYOTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_AMYOTROPHY	GDAP1	SACS	COA7	ACTN2	HARS1	MYO9A	ALS2	AGRN	LITAF	RAI1	MT-TE	GIPC1	STUB1	GARS1	KANSL1	VCP	TIA1	PMP22	INF2	LMNA	SQSTM1	DYSF	FXN	MYH14	MTMR2	ATXN3	ADSS1	KRT5	SDHA	YY1	PRPS1	ATXN1	TYMP	JAG1	MPZ	LRP12	NEFL	KIF1C	ATAD3A	TRPV4	CHCHD10	SLC25A1	KLHL9	LDB3	ATP7A	IGHMBP2	FBLN5	TPM3	CCT5	CYP27A1	SLC39A13	REEP1	C19orf12	CHP1	LRSAM1	SNAP25	ASAH1	TBCE	CUL4B	NEMF	PEX10	PTRH2	NDUFA9	RYR1	SBF2	EGR2	MFN2	SPTLC2	JPH1	ATXN2	SYT2	HK1	SH3TC2	FLNC	MME	CHAT	MED25	MAG	APTX	CAV3	AFG3L2	PLEKHG5	NOTCH2NLC	FUS	MSTO1	GAN	CPLANE1	MTRFR	TDP1	GJB1	MRE11	AGL	PNKP	DOK7	RAB7A	GBA2	BSCL2	ZFYVE26	SOX10	FGD4	NDRG1	POLG	GBF1	SPTLC1	NEB	SIGMAR1	CADM3	ABCA1	PRX	PNPLA6	IBA57	GNE	ANG	YARS1	ACTA1	MYOT	VAMP1	FLRT1	DNM2	CEP126	ZC4H2	SDHB	SPTBN4	ATL3	KLC2	SLC25A46	KIF5A	DCTN1	MORC2	KDM5C	ZBTB20	SLC5A7	CPT1C	ATL1	COASY	KIF1A	TCAP	SLC18A3	KRT14	COL13A1	PDK3	HSPB1	HINT1	BICD2	HSPB8	NGLY1	VPS13A	SPG11	VPS13D	PLOD3	DCAF8	MATR3	SPART	SLC25A21	ANO5	KIF1B	TFG	SPAST	B4GALNT1	TNR	ABHD12	FUZ	SETX	SDHAF1	SDHD	MPV17	COMP	SLC52A3	SVBP
HP_LATE_ONSET_PROXIMAL_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LATE_ONSET_PROXIMAL_MUSCLE_WEAKNESS	CACNA1S	CRYAB	DES	GABRA3	SCN4A	KCNJ18	KCNE3
HP_DIFFICULTY_STANDING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFICULTY_STANDING	DYSF	CYP2R1	ABCC8	TK2	CLN8	TFG	SLC34A3	TBCE	VDR	KY	SMS	GRM1	GRIN2A	MYOT	CYP27B1	DYM	WARS2	ATP2B3	GPAA1	FAR1
HP_GENERALIZED_AMYOTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_AMYOTROPHY	TBK1	COL12A1	LMNB2	TTN	TPM3	SELENON	ACADSB	SQSTM1	POLG	NEB	PYROXD1	YARS2	BAG3	KLHL41	SLC16A2	SCYL1	COL6A1	WARS2	SPEG	GPR35	TARDBP	MGME1	LAMP2	LMNA	DARS2	RYR1	MYH7	COL6A3	SCO2	NUP88	CHCHD10	MST1	COL6A2	C9orf72	SPG11	SEMA4D	PUS1	SPTBN4	SGCD	MYPN	NOTCH2NLC	TCF4	POLR3A	SLC52A2	ALDH18A1	KBTBD13	PNPLA2	TK2	NAGA	ACTA1	PGAP1	BIN1	DOK7	HNRNPA2B1	RAPSN	MUSK	DNA2	LEMD3	CARS1	TRIP4	FUS	DALRD3	GMPPB	RBM28	VCP	VAMP1	PNPLA6	UNC45B	SLC18A3	POMT1	DNAJC19	MYOD1	TPM2	C2orf69	HNRNPA1
HP_PROXIMAL_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_MUSCLE_WEAKNESS	GDAP1	GABRA3	ACTN2	TRAPPC11	TPM2	POLG	MYO9A	ALS2	AGRN	BIN1	PYROXD1	MT-TE	DAG1	GIPC1	CAPN3	VCP	FBXO38	COL6A1	PLEC	LMNA	RRM2B	LAMP2	RYR1	DYSF	SGCB	DOK7	DES	TRIM32	CHRNE	ORAI1	CHCHD10	COL6A2	ALG2	MTMR2	PDE8B	TFG	BTNL2	LARGE1	MT-ATP6	ACTA1	SDHA	ATXN1	JAG1	SELENON	CACNA1S	LRP12	IGHMBP2	COL12A1	MYPN	MORC2	BICD2	TOP3A	SLC25A1	SCN4A	MSTO1	MT-TL2	MT-TN	LDB3	MYH7	HNRNPA2B1	MAP3K20	TWNK	TPM3	MYF6	CPT1C	SLC5A7	POPDC3	GMPPB	ANO5	REEP1	LAMA2	NEFL	COLQ	SYNE2	SNAP25	MTMR14	TNXB	ASAH1	EMD	KY	MYH14	MT-CO3	TK2	SMN1	POMT1	COL13A1	COL6A3	CHRND	MFN2	COL9A3	JPH1	LRIF1	GAA	SYT2	HK1	SQSTM1	LAMB2	INPP5K	TTN	DYNC1H1	FLNC	SORD	SBF2	VMA21	POMT2	CHAT	GFPT1	SGCG	ADSS1	POMK	MUSK	STIM1	FHL1	KCNJ18	FKRP	CRYAB	HNRNPA1	PLEKHG5	ACBD5	CHRNA1	NOTCH2NLC	MYOT	GAN	MYBPC1	FUS	NDRG1	COQ8A	PRKACA	SLC25A4	CHRNB1	ARMC5	POLG2	POMGNT2	BVES	PIGN	TMEM43	GNAS	SYNE1	RAPSN	OAT	NEFH	MT-TL1	TRDN	ALG14	CHKB	CPOX	ACADM	LIPE	GATM	SPTLC1	NEB	DNM2	SIGMAR1	POMGNT1	HMBS	SPEG	TARDBP	PABPN1	CAVIN1	VAMP1	SDHB	LRP4	RBCK1	PNPLA2	SGCA	DMD	DPAGT1	VAPB	FKTN	DGUOK	CRPPA	TCAP	SLC18A3	MICU1	ABHD5	DNAJB6	DMXL2	PYGM	POGLUT1	SMN2	DPM3	TBK1	PRKAR1A	LTBP4	CNBP	PDE11A	SPG11	CASQ1	MYH2	PNPLA8	ATP7B	OPA1	FLAD1	DNA2	VWA1	SLC25A21	NUTM2B-AS1	LPIN1	C9orf72	CFL2	FXR1	MT-CO1	SECISBP2	SGCD	TRPV4	JAG2	SDHAF1	UBA1	KCNE3	AK9	SDHD	HLA-DRB1	SLC52A3	MTAP	UNC45B	NARS2	POLR3GL	PPOX
HP_CALF_MUSCLE_PSEUDOHYPERTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALF_MUSCLE_PSEUDOHYPERTROPHY	SGCA	MYH7	POMK	TRIM32	CAV3	FKRP	PPARG	NEB	ANO5	DMD	POMT2	DAG1	POMGNT1	GMPPB	SGCG	SGCB	CRPPA	POMT1
HP_EXERCISE_INDUCED_MUSCLE_CRAMPS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXERCISE_INDUCED_MUSCLE_CRAMPS	PYGM	CHCHD10	SLC16A1	CPT2	PGK1	CAV3	RYR1	HINT1	PYGL	PFKM	DMD	PGAM2	LAMA2	LAMP2
HP_SKELETAL_MUSCLE_HYPERTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKELETAL_MUSCLE_HYPERTROPHY	SMAD4	FKRP	MLXIPL	SRY	BIN1	ZEB2	ATP6V1B2	DAG1	TBCK	ROR2	CHCHD10	CAPN3	ALG8	CDKN1C	GPC3	INPP5E	FRG1	AGA	AIP	TSHB	IL6ST	GTF2I	SGCB	ZBTB24	NCF1	SLC5A5	HSPG2	DYSF	KCNQ1OT1	IGF2	LARGE1	LIMS2	LIMK1	TSHR	SCN4A	GLB1	EIF4H	VPS33A	GNPTAB	PSMB8	MPZ	GPC4	PROP1	PIGW	INSR	POP1	TTN	MAP3K20	FIBP	ACTB	NKX2-5	MYF6	IDUA	POPDC3	ANO5	LAMA2	SHOX	PPARG	RASA1	MTMR14	MSTN	CUL4B	KCNJ11	PMP22	AR	FOXE1	RNF125	POMT1	TG	CAV3	FOXG1	PLAGL1	FDX2	ERLIN2	CAVIN1	EHMT1	GAA	SDHD	HYMAI	ABCC8	PAX8	SNX14	LHX4	LHX3	PLEC	POMT2	FHL1	SDHC	SGCG	AGPAT2	MED13L	CLCN1	ALG3	BCL7B	POU1F1	ARID1A	SMARCA4	PIGS	HRAS	GMPPB	IYD	KCNN3	GUSB	FUCA1	SETBP1	IFT140	ATRX	POMGNT2	DUOXA2	NKX2-1	LMNA	GATA1	METTL27	TBL2	AKT1	CDCA7	MT-TE	ZFP57	MAN2B1	AMPD2	PQBP1	CIZ1	FTO	USF3	RTL1	SEC23B	IDS	HEXB	SMARCB1	DNM2	POMGNT1	ELN	CRPPA	CCDC47	TRAF3IP2	TMEM270	RFC2	UBE3A	DNMT3B	KCNA1	PRPS1	FKTN	CAV1	PIK3C2A	PLIN1	FKBP6	DMD	STX1A	PRKAG2	HELLS	BAZ1B	DUOX2	SNIP1	MEG3	TCAP	HNRNPK	POMK	MICU1	HS2ST1	KLLN	BUD23	ALG6	DNAJC30	SLC25A1	ABCC9	GPR101	LTBP4	GTF2IRD2	KCNH1	FOS	LIPE	VPS37D	THRA	HESX1	DVL1	PTEN	DLK1	SLC26A4	TPO	PEX1	KCNQ1	SGCD	IPO8	POLR3A	ARSB	PIK3CA	BSCL2	JAG2	SDHB	CLIP2	WNT5A	AFF4	GTF2IRD1	UNC45B	KCNMA1	SNRPN	RYR1	SGCA	DPM3	CIDEC	DHX16	TRMU
HP_MUSCLE_FIBER_NECROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_FIBER_NECROSIS	TWNK	SGCG	COL6A3	POLG	POPDC3	COL6A2	COL6A1	DHX16	ACTA1
HP_MYOFIBRILLAR_MYOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOFIBRILLAR_MYOPATHY	CFL2	LDB3	FHL1	MYOT	PTEN	AKT1	TTN	FLNC	BAG3	DNAJB6	ACTA1	KLHL40
HP_NECK_FLEXOR_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NECK_FLEXOR_WEAKNESS	CNBP	CHRND	CHCHD10	CHRNB1	SCN4A	SPG11	RNASEH1	ALS2	SPTLC1	NEB	SIGMAR1	TPM2	GYG1	TTN	MYOT	LMOD3	DES	KBTBD13	CFL2	CHRNA1	SGCG	AK9	LAMA2	ACTA1	KLHL41	DOK7	RAPSN	TRIM32	MUSK	CHRNE	DYSF	AGRN	RRM2B	LRP4	COL13A1	FUS
HP_SHOULDER_GIRDLE_MUSCLE_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHOULDER_GIRDLE_MUSCLE_ATROPHY	GNE	TRPV4	TRIM32	ACTB	LMNA	FKRP	MYH7	UNC45B	TPM3	VCP	DES	SGCB	FRG1
HP_QUADRICEPS_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_QUADRICEPS_MUSCLE_WEAKNESS	GDAP1	SLC25A4	DYSF	COL12A1	TRIM32	TTN	TWNK	COL6A2	POLG2	POLG	COL6A3	VCP	COL6A1	MFN2	ADSS1	RRM2B	DMD
HP_AUTOPHAGIC_VACUOLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AUTOPHAGIC_VACUOLES	LDB3	CRYAB	ACTN2	MYOT	LRP12	TNPO3	ACTA1
HP_MITOCHONDRIAL_MYOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MITOCHONDRIAL_MYOPATHY	MT-TL1	POLG	MT-TW	MT-TF	NDUFB3	NDUFA1	YARS2	NDUFB9	MT-CO2	NDUFAF5	PNPLA8	NDUFS8	MT-ND2	NDUFS3	NDUFAF4	DNA2	RRM2B	MT-ND3	NDUFB11	NDUFV1	MT-ND5	MT-TV	MT-TC	MT-ND4	FOXRED1	NDUFA11	PUS1	NDUFS2	MT-ND6	TYMP	NDUFS4	NDUFB10	MT-CO3	MT-TT	OPA1	MT-TS2	SLC25A4	NDUFS7	NDUFV2	MSTO1	NDUFA6	TWNK	POLG2	TMEM126B	CAV3	MT-CO1	DGUOK	NDUFS6	MT-TK	MT-ND1	MT-TQ	NDUFAF1	TIMMDC1	ISCU	MT-ATP6	NDUFAF2	NDUFAF8	TK2	NDUFAF3	NDUFS1	MT-CYB	NUBPL	AGK	FDX2
HP_EXERCISE_INDUCED_MYALGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXERCISE_INDUCED_MYALGIA	PYGM	DYSF	AMPD1	ANO5	RNASEH1	ACADM	BIN1	DNM2	FLNC	PGK1	MYF6	AMPD3	CAV3	MATR3	RYR1	ACADVL	TRIM32	MTMR14	STIM1	LPIN1	LMNA	CPT2	LDHA	MT-CO3	RRM2B	MT-CO1	PHKA1	PGAM2
HP_MYOCLONIC_SPASMS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOCLONIC_SPASMS	TRAF7	TERT	SUFU	STX16	PDGFB	SMO	MOCS1	SMARCE1	MT-ATP6	TXN2	SMARCB1	GNAS	NF2	SLC1A4	MOCS2	AKT1	BAP1	INPP5E	BRAT1	PIK3CA
HP_CONGENITAL_MUSCULAR_DYSTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_MUSCULAR_DYSTROPHY	TTN	FKTN	SELENON	CHKB	FKRP	CRPPA	LAMA2	POMT2	COL12A1	ITGA7	POMT1	POMGNT1	COL6A1	MYH7	LMNA	GMPPB	POMK	COL6A2	LARGE1	COL6A3
HP_GENETIC_ANTICIPATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENETIC_ANTICIPATION	ATXN3	ATXN1	ATXN2	TERT	CACNA1A	SPAST	ATXN10	ALDH18A1	ATXN7	ATN1
HP_SPORADIC	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPORADIC	ATXN8OS	TSC1	CACNA1S	RB1	CPLX1	FGFRL1	FLCN	KIT	NDN	TSC2	MT-TT	NFIX	HRAS	SNRPN	NLGN4X	GLUD2	CTBP1	UBE3A	RNF139	SIX3	SPECC1L	TBP	ALDH18A1	CDON	PBRM1	JAK2	ZBTB20	KRAS	NSD1	NRAS	TOE1	KCNJ18	IGF2	TINF2	HNF1B	GLI2	CHD7	TSHR	MAGEL2	SNCAIP	ALX3	SDHC	SIN3A	SEMA3E	FLNB	GNAQ	EHMT1	NR4A2	KIF1B	ATXN2	ADH1C	MTOR	FGFR1	HERC2	BCL10	SHANK3	LETM1	GBA	SKI	ACAT2	PWRN1	RPS14	MAPT	PCSK1	SUMO1	LMNB2	RAI1	MKRN3	SNORD115-1	PAFAH1B1	PIK3CA	TUBB4A	NIPBL	NFIA	ADA2	GJA5	EP300	OGG1	FOXG1	NLGN3	PSEN1	DRD5	VHL	GNAS	MAP2K1	FGFR3	PDGFRA	MEF2C	GNAS-AS1	GATA1	SDHB	PTDSS1	HNF1A	NPAP1	COQ2	NSD2	CREBBP	MYC	SNORD116-1	AKT1	IRF6	RPS6KA3	STK11	PWAR1	HLA-DRB1	STX16	GJA8
HP_PELVIC_GIRDLE_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PELVIC_GIRDLE_MUSCLE_WEAKNESS	SELENON	TPM2	DYSF	ITGA7	CHRND	CHRNB1	SCN4A	RYR1	MT-TE	FLNC	MYL2	SMCHD1	PLEC	VCP	MAP3K20	CHRNA1	ANO5	AK9	PHKB	GNE	SGCB	DOK7	RAPSN	TPM3	TRIM32	MUSK	DNAJB6	CHRNE	FKRP	HACD1	ACTA1	AGRN	HNRNPDL	LRP4	DPM3	COL13A1	MYOT	TNPO3	TTN	DGUOK	PNPLA2
HP_INCREASED_MUSCLE_FATIGUABILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_MUSCLE_FATIGUABILITY	GABRA3	TRAPPC11	AMPD1	STIM1	KCNJ18	DMGDH	SLC16A1	SERPINA6	RRM2B	CAV3	CACNA1S	PGK1	DBH	SCN4A	AMPD3	KCNE3
HP_EPISODIC_FLACCID_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISODIC_FLACCID_WEAKNESS	KCNJ5	GABRA3	KCNJ18	SCN4A	CACNA1S	KCNJ2	KCNE3
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	MYL2	ACTA1	MTM1	SELENON	TPM2	MYH7	RYR1	TPM3
HP_SKELETAL_MYOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKELETAL_MYOPATHY	SDHA	COMP	SDHD	SDHAF1	HADHB	ALDOA	TAFAZZIN	SDHB	MT-TE	HADHA	PNPLA2
HP_REDUCED_SUBCUTANEOUS_ADIPOSE_TISSUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_SUBCUTANEOUS_ADIPOSE_TISSUE	SLC25A24	KCNK9	INSR	TGFB3	SLC2A2	NAA10	FH	TOP3A	CAV1	GNB2	ERCC8	BSCL2	LMNA	LEMD2	AGPAT2	PPARG	ERCC6	ATP6V1E1	SKI	SOX18	IGF1R	RBM28	PLIN1	TGFB1	PTF1A	POLR3A	ZMPSTE24	FBN1
HP_CALCINOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALCINOSIS	LMNA	GALNT3	RECQL4	GNAS	LBR	ZMPSTE24	ANAPC1	AGXT	GEMIN4	CASR	SAMD9
HP_UTERUS_DIDELPHYS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UTERUS_DIDELPHYS	DYNC2H1	INTU	HOXA13	GATA3	DYNC2I2	AXIN1	IFT80	WDR35	PPP1R12A	DYNC2I1
HP_BRUXISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRUXISM	SHROOM4	AFF3	CDKL5	VPS13A	FOXG1	MECP2	SHANK3	ANK3	PGAP3	GNB2	HTT	NTNG2	ZEB2	HNRNPK	CERT1	NEXMIF	ATG7	DHX30	SPTBN1	GABBR2	PDE2A	KIF15
HP_NEVUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEVUS	MLXIPL	TGFB3	PIK3CA	TYR	EED	FGFR1	TYRP1	ROR2	BRAF	RRAS	KANSL1	CDKN1C	KRAS	RBM8A	CDC42	HRAS	CDK4	RIT1	GTF2I	NCF1	RAF1	KCNQ1OT1	ERF	IGF2	LIMK1	TSC2	EIF4H	GNAQ	PRKAR1A	PUF60	MC1R	BAP1	TSC1	NRAS	LZTR1	STK11	PTEN	EDEM3	NEK9	SDHD	MED25	PTCH1	XPA	FZD2	DIS3L2	PUS3	FKBP10	CYP1B1	CHRNA7	MRAS	SDHC	BCL7B	TP63	HPS1	MYH3	SPTBN1	CYP26C1	FGFR2	SOS1	LEMD3	FGFR3	TASP1	SLC45A2	COL7A1	PTCH2	HDAC8	PLP1	IFNG	NXN	SOS2	ERCC4	TERF2IP	METTL27	TBL2	ACD	AKT1	SUZ12	MPL	TRIM37	DVL1	XPC	ARL6IP6	USF3	FBN1	PDE4D	SMC3	RASA2	SEC23B	LTBP2	ASXL1	ELN	DDB2	H1-4	TNFRSF11B	TMEM270	BLOC1S5	RFC2	CDKN2B	FKBP6	CDH3	SPRED2	POT1	SLC25A24	STX1A	PTPN11	DVL3	ERCC5	TEK	ASXL2	OCA2	BAZ1B	COL3A1	KRT14	RRAS2	KLLN	RBM28	BUD23	CDK10	MSL3	DNAJC30	GTF2IRD2	PCGF2	SUFU	VPS37D	WNT5A	TNFRSF11A	ERCC3	MGMT	THPO	KCNQ1	CHRNG	CDKN2A	MITF	MYOC	H19	SDHB	ERCC2	CLIP2	CBL	GTF2IRD1	TERT
HP_PSORIASIFORM_DERMATITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSORIASIFORM_DERMATITIS	IGKC	HLA-DRB1	GJB2	HLA-B	TTC7A	FLI1	MSMO1	IL2RA	NFKB2	ADAM17	GATA3	EGFR	DSG1	PIK3CD	IGHG2	CARD14	CACNA1G	KNSTRN	AP1S3	LIG4	IRF2BP2	GJB6	HLA-C	IL36RN	CTLA4	FOXP3	HLA-DQB1	SLC29A3	TP63
HP_PERIODIC_PARALYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIODIC_PARALYSIS	KCNJ5	CACNA1S	GABRA3	SLC4A1	CDH23	KCNJ18	SCN4A	ABCB6	KCNJ2	FAH	KCNE3	CA2
HP_PULP_CALCIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULP_CALCIFICATION	GALNT3	COL5A2	COL1A1	FGF3	FAM20A	DSPP	COL5A1
HP_STAGE_5_CHRONIC_KIDNEY_DISEASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STAGE_5_CHRONIC_KIDNEY_DISEASE	NPHS1	GAPVD1	GANAB	YRDC	TMEM67	TBC1D8B	BNC2	LZTFL1	CD2AP	NPHP4	MEFV	SLC41A1	PKD2	INF2	SLC34A1	NUP133	CTNS	DZIP1L	COL4A6	CEP164	SMARCAL1	TRPC6	EMP2	DSTYK	WT1	CEP83	INVS	MAGI2	GSN	LMX1B	CC2D2A	CEP290	NUP93	TMEM231	NUP85	TTC26	MAPKBP1	PLCE1	NDUFAF6	NOS1AP	NPHP1	ACTN4	PAX2	WDR19	COL4A3	SRCAP	ALG9	RAD51C	NUP107	CLCNKB	TSC2	AGXT	COL4A5	MYO1E	CLCN5	TMEM126B	TRAF3IP1	NPHP3	MYOCD	RNU7-1	IQCB1	NPHS2	CD81	BICC1	COQ8B	TSC1	SLC37A4	CFHR5	TPRKB	LAGE3	DNAJB11	SGPL1	NOD2	ANLN	FN1	PRKCD	DGKE	NEK8	EHHADH	SPRY2	XPNPEP3	RPGRIP1L	APOL1	SDCCAG8	OSGEP	AVIL	ALMS1	PTPRO	NUP37	BSND	GON7	NUP205	MMUT	SLC7A7	CD151	FAN1	TTC21B	IFT140	TP53RK	LAMB2	IFT43	ARHGAP24	JAG1	CRB2	AHI1	ARHGDIA	HNF1B	COL4A4	ANKFY1	DCDC2	CPT2	MUC1	APRT	GLIS2	PKD1	CLCNKA	GATM	NUP160	PKHD1
HP_PILI_TORTI	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PILI_TORTI	PEX6	WRN	HEPHL1	NECTIN1	CDH3	NECTIN4	LMNA	ST14	BCS1L	HRURF	KRT85	PEX1	DSG4
HP_EXCESSIVE_SALIVATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXCESSIVE_SALIVATION	RTL1	SLC12A5	SPEN	GABRG2	MECP2	IL1RAPL1	ZEB2	GNS	GFM2	CLCN4	MRE11	SRPX2	VPS13A	ATP6AP2	AP4B1	IKZF1	QDPR	GPT2	ZNF41	ATP1A3	UBE3A	PCDH19	GDI1	GABRA1	FTSJ1	DLAT	PTS	PMP22	DLG3	SATB2	OCA2	GRIK2	MID2	SCN9A	CLDN11	POLR3A	PDE10A	MEG3	NTNG2	SNRPN	ALS2	CERT1	NEXMIF	SLC9A7	FRMPD4	ARX	EIF2S3	BCORL1	HPDL	ALG13	STRADA	ZBTB11	RAB39B	NONO	PI4KA	GCH1	FOXP2	CNKSR2	FOXP1	STEEP1	FOXG1	SLC9A6	PLA2G6	DEAF1	PCGF2	HNRNPH2	GRIN2A	AGTR2	SLC16A2	POU3F3	TUBB2B	DMD	ARHGEF6	SCN1A	SCN1B	AP4S1	SCN2A	IQSEC2	SPTBN1	AP4E1	SMARCA2	ACSL4	MED27	POLR3B	UPF3B	AP4M1	SH3TC2	RPS6KA3	TANGO2	PRPS1	HLA-B	SYP	KIF15	ZC4H2	TASP1	ATP10A	SETD5	HERC1	TH	ADGRG1	SHMT2	ZNF711	SATB1	ATRX	MED12	PTCHD1	DLK1	TSPOAP1	TSPAN7	USP27X	PAK3	ATP7B	FBLN1	NRXN1	VAC14	LMNB2	ZNF81	EXTL3	USP9X	HCFC1	SPART	GABBR2
HP_EUNUCHOID_HABITUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EUNUCHOID_HABITUS	GNRHR	KISS1	PROK2	TAC3	WDR11	NSMF	ESR2	TACR3	HS6ST1	FGFR1	KISS1R	GNRH1	SPRY4	FGF17	ANOS1	TUBB4A	DUSP6	CYP19A1	PROKR2	CHD7	FGF8
HP_DECREASED_CSF_HOMOVANILLIC_ACID	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CSF_HOMOVANILLIC_ACID	PNPO	TSPOAP1	DDC	TH	GCH1	NGLY1
HP_MINICORE_MYOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MINICORE_MYOPATHY	CFL2	TRIP4	RYR1	SELENON	FXR1	MYH7
HP_DEPOSITS_IMMUNOREACTIVE_TO_BETA_AMYLOID_PROTEIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEPOSITS_IMMUNOREACTIVE_TO_BETA_AMYLOID_PROTEIN	TREM2	DYSF	APP	PSEN2	TOMM40	PSEN1	ABCA7	GNE	SORL1
HP_SHORT_MIDDLE_PHALANX_OF_TOE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_MIDDLE_PHALANX_OF_TOE	TRPV4	HOXD13	FGFR1	FGFR2	FGFR3
HP_IRREGULAR_ILIAC_CREST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRREGULAR_ILIAC_CREST	COL2A1	IDH1	LMX1B	GPX4	DYM	PAM16
HP_LIMB_GIRDLE_MUSCLE_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_GIRDLE_MUSCLE_ATROPHY	DPM3	MORC2	TRPV4	ACTB	TRAPPC11	CRPPA	ANO5	TMEM43	LMNA	POMT2	DAG1	MYH7	POMT1	CAPN3	TPM3	VCP	DES	FRG1	GNE	TRIM32	FKRP	SYNE2	FHL1	FKTN	EMD	HNRNPA1	ACTA1	HNRNPDL	UNC45B	SGCA	SGCB	SYNE1	DGUOK
HP_NEMALINE_BODIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEMALINE_BODIES	TNNT1	NEB	LMOD3	ACTA1	KLHL40	TPM2	RYR1	TPM3	PYROXD1	KLHL41	MYPN	KBTBD13	NEFL	CFL2	KY	NDUFB3	MYO18B
HP_MUSCLE_ABNORMALITY_RELATED_TO_MITOCHONDRIAL_DYSFUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_ABNORMALITY_RELATED_TO_MITOCHONDRIAL_DYSFUNCTION	MT-TL1	POLG	MT-TW	MT-TF	NDUFB3	NDUFA1	TACO1	SLC25A4	ETHE1	NDUFB9	MT-CO2	NDUFAF5	NDUFS3	COA3	NDUFAF4	RRM2B	MT-ND3	COX6B1	NDUFB11	NDUFV1	TWNK	MT-ND5	MT-TV	MT-TC	FOXRED1	TYMP	NDUFS4	OPA1	NDUFS7	MSTO1	NDUFA4	MT-TL2	MT-TN	SUCLG1	SLC25A10	CAV3	MT-CO1	DGUOK	NDUFS6	MT-TK	NDUFAF1	MT-ATP6	NDUFAF2	NDUFAF8	TK2	LRPPRC	NDUFAF3	NDUFS1	MT-CYB	PUS1	AGK	MT-ND2	FDX2	YARS2	PNPLA8	COX6A2	NDUFS8	DNA2	MT-ND4	NDUFA11	SURF1	NDUFS2	MT-ND6	POLG2	NDUFB10	MT-CO3	MT-TT	MT-TS2	FARS2	NDUFV2	NDUFA6	TMEM126B	MT-ND1	MT-TQ	PNPT1	COX10	TIMMDC1	ISCU	COA8	MT-TE	NUBPL	MIEF2	TRMU
HP_RIMMED_VACUOLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIMMED_VACUOLES	DPM3	COL12A1	ACTN2	SIL1	TIA1	NEB	TMEM43	TTN	PABPN1	VCP	LMNA	GNE	MATR3	DNAJB6	GIPC1	SQSTM1	FHL1	ADSS1	HNRNPA1	ACTA1	NOTCH2NLC	LRP12	SYNE1	PNPLA2	CHCHD10	HNRNPA2B1	MAP3K20	GGPS1	COL6A1	TCAP	SYNE2	COL6A2	EMD	NEFH	HNRNPDL	COL6A3	TNPO3	MYH7
HP_NEONATAL_DEATH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_DEATH	FLNB	TTC26	SLC25A24	INTU	MBTPS2	PIP5K1C	DSP	GAD1	SFTPB	CTSD	SUCLG1	GLE1	GATC	LMOD1	GLI3	ETFDH	NDUFB10	HSPG2	GLUL	SDHD	ETFB	NEB	PKHD1	GBA	ETFA	FGFR3	FOXF1	NDUFB11	ATP1A2	LBR	PET100	CEP55	FAM20C	ABCA3	WT1	QRSL1	ATAD3A
HP_PHENOTYPIC_VARIABILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHENOTYPIC_VARIABILITY	HARS1	SHH	TBCK	CACNA1A	EXOSC3	RTEL1	NLRP3	FBXO38	COL6A1	MET	PARN	MT-ND1	MNX1	MT-ND5	COL6A2	MAPK8IP3	FBXO11	PTCHD1	PRPS1	TUBB2A	GABRB2	ANTXR2	MPZ	DCHS1	TTN	PAX3	LZTR1	NEFL	BRCA2	GATA1	POT1	GTPBP2	SCN1A	GABRG2	PTPRO	FOXE3	KRIT1	RANBP2	SLC5A7	GMPPB	BRPF1	DLD	MN1	LRSAM1	PROK2	EIF2S3	KRT14	NIPA1	TSEN15	PAX2	PTCH2	COL6A3	SERAC1	AGK	GLE1	SH3KBP1	KIF1B	TENM4	CAV1	C19orf12	RHOBTB2	TBC1D24	TH	GLI3	TUBG1	ERCC5	RAD51	SGPL1	EHHADH	PSAP	CA5A	IBA57	NF2	FKRP	MT-ND6	IKZF1	STAT2	FGFR1	NDUFAF1	KRT86	RNASEH2B	MYH7	TNFRSF11A	ATP1A2	TUBB4A	RMND1	FIG4	PMP22	MRE11	RELN	TBK1	JAG1	DEGS1	CPOX	GYG1	CYP2U1	GRIN2A	MT-CO3	CREBBP	TAF13	CSPP1	GRIN2B	STIM1	STX1B	HCN1	CLCN2	RPS29	SUFU	VAMP1	GLI2	TLR3	VCP	SAMHD1	MT-TF	PROC	HSD11B2	PDHX	DHFR	PRX	GATA5	KRT81	DNM1L	CLPX	POMT1	TUBB6	SAMD9L	MT-TC	STAT1	SCN4A	SNORD118	FGF23	CTLA4	SLC25A46	SLC52A2	PDGFB	KIF14	RORB	MAPKBP1	ACTN4	MT-CO1	SDHB	SELENON	MT-ATP6	LMNA	ROGDI	MTRFR	VWF	GRHPR	ANO3	ADD3	SCN2A	MITF	FH	GCH1	MT-CYB	PTEN	PRCC	VPS13D	F10	CFAP53	COL4A1	GFPT1	CFD	NDUFA1	NLRP12	KIF11	PTCH1	TOR1A	NUP107	FGF12	SLC3A1	CDH23	EYA1	PAFAH1B1	DZIP1	PNPLA2	GJA5	EP300	TRPV4	GANAB	VEGFC	FKTN	NAA10	SURF1	SETX	B2M	ERCC1	NDUFAF6	GNAS	UCHL1	ATL1	MT-TK	MATR3	KCNQ5	THAP1	IARS1	DDX41	KCNA1	FARS2	SGCA	SPAST	PRRT2	LRP5	EXOSC2	CRELD1	CANT1	CIT	SMAD9	MT-TW	TPM2	PROKR2	CLTC	ZBTB18	TRIT1	SLC5A2	GABRB3	MT-TL1	PFKM	QDPR	MT-TV	HAVCR2	PRPF31	SCN9A	ORAI1	RARS2	TERT	SIX3	MBTPS2	ATP6V1A	TM4SF20	MSH6	CHRNE	MECR	GFI1B	BICD2	FMR1	SLX4	SLC7A9	PIGN	KIF1A	CD3E	CHRNA7	ACTA1	ANO5	DEPDC5	LAMA1	FLCN	F2	PEX10	RBM12	DPAGT1	PEX2	DARS2	MPDZ	PURA	EGR2	GM2A	WDR26	ALAS2	NR5A1	MFN2	SLC25A26	BCS1L	BMPR2	DLST	VMA21	SPTAN1	ATXN10	TUBB2B	GP6	GJC2	NDUFS8	KRT83	GUCY1A1	TMEM126A	PRDM8	ELP1	SPG21	NPHS2	NUBPL	PITX2	PITX1	COQ8A	TK2	SLC2A1	MRPL44	SGCE	DPM1	SCN1B	HGSNAT	KIF5A	EPHB4	HDAC8	KLF13	REEP1	TNFRSF11B	GDF6	KLHL41	GREB1L	TMEM106B	FGFR2	NEFH	CTNNB1	CILK1	CHRNA1	SMARCE1	ZIC3	ANXA11	ERBB3	GRIA4	SPR	GJA8	MT-CO2	TERC	F7	PKD2	ELOVL4	WWOX	CD3G	DCC	SCNN1A	DZIP1L	ATP1A3	MEGF10	PUM1	DSTYK	GUCY2D	RBCK1	PPCS	CDON	CIC	KMT2B	DNAJC21	SLC12A5	PRPF8	STXBP1	TWIST1	SFXN4	MPC1	GJB6	EBP	FAM126A	DCX	BCORL1	INAVA	NPRL2	NRIP1	PLAA	TUBB3	MT-ND4L	POLG	PIGH	MYH2	SIX1	OPA1	CACNB4	CACNA1S	AARS1	CACNA2D2	ALX4	AGRN	POMT2	MCM2	CFC1	CHRNA4	POLG2	RARS1	MT-ND4	RYR1	TPM3	COL4A2	MT-TS2	KCNK3	CHRNA2	PIGA	SF3B4	IFIH1	DLX5	GRIN2D	NEUROD2	KCNMA1	MT-TQ	AFG3L2	DAG1	GJB1	DHDDS	PRKCG	SMARCB1	LRRK2	GTPBP3	HNRNPDL	METTL23	NPRL3	TICAM1	MRPS7	MT-ND2	WNT10B
HP_DEATH_IN_CHILDHOOD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEATH_IN_CHILDHOOD	TSFM	RINT1	HEXB	MRM2	KRT5	MRPL3	MADD	GAD1	TIMMDC1	MTX2	ABAT	TSEN54	TPP2	ATP7A	SNAP29	NFIX	RNASEH2A	OGDH	LAT	FCHO1	FKRP	RARS2	KARS1	ERCC6	PET100	SMARCD2	GNPTAB	SEC31A	CLCN3	SLC17A5	COX5A	ZNFX1	RNASEH2C	SUCLG1	SCYL2	PLCB3	PEX5	JPH2	UBR1	SLC25A22	ERCC2	NEB	ATP5MK	ATG7	ABCB11	VPS33A	RAB27A	HMGCL	PQBP1	WT1	FADD	C2orf69	ACTL6B	STT3B	TNFRSF11A
HP_STILLBIRTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STILLBIRTH	TRIP11	FLNB	PHGDH	SLC26A2	COL11A1	FLNA	POR	CENPF	GDF5	PTH1R	MUSK	HYLS1	CALCRL	LMNA	SLC35D1	RNU4ATAC	NEK8	ESCO2	ALPL	GBA	OSTM1	NSDHL	LBR	CEP55	ZMPSTE24	WT1	COL2A1	PITX1
HP_VARIABLE_EXPRESSIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VARIABLE_EXPRESSIVITY	CANT1	CIT	MT-TW	SUFU	TPM2	HARS1	SHH	CLTC	TBCK	ZBTB18	EXOSC3	TRIT1	SLC5A2	RTEL1	NLRP3	FBXO38	COL6A1	MT-TL1	PFKM	QDPR	MT-ND5	MT-TV	HAVCR2	SCN9A	ORAI1	COL6A2	RARS2	MAPK8IP3	SIX3	FBXO11	MBTPS2	PTCHD1	ATP6V1A	PRPS1	TUBB2A	GABRB2	ANTXR2	CHRNE	MPZ	MECR	PAX3	GFI1B	LZTR1	NEFL	BICD2	GATA1	SLX4	SLC7A9	GTPBP2	PIGN	SCN1A	KIF1A	PTPRO	CD3E	ACTA1	SLC5A7	GMPPB	ANO5	BRPF1	DLD	LAMA1	EIF2S3	F2	KRT14	NIPA1	PEX10	DPAGT1	TSEN15	PEX2	DARS2	PAX2	PARN	PTCH2	COL6A3	SERAC1	MPDZ	PURA	EGR2	GM2A	AGK	GLE1	WDR26	SH3KBP1	GRIN2B	TENM4	ALAS2	MFN2	SLC25A26	CAV1	BCS1L	C19orf12	RHOBTB2	TBC1D24	TH	GLI3	TUBG1	ERCC5	SGPL1	SPTAN1	EHHADH	TUBB2B	GP6	NDUFS8	PSAP	KRT83	CA5A	IBA57	NF2	GUCY1A1	FKRP	MT-ND6	TMEM126A	EYA1	PRDM8	STAT2	SPG21	NDUFAF1	KRT86	NPHS2	RNASEH2B	MYH7	TNFRSF11A	NUBPL	PITX2	MT-CO3	COQ8A	TUBB4A	RMND1	FIG4	TK2	PMP22	SLC2A1	MRE11	MRPL44	DPM1	HGSNAT	EPHB4	HDAC8	REEP1	TNFRSF11B	GDF6	KLHL41	DEGS1	GYG1	CYP2U1	TMEM106B	CREBBP	TAF13	FGFR2	CSPP1	NEFH	CHRNA1	STIM1	STX1B	GRIA4	CLCN2	RPS29	VAMP1	SPR	GLI2	VCP	SAMHD1	MT-TF	PROC	HSD11B2	PDHX	DHFR	MT-CO2	F7	PRX	KRT81	DNM1L	CLPX	POMT1	WWOX	CD3G	LMNA	TUBB6	SCNN1A	SAMD9L	DZIP1L	MT-TC	MEGF10	SNORD118	RBCK1	SLC25A46	PPCS	SLC52A2	CDON	KIF14	TTN	CIC	MAPKBP1	ACTN4	STXBP1	MT-CO1	SELENON	TWIST1	SFXN4	MPC1	ROGDI	GJB6	MTRFR	VWF	GRHPR	ADD3	SCN2A	EBP	MITF	FAM126A	BCORL1	GCH1	MT-CYB	TRPV4	NRIP1	PLAA	TUBB3	POLG	VPS13D	F10	CFAP53	COL4A1	PIGH	GFPT1	MYH2	SIX1	CFD	NDUFA1	KIF11	PTCH1	AARS1	CACNA2D2	NUP107	ALX4	AGRN	POMT2	FGF12	MCM2	SLC3A1	POLG2	RARS1	RYR1	PAFAH1B1	TPM3	MT-TS2	PNPLA2	EP300	GANAB	VEGFC	PIGA	FKTN	NAA10	SURF1	SF3B4	SCN4A	SETX	B2M	IFIH1	DLX5	ERCC1	NEUROD2	KCNMA1	NDUFAF6	MT-TQ	GNAS	ATL1	AFG3L2	MT-TK	DAG1	MATR3	KCNQ5	DHDDS	IARS1	SMARCB1	MT-ND1	GTPBP3	KCNA1	METTL23	FARS2	SGCA	MRPS7	SPAST	EXOSC2
HP_INCOMPLETE_PENETRANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCOMPLETE_PENETRANCE	TLR3	SMAD9	PROKR2	TERC	CACNA1A	GATA5	MET	PKD2	GABRB3	PARN	MT-ND1	ELOVL4	MNX1	DCC	ATP1A3	PRPF31	STAT1	TERT	SIX3	SCN4A	PUM1	DSTYK	TM4SF20	MSH6	FGF23	GUCY2D	CTLA4	DCHS1	TTN	LZTR1	PTCH2	PDGFB	FMR1	BRCA2	TRPV4	VWF	POT1	RORB	KMT2B	SLC12A5	GABRG2	ACTN4	PRPF8	FOXE3	KRIT1	CHRNA7	SDHB	MT-ATP6	RANBP2	GLI2	SHH	NF2	ANO3	DEPDC5	MN1	PRRT2	LRSAM1	PROK2	DCX	FH	FLCN	RBM12	PAX2	PTEN	INAVA	PRCC	NPRL2	NRIP1	MT-ND4L	KIF1B	TENM4	NR5A1	COL4A1	SIX1	BMPR2	DLST	CAV1	VMA21	MT-ND6	OPA1	CACNB4	RAD51	NLRP12	KIF11	ATXN10	MT-ND5	CACNA1S	MFN2	TOR1A	SLC2A1	GJC2	EPHB4	EYA1	CFC1	ELP1	CHRNA4	IKZF1	FGFR1	CDH23	MT-ND4	PITX1	ATP1A2	COL4A2	DZIP1	KCNK3	RTEL1	GJA5	CHRNA2	SGCE	RELN	SCN1B	KIF5A	SUFU	TBK1	KLF13	IFIH1	DLX5	JAG1	CPOX	UCHL1	ATL1	GREB1L	GRIN2A	GJB1	MT-CO3	PRKCG	PTCH1	THAP1	SMARCB1	CTNNB1	DDX41	LRRK2	CILK1	HNRNPDL	SMARCE1	ANXA11	HCN1	ERBB3	NPRL3	TICAM1	CLCN2	RPS29	LRP5	MT-ND2	WNT10B	CRELD1	GJA8	MT-CYB
HP_SHOULDER_DISLOCATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHOULDER_DISLOCATION	CHST3	COL1A1	ARFGEF2	COL1A2	FLNA	NEDD4L	NGLY1	ERMARD	ARF1	TMTC3	AEBP1	COL5A2	MAP1B	B3GAT3	COL5A1
HP_ABNORMALITY_OF_UPPER_LIMB_EPIPHYSIS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_UPPER_LIMB_EPIPHYSIS_MORPHOLOGY	EVC	COL9A2	RUNX2	GPX4	TRAPPC2	GDF5	CPLX1	FGFRL1	FGFR3	SRCAP	ERCC8	IHH	GNPAT	COL2A1	LETM1	NKX3-2	COG4	TRPS1	SALL1	NPR2	COL9A1	ARSL	KCNH1	CTBP1	DYM	NPR3	EIF2AK3	COL9A3	TRIP11	KIF15	PRKAR1A	MIA3	MATN3	MGP	BGN	IFT140	EXT1	POR	TONSL	SLC26A2	ATR	IFIH1	RAB23	ERCC6	BMPR1B	TRPV4	PCNT	IFT172	IFT52	NSD2	EVC2	RPS6KA3	COMP	FLNA	NEK1	RMRP	FLNB	MRPS28
HP_BOWED_HUMERUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BOWED_HUMERUS	RSPO2	RNU4ATAC	B3GALT6	KIAA0753	FLNB
HP_ABSENT_FOREARM_BONE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_FOREARM_BONE	TBX3	DONSON	FANCC	SF3B4	FGFR3	LMBR1	RECQL4	FANCD2	RIPK4	FANCB	ZIC3	TBX5	FGF10	RBM8A	FLNB	CHD7	WNT7A	SALL4	FGFR2	MAFB	CHN1	FANCE	FANCA	GLI3	TRIO	SEMA3E
HP_ABNORMALITY_OF_THE_RADIAL_HEAD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_RADIAL_HEAD	AFF3	CD96	EXOC6B	B4GALT7	EXTL3	ESCO2	DONSON	ASXL1	RNU4ATAC	LMX1B	SKI	B3GALT6	CLCN3	NOG	TBX15	GPC6	SLC39A13	FLNA	PRKAR1A	B3GAT3	BMP1	COL5A1	NIPBL	KIF22	COL1A1	RECQL4	EP300	MAP3K7	FZD2	SCARF2	GSC	IFITM5	ATR	SRCAP	ERCC1	CHRNG	ARID1B	SHOX	NOTCH2	COL27A1	CREBBP	ANAPC1	COL5A2	CHST3
HP_ABNORMALITY_OF_RADIAL_EPIPHYSES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_RADIAL_EPIPHYSES	SLC26A2	COL9A2	BGN	COL9A1	IFIH1	COL9A3
HP_ABNORMALITY_OF_ULNAR_METAPHYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_ULNAR_METAPHYSIS	NDN	COMP	RECQL4	SNRPN	MAGEL2	COL2A1	MMP13	COL10A1	MMP9	ANAPC1
HP_ABSENT_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_HAND	TP63	PLXND1	EOGT	LMBR1	EPS15L1	SEM1	RBPJ	IKBKG	TBX3	NOTCH1	ARHGAP31	REV3L	WNT10B	DLX5	DOCK6	DLX6	BTRC	DLL4
HP_SCLEROSIS_OF_HAND_BONE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCLEROSIS_OF_HAND_BONE	ERCC6	TRPS1	ERCC8	EBP	EIF2AK3	GJA1	LEMD3	LMNA	SLC34A2	NGLY1	TONSL
HP_MITTEN_DEFORMITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MITTEN_DEFORMITY	COL7A1	COL17A1	DSP	KRT5	LAMA3	MMP1	LAMB3	ITGB4	LAMC2
HP_MACRODACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACRODACTYLY	PIK3CA	PTEN	AKT1	AIP	GPR101
HP_ABNORMAL_2ND_FINGER_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_2ND_FINGER_MORPHOLOGY	CANT1	BMP2	BMPR1B	GPC3	BHLHA9	GDF5	HOXD13	RUNX2	INTU	FLNA	RPL10	MED25	IRX5	MED12	OPA3	TWIST1	MYCN	CSGALNACT1	MEIS2	COL2A1	TGDS	FIG4	IHH	HOXA13	PIK3CD	CHSY1	FGFR2	KNSTRN	PTRH2	KIF15	GPC4
HP_MIDLINE_DEFECT_OF_THE_NOSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MIDLINE_DEFECT_OF_THE_NOSE	ZSWIM6	HYLS1	GRIP1	PTCH1	ALX1	ALX4	NUAK2	ALX3	LONP1	FREM1	EFNB1	NF1	TFE3	FRAS1	FREM2	TBX4
HP_ABNORMAL_3RD_FINGER_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_3RD_FINGER_MORPHOLOGY	PKDCC	RTL1	IHH	PIK3CD	SMC1A	CHSY1	MED25	GDF5	FGFR2	KNSTRN	FGFR3	DLK1	SLC26A2	PTRH2	EN1	TWIST1	GNAS	MEG3	FGF10	COL2A1	GLI3
HP_ABNORMAL_4TH_FINGER_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_4TH_FINGER_MORPHOLOGY	ASXL3	MECOM	IHH	GDF5	PIK3CD	ABCC8	KCNJ11	FBXW11	SNRPN	COL2A1	GLI3	KNSTRN
HP_ABNORMAL_5TH_FINGER_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_5TH_FINGER_MORPHOLOGY	RERE	OFD1	PRKACB	CITED2	PYROXD1	LZTFL1	CDC6	BRAT1	TMEM216	CCDC28B	SRCAP	RAD51	RB1	HYLS1	XYLT1	BRAF	RRAS	GPC3	RBM8A	CKAP2L	NKX2-5	RIT1	EVC	GTF2I	FANCC	BCOR	NKX2-6	NCF1	CHSY1	ROR2	MAPK8IP3	KDM1A	PHF21A	EIF4H	IFT140	HDAC4	GATA6	RUNX2	TRIO	AMER1	FANCF	SATB2	SDCCAG8	ERCC4	GPC4	FANCD2	IFT27	LIFR	ODC1	BMPR1B	DDX59	CANT1	MAN1B1	GATA4	MYLPF	B9D1	LMBR1	TWIST1	BBS5	GNAS	MYCN	CC2D2A	RSPRY1	FGF10	SMARCA4	RPL10	IFT74	CFAP418	HOXD13	SLC29A3	OBSL1	CEP290	ARMC9	CEP19	ATG7	CRKL	PAFAH1B1	FANCL	NEK1	SC5D	GJA1	HOXA11	SMC3	TBX4	PLAG1	PACS2	BHLHA9	BBS7	MBTPS2	DSP	SMARCB1	GLI3	EFNB1	WIPI2	WDR35	NUP37	MRAS	BUB1B	WDR4	MAD2L2	SHANK3	FANCA	PPP2R1A	BCL7B	CLCN3	ARID1A	TGFBR1	KDM6A	PIK3C2A	FGFR2	TCF20	TMEM107	SMOC1	TFAP2B	DYNC2I1	NIPBL	CD96	SOX11	BPTF	AUTS2	TELO2	PRDM16	ARID1B	CHD7	IGF2	PITX1	MEIS2	NXN	GATA1	METTL27	LMNB2	DHCR7	CREBBP	GDF5	PIGN	FLT4	CEP57	FANCB	TMCO1	DVL1	SNRPB	AKT1	MAP1B	FANCI	TCTN2	SMC1A	RPGRIP1L	ATP6V1B2	PKDCC	CENPJ	FGD1	CCNQ	KIAA0825	RAD21	PLAA	PIK3R2	TRIM32	IFT172	LEMD3	COL2A1	TRRAP	ELN	GMNN	RFC2	KRAS	LIG4	ZNF141	PNPLA6	QRICH1	RBBP8	HOXA13	MEGF8	UBE3B	PRR12	FKBP6	SPRED2	FLNA	BRD4	HMGA2	BMP4	RAB18	MACROH2A1	ATR	SMARCD1	DYNC2H1	OTUD5	MKKS	ZFPM2	GLI2	RAI1	IFT80	TGDS	VPS13B	EMG1	POLA1	GATA5	BUD23	REV3L	RAD51C	KIF7	FANCE	DNAJC30	TCTN1	SLC2A10	CIBAR1	PCNT	RNU4ATAC	SIAH1	COL11A1	GDF1	FLII	CCND2	PIGL	SPOP	AKT3	VPS37D	ATRX	DEAF1	WNT5A	LMX1B	L1CAM	CCDC8	TBX1	SMARCA2	BUB1	TRPS1	TMEM67	SALL1	ZNF462	MKS1	TRIP13	EP300	B3GLCT	YWHAE	PDE6D	H19	BRCA2	XRCC2	PLXND1	IHH	RNF216	CDT1	ACVR1	KMT2A	AGO2	COX4I1	PIEZO2	BRCA1	PQBP1	AMMECR1	KCNJ2	PTPN11	MBD5	KDM6B	ORC1	MLXIPL	HDAC8	ORC4	KDM4B	ARID2	IFT122	XRCC4	SNRPN	ESCO2	INPP5E	DONSON	NOG	FLNB	TBC1D24	CTCF	RAF1	EIF4A3	FBXW11	AFF2	C2CD3	SPECC1L	C12orf57	CEP152	LIMK1	CNOT2	KCNK4	TFAP2A	TMEM231	CEP120	KAT6B	PUF60	BBS9	KMT2D	ALG12	BBS2	SHH	PRKCZ	TBX3	CSPP1	CHRNA7	CCDC32	TMEM237	UBE4B	SEMA3E	KDR	EVC2	NEXMIF	USP7	ALX3	DPAGT1	BBS1	CDKN1C	CENPE	TP63	NONO	FZD2	PACS1	SOX4	JAG1	PALB2	KCNAB2	SMARCC2	ARL6	BMP2	FANCG	RAC1	MECP2	TRAPPC9	PIGS	SOS1	DHPS	MMP23B	NIN	KPTN	KIF15	MIA3	CUL7	SHOX	PDPN	ZDHHC9	SMARCE1	KLF13	FGFR3	NSUN2	SPRED1	GNB2	RAB23	DACT1	RPGRIP1	UBR1	MAPK1	STAG2	WDR19	NRAS	SOS2	PORCN	BUB3	TBL2	SLC9A7	EXT2	AP1G1	CDC45	MASP1	WNT7A	IFT43	RASA2	MAF	FANCM	B9D2	HSPG2	SPEN	MECOM	BBS12	TTC21B	NUP85	STAG1	TMEM270	BRIP1	DYNC2LI1	BBS4	ZC4H2	DYM	DPF2	SOX6	DYNC2I2	ATRIP	CHST3	SLX4	CNOT3	STX1A	DVL3	TRPV4	BAZ1B	TCTN3	SMO	CASZ1	SCAPER	RRAS2	PLK4	BBS10	LBR	TXNDC15	CUL4B	HIC1	LZTR1	B3GALT6	BCR	GTF2IRD2	KAT8	WDPCP	PIGH	BLM	UBE2T	BBIP1	UBE3A	LUZP1	IFT52	TBX15	NAA10	ZNF292	PTEN	JUP	TTC8	ZMYM2	TRAIP	GJA5	SETBP1	RFWD3	GABRD	SKI	PTH1R	SH3PXD2B	NPHP1	IQSEC2	CLIP2	TMEM218	CBL	GTF2IRD1	OGT	CEP55	IGF1	ORC6
HP_ABNORMAL_5TH_FINGER_PHALANX_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_5TH_FINGER_PHALANX_MORPHOLOGY	BMP2	BMPR1B	PUF60	BHLHA9	GDF5	GJA1	HOXD13	RUNX2	TFAP2B	ROR2	GNB2	IGF2	MYCN	ARID1B	COL2A1	DVL1	GATA1	NOG	RBBP8	WNT5A	ZNF141	NIN	KIF15
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	BMP2	BMPR1B	PUF60	BHLHA9	GDF5	GJA1	HOXD13	RUNX2	TFAP2B	ROR2	GNB2	IGF2	MYCN	DVL1	GATA1	NOG	RBBP8	WNT5A	NIN
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	IGF2	ARID1B	TFAP2B	COL2A1	GJA1
HP_ADVANCED_OSSIFICATION_OF_CARPAL_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADVANCED_OSSIFICATION_OF_CARPAL_BONES	CANT1	B3GALT6	XYLT1	SLC35D1	SETD2	PTH1R	SLC10A7
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	TRPV4	ASPN	SMAD3	TRAPPC2	MATN3
HP_DUPLICATION_OF_HAND_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUPLICATION_OF_HAND_BONES	CANT1	PIGG	OFD1	COMT	TMEM67	TMEM237	PRKACB	LZTFL1	CEP120	AKT3	FLNB	MKS1	TMEM216	GATA1	CCDC28B	ROR2	HYLS1	GPC3	ESCO2	INPP5E	SMOC1	EVC	IFT172	ACTB	CHSY1	CTBP1	CEP41	C2CD3	MBTPS2	TCTN2	GLI1	IFT140	ACTG1	FAM149B1	CC2D2A	NELFA	TFAP2A	RPL18	RPS17	RPS7	TMEM231	AHI1	UBE2T	SDCCAG8	TBX1	GPC4	PROP1	BBS9	PAH	IFT27	RBM10	BBS2	SHH	RPS28	BMPR1B	LETM1	PIBF1	DDX59	TBX3	CPLANE1	B9D1	CSPP1	LMBR1	BBS5	FANCB	ZIC3	RPL35	SALL4	FGF10	TCTN1	NSD2	IFT74	CFAP418	EVC2	HOXD13	ARVCF	CHD7	RPL5	CEP290	ARMC9	CEP19	FGFR3	UFD1	ALX3	RPS27	BBS1	NEK1	FANCE	FANCA	SC5D	ZNF699	SEMA3E	BBS7	PNPLA6	INTU	FANCC	LHX4	RPGRIP1L	TFAP2B	HIRA	LHX3	GLI3	EFNB1	ABCA12	CPLX1	WDR35	ARL6	RPS20	NUP107	WASHC5	RPL27	TGFBR1	DYNC2LI1	FGFR2	RPL35A	TMEM107	PIK3R2	RPS10	DYNC2I1	GDF5	RPS26	CD96	EBP	TOPORS	SMO	FLNA	NPHP1	RPS15A	RAB23	DACT1	RPGRIP1	POU1F1	PORCN	KIAA0586	SEC24C	DHCR7	TMCO1	MAFB	CHN1	WNT7A	B9D2	RPL15	KIAA0825	FGFRL1	PLAA	TRIM32	BBS12	TTC21B	EFTUD2	PIK3CA	ZNF423	BBS4	ZNF141	DYNC2I2	HOXA13	KATNIP	CBY1	MEGF8	KIAA0753	CEP104	BMP4	FANCD2	KIF7	DYNC2H1	TWIST1	OTUD5	MKKS	RPS19	GLI2	RAI1	PUF60	IFT80	TCTN3	RPL11	SCAPER	BCOR	BBS10	LBR	TXNDC15	RPL26	CIBAR1	JMJD1C	BHLHA9	FLI1	CCDC22	FLII	RPS24	WDPCP	PDE6D	CCND2	BLM	SH2B1	HESX1	DEAF1	PHF8	DVL1	BBIP1	SUFU	ADA2	PPP2R3C	SALL1	GJA1	NAA10	ARL3	TTC8	ARL13B	RPL31	TMEM138	SHMT2	SETBP1	PTEN	RPS29	TBX5	LEMD3	TSR2	WDR19	RREB1	IQSEC2	EXTL3	GP1BB	WNT5A	ACOX1
HP_SYNOSTOSIS_INVOLVING_BONES_OF_THE_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNOSTOSIS_INVOLVING_BONES_OF_THE_HAND	EVC	FGF9	BHLHA9	NONO	HOXD13	FGFR3	TCF12	TFAP2B	FGF16	RECQL4	GDF5	SALL4	POR	ESCO2	NOG	FLNB	SMOC1	APC	B3GALT6	CHSY1	ROR2	IHH	DYNC2LI1	PAX3	BMPR1B	TWIST1	HOXA13	FLNA	MYH3	MACROH2A1	PITX1	ZIC1	NXN	EVC2	PTDSS1	GLI1	MAP3K7	FGFR2	ANAPC1	FBLN1	RBM8A	PQBP1	LRP4	ATP7A
HP_SHORT_PALM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_PALM	FGF9	WDR81	FGD1	NOG	CAMK2G	KDM4B	KAT6B	IGF1R	ROR2	NDN	SMAD4	GPC3	FBN1	SMARCA2	SNRPN	SIL1	RAB3GAP2	CHSY1	IHH	RECQL4	PTH1R	HDAC4	DYNC2I2	FGFR2	COL11A2	TRIO	LTBP3	YY1AP1	PRKAR1A	GPC4	BGN	PIGL	DVL3	RSPRY1	SNIP1	COL2A1	PUF60	EVC2	SCUBE3	INPP5K	MAGEL2	KRAS	TRPS1	CRKL	COG4	CCBE1	RMRP	CUL4B	MSL3	SIN3A	TBCE	MRPS28	ORC1	KDM5C	WAC	BCR	COL11A1	FGFR3	FZD2	HERC2	INPPL1	FGFR1	WNT5A	CRLF1	DVL1	GDF5	PPP2R3C	PTDSS1	EVC	ATP7A	LMNA	PIK3R1	PWRN1	RAI1	MKRN3	SNORD115-1	DYNC2I1	HDAC6	FLNA	ANTXR2	DPM1	TONSL	BHLHA9	GPX4	MAPRE2	B3GLCT	MAPK1	IFT80	GATA1	COL9A2	DYNC2H1	MAP3K7	NPAP1	TRIP11	SH3PXD2B	SNORD116-1	PWAR1	TBL1XR1	RNU4ATAC	KLHL15	ADAMTSL2	WDR35	KCNJ2	MBD5
HP_NARROW_PALM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_PALM	UBE3B	VPS13B	NDN	SNRPN	NPAP1	MAGEL2	SMS	SNORD116-1	PWRN1	AUTS2	PWAR1	DPYSL5	HERC2	KANSL1	MKRN3	SNORD115-1
HP_PSEUDOEPIPHYSES_OF_HAND_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSEUDOEPIPHYSES_OF_HAND_BONES	BMPR1B	SALL1	PCNT	KCNH1	CTBP1	NSD2	GDF5	CPLX1	FGFRL1	RPS6KA3	NPR3	RAB23	LETM1	NKX3-2
HP_ABNORMAL_GASTRIC_MUCOSA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GASTRIC_MUCOSA_MORPHOLOGY	FASLG	AIRE	MLXIPL	GTF2IRD2	FAS	ABCC2	SKIV2L	CISD2	RIPK1	VPS37D	GBA	PRKCD	ELN	CARD8	BCL7B	TMEM270	GTF2I	LBR	NCF1	PLA2G4A	RFC2	RASGRP1	LIMK1	EIF4H	CTLA4	IPO8	WFS1	IGKC	TTC37	FKBP6	STX1A	NFKB1	BAZ1B	ARID1B	CDH1	CASP10	METTL27	IGHG2	TBL2	CLIP2	BUD23	DEF6	GTF2IRD1	DNAJC30	LRBA	FOXP3	SYK
HP_ABNORMALITY_OF_THE_BILIARY_SYSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_BILIARY_SYSTEM	CIITA	TNPO3	UGT1A1	PKLR	EPB41	SLCO1B3	CYP7B1	COMT	MPV17	REL	EPCAM	FCGR2A	TMEM216	UQCRFS1	CCDC28B	GATA6	GBA	HBB	G6PD	GTF2I	PEX3	NCF1	PTPN3	TSHR	EIF4H	PEX19	CYP27A1	TMPRSS6	TCF4	NELFA	MED12	UNC45A	DZIP1L	SLCO1B1	IGKC	TTC26	RHAG	INTU	ATP8B1	LETM1	FH	TPI1	CC2D2A	IL12A	PYGL	POMC	MARS1	LPL	ESCO2	GALT	DEF6	PRF1	ACADVL	SHPK	ADK	SPTA1	RNASEH2C	TG	ATP7A	SC5D	IFIH1	GCLC	PHKG2	SLC25A13	PSAP	HSD3B7	IL12RB1	ABCD3	CPLX1	WDR35	CALR	CYP7A1	STX11	BCL7B	PEX14	MIF	PEX6	PRSS1	TGFB1	SPTBN1	AMACR	LYST	IYD	ACVRL1	SERPINA1	MMACHC	GALM	PEX12	IFT140	MED25	HNF1B	SLC2A1	PCSK1	CTRC	ABCG8	JAG1	HYOU1	FLI1	CPOX	ABCB4	POU1F1	HK1	METTL27	RNU4ATAC	SPINK1	DHCR7	NPC2	DCDC2	NSD2	NPHP3	HMGCL	AKR1D1	CPA1	PEX16	POU2AF1	FADD	SP110	PKHD1	SLC44A1	AIRE	SCARB2	DMPK	HADHB	VPS33B	ASXL1	DHFR	CEACAM6	INSR	ADAR	GNAS	SEC23B	VPS4A	ELN	NR1H4	TBX1	PRKAR1A	ALAS2	RFC2	KCNN4	RABL3	MICOS13	GALE	FARSB	CLDN1	ARSA	GYPC	SLC4A1	PNPLA2	SPTB	NKX2-5	PEX26	KRT18	FKBP6	GLRX5	TMEM67	SCNN1A	LYZ	SLC30A10	IRF5	SPIB	RFX5	LMNA	PEX5	GLIS3	DUOX2	ETFB	CDIN1	SON	ANK1	IGHG2	CTBP1	ITCH	BUD23	ABCB11	TBX19	RFXAP	ALG6	DNAJC30	SLC6A14	ATP6AP1	CFTR	BRCA1	RPGRIP1L	GFM1	SAA1	TFAM	TTC7A	SPOP	VPS37D	RHD	LIPA	BRCA2	ARL13B	COG6	PEX1	TFE3	MECP2	APOA1	SCNN1B	IARS1	IL2RG	USP53	UNC13D	SLC51B	NBAS	B2M	ATP6AP2	YARS1	SLC26A4	IFT172	GSTM3	CDKN1B	ETFA	NEK8	F5	GP1BB	POLG2	BCS1L	RNASEH2A	IL18BP	FGA	ADAMTS13	CASK	PARS2	PIGG	RINT1	MLXIPL	STK11	SUPT16H	ERCC4	LBR	ABCC2	ETFDH	RFXANK	TSHB	PFKM	ASAH1	PRPS1	CTCF	POLG	HADHA	LIMK1	MMEL1	PIEZO1	SLC51A	GNE	PROP1	HSD17B4	IER3IP1	SLC16A2	INPP5E	ALDOA	RAB27A	ALDOB	CD40LG	SLC26A9	SCNN1G	EIF2AK3	UROS	ARVCF	SMPD1	HOXD13	KRT8	UFD1	DCTN4	DPAGT1	BBS1	SMAD4	NSD1	CNOT1	ZNF699	PALB2	ARG1	RFX6	NEUROG3	RNASEH2B	LHX4	HIRA	LHX3	NOTCH2	TJP2	SLC10A1	SETD2	ARL6	VIPAS39	PGM1	CEP290	FCGR3B	ANKS6	EDNRA	PRSS2	FOXF1	PAX8	TP53	SLC9A3	KIF3B	PALLD	FECH	PHKA2	GNB2	DUOXA2	SLC37A4	TRMU	ATP11C	UBR1	MKS1	SEC24C	CDAN1	CASR	TBL2	PEPD	ZIC3	PIGA	SAMHD1	APC2	FGFRL1	KMT2E	RNF43	BLVRA	EPB42	CLCA4	PEX11B	SPECC1L	AP1S1	CCDC47	TMEM270	HFE	BPGM	SEMA4D	HMOX1	PEX10	LONP1	PEX13	CEP83	LMBRD1	OCLN	KDM5C	STX1A	GDF2	CDKN2A	DGUOK	ALG8	BAZ1B	BAAT	USP9X	GALK1	TRAF3IP1	JAK2	JMJD1C	IFT122	CEACAM3	GTF2IRD2	GPI	ATP7B	TRHR	HESX1	GPR35	RHCE	IL21R	NPC1	PEX2	MST1	TPO	IL36RN	TNFSF15	STXBP2	TTC37	AP1B1	TREX1	HBG2	SLC11A1	EARS2	CCDC115	B3GLCT	SLC5A5	FUCA1	COG7	ENG	KRAS	RREB1	GCGR	CLIP2	COX4I2	GTF2IRD1	KIF12
HP_ABNORMALITY_OF_THE_ABDOMINAL_WALL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ABDOMINAL_WALL	ELN	TGFB3	TGFBR1	COMT	COLEC10	DDRGK1	EED	EOGT	SKIV2L	SRCAP	RAD51	GATA6	TWIST2	XYLT1	MAT2A	RRAS	COL1A2	CDKN1C	GPC3	ABCC9	AGA	FAH	CDC42	MYH11	RIT1	GTF2I	FANCC	SCN2A	CEP120	EZH2	NCF1	HSPG2	KCNQ1OT1	ROR2	ALDH18A1	EIF4H	HDAC4	TOR1A	MED12	ERCC3	AMER1	FANCF	LMOD1	ERCC4	TTC26	GPC4	MPLKIP	FANCD2	LRP2	PAH	ODC1	FBLN5	CANT1	FIBP	DSE	ZMPSTE24	SLC2A10	FGFR1	CHRNG	RPL10	RNF13	MTHFR	GTF2E2	CHD7	NEU1	TGFBR2	CRKL	PAFAH1B1	SHPK	COLEC11	FANCL	SLC26A2	LMNA	LTBP1	COL5A2	SMAD3	FRAS1	DVL3	TG	ATP7A	GNAO1	PLAGL1	AMHR2	SEMA3E	CHST3	PLAG1	MID1	SLC25A24	TBCK	HYMAI	IRF6	GMNN	NAA10	GLI3	AEBP1	FREM2	WDR35	MRAS	FREM1	EFEMP2	ATP6V1A	MAD2L2	SLC10A7	FANCA	PPP2R1A	BCL7B	SKI	KMT2C	MYH3	CHUK	TTC7A	KNSTRN	DDX6	IYD	TGFB2	TMEM107	DYNC2I1	NIPBL	TASP1	CD96	FLNA	FLNB	TTC37	FUCA1	TBX1	IFT81	KCNA1	MED25	TARS1	AUTS2	POGZ	IGF2	SEMA5A	ARID1B	PLOD2	MTOR	NXN	POU1F1	METTL27	DIS3L2	BRF1	TRIP11	PPP1R12A	PIGN	COL11A1	RPS6KA3	FANCB	TMCO1	EHMT1	DVL1	STS	FKBP14	FANCI	FTO	ESS2	ZEB1	DNMT3A	COL5A1	PLOD1	IDS	FGD1	COL1A1	PIK3CD	LONP1	RTL1	CHRM3	POLR2A	INSR	NLRP3	GALNS	TRRAP	SMCHD1	TENT5A	MAN2B1	KCNH1	RFC2	DNMT3B	DACT1	KRAS	FARSB	LBR	PIEZO1	LDHD	PRKG1	BMP1	MEGF8	RIPPLY2	PRR12	ATAD1	NKX2-5	FKBP6	TNRC6B	SPRED2	TSHR	IRX5	MAPRE2	HMGA2	MECP2	MCOLN1	GLIS3	PIK3R1	HELLS	DUOX2	SNIP1	C1S	DGCR2	TSHB	TGDS	MYLK	SIK1	COL2A1	WDR19	BUD23	RAD51C	FANCE	SATB2	DNAJC30	MBTPS2	ATRX	GRM7	BRAT1	GLRA1	KIF7	DLL3	PNKP	DMXL2	FLI1	RPGRIP1L	GNE	MEG3	CASK	SCN1B	VPS37D	SMAD4	THRA	GUSB	WNT5A	SALL1	SMAD2	PTDSS1	ADAMTS2	MASP1	CBS	TFE3	TP63	NFIA	PIEZO2	TUBB	ARSB	KDM3B	B3GLCT	GPHN	AMH	DLK1	YWHAE	ATP6V0A2	PIGQ	ELOVL4	C1R	H19	HEY2	BRCA2	CLCN4	XRCC2	DYNC2H1	GRIP1	GP1BB	BCS1L	ATP1A2	AP1S2	RIN2	BRCA1	NAT8L	PORCN	BCOR	SERPINH1	FBN1	POLR3GL	PTPN11	GNPTAB	NOTCH3	MLXIPL	GDF11	ABCD4	NEUROD2	RIPK4	XRCC4	BRAF	ZBTB24	SLC6A5	CTCF	RAF1	SLC5A5	FBXW11	SPECC1L	DGCR6	LIMK1	ISL1	COL11A2	CC2D2A	AR	ANTXR1	PUF60	PROP1	TBX3	INPP5E	CDKL5	APC	OCRL	NECTIN1	MESP2	GLRB	ARVCF	ELMO2	SUZ12	ACTG2	CLDN19	HOXD13	CDH11	NOTCH2	KAT6A	UFD1	KCNJ11	MANBA	KDM5B	MAMLD1	CCBE1	EN1	NSD1	MFAP5	BCL11B	ABCC8	PAX8	GDF1	FZD2	HLA-DQA1	PACS1	LHX4	VANGL2	HIRA	LHX3	PALB2	UPB1	SETD2	SHOC2	BSCL2	AGPAT2	HYLS1	WASHC5	FANCG	RAC1	PIGS	HNRNPA1	LFNG	FGFR2	SOS1	PITX2	ARX	SETBP1	SHANK3	GTF2H5	GNB2	RAB23	DUOXA2	COL3A1	SLC37A4	GLB1	MAPK1	NRAS	SOS2	MKS1	SEC24C	TBL2	CDCA7	NOTCH1	ERCC2	PTCH1	ZFP57	KRT1	NSDHL	ZIC3	LTBP4	NPHP3	RIC1	TRAF7	PRDM5	RASA2	MAF	NALCN	FANCM	APC2	TRIM8	ADNP	DHCR7	GAD1	LOX	DYRK1A	NFIX	TMEM270	CAVIN1	PPP2CA	BRIP1	FOXF1	NEK9	P3H1	SOX6	DYNC2I2	GPC6	B3GAT3	OFD1	PHGDH	SLX4	CREBBP	ACTA2	STX1A	PIGY	BAZ1B	EFNB1	RNF2	RNF113A	MEIS2	CHST14	ADAMTSL2	RRAS2	USP9X	RMRP	IDUA	TMEM70	CUL4B	HIC1	PRKG2	SIN3A	LZTR1	JMJD1C	BHLHA9	IFT122	PLD1	BCR	GTF2IRD2	CCDC22	MED13L	UBA1	KCNJ8	UBE2T	HESX1	DPH1	STRA6	ATP6V1E1	PPP2R3C	TPO	HES7	IKBKG	GJA1	ALG9	FOXE3	MMP2	SLC35C1	KCNQ1	BMPER	SEC31A	IPO8	NDUFA8	HLA-DQB1	CTNND2	SF3B4	RFWD3	CTNNB1	MMP14	IFT80	PYCR1	SH3PXD2B	DGCR8	WNT3	RREB1	PIGP	CLIP2	CBL	SLC25A22	GTF2IRD1	TMEM67	MSX1	CWC27
HP_FUNCTIONAL_MOTOR_DEFICIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FUNCTIONAL_MOTOR_DEFICIT	SACS	TRAPPC11	SLC25A4	MYO9A	SELENOI	ALS2	AGRN	BIN1	MYO1H	PYROXD1	MT-TE	DAG1	MAPT	GIPC1	STUB1	CHCHD10	TBX20	FBXO38	PLEC	AP4B1	PIK3R5	LAMP2	RYR1	YARS2	GPT2	CHRNE	DYSF	ALG2	SCN3A	WARS1	RAB11B	WDR48	GABRB2	NTRK2	DNAL4	ATP2B3	SZT2	NKX2-5	HCCS	BAP1	PGAM2	SYT2	C1QBP	TOP3A	CCDC88C	SLC25A1	MSTO1	RNASEH1	TAFAZZIN	MAP3K20	TWNK	MT-TH	MT-TK	SMARCE1	HTT	MYF6	EXT2	RSPRY1	DCC	GMPPB	MT-ATP6	UBE3A	REEP1	ATP13A2	TRAF3	BRCC3	LAMA2	PHKB	MT-CO1	COLQ	TRAF7	LRP4	CHP1	EIF2S3	MT-ND1	ARL6IP1	ASAH1	COL6A2	TAF1	POLG	KY	NTRK1	FA2H	RNASEH2C	NACC1	YWHAG	HPCA	IFIH1	PHKG2	SBF2	PLP1	AGK	FDX2	GLE1	ARV1	PSAP	TPM3	ITGA7	GOSR2	AKT3	TIA1	SH3TC2	NTN1	PUS3	FLNC	ACTA1	RSPH9	UNC93B1	SLC18A3	GFPT1	STRADA	SGCG	NTNG1	POMK	ATP1A2	DNAJB6	RTN2	DARS2	MT-TF	CACNA1A	GALC	KCNB1	AP4S1	MTMR14	FKRP	CRYAB	ASPA	C19orf12	SYNJ1	DDX6	FUS	GRID2	SPG21	FIG4	MTRFR	MRE11	GATA4	UBA5	CHRNB1	MED25	MT-CO2	SMC1A	CCN6	POLG2	DNM1L	SMS	AP4E1	DOK7	TRMT5	DES	GJC2	CHRNA1	GTPBP3	GYG1	MT-TL1	RAPSN	TERT	HSPB1	PRNP	PDGFB	CWF19L1	PGK1	MTPAP	TLR3	NKX6-2	GRIN2D	NKX2-1	HK1	TGM6	ALG14	PIK3CA	TPM2	DYNC1H1	FAR1	COL12A1	SNCA	SPTLC1	DNM2	SIGMAR1	BAG3	DAB1	POLR2A	IBA57	COL13A1	COA3	ADAR	MUSK	SPEG	POMGNT1	TMEM251	ADCY5	POMT1	PANK2	SLC1A2	PRKAR1A	EEF1A2	FLRT1	ERCC8	KCNA2	FKTN	FARSB	ARSA	AARS1	TGFB1	MORC2	MYPN	TTN	PNPLA2	SGCA	OCA2	GCDH	VCP	SLC5A7	CPT1C	CALR	SLC30A10	MYH7	COQ2	GBA	ACTL6B	GPAA1	TCAP	FARSA	ERLIN1	CDH23	TRPV4	RRM2B	MICU1	ABHD5	CYP2R1	PDE10A	CDKL5	RASA1	GBA2	PDK3	TK2	COL6A3	DNM1	DPAGT1	BICD2	FGF14	ACTC1	TNPO3	PUS1	SCYL1	STX11	MFF	SLC2A3	VPS13A	ABCD1	CYFIP2	TDP2	VPS13D	SLC34A3	CASQ1	EPHB4	KLHL41	GIGYF2	CAPN1	GRIN2A	FLAD1	SLC13A5	DNA2	COASY	VWA1	PRX	GABRA5	RARS1	PMP22	MYOT	STIM1	HACD1	ANO5	LDHA	EIF4G1	AIP	SPAST	TET2	PHKA1	GJB1	MECP2	CNKSR2	PARS2	PGAP1	COX7B	NECAP1	GPHN	SURF1	UNC13D	CLTC	ERCC6	COL6A1	AP4M1	SDHAF1	COQ8A	NDUFB11	HNRNPK	SDHD	GABBR2	MT-ND4	BCS1L	RNASEH2A	KLC2	CDK8	PRF1	AP3B2	PYCR2	MT-ND6	CAPN3	SETX	SNAP25	WASHC5	PFKM	MGME1	SQSTM1	TICAM1	SGCB	MT-CYB	GRM1	NOP56	SLC19A3	RNU12	GDAP2	HADHA	SDHA	LRP12	KBTBD13	LIG3	MT-TW	NUP62	KIF1C	SLC7A6OS	SCN4A	NEB	KLHL9	EXT1	HADHB	ELOVL5	NUS1	NF2	JPH3	GABRA2	DLAT	POPDC3	EIF2AK3	SCN8A	KPNA3	LRRK2	FKBP14	SMO	TBCE	VDR	FTL	RAD51	DNAJC13	MT-CO3	CPT2	ATP1A3	PEX2	CDK19	MPL	AKT1	CHRND	ERCC1	TTBK2	ARG1	LRIF1	RNASEH2B	LAMB2	MFN2	NOL3	SORD	VMA21	CHAT	FHL1	ADSS1	PGM1	ALAD	HCN1	NDUFS8	AOPEP	PLEKHG5	SMARCB1	NPR3	TBC1D23	NOTCH2NLC	GAN	GDAP1	NUBPL	TPP1	HERC1	SUFU	PHKA2	CITED2	SLC25A32	SLC30A9	MYL2	CACNA1B	BVES	TLL1	TYMP	ERCC4	ALDH4A1	NEFH	PEX6	CIZ1	DYM	ENO3	SAMHD1	MPZ	VAMP1	WWOX	ABCC8	CRPPA	SYNGAP1	PI4KA	CYP27B1	ATP6AP2	ACAD9	KCND3	CELF2	CAVIN1	MEGF10	SDHB	MT-TS2	UBAP1	PPP3CA	CLN8	RPL10	NDUFS4	ATP6V1A	ATL1	TRAK1	ORAI1	GABRG2	KCNC3	USP9X	TMEM126B	MT-ND5	PYGM	SLC25A19	ACOX1	HINT1	DHTKD1	MYH6	MT-TN	ARHGEF2	RSPH4A	BSCL2	SELENON	SPG11	TFG	POMT2	DMD	ATP7B	PMP2	WARS2	GATA6	MATR3	FGF12	NEFL	SCO2	HACE1	LPIN1	GYS1	JAK2	COX20	KCNJ10	VPS35	INTS1	B4GALNT1	FGF13	PKP1	GLRA1	STXBP2	SGCD	MATN3	HSPB3	FUZ	MARCHF6	LMNB1	MEN1	DHDDS	AK9	ATP5F1D	ISCU	ARSI	TBK1	TREX1	MT-TQ	MIEF2	SPART	DDHD1	DALRD3
HP_ABNORMAL_MUSCLE_FIBER_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MUSCLE_FIBER_MORPHOLOGY	TRAPPC11	SLC25A4	MYO9A	ALS2	AGRN	BIN1	PYROXD1	DAG1	COL6A1	MT-ND3	RYR1	DYSF	MT-ND5	KLHL41	CHRNE	COL6A2	ALG2	ADSS1	SUCLG1	JAG1	TTN	SYT2	EMD	SLC25A1	MSTO1	MT-TL2	MT-TN	MYH7	MAP3K20	TWNK	MT-TH	MT-TK	CAV3	MYF6	TRIP4	GMPPB	LAMA2	PFKM	MT-CO1	COLQ	SYNE2	MT-TP	MT-TI	LMNA	MT-ND1	RRM2B	POLG	MYO18B	MYH14	LARGE1	STIM1	PHKG2	TPM3	ITGA7	PSEN1	TIA1	MT-ATP8	GLI3	COX6A2	ACTA1	LMOD3	GFPT1	NEFL	SGCG	DNAJB6	MT-TF	KY	MTMR14	PHKB	TOMM40	KCNJ18	CRYAB	TNXB	CHRNA1	MT-ND6	COL6A3	FUS	CHRNB1	MT-CO2	POLG2	GFER	CASQ1	MT-TL1	GNE	RAPSN	POMT1	MT-TW	FHL1	TNNT1	ALG14	TPM2	KCNA1	COL12A1	PLOD1	SLC22A5	SPTLC1	DNM2	SIGMAR1	CCDC174	PABPN1	POMGNT1	SPEG	MYOT	POMT2	MT-TC	FKTN	MYPN	PNPLA2	CARS2	DPAGT1	VCP	SLC5A7	CACNA1S	LDB3	DGUOK	SELENON	CRPPA	STAC3	TCAP	COQ5	POMK	ABHD5	COL13A1	TK2	MT-CYB	TNPO3	DPM3	NEB	CNBP	VPS13A	SIL1	ASCC1	CFL2	AIFM1	ORAI1	FKRP	CCDC78	HACD1	FXR1	ZFHX4	SYNE1	KLHL40	TRPV4	COL25A1	IFIH1	HNRNPK	MT-TQ	MICU1	MATR3	MT-ND4	BCS1L	CHCHD10	GABRA3	ACTN2	PSEN2	MYL2	ABCA7	SQSTM1	SGCB	DOK7	TRIM32	MT-TV	TYMP	LRP12	KBTBD13	LIG3	SCN4A	NDUFA4	HNRNPA2B1	GYG1	SDHA	POPDC3	SNAP25	NDUFB3	HPDL	MT-CO3	APP	CHRND	LRIF1	MTM1	SARS2	LAMB2	SLC25A26	DYNC1H1	CHAT	GIPC1	MUSK	HNRNPA1	SURF1	CLCN6	TOR1AIP1	COQ8A	ANO5	PHKA2	SLC25A32	GGPS1	OPA1	BVES	PNPT1	CAPN3	FLNC	MT-TE	CPT2	NEFH	SORL1	SPG7	ENO3	MT-RNR1	TMEM43	VAMP1	SPTBN4	LRP4	MT-TS2	NOTCH2NLC	ALDOA	NDUFS4	SLC18A3	COQ2	PYGM	MT-ATP6	GARS1	PPARG	SPG11	MYH2	MT-ND2	DMD	LPIN1	GYS1	JAG2	EARS2	UBA1	KCNE3	AK9	AFG3L2	ISCU	MGME1	TREM2	HNRNPDL	UNC45B	MIEF2	DHX16	TRMU
HP_INVOLUNTARY_MOVEMENTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INVOLUNTARY_MOVEMENTS	LMNB2	NOTCH2NLC	TARDBP	DRD2	TIMMDC1	CACNA1I	NCDN	CHCHD2	RTTN	SLC2A1	YEATS2	OPA3	MT-ND1	FLVCR1	CHCHD10	CEP41	RAB11B	ATXN1	HDAC4	FAM149B1	CCNF	MICOS13	ERCC3	SUCLA2	CRAT	GTPBP2	CHRNA2	TWNK	SMARCE1	REEP2	PDK3	CILK1	DLST	MT-ATP6	MYT1L	TBCD	NEFL	TRAF7	ASAH1	TAF1	POLG	GLYCTK	SYNJ1	CC2D1A	ARV1	EHMT1	TIMM50	GLRX5	SQSTM1	PSEN1	SH3TC2	MT-ND6	CAV1	TXN2	FUS	CASR	ERCC5	ATP1A2	SDHD	RTN2	PDGFB	GALC	CLCN3	FRRS1L	MAPT	ATP1A3	NIPA1	CACNA1B	LYST	DDX6	PPP2R2B	RAI1	ITPA	TRAPPC11	GJC2	CHAMP1	RMND1	CPLANE1	UBA5	DUSP6	SLC39A14	SOX5	TARS1	POLG2	AMT	PSAP	SMS	RAB3GAP2	SYT1	CUX2	GBA2	HDC	TERT	FGF8	MT-CO3	SOX10	STAMBP	NKX6-2	DYRK1A	SNCA	ALDH18A1	VHL	PIK3CA	SLC44A1	SPEN	VWA3B	SCN1A	DAB1	AUH	PLA2G6	POMGNT1	PNPLA6	DCC	LEMD3	ADCY5	GLUD2	SDHAF2	FMR1	CACNB4	NUP214	OFD1	QRICH1	CHMP2B	RAB39B	SLC25A13	OCA2	GAMT	CLPB	CEP104	VAPB	CDK19	SET	DCAF17	SPATA5	RET	HIBCH	TSC2	MTRFR	ANO3	ERCC6	MICU1	HCN1	ATP5MK	BUD23	GCH1	DNAJC30	SDHB	BRAT1	PRKRA	SCN9A	PNKP	VPS13A	SNX10	SETD1B	NR4A2	PLPBP	PTEN	EMC10	ARSA	EFHC1	SCN1B	NDUFA1	AASS	FOXRED1	SLC16A2	DEAF1	FXR1	PIGT	ERCC8	RAB11A	SPAST	CSPP1	SLC1A3	XPA	PITX3	MECP2	PGAP1	IQSEC2	EP300	NECAP1	ABCD1	GPHN	CLTC	PROK2	COG8	GNAO1	TMEM127	PHACTR1	STX16	CACNA1G	THAP1	COX4I1	FARS2	CACNA1A	NF1	GABRA3	PRNP	PURA	MKS1	VLDLR	ABCA7	WASHC5	QDPR	KCTD7	SLC6A17	HERC2	SLC6A5	HSPD1	KIF1A	GABRG2	CYP7B1	SCO2	AIFM1	CTBP1	SLC19A3	PINK1	RYR1	DLAT	NKX2-1	CC2D2A	LRP12	ATN1	MT-TW	NUP62	BICD2	KIF1C	TRAPPC9	FGF13	HIKESHI	SDHA	CDKL5	GABRA2	CYP27A1	KPNA3	SOD1	PIGL	CERT1	UGT1A1	SMPD1	FTL	GABRB3	DNAJC13	DPAGT1	HMGCL	NDUFA9	TPP1	GM2A	ATXN2	KCNAB2	PITRM1	IREB2	MT-CO1	MAG	CIC	CP	SYNGAP1	MFN2	CLCN7	OCRL	SMARCB1	DDC	SELENOI	PPP1R15B	PRDM8	TANC2	MSTO1	VPS37A	MDH2	SLC25A46	GNA11	SUFU	B9D1	SGCE	NLGN3	SLC30A9	REEP1	SCN2A	SLC25A22	MPZ	MAPK1	APP	COQ2	KCNA2	GRIA4	TBC1D24	MT-TF	AFF3	RSRC1	DLL1	HSPG2	CPLX1	CTH	ABCB4	PRPH	MT-TT	PIK3R5	PCBD1	NTRK2	FGF17	CEP126	HSD17B10	KCNA1	GRIK2	SPTBN4	PC	MT-TS2	UBAP1	XPR1	KATNIP	PGAP3	PHGDH	UGDH	KMT2B	MYORG	STXBP1	KIF7	BAZ1B	ATM	RFT1	NEU1	SDHC	SLC12A2	KCNC3	UQCRC1	FAM126A	MT-ND5	PANK2	MT-TV	MAOA	PDE10A	ABCB6	PDE6D	KDM5B	HYLS1	TMEM106B	HTRA2	TRAPPC12	PRUNE1	MMUT	CRADD	OPA1	TAOK1	WDR45	NUTM2B-AS1	ARL3	POU4F1	ASXL3	FH	TANGO2	MOCS2	ADSL	ABHD12	SLC25A15	ZMYM2	MAN1B1	SPG11	FOXG1	PDYN	TOE1	CLIP2	SMN1	DHDDS	CLN6	GTF2IRD1	TRAPPC6B	TREM2	VPS13C	TMEM67	ATXN10	CCDC88C	TRIO	DALRD3	SACS	COA7	ALS2	YY1	EIF4G1	FLCN	SEMA6B	POLR3K	BRAF	PDHA1	CWF19L1	MT-CYB	CCDC88A	FRMPD4	ITPR1	PARK7	AP4B1	MT-ND3	CDH15	RAPGEF2	FXN	GTF2I	TIMM8A	ATXN3	PRRT2	HINT1	SUCLG1	SZT2	AP2M1	BAP1	CNPY3	SYT2	NHLRC1	DRD3	MPLKIP	LIAS	MT-TH	TMEM240	UBE3A	ADA2	MT-ND4L	GALT	NADK2	FA2H	RNASEH2C	SNRPN	TSFM	ADGRV1	SMC1A	KIF1B	CAMK2B	SLC1A4	ZMYND11	NTNG1	ZEB2	IRF2BPL	NDP	ASH1L	CHD7	AFG3L2	C19orf12	HNMT	WDR26	SLC25A4	TH	NPHP1	SUOX	MT-CO2	FLRT3	AUTS2	PIGV	PRDM16	POGZ	CEP120	NAGA	VPS53	PIGN	POU3F4	NSD2	NDUFAF3	GRIN2B	TUBB4A	PDE2A	SCN8A	HEXB	CHD2	SPTLC1	DHFR	RERE	NDUFS2	TSHR	LNPK	EEF1A2	PRKCG	PRPS1	TKT	PNPLA2	KIAA0753	COL6A3	SAMD12	PGAP2	NTNG2	FOXP1	JRK	CCDC141	SIK1	ANO10	DYNC1H1	NONO	PLP1	PODXL	GABRA1	GRM7	NR2F1	GLRA1	OPTN	SCYL1	APOE	MARS1	PRSS12	VPS13D	PMPCA	ABCB11	ITM2B	DCTN1	GRIA2	DNM1	ATP13A2	PIK3CD	EPM2A	SMARCA2	PRKN	GJB1	ARL13B	CSNK2B	TMEM222	NEXMIF	ATP8B1	GRIN1	SLC13A5	SATB1	RNASET2	MME	SETX	AFF2	KCNMA1	TOR1A	NAT8L	AP3B2	GATAD2B	LAMA1	MLXIPL	TNFAIP3	NEUROD2	AKT1	DNAJC6	GRN	ZC3H14	MYH14	TSEN2	FBXW11	TYROBP	TFG	NOP56	SURF1	RNU12	TACR3	CA8	BEAN1	UQCRQ	CACNA1S	TMEM231	HMGA2	PGM3	NR1H4	PUF60	UROC1	SARS1	SLC7A6OS	C9orf72	ELOVL5	NUS1	NF2	CCT5	UBE4B	SLC20A2	KIF5A	ALKBH8	GRIA3	VCP	CREBBP	NEMF	AR	HUWE1	SLC12A6	DARS2	CHMP1A	KIF5C	RNASEH2B	TSEN34	MBD5	TSEN54	UBTF	ST3GAL5	RAC1	SEPSECS	CUX1	KIRREL3	KCTD17	POLR3B	CTC1	MBOAT7	TBC1D23	MYBPC1	MMP23B	KPTN	UBQLN2	TMEM237	GTF2H5	MGAT2	CRBN	TNRC6A	GRIN2A	ERCC2	PNPT1	PEX6	VAMP2	CIZ1	GLDC	GNAS	ADPRS	SPR	SAMHD1	WWOX	ABCC8	TRIM8	TNIK	FGFRL1	PI4KA	HMBS	HTT	FBXL4	HCFC1	TGM6	ZFYVE27	ATP6AP2	PUM1	PPP2R5D	INPP5E	HESX1	CLN5	CBY1	JPH3	CRH	ZBTB20	CDH23	CNTNAP2	STX1A	NDUFS4	ATP6V1A	SLC25A10	CD28	ATL1	SFXN4	TRAK1	ADAR	POMT1	TMEM70	SLC9A6	BSCL2	ZFR	CAPN1	MINPP1	NGLY1	UFC1	TBK1	SPTBN2	BCR	GTF2IRD2	ADH1C	UBA1	PIGO	MT-ND2	FGF12	LETM1	CACNA1D	LUZP1	GUF1	MAX	KCNJ10	TTR	CHRNB2	LMNB1	SHMT2	CARS1	GABRD	SKI	FGF14	SPRY4	CAMTA1	MAPK10	VPS41	ADGRG1	TREX1	MT-TQ	AP1G1	TBP	SLC6A3	PRODH	DCPS	PIGA	SLC9A1	STUB1	MACF1	EXOSC3	FBXO38	TAT	LARP7	PNP	PTCHD1	CLCN2	EIF4H	JAG1	PIGW	VPS35	ATP2B3	TPI1	GCK	POLR3A	EBF3	ERBB4	KCNT1	LRSAM1	ST3GAL3	DOCK7	CRKL	SLC18A2	SLC6A9	HPCA	ATP7A	SC5D	IFIH1	ERLIN2	CNTN2	GOSR2	TSC1	SBF2	FMN2	SLC46A1	DNMT1	POU3F3	SHANK3	HS6ST1	SCP2	TOMM40	ADRA2B	SPTBN1	KNSTRN	SERPINI1	CSTB	NDRG1	MRE11	NAXD	MARCHF6	PTCD3	MRPL12	ZSWIM6	TUSC3	MT-TL1	TMEM63A	METTL27	GABRB2	NPC2	MTPAP	NSUN2	SCARB2	LRRK2	ERGIC1	NDUFA13	ATXN7	VPS4A	ELN	OXR1	SAMD9L	SLC1A2	DHX30	AARS1	SNORD118	KCNQ3	PTS	SLC52A2	PPP3CA	ATAD1	FKBP6	RAB18	GBA	KCND3	ACTL6B	MT-TK	CABP4	KCNK9	ERLIN1	POMK	ZFYVE26	PNKD	WFS1	ARX	SMN2	SLC25A42	VPS37D	VWA1	GABRA5	RARS1	UCHL1	SLC25A21	TNR	TFE3	GON7	CNKSR2	MED23	PARS2	TSPYL1	PSAT1	AP4M1	CLCN4	SLC30A10	GABBR2	RNASEH2A	ACP5	TCTN2	YRDC	MYL2	TBR1	TTI2	NOVA2	RFC1	DDOST	PCDH19	OSTM1	PNPO	PRKCZ	THG1L	HNRNPA2B1	POLR1C	WARS2	NEFH	CTDP1	GPAA1	GLRB	TNPO2	CUL4B	ELP2	NAA15	PEX2	ARID2	ADNP	HLA-DQB1	PIGQ	XPNPEP3	CACNA1H	TSEN15	SLC6A1	NBEA	ACBD5	TNNT1	PDPN	TBX1	KCNC1	NDUFB8	KCNQ2	LINS1	GGT1	ERCC4	UBE4A	EXT2	TTC19	EZR	PAH	APC2	TMEM216	MED17	AMACR	CELF2	KMT2A	MYO5A	CTSF	VRK1	MORC2	RPL10	POMT2	GSS	EPRS1	BCORL1	CHRNA4	CTLA4	SLC45A1	TCTN3	B3GALNT2	RPGRIP1L	KCNQ5	TCIRG1	DENND5A	MT-ND4	ACAT2	COX20	RORA	PFN1	PDGFRB	BRSK2	NDUFAF5	MOCS1	CYB5A	EXTL3	SPART	SLITRK1	WDR81	CHD3	NAXE	KYNU	NCF1	GPT2	MRPS34	SLC25A11	DYSF	SCN3A	AHI1	DNMT3A	NDNF	MEN1	HPRT1	CACNG2	GTF2E2	MT-TP	MT-TI	ATG7	MADD	AP5Z1	NACC1	YWHAG	C12orf4	CHD1	LRPPRC	AKT3	TENM4	PRICKLE1	RHOBTB2	EIF2AK2	APTX	TNFRSF1B	BCL7B	GCDH	TRPM3	KCNB1	AP4S1	KCNJ18	GPR88	TOPORS	NDE1	MYOT	DNM1L	TSPOAP1	AP4E1	NARS1	ATP7B	LMAN2L	KIAA0586	GRIN2D	AMPD2	ATP6V1B2	PIGP	GCSH	FBXO7	SIGMAR1	GFM2	CLIP1	PRICKLE2	CLN3	RFC2	SLC17A5	WASHC4	CAMK2A	NLGN4X	PROKR2	PRDX1	GRM1	CARS2	BICRA	RORB	PPT1	FGFR1	ATCAY	NAA20	MEF2C	COQ5	TECR	FBXO31	TK2	NFASC	DMXL2	SLC39A4	SLC2A3	CYFIP2	FLII	SPTAN1	HNRNPH2	CASK	GIGYF2	MMAA	METTL23	EDC3	EXOSC9	NAA10	HSPB1	RLIM	COQ8A	CTNND2	CACNA1E	TTPA	ADAMTS13	WDR11	KAT5	MRM2	PSEN2	IRF4	MED25	PMP22	RRM2B	PIGC	USP8	IFRD1	BOLA3	LIMK1	MECR	NDUFA4	PIBF1	SPOP	FEZF1	TCTN1	SMO	SNCAIP	KAT6A	ZNF142	PEX10	FAR1	NSD1	CLN8	SLC33A1	NDUFV1	IQSEC1	NOL3	MED12L	PGK1	SETD2	SEMA3A	SLC6A8	TUBB3	GMPPB	TCF4	PLCB1	KIF15	TNFSF11	IL17RD	DPM1	TTC5	EPB41L1	GNB2	ANOS1	TBL2	SORL1	ATXN8OS	VAMP1	ACO2	THOC2	OPHN1	ELOVL4	SCN4A	TMEM270	CERS1	HIVEP2	GUCY2D	MMACHC	PET100	KDM1A	HECW2	NAGS	UFSP2	GLA	NDST1	RNF113A	CASZ1	AARS2	DEPDC5	SYNE1	HNRNPA1	MTFMT	ZNHIT3	FKRP	ARMC9	SH2B1	CYB5R3	SLC5A7	CACNA2D2	RPE65	AIMP1	DOCK8	ABCB7	AGTPBP1	AP1S2	STX1B	DNAJC5	DPYSL5	PIGY	LEMD2	EPAS1	HNF4A	SLC52A3	DNAJC19	STARD7
HP_ABNORMAL_ENDOCARDIUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ENDOCARDIUM_MORPHOLOGY	CSRP3	IL12A-AS1	MLXIPL	GTF2IRD2	SLC22A5	PRKAR1A	IL12A	ABCC6	IFNGR1	MEFV	HLA-B	VPS37D	GBA	ELN	BRAF	C4A	ENPP1	BCL7B	TMEM270	GTF2I	TLR4	VCL	NCF1	IL17RA	MYL3	RFC2	CLEC7A	IL10	LIMK1	EIF4H	MYH7	KLRC4	TAFAZZIN	FKBP6	GJA5	ACTN2	STX1A	CCR1	ERAP1	PTPN11	RAF1	IDUA	SP110	BAZ1B	PDGFRA	IL17RC	IL23R	METTL27	TBL2	CLIP2	GLA	BUD23	IL17F	FAS	GTF2IRD1	TRAF3IP2	MLX	IL12B	STAT4	LDB3	DNAJC30	MCM10	UBAC2
HP_ABNORMAL_ANATOMIC_LOCATION_OF_THE_HEART	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ANATOMIC_LOCATION_OF_THE_HEART	HYDIN	B9D2	ZMYND10	DRC1	LZTFL1	CEP120	CCDC40	MKS1	SRCAP	DNAH5	DNAH9	DNAAF4	ACVR2B	TMEM216	PKD2	CCDC39	STK36	DNAAF5	ODAD2	DNAAF11	DNAAF2	SPAG1	ODAD1	DNAL1	CEP41	TTC12	PIEZO2	CCNO	TCTN2	NODAL	INPP5E	MEGF8	TMEM67	CDH2	UBR1	KATNIP	AHI1	CBY1	CFAP298	FOXJ1	TTC26	PRRX1	INVS	DNAI2	CEP104	ODAD4	PIBF1	LRRC56	CPLANE1	GAS8	ZMPSTE24	RPGR	B9D1	CSPP1	RSPH4A	MNS1	TMEM237	WT1	OTX2	RSPH1	DNAAF3	COL18A1	HES7	TCTN1	ARL2BP	CCDC65	NECTIN1	TCTN3	EVC2	SLC19A2	DNAI1	OFD1	TGDS	GLI1	TXNDC15	SPEF2	DNAH1	ZNF423	DNAAF1	GDF1	IRF6	CFAP53	RSPH3	LMNA	HYLS1	MCIDAS	CEP290	ARMC9	MYRF	SH2B1	GAS2L2	SUFU	CCDC103	ANKS6	CFAP300	TMEM107	RSPH9	ARL3	DYNC2LI1	CFC1	DNAAF6	CFAP45	RPGRIP1L	CFAP52	ARL13B	MMP21	TP63	NEK10	TTC8	ODAD3	CC2D2A	EVC	RPGRIP1	DNAJB13	KIAA0586	DNAH11	NEK8	NME8	ZIC3	NPHP3	PQBP1	MSX1	CFAP221	TMEM231	BCOR	CRELD1
HP_VENTRICULAR_ARRHYTHMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENTRICULAR_ARRHYTHMIA	MT-TW	CACNA1S	NOS1AP	GABRA3	MT-ND6	ABCC9	SRY	MYBPC3	RYR2	PRKAG2	PLXND1	KCNJ11	SCN1B	MT-CYB	TBX20	LMNA	MT-TL1	RRM2B	KCNQ1	LAMP2	MT-ND5	TBX5	KYNU	MT-TV	PKP2	CALM1	RAF1	MAX	NPPA	BTNL2	AKAP9	TSHR	TSC2	ABCC8	VPS33A	NKX2-5	CASQ2	CALM2	DPP6	GPD1L	TTN	UCP2	TRDN	TWNK	MT-TH	MT-ATP6	GYG1	FBP1	SCN5A	DSP	SLC25A20	KCNJ18	BMP2	MT-CO1	TSC1	TECRL	TPM1	SYNE2	KCNE2	MT-ND4L	MT-ND1	EMD	CLCNKB	POLG	ACADVL	MT-ND4	PLN	KCNE1	ZNF699	VHL	SLC12A3	CACNB2	PGM1	HNF1A	MT-TF	KCNH2	CACNA1C	SDHB	KCNE3	FHL1	MYL3	KCNE5	CALM3	SFTPB	MT-CO3	SLC25A4	GATA4	MYL2	CITED2	MT-CO2	POLG2	SLC19A2	TNNI3K	SPRED1	KCNJ5	ELP1	NDUFB11	IFNG	GTPBP3	CPOX	TLL1	CAV3	TMEM127	JUP	ANK2	RYR1	KCNJ8	DSC2	TMEM43	SDHD	HMBS	MYOZ2	NDUFS2	SLC4A3	CAVIN1	MT-TC	SEMA3A	RET	GNB5	MT-TS2	KCNJ2	SCN10A	TET2	ABCA3	CACNA2D1	MRPS14	GJA5	SCN4B	ASXL1	CDH23	ACTN2	HCN4	MT-ND2	KCND3	MYH7	CUBN	PYGM	TCAP	LDB3	MYH6	ACTC1	MTFMT	TRPM4	SDHC	CNBP	DNMT3A	SCN2B	JPH2	RHAG	ECE1	DST	FMO3	CTNNA3	FLAD1	ALG10B	RHD	GATA6	RHCE	NKX2-6	DSG2	SRSF2	SCN3B	SNTA1	GNAI2	SCNN1A	TNNC1	CPT2	TANGO2	GAA	SLMAP	SYNE1	CSF2RA	NAA10	JAG2	SCN9A	KIF1B	DTNA	HFE	CSF2RB	TGFB3	MT-TQ	CDH2	MT-TK	HNF4A	RANGRF	DNAJC30	HLA-DRB1	AMN	CSRP3	PPOX	SFTPC	KIT
HP_VENTRICULAR_PREEXCITATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENTRICULAR_PREEXCITATION	MT-TW	MT-TF	MT-ND6	MT-CO2	PRKAG2	MT-CO3	MT-CYB	NDUFS2	MT-TL1	MT-CO1	LAMP2	MT-ND5	MT-TV	MT-TC	TSC2	MT-TS2	GAA	MRPS14	JAG2	MT-TH	MT-ATP6	MT-ND2	MT-ND1	IFNG	GTPBP3	MT-TQ	BMP2	TSC1	MT-TK	MT-ND4L	MT-ND4	DNAJC30	TCAP	MTFMT
HP_ABNORMAL_MACROPHAGE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MACROPHAGE_MORPHOLOGY	CYBA	IFNGR1	STX11	CD27	ZNFX1	UNC13D	APOE	RAB27A	GLB1	SAMD9L	SGCG	LIPA	XIAP	SMPD1	STXBP2	SLC29A3	NPC1	PRTN3	CTLA4	NCF2	HAVCR2	NEU1	SLC7A7	LYST	NPC2	HLA-DPA1	PRF1	OSTM1	NCF1	ASAH1	CYBB	PTPN22	SH2D1A	HLA-DPB1
HP_ABNORMAL_RETICULOCYTE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RETICULOCYTE_MORPHOLOGY	FASLG	PKLR	RPL15	GATA1	EPB42	SLC4A1	SEC23B	PRKCD	PFKM	G6PD	RPS17	CFHR1	TERC	IFNG	KCNN4	RASGRP1	CPOX	SBDS	RPL35A	GYPC	SPTB	PIEZO1	RPL18	RPS7	ABCB6	RHAG	RPS28	FANCD2	RPL35	SPTA1	STEAP3	CLCN7	RPS19	CASP10	CDIN1	RPL11	ANK1	RPL5	CUBN	NHLRC2	RPL26	RPS27	FANCE	FANCA	GCLC	CFHR3	TCN2	FAS	FANCC	RPS24	TERT	PGK1	RHD	PRF1	RPS20	RHCE	ADA2	SLC2A1	RPL27	RPS26	RPS10	RPL31	MTTP	UROS	KLF1	MYSM1	HBB	RPS15A	HBG2	RPS29	TSR2	HK1	CDAN1	ABCG8	AMN	CFH	PIGA	EPB41	ADAMTS13	CASK
HP_DECREASED_CIRCULATING_ANTIBODY_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_ANTIBODY_LEVEL	CIITA	FASLG	MOGS	SLC25A13	WAS	REL	ICOS	SKIV2L	RIPK1	MTOR	RTEL1	PIK3CD	CD19	JAK3	RFXANK	PRKCD	IKBKB	PIK3R1	RAG1	CD79A	ZBTB24	NFE2L2	AK2	TIMM8A	TNFRSF13B	KRT5	BLNK	DCLRE1C	TCF3	VPS33A	TP53	RAC2	LAMTOR2	ERCC3	PLCG2	IGKC	MPLKIP	ALG12	AICDA	TNFRSF13C	CXCR4	CD3D	CD40LG	NFKB2	SLC26A9	RAG2	BACH2	XIAP	CASP10	GTF2E2	IKBKG	CD247	TNFSF12	DCTN4	IRF2BP2	MS4A1	CARD11	ERCC2	CASP8	PIGT	PTEN	CD27	CD81	SH3KBP1	TFRC	IGLL1	HLA-DQA1	LRRC8A	CD3E	IGHM	NFKB1	CFTR	SLC5A6	ZEB2	MIF	TRNT1	STAT3	EDNRA	TONSL	TGFB1	KNSTRN	MSN	IKZF1	PMM2	IL6R	CR2	CD70	SLC9A3	TTC37	GTF2H5	MGAT2	TARS1	HYOU1	GCLC	RNF168	ITCH	CDCA7	LRBA	CD79B	CARMIL2	SP110	EPG5	ITK	CEACAM6	EXTL3	CLCA4	NHEJ1	ZAP70	RFXAP	SLC46A1	IL21	STXBP2	CAVIN1	MAN2B1	FAT4	RASGRP1	HFE	DNMT3B	MAGT1	HMOX1	CD55	RFX5	CTLA4	CD40	TCN2	MTHFD1	ADAMTS3	BCL10	UNG	RNF113A	STX1A	CISD2	IL2RA	HELLS	ATM	SON	IGHG2	BLM	KRT14	TOM1	RMRP	SLC6A14	ATP6AP1	SH2D1A	RNU4ATAC	SYK	SPINK5	STX11	IL2RG	CEACAM3	CNBP	FAS	CTPS1	MYSM1	CCND1	PLVAP	NBN	SAMD9L	IL21R	BTK	CCBE1	LAT	COG6	SLC35C1	ADA	IPO8	HLA-DQB1	SPPL2A	CSNK2A1	UNC13D	KCNN4	B2M	SLC11A1	ATP6AP2	SLC7A7	GSTM3	IVNS1ABP	ADA2	SERPINA1	FLNA	RBM8A	PRF1	TNFRSF11A
HP_DECREASED_CIRCULATING_IGG_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_IGG_LEVEL	EPG5	RAG2	FASLG	CD81	IL2RG	MOGS	CNBP	FAS	CTPS1	REL	ICOS	CD3E	ITK	BLM	DCLRE1C	PIK3CD	SLC5A6	PRKCD	IL21	RAG1	CR2	RASGRP1	TONSL	KNSTRN	CD19	VPS33A	CTLA4	RAC2	ADA	CD40	TNFRSF13B	PMM2	TCN2	IL6R	SPPL2A	IGKC	AICDA	CSNK2A1	UNG	MGAT2	B2M	JAK3	TNFRSF13C	CXCR4	CD3D	CD40LG	SP110	NFKB2	BACH2	XIAP	CASP10	SON	RNF168	IGHG2	CD247	IVNS1ABP	EXTL3	TOM1	IRF2BP2	ATM	MS4A1	ERCC2	LRBA	ATP6AP1	CASP8	SH2D1A	SYK	SPINK5	TNFRSF11A
HP_DECREASED_CIRCULATING_ALDOSTERONE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_ALDOSTERONE_LEVEL	CYP11B2	HSD11B2	AIRE	MC2R	CYP11A1	CYP17A1	NR3C2	SCNN1B	AAAS	NR3C1	CYP11B1	MRAP	STAR	HSD3B2	TXNRD2	NR0B1	NNT
HP_VAGINAL_FISTULA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VAGINAL_FISTULA	SLC35A2	IL10RB	LONP1	RECQL4	JAK3	DACT1	SALL4	POR	UBR1	POLR1D	IFT80	FREM1	MNX1	DYNC2H1	SALL1	CCNQ	TCTN3	POLR1B	SPINT2	MKKS	CAPN15	DYNC2I2	DDB1	POLR1C	TCOF1	WDR35	DYNC2I1	KIF7
HP_INCREASED_BODY_WEIGHT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_BODY_WEIGHT	TP53	SMAD4	PROM1	INPP5E	COMT	MYT1L	EXOC6B	MECP2	SLC25A4	KLF11	YY1	BIN1	BBIP1	LZTFL1	CEP290	CFH	CCDC28B	CLCN4	POMC	DLK1	NDN	LEPR	AP4B1	KIZ	BBS4	KIDINS220	GTF2I	NEK2	SNRPN	NCF1	ARL6	PDE8B	MAPK8IP3	IGFALS	TRIP12	SOS1	PHF21A	EIF4H	HDAC4	BAP1	SDCCAG8	IMPG1	IFT27	ODC1	MAN1B1	FIBP	SMARCE1	HELLPAR	PRMT7	NDNF	MYF6	BBS5	GNAS	MEN1	UBE3A	IFT74	CFAP418	USP8	PHKB	TRAF7	POMGNT1	ALB	SYNE2	CEP19	PROK2	LMNA	EIF2S3	LRAT	BBS7	HESX1	ACADVL	TOGARAM1	SLC7A14	PCARE	CNTNAP2	PHKG2	REEP6	SMC3	SH3KBP1	EHMT1	PNPLA6	WAC	MC3R	HGSNAT	MEG3	NEUROD1	CDH23	CTNNB1	LEP	CYP7A1	SLC10A7	ARHGEF6	ABCA4	BCL7B	HS6ST1	KMT2C	NR0B2	FGFR1	AP4S1	KCNJ18	COPB1	CHD7	RIT1	IQSEC2	SPTBN1	DDX6	ALMS1	TCF20	BRAF	RAI1	PAX6	MKRN3	SPATA7	ATP10A	PRKACA	HACE1	DUSP6	MAGEL2	ARMC5	PDE4D	ZNF711	RTL1	FLRT3	ATRX	PCSK1	PRDM16	BLK	POGZ	AP4E1	AKT2	CRX	PDX1	PRKAR1A	MTOR	POU1F1	PROKR2	POU3F4	SUFU	TERT	FGF8	METTL27	AGRP	NPAP1	PDGFB	SOX10	BBS2	DIS3L2	HSD11B1	CREBBP	MOG	CTSH	TRIP4	TMCO1	USP9X	FTO	APOE	SMC1A	TUB	OCA2	GUCA1B	ZPR1	PIK3CA	PKDCC	CNGB1	ARNT2	SPEN	CERKL	LIPE	RP1L1	DNM2	CHD8	KDM6A	RAD21	TRIM32	RERE	IFT172	BDNF	DCC	COA3	ZNF408	CA4	ELN	VPS13B	TBX1	AFF4	RFC2	PDE6G	PNKP	ENPP1	MC4R	DLG3	SIM1	CD46	STEEP1	MEGF8	MKS1	KCNJ11	FKBP6	BRD4	IMPG2	RGR	AGBL5	CDHR1	MKKS	FGFR3	FOXP1	IGSF1	SCAPER	BLM	CCDC141	FRMPD4	BUD23	RAB39B	OFD1	ANK3	PRCD	EYS	DNAJC30	PRPF8	GLI3	ABCB4	PCNT	PHIP	HDAC8	DNMT3A	FLII	ARHGEF18	PIGL	AGTR2	VPS37D	RBMX	THRA	DEAF1	FXR1	INS	EP300	H6PD	TNFSF4	ARL13B	DHDDS	ARL2BP	IGF1R	UCP3	SPG11	PHF6	PIGT	HCRT	PDE6B	TFE3	SECISBP2	SNORD115-1	WNT4	TRAPPC9	SYNE1	ADCY3	PSMD12	SATB1	UBE2A	AP4M1	USP27X	DYRK1B	SH2B1	SEMA4A	ZNF81	GP1BB	PAK3	SNORD116-1	CELA2A	PRPF31	CEL	WDR11	CANT1	GABRA3	MLXIPL	SRY	SDC3	ZNF365	USH2A	PRPF3	ABCC8	XRCC4	CPE	IFT140	ZNF41	XYLT1	CTSK	NR2E3	GDI1	RP2	TACR3	HNF4A	LIMK1	FTSJ1	PAX4	RP1	WT1	BBS12	CACNA1S	LAS1L	IMPDH1	PROP1	BBS9	PIGN	PRKCZ	UCP2	TBX3	NF2	LARS2	FEZF1	UBE4B	CFI	ARVCF	ABCC9	SHOX	SLC9A7	CARTPT	AHR	SMO	MTMR14	CUL4B	UFD1	EMD	CNKSR2	GHR	BBS1	DDB1	AKT1	DYNC2I2	ADNP	PTEN	IFT88	IDH3B	FAM161A	LHX4	HIRA	LHX3	KCNAB2	PDE6A	SHOC2	SEMA3A	DMD	KLHL7	HNF1A	DHX38	EGF	FHL1	ADRB2	HLA-DQB1	ACSL4	SMARCB1	ROM1	MMP23B	AIP	NIN	SOX3	SYP	MIA3	RPE65	SLC7A7	RDH12	HERC1	IL17RD	PDPN	PHKA2	PRPF6	SHANK3	TSPAN7	RAB23	APPL1	NRL	RAF1	ANOS1	IDH3A	GNAS-AS1	MED12	SEC24C	TBL2	PWAR1	TOPORS	SNRNP200	ADRB3	MRAP2	COL10A1	HSPG2	IL1RAPL1	RPS6KA3	TMEM43	SOX2	THOC2	ATP6AP2	DPYD	NIPBL	GHRL	TMEM270	USP7	FGF17	BPTF	RBP3	MTTP	SETD2	RNF135	ZBTB20	PRPH2	SAG	MID2	STX1A	RNPC3	GCK	MAK	KIAA1549	TAF1	BAZ1B	FMR1	PPARG	RPGR	ARL3	RHO	NTRK2	CASZ1	ARX	BEST1	CNGA1	TRAF3IP1	ERMARD	ALG13	MERTK	BBS10	GATA4	MTFMT	SIN3A	P4HTM	JMJD1C	CNNM2	GTF2IRD2	PDE11A	ZNF513	ATP7B	TRHR	HERC2	RP9	FSCN2	TTC8	TAOK1	NKAP	KMT2D	CEP164	LUZP1	P2RY11	PTCH1	SETD1A	PWRN1	WDPCP	EDNRB	UPF3B	CLRN1	OTX2	PIGA	PTCHD1	TULP1	GABRD	SKI	MCM3AP	PRPF4	CYP19A1	CRB1	SPRY4	NPHP1	RLBP1	RREB1	CLIP2	TMEM218	TMEM67	HLA-DRB1	GTF2IRD1	UNC45B	RYR1	IGF1	PDSS1	STX16	HCFC1	AHI1
HP_CACHEXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CACHEXIA	SCNN1G	MAFB	POLG	BMPR1A	CENPJ	UNC80	SPG11	ALS2	ACADM	SPTLC1	EWSR1	NALCN	SIGMAR1	ATR	IRF4	RRM2B	LPIN2	ERCC4	GBA	CFTR	LIPA	NUP85	SUCLA2	ERCC3	TRIM37	GALC	HSPG2	NDP	STUB1	JAK2	SLC6A8	MECP2	CEP152	ERCC2	PSAP	NBN	TYMP	PTEN	TET2	SCNN1A	FUS	TGFB1	ATRIP	LIG3	TRAIP	CALR	LMNA	ERCC5	WT1	SCNN1B	CNTNAP1	PLK4	TRPV4	RBBP8	CUL4B	MPL	SLC9A6	AKT1	FOXP3	CENPE	PCNT
HP_ABNORMAL_VITREOUS_HUMOR_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VITREOUS_HUMOR_MORPHOLOGY	LRP5	COL11A1	GNAQ	CTNNB1	NR2E3	PROC	FZD4	ATOH7	VCAN	RB1	TSPAN12	NDP	ERBB3	COL9A1	ZNF408	LOXL3	CRPPA	GNA11	ARL3	PAX6	P3H2	COL18A1	COL9A2	COL2A1	HCCS	PRR12	TTR	BAP1	COX7B	HLA-A	SF3B1	NDUFB11	CAPN5	CYSLTR2	BEST1	COL9A3	RS1	NF2	CRB1	BCOR	KCNJ13
HP_ABNORMAL_ANTERIOR_EYE_SEGMENT_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ANTERIOR_EYE_SEGMENT_MORPHOLOGY	FAM111A	SEM1	PROM1	MYO5A	IL12A	ZEB2	TBCE	CTSA	GSN	RB1	COX7B	IL6ST	OTX2	SNRPN	BCOR	FLVCR1	CTNS	ENTPD1	HSPG2	SPRTN	CHSY1	CEP41	CDH2	SOS1	MED27	CYP1B1	TAP1	LRP5	ERCC3	FANCF	EXOSC5	ERCC4	COL17A1	PEX7	FANCD2	MAB21L1	GTPBP2	KRAS	TWNK	DLST	FGF10	CTC1	RNF13	DIS3L2	LRAT	EMC10	POLG	LMNA	FTL	STAT4	KDSR	PEX5	OSMR	TRIP12	SDHD	MED25	AGK	HGSNAT	NRAS	CAV1	PHYH	FZD4	ERCC5	COLEC10	MAD2L2	FANCA	KMT2C	TRIM44	PTCH1	YAP1	LAMB3	FBXW11	LYST	DDX6	PIK3C2A	RAB3GAP1	RPL35A	ITPA	MBTPS2	GRHL2	TRAPPC11	RTEL1	TCF20	RPS26	NIPBL	FLNA	JAG1	PEX12	BAP1	UROS	TARS1	POLG2	TONSL	RPS15A	RAB3GAP2	ALX3	CTNNB1	RLIM	WT1	GATA1	FOXE3	ALDH6A1	GALNT2	RDH5	ARL6	GNPTAB	FKTN	DYRK1A	DISP1	MAGEL2	MYT1L	APOE	ESS2	USF3	FIG4	ALDH18A1	VHL	OCA2	ALMS1	AIRE	MT-TF	PLOD1	RPL15	RP1L1	PAX6	LONP1	RAD21	POMGNT1	PEX11B	REST	ELN	H19	FAS	WNK1	PNPLA6	TBX1	SDHAF2	MT-TC	KCNH1	VARS1	ATAD3A	TUBGCP6	KIT	TENM3	MEGF8	PEX26	DCN	CLPB	LIPC	NDN	CEP104	UBE3A	COL9A2	PIGL	HPDL	CYP4V2	AGBL5	GLIS3	REEP6	PEX16	RAI1	ACTA2	DGCR2	PDE4D	ERCC6	PEX6	KLLN	WDR19	BUD23	TERC	TRIP13	NPHP3	WDR37	GBA2	GTF2E2	PMM2	FANCE	PRCD	DNAJC30	TFAP2A	PUS7	NLRP1	FLI1	BRCA2	ABCA12	SYNCRIP	KRT25	PTEN	KCNJ13	DST	DEAF1	GUSB	CRLF1	AGO2	DHDDS	SDCCAG8	RPS19	EMC1	TMEM107	MASP1	CBS	PIK3R1	ADAMTS10	COL18A1	ERCC8	CSPP1	MT-TE	XPA	PITX2	PITX3	POMT2	B4GAT1	MKS1	EP300	PRSS56	PEX13	SPTBN1	FGFR2	KIF1B	SHH	MAPRE2	LCAT	PIGQ	PRDM5	TMEM127	ZNF408	PLXND1	NDUFB11	PAX3	STX16	KAT8	GLA	SEMA4A	ETFA	TMEM67	AFF4	ATP6V1B2	BRCA1	VSX2	POLR3GL	IQCB1	NF1	APC	COL11A1	GAS1	SLC25A13	VCAN	HDAC8	FLNB	PRPF3	MIR184	VLDLR	KDM4B	GNA11	ASAH1	TGFBI	HERC2	EBP	CYP7B1	CEP164	CTBP1	MAX	SLC40A1	LAMA3	TCTN2	SLC4A4	RP1	CRYGC	ACTG1	CC2D2A	ZMIZ1	GPR143	TBC1D24	CENPF	AMER1	TMEM237	FANCI	DDB2	ARL2BP	CYP27A1	SEMA3E	RPL5	SCUBE3	TNRC6B	IMPDH1	LARGE1	TULP1	LTBP2	FGFR3	UFD1	GORAB	SALL4	DPAGT1	EDNRB	SLC4A11	AASS	PIGT	TACSTD2	GNAS	IFT88	ASPH	RALGAPA1	MLPH	TRAPPC2	CEP290	KCNAB2	FGFR1	PDE6A	NPM1	ALOXE3	MAG	KLHL7	WASHC5	SDHB	OCRL	PEX19	TRPV3	DSE	ACTL6A	ROM1	MYOC	POMT1	HLA-B	MDH2	CRYGB	SETD5	SMO	B9D1	PRPF6	NSUN2	RAB23	TGFB3	COL3A1	ELP1	PEX3	COQ2	MAPK1	FOXC1	SOX10	XPC	ANAPC1	HS2ST1	COL7A1	PEX1	SRCAP	RET	CPLX1	STS	GDF6	GMPPB	AP1S1	H1-4	ABCA1	BLOC1S5	P3H2	B3GALT6	CA8	OPN1MW	KATNIP	PGAP3	PHGDH	RECQL4	KIFBP	PRPH2	SAG	KMT2B	TUBB	KIAA1109	LZTR1	PTH	BAZ1B	TCTN3	NEU1	TP63	SDHC	WIPF1	FAM126A	BEST1	MERTK	TXNDC15	OPN1LW	SIN3A	ALDH3A2	UBE3B	SEC23A	HYLS1	ATP7B	TYR	NOP10	POLH	RTN4IP1	WDR81	UBE2T	RP9	PRUNE1	FSCN2	FERMT1	TTC8	TAOK1	CHST14	FBLN5	MED12L	ARL3	C12orf57	FH	ZFHX2	FBN1	CRYGD	INTS1	B4GALNT1	MOCS2	HLCS	SEC31A	NFIX	ABHD12	CLRN1	RPL31	ESPN	AAAS	RFWD3	ADAMTSL4	B3GLCT	CRB1	DGCR8	PCDH15	FUCA1	TSR2	ERCC2	DAG1	IQSEC2	CLIP2	GTF2IRD1	AP3D1	CPAMD8	BFSP1	DCT	MPV17	OPA1	EPCAM	TWIST2	HK1	KANSL1	KIZ	GTF2I	ABCA2	ARSL	MITF	MYH11	ERF	KRT5	DOCK6	HCCS	MPLKIP	LAMB1	COL2A1	EPHA2	LETM1	GALK1	FIBP	ACTB	FBN2	CRYAA	NF2	NHS	MAF	LRP2	GALT	TMEM216	MYO7A	NTRK1	COL5A2	RNASEH2C	PTCH2	PAH	GNAQ	PACS2	TBCK	LEMD2	TRIM28	FUT8	ARHGAP31	TUBG1	MAPK8IP3	SREBF1	ZNF335	BUB1B	WDR73	KIF1A	OFD1	NDP	CACNA1F	COL4A1	COL8A2	MT-ND6	NPHP4	MKRN3	RPS10	ATP10A	IMPG1	SALL2	CDON	NPHP1	SLC25A4	GJA1	SUOX	SLC2A1	PRDM16	POGZ	CHD7	CEP120	HARS1	RAB18	SMAD3	ARID1B	COL4A4	NSD2	STIM1	CCDC32	TBL1XR1	ARL6IP6	SLC25A24	PRMT7	SMC1A	ZEB1	CNGB1	FGD1	VIM	BLOC1S6	RERE	IFT172	MYH9	CA4	SMCHD1	USP9X	TLR4	SIL1	FGF5	TMTC3	PRKG1	LIG4	PRR12	GJB2	VSX1	ATP8A2	SLC39A4	SIPA1L3	BMP4	CLDN11	RGR	MT-CO1	CDHR1	TGIF1	PGAP2	ETFB	CRYAB	ABHD5	AP3B1	FOXH1	LSS	TBC1D20	ANO10	NEK9	ZBTB20	RAD51C	POMK	EYS	NOD2	PRPF8	NR2F1	TCOF1	MRPS28	BBS2	NAGA	CNBP	ATOH7	RPS24	UROD	GBA	IFNGR1	PLOD3	ITM2B	BTRC	LMX1B	HHAT	RPGRIP1	APOA2	ARL13B	ROR1	GLI2	RDH11	MTTP	ARSB	ANKRD11	ANKRD55	TGM3	COL25A1	TEK	TERT	IL23R	CFAP418	DYNC2H1	TBX2	ADAMTS17	BCS1L	AKT1	AEBP1	AIPL1	WDR35	GATAD2B	NOTCH3	PLEC	MLXIPL	SUFU	SLC45A2	SMAD4	LCA5	ALG8	XRCC4	TKT	LBR	MT-CYB	KCTD1	NR2E3	BTNL2	RP2	DGCR6	ATP6V1A	PDGFB	SLC39A8	PRKAR1A	PSMB8	VAC14	UROC1	LOXL1	RAB27A	LIM2	UBE4B	ARCN1	WRN	ARVCF	EPS15L1	IDUA	VCP	TKFC	CREBBP	NOTCH2	IDH1	BBS1	MPDZ	MFAP5	TANC2	CNGB3	CHMP1A	MAB21L2	ITPR1	IDH3B	RNASEH2B	GUCY2D	CRYBA2	DKC1	BCAS3	FAR1	SHOC2	RPS20	PIGV	INPP5E	CRYBA1	PTPN22	MMP23B	MT-CO3	RPE65	NLRP3	AGA	GTF2H5	BBS9	DACT1	NAA10	NRL	GFER	PNPT1	KCNV2	GSR	FAM111B	CHN1	SAMHD1	HRAS	SEC23B	ADNP	MVK	ALX1	FGFRL1	KRT81	FGF8	SCN9A	SPEN	CHST6	ANK1	FBXL4	PHOX2B	DPYD	IKZF1	MAP2K2	BRIP1	PPP2R5D	PEX10	GHR	CBY1	CPT2	AGBL1	STX1A	SCARF2	PLCB3	GZF1	RBP4	PUF60	RPL11	TSPAN12	PIKFYVE	IMPG2	TMEM70	NGLY1	JMJD1C	GJA3	GTF2IRD2	CIB2	GMPPA	FOXC2	OAT	PIGO	MSMO1	RBP3	KRT86	GJB4	LPAR6	RNU4ATAC	OPA3	LUZP1	MC1R	TBX15	ALG2	TDRD7	SH3TC2	TGFB2	ARL2	KLRC4	COL4A5	COL5A1	KRT12	GABRD	SKI	PRPF4	MMP14	SOS2	IFT80	DLL1	MT-TQ	WNT3	TAP2	MTAP	TREX1	CRYBA4	JARID2	COL9A1	SERPING1	AHI1	FAM50A	IL12A-AS1	NTNG2	MECP2	EED	B3GALNT2	CCDC28B	MAT2A	POLA1	SMG8	TAT	MT-ND5	SUMF1	FANCC	EIF4H	PIGW	APOB	OVOL2	C1QBP	LIFR	MYORG	ERAP1	SLC2A10	NODAL	HMX1	EBF3	CRYBB3	BRCC3	CASK	COL1A2	TAPBP	TGFBR2	ESCO2	CYSLTR2	SNAI2	SLC7A14	PCARE	FRAS1	TGM1	SC5D	IFIH1	SLC20A2	SMC3	CHST3	PTPN23	ERCC1	SRD5A3	SMARCAL1	SBF2	CRPPA	DNMT1	POLR1D	ALG3	SLC33A1	COG4	COPB1	RPL27	CRYGS	KRT3	KIAA1549	WDFY3	GALM	DYNC2I1	C1QTNF5	ELP4	TELO2	CRX	BCORL1	METTL27	NPAP1	DHCR7	PPP1R12A	PIGN	CEP57	TUB	GUCA1B	IDS	CERKL	KDM6A	KRT83	USP45	BDNF	GALNS	ADAR	MIPEP	VPS4A	DHX38	COL4A6	GCNT2	HPS4	KMT2E	KERA	FKBP6	BRD4	LDLR	OTUD5	PIK3CA	ZNF469	TCF7L2	PEX14	IGBP1	RETREG1	CLTCL1	VPS37D	LOXL3	KIF11	BFSP2	IARS2	TEAD1	C4A	SMAD2	CHMP4B	IGF1R	MT-TL1	KRT71	TCF4	GDF3	PHF6	CRYBB2	WNT10B	TFE3	SALL1	SNORD115-1	DLL4	SLC29A3	CDH23	TMEM138	MYLK	HEY2	XRCC2	MT-TK	SETD1A	ST14	RNASEH2A	PYCR1	RPS6KA3	PORCN	PRPF31	SLC16A12	LRP4	EXOSC2	CANT1	MT-TW	PIGG	SOX2	RIPK4	ETFDH	IFT140	CTCF	PPP1R17	NUP188	ANTXR1	PLCG2	TBX22	RPS28	PRKCZ	HNRNPA2B1	CPLANE1	CTDP1	MMP1	RPL35	DSG4	FKRP	RS1	FANCB	TNPO2	FKBP14	WAS	EDEM3	ADGRV1	UBAC2	ADAMTSL1	FAM161A	INPP5K	HIRA	PALB2	PLK4	CRYBB1	APOA1	AP1B1	HPS1	GJB3	FANCG	FDXR	PTPN2	RPGRIP1L	RDH12	BLOC1S3	PDPN	NOTCH1	CCR1	GLRB	SEC24C	CLDN19	PSMC3	NHP2	GJA8	TRIM37	COL9A3	SNRNP200	TMEM231	ANKRD17	ARSG	B9D2	APC2	SATB1	RSPO2	ZNF423	PANK4	WHRN	NMNAT1	GNB5	RHO	DLX5	TDGF1	IL2RB	OCLN	KITLG	SLX4	MAFA	MORC2	DNAJC21	PIGY	COLEC11	COL4A3	TRPV4	HSF4	RNF2	GJB6	SF3B1	MAN2B1	HTRA2	MIR140	UBE2A	MSH6	ELMO2	SHROOM4	ARHGEF2	CCDC22	SVBP	ZNF513	MED13L	FOXL2	PEX2	FGF3	PAX2	GEMIN4	MBD5	WASF1	SLC35C1	KCNA4	USH1G	ALG11	MT-TS2	MAP3K7	NIPAL4	TINF2	SDHA	RPS29	EPG5	HLA-A	RREB1	SIX6	MOCS1	SH3PXD2B	PCSK9	HNRNPDL	PCYT1A	CHD3	TGFBR1	COMT	MYO1H	BBIP1	TRMT1	RAD51	DNM1L	KIDINS220	NEK2	NCF1	SLC25A11	DOCK3	SLC24A5	YY1	FYCO1	NELFA	POLR1C	KRT74	RPL18	MMP2	GNPTG	ZMPSTE24	DNAI1	ACTL6B	JAM3	FANCL	DPYSL5	NACC1	ALOX12B	CHD4	KCNMA1	MTX2	ABCA4	BCL7B	AMACR	WAC	KCNN3	BPTF	SIX3	SPATA7	TBC1D7	HPS5	POMGNT2	HMGB3	KIAA0586	USH2A	BRF1	EDN3	EHMT1	WFS1	IKBKG	PDGFRB	DMPK	DDR2	USB1	CLN3	SLC12A2	MIP	RFC2	PDE6G	LDHD	UBR7	UBIAD1	COL1A1	ZIC2	GRIA4	MCOLN1	POU6F2	XYLT2	VPS13B	SCAPER	KRT14	RLBP1	REV3L	TCTN1	DTNBP1	FLII	CFAP410	ARHGEF18	ADA2	PMP22	PDE6B	BUB1	ZFHX4	DGUOK	NTNG1	IL2RA	PNPLA1	EPHX2	CNOT3	MYSM1	CHRDL1	MARK3	GP1BB	SNORD116-1	HLA-DRB1	PQBP1	AMMECR1	EOGT	SRY	SPTLC1	TYRP1	RRM2B	MT-TV	PSMD12	MED13	LIMK1	CLCN3	RPS17	RPS7	MPZ	RXYLT1	PIBF1	AHR	KAT6A	KDM5B	RNF125	MINPP1	RPS27	NSD1	HPS6	MIR204	MEFV	SETD2	GNPAT	MADD	CD247	LIPH	LAMC2	PALS1	XPR1	MYMK	PTH1R	STXBP1	SPRED1	GLB1	IDH3A	MFRP	BUB3	TBL2	LAMB2	PWAR1	PARN	TOPORS	MAFB	RIC1	TUBB2B	FANCM	CHUK	LOX	MT-CO2	TMEM270	PPP2CA	PXDN	NCAPG2	IL10	INVS	DYNC2I2	HTT	RD3	UBA5	B3GAT3	GPC3	ADAMTS18	MAK	TWIST1	CERS3	RPGR	RNF113A	CASZ1	POLR1B	CNGA1	UNC45B	LMBRD2	RPL26	USH1C	CEP78	HNRNPA1	RAX	P4HTM	CLDN16	RHOA	ARMC9	KMT2D	SPINT2	PWRN1	TBR1	PRDM12	POLR3A	CDH11	PIEZO2	WRAP53	NEUROD2	HUWE1	ALDOB	TRAF3IP1	RBPJ	JAM2	TRAPPC4	MT-ND1	PDZD7	DLX6	SLC38A8
HP_INCREASED_SKULL_OSSIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_SKULL_OSSIFICATION	OSTM1	SGSH	VCP	NAGLU	HGSNAT	HHAT
HP_DECREASED_SKULL_OSSIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SKULL_OSSIFICATION	TRIP11	FGFR2	INTU	PPIB	SLC25A24	SEC23A	SLC25A19	HDAC6	ZMPSTE24	LMNA	COL2A1	TAPT1	FIG4	FAM111A	LBR	ALX4	COL1A1	EXT2	ALPL	COL1A2	NOTCH2	WNT7A	P3H1	MPL	ALG9	PHF21A	TBCE	THPO	CRTAP	RUNX2	IFT43	ANTXR1	VAC14
HP_ABNORMAL_LYMPHOCYTE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LYMPHOCYTE_MORPHOLOGY	FASLG	RAG1	TERC	CTLA4	LCK	IL7R	TNFAIP3	WAS	STING1	REL	GFI1	SKIV2L	CD8A	RIPK1	RAG2	XRCC4	PIK3CD	CD19	JAK3	TINF2	LEPR	TET2	PRKCD	PIK3R1	ZBTB24	TNFRSF13B	SMARCAL1	BTNL2	PNP	TERT	RAC2	ELANE	AK2	PGM3	ALG12	PTPRC	TTI2	SPP1	CD3E	ARPC1B	CD28	CD3D	RRAS2	NFKB2	IKZF3	EIF2AK3	BACH2	XIAP	CASP10	USP8	CHD7	CD247	STAT1	NEU1	UNC119	TNFSF12	IRAK1	NRAS	FOXN1	DEF6	IRF2BP2	CASP8	PTEN	CORO1A	SEMA3E	NSMCE3	BCL11B	CIITA	MDM4	DOCK8	NFKB1	CDH23	SGPL1	LEP	SAMD9	RMRP	TNFRSF1B	TRNT1	KNSTRN	MYD88	MSN	IKZF1	SRP54	RNASEH2B	PSMB4	LCP2	IL6R	CD70	IGHM	SLC17A5	TTC37	FUCA1	AGA	MGAT2	HYOU1	ADA	CDCA7	LMNB2	LRBA	TCIRG1	SP110	CARD11	MYC	ITK	ICOS	EXTL3	NHEJ1	G6PC3	IL7	DCLRE1C	CD3G	IL21	FAS	IL2RG	CLN3	MAN2B1	FAT4	RASGRP1	DNMT3B	ACP5	MAGT1	DOCK2	KRAS	NLRC4	TCN2	MTHFD1	ADAMTS3	PSMB9	BCL10	OTULIN	MS4A1	TPP2	PNPLA2	CR2	RFX5	RFXANK	NCKAP1L	IL2RA	HELLS	ATM	TCF3	BLM	AP3B1	WIPF1	CD81	TOM1	CD4	GLB1	RFXAP	MCM10	FOXP3	STAT4	SH2D1A	SYK	TFR2	CYBC1	CTPS1	NBN	TNFRSF13C	ZAP70	BTK	CCBE1	LAT	LYST	FCHO1	KLHDC8B	STK4	SOCS1	CXCR4	FCGR3A	MYSM1	WDR1	ATP6AP2	EPG5	HLA-DPB1	LIG4	TBX2	IVNS1ABP	GATA2	IKBKB	MCM4	ADA2	HLA-DRB1
HP_BONE_MARROW_FOAM_CELLS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BONE_MARROW_FOAM_CELLS	NPC1	NEU1	SMPD1	LIPA	NPC2
HP_DERMAL_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DERMAL_ATROPHY	TP53	COL7A1	COL5A1	COL12A1	TERC	PLOD1	SPEN	B3GALT6	RTEL1	PLEC	LRP1	TINF2	TP63	DDB2	ENPP1	ERCC3	PDE8B	RECQL4	KRT5	TERT	LAMA3	ITGA6	GSN	COL5A2	TFAP2A	ZMPSTE24	LAMC2	HCCS	LAMB3	COL1A1	MMP1	DLG4	ERCC5	COL3A1	USP8	ERCC6	CHST14	TGFBR2	FKBP14	KRT14	COL1A2	CUL4B	ANAPC1	COL6A2	COL6A3	CTSC	LMNA	SMAD3	PRKAR1A	PDE11A	XPA	MGP	ABCC6	B4GALT7	PARN	DKC1	POLH	CDH23	AEBP1	ERCC4	ITGB4	MTX2	FERMT1	DST	KLHL24	COPB1	ERCC2	DHCR24	TGFBR1	DSE	XPC	COL17A1	FBN1	AIP	TGFB2	SLC39A13	PRKACA	ADA2	POLD1	COX7B	SOX18	ARMC5	LEMD3	COL6A1	GNAS	ACD	C1R	PORCN	NDUFB11	C1S	CARMIL2	TWIST2
HP_MYELIN_OUTFOLDINGS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYELIN_OUTFOLDINGS	MPZ	NEFL	SOX10	SBF2	PMP22
HP_ABNORMALITY_OF_AMINO_ACID_METABOLISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_AMINO_ACID_METABOLISM	ERCC3	ERCC4	CBS	TAT	ERCC5	AGA	SLC30A10	ERCC2
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	KYNU	HPD	TAT	SLC25A13	PTS	PAH	FAH	SPR	PNPO	PCBD1	FTCD
HP_ABNORMAL_CIRCULATING_SULFUR_AMINO_ACID_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_SULFUR_AMINO_ACID_CONCENTRATION	AASS	LMBRD1	MAT1A	PRDX1	MTR	SLC25A13	MTHFR	TTC37	CBS	ABCD4	MTRR	SLC19A1	AHCY	MMADHC	ADK	MMACHC	GNMT	FAH
HP_ABNORMALITY_OF_VITAMIN_B_METABOLISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_VITAMIN_B_METABOLISM	SUCLA2	FASLG	PRDX1	MTR	ABCD1	HLA-DQA1	FAS	ABCD4	SLC19A1	CCND1	SLC52A1	DLAT	AMN	OTUD5	FTCD	MMAA	RNF13	PRKCD	CUBN	HCFC1	CASP10	MCEE	LMBRD1	ACSF3	RASGRP1	ALDH4A1	SPTBN1	TTR	SIM1	MMAB	GRM7	MMADHC	SUCLG1	MMACHC	CBLIF	MTRR	MMUT	ZNF699	GUCY2C	MTHFD1	HLA-DQB1
HP_ABNORMALITY_OF_VITAMIN_B12_METABOLISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_VITAMIN_B12_METABOLISM	SUCLA2	FASLG	PRDX1	MTR	ABCD1	HLA-DQA1	FAS	ABCD4	SLC19A1	CCND1	AMN	MMAA	RNF13	PRKCD	CUBN	HCFC1	CASP10	MCEE	LMBRD1	ACSF3	RASGRP1	MMAB	GRM7	MMADHC	SUCLG1	MMACHC	CBLIF	MTRR	MMUT	GUCY2C	MTHFD1	HLA-DQB1
HP_ABNORMAL_GLYCOSPHINGOLIPID_METABOLISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GLYCOSPHINGOLIPID_METABOLISM	PSAP	ARSA	MCOLN1	HEXA	HEXB	GLA	GM2A
HP_WEAKNESS_OF_MUSCLES_OF_RESPIRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WEAKNESS_OF_MUSCLES_OF_RESPIRATION	ERGIC1	GABRA3	COL12A1	TTN	TARDBP	TPM2	POLG	MYO9A	AGRN	NEB	BIN1	CHRNE	DNM2	TMEM43	CCDC174	GIPC1	HMBS	COL6A1	RYR1	LMNA	YARS2	DES	COL6A2	VAMP1	SLC25A4	COA8	CHAT	MYPN	CACNA1S	LRP12	MPZ	KBTBD13	SYT2	SUCLA2	MORC2	SLC25A1	RNASEH1	MT-TL2	MT-TN	TPI1	SLC5A7	HNRNPA2B1	TRIP4	ACTA1	SCN4A	SELENON	MYF6	ORAI1	ERBB4	SLC18A3	CRYAB	TPM3	SYNE2	VCP	SNAP25	BICD2	MTMR14	ASAH1	COL13A1	PAX7	EMD	COL6A3	MYL1	ACOX1	TNPO3	POMK	HNRNPA1	GLE1	GAA	ITGA7	MFN2	GFPT1	KLHL41	UBA1	FHL1	ALAD	MATR3	COLQ	KCNJ18	HACD1	SURF1	PLEKHG5	CFL2	CHRNA1	RRM2B	NOTCH2NLC	CNTN1	MYOT	MYH7	SYNE1	TK2	LMOD3	SPG11	LAMA2	MYL2	DOK7	MAP3K20	CPOX	KCNE3	MGME1	MT-TL1	AIFM1	TNNT1	DYM	PPOX
HP_ABNORMALITY_OF_BONE_MINERAL_DENSITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_BONE_MINERAL_DENSITY	ELN	FAM111A	OFD1	TBCE	EED	CDKN2B	NDN	MGAT2	DPM2	FAH	HRAS	TCIRG1	FANCC	SNRPN	HSPG2	PDE8B	DCAF17	FBN2	EIF4H	CYP27A1	UNC45A	RUNX2	TGFB1	ERCC3	FANCF	ERCC4	TTC26	FANCD2	MALT1	LIFR	KRAS	TWNK	LMNA	CTSK	RSPRY1	BMS1	IL12A	PYGL	LRP5	CTC1	SLC39A13	RPL10	PHKB	DMP1	LRP6	GORAB	WT1	FGFR1	NHP2	POLG	ATP6V0A4	MITF	ATP7A	RNU7-1	CHST3	GNRHR	HPGD	HSD3B7	IL12RB1	CLCN5	B4GALT7	NLRP3	SMARCAL1	STAT3	CASR	CDH23	AEBP1	CPLX1	POLR1D	EHHADH	MAD2L2	FANCA	ALG3	HS6ST1	SKI	TONSL	KNSTRN	ELANE	LAMB3	TJP2	SGSH	SRP54	FAM20C	SLC34A3	NDUFAF1	GJA1	LEMD3	RTEL1	IL1RN	FLNA	PRKACA	DUSP6	NSMF	UROS	MAGEL2	PSMC3IP	ARMC5	TARS1	POLG2	SMS	WDR35	SEMA5A	CTNNB1	PLOD2	ESR1	FGF8	METTL27	NPR2	SLCO2A1	NPAP1	SOX10	TGFBR2	CYP17A1	HBB	POU2AF1	OCA2	GATM	PLOD1	ENPP1	PIK3CD	SLC12A1	ZFPM2	GALNS	DCC	GNAS	TENT5A	GBA	SPARC	AP2S1	NGLY1	LHX4	FARSB	CDC73	FGF23	MC4R	COL1A1	BMP1	SIK3	TERT	FKBP6	GCM2	PCCB	SOST	IRF5	GLIS3	RETREG1	ATP8B1	ERCC6	WWOX	BUD23	TERC	ANAPC1	NPHP3	ZNF469	PMM2	FANCE	DNAJC30	COL1A2	SLC34A1	WDR19	SNX10	CYP11A1	TSPAN12	CCND1	VPS37D	POC1A	SATB2	TAPT1	IARS2	SDCCAG8	PTDSS1	CBS	PIGT	SLC26A2	EIF2AK3	SNORD115-1	PIGU	KISS1	ANTXR2	LMX1B	CYB5A	PROK2	PTEN	MMP14	IFIH1	TAF1	PRDM5	XRCC2	HNRNPK	STX16	GLA	ANO5	PYCR1	ADCY10	BRCA1	SERPINH1	OCRL	IQCB1	TNFRSF11A	CANT1	AKR1D1	PIGG	EFL1	BMP15	ALDH18A1	GFI1	IFT122	FGF17	G6PC1	ASAH1	PEX12	CTCF	AIFM1	CEP164	DDOST	LAMA3	OSTM1	STX3	DCHS1	AMER1	ZMPSTE24	CTDP1	CTNS	GPAA1	MAFB	SEMA3E	ABCC9	FKBP14	WDR11	SMPD1	VDR	SEC24D	RAB3GAP1	HLA-DQA1	MDM4	SLC37A4	CRIPT	PALB2	ERCC8	ALPL	SLC10A1	NPM1	COG1	SLC39A14	CLCN7	FANCG	AIP	NF1	GNA11	SETBP1	PHKA2	HGSNAT	TNFRSF11B	TBXAS1	NUP107	PDGFRB	NAB2	FSHR	ERCC2	TET2	MRPS22	SRY	TRPV6	IGF1	CEP290	RTL1	AFF3	RUNX1	HSD17B4	PROP1	AVP	MAP3K1	B3GALT6	SQSTM1	PRLR	FKBP10	NR5A1	TRIP11	SLX4	RECQL4	ANKH	EXT2	ASXL1	DNAJC21	PIGY	ASXL2	CDKN1B	POU1F1	BAZ1B	MEG3	DLL4	HGD	MAN2B1	SLC4A1	EBP	NOTCH2	MIR140	LBR	CRTAP	HTRA1	SYK	ATP6V0A2	FLRT3	PDE11A	PLEKHM1	TRAPPC2	WNK1	DMRT3	CBL	SEC23A	NOP10	KCNJ8	HERC2	UBE2T	SCN9A	UNC80	GPR35	FBLN5	GEMIN4	SLC35A2	TNFSF15	HLA-DQB1	COL2A1	CTNND2	MAP3K7	RFWD3	TINF2	RPL11	CA2	CDKN2C	SLC7A7	CLIP2	SH3PXD2B	COX4I2	GTF2IRD1	RNU4ATAC	ADAMTSL2	TNPO3	WNT1	POF1B	DKC1	RAD51	BRAF	SFRP4	LPIN2	GTF2I	NCF1	MMP13	TCF4	NELFA	MED12	CDKN1A	POLR1C	MPLKIP	MMP2	LETM1	NDNF	CHD7	USP8	GTF2E2	NFIX	STAT1	GALT	SLC29A3	FANCL	COL5A2	VCP	SMAD3	PHKG2	TBCK	NAGLU	FUT8	BNC1	PLEC	BCL7B	NPHP4	MKRN3	OTX2	SLC17A5	NPHP1	SLC25A4	POLD1	KIF1A	CCN6	IFITM5	MAP2K1	CYP3A4	SBDS	VPS53	ATP7B	FZD4	FANCB	FAT4	ARL6IP6	ZNF408	FANCI	PLS3	SCARB2	AGXT	MBTPS2	TACR3	PDLIM4	VAMP7	SPIDR	DDRGK1	PSAP	NR0B1	USB1	RFC2	SMARCD2	PROKR2	TREM2	SRC	FERMT3	SLC2A2	IRX5	KCNJ1	KL	SPIB	HFE	ABCC6	XYLT2	PTH1R	PHEX	CYP2R1	CCDC141	CTBP1	RAD51C	TCOF1	KISS1R	STAT6	DLX3	PRKAR1A	TMEM67	BMP2	PAPPA2	UROD	PLOD3	MEN1	CALCR	PCCA	SRSF2	ADAMTS2	HHAT	HAMP	DHCR24	FN1	DKK1	PEPD	MTTP	TAC3	DLK1	BRCA2	SNORD116-1	RIN2	MLXIPL	LRP4	RRM2B	SOX9	LIMK1	SPRY4	SLC39A8	GNPTAB	MMEL1	HMGA2	IER3IP1	ITGB4	NRAS	LARS2	HJV	STN1	FEZF1	SGMS2	CSF1R	NSD2	WRN	FOXA2	TRPS1	RNF125	TMEM38B	DPAGT1	HESX1	ZNF699	SC5D	NOTCH3	GNPAT	SEMA3A	LAMC2	FBN1	SP7	MIA3	NAGA	TNFSF11	IL17RD	GTF2H5	SLC34A2	TMEM165	ANOS1	GLB1	WNT3A	TBL2	PWAR1	PARN	IFT43	FANCM	LRRK1	MTRR	GK	CYP27B1	SLC9A3R1	POLE	GATA4	TMEM270	CAVIN1	BRIP1	POLR3H	ACP5	SEMA4D	P3H1	HNF4A	INVS	HECW2	B3GAT3	ZBTB20	SIM1	NDUFAF6	STX1A	ALB	P4HB	GZF1	MMP1	RNF113A	TYROBP	POLR1B	COL7A1	KDELR2	BAAT	USP9X	GNRH1	UFSP2	GTF2IRD2	ESR2	GLI2	MTX2	SLC25A19	NDP	TRMT10A	SOX3	BANF1	MST1	IFT52	PWRN1	COL5A1	POLR3A	FGFR2	GATA1	DHX37	WRAP53	CREB3L1	CYP19A1	LEMD2	TRAF3IP1	MTAP	KIT
HP_ABNORMAL_CIRCULATING_CARBOXYLIC_ACID_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_CARBOXYLIC_ACID_CONCENTRATION	AKR1D1	PRODH	TNPO3	UGT1A1	PKLR	EFL1	HPD	SLCO1B3	MRM2	SLC25A4	LBR	SLC25A13	POMC	TMEM67	ASL	ABCD4	ABCC2	PDHA1	ETFDH	SLC4A1	PRKCSH	FAH	TSHB	RHAG	PFKM	MT-ND3	G6PD	MCEE	QDPR	PET117	L2HGDH	KYNU	BCKDHA	OSTM1	MMADHC	KIF23	SUCLG1	PEX19	MED12	MMEL1	SPTB	UNC45A	PIEZO1	DZIP1L	LIG3	SLC51A	TALDO1	SLCO1B1	PNPO	MCCC2	MTHFR	SUCLA2	TTC26	NR1H4	GCH1	COX5A	ATP8B1	FH	IRF6	ALDOB	PCK1	MCCC1	COX16	HFE	NDUFB10	EIF2AK3	HAL	IL12A	SEC63	CPS1	NADK2	PRF1	ADK	SPTA1	TG	PAH	GLYCTK	ZNF699	AASS	ARG1	RFX6	SLC35A2	MTR	PAX8	TAT	HSD3B7	PSAT1	GLRX5	SC5D	IL12RB1	ABCD3	DBT	COQ9	DLD	PGK1	SLC10A1	WDR35	VIPAS39	GCDH	APP	CA5A	SPTBN1	KARS1	PSPH	TJP2	IYD	PDP1	MMACHC	MTRR	DMGDH	SLC6A3	ALDH4A1	LRP5	SLC17A5	UROS	KLF1	AMT	BCKDHB	TNFRSF11B	OTC	PKHD1	DUOXA2	TRMU	SBDS	DNAJC21	HK1	TYMP	SLC2A1	TRMT10C	ASS1	MT-TW	GSR	NOS3	GLDC	PIGA	POU2AF1	DCDC2	SPR	GCSH	MT-ND1	MT-TL1	PDHX	MRPL3	VPS33B	CTH	EPB42	ABCB4	NDUFA13	MIPEP	FBXL4	CYP7B1	HCFC1	COX6B1	PCBD1	LMBRD1	NAGS	LIPT2	FBP1	KCNN4	LIPT1	MICOS13	CPOX	FARSB	PC	GUCY2D	GYPC	PTS	SCO1	PHGDH	CPT2	PRDX1	TSHR	PAFAH1B1	NDUFS4	SLC30A10	SLC25A15	PCCB	DGUOK	IRF5	SRP54	SPIB	AHCY	ABCB11	MT-TK	FTCD	ETFB	ACSF3	RRM2B	MICU1	ANK1	BAAT	TMEM126B	PLAU	MPO	NFS1	UBE2A	TMEM70	MT-TV	MT-ATP6	ATP5F1A	MAT1A	COX8A	POLG	GPX1	SLC19A1	PNPLA8	GALT	OAT	DUOX2	MT-ND2	PCCA	RHD	MMAA	RHCE	GLUL	FDFT1	IDH2	MT-ND4	TPO	CBS	MMAB	UROC1	TNFSF15	MMUT	MT-ND6	MTTP	BCKDK	TTC37	GATA1	ASPA	SLC51B	HBB	GNMT	ALDH5A1	AMACR	MT-ND5	SLC5A5	COX10	MDH1	ODC1	SLC7A7	ETFA	UQCRC2	NDUFC2	POLG2	MTO1	SUGCT	KIF12	IGF1	DNAJC19	SARDH	EPB41	CASK	BCAT2
HP_ABNORMALITY_OF_LYSOSOMAL_METABOLISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_LYSOSOMAL_METABOLISM	CA2	CLN8	GNPTAB	CTSD	DNAJC5	CLN6	TNFRSF11B	PSAP	CLCN7	ASAH1	OCRL
HP_ABNORMAL_CIRCULATING_FATTY_ACID_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_FATTY_ACID_CONCENTRATION	ACAD8	SLC22A5	ABCD1	ACADM	HADHB	LTC4S	PHYH	SLC12A1	DLD	PEX1	PEX11B	PEX14	EHHADH	HNF1A	SLC34A1	ACADVL	PEX10	PEX3	PLA2G4A	PEX12	ABCC8	PEX19	TANGO2	LMBRD1	MMACHC	SCO1	HADHA	CTNS	PEX26	CPT2	PEX7	HSD17B4	COL7A1	KCNJ11	PEX13	UCP2	PEX2	KCNJ1	COX16	PEX5	SLC25A20	SLC52A1	MMP1	NDUFAF6	PEX6	ACAD9	HNF4A	MT-TE	GLYCTK	NADK2	HMGCL	HADH	ACADS	GATM	PEX16	TRMU
HP_ABNORMALITY_OF_ACID_BASE_HOMEOSTASIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_ACID_BASE_HOMEOSTASIS	HSD17B10	NAXE	SLC25A4	MPV17	UQCRFS1	NDUFA13	PDHA1	FAH	MT-ND3	PREPL	NDUFV1	MT-ND5	YARS2	OGDH	L2HGDH	KYNU	CTNS	MRPS34	SQOR	BCKDHA	SUCLG1	AGK	ACAT1	NDUFA10	NDUFS7	SUCLA2	TTC26	COX5A	C1QBP	FH	NDUFS2	MT-TL2	MT-TN	TAFAZZIN	LIAS	TWNK	MT-TH	MT-TK	SCNN1A	MTRFR	NDUFS6	FOXRED1	SURF1	PYGL	PHKB	DLD	MT-CO1	NDUFAF1	MT-TP	MT-TI	MARS1	MT-ND1	DEF6	CLCNKB	POLG	ACADVL	ATP6V0A4	NDUFAF3	NDUFS1	HPD	SERAC1	PAH	ACADS	GLYCTK	PLAGL1	PHKG2	NADK2	FDX2	TSFM	LRPPRC	DPYS	TIMM50	HYMAI	CA2	SLC5A1	DBT	COQ9	TXN2	COX6A2	NDUFS8	WDR35	EHHADH	SDHD	SLC25A3	DARS2	MT-TF	GCDH	NDUFS4	PDHB	OXCT1	SLC3A1	TRNT1	NEUROG3	CA5A	PET100	TKFC	LYRM7	IBA57	KARS1	PUS1	MT-ND6	USP8	SLC25A19	MDH2	PDP1	MMACHC	NDUFB10	RMND1	SLC26A3	ITPR3	UQCC2	PPM1B	ACSF3	BTD	HNF1B	MT-CO2	POLG2	GFER	DNM1L	OTC	MRPL12	JAG1	TRMT5	GTPBP3	MT-TL1	TIMMDC1	TRMT10C	KCNJ11	ALDH6A1	TANGO2	INS	MT-TW	NDUFB8	CPT2	CLCNKA	HMGCL	RYR1	HADH	UQCC3	GATM	FASTKD2	SCO2	EPG5	ETHE1	AGXT	HSD11B2	MT-TT	PDHX	MRPL3	HADHB	VPS33B	GFM2	COX14	NDUFV2	AUH	SLC12A1	NDUFB9	MIPEP	NDUFA4	NDUFAF4	SLC34A1	IVD	LIPT2	FBP1	MT-TC	LIPT1	MICOS13	LCT	NDUFA9	ATAD3A	CYC1	PDSS2	PRDX1	CARS2	NDUFAF2	INVS	SLC2A2	CLPB	SYNJ1	ISCA1	PCCB	KCNJ1	DGUOK	TARS2	HIBCH	CPT1A	NR3C1	ETFB	RRM2B	USP18	GOT2	NFS1	NDUFA12	CYP11A1	MT-CYB	KCNJ10	MRPS28	ELAC2	PPA2	GFM1	PLPBP	SLC25A42	PMPCA	SCNN1G	HLCS	NDUFA1	PCCA	FN1	RNASEH1	MMAA	AIFM1	RARS1	COA6	MMAB	CACNA1S	SDHB	BSND	MECP2	SCNN1B	NFU1	NDUFA2	ECHS1	TUFM	CACNA1D	YARS1	NDUFAF6	COQ8A	ETFA	UQCRC2	MT-ND4	BCS1L	CHCHD10	COX4I1	SLC19A3	COX15	LARS2	FARS2	OCRL	ADAMTS13	PNPO	CYP17A1	CAD	NDUFB3	MRM2	SLC25A13	ASL	ABCD4	NDUFAF5	ETFDH	LYRM4	G6PC1	MCEE	PET117	BOLA3	MT-TV	PNPT1	RARS2	SLC4A4	MMADHC	CAMKMT	TYMP	UQCRQ	DLAT	HADHA	LIG3	QRSL1	GATA3	INSR	STX3	WARS2	ALDOB	SDHA	PCK1	COX16	EIF2AK3	CYP27A1	SOD1	ATP5F1E	SHOX	NDUFAF8	HPDL	TK2	WNK1	MCCC2	TACO1	MT-ND2	SARS2	ABCC8	SLC12A3	KLHL3	SLC37A4	SLC25A26	NOTCH2	LDHA	PITRM1	VIPAS39	SLC4A1	MCCC1	ATP6V1B1	AIP	HLA-B	MT-CO3	ACADM	SLC7A7	MRPL44	PHKA2	PMPCB	TMEM126B	COQ2	BCKDHB	HS6ST2	TRMU	NDUFA6	LONP1	ACAD9	ASS1	MT-TE	LARS1	NDUFB11	ZFP57	ALDH7A1	SLC16A1	PIGA	TIMM22	KCNJ5	GATB	NDUFS3	GK	PTPN22	FBXL4	WNK4	HCFC1	COX6B1	IKZF1	LMBRD1	KCNJ16	COA8	PC	MT-TS2	SCO1	CLCN2	MRPS14	SLC25A10	GATC	CUL3	GSS	SLC52A1	SFXN4	MPC1	MTFMT	HTRA2	HNF1A	TMEM70	UQCRB	ITGA3	MT-ATP6	NGLY1	NR3C2	COX8A	CLDN16	NDUFA11	PAX4	SLC13A5	COQ4	PNPLA8	GALT	PLVAP	TAOK1	MRPS22	IDH2	MRPS16	ACAT2	COX20	AARS2	MMUT	NDUFA8	SLC25A15	TPK1	MYO5B	EARS2	MT-TQ	IL6	COX10	ATP5F1D	ISCU	HNF4A	NDUFC2	ATPAF2	MTO1	SUGCT	CPS1	PDSS1	MRPS7	DNAJC19	NUBPL	GYS2	NARS2	MLYCD
HP_ABNORMALITY_OF_CIRCULATING_LEPTIN_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CIRCULATING_LEPTIN_LEVEL	LMNA	BANF1	LEP	ZMPSTE24	LIPE	BSCL2	CIDEC	AKT2	LEPR	AGPAT2	MECP2
HP_ABNORMAL_CIRCULATING_NITROGEN_COMPOUND_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_NITROGEN_COMPOUND_CONCENTRATION	CAD	ALMS1	GANAB	RINT1	PRPS1	MRM2	SLC22A5	UMOD	SLC25A13	HSD17B10	ARG1	ACADM	HADHB	MYC	ASL	PCCA	HPRT1	SLC41A1	PKD2	PFKM	GPHN	G6PC1	COX6B1	PCBD1	SLC34A1	TNFRSF11B	NR1H4	CFHR1	CTNS	NAGS	CD46	FBP1	SLC22A12	SLC37A4	NT5E	PNP	HNF4A	HADHA	ACAT1	CYC1	CORIN	MCCC2	TTC26	CPT2	INVS	SLC2A2	SLC25A15	PCCB	ALDOB	FLT1	MCCC1	ALG9	SLC25A20	MOCOS	CPT1A	EIF2AK3	MCFD2	CPS1	MARS1	GOT2	C3	WDR19	REN	ACADVL	SH2B1	TREX1	TMEM70	HMGCL	SERAC1	LMAN1	THBD	CFHR3	CC2D2A	AASS	BICC1	SEC61A1	SARS2	CLDN16	GLUD1	PPARG	MMUT	SLC25A42	BTD	CFB	HLCS	CCND1	DLD	MMAA	TNFRSF11A	ELP1	EHHADH	GLUL	XDH	PDHB	AVPR2	CA5A	OCRL	STOX1	MMAB	ERCC8	COL4A3	DBH	SLC2A9	TANGO2	MOCS2	COQ7	CFI	DNAJB11	MMACHC	MECP2	SLC7A7	TMEM260	FAN1	HNF1B	ERCC6	HBB	NBAS	OTC	TUFM	NDUFAF6	NDUFA6	ATP5F1D	ACAD9	ASS1	ERCC4	GALNT2	UQCRC2	MOCS1	MUC1	ATPAF2	CFH	HADH	PIGA	PKD1	GATM	ZPR1	ADAMTS13
HP_ABNORMALITY_OF_TEMPERATURE_REGULATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_TEMPERATURE_REGULATION	IFNGR1	NPHS1	UBE3A	IL12A-AS1	EDARADD	IL7R	ACADSB	IL12A	BIN1	MYO1H	REL	PRNP	UQCRFS1	NDN	RAG2	LPIN2	NLRP3	SHH	MT-ND3	HBB	G6PD	RYR1	CTLA4	AK2	HSPG2	TGIF1	PTPN3	ATXN3	SCN9A	CYP21A2	SUCLG1	TCF3	TCF4	PSMB10	ACAT1	ELANE	HLA-B	CPT2	ATM	RAG1	LIFR	WT1	PTPN22	ERAP1	MT-TH	SPP1	PAX2	MYF6	CDON	CD3D	FOXH1	CHRNG	ATP13A2	FGF8	TRAF3	FGFR1	MTHFR	MT-CO1	SLC29A3	NABP1	DIS3L2	NLRC4	MT-ND1	DEF6	RIPK1	PRF1	ACADVL	NTRK1	MLX	SPTA1	RNASEH2C	STAT4	POGLUT1	TG	ATP7A	BCR	IFIH1	TDGF1	SH3KBP1	TBCK	KIF1B	MVK	TRIM28	EDA	LRRC8A	IGHM	ABCA12	UNC93B1	CALR	NALCN	SHANK3	STX11	STIL	MT-TF	GALC	NFKBIL1	TRNT1	VPS11	TRAF6	IBA57	HLA-DPA1	SIX3	SPTBN1	CHEK2	LAMB3	IYD	SRP54	NUP37	MMACHC	MKRN3	JAK2	ATP1A2	BIRC3	NFKBIA	IL6	MIF	PTCH1	KRT14	TH	ZIC2	MT-CO2	TSPOAP1	PLCE1	MEFV	POU1F1	DISP1	MT-TL1	SCN10A	SCNN1B	NPAP1	IGLL1	MT-TW	CIITA	HMGCL	TLR3	STIM1	UBA1	NCF4	GATA2	MYD88	NUP160	SCNN1G	BCL6	GAPVD1	EIF2B1	LACC1	EIF2B4	DNM2	BCOR	DBH	GABRA2	SLC12A1	CD2AP	BCL2	SLC41A1	ADAR	REST	H19	LIPA	SNRPN	TLR4	XIAP	PRKAR1A	IL17RA	MICOS13	HLA-DRB1	EMP2	HAVCR2	MAGI2	GYPC	PTS	SLC4A1	EIF2B5	TET2	TNFRSF1A	PTPN2	PML	OCA2	KRT18	TSHR	POMP	KCNJ1	ERCC5	POU6F2	STAC3	MT-TK	DUOX2	GAS1	MAGEL2	KDF1	SPINK1	TRIP13	ALG11	GCH1	PMM2	MYH3	IL12B	MBTPS2	MCM10	SPTB	CHRND	STAT6	DLL1	BRCA1	NLRP1	CLCF1	SLC5A1	CYBC1	SNX10	BRCA2	MADD	NODAL	DST	IFNG	NLRP12	ABL1	CRLF1	ELP1	C4A	SRSF2	PRTN3	LYST	COA6	CR2	EDAR	LDHA	ANKRD55	ERCC8	IL2RA	CACNA1S	UNC13D	AVPR2	SNORD115-1	MT-ND6	HLA-DPB1	BTK	IL2RG	ZNFX1	NPM1	ERCC6	FIP1L1	ANK1	ARHGAP24	PEX6	CHRNA1	IL2RB	IL23R	HNRNPK	LIG4	CLDN10	GLA	F5	MT-ND4	RNASEH2A	SNORD116-1	ADA2	COG6	C2orf69	ADAMTS13	CASK	AVP	TNFAIP3	MPL	STING1	TBC1D8B	TSPYL1	GFI1	ABCC2	IRF4	STAT3	CFTR	TSHB	ASAH1	CD79A	QDPR	TICAM1	COL1A1	LBR	ABCC6	CFHR1	MT-CYB	SLC19A3	STAG2	CLEC7A	BTNL2	LAMA3	PSAP	BLNK	POFUT1	PSMB8	NUP85	PROP1	PSTPIP1	IRF8	TBX3	STAT5B	FBP1	RAB27A	TSC1	FOXP1	PSMG2	CYBB	SLC25A20	NUP107	EIF2AK3	IL10	BACH2	IL17RC	TP53	NCF2	MYO1E	CD247	GLI2	SCN5A	MTMR14	WAS	PHOX2B	IRAK1	COL4A3	ALPL	KRT8	IL17F	KRT5	MT-CO3	PSENEN	UBAC2	ZNF699	PLA2G6	EIF2B2	CD27	PAX8	RNASEH2B	XPA	KLHL7	HTR1A	LHX4	CD3E	VANGL2	LHX3	PGM1	LAMC2	FCGR3B	CLCN7	SMC1A	TRAPPC9	DDC	CLCN6	PTPRO	PSMB4	IL6R	CD70	NKX2-1	TSC2	TNFSF11	P4HA2	SLC34A2	CD244	CCR1	CYP11B2	TMEM165	PKHD1	DUOXA2	CRB2	ADA	ANLN	ERCC4	SLC12A3	NAB2	CTRC	TRAF3IP2	PWAR1	XPC	CFH	ZBTB16	TCIRG1	CD79B	CCND1	SAMHD1	PIK3R1	CACNA1A	NCF1	ITK	CYBA	HMBS	EPB42	PRSS1	DCLRE1C	DDB2	SCN4A	IKZF1	MAP2K2	RARA	STXBP2	NUP133	NECTIN4	ATP1A3	RANBP2	AQP2	SEMA4D	MT-TS2	RB1	SCNN1A	PMP22	STAT2	ALDOA	NUP93	ASXL1	PSMB9	SCN11A	GPC3	OTULIN	DGUOK	CHD7	ORAI1	SLC18A2	LPIN1	WIPF1	ARL3	RNF168	MT-ND5	LBX1	MT-TV	NGF	ENPP1	MT-ATP6	CFHR3	SYK	P4HTM	NGLY1	NPHS2	COQ8B	NUMA1	SLC25A19	MT-ND2	HERC2	SCYL1	NOD2	HESX1	PRKCD	SLC22A4	BCAP31	GPR35	MAP2K1	HEPHL1	APOL1	ERCC3	MST1	TPO	PWRN1	SLC11A1	TBL1XR1	ZFHX2	IL36RN	SLC35C1	GAA	NUP205	KLRC4	ITPR2	POLR3A	ACTN4	IRF2BP2	LMNB1	TREX1	WDR1	SPR	SH2B3	SLC5A5	ARHGDIA	TRPC6	ERCC2	EIF2B3	ANKFY1	PRSS2	RUNX1	INF2	TBK1	FAS	BCL10	RMRP	MT-TQ	COG7	EPB41	KIT	MALT1
HP_REDUCED_CONSCIOUSNESS_CONFUSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_CONSCIOUSNESS_CONFUSION	TNPO3	NDE1	IL12A-AS1	FKTN	NOTCH2NLC	ACADSB	NAXE	IL12A	YY1	BNC2	MT-TE	TRHR	CDKN2B	GATA1	POLR3K	SLC2A1	PDX1	PDHA1	TXNRD2	SHH	INS	NDUFV1	ERCC3	KYNU	MMADHC	CHRNE	TGIF1	SQOR	ZNHIT3	AGRN	MT-ND3	BCKDHA	GABRB2	ZNF365	CDKN1A	ACAT1	RPL18	BAP1	NDUFS7	MTHFR	TTC26	HLA-B	CPT2	NHLRC1	COX5A	GCK	ERAP1	TWNK	MT-TH	ISCA2	SMARCE1	SPP1	HTT	NDUFS6	CDON	RANBP2	FOXH1	NFKB2	MEN1	ERCC5	ATP13A2	FGF8	TRAF3	FGFR1	DLD	MT-CO1	NDUFAF1	TRAF7	MT-ND1	KCNQ1	GALT	CLCNKB	POLG	PRF1	ACADVL	MLX	NDUFAF3	STAT4	NDUFS1	TG	ACADS	TDGF1	PSAP	DPYS	GLUD1	PSEN1	IL12RB1	NAA10	DBT	CASR	NDUFS8	UNC93B1	CTNNB1	STIL	MT-TF	TOMM40	RPL27	CA5A	LYRM7	SIX3	ASPA	DNMT1	NOTCH3	NDUFS2	KCNE1	IYD	RPL35A	MMACHC	MTRR	RPS10	NDUFB10	ATP1A2	RPS26	RMND1	PTCH1	SLC25A4	CHRNB1	TH	ZIC2	BTD	MT-CO2	NAXD	POLG2	TBK1	AMT	SLC19A2	PLP1	TSPOAP1	AKT2	RPS15A	OTC	CHRNA1	CPOX	POU1F1	DISP1	ATP7B	SCN1A	MT-TL1	TIMMDC1	RAPSN	TERT	PDGFB	MOG	CTSH	HMGCL	TLR3	FIG4	HADH	POU2AF1	MYD88	GCSH	PIK3CA	EIF2B1	AUH	EIF2B4	DMPK	SLC22A5	MT-TT	RPL15	ACADM	HADHB	NDUFAF4	TLR4	FBP1	PRPS1	ARSA	POMT1	PTS	EIF2B5	HJV	PRDX1	CYP24A1	SLC25A13	KRT18	DOK7	GCDH	TSHR	SLC25A15	PCCB	IRF5	SPIB	DUOX2	CPT1A	ETFB	GAS1	USP18	ATP5MK	GCH1	NFS1	IL12B	TCN2	STAT6	STX11	DLL1	SLC39A4	SLC2A3	MMUT	NODAL	RPS24	IFNGR1	HLCS	THRA	PCCA	MMAA	KIF1A	C4A	ADA2	TNFSF4	RPS19	NUP88	NNT	HAMP	MMAB	HCRT	SMARCB1	TBC1D24	NFU1	ABCD1	UNC13D	NBAS	IL23R	INSR	ETFA	MT-ND4	MYOD1	IL18BP	GBA	ADAMTS13	PPOX	AVP	NDUFB3	NDUFA1	MT-ND6	PSEN2	NDUFB9	ABAT	ASL	ABCD4	NDUFAF5	KCNJ11	STAT3	ETFDH	ABCA7	RRM2B	TSHB	HLA-DQB1	TICAM1	CFHR1	MT-CYB	BOLA3	SLC5A5	SCO2	FOXRED1	SLC19A3	SURF1	STAG2	RYR1	HADHA	TBP	STAR	ABCC8	MMEL1	RPS17	RPS7	MT-TW	PROP1	SCN4A	RPS28	UCP2	ALDOB	NF2	RPL35	SLC25A20	CUBN	FKRP	RPL5	GLI2	SMO	NDUFAF2	NDUFAF8	IRAK1	KRT8	SNCB	APP	MCCC2	COL13A1	UBAC2	RPS27	AKT1	PLA2G6	CHRND	MT-ND2	ADORA2A	EIF2B2	PAX8	SLC12A3	LHX4	MEFV	LHX3	IVD	RPS20	GNAS	ALAD	EPM2A	HNF1A	SLC4A1	MCCC1	MUSK	SMC1A	DDC	CACNA1A	ERCC4	MC2R	MT-CO3	SLC7A7	GNA11	GJB1	SUFU	CCR1	NDUFB8	TMEM126B	BCKDHB	PRNP	SLC25A22	DUOXA2	LONP1	NAB2	SLC13A3	ASS1	POMT2	PRRT2	PIGG	ALDH4A1	SORL1	MAN2B1	GLDC	CFH	PIGA	DPYD	DHCR7	HMBS	NDUFS3	GK	NDUFB11	LMBRD1	NAGS	COA8	IL10	LRP4	MT-TS2	NDUFS4	SIM1	GYS2	CDKN1B	COL3A1	RPL11	PRDM8	MT-ND5	MRAP	SLC18A3	RPL26	SLC25A19	SIK1	CFHR3	HLA-DRB1	HESX1	BRAF	SLC1A2	P2RY11	TPO	MRPS16	NDUFA11	ERCC2	TNFSF15	STXBP2	KLRC4	POLR3A	RPL31	HFE	CHRNA2	NDUFV2	NDUFA6	RPS29	SPR	AK9	SNCA	TSR2	EIF2B3	ATP5F1D	CDKN2C	HNF4A	GLYCTK	FAS	TREM2	MAGEL2	SUGCT	CPS1	MT-TQ	NUBPL	LARGE1
HP_FOCAL_DYSTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_DYSTONIA	KCTD17	PARK7	VPS11	SUPT16H	DRD2	ALS2	B3GALT6	SPTLC1	SIGMAR1	GCH1	MAPT	PLA2G6	CEP85L	HK1	COL6A1	CACNA1A	SYNGAP1	TGM6	CP	COL6A2	MYF5	VPS16	HSPG2	ATP1A3	TIMM8A	PRRT2	SLC19A3	GDAP2	NEK9	NGLY1	ACTA1	TBC1D24	FGFR2	PRKRA	MECR	POLR1C	GNAL	HPCA	KMT2B	COL12A1	COL6A3	COASY	AARS1	TWIST1	ANO3	FGFR3	ATP13A2	C19orf12	KCNC3	POLR1B	THAP1	PNKD	SALL4	FTL	TAF1	ZNF142	PANK2	COLEC11	CDK10	HINT1	TCOF1	VPS13A	SPG11	CNP	PCGF2	NAA10	GNAS	CASR	KIF1C	POLR1D	TOR1A	SCP2	AOPEP	COX20	SPTBN1	TUBB3	DDC	FUS	TGFB2	CPLX1	GNA11	TRPV4	TH	SLC39A14	SGCE	DRD5	ATN1	TSPOAP1	FLI1	ARX	TUBB4A	ALG9	VAC14	STX16	KCNA1	PRKCG	CIZ1	MAFB	TBP	CHN1	STARD7	ALDH18A1
HP_HEMIPLEGIA_HEMIPARESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMIPLEGIA_HEMIPARESIS	TSC1	EOGT	IL12A-AS1	MT-TW	MT-ND6	RPE65	IL12A	ARG1	OPA1	DCC	FGFR1	ARX	SLC2A1	DNM1L	IFT140	POMT2	MT-TL1	MT-ND5	CEP290	CFHR1	MT-CYB	CTLA4	MT-TV	SMARCAL1	NPPA	PCYT1A	LAGE3	SLC12A6	DOCK8	BAP1	MTHFR	HLA-B	PRKCZ	ERAP1	MT-TH	SMARCE1	SPOP	SPP1	NF2	WDR4	TPRKB	RDH12	UBE4B	GDF6	MLH1	THSD1	PEX7	MT-CO1	TRAF7	NOTCH3	ADA2	IMPDH1	CBS	SMO	IRAK1	MT-ND1	RRM2B	HESX1	PRF1	TREX1	RNASEH2C	STAT4	UBAC2	AKT1	NUP107	IFIH1	SLC1A3	AIPL1	HLA-DQB1	AKT3	OSGEP	RNASEH2B	GUCY2D	ABCC6	PDGFRB	MEFV	RHOBTB2	ARHGAP31	MT-ATP8	KCNAB2	MTOR	CACNA1A	MEOX1	RPS20	CPT1A	SCN5A	TUBB2B	L1CAM	MT-TF	ATP1A3	HLA-DPA1	GUCY1A1	SEMA4A	CYP26C1	SMARCB1	CTC1	MMP23B	SOX3	MT-CO3	ATP1A2	SUFU	PDPN	EPCAM	COL3A1	SUOX	NOTCH1	LRAT	CCR1	MT-CO2	TBK1	PRDM16	PRNP	PMS2	NAGA	PROKR2	SCN1A	TERT	PDGFB	PRRT2	PIK3CA	HMGCL	LCA5	FKTN	CFH	PAH	PTPN22	SP110	SAMHD1	TLR3	SPATA7	ARNT2	HSPG2	SPEN	POMT1	RERE	SOX2	TSC2	USP45	ADAR	GMPPB	TGFBR3	MLH3	ENPP1	TLR4	MT-TC	TGFBR2	DNASE1L3	ENG	IL10	PNPLA6	SNORD118	B3GALNT2	MT-TS2	RD3	MSH2	TP53RK	KRAS	NUP133	PMS1	CRX	TPP2	DOCK6	FKRP	GDF3	TULP1	CASZ1	GALC	GBE1	CFHR3	HTRA1	SPATA5L1	MMUT	COL4A1	IFNGR1	NMNAT1	PNPLA8	MSH6	KCNJ13	TP53	C4A	PRTN3	CRB1	LUZP1	HPRT1	LARGE1	BMPR1A	IKBKG	RPGRIP1	FAN1	POMGNT1	ANGPTL6	DLL4	TBC1D24	HLA-DPB1	KLRC4	COL4A2	OTX2	TTR	ABCD1	IQCB1	PTEN	GABRD	SKI	WDR62	MT-TQ	IL23R	WDR73	MT-TK	RNF216	RBPJ	MT-ND4	RNASEH2A	FAS	GNAQ	PHYH	TTPA
HP_NEOPLASM_OF_THE_NERVOUS_SYSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_NERVOUS_SYSTEM	NF1	SUFU	YY1	DICER1	KIT	CDKN2B	LRP1	AKT1	CDKN1B	POLE	SDHC	BRAF	SMARCA4	SLC25A11	ERBB2	KRIT1	MAX	VHL	TSC2	SPRED1	SDHD	MLH1	FAM149B1	CDKN1A	TOP2A	APC	LZTR1	BAP1	BRCA2	PRKCZ	PHOX2B	ATRX	SMARCE1	DNMT3A	NF2	SIX6	PTEN	TP53	MSH3	MYCN	DLST	UBE4B	MEN1	WRN	TRAF7	TSC1	NOTCH3	MN1	EPHB2	IDH1	SMO	CREBBP	LMO1	ALX3	RET	PTCH2	NSD1	LIN28B	KIF1B	PDGFRB	EWSR1	SOX2	SDHAF2	KCNAB2	FGFR1	CDKN2A	SETD2	RPS20	HACE1	SDHB	MSH2	OCRL	SPTBN1	HRAS	SEMA4A	SMARCB1	NBN	L2HGDH	ELP1	MMP23B	MDH2	PIK3CA	CPLANE1	TOPORS	SETBP1	KARS1	PDPN	EPCAM	ARMC5	ALK	PRDM16	PMS2	RAF1	PRKAR1A	BDNF	FLI1	IFNG	TMEM127	GNAS	SDHA	TERT	NAB2	POT1	MDM2	PDGFB	CTNNB1	NTHL1	MYO1H	USF3	RELA	GPC3	APC2	SEC23B	HSPG2	ASXL1	WDPCP	ALX1	RB1	SPEN	RERE	RNF43	TMEM216	GLI3	POLD1	KEAP1	MLH3	VPS16	TGFBR2	FAT4	OFD1	GDNF	ZSWIM6	ASCL1	COL14A1	ADAMTS3	MAFA	KRAS	KCNJ11	PMS1	KIAA0753	GCDH	TUBB	MAPRE2	PTPN11	LMNA	KIF7	RUNX1	CHEK2	PDCD10	CASZ1	KLLN	AAGAB	MSH6	BRD4	CCND1	STAT6	BMPR1A	TCTN3	NRAS	PDE6D	ZFTA	LRP5	EP300	PTCH1	CCBE1	LUZP1	FH	FAN1	GPC4	PALB2	GABRD	SKI	IDH2	CCM2	DAXX	WT1	GCGR	CDKN2C	EPAS1	EDN3	NUTM1
HP_HEMATOLOGICAL_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMATOLOGICAL_NEOPLASM	SAMD9	FASLG	CALR	EFL1	TERC	CTLA4	DKC1	IL7R	GATA2	MPL	KRAS	ICOS	GFI1	GATA1	RAD51	RAG2	BRAF	XRCC4	NRAS	DNMT3A	CD19	TINF2	HAX1	TET2	PRKCD	PIK3R1	FANCC	SRP72	TERT	SMARCAL1	PNP	SCN9A	TNFRSF13B	MLH1	RHOH	RPL18	RPS17	RPS7	F13B	FANCF	ERCC4	IGKC	PGM3	FANCD2	ATM	RAG1	RPS28	SRSF2	HSCB	MSH6	JAK2	FOXP1	BCR	TNFRSF13C	RPL35	CD28	IKZF3	XIAP	LZTR1	CTC1	CASP10	EVC2	PTEN	SAMD9L	RPL5	GLI1	WAS	BRCA2	TNFSF12	DEF6	FANCG	CEBPA	FANCL	IDH1	RNASEH2C	RUNX1	RPS27	NSD1	FANCE	FANCA	IFIH1	NBN	BAX	FLT3	PDGFRB	CD27	STAT3	MLLT10	RNASEH2B	HLA-DQA1	TREM2	SBDS	MSH2	NFKB1	PALB2	SETD2	NUMA1	NPM1	PRF1	ASXL1	RPS20	RMRP	BUB1B	MAD2L2	ALAD	CBL	ARHGAP26	TNFRSF1B	SH2B3	TP63	RARA	RPL27	RPS14	ELANE	DYNC2LI1	ETV6	IKZF1	SRP54	RPL35A	RPS10	SH3GL1	RTEL1	BIRC3	PIK3CA	CR2	NF1	RPS26	CD70	SETBP1	EVC	NSUN2	SPRED1	RPS15A	RAF1	MEFV	ADA	LPP	DNAJC21	SCN10A	POT1	MDM2	BUB3	CREBBP	SF3B1	NHP2	CEP57	FANCB	UBA1	PARN	ERBB3	STS	MYD88	FANCI	GINS1	LRBA	TCIRG1	CCND1	SAMHD1	BCL6	RFWD3	FANCM	APC2	BCL10	RPL15	RB1	ITK	RNF43	SMPD1	BCL2	ADAR	DCLRE1C	NFKB2	POLE	USB1	IL2RG	BRIP1	PMS2	APC	RECQL4	DNASE1L3	RASGRP1	LIG4	MAGT1	SMARCD2	COL14A1	NAGS	SLX4	NBEAL2	TAL1	SCN11A	MS4A1	PTPN11	PIGL	THPO	CHD7	CHEK2	ADH5	RPS19	RPL11	ATRX	TYROBP	IGHG2	BLM	WIPF1	CD81	AAGAB	ANAPC1	HSPA9	RPL26	RAD51C	BRD4	CHIC2	PICALM	SH2D1A	SYK	GNB1	NUP214	FAS	RPS24	CTPS1	NOP10	UBE2T	ABL1	ADA2	MAP2K1	RAD54L	FCHO1	NTHL1	CBFB	TCF4	KLHDC8B	TP53	BUB1	RAD54B	CDKN2A	KIF11	SOCS1	HLA-DQB1	RPL31	TRIP13	EP300	ZAP70	MYSM1	WRAP53	RPS29	PDGFRA	TSR2	XRCC2	HLA-DRB1	F13A1	KIT	MYC	RNASEH2A	TAL2	DDX41	NUTM1	MCM4	TREX1	GBA	BRCA1	MALT1
HP_ABNORMALITY_OF_THE_ANUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ANUS	FKTN	COMT	EPCAM	RAD51	RIPK4	RIPK1	SALL4	CD19	GPC3	COX7B	FREM1	MNX1	CDON	FANCC	CEP120	PITX2	ROR2	TNFRSF13B	ISL1	HSPA9	TWIST2	PIGW	POFUT1	UBR1	ELANE	AMER1	FANCF	SIX3	HCCS	CHRM3	ERCC4	TBX1	GPC4	INTU	FANCD2	GAS1	KMT2D	PIGN	PRKCZ	PTCH1	DCHS1	TBX3	DYNC2H1	TWIST1	FANCB	ZIC3	RAD51C	RRAS2	MYCN	UBE4B	IKZF3	GDF6	FKRP	PIGL	ARVCF	CHD7	FGFR2	BRCA2	TNFSF12	HOXD13	CDH11	UFD1	DEF6	ACADVL	MAMLD1	FANCL	PSENEN	FRAS1	POGLUT1	DVL3	DDB1	SEMA3E	ATP2A2	MID1	DACT1	CHD4	SLC25A24	DPYS	RFX6	VANGL1	DOCK8	HIRA	RECQL4	DKC1	NFKB1	PALB2	KCNAB2	UPB1	POR	MEOX1	FREM2	MAD2L2	FANCA	PIGV	KMT2C	WASHC5	FANCG	NODAL	TP63	STIL	KDM6A	NBN	FOXF1	DDX6	ABL1	IL10RA	MMP23B	CDC45	DYNC2I1	COL7A1	SETBP1	PDPN	IL10RB	PRDM16	NSUN2	ZIC2	NAA10	NXN	GATA1	MKS1	PORCN	SEC24C	PTDSS1	POMT2	FGF8	BCOR	SUZ12	TGIF1	FOXC1	EHMT1	WNT3	SNRPB	FANCI	FANCM	TGFB1	CCNQ	HSPG2	LONP1	SPEN	CTNND1	FAT4	RERE	EXTL3	GLI3	ESCO2	SPECC1L	RSPO2	NFKB2	USP9X	FERMT1	EGFR	C2CD3	BRIP1	POMT1	TDGF1	DYNC2I2	LIG4	PGAP3	SLX4	TNRC6B	CDH1	MS4A1	CR2	PGAP2	NDUFB11	MMP1	GDF3	ICOS	CASZ1	TCTN3	CD81	MKKS	FANCE	KIF7	SYK	JMJD1C	CD96	FLI1	AR	CYBC1	DISP1	CCDC22	GLI2	DLL1	PIGO	UBE2T	TNFRSF13C	ADAM17	PPP2R3C	SALL1	SMO	MED12	LUZP1	SPINT2	EMC1	PQBP1	SIN3A	ATN1	PKP1	FUZ	SHH	B3GLCT	FOXH1	RFWD3	GABRD	SKI	PIGY	IFT80	XRCC2	PRKCD	THOC6	RREB1	GRIP1	WNT7A	GP1BB	KRT5	CDK8	BRCA1	CAPN15	WDR35	LARGE1
HP_ABNORMALITY_OF_ALKALINE_PHOSPHATASE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_ALKALINE_PHOSPHATASE_LEVEL	AKR1D1	TNPO3	RUNX1	CYP7B1	PLEKHM1	LRRK1	LBR	ALPL	SLC25A13	TMEM67	ENPP1	SLC34A1	PGAP3	CYP27B1	VCP	ABCB4	TCIRG1	CCDC47	ABCC6	CTNS	SEMA4D	SQSTM1	CYP2R1	FKBP10	FGF23	RB1	TCF4	PIGW	MMEL1	SLC51A	TTC26	SIK3	NR1H4	COG4	SLC2A2	PIGB	HNRNPA2B1	SRSF2	PIGY	IRF5	SPIB	TMEM199	BCR	ABCB11	PGAP2	SGMS2	TP53	IL12A	DMP1	PIGL	ELMO2	PHEX	HNRNPA1	PRKCSH	VDR	TREX1	PIGT	SLC39A4	CEBPE	SC5D	SLC34A3	IL12RB1	CBL	CLCN7	PIGO	GPR35	PIGV	COG6	LIPA	MST1	PTH1R	PIGS	CHEK2	FAM20C	TNFSF15	NPR3	TNFRSF11A	PIGA	ATP8B1	USP53	TNFRSF11B	PKHD1	CCDC115	SLC37A4	CYP3A4	PIGQ	ESR1	HNF1B	SOST	HNF4A	TET2	ASXL1	TRPV6	KIF12	ZNF687	POU2AF1	DCDC2	PIGK	ABL1
HP_AORTIC_VALVE_CALCIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AORTIC_VALVE_CALCIFICATION	HGD	GBA	NKX2-5	SMAD6	LMNA	NOTCH1	GATA5	ZMPSTE24	IFIH1
HP_SUPRAVALVULAR_AORTIC_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPRAVALVULAR_AORTIC_STENOSIS	LDLRAP1	ABCG8	EFEMP2	MLXIPL	GTF2IRD2	FKBP6	FBLN5	ELN	STX1A	PCSK9	VPS37D	RRAS2	BAZ1B	LDLR	BCL7B	TMEM270	GTF2I	NCF1	METTL27	TBL2	CLIP2	RFC2	BUD23	GTF2IRD1	LIMK1	LTBP1	EIF4H	DNAJC30	APOB	ABCG5
HP_MITRAL_VALVE_CALCIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MITRAL_VALVE_CALCIFICATION	ZMPSTE24	HGD	LMNA	GBA	IFIH1	SLC34A2	MTX2	FBN1
HP_PROTRACTED_DIARRHEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROTRACTED_DIARRHEA	CIITA	CD247	SDHD	CD3E	ATRX	RFX5	RFXAP	RFXANK	CD3D	RAG2	MYO5B	DAXX	RAG1
HP_GASTROINTESTINAL_INFLAMMATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROINTESTINAL_INFLAMMATION	CIITA	TNPO3	FASLG	TGFB1	TGFB3	MEN1	TNFAIP3	WAS	REL	PI4KA	IRGM	SKIV2L	IL6	RIPK1	POLA1	IL37	RTEL1	MEFV	RFXANK	PRKCD	RFXAP	IL21	STXBP2	FERMT1	SLC6A5	XIAP	RASGRP1	SEMA4D	LAMA3	RFX5	CTLA4	TCF4	RET	MMEL1	ELANE	F13B	NLRC4	PLCG2	PHGDH	PGM3	PSTPIP1	ATAD1	BCL10	CARD10	HLA-B	SLC9A3	IRF5	SPIB	ARPC1B	MMP1	BACH2	IL12A	LMX1B	CASP10	PIK3CD	GLRB	COL7A1	ADAMTSL2	OPLAH	WIPF1	DEF6	FCN3	INAVA	SLC2A10	FOXP3	MYH11	GLRA1	SYK	STX11	CYBC1	FAS	SLC37A4	IL12RB1	MASP2	GPR35	ZAP70	LAMC2	CARD8	ACADVL	HPS1	COG6	FCHO1	MST1	ATP7A	ADAMTS2	TGFBR1	JAK1	PSPH	LAMB3	GPHN	TNFSF15	IL10RA	TGFB2	TRAPPC11	IGHM	ABCB1	TTC37	NOD2	IARS1	MAP3K7	IL10RB	STXBP1	STAT1	UNC13D	RPL11	SMAD3	GPIHBP1	F13A1	CDKN1B	TGFBR2	IVNS1ABP	HLA-DRB1	PRF1	LRBA	CARMIL2	POU2AF1	NCF4
HP_ENTEROCOLITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENTEROCOLITIS	ACADVL	FCN3	RET	IL10RA	OPLAH	ELANE	SLC37A4	IL10RB	MYH11	NLRC4	STAT1	DEF6
HP_INTESTINAL_PSEUDO_OBSTRUCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTESTINAL_PSEUDO_OBSTRUCTION	PALB2	ACTG2	PALLD	MT-ND6	FLNA	MT-CO2	MT-TH	CDKN2A	RAD21	POLG	SMAD4	BRCA1	MT-TL1	HNRNPK	TWNK	MT-CO1	MT-TF	KRAS	BRCA2	IDS	RABL3	ERBB3	MT-ND1	MT-ND4	MT-ND5	MT-TS2	MT-TQ	TP53	MYH11	MT-TW	MT-CO3
HP_HAMARTOMATOUS_POLYPOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAMARTOMATOUS_POLYPOSIS	PTEN	SDHB	SEC23B	BMPR1A	SDHD	SUFU	PIK3CA	AKT1	STK11	KLLN	MSH3	PTCH2	USF3	SDHC	SMAD4	PTCH1	GREM1
HP_MULTIPLE_GASTRIC_POLYPS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_GASTRIC_POLYPS	MSH3	APC	ENG	BMPR1A	SMAD4	TREX1
HP_MALNUTRITION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALNUTRITION	COL7A1	POLG	ACTG2	EFL1	SLC5A1	LMNB1	SAA1	NOS1	ALDOB	MMP1	CTRC	SRP54	IRF6	MYO5B	SBDS	NECTIN1	MSX1	LIPA	LAMC2	DNAJC21	BMP4	ARHGAP29	DLG1	TP63	SPINK1	SAR1B	COX4I2	LAMA3	TYMP	LAMB3	HLA-DQA1	DLX4	CRLF1	HLA-DQB1	CDH1	SLC7A7
HP_POOR_APPETITE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POOR_APPETITE	PALB2	SLC39A4	SELENON	TPM2	ITGA7	PALLD	SLC2A2	SLC25A13	POLG	SLC25A26	ATRX	PCCB	CDKN2A	MYL2	MAP3K20	PCCA	RHBDF2	SMAD4	ABL1	BRCA1	LEMD2	DAXX	TYMP	RRM2B	KRAS	TPM3	CTNS	BRCA2	CUBN	BLM	RABL3	HACD1	MGME1	RUNX1	ACTA1	PIK3R1	KRT10	AMN	TGFB1	KRT1	BCR	IL18BP	TP53	LIG3	NAGS
HP_ECTOPIC_ANUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTOPIC_ANUS	CHD4	SLC25A24	RFX6	FLI1	DISP1	CCDC22	GLI2	DCHS1	DLL1	RECQL4	FAT4	FREM1	HCCS	PIGO	POR	MEOX1	FREM2	GLI3	ESCO2	COX7B	PIGV	CDON	MKKS	C2CD3	MED12	WASHC5	ROR2	NODAL	STIL	TDGF1	FGFR2	ATN1	DDX6	DYNC2I2	PIGW	SALL1	FRAS1	UBR1	SIX3	DYNC2I1	PGAP3	SHH	GAS1	SETBP1	DVL3	CDH11	FOXH1	PTCH1	TBX3	ZIC2	DACT1	PGAP2	B3GLCT	PIGY	RRAS2	NDUFB11	GDF3	IFT80	GDF6	NXN	PORCN	DYNC2H1	PIGL	PTDSS1	GRIP1	FGF8	SUZ12	PIGN	TGIF1	ACADVL	ZIC3	CDK8	SNRPB	DDB1	WDR35	MID1
HP_PEPTIC_ULCER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PEPTIC_ULCER	CDC73	MLXIPL	GTF2IRD2	FKBP6	ASXL1	MEN1	GNA11	STX1A	CDKN2B	CISD2	VPS37D	CDKN1B	GBA	BAZ1B	ARID1B	ELN	BCL7B	TMEM270	GTF2I	SRSF2	NCF1	METTL27	SLCO2A1	AP2S1	HPGD	CDKN2C	TBL2	CLIP2	PLA2G4A	RFC2	BUD23	GTF2IRD1	LIMK1	EIF4H	DNAJC30	CDKN1A	WFS1	TET2	KIT
HP_ABNORMALITY_OF_THE_PYLORUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PYLORUS	PEX1	RTL1	EFEMP2	NEDD4L	HSPG2	IL1RAPL1	DHCR7	BIN1	ZEB2	HDAC8	DNM2	SPEN	NCF1	RAD21	CYBA	RERE	CLCN4	NPHS1	PEX11B	DYRK1A	NIPBL	FIG4	CAVIN1	DHODH	PEX3	ZNF41	FAT4	PIEZO2	GDI1	PPP2R5D	PEX10	FTSJ1	PEX13	PLEC	HDAC4	ITGA6	TFAP2A	DLG3	ADAMTS3	PEX5	VAC14	SYT2	PEX26	PRKCZ	FBLN5	BRD4	MID2	TBX3	ERMARD	CYBB	MYF6	KANSL1	COL18A1	UBE4B	NCF2	CASZ1	SLC9A7	FRMPD4	MTMR14	ARX	FGFR2	ALG13	RAB39B	CRKL	LTBP1	CNKSR2	STEEP1	MTM1	SLC2A10	ZNF699	SMC3	FLI1	BCR	PEX14	NEK9	LAMA3	MEG3	AGTR2	KCNAB2	SH2B1	DMD	ARHGEF6	CCBE1	PPP2R3C	PEX2	MED12	LUZP1	ARFGEF2	FLNA	PEX6	PEX19	IQSEC2	HRAS	ACSL4	TMTC3	UPF3B	RPS6KA3	MMP23B	SYP	ITGB4	PEX12	PDPN	MAP3K7	HNF1B	ZNF711	PTCHD1	PRDM16	TSPAN7	GABRD	SKI	NAA10	USP27X	NFKB2	MAPK1	MAP1B	LAMB3	DLK1	ZNF81	LAMC2	BCOR	PAK3	NEFH	MECP2	CYBC1	ARF1	RYR1	OTC	USP9X	NCF4	LTBP4	PEX16	SMC1A	HCFC1	SERPINH1
HP_ABNORMAL_NIPPLE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NIPPLE_MORPHOLOGY	RERE	KDM6B	PIGG	GDF11	SRY	COLEC10	ZEB2	HDAC8	TP63	EED	ABCD4	RIPK4	TWIST2	FGF17	RRAS	ALG8	DPM1	GPC3	CKAP2L	RIT1	FIG4	RAF1	KCTD1	SPRY4	KDM1A	MEGF8	CDH2	SOS1	HDAC4	PIGW	NELFA	GNPTAB	TFAP2A	NUP188	ERCC3	AMER1	VAC14	GPC4	INTU	MPLKIP	MAB21L1	MAN1B1	ALG12	LETM1	TBX3	ARHGAP31	CHRNG	KANSL1	EBF3	PTPRF	ANTXR1	LZTR1	NSD2	CHD7	PACS1	ARCN1	PIGL	GTF2E2	CERT1	NECTIN1	WDR11	CDH11	FGFR1	KAT6A	DEF6	TOGARAM1	DPAGT1	IDH1	CILK1	FRAS1	DUSP6	SMC3	PIGT	SLC25A24	GNRHR	NONO	WAC	KATNB1	DHODH	EDA	TBL1XR1	TFAP2B	EFNB1	CPLX1	FREM2	MRAS	CBL	ALG3	PIGV	WASHC5	COG1	SMS	IBA57	WNT7A	KNSTRN	ERCC6	DDX6	MDH2	TCF20	PMM2	KIF15	NF1	NIPBL	NSMF	PEX3	GTF2H5	MGAT2	TARS1	GNB2	CSPP1	UBR1	NRAS	PROKR2	SOS2	PORCN	ERCC2	PIGN	TMCO1	WNT3	MASP1	ALG9	SMC1A	TRAF7	EXOC2	IKBKG	RTL1	RASA2	ADNP	DHCR7	TACR3	RAD21	IGF1R	INSR	RSPO2	TRRAP	SMARCA2	ASXL1	KIAA0586	CCDC47	RAB3GAP2	COX7B	KRAS	PPP2R5D	PNPLA6	SOX6	HNRNPK	SLC25A46	EDARADD	OFD1	PGAP3	CPT2	CHST3	ACTB	BICRA	KIFBP	TNRC6B	SPRED2	BRD4	TUBB	SMPD4	RAB18	COLEC11	PGAP2	MEG3	RFT1	RNF113A	FGF8	B4GALT1	HS2ST1	CTBP1	RRAS2	USP9X	WDR19	HS6ST1	ERMARD	ALG11	WDR37	GNRH1	UBE2A	GATA4	ARHGEF2	PROK2	CCDC22	MADD	GNE	KISS1R	PIGO	PPP1CB	PIK3CD	TCF4	ASXL3	SLC35A2	ATN1	EZH2	KISS1	TAC3	B3GLCT	SETBP1	ACOX1	DLK1	MAPRE2	PIGY	ALG14	COG7	RNF216	GRIP1	WASF1	BRAF	NFIX	ZC4H2	AMMECR1	PTPN11
HP_SPONTANEOUS_RECURRENT_EPISTAXIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPONTANEOUS_RECURRENT_EPISTAXIS	GDF2	LYST	GP9	ENG	MYH9	ITGA2B	GBA	ITGB3	GP1BA	GP1BB	ACVRL1	SRC
HP_ABNORMALITY_OF_THE_SENSE_OF_SMELL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_SENSE_OF_SMELL	ARNT2	SNCA	PROKR2	PRKN	LZTFL1	SHH	SOX2	HYLS1	DCC	ANK1	PARK7	SMCHD1	SCN9A	FGF17	IFT27	TSHZ1	PINK1	TACR3	VPS13C	HESX1	KISS1	BAP1	PEX7	CEP290	CHD7	SOX10	SMARCE1	FGFR1	HTT	NF2	NDNF	GBA	FEZF1	SEMA3E	ATP13A2	DNAI1	TRAF7	IL17RD	LRRK2	CCDC141	SMO	PROK2	FGFR3	DNAJC13	REV3L	KIF7	AKT1	KISS1R	MFN2	RELN	SLC2A3	PTCH1	PTPN11	GNRH1	NSMF	PHYH	SUFU	SOX9	GIGYF2	HTRA2	SEMA3A	FGFR2	HS6ST1	SCP2	SLC39A14	ATP7A	FGF10	SMARCB1	EIF4G1	VPS35	SYNJ1	DDX6	ANOS1	LGI1	SOX3	ADCY3	OTX2	DNAJC6	DUSP6	ARSL	PODXL	PTCH2	FLRT3	TAC3	UCHL1	SPRY4	PLXND1	TERT	FGF8	MICAL1	PDGFB	WDR11	PIK3CA
HP_HYPOSMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOSMIA	PTPN11	SNCA	PRKN	NSMF	LZTFL1	GIGYF2	HTRA2	DCC	SEMA3A	PARK7	SMCHD1	HS6ST1	SCP2	SLC39A14	SCN9A	FGF17	IFT27	CHD7	TSHZ1	PINK1	TACR3	VPS13C	EIF4G1	VPS35	HESX1	SYNJ1	DDX6	ANOS1	PROKR2	ADCY3	DNAJC6	CEP290	IL17RD	DUSP6	PODXL	FLRT3	PROK2	FGFR1	NDNF	GBA	UCHL1	FEZF1	SPRY4	ATP13A2	FGF8	LRRK2	CCDC141	SOX10	DNAJC13	WDR11
HP_DEVIATED_NASAL_SEPTUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVIATED_NASAL_SEPTUM	NF1	PAH	EP300	CREBBP	EXOSC5	NONO
HP_ABNORMALITY_OF_THE_PULMONARY_ARTERY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PULMONARY_ARTERY	SNAI2	SOX10	EOGT	ELN	MLXIPL	NTNG2	RPL10	ZMIZ1	ZEB2	ALDH18A1	PLXND1	TRMT1	SKIV2L	GATA6	SMG8	RRAS	KDM4B	BRAF	RIT1	GTF2I	BCOR	NCF1	RAF1	ARSL	PSMD12	MED13	DOCK3	GDF1	DGCR6	LIMK1	MED27	EIF4H	CLCN3	MED12	TTC26	MITF	LIFR	FBLN5	ARHGAP31	SLC2A10	PAX6	WRN	ACTL6B	CHD7	NKX2-5	TNRC6B	EMC10	LTBP1	DPYSL5	DVL3	TANC2	SEMA3E	PTPN23	BCL11B	TRIP12	ITPR1	DDX6	NAA10	NOTCH2	BMPR2	BCAS3	FGFR1	MADD	MAPK8IP3	MRAS	EFEMP2	KCNMA1	PALS1	BCL7B	CLCN7	COL5A1	TGFBR1	FBXW11	WDFY3	SOS1	ACTL6A	BPTF	TCF20	WNT4	JAG1	TTC37	TBX1	TNFSF11	TMEM94	NOTCH1	POLA1	IFT43	PIGN	BCORL1	NRAS	RLIM	SOS2	METTL27	TBL2	TGFBR2	TLL1	CCDC32	LTBP4	MYT1L	ESS2	FADD	HS2ST1	ANKRD17	RTL1	RASA2	CCNQ	SRCAP	PKD1L1	SATB1	TMEM270	SLC12A2	RFC2	FOXF1	KRAS	NODAL	HTT	GPC6	UBR7	KMT2E	MGP	KITLG	FKBP6	SPRED2	STX1A	GRIA4	PTPN11	HPDL	LMNA	DOCK6	BAZ1B	OTUD5	MEG3	MYH7	COL3A1	DGCR2	RRAS2	BUD23	UBE2A	LMBRD2	DNAJC30	CRTAP	GATA4	TRAIP	LZTR1	TCF7L2	PUS7	GTF2IRD2	SNX10	SVBP	SYNCRIP	PIGL	TYR	VPS37D	AASS	TCIRG1	NKX2-6	PPP1CB	STRA6	TAOK1	AGO2	RNF2	WASF1	IPO8	DLL4	NTNG1	MMP21	SPTBN1	B3GLCT	PIGO	CNOT3	DLK1	FLT4	HUWE1	DGCR8	EDNRB	KAT8	CLIP2	SETD1A	CBL	RBPJ	AGGF1	TRAPPC4	GTF2IRD1	BGN	JARID2	CRELD1	FBN1
HP_PULMONARY_ARTERY_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_ARTERY_STENOSIS	RTL1	RASA2	ELN	BCL11B	EFEMP2	MLXIPL	GTF2IRD2	SNX10	CCNQ	MGP	RPL10	ZEB2	ALDH18A1	NAA10	PLXND1	NOTCH2	SKIV2L	PIGL	GATA6	FGFR1	VPS37D	RRAS	MRAS	TCIRG1	NKX2-6	PPP1CB	RIT1	TAOK1	BCL7B	TMEM270	GTF2I	BCOR	NCF1	RAF1	CLCN7	ARSL	FBLN5	RFC2	FOXF1	KRAS	LIMK1	SOS1	EIF4H	GPC6	MED12	WNT4	JAG1	TTC37	FKBP6	TNFSF11	SPRED2	STX1A	PIGO	POLA1	DLK1	ARHGAP31	SLC2A10	IFT43	BAZ1B	MEG3	PIGN	NRAS	SOS2	WRN	METTL27	NKX2-5	TBL2	CLIP2	CBL	RRAS2	BUD23	GTF2IRD1	UBE2A	LTBP1	LTBP4	DNAJC30	GATA4	LZTR1	PTPN11
HP_PRECOCIOUS_ATHEROSCLEROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRECOCIOUS_ATHEROSCLEROSIS	LDLRAP1	PCSK9	ABCG8	LMNA	TNXB	APOB	APOA5	LDLR	ABCG5	CYP27A1
HP_INTERMITTENT_CLAUDICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERMITTENT_CLAUDICATION	JAK2	XYLT1	MPL	AGXT	XYLT2	TET2	NT5E	ABCC6
HP_THROMBOPHLEBITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THROMBOPHLEBITIS	SERPINC1	PROC	PROS1	MTHFR	F2	PTEN	AKT1	TGFB2	F13A1	HABP2
HP_RECURRENT_THROMBOPHLEBITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_THROMBOPHLEBITIS	SERPINC1	MTHFR	TGFB2	F13A1	F2	HABP2
HP_ARTERIAL_THROMBOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTERIAL_THROMBOSIS	HLA-B	PTPN22	IL12A-AS1	CALR	MPL	P4HA2	HLA-DRB1	IL12A	CCR1	ERAP1	IFNGR1	JAK2	MEFV	THPO	FCGR2C	PROS1	SERPINC1	IL23R	TET2	C4A	SH2B3	TLR4	CBS	IL10	FAS	TP53	STAT4	MYH7	PTEN	AKT1	UBAC2	PIGA	KLRC4
HP_ELEVATED_SYSTOLIC_BLOOD_PRESSURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_SYSTOLIC_BLOOD_PRESSURE	FLT1	AGTR1	ADD1	PTGIS	AGT	ECE1	NOS3	AVPR2	CORIN	CYP3A5	STOX1	GNB3
HP_BIPARIETAL_NARROWING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIPARIETAL_NARROWING	PLK4	TUBGCP6	HRAS	TUBGCP4	CD96	TCTN3	RPGRIP1L	TMEM237	DHCR7	CEP120	NRAS	PDE6D	MKS1	HYLS1	CEP290	ARMC9	TMEM216	XRCC4	KRAS	HNRNPU	KIF1A	SUFU	MAP2K1	ZNF423	ZNHIT3	CEP41	LIG4	ARL3	INPP5E	OFD1	TMEM67	CSPP1	MAP2K2	FAM149B1	CC2D2A	ARL13B	KATNIP	TMEM231	AHI1	CBY1	CPLANE1	TMEM138	TOPORS	ANKRD11	B9D1	KIAA0753	CEP104	NPHP1	PIBF1	MCOLN1	KIF7	TCTN1	MEIS2	KIAA0586	CUL4B	SC5D	GATA4	BRAF	PTEN	TCTN2
HP_FLAT_FOREHEAD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLAT_FOREHEAD	COG7	PIK3CD	CHST14	EXT2	KCNH1	FGFR2	CAMK2G	B4GALT7	KNSTRN	LRP5	RECQL4	TWIST1	IL11RA	IARS2
HP_ABNORMALITY_OF_THE_CHEEK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CHEEK	KDM6B	KAT6A	CITED2	MLXIPL	LRP1	HK1	DPM1	CCDC88A	SNRPN	CPE	GPC3	TMEM216	AIP	FBN1	NKX2-5	FLNB	KIDINS220	ACTB	NKX2-6	HSPG2	CTBP1	EYA1	ZNHIT3	SPECC1L	TCTN2	ACTG1	VPS33A	MED12	GATA6	TFAP2A	POLR1C	IDUA	KLLN	KAT6B	PUF60	GPC4	GNAS	IER3IP1	KMT2D	ODC1	FBLN5	TAFAZZIN	GATA4	B9D1	CSPP1	PRMT7	CDK5	SIX1	WDR19	FGFR1	TMEM237	KCNH1	LRP5	LMX1B	TECPR2	SEMA3E	BMP2	KDR	FGFR2	EDN1	NOTCH2	SALL4	ALX3	LTBP1	PCLO	MITF	DDB1	ATP7A	SC5D	BRAF	MID1	WDR26	SLC35A2	KLHL7	SLC37A4	JAG1	MEG3	CEP290	PPP1R15B	EP300	WDR35	HNRNPU	POLR1D	SHANK3	CRLF1	EDNRA	WASHC5	CLCN3	PAX1	OCRL	PIGS	SPTBN1	HRAS	CYP26C1	KDM6A	TCF4	PSPH	WAC	RPGRIP1L	PLCB4	TASP1	TXNL4A	NRAS	MAP3K7	STXBP1	AUTS2	GSC	CHD7	GNB2	DACT1	RPGRIP1	SEMA5A	ARID1B	STAG2	TUBB4A	PIGN	DLK1	IFT52	LARS1	NSD2	TBX1	PSMC3	FLT4	SIX5	EXT2	TBL1XR1	MAFB	CHN1	TMEM231	ZPR1	NALCN	B9D2	RTL1	IDS	EFEMP2	ASXL1	ALX1	CPLX1	FGFRL1	KMT2E	EXTL3	ANK1	EFTUD2	DPYD	PIK3CA	H1-4	MAP2K1	ATP6V0A2	SIM1	UBE3B	CREBBP	BICRA	PIGB	ELN	IRX5	XYLT2	GNAI3	RAB23	ZFPM2	TCTN3	TGDS	HNRNPK	SON	VPS13B	KRAS	POLR1B	GATA5	EIF2S3	BCOR	UBE2A	TXNDC15	MSL3	FLNA	TCTN1	ELMO2	SNX14	TCOF1	PCNT	GPR101	KIF7	SYK	NGLY1	IFT122	CLCF1	GDF1	CCDC22	SH3BP2	NEK9	MED13L	AGL	PPP1CB	KIF1A	LETM1	SOX11	SALL1	FGF3	TMEM107	TRMT10A	SETD1A	NAA10	FN1	LMNA	SETD1B	INTS1	TBCE	MAP2K2	SLC26A2	TFE3	MOCS2	EIF2AK3	TMEM67	KIF11	ZNF462	SLC29A3	MKS1	COL2A1	GJA5	TMEM260	IARS1	ANKRD11	CTNND2	B3GLCT	CC2D2A	SF3B4	YARS1	PIGQ	WBP11	PURA	STX16	MOCS1	SH3PXD2B	AFF4	AEBP1	SVBP	KCNJ2
HP_ELFIN_FACIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELFIN_FACIES	BCL7B	TMEM270	GTF2I	HEPHL1	CYP24A1	NCF1	MLXIPL	METTL27	GTF2IRD2	FKBP6	TBL2	CLIP2	RFC2	STX1A	BUD23	GTF2IRD1	LIMK1	EIF4H	INSR	VPS37D	DNAJC30	BAZ1B	FARSA	ELN
HP_RECURRENT_VIRAL_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_VIRAL_INFECTIONS	CIITA	RAG1	EFL1	RALGAPA1	WAS	CTPS1	REL	BTD	CD3E	DOCK8	GFI1	CD8A	FLI1	TPP2	DCLRE1C	NHEJ1	RAG2	RFXANK	RMRP	RFXAP	BTK	PIK3CD	JAK1	KNSTRN	MAGT1	IL7R	UNC93B1	PNP	RFX5	ELANE	IRF9	SRP54	ADA	STK4	CYBB	TYK2	IGKC	PGM3	IGHM	FCGR3A	MALT1	MBL2	IL2RG	ZAP70	STAT1	JAK3	EPG5	CD3D	IL2RA	NFKB2	SBDS	DNAJC21	IGHG2	BLM	CD247	UNC119	RNF168	GATA2	DEF6	MCM4	TCIRG1	CASP8	SP110
HP_SEVERE_COMBINED_IMMUNODEFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_COMBINED_IMMUNODEFICIENCY	PGM3	RAG1	BCL11B	IL7R	PTPRC	TTC7A	RAG2	CHD7	XRCC4	JAK3	ADA	IL2RG	DCLRE1C	LIG4	AK2	PRKDC	EXTL3	PNP	RMRP	MTHFD1
HP_AGAMMAGLOBULINEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGAMMAGLOBULINEMIA	CIITA	IGHM	LRRC8A	SH3KBP1	PIK3R1	IGLL1	HELLS	BTK	RFXANK	IL2RG	RFXAP	TCF3	IKBKB	CD79A	CDCA7	TIMM8A	RFX5	BLNK	CD79B
HP_CRANIAL_HYPEROSTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRANIAL_HYPEROSTOSIS	ALMS1	B3GALT6	GNAS	TNFRSF11A	KRAS	XPA	GJA1	FGFR1	LRP4	SMAD4	DDB2	TNFRSF11B	COL1A1	ERCC3	SLC39A14	PTDSS1	PTEN	LRP5	PRKAR1A	ANKH	SOST	HNRNPA2B1	AMER1	PIK3CA	ERCC5	TBXAS1	THOC2	TCIRG1	CA2	ERCC4	ERCC2	MAN2B1	VCP	TNFSF11	COX4I2	AKT1	SLC29A3	RPS6KA3	IDUA	XPC	FLNA	HNRNPA1	ABCC9	NOTCH3
HP_CRANIOFACIAL_DYSOSTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRANIOFACIAL_DYSOSTOSIS	EFTUD2	PDE4D	EDNRA	PRKAR1A	ALX4	SLC25A24	RPS26	POLR1C	FGFR2	MSX2
HP_CORONAL_CRANIOSYNOSTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORONAL_CRANIOSYNOSTOSIS	SLC25A24	FGFR2	ZIC1	POR	FGFR3	PIGO	ALX4	RECQL4	P4HB	MSX2	FGFR1	TWIST1	RAB23	EFNB1	ZEB2	CEP120	SCUBE3	POLA1	CTSK	SEC24D	GTF2E2	CCBE1	MASP1	IL11RA	BPNT2
HP_SAGITTAL_CRANIOSYNOSTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SAGITTAL_CRANIOSYNOSTOSIS	HNRNPK	SON	IFT122	TBC1D24	ZIC1	KRAS	RECQL4	WDR19	IFT43	DPF2	GLIS3	IL11RA	DPH1	RAB23	CDC45	ATP6V1B2	FGFR2
HP_LAMBDOIDAL_CRANIOSYNOSTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LAMBDOIDAL_CRANIOSYNOSTOSIS	HNRNPK	ZIC1	POR	FGFR2	KRAS	BMP4	RECQL4	SEC24D	MASP1	TWIST1	IL11RA	RAC3	RAB23	ERF
HP_SPHEROCYTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPHEROCYTOSIS	SLC4A1	SPTA1	ANK1	EPB42	RHAG	SPTB	RHD	RHCE
HP_ELLIPTOCYTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELLIPTOCYTOSIS	SPTB	SPTA1	EPB41	KCNE5	CA2	NHLRC2	TRNT1	AMMECR1	GYPC	GATA1	ACSL4	SLC4A1
HP_STOMATOCYTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STOMATOCYTOSIS	RHAG	GP1BA	SLC2A1	ERF	ABCG8	SLC4A1	SPTA1	GYPC	RHD	RHCE	EPB41	ABCB6	SPTB
HP_POIKILOCYTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POIKILOCYTOSIS	CAD	SAR1B	PKLR	EPB41	VPS13A	CA2	SC5D	CRIPT	SLC19A1	RHAG	GATA1	EPB42	ANK1	RHD	SLC4A1	ACSL4	RHCE	AMMECR1	HBB	G6PD	CFHR1	TRNT1	SPTA1	KCNN4	JAK2	KIF23	TOR1A	GYPC	TET2	MPIG6B	SPTB	PIEZO1	UMPS	ABCB6	TMPRSS6	MTTP	UROS	CALR	STEAP3	XK	CDIN1	GP1BA	SLC2A1	CDAN1	CUBN	KCNE5	CYP4F22	PANK2	NHLRC2	ERF	ABCG8	AMN	MPL	CFH	CFHR3	APOB	ADAMTS13	CASK
HP_FULMINANT_HEPATIC_FAILURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FULMINANT_HEPATIC_FAILURE	HADH	GFM1	IL18BP	XIAP	SH2D1A
HP_ABNORMALITY_OF_THE_MIDDLE_EAR_OSSICLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MIDDLE_EAR_OSSICLES	IDS	SETBP1	POU3F4	NOTCH3	GDF6	PSMD12	RAD21	COL1A1	GJB2	NOG	ABCC6	BPTF	COL1A2	EYA1	ENPP1	TFAP2A	SIX1	SIX5	GJB6
HP_OVERFOLDING_OF_THE_SUPERIOR_HELICES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVERFOLDING_OF_THE_SUPERIOR_HELICES	PLCB4	FGFR2	SALL1	BICRA	GNAI3
HP_DILATATED_INTERNAL_AUDITORY_CANAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DILATATED_INTERNAL_AUDITORY_CANAL	GJB2	POU3F4	EYA1	GJB6	SIX1
HP_ABSENT_BRAINSTEM_AUDITORY_RESPONSES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_BRAINSTEM_AUDITORY_RESPONSES	ERCC6	ERCC8	SOX10	OPA1	NEFL	MOGS	TIMM8A	ERCC4	OTOF	SPTBN4
HP_CHRONIC_BRONCHITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_BRONCHITIS	RSPH4A	CCDC40	ODAD2	CFTR	RAC2	SCNN1B	DNMT3B	ODAD3	CFAP298	SERPINA1	CCDC65	SPAG1	ZBTB24	SCNN1G	ALMS1	SCNN1A	CARMIL2	CCDC39	GUSB	DNAAF11	DNAAF5	ZMYND10
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	ITGB4	MCTP2	PLEC	DLL4
HP_PROGRESSIVE_MACROCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_MACROCEPHALY	PTEN	AKT1	GCDH	NDUFS4	PIK3CA	GFAP
HP_RELATIVE_MACROCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RELATIVE_MACROCEPHALY	APC	NTNG2	SRCAP	ZMIZ1	VPS35L	TRMT1	BRAF	SATB1	KDM4B	POLE	CEP120	USP7	SLC12A2	PSMD12	MED13	XYLT1	DOCK3	MED27	CLCN3	HTT	IGF2	UBR7	KMT2E	TRIP11	SATB2	POP1	FH	DLK1	GRIA4	HMGA2	ZMPSTE24	HPDL	LZTR1	SON	OBSL1	ACTL6B	TNRC6B	ITCH	MYT1L	CUL4B	EMC10	NONO	MRAS	LMNA	LMBRD2	DPYSL5	DHCR24	CDKN1C	SNX14	TCF7L2	TANC2	PLAG1	RTL1	PUS7	MEG3	PTPN23	TRIP12	USP9X	SVBP	DDX6	PCGF2	SYNCRIP	BCAS3	SHOC2	IHH	THRA	MADD	MAPK8IP3	NF1	DPH1	KCNMA1	PPP1CB	PALS1	AGO2	RIT1	TONSL	FBXW11	WDFY3	RNF2	WASF1	ACTL6A	ACAN	BPTF	NTNG1	TCF20	POLR3A	IFT81	SPTBN1	H19	APC2	CNOT3	HUWE1	BCORL1	RLIM	PTDSS1	NXN	KAT8	SETD1A	TRAPPC4	ACER3	CCDC32	BGN	JARID2	HS2ST1	SERPINH1	ANKRD17
HP_CRANIOFACIAL_ASYMMETRY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRANIOFACIAL_ASYMMETRY	MAF	CTBP1	NSD2	CPLX1	FGFRL1	LETM1
HP_CESSATION_OF_HEAD_GROWTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CESSATION_OF_HEAD_GROWTH	ATP10A	UBE3A	EIF2B1	EIF2B3	PLAA	EIF2B4	OCA2	EIF2B5	SNRPN	EIF2B2
HP_MACROCEPHALY_AT_BIRTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACROCEPHALY_AT_BIRTH	RYR1	MYF6	ODC1	MTMR14	BIN1	SLC16A2	DNM2	PIGN
HP_CALVARIAL_HYPEROSTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALVARIAL_HYPEROSTOSIS	IDUA	COL1A1	PTEN	SLC39A14	AKT1	VCP	HNRNPA2B1	HNRNPA1	PRKAR1A	COX4I2
HP_LARGE_POSTERIOR_FONTANELLE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_POSTERIOR_FONTANELLE	PROP1	INTU	PAX8	GPX4	TPO	TSHR	LHX4	LHX3	DUOX2	DUOXA2	IYD	TG	HESX1	TSHB	POU1F1	SLC5A5
HP_WIDELY_PATENT_FONTANELLES_AND_SUTURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDELY_PATENT_FONTANELLES_AND_SUTURES	MSX2	CYP2R1	RBM10	PEX1	ALPL	SETBP1	SLC34A3	VDR	ZMPSTE24	MED12	LMNA	ACE	REN	AGTR1	CYP27B1	POLR3A	AGT
HP_CRANIOFACIAL_HYPEROSTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRANIOFACIAL_HYPEROSTOSIS	B3GALT6	GNAS	TNFRSF11A	ANKH	SOST	KRAS	XPA	AMER1	GJA1	FGFR1	LRP4	ERCC5	SMAD4	TCIRG1	DDB2	ERCC4	ERCC2	ERCC3	PTDSS1	AKT1	SLC29A3	RPS6KA3	LRP5	XPC	FLNA	TBXAS1	ABCC9	NOTCH3
HP_BILATERAL_CHOANAL_ATRESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_CHOANAL_ATRESIA	TXNL4A	FAT4	SLC37A4	POLR1A	DCHS1
HP_PANCREATIC_ISLET_CELL_HYPERPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATIC_ISLET_CELL_HYPERPLASIA	GPC4	ABCC8	GPC3	KCNJ11	HNF4A	DIS3L2	UCP2	LBR	INSR	SLC16A1	FAH	GCGR
HP_SCARRING_ALOPECIA_OF_SCALP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCARRING_ALOPECIA_OF_SCALP	LAMB3	PLEC	COL17A1	GJB2	UROS	EBP	UROD	GATA1	RHOA	GJB6	CLDN1	LAMA3	MBTPS2	ITGB4	LAMC2
HP_GENERALIZED_HYPERTRICHOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_HYPERTRICHOSIS	SETBP1	KCNH1	KCNN3	NEU1	ATP6V1B2
HP_SEVERE_PLATYSPONDYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_PLATYSPONDYLY	COL2A1	INPPL1	PAM16	EXTL3	FGFR3	PCYT1A
HP_BEAKING_OF_VERTEBRAL_BODIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BEAKING_OF_VERTEBRAL_BODIES	NEPRO	GLB1	COL2A1	RINT1	FUCA1	DYM	SERPINF1	AGA	B3GALT6	FLNB	CCN6	COMP	PLCB3	GUSB	RSPRY1	EXOC6B	SH3PXD2B	NPR2	GORAB	PYCR1	TMCO1	GNPTAB	COL11A2	PRKG2	NF1
HP_INCREASED_VERTEBRAL_HEIGHT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_VERTEBRAL_HEIGHT	CUL7	CCDC8	PPP1R15B	NOTCH2	MAN2B1	FGFR3	TRPV4	ITCH	OBSL1
HP_SCLEROTIC_VERTEBRAL_ENDPLATES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCLEROTIC_VERTEBRAL_ENDPLATES	DMP1	SOST	CLCN7	ENPP1	CCN6
HP_BICONCAVE_VERTEBRAL_BODIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BICONCAVE_VERTEBRAL_BODIES	COL2A1	KIF22	ZBTB20	SERPINF1	MBTPS2	TRAPPC2	NOTCH3	TONSL	IFITM5	COL1A1	NANS	TENT5A	GORAB	NOTCH2	COL1A2	CBS	PYCR1	NMNAT1	FN1	USP8	IDUA	FKBP10	AIP
HP_THORACIC_PLATYSPONDYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACIC_PLATYSPONDYLY	FLNB	PLCB3	PRKG2	RSPRY1	COL2A1
HP_ABSENT_OR_MINIMALLY_OSSIFIED_VERTEBRAL_BODIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_OR_MINIMALLY_OSSIFIED_VERTEBRAL_BODIES	TRIP11	DYNC2H1	FLNB	SLC26A2	ALPL	VPS35L	SOX9	COL2A1	LBR	DYNC2I2	BMPER	IFT80	WDR35	DYNC2I1
HP_CERVICAL_C2_C3_VERTEBRAL_FUSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVICAL_C2_C3_VERTEBRAL_FUSION	GDF6	MEOX1	DKK1	GDF3	AFF4	MYO18B
HP_BICONVEX_VERTEBRAL_BODIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BICONVEX_VERTEBRAL_BODIES	FN1	COL2A1	RMRP	RNU4ATAC	TRIP11
HP_LUMBAR_SCOLIOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LUMBAR_SCOLIOSIS	NIN	IDH1	AP1G1	TBC1D24	ALMS1	PAPSS2	RPL10	COL2A1	ATG7	ATP6V1B2	LONP1
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	PLEC	EMD	SYNE2	FHL1	LMNA	TMEM43	SYNE1
HP_DECREASED_CERVICAL_SPINE_MOBILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CERVICAL_SPINE_MOBILITY	POMT2	PROP1	POMT1	FKRP	FOXA2	GLI2	TRAPPC2	LHX4	CCN6	LHX3	POU1F1	LARGE1	GMPPB	HESX1	OTX2
HP_DECREASED_FACIAL_EXPRESSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_FACIAL_EXPRESSION	ERGIC1	ATXN8OS	MYH3	CC2D1A	FBXO7	FKTN	TPM2	SNCA	POLG	NEB	PYROXD1	KDM6A	GFM2	CCDC174	PABPN1	DLK1	GIPC1	PLA2G6	MRE11	KCNJ6	RIPK4	MEG3	ATP6AP2	DPM2	DNAJC6	PIEZO2	FA2H	MT-TT	RRM2B	PANK2	RYR1	SGCB	GLUD2	FMR1	HSPG2	ATP1A3	KCNH1	SPTBN4	TBP	POMT1	LRP12	JAM2	SLC16A2	TAFAZZIN	TWNK	SLC30A10	TECPR2	MYH7	GBA	PAX6	STAC3	EBF3	ATP13A2	KLHL41	FKRP	KCNK9	SMCHD1	DUX4	SLC20A2	GMPPB	CERT1	TPM3	TNPO2	LRRK2	SNCAIP	ATP6V1A	FTL	VAMP1	SLC18A2	LAMA2	DNAJC13	TK2	REV3L	MYL1	SLC6A9	PODXL	ATP7A	DMXL2	PURA	SYNJ1	GLE1	PLAA	BCL11B	SELENON	ITPR1	ITGA7	HLA-DQB1	NR4A2	ATXN2	MYH2	ADH1C	EIF2AK2	TH	VPS41	GIGYF2	UBA1	ACTA1	UBA5	DNA2	SLC6A8	PDGFB	KMT2D	UBE3A	PIK3CD	HACD1	KNSTRN	EIF4G1	VPS35	TANGO2	PRNP	NOTCH2NLC	MSTO1	SLC6A3	TXNL4A	SLC25A4	SLC39A14	MAPT	ASXL3	RTL1	POLG2	MYL2	PDGFRB	FRG1	DNMT3B	MAP3K20	SPR	DCTN1	PLXND1	HOXB1	POMT2	SLC52A3	LARGE1	TRIM32
HP_TALIPES_VALGUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TALIPES_VALGUS	ADGRV1	MAN2B1	GABRG2	CHMP1A	SCN1B	NONO	RAB3GAP2	LIFR	HCN1	EXT1	STX1B	SCN1A	CARS1	SCN2A	EXT2	SCN9A	GABRD
HP_SHORT_FOURTH_METATARSAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_FOURTH_METATARSAL	EZH2	PEX7	FAT4	HEPHL1	ZNF407	RSPRY1	DCHS1	LZTFL1	PIGS	PHYH	PRMT7
HP_2_3_TOE_SYNDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_2_3_TOE_SYNDACTYLY	APC2	SMAD4	ADNP	IL1RAPL1	DHCR7	RAI1	RALA	RAD21	CLCN4	IFT172	STAG1	BCOR	EBP	CTCF	ZNF41	FBXW11	KCTD1	GDI1	FTSJ1	SYT1	CNOT2	PSMD12	TRIO	GNE	DLG3	ZMIZ1	SIK3	MAN1B1	MID2	RBPJ	PIGY	TTI2	TP63	FGFR2	KCNJ2	MYCN	CSGALNACT1	PUF60	ARCN1	CERT1	BMPR1B	SLC9A7	FRMPD4	ARX	ALG13	BBS7	RAB39B	SLC12A6	CNKSR2	STEEP1	NSD1	GDF5	SLC12A2	TBCK	NEDD4L	CLCF1	AGTR2	SETD2	DMD	SHANK3	ARHGEF6	KCNJ5	FDFT1	SALL1	HEPHL1	NOG	IQSEC2	TBX15	ACSL4	UPF3B	DDX6	RPS6KA3	IL11RA	BMP2	LMBR1	IFT43	CDC45	SYP	POLR3A	NIPBL	TXNL4A	SHMT2	SOX5	MED25	SETD5	ZNF711	SATB1	PTCHD1	TSPAN7	BHLHA9	UBE2A	HOXD13	USP27X	MEIS2	PDE6D	MED12	DDX11	ZNF81	PAK3	MECP2	FGFR1	AP1G1	USP9X	CEP55	HCFC1
HP_4_5_TOE_SYNDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_4_5_TOE_SYNDACTYLY	TELO2	HOXD13	RBBP8	MYCN	TBX15
HP_RENAL_MALROTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_MALROTATION	RBM8A	EYA1	SALL4	PAX2	FIBP	STRA6	SIX1
HP_CALCIUM_NEPHROLITHIASIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALCIUM_NEPHROLITHIASIS	GRHPR	HOGA1	SLC6A19	AGXT	OPLAH	SLC34A2	SLC34A3	SLC6A20	ADCY10	SLC36A2	SLC26A1
HP_IMPAIRED_RENAL_CONCENTRATING_ABILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_RENAL_CONCENTRATING_ABILITY	FAM20A	BSND	CLCNKB	CEP290	CLCNKA
HP_RENAL_CORTICAL_MICROCYSTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_CORTICAL_MICROCYSTS	INVS	PEX1	TTC37	NEK8	PEX2
HP_CROSSED_FUSED_RENAL_ECTOPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CROSSED_FUSED_RENAL_ECTOPIA	KDM6A	KMT2D	APC	WT1	SALL4	LRP4	DDX59	DACT1
HP_ABNORMAL_RENAL_COLLECTING_SYSTEM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_COLLECTING_SYSTEM_MORPHOLOGY	IARS1	PIGA	FANCC	KDM6A	PIGY	SIX1	RTTN	TELO2	FANCD2	POGZ	PIGL	JAG1	SHOC2	OTUD5	PIGN	LAMC2	KMT2D	TNXB	MAPK1	LAMA3	TP63	SUCLG1	LAMB3	EYA1	FANCE	FANCA
HP_ATRIAL_FLUTTER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATRIAL_FLUTTER	SCN5A	TBX20	SGO1	MT-CYB	DMPK	GATA4	CITED2	PRKAG2	SCN3B	TNNI3K	NUP155	TLL1	LMNA	MYH6	ACTC1	GATA6	NKX2-5	CLIC2
HP_PAROXYSMAL_VENTRICULAR_TACHYCARDIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAROXYSMAL_VENTRICULAR_TACHYCARDIA	PKP2	TECRL	ABCC9	SCN2B	SCN5A	CACNB2	SCN1B	KCND3	HCN4	JUP	CACNA1C	SCN3B	KCNE3	SEMA3A	RANGRF	GNAI2	AKAP9	GPD1L	SCNN1A	KCNE5	KCNJ8	SCN10A	SLMAP	CACNA2D1	TRPM4
HP_SUPRAVENTRICULAR_TACHYCARDIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPRAVENTRICULAR_TACHYCARDIA	SCN5A	PKP2	GATA4	DNMT3A	ABCC9	SCN2B	ACTN2	NAA10	MYL2	CITED2	CACNB2	SLC19A2	TNNI3K	SPRED1	SCN1B	KCND3	FLAD1	TBX20	LMNA	TLL1	GATA6	HCN4	BMP2	RYR1	CACNA1C	MT-CYB	SCN3B	KCNE3	SEMA3A	RANGRF	AKAP9	GPD1L	CACNA1S	SCNN1A	KCNE5	KCNJ8	MYH6	ACTC1	SCN10A	SLMAP	NKX2-5	CACNA2D1	TRPM4
HP_VENTRICULAR_TACHYCARDIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENTRICULAR_TACHYCARDIA	ABCC9	SCN2B	RYR2	CACNB2	CALM3	DSP	JPH2	SCN1B	CALM1	CTNNA3	SCN5A	MYOZ2	DSG2	KCNJ5	CACNA1C	MT-CYB	JUP	SCN3B	KCNE3	SEMA3A	GNAI2	NPPA	BTNL2	AKAP9	GPD1L	CACNA1S	SCNN1A	CPT2	TANGO2	KCNE5	SCN10A	SLMAP	CACNA2D1	CASQ2	CALM2	PKP2	TECRL	NAA10	TTN	MYL2	SLC25A20	TRDN	GYG1	KCNJ2	KCND3	NDUFB11	HCN4	CDH2	RYR1	SLC12A3	TPM1	RANGRF	HLA-DRB1	ACADVL	CSRP3	KCNJ8	TMEM43	TRPM4
HP_PAROXYSMAL_ATRIAL_FIBRILLATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAROXYSMAL_ATRIAL_FIBRILLATION	MYL4	SCN2B	GJA5	KCNJ5	RYR2	KCNE2	TRDN	PRKAG2	KCNA5	SCN5A	KCNJ2	TBX5	CSRP3	KCNH2	GNB2	LRP12	ABCC9	SCN1B	CASQ2
HP_PAROXYSMAL_SUPRAVENTRICULAR_TACHYCARDIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAROXYSMAL_SUPRAVENTRICULAR_TACHYCARDIA	SCN5A	TNNI3K	SPRED1	SLC19A2	BMP2
HP_LACTOSE_INTOLERANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACTOSE_INTOLERANCE	PGM3	MCM6	MTOR	SATB1	LCT
HP_ESOPHAGEAL_ULCERATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ESOPHAGEAL_ULCERATION	CTHRC1	ASCC1	COL7A1	MSR1	PLA2G4A	MMP1
HP_MALROTATION_OF_SMALL_BOWEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALROTATION_OF_SMALL_BOWEL	DSE	CHST14	CTBP1	NSD2	CPLX1	FGFRL1	WNT4	LETM1
HP_GASTROINTESTINAL_OBSTRUCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROINTESTINAL_OBSTRUCTION	TGFB1	PALB2	STK11	MVK	TBCE	PDGFRB	EWSR1	ERBB2	MYC	FCGR2A	SDHD	KIT	IL6	HMBS	CALR	SDHC	SMAD4	JAK3	SOX10	ERBB3	FAH	MNX1	FOXP3	SLC6A8	NRTN	CAVIN1	PRTN3	CTLA4	PDGFRA	BRCA2	RABL3	MITF	HLA-DPA1	CD55	ATP7A	ECE1	TP53	SMO	HLA-DPB1	TNFRSF1A	SREBF1	SDHA	MTRFR	NOD2	PALLD	EXT1	SDHB	MEFV	CDKN2A	CTNNB1	APC	EXT2	GDNF	GUCY2C	BRCA1	WT1	NOTCH3	KRAS	RET	SEMA3C	ABCD1	F5	JAK2	EDNRB	ERCC2	MYH11	EDN3	PTPN22	CFTR	PPOX	SEMA3D
HP_RECURRENT_INFECTION_OF_THE_GASTROINTESTINAL_TRACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_INFECTION_OF_THE_GASTROINTESTINAL_TRACT	SH3KBP1	COG4	CIITA	AICDA	IFNGR1	ZAP70	ADAT3	GFI1	CD3E	FLT1	RFX5	JAK3	DCLRE1C	RFXANK	NBN	NFKB2	CD3G	IL21R	ADAM17	MAN2B1	EGFR	BLM	TNFRSF13B	STOX1	ELANE	IRF9	RFXAP	SRP54	VPS33A	SLC35C1	FOXP3	TCIRG1	CARMIL2	CORIN	SP110	NFKBIA
HP_CONGENITAL_HEMOLYTIC_ANEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_HEMOLYTIC_ANEMIA	PKLR	SPTA1	KCNN4	GYPC	PIEZO1	SLC4A1	EPB41	SPTB
HP_ACUTE_MYELOID_LEUKEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_MYELOID_LEUKEMIA	SAMD9	NUP214	EFL1	MPL	MLLT10	TET2	GATA2	RPL15	RPS24	SBDS	GFI1	DKC1	GATA1	DNMT3A	RPS20	ADA2	RPS14	SRSF2	RPS19	RPL27	CBFB	NPM1	DNAJC21	SF3B1	ELANE	ETV6	SRP54	RPL35A	RPS10	SH3GL1	RPL18	RPS17	RPS7	CDKN2A	FLT3	TP53	RPS26	RPL31	ASXL1	RPS28	JAK2	RPS15A	TERT	THPO	MEFV	RPL35	RPS29	RUNX1	CHEK2	ADH5	LPP	TSR2	RPL11	SAMD9L	KRAS	RPL5	BLM	MDM2	BRCA2	KIT	DDX41	CEBPA	RPL26	ERBB3	RPS27	CHIC2	TCIRG1	PICALM
HP_NEONATAL_ALLOIMMUNE_THROMBOCYTOPENIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_ALLOIMMUNE_THROMBOCYTOPENIA	GP1BB	RNASEH2B	GP1BA	RNASEH2A	ITGB3	ITGA2	TREX1	RNASEH2C	ADAR	IFIH1	ITGA2B	SAMHD1	CD109
HP_ANISOPOIKILOCYTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANISOPOIKILOCYTOSIS	CAD	AMN	CUBN	STEAP3	MPIG6B	SC5D	KCNN4	HBB	CRIPT
HP_HYPOCHROMIC_MICROCYTIC_ANEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOCHROMIC_MICROCYTIC_ANEMIA	CP	HBB	TRNT1	ALAS2	CARD10	ATRX	HBA2	KARS1	HSCB	SHPK	LPIN2	HBA1	DNAJC19	ABCB7	C2orf69	TMPRSS6
HP_REDUCED_FACTOR_XII_ACTIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_FACTOR_XII_ACTIVITY	MAP2K1	MGAT2	BRAF	SLC37A4	PTPN11	F12
HP_COOMBS_POSITIVE_HEMOLYTIC_ANEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COOMBS_POSITIVE_HEMOLYTIC_ANEMIA	HMOX1	FASLG	LAT	FAS	RASGRP1	CASP10	TNFRSF4	PRKCD	SOCS1	FOXP3
HP_PROLONGED_BLEEDING_AFTER_SURGERY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLONGED_BLEEDING_AFTER_SURGERY	MCFD2	VWF	GP9	F5	F13A1	GP1BB	F8	P2RY12	F7	SERPINE1	ITGA2B	LMAN1	GP1BA	ITGB3	F13B	F10
HP_REDUCED_PROTEIN_S_ACTIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_PROTEIN_S_ACTIVITY	ALG12	ALG6	DPAGT1	DPM1	MPI	PROS1	B4GALT1
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	THPO	IKZF5	AP3B1	ITGB3	HPS6	P2RY12	SH2B3	CALR
HP_CHRONIC_HEMOLYTIC_ANEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_HEMOLYTIC_ANEMIA	HBB	SPTB	PKLR	TPI1	NHLRC2	ABCG8
HP_PERINEAL_FISTULA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERINEAL_FISTULA	KDM6A	CDK8	SALL1	TGFB1	DACT1	KMT2D	TCTN3	PKP1	SYK	RECQL4
HP_INTERCOSTAL_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERCOSTAL_MUSCLE_WEAKNESS	LAMA2	MYL2	TRPV4	SELENON	TPM2	TPM3	ITGA7	MAP3K20	HACD1	ACTA1
HP_INTERMITTENT_HYPERVENTILATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERMITTENT_HYPERVENTILATION	CASK	TCF4	FBP1	CNTNAP2	MECP2
HP_EPISODIC_RESPIRATORY_DISTRESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISODIC_RESPIRATORY_DISTRESS	SLC18A3	MT-TL1	VAMP1	SLC25A1	SNAP25	SYT2	MT-ND4	MYO9A	AGRN	SLC5A7	COL13A1	MT-TW	MT-ND2	MT-TV	CHAT	MT-TK	MT-ATP6	MT-ND5	MT-ND6	MT-ND3	MT-ND1
HP_RESPIRATORY_FAILURE_REQUIRING_ASSISTED_VENTILATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESPIRATORY_FAILURE_REQUIRING_ASSISTED_VENTILATION	MYH11	POLR1B	GAA	SLC25A46	MTM1	TK2	CSF2RA	BCHE	TFG	TSEN54	IGHMBP2	SMPD1	UNC93B1	CSF2RB	TBCD	ALAD	DPYD	TRAF3	TICAM1	PRPS1	ARSL	MT-TE	HPDL	TBK1	TLR3	NDUFAF8	AHDC1	TRMU	GNPTAB
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	SLC18A3	VAMP1	TTN	SLC25A1	SNAP25	SYT2	SELENON	MYO9A	AGRN	SLC5A7	COL13A1	CHRNA1	CHAT	MYH7
HP_ELEVATED_PULMONARY_ARTERY_PRESSURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_PULMONARY_ARTERY_PRESSURE	RTL1	EOGT	SCARB2	SMAD9	ENG	MPL	IRF5	MT-ND6	SFTPB	FGFR1	ABCD4	HLA-B	G6PC3	GBA	TBX20	SPECC1L	FBN1	NFIX	COX6B1	FIG4	ABCC6	CTCF	HSPG2	SFTPC	LIPT1	SLC37A4	CCR6	COX7B	FOXF1	SMARCAL1	FGFR3	MT-TS2	VPS33A	PPCS	NKX2-5	MT-TW	EIF2AK4	VAC14	TTC26	CHST3	COX5A	KRT18	LIFR	PAM16	GATA6	MT-TH	BMPR2	GDF2	ARHGAP31	ZMPSTE24	THPO	CITED2	DOCK6	HBB	MEG3	NDUFB10	FOXP1	BTNL2	MT-CO1	SLC29A3	CCN2	COLQ	MT-ND1	KRT8	DEF6	MT-ND5	LAMA2	MUC5B	UBE2A	LMNA	MLX	IL12B	ACTA2	MYH6	SMAD4	ACTC1	ENPP1	ZNF699	TBX4	JAK2	ATP5F1A	SLC25A24	COX8A	SARS2	SNX10	CA2	KRAS	MGP	LAMB2	CAV1	NOD2	SFTPA2	TCIRG1	PGM1	CACNA1D	COG1	MT-TF	KIAA0319L	CLCN7	BANF1	IKBKG	ALMS1	ACVRL1	RPL3L	MMACHC	IPO8	DLL4	NF1	NDUFA8	MT-CO3	MYH11	NKX2-1	KCNK3	GATA4	TNFSF11	NFU1	MED25	NOTCH1	MT-CO2	STAT1	MED12	DLK1	HLA-DRB1	IDUA	TLL1	TERT	PIGN	MT-TL1	GJA1	RBPJ	MT-ND4	COL1A2	AFF4	MT-TQ	PDSS1	FLNA	COL1A1
HP_SEVERE_LACTIC_ACIDOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_LACTIC_ACIDOSIS	PDSS2	PDHA1	COX16	MT-TT	SLC25A4	MT-TE	NDUFS4	SLC25A26	TRMU	COQ2
HP_MATURITY_ONSET_DIABETES_OF_THE_YOUNG	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MATURITY_ONSET_DIABETES_OF_THE_YOUNG	BLK	RTL1	HYMAI	ABCC8	PAX4	KCNJ11	GCK	MEG3	DLK1	HNF1A	INS	PCBD1	HNF1B	KLF11	HNF4A	PDX1	ZFP57	APPL1	NEUROD1	CEL	PLAGL1
HP_BICARBONATE_WASTING_RENAL_TUBULAR_ACIDOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BICARBONATE_WASTING_RENAL_TUBULAR_ACIDOSIS	SLC34A1	NDUFAF6	SLC4A4	EHHADH	GATM
HP_HYPOPHOSPHATEMIC_RICKETS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPHOSPHATEMIC_RICKETS	STAT6	ENPP1	PHEX	NDUFAF6	DMP1	SLC34A3	KRAS	CLCN5	NRAS	ABCC6	FAH	HRAS	EHHADH	SLC34A1	NAB2	HNF4A	FGF23	CTNS	GATM
HP_ABNORMAL_MAGNESIUM_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MAGNESIUM_CONCENTRATION	CNNM2	GABRA3	GNA11	SARS2	CLDN16	SLC12A3	KCNJ1	CASR	SLC12A1	GNB2	PLVAP	ATP1A1	FXYD2	GCM2	TRPM6	ALDOB	CLCNKB	PCBD1	EGF	AP2S1	CLDN10	KCNJ18	CLDN19	KCNJ10	BSND	CACNA1S	FOXP3	TBCE	CLCNKA
HP_HYPERPHENYLALANINEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPHENYLALANINEMIA	QDPR	GCH1	PTS	PAH	PCBD1
HP_ABNORMAL_ORAL_GLUCOSE_TOLERANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ORAL_GLUCOSE_TOLERANCE	KCNJ11	KLF11	SLC5A1	GCK	HNF4A	BLK	PAX4	NEUROD1	APPL1	PDX1	ABCC8	CEL	HNF1A	INS
HP_ORTHOSTATIC_HYPOTENSION_DUE_TO_AUTONOMIC_DYSFUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORTHOSTATIC_HYPOTENSION_DUE_TO_AUTONOMIC_DYSFUNCTION	TTR	LRRK2	SNCA	LMNB1	PSAP	COQ2	EIF4G1	VPS35	DNAJC13	ARSA	GBA	NTRK1	GIGYF2	GSN	LEPR	LEP
HP_PULMONARY_ARTERY_DILATATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_ARTERY_DILATATION	PUS7	PTPN23	TRIP12	NTNG2	SRCAP	ZMIZ1	SVBP	DDX6	SYNCRIP	TRMT1	BCAS3	MADD	MAPK8IP3	SATB1	KDM4B	EFEMP2	KCNMA1	PALS1	AGO2	SLC12A2	PSMD12	COL5A1	MED13	FOXF1	DOCK3	TGFBR1	FBXW11	WDFY3	RNF2	WASF1	MED27	ACTL6A	CLCN3	HTT	UBR7	KMT2E	BPTF	IPO8	NTNG1	TCF20	TTC26	SPTBN1	GRIA4	CNOT3	HPDL	HUWE1	COL3A1	BCORL1	RLIM	ACTL6B	TNRC6B	KAT8	SETD1A	TGFBR2	MYT1L	TRAPPC4	EMC10	TLL1	LMBRD2	CCDC32	DPYSL5	BGN	JARID2	HS2ST1	FBN1	TCF7L2	TANC2	ANKRD17
HP_ABNORMALITY_OF_THE_PULMONARY_VASCULATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PULMONARY_VASCULATURE	HYDIN	SNAI2	SOX10	EOGT	ELN	MLXIPL	ZMYND10	NTNG2	DRC1	RPL10	ZMIZ1	SFTPB	ZEB2	ALDH18A1	CCDC40	PLXND1	TRMT1	SKIV2L	GATA6	SMG8	RRAS	GPC3	KDM4B	CDC42	SMAD4	BRAF	RIT1	GTF2I	BCOR	NCF1	RAF1	ARSL	PSMD12	DNAAF2	MED13	DOCK3	TTC12	GDF1	DGCR6	LIMK1	MED27	EIF4H	CLCN3	MED12	NIPA1	CFAP298	TTC26	GPC4	MITF	LIFR	FBLN5	ODAD4	TUBG1	LRRC56	GAS8	ARHGAP31	SLC2A10	PAX6	RSPH1	DNAAF3	MESP2	WRN	ACTL6B	CHD7	OFD1	NKX2-5	TNRC6B	VHL	CITED2	EMC10	LTBP1	DPYSL5	DVL3	SPEF2	TANC2	DNAH1	SEMA3E	PTPN23	BCL11B	TRIP12	ITPR1	SMC1A	DDX6	NAA10	DNAI1	RSPH3	NOTCH2	BMPR2	BCAS3	MCIDAS	MYRF	FGFR1	MADD	MAPK8IP3	MRAS	EFEMP2	KCNMA1	PALS1	BCL7B	CFAP300	CLCN7	COL5A1	TGFBR1	LFNG	RSPH9	FBXW11	WDFY3	SOS1	ACTL6A	BPTF	TCF20	WNT4	DNAAF1	JAG1	TTC37	TBX1	TNFSF11	ODAD3	TMEM94	NOTCH1	EIF2AK4	POLA1	IFT43	PIGN	BCORL1	NRAS	RLIM	SOS2	DNAJB13	METTL27	TBL2	TGFBR2	TLL1	CCDC32	LTBP4	MYT1L	WT1	ESS2	FADD	HS2ST1	DNAAF6	ANKRD17	RTL1	RASA2	ENG	CCNQ	SRCAP	RSPO2	PKD1L1	DNAH5	RPS15A	SATB1	STK36	TMEM270	DNAAF11	FOXC2	SLC12A2	SPAG1	ODAD1	RFC2	DNAL1	FOXF1	CCDC39	KRAS	CCNO	NODAL	HTT	GPC6	UBR7	KMT2E	FOXJ1	MGP	KITLG	RIPPLY2	DNAAF4	FKBP6	SPRED2	STX1A	GRIA4	DNAAF5	NIPA2	PTPN11	RPGR	RSPH4A	HPDL	LMNA	DOCK6	BAZ1B	OTUD5	MEG3	DNAH9	MYH7	COL3A1	CCDC65	DGCR2	RRAS2	BUD23	UBE2A	LMBRD2	DNAI2	DNAJC30	DHCR24	CRTAP	CCND1	GATA4	TRAIP	LZTR1	TCF7L2	DLL3	PUS7	GTF2IRD2	SNX10	SVBP	SYNCRIP	PIGL	TYR	VPS37D	AASS	TCIRG1	NKX2-6	PPP1CB	GAS2L2	STRA6	TAOK1	AGO2	CCDC103	HES7	RNF2	WASF1	ODAD2	IPO8	DLL4	NTNG1	MMP21	TMEM260	NEK10	SPTBN1	B3GLCT	PIGO	CNOT3	DLK1	FLT4	TBX5	HUWE1	DGCR8	ACVRL1	WNT3	EDNRB	KAT8	CLIP2	SETD1A	DNAH11	CBL	RBPJ	AGGF1	TRAPPC4	GTF2IRD1	NME8	BGN	PORCN	CFAP221	JARID2	CRELD1	FBN1
HP_VASCULAR_CALCIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VASCULAR_CALCIFICATION	LDLRAP1	ABCG8	ENPP1	NKX2-5	RNASEH2B	SMAD6	SLC34A2	GBA	STAT1	PCSK9	PDGFRB	GALNT3	ERCC6	ABCC6	IFIH1	ADAR	LDLR	HGD	PDGFB	SLC20A2	NT5E	RNASEH2A	NOTCH1	GATA5	TREX1	RNASEH2C	ERCC8	APOB	ABCG5	SAMHD1
HP_PULMONARY_ARTERY_ATRESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_ARTERY_ATRESIA	MMP21	EOGT	FADD	TBX1	GDF1	DVL3	NKX2-5	TMEM94	PKD1L1	NOTCH1	PLXND1	ARHGAP31	FLT4	DOCK6	OTUD5	NKX2-6	DGCR8	STRA6	DGCR2	CHD7	RBPJ	DGCR6	NODAL	ESS2	DLL4	CRELD1	SEMA3E
HP_VENOUS_THROMBOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENOUS_THROMBOSIS	IL12A-AS1	CALR	SERPINC1	PROC	MPL	IL12A	MTRR	SPINK1	MET	SLC4A1	HBB	TLR4	FGA	CTLA4	TET2	IL10	CD55	PIEZO1	GNAQ	IDH1	PRKAR1A	PROS1	MTHFR	HLA-B	KCNN4	PIGM	ERAP1	GDF2	THPO	SERPIND1	CBS	PDE4D	PMM2	STAT4	ALG6	UBAC2	SMAD4	THBD	JAK2	F9	SAA1	IFNGR1	MEFV	PTH1R	FGB	PGM1	CFTR	C4A	SH2B3	CTRC	PRTN3	PRSS1	PRSS2	HLA-DPA1	TP53	PTEN	ACVRL1	MMACHC	TGFB2	F13A1	KIF11	HLA-DPB1	KLRC4	F5	CTNNB1	CCR1	FGG	PLAT	PDGFRA	IDH2	IL23R	HABP2	ENG	EPAS1	CASR	NOTCH1	EPOR	AGGF1	F2	AKT1	FAS	UBA1	CPA1	PIGA	PTPN22
HP_PULMONARY_ARTERY_ANEURYSM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_ARTERY_ANEURYSM	BGN	COL5A1	TGFBR2	IPO8	EFEMP2	COL3A1	TGFBR1
HP_AORTIC_ANEURYSM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AORTIC_ANEURYSM	ELN	MLXIPL	TGFB3	TGFBR1	NTNG2	ZMIZ1	RAI1	ALDH18A1	FLNB	TRMT1	HLA-B	MAT2A	KANSL1	KDM4B	SMAD4	GTF2I	NCF1	PSMD12	MED13	DOCK3	MYH11	C12orf57	LIMK1	FBN2	HGD	MED27	EIF4H	CLCN3	MYPN	PRKCZ	ZMPSTE24	LOX	FOXE3	ALG9	UBE4B	THSD1	SEMA3E	PTEN	RIN2	TGFBR2	ACTL6B	TNRC6B	COL1A2	NOTCH1	EMC10	CRKL	MLX	COL5A2	RNASEH2C	DPYSL5	SMAD3	ACTA2	PGM3	NSD1	IFIH1	MFAP5	TANC2	CHST3	MID1	SLC25A24	PTPN23	TRIP12	TPM3	RNASEH2B	TSC1	DDX6	LMNA	BCAS3	KCNAB2	SETD2	MADD	MAPK8IP3	EFEMP2	KCNMA1	PALS1	BCL7B	SKI	MYH3	ARFGEF2	SMAD6	FBN1	SPTBN1	FBXW11	WDFY3	ACTL6A	TGFB2	NPR3	BPTF	MMP23B	TCF20	P4HA2	PDPN	NKX2-5	MED12	COL3A1	FBLN5	PRDM16	CHD7	TAB2	MAPK1	PIGN	BCORL1	RLIM	METTL27	TBL2	BRF1	PRKG1	ARF1	CCDC32	MYT1L	HS2ST1	PKD1	ANKRD17	SAMHD1	TPM2	PTPN22	GANAB	APC2	COL5A1	PLOD1	SRCAP	NEDD4L	HSPG2	B3GALT6	SPEN	RERE	ROBO4	ADAR	SATB1	TGFBR3	TMEM270	SLC12A2	KCNH1	RFC2	FMR1	ENG	GATA5	NODAL	HTT	UBR7	KMT2E	B3GAT3	PKD2	COL1A1	FKBP6	STX1A	GRIA4	ERMARD	HPDL	BAZ1B	TSC2	HNRNPK	CASZ1	BUD23	LMBRD2	IL12B	DNAJC30	ERCC8	SLC2A10	TCF7L2	PUS7	BICC1	BCR	GTF2IRD2	DNMT3A	HLA-DRB1	SVBP	SYNCRIP	VPS37D	NOD2	PPP1CB	NKAP	AGO2	SMAD2	LUZP1	FLNA	MYLK	TMTC3	RNF2	WASF1	DNAJB11	ANGPTL6	IPO8	NTNG1	CHRNG	NSMCE2	CNOT3	CARS1	ERCC6	GABRD	HUWE1	MAP1B	HEY2	KAT8	CLIP2	SETD1A	RNASEH2A	TRAPPC4	AFF4	GTF2IRD1	TREX1	AEBP1	JARID2
HP_ACCELERATED_ATHEROSCLEROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACCELERATED_ATHEROSCLEROSIS	XYLT1	LMNA	CELA2A	APOE	ABCA1	XYLT2	CYP7A1	ABCC6
HP_DILATATION_OF_THE_CEREBRAL_ARTERY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DILATATION_OF_THE_CEREBRAL_ARTERY	GANAB	BICC1	TGFBR1	LOX	SMAD3	COL4A1	PLOD3	MAT2A	SMAD4	ELN	TGFBR3	GGCX	SMAD2	PRKAR1A	COL5A1	ENG	SPTBN1	FARSB	MYH11	PKD1	TGFB2	FOXE3	GAA	DNAJB11	ANGPTL6	PRKG1	IPO8	NF1	PKD2	COL1A1	MYLK	ACTA2	COL3A1	STAT1	TONSL	TGFB3	ALG9	THSD1	HEY2	PCNT	TGFBR2	COL5A2	FBN1	BGN	MFAP5
HP_ARTERIOVENOUS_FISTULA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTERIOVENOUS_FISTULA	ENG	RASA1	COL1A1	AGGF1	EPHB4	GDF2	COL5A2	ACVRL1	SMAD4	COL3A1	COL5A1
HP_VASCULAR_TORTUOSITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VASCULAR_TORTUOSITY	MT-ND4L	SELENOI	FBLN5	SLC2A10	APP	MT-ND6	MT-ATP6	SMAD3	EFEMP2	MT-ND5	MT-ND1	TGFBR2	COL5A1	RASA1	MT-CO3	NT5E	TGFBR1	IDH1	DNAJC30	NEK1	MT-ND2	TGFB2	IPO8	ATP7A	MT-ND4	MT-CYB
HP_PERIPHERAL_ARTERIAL_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_ARTERIAL_STENOSIS	LDLRAP1	IDS	ABCG8	MYLK	AGXT	MPL	TGFBR1	LOX	ACTA2	SMAD3	PCSK9	THPO	MAT2A	TGFB3	ELN	SMAD4	LDLR	HEY2	SMAD2	ABCC6	TGFBR2	LMNA	MYH11	FBN1	TGFB2	FOXE3	APOE	APOB	PRKG1	ABCG5	MFAP5	JAK2
HP_THORACIC_AORTA_CALCIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACIC_AORTA_CALCIFICATION	NKX2-5	IFIH1	SMAD6	NOTCH1	GATA5
HP_CALCIFICATION_OF_THE_AORTA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALCIFICATION_OF_THE_AORTA	LDLRAP1	ABCG8	ABCC6	NKX2-5	RNASEH2B	SMAD6	SLC34A2	RNASEH2A	GBA	NOTCH1	GATA5	PCSK9	TREX1	RNASEH2C	ENPP1	IFIH1	ADAR	APOB	LDLR	ABCG5	SAMHD1
HP_PERIPHERAL_PULMONARY_ARTERY_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_PULMONARY_ARTERY_STENOSIS	MGP	JAG1	ELN	TTC37	EFEMP2	MLXIPL	GTF2IRD2	FKBP6	FBLN5	STX1A	PIGO	ALDH18A1	NOTCH2	SKIV2L	PIGL	FGFR1	IFT43	VPS37D	BAZ1B	PPP1CB	PIGN	TAOK1	BCL7B	TMEM270	GTF2I	BCOR	CCNQ	NCF1	METTL27	TBL2	CLIP2	RFC2	BUD23	GTF2IRD1	LIMK1	UBE2A	LTBP1	EIF4H	DNAJC30
HP_ASCENDING_TUBULAR_AORTA_ANEURYSM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASCENDING_TUBULAR_AORTA_ANEURYSM	MED12	TGFBR2	B3GALT6	FMR1	BRF1	MYH11	FBN1	FBLN5	ZMPSTE24	NODAL	LMNA	MLX	ACTA2	HLA-B	IL12B	SMAD3	TGFB2	IPO8	COL3A1
HP_PULMONARY_ARTERY_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_ARTERY_HYPOPLASIA	MMP21	MGP	AASS	MYH7	TRAIP	NKX2-6	PLXND1
HP_ELEVATED_MEAN_ARTERIAL_PRESSURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_MEAN_ARTERIAL_PRESSURE	AGTR1	ADD1	PTGIS	AGT	ECE1	NOS3	CYP3A5	GNB3
HP_ERLENMEYER_FLASK_DEFORMITY_OF_THE_FEMURS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERLENMEYER_FLASK_DEFORMITY_OF_THE_FEMURS	TCIRG1	GBA	ABCC9	PSAP	PLEKHM1	CLCN7	ANKH
HP_KNEE_DISLOCATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KNEE_DISLOCATION	FLNB	TTC26	CHST3	SLC35A3	XYLT1	EXOC6B	AEBP1	RYR1	SLC10A7	B3GAT3
HP_METAPHYSEAL_SCLEROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METAPHYSEAL_SCLEROSIS	COL2A1	KIF22	CTC1	RECQL4	CENPE	SRP54	ANAPC1	ACP5	MMP13	DNAJC21	SBDS
HP_RHIZOMELIC_ARM_SHORTENING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RHIZOMELIC_ARM_SHORTENING	KIAA0586	MYSM1	GPX4	CSPP1	SLC26A2	FZD2	DYM
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	CHST3	KIF22	HS2ST1	IFT140	CANT1	TRAPPC2	COMP	SMARCAL1	PLOD3	CDC6	PIK3C2A	EXTL3	DYM	COL11A2	MATN3	COL2A1	ADAMTSL2
HP_DIAPHYSEAL_THICKENING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIAPHYSEAL_THICKENING	IDS	SHOX	SOST	PTDSS1	SLC35D1	LRP4	LRP5	LBR	RMRP	IDUA	INPPL1	TBXAS1	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	TRPV4	ARSL	KCNH1	NOG	PIGF	FIG4	SOX9	VAC14
HP_PROXIMAL_RADIO_ULNAR_SYNOSTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_RADIO_ULNAR_SYNOSTOSIS	FGFR2	TWIST1	FGFR3	CHSY1	B3GALT6	HOXA11
HP_IRREGULAR_CAPITAL_FEMORAL_EPIPHYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRREGULAR_CAPITAL_FEMORAL_EPIPHYSIS	UFSP2	PEX5	ADAMTSL2	COL9A1	RNU4ATAC
HP_SYNOSTOSIS_OF_CARPAL_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNOSTOSIS_OF_CARPAL_BONES	FLNA	BMPR1B	EVC	MACROH2A1	BHLHA9	PITX1	SALL4	ESCO2	NOG	NXN	PAX3	EVC2	APC	GLI1	MAP3K7	ROR2	FGFR2	GDF5	DYNC2LI1	LRP4	SMOC1	HOXA13
HP_METAPHYSEAL_SPURS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METAPHYSEAL_SPURS	DLK1	RTL1	MATN3	PCYT1A	ATP7A	MEG3	TRAPPC2	COL2A1	DYNC2H1
HP_HYPEREXTENSIBILITY_AT_WRISTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPEREXTENSIBILITY_AT_WRISTS	COL6A3	COL6A1	COL6A2	RNF13	PYCR2	COL12A1
HP_KNEE_OSTEOARTHRITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KNEE_OSTEOARTHRITIS	STAT4	COL9A2	IL2RA	COL2A1	TRAPPC2	PTPN22	ANKRD55	CD247	PTPN2	MMP13	SMAD3	IL2RB
HP_ABNORMAL_METAPHYSEAL_TRABECULATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_METAPHYSEAL_TRABECULATION	TNFRSF11A	LIFR	DKC1	AMER1	PLCB3	TINF2	NOP10	WRAP53	NPM1	TRPV4	TCIRG1	TERT	CTC1	TNFRSF11B	USB1	VDR	NOTCH2	TERC	SLC29A3	NHP2	PARN	PORCN	RTEL1
HP_HIGH_FREQUENCY_HEARING_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_FREQUENCY_HEARING_IMPAIRMENT	LMX1A	SMPX	DSPP	MYH9	AP1S2	GJB3	RPGR
HP_ABNORMALITY_OF_THE_VERTEBRAL_ENDPLATES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_VERTEBRAL_ENDPLATES	CHST3	KIF22	RNU4ATAC	TNFRSF11A	SOST	ZBTB20	PAPSS2	COL10A1	EXOC6B	TRAPPC2	ENPP1	PDE4D	COL9A2	CCN6	TONSL	COL9A1	COL11A1	CLCN7	GNPAT	LOXL3	TCIRG1	SLC10A7	DMP1	NANS	COL2A1	B3GALT6	GORAB	ACP5	SLC29A3	IDH1	FN1	COL9A3	EIF2AK3	DYM	COMP	SLC39A13	MMP13	POLR3A
HP_ABNORMAL_SACRUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SACRUM_MORPHOLOGY	KCNK9	APC2	AFF3	PIGG	MLXIPL	LIFR	DCHS1	CPLX1	FGFRL1	ENPP1	RTTN	ROR2	FLNB	KANSL1	ANK1	DYRK1A	MNX1	ELN	ASXL1	FUZ	FGFR3	USP9X	TMEM270	GTF2I	NCF1	CTCF	CTBP1	RFC2	NCAPG2	ERF	PTH1R	FGF20	LIMK1	NODAL	KMT2A	EIF4H	HNRNPK	TWIST2	NELFA	GREB1L	RUNX2	PSMD12	LIG4	HCCS	TNFRSF1A	PRR12	TBXT	FKBP6	ODC1	PAM16	LETM1	STX1A	HLA-B	VANGL1	DVL3	TAF1	BAZ1B	GDF3	RAB23	GDF6	RPS19	RPL10	NSD2	DMP1	NOTCH3	FANCB	PHEX	NADSYN1	HOXD13	BUD23	COL2A1	PAFAH1B1	LBR	RMRP	CDK10	HIC1	TBX6	DNAJC30	NSD1	ZNF699	TBX4	RET	CD96	GTF2IRD2	FZD2	PDGFRB	SRD5A3	SPOP	VPS37D	POC1A	SETD2	MEOX1	COLEC10	WNT5A	FANCF	SHANK3	BCL7B	MED12	WNT9B	VANGL2	CCL2	WNT7A	DHPS	BMPER	ITGA8	B9D2	HAAO	KIF15	HOXA13	EBP	SETD5	FUCA1	SETBP1	COX7B	B3GLCT	FGFR2	SLC26A2	NSUN2	GNB2	YWHAE	ARID1B	NXN	DEAF1	NDUFB11	METTL27	TBL2	CLIP2	OTUD6B	EXTL3	GTF2IRD1	TMCO1	ZIC3	FAT4	DVL1	SUGCT	CAPN15	MASP1	AEBP1
HP_ABNORMAL_INTERVERTEBRAL_DISK_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_INTERVERTEBRAL_DISK_MORPHOLOGY	CHST3	TP53RK	RIPPLY2	COL2A1	NUP133	OSGEP	TRAPPC2	SLC26A2	MT-TL1	PLCB3	MT-ATP8	WDR4	TPRKB	TRPV4	SMAD3	XYLT2	WDR73	MESP2	HGD	PPP1CB	ANKH	HOXD13	COL9A1	TNFRSF11B	HES7	LMNA	EXTL3	RRM2B	ACP5	LFNG	LTBP3	FN1	LAGE3	SHOC2	RNU4ATAC	NUP107	MATN3	NT5E	DLL3
HP_ABNORMALITY_OF_THE_ACHILLES_TENDON	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ACHILLES_TENDON	COL12A1	SLC25A4	CRPPA	ALS2	ADAT3	PYROXD1	TMEM43	MT-TE	POMT1	PLEC	SGCG	NSUN2	LMNA	OPA1	ARL6IP1	ACTA1	HRAS	MYOT	FKRP	FHL1	KY	PRKCG	FKTN	NGLY1	LARGE1	HGD	TFG	GAN	TTN	ABHD12	SYNE1	BICD2	SGCA	EMD	LMX1B	JAG2	KL	COL6A1	CYP27A1	POU3F4	GJB1	SYNE2	KRT1	COL6A2	COL6A3	PTRH2	HINT1	ZC4H2
HP_ABDOMINAL_AORTIC_ANEURYSM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABDOMINAL_AORTIC_ANEURYSM	PTPN22	NSMCE2	MYLK	P4HA2	TGFBR1	HLA-DRB1	LOX	ACTA2	SMAD3	MAT2A	TGFB3	SMAD4	ELN	HLA-B	HEY2	SMAD2	TGFBR2	PRKG1	MYH11	FBN1	TGFB2	FOXE3	MFAP5
HP_AORTIC_ARCH_ANEURYSM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AORTIC_ARCH_ANEURYSM	MLXIPL	GTF2IRD2	FKBP6	PDPN	NKX2-5	PRKCZ	HSPG2	STX1A	SPEN	LOX	PRDM16	RERE	CHD7	GABRD	SKI	KCNAB2	VPS37D	BAZ1B	UBE4B	ELN	SEMA3E	BCL7B	TMEM270	GTF2I	CASZ1	LUZP1	NCF1	METTL27	TBL2	CLIP2	KCNH1	RFC2	TGFBR2	SMAD6	BUD23	NOTCH1	GTF2IRD1	GATA5	LIMK1	EIF4H	DNAJC30	MMP23B
HP_SUPRAVENTRICULAR_ARRHYTHMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPRAVENTRICULAR_ARRHYTHMIA	SCN5A	FLNC	DMPK	ABCC9	MYPN	TMEM43	COL4A1	PRKAG2	GATA5	SCN1B	TNNT2	TBX20	GNB2	SCN4B	MYOZ2	LMNA	RRM2B	SLC4A3	NPPA	CAVIN1	GJA5	MT-CYB	SEMA3A	AKAP9	NODAL	NUP155	KCNJ2	LRP12	SCN10A	NKX2-5	CASQ2	CACNA2D1	EMD	KCNQ1	PKP2	CDH23	ACTN2	TTN	HCN4	PLN	TRDN	TWNK	KCND3	CITED2	ANK2	RYR1	SCN2B	SYNE2	KIF20A	KCNJ5	TLL1	POLG	SMAD3	MYH6	NEXN	ACTC1	GATAD1	TRPM4	SGO1	DNMT3A	TTR	TNNI3	RYR2	KCNE2	CACNB2	KCNA5	FLAD1	GATA6	BMP2	KCNH2	MYL4	CACNA1C	SCN3B	KCNE3	FHL1	GPD1L	CACNA1S	SCNN1A	TNNC1	MYH7	KCNE5	SLMAP	SYNE1	CLIC2	SLC25A4	GATA4	NAA10	MYL2	POLG2	SLC19A2	TAB2	TNNI3K	SPRED1	TBX5	DTNA	DES	MFAP5	XK	MT-ATP6	RANGRF	FHOD3	CSRP3	APRT	CIZ1	KCNJ8
HP_ELEVATED_DIASTOLIC_BLOOD_PRESSURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_DIASTOLIC_BLOOD_PRESSURE	KCNMB1	FLT1	AGTR1	ADD1	PTGIS	AGT	ECE1	NOS3	CORIN	CYP3A5	STOX1	GNB3
HP_ABNORMAL_CARDIAC_ATRIUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CARDIAC_ATRIUM_MORPHOLOGY	HYDIN	RERE	SMAD4	TGFB3	COMT	KAT6A	PRKACB	ZEB2	CCDC40	PLXND1	FLCN	EOGT	GATA1	SKIV2L	SRCAP	RAD51	GATA6	BRAF	SMG8	TNNT2	KANSL1	GATA4	TBX20	GPC3	COX7B	FGFR3	GTF2I	FANCC	NFE2L2	NCF1	ARSL	DNAAF2	LARP7	LMNB1	ROR2	TNNI3	GDF1	FBN2	YY1	SUCLG1	SOS1	EIF4H	PEX19	NELFA	MED12	RPL18	AMER1	FANCF	NKX2-5	CTU2	KATNB1	ERCC4	TTC26	GPC4	FANCD2	RBM10	LETM1	ODAD4	TUBG1	LRRC56	NR2F2	DSE	ARHGAP31	SCN5A	RSPH1	RSPRY1	TRIP4	SMARCA4	RPL10	PACS1	EVC2	SLC29A3	CHD7	OFD1	COL1A2	ESCO2	TLL1	STRADA	DEF6	CITED2	ACADVL	CRKL	FANCL	ADK	SMN1	DVL3	DNAH1	SMC3	TBX4	SEMA3E	CHST3	MID1	TSFM	PHGDH	CHD4	SLC25A24	SMC1A	SMARCB1	RARB	CPLX1	WDR35	BUB1B	MAD2L2	SDHD	MED13L	FANCA	BCL7B	FOXC1	CFAP300	CLCN3	RPL27	KIAA0586	ARID1A	TGFBR1	RIT1	HRAS	RSPH9	KDM6A	DYNC2LI1	DDX6	RPL35A	ABL1	RPS10	RPS26	TASP1	GJA1	TTC37	SOX11	MED25	ODAD3	TMEM94	STAT1	POLA1	AUTS2	SLC19A2	ARID1B	RPS15A	JAG1	SMARCE1	SMAD3	MEIS2	PIGN	NXN	DNAJB13	ZDHHC9	METTL27	RNU4ATAC	DHCR7	TGFBR2	NSD2	CREBBP	STAMBP	STAG2	CEP57	NPHP3	FANCB	TMCO1	FHOD3	NKX2-1	SNRPB	CDK13	FANCI	FIG4	PKDCC	DNMT3A	RPL15	MRPL3	MYPN	PIGF	ADAT3	VPS33B	LONP1	KAT6B	RAD21	CHRM3	PIK3R2	HCCS	GATA5	DNAH5	IFT172	FGFR2	TRRAP	ELN	ASXL1	RPS17	USP9X	DNAAF11	TBX1	C2CD3	SPAG1	ODAD1	RFC2	FKTN	NODAL	SYT1	PIEZO1	SMARCA2	ZMPSTE24	TKT	COL1A1	UBE3B	SIK3	PRR12	DNAAF4	BICRA	FKBP6	BRD4	IRX5	NSD1	SMARCD1	SPATA5	CSGALNACT1	RPS19	SCN1B	CCDC65	PAX3	TGDS	SON	CTBP1	BUD23	ATP6V1A	NONO	WDR37	MYOCD	RAD51C	CDK10	FANCE	DNAJC30	MCM10	ACTC1	TRAIP	GLI3	PCNT	EVC	BMPR1A	SIAH1	COL11A1	RPS24	HNRNPH2	ASCC1	VPS37D	ECE1	PPP1CB	EP300	GAS2L2	ADA2	MKKS	IGF1R	COG6	BUB1	ODAD2	RPL3L	SALL1	PTF1A	STK4	KIF11	MMP21	TMEM260	TRIP13	PGAP1	NAA10	PIGO	DLK1	CACNA1D	BRCA2	XRCC2	HNRNPK	TBX2	THOC6	UQCRC2	OTUD6B	GP1BB	FLNC	AGO2	AGGF1	AFF4	CDK8	BRCA1	PQBP1	NDE1	CFAP221	BCOR	AMMECR1	GNPTAB	MOGS	PIGG	MLXIPL	ZMYND10	DRC1	HDAC8	RAI1	KRAS	FLNB	ABCD4	ARID2	MYL2	RIPK4	SNRPN	CPE	CTCF	FBXW11	TTC12	SPECC1L	LIMK1	MEGF8	VPS33A	HSPA9	RPS7	TALDO1	UMPS	NIPA1	CFAP298	VAC14	TBX22	FGF13	KMT2D	INSR	ALG12	BBS2	TBC1D24	RPS28	GAS8	PTEN	NF1	RPL35	DNAAF3	EIF2AK3	LZTR1	BMP2	ARVCF	LMNA	RPL5	SCUBE3	KIF20A	GLI1	CUL3	UFD1	SALL4	KDM5B	CCBE1	IDH1	RPS27	SPEF2	ZNF699	PIGT	SLC35A2	GPX4	SOX4	DNAI1	METTL5	RSPH3	HIRA	NOTCH2	MCIDAS	PALB2	MYRF	FGFR1	SETD2	SMARCC2	SHOC2	CACNA1C	RPS20	CEP290	ATP6V1E1	B3GALT6	WASHC5	MYL3	FANCG	RAC1	FOXF1	MYH6	UBR7	HAAO	CDC45	KIF15	TXNL4A	DNAAF1	XYLT2	MAP3K7	EPHB4	DACT1	RAF1	UBR1	MAPK1	UPF3B	SEC24C	BUB3	TBL2	NOTCH1	ZIC3	LTBP4	MASP1	WT1	DNAAF6	RTL1	FANCM	APC2	POR	PKD1L1	FGFRL1	G6PC3	ROBO4	ANK1	EFTUD2	STK36	NIPBL	NFIX	MAP2K1	TMEM270	BRIP1	DNAL1	CCDC39	NCAPG2	CCNO	PPP2R5D	DPF2	GNB5	KDM1A	GPC6	B3GAT3	FOXJ1	SLX4	EXT2	STX1A	DNAAF5	NIPA2	RPGR	RSPH4A	CCDC22	ASXL2	BAZ1B	NDUFB11	MEG3	DNAH9	RAB23	RPL11	MRAS	UBE2A	RPL26	DNAI2	SNX14	JMJD1C	PLD1	BCR	GTF2IRD2	KAT8	PCGF2	NEK9	MTX2	SH2B1	UBE2T	PTPN11	DPH1	NKX2-6	STRA6	NKAP	CCDC103	CHST14	BANF1	GYS1	CFC1	MAP2K2	MYH7	RELN	MMP2	IPO8	CFAP45	ZMYM2	RPL31	NEK10	PIGA	SHMT2	SETBP1	CARS1	RFWD3	TBX5	RPS29	MMP14	ATIC	B3GLCT	FTCD	SETD1A	NEK1	TSR2	PPP1R21	ALG9	RREB1	CLIP2	DNAH11	SH3PXD2B	GTF2IRD1	NME8	MAGEL2	RBM8A
HP_RIGHT_VENTRICULAR_DILATATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIGHT_VENTRICULAR_DILATATION	TBX20	ALG9	TRAPPC11	GATA4	CITED2	TLL1	SGCG	MYH6	ACTC1	IPO8	GATA6	CDH2	NKX2-5
HP_ABNORMAL_T_WAVE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_T_WAVE	SCN5A	NOS1AP	SCN4B	MYL2	SLC12A3	SCN10A	GYG1	ATP1A2	KCNJ2	KCNJ5	DCAF17	CALM2	KCNH2	CAV3	KCNQ1	AKAP9	TBX5	JUP	KCNE2	CALM3	CALM1	MYL3	ANK2	ATP1A3	BRF1	MECP2	CLCNKB	RYR1	CACNA1A	KCNE1	CACNA1C	SLC1A3	TRDN	SNTA1
HP_VENTRICULAR_SEPTAL_HYPERTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENTRICULAR_SEPTAL_HYPERTROPHY	SYNE1	BSCL2	MYBPC3	MYL2	GLA	MTFMT	MYPN	LEMD2	GYG1
HP_CORONARY_ARTERY_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORONARY_ARTERY_STENOSIS	YY1AP1	ABCA1	ELN	MLXIPL	DYRK1B	PNPLA2
HP_CARDIAC_VALVE_CALCIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIAC_VALVE_CALCIFICATION	HGD	GBA	NKX2-5	SMAD6	LMNA	SLC34A2	MTX2	NOTCH1	GATA5	ZMPSTE24	IFIH1	FBN1
HP_ABNORMAL_ATRIOVENTRICULAR_CONDUCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ATRIOVENTRICULAR_CONDUCTION	GABRA3	AGXT	DMPK	ABCC9	MYBPC3	TMEM43	SCN1B	TBX20	GNB2	SCN4B	LMNA	SLC4A3	DES	MT-CYB	SEMA3A	NPPA	AKAP9	SDHB	SDHA	KCNJ2	CACNA1S	SCN10A	NKX2-5	CASQ2	CACNA2D1	EMD	KCNQ1	TTR	PKP2	GJA5	ACTN2	GPD1L	RNASEH1	TTN	TRDN	MT-TL1	KCND3	CITED2	SYNE2	CALM3	SCN5A	KCNJ5	CALM1	RRM2B	DEF6	ACADVL	PRKAG2	TRPM4	MYH6	ACTC1	PRKG2	PTPN11	SCN2B	RYR2	CACNB2	MT-ATP8	GATA6	CACNA1D	KCNH2	CACNA1C	SCN3B	KCNE3	FHL1	KCNJ18	SCNN1A	KCNE5	MMP2	SLMAP	SYNE1	GATA4	SLC25A20	TBX5	GPX4	BVES	MMP14	SDHAF1	TLL1	HCN4	GJA1	SDHD	GLA	RANGRF	KCNJ8
HP_VENTRICULAR_ESCAPE_RHYTHM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENTRICULAR_ESCAPE_RHYTHM	GNB5	SYNE2	FHL1	GJA5	SCN5A	LMNA	TMEM43	NPPA	EMD	SYNE1
HP_CONCENTRIC_HYPERTROPHIC_CARDIOMYOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONCENTRIC_HYPERTROPHIC_CARDIOMYOPATHY	TSFM	CLN3	MT-CO1	MT-TF	MT-ND6	MT-ND1	MT-ND4	NDUFS4	MT-CO2	MT-TH	MT-ND5	FHOD3	MT-TS2	MT-TQ	DES	MT-TW	MT-CO3	MT-TL1
HP_TOTAL_ANOMALOUS_PULMONARY_VENOUS_RETURN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TOTAL_ANOMALOUS_PULMONARY_VENOUS_RETURN	MMP21	GPC4	GDF1	TUBG1	NIPA2	NODAL	RPS15A	DHCR24	WT1	GPC3	CDC42	NIPA1
HP_ABNORMAL_LEFT_VENTRICULAR_FUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LEFT_VENTRICULAR_FUNCTION	FLNC	MT-TW	MT-TF	TGFBR1	MYPN	LOX	MT-CO2	MAT2A	TNNT2	TBX20	ELN	MT-TL1	RRM2B	MT-ND5	ABCC6	MT-TV	MT-TC	DYSF	MYH11	NPPA	GDF1	SDHB	EYA4	SDHA	PPCS	APOB	PRKG1	NKX2-5	LDLRAP1	TOP3A	TTN	ACTA2	LDB3	TWNK	MYH7	ZMPSTE24	MT-CO1	CITED2	OTUD5	KIF20A	FKRP	TGFBR2	POLG	LAMA2	LMNA	SLC6A6	FBN1	MT-CYB	MYH6	ACTC1	ENPP1	ABCG5	MFAP5	ABCG8	GAA	TTR	TNNI3	VHL	SMAD3	POMT2	PRDM16	SMAD4	SCN5A	LDLR	SGCG	GATA6	SDHD	ACADVL	B2M	SMAD2	COA6	MT-ND6	TGFB2	FOXE3	RPL3L	POMT1	MT-CO3	MT-TS2	MYLK	SLC25A4	GATA4	POLG2	PCSK9	TAB2	TGFB3	SDHAF1	GTPBP3	MT-TQ	TLL1	HEY2	MT-TK	MT-ND1	FHOD3
HP_SHORTENED_PR_INTERVAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORTENED_PR_INTERVAL	PRKAG2	GABRA3	GAA	MT-CYB	TRPM4	CACNA1S	KCNJ18
HP_PREMATURE_ARTERIOSCLEROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_ARTERIOSCLEROSIS	LDLRAP1	PCSK9	ABCG8	APOB	LDLR	LMNA	ABCG5	WRN
HP_PREMATURE_CORONARY_ARTERY_ATHEROSCLEROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_CORONARY_ARTERY_ATHEROSCLEROSIS	LDLRAP1	ABCA1	CEP19	ABCG8	ABCG5	PCSK9	LMNA	ERCC6	ERCC8	LIPC	APOA1	APOE	APOB	LDLR	CYP27A1	ACTA2
HP_PROLONGED_QTC_INTERVAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLONGED_QTC_INTERVAL	SCN5A	NOS1AP	SCN4B	SCN10A	KCNA5	KCNQ1	TNNI3K	KCNJ2	KCNJ5	CALM2	KCNH2	CAV3	AKAP9	TBX5	SNTA1	KCNE2	CALM3	CALM1	ANK2	MECP2	KCNE1	TANGO2	CACNA1C	SVIL	TRDN
HP_SYNOVIAL_HYPERTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNOVIAL_HYPERTROPHY	IL2RA	STAT4	PRG4	PTPN22	IL2RB	CD247	ANKRD55	PTPN2
HP_POLYARTICULAR_ARTHROPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYARTICULAR_ARTHROPATHY	DMP1	PIK3CD	NLRP1	PTPN22	NFKBIL1	TNFAIP3	STAT3	CD244	ENPP1	CIITA	TNFRSF1A	CCN6	NLRP3	IL36RN	MEFV	NOD2	SLC22A4	IL10
HP_HELICOBACTER_PYLORI_INFECTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HELICOBACTER_PYLORI_INFECTION	FLT1	IFNGR1	CARMIL2	CORIN	STOX1
HP_PANCREATIC_PSEUDOCYST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATIC_PSEUDOCYST	PRSS1	PRSS2	CFTR	CTRC	SPINK1
HP_SECRETORY_DIARRHEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SECRETORY_DIARRHEA	SLCO2A1	PLVAP	STX3	SPINT2	UNC45A	FOXP3	EPCAM	NLRC4	DEF6	SLC9A3
HP_PANCREATIC_CALCIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATIC_CALCIFICATION	CTRC	ABCC6	CASR	SPINK1	PRSS2	PRSS1	CFTR	CPA1	ENPP1
HP_IMPAIRED_MASTICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_MASTICATION	GRIN1	PTPN22	SELENON	IDS	ITGA7	HLA-DRB1	ADNP	ALS2	LAMB2	PYROXD1	KANSL1	ADSS1	IRF6	FGFR1	HLA-B	AXIN2	EDARADD	LPIN1	HACD1	MSX1	PPP2R5D	TUBB3	MT-CO1	TGFA	MTRFR	TP63	TPM2	FARS2	P4HA2	WNT10A	MYL2	LRP6	MAP3K20	GNAI3	WNT10B	PAX9	COLQ	TPM3	EDA	ACTA1	LAMA2	MT-CO3	PYGM	NECTIN1	SUMO1
HP_ANOPERINEAL_FISTULA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANOPERINEAL_FISTULA	KDM6A	TGFB1	KMT2D	PKP1	SYK
HP_BOWEL_DIVERTICULOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BOWEL_DIVERTICULOSIS	ELN	COL5A1	EFEMP2	MLXIPL	GTF2IRD2	FKBP6	FBLN5	STX1A	ALDH18A1	PTEN	VPS37D	AKT1	MSH2	BAZ1B	UBR1	PIK3CA	BCL7B	TMEM270	GTF2I	NCF1	METTL27	TBL2	CLIP2	RFC2	ERBB3	BUD23	GTF2IRD1	LIMK1	PKD1	MLH1	LTBP1	EIF4H	RET	DNAJC30
HP_RECTAL_ABSCESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECTAL_ABSCESS	CYBA	NCF2	ITGB2	NCF1	CYBB	RAC2	VANGL1	TTC7A
HP_ADENOMATOUS_COLONIC_POLYPOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADENOMATOUS_COLONIC_POLYPOSIS	APC	BMPR1A	SMAD4	MUTYH	RNF43	PTEN	ENG	POLE	POLD1	PMS2	NTHL1	AXIN2	MSH3	MLH1	GREM1
HP_GASTROINTESTINAL_INFARCTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROINTESTINAL_INFARCTIONS	PTPN22	B2M	P4HA2	STK11	HLA-DRB1	F5	JAK2	TEK	MEFV	MLX	HLA-B	IL12B	CALR	COL3A1
HP_INTESTINAL_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTESTINAL_HYPOPLASIA	MYH11	ACTG2	NUP88	MYLK	DOK7	RAPSN	MUSK	FLNA	CLMP	ZMPSTE24	SOX10	LMNA	LMOD1	SLC18A3	GATA6	GUCY2C	MYOD1
HP_FUNCTIONAL_INTESTINAL_OBSTRUCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FUNCTIONAL_INTESTINAL_OBSTRUCTION	PALB2	CDKN2A	KRAS	BRCA2	PALLD	SMAD4	RABL3	ERBB3	TP53	BRCA1
HP_THORACIC_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACIC_HYPOPLASIA	CANT1	DYNC2I1	DONSON	PRKACB	SOX9	IFT122	MTOR	ABCC9	INPPL1	FGFR3	KLHL41	CEP120	HSPG2	CTSK	MBTPS2	MATN3	IFT140	COL11A2	RUNX2	KBTBD13	PUF60	HSD17B4	INTU	XYLT1	TPM2	DYNC2H1	WDR19	COL2A1	DDR2	EVC2	LBR	GLI1	ACTG2	KAT6A	CASR	SLC26A2	CILK1	ATP7A	DYNC2I2	CHST3	GPX4	B4GALT7	SBDS	LMOD3	WDR35	IHH	TRPV6	SLC10A7	FBN1	CLCN7	COL1A1	MYOD1	KIAA0586	DYNC2LI1	DYNLT2B	FAM20C	IFT43	SRP54	PTH1R	FLNA	NEPRO	FLNB	UPF3B	TNFSF11	IFT81	POR	EVC	NAA10	SLC37A4	CSPP1	PIGN	MUSK	IFT52	NEB	TRIP11	BCOR	COL11A1	TPM3	TMCO1	FAT4	SNRPB	RTL1	DCHS1	GAD1	SLC35D1	HHAT	DDRGK1	FGFR2	TTC21B	KYNU	CCDC47	ACTA1	NEK9	IFT172	MYPN	B3GAT3	ADAMTS3	PIK3C2A	ZBTB20	PAM16	LMNA	PLCB3	TRPV4	MEG3	RPS19	IFT80	MIR140	RMRP	CRTAP	ITGA3	SLC9A6	SNX10	SEC23A	GNE	PCGF2	KCNJ8	CFL2	TCIRG1	TAPT1	DLK1	CCBE1	GBA	DNAJC21	COL1A2	AGRN	BMPER	CFAP410	ZC4H2	SKI	MESD	DLG3	ORC6	NEK1	PCNT	KIAA0753	SERPINH1	GNPTAB
HP_PECTORAL_MUSCLE_HYPOPLASIA_APLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PECTORAL_MUSCLE_HYPOPLASIA_APLASIA	PLXND1	REV3L	MYMK	TBX5	ALX1	TBX3	SALL4	ALX3
HP_JOINT_HEMORRHAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_HEMORRHAGE	VWF	F10	WAS	F7	SERPINF2	F11	F2	MCFD2	F5	F13A1	F8	GGCX	F9	PLAU	SERPINE1	LMAN1	F13B
HP_ABNORMALITY_OF_THE_SYNOVIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_SYNOVIA	ELN	EXOC6B	COLEC10	MYO9A	AGRN	ALDH18A1	RAD51	EXOSC3	LPIN2	HK1	COL1A2	COL6A1	SHH	RBM8A	AP4B1	IL6ST	KLHL41	FANCC	CEP120	HSPG2	EBP	COL6A2	TGIF1	TOR1A	FANCF	ERCC4	FANCD2	MMP2	SLC25A1	SERPINF1	FBLN5	PTPN22	DYNC2H1	ZMPSTE24	CDON	EXT2	CHRNG	KANSL1	FOXH1	TBCD	DDR2	FGF8	FGFR1	BICD2	COL2A1	MYO18B	COLEC11	FANCL	LMNA	LTBP1	ARNT2	COL5A2	SLC6A9	SMAD3	LARGE1	F8	TDGF1	HOXA11	SMC3	TBX4	COL9A3	CHST3	CHD4	ITGA7	RYR1	FUT8	SMARCAL1	AEBP1	LMOD3	COL10A1	ATP6V1A	MAD2L2	FANCA	STIL	AP4S1	CLCN3	WNT7A	SIX3	KDM6A	COL6A3	SMOC1	ECEL1	MYH7	CD96	NEPRO	PTCH1	HACE1	GJA1	FLNA	ZIC2	POR	CCN6	TONSL	TELO2	AP4E1	MAP3K20	CSPP1	OBSL1	DISP1	FBLN1	GATA1	POMT1	RNU4ATAC	LMNB2	IFT52	DHCR7	TGFBR2	NSD2	ACTA1	GNPTAB	PTRH2	FANCB	DVL1	SNRPB	AKT1	ALG9	FANCI	SMC1A	PRG4	FIG4	ERGIC1	GPC3	SLC35A3	PLOD1	EFEMP2	COL1A1	LONP1	RAD21	CHRM3	GLI3	TMEM251	USP9X	SIL1	DHODH	IARS2	FKBP10	NGLY1	PTPN2	UBE3B	MYH8	KIF22	ATAD1	TPM2	BICRA	BRD4	SLC5A7	PIGL	SLC26A2	ATR	SELENON	CSGALNACT1	FGFR3	GAS1	TRPV4	AP3B1	COL13A1	WDR19	MKKS	RAD51C	FANCE	SLC2A10	NOD2	FLNB	GLRA1	EVC	DLL1	FLI1	NODAL	CLTCL1	SOX9	THRA	WNT5A	CFL2	KAT6B	HACD1	PTH1R	ADAMTS2	HYAL1	MASP1	OSGEP	CCDC8	ANKRD55	IL2RA	DSTYK	TFE3	EIF2AK3	ARSB	DYM	GPHN	PYCR1	AP4M1	ERCC1	IFIH1	ATP6V0A2	IL2RB	BRCA2	XRCC2	WDR35	KIAA0753	CENPJ	AFF4	RECQL4	YWHAE	BRCA1	LRP4	PYCR2	FBN1	OCRL	CANT1	FKRP	RINT1	DYNC2I1	HDAC8	COMP	TRIM8	BRAF	MCTP2	SLC6A5	APC	ABCC6	EIF4A3	CTBP1	STAG2	MBTPS2	TMEM67	GLB1	COL12A1	VAC14	PUF60	BGN	XYLT1	KMT2D	EXT1	ZNF469	GLRB	TPM3	PPP2R5D	GLI2	SNAP25	GORAB	VPS33A	SYT2	GPX4	FZD2	POLR1A	PALB2	POMT2	INPPL1	CHAT	FHL1	TBX15	COG1	NANS	B3GALT6	FANCG	CD247	EYA1	GUSB	CUL7	ZNF407	MAP3K7	GDF5	GSC	MYL2	GNB2	MATN3	PORCN	NEB	PAFAH1B1	NSDHL	UFSP2	SLC12A2	TIMM22	MYH3	FANCM	AFF3	CPLX1	FGFRL1	THOC2	RPS15A	NIPBL	KIAA0586	CCDC47	BRIP1	VAMP1	GMPPB	TRIP11	B3GAT3	OFD1	SLX4	DNAJC21	DVL3	AARS1	RAB23	COL3A1	SMO	SLC18A3	MIR140	INPP5K	ADAMTSL2	EVC2	CRTAP	ENPP1	TNNT3	SHROOM4	COX8A	SIX1	UBE2T	PTPN11	LETM1	MAP2K1	ATP6V1E1	SLC35D1	ATP7A	GEMIN4	C12orf57	SLC35A2	PTEN	SEC31A	TGFB2	IPO8	GPC4	COL5A1	ZC4H2	POLR3A	FGFR2	HFE	TRAPPC12	SF3B4	RFWD3	DPYSL5	STAT4	PIEZO2	EXTL3	NFIX
HP_GASTRITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTRITIS	IGKC	CARD8	FASLG	AIRE	TTC37	IGHG2	FAS	RASGRP1	DEF6	SKIV2L	RIPK1	NFKB1	CTLA4	LRBA	FOXP3	IPO8	PRKCD	CDH1	SYK	CASP10
HP_ABNORMALITY_OF_THE_GALLBLADDER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_GALLBLADDER	AIRE	PIGG	DMPK	MLXIPL	STK11	COMT	DHCR7	ASXL1	UQCRFS1	HBB	GATA6	BLVRA	EPB42	SMPD1	GBA	ABCB4	SPECC1L	SLC4A1	PKLR	SEC23B	PFKM	VPS4A	ELN	CCDC47	TMEM270	GTF2I	TBX1	NCF1	ALAS2	RFC2	BPGM	SEMA4D	LIMK1	ARSA	EIF4H	PEX19	CYP27A1	TCF4	GYPC	NELFA	PIEZO1	GNE	PNPLA2	IGKC	NR1H4	INTU	KDM5C	KCNN4	FKBP6	LETM1	SCNN1A	STX1A	TPI1	ALDOA	GDF2	ABCB11	BAZ1B	SCNN1G	NSD2	ATP8B1	SON	UROS	ARVCF	ANK1	IGHG2	CTBP1	HOXD13	BUD23	UFD1	JAK2	SPTA1	DNAJC30	SMAD4	SPTB	CNOT1	JMJD1C	PSAP	RFX6	GTF2IRD2	SC5D	HIRA	GPI	VPS37D	CPLX1	CALR	GPR35	CYP7A1	BCL7B	MST1	AMACR	FOXF1	TFE3	ACVRL1	MECP2	SCNN1B	FECH	MED25	PKHD1	ABCG8	B3GLCT	FUCA1	HK1	ENG	SEC24C	RREB1	METTL27	GCGR	TBL2	CLIP2	F5	GP1BB	GTF2IRD1	EPB41
HP_ABNORMAL_JEJUNUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_JEJUNUM_MORPHOLOGY	MIR17HG	RFX6	MYCN	ZNF699	CENPF	PPP1R12A	TTC7A
HP_INTESTINAL_POLYP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTESTINAL_POLYP	APC	SEC23B	BMPR1A	GNAS	SDHD	SUFU	POLE	ERBB2	FLCN	PTEN	RNF43	MSH6	MTOR	AKT1	POLD1	KEAP1	SDHC	PDGFRA	ERBB3	BUB1B	SMAD4	PTCH1	MLH3	NRTN	PMS2	NTHL1	TGFBR2	AXIN2	BUB1	MLH1	ACVRL1	FAN1	ATP7A	ECE1	CDKN2A	MSH2	TP53	SMO	SREBF1	KRAS	TRIP13	PMS1	DICER1	PIK3CA	EPCAM	STK11	MUTYH	GDF2	CTNNB1	ENG	GDNF	CHEK2	SDHB	RET	SEMA3C	ABCD1	MDM2	BUB3	KLLN	CEP57	EDNRB	MSH3	PTCH2	USF3	EDN3	SEMA3D	GREM1
HP_SPONTANEOUS_ABORTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPONTANEOUS_ABORTION	RTL1	MGP	ENG	MPL	HBB	CLN8	BIN1	DNM2	HTR1A	DLK1	THPO	RHAG	MYF6	SYCP3	REC114	FGA	RHD	MEG3	RHCE	SERPINC1	GPHN	FCGR3B	WRN	F2	ABCC6	ALB	HSPG2	C11orf80	F13A1	FGB	MTMR14	F12	RYR1	SERPINE1	FGG	ENPP1	ANXA5	XIST	F5	F13B	JAK2	HOXA13
HP_PROMINENT_NASAL_TIP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_NASAL_TIP	OBSL1	SPEN	BICRA	PRKACB	MED25	MADD	ZEB2	PCGF2	PDE4D	AUTS2	FLCN	PIGY	CHRNA7	CCDC8	SYT1	KCNJ6	CSGALNACT1	DPYD	WDR26
HP_DEPRESSED_NASAL_BRIDGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEPRESSED_NASAL_BRIDGE	RAF1	NTNG2	ZMIZ1	TBCE	ALX4	EED	CDKN1C	TRMT1	GATA1	CLCN4	TWIST2	XYLT1	BRAF	DPM1	COL1A2	GPC3	AMMECR1	HBB	PREPL	FGFR3	SCN2A	PEX3	PAX3	EBP	ROR2	DOCK3	DOCK6	RPS23	TRIP12	CDH2	SOS1	MED27	ZBTB24	HDAC4	AHDC1	RUNX2	RPL18	IDUA	CTU2	TTC26	GPC4	INTU	PITX2	COL2A1	LRP2	GTPBP2	FH	CANT1	FZD2	COL11A2	TWIST1	RSPRY1	SMARCA4	DDR2	CHD7	FTSJ1	OBSL1	ACTL6B	FGFR1	BBS7	EMC10	MADD	PCLO	MARS2	DPYSL5	SLC6A9	FRAS1	DVL3	TG	FOXG1	ERF	GNAO1	DUSP6	SMC3	TBX4	CHST3	SLC25A24	PTPN23	GNRHR	WAC	DICER1	EDA	GMNN	RHOBTB2	SMARCB1	MEG3	SMARCAL1	SLC1A4	FREM2	WDR35	MAPK8IP3	EFEMP2	KCNMA1	LARP7	MED13L	ARHGEF6	SMG9	ARID1A	SLC3A1	PEX6	RPL27	KIAA0586	IQSEC2	TONSL	KNSTRN	HRAS	FBXW11	WDFY3	IYD	PIK3C2A	TCF20	FAM20C	KREMEN1	RPL35A	TMEM107	BPTF	RPS10	SMOC1	PMM2	DYNC2I1	WDR26	RPS26	NIPBL	EDARADD	FLNA	NEPRO	PEX12	SOX11	UQCC2	IFT81	NSMF	ARSL	KCNA1	MED12	TMEM94	POR	PPM1B	PDE4D	SCYL2	ZNF711	ATRX	AGL	FGFR2	PRDM16	ARID1B	POGZ	RPS15A	FANCL	ZSWIM6	JAG1	CSPP1	SMARCE1	MTOR	BCORL1	NXN	POU1F1	RLIM	RAB3GAP1	HOXB1	SUFU	DLK1	ALDH6A1	IFT52	DHCR7	DIS3L2	RAB3GAP2	COL11A1	SLC45A1	CCDC32	DVL1	USP9X	AKT1	ALG9	TGIF1	MYT1L	PRMT7	PEX16	SMC1A	FAR1	TRIP11	SPEN	RPL15	TACR3	ADAT3	ASXL1	COL1A1	PIK3CD	LONP1	RTL1	RAD21	EEF1A2	PIK3R2	RERE	GNAS	EXTL3	PRKD1	GLI3	KYNU	TRRAP	SLC12A2	KCNH1	VARS1	DNMT3B	LBR	UBR7	COG8	KMT2E	LIG4	DLG3	SIM1	ADAMTS3	UBE3B	BUB1B	MGP	RIPPLY2	PEX26	BICRA	PAM16	DOK7	BRD4	ELN	SMPD4	GRIA4	ADGRG6	HPDL	SMARCD1	TOE1	SPATA5	GLIS3	HELLS	CSGALNACT1	GLI2	RAI1	ETFB	SON	TSHB	FRMPD4	ZBTB18	SIK1	RAB39B	CDK10	LTBP3	GRM7	TCF7L2	DLL3	FLNB	PNKP	PUS7	SPATA5L1	DMXL2	BMPR1A	CD96	PEX14	FLII	RPS24	KISS1R	SYNCRIP	CCND2	PIGL	CASK	SPOP	AGTR2	SCN1B	SOX9	MAF	DEAF1	WNT5A	KIF11	CRLF1	IARS2	ADA2	FDFT1	AGO2	RPS19	NUP88	GBA	ZIC2	ADAMTS2	HYAL1	SEPTIN9	PIGT	DHCR24	RNF2	LINS1	SLC26A2	TFE3	EIF2AK3	PIGU	PEPD	NTNG1	CLIC2	KISS1	TAC3	ARSB	PGAP1	SPTBN1	B3GLCT	NAA10	SETD5	PSAT1	ACOX1	CNOT3	UBE2A	MAPRE2	YARS1	USP27X	DYNC2H1	TBX2	SOX5	STX16	GRIP1	KAT8	KCNE5	CEP57	SETD1A	ZNF81	ETFA	NAGA	KIAA0753	PAK3	MECP2	RPS6KA3	MYOD1	NFIX	GATAD2B	GNPTAB	KDM6B	KAT5	HDAC8	MLXIPL	AKT3	PLOD1	PURA	ARID2	NEUROD2	FGF17	NRAS	ETFDH	KDM4B	CNOT1	INPPL1	ZNF41	PSMD12	KCTD1	AIFM1	MED13	GDI1	SPRY4	NPR2	MEGF8	CAMKMT	GLB1	PRKAR1A	CLCN3	TFAP2A	RPS17	RPS7	ANTXR1	PROP1	HSD17B4	TMEM216	PEX7	PIGN	RPS28	PRKCZ	RAPSN	UGP2	PEX13	CDKL5	PTEN	NF1	RPL35	UBE4B	SEMA3E	MESP2	BMP2	ABCC9	RPL5	TNRC6B	WDR11	NEXMIF	SLC9A7	CDH11	CUL4B	HUWE1	CCBE1	CNKSR2	RPS27	DDB1	TANC2	NSMCE3	IFT74	TP63	GPX4	RALGAPA1	SOX4	KLHL7	DDX6	LHX4	TFAP2B	LHX3	CRIPT	BCAS3	KCNAB2	SMARCC2	EP300	GNPAT	CACNA1C	RPS20	ACSL4	PIGQ	DMD	CBL	PALS1	WASHC5	PAX1	PEX19	EYA1	LFNG	NBN	SP7	ACTL6A	MYMK	VANGL2	GPC6	MMP23B	SLC39A13	ARX	PITX1	SYP	PTH1R	PIK3CA	CUL7	SHOX	SOST	PDPN	AGA	MAP3K7	NSUN2	TSPAN7	GNB2	DUOXA2	MEF2C	STAG2	PROKR2	CDCA7	PIGG	FOXC1	TRIM37	HS2ST1	ANKRD17	PEX1	EXOSC1	ALG3	TRIM8	SRCAP	ADNP	HSPG2	IL1RAPL1	GAD1	B3GALT6	SIX2	GNS	ADAMTS10	FAT4	ANK1	PEX11B	SPECC1L	SATB1	DPYD	DPH1	MAP2K1	DYNC2LI1	RECQL4	RIPK4	NMNAT1	PEX10	DPF2	DYNC2I2	HTT	SUMF1	HECW2	B3GAT3	PEX5	MRPS14	TALDO1	CREBBP	ANKH	MID2	TUBB	SRD5A3	SCARF2	PIGY	PLCB3	KIAA1109	TRPV4	COL18A1	TAF1	RAB23	SHH	FGF8	RPL11	SMO	KRAS	MAN2B1	CASZ1	MIR140	ADAMTSL2	ARL3	HS6ST1	MTHFR	ALG13	GNRH1	MRAS	SLC18A3	RMRP	LMBRD2	RPL26	STEEP1	SNX14	SIN3A	MINPP1	P4HTM	SHROOM4	PROK2	CCDC22	SVBP	MTX2	GJA1	FOXL2	DUOX2	HESX1	SNAP29	GLUL	TAOK1	PEX2	LUZP1	TPO	MED12L	HES7	ZNF292	ASXL3	UPF3B	FBN1	WASF1	MAP2K2	KAT6B	SLC35C1	BMPER	IPO8	POLE	RPL31	EZH2	EDAR	PIGA	SETBP1	MUSK	PTCHD1	GABRD	SKI	RPS29	IFT80	SH3PXD2B	SLC5A5	TSR2	MDH1	PIGP	ACAN	MN1	WDR4	TRAPPC4	SLC25A22	METTL23	TRIO	JARID2	HCFC1
HP_ABNORMALITY_OF_THE_NASOLABIAL_REGION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_NASOLABIAL_REGION	ATP6V1E1	CHST14	MAN1B1	USP9X	DSE	ATP6V0A2	GNB2	NF1	TOR1A	SNRPN	MYBPC1	FOXP1	ATP6V1A	TNNI2
HP_VENOUS_INSUFFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENOUS_INSUFFICIENCY	TBX1	ENG	FLT4	COMT	SLC12A3	EPHB4	FIBP	COL3A1	HIRA	PTEN	FOXC2	G6PC3	GBA	NOTCH3	SMAD3	PIK3CA	SLC29A3	ARVCF	SEC24C	VHL	RREB1	PROC	NDP	RASA1	ATP7A	GJC2	GP1BB	UFD1	AGGF1	CLCNKB	GNAQ	PIEZO1	AEBP1	KIF5A	SMOC1	PROS1	JMJD1C
HP_ARTERIAL_DISSECTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTERIAL_DISSECTION	TGFBR2	COL5A2	COL1A1	PLOD1	SMAD3	COL3A1	COL5A1	TGFBR1
HP_CEREBRAL_VENOUS_THROMBOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_VENOUS_THROMBOSIS	PDE4D	SERPINC1	PRKAR1A	PROS1	MTHFR	F13A1	PGM1	F2	PROC	HABP2
HP_CAPILLARY_HEMANGIOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAPILLARY_HEMANGIOMA	PUF60	CD96	EP300	KRAS	FZD2	SEC23A	DHCR7	DIS3L2	POR	EIF2AK4	FGFR1	EPHB4	RECQL4	DVL3	MGAT2	GLI3	WNT5A	ESCO2	PTEN	RASA1	TBC1D24	HS2ST1	SRD5A3	KDR	CREBBP	EXTL3	VHL	FLT4	ANTXR1	DVL1	GNAQ	AKT1	ARL6IP6	CCND1	ATP6V1B2	OFD1
HP_INCREASED_PULMONARY_VASCULAR_RESISTANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_PULMONARY_VASCULAR_RESISTANCE	TBX20	SMAD9	KCNK3	GATA4	SLC34A2	BMPR2	CAV1	CITED2	MYH6	ACTC1	TLL1	GATA6	NKX2-5
HP_DISTURBANCE_OF_FACIAL_EXPRESSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTURBANCE_OF_FACIAL_EXPRESSION	IRF6	CACNA1A	TP63	EP300	GABRG2	SCN9A	PLPBP	SLC13A5	DNM2	ATXN8OS	KCNQ2	SCN1A	MECP2	CP	SCN1B	MTMR14	PRRT2	SCN2A	CREBBP	MSX1	PCDH19	PNKD	ALDH7A1	GABRA1	PANK2	NECTIN1	KCNQ3	ATP1A2	PDE2A	PMP22	GLI3	GATAD2B
HP_PROGEROID_FACIAL_APPEARANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGEROID_FACIAL_APPEARANCE	GJB2	MTX2	RNF113A	ERCC6	STUB1	KCNJ6	ERCC8	WRN	LMNA	GORAB	BANF1	ERCC4	LMNB2	ERCC3	ZMPSTE24	GJB6	ELN	PSMB8	B4GALT7	FBN1	POLR3A	ERCC1
HP_SPARSE_LATERAL_EYEBROW	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPARSE_LATERAL_EYEBROW	KAT5	WDR26	TBX3	MESD	IRX5	MAN1B1	KDM6A	KRT25	PURA	NSUN2	PPP1CB	LIPH	LPAR6	KMT2D	TRPS1	HEPHL1	NECTIN1	KRT71	COG6	HNRNPK	TWIST2	PQBP1	KRT74	EDARADD	LIG4	PIGK
HP_ABNORMALITY_OF_COMPLEMENT_SYSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_COMPLEMENT_SYSTEM	C4A	C8B	PACS1	GALK1	C5	CFI	SPP1	CFD	MASP2	PRKCD	C7	C1QA	CFHR1	C9	C1S	SLC7A7	DNASE1L3	LMNB2	IRAK1	C1QB	LMNA	CFP	C8A	CFH	C6	C4B	STAT4	C1QC	CFHR3	C3	CFB
HP_SPASTIC_HYPERACTIVE_BLADDER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTIC_HYPERACTIVE_BLADDER	DARS2	EIF4G1	VPS35	DNAJC13	GBA	GIGYF2	LRRK2	PLP1	KIF5A	SNCA
HP_HYPOPLASIA_OF_THE_BLADDER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_BLADDER	MKS1	ALG9	MBTPS2	MED12	GRIP1	WNT4
HP_ABNORMAL_CAROTID_ARTERY_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CAROTID_ARTERY_MORPHOLOGY	ABCG8	FANCM	NDE1	MLXIPL	GTF2IRD2	TGFBR1	HOXA1	LOX	TMEM67	SMAD3	PLXND1	RAD51	PALB2	MAT2A	VPS37D	PPARG	SMAD4	UBE2T	LDLR	ELN	NKX2-6	MAD2L2	FANCA	BCL7B	TMEM270	GTF2I	FANCC	SMAD2	BRIP1	NCF1	COL5A1	FANCG	RFC2	MYH11	LIMK1	EIF4H	TGFB2	FOXE3	ABCA1	APOB	PRKG1	IPO8	FANCF	NF1	ERCC4	LDLRAP1	SLX4	FANCD2	MYLK	FKBP6	LMX1B	ACTA2	STX1A	STAT1	PCSK9	ZMPSTE24	RFWD3	TGFB3	COL3A1	BAZ1B	HEY2	BRCA2	SON	THSD1	XRCC2	METTL27	TBL2	CLIP2	YY1AP1	TGFBR2	BUD23	GTF2IRD1	FANCB	FANCL	LMNA	RAD51C	FBN1	BRCA1	FANCE	AEBP1	DNAJC30	FANCI	ATP7A	SLC2A10	ABCG5	DCDC2	MFAP5
HP_ABNORMAL_VENA_CAVA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VENA_CAVA_MORPHOLOGY	HYDIN	ZMYND10	PRKACB	DRC1	RAI1	DNAI1	CCDC40	PLXND1	RSPH3	UQCRFS1	MCIDAS	SRCAP	DNAH5	SMG8	BAP1	PRKCD	STK36	NKX2-6	GAS2L2	CCDC103	DNAAF11	CFAP300	DNAAF2	SPAG1	ODAD1	DNAL1	FOXF1	TTC12	CCDC39	CCNO	RSPH9	ODAD2	CFAP298	MMP21	DNAAF1	FOXJ1	TMEM260	NEK10	DNAAF4	RBM10	KDM3B	MED25	ODAD3	ODAD4	DNAAF5	LRRC56	GAS8	RPGR	RSPH4A	GNB2	RSPH1	DNAAF3	DNAH9	ADH5	CCDC65	DNAJB13	SLC29A3	OFD1	DNAH11	NME8	UBE2A	DNAI2	WT1	CFAP221	SPEF2	ZNF699	FADD	DNAH1	DNAAF6	CWC27	MID1
HP_ABNORMAL_FACIAL_EXPRESSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FACIAL_EXPRESSION	FKTN	TPM2	POLG	PYROXD1	DLK1	GIPC1	RIPK4	DPM2	DNAJC6	PIEZO2	FA2H	RRM2B	KCNQ2	RYR1	SGCB	CP	HSPG2	PCDH19	GABRA1	TBP	LRP12	IRF6	JAM2	NEB	SCN9A	SLC16A2	TAFAZZIN	TWNK	TECPR2	PAX6	EBF3	KCNH1	ATP13A2	FKRP	SLC20A2	GMPPB	MECP2	CERT1	TPM3	TNPO2	LRRK2	CREBBP	SNCAIP	FTL	SLC18A2	LAMA2	DNAJC13	MYL1	SLC6A9	HPSE2	ATP7A	PURA	SYNJ1	GLE1	BCL11B	ITPR1	ITGA7	HLA-DQB1	EIF2AK2	TH	ACTA1	SNCA	ATXN8OS	UBA5	PDGFB	SCN1A	MTMR14	SCN2A	SLC6A8	KNSTRN	NOTCH2NLC	MSTO1	SLC6A3	TXNL4A	CACNA1A	TP63	SLC25A4	SLC39A14	MAPT	RTL1	POLG2	MYL2	PRNP	FRG1	DNMT3B	MAP3K20	HOXB1	POMT2	PRRT2	SMCHD1	ALDH7A1	PDE2A	TRIM32	ERGIC1	MYH3	CC2D1A	FBXO7	GABRG2	KDM6A	GFM2	CCDC174	PABPN1	PLA2G6	MRE11	KCNJ6	MEG3	ATP6AP2	MT-TT	PANK2	GLUD2	FMR1	ATP1A3	SPTBN4	POMT1	KCNQ3	PMP22	SLC30A10	MYH7	DNM2	GBA	STAC3	KLHL41	KCNK9	DUX4	PNKD	ATP6V1A	VAMP1	TK2	REV3L	NECTIN1	PODXL	ATP1A2	DMXL2	GLI3	PLAA	SELENON	NR4A2	PLPBP	ATXN2	SLC13A5	MYH2	ADH1C	VPS41	GIGYF2	UBA1	DNA2	EP300	KMT2D	UBE3A	SCN1B	PIK3CD	HACD1	MSX1	EIF4G1	VPS35	TANGO2	ASXL3	PDGFRB	SPR	DCTN1	PLXND1	SLC52A3	GATAD2B	LARGE1
HP_INSPIRATORY_STRIDOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INSPIRATORY_STRIDOR	SCN4A	SLC52A3	FUZ	KIF22	MIR140	SERPING1	IGHMBP2	PLP1	D2HGDH
HP_HYPOPLASIA_OF_THE_EPIGLOTTIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_EPIGLOTTIS	PRRX1	SETBP1	GLI3	NEK1	FGF10	SF3B4	FGFR3	FGFR2
HP_RECURRENT_HERPES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_HERPES	IGKC	FCGR3A	CIITA	IGHG2	BLM	CD247	MBL2	IL2RG	UNC119	WAS	REL	STAT1	CD3E	UNC93B1	RFX5	TPP2	RFXAP	RFXANK	CD3D	NFKB2	CASP8
HP_LACK_OF_T_CELL_FUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACK_OF_T_CELL_FUNCTION	RFX5	JAK3	ADA	RFXAP	CIITA	RFXANK	AK2
HP_DECREASED_SERUM_COMPLEMENT_FACTOR_I	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SERUM_COMPLEMENT_FACTOR_I	CFHR1	CFH	C1QC	CFHR3	C1QB	C1QA	CFI
HP_SEVERE_B_LYMPHOCYTOPENIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_B_LYMPHOCYTOPENIA	RAG1	DCLRE1C	NFKB2	ADA	RAG2
HP_ABNORMALITY_OF_HUMORAL_IMMUNITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_HUMORAL_IMMUNITY	CIITA	IFNGR1	TNPO3	FASLG	MOGS	SLC25A13	WAS	STING1	REL	ICOS	SKIV2L	RIPK1	MTOR	RTEL1	PIK3CD	CD19	JAK3	RFXANK	PRKCD	IKBKB	IL6ST	PIK3R1	STAT5B	RAG1	CD79A	ZBTB24	NFE2L2	CFHR1	AK2	TIMM8A	TNFRSF13B	KRT5	BLNK	DCLRE1C	TCF3	VPS33A	TCF4	TP53	RAC2	C6	MMEL1	PSMB8	LAMTOR2	ERCC3	PLCG2	CFB	IGKC	PGM3	MPLKIP	PSTPIP1	ALG12	AICDA	CARD10	GALK1	CDSN	SPP1	TNFRSF13C	CXCR4	CD3D	CD40LG	NFKB2	SLC26A9	RAG2	BACH2	IL12A	XIAP	CASP10	C1QA	PLA2G7	GTF2E2	ALB	IKBKG	CD247	TNFSF12	IRAK1	NRAS	DCTN4	IRF2BP2	MUC5B	CFP	NTRK1	MS4A1	CARD11	C8A	ERCC2	KRT9	CASP8	PIGT	PTEN	CD27	CD81	SH3KBP1	TFRC	NSMCE3	STAT3	IGLL1	MVK	HLA-DQA1	PACS1	LRRC8A	IL12RB1	CD3E	IGHM	DOCK8	CFI	NFKB1	CFTR	SMARCAL1	TPP2	MASP2	SFTPA2	SLC5A6	C7	ZEB2	TNFRSF1B	MIF	TRNT1	EDNRA	TONSL	TGFB1	KNSTRN	IL7R	LMNB2	MSN	MS4A2	IKZF1	C4B	PSMB4	PMM2	IL6R	CR2	ELANE	CD70	SLC9A3	TTC37	GTF2H5	MGAT2	TARS1	HYOU1	COL1A1	TERT	GCLC	RNF168	KRT1	C1S	PEPD	ITCH	CDCA7	MYD88	CFH	LRBA	CD79B	CARMIL2	POU2AF1	SP110	EPG5	C4A	GPC3	SCARB2	CARD9	ITK	CEACAM6	EXTL3	CLCA4	NHEJ1	ZAP70	RFXAP	SLC46A1	FOXP3	IL21	FAS	STXBP2	CAVIN1	GBA	MAN2B1	SFTPC	DNASE1L3	FAT4	RASGRP1	VPS45	HFE	DNMT3B	IRAK4	MAGT1	SEMA4D	HMOX1	CD55	RFX5	KRAS	CTLA4	CD40	TCN2	IL4R	MTHFD1	TYK2	ADAMTS3	C8B	PSMB9	BCL10	UNG	POMP	OTULIN	RNF113A	C5	IL2RB	IRF5	CD28	SPIB	STX1A	CISD2	LIG4	NCKAP1L	IL2RA	HELLS	ATM	SON	CCND1	IGHG2	BLM	KRT14	TOM1	LMNA	RMRP	SLC6A14	ATP6AP1	STAT4	CFHR3	C3	SH2D1A	RNU4ATAC	SYK	SPINK5	STX11	IL2RG	NLRP1	CEACAM3	CNBP	KRT74	CTPS1	MYSM1	CFD	PLVAP	NBN	SAMD9L	GPR35	IL21R	BTK	CCBE1	LAT	COG6	MST1	C1QB	KLHDC8B	TNFSF15	SLC35C1	ADA	IPO8	GPC4	HLA-DQB1	SPPL2A	CSNK2A1	UNC13D	KCNN4	SETX	B2M	SLC11A1	IFIH1	ATP6AP2	C9	SLC7A7	GSTM3	COL7A1	IVNS1ABP	ADAM17	ADA2	SERPINA1	FLNA	RBM8A	HLA-DRB1	PRF1	C1QC	TNFRSF11A
HP_CELLULAR_IMMUNODEFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CELLULAR_IMMUNODEFICIENCY	EPG5	FOXN1	SEC23B	SDHD	DKC1	PIK3CA	CREBBP	TBCE	TINF2	NOP10	WRAP53	NPM1	HELLS	SDHC	ATM	TERT	RMRP	EP300	CTC1	PTEN	USB1	SDHB	ZBTB24	AK2	AKT1	CDCA7	KLLN	DNMT3B	SMARCAL1	TERC	ACP5	NHP2	PARN	FRAS1	USF3	RTEL1
HP_RECURRENT_HAEMOPHILUS_INFLUENZAE_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_HAEMOPHILUS_INFLUENZAE_INFECTIONS	SCNN1G	SCNN1B	SCNN1A	IL2RG	CFTR	CFI	RPGR
HP_RECURRENT_PROTOZOAN_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_PROTOZOAN_INFECTIONS	CIITA	RFX5	IL12RB1	RFXAP	RFXANK
HP_COMBINED_IMMUNODEFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMBINED_IMMUNODEFICIENCY	RAG2	RAG1	IL2RG	BCL11B	IL7R	ICOS	TTC7A	XRCC4	JAK3	DCLRE1C	AK2	PIK3CD	LIG4	PNP	ACP5	KNSTRN	CD19	IKZF1	ADA	TNFRSF13B	MTHFD1	CR2	PGM3	BUB1B	PTPRC	MGAT2	CHD7	TNFRSF13C	NFKB1	NFKB2	PRKDC	EXTL3	IRF2BP2	RMRP	MS4A1
HP_RECURRENT_OPPORTUNISTIC_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_OPPORTUNISTIC_INFECTIONS	IL7R	RAG1	JAK3	ADA	DCLRE1C	IL2RG	PTPRC	ZAP70	RAG2	PNP
HP_REDUCTION_OF_NEUTROPHIL_MOTILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCTION_OF_NEUTROPHIL_MOTILITY	DNAJC21	SLC35C1	SRP54	PMM2	EFL1	RAC2	SBDS	LCP2
HP_RECURRENT_CANDIDA_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_CANDIDA_INFECTIONS	SLC39A4	CIITA	CD247	GJB2	BTD	CD3E	DOCK8	IL7R	GJB6	RFX5	IL12RB1	RFXAP	RFXANK	CD3D	ZAP70
HP_T_LYMPHOCYTOPENIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_T_LYMPHOCYTOPENIA	RAG2	FASLG	RAG1	IL2RG	NSMCE3	CIITA	LCK	WAS	FAS	MYC	DOCK8	ITK	CD8A	RIPK1	NHEJ1	NBN	PIK3CD	IL7	JAK3	LEPR	LEP	PRKCD	CD3G	FCHO1	RASGRP1	ACP5	KNSTRN	MAGT1	IL7R	FOXN1	PGM3	PTPRC	ZAP70	RFX5	ADA	RFXANK	EPG5	IL2RA	CASP10	RAC2	DNMT3B	WIPF1	UNC119	IVNS1ABP	EXTL3	TOM1	IKBKB	ATM	RFXAP	CD247	MCM10	SP110	SYK
HP_INCREASED_B_CELL_COUNT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_B_CELL_COUNT	FASLG	FAS	NCKAP1L	PRKCD	RASGRP1	CASP10	CARD11
HP_RECURRENT_BACTERIAL_SKIN_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_BACTERIAL_SKIN_INFECTIONS	CYBA	GJB2	CTSC	UROS	BTK	IL2RG	ZAP70	UROD	GATA1	DOCK8	LAMC2	ADAM17	PSEN1	EGFR	NCF2	LYST	PSENEN	IL17RA	MYD88	LAMA3	GJB6	UBE2A	LAMB3	NCF1	IL10RA	CARMIL2	CYBB	LCP2
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	PGM3	FASLG	IL2RG	NSMCE3	CIITA	LCK	WAS	FAS	MYC	ITK	RFX5	RFXANK	EPG5	LEPR	LEP	PRKCD	CASP10	PIK3CD	UNC119	RASGRP1	IVNS1ABP	EXTL3	TOM1	IKBKB	KNSTRN	MAGT1	IL7R	ATM	RFXAP
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	CD8A	IL2RG	NSMCE3	WIPF1	ZAP70	WAS	EXTL3	CD3G	IKBKB	IL7R
HP_DECREASED_SERUM_COMPLEMENT_FACTOR_B	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SERUM_COMPLEMENT_FACTOR_B	CFHR1	CFH	CFHR3	CFB	CFI
HP_RECURRENT_GRAM_NEGATIVE_BACTERIAL_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_GRAM_NEGATIVE_BACTERIAL_INFECTIONS	CYBA	SCNN1G	NCF2	SCNN1B	MBL2	C8B	IL2RG	C5	CFI	RPGR	IL12RB1	ITGB2	NCF1	SCNN1A	C6	CYBB	CFTR	CFB	C7
HP_DECREASED_SERUM_COMPLEMENT_C3	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SERUM_COMPLEMENT_C3	SPP1	LMNB2	CFHR1	CFH	PACS1	IRAK1	PRKCD	STAT4	CFHR3	C3	CFI
HP_RECURRENT_SINOPULMONARY_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_SINOPULMONARY_INFECTIONS	HYDIN	TFRC	ZMYND10	DRC1	DNAI1	CCDC40	RSPH3	GFI1	MCIDAS	STAT3	DNAH5	PIK3CD	STK36	GAS2L2	CCDC103	DNAAF11	CFAP300	DNAAF2	SPAG1	ODAD1	DNAL1	TTC12	TNFRSF13B	CCDC39	CCNO	RSPH9	NBN	ELANE	ATP6V0A2	SRP54	ODAD2	DOCK8	CFTR	CFAP298	DNAAF1	FOXJ1	NEK10	DNAAF4	ODAD3	ODAD4	DNAAF5	LRRC56	GAS8	RPGR	RSPH4A	NFKB1	RSPH1	DNAAF3	DNAH9	BACH2	CCDC65	DNAJB13	OFD1	PLCG2	DNAH11	NME8	DNAI2	TCIRG1	CFAP221	SPEF2	CASP8	DNAH1	DNAAF6
HP_RECURRENT_NEISSERIAL_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_NEISSERIAL_INFECTIONS	MBL2	C8B	C6	CFB	C7	C5	CFI
HP_IMPAIRED_T_CELL_FUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_T_CELL_FUNCTION	TBX1	SLC39A4	TGFB1	COMT	CTPS1	ICOS	HIRA	UMPS	CD3E	TNFRSF13C	DGCR8	DGCR2	ARVCF	SEC24C	RREB1	COG6	WIPF1	GP1BB	SMARCAL1	MRTFA	UFD1	DGCR6	PNP	CD19	RASGRP1	ESS2	AK2	TNFRSF13B	CR2	JMJD1C
HP_ENLARGED_POSTERIOR_FOSSA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_POSTERIOR_FOSSA	FKTN	OFD1	TIMMDC1	B3GALNT2	TMEM216	ARID2	CDKN1C	KRAS	CDC42	CEP120	TBC1D24	EBP	KCNQ1OT1	C2CD3	DAG1	IGF2	TCTN2	CDH2	TMEM231	RXYLT1	MAB21L1	VPS51	RAPSN	B9D1	CSPP1	TMEM237	SMARCA4	FKRP	SEMA3E	ABCC9	ARMC9	LARGE1	EDEM3	ACADVL	CPT2	FAR1	NSD1	MID1	PHGDH	POMT1	PACS2	RAC1	SLC35A2	KATNB1	FOXC1	SOX4	NRAS	SMARCB1	CEP290	FGFR1	SETD2	SMARCC2	CRPPA	SLC5A6	BUB1B	ATP6V1A	COG1	ALG3	WDR73	HYLS1	SMG9	WASHC5	ARID1A	COL4A1	TMEM67	POLR3A	RPGRIP1L	PITX1	DYNC2I1	POMGNT2	SOX11	PLG	GJB2	SMARCE1	ARID1B	POGZ	CHD7	RPGRIP1	MKS1	BUB3	POMT2	DHCR7	BRF1	ALDH7A1	PIGN	CEP57	NPHP3	FTO	ATP6V1B2	HRAS	GPC3	B9D2	APC2	AFF3	ZIC1	ASXL1	POLR2A	OPHN1	DPH1	KIAA0586	USP9X	MAN2B1	ATP6V0A2	DPF2	DYNC2I2	CNOT3	TMEM138	DOK7	TUBB	RNF113A	CCDC22	KIF7	SMARCD1	TCTN3	POMGNT1	B4GALT1	EVC2	SLC18A3	TXNDC15	PMM2	POMK	TCTN1	PIEZO2	EVC	FLVCR2	PLPBP	SLC13A5	PMPCA	SH2B1	PPP1CB	DENND5A	GLI3	ATP6V1E1	NUP88	BANF1	TMEM107	B4GAT1	BUB1	KCNQ1	PIGU	GPC4	WDR81	TRIP13	AP1S2	CC2D2A	MUSK	DPYSL5	IFT80	ALDH18A1	DYNC2H1	NDUFC2	SH3PXD2B	GJB6	MYOD1	BCOR	WDR35	FLNB
HP_CALVARIAL_OSTEOSCLEROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALVARIAL_OSTEOSCLEROSIS	FAM111A	LRP5	TBCE	KL	TCIRG1	ANKH
HP_ABSENT_HYPOPLASTIC_PARANASAL_SINUSES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_HYPOPLASTIC_PARANASAL_SINUSES	PDE4D	SFRP4	FUCA1	PRKAR1A	RUNX2	SIX2	AMER1	SMCHD1
HP_CRANIOFACIAL_DISPROPORTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRANIOFACIAL_DISPROPORTION	ZMPSTE24	FIG4	LMNA	CA2	IGF2	KCNA1
HP_CALCIFICATION_OF_FALX_CEREBRI	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALCIFICATION_OF_FALX_CEREBRI	SUFU	PTCH2	ABCC6	COL11A1	PTCH1	DDR2
HP_CRANIOFACIAL_OSTEOSCLEROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRANIOFACIAL_OSTEOSCLEROSIS	FAM111A	SOST	SLC39A14	PLEKHM1	KL	CLCN7	ANKH	TCIRG1	LRP5	TBCE	TGFB1	AMER1
HP_FACIAL_HYPEROSTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_HYPEROSTOSIS	SOST	PTDSS1	GJA1	AMER1	AKT1
HP_FLAT_OCCIPUT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLAT_OCCIPUT	ADSL	PEX1	UBE3B	PEX26	PEX14	RALGAPA1	ZIC1	SLC34A3	HK1	CYP27B1	DPM1	SNRPN	EHMT1	PEX11B	KIF11	MCTP2	INPPL1	FIG4	WDR73	PEX2	PEX3	MAN2B1	PEX6	UBE3A	OCRL	PEX19	TUBB3	PEX10	CYP2R1	PEX13	SETD1B	RPS23	SATB2	PEX5	ERF	PEX12	OCA2	MAN1B1	AMER1	LEMD3	TAF1	SLC35A1	PPP1R21	OTUD6B	PTCH1	VDR	SH3PXD2B	METTL23	TMEM70	PEX16
HP_DECREASED_CALVARIAL_OSSIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CALVARIAL_OSSIFICATION	FIG4	FGFR2	INTU	LMNA	PPIB	COL1A1	ALPL	COL1A2	WNT7A	ZMPSTE24	CRTAP	IFT43
HP_DECREASED_CIRCULATING_IGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_IGE	CD40LG	IL2RG	CD40	BACH2	TOM1
HP_ABNORMAL_EPIGLOTTIS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EPIGLOTTIS_MORPHOLOGY	ASAH1	DYNC2H1	PRRX1	C2CD3	SETBP1	EIF4A3	KRT14	FGF10	SF3B4	FGFR3	KRT5	DYNC2I2	GLI3	NEK1	IFT80	FOXE1	WDR35	SERPING1	DYNC2I1	FGFR2
HP_SECONDARY_MICROCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SECONDARY_MICROCEPHALY	PNPO	UBE3A	SLC12A5	YRDC	CLTC	TSEN54	CDKL5	SLC2A1	EXOSC3	DPM1	DPM2	CCDC88A	TAF2	SEPSECS	RNASEH2A	TBCD	TSEN2	HSPD1	RARS2	GABRB2	PYCR2	TRIO	ALG1	PNKP	PUF60	ALG12	SNRPN	CERT1	NEXMIF	DCX	COG2	CREBBP	JAM3	CDC42	SLC18A2	PTRH2	ARNT2	PCLO	TSEN15	DOLK	CTNNA2	EIF2B2	CHMP1A	PSAT1	KIF5C	CARS2	SLC1A4	PUS3	COQ9	GLS	TSEN34	SPTAN1	UBA5	ATP6V1A	NTNG1	SDHD	ZEB2	COG1	WDR73	TRAPPC2L	VPS11	CACNA1B	SLC25A19	EEF1A2	ACBD5	CDC45	ATP10A	SLC39A14	RNASEH2C	MGAT2	SMC1A	PMPCB	TMEM165	GABRA5	ZSWIM6	DEGS1	GRIN2A	NDUFS1	VPS53	IQSEC2	ACTG1	PPP1R12A	STAMBP	AMPD2	ASNS	EXOC2	FAR1	QARS1	SMC3	CC2D1A	EIF2B1	EIF2B4	DHFR	ACO2	EXTL3	EFTUD2	SCN1A	MED17	WWOX	SCN8A	NTRK2	PLEKHG2	VARS1	MICOS13	MECP2	NGLY1	ARFGEF2	ATP6V0A2	EIF2B5	OCA2	SMPD4	PAFAH1B1	PPT1	RNF113A	RAB18	CASK	RUSC2	TOE1	MPC1	CLP1	HTRA2	GOT2	TBC1D20	WDR37	PCDH12	ERCC8	BRAT1	POMK	MFF	PLAA	ZNHIT3	PLPBP	CNP	HNRNPH2	NDUFA11	FOXRED1	MFSD2A	TUBGCP2	SNAP29	GRIA2	EP300	ATP6V1E1	EMC1	GPT2	FGF12	GON7	RAB3GAP2	TRAPPC9	FOXG1	PIGA	TRAPPC12	TREX1	SATB1	COG8	ERCC6	SLC25A22	COG7	EIF2B3	ALG9	MDH1	GABBR2	GLYCTK	TRAPPC6B	COG6	C2orf69	TBC1D24	PARS2
HP_PROMINENT_METOPIC_RIDGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_METOPIC_RIDGE	ADSL	MAF	ABCC8	TBCK	INTU	ASXL1	KDM4B	PURA	RTTN	ERCC1	PDX1	STAT3	CDKN1C	HNRNPU	INS	PPP2R1A	SMG9	ACTB	CLCN3	KCNQ1OT1	IGF2	ZNF292	ZFHX4	ACTG1	KCNQ1	NUP188	ZNF462	ERCC2	SMARCD1	GCK	ERCC6	STXBP1	TWIST1	KANSL1	COL25A1	LMX1B	HNRNPK	ALG9	KCNJ11	MAPK1	ERMARD	ERCC5	KDM5B	TOGARAM1	CDC6	MAP1B	FOXG1	SC5D	ADAMTSL1	ADARB1	GNPTAB	MID1	NOTCH3
HP_REFRACTORY_ANEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REFRACTORY_ANEMIA	TBXAS1	BMPR1A	CP	PTEN	DDX41	GREM1
HP_CHRONIC_MYELOGENOUS_LEUKEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_MYELOGENOUS_LEUKEMIA	THPO	BCR	MPL	ABL1	JAK2
HP_INCREASED_MEGAKARYOCYTE_COUNT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_MEGAKARYOCYTE_COUNT	SF3B1	TP53	SH2B3	CALR	JAK2	TET2	MPL
HP_INCREASED_MEAN_CORPUSCULAR_VOLUME	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_MEAN_CORPUSCULAR_VOLUME	RPL31	SAMD9	EFL1	KCNN4	ANKRD11	RPL15	RPS28	MDM4	RPS24	MTRR	RPS7	GATA1	HBB	RPS15A	SRP54	RPL35	RPS29	RPL11	RPL5	SLC4A1	SBDS	RPS20	TSR2	ADA2	DNAJC21	SAMD9L	RPS19	RPL27	MMADHC	KIF23	RPL26	CBLIF	RPS27	RPL35A	RPS10	PIEZO1	RPL18	RPS17	ABCB6	RPS26
HP_DISSEMINATED_INTRAVASCULAR_COAGULATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISSEMINATED_INTRAVASCULAR_COAGULATION	PML	IRF2BP2	NUMA1	STAT5B	BCOR	CFH	NPM1	HELLPAR	PRKAR1A	FIP1L1	STAT3	CFI	RARA	SERPIND1	NABP1	RASA1	PROS1	LIPA	LPIN1	RYR1	TBL1XR1	MT-CO3	NFS1	MT-CO1	ZBTB16	NLRC4	CD46
HP_PYRIDOXINE_RESPONSIVE_SIDEROBLASTIC_ANEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PYRIDOXINE_RESPONSIVE_SIDEROBLASTIC_ANEMIA	XRCC2	ERCC4	FANCA	FANCM	SLX4	FANCC	FANCD2	BRIP1	FANCG	RFWD3	FANCB	RAD51	FANCL	PALB2	RAD51C	BRCA1	FANCE	FANCI	UBE2T	MAD2L2	FANCF	PNPO	BRCA2
HP_LYMPHOPROLIFERATIVE_DISORDER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LYMPHOPROLIFERATIVE_DISORDER	CD70	CD27	IL2RG	ZAP70	CTPS1	SMARCAL1	NRAS	MAGT1	MCM4	ADA2	ITK	KRAS	MYD88	LRBA	PRKCD
HP_SPONTANEOUS_HEMOLYTIC_CRISES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPONTANEOUS_HEMOLYTIC_CRISES	GPI	SLC2A1	ANK1	EPB42	SLC4A1	SPTB	SPTA1
HP_BONE_MARROW_HYPOCELLULARITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BONE_MARROW_HYPOCELLULARITY	SAMD9	FASLG	EFL1	TERC	FLI1	MAD2L2	DKC1	NOP10	TET2	CA2	ERCC4	WRAP53	MDM4	RTEL1	FAS	FANCC	TERT	MYSM1	PARN	IVD	NPM1	TINF2	PRF1	IFNG	GNAS	PRKCD	ACD	FANCF	USB1	RPS14	SRP72	RASGRP1	NHP2	SMARCAL1	NBN	SF3B1	GATA2	SBDS	TGFB1	CTC1	VPS33A	CLCN7	UBE2T	PGM3	CLPB	DNAJC21	FANCD2	WDR19	TBXAS1	SRP54	BRIP1	FANCL	FANCI	ERCC6L2	ZCCHC8	ADH5	CASP10	BRCA2	RPL26	DDX41	ADA2	LBR
HP_REDUCED_PROTEIN_C_ACTIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_PROTEIN_C_ACTIVITY	PROC	ALG12	ALG6	ALG8	DPM1	MPI	NGLY1	B4GALT1
HP_MYELOPROLIFERATIVE_DISORDER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYELOPROLIFERATIVE_DISORDER	GATA1	SRSF2	ASXL1	MPL	RUNX1	CALR	GATA2	BCR	PDGFRA	SH2B3	ABL1	JAK2	ALAD	TET2	KIT	PDGFRB
HP_CHRONIC_LYMPHATIC_LEUKEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_LYMPHATIC_LEUKEMIA	SRSF2	ASXL1	RNASEH2B	RNASEH2A	TREX1	RNASEH2C	MEFV	ADAR	IFIH1	TET2	KIT	SAMHD1	PIK3R1
HP_ABNORMALITY_OF_THE_METOPIC_SUTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_METOPIC_SUTURE	ADSL	MAF	ABCC8	TBCK	INTU	ASXL1	SIX2	KDM4B	PURA	RTTN	ERCC1	GLI3	PDX1	STAT3	WDR35	CDKN1C	GPC3	HNRNPU	INS	PPP2R1A	SMG9	ACTB	CLCN3	KCNQ1OT1	PTCH1	IGF2	ZNF292	ASXL3	ZFHX4	ACTG1	KCNQ1	NUP188	ZNF462	GPC4	FGFR2	HERC1	ERCC2	SMARCD1	GCK	FREM1	SETBP1	ERCC6	STXBP1	TWIST1	KANSL1	COL25A1	OTUD5	LMX1B	HNRNPK	SON	ALG9	KCNJ11	MAPK1	ERMARD	ERCC5	KDM5B	TOGARAM1	CDK8	CDC6	MAP1B	DDB1	FOXG1	SC5D	ADAMTSL1	ADARB1	GNPTAB	MID1	NOTCH3
HP_CHRONIC_LEUKEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_LEUKEMIA	SRSF2	MPL	ASXL1	WAS	RNASEH2B	WIPF1	RNASEH2A	TREX1	THPO	BCR	RNASEH2C	MEFV	ADAR	IFIH1	ABL1	TET2	JAK2	KIT	SAMHD1	PIK3R1
HP_IMBALANCED_HEMOGLOBIN_SYNTHESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMBALANCED_HEMOGLOBIN_SYNTHESIS	CD151	HBB	HBA1	HBA2	ATRX
HP_ABNORMALITY_OF_BONE_MARROW_CELL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_BONE_MARROW_CELL_MORPHOLOGY	SAMD9	FASLG	CALR	EFL1	TERC	CTLA4	DKC1	ERCC4	MPL	RTEL1	GFI1	LPIN2	XRCC4	GBA	STAT3	TINF2	PRKCD	ACD	RNASEH2A	TCIRG1	SRP72	HAVCR2	MMADHC	IFNG	TERT	SMARCAL1	OSTM1	VPS33A	CLCN7	GFI1B	UBE2T	PGM3	SLX4	JAK2	ATM	NBEAL2	STAT5B	SRSF2	RAB27A	WDR19	BRIP1	FANCI	CXCR4	CD28	STN1	ERCC6L2	ZCCHC8	BACH2	XIAP	TET2	CTC1	CASP10	EVC2	NABP1	GLI1	RPL18	BRCA2	NRAS	NHP2	PRF1	TNFRSF4	FANCE	FANCA	ZNF699	PSTPIP1	HOXA11	CD27	CIITA	MAD2L2	NOP10	CA2	MDM4	FANCC	ANKRD26	SBDS	PRKAR1A	IVD	SHOC2	NUMA1	NPM1	SH2B3	SLC35A1	RARA	HPGD	FANCB	RPS14	ELANE	DYNC2LI1	IKZF1	SRP54	GP1BB	EVC	NAXD	TBXAS1	FANCL	DNAJC21	GP9	SLCO2A1	ITCH	RPL26	UBA1	MAN2B1	PARN	GATA2	ZBTB16	LRBA	PIGA	SP110	CCND1	RFWD3	SCARB2	RUNX1	DHFR	BCOR	ALPK1	MYC	MTRR	ITK	GATA1	GNAS	SLC46A1	USB1	LMBRD1	SAMD9L	RASGRP1	LIG4	FARSB	TGFB1	KRAS	SMARCD2	NLRC4	TCN2	MTHFD1	SRC	PML	RECQL4	TALDO1	ASXL1	CLPB	PCCB	FANCD2	ATR	RFX5	RFXANK	ADH5	COQ2	RAC2	CUBN	ANAPC1	LBR	RFXAP	GNA14	SH2D1A	STX11	FLI1	WRAP53	FAS	CBL	MYSM1	TNFRSF1B	PCCA	MMAA	FANCF	COG6	LYST	NBN	CXCR2	MMAB	SF3B1	TP53	TBL1XR1	MPIG6B	STXBP2	GP1BA	IRF2BP2	PALB2	ZNFX1	UNC13D	FIP1L1	SLC7A7	TNFSF11	DDX41	ADA2	AMN	ACP5	HLA-DRB1	MRPS7	KIT
HP_MULTIPLE_RENAL_CYSTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_RENAL_CYSTS	MLXIPL	GTF2IRD2	STK11	COMT	VHL	HIRA	COL4A1	VPS37D	PRKCSH	ELN	BCL7B	TMEM270	GTF2I	TBX1	NCF1	RFC2	OCRL	LIMK1	EIF4H	SALL1	LRP5	TSC2	FKBP6	STX1A	TSC1	PEX13	DACT1	BAZ1B	ARVCF	SEC24C	SEC63	RREB1	METTL27	TBL2	CLIP2	NOTCH2	GP1BB	BUD23	UFD1	GTF2IRD1	PMM2	DNAJC30	BMPER	CCND1	DHX16	JMJD1C	FLNB
HP_REDUCED_RENAL_CORTICOMEDULLARY_DIFFERENTIATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_RENAL_CORTICOMEDULLARY_DIFFERENTIATION	BSND	DZIP1L	DHX16	DCDC2	TMEM67	PKHD1	NIPBL
HP_RENAL_MAGNESIUM_WASTING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_MAGNESIUM_WASTING	IFT122	SLC12A3	ATP1A1	FXYD2	CLDN16	CLDN19	KCNJ10
HP_HEMOLYTIC_UREMIC_SYNDROME	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMOLYTIC_UREMIC_SYNDROME	PRDX1	CFHR1	CD46	ZNFX1	C3	MTRR	CFB	MMACHC	CFI	CFH	THBD	DGKE	CFHR3	ADAMTS13
HP_DUPLICATION_OF_RENAL_PELVIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUPLICATION_OF_RENAL_PELVIS	GPC4	SLC6A17	ZEB2	GPC3	KCTD1
HP_RENAL_CELL_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_CELL_CARCINOMA	NF1	BUB1B	NRAS	SEC23B	PIK3CA	SDHD	CDC73	STK11	TFE3	VHL	TSC1	RET	CTNNB1	TLR2	FLCN	PTPN12	APC	NOD2	KEAP1	FN1	FH	SDHC	MET	AXIN2	BAX	PTEN	FOXE1	SDHAF2	SLC25A11	RNF139	BRAF	MAX	RAD54B	BAP1	TSC2	HABP2	CHEK2	MDH2	COL14A1	PTPRJ	PBRM1	SDHB	AKT1	OGG1	DICER1	MLH3	TP53	DLC1	ARMC5	HNF1B	BUB1	KIF1B	MINPP1	LMNA	SDHA	MCC	DLST	IFNG	SRC	GNAS	PLA2G2A	TMEM127	DCC	HNF1A	KLLN	FGFR3	AAGAB	EP300	CCND1	USF3	PRCC	PDGFRL	AURKA
HP_SPOTTY_HYPERPIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPOTTY_HYPERPIGMENTATION	KRT5	PRKAR1A	PRKACA	BANF1	LYST	PDE11A	PDE8B	CRIPT	SRD5A3	BLM	KRT14	FERMT1
HP_HYPERPIGMENTATION_IN_SUN_EXPOSED_AREAS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPIGMENTATION_IN_SUN_EXPOSED_AREAS	OCA2	HPS1	HFE	DSTYK	KRT14	POLH	UROD	MC1R
HP_PATCHY_PALMOPLANTAR_HYPERKERATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATCHY_PALMOPLANTAR_HYPERKERATOSIS	GJA1	GJB3	KDSR	GJB4	DSP
HP_SPOTTY_HYPOPIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPOTTY_HYPOPIGMENTATION	ABCB6	KRT5	KRT14	BLM	UBE2A	EBP	FERMT1	CRIPT
HP_GENERALIZED_HYPERKERATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_HYPERKERATOSIS	PTEN	SDHB	SEC23B	SDHD	PIK3CA	AKT1	GJB3	KLLN	ZMPSTE24	LMNA	USF3	SDHC	FUCA1
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	CDKN2B	GNAS	CDKN1B	CDKN2C	CDKN1A	MEN1
HP_ABNORMAL_TRACHEOBRONCHIAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TRACHEOBRONCHIAL_MORPHOLOGY	HYDIN	ELN	SMAD4	DKC1	DICER1	CCDC40	FCGR2A	RAD51	HYLS1	RIPK1	POLA1	HK1	KANSL1	PIK3CD	IL6ST	PIK3R1	GTF2I	FANCC	NCF1	ARSL	DNAAF2	EBP	SLC22A18	KRT5	EIF4H	HDAC4	TCF3	TAP1	AHDC1	GREB1L	POLR1C	AMER1	FANCF	ERCC4	IGKC	TTC26	TTC12	PRRX1	FANCD2	COL2A1	SCNN1B	ODAD4	LRRC56	FBN2	FANCB	ZIC3	RSPH1	NFKB2	CTC1	DDR2	MYCN	PIK3CA	DNAI1	CHD7	OFD1	TAPBP	HESX1	FANCL	SLC26A2	ERF	FOXJ1	CYP2A6	DNAH1	SEMA3E	SFTPA2	MID1	DNAAF1	DSP	EHMT1	LRRC8A	GMNN	IGHM	TERC	RSPH9	FREM2	POLR1D	MAD2L2	ZEB2	FANCA	BCL7B	KMT2C	FGFR1	CFAP300	TONSL	HRAS	BRAF	RAI1	DNAAF6	RTEL1	WDR26	DNAH5	MYH11	ODAD3	STAT1	FGFR2	PROKR2	DNAJB13	METTL27	IGLL1	CFAP298	RPGR	RSPH3	FAT4	SNRPB	NCF4	FANCI	LRBA	STN1	TGFB1	SCNN1G	ARNT2	TP73	DDRGK1	DNAAF4	SLC41A1	DRC1	CCDC39	TRRAP	USB1	DNAAF11	AFF4	RAB3GAP2	SPAG1	SFTPC	COL4A6	ODAD1	RFC2	FGF20	CD19	CTLA4	FRAS1	CD79B	MGP	FKBP6	MS4A1	CR2	NFKB1	NCKAP1L	EGFR	ICOS	GLMN	CCDC65	BTNL2	PAX3	IGHG2	KRT14	BUD23	RAD51C	KIF7	FANCE	DNAJC30	LTBP3	GRIP1	FLNB	TCOF1	CFTR	PCNT	IL2RG	FLII	SLC26A4	SOX9	VPS37D	DEAF1	FAM13A	GAS2L2	WNT9B	EMC1	SMARCA2	ARHGEF1	ODAD2	TNFRSF13B	SLC29A3	CXCR4	CASP8	CCDC103	MUC5B	PRKN	B2M	HLA-DPB1	SCNN1A	TERT	DPP9	ORC6	BRCA2	XRCC2	WBP11	PRKCD	DNAH11	WNT7A	HLA-DRB1	RIN2	BRCA1	MCIDAS	CFAP221	DNAL1	MLXIPL	ZMYND10	ALDH18A1	SOX2	CD8A	TET2	CD79A	ZNF341	LIMK1	BLNK	GNPTAB	ABCA3	PGM3	STX3	IRF8	CARD10	DCHS1	SFTPA1	GAS8	MPEG1	CYBB	TNFRSF13C	DNAAF3	BACH2	NCF2	NOTCH3	SCUBE3	UNC119	TNFSF12	HOXD13	IL17RA	SPEF2	ZNF699	RET	RALGAPA1	USP9X	PDGFRB	PALB2	MYRF	TPP2	MAP3K8	POR	NPM1	RPL5	FANCG	RAC1	FOXF1	ITGA8	HAAO	PARN	SOX3	KCNJ10	MAP3K7	SLC34A2	ERBB2	ATP11A	FASLG	TBL2	NHP2	WNT3	LTBP4	CARMIL2	SLC12A2	CCNO	FANCM	DHCR7	B3GALT6	CYBA	KEAP1	SPECC1L	STK36	RSPO2	TMEM270	BRIP1	MAGT1	RASGRP1	SLX4	DNAI2	STX1A	DNAAF5	RSPH4A	BAZ1B	DNAH9	PPP2R1B	COL4A5	RAC2	POLR1B	NEK10	CD81	LBR	RMRP	ATM	SYK	KRAS	GTF2IRD2	NOP10	BLM	IRF1	UBE2T	NBN	IL21R	LAT	FCHO1	FBLN5	ERCC6	IRF9	KIF22	BMPER	OTX2	FOXI1	RFWD3	TINF2	WDR1	WRAP53	IDUA	IDS	IQSEC2	DNMT3B	CLIP2	TRIM2	TAP2	ORC4	EXTL3	GTF2IRD1	CYBC1	NME8	ADAMTSL2
HP_APLASIA_HYPOPLASIA_OF_THE_FEMUR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_FEMUR	FLNB	CANT1	IFNGR1	RTL1	CHD4	COL2A1	TMEM67	RUNX2	EXOC6B	TRAPPC2	MTX2	RAD21	DDRGK1	COMP	SHOX	SALL4	POC1A	TBX15	IHH	MATN3	SLC10A7	TAPT1	FGFR3	NANS	B3GALT6	TBX4	XYLT1	WNT7A	AIFM1	SUCLG1	RSPRY1	FN1	CTC1	POLR3A	SLC39A13	CFAP410	PIK3C2A	SLC26A2	PUF60	CHST3	PEX5	BMPR1B	IFT140	POP1	ALG12	CCN6	TONSL	DLK1	GDF5	COL11A1	MEG3	AGPS	TRPV4	RNU4ATAC	TRAF3IP1	MMP9	IDUA	AMMECR1	BHLHA9
HP_ACCELERATED_SKELETAL_MATURATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACCELERATED_SKELETAL_MATURATION	CAVIN1	GPC3	MEN1	ALMS1	APC2	EED	FOS	SLC35D1	B4GALT7	GLI3	XYLT1	SETD2	KCNJ8	BSCL2	CDKN1C	LEPR	ABCC9	INSR	LEP	GNAS	NFIX	SMARCA2	AGPAT2	SLC10A7	TSHR	H1-4	TRPS1	TET3	EZH2	KCNQ1OT1	PTCH1	DDOST	CYP11B1	IGF2	KMT2A	DDX6	INPPL1	PRKAR1A	KCNQ1	MC2R	CAV1	AIP	GPC4	B3GAT3	PTH1R	RNF135	LHCGR	SHANK3	CANT1	PDE4D	NSD1	SLC26A2	ASXL2	CYP19A1	GPX4	CSGALNACT1	ARCN1	SUZ12	PPARG	ACAN	GPR101	HSD11B1	MKRN3	RMRP	PRKG2	CHST3
HP_BILATERAL_CAMPTODACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_CAMPTODACTYLY	APC2	SETD2	CHRNG	NSD1	ZNF407	POLR3GL
HP_THORACOLUMBAR_KYPHOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACOLUMBAR_KYPHOSIS	NEPRO	NPR2	MAN2B1	POP1	CDH11	MED12L	EXTL3	CCN6	KIF22	MGAT2	LHX3	GBA	GNPTAB	SLC26A2	FGFR3	FLNB	AMER1	GUSB
HP_BROAD_LONG_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_LONG_BONES	FGF9	NTNG2	ZMIZ1	EED	FLNB	TRMT1	ROR2	NEUROD2	GPC3	ABCC9	KDM4B	RBM8A	INPPL1	SUMF1	SCN2A	HSPG2	EZH2	CTCF	PSMD12	MED13	XYLT1	DOCK3	MEGF8	MED27	FGFR2	CLCN3	COL2A1	SATB2	TTC26	GPC4	BGN	SHH	WDR19	CDKL5	PTEN	TWIST1	KCNH1	SALL4	DDR2	BMP2	ACTL6B	TNRC6B	SUZ12	CREBBP	EMC10	DPYSL5	DVL3	HPGD	SLC26A2	GNAO1	TANC2	CHST3	PTPN23	TRIP12	PACS1	USP9X	DDX6	BCAS3	GLI3	EFNB1	SHOX	MADD	MAPK8IP3	COL10A1	PIGQ	KCNMA1	GNAS	PALS1	GDF5	B3GALT6	NPR2	LMBR1	COL1A1	KNSTRN	FBXW11	WDFY3	ACTL6A	ACAN	COL11A1	BPTF	SMOC1	ARX	TCF20	NEPRO	SETD5	SMO	MED12	FLNA	KCNA1	MED25	PDE4D	NSUN2	RAB23	DACT1	MEIS2	BCORL1	NXN	RLIM	HOXD13	FGFR1	CCDC32	MYT1L	HS2ST1	ANKRD17	GJA8	RTL1	TRIM8	SRCAP	ADNP	NOG	SLC35D1	FGFR3	ADAMTS10	G6PC3	PRKD1	SATB1	TMEM251	SMARCA2	SLC12A2	ZNF141	HTT	GPC6	UBR7	KMT2E	LIG4	B3GAT3	KIF22	BICRA	RAB33B	GRIA4	HPDL	SNIP1	MEG3	PUF60	DNMT3A	SIK1	LMBRD2	PRKG2	GRM7	GATA4	TCF7L2	PNKP	PUS7	IFT122	DMXL2	BMPR1A	FLI1	SIAH1	SVBP	SYNCRIP	CASK	SCN1B	KCNJ8	DVL1	EP300	AGO2	SALL1	PIK3CD	HHAT	COL1A2	FBN1	RNF2	WASF1	GJA1	NTNG1	GJA5	ALX4	SPTBN1	MAP3K7	CNOT3	DLK1	NSD1	TBX5	HUWE1	IFIH1	MSX2	PIGP	KAT8	SETD1A	OTUD6B	EXTL3	WNT5A	TRAPPC4	SLC25A22	RNU4ATAC	JARID2	AMMECR1	PYCR2	EXOSC2	GATAD2B
HP_ABNORMAL_VERTEBRAL_SEGMENTATION_AND_FUSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VERTEBRAL_SEGMENTATION_AND_FUSION	FLNA	FGD1	VANGL1	SALL4	GDF6	MEOX1	MAFB	BMPER	CHN1	GDF3	FUZ
HP_POSITIONAL_FOOT_DEFORMITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSITIONAL_FOOT_DEFORMITY	ELN	B9D1	TGFB3	COMT	UNC80	ALDH18A1	KANSL1	GPC3	COL6A1	NT5C2	PMP22	ENTPD1	EZH2	HSPG2	EBP	COL6A2	MTMR2	PIEZO2	RAB11B	FBN2	TOR1A	NELFA	IGHMBP2	AMER1	SATB2	CTU2	GPC4	ERCC2	BIN1	RBM10	PEX5	LIFR	GTPBP2	LETM1	MYH7	TAFAZZIN	FIBP	MYLPF	DYNC2H1	DSE	ARHGAP31	CHRNG	SALL4	CC2D2A	ERBB2	BRPF1	COLQ	CHD7	BICD2	NADSYN1	ESCO2	KY	SLC26A2	COL5A2	GDAP1	SLC6A9	SC5D	SBF2	SMC3	TNNI2	SEMA3E	CHST3	GLE1	ZSWIM6	JPH1	EHMT1	DPYS	KDM5C	ITGA7	SMC1A	SNX14	EED	IRF6	NALCN	RYR1	B4GALT7	ERCC1	FKBP10	SNCA	CPLX1	KIDINS220	MED13L	WDR73	COG4	SKI	CLCN3	TGFBR1	SPTBN1	HRAS	AP4E1	COL6A3	AP4M1	SMOC1	ECEL1	HACE1	TBX1	TH	NDE1	POR	ATRX	TSPOAP1	MAP3K20	SMAD3	PLOD2	PLA2G6	DHCR7	TGFBR2	NSD2	ACTA1	PTRH2	TMCO1	FAT4	FGD4	FKBP14	TCTN2	ESS2	FLNA	HBA1	FBXO7	PLOD1	FGD1	ADAT3	VPS33B	GDF5	KAT6B	RAD21	CHRM3	GCH1	SPEG	KYNU	RAB3GAP2	TMTC3	SYT1	ATAD3A	COG8	ERCC5	COL2A1	MEGF8	MYH8	COL1A1	TPM2	BMPR1B	PIGB	BRD4	MYMK	LMNA	ADGRG6	ATR	RUSC2	DOCK6	STAC3	TNNT3	OTUD5	MTRFR	DGCR2	TGDS	CTBP1	LMBR1	ATP6V1A	PPP3CA	REV3L	MYH3	TCTN1	CTDP1	FLNB	TRAIP	GLI3	SCYL1	EVC	LGI4	ERGIC1	PEX26	CD96	FLI1	TWIST2	CLTCL1	PLOD3	SOX9	DST	CRLF1	VWA1	ATAD1	GRIA2	LMX1B	HACD1	TMEM107	PEX1	DHCR24	SMARCA2	PDHA1	TFE3	TMEM67	FUZ	DLL4	MKS1	TP63	MTTP	TRPV4	FKTN	PSAT1	HSPB1	PTEN	IFIH1	TAF1	ALG14	COQ8A	ORC6	PLXND1	HNRNPK	NEK8	WNT7A	TRPS1	OTUD6B	GP1BB	PYCR1	BCOR	AMMECR1	FBN1	POLR3GL	GNPTAB	CANT1	RSPO2	EOGT	PIGG	RINT1	DONSON	HDAC8	RAI1	RIPK4	ALG8	SNRPN	FA2H	TMEM216	USP8	MCTP2	EIF4A3	LIMS2	DGCR6	PUF60	HSD17B4	ALG12	DCHS1	KIF1A	CSPP1	TMEM237	ZNF148	DLAT	DES	AP4B1	EXOC6B	NECTIN1	ARVCF	TPM3	SUZ12	UFD1	GORAB	EDEM3	CCBE1	NSD1	ZNF699	ORC1	CHMP1A	HK1	VANGL1	GPX4	LAMB2	COL3A1	HIRA	CRIPT	CEP290	SETD2	COL1A2	SAMD9	VIPAS39	SF3B4	COG1	HYLS1	ATP6V1E1	B3GALT6	SMS	IHH	PLEKHG5	TBC1D23	GAN	HAAO	RPGRIP1L	GUSB	PITX1	EXT1	MAP3K7	NOTCH1	ERCC6	STXBP1	GSC	MYL2	RAB23	RPGRIP1	COL12A1	MUSK	SEC24C	LONP1	MAPK1	MAFB	CHN1	TMEM231	NDRG1	MPZ	B9D2	APC2	ALG3	GAD1	NEB	FGFRL1	CTH	ANK1	NIPBL	H1-4	ZFYVE27	CCDC47	MEGF10	RECQL4	NEK9	SPECC1L	DYM	B3GAT3	OFD1	SCARF2	MYPN	KIAA1109	HBA2	GZF1	DOK7	TCTN3	MAN2B1	PI4KA	ITGA8	EIF2S3	AP4S1	EVC2	ERMARD	UBE2A	L1CAM	TXNDC15	SLC25A19	MYBPC1	TBX4	ATP6V0A2	SHROOM4	JMJD1C	SELENON	SYNE1	MFSD2A	TTN	PRUNE1	WARS2	NKAP	NEFL	CHST14	FBLN5	TBX15	C12orf57	SLC35A2	BMPER	SEC31A	TGFB2	IPO8	COL5A1	ZC4H2	FOXG1	SETBP1	DGCR8	ALG9	RREB1	TRIM2	RBPJ	PEX2	SH3PXD2B	ARSI	RBM8A	CEP55	MSX1	DHX16
HP_THORACIC_KYPHOSCOLIOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACIC_KYPHOSCOLIOSIS	PLOD1	CHRND	CHRNB1	SCN4A	SOX5	PCGF2	ZMPSTE24	LMNA	DES	CHRNA1	AK9	DOK7	RAPSN	MUSK	CHRNE	SPRTN	ITCH	IARS2	AGRN	LRP4	COL13A1	PYCR2
HP_JUVENILE_RHEUMATOID_ARTHRITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JUVENILE_RHEUMATOID_ARTHRITIS	IL6	MIF	LACC1	DCLRE1C	ACP5	HLA-DRB1
HP_DISTAL_ARTHROGRYPOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_ARTHROGRYPOSIS	CCDC47	MYH8	LGI4	FIG4	CHST14	ADGRG1	MYOD1	MYBPC1	PIEZO2	ACADM	MED13L	PI4KA	FBN2	YY1	ATAD1	GLI3	TNNI2	SRPX2
HP_JOINT_HYPERFLEXIBILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_HYPERFLEXIBILITY	RASA2	ORC1	CENPJ	PLOD1	MLXIPL	FGD1	COMT	COL1A1	ORC4	CDC6	CUL7	KDM6A	ATR	IFT122	XYLT1	RRAS	COL1A2	ELN	NUP85	PIK3CA	RIT1	ENPP1	TMEM270	GTF2I	TBX1	GMNN	PTHLH	EZH2	NCF1	RAF1	TAB2	RFC2	KRAS	C12orf57	CEP152	LIMK1	NPR2	LONP1	EIF4H	HDAC4	ATRIP	LIG4	ANTXR1	KAT6B	FKBP6	SPRED2	STX1A	CANT1	SATB2	COL9A2	LMNA	ABCC9	COL2A1	COL18A1	BAZ1B	XYLT2	COL3A1	TGDS	VPS13B	PTEN	ARVCF	TGFBR2	NFIX	SUZ12	ADAMTSL2	TNXB	RRAS2	NOTCH2	BUD23	UFD1	PLK4	GORAB	FGFR3	SEC24D	CRKL	ZNF469	RMRP	P4HB	CUL4B	FLNA	SLC9A6	DNAJC30	ALDH18A1	ATP7A	SLC2A10	CENPE	LZTR1	PCNT	JMJD1C	HOXD13	STAT3	BCR	GTF2IRD2	SEC23A	USP9X	ABCC6	EED	HIRA	COL9A1	EFNB1	VPS37D	LOXL3	MRAS	BCL7B	KMT2D	FBN1	UBE3A	HRAS	PTCH1	PTDSS1	ADAMTS2	SLC6A8	OCRL	IFT52	PIK3R1	PHF6	CCDC8	TGFBR1	SOS1	SLC26A2	SMOC1	RYR1	TGFB2	VPS37A	B4GALT7	MED12	TRAIP	EXT1	CTNND2	SKI	HNF1B	NSD1	NSUN2	WDR35	COL11A1	FLNB	SEMA5A	MAPK1	PRDM5	WDR19	OBSL1	NRAS	SOS2	UPF3B	SEC24C	ZDHHC9	RREB1	METTL27	TBL2	CLIP2	CDT1	CBL	TRPS1	GP1BB	GDF5	PAX2	PYCR1	GTF2IRD1	RPS6KA3	C1S	WASF1	TRIP11	CDC45	RBBP8	COL9A3	ORC6	C1R	PTPN11	IFT43	NOTCH3
HP_MULTIPLE_ENCHONDROMATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_ENCHONDROMATOSIS	COL2A1	POLR1B	PTH1R	IDH1	PTPN11	POLR1C	IDH2	POLR1D	TCOF1
HP_2_3_TOE_CUTANEOUS_SYNDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_2_3_TOE_CUTANEOUS_SYNDACTYLY	NECTIN4	RPL10	BCOR	MECP2	MCTP2
HP_LETHAL_SKELETAL_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LETHAL_SKELETAL_DYSPLASIA	LBR	DYNC2H1	SLC26A2	COL2A1	DYNC2I2	IFT80	TRIP11	WDR35	DYNC2I1	PTH1R
HP_SHORT_TIBIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_TIBIA	RTL1	INTU	SHOX	LMBR1	LIFR	SHH	DONSON	BMPR1B	ALG12	DLK1	GDF5	TCTN3	IHH	MEG3	NEK1	HYLS1	EIF4A3	SLC35A2	GPC6	SMOC1	GLI3	FLNB
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	COL2A1	COMP	EXT1	EP300	FZD2	CREBBP	COL1A1	TRPV4	TONSL	DVL3	UFSP2	SRCAP	COL1A2	WNT5A	TRPS1	SIL1	INPP5K	ADAMTSL2	ATP7A	ADAMTS2	FN1	TREX1	DVL1	UNC45A	SLC2A10	MATN3
HP_CONTRACTURES_OF_THE_JOINTS_OF_THE_LOWER_LIMBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONTRACTURES_OF_THE_JOINTS_OF_THE_LOWER_LIMBS	TGFB3	IRF5	UNC80	SLC25A4	ALS2	RPL10	PYROXD1	MT-TE	DAG1	RTTN	PDX1	CAPN3	BCAS3	STAT3	DPM1	ESCO2	LMNA	INS	BCOR	HSPG2	ALG2	LARGE1	CNTNAP1	SDHA	FBN2	SELENON	PSMB8	F8	AMER1	SYT2	BICD2	EMD	MMP2	LIFR	KLHL9	GCK	MYLPF	CHRNG	DDR2	SLC29A3	TPM3	SYNE2	COL6A2	KY	PTRH2	COL6A1	SLC6A9	COL6A3	NSD1	PSTPIP1	ERLIN2	ITGA7	MYO9A	NALCN	RYR1	C19orf12	GLI3	PLEC	SETD2	FHL1	SLC18A3	GFPT1	SGCG	ALAD	SLC10A7	ATP6V1E1	FKRP	HRAS	ERCC6	DSP	CAV1	FUS	TOR1AIP1	WDR26	TNNT1	FIG4	SLC25A46	ANO5	MAP3K7	GJB2	TELO2	MYL2	GNB2	MAP3K20	PLOD2	PIGN	COL12A1	PNPT1	PTDSS1	RNU4ATAC	ERCC4	ACTA1	BRF1	CCN2	DYRK1A	SVIL	ALG14	ERGIC1	MYH3	APC2	TBC1D2B	SPG11	CRPPA	ADAT3	SPTLC1	TMEM43	SIGMAR1	BAG3	KAT6B	PI4KA	SLC26A2	PIK3R2	SPEG	NSUN2	DDHD2	TPM2	MYOT	ZC4H2	FKBP10	SDHB	FKTN	NGLY1	SPTBN4	PPP2R5D	NEB	TTN	CPT2	SIK3	SGCA	BIN1	ZBTB20	SCARF2	PIGY	GMPPB	FLNA	NT5C2	KCNK9	ERLIN1	HS2ST1	FGFR3	COL2A1	SLC25A19	DPAGT1	HINT1	NOD2	TRPV4	P4HTM	ABCC8	LGI4	GARS1	POMT1	CCR6	FBN1	GFM2	OPA1	FDFT1	SLC39A8	KIAA0319L	HACD1	PHF6	ERCC8	JUP	ABHD12	IPO8	SYNE1	LMX1B	ABCD1	JAG2	PSAT1	MYBPC1	ANKLE2	HLA-DRB1	ERCC1	PTH1R	SDHAF1	UBA1	EIF5A	GJB1	SDHD	TRIM2	SRD5A3	PIEZO2	KCNJ11	GJB6	DHX16	GNPTAB
HP_BASILAR_IMPRESSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BASILAR_IMPRESSION	NOTCH2	DKK1	ZBTB20	COL1A2	COL1A1
HP_APLASIA_HYPOPLASIA_OF_THE_TIBIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_TIBIA	RTL1	INTU	LMBR1	SHOX	LIFR	SHH	DONSON	BMPR1B	ALG12	DYNC2H1	DLK1	GDF5	TCTN3	IHH	MEG3	NEK1	HYLS1	CHD7	EIF4A3	ATP7A	SLC35A2	GPC6	SMOC1	ZSWIM6	GLI3	FLNB	PITX1	SEMA3E	BHLHA9
HP_GENERALIZED_OSTEOSCLEROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_OSTEOSCLEROSIS	PHEX	PLEKHM1	CLCN7	CTSK	LRP5	SOST	LEMD3	TCIRG1	DHCR24	PTH1R
HP_CORTICAL_THICKENING_OF_LONG_BONE_DIAPHYSES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORTICAL_THICKENING_OF_LONG_BONE_DIAPHYSES	FAM111A	MAN2B1	TGFB1	TBCE	COL1A1
HP_ABSENT_DISTAL_PHALANGES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_DISTAL_PHALANGES	SLC25A24	CHUK	KCNN3	TGFBR2	NOG
HP_SHORT_MIDDLE_PHALANX_OF_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_MIDDLE_PHALANX_OF_FINGER	BMP2	BMPR1B	GDF5	RUNX2	INTU	GMNN	FGFR3	KDM6A	TFAP2B	ROR2	IHH	COL2A1	COL10A1	DVL1	KMT2D	HOXA13	PHF6	PTH1R	TRPV4	EIF2AK3	NIN	VAC14	PUF60	NEPRO	MIR17HG	GJA1	HOXD13	SLC26A2	PDE4D	BMP4	GNB2	FGFR2	IGF2	MYCN	GATA1	RBBP8	PCNT	KMT2A	WNT5A	IFT57	MECOM	FGFR1	FIG4
HP_MULTIPLE_PRENATAL_FRACTURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_PRENATAL_FRACTURES	NEB	LMOD3	KLHL40	PPIB	COL1A1	MESD	TPM3	COL1A2	P3H1	LBR	ASCC1	ACTA1	CRTAP	TRIP4	KLHL41	TAPT1
HP_PSEUDOARTHROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSEUDOARTHROSIS	EFNB1	LMNA	MYF5	ZMPSTE24	FGFR1	NF1	MET	WNT7A
HP_METAPHYSEAL_CHONDRODYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METAPHYSEAL_CHONDRODYSPLASIA	HDAC6	ALG3	DNAJC21	EFL1	MMP13	AIFM1	FGFR3	SBDS	SRP54	RMRP	GPX4	PTH1R	CWC27	COL10A1
HP_PROGRESSIVE_FLEXION_CONTRACTURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_FLEXION_CONTRACTURES	SYT1	GCH1	ANTXR2	AIMP1	ESCO2	PRUNE1	MED12
HP_CONGENITAL_FINGER_FLEXION_CONTRACTURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_FINGER_FLEXION_CONTRACTURES	FBN2	PIEZO2	MORC2	CAPN3	TGFB3	PRG4	ADAT3	COL12A1	KCNK9
HP_ABNORMAL_CERVICAL_CURVATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CERVICAL_CURVATURE	CHST14	ARSL	SLC26A2	FLNB	RIPPLY2	DSE	CHRNG	CHRND	CHRNA1
HP_BILIARY_ATRESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILIARY_ATRESIA	LONP1	ZIC3	GATA6	TMEM67	RFX6	CC2D2A	RPGRIP1L	ERCC4	INPP5E
HP_ABNORMALITY_OF_METACARPAL_EPIPHYSES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_METACARPAL_EPIPHYSES	COL9A2	BGN	IHH	SALL1	PCNT	COL9A1	GPX4	CTBP1	POR	NSD2	CPLX1	FGFRL1	RPS6KA3	NPR3	COL9A3	LETM1
HP_APLASIA_HYPOPLASIA_INVOLVING_THE_METACARPAL_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_METACARPAL_BONES	CANT1	SUFU	SRY	HDAC8	VPS35L	FLNB	COMP	ROR2	RIPK4	SALL4	DONSON	LMBR1	EIF4A3	HDAC4	PRKAR1A	COL11A2	TRIO	VAC14	BGN	GNAS	XYLT1	BMPR1B	EXT1	FZD2	FANCI	EXT2	RSPRY1	NOG	PEX7	DDR2	KNSTRN	SHOX	TRPS1	PTCH2	SLC26A2	RMRP	SMC3	BPNT2	COL9A3	GPX4	RECQL4	IHH	BMP2	COG4	B3GALT6	NPR2	WNT7A	PIGS	CHSY1	SLC39A13	PTH1R	GDF5	CD96	NEPRO	HOXD13	SETBP1	FLNA	PDE3A	MAP3K7	POR	PDE4D	GNAS-AS1	PORCN	NHS	RNU4ATAC	IFT52	RPS6KA3	FAT4	SHH	PRMT7	SMC1A	FIG4	RTL1	RUNX2	DCHS1	FBXL3	PIK3CD	LONP1	RAD21	HHAT	GLI3	COL2A1	NIPBL	VPS13B	FERMT1	PTHLH	RAB3GAP2	DYM	P3H1	LBR	TRIP11	LTBP3	CHST3	BRD4	RAB33B	PCYT1A	FANCD2	SRCAP	MEG3	IFT80	DNMT3A	FBN1	ANAPC1	REV3L	PRKG2	SIL1	TWIST2	SMARCA2	POC1A	MATN3	PTCH1	HOXA13	FGFR1	DLK1	MYSM1	B3GLCT	PLXND1	TP63	PCNT	EXTL3	PHYH	ACVR1	SVBP	STX16	CWC27	ADAMTSL2	KCNJ2
HP_ABNORMAL_METACARPAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_METACARPAL_MORPHOLOGY	CANT1	FGF9	SUFU	SRY	HDAC8	VPS35L	FLNB	COL2A1	COMP	ROR2	RIPK4	SALL4	DONSON	NOG	SMOC1	LMBR1	EIF4A3	GDF5	GLB1	HDAC4	PRKAR1A	FAM149B1	COL11A2	TRIO	VAC14	BGN	GNAS	XYLT1	MMP2	BMPR1B	EXT1	FZD2	FANCI	EXT2	RSPRY1	PEX7	DDR2	KNSTRN	HOXD13	SHOX	TRPS1	PTCH2	NEK1	SLC26A2	RMRP	SMC3	BPNT2	COL9A3	NONO	INTU	GPX4	FGF16	LRP5	RECQL4	IHH	BMP2	COG4	B3GALT6	NPR2	WNT7A	PIGS	CHSY1	SLC39A13	GUSB	PTH1R	CD96	NEPRO	CPLANE1	TOPORS	SETBP1	FLNA	PDE3A	MAP3K7	POR	PDE4D	GNAS-AS1	PORCN	NHS	RNU4ATAC	IFT52	RPS6KA3	FAT4	SHH	PRMT7	SMC1A	PRG4	FIG4	RTL1	RUNX2	DCHS1	FBXL3	PIK3CD	LONP1	RAD21	HHAT	TMEM216	ADAMTS10	GALNS	GLI3	NIPBL	NFIX	VPS13B	FERMT1	PTHLH	SPARC	RAB3GAP2	FGFR3	DYM	P3H1	LBR	OFD1	TRIP11	LTBP3	CHST3	KIAA0753	BRD4	RAB33B	SCARF2	PCYT1A	FANCD2	KIF7	SRCAP	MEG3	IFT80	DNMT3A	FBN1	ANAPC1	REV3L	PRKG2	TCTN3	SIL1	TCF12	TWIST2	PDE6D	SMARCA2	POC1A	MATN3	PTCH1	HOXA13	FGFR1	KIF22	TFE3	TWIST1	DLK1	MYSM1	BHLHA9	ZIC1	MMP14	B3GLCT	IFIH1	PLXND1	TP63	PCNT	EXTL3	FBLN1	PHYH	PQBP1	ACVR1	SVBP	STX16	CWC27	ADAMTSL2	KCNJ2
HP_ABNORMAL_FINGER_PHALANX_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FINGER_PHALANX_MORPHOLOGY	OFD1	NTNG2	ITGB4	UNC80	LZTFL1	EED	RTTN	CCDC28B	CLCN4	HYLS1	XYLT1	MSX2	SALL4	GPC3	SUMF1	LMBR1	FANCC	PAX3	CHSY1	CEP41	PIEZO2	FBN2	TMEM67	GLI1	MED27	IFT140	FAM149B1	PIGW	ZMPSTE24	FANCF	UBE2T	ERCC4	TTC26	FANCD2	ERCC2	PAH	RBM10	LIFR	BMPR1B	FZD2	MYLPF	IGHMBP2	B9D1	WDR19	WDR4	CTSK	TWIST1	BBS5	ZIC3	CHRNG	GNAS	CC2D2A	FGF10	MYCN	EVC2	PTEN	HOXD13	CEP290	CEP19	EMC10	CRKL	LMNA	FRAS1	SC5D	GJA1	DDX59	SMC3	TNNI2	SEMA3E	CHST3	PTPN23	BHLHA9	BBS7	PNPLA6	MBTPS2	DPYS	TRIP12	HPGD	DHODH	GMNN	LAMC2	B4GALT7	ERCC1	GLI3	CPLX1	MAD2L2	NALCN	FANCA	COG4	SMARCA4	RPL27	TGFBR1	WNT7A	SPTBN1	KNSTRN	DYNC2LI1	FBXW11	WDFY3	RAB3GAP1	RPL35A	SMOC1	DYNC2I1	TCF20	RPS26	CD96	FLNA	MATN3	PDE4D	ZNF711	TONSL	RPS15A	WDR35	PITX1	JAG1	ALX3	MEIS2	BCORL1	RLIM	GATA1	ZDHHC9	KCNN3	DHCR7	TGFBR2	CREBBP	GNPTAB	RAB3GAP2	GDF5	PIGN	STAMBP	RPS6KA3	TMCO1	USP9X	MYT1L	TCTN2	PRG4	FIG4	COL12A1	IDS	RPL15	ADAT3	NOG	KDM6A	LONP1	RAD21	PLAA	TRIM32	NLRP3	PRKD1	COL2A1	WNK1	TBX1	FERMT1	ATP6V1B2	KCNH1	NGLY1	ZNF141	INPP5E	KMT2E	HOXA13	ADAMTS3	MEGF8	MGP	RIPPLY2	PIGB	CEP104	BRD4	SOST	PIGL	FGFR2	HPDL	SLC26A2	EDA	DYNC2H1	DOCK6	TNNT3	RUNX2	OTUD5	SNIP1	MKKS	FGFR3	GLI2	RAI1	KCNK9	TGDS	FBN1	ERCC6	EMG1	ANAPC1	PDE3A	BCOR	WFS1	FANCE	ALG6	TFAP2A	ACTL6B	CIBAR1	TCF7L2	PUS7	CLCF1	FLI1	SIAH1	SYNCRIP	RETREG1	POC1A	DEAF1	PHF8	EP300	SATB2	PTCH1	AGO2	RPS19	FGFR1	L1CAM	PTDSS1	TMEM107	GGCX	MKS1	CSPP1	EIF2AK3	SALL1	IL11RA	DLL4	ACAN	TMEM138	ANTXR2	GJA5	IARS1	DVL3	SETD5	TUBB3	COL6A1	IFIH1	USP27X	PDE6D	XRCC2	KAT8	IFT172	SETD1A	ZNF81	CCND2	MECP2	BRCA1	ACP5	PORCN	MYOD1	PYCR2	EXOSC2	KCNJ2	OCRL	POLR3GL	CANT1	ORC1	PIGG	HDAC8	KRT14	ORC4	AKT3	FLNB	COMP	IFT122	RIPK4	KDM4B	MYH3	CTBP1	ACTG1	COL11A2	PRKAR1A	CEP120	TMEM216	TBC1D24	RPS28	PRKCZ	TBX3	RAPSN	CPLANE1	CTDP1	MYH8	TMEM237	FANCI	RPL35	IDUA	MESP2	RPL5	TNRC6B	ACTG2	UFD1	RMRP	TMEM70	GPX4	PACS1	LHX4	RPGRIP1L	TFAP2B	HIRA	CRIPT	PALB2	KCNAB2	ERCC8	IHH	ARL6	DMD	NUP107	WASHC5	FANCG	PIGS	ACSL4	ACTL6A	PIK3R2	BMP2	SLC39A13	SMO	SETBP1	PDPN	NOTCH1	CD244	NSUN2	TSPAN7	RAB23	COL3A1	PDGFRB	MAPK1	MED12	MUSK	SEC24C	CDC45	SHH	TMEM231	HS2ST1	ANKRD17	RTL1	B9D2	APC2	TBC1D2B	SRCAP	HSPG2	IL1RAPL1	G6PC3	EFTUD2	SATB1	NIPBL	SPEN	ZNF423	MEGF10	BPTF	PHF6	B3GALT6	PTH1R	DYM	TRPV4	TRIP11	KATNIP	PGAP3	SLX4	MORC2	RECQL4	CTSC	RPL10	PIGY	KIF7	MEG3	TCTN3	NOTCH2	SCAPER	ARX	BBS10	LBR	TXNDC15	CUL4B	MYBPC1	ARID1B	PRKG2	ROR2	ATL3	CCDC22	TRAPPC2	SVBP	PCGF2	WDPCP	KCNJ8	NOD2	HESX1	BBIP1	SOX11	SUFU	CCBE1	BBS2	ARL3	ASXL3	SLC35A2	UPF3B	WASF1	TTC8	GPC4	RPL31	MAP3K7	SF3B4	PTCHD1	NSD1	RFWD3	RPS29	RPL11	PEX1	WDR73	NEK1	TSR2	RREB1	IQSEC2	EXTL3	SH3PXD2B	PCYT1A	RBM8A	OTUD6B	DVL1	RNU4ATAC	ORC6	HCFC1	ADAMTSL2	TGFB3	COMT	PRKACB	ZMIZ1	CDC6	TRMT1	RAD51	TWIST2	ABCC9	EVC	ACTB	EZH2	ARSL	DOCK3	NELFA	RPL18	TRIO	AHI1	SDCCAG8	MMP2	IFT27	LETM1	TPRKB	FANCB	NHS	DDR2	FTSJ1	IFT74	CFAP418	SLC29A3	CHD7	ARMC9	COL6A2	FANCL	COL5A2	DPYSL5	SMAD3	PTCH2	COL6A3	SLC25A24	KDM5C	SMC1A	DSP	ARHGAP31	EFNB1	ABCA12	MAPK8IP3	COL10A1	KCNMA1	MTX2	ARHGEF6	SMG9	ARID1A	NFKBIL1	KIF1A	RPS10	NEPRO	EBP	TOPORS	GPKOW	MED25	NPHP1	POR	CCN6	PIGV	PRDM16	ASPN	SMARCE1	MTOR	NXN	POU1F1	KIAA0586	IFT52	CWF19L1	NSD2	CIITA	COL11A1	CCDC32	FGD1	PIGF	KIAA0825	RERE	SMARCA2	SLC12A2	SLC35A3	UBR7	LIG4	DLG3	COL17A1	KIF22	COL1A1	BICRA	KIAA0753	DOK7	GRIA4	BMP4	MACROH2A1	ATR	PGAP2	IFT80	RBBP8	FRMPD4	RAB39B	TPM2	NONO	RAD51C	TCTN1	MRPS28	DLL3	BMPR1A	PTPN22	CDKL5	FLII	RPS24	AGTR2	FKTN	WNT5A	KAT6B	ADA2	PIK3CD	NUP88	HHAT	COG5	FN1	RNF2	TRPS1	CFTR	ARL13B	NTNG1	SKI	PIGO	PSMD12	CNOT3	DLK1	LEMD3	BRCA2	CDT1	KMT2A	GP1BB	PAK3	AEBP1	PQBP1	ACVR1	AMMECR1	GATAD2B	FGF9	EOGT	VPS35L	SOX9	LRP4	CAPN3	SMARCAD1	ESCO2	MCTP2	INPPL1	ZNF41	EIF4A3	MED13	C2CD3	GDI1	LAGE3	CLCN3	PSMB8	RPS17	RPS7	VAC14	PUF60	BGN	PROP1	BBS9	PIBF1	RBPJ	IGF2	UBE4B	IL10	HDAC4	ARVCF	SUZ12	SLC9A7	KAT6A	IDH1	CNKSR2	RPS27	BBS1	CNOT1	ZNF699	TANC2	INTU	OSGEP	DDX6	LHX3	BCAS3	SETD2	MADD	RPS20	PALS1	CRLF1	NPR2	LFNG	NPR3	MMP23B	GDAP1	NIN	SYP	KIF15	MIA3	EXT1	ZNF407	CLCN7	GNB2	DACT1	RPGRIP1	IFT57	MAFB	CHN1	IFT43	GJA8	FANCM	CHUK	ADNP	SMARCB1	ALX1	FGFRL1	SCN9A	ADAMTS10	BBS12	TTC21B	NFIX	PIK3CA	BRIP1	PTHLH	FAT4	BBS4	DYNC2I2	HTT	LAMB3	ASAH1	CBY1	B3GAT3	TP53RK	MIR17HG	NUP133	ZBTB20	MID2	RAB33B	DNMT3A	CASZ1	CHST11	ADAMTS2	ALG13	ERCC5	SLC18A3	MECOM	LMBRD2	RPL26	HINT1	STEEP1	GATA4	JMJD1C	BCR	BLM	SH2B1	SLC22A4	KMT2D	PPP2R3C	LUZP1	BANF1	HES7	IKBKG	NAA10	TBR1	COL5A1	POLR3A	PEX6	ALX4	SHMT2	GABRD	TBX5	DLX5	HUWE1	TP63	PCNT	LAMA3	TRAPPC4	EDA2R	ACOX1	CWC27	JARID2
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	EVC	MGP	BGN	IFT140	EXT1	RUNX2	GPX4	TRAPPC2	GDF5	COL2A1	FGFR3	TONSL	SRCAP	ATR	ERCC8	IHH	RAB23	ERCC6	BMPR1B	TRPV4	COG4	TRPS1	NPR2	ARSL	IFT172	IFT52	KCNH1	EVC2	DYM	COMP	FLNA	NPR3	EIF2AK3	NEK1	RMRP	TRIP11	KIF15	PRKAR1A	MIA3	MRPS28
HP_ABNORMAL_HAND_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HAND_MORPHOLOGY	FAM50A	SMAD4	LMNB2	EED	KIT	GATA1	CLCN4	MAPT	SALL4	GPC3	ABCC9	EVC	SCN2A	BCOR	EZH2	ARSL	ROR2	KDM1A	TOR1A	PIGW	NELFA	RPL18	AIP	UBE2T	CTU2	GPC4	GTPBP2	LETM1	GRIK2	FZD2	FIBP	WDR19	BRIP1	EXT2	RAD51C	GNAS	MYCN	CHRNG	SMARCA4	RPL10	FTSJ1	PACS1	EVC2	HOXD13	OBSL1	CHD7	COL7A1	BMPR1B	BICD2	CRKL	SLC6A9	PTCH2	HESX1	GNAO1	GJA1	SMC3	SEMA3E	GLE1	PLAG1	CAVIN1	SLC25A24	DSP	FANCC	GMNN	SMARCB1	ARHGAP31	WIPI2	CPLX1	COL10A1	KIDINS220	MTX2	PHF8	SHANK3	ARHGEF6	WDR73	SMG9	COG4	ACAN	MYOD1	RPL27	ARID1A	IQSEC2	KNSTRN	KDM6A	DYNC2LI1	LAMB3	PIK3C2A	ALMS1	RPL35A	RPS10	RPS26	FLNA	NEPRO	EBP	SOX11	KCNA1	MED25	TMEM94	POR	PDE4D	SCYL2	ZNF711	PIGV	ARID1B	RPS15A	WDR35	JAG1	SMARCE1	MEIS2	MTOR	NXN	POU1F1	SDHB	RNU4ATAC	KCNN3	IFT52	DHCR7	NOG	NSD2	GDF5	PIGN	STAMBP	ALOXE3	FGFR1	USP9X	TBL1XR1	SMC1A	FIG4	ATP6V1B2	PKDCC	RUNX2	RPL15	TPM2	PIGF	RAD21	INSR	COL2A1	DHODH	KCNH1	HOXA13	DLG3	NALCN	MGP	BICRA	PIGB	BRD4	IRX5	HMGA2	BMP4	NSD1	FANCD2	SLC26A2	EDA	SMARCD1	PGAP2	DOCK6	TNNT3	OTUD5	RPS19	FGFR3	TRPV4	LTBP2	RBBP8	FRMPD4	CTBP1	SIK1	CNTNAP1	RAB39B	ALG6	GRM7	FLNB	ACTL6B	CHRND	PNKP	DMXL2	KRT5	MADD	RPS24	PIGL	CASK	AGTR2	SCN1B	POC1A	DST	DVL1	FGFR2	PTCH1	ADA2	PIK3CD	L1CAM	PTH1R	GGCX	ADAMTS10	SMARCA2	FN1	TRPS1	EIF2AK3	PTF1A	DLL4	PALB2	BSCL2	PIGO	DLK1	USP27X	CHRNA1	IHH	PRKDC	ZNF81	KMT2A	WNT5A	PAK3	MECP2	RPS6KA3	COX4I1	ACP5	ACVR1	SVBP	LRP4	CANT1	EOGT	MOGS	PIGG	SUFU	HDAC8	VPS35L	ARID2	NEUROD2	IFT122	RIPK4	MCTP2	ASAH1	MYH3	FBN1	TBC1D24	APC	ZNF41	EIF4A3	CTSK	GDI1	LAMA3	CNOT2	IGF2	TFAP2A	PSMD12	RPS17	RPS7	VAC14	ZMIZ1	PUF60	SLX4	PROP1	ALOX12B	FGD1	KMT2D	ALG12	RPS28	EXT1	TBX3	RBPJ	CDK5	MMP1	CDKL5	FANCI	RPL35	TNNI2	RPL5	SUZ12	PPARG	SLC9A7	GLI1	BRCA2	NOTCH2	RMRP	CNKSR2	RPS27	SDHC	FANCE	FANCA	ZNF699	CDKN1C	INTU	GPX4	SOX4	LHX4	TFAP2B	LHX3	CRIPT	SETD2	SMARCC2	SAMD9	RPS20	PIGQ	AGPAT2	DMD	LAMC2	ATP6V1E1	RAC1	FGF10	ZMPSTE24	PIGS	ACSL4	CNTN1	GAN	BMP2	POLR3A	NIN	ARX	SYP	KIF15	NF1	CUL7	SETBP1	CLCN7	NOTCH1	TSPAN7	GNB2	MAPK1	MED12	PORCN	HERC1	IFT57	AP1G1	COMP	MASP1	ASNS	IFT43	RTL1	APC2	TRIM8	IL1RAPL1	NEB	FGFRL1	ABCA12	NIPBL	NFIX	PTHLH	PHF6	RECQL4	NEK9	AIFM1	DPF2	CAV1	OFD1	PGAP3	CHST3	MIR17HG	KDM5C	ZBTB20	MID2	PCYT1A	PIGY	CCDC22	KIAA1109	SRCAP	DOK7	MEG3	RPL11	CHST11	PI4KA	ALG13	MECOM	RPL26	STEEP1	MYBPC1	PRKG2	SIN3A	GPR101	MEN1	BCR	FOS	KCNJ8	TCTN3	SPART	FANCF	IKBKG	ASXL3	UPF3B	ATN1	MMP2	TBR1	PEX6	ZMYM2	RPL31	COL17A1	MAP3K7	PTCHD1	BHLHA9	RPS29	MMP14	PEX1	TSR2	PPP1R21	COG7	PIGP	PCNT	LMNA	SLC25A22	EDA2R	CWC27	HCFC1	ITGB4
HP_ABNORMALITY_OF_EPIPHYSIS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_EPIPHYSIS_MORPHOLOGY	SMAD4	OFD1	CDC6	DDRGK1	SRCAP	COL1A2	MMP9	CKAP2L	FBN1	NKX3-2	PEX3	HSPG2	ARSL	MMP13	EBP	IFT140	UNC45A	RUNX2	COL2A1	PEX5	GNPTG	COL11A2	DYNC2H1	RSPRY1	PEX7	SLC39A13	DDR2	AGPS	NEU1	TREX1	TG	NEK1	TBX4	COL9A3	ACAN	CLCN5	SBDS	SMARCAL1	COL10A1	SLC10A7	COG4	HPGD	PEX6	TONSL	KNSTRN	IYD	PIK3C2A	NPHP4	BMPR1B	NPHP1	PEX12	POR	PDE4D	KIF1A	CCN6	CSPP1	POU1F1	ESR1	DNAJC21	NPR2	SLCO2A1	RNU4ATAC	IFT52	DHCR7	NSD2	CREBBP	GDF5	DVL1	SNRPB	PEX16	FLNA	RPL13	CENPJ	COL1A1	NOG	PIK3CD	LONP1	PEX10	PEX11B	DYNC2I1	EXTL3	GALNS	SMARCA2	SIL1	GMNN	COL9A1	KCNH1	IFT172	LTBP3	SIK3	MGP	KIF22	PEX26	TSHR	COL9A2	PIGL	SLC26A2	SRP54	ATR	PIK3R1	RETREG1	TGDS	ERCC6	TRPV4	PHEX	CYP2R1	NPHP3	ZNF469	SLC2A10	FLNB	PCNT	MRPS28	EVC	WDR19	SNX10	PEX14	SLC34A3	PLOD3	POC1A	LOXL3	GUSB	WNT5A	MATN3	EP300	SALL1	SDCCAG8	PEX1	PTH1R	GGCX	ADAMTS2	FN1	TRPS1	EIF2AK3	NSMCE2	ARSB	DYM	PEX13	PEX19	CHST3	DLK1	COL11A1	GPX4	IFIH1	PRDM5	IHH	CDT1	PYCR1	RPS6KA3	TRIP11	PHYH	PORCN	IQCB1	CANT1	FGF9	ORC1	EFL1	RINT1	ORC4	VPS35L	COMP	TSHB	INPPL1	CEP164	CTBP1	TMEM67	CEP152	PISD	PRKAR1A	HSPA9	THRB	CEP120	ZMIZ1	BGN	PROP1	XYLT1	LMBR1	IDUA	EXOC6B	VDR	GORAB	RMRP	CENPE	FGFR3	FZD2	LHX4	TREM2	LHX3	TRAPPC2	ERCC8	GNPAT	NANS	B3GALT6	CLCN7	OCRL	NPR3	KIF15	MIA3	SHOX	EXT1	TNFSF11	PDE3A	PEX2	TMEM165	DUOXA2	GLB1	KIF7	NSDHL	CDC45	RBBP8	CEP290	RTL1	CPLX1	FGFRL1	UFSP2	CYP27B1	TTC21B	CDKN1C	DPYD	NUP85	KIAA0586	AIFM1	NMNAT1	INVS	ATRIP	RAB33B	DVL3	MEG3	RAB23	TYROBP	HS2ST1	MIR140	INPP5K	ADAMTSL2	MAP3K7	EVC2	PLK4	LBR	IFT122	MAFB	DYNC2LI1	WNK1	DUOX2	HESX1	SCN9A	TCIRG1	LETM1	HOXA13	TPO	ATP7A	DYNC2I2	TRAIP	IFT80	LEMD3	CYP19A1	SLC5A5	TRAF3IP1	PCYT1A	PTPN11	RET	ORC6
HP_ABNORMAL_RENAL_CORTICOMEDULLARY_DIFFERENTIATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_CORTICOMEDULLARY_DIFFERENTIATION	OSTM1	BSND	PBX1	PKHD1	COQ7	INVS	DZIP1L	DHX16	DCDC2	TMEM67	NIPBL
HP_ABNORMAL_RESPIRATORY_MOTILE_CILIUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RESPIRATORY_MOTILE_CILIUM_MORPHOLOGY	DNAAF3	DNAAF1	RSPH4A	CCDC40	TTC12	DNAI1	CCDC103	ARMC2	NME8	ODAD1	ODAD3	CFAP298	DNAAF2	RSPH9	CCDC39	DNAJB13	DNAAF11	CFAP300	DNAL1	DNAAF5	ZMYND10
HP_RESPIRATORY_ARREST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESPIRATORY_ARREST	AFF3	TSPYL1	SLC25A1	SYT2	MYO9A	AGRN	SLC5A7	SLC25A20	MYL2	GPX4	KIT	CHAT	EXOC6B	DCTN1	ACADVL	SLC18A3	VAMP1	B3GALT6	SNAP25	COL13A1	LAMP2	COL2A1	DDC	CPT2	SLC2A10
HP_VENTILATOR_DEPENDENCE_WITH_INABILITY_TO_WEAN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENTILATOR_DEPENDENCE_WITH_INABILITY_TO_WEAN	TK2	MT-TE	ALAD	IGHMBP2	TRMU
HP_APNEIC_EPISODES_IN_INFANCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APNEIC_EPISODES_IN_INFANCY	SCN4A	FGF13	FBP1	ACADSB	SCN5A	PLA2G6	CC2D2A	NACC1
HP_BREATHING_DYSREGULATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BREATHING_DYSREGULATION	TBX20	KYNU	TMEM216	GATA4	TMEM67	RET	CITED2	MYH6	ACTC1	ASCL1	INPP5E	RPGRIP1L	AHI1	TLL1	GATA6	ELP1	CEP290	NKX2-5	PHOX2B	NDUFS6
HP_TEMPERATURE_INSTABILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TEMPERATURE_INSTABILITY	DLL1	GLI2	PTCH1	TDGF1	MYO1H	NODAL	SLC25A19	NDN	GAS1	HERC2	SHH	FOXH1	FCGR3B	STIL	ZIC2	SIX3	SNRPN	GALC	SMC1A	VPS11	TGIF1	STAG2	PWRN1	FGFR1	PSAP	DDC	CDON	MKRN3	SNORD115-1	DISP1	ALG11	LMNB1	FGF8	SPR	SLC18A2	NPAP1	MAGEL2	SNORD116-1	PWAR1	PLA2G6
HP_TYPE_II_DIABETES_MELLITUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPE_II_DIABETES_MELLITUS	MLXIPL	PROM1	MT-ND6	HMGA1	USH2A	PRPF3	NDN	STUB1	XRCC4	CPE	INSR	KIZ	GCGR	GTF2I	IFT140	NEK2	NCF1	PDE8B	NR2E3	RP2	LIMK1	RP1	EIF4H	SLC2A2	HNF1B	AIP	MT-TW	IMPDH1	IMPG1	GCK	MT-TH	AR	WRN	MT-CO1	POMGNT1	AHR	PDX1	MT-ND1	LRAT	CLCNKB	SLC7A14	PCARE	REEP6	ABCC8	IFT88	PNPLA6	IDH3B	FAM161A	SLC12A3	HGSNAT	PDE6A	CTNNB1	KLHL7	ABCA4	DHX38	BCL7B	MT-TF	IL6	PPP1R3A	AMACR	HNF4A	ROM1	ALMS1	MKRN3	SPATA7	RPE65	MT-CO3	RDH12	PRKACA	HNF1A	PRPF6	SPINK1	MT-CO2	CTRC	CRX	NRL	PTPN1	IDH3A	AKT2	MT-TL1	LIPC	KLF11	TCF7L2	METTL27	TBL2	NPAP1	BBS2	GPD2	ARL6	PWAR1	TOPORS	SNRNP200	GUCA1B	CNGB1	IRS2	CERKL	RP1L1	MT-TK	LMF1	RETN	ZNF408	CA4	ELN	TMEM270	SNRPN	RFC2	PDE6G	LIG4	MAPK8IP1	MT-TS2	RBP3	FBN1	FKBP6	GLRX5	SIM1	PRPH2	SAG	PAX4	STX1A	MC4R	IMPG2	RGR	MAK	AGBL5	KIAA1549	CDHR1	WFS1	BAZ1B	ATM	RPGR	ARL3	RHO	PLCD1	SCAPER	CAT	POLA1	DMXL2	BEST1	CNGA1	MAGEL2	BUD23	PEX10	MT-ND5	MERTK	OFD1	PRCD	EYS	DNAJC30	PRPF8	MEN1	PRKAR1A	GTF2IRD2	PDE11A	ARHGEF18	ZNF513	BLM	VPS37D	HERC2	IGF2BP2	RP9	SLC30A8	BRAF	FSCN2	KCNJ11	TTC8	TUB	DHDDS	ARL2BP	PPARG	LMNA	PWRN1	IFT172	PDE6B	MT-TE	SNORD115-1	CLRN1	POLR3A	TULP1	CARS1	ENPP1	NEUROD1	MTNR1B	PRPF4	CYP19A1	CRB1	MOG	CEP19	IRS1	CFAP418	RLBP1	PCNT	CLIP2	SEMA4A	MT-ND4	SNORD116-1	GTF2IRD1	CELA2A	MT-TQ	PRPF31	AHI1
HP_LIMITATION_OF_NECK_MOTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITATION_OF_NECK_MOTION	MYH3	SELENON	COL2A1	CACNA1A	NDE1	TTN	GABRG2	DKK1	SCN9A	ERLIN2	MYLPF	MYH7	GDF6	UNC93B1	LMNA	TRAF3	SCN1A	NOG	TICAM1	SCN1B	PRRT2	SCN2A	PCDH19	NEK9	GABRA1	TBK1	COL6A2	TLR3	IRF3	ATP1A2	MEOX1
HP_CONGENITAL_MUSCULAR_TORTICOLLIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_MUSCULAR_TORTICOLLIS	COL6A2	GDF6	MEOX1	COL6A3	PPP2R5D	GDF3	COL12A1	COL6A1
HP_REDUNDANT_NECK_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUNDANT_NECK_SKIN	RTL1	ELN	ALDH18A1	MEG3	DLK1	TBX15	CSPP1	ATP6V0A2	OTUD5	NDUFB10	ATP6V1A	B4GALT1	KIAA0586	MRPS22	FIG4	ATP6V1E1	FGFR2	FBLN5	PEX1	MRPS16	SH3PXD2B	HRAS	WDR37	CEP55	VAC14
HP_NODULAR_GOITER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NODULAR_GOITER	SASH1	FOXE1	MINPP1	ALMS1	HABP2	RET	MMP2	MMP14	DICER1	KEAP1
HP_URETERAL_OBSTRUCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETERAL_OBSTRUCTION	GRHPR	FLNA	ZMYM2	APC2	KMT2D	SLC35A2	DHCR7	SETBP1	MAP3K7	KDM6A	PIGL	TBX18	SLC26A1	SETD2	LAMC2	HNF1B	HOXA13	PRTN3	CTLA4	MYOD1	CDH11	BRF1	HLA-DPA1	PIGT	LAMA3	NODAL	DSTYK	YY1	LAMB3	EYA1	NSD1	SIX1	SIX5	PTPN22	ATP7A	HLA-DPB1
HP_ABNORMALLY_SHAPED_CARPAL_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALLY_SHAPED_CARPAL_BONES	COMP	IDH1	KIF22	EIF2AK3	DYM	GDF5	GNPTAB
HP_Y_SHAPED_METACARPALS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_Y_SHAPED_METACARPALS	HOXD13	CPLANE1	TOPORS	INTU	TCTN3	KIAA0753	PDE6D	OFD1	TMEM216	KIF7	FAM149B1	GLI3	NEK1
HP_METACARPOPHALANGEAL_JOINT_CONTRACTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METACARPOPHALANGEAL_JOINT_CONTRACTURE	ASXL1	RNF13	MAP3K7	FLNA	MYLPF
HP_PALMAR_HYPERHIDROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALMAR_HYPERHIDROSIS	KRT17	PLAA	COL17A1	ITGB4	SERPINB7	LAMC2	LAMA3	RSPO1	MBTPS2	LAMB3	KRT16	KRT6A	TRPV3	CTSB	CFTR	WNT10A	PERP	KRT6B
HP_3_4_FINGER_SYNDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_3_4_FINGER_SYNDACTYLY	GLI3	DSP	HOXD13	BHLHA9	SALL1	JUP
HP_FINGER_SYNDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FINGER_SYNDACTYLY	EOGT	SEM1	OFD1	RPL10	LRP4	RTTN	IFT122	RAD51	RB1	PITX1	GPC3	ESCO2	ABCC9	NOG	RBM8A	CKAP2L	IFT172	FANCC	APC	EZH2	KCTD1	CHSY1	ROR2	SPECC1L	MEGF8	GDF5	NECTIN1	HDAC4	FGFR2	PAX3	FANCF	SDCCAG8	ERCC4	GPC4	BBS9	FANCD2	IFT27	RBM10	SHH	ITGB4	IRF6	WDR19	TWIST1	BBS5	SALL4	FGF10	BMS1	IFT74	MESP2	HOXD13	EPS15L1	GJA1	CEP290	SUZ12	CEP19	KAT6A	FGFR3	FANCL	CCBE1	CDH3	FRAS1	NEK1	TP63	PHGDH	ORC1	BHLHA9	BBS7	PNPLA6	DHODH	FZD2	EED	ARHGAP31	PALB2	GLI3	EFNB1	FREM2	MAD2L2	SF3B4	PLEC	FANCA	MYH3	WASHC5	LMBR1	FANCG	MKS1	LFNG	DSP	SMOC1	FLNB	SMO	SOST	MED25	NOTCH1	WDR35	RAB23	SEMA5A	NXN	FANCB	FGFR1	FAT4	DVL1	AKT1	ARL6IP6	FANCI	WNT7A	IFT43	FANCM	CHUK	FGD1	DHCR7	DCHS1	WDPCP	CTNND1	TRIM32	MECOM	BBS12	ERF	PIK3CA	RIPK4	FERMT1	BRIP1	NECTIN4	BBS4	BBS1	DLX5	LZTFL1	ADAMTS3	SLX4	RIPPLY2	BMP4	DVL3	DOCK6	MKKS	DLL4	VPS13B	TCTN3	SCAPER	HOXA11	NEK9	BCOR	BBS10	REV3L	RAD51C	FANCE	KIF7	DLL3	FLI1	CCDC22	ARL6	KCNJ8	UBE2T	BTRC	WNT5A	BBIP1	SALL1	UBE3A	BBS2	PTDSS1	HES7	IKBKG	IFT52	NAA10	CFAP418	WNT10B	PTEN	JUP	TTC8	CHRNG	CTNND2	MED12	LEMD3	NSD1	RFWD3	TBX5	CDH1	BRCA2	XRCC2	NPHP1	PLXND1	GRIP1	KIFBP	PIEZO2	RBPJ	BRCA1	PORCN	DLX6
HP_ABSENT_PHALANGEAL_CREASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_PHALANGEAL_CREASE	MYH3	LMX1B	IHH	RBBP8	HOXD13	COL1A2	NOG	PIEZO2	TBX15	MASP1	TNNI2	TPM2
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	FGFR1	HOXA13	FGFR2	EIF2AK3	GDF5	PHF6	COL2A1
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	IL1RAPL1	MID2	POR	PIGO	VPS35L	ZNF711	PIGY	PTCHD1	TSPAN7	CLCN4	AGTR2	PGAP2	USP27X	DMD	ARHGEF6	PIGV	MED12	PIGL	ZNF41	SLC9A7	FRMPD4	ZNF81	ARX	PHF6	GDI1	IQSEC2	PAK3	ALG13	MECP2	RAB39B	FTSJ1	ACSL4	UPF3B	USP9X	CNKSR2	STEEP1	RPS6KA3	ALG6	PIGW	HCFC1	DLG3	SYP	PGAP3
HP_ACRAL_ULCERATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACRAL_ULCERATION	RETREG1	NTRK1	KIF1A	CCT5	NGF	MPV17	SCN9A	WNK1	SPTLC1
HP_ABNORMAL_FINGER_FLEXION_CREASES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FINGER_FLEXION_CREASES	MYH3	LMX1B	IHH	RBBP8	HOXD13	COL1A2	NOG	PIEZO2	TBX15	ATR	GDF5	MASP1	WNT7A	TNNI2	TPM2
HP_CENTRAL_Y_SHAPED_METACARPAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_Y_SHAPED_METACARPAL	OFD1	CPLANE1	TMEM216	TOPORS	KIF7	INTU	FAM149B1	TCTN3	KIAA0753	PDE6D
HP_INCREASED_LAXITY_OF_FINGERS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_LAXITY_OF_FINGERS	COMP	COL6A3	COL6A1	COL6A2	COL12A1
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	SACS	PTPN22	NFKBIL1	PEX5	SLC22A4	IL10	CD244	CIITA
HP_MESOAXIAL_HAND_POLYDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MESOAXIAL_HAND_POLYDACTYLY	HOXD13	CPLANE1	FAM149B1	GLI3	TWIST1	CHSY1	FGFR2	LZTFL1	MKKS	TFAP2B
HP_DECREASED_PALMAR_CREASES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_PALMAR_CREASES	DSE	AUTS2	CHST14	PLOD3	PIEZO2
HP_DEEP_PALMAR_CREASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEEP_PALMAR_CREASE	SLC25A24	PRR12	KCNH1	TBL1XR1	MTX2	ASXL2	BRAF	SHOC2	OTUD5	MTOR	AIP	DPYD	ASXL1	MAP2K1	KRAS	RBM10	SPECC1L	HRAS	ATP6V1B2	ASXL3	ATP6V0A2	CDK10	HNRNPK	MAP2K2	VPS33A	KCNN3	GPR101
HP_PHALANGEAL_DISLOCATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHALANGEAL_DISLOCATION	CANT1	COL5A2	COL1A1	AEBP1	B3GALT6	B4GALT7	COL5A1
HP_ENLARGED_INTERPHALANGEAL_JOINTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_INTERPHALANGEAL_JOINTS	MATN3	HOXD13	COL2A1	KAT6A	CCN6
HP_LIMITED_WRIST_MOVEMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_WRIST_MOVEMENT	GNE	COLQ	SHOX	TRAPPC2	LAMB2	MAP3K7	PIEZO2	MYH7	ZMPSTE24	LMNA	SALL4	OPA3	GDAP1	FLNA	GNPTAB
HP_LIMITED_WRIST_EXTENSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_WRIST_EXTENSION	MYH7	GNE	COLQ	LAMB2	PIEZO2
HP_INTERPHALANGEAL_JOINT_EROSIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERPHALANGEAL_JOINT_EROSIONS	PTPN22	MMP2	NFKBIL1	SLC22A4	IL10	CD244	CIITA
HP_ABNORMALITY_OF_HAND_JOINT_MOBILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_HAND_JOINT_MOBILITY	PKDCC	PRR12	FGD1	COL5A1	COMP	LMX1B	COL12A1	CCN6	PLAA	IFITM5	GNB2	BRAF	COL3A1	COL1A2	COL6A1	CSGALNACT1	RNF13	COL6A3	PTDSS1	GORAB	KCNH1	COL6A2	OTUD6B	SMS	PIGG	HRAS	RPS6KA3	YY1	NLRP1	ASAH1	NFASC	P4HTM	FBN1
HP_ABNORMALITY_OF_CARPAL_BONE_OSSIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CARPAL_BONE_OSSIFICATION	CANT1	GPC4	CHST3	BGN	XYLT1	SETD2	MBTPS1	SLC34A2	LONP1	B3GALT6	FLNB	PIGV	EXTL3	IHH	GPC3	MATN3	COL2A1	LEMD3	PTH1R	SLC10A7	DDR2	HOXA13	ABCC6	SLC35D1	EBP	TONSL	RMRP	UFSP2	ENPP1	TRIP11	TRPV4
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	FGF9	ORC1	TGFB3	ITGB4	KRT14	ORC4	CDC6	RTTN	TWIST2	CAPN3	XYLT1	SMARCAD1	SALL4	NOG	SMOC1	MYH3	EZH2	PAX3	ROR2	PIEZO2	FBN2	GDF5	LAGE3	COL11A2	PSMB8	KAT6B	ERCC2	MMP2	LIFR	SHH	PRKCZ	TBX3	CANT1	RAPSN	MYLPF	IGHMBP2	ZMPSTE24	CTDP1	WDR4	TPRKB	CHRNG	IDUA	UBE4B	IL10	MESP2	HOXD13	SLC29A3	TNNI2	TGFBR2	GJA1	SUZ12	ACTG2	KAT6A	COL2A1	COL6A2	CRKL	SMAD3	COL6A3	NSD1	NUP107	FGFR3	TMEM70	KDM5C	SMC1A	OSGEP	DHODH	FZD2	EED	LAMC2	ERCC1	LMNA	KCNAB2	EFNB1	SETD2	NALCN	CRLF1	FBN1	SMG9	NFKBIL1	LMBR1	LFNG	RAB3GAP1	MMP23B	GDAP1	SLC39A13	MED12	FLNA	MATN3	GPKOW	PDPN	ZNF407	MED25	CD244	ERCC6	CCN6	PRDM16	ASPN	ALX3	ARID1B	MAPK1	NXN	COL12A1	UPF3B	MUSK	ZDHHC9	GNPTAB	CIITA	COL11A1	DVL1	CDC45	PRG4	GPC3	APC2	IDS	TBC1D2B	FGD1	HSPG2	ADAT3	ALX1	SPEN	RERE	NLRP3	FERMT1	GMNN	MEGF10	FAT4	TRPV4	SLC35A3	LAMB3	ADAMTS3	CHST3	TP53RK	RIPPLY2	COL17A1	MORC2	NUP133	DOK7	RPL10	DVL3	SLC26A2	TNNT3	KCNK9	TGDS	EMG1	CASZ1	TCTN3	TPM2	BCOR	COL6A1	WFS1	ERCC5	SLC18A3	CUL4B	HINT1	MYBPC1	MBTPS2	NOD2	DLL3	MAFB	PTPN22	CLCF1	BCR	TRAPPC2	PCGF2	SMARCA2	PIGL	FKTN	WNT5A	SLC22A4	CCBE1	TRPS1	LUZP1	NUP88	L1CAM	HES7	IKBKG	COG5	NAA10	TGFBR1	ASXL3	SLC35A2	TBR1	CFTR	GPC4	POLR3A	PEX6	ANTXR2	SKI	MAP3K7	GABRD	TUBB3	PEX1	SH3PXD2B	WDR73	CDT1	LAMA3	PORCN	MYOD1	ORC6	ADAMTSL2	OCRL	POLR3GL
HP_APLASIA_HYPOPLASIA_OF_THE_5TH_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_5TH_FINGER	SMC3	PKDCC	BMP2	BMPR1B	GDF5	RUNX2	SOX4	KDM6A	TFAP2B	SMARCB1	ARID2	ROR2	SMARCC2	COL2A1	DVL1	KMT2D	HOXA13	TBC1D24	RAC1	ARID1A	PUF60	DPF2	CNOT2	PIK3C2A	IGF2	NIN	KIF15	ZMYM2	CUL7	FGD1	GJA1	HOXD13	SOX11	SMARCE1	HMGA2	ARID1B	GNB2	SMARCD1	GNAS	MYCN	MEIS2	SMARCA4	GATA1	OBSL1	RBBP8	WNT5A	COX4I1	MASP1	CDKN1C	WNT7A	ATP6V1B2	PLAG1
HP_APLASIA_HYPOPLASIA_OF_THE_2ND_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_2ND_FINGER	FIG4	GPC3	BMPR1B	GDF5	HOXD13	RUNX2	INTU	IRX5	MYCN	BMP2	MEIS2	COL2A1	KIF15	GPC4
HP_APLASIA_HYPOPLASIA_OF_FINGERS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_FINGERS	SMAD4	LMNB2	GATA1	CLCN4	RAD51	RB1	SALL4	GPC3	ABCC9	FANCC	SCN2A	BCOR	ARSL	ROR2	KDM1A	PIGW	NELFA	RPL18	TRIO	FANCF	UBE2T	ERCC4	GPC4	FANCD2	BMPR1B	LETM1	FZD2	WDR19	BRIP1	RAD51C	GNAS	MYCN	CHRNG	FGF10	SMARCA4	RPL10	FTSJ1	EVC2	HOXD13	OBSL1	CHD7	ESCO2	CRKL	FANCL	FRAS1	PTCH2	HESX1	NEK1	GNAO1	GJA1	SMC3	SEMA3E	PLAG1	SLC25A24	BHLHA9	GMNN	RECQL4	SMARCB1	ARHGAP31	WIPI2	CPLX1	COL10A1	MAD2L2	MTX2	ARHGEF6	FANCA	COG4	ACAN	LMBR1	RPL27	ARID1A	IQSEC2	FANCB	WNT7A	KNSTRN	KDM6A	DYNC2LI1	PIK3C2A	ALMS1	FGFR2	RPL35A	RPS10	SMOC1	RPS26	NIPBL	FLNA	NEPRO	SOX11	KCNA1	POR	PDE4D	ZNF711	PIGV	ARID1B	RPS15A	WDR35	JAG1	SMARCE1	MEIS2	MTOR	PIGN	NXN	POU1F1	LMNA	KCNN3	IFT52	DHCR7	NOG	NSD2	GDF5	STAMBP	ALOXE3	FGFR1	USP9X	TBL1XR1	FANCI	SMC1A	FIG4	ATP6V1B2	PKDCC	RUNX2	RPL15	PIGF	RAD21	COL2A1	DHODH	KCNH1	HOXA13	LIG4	DLG3	MGP	BICRA	PIGB	BRD4	IRX5	HMGA2	BMP4	SLC26A2	EDA	SMARCD1	PGAP2	DOCK6	RPS19	FGFR3	SON	TRPV4	LTBP2	RBBP8	FRMPD4	CTBP1	SIK1	RAB39B	REV3L	FANCE	ALG6	GRM7	ACTL6B	CHRND	FLNB	PNKP	DMXL2	RPS24	CASK	AGTR2	SCN1B	POC1A	DVL1	PTCH1	ADA2	PIK3CD	PTH1R	GGCX	ADAMTS10	SMARCA2	FN1	TRPS1	EIF2AK3	DLL4	PALB2	PIGO	DLK1	USP27X	CHRNA1	BRCA2	XRCC2	PLXND1	IHH	ZNF81	KMT2A	WNT5A	PAK3	MECP2	RPS6KA3	COX4I1	BRCA1	ACP5	ACVR1	SVBP	LRP4	CANT1	RSPO2	EOGT	PIGG	SUFU	HDAC8	VPS35L	ARID2	NEUROD2	IFT122	RIPK4	MCTP2	ASAH1	FBN1	TBC1D24	APC	ZNF41	EIF4A3	CTSK	GDI1	MEGF8	CNOT2	IGF2	TFAP2A	PSMD12	RPS17	RPS7	VAC14	ZMIZ1	PUF60	SLX4	PROP1	ALOX12B	FGD1	KMT2D	SHH	RPS28	TBX3	RBPJ	CDKL5	RPL35	PIGL	RPL5	SLC9A7	GLI1	CUL3	NOTCH2	RMRP	CNKSR2	EN1	RPS27	ZNF699	CDKN1C	INTU	GPX4	SOX4	LHX4	TFAP2B	LHX3	CRIPT	SMARCC2	RPS20	PIGQ	SF3B4	DMD	TP63	FANCG	RAC1	ZMPSTE24	PIGS	ACSL4	BMP2	NIN	ARX	SYP	KIF15	CUL7	SETBP1	CLCN7	NOTCH1	EVC	NSUN2	TSPAN7	GNB2	MAPK1	MED12	PORCN	RPL26	IFT57	AP1G1	COMP	MASP1	MAFB	CHN1	IFT43	RTL1	RFWD3	FANCM	TRIM8	IL1RAPL1	FGFRL1	ABCA12	NFIX	PTHLH	PHF6	AIFM1	DPF2	OFD1	PGAP3	CHST3	MIR17HG	KDM5C	ZBTB20	MID2	PCYT1A	PIGY	CCDC22	SRCAP	MEG3	RPL11	CHST11	ALG13	MECOM	STEEP1	PRKG2	SIN3A	BCR	KCNJ8	TCTN3	UPF3B	ZMYM2	RPL31	MAP3K7	PTCHD1	TBX5	DLX5	RPS29	TSR2	PIGP	PCNT	SLC25A22	EDA2R	CWC27	WNT10B	HCFC1
HP_SMALL_PLACENTA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_PLACENTA	LMNA	PHGDH	MUSK	IGF2	IGF1	CDKN1C	HMGA2	ZMPSTE24	PLAG1
HP_LARGE_PLACENTA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_PLACENTA	MEG3	DLK1	MKS1	RTL1	LMNA	TTC37	ZMPSTE24
HP_HYPOPLASTIC_SPLEEN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_SPLEEN	RELN	MCM10	NDE1	SAMD9	FAM111A	STRA6	KATNB1
HP_REDUCED_PANCREATIC_BETA_CELLS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_PANCREATIC_BETA_CELLS	ABCC8	PDX1	STAT3	EIF2AK3	GCK	KCNJ11	INS
HP_ENAMEL_HYPOMINERALIZATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENAMEL_HYPOMINERALIZATION	DLX3	ODAPH	AMTN	PHEX	ENAM	RELT	GPR68	WDR72
HP_YELLOW_BROWN_DISCOLORATION_OF_THE_TEETH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_YELLOW_BROWN_DISCOLORATION_OF_THE_TEETH	ROGDI	FAM20A	ITGB6	ENAM	RELT	DLX3	KRT14	SLC13A5	SATB1
HP_ADVANCED_ERUPTION_OF_TEETH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADVANCED_ERUPTION_OF_TEETH	EVC	EHMT1	BCL11B	DSP	ADNP	DHCR7	INSR	LMNA	GLI3	KDM6A	EP300	KRT17	KMT2C	CEP120	C2CD3	SPECC1L	ZMPSTE24	JUP	FAM20C	KDF1	NFIX	POLR3A	AMER1	PTH1R	KRT6B	FGFR2	INTU	CREBBP	NSD1	KRT6A	MKS1	EVC2	RPS6KA3	FLNA	CILK1	KRT16	NEK1	MID1
HP_AGENESIS_OF_CENTRAL_INCISOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGENESIS_OF_CENTRAL_INCISOR	EDA	MSX1	EDARADD	EIF4A3	WNT10A	LRP6	NEK1	TGFA	SUMO1	IRF6	WNT10B	FGFR1	PAX9	AXIN2
HP_ABNORMALITY_OF_DENTAL_ERUPTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_DENTAL_ERUPTION	EFL1	ZEB2	HDAC8	ARID2	ROR2	CLCN4	SFRP4	FLNB	AXIN2	EVC	CEP120	BCOR	TBC1D24	ZNF41	CTSK	GDI1	SPECC1L	FTSJ1	FAM20A	UBR1	RUNX2	TGFB1	APC	TGFA	TRIO	ANTXR1	AMER1	PRKAR1A	KRT6B	INTU	GNAS	MMP2	INSR	WNT10A	ZMPSTE24	KCNH1	KRT6A	FGF10	SMARCA4	WNT10B	SEMA3E	EVC2	DMP1	FAM111A	OBSL1	LMNA	DLG1	IKBKG	SLC9A7	GLI1	CREBBP	VDR	SLC29A3	CCBE1	CILK1	CNKSR2	POLR3B	GHR	NEK1	NSD1	ADAMTSL1	SMC3	ADNP	ERCC1	FGFR2	MID1	EHMT1	BCL11B	TWIST2	STAT3	CA2	DSP	SOX4	SNX14	SLC37A4	TFAP2B	SMARCB1	ERCC8	SETD2	SMARCC2	NECTIN1	DMD	ARHGEF6	ARHGAP29	KMT2C	EDNRA	CLCN7	OCRL	ARID1A	IQSEC2	ACSL4	SP7	DYNC2LI1	FAM20C	KDF1	GJA1	POLR3A	SLC39A13	SYP	MIA3	PTH1R	NIPBL	FGFR1	MSX1	SETBP1	SOX11	TNFSF11	FLNA	SUOX	SMARCE1	ZNF711	FGFR3	TONSL	NSUN2	ARID1B	CHD7	TSPAN7	GNB2	IRF6	PDGFRB	SBDS	KCTD1	TCIRG1	DNAJC21	MKS1	MED12	PORCN	MAP3K7	ERCC4	GDF5	USP9X	RIC1	SMC1A	ATP6V1B2	PDE4D	APC2	FGD1	IL1RAPL1	DHCR7	PIGF	ENPP1	CUL7	LONP1	KAT6B	RAD21	NPHS1	GLI3	CYP27B1	KDM6A	DPYD	SMCHD1	KRT17	C2CD3	EDARADD	FAT4	RECQL4	CYP2R1	ATP6V0A2	DPF2	DLX4	TRIP11	LIG4	DLG3	ADAMTS3	CHST3	BRD4	MID2	SRP54	KCNJ2	LRP6	EDA	SMARCD1	SRCAP	PIK3R1	RAB23	RAI1	PAX9	BMP4	ERCC6	FRMPD4	ARX	SH3BP2	ANAPC1	ALG13	SEC24D	RAB39B	P4HB	STEEP1	KRT16	ELMO2	TNFRSF11A	SNX10	PTHLH	SEC23A	FLII	PAPPA2	RHOA	AGTR2	THRA	DEAF1	DVL1	EP300	ABCA5	KCNJ5	TRPS1	FGF3	PTCH1	TCF4	CCDC8	NAA10	UPF3B	RPS6KA3	JUP	IL11RA	NFIX	CDH11	SLC13A5	SATB1	PTCHD1	MYSM1	IFIH1	USP27X	SH3PXD2B	LEMD2	HOXD13	IDS	STX16	TP63	ZNF81	WNT5A	PAK3	MECP2	EDA2R	ACP5	IGF1	AMMECR1	SUMO1	HCFC1	CDH1
HP_ENAMEL_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENAMEL_HYPOPLASIA	PEX1	COL7A1	AIRE	PLEC	RUNX2	KRT14	LONP1	GNAS	ODAPH	CYP27B1	DLX3	IRF6	FGFR1	FLNB	AXIN2	EDARADD	NECTIN4	ERCC8	CTSK	CLDN1	LAMA3	KRT5	CYP2R1	ITGA6	TGFA	LAMC2	ERCC3	MPLKIP	LAMB3	DDX59	DNAJC21	OFD1	WNT10A	ACP4	MMP1	GALNT3	ATR	LRP6	COL17A1	FGF10	WNT10B	ROGDI	PAX9	RNF113A	GRHL2	GTF2E2	SCUBE3	FGFR3	VDR	ITGB6	ERCC1	ALDH3A2	IFT122	NUP133	SLC35A2	HLA-DQA1	RHOA	ERCC4	ITGB4	FGFR2	COG6	TTC7A	SMARCA2	NF1	PIK3C2A	FAM20C	HLA-DQB1	AMELX	GJA1	MSX1	EP300	PGAP1	LMX1B	GTF2H5	TARS1	SATB1	ERCC6	GNB2	PORCN	EDA	STX16	PCNT	ERCC2	CREBBP	TRIM37	AMBN	SUMO1	KCNJ2	OCRL
HP_PROLONGED_BLEEDING_AFTER_DENTAL_EXTRACTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLONGED_BLEEDING_AFTER_DENTAL_EXTRACTION	GP1BA	MCFD2	VWF	GP9	F5	F13A1	GP1BB	F8	SERPINE1	LMAN1	F13B	ITGB3	F11	F10	F2
HP_WIDELY_SPACED_INCISORS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDELY_SPACED_INCISORS	DNMT3A	ANKRD11	CHSY1	ATRX	ALX3	TUBGCP2	STAG1	FREM1	RNF2	GATAD2B
HP_ATROPHY_OF_ALVEOLAR_RIDGES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATROPHY_OF_ALVEOLAR_RIDGES	CTSC	LYST	ELANE	C1R	C1S
HP_WIDELY_SPACED_PRIMARY_TEETH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDELY_SPACED_PRIMARY_TEETH	ERCC6	ERCC8	ERCC4	RNF113A	ERCC1
HP_SOLITARY_MEDIAN_MAXILLARY_CENTRAL_INCISOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SOLITARY_MEDIAN_MAXILLARY_CENTRAL_INCISOR	DLL1	GLI2	GAS1	SMC1A	PTCH1	TDGF1	NODAL	FGF8	SHH	FOXH1	STIL	EVC	ZIC2	SIX3	BCOR	TGIF1	STAG2	FGFR1	CDON	DISP1	ANKRD11	SUFU	EVC2	CNOT1
HP_PREMATURE_LOSS_OF_PRIMARY_TEETH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_LOSS_OF_PRIMARY_TEETH	WNT10A	EDARADD	TNFSF11	SNX10	ALPL	EDAR	PRKD1	TCIRG1	COL3A1	FIG4	FERMT1	VDR	CLCN7	CSTB	GJA1	TRAF6	KDF1	C1S	CTSC	C1R	VAC14
HP_SUPERNUMERARY_MAXILLARY_INCISOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPERNUMERARY_MAXILLARY_INCISOR	TP63	NHS	MSX1	IRF6	NECTIN1
HP_HYPOPLASIA_OF_THE_PRIMARY_TEETH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_PRIMARY_TEETH	ERCC6	ERCC8	ERCC4	UBR1	ERCC1
HP_PERSISTENCE_OF_PRIMARY_TEETH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERSISTENCE_OF_PRIMARY_TEETH	KCNJ5	FAM111A	EHMT1	CA2	SOX4	TNFSF11	PTH1R	CTSK	FLNA	TFAP2B	RHOA	ZMPSTE24	STAT3	LMNA	KCNJ2	SRCAP	BCOR	RAB23
HP_PEG_SHAPED_MAXILLARY_LATERAL_INCISORS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PEG_SHAPED_MAXILLARY_LATERAL_INCISORS	BMP4	ARHGAP29	DLG1	EDA	MSX1	EDARADD	TP63	WNT10A	LRP6	DLX4	IRF6	NEK1	TGFA	NECTIN1	SUMO1	WNT10B	FGFR1	PAX9	AXIN2	CDH1
HP_ABNORMALITY_OF_PRIMARY_MOLAR_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_PRIMARY_MOLAR_MORPHOLOGY	EDA	MSX1	EDARADD	ADAMTS2	SMARCAL1	WNT10A	LRP6	TGFA	SUMO1	IRF6	WNT10B	FGFR1	PAX9	AXIN2
HP_AGENESIS_OF_PERMANENT_TEETH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGENESIS_OF_PERMANENT_TEETH	CREBBP	MSX1	KCTD1	DVL3	MESD	WDR35	RECQL4	OFD1	LRP6	RIPK4	C1S	GNB2	EP300	UBR1	C1R	RAB23	WNT10A	SATB2
HP_FAILURE_OF_ERUPTION_OF_PERMANENT_TEETH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FAILURE_OF_ERUPTION_OF_PERMANENT_TEETH	TCF4	PTH1R	MAP3K7	FLNB	SMCHD1
HP_PREMATURE_LOSS_OF_PERMANENT_TEETH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_LOSS_OF_PERMANENT_TEETH	CAT	ALPL	ELANE	TP63	RSPO1
HP_IRREGULAR_FEMORAL_EPIPHYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRREGULAR_FEMORAL_EPIPHYSIS	UFSP2	CDC6	RNU4ATAC	PEX5	COL11A1	COL9A1	COL2A1	RPL13	ADAMTSL2
HP_CRUMPLED_LONG_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRUMPLED_LONG_BONES	COL1A2	P4HB	CRTAP	COL1A1	LRP5	SEC24D
HP_LIMITED_ELBOW_FLEXION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_ELBOW_FLEXION	SLC26A2	CHST3	GPC6	MYOT	ASXL1	FZD2	STXBP1	PTH1R	LMX1B	KCNK9
HP_KNEE_FLEXION_CONTRACTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KNEE_FLEXION_CONTRACTURE	ERGIC1	MYH3	NALCN	LGI4	SELENON	ITGA7	LIFR	UNC80	MYO9A	RPL10	ERLIN2	BAG3	KAT6B	C19orf12	PI4KA	RTTN	PIK3R2	FBN1	SLC18A3	DPM1	ESCO2	GFPT1	TPM2	FDFT1	ATP6V1E1	COL6A3	SLC39A8	ALG2	HACD1	FKBP10	SDHB	CNTNAP1	ERCC6	SDHA	FBN2	SYT2	CPT2	BICD2	SIK3	GJB2	SLC25A46	ZBTB20	LMX1B	JAG2	PSAT1	COL12A1	MYLPF	SCARF2	PIGY	TELO2	MYL2	ANKLE2	GMPPB	GNB2	MAP3K20	PTH1R	NT5C2	SDHAF1	UBA1	PLOD2	DDR2	ERLIN1	PTDSS1	TPM3	HS2ST1	RNU4ATAC	SDHD	TRIM2	SRD5A3	PIEZO2	ACTA1	FLNA	COL6A2	KY	GJB6	COL6A1	DPAGT1	SVIL	GLI3	DHX16	PSTPIP1	TRPV4	ALG14	GNPTAB
HP_SHORT_LOWER_LIMBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_LOWER_LIMBS	FN1	COL2A1	MMP13	EXT2	ARL6IP6	PPIB	SLC26A2	EXT1	ALPL	NOG
HP_OVERTUBULATED_LONG_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVERTUBULATED_LONG_BONES	LMNA	ZMPSTE24	KCNH1	KCNN3	ATP6V1B2
HP_INCREASED_DENSITY_OF_LONG_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_DENSITY_OF_LONG_BONES	MTAP	GNAS	TGFB1	SOST	STX16	TNFSF11	FLNA	SETBP1	ANO5	CA2
HP_LIMITED_PRONATION_SUPINATION_OF_FOREARM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_PRONATION_SUPINATION_OF_FOREARM	IFITM5	COLEC11	MECOM	LMX1B	COLEC10	MASP1	HOXA11
HP_BROAD_FEMORAL_NECK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_FEMORAL_NECK	CANT1	ARCN1	PTH1R	RAB33B	CCN6	UFSP2	SLC26A2	ACVR1	DYM	MATN3	COMP	SLC39A13
HP_PROXIMAL_FEMORAL_METAPHYSEAL_ABNORMALITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_FEMORAL_METAPHYSEAL_ABNORMALITY	KIAA0586	UFSP2	COL10A1	MIR140	CSPP1	SRP54	TRPV4	CFAP410	DNAJC21	SBDS
HP_RADIOULNAR_DISLOCATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RADIOULNAR_DISLOCATION	CANT1	B3GALT6	AEBP1	POR	EXOC6B
HP_PATELLAR_APLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATELLAR_APLASIA	ORC1	SHOX	RECQL4	LMX1B	GMNN	ORC4	CDC6	STXBP1	KAT6B	CDT1	CHRNG	ESCO2	DONSON	TBX4	LMBR1	ANAPC1	RBM8A	CDC45	ORC6	WNT7A	BHLHA9
HP_INCREASED_LAXITY_OF_ANKLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_LAXITY_OF_ANKLES	COMP	COL6A3	MFN2	COL6A2	COL6A1	GLI3	PYCR2
HP_PROXIMAL_FEMORAL_EPIPHYSIOLYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_FEMORAL_EPIPHYSIOLYSIS	DNAJC21	SRP54	RSPRY1	EFL1	RET	PCNT	SBDS
HP_ANKLE_FLEXION_CONTRACTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANKLE_FLEXION_CONTRACTURE	ERGIC1	LGI4	APC2	SELENON	COL12A1	ITGA7	SPG11	RPL10	RYR1	ERLIN2	DAG1	C19orf12	PI4KA	RTTN	CAPN3	SETD2	ALAD	DDR2	COL6A2	HACD1	FKBP10	SPTBN4	NEB	TOR1AIP1	SYT2	FIG4	TPM2	MMP2	ANO5	KLHL9	DPM1	PSAT1	MYL2	COL6A1	MAP3K20	NT5C2	UBA1	PNPT1	TPM3	ESCO2	ACTA1	FLNA	COL6A3	DYRK1A	SVIL	NSD1
HP_ABNORMALITY_OF_THE_ALVEOLAR_RIDGES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ALVEOLAR_RIDGES	EVC	RERE	CPLANE1	TOPORS	GJA1	SETBP1	RBM10	OFD1	TCTN3	KIAA0753	DIS3L2	CTSC	PDE6D	IRF6	TMEM216	KIF7	SNRPN	ASXL1	FIG4	ARX	TBC1D24	LYST	DHCR7	BRF1	SH3BP2	EVC2	TBX15	SH3PXD2B	C1S	NTRK1	FAM149B1	DHCR24	GNPTAB	ELANE	C1R	ATP6V1B2	ZC4H2	VAC14	CD96
HP_ABNORMAL_DENTAL_PULP_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DENTAL_PULP_MORPHOLOGY	DLX3	DKC1	SMOC2	FLII	EDA	NF1	IFT122	NOP10	NPM1	DEAF1	IRF6	FGFR1	AXIN2	USB1	TP63	FGF3	EDARADD	GJA1	OCRL	IFT52	FAM20A	TGFA	RTEL1	COL5A1	PEX6	COL1A1	MSX1	LRP6	BRF1	WNT10A	GALNT3	TINF2	WDR35	WRAP53	PEX1	WNT10B	TERT	WDR19	RAI1	CTC1	PAX9	IQSEC2	TERC	DSPP	NHP2	LAMB3	COL5A2	PARN	NEK1	SUMO1	IFT43
HP_PREMATURE_LOSS_OF_TEETH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_LOSS_OF_TEETH	WNT10A	TERC	SNX10	ALPL	SEC23A	CTSC	KRT14	GFI1	DKC1	EDAR	PRKD1	TINF2	TCIRG1	PLEKHM1	TP63	FIG4	FERMT1	VDR	CLCN7	GJA1	TRAF6	TERT	LMNA	ELANE	SRP54	SLC35C1	ZMPSTE24	TNFRSF11A	MIA3	VAC14	POLR3A	EDARADD	TNFSF11	TNFRSF11B	COL3A1	RUNX2	SH3PXD2B	CYP27A1	C1R	CAT	RBM28	NOTCH2	CSTB	CDH11	KDF1	RSPO1	C1S	NTRK1	AEBP1	PIGT
HP_ABNORMALITY_OF_PRIMARY_TEETH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_PRIMARY_TEETH	WNT10A	EHMT1	MSX1	SNX10	RUNX2	CA2	ALPL	FLII	TFAP2B	RHOA	EDAR	STAT3	ERCC8	PTH1R	PRKD1	SNRPN	DEAF1	IRF6	TCIRG1	FGFR1	AXIN2	FIG4	KCNJ5	FERMT1	EDNRA	VDR	EDARADD	CLCN7	CTSK	GJA1	SMARCAL1	TRAF6	FGFR2	TGFA	B4GALT7	VAC14	TNFSF11	SOX4	RNF113A	FGFR3	ERCC6	ZMPSTE24	KCNJ2	LRP6	SRCAP	UBR1	FGF10	RAB23	WNT10B	COL3A1	RAI1	LEMD2	PAX9	HNRNPK	FAM111A	PURA	EDA	IQSEC2	ADAMTS2	CSTB	ERCC4	FLNA	KDF1	C1S	TMCO1	CTSC	LMNA	C1R	BCOR	SUMO1	ERCC1
HP_ABNORMALITY_OF_DENTAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_DENTAL_MORPHOLOGY	EDARADD	MLXIPL	MSX1	DKC1	NTNG2	PLEKHM1	PRKACB	ZMIZ1	KRT14	ALX4	TRMT1	EDAR	IFT122	TWIST2	MGAT2	KANSL1	SNRPN	DLX3	KDM4B	HRAS	AXIN2	EVC	GTF2I	BCOR	TBC1D24	NCF1	CTCF	PITX2	PSMD12	CHSY1	MED13	DOCK3	SMARCAL1	WNT10A	LIMK1	TCIRG1	NECTIN1	MED27	EIF4H	CLCN3	UBR1	POLR1C	TGFA	SATB2	VPS51	KRAS	LRP6	TP63	GALNT3	NRAS	NHS	FGF10	WNT10B	CTC1	EVC2	ACTL6B	DLG1	IKBKG	TNRC6B	GLI1	CREBBP	CDH11	FGFR3	NHP2	EMC10	MYO7A	CCBE1	CDH3	DPYSL5	ADGRV1	GHR	NEK1	TANC2	CHST3	SLC25A24	ORC1	PTPN23	FGF3	TRIP12	SLC35A2	NOP10	EDA	DDX6	IRF6	CLCN7	BCAS3	WDR35	NPM1	MADD	MAPK8IP3	CACNA1C	POLR1D	KCNMA1	WDR4	ATP6V1B2	PALS1	ZEB2	BCL7B	ARHGAP29	FOXC1	TRAF6	OCRL	BRCA1	TONSL	DYNC2LI1	DHX37	FBXW11	WDFY3	EYA1	ACTL6A	PIK3C2A	FGFR2	FAM20C	COL11A1	BPTF	SMOC1	RTEL1	NFKBIA	TCF20	AMELX	GJA1	FARS2	IFT140	BRF1	TSPEAR	ARID1B	WDR19	BCORL1	RLIM	USH2A	METTL27	CSTB	TBL2	MAPK1	C1S	TMCO1	LAMB3	CCDC32	PARN	MYT1L	ANAPC1	PRKACA	HS2ST1	ANKRD17	IFT43	SMC3	IDS	SRCAP	DHCR7	PIGF	B3GALT6	KDM6A	CTNND1	ADAMTS10	PRKD1	SATB1	PAX9	FGFR1	ELN	VPS13B	CCDC47	USB1	TMEM270	DHODH	SLC12A2	NECTIN4	ANKRD11	RFC2	WHRN	FAT4	RECQL4	LONP1	ATP6V0A2	SMARCA2	DLX4	HTT	UBR7	SMARCD2	KMT2E	RBBP8	B3GAT3	ADAMTS3	FKBP6	CDH1	STX1A	GRIA4	DNAJC21	PIGL	HPDL	P4HB	MCOLN1	RUSC2	BAZ1B	COL3A1	RAI1	KCNK9	BMP4	ADAMTS2	POLR1B	KDF1	BUD23	TERC	REV3L	IDUA	LMBRD2	CDK10	DNAJC30	TFAP2A	TCOF1	TCF7L2	PCNT	PUS7	UBE3B	GTF2IRD2	BCL11B	SMOC2	SEC23A	FLII	SH3BP2	SVBP	PCGF2	SYNCRIP	SIX1	RHOA	VPS37D	DEAF1	EP300	KMT2D	AGO2	TRPS1	HEPHL1	IFT52	PIK3R1	CKAP2L	NAA10	FBN1	RNF2	WASF1	KAT6B	PKP1	NTNG1	PEX6	ANTXR2	SPTBN1	PIGA	MED12	CNOT3	TINF2	WRAP53	MAPRE2	HUWE1	B3GLCT	GRIA3	PEX1	TERT	PLXND1	PURA	IQSEC2	KAT8	CLIP2	SETD1A	KIAA0753	TRAPPC4	GTF2IRD1	RPS6KA3	LTBP3	EDA2R	DPF2	PQBP1	PORCN	PDZD7	C1R	JARID2	SUMO1	MBD5
HP_ABNORMAL_NUMBER_OF_TEETH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NUMBER_OF_TEETH	WNT10A	EDARADD	MSX1	OFD1	DKC1	ITGB4	PRKACB	TP63	SHH	CCDC28B	POLR3K	MSX2	SMG8	TRPV3	AMMECR1	AXIN2	EVC	GTF2I	BCOR	NCF1	HSPG2	CHSY1	TGIF1	ROR2	SCN3A	DCAF17	RPS23	NECTIN1	EIF4H	NTRK2	NELFA	RUNX2	POLR1C	SZT2	SATB2	PITX2	LETM1	DDX59	POLR3A	ZMPSTE24	NODAL	DSP	NDNF	CTSK	CDON	NHS	FOXH1	FGF10	WNT10B	CTC1	FGF8	CFAP418	FGFR1	EVC2	GRHL2	DLG1	LMNA	CDH3	POLR3B	YWHAG	DVL3	NEK1	TDGF1	MID1	ARV1	SLC25A24	SMC1A	EDA	IRF6	LAMC2	APC	CPLX1	POLR1D	SLC10A7	ATP1A2	STIL	BCL7B	HS6ST1	CACNA1A	FOXC1	KCNB1	PTCH1	CHD7	TRAF6	SIX3	DYNC2LI1	DHX37	SYNJ1	PIK3C2A	ALMS1	FGFR2	KREMEN1	KCNN3	RTEL1	NFKBIA	FLNA	NEPRO	GJA1	UBA5	DUSP6	ZIC2	FLRT3	TSPEAR	WDR35	NXN	DISP1	METTL27	SOX10	GABRB2	NSD2	CREBBP	GDF5	STAG2	RPS6KA3	DPP6	GRIN2D	DVL1	AKT1	IKBKG	CENPJ	KDM6A	GRHL3	DCC	LEMD3	PAX9	ELN	USB1	C2CD3	SLC1A2	ATP6V1B2	EEF1A2	ERCC8	RFC2	KCNA2	CLDN1	AARS1	PROKR2	ADAMTS3	COL17A1	FKBP6	CDH1	IRX5	PIGL	ATR	KCNJ2	ACTL6B	PIK3R1	OTUD5	GLI2	VPS13B	GAS1	CCDC141	CTBP1	SH3BP2	KDF1	BUD23	TERC	ANAPC1	REV3L	DNAJC30	TFAP2A	TCOF1	PCNT	DLX3	DLL1	BCL11B	KCNH1	CYFIP2	TRIO	VPS37D	WNT5A	SLC13A5	RNF13	EP300	DNM1	GABRA5	PTH1R	EDAR	CKAP2L	TRPS1	IL11RA	CNKSR2	PARS2	ANKRD11	NECAP1	MESD	CLTC	PROK2	ERCC6	PUS7	TERT	PLXND1	HNRNPK	KCNE5	LTBP3	PORCN	AP3B2	LRP4	SUMO1	POLR3GL	WDR11	PIGG	MLXIPL	KRT14	FLNB	IFT122	CEP85L	EIF4A3	KCTD1	SMARCAL1	TACR3	CEP152	LIMK1	HSPA9	UBR1	TGFA	PRKAR1A	HMGA2	PUF60	FGD1	XYLT1	POP1	TBX3	LRP6	MBTPS2	NUS1	GABRA2	DLX4	FEZF1	SCN8A	SCUBE3	GLI1	FGFR3	RMRP	HUWE1	CTSC	CCBE1	ATP1A3	CDK19	GHR	BBS1	NSD1	CNOT1	CENPE	ERCC1	FGF3	FZD2	LMNB1	SETD2	PPP1R15B	NPM1	SEMA3A	ARL6	ACSL4	ARHGAP29	HCN1	OCRL	SLC39A13	NKX2-1	EXT1	IL17RD	SUFU	CACNA1B	GNB2	NAA10	SLC37A4	ANOS1	WDR19	TBL2	ERCC4	C1S	NHP2	TRIM37	RBBP8	PARN	IFT43	WWOX	MAF	APC2	DHCR7	SYNGAP1	FGFRL1	DYRK1A	NUP85	CELF2	TMEM270	FGF17	FAT4	RECQL4	RIPK4	HESX1	LAMB3	ATRIP	PPP3CA	STX1A	DNAJC21	ATP6V1A	SRCAP	BAZ1B	TRAK1	RAB23	GABRG2	BMP4	CTNND1	ADAMTS2	POLR1B	RBM28	PLK4	GREM2	GTF2IRD2	PTHLH	MTX2	RHOA	NOP10	BLM	KIF1C	FGF12	KCNJ5	KMT2D	PPP2R3C	TRMT10A	IFT52	FGF13	PTEN	TRAIP	MAP3K7	TINF2	WRAP53	B3GLCT	CREB3L1	DHDDS	SPRY4	LEMD2	CAMTA1	CLIP2	LAMA3	GTF2IRD1	ACOX1	C1R	DALRD3	PERP
HP_AGENESIS_OF_INCISOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGENESIS_OF_INCISOR	DLX3	MSX1	WNT10A	BLM	LRP6	NAA10	IRF6	DLX4	B3GLCT	NECTIN1	WNT10B	GLI2	FGFR1	PAX9	AXIN2	BMP4	ARHGAP29	DLG1	EDA	EDARADD	EIF4A3	TP63	BCOR	RIPK4	NEK1	TGFA	SUMO1	CDH1
HP_ABNORMAL_DENTAL_ROOT_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DENTAL_ROOT_MORPHOLOGY	DLX3	DKC1	SMOC2	FLII	EDA	IFT122	NOP10	NPM1	DEAF1	IRF6	FGFR1	AXIN2	USB1	TP63	FGF3	EDARADD	GJA1	OCRL	TONSL	IFT52	TGFA	RTEL1	PEX6	MSX1	LRP6	BRF1	WNT10A	GALNT3	TINF2	WDR35	WRAP53	PEX1	WNT10B	TERT	WDR19	RAI1	CTC1	PAX9	IQSEC2	CDH11	TERC	NHP2	LAMB3	PARN	NEK1	BCOR	SUMO1	IFT43
HP_BOWING_OF_THE_ARM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BOWING_OF_THE_ARM	FLNB	RSPO2	CHST3	SHOX	TMEM67	POR	FLNA	VPS35L	SCARF2	RECQL4	B2M	SLC26A2	RIPK4	FGFR2	TRPV4	B3GALT6	NPR2	RNU4ATAC	PCNT	KDELR2	GDF5	WNT7A	KIAA0753	P3H1	FGF23	COL11A1	PRKG2	IFT43	GLI3	HOXA11	MMP13
HP_ABNORMALITY_OF_LOWER_LIMB_METAPHYSES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_LOWER_LIMB_METAPHYSES	TRIP11	EZH2	COL10A1	SETBP1	COL11A2	SBDS	UFSP2	CSPP1	TP53	TRPV4	KIAA0586	PHEX	FGFR3	RASA1	MIR140	CHEK2	AIFM1	DNAJC21	COMP	RB1	SRP54	CFAP410
HP_APLASIA_HYPOPLASIA_OF_THE_FIBULA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_FIBULA	FLNB	FLNA	IFT122	INTU	AFF3	COL11A1	BMPR1B	SLC35D1	SOX9	DYNC2H1	LMBR1	GDF5	ATR	SHOX	RBM8A	SF3B4	SMOC1	EIF4A3	WNT7A	PTH1R	MET	TBX15	AFF4	INPPL1	GPC6	AMER1	BHLHA9
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	IFNGR1	FAM50A	WDR81	LMNA	SMAD4	OFD1	IL7R	NTNG2	EXOC6B	ZMIZ1	TBCE	LZTFL1	CDC6	DDRGK1	TRMT1	EOGT	CCDC28B	DLK1	NDN	RAG2	SALL4	GPC3	ABCC9	RBM8A	FBN1	FGFR3	LMBR1	SNRPN	ARSL	MMP13	CHSY1	DOCK3	MAPK8IP3	FBXO11	SUCLG1	MED27	IFT140	HDAC4	NELFA	AMER1	SATB2	GPC4	INTU	RAG1	PEX5	LIFR	BMPR1B	LETM1	DYNC2H1	PRMT7	EXT2	CHRNG	GNAS	RSPRY1	SLC39A13	MYCN	AGPS	HOXD13	ACTL6B	CHD7	COL2A1	EMC10	SLC26A2	FGFR2	DPYSL5	NEK1	SMC3	TBX4	SEMA3E	CHD4	PTPN23	BHLHA9	TRIP12	SMC1A	GMNN	PHYH	RECQL4	ARHGAP31	FKBP10	MEG3	CPLX1	KCNMA1	SLC10A7	NTNG1	SLC35C1	COG4	CHUK	PPM1D	WNT7A	FBXW11	WDFY3	ALMS1	MKRN3	BPTF	SMOC1	DYNC2I1	TCF20	FLNA	FLNB	MAGEL2	PDE4D	HDAC6	RTL1	CCN6	TONSL	PIGV	TELO2	PRDM16	ARID1B	PIGN	BCORL1	RLIM	RNU4ATAC	KCNN3	NPAP1	IFT52	GALNT2	DHCR7	NOG	NSD2	TRIP11	ALOXE3	FGFR1	CCDC32	FAT4	DYRK1A	TBL1XR1	ARL6IP6	MYT1L	FIG4	OCA2	HBA1	ATP6V1B2	COL3A1	FGD1	RUNX2	PIGF	PIK3CD	CAMK2G	KAT6B	RAD21	RERE	TRRAP	ASXL1	DLL4	VPS13B	USP9X	SLC12A2	RAB3GAP2	KCNH1	MECP2	IFT172	INPPL1	UBR7	KMT2E	HOXA13	LIG4	MGP	BRD4	GRIA4	PIGL	HPDL	ATR	KCNJ2	DOCK6	IFT80	TRPV4	CTBP1	CDKL5	WDR19	ANAPC1	MSL3	LTBP3	GRIP1	TCF7L2	PUS7	GDF5	HDAC8	FLI1	TMEM67	DNMT3A	COL11A1	SIL1	PPIB	SYNCRIP	CDT1	SMARCA2	SOX9	POC1A	MATN3	TAPT1	AGO2	LMX1B	SALL1	IGF1R	PTH1R	TCF4	PHF6	FN1	RNF2	TRPS1	SNORD115-1	CFAP410	PAPSS2	SPTBN1	B3GLCT	SATB1	CNOT3	UBE2A	ORC6	IHH	GABBR2	KAT8	ACVR1	SETD1A	KMT2A	MET	SNORD116-1	AFF4	COX4I1	WASF1	SVBP	LRP4	AMMECR1	WDR35	CANT1	ORC1	PIGG	SRY	DONSON	ORC4	VPS35L	KDM4B	COMP	ESCO2	ASAH1	TBC1D24	APC	EIF4A3	PSMD12	MED13	XYLT1	CTSK	SPECC1L	C12orf57	PRKAR1A	CLCN3	LAS1L	CEP120	VAC14	TBX22	PUF60	BGN	ALOX12B	SHH	PRKCZ	CENPE	POP1	EXT1	RBPJ	UBE4B	KNSTRN	SHOX	CERT1	GJA1	TNRC6B	CDH11	ALPL	NOTCH2	KAT6A	MMP9	CUL4B	RMRP	HUWE1	CCBE1	GHR	BBS1	TANC2	BPNT2	TBX3	KIF5C	GPX4	DDX6	TRAPPC2	BCAS3	KCNAB2	TBX15	MADD	ARL6	SF3B4	PALS1	BMP2	HYLS1	NANS	B3GALT6	NPR2	COG1	PIGS	TUBB3	ACTL6A	CTC1	MMP23B	POLR3A	CDC45	PITX1	MIA3	PDPN	ZNF407	MAP3K7	GJB2	ALG12	NOTCH1	STXBP1	NSUN2	DACT1	ADA	PORCN	PWAR1	MASP1	HS2ST1	ANKRD17	AFF3	SRCAP	HSPG2	DCHS1	FGFRL1	SLC35D1	SPEN	HTT	TTC21B	FBXL4	NIPBL	DCLRE1C	RIPK4	CCDC47	IL2RG	USP7	PTHLH	DYM	AIFM1	DYNC2I2	GPC6	ZSWIM6	PIK3C2A	CHST3	KDM5C	SIM1	RAB33B	HBA2	TWIST1	RAB23	FMR1	PEX7	CASZ1	CHST11	ADAMTS2	TCTN3	TRAF3IP1	IDUA	LMBRD2	HINT1	PRKG2	TNNT3	NGLY1	ROR2	IFT122	SHROOM4	DYNC2LI1	MTX2	KCNJ8	HERC2	KCNJ5	HEPHL1	LUZP1	ATP7A	PWRN1	SLC35A2	MBD5	ZMYM2	EZH2	SON	GABRD	SKI	DLX5	TP63	TRAPPC4	GJB6	GLI3	WNT10B	JARID2	ADAMTSL2	SPART
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	FAM50A	WDR81	LMNA	SMAD4	OFD1	IL7R	NTNG2	ZMIZ1	TBCE	LZTFL1	TRMT1	EOGT	CCDC28B	DLK1	NDN	RAG2	GPC3	ABCC9	FBN1	LMBR1	SNRPN	ARSL	CHSY1	DOCK3	MAPK8IP3	FBXO11	MED27	IFT140	HDAC4	NELFA	SATB2	GPC4	RAG1	BMPR1B	LETM1	PRMT7	SALL4	GNAS	RSPRY1	MYCN	HOXD13	ACTL6B	EMC10	SLC26A2	FGFR2	DPYSL5	NEK1	SMC3	PTPN23	BHLHA9	TRIP12	SMC1A	PHYH	ARHGAP31	MEG3	CPLX1	KCNMA1	NTNG1	SLC35C1	COG4	PPM1D	WNT7A	FBXW11	WDFY3	ALMS1	MKRN3	BPTF	SMOC1	DYNC2I1	TCF20	FLNA	MAGEL2	PDE4D	HDAC6	RTL1	TONSL	PIGV	TELO2	PRDM16	ARID1B	PIGN	BCORL1	RLIM	KCNN3	NPAP1	IFT52	GALNT2	DHCR7	NOG	NSD2	TRIP11	ALOXE3	FGFR1	CCDC32	FAT4	DYRK1A	TBL1XR1	MYT1L	FIG4	OCA2	HBA1	ATP6V1B2	COL3A1	FGD1	PIGF	PIK3CD	CAMK2G	RAD21	RERE	COL2A1	TRRAP	ASXL1	DLL4	VPS13B	USP9X	SLC12A2	RAB3GAP2	KCNH1	MECP2	IFT172	UBR7	KMT2E	HOXA13	LIG4	MGP	BRD4	GRIA4	PIGL	HPDL	KCNJ2	DYNC2H1	DOCK6	IFT80	TRPV4	CTBP1	CDKL5	WDR19	MSL3	LTBP3	GRIP1	TCF7L2	RNU4ATAC	FLNB	PUS7	GDF5	HDAC8	FLI1	DNMT3A	COL11A1	SIL1	SYNCRIP	SMARCA2	POC1A	AGO2	SALL1	IGF1R	TCF4	PHF6	RNF2	TRPS1	SNORD115-1	SPTBN1	B3GLCT	SATB1	CNOT3	UBE2A	IHH	GABBR2	KAT8	ACVR1	SETD1A	KMT2A	SNORD116-1	COX4I1	WASF1	SVBP	LRP4	WDR35	CANT1	PIGG	SRY	VPS35L	KDM4B	SOX9	ASAH1	TBC1D24	APC	PSMD12	MED13	CTSK	SPECC1L	C12orf57	PRKAR1A	CLCN3	LAS1L	CEP120	VAC14	TBX22	PUF60	BGN	ALOX12B	PRKCZ	CENPE	RBPJ	UBE4B	KNSTRN	SHOX	CERT1	GJA1	TNRC6B	NOTCH2	KAT6A	CUL4B	RMRP	HUWE1	CCBE1	GHR	BBS1	TANC2	BPNT2	TBX3	KIF5C	FGFR3	GPX4	DDX6	BCAS3	KCNAB2	INPPL1	MADD	ARL6	PALS1	BMP2	NPR2	COG1	PIGS	TUBB3	ACTL6A	MMP23B	MIA3	PDPN	ZNF407	MAP3K7	NOTCH1	NSUN2	DACT1	ADA	PORCN	PWAR1	MASP1	HS2ST1	ANKRD17	SRCAP	HSPG2	DCHS1	FGFRL1	SPEN	HTT	TTC21B	FBXL4	NIPBL	DCLRE1C	RIPK4	CCDC47	IL2RG	USP7	PTHLH	RECQL4	PTH1R	DYM	DYNC2I2	KDM5C	SIM1	RAB33B	HBA2	CHD7	TWIST1	RAB23	FMR1	PEX7	CASZ1	CHST11	ADAMTS2	LMBRD2	HINT1	PRKG2	TNNT3	NGLY1	ROR2	IFT122	SHROOM4	DYNC2LI1	KCNJ8	HERC2	KCNJ5	HEPHL1	LUZP1	PWRN1	MBD5	ZMYM2	EZH2	SF3B4	SON	GABRD	SKI	DLX5	TP63	TRAPPC4	GLI3	WNT10B	JARID2	ADAMTSL2	SPART
HP_APLASIA_HYPOPLASIA_OF_THE_ULNA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_ULNA	FLNB	FANCM	TBX3	EXOC6B	DHODH	CUL7	VPS35L	RECQL4	RAD51	PALB2	SHOX	SALL4	UBE2T	IHH	COL2A1	RBM8A	MAD2L2	SF3B4	FANCA	LMBR1	FANCC	BRIP1	APC	FANCG	GDF5	WNT7A	CCDC8	PIGT	FGFR2	FANCF	BHLHA9	ERCC4	CHST3	SLX4	FANCD2	BMPR1B	DYNC2H1	SCARF2	FGFR3	B2M	RFWD3	JAG1	TBX5	FGF10	OBSL1	BRCA2	XRCC2	CHD7	RPL26	PRKAR1A	FANCB	FANCL	RAD51C	BRCA1	FANCE	FANCI	LRP4	SEMA3E	PDE4D
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	FAM50A	SEM1	LMNB2	UNC80	MECP2	TBCE	CLCN4	DLK1	NDN	RB1	XYLT1	SALL4	GPC3	LMBR1	FANCC	SNRPN	BCOR	CHSY1	HDAC4	PIGW	TGFB1	FANCF	UBE2T	ERCC4	FANCD2	RBM10	BMPR1B	FZD2	DYNC2H1	WDR19	BRIP1	ZIC3	RAD51C	GNAS	RSPRY1	FGF10	PEX7	AGPS	RPL10	EVC2	HOXD13	ESCO2	CRKL	FRAS1	HESX1	GJA1	LRP4	SMC3	SEMA3E	BHLHA9	MMP13	DHODH	GMNN	SMARCB1	FKBP10	MEG3	WIPI2	CPLX1	RMRP	MAD2L2	FANCA	COG4	RPL27	SMC1A	FANCB	WNT7A	KNSTRN	KDM6A	DYNC2LI1	PIK3C2A	ALMS1	RPL35A	RAI1	SMOC1	DYNC2I1	RPS26	NIPBL	CD96	FLNA	IFT81	MAGEL2	KCNA1	PDE4D	ZNF711	RTL1	TONSL	TELO2	ARID1B	RPS15A	WDR35	PITX1	JAG1	SEMA5A	MEIS2	GATA1	LMNA	SLCO2A1	RNU4ATAC	KCNN3	MAP3K7	NPAP1	GALNT2	DHCR7	GNPTAB	TRIP11	GDF5	PIGN	STAMBP	ALOXE3	RPS6KA3	USP9X	FIG4	OCA2	PKDCC	RPL15	NOG	PIK3CD	LONP1	KAT6B	RAD21	GLI3	COL2A1	VPS13B	FERMT1	ATP6V1B2	KCNH1	LBR	HOXA13	MGP	PIGB	BRD4	PIGL	SLC26A2	EDA	SMARCD1	DOCK6	SLC6A17	RUNX2	SNIP1	FGFR3	FBN1	CDKL5	ANAPC1	PDE3A	FANCE	MSL3	ALG6	ACTL6B	CHRND	PNKP	HDAC8	SIL1	TWIST2	SCN1B	POC1A	MATN3	CRLF1	PTCH1	IGF1R	RPS19	FGFR1	PTDSS1	TCF4	GGCX	PIK3R1	CCDC8	ADAMTS10	PIGT	WNT10B	EIF2AK3	SNORD115-1	DLL4	DYNC1H1	ANTXR2	TRPV4	CHST3	GPX4	MAPRE2	USP27X	XRCC2	PLXND1	GABBR2	ZNF81	KIAA0753	AFF4	COX4I1	RECQL4	BRCA1	ACP5	TNNT3	SVBP	KCNJ2	CANT1	PIGG	KDM4B	FLNB	COMP	IFT122	RIPK4	DONSON	ASAH1	CTBP1	MEGF8	TFAP2A	PSMD12	PRKAR1A	ZMIZ1	FGD1	TBC1D24	RPS28	CENPE	EXT1	TBX3	FANCI	RPL35	NALCN	SHOX	RPL5	SCUBE3	CUL4B	CCBE1	EN1	CDKN1C	BPNT2	ADNP	ORC1	LHX4	TFAP2B	CRIPT	PALB2	INPPL1	IHH	PIGQ	SF3B4	DMD	HYLS1	COG1	FANCG	ZMPSTE24	PIGS	ACSL4	BMP2	SLC39A13	ARX	HDAC6	CUL7	SETBP1	ALG12	NOTCH1	GSC	NSUN2	TSPAN7	MAPK1	MED12	MASP1	SHH	RFWD3	IL1RAPL1	ABCA12	USP7	BPTF	PHF6	PTH1R	DYM	DLX5	GPC6	PGAP3	SLX4	CNOT3	KIFBP	PCYT1A	PIGY	DVL3	FMR1	RNF2	TP63	INPP5K	PRKG2	SIN3A	ROR2	PCGF2	KCNJ8	HERC2	SOX11	MBD5	UPF3B	GPC4	ZMYM2	RPL31	CTNND2	PTCHD1	SON	RPS29	B3GLCT	RPL11	TSR2	ACAN	EXTL3	SH3PXD2B	RBM8A	DVL1	SPECC1L	HCFC1	KLHL15	ADAMTSL2	CWC27	WDR81	SMAD4	EXOC6B	RAD51	ABCC9	MMP9	EVC	SCN2A	ARSL	MAPK8IP3	FBXO11	KDM1A	SUCLG1	NELFA	RPL18	TRIO	YY1AP1	SATB2	PEX5	LETM1	COL11A2	EXT2	MYCN	CHRNG	SMARCA4	DDR2	FTSJ1	OBSL1	CHD7	FANCL	PTCH2	NEK1	GNAO1	COL9A3	PLAG1	SLC25A24	KDM5C	WAC	ARHGAP31	COL10A1	NTNG1	MTX2	ARHGEF6	HPGD	CHUK	PPM1D	ARID1A	IQSEC2	FGFR2	MKRN3	RPS10	NEPRO	POR	PIGV	SMARCE1	MTOR	NXN	POU1F1	NHS	IFT52	NSD2	FAT4	SNRPB	TBL1XR1	PRMT7	ATP7A	COL3A1	CCNQ	TPM2	PIGF	FBXL3	CAMK2G	SMARCA2	RAB3GAP2	LIG4	LTBP3	DLG3	KIF22	BICRA	IRX5	HMGA2	BMP4	MACROH2A1	ATR	PGAP2	IFT80	LTBP2	RBBP8	FRMPD4	SIK1	RAB39B	REV3L	CDK10	GRM7	MRPS28	DMXL2	COL11A1	RPS24	CASK	AGTR2	BTRC	WNT5A	ADA2	HHAT	FN1	TRPS1	PIGO	SATB1	B2M	MYSM1	CHRNA1	BRCA2	KMT2A	PAK3	SNORD116-1	PHYH	ACVR1	RSPO2	FGF9	EOGT	SUFU	SRY	VPS35L	ARID2	NEUROD2	MCTP2	APC	ZNF41	EIF4A3	CTSK	GDI1	CNOT2	IGF2	ALDH18A1	RPS17	RPS7	VAC14	PUF60	BGN	PROP1	ALOX12B	KMT2D	RBPJ	WRN	EPS15L1	SLC9A7	GLI1	CUL3	CDH11	NOTCH2	HUWE1	CNKSR2	RPS27	ZNF699	INTU	KIF5C	SOX4	LHX3	SMARCC2	GNPAT	RPS20	NANS	B3GALT6	NPR2	RAC1	TUBB3	POLR3A	NIN	SYP	KIF15	CLCN7	DPM1	MYH3	GNB2	GNAS-AS1	LAS1L	PORCN	RPL26	IFT57	PWAR1	AP1G1	MAFB	CHN1	IFT43	FANCM	TRIM8	DCHS1	FGFRL1	TNNI2	HTT	NFIX	PTHLH	PUM1	P3H1	AIFM1	DPF2	DYNC2I2	OFD1	MIR17HG	ZBTB20	SIM1	MID2	RAB33B	SCARF2	CCDC22	SRCAP	DNMT3A	CHST11	KRAS	ALG13	MECOM	STEEP1	NGLY1	SHROOM4	BCR	MIR140	TCTN3	DPH1	KCNJ5	PPP2R3C	IKBKG	PWRN1	TBX5	COL9A2	PIGP	PCNT	SLC25A22	EDA2R	DLX6	STX16
HP_APLASIA_HYPOPLASIA_OF_THE_PATELLA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_PATELLA	ORC1	SHOX	RECQL4	LMX1B	GJB2	GMNN	ORC4	CDC6	STXBP1	KAT6B	CDT1	PRMT7	GDF5	FKBP10	CHRNG	ESCO2	ARID1B	DONSON	RBM8A	ORC6	TBX4	LMBR1	ANAPC1	GJB6	CDC45	ZSWIM6	UBR7	WNT7A	PITX1	BHLHA9
HP_ABNORMALITY_OF_LOWER_LIMB_EPIPHYSIS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_LOWER_LIMB_EPIPHYSIS_MORPHOLOGY	RTL1	EFL1	RINT1	COL1A1	UFSP2	COMP	EXTL3	COL1A2	COL2A1	TSHB	KIAA0586	SIL1	COL9A1	ARSL	SMARCAL1	DYM	AIFM1	CANT1	RSPRY1	COL11A2	UNC45A	CHST3	PROP1	KIF22	PEX5	CREBBP	TSHR	GNPTG	DVL3	SRP54	SRCAP	MEG3	SLC39A13	HSPG2	ACAN	HS2ST1	INPP5K	ADAMTSL2	TRPS1	TREX1	CDC6	TG	SLC2A10	RNU4ATAC	COL9A2	FZD2	LHX4	LHX3	SBDS	TRAPPC2	PLOD3	DUOX2	IHH	HESX1	WNT5A	MATN3	COL10A1	EP300	B3GALT6	TBX4	TPO	ATP7A	ADAMTS2	TONSL	CCN6	DNAJC21	FN1	IYD	PIK3C2A	EIF2AK3	COL11A1	COL9A3	SLC26A2	EXT1	IFT140	TRPV4	DLK1	DUOXA2	CSPP1	POU1F1	SLC5A5	PCNT	DVL1	RET	RPL13
HP_APLASIA_HYPOPLASIA_OF_THE_RADIUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_RADIUS	TRIP11	RFWD3	FANCM	FGFR1	CCNQ	DONSON	TPM2	DHCR7	TNNI2	RAD51	RIPK4	SALL4	ESCO2	MMP9	RBM8A	FLNB	LMBR1	FANCC	BRIP1	APC	DHODH	EIF4A3	RECQL4	TGFB1	TRIO	FANCF	ERCC4	SLX4	FANCD2	RBM10	MACROH2A1	ATR	FANCI	FANCB	ZIC3	RAD51C	NALCN	FGF10	RPS19	SHOX	CHD7	HOXD13	FGFR3	FANCL	REV3L	FANCE	FANCA	LRP4	SEMA3E	TBX3	MMP13	FKBP10	PALB2	UBE2T	IHH	MAD2L2	SF3B4	FGFR2	NPR2	FANCG	WNT7A	NIPBL	IFT81	ALG12	GDF5	MYH3	TBX5	PITX1	BRCA2	XRCC2	PLXND1	RPL26	PRKAR1A	AFF4	BRCA1	MAFB	TNNT3	SHH	CHN1	GLI3	PDE4D
HP_APLASIA_HYPOPLASIA_INVOLVING_THE_CARPAL_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_CARPAL_BONES	NANS	TRPV4	LMBR1	KIF22	XRCC2	EXOC6B	GNPTAB	WNT7A	DYM	RECQL4	RBM8A	COMP	SALL4	EIF2AK3	RSPRY1	ALDH18A1
HP_APLASIA_HYPOPLASIA_INVOLVING_FOREARM_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_FOREARM_BONES	TRIP11	RFWD3	FANCM	FGFR1	CCNQ	EXOC6B	DONSON	TPM2	DHCR7	CUL7	VPS35L	TNNI2	RAD51	RIPK4	SALL4	ESCO2	MMP9	COL2A1	RBM8A	FLNB	LMBR1	FANCC	BRIP1	APC	DHODH	EIF4A3	RECQL4	TGFB1	TRIO	FANCF	BHLHA9	ERCC4	CHST3	SLX4	FANCD2	RBM10	BMPR1B	EXT1	TBX3	DYNC2H1	SCARF2	MACROH2A1	ATR	FANCI	FANCB	ZIC3	EXT2	RAD51C	NALCN	FGF10	RPS19	SHOX	CHD7	HOXD13	FGFR3	FANCL	REV3L	FANCE	FANCA	LRP4	SEMA3E	MMP13	FKBP10	PALB2	UBE2T	IHH	MAD2L2	SF3B4	FGFR2	NPR2	FANCG	GDF5	WNT7A	CCDC8	PIGT	NIPBL	IFT81	ALG12	B2M	MYH3	TBX5	PITX1	JAG1	OBSL1	BRCA2	XRCC2	PLXND1	RPL26	PRKAR1A	AFF4	BRCA1	MAFB	TNNT3	SHH	CHN1	GLI3	PDE4D
HP_ABNORMALITY_OF_LIMB_EPIPHYSIS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_LIMB_EPIPHYSIS_MORPHOLOGY	RTL1	EFL1	RINT1	RUNX2	GDF5	COL1A1	CPLX1	FGFRL1	FGFR3	UFSP2	COMP	SRCAP	EXTL3	COL1A2	COL2A1	TSHB	NKX3-2	KIAA0586	SIL1	COL9A1	ARSL	KCNH1	CTBP1	IHH	SMARCAL1	DYM	AIFM1	CANT1	RSPRY1	COL11A2	UNC45A	TRIP11	PRKAR1A	CHST3	MGP	BGN	PROP1	KIF22	IFT140	PEX5	CREBBP	TSHR	GNPTG	DVL3	SLC26A2	SRP54	ATR	MEG3	RAB23	SLC39A13	HSPG2	ERCC6	BMPR1B	TRPV4	ACAN	HS2ST1	INPP5K	ADAMTSL2	TRPS1	EVC2	COG4	TREX1	CDC6	FLNA	TG	NEK1	SLC2A10	RMRP	FLNB	RNU4ATAC	MRPS28	EVC	COL9A2	GPX4	FZD2	TRAPPC2	LHX4	LHX3	SBDS	PLOD3	ERCC8	DUOX2	GNPAT	HESX1	WNT5A	MATN3	COL10A1	EP300	LETM1	SALL1	B3GALT6	NPR2	TBX4	TPO	ATP7A	ADAMTS2	TONSL	CCN6	DNAJC21	FN1	IYD	PIK3C2A	NPR3	EIF2AK3	COL11A1	COL9A3	KIF15	MIA3	EXT1	POR	DLK1	DUOXA2	CSPP1	IFIH1	POU1F1	SLC5A5	PCNT	IFT172	IFT52	NSD2	RPS6KA3	DVL1	RET	RPL13
HP_APLASIA_HYPOPLASIA_OF_THE_HUMERUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_HUMERUS	FLNB	IFT122	TBX3	PEX5	ALG12	FZD2	LONP1	LMBR1	GSC	RECQL4	GDF5	MYSM1	FANCB	ZIC3	TBX5	IHH	GNPAT	SALL4	RBM8A	AGPS	RNU4ATAC	ATP7A	NOG	KIAA0753	SUCLG1	SNRPB	GPC6	POLR3A	FLNA
HP_ABNORMALITY_OF_TIBIAL_EPIPHYSES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_TIBIAL_EPIPHYSES	DLK1	RTL1	COL11A1	MEG3	COL2A1
HP_CHRONIC_PULMONARY_OBSTRUCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_PULMONARY_OBSTRUCTION	TBX1	MMP1	COMT	NCF1	HIRA	MYH7	CYBA	MPEG1	CYBB	NFKB1	DNAAF4	NCF2	ARVCF	SEC24C	PRTN3	CTLA4	RAC2	RREB1	BLM	GLA	WAS	WIPF1	SERPINA1	GP1BB	HLA-DPA1	UFD1	CYBC1	HMOX1	NCF4	ALMS1	MCIDAS	CARMIL2	PTPN22	HLA-DPB1	JMJD1C
HP_LARYNGEAL_STRIDOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARYNGEAL_STRIDOR	UBE3B	ASAH1	PLP1	BRF1	BTD	TAF1
HP_INTERSTITIAL_PNEUMONITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERSTITIAL_PNEUMONITIS	TERT	STAT5B	TERC	HLA-DPB1	ABCA3	STAT3	FOXP3	TINF2	RAG1	SFTPC	PLCG2	SFTPB
HP_INTRAALVEOLAR_PHOSPHOLIPID_ACCUMULATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRAALVEOLAR_PHOSPHOLIPID_ACCUMULATION	SLC7A7	CSF2RA	CSF2RB	MARS1	ABCA3	SFTPB	SFTPC	HLA-DRB1
HP_ALVEOLAR_CELL_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALVEOLAR_CELL_CARCINOMA	KRAS	CASP8	FASLG	SFTPC	EGFR	PRKN	ERCC6	SLC22A18	ERBB2	BRAF	MUC5B	IRF1	MAP3K8	SFTPA2	CYP2A6	TERT	PIK3CA	PPP2R1B
HP_PROGRESSIVE_PULMONARY_FUNCTION_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_PULMONARY_FUNCTION_IMPAIRMENT	TRAF7	TERT	SUFU	SLC34A2	PDGFB	SMO	SMARCE1	SMARCB1	NF2	SMPD1	AKT1	BAP1	PIK3CA
HP_PULMONARY_LYMPHANGIECTASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_LYMPHANGIECTASIA	CCBE1	SOX18	FAT4	FOXF1	ADAMTS3
HP_CHRONIC_LUNG_DISEASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_LUNG_DISEASE	TGFB1	DLL1	GLI2	PTCH1	TDGF1	NODAL	FCGR2A	BLM	RIPK1	GAS1	SHH	FOXH1	KIAA0586	FOXE1	STIL	ZIC2	SIX3	LAT	CTCF	AFF4	SMC1A	TGIF1	STAG2	FGFR1	CDON	HABP2	DISP1	FGF8	LRRC56	SFTPB	MINPP1	CSPP1	PEPD	ITCH	LRBA	ZNF699	SERPINH1	CFTR
HP_ABNORMAL_PULMONARY_INTERSTITIAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PULMONARY_INTERSTITIAL_MORPHOLOGY	HYDIN	FASLG	TERC	ZMYND10	IRF5	DRC1	BMP15	SFTPB	STING1	CCDC40	GBA	TINF2	PRKCD	PARN	ASAH1	CTLA4	DNAAF2	COPA	TTC12	TERT	BTNL2	ABCA3	PLCG2	CFAP298	ODAD4	SFTPA1	LRRC56	GAS8	RSPH1	DNAAF3	SLC26A9	ZCCHC8	BACH2	CASP10	CCN2	OFD1	MARS1	UNC119	DCTN4	NHP2	MUC5B	ERF	SPEF2	RTEL1	DNAH1	SFTPA2	AP3D1	NSMCE3	DSP	NOP10	DNAI1	RSPH3	BNC1	DKC1	MCIDAS	CFTR	PLEC	EHHADH	HPS1	MIF	CFAP300	STAT3	EDNRA	HLA-DPA1	TGFB1	RSPH9	CAV1	IL1RN	DNAAF1	SLC9A3	NKX2-1	ODAD3	PSMC3IP	SLC34A2	EIF2AK4	ATP11A	NUP107	COL3A1	DNAJB13	GCLC	RNF168	FSHR	NR5A1	MRPS22	FAM111B	PTPN22	DNAAF6	GATM	SP110	STN1	SCARB2	CEACAM6	SPIDR	DNAH5	SMPD1	CLCA4	STK36	SLC34A1	STXBP2	DNAAF11	POLR3H	SPAG1	SFTPC	ODAD1	CCR6	DNAL1	RASGRP1	HFE	CCDC39	CCNO	HLA-DRB1	FARSB	HMOX1	HPS4	FOXJ1	DNAAF4	NDUFAF6	DNAAF5	BMPR2	RPGR	RSPH4A	STX1A	IL2RA	DNAH9	FARSA	CCDC65	RAC2	AP3B1	CSF2RB	TOM1	DNAI2	SLC6A14	FOXP3	ITGA3	HLA-B	CEACAM3	CYBC1	FAS	RCBTB1	FAM13A	GAS2L2	CCDC103	PRTN3	KIAA0319L	ODAD2	HLA-DPB1	NEK10	CSF2RA	ZNFX1	RAG1	KCNN4	STAT5B	THOC2	SLC11A1	DPP9	GSTM3	DNAH11	NME8	SERPINA1	CFAP221
HP_RECURRENT_PNEUMONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_PNEUMONIA	CYBA	TGFB1	ALMS1	PLOD1	EFEMP2	WAS	ICOS	FCGR2A	PURA	KCNJ6	POLA1	DRC1	CCDC39	ODAD2	LMNB1	B3GALT6	GAS8	CD19	SMARCD2	GNPTAB	COL11A2	DZIP1L	CYBB	MTHFD1	CD79B	IGKC	PGM3	ALG12	FBLN5	USB1	WDR19	JAK3	TNFRSF13C	NFKB1	CD3D	EGFR	NFKB2	TBCD	DDR2	PIK3CD	NCF2	RAC2	IGHG2	AP3B1	CD247	UNC119	KPTN	RNF168	VPS33A	BLNK	IDH1	LTBP1	NCF1	CFTR	RNU4ATAC	P4HTM	CD27	SIAH1	CYBC1	IGLL1	IGBP1	CD3E	STAT3	MASP2	AASS	FMO3	NBN	SREBF1	IL2RG	SFTPC	IL21R	LAT	FCHO1	ODAD1	RAC1	SMARCA2	STK36	SLC35C1	PKP1	TNFRSF13B	CR2	CFAP410	IGHM	NKX2-1	CXCR4	CCDC40	SETBP1	BTK	TK2	ZNFX1	MED25	TONSL	WDR1	ADA	ORC6	DNAH11	PEPD	LEP	EXTL3	LRBA	CARMIL2	PKHD1	TNFRSF11A
HP_RECURRENT_INTRAPULMONARY_HEMORRHAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_INTRAPULMONARY_HEMORRHAGE	PRTN3	CTLA4	COL3A1	WAS	WIPF1	HLA-DPA1	PTPN22	HLA-DPB1
HP_AIRWAY_OBSTRUCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AIRWAY_OBSTRUCTION	HYDIN	SCNN1G	APC	ENG	IDS	ZMYND10	COMT	POR	DRC1	CCDC40	NCF1	XPNPEP2	CYBA	KCNJ6	DNAH5	DDRGK1	DNAAF4	FGFR2	TBX20	STK36	CFTR	DNAAF11	TBX1	CTLA4	DNAAF2	SPAG1	ODAD1	DNASE1L3	SERPINA1	DNAL1	TTC12	CCDC39	BTNL2	CCNO	HMOX1	VPS33A	AHDC1	SCNN1A	FGFR3	ZSWIM6	GNE	NKX2-5	CFAP298	FOXJ1	MMP1	MGP	ODAD4	GLA	DNAAF5	LRRC56	GAS8	RPGR	RSPH4A	MYH7	ZMPSTE24	MPEG1	CYBB	NFKB1	CITED2	RSPH1	DNAAF3	DNAH9	CCDC65	NCF2	ARVCF	RAC2	OFD1	BLM	WAS	WIPF1	UFD1	LMNA	DNAI2	MYH6	ACTC1	SPEF2	F12	DNAH1	JMJD1C	SOX9	SH3BP2	DNAI1	RSPH3	HIRA	MCIDAS	GATA6	GAS2L2	CCDC103	PRTN3	CFAP300	HLA-DPA1	RSPH9	KIF22	ALMS1	ODAD2	GUSB	HLA-DPB1	DNAAF1	NEK10	GATA4	ODAD3	COL11A1	TLL1	DNAJB13	SEC24C	DNAH11	SCNN1B	RREB1	GP1BB	HLA-DRB1	CYBC1	NME8	NCF4	CFAP221	CARMIL2	PTPN22	DNAAF6
HP_RECURRENT_BRONCHOPULMONARY_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_BRONCHOPULMONARY_INFECTIONS	TGFB1	MPLKIP	GTF2E2	ERCC2	GTF2H5	LAMTOR2	TARS1	FCGR2A	VPS33A	ERCC3	CFTR	RNF113A
HP_CARDIORESPIRATORY_ARREST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIORESPIRATORY_ARREST	DDC	MYL2	TSPYL1	B3GALT6	GPX4	KIT	SLC2A10	SLC25A20	EXOC6B	LAMP2	COL2A1
HP_UNILATERAL_PRIMARY_PULMONARY_DYSGENESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNILATERAL_PRIMARY_PULMONARY_DYSGENESIS	TBX1	ESS2	DGCR8	DGCR6	DGCR2
HP_ACUTE_HEPATIC_FAILURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_HEPATIC_FAILURE	RINT1	GFM1	ZNFX1	MPV17	MEFV	ATP7B	NBAS	FAH	CALR	TRMU	SCYL1	EIF2AK3	GPR35	XIAP	IKZF1	RYR1	ACAD9	HADH	LIPA	MST1	ITCH	F5	LARS1	JAK2	SEMA4D	CACNA1S	PORCN	TCF4	CYC1	IL18BP	HLA-B	SH2D1A
HP_POLYCYSTIC_LIVER_DISEASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYCYSTIC_LIVER_DISEASE	LRP5	GANAB	SEC63	PKD2	BICC1	ALG9	DNAJB11	PRKCSH	PKD1
HP_LIPID_ACCUMULATION_IN_HEPATOCYTES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIPID_ACCUMULATION_IN_HEPATOCYTES	AKR1D1	ALMS1	SAR1B	RINT1	SLC22A5	TRAPPC11	SLC25A13	MRPL3	HSPG2	MPV17	ACADM	LIPE	GPD1	SPEN	RERE	ETFDH	DPM1	ACAD9	VPS4A	LYRM4	CAVIN1	FBP1	PDE8B	DDOST	MICOS13	SLC40A1	COA8	POLG	NGLY1	FARSB	HADHA	SUCLG1	NSMCE2	UNC45A	SCO1	APOB	LIG3	CAV1	BCS1L	PNPLA2	LDLRAP1	CPT2	PLIN1	HSD17B4	CLPB	PRKCZ	HADHB	HNRNPA2B1	ALDOB	DGUOK	PCK1	TMEM199	TARS2	XRCC4	DNAJC19	UBE4B	CPT1A	FARSA	ETFB	LMNA	RRM2B	ABHD5	CASZ1	PPARG	VCP	HADH	MARS1	DEF6	VPS33A	NFS1	ADK	PCK2	LRPPRC	ACADS	ATP6AP1	PHKG2	ABCG5	MT-TN	HNRNPA1	RNU7-1	ABCG8	PRKAR1A	PDE11A	CARS2	FOS	SLC37A4	MTX2	TFAM	ATP7B	KCNAB2	BSCL2	LDLR	PGM1	CYP7A1	AGPAT2	ACADVL	MCCC1	LUZP1	LIPA	TKFC	CBS	SPTBN1	SURF1	NDUFAF1	MMP23B	COX15	PMM2	POLR3A	RMND1	PRKACA	MTTP	IARS1	MRPL44	POLD1	PDPN	PHKA2	SLC25A20	ARMC5	HNF1B	ACOX1	PRDM16	PCSK9	GNB2	GABRD	SKI	EARS2	ATP6AP2	YARS1	TRMU	CYP19A1	CIDEC	GNAS	CEP19	TYMP	ETFA	LMNB2	LARS1	PTRH2	HMGCL	MRPS7	APOE	AKT2	ZPR1
HP_VIRAL_HEPATITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VIRAL_HEPATITIS	APC	CIITA	IGKC	AXIN1	MET	CTNNB1	IGHG2	TP53	RFX5	CASP8	IGF2R	PDGFRL	PIK3CA	RFXANK	BTK	RFXAP
HP_INCREASED_HEPATIC_GLYCOGEN_CONTENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_HEPATIC_GLYCOGEN_CONTENT	AKT2	PYGL	SLC2A2	HNF4A	PHKB	SLC37A4	SDHA	PGM1	PHKG2
HP_SUBACUTE_PROGRESSIVE_VIRAL_HEPATITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBACUTE_PROGRESSIVE_VIRAL_HEPATITIS	APC	AXIN1	MET	CTNNB1	CASP8	IGF2R	PDGFRL	TP53	PIK3CA
HP_PROLONGED_NEONATAL_JAUNDICE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLONGED_NEONATAL_JAUNDICE	AKR1D1	SLC44A1	APC2	PKLR	RNASEH2B	MPV17	LHX4	LHX3	KMT2E	SPOP	DUOX2	SLC10A1	SETD2	TRHR	HESX1	ADAR	TSHB	G6PD	NPC1	POU1F1	PRPS1	ARL13B	CTCF	TPO	PEX1	CPOX	IYD	GYPC	MED12	UNC45A	UGT1A1	SPTB	TTC26	PROP1	PEX3	TSHR	SLC16A2	TREX1	SLC51B	GALM	DUOXA2	JAG1	AMACR	CCDC115	SLC37A4	YARS1	HYOU1	CYP27A1	SLC5A5	CDAN1	RNU4ATAC	SMPD1	PEPD	NPC2	GALK1	RNASEH2A	TBX19	SPTA1	RNASEH2C	TG	NSD1	ATP7A	ATP6AP1	IFIH1	EPB41	ADAMTS13	CASK	SAMHD1	PARS2
HP_PORTAL_FIBROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PORTAL_FIBROSIS	ADK	ARG1	CEP83	WDR35	UNC45A	PHKA2	PHKG2	PYGL	ABCB4	ABCD3	RPGRIP1L	CC2D2A
HP_DIAPHRAGMATIC_PARALYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIAPHRAGMATIC_PARALYSIS	MORC2	TPI1	GAA	MEGF10	BAG3	IGHMBP2
HP_WIDE_INTERMAMILLARY_DISTANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDE_INTERMAMILLARY_DISTANCE	RTL1	RASA2	SRY	ADNP	DHCR7	TACR3	EED	ABCD4	IGF1R	RIPK4	FGF17	RRAS	GPC3	SMARCA2	TP63	ASXL1	RIT1	KIAA0586	RAF1	COX7B	KRAS	SPRY4	MEGF8	SOS1	HNRNPK	HDAC4	FRAS1	GNPTAB	TFAP2A	NUP188	AMER1	OFD1	CPT2	GPC4	CHST3	INTU	MAB21L1	KIFBP	SPRED2	TUBB	SMPD4	RAB18	KANSL1	MEG3	LZTR1	CHD7	FGF8	PACS1	ARCN1	CERT1	NECTIN1	WDR11	RRAS2	HS6ST1	FGFR1	KAT6A	ERMARD	WDR37	GNRH1	TOGARAM1	UBE2A	IDH1	CILK1	DUSP6	GATA4	ARHGEF2	GNRHR	PROK2	KATNB1	MADD	TBL1XR1	KISS1R	FREM2	MRAS	PPP1CB	CBL	PIK3CD	COG1	SMS	IBA57	KNSTRN	ERCC6	NF1	KISS1	TAC3	NSMF	CDH11	B3GLCT	DLK1	GNB2	MAPRE2	CSPP1	ALG14	NRAS	PROKR2	SOS2	GRIP1	PIGN	WASF1	TMCO1	BRAF	ALG9	ZC4H2	AMMECR1	TRAF7	PTPN11	EXOC2
HP_ABSENT_STERNAL_OSSIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_STERNAL_OSSIFICATION	FIG4	ORC1	SOX9	ORC6	VAC14
HP_THORACIC_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACIC_DYSPLASIA	DYNC2I1	IFT172	WDR35	WDR19	DYNC2I2	NEK1
HP_THIN_CLAVICLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIN_CLAVICLES	LMNA	HHAT	TBCE	ZMPSTE24	PCNT	COL11A1
HP_RIB_SEGMENTATION_ABNORMALITIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIB_SEGMENTATION_ABNORMALITIES	MESP2	RIPPLY2	PIGG	CTBP1	LETM1	HES7	NSD2	CPLX1	FGFRL1	LFNG	NELFA	DLL3
HP_APLASTIC_CLAVICLE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASTIC_CLAVICLE	FIG4	ORC1	GMNN	RUNX2	CDT1	PTDSS1	ATP7A	KIAA0586	ORC4	CDC6	PIGL	CDC45	SALL4	RNU4ATAC	ORC6	PTH1R
HP_REDUCED_SYSTOLIC_FUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_SYSTOLIC_FUNCTION	SGCD	CSRP3	TPM3	RYR2	TKFC	TRDN	LIMS2	DES	ABCC9	DSP	JUP	PLN	JPH2	SCN5A	MYPN	TPM2	CASQ2
HP_PREMATURE_VENTRICULAR_CONTRACTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_VENTRICULAR_CONTRACTION	KCNJ5	RYR1	JUP	DPP6	TECRL	NAA10	RYR2	SLC25A20	TRDN	TNNI3K	DSP	CACNA1S	KCNJ2	SCN5A	TMEM43	CDH2	DSG2	CASQ2
HP_ENDOCARDIAL_FIBROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENDOCARDIAL_FIBROSIS	VCL	LDB3	SP110	ACTN2	MYL3	PDGFRA
HP_AORTIC_TORTUOSITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AORTIC_TORTUOSITY	SLC2A10	SMAD3	MFAP5	TGFB2	IPO8
HP_ATRIOVENTRICULAR_CANAL_DEFECT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATRIOVENTRICULAR_CANAL_DEFECT	GATA6	SUPT16H	GDF1	CCDC22	PRKACB	DHCR7	PKD1L1	WDPCP	VPS35L	LONP1	GATA4	ACVR2B	KDM6A	BRAF	HYLS1	WASHC5	DYNC2LI1	FOXF1	NR2F2	NODAL	TBX1	CDH2	CFC1	NKX2-6	CFAP45	CDC45	TRIO	MMP21	TTC26	KAT6B	PUF60	INTU	EVC	PTPN11	CCDC32	RAF1	TBX5	FANCB	ZIC3	LZTR1	GATA1	EVC2	NKX2-5	GJA1	GLI1	DEF6	NEK1	PRKACA	CRELD1	GLI3
HP_DILATATION_OF_THE_VENTRICULAR_CAVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DILATATION_OF_THE_VENTRICULAR_CAVITY	RYR2	NDE1	ELN	LTBP1	PKP2	EFEMP2	FBLN5	GMPPB	ALDH18A1	NPPA	RPL10
HP_PREMATURE_ATRIAL_CONTRACTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_ATRIAL_CONTRACTIONS	GJA5	TTN	CITED2	KCNE2	SCN5A
HP_APLASIA_HYPOPLASIA_OF_THE_LUNGS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_LUNGS	RTL1	PIGG	LMOD3	DYNC2I1	DONSON	DHCR7	B3GALT6	KAT6B	PLXND1	CHRM3	REN	ETFDH	TTC21B	LONP1	SPECC1L	RSPO2	KLHL41	ATP5F1A	MCTP2	FGFR3	CEP120	HSPG2	NEK9	FGF20	IFT172	NPHP3	IFT140	ZMPSTE24	DYNC2I2	NELFA	FRAS1	GREB1L	DZIP1L	TRIP11	AGT	INTU	RBM10	LIFR	INVS	PIGN	DOK7	LETM1	RAPSN	GLE1	ADGRG6	DYNC2H1	CHRNG	WT1	TRPV4	CC2D2A	TRIP4	MEG3	NDUFB10	COL2A1	NSD2	ACTA1	ETFB	SON	EVC2	SMO	LMNA	FANCB	GLI1	TCTN3	ITGA8	CTBP1	HOXD13	MKKS	LBR	SLC18A3	SLC26A2	AGTR1	DPAGT1	CHRND	RET	PIEZO2	PHGDH	NEB	SLC25A24	LGI4	ZFPM2	DYNC2LI1	VANGL1	MYRF	ASCC1	RARB	CPLX1	FREM2	NKX2-6	TAPT1	STRA6	RYR1	ALG3	PKHD1	MYH3	WNT9B	NUP88	GBA	MYOD1	PEX1	KIAA0586	AARS2	ALG9	COQ7	FAM20C	BMPER	FUZ	CDC45	PTH1R	WNT4	GLDN	FLNA	MYH11	FLNB	SETBP1	GPKOW	KLHL40	IFT81	TMEM94	MUSK	EVC	RLIM	DLK1	IFT80	GATA6	ACE	NAA10	CHRNA1	NEK1	MKS1	WDR19	WNT3	GRIP1	ETFA	NEK8	WDR35	BCOR	CSPP1	NSDHL	LTBP4	CEP55	PORCN
HP_ABNORMAL_CORONARY_ARTERY_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CORONARY_ARTERY_MORPHOLOGY	ABCG8	ENPP1	TGFBR1	PPARG	LOX	SMAD3	MLXIPL	PLXND1	ABCA1	MAT2A	SMPD1	SMAD4	APOA1	LDLR	ELN	NKX2-6	CYP7A1	TKT	SMAD2	ABCC6	NT5E	LMNA	MYH11	XYLT1	HGD	TGFB2	FOXE3	PPP1R17	GHR	APOB	PRKG1	APOA2	LDLRAP1	MYLK	LMX1B	XYLT2	ACTA2	EPHX2	PNPLA2	PCSK9	ERCC6	TGFB3	LIPC	GLB1	CYP27A1	LZTR1	DYRK1B	BRCC3	HEY2	ESR1	CEP19	ABCG5	SERPIND1	YY1AP1	NADSYN1	TGFBR2	KCNJ5	CELA2A	FBN1	ERCC8	ZNF687	APOE	MFAP5
HP_ABNORMAL_ATRIOVENTRICULAR_VALVE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ATRIOVENTRICULAR_VALVE_MORPHOLOGY	SACS	TTN	MLXIPL	COMT	KRAS	FGFR1	GATA6	GBA	TBX20	FREM1	FBN1	SMAD4	MCTP2	BRAF	GTF2I	BCOR	NCF1	ABCC6	ROR2	LIMK1	FBN2	YY1	XYLT1	HGD	EIF4H	DCHS1	NKX2-5	HCCS	MYPN	TBX1	FMR1	VWF	MMP2	FIBP	DSE	ZMPSTE24	ALG9	ZNF469	MYCN	SLC29A3	ARVCF	CHD7	COL1A2	TNXB	UFD1	LMNA	SLC6A6	COL5A2	SEMA3E	CHST3	NONO	TPM3	HIRA	MYRF	AEBP1	RPL5	BCL7B	ATP6V1E1	SKI	WASHC5	TGFBR1	HRAS	PKD1	NPR3	XYLT2	GATA4	SLC34A2	TAB2	SPRED1	GNB2	RAF1	FLNA	COL3A1	SMAD3	MFAP5	TLL1	NXN	SEC24C	METTL27	TBL2	MAP3K7	MAPK1	TGFBR2	BRF1	ZIC3	TPM2	GANAB	COL5A1	PLOD1	IDS	CCNQ	POLG	B3GALT6	ANK1	ELN	VPS13B	ENPP1	TMEM270	RFC2	FOXF1	B3GAT3	PKD2	COL1A1	FKBP6	RYR1	HCN4	STX1A	COL2A1	NOTCH1	PTPN11	LZTR1	CITED2	BAZ1B	BUD23	DNAJC30	MYH6	ACTC1	JMJD1C	BICC1	PLD1	GTF2IRD2	SELENON	CCDC22	PCGF2	MTX2	HNRNPH2	NF1	VPS37D	GJA1	CBS	MYH7	FMN2	DNAJB11	TGFB2	IPO8	CLIC2	MMP21	DZIP1	TMEM260	COX7B	MED12	MMP14	IFIH1	JPH2	PRDM5	SH3PXD2B	NDUFB11	RREB1	CLIP2	EXTL3	GP1BB	AGGF1	GTF2IRD1	RPS6KA3	LTBP3	GNPTAB
HP_CYSTIC_LIVER_DISEASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CYSTIC_LIVER_DISEASE	IFT122	LRP5	GANAB	B9D2	PKD2	BICC1	ALG8	TSC1	CC2D2A	OFD1	B9D1	CSPP1	CEP290	TMEM237	RPGRIP1	EXTL3	ALG9	DNAJB11	TMEM216	PRKCSH	TSC2	TCTN3	TTC21B	SEC63	PKHD1	TMEM107	WDR19	JAK1	TCTN2	NPHP3	PKD1	TXNDC15	TCTN1	TMEM67	TMEM231	RPGRIP1L	MKS1
HP_ABNORMALITY_OF_THE_HEPATIC_VASCULATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_HEPATIC_VASCULATURE	TNPO3	EOGT	RUNX1	ENG	TMEM67	RPGRIP1L	NEUROG3	IL12RB1	CBL	ABCD3	ACTG2	MLXIPL	RECQL4	ARHGAP31	GDF2	CLDN1	TJP2	CALR	GPR35	SMAD4	DLL4	GBE1	PKHD1	LIPA	MST1	JAK2	TET2	BTNL2	FARSB	SEMA4D	STOX1	DGUOK	ALMS1	ACVRL1	TNFSF15	TCF4	CC2D2A	MED12	MMEL1	DZIP1L	CORIN	TTC26	HFE	ELN	PIGM	NOTCH1	INPP5E	SRSF2	SLC30A10	FLT1	IRF5	SPIB	KRIT1	GNB2	DOCK6	STN1	GLIS3	IL12A	DCDC2	MPL	MPI	ITCH	RBPJ	F5	ADA2	HLA-DRB1	SHPK	TREX1	ASXL1	NPHP3	KIF12	POU2AF1	RNU7-1	GIMAP5	SP110
HP_APLASIA_HYPOPLASIA_OF_THE_NIPPLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_NIPPLES	IKBKG	KDM6B	RTL1	SLC25A24	TBX3	PIGG	TWIST2	TP63	CCDC22	GNE	HDAC8	EDA	RAD21	PIGL	EFNB1	CPLX1	NIPBL	RSPO2	CCDC47	FIG4	WASHC5	KCTD1	WNT7A	MEGF8	NELFA	EDARADD	KIF15	VAC14	BRD4	LETM1	TUBB	SETBP1	MGAT2	DLK1	CHRNG	PTPRF	UBR1	MEG3	ANTXR1	NSD2	PORCN	ALG9	CTBP1	CDH11	USP9X	PIGN	WNT3	SMC1A	SMC3
HP_APLASIA_HYPOPLASIA_OF_THE_CLAVICLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_CLAVICLES	TRIP11	CHD4	RSPO2	ORC1	TBX3	MSX2	BMPR1A	RUNX2	DCHS1	FBXL3	ORC4	CDC6	B4GALT7	LMNA	EFNB1	SALL4	MTX2	FIG4	GMNN	DYNC2LI1	PTDSS1	XYLT1	ATP7A	KIAA0586	ZMPSTE24	WNT7A	PTH1R	VAC14	FGFR2	BGN	ALX4	PIGL	TWIST1	PTEN	SRCAP	NAA10	TBX5	LEMD2	HOXD13	PORCN	CDT1	BCOR	NSDHL	IDUA	FAT4	CDC45	FLNA	RNU4ATAC	ORC6
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	RSPO2	ORC1	MSX2	SUFU	DYNC2I1	ORC4	CDC6	DDRGK1	SOX9	SOX2	ROR2	RIPK4	SALL4	GPC3	NKX3-2	FIG4	CEP120	TBC1D24	MYF5	HSPG2	XYLT1	TOR1A	COL11A2	GNPTAB	RUNX2	PSMB8	COL2A1	ZMPSTE24	TMEM231	VAC14	GPC4	BGN	INTU	RBM10	PRKCZ	ACTB	DYNC2H1	SIX6	TWIST1	PTEN	RRAS2	CEP152	UBE4B	FGFR2	HES7	DDR2	LMNA	SCUBE3	ALPL	TBX6	FRAS1	PTCH2	SLC26A2	CHST3	CHD4	TBX3	TBCK	PTPN11	VANGL1	GPX4	B4GALT7	KCNAB2	EFNB1	WDR35	TBX15	IHH	MTX2	BMP2	FBN1	B3GALT6	WASHC5	KIAA0586	WNT7A	FGFR3	MMP23B	IFT43	PTH1R	NIPBL	CUL7	PDPN	IFT81	IFT140	POR	ALG12	HDAC6	GSC	PRDM16	NAA10	CSPP1	ARID1B	PORCN	RNU4ATAC	BCOR	COL11A1	NSDHL	FAT4	WNT3	TRPV6	SNRPB	CDC45	FLNA	ATP7A	ATP6V1B2	TRIP11	RTL1	DCHS1	FBXL3	SLC35D1	SPEN	RERE	NFIX	C2CD3	GMNN	DYNC2LI1	DYM	KMT2A	INPPL1	DYNC2I2	B3GAT3	BUB1B	PAM16	PIGL	PLCB3	ATR	SRCAP	MEG3	RPS19	PUF60	DNMT3A	SMO	CASZ1	EVC2	ERMARD	LBR	IDUA	BMPER	NFASC	FLNB	EVC	IFT122	BMPR1A	FLI1	CCDC22	PCGF2	TAPT1	PTCH1	LMX1B	LUZP1	FGFR1	PTDSS1	NOG	FUZ	EZH2	ALX4	SKI	SETBP1	SF3B4	DLK1	GABRD	TBX5	IFT80	UBA1	LEMD2	TRPV4	ORC6	NEK1	HOXD13	TTC21B	PCNT	IFT172	CDT1	CENPJ
HP_APLASIA_HYPOPLASIA_OF_THE_RIBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_RIBS	TRIP11	RTL1	SUFU	DYNC2I1	RUNX2	HSPG2	SLC35D1	DDRGK1	SOX9	SPEN	SOX2	RERE	ROR2	GPC3	RSPO2	NKX3-2	KIAA0586	CEP120	C2CD3	TBC1D24	MYF5	DYNC2LI1	TBX6	FGFR3	KMT2A	INPPL1	TOR1A	DYNC2I2	COL11A2	COL2A1	B3GAT3	VAC14	GPC4	INTU	SLC26A2	PAM16	PRKCZ	FLNA	DYNC2H1	PLCB3	ATR	SIX6	SRCAP	RRAS2	CEP152	MEG3	UBE4B	HES7	RPS19	PTH1R	PUF60	DDR2	DNMT3A	SMO	SCUBE3	CASZ1	ALPL	EVC2	ERMARD	LBR	PTCH2	BMPER	NFASC	CHST3	FLNB	EVC	IFT122	ORC1	TBCK	FLI1	COL11A1	PTPN11	VANGL1	GPX4	CCDC22	KCNAB2	WDR35	IHH	TAPT1	PTCH1	BMP2	FBN1	LMX1B	B3GALT6	WASHC5	LUZP1	MMP23B	IFT43	FUZ	CUL7	EZH2	PDPN	IFT81	IFT140	SKI	ALG12	SETBP1	SF3B4	HDAC6	DLK1	PRDM16	GABRD	CSPP1	IFT80	UBA1	TRPV4	ORC6	NEK1	PORCN	TTC21B	RNU4ATAC	IFT172	GNPTAB	CENPJ	NSDHL	WNT3	TRPV6	SNRPB	FIG4	ATP6V1B2
HP_APLASIA_HYPOPLASIA_OF_THE_SCAPULAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_SCAPULAE	TRIP11	RTL1	RSPO2	TBX3	DYM	RUNX2	COL11A1	POR	SLC35D1	ACTB	SOX9	GSC	DLK1	RIPK4	TBX15	MEG3	COL2A1	FIG4	FGFR1	PCNT	FGFR3	WDR35	NSDHL	INPPL1	COL11A2	GNPTAB	PSMB8	FLNA	VAC14
HP_APLASIA_HYPOPLASIA_OF_THE_STERNUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_STERNUM	BUB1B	FIG4	GPC4	ORC1	RBM10	PCGF2	SETBP1	NOG	SOX9	FRAS1	GPC3	ARID1B	TMEM231	NFIX	ORC6	VAC14	NIPBL
HP_HEREDITARY_NONPOLYPOSIS_COLORECTAL_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEREDITARY_NONPOLYPOSIS_COLORECTAL_CARCINOMA	BUB1B	AKT1	NRAS	PIK3CA	MLH3	TP53	DLC1	BUB1	CTNNB1	TLR2	EPCAM	PTPN12	MCC	APC	SRC	AXIN2	BAX	PLA2G2A	DCC	PMS2	TGFBR2	FLCN	FGFR3	BRAF	RAD54B	MSH6	CHEK2	EP300	CCND1	PDGFRL	AURKA	PTPRJ
HP_ACUTE_LYMPHOBLASTIC_LEUKEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_LYMPHOBLASTIC_LEUKEMIA	APC2	TRIP13	GNB1	TAL1	BCR	NUP214	GFI1	NSUN2	PIGL	SETD2	CHEK2	HAX1	BUB1B	BLM	MDM2	BUB3	BRCA2	MSH2	TAL2	CEP57	BUB1	ELANE	IKZF1	SRP54	NSD1	TCIRG1	CDKN2A	LIG4	ABL1	TP53	NBN	BAX	FLT3
HP_INTESTINAL_CARCINOID	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTESTINAL_CARCINOID	CDKN2B	CDKN1B	SDHD	CDKN2C	CDKN1A	MEN1
HP_PANCREATIC_ADENOCARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATIC_ADENOCARCINOMA	PALB2	KRAS	CDC73	PMS1	PALLD	STK11	RABL3	EPCAM	RNF43	CDKN2A	MSH6	PMS2	CTRC	RPS20	SMAD4	MLH1	BRCA1	MLH3	BRCA2	SPINK1	NTHL1	TGFBR2	PIK3CA	BMPR1A	AAGAB	SEMA4A	FAN1	TP53	MSH2	COL14A1
HP_FOLLICULAR_THYROID_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOLLICULAR_THYROID_CARCINOMA	PTEN	FOXE1	SDHB	SEC23B	SDHD	PIK3CA	AKT1	NRAS	KLLN	SRGAP1	MINPP1	HABP2	PRKAR1A	HRAS	USF3	SDHC
HP_SQUAMOUS_CELL_CARCINOMA_OF_THE_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SQUAMOUS_CELL_CARCINOMA_OF_THE_SKIN	ERCC3	TERC	MC1R	KRT14	TYR	ERCC2	KRT5	TERT	XPC	LMNA	ERCC4	OCA2	DDB2	SMARCAD1	TMC8	IL7	TINF2	ERCC5	RSPO1
HP_ADRENOCORTICAL_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADRENOCORTICAL_CARCINOMA	TP53	MDM2	CDKN2C	KCNQ1OT1	IGF2	CDKN2B	APC	CDKN1B	CHEK2	KCNQ1	CDKN1A	CDKN1C	MEN1	CDKN2A
HP_GANGLIONEUROBLASTOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GANGLIONEUROBLASTOMA	GDNF	PHOX2B	MYO1H	KIF1B	BDNF	EDN3
HP_NEOPLASM_OF_THE_STOMACH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_STOMACH	CASP10	BUB1B	NRAS	MLH1	PIK3CA	SUFU	STK11	IL1RN	CTNNB1	TLR2	APC	MSH2	PTPN12	RPS20	AXIN2	PTCH1	BAX	CDK4	PDGFRA	BCL10	BMPR1A	BRAF	RAD54B	SEMA4A	BUB1	IL1B	MGMT	KIT	CHEK2	KRAS	CDKN2A	TP53	SMAD4	SDHC	COL14A1	PTPRJ	FGFR2	SDHA	CDKN2B	AKT1	TRIP13	POT1	MLH3	DLC1	TREX1	BAP1	SDHB	MSH6	MITF	MCC	ENG	MUTYH	MSH3	PRKAR1A	ERBB2	SRC	CDH1	PLA2G2A	DCC	TERF2IP	BLM	MDM2	BUB3	ACD	FLCN	FGFR3	AAGAB	CEP57	MC1R	TERT	PTCH2	EP300	IRF1	CCND1	KLF6	PDGFRL	AURKA
HP_MALIGNANT_GENITOURINARY_TRACT_TUMOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALIGNANT_GENITOURINARY_TRACT_TUMOR	RPL31	MLH1	RPL15	RPS28	RPS24	MSH2	MSH6	GATA1	RPS15A	RPL35	RPS29	RPS20	TSR2	ADA2	RPL11	RPL5	BLM	RPS19	RPL27	RPL26	RPS27	RPL35A	RPS10	RPL18	RPS17	RPS7	RPS26
HP_CHONDROSARCOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHONDROSARCOMA	PTH1R	NR4A3	EXT1	IDH1	EXT2	TAF15	IDH2
HP_PAPILLARY_RENAL_CELL_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAPILLARY_RENAL_CELL_CARCINOMA	FOXE1	MINPP1	LMNA	HABP2	CDC73	FH	MET	PRCC
HP_PITUITARY_PROLACTIN_CELL_ADENOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PITUITARY_PROLACTIN_CELL_ADENOMA	MEN1	CDKN2C	CDKN1B	YY1	CDKN2B	AIP	CDKN1A	GPR101
HP_DUODENAL_ADENOCARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUODENAL_ADENOCARCINOMA	APC	MLH1	BMPR1A	MSH2	NTHL1	SMAD4	GREM1
HP_RENAL_ANGIOMYOLIPOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_ANGIOMYOLIPOMA	TSC2	TSC1	MVK	CDKN1B	IFNG
HP_OVARIAN_PAPILLARY_ADENOCARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVARIAN_PAPILLARY_ADENOCARCINOMA	CDH1	PRKN	ERBB2	CTNNB1	AKT1	OPCML	PIK3CA
HP_MULTIPLE_MYELOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_MYELOMA	CCND1	SRSF2	GBA	LIG4	ASXL1	TET2	KIT
HP_ALVEOLAR_RHABDOMYOSARCOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALVEOLAR_RHABDOMYOSARCOMA	DICER1	PAX3	KEAP1	FOXO1	PAX7
HP_PARATHYROID_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARATHYROID_CARCINOMA	CDKN2B	CDC73	CDKN1B	CDKN2C	CDKN1A	MEN1	GCM2
HP_POSTERIOR_PHARYNGEAL_CLEFT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_PHARYNGEAL_CLEFT	PRKCD	TNFSF12	CD81	MS4A1	CR2	TNFRSF13B	NFKB1	MID1	CD19	ICOS	TNFRSF13C	NFKB2
HP_LIMB_GIRDLE_MUSCULAR_DYSTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_GIRDLE_MUSCULAR_DYSTROPHY	DPM3	TRAPPC11	SYNE2	FHL1	ANO5	LMNA	TMEM43	POMT2	EMD	HNRNPA1	DAG1	ACTA1	HNRNPDL	SGCA	SYNE1	CRPPA
HP_BASAL_GANGLIA_CYSTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BASAL_GANGLIA_CYSTS	CPT2	PDHA1	LONP1	GFM1	MT-ATP6	ADAR	NUP62
HP_HYPERACTIVE_DEEP_TENDON_REFLEXES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERACTIVE_DEEP_TENDON_REFLEXES	CNNM2	MECP2	GJA1	MAB21L1	ATXN1	DNM1L	SLC2A1	STUB1	MRE11	PRSS12	GALC	ATXN2	SDHAF1	EGF	SMG9	SAMD9L	PRPS1	KCNC3	ATP6AP2	PRNP	SDHD	TIMM8A	SDHB	PMP22	UROC1	SDHA	C19orf12	PRRT2	BEAN1	TANGO2	OFD1
HP_ABNORMAL_ANTERIOR_HORN_CELL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ANTERIOR_HORN_CELL_MORPHOLOGY	CPLANE1	SMN1	TFG	CEP126	ASAH1	IGHMBP2	NEFH	UBA1	SETX	SOD1	PRPH	DCTN1	VRK1	ATXN3	SMN2	GLE1
HP_CEREBRAL_HYPOMYELINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_HYPOMYELINATION	EIF2B1	EIF2B4	SOX10	FAM126A	PLP1	STXBP1	PIGO	SLC1A4	PGAP2	SPATA5	PIGY	BCAP31	TBCD	CYB5R3	RARS1	PIGV	EIF2B3	PIGL	VPS11	CYB5A	SLC25A12	ALG2	POLR3B	PIGW	ADSL	EIF2B5	GJC2	WDR26	EIF2B2	TUBB4A	PGAP3	PHGDH
HP_FOCAL_HEMICLONIC_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_HEMICLONIC_SEIZURE	SCN1A	SLC12A5	KANSL1	SCN1B	GABRG2	SCN2A	SCN9A	FRRS1L	SMARCAL1	PCDH19	GABRA1	GRIN2A
HP_APLASIA_HYPOPLASIA_OF_THE_CEREBELLAR_VERMIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_CEREBELLAR_VERMIS	RERE	SACS	LAMA1	WDR81	ACY1	FKRP	FKTN	OFD1	TMEM67	CPLANE1	RPE65	TMEM237	ALX4	CEP120	VPS35L	B3GALNT2	SEMA6B	MKS1	TMEM216	TBCK	ARID2	CDKN1C	GPC3	KRAS	IFT140	INPP5E	CDC42	SRPX2	FIG4	MPL	CEP290	TBC1D24	EBP	KCNQ1OT1	CEP41	C2CD3	DAG1	IGF2	TCTN2	RAB11B	PCYT1A	FAM149B1	CC2D2A	TFAP2A	TMEM231	RXYLT1	AHI1	SYT2	GPC4	LAMB1	MAB21L1	VPS51	THG1L	PIBF1	DCHS1	CENPF	RAPSN	B9D1	CSPP1	CCDC32	RDH12	EBF3	SMARCA4	TCTN1	SEMA3E	IMPDH1	ARMC9	LARGE1	FRMD4A	TOGARAM1	CPT2	NSD1	RAB3GAP1	MID1	PHGDH	SLC25A24	POMT1	AIPL1	RAC1	PSAT1	FOXC1	PACS1	GUCY2D	SOX4	NRAS	SMARCB1	FGFR1	FAR1	SETD2	SMARCC2	CRPPA	NUP37	TSEN34	BUB1B	ATP6V1A	ZEB2	COG1	ALG3	WDR73	HYLS1	TSEN15	SMG9	WASHC5	TBC1D20	KIAA0586	ARID1A	SEPSECS	FDXR	TUBB3	COL4A1	KIAA0753	POLR3A	RPGRIP1L	DYNC2I1	POMGNT2	TOPORS	SOX11	PLG	NPHP1	GJB2	LRAT	SMARCE1	ARID1B	CHD7	RPGRIP1	RAB3GAP2	RAB18	TSEN54	PIGN	BUB3	RNU4ATAC	POMT2	KATNIP	DHCR7	RBM10	CWF19L1	BRF1	CEP57	NPHP3	LCA5	FTO	ATP6V1B2	EXOC2	HRAS	B9D2	APC2	SPATA7	AFF3	ZIC1	MVK	ASXL1	ADGRG1	FAT4	HHAT	MRE11	USP45	THOC2	GDF6	SPECC1L	OPHN1	TRRAP	VPS4A	DPH1	ZNF423	USP9X	PTEN	TSEN2	NCAPG2	L1CAM	ATP6V0A2	DPF2	DYNC2I2	GMPPB	RD3	CBY1	GRM1	CRX	TMEM138	DOK7	CEP104	TUBB	SRD5A3	PAFAH1B1	ATP2B3	TMCO1	RNF113A	BMP4	CCDC22	KIF7	ATR	SMARCD1	TULP1	TCTN3	POMGNT1	MEF2C	B4GALT1	ARL3	GOT2	EXOSC8	EVC2	PI4KA	SLC18A3	TXNDC15	PMM2	POMK	PIEZO2	EVC	FLVCR2	PCGF2	SLC25A19	TUBA1A	PDE6D	NMNAT1	KCNJ13	WARS2	PPP1CB	DENND5A	GLI3	SUFU	ATP6V1E1	CRB1	CEP164	NUP88	TMEM107	B4GAT1	BUB1	ASXL3	SLC35A2	ATN1	INTS1	KCNQ1	PIGU	ARL13B	LRRC32	TRIP13	PGAP1	AP1S2	IQCB1	MUSK	DPYSL5	EPG5	GRIA3	TAF1	IFT80	NEK1	PPP1R21	DYNC2H1	MDH1	ITPR1	PRKDC	IFT172	TMEM218	GJB6	MYOD1	BCOR	WDR35
HP_SEVERE_MUSCULAR_HYPOTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_MUSCULAR_HYPOTONIA	PEX1	LMOD3	FKTN	CACNA1I	ABAT	PURA	CCDC174	TBCK	PRICKLE2	CCDC88A	SNRPN	PEX11B	KLHL41	NDUFS6	CDH15	LMNA	KIF1A	PIGG	PEX3	GPT2	POMT2	PNPT1	ZNHIT3	CAMK2A	SPTBN4	HIVEP2	PEX10	PEX13	POMT1	MPZ	SPEG	PEX5	PPP3CA	PEX26	GCDH	NEB	MPLKIP	TRIP4	BMP4	GRIN2B	SET	EEF1A2	ERBB4	MYT1L	FKRP	ACTA1	CACNG2	FKBP14	BICD2	STRADA	DYNC1H1	B3GALNT2	SLC25A12	VAMP1	GCH1	MYL1	MTM1	DOLK	DPM2	DMXL2	KDM5B	SETD1B	PEX14	CARS2	TPM3	CAMK2B	MED12L	POMGNT1	UBA1	ASCC1	GRIN1	KCNQ5	MBD5	ZMYND11	CIC	AIFM1	SLC25A1	SLC39A8	TRPM3	PEX2	DLL1	PEX6	ASH1L	NBEA	IBA57	PEX19	CUX1	KIRREL3	CLTC	DOCK8	RAB11A	MYMK	ITPA	TCF4	B4GAT1	CHAMP1	RMND1	CSNK2B	PEX12	KLHL40	DEAF1	LARGE1	EPB41L1	BRSK2	SYNGAP1	ALG14	PIGN	TAOK1	PEX16	MFF	TBC1D24
HP_ACUTE_ENCEPHALOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_ENCEPHALOPATHY	COG8	ACY1	PCCA	RANBP2	SQOR	NDUFS4	SLC25A15	SLC22A5	PCCB
HP_HYPOPLASIA_OF_THE_VENTRAL_PONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_VENTRAL_PONS	TSEN15	TSEN54	TSEN34	VRK1	TSEN2	SEPSECS
HP_CEREBELLAR_VERMIS_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBELLAR_VERMIS_ATROPHY	GRID2	ITPR1	SACS	TDP1	TUBB	STXBP1	KIF1A	PMPCA	CACNA1A	DLG4	VPS41	MME	FAR1	ATXN8OS	SCYL1	XRCC4	TMEM240	FA2H	PIK3R5	LMX1B	DAB1	CACNA2D2	TRPC3	SETX	CHP1	PRKCG	CACNA1G	RNU12	CUL4B	PIGS	COX20	PUM1	HTT	CNTNAP2	PEX16	GJB1	QARS1
HP_IMPAIRED_DISTAL_PROPRIOCEPTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_DISTAL_PROPRIOCEPTION	TWNK	DARS2	GDAP1	POLG	MTTP	TDP1	POLR3A	SPTLC1	CYP7B1
HP_SEVERE_EXPRESSIVE_LANGUAGE_DELAY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_EXPRESSIVE_LANGUAGE_DELAY	POGZ	EHMT1	KMT2C	SH2B1	HERC1	SPATA5	RSPRY1	TAF1	GRIA3	ARID1B	ASXL1	DPYD
HP_LOBAR_HOLOPROSENCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOBAR_HOLOPROSENCEPHALY	B9D2	FGFR1	ZIC2	TMEM107	CC2D2A	RAD21	TCTN2	B9D1	CSPP1	RTTN	CEP290	TXNDC15	TMEM237	RPGRIP1	TCTN1	TMEM67	TMEM216	TMEM231	RPGRIP1L	TCTN3	MKS1
HP_CEREBRAL_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_HYPOPLASIA	BUB1B	CEP63	HSD17B4	CEP135	COASY	PHC1	GCDH	FH	PYCR2	CEP152	RTTN	TRAPPC14	WDR62	MYSM1	METTL5	BRAF	KIF14	CDK5RAP2	DPM1	CSPP1	ASPM	WDR45B	KNL1	SASS6	KIAA0586	MKS1	FIG4	STIL	CENPJ	RNU4ATAC	CDK6	CIT	ANKLE2	DHCR7	C2CD3	MFSD2A	FDXR	NCAPD3	HHAT	COPB2	SLC35C1	ARHGEF9	MCPH1	TAF13	VAC14	PHGDH
HP_PONTOCEREBELLAR_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PONTOCEREBELLAR_ATROPHY	LAMA2	RORA	CCDC88C	DPM1	FA2H	VPS4A	SETX
HP_IMPAIRED_DISTAL_VIBRATION_SENSATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_DISTAL_VIBRATION_SENSATION	CACNA1G	POLG	CHCHD10	DHH	LMNB1	PDYN	CADM3	SETX	REEP2	GCH1	ABCD1	DCAF8	KCND3	TWNK	FMR1	KCNC3	ALDH18A1	LRSAM1	PRKCG	B4GALNT1	GBA2	VCP	SPAST	JAG1	SH3TC2	KIF5A	GDAP1
HP_INTELLECTUAL_DISABILITY_PROGRESSIVE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTELLECTUAL_DISABILITY_PROGRESSIVE	CC2D1A	WDR81	DMPK	XPA	HCCS	MGAT2	SLC16A2	COX7B	SNAP29	KAT6B	SUCLA2	DDB2	SLC35C1	L2HGDH	ERCC3	RAB3GAP2	NDP	KCNH1	PEX1	UBE3A	TONSL	AIFM1	TCF4	AP4M1	ARHGEF9	PTS	MTRR	OFD1	MECP2	UROC1	TK2	KDM5C	NDE1	CTSD	ACOX1	ATRX	ERCC5	B3GLCT	NDUFB11	ERCC4	ERCC2	ARX	TSHB	SRD5A3	AHSG	GCH1	SNRPN	XPC	SLC9A6	NKX2-5
HP_MENINGOENCEPHALOCELE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MENINGOENCEPHALOCELE	POMT1	FKTN	POMT2	FKRP	LARGE1
HP_INTELLECTUAL_DISABILITY_BORDERLINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTELLECTUAL_DISABILITY_BORDERLINE	TRAPPC11	MAGEL2	NDN	OCA2	CLDN11	TONSL	SNRPN	IFT172	AASS	NRAS	KCNMA1	ENTPD1	GABRG2	TBC1D24	SRPX2	GRIN2A	TRIO	YY1AP1	CPLX1
HP_THICK_CEREBRAL_CORTEX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICK_CEREBRAL_CORTEX	ATP6V1E1	TBC1D24	ATP6V0A2	APC2	PAFAH1B1	RELN	TUBG1	ATP6V1A	NIPA1	NIPA2	CPLX1
HP_FRONTOTEMPORAL_CEREBRAL_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRONTOTEMPORAL_CEREBRAL_ATROPHY	TTC26	SPG21	COG4	C9orf72	PRKAR1B	TREM2	HSD17B10	PSEN1	TMEM106B	PLA2G6	GABRA5	GRN	MAPT	SQSTM1	CHMP2B	VCP
HP_LOWER_LIMB_HYPERTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_LIMB_HYPERTONIA	SLC33A1	KDM5C	ASXL1	ATRX	CLDN11	MTRR	VPS37A	ATL1	TSEN54	SDHAF1	TSEN34	FA2H	ALDH18A1	KIDINS220	PNPT1	RARS1	SPG7	TSEN15	SDHD	TSEN2	SEPSECS	KAT6A	MTPAP	SDHB	LBR	SDHA	KDM1A	FAR1	SLC35C1	RNU7-1
HP_ABDUCENS_PALSY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABDUCENS_PALSY	CCDC174	CDH23	AIP	TRPV4	PSAP	MEN1	TMEM67	WDR26
HP_FUSION_OF_THE_CEREBELLAR_HEMISPHERES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FUSION_OF_THE_CEREBELLAR_HEMISPHERES	POMGNT1	POMK	GMPPB	FKRP	POMT1	POMT2
HP_FRONTAL_CORTICAL_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRONTAL_CORTICAL_ATROPHY	PUS7	PTPN23	TRIP12	VPS13A	NTNG2	SRCAP	ZMIZ1	SVBP	DDX6	POMT2	SYNCRIP	TRMT1	BCAS3	VCP	MADD	MAPK8IP3	SATB1	OPHN1	KDM4B	KCNMA1	CYB5R3	PALS1	AGO2	SLC12A2	PSMD12	MED13	DOCK3	SPG11	FBXW11	WDFY3	RNF2	WASF1	MED27	ACTL6A	CLCN3	HTT	UBR7	KMT2E	BPTF	NTNG1	TCF20	SPTBN1	GRIA4	SCYL2	CNOT3	HPDL	HUWE1	BCORL1	RLIM	MEF2C	ACTL6B	TNRC6B	KAT8	SETD1A	CYB5A	MYT1L	TRAPPC4	EMC10	LMBRD2	CCDC32	DPYSL5	JARID2	HS2ST1	TCF7L2	TANC2	ANKRD17	PARS2
HP_ABNORMAL_AGGRESSIVE_IMPULSIVE_OR_VIOLENT_BEHAVIOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_AGGRESSIVE_IMPULSIVE_OR_VIOLENT_BEHAVIOR	PRODH	UNC80	MYT1L	TREM2	RPL10	ECM1	CACNA1I	RTTN	NDN	SMG8	MGAT2	FRMPD4	CDH15	SNRPN	SCN2A	ENTPD1	ABCA2	LARP7	CHMP2B	WDR45	PTCHD1	CLCN2	SUCLG1	TRIP12	CDH2	TRIO	SATB2	SYN1	MAB21L1	ODC1	GRIK2	MAN1B1	TUBG1	HTT	CILK1	ERBB4	SMARCA4	MAPT	HPRT1	FTSJ1	PACS1	NSDHL	CACNG2	ATP13A2	CHD7	EIF2S3	ATG7	MADD	NTRK1	CNTNAP2	PAH	GNAO1	RNU7-1	SEMA3E	EHMT1	KDM5C	WAC	TIMM50	TSC1	NALCN	NAGLU	CAMK2B	PUS3	SMARCB1	IQSEC1	ABCA12	SLC1A4	GLS	GRIN1	ZMYND11	SHANK3	KMT2C	TRPM3	CLCN3	DLL1	NDP	ASH1L	ATP1A3	ARID1A	SPTBN1	TCF4	PLA2G6	CACNA1A	TCF20	RAI1	MKRN3	NIPBL	CHAMP1	EBP	TBX1	SOX11	UQCC2	DEAF1	MAGEL2	MED12	NDE1	KCNA1	SOX5	MED25	AMT	GABRD	PRDM16	ARID1B	POGZ	RERE	PCDH19	SYT1	SARS1	IQSEC2	HDC	NPAP1	DHCR7	CREBBP	BCOR	TMCO1	FIG4	ESS2	PDE2A	DCDC2	OCA2	CAMTA1	GCSH	SLC6A4	SPEN	DYNC1I2	PIGF	ADAT3	CHD2	TMEM231	EEF1A2	AUH	SLC2A1	PRICKLE2	AP1G1	CAMK2A	TKT	SLC52A2	STEEP1	PPP3CA	SLC25A13	GAMT	RORB	SMARCC2	SET	RUSC2	SMARCD1	SPATA5	SLC6A17	NTNG2	TSC2	JRK	DGCR2	RBBP8	SIK1	DYNC1H1	NONO	DNM1	ANK3	FGF14	GABRA1	GRM7	NDST1	NFASC	KDM5B	PHIP	PNKP	DMXL2	SLC2A3	VPS13A	DNMT3A	SETD1B	FLII	HNRNPH2	SMARCA2	PIGL	CASK	CLTCL1	EFHC1	SPOP	SCN1B	ATRX	GRIN2A	KIF11	GRIA2	EP300	PSEN1	CUX2	CLTC	RAB11A	LINS1	TFE3	SLC1A3	SNORD115-1	CSNK2B	MECP2	TMEM222	KDM3B	PSMD12	RLIM	UBE2A	ATP1A1	PUS7	KNL1	CLCN4	SH2B1	AFF2	KMT2A	AGO2	SNORD116-1	RPS6KA3	WASF1	PRRT2	GJB2	NAT8L	NBEA	SVBP	SPAST	PYCR2	OCRL	GATAD2B	MBD5	KAT5	PRNP	TMEM67	KDM4B	ARID2	NEUROD2	TTI2	CEP85L	INPP5E	GRN	KCNQ3	ALG14	AP1S2	HERC2	KIF1A	FBXW11	TYROBP	DGCR6	TBP	NFIB	NIPA1	ZMIZ1	UROC1	C9orf72	PRKCZ	DCHS1	DDX3X	WARS2	CDKL5	UBE4B	HDAC4	CYP27A1	GRIA3	NEXMIF	USP7	CUL4B	ELP2	GABRB3	DPAGT1	FOXP1	UBTF	NSD1	C12orf4	CTNNB1	LINGO1	SCN11A	KIF5C	USP9X	SOX4	UBE4A	METTL5	MED12L	KCNAB2	SETD2	PIGQ	CIC	SLC6A8	CUX1	KIRREL3	MMP23B	ARX	KIF15	PDPN	SMARCE1	LEPR	EPB41L1	NAA10	TMEM240	SQSTM1	MAPK1	ALDH4A1	VAMP2	TTC19	PWAR1	GLDC	SASS6	SPR	CACNB4	APC2	TRIM8	ADNP	HSPG2	KMT2E	FAT4	DYRK1A	DPYD	SCN1A	NAGS	VPS16	BPTF	FMR1	HSD17B10	PPP2R5D	HIVEP2	DPF2	CLN5	HECW2	ZBTB20	SIM1	NIPA2	PIGY	GRIN2B	SRCAP	KCNT1	IMPA1	OPHN1	CASZ1	KPTN	PANK2	SIN3A	HTRA1	CEP152	MAOA	FRRS1L	PIGH	MED13L	ATP1A2	TMEM106B	ATP7B	KCNQ5	BCAP31	TAOK1	NKAP	HEPHL1	LUZP1	VCP	SETD1A	PWRN1	ASXL3	DOCK8	ADSL	FMO3	SHMT2	TREX1	SKI	THOC2	ALDH5A1	BRSK2	DPYSL5	WDR62	SYNGAP1	PAK3	DGCR8	MAPK10	PIGP	SLC25A22	ATXN10	NFIX	SLITRK1	GABBR2	HTR2A	MANBA
HP_CONGENITAL_NYSTAGMUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_NYSTAGMUS	PUS7	CNGB3	PTPN23	TRIP12	NTNG2	SRCAP	ZMIZ1	SVBP	DDX6	SYNCRIP	BLOC1S6	TRMT1	BCAS3	LRP5	MADD	MAPK8IP3	SATB1	KDM4B	KCNMA1	PALS1	AGO2	TBC1D24	SLC12A2	PSMD12	MED13	PAX6	DOCK3	KRT5	FBXW11	WDFY3	RNF2	WASF1	MED27	ACTL6A	CLCN3	HTT	UBR7	KMT2E	BPTF	NTNG1	TCF20	NUP62	PGAP1	SPTBN1	GRIK2	GRIA4	CNOT3	HPDL	HMX1	HUWE1	FRMD7	MT-ATP6	ADAR	BCORL1	TULP1	RLIM	ACTL6B	TNRC6B	KAT8	SETD1A	KRT14	MYT1L	TRAPPC4	EMC10	LMBRD2	CCDC32	DPYSL5	JARID2	HS2ST1	TCF7L2	TANC2	ATP6V1B2	ANKRD17
HP_IMPAIRED_DISTAL_TACTILE_SENSATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_DISTAL_TACTILE_SENSATION	SPTLC1	SPTLC2	DHH	KLHL9	ATL1	MPV17	SETX	ATL3	ATXN1	DCAF8	GDAP1	HARS1
HP_IMPAIRED_VIBRATION_SENSATION_AT_ANKLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_VIBRATION_SENSATION_AT_ANKLES	GBA2	REEP2	CACNA1G	SPAST	ABCD1	ALDH18A1	PRKCG	B4GALNT1	KCND3
HP_RETROCEREBELLAR_CYST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETROCEREBELLAR_CYST	ZSWIM6	DOCK6	GRM1	AHDC1	GRIA3	OPHN1	SNX14
HP_OLIVOPONTOCEREBELLAR_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OLIVOPONTOCEREBELLAR_HYPOPLASIA	PPP2R1A	POMK	TOE1	FKRP	TSEN54	POMT2	RTTN	POMGNT1	GMPPB	ATXN2	POMT1	PMM2	MINPP1
HP_DILATION_OF_LATERAL_VENTRICLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DILATION_OF_LATERAL_VENTRICLES	GRIN1	RAC1	YIPF5	VPS13A	SLC35A2	SETD1B	PTPN23	ZIC1	CACNA1I	CAMK2B	PUS3	CCDC174	MED12L	PRICKLE2	SNRPN	KCNQ5	MBD5	WARS2	GFM2	ZMYND11	TUBB2B	CIC	GLUL	KIDINS220	ZEB2	CDH15	TAOK1	KIAA0586	GCDH	TRPM3	KIF1A	DLL1	FBXW11	ZIC2	ASH1L	NBEA	CUX1	KIRREL3	SPG11	COG5	CLTC	CAMK2A	PPP2R5D	TUBB3	HIVEP2	ASXL3	DOCK8	PDHA1	RAB11A	RAB3GAP1	TCF4	CLCN3	D2HGDH	CHAMP1	TTC26	EZH2	PPP3CA	CSNK2B	DEAF1	ODC1	MED25	VPS51	PSAT1	SATB1	EPB41L1	HS6ST2	GRIN2B	BRSK2	SET	GRN	NDUFB11	EEF1A2	CSPP1	ERBB4	SYNGAP1	MYT1L	NEK1	SON	CACNG2	LONP1	ATP6AP2	DCX	KIAA0753	DYNC1H1	ALG2	NFIX	KLHL15	RNU7-1	KDM5B	TNFRSF11A
HP_LOSS_OF_ABILITY_TO_WALK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOSS_OF_ABILITY_TO_WALK	POMT2	CRAT	DYSF	FKRP	KLHL9	RNASEH1	HSD17B10	JAG2	SMC1A	REPS1	ADAR	GIPC1	PLEC	TWNK	BVES	DES	SDHAF1	MAPT	FA2H	MT-ATP6	GFM2	LRP5	NTNG1	DNAJB6	ERBB4	VAC14	POMT1	SDHD	VPS16	GABBR2	FAM126A	CDKL5	AP4S1	SDHB	SDHA	RRM2B	LARGE1	GMPPB	NOTCH2NLC	MECP2	NEU1	NUP62
HP_ABNORMAL_AUDITORY_EVOKED_POTENTIALS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_AUDITORY_EVOKED_POTENTIALS	MYH3	OPA1	MOGS	EBP	GALC	LMNB1	SH3TC2	ERCC6	ERCC8	GJC2	CYP27A1	NEFL	DIAPH3	TIMM8A	ERCC4	MTMR2	OTOF	SPTBN4	NMNAT1	EDNRB	PSAP	SOX10	NDRG1
HP_JERKY_HEAD_MOVEMENTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JERKY_HEAD_MOVEMENTS	JRK	VAMP1	MAPT	DLAT	GABRG2	PRNP	SLC2A1	PIGT	GABRA1	CACNA1H	GABRB3
HP_PERIVENTRICULAR_LEUKOMALACIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIVENTRICULAR_LEUKOMALACIA	SPATA5L1	EOGT	PRR12	MPLKIP	MORC2	TRMT1	GTF2H5	NOTCH1	TARS1	ARHGAP31	TBCK	SON	DOCK6	HK1	NRROS	PUF60	DDHD2	RNF113A	PDHB	CLCN4	GTF2E2	LONP1	TET3	USP7	RBPJ	AARS2	ERCC2	NDUFC2	BRF1	EDEM3	PC	PDHA1	CNTNAP2	DLL4	ERCC3	ARID2
HP_GRAMMAR_SPECIFIC_SPEECH_DISORDER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GRAMMAR_SPECIFIC_SPEECH_DISORDER	TREM2	TMEM106B	FOXP2	MAPT	GRN	CHMP2B	PSEN1	VCP	GALT	C9orf72
HP_SLEEP_WAKE_CYCLE_DISTURBANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLEEP_WAKE_CYCLE_DISTURBANCE	DLL1	GLI2	CDKL5	PTCH1	CSNK1D	TDGF1	NODAL	GAS1	SHH	FOXH1	STIL	ZIC2	SIX3	SMC1A	TGIF1	STAG2	UBE3A	FGFR1	CDON	RAI1	KIF15	DISP1	ATP10A	FGF8	TELO2	APOE	PSEN2	GRIA3	TAF1	SNRPN	PER3	DHCR7	PER2
HP_PROGRESSIVE_LEUKOENCEPHALOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_LEUKOENCEPHALOPATHY	SDHA	PLAA	AARS2	KIF5A	COA8
HP_UPPER_LIMB_SPASTICITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_LIMB_SPASTICITY	ALS2	TBCD	CYP7B1	PIGA	SPG11	RARS2	GJC2	SPTLC1	SIGMAR1	SATB1	ZFYVE26	GBA2	ERLIN2	SELENOI	THOC2	KIF5A	FUS	WASHC5	SPART	ACTL6B	CLCN4
HP_DYSPLASTIC_CORPUS_CALLOSUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSPLASTIC_CORPUS_CALLOSUM	KAT5	KIAA0586	NONO	MCOLN1	GPSM2	ODC1	DCHS1	PIGH	PUS3	SIN3A	FAT4	TBCK	SON	EARS2	SIN3B	TSEN54	TSEN34	NT5C2	TSEN15	THOC6	LMNB1	TSEN2	SEPSECS	PPP1R12A	RTTN	PIK3C2A	HSPA9	SVBP	DDB1	C2orf69	TUBA8	AGTPBP1	ATAD3A
HP_BASAL_GANGLIA_GLIOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BASAL_GANGLIA_GLIOSIS	LONP1	SCO2	NDUFS2	PRNP	SURF1	NDUFAF3	NDUFB8	PDHA1	VRK1	MT-ATP6	ADAR	NUP62
HP_MORNING_MYOCLONIC_JERKS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MORNING_MYOCLONIC_JERKS	CACNB4	GABRD	CLCN2	EFHC1	CSTB	PRICKLE1	CILK1	SCARB2	GABRA1	KCNQ3	JRK
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	ATXN1	NOP56	TSEN54
HP_MOTOR_AXONAL_NEUROPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOTOR_AXONAL_NEUROPATHY	SPTLC1	OPA1	SPTLC2	MORC2	SPG7	AAAS	ATL1	HNRNPA2B1	LMNA	GMPPA	PLEKHG4	COASY	CTDP1	AIFM1	HMBS	HARS1	VWA1	TBCD	XK	KCNK9	VCP	TRAPPC11	WARS1	PEX10	PNPLA6	ATL3	C19orf12	WDR48	HINT1	KLC2	HNRNPA1	GAN
HP_POOR_FINE_MOTOR_COORDINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POOR_FINE_MOTOR_COORDINATION	RTL1	ADGRV1	MEG3	SLC2A3	SCN1B	GABRG2	PDHX	SCN1A	NTN1	DLK1	NDN	SBF2	RAI1	HERC2	PIEZO2	ZEB2	DARS2	FXN	SNRPN	FMR1	SCN2A	C19orf12	GNB5	RNU12	PCDH19	PWRN1	GABRA1	VCP	ALMS1	PPP2R2B	MMACHC	MKRN3	DNAL4	SNORD115-1	GDAP1	CXCR4	RDH11	SCN9A	STX1B	THG1L	SLC30A10	HTT	MFN2	DCC	GABRD	MTRFR	PRNP	HCN1	NPAP1	MAGEL2	SNORD116-1	RAD51	FOXP2	PWAR1
HP_POOR_GROSS_MOTOR_COORDINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POOR_GROSS_MOTOR_COORDINATION	POMT2	SNRPN	KCNQ2	POMT1	FKRP	DCX	NPAP1	PDHX	MAGEL2	SNORD116-1	PWRN1	NDN	FOXP2	PWAR1	LARGE1	GMPPB	HERC2	CLN5	MKRN3	SNORD115-1	GDAP1
HP_CORTICOSPINAL_TRACT_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORTICOSPINAL_TRACT_HYPOPLASIA	L1CAM	IQSEC2	DEAF1	FLII	RAI1	PDHB
HP_ATTENTION_DEFICIT_HYPERACTIVITY_DISORDER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATTENTION_DEFICIT_HYPERACTIVITY_DISORDER	RERE	NTNG2	COMT	ZMIZ1	TRMT1	CLCN4	NDN	DRD5	ABCD1	KANSL1	SHH	GTF2I	NCF1	HSPG2	TIMM8A	TGIF1	DOCK3	SCN3A	PIEZO2	PTCHD1	TSC2	YY1	CDH2	PHF21A	MED27	EIF4H	HDAC4	NTRK2	SZT2	PRNP	TRIO	AP2M1	ODC1	CHRNA2	GRIK2	TUBG1	RSRC1	CDON	FOXH1	FGF8	FGFR1	TSC1	ACTL6B	KCNT1	GALT	EMC10	MADD	CRKL	TRAPPC14	DPYSL5	YWHAG	PAH	TDGF1	SMC3	PLAG1	ARV1	PTPN23	SH3KBP1	TRIP12	WAC	JRK	IQSEC1	RPS20	MAPK8IP3	THRB	KCNMA1	ATP1A2	ARHGEF6	SETBP1	STIL	BCL7B	CACNA1A	KCNB1	NDP	PPM1D	SLC2A1	IQSEC2	SIX3	SPTBN1	FBXW11	WDFY3	SYNJ1	MKRN3	BPTF	MED12	TCF20	GABRB3	PTCH1	UBA5	LHCGR	SOX5	EPCAM	ZIC2	ZNF711	AUTS2	CHD7	IFNG	BCORL1	DISP1	RLIM	HDC	ZDHHC9	GRIN2A	METTL27	NPAP1	GABRB2	PPP1R12A	HOXA2	TMCO1	GRIN2D	CCDC32	USP9X	DYRK1A	STS	MAP1B	NEXMIF	MYT1L	SMC1A	DCDC2	ANKRD17	SPEN	FGD1	DYNC1I2	RAD21	ELN	MLH3	PANK2	SNRPN	TBX1	SLC1A2	SLC6A1	SLC12A2	EEF1A2	TGFBR2	RFC2	KCNA2	AARS1	TKT	UBR7	KMT2E	LIG4	MSH2	DLG3	STEEP1	KIF14	PRR12	KRAS	FKBP6	TNRC6B	BRD4	GRIA4	HMGA2	HPDL	FANCD2	CSGALNACT1	CABP4	FOXP1	RAI1	GAS1	POLA1	FRMPD4	MAGEL2	BUD23	ANAPC1	RAB39B	DNAJC30	NR2F1	TCF7L2	PCNT	NLGN1	PHIP	PUS7	TLK2	DLL1	FLI1	GALC	CYFIP2	FLII	GNE	NODAL	HNRNPH2	SYNCRIP	AGTR2	VPS37D	DEAF1	KIF11	SLC13A5	SATB2	TUBB2B	DNM1	GABRA5	AGO2	BMPR1A	SMARCA2	SCN1A	RNF2	FAN1	SNORD115-1	NTNG1	CNKSR2	PARS2	KDM3B	NECAP1	SETD5	CLTC	GLUD1	CNOT3	SCN8A	USP27X	TAF1	WBP11	KAT8	SETD1A	ZNF81	GP1BB	PAK3	SNORD116-1	MECP2	SRPX2	CDK8	NBEA	AP3B2	KAT5	MLXIPL	HDAC8	TMEM67	KDM4B	TSHB	MCTP2	GABRG2	ZNF41	PSMD12	MED13	NOP56	STAG2	CHD2	GDI1	LIMK1	FTSJ1	SPRED1	GNAQ	CLCN3	IGF2	NIPA1	SLC7A6OS	NUS1	GABRA2	MLH1	CYP27A1	SEMA3E	ARVCF	ALKBH8	TNPO2	SLC9A7	GLI2	UFD1	NAA15	SH2B1	ATP1A3	CDK19	DDB1	NSD1	CDKN1C	C12orf4	TANC2	ARID2	DDX6	UBE4A	METTL5	HIRA	CHRNA7	BCAS3	SETD2	SHOC2	DMD	CACNA1H	PALS1	TET3	SYNGAP1	HCN1	OCRL	SEMA4A	ACSL4	NBN	ACTL6A	SYP	GABRA1	NSUN2	TSPAN7	CACNA1B	PMS2	MAPK1	UPF3B	SEC24C	TBL2	PIK3CA	CRBN	PWAR1	RIC1	SPG7	HS2ST1	WWOX	APC2	SRCAP	ADNP	IL1RAPL1	DHCR7	FGFR3	ASPM	DHTKD1	SMPD1	SATB1	OPHN1	NIPBL	CELF2	TMEM270	USP7	GNB5	FMR1	SIM1	HTT	PPP3CA	CRH	PMS1	CIC	DNAJC12	MID2	STX1A	DRD4	ATP6V1A	NIPA2	BAZ1B	TRAK1	ADH5	ARX	DEPDC5	TBL1X	ALG13	LMBRD2	GATA4	SIN3A	CHRNA4	JMJD1C	BCR	GTF2IRD2	SVBP	PCGF2	NF1	MSH6	HERC2	DPH1	SLC6A8	FGF12	TAOK1	NKAP	UBE3A	MED12L	IKBKG	PWRN1	ZNF292	WASF1	RPS6KA3	FGF13	ZMYM2	CHRNB2	ARF1	CSNK2A1	SHMT2	CARS1	HUWE1	DHDDS	PPP1R21	RREB1	CLIP2	PRKCG	TRAPPC4	GTF2IRD1	IGF1	JARID2	HCFC1	DALRD3	SLITRK1
HP_PROGRESSIVE_SPASTIC_PARAPLEGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_SPASTIC_PARAPLEGIA	SLC33A1	ATP13A2	MARS1	SELENOI	NDUFAF6	NDUFV2	NDUFA13	IBA57	NDUFA4	WASHC5	AP4B1	NDUFS3	RTN2	NDUFS4	HACE1	AP4S1	FLRT1	SDHA	PET100	NDUFA9	NDUFS7	PDHA1	UBAP1	NDUFAF5	NDUFA10	KDM5C	PGAP1	PNPLA6	NDUFAF2	FARS2	NDUFS2	CPT1C	NDUFA2	AP4E1	KIF1A	AP4M1	LIPT1	RAB3GAP2	NDUFS1	FOXRED1	ECHS1	CCT5	KIDINS220	FA2H	SURF1	MTFMT	KPNA3	MT-ATP6	ARSI	KLC2	KY	SLC19A3	NDUFA12	AP5Z1	COX15	NDUFV1	TACO1	PLP1	ZFR	NDUFS8
HP_PAIN_INSENSITIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAIN_INSENSITIVITY	SPTLC1	SPTLC2	NTRK1	KDM5C	SCN11A	TDP1	SCN9A	TMEM218	MPV17	MECP2	ATL1	NGF	ATL3	CLTCL1	ZFHX2	EBF3	GRIA3	HDAC4	DDHD1	NGLY1
HP_PSEUDOBULBAR_PARALYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSEUDOBULBAR_PARALYSIS	RARS1	NONO	ADGRG1	ALDH18A1	B4GALNT1	LMNB1	ZFYVE26	NEFH	PI4KA	HMBS	CYP27A1	FIG4	SOD1	NOTCH3	PRPH	DCTN1	SEC31A	HTRA1	TGM6	SRPX2
HP_CEREBRAL_BERRY_ANEURYSM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_BERRY_ANEURYSM	THSD1	PKD1	ANGPTL6	COL3A1	ENG	TGFBR3
HP_NONPROGRESSIVE_ENCEPHALOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NONPROGRESSIVE_ENCEPHALOPATHY	KYNU	HSD17B10	UNC80	PNPT1	FBLN1
HP_CEREBELLAR_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBELLAR_DYSPLASIA	KIAA0586	LAMA1	RAC1	FKTN	GPSM2	ADGRG1	RXYLT1	POMGNT1	KIAA1109	THOC2	CDC42	FKRP	SRPX2	COG1	PTEN	MICU1	PI4KA	POMT2	ARMC9	B3GALNT2	POMT1	IDH1	LARGE1
HP_GENERALIZED_HYPERREFLEXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_HYPERREFLEXIA	MPLKIP	GTF2E2	SLC52A3	SPG7	SLC2A1	ERCC2	GTF2H5	ABCD1	EEF2	ERCC3	TARS1	RNF113A
HP_HYPOPLASIA_OF_OLFACTORY_TRACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_OLFACTORY_TRACT	OFD1	CPLANE1	TMEM216	SOX9	TOPORS	KIF7	FAM149B1	TCTN3	KIAA0753	PDE6D
HP_CHRONIC_LYMPHOCYTIC_MENINGITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_LYMPHOCYTIC_MENINGITIS	CIITA	RFX5	SLC35C1	RFXANK	RFXAP
HP_FOCAL_WHITE_MATTER_LESIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_WHITE_MATTER_LESIONS	TSC1	MTRFR	SLC25A4	ADNP	TWNK	POLG2	POLG	TREX1	TSC2	MTOR	ZEB2	RNASET2	PIK3C2A	PDP1	RRM2B
HP_LARGE_BASAL_GANGLIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_BASAL_GANGLIA	CC2D1A	IQSEC1	SLC45A1	RSRC1	PRSS12	DCPS	TNIK	B3GALNT2	ZEB2	NCDN	KDM5B	GRIK2	FMN2	CLIP1	MED25	CRADD	PIGC	FRRS1L	ZC3H14	METTL23	ST3GAL3	WASHC4	ALKBH8	PGAP1	TUBB3	AIMP1	MBOAT7	HNMT	EDC3	MED23	TRAPPC9	MAN1B1	SARS1	UFSP2	CRBN	NDST1	GRM7	TTC5	ATR	NAA20	LINS1	TUSC3	TECR	LMAN2L	FBXO31	SLC12A2	UBE4A	NSUN2	EZR	NEMF	AP1G1	C12orf4
HP_MULTIFOCAL_CEREBRAL_WHITE_MATTER_ABNORMALITIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIFOCAL_CEREBRAL_WHITE_MATTER_ABNORMALITIES	GAA	RNASEH2B	TRAPPC9	RNASEH2A	PUS3	NOTCH3	TREX1	RNASEH2C	ADAR	IFIH1	SAMHD1	SLC25A15	D2HGDH
HP_GENERALIZED_CEREBRAL_ATROPHY_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_CEREBRAL_ATROPHY_HYPOPLASIA	ADGRV1	SCN2A	PLA2G6	GABRG2	SCN1B	HCN1	TBP	STX1B	SCN1A	SCN9A	GABRD
HP_DISTAL_PERIPHERAL_SENSORY_NEUROPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_PERIPHERAL_SENSORY_NEUROPATHY	MT-CO1	MT-TF	MT-ND6	DKK1	SPG11	HADHB	MT-ND1	MT-ND4	MT-CO2	MT-TH	HADHA	MT-ND5	IBA57	MT-TS2	MT-TQ	GSN	MT-TW	MT-CO3	MT-TL1
HP_INFERIOR_VERMIS_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFERIOR_VERMIS_HYPOPLASIA	L1CAM	ASXL3	LAMA1	BMP4	INTS1	KIAA0753	GRM1	MDH1	BRF1	PIEZO2
HP_THICK_CORPUS_CALLOSUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICK_CORPUS_CALLOSUM	PIK3R2	HERC1	CNOT3	ODC1	KDM3B	SZT2	NONO	PRMT7	VPS13B
HP_EXTRAPYRAMIDAL_MUSCULAR_RIGIDITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXTRAPYRAMIDAL_MUSCULAR_RIGIDITY	MAPT	MICU1	HLA-DQB1	RNASEH2B	RNASEH2A	TAF1	PRNP	TREX1	RNASEH2C	OPA3	ATP6AP2	ADAR	IFIH1	SAMHD1
HP_DECREASED_AMPLITUDE_OF_SENSORY_ACTION_POTENTIALS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_AMPLITUDE_OF_SENSORY_ACTION_POTENTIALS	SPTLC1	SPTLC2	MORC2	TRPV4	UQCRC1	FXN	VPS13A	HK1	ATL1	MPV17	LMNA	ATL3	SORD	ATXN1	SBF2	CCT5	DHX16	NDRG1	HSPB8
HP_DILATED_THIRD_VENTRICLE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DILATED_THIRD_VENTRICLE	TAOK1	KIAA0586	USP7	ATP6AP2	ODC1	CSPP1	DNMT1	MED25	C2CD3	KIDINS220
HP_HYPERACTIVE_PATELLAR_REFLEX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERACTIVE_PATELLAR_REFLEX	PGM3	NONO	SACS	SDHD	HARS1	C19orf12	ARL6IP1	SDHB	COX4I1	SDHA	IBA57	SDHAF1	ALDH18A1	ATP13A2
HP_SOCIAL_AND_OCCUPATIONAL_DETERIORATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SOCIAL_AND_OCCUPATIONAL_DETERIORATION	SYN2	MAPT	CHI3L1	APOL4	DRD3	HTR2A	APOL2	CREBBP	DAOA	MTHFR	RTN4R	COMT	GRIN2A	EP300
HP_CHIARI_TYPE_I_MALFORMATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHIARI_TYPE_I_MALFORMATION	MAF	NFIA	DNMT3A	NONO	SETBP1	DKK1	ELN	NOTCH3	KRAS	MLXIPL	SPRED1	SH2B1	NOVA2	KANSL1	NFKB2	PPP1CB	EP300	ZEB2	TAOK1	SKI	SMO	SLC39A14	CREBBP	DHDDS	PAX2	FGFR2	HRAS	CDC45	CWC27	POLR3A
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	ADSL	POLG	SAMHD1	GALC	LAMA2	FDXR	TREX1	PSAP	UBE2A	TYMP	ZEB2	KARS1	GFM2	ADORA2A
HP_INFANTILE_ENCEPHALOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFANTILE_ENCEPHALOPATHY	STXBP1	GCDH	SLC19A3	ZNHIT3	TK2	CCDC88A	TSEN54	D2HGDH
HP_DEMYELINATING_PERIPHERAL_NEUROPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEMYELINATING_PERIPHERAL_NEUROPATHY	SACS	MT-TL1	PMP22	HK1	RNASEH2B	SELENOI	POLG	BAG3	ACO2	MT-ND2	ADAR	MT-ND3	ERCC3	NEFL	RFC1	MT-ND4	AFG3L2	ERCC2	ERCC4	SH3TC2	GDAP1	NDRG1	MT-ND6	LIG3	GJC2	DNAJC3	ERCC6	DEGS1	MT-TK	ERCC5	MT-ND5	HARS1	TYMP	RRM2B	DMXL2	RNF168	MT-TW	RNASEH2A	ZFYVE26	SOX10	TREX1	RNASEH2C	MT-TV	ERCC8	MT-ATP6	IFIH1	PLP1	SAMHD1	MANBA	MPZ	MT-ND1
HP_PERIVENTRICULAR_CYSTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIVENTRICULAR_CYSTS	PDHX	LIPT2	ODC1	CTBP1	NSD2	CPLX1	FGFRL1	FARSA	OCRL	LETM1	PDHB
HP_CENTRAL_HYPOVENTILATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_HYPOVENTILATION	MECP2	TPM3	SCO2	NDUFAF2	DCTN1	NDUFS2	PHOX2B	HOXA1	SURF1	NDUFAF3	NDUFB8	RET	LBX1	ASCL1	MYPN	TPM2
HP_TEMPORAL_CORTICAL_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TEMPORAL_CORTICAL_ATROPHY	TMEM106B	BICRA	ABCA7	CHMP2B	PSEN1	VCP	CYB5A	GRM7	TREM2	NEK1	GRN	OPHN1	PDE6D	CAMTA1	MAPT	RNU4ATAC	CYB5R3	C9orf72	ADARB1	CPA6	COG1
HP_PROXIMAL_AMYOTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_AMYOTROPHY	PRKAR1A	DYSF	PDE11A	CRPPA	TMEM43	LMNA	POMT2	MT-TE	DYNC1H1	FUS	POMT1	CDH23	ADSS1	MGME1	FKRP	ANO5	FHL1	STIM1	PDE8B	TFG	FKTN	TNXB	SYT2	SGCD	CAPN3	SYNE1	TNNT1	PRKACA	MORC2	ARMC5	MYH7	MYOT	SYNE2	DOK7	TCAP	REEP1	USP8	GNAS	NEFL	EMD	PEX6	GFPT1	HNRNPDL	SMN1	SGCB	TRPV4	RYR1
HP_PROGRESSIVE_PERIPHERAL_NEUROPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_PERIPHERAL_NEUROPATHY	PSAP	ARSA	LYST	ABCA1	COA8
HP_SENSORIMOTOR_NEUROPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SENSORIMOTOR_NEUROPATHY	SACS	AIFM1	MT-TL1	MT-ND6	MPV17	OPA1	ATP1A1	HSD17B4	MRE11	COA3	DNM1L	PMP22	PIK3R5	AMACR	MT-ND3	IFRD1	RFC1	NGLY1	MME	HADHA	PNKP	PSAP	VCP	MT-TS2	KIF5A	SLC52A2	IGHMBP2	LIG3	MT-TW	PIGB	RNASEH1	HADHB	MT-TH	KIF1A	AHCY	GALC	DHH	MT-TK	LAMA2	MT-CO1	NEFL	RRM2B	PEX7	MT-ND1	MT-ND5	PDK3	MT-TV	MT-ATP6	PLA2G6	VPS13D	SCYL1	FDX2	PPP2R2B	CLP1	CLCF1	POLG	PHYH	SPTLC2	MT-ND2	IARS2	MT-TF	B2M	UCHL1	RPIA	MT-ND4	AFG3L2	B4GALNT1	SPG11	TFG	SH3TC2	ABHD12	GJB1	MT-CO3	SLC25A46	TDP1	ABCD1	PDYN	MT-CO2	DNAJC3	GBA2	TYMP	GDAP1	SETX	VPS41	SLC30A10	COA8	NEFH	PEX6	XRCC1	MT-TQ	MPZ
HP_DISTAL_UPPER_LIMB_AMYOTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_UPPER_LIMB_AMYOTROPHY	GDAP1	BSCL2	DYSF	TIA1	NEB	LMNA	CADM3	FLNC	GIPC1	PLOD3	GARS1	KANSL1	PMP22	INF2	MATR3	SQSTM1	FXN	ACTA1	CAV3	SLC25A21	SPG11	CEP126	VCP	JAG1	TNR	NOTCH2NLC	RYR1	SLC39A13	DCTN1	CPLANE1	FUZ	TRPV4	CHCHD10	GJB1	KLHL9	LDB3	HARS1	ALS2	NEFL	COMP	SLC52A3	PDK3	HINT1	SVBP	REEP1	NGLY1	MPZ
HP_PROGRESSIVE_EXTRAPYRAMIDAL_MOVEMENT_DISORDER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_EXTRAPYRAMIDAL_MOVEMENT_DISORDER	RARS1	ZNF592	WDR73	PLA2G6	ATP13A2	MICU1	GAMT	CLPB	FA2H
HP_FLUCTUATIONS_IN_CONSCIOUSNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLUCTUATIONS_IN_CONSCIOUSNESS	SLC25A13	MT-ND6	NDUFS2	YY1	MT-CO2	MT-TH	NDUFB8	MEN1	ALAD	SNCA	MT-TL1	MT-CO1	MT-TF	SCO2	MT-ND1	MT-ND4	SURF1	SNCB	NDUFAF3	MT-ND5	MT-TS2	MT-TQ	GBA	MT-TW	MT-CO3
HP_SLOWED_SLURRED_SPEECH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLOWED_SLURRED_SPEECH	MAPT	PODXL	SPG7	DNAJC6	SYNJ1
HP_PERIVENTRICULAR_HETEROTOPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIVENTRICULAR_HETEROTOPIA	FMR1	ZSWIM6	SLC25A24	MAN1B1	ARF1	KATNB1	ANKRD11	NEDD4L	KAT8	ERMARD	DCHS1	VPS35L	RTTN	CSGALNACT1	CSF1R	KAT6B	MAP1B	PDHB	ZEB2	C2CD3	APC2	ARFGEF2	FLNA	DHCR7	TBC1D24	ZNF292	TMTC3	CDH2	FAT4	DHX16	INTS8	CPLX1	ZMIZ1
HP_PAROXYSMAL_DYSKINESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAROXYSMAL_DYSKINESIA	GRIN1	SCN8A	PNKD	KCNMA1	ATP1A3	PRRT2	ATP1A2	SLC2A1	SH2B1	CACNA1A	SLC1A3	PDE2A
HP_MOTOR_POLYNEUROPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOTOR_POLYNEUROPATHY	PRPS1	TRPV4	SLC25A1	SYT2	CPOX	MYO9A	SELENOI	AGRN	SLC5A7	HMBS	CHAT	UBA1	ALAD	ARL6IP1	NEFL	SLC18A3	VAMP1	SCO2	SNAP25	LYST	SPG11	COL13A1	SYNE1	TFG	SLC12A6	HINT1	GARS1	CTDP1	REEP1	ALDH18A1	BSCL2	GJC2	PPOX
HP_PERIPHERAL_HYPOMYELINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_HYPOMYELINATION	SOX10	FIG4	FGD4	HK1	CTDP1	EGR2	KCNJ10	DHX16	GDAP1
HP_FOCAL_T2_HYPERINTENSE_BASAL_GANGLIA_LESION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_T2_HYPERINTENSE_BASAL_GANGLIA_LESION	MT-TL1	NDUFAF2	TACO1	NDUFS2	ETHE1	NDUFS4	SUCLG1	NDUFAF6	COQ2	NDUFV2	NDUFA2	PRNP	NDUFA13	LIPT1	MT-ND2	NDUFS1	FOXRED1	ECHS1	MT-TK	NDUFA4	SURF1	MT-ND5	MTFMT	MT-ND3	NDUFS3	MT-ND4	SDHA	PET100	MT-TW	SPG11	SLC19A3	PDSS2	NDUFA9	NDUFA12	LRPPRC	COX15	NDUFS7	NDUFV1	MT-TV	PDHA1	MT-ATP6	NDUFAF5	MT-ND6	NDUFS8	NDUFA10	MT-ND1
HP_LOSS_OF_CONSCIOUSNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOSS_OF_CONSCIOUSNESS	STAT6	NOTCH2NLC	GCDH	ACADM	UCP2	MTRR	KCNJ11	UNC93B1	GK	CPT1A	TRAF3	HNF1A	TICAM1	SLC19A3	NAB2	MT-CYB	GLYCTK	KCNQ1	TBK1	NOTCH3	TLR3	KCNE1	ABCC8	ADORA2A	NAGS
HP_NEURONAL_LOSS_IN_THE_CEREBRAL_CORTEX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEURONAL_LOSS_IN_THE_CEREBRAL_CORTEX	TBK1	SQSTM1	CHCHD10	VCP	TARDBP	C9orf72	FUS	PC
HP_PROGRESSIVE_SPASTIC_PARAPARESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_SPASTIC_PARAPARESIS	GALC	SPG7	ABCD1	SELENOI	FA2H	CPT1C	TBCE
HP_DIFFUSE_WHITE_MATTER_ABNORMALITIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFUSE_WHITE_MATTER_ABNORMALITIES	PNKP	GRIN1	DMXL2	HERC1	TRIM8	FKRP	KCNA1	NDUFS2	TIMM50	POMT2	PLP1	NDUFB8	NEUROD2	CASK	CDKL5	SCN1B	POMGNT1	HEPACAM	HTRA1	PIGQ	POMT1	POMK	SCN2A	PIGP	PLEKHG2	SCO2	SIK1	SURF1	NDUFAF3	SLC25A22	GMPPB	GLB1	VPS11	GRM7	GNAO1	ARX
HP_HEMIMEGALENCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMIMEGALENCEPHALY	TSC1	DEPDC5	SMO	AKT3	KRAS	NPRL2	PTEN	TSC2	NRAS	MTOR	PIK3CA	IFNG	NPRL3	HRAS
HP_PHOTOSENSITIVE_TONIC_CLONIC_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHOTOSENSITIVE_TONIC_CLONIC_SEIZURE	SCN1A	SCN1B	GABRG2	SCN2A	SCN9A	PCDH19	GABRA1	GABRD	CLCN2	EFHC1	CILK1	SLC9A6	KCNQ3	JRK	CACNB4
HP_FACIAL_PARALYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_PARALYSIS	CACNA1A	SH3TC2	CLCN7	PRRT2	ATP1A2	TNFSF11	COL4A1	SCN1A	TCIRG1
HP_LOWER_LIMB_AMYOTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_LIMB_AMYOTROPHY	KIF1A	SLC33A1	BSCL2	DYSF	TPM3	HK1	MT-TE	CADM3	GIPC1	FBXO38	ADSS1	INF2	VWA1	MAG	RTN2	FARS2	CYP7B1	FLRT1	PMP22	ATXN3	KRT5	YY1	TFG	ATAD3A	NOTCH2NLC	KIF5A	UBAP1	NDRG1	GJB1	MYPN	MORC2	KDM5C	ANO5	CPT1C	HSPB1	FLNC	ATL1	MFN2	LMNA	FITM2	TCAP	GNE	NEFL	NEXMIF	FAM126A	KRT14	KAT6A	CUL4B	NEFH	ARSI	KLC2	KY	PDK3	PLP1	HINT1	BICD2	FGD4	RYR1	TPM2
HP_MACROGYRIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACROGYRIA	POMGNT2	POMT1	FKRP	ACTB	LARGE1	FKTN	DAG1	B3GALNT2	PEX2	B4GAT1	DHCR24	COL4A1	CASK	PLP1	POMK	ACTG1	CRPPA	NFIX	RXYLT1	POMT2	POMGNT1
HP_DECREASED_DISTAL_SENSORY_NERVE_ACTION_POTENTIAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_DISTAL_SENSORY_NERVE_ACTION_POTENTIAL	SBF2	MORC2	TRPV4	HK1	MPV17
HP_PROGRESSIVE_GAIT_ATAXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_GAIT_ATAXIA	SPTBN2	CACNA1A	TPP1	ATP13A2	PSAP	SACS	GABRG2	SCN9A	SETX	ARSA	ATXN3	FA2H	EEF2	SCN1A	TWNK	SCN1B	PRRT2	SCN2A	UBE3A	PCDH19	ANO10	MTPAP	PEX10	GABRA1	MT-ATP6	SNRPN	POLG	ATP1A2	ALDH18A1	GJB1
HP_ABNORMAL_PYRAMIDAL_SIGN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PYRAMIDAL_SIGN	SLC6A3	SACS	UBAP1	IL12A-AS1	SLC12A5	TARDBP	IL12A	MECP2	SELENOI	NALCN	MT-TE	RTTN	CLCN4	MAPT	SLC2A1	PRSS12	OPA3	TPP1	AP4B1	SDHA	NT5C2	TAF2	FXN	L2HGDH	GPT2	PLA2G6	TIMM8A	CHCHD10	ATXN3	ATXN1	PYCR2	CYP27A1	ERCC3	AP2M1	NDUFS7	MORC2	HLA-B	MPLKIP	RNASEH1	ERAP1	POLR3A	HTT	MT-ATP6	PEX7	ATP13A2	ALS2	SPG7	C19orf12	GTF2E2	CHP1	EIF2S3	NIPA1	KY	FA2H	TSEN15	VCP	RNASEH2C	STAT4	IFIH1	SYNJ1	PSAP	DPYS	GLRX5	SQSTM1	PRICKLE1	SNX14	CAV1	ERLIN2	SNCA	RPS20	DNMT1	ARHGEF6	RTN2	DNAJC6	DARS2	PDGFB	AP4S1	ATP1A3	IQSEC2	ASPA	AP4E1	PLP1	MDH2	AP4M1	CACNA1A	PPP2R2B	CCT5	GJC2	SPG21	MTRFR	TH	SLC39A14	EPCAM	ZNF711	TARS1	GRID2	TSPOAP1	NAGA	DEGS1	TRMT5	TSEN54	GBA2	STUB1	CYP2U1	TMEM63A	ALDH18A1	ATXN7	TANGO2	CWF19L1	MTPAP	ZFYVE26	NKX6-2	USP9X	NEXMIF	TGM6	SLC44A1	FBXO7	ETHE1	TACO1	VWA3B	ADGRG1	GCH1	POMGNT1	IBA57	DNM1L	NDUFA13	ADAR	MLH3	PTEN	TLR4	SAMD9L	SLC6A1	MAN2B1	TGFBR2	WWOX	ARSA	SNORD118	SLC25A46	CHMP2B	TREM2	MSH2	DLG3	DDHD1	KRAS	GRM1	CLPB	CPT1C	SLC25A15	CLDN11	COQ2	KIF1A	RUSC2	MAG	SLC33A1	FUS	HSPD1	POMK	ADD3	FRMPD4	DMXL2	CNTNAP1	TBC1D20	PEX10	AFG3L2	RAB39B	PANK2	PODXL	CTDP1	DSTYK	GBE1	BRAT1	PRKRA	NFASC	VPS13D	ARX	APOE	IDUA	SLC2A3	ABCD1	CNP	COL4A1	IFNGR1	AGTR2	CAPN1	SLC16A2	C4A	UCHL1	NEFL	SPG11	BMPR1A	B4GALNT1	PIGT	SCN1A	SPAST	SLC1A3	FAN1	TBC1D24	GJB1	ALDH3A2	MTTP	PGAP1	SIGMAR1	ACOX1	SETX	DNAJC3	TFG	AIMP1	SDHAF1	USP27X	ERLIN1	COQ8A	ATL1	IL23R	HPDL	SDHD	ZNF81	CACNA1G	FTL	RNASEH2A	PAK3	PNPLA6	KCNA1	PHYH	DPM3	BSCL2	REEP2	TTPA	PARS2	IRF4	HTRA1	PMP22	WASHC5	PET117	FARS2	TSEN2	PRPS1	ZNF41	RFC1	CYP7B1	AIFM1	TYROBP	NOP56	SLC19A3	CHD2	GDI1	LARGE1	HADHA	FTSJ1	KARS1	ATN1	NUP62	KIF1C	GM2A	FGF13	JAM2	THG1L	HADHB	NDUFA4	RNF170	DLAT	MLH1	KPNA3	SLC20A2	SOD1	KIF5A	SLC9A7	CNKSR2	FAR1	UBAC2	UBTF	BCAP31	TTBK2	MCOLN1	DKK1	RNASEH2B	SLC1A4	MEFV	TSEN34	IREB2	ATXN10	DMD	SYNGAP1	SCN1B	MFN2	SEPSECS	SEMA4A	ACSL4	DDC	POLR3B	GMPPB	CTC1	GAN	NUBPL	SYP	GTF2H5	CCR1	PDYN	DDHD2	REEP1	TSPAN7	PRNP	PMS2	PCYT2	NDUFS1	MED12	PIK3CA	ERCC2	TMEM106B	NEFH	TTC19	ADPRS	SAMHD1	MPZ	VAMP1	IL1RAPL1	PI4KA	ATP6AP2	PIK3R5	EEF2	ELOVL4	ZFYVE27	COA8	SDHB	IL10	CTSF	UGDH	KDM5C	PMS1	MID2	NDUFS4	POMT2	MYORG	ALG13	POMT1	PSEN1	RNF113A	EPRS1	FAM126A	LMNB1	SYNE1	GALC	STEEP1	MTFMT	ZFR	TBK1	PLAA	NDUFS2	FKRP	DARS1	ATP1A2	MSH6	GFM2	OPA1	SPART	C9orf72	COX20	SOX10	RRM2B	UPF3B	RORA	RPS6KA3	KCNA4	ABCB7	ABHD12	KLRC4	ATXN8OS	SHMT2	AAAS	PTCHD1	CARS1	PDGFRB	GRIA3	CAMTA1	FUCA1	VPS41	KCNC3	FAS	TREX1	VPS13C	TBP	HCFC1	BCAT2
HP_SEVERE_DEMYELINATION_OF_THE_WHITE_MATTER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_DEMYELINATION_OF_THE_WHITE_MATTER	L2HGDH	PPP1R15B	PRPS1	MMACHC	TRMT10A	PYCR2	PIGG
HP_TYPE_II_LISSENCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPE_II_LISSENCEPHALY	LAMB1	FKTN	FKRP	RXYLT1	LARGE1	POMT2	POMGNT1	POMGNT2	CRPPA	POMT1	POMK	B3GALNT2	TUBB3	GMPPB	B4GAT1
HP_CEREBRAL_DYSMYELINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_DYSMYELINATION	HSD17B4	PSAP	PTEN	MPLKIP	GTF2E2	MCOLN1	ABCD1	PHGDH	ERCC2	GTF2H5	CTSK	ADGRG1	TARS1	PLP1	SOX10	ERCC3	RNF113A
HP_CHRONIC_AXONAL_NEUROPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_AXONAL_NEUROPATHY	COG8	GDAP1	SYNE1	HSPB1	KCNJ10	SETX	SPTLC1
HP_SPINAL_MUSCULAR_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPINAL_MUSCULAR_ATROPHY	BICD2	MORC2	SIGMAR1	SMN1	TK2	TBCE	ATP7A	VAPB	IGHMBP2	DYNC1H1	CHCHD10	UBA1	ASCC1	TRIP4	FBXO38	KCNK9	ASAH1	EXOSC8	PLEKHG5	DNAJB2	VRK1	TRPV4	SMN2
HP_ATYPICAL_ABSENCE_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATYPICAL_ABSENCE_SEIZURE	NHLRC1	UBE3A	KCNMA1	AP2M1	GABRG2	SCN9A	FRRS1L	PAFAH1B1	CHD2	KCNB1	TRIM8	DNM1	CACNA1A	CEP85L	GRIN2A	EPM2A	ZEB2	PCDH19	MAPK10	SCN1A	SCN1B	SCN2A	CUX2	KCNT2	GABRA1	GABRB3	SRPX2
HP_PROGRESSIVE_PSYCHOMOTOR_DETERIORATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_PSYCHOMOTOR_DETERIORATION	KCTD7	HEXB	SDHD	SDHB	PSAP	PMPCA	SDHA	ARSA	GLB1	BSCL2	SDHAF1	CYP27A1
HP_DEVELOPMENTAL_STAGNATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVELOPMENTAL_STAGNATION	RARS1	ACAN	ZNHIT3	SCN1B	MCOLN1	GABBR2	VPS11	ST3GAL5	PTPN23	KIF5A	CDKL5	SMC1A	ACER3	SATB1	POLR2A	GLB1	MECP2	NUP62	NTNG1	PHGDH
HP_LIMB_FASCICULATIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_FASCICULATIONS	VCP	HINT1	SMN1	TFG	HSPB1	SMN2
HP_POSTERIOR_FOSSA_CYST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_FOSSA_CYST	FKTN	POMT2	CSPP1	FGFR2	ABAT	WASHC5	POMT1	GDF6	DPH1	VSX1	PUF60	FKRP	LARGE1
HP_OROMOTOR_APRAXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OROMOTOR_APRAXIA	DLL1	GLI2	PTCH1	TDGF1	NODAL	GAS1	SHH	FOXH1	TUBB2B	SRPX2	STIL	ZIC2	SIX3	SMC1A	TGIF1	STAG2	DDOST	FGFR1	CDON	VPS11	DISP1	FOXP2	ADGRG1	FGF8	FOXP1	PI4KA
HP_CNS_DEMYELINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CNS_DEMYELINATION	ALDH3A2	EIF2B1	EIF2B4	MAT1A	LRPPRC	INSR	CSF1R	ABCD1	PDYN	ADAT3	ACOX1	TREX1	ASPA	GFAP	HLA-DRB1	RERE	ERCC8	PPP1R15B	GALC	ATXN2	MTTP	PDCD1	HTRA1	CYP27A1	EIF2B3	ERCC6	SUMF1	L2HGDH	PRPS1	PSAP	HLA-DQB1	TRMT10A	PIGG	PRF1	PEX19	TNR	MMACHC	TREM2	EIF2B5	PYCR2	EIF2B2	ERCC1
HP_EXTRAPYRAMIDAL_DYSKINESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXTRAPYRAMIDAL_DYSKINESIA	TSEN54	TSEN2	DPYS	SLC2A1	ACAT1	C9orf72
HP_SHORT_STEPPED_SHUFFLING_GAIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_STEPPED_SHUFFLING_GAIT	ATXN8OS	COL2A1	GLUD2	NR4A2	PRKAR1B	MAPT	SNCAIP	ATXN2	ADH1C	TBP	TRPV4	PODXL	DNAJC6	MT-TT	SYNJ1	DCTN1	GBA
HP_GENERALIZED_DYSTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_DYSTONIA	GCH1	TH	TIMM8A	ACTB	JAM2	AOPEP	SUOX	MRPS25	THAP1	TSPOAP1	VPS41	LRPPRC	TNR	HPCA	TUBB4A	FA2H	PANK2
HP_MIXED_DEMYELINATING_AND_AXONAL_POLYNEUROPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MIXED_DEMYELINATING_AND_AXONAL_POLYNEUROPATHY	MT-CO1	MT-TF	NEFL	MORC2	MT-ND6	MT-ND1	MT-ND4	MT-CO2	MT-TH	MT-ND5	MT-TS2	MT-TQ	MT-TW	ATP7B	MT-CO3	MT-TL1
HP_IMPAIRED_PAIN_SENSATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_PAIN_SENSATION	SPTLC1	SPTLC2	AIFM1	CDKL5	SCN11A	LIFR	HK1	MADD	MPV17	FLII	ABCA1	SORD	CLTCL1	NDN	HERC2	DEAF1	PMP22	NTNG1	SHANK3	ZEB2	SNRPN	SCN9A	MECP2	PWRN1	PRPS1	ATL3	CHAMP1	ATXN1	H19	ZFHX2	VCP	JAG1	SH3TC2	RAI1	MKRN3	SNORD115-1	GDAP1	DDHD1	FBN1	NTRK1	KDM5C	TDP1	GJB1	LMX1B	ATL1	SMC1A	HSPB1	ELP1	CCT5	MFN2	EBF3	GRIA3	HARS1	HDAC4	HNRNPK	NEFL	IQSEC2	GABBR2	KCNQ1OT1	NPAP1	TMEM218	MAGEL2	NGF	SNORD116-1	PWAR1	UBTF	IGF2	NGLY1	MPZ
HP_HYPOPLASIA_OF_THE_FRONTAL_LOBES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_FRONTAL_LOBES	CEP63	CEP135	PHC1	PYCR2	CEP152	RTTN	TRAPPC14	WDR62	METTL5	BRAF	KIF14	CDK5RAP2	DPM1	ASPM	KNL1	SASS6	FIG4	STIL	CENPJ	RNU4ATAC	CDK6	CIT	ANKLE2	DHCR7	MFSD2A	FDXR	NCAPD3	COPB2	SLC35C1	ARHGEF9	MCPH1	TAF13	VAC14
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	RELN	SCN2A	NHLRC1	SLC12A5	GRIN2A	SCN8A	PUS3	COQ2	KCNB1	KCTD7	TRIM8	KCNQ2	SRPX2	CEP85L	PSAP	KCNMA1	KCNQ3	GAL	EPM2A	LGI1	MICAL1	KCNJ11	GABRG2	PRRT2	PDSS2	DEPDC5	CNTNAP2	SLC22A5
HP_HYPERMETRIC_SACCADES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERMETRIC_SACCADES	XRCC1	GRM1	VPS41	ATXN1	TPP1	TMEM240	VPS13D	GDAP2	ANO10
HP_LOWER_LIMB_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_LIMB_MUSCLE_WEAKNESS	ERGIC1	KIF1A	GABRA3	DYSF	MYO9A	AGRN	PI4KA	ERLIN2	GIPC1	CAPN3	IBA57	ABCD1	PLP1	PIEZO2	FBXO38	PMP22	WASHC5	GNE	ZFYVE27	VAMP1	CYP7B1	HADHA	PNKP	NF1	VCP	KIF5A	CACNA1S	UBAP1	ALDH18A1	DCTN1	DDHD1	BAP1	MYPN	MTHFR	NUP62	MORC2	CHCHD10	PNPLA6	SLC25A1	HADHB	SLC5A7	CPT1C	SMARCE1	MYH7	NF2	TPM3	ATL1	LMNA	MT-ATP6	HARS1	TCAP	ADAR	L1CAM	KPNA3	HSPD1	NEFL	SPG7	SLC18A3	TRAF7	MTRFR	SNAP25	RASA1	SMO	ZFYVE26	GMPPB	FAM126A	COL13A1	NIPA1	MYH14	PDK3	MT-CO3	AP5Z1	SYNE1	GALC	HINT1	GBA2	AKT1	DSTYK	CAPN1	SLC33A1	PRNP	GARS1	BSCL2	SYT2	HK1	VHL	TFG	CAV1	TTN	FLNC	SORD	MME	SPTLC2	SBF2	PLEC	CHAT	SCYL1	ADSS1	VWA1	RTN2	SCO2	SPG11	LPIN1	KCNJ18	AFG3L2	ANO5	KCNJ10	SMARCB1	FHL1	SPAST	MT-CO1	SPG21	NOTCH2NLC	SECISBP2	NDRG1	DGUOK	HSPB3	MTTP	TDP1	SUFU	TRPV4	JAG2	DDHD2	HSPB1	REEP1	DES	MFN2	FLI1	MAPT	GDAP1	TERT	GJB1	PDGFB	EXTL3	NEFH	ASAH1	FGD4	SARDH	HSPB8	SPART	PIK3CA	MPZ	TPM2
HP_ABNORMAL_MORPHOLOGY_OF_THE_LIMBIC_SYSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_THE_LIMBIC_SYSTEM	GRIN1	NDE1	VPS13A	GABRG2	SETD1B	ZEB2	DCC	CACNA1I	NTN1	KDM4B	CAMK2B	MED12L	OSTM1	PRICKLE2	KCNQ5	MBD5	ZMYND11	CIC	CDH15	SCN1A	TRPM3	SCN1B	KIF1A	DLL1	SCN2A	ASH1L	PCDH19	NBEA	CUX1	KIRREL3	GABRA1	CLTC	CAMK2A	GRM7	TUBB3	HIVEP2	TBC1D24	DOCK8	SLC35A2	RAB11A	NEK1	TCF4	DNAL4	CLCN3	CPLX1	CPA6	CHAMP1	PPP3CA	CSNK2B	CARS2	BICRA	DEAF1	ABCA7	VPS51	SCN9A	EPB41L1	GRIN2B	BRSK2	SET	DPYSL5	EEF1A2	ERBB4	SYNGAP1	MYT1L	CAMTA1	TAOK1	CACNG2	FGFR2	DYNC1H1	RAD51	NR2F1	RNU4ATAC	KDM5B
HP_ATROPHY_DEGENERATION_INVOLVING_THE_SPINAL_CORD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATROPHY_DEGENERATION_INVOLVING_THE_SPINAL_CORD	TWNK	NEFL	FXN	MORC2	SPG7	PNPLA6	CYP7B1	ABCD1	LYST	LMNB1	SPG11	PI4KA	DNAJC3	POLG	CCT5	MMACHC	FA2H	ALDH18A1	MTHFR
HP_HYPERREFLEXIA_IN_UPPER_LIMBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERREFLEXIA_IN_UPPER_LIMBS	HSPD1	ERLIN2	SPTLC2	CAPN1	SDHAF1	ALDH18A1	REEP1	ATP13A2	RTN2	KPNA3	SDHD	SDHB	SPG11	FTL	SDHA	SPAST	TNR	FAR1	KIF5A	UBAP1	VPS37A
HP_UPPER_LIMB_POSTURAL_TREMOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_LIMB_POSTURAL_TREMOR	CARS2	ANO3	TUBB4A	PMP22	LMNB1	MPZ	COL6A3	CACNA1G	ITPR1
HP_CEREBELLAR_CALCIFICATIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBELLAR_CALCIFICATIONS	PDGFB	PDGFRB	SLC20A2	ERCC6	ERCC8	JAM2	TREX1
HP_AMYOTROPHIC_LATERAL_SCLEROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMYOTROPHIC_LATERAL_SCLEROSIS	CFAP410	PFN1	TRPM7	FIG4	PPARGC1A	CHCHD10	FUS	MAPT	TARDBP	SPG11	ALS2	PRPH	SPTLC1	SIGMAR1	SETX	VCP	DCTN1	MATR3	TAF15	CYLD	ANG	TREM2	C9orf72	PON1	SOD1	ATXN2	OPTN	NEFH	TBK1	ANXA11	SQSTM1	CCNF	PSEN1	UBQLN2	GLT8D1	EPHA4	PON3	HNRNPA2B1	KIF5A	CHMP2B	GLE1	DAO	UNC13A	ERBB4	VAPB	TUBA4A	HNRNPA1	TIA1	NEK1	PON2
HP_FOCAL_ONSET_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_ONSET_SEIZURE	TSC1	SLC12A5	DCPS	CACNA1I	SZT2	NCDN	SRPX2	KANSL1	FAR1	KCNQ2	CDH15	SCN2A	PRRT2	GABRA1	YEATS2	CDH2	AP2M1	BAP1	MTHFR	NHLRC1	CHRNA2	SCN1A	GRIK2	SCN9A	MT-TH	SMARCE1	ERBB4	MYT1L	RPL10	TRAF3	CACNG2	MT-CO1	TRAF7	KCNT1	MT-ND1	STRADA	CLCNKB	DOCK7	LAMA2	TREX1	PDE2A	C12orf4	CNTNAP2	GNAO1	CC2D1A	ADGRV1	TBCK	SMC1A	CNTN2	AKT3	GRIN2A	CAMK2B	PUS3	TBC1D24	MTOR	FMN2	UNC93B1	ZMYND11	ZEB2	MT-TF	GABRG2	KCNQ3	TRPM3	DLL1	VPS11	ASH1L	COPB1	ATP1A3	ADRA2B	SLC2A1	SPTBN1	CACNA1A	HNMT	CHAMP1	DEAF1	KCNA1	RELN	MT-CO2	DNM1L	SMS	MARCHF6	POGZ	GABRA5	PCDH19	NARS1	TUSC3	GABRD	MT-TL1	LMAN2L	TERT	KCNJ11	PDGFB	GALNT2	TANGO2	NSUN2	TLR3	STX1B	FIG4	MAP1B	NEXMIF	ATP6V1B2	PIK3CA	GRIN1	SCN8A	SYN1	NEDD4L	CHD2	PSAP	CLIP1	PRICKLE2	SLC6A1	WASHC4	NPRL2	NGLY1	PGAP1	CAMK2A	POLG	PPP3CA	CARS2	GAMT	SAMD12	KCTD7	CDC40	SET	NAA20	FA2H	CABP4	TSC2	TECR	FBXO31	HCN1	SIK1	DYNC1H1	PI4KA	ATP1A2	GRM7	BRAT1	GLI3	ARX	KDM5B	PNKP	SPATA5L1	DMXL2	CDKL5	SETD1B	PRSS12	PTPN23	CASK	SCN1B	GRIA2	TUBB2B	RARS1	PLCB1	METTL23	ST3GAL3	EPM2A	CUX2	CLTC	TMTC3	RAB11A	TFE3	SLC1A3	LGI1	EDC3	MED23	CSNK2B	ADGRG1	ZNFX1	SLC13A5	SATB1	PPIL1	DEPDC5	DNM1	SDHAF1	PIGQ	CLCN4	CTNND2	SDHD	MT-ND4	PDSS2	GNB1	NBEA	PYCR2	MT-ND6	SUPT16H	VPS35L	PURA	NEUROD2	TRIM8	CEP85L	MED25	PIGC	TICAM1	ZC3H14	KIF1A	SMARCAL1	SDHA	TMEM231	MT-TW	TRAPPC9	FGF13	SARS1	KCNB1	NF2	DCX	SMO	GABRB3	EXOC7	EN1	DPAGT1	DOLK	NSD1	AKT1	AP3D1	IQSEC1	PACS1	SLC12A3	CRIPT	MED12L	SETD2	MBD5	GAL	CIC	FRRS1L	SYNGAP1	ARFGEF2	CUX1	KIRREL3	PIGS	TUBB3	CYP26C1	SMARCB1	MBOAT7	TCF4	NF1	MT-CO3	SUFU	POLR3A	CRBN	COQ2	TTC5	EPB41L1	GNB2	SLC25A22	PCYT2	LINS1	NPRL3	MICAL1	ALDH7A1	UBE4A	VAMP2	ARF1	EZR	CPA6	SLC22A5	APC2	AFF3	TGFB1	RSRC1	TNIK	ACO2	HHAT	OPHN1	DPYD	SDHB	HIVEP2	MT-TS2	CLN5	ARHGEF9	CLCN3	PHGDH	CRH	UFSP2	CLN8	PAFAH1B1	NDST1	SLC25A10	ERMARD	GRIN2B	EEF1A2	ACSF3	SLC12A2	AP4S1	MT-ND5	CHRNA4	SLC45A1	B3GALNT2	PLPBP	BTD	PNPLA8	KCNQ5	WARS2	CRADD	CACNA1D	HACE1	FLNA	ALKBH8	AIMP1	DOCK8	SEC31A	CPLX1	COL4A2	MAN1B1	CHRNB2	NUS1	BRSK2	DPYSL5	KCNMA1	CAMTA1	TAOK1	MAPK10	PIGP	EXTL3	TBK1	NEMF	ATXN10	MT-TQ	AP1G1
HP_APLASIA_HYPOPLASIA_OF_THE_CEREBELLUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_CEREBELLUM	RERE	SACS	WDR81	ACY1	FKTN	OFD1	TMEM237	RTEL1	TSEN54	ALX4	CEP120	B3GALNT2	SEMA6B	RTTN	TMEM216	TBCK	STUB1	MACF1	CWF19L1	DPM2	CDKN1C	GPC3	TINF2	POMT2	ACD	CDC42	ATP5F1A	MPL	CEP290	KCNQ1OT1	CEP41	MAPK8IP3	PIEZO2	DAG1	ERF	RAB11B	TERT	DOCK6	TMEM67	PCYT1A	FAM149B1	NELFA	AHI1	SYT2	GPC4	LAMB1	MAB21L1	COASY	ERCC2	RBM10	MSTO1	LETM1	MAN1B1	B9D1	TWIST1	RDH12	OTX2	EBF3	SMARCA4	RPL10	PACS1	CASK	NFIX	BICD2	ARMC9	ATG7	JAM3	HESX1	TOGARAM1	MYO7A	PCLO	LARGE1	CTNNA2	SMC3	MID1	PLK4	PHGDH	TUBGCP4	SLC25A24	RAC1	SNX14	NRAS	RHOBTB2	ERCC1	SMARCB1	CPLX1	CRPPA	NUP37	TCTN1	BUB1B	ATP6V1A	KIDINS220	ZEB2	ALG3	PPP2R1A	WDR73	SMG9	PTF1A	KMT2C	FOXC1	FGFR1	CLCN3	NDP	AFG3L2	TKFC	KIAA0586	ARID1A	FANCB	COL4A1	DHX37	SLC25A19	L2HGDH	WAC	PMM2	DYNC2I1	WDR26	FLNA	POMGNT2	EBP	TOPORS	SOX11	GPKOW	PLG	NDE1	NPHP1	BRF1	POLA1	ARID1B	CHD7	NAGA	RAB3GAP2	RAB18	CSPP1	SMARCE1	PIGN	PROKR2	MARS2	USH2A	POMT1	RNU4ATAC	KATNIP	DHCR7	CPT2	ITPR1	CEP57	NPHP3	LCA5	EHMT1	FTO	TCTN2	SMC1A	FIG4	CAMTA1	ATP6V1B2	FAR1	EPG5	SPATA7	ARNT2	ZIC1	ASXL1	DHFR	ADGRG1	RAD21	TSEN34	MRE11	POMGNT1	USP45	TRRAP	VPS4A	RAB3GAP1	VPS13B	USP9X	OXR1	PTEN	SIL1	C2CD3	MICOS13	NODAL	L1CAM	INPP5E	RBBP8	TUBGCP6	GRM1	CRX	TMEM138	KIAA0753	DOK7	CEP104	BRD4	ELN	MYMK	SMPD4	TMCO1	RNF113A	BMP4	ATR	CDC40	SMARCD1	TOE1	FKRP	OTUD5	GPAA1	ROGDI	TULP1	MEF2C	B4GALT1	SON	POMK	USP18	CTBP1	DMXL2	GOT2	EXOSC8	ZBTB11	NONO	GMPPB	PI4KA	PLP1	ALG6	MBTPS2	GLI3	EVC	ZNF423	FGFR3	RPGRIP1L	FLVCR2	HNRNPH2	TUBA1A	KCNJ13	SAMD9L	PPP1CB	TAPT1	MT-TL1	NUP88	TMEM107	MKS1	PIGT	BUB1	RPGRIP1	MT-TE	PIGU	DYNC1H1	ARL13B	FRMD4A	LRRC32	PAFAH1B1	B4GAT1	CDH23	TRIP13	PGAP1	ASXL3	FGFR2	CC2D2A	PSAT1	PPIL1	GPX4	ATP6V0A2	TAF1	PDE6D	DISC1	DYNC2H1	CPLANE1	PRKDC	IFT172	ATCAY	RPS6KA3	AP1S2	MYOD1	BCOR	WDR35	CIT	LAMA1	PIGG	TERC	RPE65	HDAC8	VPS35L	ABAT	MLXIPL	ARID2	KRAS	VLDLR	IFT140	MGME1	SRPX2	TBC1D24	TSEN2	ATG5	RARS2	SIX3	IGF2	TFAP2A	TMEM231	INTS8	RXYLT1	VAC14	WNT1	CACNA1G	IER3IP1	ALG12	CENPE	VPS51	THG1L	PIBF1	DCHS1	CENPF	RAPSN	CDK5	CCDC32	CSF1R	NSD2	SEMA3E	TNPO2	KIF14	IMPDH1	PTRH2	EXOC7	EN1	PARN	MINPP1	DPAGT1	ADGRV1	NSD1	PRRX1	EOMES	CHMP1A	AIPL1	SLC35A2	CARS2	GUCY2D	SOX4	COL3A1	DKC1	SETD2	PPP1R15B	SMARCC2	PMPCA	TUBB2B	COG1	HYLS1	TSEN15	SLC25A1	MAST1	WASHC5	TBC1D20	TRAPPC9	SEPSECS	FDXR	ERCC6	TUBB3	VANGL2	POLR3A	SOX3	ATAD3A	HDAC6	SLC25A46	HERC1	GJB2	TP53RK	LRAT	ATXN2	ZNF592	MUSK	NDUFA6	BUB3	ASNS	SASS6	EXOC2	HRAS	STAG2	B9D2	APC2	AFF3	EXOSC1	TUBB	MVK	ASPM	MT-TK	FAT4	HHAT	SOX2	SLC1A3	THOC2	GDF6	SPECC1L	OPHN1	NIPBL	GPHN	PIK3CA	DPH1	MAP2K2	WHRN	NCAPG2	DPF2	DYNC2I2	MYO5A	RD3	OCLN	VRK1	STAT2	CBY1	SRD5A3	ATP2B3	CCDC22	KIF7	KIAA1109	AHCY	TCTN3	INPP5K	ARL3	MTHFR	EVC2	ERMARD	ERCC5	SLC18A3	TXNDC15	SLC9A6	USH1C	PCGF2	CIB2	COQ4	NMNAT1	MFSD2A	WARS2	GFM2	YME1L1	DENND5A	PDHB	SUFU	ATP6V1E1	CRB1	CEP164	TRMT10A	GJA1	ZNF292	ATN1	INTS1	RORA	KCNQ1	ROBO3	USH1G	GPSM2	ESPN	LMNB1	PIGA	IQCB1	DPYSL5	GRIA3	IFT80	PCDH15	NEK1	PPP1R21	MDH1	TMEM218	RELN	ARSI	GJB6	RBM8A	CEP55	PDZD7
HP_ABNORMAL_PONS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PONS_MORPHOLOGY	EPG5	RERE	SACS	LAMA1	FKRP	EXOSC1	ZIC1	DCC	TSEN54	ADGRG1	RTTN	STUB1	POMGNT1	DPM1	INPP5E	FA2H	DOCK7	VPS4A	GPHN	KIAA0586	CDON	PTEN	APC2	TSEN2	TDGF1	GMPPB	VRK1	CEP290	SIX3	WNT1	GAS1	MAB21L1	TMEM216	CCDC88C	TMEM67	VPS51	PTCH1	POMT2	CASK	AHCY	TOE1	POMT1	POMK	ARL3	B3GALNT2	LAMA2	UBE2A	IDH1	GALC	PCLO	LARGE1	MINPP1	SNX14	ARHGEF2	DISP1	GLI2	DLL1	ATXN8OS	TRAPPC12	TSEN34	SLC5A6	TUBB2B	ALG3	PPP2R1A	TSEN15	CLCN3	SEPSECS	PIGS	NODAL	STIL	SMARCA2	RORA	ROBO3	PMM2	SHH	SLC25A46	PIGA	FOXH1	DAG1	BRF1	PPIL1	SETX	POGZ	ZIC2	NPHP1	ATXN2	CSPP1	FLI1	AHI1	MDH1	FGF8	RELN	TGIF1	ASNS
HP_ATROPHY_DEGENERATION_AFFECTING_THE_BRAINSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATROPHY_DEGENERATION_AFFECTING_THE_BRAINSTEM	ATXN1	LMNB1	OPA1	DNAJC3	COG8	TWNK	DEGS1	DNMT1	SPTAN1	DNM1L	FA2H	GFM2	TRRAP	KIF1A	TBCD	RARS2	ZNHIT3	CACNA1G	COG5	TRAPPC6B	SLC35A2	SYNE1	FARS2	DNAJC19	TBP
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	NDE1	NTNG2	TARDBP	DCPS	RTEL1	CACNA1I	NCDN	RTTN	TBCK	STUB1	EXOSC3	ABCD1	SMG8	TAF2	PCNA	SUMF1	L2HGDH	SNRPN	PLA2G6	CHCHD10	VCP	GABRA1	MED27	EIF4H	CYP27A1	CCNF	ERCC3	EXOSC5	MTHFR	MORC2	SUCLA2	TTC26	ERCC2	FH	CTSD	IGHMBP2	DSE	TECPR2	POLR3A	HTT	ERBB4	MT-ATP6	MYT1L	TBCD	ALS2	CASK	MT-CO1	NEFL	SPG7	C19orf12	BICD2	COG2	MT-ND1	ASAH1	NIPA1	EMC10	DOCK7	SHPK	ADK	PCLO	MARS2	TERT	SERAC1	GLYCTK	IFIH1	RNU7-1	SMC3	SYNJ1	CC2D1A	TRPM7	ARV1	PTPN23	TRIP12	TIMM50	MTR	SQSTM1	PSEN1	SNX14	NAA10	SIX3	TPRKB	PUS3	COQ9	TXN2	ERCC1	FUS	WIPI2	FMN2	DNMT1	POLG	ATP1A2	RTN2	ALG3	SLC33A1	MT-TF	GALC	SCN2A	TOMM40	COPB1	FRRS1L	IBA57	SPTBN1	HRAS	AP4E1	NOTCH3	CPLX1	SERPINI1	TBK1	FBXW11	WDFY3	TMEM106B	CACNA1B	LYST	RAB3GAP1	PPP2R2B	ITPA	MMACHC	MTRR	RNASEH2B	TRAPPC11	GJC2	MAPT	TCF20	CHAMP1	RMND1	CPLANE1	GRID2	SPG21	FUCA1	UBA5	DEAF1	SLC39A14	MAGEL2	KCNA1	DCTN1	SCYL2	NAXD	TARS1	POLA1	REPS1	PTCD3	GABRA5	GLB1	RAB3GAP2	DEGS1	GBA2	TUSC3	GABRD	BCORL1	RLIM	MT-TL1	METTL27	TRAPPC4	ALDH18A1	GABRB2	PIGN	STAMBP	NSUN2	NKX6-2	GRN	DYRK1A	FIG4	FADD	DCDC2	OCA2	PRNP	FASTKD2	MATR3	DYNC1I2	ADAT3	SCN1A	KDM6A	RAD21	AUH	TMX2	ADAR	VPS4A	ELN	GLUD2	SLC1A2	FMR1	PDHX	LIPT2	MAN2B1	VARS1	KCNA2	DHX30	NGLY1	FARSB	NODAL	AARS1	NUP214	FOLR1	KMT2E	CHMP2B	TUBGCP6	PPP3CA	ACY1	FKBP6	CLPB	NDN	LSM11	BRD4	CSF1R	PON3	RNF113A	PCCB	RAB18	PIGL	HPDL	GBA	CDK19	DGUOK	SET	SPATA5	ACTL6B	OTUD5	ROGDI	ERCC6	HCN1	GOT2	BUD23	WFS1	DNM1	DNAJC30	MBTPS2	BRAT1	SCN9A	TCF7L2	RNU4ATAC	ARX	SMN2	PNKP	PUS7	FLI1	VPS13A	SETD1B	NR4A2	GFM1	PLPBP	SYNCRIP	SCN1B	VPS37D	IARS2	RARS1	C9orf72	AGO2	UCHL1	ST3GAL3	EMC1	B4GALNT1	SIGMAR1	OSGEP	PIGT	COL18A1	PDHA1	RAB11A	ANXA11	GON7	PIGU	WDR81	CDH23	CNKSR2	MED23	PARS2	PGAP1	NECAP1	ANG	CLTC	COG8	AP4M1	YWHAE	PDE6D	ALG14	ATL1	GNAO1	CLCN4	COG4	KAT8	SETD1A	VAPB	CACNA1G	RNASEH2A	RNF216	RPS6KA3	COX4I1	FARS2	UBQLN2	SPAST	STAG1	PYCR2	TPI1	FKRP	YRDC	UFM1	MT-ND6	YIF1B	HDAC8	PURA	BCAS3	TRIT1	SETX	TREM2	NOVA2	ABCA7	KDM4B	WASHC5	KCTD7	KIF1A	PIGG	CYP7B1	SCO2	AIFM1	TRAK1	PCDH19	CNTNAP1	OSTM1	PSAP	TBP	MMADHC	ACTG1	LRP12	NAGA	PNPO	MT-TW	NUP62	ZMIZ1	TRAPPC9	GM2A	FGF13	PEX7	TBC1D24	PRKCZ	SLC16A2	HNRNPA2B1	SUCLG1	WARS2	NEFH	CTDP1	UGP2	PCK1	CDKL5	COX16	GABRA2	KPNA3	PHACTR1	LRRK2	TNRC6B	FTL	DNAJC13	FOXP2	EXOC7	ATP1A3	ADGRV1	NDUFA9	TPP1	AP3B2	BRAF	PFN1	TMEM70	XPA	RALGAPA1	SLC1A4	PLK4	KCNAB2	ERCC8	GRIN1	SPTAN1	PITRM1	PIGQ	CIC	COG1	NBEA	PIGS	FDXR	ACTL6A	MT-CO3	TK2	HERC1	SETBP1	EPHA4	PDPN	TP53RK	CLN6	NDUFB8	MYO7A	ATXN2	NDUFS1	LINS1	ZNF592	ERCC4	LONP1	COQ2	HIVEP2	ALDH7A1	UBE4A	TTC19	EZR	XPC	GRIA4	HS2ST1	ANKRD17	CFAP410	NALCN	APC2	AFF3	TGFB1	RSRC1	EXOSC1	VPS11	SRCAP	HSPG2	DPYD	GAD1	POGZ	SYNGAP1	PRPH	SATB1	MT-TT	MED17	NIPBL	DDB2	TAF15	SPEN	TWNK	MAP2K1	CELF2	VPS16	WHRN	CEP126	UBE3A	HSD17B10	KCNT1	TREX1	GRM7	NMNAT1	MT-TS2	NDUFV2	GMPPB	MYO5A	CTSF	UBAP1	VRK1	PNPLA6	CLN8	MPLKIP	MPDU1	STXBP1	ATXN3	HEPACAM	ALG13	BAZ1B	GABRG2	SLC12A2	TUBA4A	LHX1	EPRS1	HTRA2	UQCRC1	HNRNPA1	TCTN3	MT-ND5	PON2	IDUA	SOD1	HTRA1	PLAA	ATP13A2	SLC45A1	NDUFS2	KRAS	B3GALNT2	SVBP	POMT2	SLC13A5	KDM5B	PARN	DKC1	GRIK2	NBN	TRAPPC12	PRUNE1	KCNQ5	UNC80	CRADD	PSPH	GLUL	HACE1	WDR45	NUTM2B-AS1	ALKBH8	SPG11	SLC35A2	ATN1	WASF1	TANGO2	MOCS2	SLC35C1	ADSL	PEX16	TINF2	USH1G	NDUFA8	SLC25A15	ALG11	WDR73	MAN1B1	ESPN	PDYN	KIF7	BRSK2	PSEN2	UNC13A	B3GLCT	DHDDS	NDUFAF5	PCDH15	TAOK1	SLC25A22	RBM28	ATP6AP2	CLIP2	SMN1	MOCS1	CYB5A	GTF2IRD1	TRAPPC6B	VPS13C	COG7	NDUFA2	DALRD3	CWC27	SACS	SLC12A5	NAXE	OPA1	FGFR1	TRMT1	TSEN54	POLR3K	DPM1	DNM1L	FRMPD4	AP4B1	KIDINS220	EMX2	CDH15	FXN	GTF2I	ACTB	NCF1	TIMM8A	ZNHIT3	DOCK3	SCN3A	MAPK8IP3	DOCK6	NEK1	PEX19	NTRK2	SZT2	ALG1	SYT2	SBF1	NHLRC1	LIAS	MT-TH	CACNG2	GTF2E2	COG5	ATG7	NADK2	PAFAH1B1	FA2H	TSEN15	RNASEH2C	DPYSL5	NACC1	YWHAG	LARGE1	C12orf4	GLE1	GNAQ	TUBGCP4	CAMK2B	RHOBTB2	EIF2AK2	AIMP2	ZNF335	KCNMA1	ZMYND11	CLN5	IRF2BPL	DARS2	BCL7B	SMG9	CACNA1A	TRAPPC2L	TRPM3	KCNB1	AP4S1	DLL1	NDP	TRNT1	ASH1L	LYRM7	CCT5	BPTF	HNMT	SLC17A5	GPKOW	MED25	BTD	MT-CO2	PIGV	PRDM16	TRMT5	NARS1	VPS53	FBLN1	HNF1B	LMAN2L	USH2A	POMT1	TIA1	ATXN7	NDUFAF3	GRIN2D	CCDC32	AMPD2	ALG9	SMC1A	CAMTA1	EPG5	TDP1	DMPK	PRKAR1B	SNCA	SPTLC1	DHFR	RERE	CISD2	CLIP1	PRICKLE2	EHMT1	TRRAP	CYLD	SCN8A	CLN3	PON1	EEF1A2	RFC2	WASHC4	MECP2	FGFR3	CAMK2A	UBR7	PRDX1	CARS2	BICRA	GCDH	SLC39A4	PPT1	CPT1C	TMCO1	BMP4	ERCC5	APOE	TOE1	MAG	NAA20	ATP8A2	MEF2C	SON	TECR	FBXO31	MFSD8	ABHD5	SIK1	EXOSC8	TBC1D20	DYNC1H1	PANK2	PODXL	ATRX	OPTN	ADARB1	DMXL2	SLC2A3	PPARGC1A	PRSS12	CYFIP2	PMPCA	VPS41	LAGE3	GIGYF2	MAF	PCCA	ATAD1	GRIA2	COG6	METTL23	EIF4G1	RNF2	PRKN	EDC3	NTNG1	EXOSC9	CSNK2B	NEXMIF	CNOT3	DNAJC3	AIMP1	ELOVL4	PRKDC	MT-ND4	OTUD6B	BCS1L	AP1S2	RFT1	PQBP1	CACNA1E	CAD	MLXIPL	MRM2	MOGS	TMEM67	ABCD4	NEUROD2	TRIM8	ALG8	DNAJC6	PIGC	SEPSECS	ZC3H14	KCNQ2	TSEN2	PSMD12	MED13	RARS2	TYROBP	TFG	SURF1	GDAP2	LIMK1	ATP6V1A	SLC39A8	VPS33A	CLCN3	VAC14	PUF60	HSD17B4	SARS1	NUS1	JPH3	PDE8B	DLAT	UBE4B	SNCAIP	NHLRC2	CDC42	PGAP2	HUWE1	RNF125	APP	FAR1	MINPP1	DPAGT1	UBTF	NSD1	TANC2	BCAP31	AP3D1	NDUFV1	IQSEC1	ATXN1	SC5D	TBL1XR1	DDX6	MED12L	SETD2	MADD	MBD5	SLC5A6	EPM2A	PALS1	NANS	ST3GAL5	CUX1	KIRREL3	POLR3B	MBOAT7	TCF4	MMP23B	GUSB	AGA	GTF2H5	MGAT2	KIF5A	CRBN	TTC5	EPB41L1	BSCL2	DAO	PCYT2	GRIN2A	OCLN	ACD	TBL2	MUC1	SORL1	ACER3	CIZ1	ADPRS	TRAF7	SAMHD1	QARS1	ATXN8OS	WWOX	ADNP	TNIK	MVK	ACO2	PI4KA	PLP1	SPECC1L	FBXL4	OPHN1	NFIX	GPHN	CCDC47	TMEM270	EXOC8	SCO1	HECW2	CPA6	GLT8D1	UFSP2	ZBTB20	STX1A	NDST1	COASY	GRIN2B	NRROS	RAB23	CLP1	POLG2	CASZ1	AARS2	COLGALT1	USP9X	LMNB1	SHH	SYNE1	LMBRD2	HIC1	SLC9A6	USH1C	COX8A	GTF2IRD2	CIB2	NDUFA11	ADH1C	UBA1	KIF1C	GFM2	YME1L1	CYB5R3	FGF12	NPC1	KMT2D	LUZP1	SLC2A1	GUF1	IKBKG	VPS35	DOCK8	MAP2K2	CTNS	ZC4H2	PIGA	STX1B	DNAJC5	ASPA	CARS1	SKI	IDS	PIGP	KANK1	NEMF	MT-TQ	AP1G1	PDZD7	DNAJC19	NARS2	JARID2
HP_ATROPHY_DEGENERATION_AFFECTING_THE_CEREBRUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATROPHY_DEGENERATION_AFFECTING_THE_CEREBRUM	NDE1	NTNG2	DCPS	RTEL1	CACNA1I	NCDN	RTTN	TBCK	STUB1	EXOSC3	TAF2	SUMF1	L2HGDH	SNRPN	PLA2G6	VCP	MED27	EIF4H	CYP27A1	ERCC3	EXOSC5	MORC2	SUCLA2	TTC26	ERCC2	FH	CTSD	DSE	TECPR2	POLR3A	HTT	ERBB4	MT-ATP6	MYT1L	TBCD	CASK	MT-CO1	SPG7	BICD2	COG2	MT-ND1	EMC10	DOCK7	SHPK	ADK	PCLO	MARS2	TERT	GLYCTK	RNU7-1	SMC3	CC2D1A	ARV1	PTPN23	TRIP12	TIMM50	MTR	PSEN1	SNX14	NAA10	SIX3	PUS3	COQ9	ERCC1	WIPI2	FMN2	DNMT1	ATP1A2	ALG3	SLC33A1	MT-TF	GALC	TOMM40	FRRS1L	IBA57	HRAS	AP4E1	CPLX1	SERPINI1	FBXW11	WDFY3	CACNA1B	PPP2R2B	ITPA	MMACHC	MTRR	RNASEH2B	TRAPPC11	GJC2	MAPT	TCF20	CHAMP1	RMND1	SPG21	FUCA1	UBA5	DEAF1	SLC39A14	MAGEL2	KCNA1	SCYL2	NAXD	TARS1	POLA1	REPS1	PTCD3	GABRA5	GLB1	RAB3GAP2	GBA2	TUSC3	GABRD	BCORL1	RLIM	MT-TL1	METTL27	ALDH18A1	GABRB2	PIGN	STAMBP	NSUN2	NKX6-2	GRN	DYRK1A	FADD	DCDC2	OCA2	FASTKD2	DYNC1I2	SCN1A	KDM6A	RAD21	AUH	TMX2	VPS4A	ELN	RAB3GAP1	SLC1A2	FMR1	PDHX	LIPT2	MAN2B1	VARS1	KCNA2	DHX30	NGLY1	FARSB	NODAL	AARS1	NUP214	KMT2E	CHMP2B	TUBGCP6	PPP3CA	ACY1	FKBP6	CLPB	NDN	LSM11	BRD4	TBK1	PCCB	RAB18	PIGL	HPDL	GBA	CDK19	DGUOK	SET	SPATA5	ACTL6B	ROGDI	ERCC6	HCN1	GOT2	BUD23	WFS1	DNM1	DNAJC30	MBTPS2	SCN9A	TCF7L2	RNU4ATAC	PNKP	PUS7	FLI1	VPS13A	SETD1B	SYNCRIP	SCN1B	VPS37D	IARS2	RARS1	AGO2	UCHL1	ST3GAL3	EMC1	B4GALNT1	OSGEP	PIGT	COL18A1	PDHA1	RAB11A	GON7	PIGU	CDH23	CNKSR2	MED23	PARS2	PGAP1	SPTBN1	NECAP1	CLTC	AP4M1	YWHAE	PDE6D	ALG14	GNAO1	CLCN4	COG4	KAT8	SETD1A	RNF216	RPS6KA3	COX4I1	FARS2	STAG1	FKRP	YRDC	UFM1	MT-ND6	YIF1B	HDAC8	BCAS3	TRIT1	NOVA2	ABCA7	KDM4B	KCTD7	KIF1A	PIGG	AIFM1	TRAK1	POLG	CNTNAP1	OSTM1	PSAP	TBP	MMADHC	ACTG1	NAGA	MT-TW	NUP62	ZMIZ1	TRAPPC9	GM2A	FGF13	PEX7	TBC1D24	PRKCZ	SUCLG1	WARS2	CTDP1	UGP2	PCK1	CDKL5	GABRA2	PHACTR1	LRRK2	TNRC6B	FTL	DNAJC13	FOXP2	EXOC7	ATP1A3	ADGRV1	NDUFA9	TPP1	AP3B2	BRAF	TMEM70	CHCHD10	XPA	RALGAPA1	SLC1A4	PLK4	KCNAB2	ERCC8	GRIN1	SPTAN1	PITRM1	PIGQ	CIC	COG1	NBEA	PIGS	FDXR	ACTL6A	ARX	MT-CO3	TK2	HERC1	SETBP1	PDPN	TP53RK	MYO7A	SCN2A	ATXN2	LINS1	SQSTM1	ERCC4	TMEM106B	LONP1	HIVEP2	UBE4A	TTC19	EZR	XPC	GRIA4	HS2ST1	ANKRD17	NALCN	APC2	TGFB1	RSRC1	EXOSC1	SRCAP	HSPG2	DPYD	GAD1	POGZ	SYNGAP1	SATB1	MED17	NIPBL	DDB2	SPEN	MAP2K1	CELF2	VPS16	WHRN	UBE3A	HSD17B10	KCNT1	GRM7	NMNAT1	MT-TS2	GMPPB	MYO5A	CTSF	CLN8	MPLKIP	MPDU1	STXBP1	HEPACAM	ALG13	BAZ1B	GABRG2	SLC12A2	LHX1	EPRS1	HTRA2	UQCRC1	TCTN3	MT-ND5	HTRA1	PLAA	ATP13A2	SLC45A1	KRAS	B3GALNT2	SVBP	POMT2	KDM5B	PARN	DKC1	GRIK2	TRAPPC12	PRUNE1	KCNQ5	UNC80	CRADD	PSPH	HACE1	WDR45	NUTM2B-AS1	ALKBH8	SPG11	SLC35A2	ATN1	WASF1	TANGO2	MOCS2	SLC35C1	ADSL	PEX16	TINF2	USH1G	NDUFA8	SLC25A15	ALG11	MAN1B1	ESPN	BRSK2	B3GLCT	DHDDS	NDUFAF5	PCDH15	TAOK1	SLC25A22	ATP6AP2	CLIP2	MOCS1	CYB5A	CLN6	GTF2IRD1	TRAPPC6B	TREM2	VPS13C	COG7	NDUFA2	DALRD3	CWC27	SACS	SLC12A5	OPA1	FGFR1	TRMT1	TSEN54	POLR3K	DPM1	DNM1L	FRMPD4	AP4B1	KIDINS220	EMX2	CDH15	GTF2I	ACTB	NCF1	TIMM8A	ZNHIT3	DOCK3	SCN3A	MAPK8IP3	DOCK6	NEK1	PYCR2	PEX19	NTRK2	SZT2	ALG1	SYT2	LIAS	MT-TH	CACNG2	GTF2E2	COG5	ATG7	NADK2	PAFAH1B1	TSEN15	DPYSL5	NACC1	YWHAG	LARGE1	C12orf4	GLE1	GNAQ	TUBGCP4	CAMK2B	RHOBTB2	EIF2AK2	AIMP2	ZNF335	KCNMA1	ZMYND11	IRF2BPL	DARS2	WDR73	BCL7B	SMG9	CACNA1A	TRAPPC2L	TRPM3	KCNB1	AP4S1	DLL1	NDP	TRNT1	ASH1L	LYRM7	SYNJ1	BPTF	HNMT	SLC17A5	GPKOW	MED25	BTD	MT-CO2	PIGV	PRDM16	VPS53	FBLN1	HNF1B	LMAN2L	USH2A	POMT1	PRNP	ATXN7	GRIN2D	CCDC32	AMPD2	SMC1A	CAMTA1	EPG5	TDP1	DMPK	PRKAR1B	SNCA	DHFR	RERE	CISD2	CLIP1	PRICKLE2	EHMT1	TRRAP	SCN8A	CLN3	TWNK	EEF1A2	RFC2	WASHC4	MECP2	CAMK2A	UBR7	PRDX1	CARS2	BICRA	GCDH	SLC39A4	PPT1	TMCO1	BMP4	ERCC5	TOE1	MAG	NAA20	ATP8A2	MEF2C	TECR	FBXO31	MFSD8	SIK1	EXOSC8	TBC1D20	DYNC1H1	PANK2	ATRX	ADARB1	APOE	DMXL2	SLC2A3	PRSS12	CYFIP2	PMPCA	VPS41	LAGE3	GIGYF2	MAF	PCCA	SLC13A5	ATAD1	GRIA2	COG6	METTL23	EIF4G1	RNF2	PRKN	EDC3	NTNG1	EXOSC9	CSNK2B	NEXMIF	CNOT3	DNAJC3	AIMP1	MT-ND4	OTUD6B	BCS1L	AP1S2	RFT1	PQBP1	CACNA1E	MLXIPL	MRM2	MOGS	PSEN2	TMEM67	ABCD4	NEUROD2	TRIM8	ALG8	FA2H	PIGC	SEPSECS	RNASEH2A	ZC3H14	KCNQ2	TSEN2	PSMD12	MED13	RARS2	TYROBP	GDAP2	LIMK1	ATP6V1A	SLC39A8	CLCN3	HSD17B4	SARS1	C9orf72	NUS1	JPH3	UBE4B	CDC42	PGAP2	HUWE1	RNF125	APP	FAR1	MINPP1	DPAGT1	UBTF	NSD1	TANC2	BCAP31	AP3D1	IQSEC1	SC5D	DDX6	MED12L	SETD2	MADD	MBD5	SLC5A6	PALS1	NANS	CUX1	KIRREL3	POLR3B	MBOAT7	TCF4	MMP23B	AGA	GTF2H5	CRBN	TTC5	EPB41L1	BSCL2	PCYT2	GRIN2A	OCLN	ACD	KIF7	TBL2	MUC1	SORL1	ACER3	CIZ1	ADPRS	TRAF7	QARS1	WWOX	ADNP	TNIK	MVK	ACO2	SPECC1L	FBXL4	OPHN1	NFIX	GPHN	CCDC47	TMEM270	CLN5	HECW2	CPA6	UFSP2	STX1A	NDST1	GRIN2B	NRROS	RAB23	ADAR	RNF113A	CLP1	POLG2	CASZ1	COLGALT1	LMNB1	SHH	LMBRD2	HIC1	SLC9A6	USH1C	GTF2IRD2	CIB2	KIF1C	GFM2	CYB5R3	FGF12	KMT2D	LUZP1	SLC2A1	GUF1	IKBKG	VPS35	DOCK8	PUF60	MAP2K2	ALS2	CTNS	ZC4H2	PIGA	STX1B	TREX1	CARS1	SKI	IFIH1	ALG9	PIGP	KANK1	TRAPPC4	NEMF	MT-TQ	AP1G1	PDZD7	JARID2
HP_CORPUS_CALLOSUM_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORPUS_CALLOSUM_ATROPHY	HSD17B4	OPA1	POLR3K	VPS41	STUB1	EMC1	MAG	AIMP1	DNM1L	FA2H	BCAP31	GFM2	ALDH18A1	ATP8A2	IRF2BPL	L2HGDH	MAN2B1	LMNB1	GBA2	FAR1	CLN5	PEX16	CACNA1E	NDUFA8
HP_ATROPHY_DEGENERATION_INVOLVING_THE_CORTICOSPINAL_TRACTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATROPHY_DEGENERATION_INVOLVING_THE_CORTICOSPINAL_TRACTS	SLC33A1	TBK1	MLXIPL	GTF2IRD2	FKBP6	ABCD1	SQSTM1	STX1A	CPT1C	NEFH	VPS37D	PLP1	PRPH	BAZ1B	DCTN1	WASHC5	TARDBP	ELN	ATL1	FUS	RTN2	KPNA3	BCL7B	SPG7	TMEM270	GTF2I	NCF1	METTL27	MT-ATP6	TBL2	CLIP2	SPG11	CHCHD10	RFC2	BUD23	C9orf72	NIPA1	GTF2IRD1	LIMK1	EIF4H	DNAJC30	SOD1	SPAST	UBAP1	VCP
HP_MOTOR_NEURON_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOTOR_NEURON_ATROPHY	CFAP410	PFN1	TRPM7	FIG4	PPARGC1A	CHCHD10	FUS	MAPT	TARDBP	SPG11	ALS2	PRPH	SPTLC1	SIGMAR1	UBA1	SETX	VCP	DCTN1	MATR3	TAF15	CYLD	ANG	TREM2	C9orf72	PON1	SOD1	TFG	CEP126	ATXN2	OPTN	NEFH	TBK1	ANXA11	SQSTM1	VRK1	CCNF	CPLANE1	PSEN1	UBQLN2	GLT8D1	EPHA4	SMN1	PON3	HNRNPA2B1	KIF5A	IGHMBP2	CHMP2B	GLE1	DAO	UNC13A	ERBB4	VAPB	TUBA4A	RBM28	HNRNPA1	TIA1	ASAH1	NEK1	PON2	ATXN3	SMN2
HP_ATROPHY_DEGENERATION_INVOLVING_THE_CAUDATE_NUCLEUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATROPHY_DEGENERATION_INVOLVING_THE_CAUDATE_NUCLEUS	SLC2A3	VPS13A	TIMM8A	TYROBP	FTL	HTT	FOXP2	JPH3	BSCL2	TREM2	OPHN1	MT-ATP6	ADAR	NDUFAF5	NUP62
HP_ABNORMALITY_OF_THE_SEPTUM_PELLUCIDUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_SEPTUM_PELLUCIDUM	APC2	ARNT2	RSRC1	DCPS	TNIK	DYNC1I2	LHX4	CPLX1	FGFRL1	B3GALNT2	NCDN	FGFR1	SOX2	HYLS1	HCCS	SMG8	CLIP1	EHMT1	MED25	COX7B	SPECC1L	PIGC	RSPO2	KIAA0586	CDON	ZC3H14	CTBP1	WASHC4	PIEZO2	DAG1	PGAP1	PPP2R5D	TDGF1	RXYLT1	SIX3	PROP1	TRAPPC9	FKRP	GAS1	SARS1	UFSP2	ALG12	PTCH1	PAFAH1B1	NDST1	NSD1	FANCI	POU1F1	NAA20	NDUFB11	CSGALNACT1	POMGNT1	PACS1	TECR	FBXO31	SLC12A2	FOXA2	LARGE1	KRAS	FGFR2	HESX1	RNF125	IDH1	KIF7	POMK	MBTPS2	C12orf4	CC2D1A	POMT1	IQSEC1	SLC45A1	PRSS12	DISP1	GLI2	FKTN	PCGF2	DLL1	KDM5B	GRIK2	FMN2	SETD2	CRADD	CRPPA	TUBB2B	FRRS1L	LETM1	L1CAM	BANF1	METTL23	PTDSS1	ST3GAL3	ALKBH8	NODAL	B4GAT1	STIL	DHCR24	COL4A1	AIMP1	MBOAT7	GPR161	SSR4	OTX2	SOX3	HNMT	LRRC32	EDC3	POMT2	PROKR2	PIK3CA	MED23	POMGNT2	NKX2-1	EZH2	SHH	MAN1B1	PIGA	FOXH1	CRBN	GRM7	ZIC2	TTC5	CSPP1	TAF1	LINS1	TUSC3	PPP1R21	LMAN2L	MUSK	WDR11	FGF8	MAPK1	NSD2	PPP1R12A	TGIF1	UBE4A	NSUN2	STAG2	EZR	NEMF	RBM8A	WNT3	AP1G1	ROBO1
HP_ABNORMAL_CHOROID_PLEXUS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CHOROID_PLEXUS_MORPHOLOGY	ZSWIM6	PHGDH	GNAS	SMARCB1	SETBP1	MDM2	NRAS	FH	CTSC	FOXF1	EXOC8	NPHP3	TP53	CHEK2	IFT43	CDKN2A
HP_ABNORMALITY_OF_SOMATOSENSORY_EVOKED_POTENTIALS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SOMATOSENSORY_EVOKED_POTENTIALS	NHLRC1	MORC2	PRPS1	ABCD1	ATXN1	TIMM8A	MARCHF6	LMNB1	TBC1D24	SAMD12	PLP1	SEMA6B	YEATS2	CYP27A1	STARD7	GJC2	EPM2A
HP_NEOPLASM_OF_THE_GASTROINTESTINAL_TRACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_GASTROINTESTINAL_TRACT	TNPO3	FASLG	KLF11	YY1	KIT	CDKN2B	GATA1	SKIV2L	CASP8	SDHC	CDKN1C	GPC3	FAH	HBB	CDK4	SPRTN	KCNQ1OT1	PTPN3	RAD51D	NBN	SDHD	MLH1	TCF4	CDKN1A	RPL18	DZIP1L	AXIN1	GPC4	MET	AKT1	MLH3	BUB1	ATRX	BAP1	MSH6	MCC	MSH3	MEN1	SMARCA4	IL12A	PYGL	CASP10	PHKB	PTEN	MSR1	DIS3L2	POGLUT1	PTCH2	CCND1	PHKG2	BUB1B	SH3KBP1	POLE	BRCA2	TRIM28	IL12RB1	SMARCB1	MSH2	APC	NEUROD1	WT1	RPS20	CHEK2	NRTN	PMS2	RPL27	ARID1A	AXIN2	ACVRL1	RPL35A	DCC	RPS10	RPS26	TTC37	SOX11	EPCAM	STAT1	BLK	ARID1B	RPS15A	ENG	PDX1	JAG1	PRKAR1A	GDNF	ATP7B	SDHB	TERF2IP	MDM2	ACD	TP53	MUTYH	CEP57	USF3	POU2AF1	PKHD1	RELA	GREM1	RPL15	REST	POLD1	GNAS	H19	BAX	JAK2	COL4A6	TGFBR2	RNF6	RABL3	BRAF	IGF2R	SMO	COL14A1	KRAS	SLC25A13	POT1	MS4A1	CR2	IRF5	MINPP1	SPIB	HFE	SMARCD1	POU6F2	ICOS	RPS19	PIK3CA	BLM	KLLN	AAGAB	ABCB11	TRIP13	HMBS	EP300	MYH11	ABCB4	BARD1	STAT6	BRCA1	BMPR1A	BMP2	RPGRIP1L	FAS	RPS24	ARSA	ZFTA	ERBB3	INS	PTCH1	ADA2	FOXE1	KCNJ11	FAN1	UROD	SMAD4	SDHA	CDKN2A	PSAP	DLK1	DAXX	PRKCD	ABCD1	CDKN1B	CEL	PPOX	SUFU	STK11	TLR2	ARID2	WWOX	MTOR	ABCC8	CD19	FH	G6PC1	SERPINA1	IGF2	HNF4A	TNFRSF13B	PAX4	CC2D2A	POFUT1	MMEL1	RPS17	RPS7	CTNNB1	DICER1	RPS28	INPP5E	RPL35	WRN	RPL5	RHBDF2	TNFSF12	FLCN	PSENEN	RPS27	KLF6	AURKA	EDN3	PALB2	RAD51	SOX4	SLC37A4	DOCK8	NFKB1	TJP2	SMARCC2	PDGFRA	SEMA4A	IL1B	HNF1A	ECE1	MRE11	NF1	SETBP1	PALLD	PHKA2	DLC1	SMARCE1	SPRED1	APPL1	ERBB2	SRC	DLEC1	NAB2	BUB3	GIMAP5	SEMA3D	RTL1	NRAS	SEC23B	CPOX	IL1RN	RNF43	RAD51C	SMPD1	KEAP1	NFKB2	RASGRP1	SEMA4D	DPF2	HABP2	ATP7A	BRIP1	PTPRJ	FGFR2	CTHRC1	PMS1	GCK	GDF2	AHCY	RAD21	MEG3	PLA2G2A	COL4A5	RPL11	RET	CD81	EDNRB	RPL26	IRF1	PDGFRL	PIEZO2	PTPN12	GPR35	TNFRSF13C	SMAD7	SLC2A2	NTHL1	MST1	BCL10	LMNA	RAD54B	MGMT	TNFSF15	KCNQ1	RPL31	ASCC1	SREBF1	TREX1	MITF	RAD50	RPS29	F5	CDH1	TSR2	SEMA3C	CDKN2C	KRT5	FGFR3	MC1R	TMEM67	TERT	LZTS1
HP_NEOPLASM_OF_THE_GENITOURINARY_TRACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_GENITOURINARY_TRACT	NF1	WNT10A	SUFU	ZFHX3	STK11	AR	TFE3	SRY	TLR2	GATA1	AKT1	KANSL1	CDKN1B	TXNRD2	POLE	CDKN1C	BRCA2	GPC3	FH	MET	MNX1	SLC6A17	SOX9	SLC25A11	KCNQ1OT1	EXT2	PDE8B	RNF139	IGF2	RAD51D	TSC2	CDH1	STAR	WT1	H19	NBN	MSH6	HDAC4	DHH	APC	RPL18	RPS17	RPS7	KLLN	PBRM1	GPC4	FGFR3	DICER1	RPS28	MLH3	BUB1	FIBP	TSC1	MCC	RPL35	DLST	HNF1B	MLH1	PTEN	BRCA1	WRN	RB1	EPHB2	RPL5	DIS3L2	FLCN	VHL	PHF21A	PRKN	BMPR1A	PTCH2	RPS27	MAD1L1	NSD1	CCND1	AURKA	CHEK2	FGFR2	PALB2	BUB1B	RAD51	SDHD	TRIM28	EWSR1	CTNNB1	DOCK8	MSH2	SETD2	RPS20	SMAD4	SDHC	AXIN2	NNT	PMS2	RPL27	PIK3CA	HRAS	SEMA4A	RPL35A	PAX6	RPS10	TP53	RNASEL	MRE11	MDH2	RPS26	SDHB	PRKACA	SETBP1	OGG1	PALLD	EPCAM	DLC1	ARMC5	OPCML	KIF1B	SPRED1	RPS15A	PRKAR1A	POU6F2	FLI1	IFNG	SRC	GNAS	NAB2	MDM2	BUB3	ALX4	CREBBP	NTHL1	CEP57	MSH3	TRIM37	STS	USF3	ATP7A	RELA	GREM1	NRAS	APC2	SEC23B	CDC73	ERBB2	RPL15	RET	B3GALT6	ASXL1	STAG3	VAMP7	KIT	RNF43	MAP3K1	RAD51C	KRAS	ZFPM2	NR0B1	REST	POLD1	KEAP1	BAX	GATA4	FERMT1	SDHAF2	COL4A6	TGFBR2	RABL3	BRAF	MXI1	HABP2	IDH1	NR5A1	BRIP1	COL14A1	PTPRJ	PMS1	CDKN2A	MINPP1	LMNA	PLA2G2A	COL4A5	RPL11	DCC	BLM	WWOX	AAGAB	TRIP13	MRAP	RPL26	EP300	PRCC	PDGFRL	BARD1	STAT6	PDE11A	RPS24	DMRT3	ZFTA	TBX18	PTPN12	NOD2	FN1	BCL10	PTCH1	ADA2	FOXE1	RPS19	MAX	RAD54B	CYP11B1	BAP1	KCNQ1	FAN1	BMPER	RPL31	CXCR4	DHX37	RAD50	SDHA	RPS29	IDH2	TSR2	TMEM127	MC2R	HNF1A	MVK	KLF6
HP_FACIAL_TELANGIECTASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_TELANGIECTASIA	WNT10A	SLC29A3	ARX	SOX18	SDHD	ATRX	POLE	SLC2A10	BLM	VPS53	DAXX	GNPTAB
HP_CONGENITAL_LOCALIZED_ABSENCE_OF_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_LOCALIZED_ABSENCE_OF_SKIN	LAMC2	BMS1	COL7A1	ITGB4	PLEC	LAMA3	LAMB3	DLL4
HP_APLASIA_CUTIS_CONGENITA_OF_SCALP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_CUTIS_CONGENITA_OF_SCALP	PIGG	MSX2	ALX4	PLEC	LETM1	CPLX1	FGFRL1	ITGB4	ARHGAP31	UBR1	BMS1	MCTP2	NSD2	DLL4	ALG9	CTBP1	NELFA
HP_EXCESSIVE_WRINKLED_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXCESSIVE_WRINKLED_SKIN	ABCC6	RTEL1	TBL1XR1	TGM5	PLOD1	PTPN11	PARN	PTEN	DKC1	RAF1	TWIST2	LZTR1	CSTA	ZNF469	ATP6V0A2	PYCR1	COL3A1	ACD	SMARCA2	ATP6V1A	C1R	BRAF	FGFR3	ENPP1	ATP6V1E1	MAP2K1	KRAS	FGFR2	ADAMTSL2	ADAMTS2	RIT1	PIK3R1	MRAS	MAP2K2	TERT	COG7	CFTR	TINF2
HP_PROMINENT_SUPERFICIAL_BLOOD_VESSELS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_SUPERFICIAL_BLOOD_VESSELS	FLT4	CAVIN1	SLC25A24	PPARG	BSCL2	FOS	PYCR1	ZMPSTE24	LMNA	ATP6V0A2	GPR35	ANTXR1	LEMD2	ATP6V1A	AGPAT2	ATP6V1E1	COG4	PTDSS1	BANF1	RASA1	MST1	SEMA4D	ALDH18A1	PPP1R15B	AEBP1	TCF4	POLR3A	IPO8	SLC39A13	CAV1
HP_IRREGULAR_HYPERPIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRREGULAR_HYPERPIGMENTATION	RERE	KDM6B	KRT5	RAF1	SETBP1	TERC	CTLA4	DKC1	NTNG2	STK11	ZMIZ1	TRMT1	CDKN2B	SKIV2L	RAD51	BRAF	POLA1	MTOR	NRAS	KANSL1	KRAS	TINF2	KDM4B	FANCC	LBR	PSMD12	MED13	PDE8B	DOCK3	MAX	SMARCAL1	NF1	TERT	TSC2	SPRED1	MED27	MLH1	CLCN3	TWIST2	IGF2	POFUT1	CDKN1A	FANCF	TMC8	ERCC4	SLX4	FANCD2	KMT2D	MAN1B1	MMP2	TOP3A	ZMPSTE24	NF2	CYBB	BRIP1	FANCI	CD28	IL7	STEAP3	LZTR1	CTC1	NCF2	PTEN	PLEC	TSC1	ACTL6B	NOTCH3	TNRC6B	ESCO2	BRCA2	SALL4	EMC10	FANCG	FANCL	LMNA	PSENEN	DPYSL5	POGLUT1	KDSR	FANCE	FANCA	CDKN1C	CARD14	TANC2	TP63	ERCC1	PLAG1	ATP2A2	PTPN23	KDM5C	TRIP12	SDHD	VHL	PTPN11	FGFR3	XPA	PDGFRB	DDX6	CRIPT	BCAS3	SRD5A3	PALB2	CASR	FGFR1	SHOC2	NPM1	MADD	MAPK8IP3	SDHC	BUB1B	KCNMA1	MAD2L2	CBL	PALS1	TNFRSF1B	GJB3	PDGFRA	SDHB	COPB1	ST3GAL5	MSH2	KDM6A	FBXW11	WDFY3	ACTL6A	BPTF	GPNMB	RTEL1	TCF20	PRKACA	COL7A1	TTC37	GNA11	MED12	GNB2	PRKAR1A	NDUFB11	UBR1	IFNG	TMEM127	BCORL1	RLIM	PORCN	BUB3	AKT1	MAPK1	CREBBP	C1S	NHP2	CEP57	TMC6	FANCB	CCDC32	PARN	NCF4	XPC	ARL6IP6	MAFB	MYT1L	CHN1	ANAPC1	USF3	KRT14	HS2ST1	ANKRD17	COL3A1	HRAS	FANCM	SEC23B	GNAS	SRCAP	MEN1	NCF1	CYBA	INSR	SATB1	DDB2	PIK3CA	USB1	MAP2K1	MAP2K2	PMS2	APC	SLC12A2	ERCC8	DNASE1L3	ACP5	RET	HTT	UBR7	KMT2E	RBBP8	TNFRSF1A	ACTB	SMARCAD1	SOX10	GRIA4	MAPRE2	KIT	HMGA2	HPDL	ERCC5	CDKN1B	ATM	HGD	BLM	KLLN	REV3L	LMBRD2	RAD51C	MSH6	IL6	SIN3A	TCF7L2	PCNT	CLTRN	PHIP	GJA1	PUS7	ABCD1	PDE11A	SVBP	SYNCRIP	SEC23A	NOP10	UBE2T	NBN	PPP1CB	FERMT1	GJB4	AGO2	KITLG	ERCC3	BANF1	LYST	IKBKG	ABCB6	BUB1	RNF2	WASF1	ZFHX4	DSTYK	NTNG1	CIB1	SDHA	TUBB	TRIP13	EP300	SPTBN1	SPINK5	KIF1B	CNOT3	ERCC6	RFWD3	WRAP53	HUWE1	COL25A1	XRCC2	WBP11	PLXND1	ERCC2	CDKN2C	KAT8	SETD1A	SH3PXD2B	TRAPPC4	CYBC1	GNAQ	BRCA1	IGF1	CWC27	C1R	JARID2	SLC6A19
HP_MACULAR_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_ATROPHY	RP9	IFT140	PRPH2	CFI	MAPKAPK3	C1QTNF5	LZTFL1	TNFRSF11B	PLK4	CFAP418	ATF6	YARS1	HLA-A	GUCA1A	CFH	ARL2BP	RHO	DHX38	NRL	HK1	MERTK	RIMS1	PRPF31	SIX6	WDR19	RAX2	RDH5	RLBP1	SH3BP2	DRAM2	KCNV2	NMNAT1	ELOVL4	PCYT1A	GBA	SLC6A6	RS1	GUCY2D	EFEMP1	AIPL1
HP_PALMOPLANTAR_HYPERHIDROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALMOPLANTAR_HYPERHIDROSIS	KRT17	PLAA	SERPINB7	RSPO1	MBTPS2	KRT16	KRT6A	TRPV3	CTSB	CFTR	WNT10A	PERP	KRT6B
HP_DISCOID_LUPUS_RASH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISCOID_LUPUS_RASH	CYBA	SPP1	NCF2	NCF1	IRAK1	LEMD3	STAT4	CYBB
HP_ALOPECIA_TOTALIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALOPECIA_TOTALIS	RIPK4	RECQL4	DSP	ANAPC1	ZMPSTE24	UQCRFS1	LMNA	JUP	MBTPS2	NFKB2	FOXN1	GJB6
HP_SPONTANEOUS_HEMATOMAS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPONTANEOUS_HEMATOMAS	GP1BA	GP1BB	GDF2	ITGA2	COG8	ITGB3	ITGA2B	CD109	ENG	GP9	F5	F13A1	WAS	WIPF1	F8	PRKACG	ACVRL1	SMAD4	ATP7A	F13B	F10
HP_RETICULATED_SKIN_PIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETICULATED_SKIN_PIGMENTATION	KRT5	DKC1	KRT14	TERT	NHP2	TINF2
HP_GENERALIZED_EDEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_EDEMA	FSHR	TTC26	PHGDH	CALCRL	MOGS	TMEM260	NOS1AP	DEF6	FARSB	CFH	HELLPAR	PRF1	CD55	COQ2	PDSS2	PMM2	PIEZO1	PLVAP	DPAGT1	DOK7	UBR1	MYLK	CD46	CFI
HP_CONGENITAL_ICHTHYOSIFORM_ERYTHRODERMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_ICHTHYOSIFORM_ERYTHRODERMA	KRT10	ALOX12B	ALOXE3	TGM1	SPINK5	GJB2	LIPN	KRT1	PNPLA1	TARS1	ABCA12	CERS3	ERCC3	LORICRIN	ABHD5	ASPRV1	EBP	STS	GBA	CYP4F22	GTF2H5	ST14	NIPAL4	GJB6	NSDHL	POMP	KRT2	ERCC2
HP_GENERALIZED_HYPERPIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_HYPERPIGMENTATION	ALDH3A2	SLC40A1	HFE	CYP11A1	KCNH1	RTEL1	KRT14	GMPPA	PARN	DKC1	IRF4	POLA1	HJV	TXNRD2	INSR	AIP	ACD	PAX6	NNT	MAP2K1	KRAS	MC2R	HRAS	TRAPPC11	HAMP	ATP6V1B2	KRT5	MRAP	STAR	MAP2K2	PTEN	AAAS	AKT1	TERT	MYO5A	KCNN3	BRAF	TINF2	GPR101
HP_PARTIAL_ALBINISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARTIAL_ALBINISM	KIT	SNAI2	MYO5A	MITF	LAMTOR2	PAX3	MLPH	TYRP1	RAB27A
HP_PALMOPLANTAR_BLISTERING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALMOPLANTAR_BLISTERING	KRT17	PLEC	KRT14	COL7A1	KRT5	KRT1	DSG1	ITGB4	KRT16	KRT6A	KRT6B
HP_DIFFUSE_PALMOPLANTAR_HYPERKERATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFUSE_PALMOPLANTAR_HYPERKERATOSIS	KRT16	KRT9	SLURP1	KRT1	SNAP29	SERPINA12	RHBDF2	KLHL24	AQP5
HP_CONFETTI_LIKE_HYPOPIGMENTED_MACULES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONFETTI_LIKE_HYPOPIGMENTED_MACULES	CDKN2B	NONO	CDKN1B	CDKN2C	CDKN1A	MEN1	TSC1	TSC2
HP_PROMINENT_VEINS_ON_TRUNK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_VEINS_ON_TRUNK	ATP6V1E1	ATP6V0A2	AEBP1	PPARG	ATP6V1A
HP_HEMANGIOMATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMANGIOMATOSIS	KRAS	EIF2AK4	FGFR1	GDF2	PTEN	PTH1R	IDH2	PIK3CA	ENG	RASA1	VHL	TEK	FGFR2	GNAQ	IDH1	SLC26A2	ACVRL1	AKT1	SMAD4	CCND1
HP_ABNORMAL_DERMATOGLYPHICS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DERMATOGLYPHICS	FGF9	APC	MLXIPL	RPL10	HDAC8	KRT14	RAD21	KDM4B	RB1	TRIM8	RIPK4	BRAF	SMARCAD1	RRAS	ESCO2	CKAP2L	AIP	MCTP2	RIT1	FIG4	SMOC1	GTF2I	PEX12	NCF1	CTCF	RAF1	CTBP1	ROR2	RAB11B	LIMK1	YY1	DOCK6	RPS23	EIF4H	HDAC4	FGFR2	VPS33A	TFAP2A	NUP188	VAC14	KAT6B	PUF60	TCF12	FGD1	XYLT1	RBM10	LIFR	VPS51	RAPSN	CCDC32	COL17A1	TWIST1	SALL4	DLX4	PTPRF	NALCN	SLC39A13	LMX1B	CHD7	PEX14	NECTIN1	NEXMIF	PEX5	DPAGT1	CCBE1	ADAMTSL1	SMC3	TBX4	SEMA3E	GLE1	SLC25A24	BHLHA9	EHMT1	PNPLA6	WAC	KATNB1	DHODH	PACS1	DIS3L2	TBL1XR1	B4GALT7	SHOC2	MRAS	TSEN34	GDF5	BCL7B	TSEN15	NUP107	PEX6	PAX1	SMS	SEPSECS	PEX19	PIGS	EYA1	SPTBN1	HRAS	DSE	PEX1	TCF4	SOS1	KCNN3	UBR7	BMPR1B	IFT43	NIPBL	TASP1	EXT1	GPKOW	MED25	STXBP1	AUTS2	TELO2	MYH3	GNB2	NAA10	TSEN54	PEX2	UBR1	ARID1B	MTOR	NXN	NRAS	SOS2	GATA1	RAB3GAP1	LONP1	METTL27	RNU4ATAC	TBL2	ITCH	NSD2	CREBBP	BRF1	BCOR	RAB3GAP2	IFT57	RPS6KA3	TRIM37	PEX11B	MAP1B	SMC1A	ERGIC1	PKDCC	RTL1	RASA2	KCNK9	AFF3	ADNP	TPM2	DHCR7	NOG	CPLX1	FGFRL1	KDM6A	PLAA	COX14	TNNI2	EXTL3	G6PC3	TP63	ELN	DPYD	ASXL1	STAG1	VPS13B	MAP2K1	TMEM270	PPP2CA	ANKRD11	RFC2	PEX13	TSEN2	KRAS	SPECC1L	ATP6V0A2	SMARCA2	HNRNPK	OFD1	UBE3B	CHST3	PRR12	FKBP6	SPRED2	DOK7	BRD4	STX1A	SMPD4	BMP4	PIGL	CDK19	ATR	ASXL2	FGFR3	BAZ1B	OTUD5	CSGALNACT1	MEG3	FOXP1	PEX16	CHST14	TGDS	ARL3	RRAS2	BUD23	WDR37	SLC18A3	NBAS	CDK10	MSL3	DNAJC30	SIN3A	LZTR1	GPR101	NGLY1	IFT122	CD96	GTF2IRD2	KCNH1	MTX2	PLOD3	VPS37D	DPH1	PEX26	LETM1	DLK1	KMT2D	MED12	NUP88	ZNF292	ASXL3	PDHA1	MAP2K2	PEX10	ZNF462	PEPD	FLNA	HOXA13	ZMYM2	PIEZO2	EP300	SETBP1	MAP3K7	MUSK	THOC2	B3GLCT	DDX11	CLIP2	CEP57	CBL	TRPS1	GTF2IRD1	ATP6V1B2	RIN2	CEP55	PORCN	IGF1	TNNT3	MYOD1	LRP4	PEX3	PTPN11
HP_CONGENITAL_NONBULLOUS_ICHTHYOSIFORM_ERYTHRODERMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_NONBULLOUS_ICHTHYOSIFORM_ERYTHRODERMA	ALOX12B	ALOXE3	ABHD5	ASPRV1	GBA	CYP4F22	TGM1	SPINK5	GTF2H5	NIPAL4	POMP	TARS1	ERCC2	ERCC3	LORICRIN
HP_ABSENCE_OF_SUBCUTANEOUS_FAT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENCE_OF_SUBCUTANEOUS_FAT	MPLKIP	GTF2E2	ERCC2	GTF2H5	CAV1	TARS1	ZMPSTE24	LMNA	ERCC4	KCNJ6	POLR3A	ERCC3	FBN1	RNF113A
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	KRT17	POMP	KRT16	KRT6A	KRT6B
HP_PREMATURELY_AGED_APPEARANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURELY_AGED_APPEARANCE	SNAI2	SOX10	ELN	TERC	MLXIPL	MYO5A	DKC1	RTEL1	ALDH18A1	PLOD1	ATR	STUB1	TWIST2	CSTA	ALG8	TINF2	KCNJ6	PARN	BRAF	FGFR3	ERCC3	GTF2I	NCF1	TERT	CHD2	CEP152	LIMK1	EIF4H	TOR1A	TFAP2A	PSMB8	PAX3	ANTXR1	TALDO1	AP2M1	MPLKIP	MITF	INSR	TGM5	RAB27A	ZMPSTE24	ZNF469	STN1	ERCC5	CYP27A1	LZTR1	CTC1	BRCC3	WRN	GTF2E2	GORAB	FGFR2	CDH11	LMNA	EDNRB	COL5A2	GHR	ZNF699	CENPE	ERCC1	SLC25A24	ABCC6	EDA	TBL1XR1	ERCC8	NPM1	ATP6V1A	MTX2	BCL7B	SYNGAP1	SLC2A1	RIT1	ERCC4	PTPN22	POLR3A	EDARADD	GTF2H5	GJB2	TARS1	RAF1	ACD	RAB3GAP1	FBLN5	METTL27	TBL2	LMNB2	ERCC2	RAB3GAP2	EDN3	NHP2	RBBP8	NEXMIF	FBN1	COL3A1	CENPJ	FAS	SMARCA2	NUP85	ENPP1	USB1	MAP2K1	TMEM270	SLC6A1	RFC2	RECQL4	ATP6V0A2	ATRIP	KITLG	COL1A1	FKBP6	STX1A	RNF113A	PTPN11	PIK3R1	BAZ1B	ATM	ERCC6	KRAS	ADAMTSL2	BUD23	PLK4	MRAS	DNAJC30	SLC2A10	DSTYK	PCNT	GTF2IRD2	TYR	NOP10	VPS37D	ATP6V1E1	MED12	BANF1	PTDSS1	ADAMTS2	COG5	SCN1A	MAP2K2	B4GALT7	CFTR	COL5A1	TRAIP	EDAR	NAA10	PTEN	WRAP53	PYCR1	MDM2	C1R	CLIP2	GTF2IRD1	MTAP	GJB6	COG7
HP_RECURRENT_STAPHYLOCOCCAL_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_STAPHYLOCOCCAL_INFECTIONS	CYBA	NCF2	CIITA	LYST	IRAK4	IL17RA	STAT3	NTRK1	RFX5	RFXAP	ITGB2	RFXANK	NCF1	PGM3	FCN3	CYBB
HP_FOLLICULAR_HYPERKERATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOLLICULAR_HYPERKERATOSIS	SLC27A4	NLRP1	DSC3	GJB2	KRT81	TRIP4	PLOD1	KRT83	TARS1	LRP1	KRT6A	COL6A1	KRT86	DSG4	KRT16	DDR2	KRT17	FKBP14	POFUT1	COL6A2	PSENEN	MBTPS2	GJB6	COL6A3	PKP1	KRT6B
HP_GENERALIZED_HYPOPIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_HYPOPIGMENTATION	HPS5	AP3D1	TYR	TTC37	BLOC1S3	DTNBP1	SLC45A2	MC1R	LEMD3	SLC24A5	SKIV2L	NDN	EPG5	HERC2	LRMDA	TP63	HPS1	SNRPN	BLOC1S5	AP3B1	MITF	CACNA1F	NPAP1	LYST	MAGEL2	OCRL	CTNNB1	SNORD116-1	PWRN1	TYRP1	EDNRB	OCA2	PWAR1	HPS4	MKRN3	PAH	KRT5	HPS6	SNORD115-1	ZPR1
HP_EDEMA_OF_THE_DORSUM_OF_HANDS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EDEMA_OF_THE_DORSUM_OF_HANDS	NEB	LMOD3	ZNHIT3	KLHL40	TGM1	ANGPT1	PLAA	KNG1	RBM8A	HS3ST6	RNF13	SERPING1	KLHL41	ACTA1
HP_PALMOPLANTAR_CUTIS_LAXA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALMOPLANTAR_CUTIS_LAXA	MRAS	LZTR1	ZNF469	FGFR2	RIT1	PLOD1	ATP6V0A2	C1R
HP_INCREASED_NUMBER_OF_SKIN_FOLDS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_NUMBER_OF_SKIN_FOLDS	ELN	TUBB	FBLN5	GGCX	ALDH18A1	MAPRE2
HP_SEVERE_PHOTOSENSITIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_PHOTOSENSITIVITY	NHLRC1	UROS	DHCR7	UROD	GATA1	EPM2A
HP_EPIDERMAL_HYPERKERATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIDERMAL_HYPERKERATOSIS	KRT16	LMNA	KRT9	BRAF	KRT1	SOX18	ZMPSTE24	GJA1
HP_ABNORMAL_SUBCUTANEOUS_FAT_TISSUE_DISTRIBUTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SUBCUTANEOUS_FAT_TISSUE_DISTRIBUTION	ATP6V1E1	PRKAR1A	PRKACA	PDE11A	PDE8B	TBL1XR1	PMM2	PTEN	AKT1	ATP6V0A2	TGFB1	ATP6V1A
HP_PLANTAR_HYPERKERATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PLANTAR_HYPERKERATOSIS	WNT10A	PLN	PLEC	DKC1	ITGB4	PERP	AAGAB	KRT14	TNNC1	KRT9	LDB3	AKT1	ABCA12	TRPV3	SLURP1	BAG3	TAT	TGM1	NEXN	SASH1	FIG4	DSG1	ATP2A2	TRAPPC11	KDSR	KRT10	KRT5	NECTIN1	TMPO	KANK2	GJB2	CSTA	LAMC2	DSG2	KRT6B	ALOX12B	ALOXE3	LAMB3	KRT1	GJB4	USB1	KRT6A	DSP	TXNRD2	CRYAB	CARD14	MBTPS2	PNPLA1	TP63	CAST	SERPINA12	TNNI3	GJA1	PRDM16	KRT16	CTC1	FHL2	RHBDF2	CYP4F22	AQP5	CTSC	TRPM4	AAAS	PPCS	BRAF	TPM1	LORICRIN	SDHD	HPGD	FKTN	TAFAZZIN	SRD5A3	GJB6	NPM1	KRT6C	SDHC	PKP1	TNFRSF1B	GJB3	KLHL24	ACTC1	FGFR2	MYH7	RTEL1	SCN5A	ACTN2	POMP	COG6	SERPINB7	RSPO1	JUP	SLCO2A1	NHP2	PARN	COL7A1	USF3	ANKRD1	DSC2	SEC23B	DMD	LMNA	CAP2	KRT17	MAP2K1	FERMT1	SNAP29	DES	LAMA3	PSEN2	KRT2	SMARCAD1	COL14A1	DOLK	MYBPC3	COL17A1	RECQL4	TERT	RBM20	CD28	MCOLN1	RAF1	TTN	TNNT2	PSEN1	CERS3	PIK3CA	MYPN	KRAS	KRT83	KLLN	TERC	ANAPC1	NIPAL4	NLRP1	ABCC9	CSRP3	CTLA4	MTX2	GMPPA	SDHA	PTEN	PIGL	NOP10	SDR9C7	SGCD	VCL	HAND2	MYH6	MAP2K2	CFTR	PEPD	LEMD3	TINF2	WRAP53	SDHB	TCAP	ENPP1	GATAD1	LAMA4	TAF1A
HP_MULTIPLE_CAFE_AU_LAIT_SPOTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_CAFE_AU_LAIT_SPOTS	RERE	FANCM	SEC23B	KDM5C	SDHD	RAD51	PALB2	UBE2T	NF1	SDHC	BUB1B	MAD2L2	PTEN	FANCA	MAP2K1	FANCC	BRIP1	PMS2	FANCG	MSH2	ABCB6	BUB1	MAP2K2	MLH1	TWIST2	FANCF	TMC8	ERCC4	CIB1	SLX4	FANCD2	TRIP13	MAN1B1	PIK3CA	RFWD3	SPRED1	IL7	PRKAR1A	ATM	BRCA2	XRCC2	PLXND1	SDHB	KRAS	BUB3	AKT1	KLLN	CEP57	TMC6	FANCB	FANCL	REV3L	RAD51C	BRCA1	FANCE	MSH6	ARL6IP6	FANCI	USF3	BRAF	PCNT	TP63
HP_NUMEROUS_PIGMENTED_FRECKLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NUMEROUS_PIGMENTED_FRECKLES	ERCC3	MPLKIP	GTF2E2	ERCC4	ERCC2	GTF2H5	ERCC5	TARS1	RNF113A
HP_RETICULAR_HYPERPIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETICULAR_HYPERPIGMENTATION	TERT	PORCN	POLA1	TERC	POFUT1	TINF2	KRT14
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	ARHGAP31	KRT14	PLEC	ITGB4	KRT5
HP_BILATERAL_SINGLE_TRANSVERSE_PALMAR_CREASES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_SINGLE_TRANSVERSE_PALMAR_CREASES	FGF9	PNPLA6	CD96	TPM2	DIS3L2	HDAC8	NOG	RAD21	TNNI2	ESCO2	TSEN34	DPH1	CKAP2L	PEX26	NIPBL	GDF5	FIG4	TSEN15	PEX6	ROR2	PEX13	TSEN2	SEPSECS	PEX19	PEX1	HDAC4	FGFR2	PEX10	SMOC1	NUP188	BMPR1B	PEPD	KAT6B	CHST3	EXT1	BRD4	PEX12	TELO2	MYH3	TWIST1	FGFR3	TSEN54	PTPRF	PEX2	NALCN	PEX16	NXN	PEX14	NECTIN1	PEX5	TRPS1	CCBE1	PEX11B	TNNT3	SMC1A	RNU4ATAC	PEX3	SMC3	TBX4
HP_EXCESSIVE_WRINKLING_OF_PALMAR_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXCESSIVE_WRINKLING_OF_PALMAR_SKIN	MRAS	LZTR1	CSTA	ZNF469	FGFR2	TBL1XR1	TGM5	RIT1	PLOD1	ATP6V0A2	C1R
HP_BILATERAL_MICROPHTHALMOS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_MICROPHTHALMOS	PUF60	FAM111A	MPLKIP	GTF2E2	GDF3	GDF6	ERCC2	GTF2H5	PAX6	PTCH1	TARS1	MED13L	RTTN	CAPN15	ERCC1	FRAS1	FIG4	SHH	TCOF1	ERCC3	RNF113A	VAC14	STRA6
HP_DYSCHROMATOPSIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSCHROMATOPSIA	CNGB3	MORC2	MTRFR	PRPH2	PROM1	OPN1LW	POLG	C1QTNF5	ACO2	PDE6H	OPA1	OPA3	GUCA1A	OPN1SW	NR2E3	CEP78	BEST1	IMPG1	TK2	PDE6C	TMEM126A	GUCY2D	FGF14	OPN1MW	AFG3L2	DNM1L
HP_CONGENITAL_STATIONARY_NIGHT_BLINDNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_STATIONARY_NIGHT_BLINDNESS	CABP4	MYO6	FGFR2	GRK1	GRM6	CACNA2D4	PDE6B	NYX	SLC24A1	RHO	CACNA1F	GNAT1	GNB3	SAG	PRPH2	TRPM1	RLBP1	TRAPPC9	RDH5	LRIT3	GPR179
HP_PUNCTATE_CATARACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PUNCTATE_CATARACT	CRYBB2	SEC23A	FTL	RTN4IP1	LIM2	CRYBB1	OPA3	HSF4	MAF	BEST1	VIM	GJA8
HP_ECTROPION_OF_LOWER_EYELIDS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTROPION_OF_LOWER_EYELIDS	CTNND1	DLX4	DHODH	CDH1	RNF2
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	HNRNPK	KDM6A	KMT2D	GRIA3	CDC42
HP_ABNORMALITY_OF_CHORIORETINAL_PIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CHORIORETINAL_PIGMENTATION	VPS33A	PAX6	OAT	MAGEL2	DCT	SIM1	TSC1	MICOS13	TSC2	BEST1	WT1	SLC25A15
HP_REDUCED_VISUAL_ACUITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_VISUAL_ACUITY	TIMP3	NDE1	IL12A-AS1	DCT	PROM1	FKTN	INPP5E	IL12A	TMEM237	SELENOI	OPA1	PDE6B	CCDC28B	GNAT2	ABCD1	OPA3	TGFBI	CNGB3	DNM1L	AP4B1	CDC42	LRAT	KIZ	KIDINS220	TCIRG1	TRPM1	NDUFV1	FXN	NEK2	CEP290	NDP	ERF	MT-ND3	FOXL2	SLC24A5	PCYT1A	LRP5	NYX	TRIO	HCCS	BAP1	IMPG1	HLA-B	IFT140	C1QBP	ERAP1	MFSD8	ACTB	SMARCE1	CLCN7	NDUFS6	TWIST1	XRCC4	RDH12	HMX1	RRAS2	CACNA1F	CFAP418	SOBP	HK1	NDUFAF1	TRAF7	POMGNT1	CHP1	IMPDH1	ARMC9	SALL4	TMEM216	ARNT2	SLC7A14	NDUFAF3	PCARE	STAT4	RIMS2	FRAS1	NDUFS1	OPN1SW	REEP6	CHST3	NR2F1	PSAP	MTR	MAPKAPK3	RPGRIP1	HGSNAT	PDE6H	NLRP3	FZD4	DLD	TUBB4B	NDUFS8	FREM2	CTNNB1	SREBF1	TLCD3B	ABCA4	GALC	AP4S1	VPS11	ASPA	ABCC6	NDUFS2	COL8A2	DHX37	LYST	ALMS1	WAC	ACVRL1	MTRR	GRHL2	NDUFB10	SPATA7	WDR26	TASP1	MMP19	SLC45A2	HPS5	SALL2	TTC8	UROS	C1QTNF5	MED25	OPN1MW	TUBA3D	CRX	POGZ	SLC24A1	AP4E1	TSEN54	GNB3	PIGN	CD109	POU3F4	TIMMDC1	TERT	PDGFB	ATXN7	BBS2	TANGO2	PRPH2	ARL6	BCOR	OAT	CNGA1	LCA5	DYRK1A	ZNF408	GPR179	TUB	GUCA1B	PIK3CA	PITPNM3	CEP250	CNGB1	EIF2B1	AIRE	EIF2B4	HEXB	CERKL	NHS	RP1L1	PAX6	PIK3R2	PLG	USP45	NDUFAF4	ITGA2B	CA4	PANK2	SMCHD1	VPS13B	CLN3	CRB1	TLR4	ARL3	APC	PDE6G	RBP4	ARSA	BEST1	POMT1	HPS4	POLG	SMARCA2	EIF2B5	TENM3	KIF14	PRR12	PRDX1	GJB2	NDUFS7	CDH3	VSX1	TMEM67	ELN	COL2A1	PPT1	COL9A2	BMP4	IMPG2	RGR	AGBL5	CDHR1	MAG	FRMD7	GNAT1	MTRFR	TULP1	TIMM8A	SCAPER	CDH23	POMK	MICU1	AP3B1	PRPS1	ZFYVE26	WDR19	SH3BP2	DRAM2	PTPN22	OFD1	NBAS	PRCD	EYS	PDE6C	PRPF8	CABP4	ARHGEF18	DTNBP1	COL11A1	UROD	COL4A1	IFNGR1	TSPAN12	TBX1	CHN1	ZNF513	ATF6	KCNJ13	ATRX	LOXL3	CYP4V2	RCBTB1	KIF11	C4A	DHDDS	ARL2BP	IFT172	CRYAA	PDHA1	AIP	HEXA	ZFHX4	TFE3	PITX3	FLNA	B4GAT1	TMEM138	IL2RA	MTTP	COX7B	FGFR2	ANKRD55	BBS5	TUBB3	AP4M1	SCN8A	COL25A1	SDHAF1	CHRDL1	SEMA4A	IL23R	NDUFB11	MARK3	SDHD	GRIP1	AFF4	HLA-DRB1	WASF1	GUCY2D	PQBP1	PRPF31	SARDH	AIPL1	OCRL	POLR3GL	LAMA1	NDUFB3	UFM1	NDUFA1	LRPAP1	RPE65	HSD17B10	NDUFB9	MLXIPL	TCF4	PLOD1	USH2A	NDUFAF5	PRPF3	ATIC	MIR184	GDF6	FOXRED1	NR2E3	BTNL2	RP2	MT-ATP6	SDHA	RP1	XYLT1	CRYGC	NSMCE2	PHOX2A	GLB1	GNAQ	ZEB1	ZMIZ1	PUF60	GPR143	TBC1D24	ELOVL4	WARS2	NF2	RHO	LIM2	FKRP	CAPN5	AHR	CBS	SMO	NDUFAF2	SLC4A11	NDUFAF8	KAT6A	CC2D2A	UBAC2	BBS1	AFG3L2	SMAD4	AKT1	HPS6	PLA2G6	GM2A	MT-ND2	EIF2B2	SLC1A3	GRK1	TACSTD2	IFT88	IDH3B	MIR204	FAM161A	TYR	TUBGCP4	MEFV	PGK1	CRYBB1	PDE6A	GUCA1A	TSEN34	CD247	KLHL7	DHX38	TSEN15	HPS1	SLC39A14	RAC1	SEPSECS	FDXR	ITGB3	SMARCB1	PTPN2	CLCN6	GMPPB	TMEM126A	CTC1	ROM1	NF1	XYLT2	TMEM98	BLOC1S3	SUFU	CACNA2D4	PRPF6	ACO2	CCR1	TMEM126B	PCYT2	NAA10	NRL	ELOVL1	IDH3A	SAG	MFRP	PORCN	LONP1	POMT2	LAMB2	RPGR	CLCC1	PEX6	AP1G1	COL9A3	TOPORS	MAFB	RIC1	SNRNP200	CHST6	FBN1	CNGA3	GNAS	ALG3	ADNP	FGFR3	MC1R	NPHP4	ADAMTS10	NDUFS3	H1-4	ZNF423	PANK4	OPN1LW	BLOC1S5	SCN1A	TSEN2	SDHB	IL10	MMACHC	DPP6	IL2RB	ATP1A3	NDUFS4	RD3	CLRN1	RBP3	B3GAT3	AGBL1	CREBBP	GP1BA	GDF2	MAK	KIAA1549	WHRN	OCA2	GRM6	RFT1	EPRS1	FBN2	PROS1	B3GALNT2	MERTK	MTFMT	P4HTM	ARHGEF2	ATOH7	FLVCR1	NMNAT1	RHOA	COL9A1	RTN4IP1	KIF1C	RP9	BRAF	FSCN2	YME1L1	CEP164	GP1BB	STX3	NDUFA11	POC1B	DNAJC30	RORA	TMEM231	CTNS	ARL2	KLRC4	KRT12	PRIMPOL	NDUFV2	NDUFA6	IQCB1	MAP3K7	GATA1	MEN1	ITGA2	PRPF4	ADAMTSL4	MT-ND1	OVOL2	EIF2B3	ENG	RLBP1	TNFSF11	FAS	OGT	NFIX	LRIT3	PITX2	NUBPL	AHI1	LARGE1	SLC38A8
HP_CURLY_EYELASHES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CURLY_EYELASHES	ABCC9	FZD2	BRD4	HDAC8	RAD21	DVL3	DVL1	KCNJ8	WNT5A	SMC1A	STAG2	NIPBL	SMARCA2	SMC3
HP_ABNORMAL_VESTIBULO_OCULAR_REFLEX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VESTIBULO_OCULAR_REFLEX	CLIC5	FXN	RFC1	CACNA1A	ESPN
HP_PROGRESSIVE_NIGHT_BLINDNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_NIGHT_BLINDNESS	CNGB1	IFT88	PROM1	IDH3B	CERKL	FAM161A	RP1L1	ARHGEF18	HGSNAT	ZNF513	USH2A	PRPF3	OAT	PDE6A	ZNF408	RP9	CA4	FSCN2	KIZ	TTC8	KLHL7	ABCA4	TUB	DHX38	IFT140	NEK2	DHDDS	ARL2BP	PDE6G	NR2E3	AHR	RP2	INPP5E	IFT172	PDE6B	RP1	ROM1	GUCY2D	CLRN1	RBP3	SPATA7	RPE65	IMPDH1	RDH12	RDH11	IMPG1	PRPH2	SAG	PRPF6	IMPG2	RGR	TULP1	MAK	CYP4V2	AGBL5	KIAA1549	CDHR1	CRX	NRL	PRPF4	IDH3A	CRB1	RHO	RPGR	ARL3	SCAPER	CFAP418	POU3F4	RLBP1	POMGNT1	SEMA4A	BBS2	BEST1	RDH5	CNGA1	ARL6	LRAT	MERTK	OFD1	SLC7A14	PCARE	PRCD	EYS	TOPORS	PRPF31	SNRNP200	PRPF8	REEP6	GUCA1B	AHI1
HP_HYPOPLASIA_OF_THE_IRIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_IRIS	CPAMD8	PAX6	SOX10	FOXC1	CPLX1	FGFRL1	COL4A1	HHAT	FGFR1	MIR184	PIK3R1	WT1	LETM1	WDR73	ERCC6	HS2ST1	IGF1R	MITF	NDP	LAMB2	CTBP1	LRP2	NSD2	SALL4	ITPR1	PAX3	STIM1	PORCN	MAFB	CHN1	ADAMTSL1	PITX2	FBN1
HP_LACRIMAL_DUCT_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACRIMAL_DUCT_STENOSIS	CD151	PTDSS1	TET3	PIK3CD	KAT6A	KNSTRN	SIX1	YY1	PAX1	EYA1	MED12	TCOF1	PPP1CB
HP_PERIPHERAL_RETINAL_AVASCULARIZATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_RETINAL_AVASCULARIZATION	DLK1	RTL1	LRP5	ZNF408	FZD4	MEG3	CTNNB1	TSPAN12	NDP
HP_ABNORMAL_PUPILLARY_FUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PUPILLARY_FUNCTION	GNAQ	NOTCH2NLC	KIF1B	DNMBP	LAMB2	MYL9	SH3TC2	PHYH	ATP1A2	GNAT2	LCA5	CNGB3	GNA11	MPZ	GALC	PRPS1	STIM1	PMP22	ORAI1	ATP1A3	HHAT	PSAP	DDC	LRAT	ZFHX4	CACNA1A	SLC1A3	CNGA3	ATF6	MYH11	BAP1	LOXL1	CHRNA3	PRNP	GNB2	COL25A1	CHRDL1	PEX7	TULP1	SPATA7	SF3B1	COLQ	RPE65	RPGR	SIX6	CYSLTR2	PEX10	ACTA2	PDE6H	PDE6C
HP_UNILATERAL_PTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNILATERAL_PTOSIS	SMS	MID2	ZFHX4	SMC1A	CAPN15	COL25A1	MED12L	PUF60
HP_UNDETECTABLE_LIGHT_AND_DARK_ADAPTED_ELECTRORETINOGRAM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNDETECTABLE_LIGHT_AND_DARK_ADAPTED_ELECTRORETINOGRAM	IMPDH1	PCYT1A	RP9	RP1	CLRN1	CERKL	RPGRIP1	AIPL1	MT-ATP6	ADAR	NR2E3	NUP62
HP_ABNORMAL_PUPILLARY_LIGHT_REFLEX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PUPILLARY_LIGHT_REFLEX	COLQ	GALC	PRPS1	RPE65	PMP22	RPGR	LAMB2	SH3TC2	PSAP	GNAT2	CHRNA3	LRAT	PDE6H	LCA5	CNGA3	MPZ	PDE6C	CNGB3	ATF6	TULP1	SPATA7
HP_OCULAR_ANTERIOR_SEGMENT_DYSGENESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCULAR_ANTERIOR_SEGMENT_DYSGENESIS	RERE	CPAMD8	ELN	FAM111A	SEM1	FKTN	ALDH18A1	GATA1	RAD51	TRIM44	KANSL1	MT-ND5	GTF2I	FANCC	ENTPD1	NDP	ABCA2	NCF1	SLC25A11	DOCK6	CDH2	EIF4H	CYP1B1	RPL18	ERCC3	FANCF	ERCC4	MPLKIP	FANCD2	MAB21L1	PITX2	COL2A1	PEX5	EPHA2	PHGDH	B9D1	NHS	HMX1	DLST	CRYBB3	GTF2E2	DIS3L2	LRP2	SALL4	FANCL	RNASEH2C	IFIH1	AGK	CHST3	GNAQ	VHL	TRIM28	CAV1	FUT8	FZD4	SBF2	WT1	CRPPA	MAD2L2	ZEB2	FANCA	SLC33A1	WDR73	BCL7B	KMT2C	FOXC1	RPL27	MT-ND6	PIK3C2A	RAB3GAP1	RPL35A	PAX6	RPS10	PITX3	RPS26	FLNA	MED25	TARS1	ELP4	TONSL	TELO2	KIF1B	GFER	RPS15A	JAG1	TMEM127	FOXE3	METTL27	NSD2	ITPR1	PEX11B	STIM1	FANCB	EHMT1	LTBP2	AKT1	WFS1	FANCI	MT-TF	RPL15	LONP1	BDNF	ADAR	REST	H19	VPS4A	SDHAF2	RAB3GAP2	MIP	POMT2	MT-TC	ERCC8	RFC2	GCNT2	IARS2	RET	POMT1	LDHD	TENM3	PRR12	FKBP6	SOX10	SIPA1L3	RAB18	MT-CO1	POU6F2	GLIS3	PIK3R1	XYLT2	RPS19	ETFB	ERCC6	MITF	LSS	BUD23	TBC1D20	ANAPC1	TRIP13	WDR37	ZNF469	RAD51C	FANCE	DNAJC30	TCTN1	MT-CYB	SLC2A10	CTDP1	BRCA2	SIL1	ATOH7	RPS24	COL4A1	POMGNT1	VPS37D	MAF	BTRC	BFSP2	ADA2	LMX1B	IGF1R	TMEM107	HHAT	COL18A1	CRYAA	CRYBB2	WNT10B	TMEM67	MKS1	B3GLCT	DAG1	CC2D2A	PRDM5	XRCC2	MT-TK	ETFA	RNASEH2A	SDHD	BRCA1	PORCN	BCOR	FBN1	OCRL	CANT1	NF1	MT-TW	MLXIPL	SRY	MIR184	ETFDH	TMEM216	MT-TL1	MT-TV	HSPG2	FBXW11	KCTD1	CTBP1	MAX	TCTN2	LIMK1	CRYGC	NUP188	RPS17	RPS7	PEX7	RPS28	CENPF	CSPP1	TMEM237	RPL35	VSX1	FKRP	EPS15L1	RPL5	IDH1	FAR1	DPAGT1	RPS27	ADAMTSL1	ERCC1	MIR204	RNASEH2B	CRYGD	CRYBA2	CEP290	PALB2	FGFR1	CRYBB1	RPS20	SDHB	FANCG	CRYBA1	COL11A1	RPGRIP1L	MDH2	MT-CO3	ATAD3A	CRYGB	GTF2H5	RPGRIP1	PNPT1	TBL2	LAMB2	ERCC2	PSMC3	FGFR2	MAFB	RIC1	CHN1	TMEM231	SAMHD1	FANCM	B9D2	CPLX1	FGFRL1	MT-CO2	GJA8	ADAMTS10	MAP2K2	TMEM270	BRIP1	PXDN	NCAPG2	PAX3	DLX5	B3GAT3	SLX4	MAFA	RECQL4	STX1A	GPC3	PIGY	TWIST1	BAZ1B	RBP4	TCTN3	RNF113A	NEU1	RPL11	TP63	SDHC	HS2ST1	FAM126A	UBE2A	TXNDC15	RPL26	GTF2IRD2	MED13L	UBE2T	MSMO1	LETM1	TEK	FGF3	FBLN5	LMNA	FH	PTEN	KCNA4	SEC31A	COL4A5	RPL31	MT-TS2	PIEZO2	RFWD3	SDHA	RPS29	EPG5	PYCR1	MT-TQ	CRYAB	TSR2	CLIP2	SH3PXD2B	GTF2IRD1	MT-ND1	TREX1	DLX6	LARGE1	SLC38A8
HP_ABNORMALITY_OF_RETINAL_PIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_RETINAL_PIGMENTATION	PROM1	SELENOI	LZTFL1	PDE6B	GNAT2	NDUFA13	POC1B	CNGB3	COX7B	KIZ	TAF2	MT-ND3	CDHR1	NEK2	CEP290	FLVCR1	CP	ARL6	RAX2	PCYT1A	IFT140	ALDH1A3	MED12	SIX6	NYX	NMNAT1	HCCS	SDCCAG8	NDUFA10	MORC2	IMPG1	ERCC2	IFT27	MSTO1	RNASEH1	NDUFS2	MT-TH	BBS5	RDH12	FOXRED1	SURF1	RHO	PEX7	TULP1	IFT74	MT-CO1	POMGNT1	PEX14	CACNA1F	CEP19	MT-ND1	LRAT	RRM2B	UNC119	CDH3	SLC7A14	PCARE	LARGE1	REEP6	RAX	PLK4	TUBGCP4	BBS7	HGSNAT	CAV1	ERCC1	MT-ATP8	SOX10	ABCA4	MT-TF	NDUFS4	PEX6	PET100	TLCD3B	PEX1	AMACR	KIAA1549	NPHP4	MMACHC	SPATA7	SLC45A2	TTC8	NPHP1	HKDC1	MT-CO2	ARSG	CRX	TTLL5	SLC24A1	JAG1	OTX2	RIMS1	RAB18	GNB3	MT-TL1	POMT1	BBS2	RDH5	PRPH2	MT-TW	ZFYVE26	CNGA1	LCA5	PEX11B	AKT1	HADH	EDN3	GUCA1B	NDUFS8	EPG5	CNGB1	ALMS1	AIRE	NR2E3	IDS	CERKL	HADHB	RP1L1	TRIM32	NDUFV2	DYNC2I1	USP45	ZNF408	NDUFA4	ATXN7	CA4	RAB3GAP1	PANK2	VPS13B	TNFRSF11B	PNPLA6	ARL3	PEX13	PDE6G	ERCC3	NGLY1	IDH3B	IMPDH1	IFT172	NDUFA9	PRCD	TUBGCP6	MFRP	MKS1	RP9	PRDX1	RPGRIP1	NDUFAF2	CFI	ISCA1	IMPG2	RGR	AGBL5	MCOLN1	DYNC2H1	PEX5	MT-TK	MKKS	GNAT1	PEX16	SCAPER	ERCC6	MFSD8	RLBP1	PDE6A	NPHP3	WFS1	NDUFA12	OFD1	CFAP410	EYS	PDE6C	PRPF8	GUCA1A	CABP4	WDR19	ARHGEF18	RPGR	VPS41	ZNF513	KCNJ13	CYP4V2	FLCN	PEX26	CNGA3	FAM161A	TUB	ARL13B	DHDDS	ARL2BP	LYST	ERCC8	CFAP418	NDUFS7	PDHA1	TRPM1	MT-ND6	KIF11	PRSS56	PEPD	PAX6	ALDH3A2	MTTP	CRB1	ACOX1	NDUFA2	ECHS1	CNNM4	SDHAF1	CFH	AHI1	NDUFB11	RNF216	SDHD	SEMA4A	MT-ND4	RPS6KA3	SLC19A3	PHYH	COX15	GUCY2D	PRPF31	TTPA	IQCB1	FKRP	RPE65	SAG	SNRNP200	TYR	USH2A	PRPF3	CACNA2D4	FLNB	CEP164	RP2	MT-ATP6	HADHA	SDHA	PISD	RP1	VPS33A	SLC12A6	NDUFAF5	RAB28	CEP120	BBS9	ELOVL4	CTNS	APC	WRN	AHR	CBS	CLDN19	RNU4ATAC	SLC6A6	NDUFV1	SOX2	TACO1	FSCN2	GRK1	AIPL1	IFT88	POMT2	KLHL7	DHX38	TBC1D20	PEX19	ROM1	MT-CO3	PRPF6	NRL	PEX2	IDH3A	ERCC4	CLCC1	BEST1	TRIM37	TOPORS	CHM	OPN1LW	NDUFAF6	GDF6	BBS12	PITPNM3	TTC21B	NDUFS3	BBS4	COA8	NCAPG2	MITF	BBS1	SDHB	RAB3GAP2	MT-TS2	OPN1MW	NOTCH2NLC	INVS	GMPPB	EFEMP1	RD3	CLCN3	SUMF1	RBP3	ATF6	MAK	LIPT1	GSS	OCA2	GRM6	MTFMT	EDNRB	MT-ND5	MERTK	ERCC5	BBS10	RMRP	PDE6H	MT-TV	ELMO2	MT-TN	COX8A	DYNC2LI1	MT-ND2	CLRN1	TNFRSF11A	BBIP1	MC1R	ADAM9	LMNA	WDPCP	TMEM98	DYNC2I2	PTEN	PEX10	POLR3A	TIMP3	PIEZO2	PEX12	IFT80	CTNNB1	PRPF4	NDUFS1	TRAF3IP1	DRAM2	MT-TQ	LRIT3	DHX16	PEX3	GPR179
HP_PAROXYSMAL_INVOLUNTARY_EYE_MOVEMENTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAROXYSMAL_INVOLUNTARY_EYE_MOVEMENTS	NDUFB3	NDUFS7	NDUFA1	NDUFV2	NDUFA6	ELOVL4	NDUFB9	PSAT1	TMEM126B	NDUFAF5	SLC2A1	NDUFS6	NDUFS8	NDUFS3	MT-ND1	NDUFAF4	ABCA4	NDUFB11	NDUFV1	NDUFAF1	TIMMDC1	PROM1	NDUFAF2	FOXRED1	NDUFAF8	PRPH2	NDUFA11	CNGB3	MT-ND3	NDUFS2	SLC35A2	NKX6-2	NDUFAF3	NDUFS1	NDUFS4	NUBPL	NDUFB10	MT-ND2
HP_UVEAL_MELANOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UVEAL_MELANOMA	BRAF	GNAQ	BAP1	CYSLTR2	STK11	GNA11	SF3B1
HP_FLAT_CORNEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLAT_CORNEA	BCL7B	TMEM270	GTF2I	KERA	NCF1	MLXIPL	METTL27	MARK3	GTF2IRD2	FKBP6	TBL2	CLIP2	RFC2	STX1A	BUD23	GTF2IRD1	LIMK1	EIF4H	VPS37D	DNAJC30	BAZ1B	TGFB2	ELN	PRDM5
HP_RETINAL_PIGMENT_EPITHELIAL_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_PIGMENT_EPITHELIAL_ATROPHY	ABCA4	ALDH3A2	RDH11	PROM1	C1QTNF5	ELOVL4	VCAN	SNRNP200	TIMP3	CRX	GNAT2	TRNT1	IDH3A	CDHR1	LCA5	RLBP1	CNGB3	CYP4V2	MFRP	SPATA7	TLCD3B	TOPORS	RPE65	RPGR	IMPG2	PRPH2	BEST1	KIAA1549	LRAT	RS1	ALMS1	PDE6H	CNGA3	PDE6C	ATF6	TUB
HP_IRIS_HYPOPIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRIS_HYPOPIGMENTATION	NDN	ARSG	UBE3A	MYO5A	HSPG2	TYR	SPEN	BLOC1S6	TYRP1	RERE	SNRPN	GPR143	BLOC1S5	LYST	WHRN	HPS4	OCA2	SOX10	PRKCZ	AP3D1	RAB27A	BEST1	KANSL1	XYLT2	UBE4B	CASZ1	AP3B1	MAGEL2	MYO7A	USH1C	ADGRV1	CEP78	HPS6	PRPH2	DTNBP1	CIB2	MLPH	KCNAB2	HERC2	HPS1	LUZP1	MC1R	PWRN1	MT-TS2	MKRN3	MMP23B	SNORD115-1	PITX2	USH1G	CDH23	SLC45A2	ATP10A	HPS5	IMPG2	IMPG1	BLOC1S3	PDPN	ESPN	PRDM16	GABRD	SKI	HARS1	CLRN1	EPG5	PCDH15	USH2A	NPAP1	SNORD116-1	PWAR1	PDZD7
HP_CHORIORETINAL_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHORIORETINAL_DYSPLASIA	POMGNT2	NDUFB11	POMT1	FKRP	COX7B	LARGE1	FKTN	OCRL	DAG1	TUBGCP4	B3GALNT2	B4GAT1	COL4A1	POMK	TUBGCP6	KIF11	CRPPA	RXYLT1	HCCS	POMT2	POMGNT1
HP_LACRIMAL_GLAND_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACRIMAL_GLAND_HYPOPLASIA	FGFR2	SOX10	FGF10	FOXL2	FGFR3
HP_BONE_SPICULE_PIGMENTATION_OF_THE_RETINA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BONE_SPICULE_PIGMENTATION_OF_THE_RETINA	MKS1	ABCA4	POMGNT1	RP9	TTC8	SNRNP200	PCARE	LZTFL1	ARSG	FLVCR1	CRX	ZNF513	CFAP418	RP1	BBS9	IDH3A	LCA5	CLRN1	USH2A	MFRP	SPATA7	FAM161A	VPS13B	PROM1	CNGB1	RPE65	ARL3	PRPF31	IMPG2	TULP1	CLCC1	RHO	PDE6A	PISD	CNGA1	IMPDH1	RP1L1	KIAA1549	LRAT	EYS	PRCD	CRB1	FSCN2
HP_UNCONTROLLED_EYE_MOVEMENTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNCONTROLLED_EYE_MOVEMENTS	JRK	POMGNT1	GABRG2	SLC2A1	ADORA2A	GABRA1	CACNA1H	GABRB3
HP_HYPOPLASIA_OF_THE_FOVEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_FOVEA	IKBKG	HPS5	PAX6	PRR12	GDF3	DCT	GDF6	BLOC1S3	TYR	MC1R	UGP2	SLC24A5	GNAT2	ATF6	CACNA1F	OCA2	CNGB3	GPR143	WT1	CFAP418	NEU1	BLOC1S5	RPGR	AP3D1	HPS4	PDE6H	CNGA3	PDE6C	SLC38A8	SLC45A2
HP_MACULAR_DYSTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_DYSTROPHY	PEX1	TIMP3	CCNQ	CFI	PROM1	SYCE1	CDH3	BEST1	MFSD8	BBS5	MT-TK	CHST6	PRPH2	CFH	RP1L1	IMPG2	MT-TL1	IMPG1	ELOVL4	MYO5A	EFEMP1	MT-TE
HP_RETINAL_TELANGIECTASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_TELANGIECTASIA	MT-ND6	TSPAN12	MT-ATP6	NDP	GDF2	MT-ND2	MT-CO3	MT-ND1	STN1	MT-CYB	FRG1	NDUFS2	CTNNB1	MT-CO1	ENG	PCNA	MT-ND4L	FZD4	DNAJC30	MT-ND4	CTC1	ACVRL1	ZNF408	SMAD4	LRP5	MT-ND5
HP_OPTIC_DISC_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPTIC_DISC_HYPOPLASIA	APC	GDF3	GDF6	ARSL	SALL4	FANCB	SRD5A3	TRIT1	HESX1	MAFB	CHN1	NFIX	HNRNPU	NR2F1	SNAP29	DDHD2	PAX6	EXOC2	POLR3A
HP_PERIPHERAL_RETINAL_DEGENERATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_RETINAL_DEGENERATION	POU3F4	RS1	COL2A1	CFI	EFEMP1	CFH	KCNJ13
HP_IMPAIRED_SMOOTH_PURSUIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_SMOOTH_PURSUIT	NOP56	ATXN2	EEF2	SACS	TMEM216	MRE11	THG1L	PAFAH1B1	ATXN3	STXBP1	TSEN54	ATXN8OS	DPM2	XRCC4	FGF14	STT3A	INPP5E	WARS2	ITPR1	TBCD	ELOVL4	KCND3	TULP1	PDHB	SPTBN2	PLA2G6	RARS1	GNB1	SYT14	MAN2B1	CACNA1A	PEX10	FTL	ATXN1	SYNE1	RFC1	POLR3B	ATXN10	PRNP
HP_VITREORETINOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VITREORETINOPATHY	CTNNB1	NR2E3	COL2A1	COL11A1	VCAN	TSPAN12	COL9A2	NDP	ERBB3	COL9A1	LRP5	ZNF408	LOXL3	COL18A1	CAPN5	P3H2	FZD4	COL9A3	CRB1	KCNJ13
HP_POSTERIOR_SUBCAPSULAR_CATARACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_SUBCAPSULAR_CATARACT	CNBP	GJA8	ADAMTS18	NF2	LCA5	OPA3	REEP6	RBP3	ARL2BP	SPATA7	ZNF408	CHMP4B	RPE65	ARL3	OFD1	SPRTN	IMPG2	TULP1	TONSL	OAT	IDH3B	PDE6A	IMPDH1	LRAT	EYS	ALMS1	POLR3GL
HP_GRANULAR_MACULAR_APPEARANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GRANULAR_MACULAR_APPEARANCE	LRAT	RPE65	LCA5	CFI	EFEMP1	PROM1	CFH	SPATA7
HP_MONOCHROMACY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MONOCHROMACY	CNGA3	CNGB3	OPN1LW	RPGR	OPN1MW	GNAT2	CNNM4	NBAS	ATF6	PDE6H	PDE6C
HP_OPTIC_NERVE_COMPRESSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPTIC_NERVE_COMPRESSION	CDH23	TGFB1	CLCN7	TNFSF11	SNX10	TCIRG1	CA2	USP8	TNFRSF11A
HP_HORIZONTAL_PENDULAR_NYSTAGMUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HORIZONTAL_PENDULAR_NYSTAGMUS	CNGB3	LRP5	MT-ATP6	ADAR	NUP62
HP_RETINAL_PIGMENT_EPITHELIAL_MOTTLING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_PIGMENT_EPITHELIAL_MOTTLING	PRPH2	CFI	PROM1	SELENOI	ELOVL4	CTNS	VPS41	GNAT2	ERCC8	LCA5	RLBP1	GUCA1A	CNGB3	CYP4V2	CFH	ABCA4	RHO	SPATA7	CACNA2D4	RPE65	RPGR	MT-ATP6	RDH5	PISD	SLC6A6	LRAT	PDE6H	GUCY2D	CNGA3	EFEMP1	PDE6C	ATF6	CLCN3	DHX16
HP_CENTRAL_HETEROCHROMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_HETEROCHROMIA	PNPLA6	PTEN	AKT1	MAFB	CHN1	SALL4
HP_ANTERIOR_CHAMBER_SYNECHIAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_CHAMBER_SYNECHIAE	PITX2	OVOL2	IL2RA	MIR204	VSX1	B3GLCT	PAX6	ANKRD55	ATOH7	COL18A1	LCA5	HMX1	FOXC1	CD247	ZEB1	SPATA7	STAT4	FOXE3	RPE65	NDP	CYP1B1	GRHL2	PTPN22	PTPN2	LRAT	IL2RB	COL8A2
HP_ATTENUATION_OF_RETINAL_BLOOD_VESSELS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATTENUATION_OF_RETINAL_BLOOD_VESSELS	NMNAT1	MVK	SNRNP200	GGCX	PCARE	FLVCR1	ROM1	RTTN	CCDC28B	GNAT2	ZNF513	IDH3A	LCA5	CLRN1	PDE6G	CNGB3	ARL6	TLCD3B	ARL3	IDH3B	RP1L1	KIAA1549	LRAT	EYS	CNGA3	CERKL	PRCD	ATF6	PRPH2	MKS1	ABCA4	TTC8	BEST1	USP45	CFAP418	BBS9	CDHR1	HLA-A	USH2A	RHO	SPATA7	PROM1	RPE65	TOPORS	IMPG2	RPGR	RDH5	RLBP1	WDR19	RGR	CLCC1	RPGRIP1	PDE6A	CNGA1	SLC6A6	PDE6H	BBS1	IFT172	PDE6C	AIPL1	FSCN2
HP_PUNCTATE_OPACIFICATION_OF_THE_CORNEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PUNCTATE_OPACIFICATION_OF_THE_CORNEA	KRT12	CHST6	CYP4V2	PSMB8	UBIAD1
HP_CONGENITAL_BLINDNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_BLINDNESS	RD3	ATIC	NSMCE2	XRCC4	SARDH	LRAT	CEP290	LRP5
HP_HYPOPIGMENTATION_OF_THE_FUNDUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPIGMENTATION_OF_THE_FUNDUS	TYR	MTTP	PRPH2	SOX10	GGCX	SLC45A2	COL4A1	MC1R	SLC25A15	BLOC1S6	PRPF8	CACNA1F	EPG5	GUCA1A	IFNG	GPR143	TSC1	MITF	MIR140	PAX3	EDNRB	OCA2	TSC2	GUCY2D	KIF7
HP_RETINAL_NONATTACHMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_NONATTACHMENT	IMPG2	IMPG1	PRPH2	PTEN	BEST1	AKT1	ATOH7
HP_VITREOUS_HEMORRHAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VITREOUS_HEMORRHAGE	CAPN5	LRP5	GNAQ	BAP1	PROC	FZD4	RB1	CYSLTR2	BEST1	TSPAN12	NDP	RS1	ZNF408	CTNNB1	GNA11	SF3B1
HP_TRACTIONAL_RETINAL_DETACHMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRACTIONAL_RETINAL_DETACHMENT	TSPAN12	LRP5	NDP	FZD4	ATOH7	VCAN	ZNF408	CTNNB1
HP_SLOW_DECREASE_IN_VISUAL_ACUITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLOW_DECREASE_IN_VISUAL_ACUITY	SUFU	PRPH2	MT-ND6	MT-ATP6	SMARCE1	TGFBI	MT-ND2	NF2	MT-CO3	MT-ND1	MT-CYB	GUCA1A	CTNNB1	BAP1	FA2H	NDUFS2	BRAF	MT-CO1	RP1L1	TRAF7	TERT	MT-ND4L	PDGFB	SMO	RAX2	DNAJC30	SMARCB1	MT-ND4	GUCY2D	AKT1	DNM1L	MFN2	PIK3CA	MT-ND5
HP_LACRIMAL_DUCT_APLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACRIMAL_DUCT_APLASIA	EYA1	FRAS1	FREM2	GRIP1	FGF10	FGFR3	FGFR2	SIX1
HP_LIMITED_EXTRAOCULAR_MOVEMENTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_EXTRAOCULAR_MOVEMENTS	COLQ	CHP1	SCO2	NDUFS2	SURF1	LAMB2	NDUFAF3	NDUFB8	HSD17B4	VAMP1	VMA21	TUBB2B	SYT2
HP_UNILATERAL_NARROW_PALPEBRAL_FISSURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNILATERAL_NARROW_PALPEBRAL_FISSURE	TBL1XR1	ZFHX4	COL25A1	SMARCA2	RHOA
HP_PERIPAPILLARY_CHORIORETINAL_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPAPILLARY_CHORIORETINAL_ATROPHY	CFI	EFEMP1	CFH	TEAD1	NRL
HP_CORNEAL_OPACITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORNEAL_OPACITY	MAF	COL11A1	ELN	PIGG	MLXIPL	FKTN	TBCE	CTSA	ALDH18A1	B3GALNT2	TCF4	FLNB	FGFR1	TGFBI	SOX2	RIPK4	TWIST2	POLA1	GBA	COX7B	TAT	TMEM216	VSX2	HRAS	ASAH1	FIG4	GTF2I	SUMF1	MT-CYB	CTNS	NDP	PEX3	NCF1	SMARCAL1	DAG1	CRYBB2	MBTPS2	TCTN2	KRT5	LIMK1	SLC4A4	PDGFB	EIF4H	CYP1B1	PPP1R17	NELFA	GNPTAB	ABCA1	PSMB8	APOB	IDUA	RXYLT1	HCCS	VAC14	OVOL2	MMP2	LIFR	MYORG	LETM1	GNPTG	CENPF	KRAS	B9D1	CSPP1	ZMPSTE24	MMP1	CRYAA	NRAS	TMEM237	HMX1	LRP5	FKRP	NSD2	UROS	SLC29A3	LARGE1	ESCO2	SLC4A11	CREBBP	LMNA	NTRK1	FRAS1	KDSR	SC5D	SLC20A2	POMT1	MAB21L2	TBCK	MCOLN1	XPA	TRAPPC2	FZD4	CEP290	ERCC8	CPLX1	FOXE3	COLEC10	APOA1	CD247	SREBF1	BUB1B	GNAS	STAT4	WDR73	BCL7B	GJB3	XPR1	PEX6	GRHL2	OCRL	PEX19	TRPV3	YAP1	COL4A1	COL8A2	PTPN2	RPGRIP1L	PITX3	GUSB	POMGNT2	PEX12	NLRP3	CRYGC	CRYBB1	RPGRIP1	JAG1	ELP1	GLB1	WT1	ATP7B	PAX6	ERCC4	METTL27	BUB3	POMT2	TBL2	PIGN	CEP57	GJA8	MAN2B1	DYRK1A	STS	XPC	SLC25A24	APOE	PEX16	TMEM231	CHST6	PRDM5	PITX2	COL7A1	B9D2	PDGFRB	PEX1	CHUK	IDS	ZEB1	DHCR7	LCAT	GALNS	PEX11B	DDB2	TMEM270	FERMT1	PXDN	RFC2	B3GALT6	NCAPG2	NGLY1	PEX10	PEX13	IL2RB	ATAD3A	GHR	OCLN	UBIAD1	TENM3	PEX5	KERA	GJB2	PEX26	AGBL1	FKBP6	VSX1	LIPC	STX1A	BMP4	SCARF2	PIGL	PLCB3	ERCC5	AIRE	LDLR	BAZ1B	OTUD5	NDUFB11	RAB23	TCTN3	POMGNT1	NEU1	ERCC6	CTBP1	KRT14	BUD23	PTPN22	ZNF469	TXNDC15	REV3L	POMK	DNAJC30	TCTN1	NOD2	RAX	GJA1	ALDH3A2	GTF2IRD2	ATOH7	PEX14	TBX1	VPS37D	DST	FOXC1	CYP4V2	KIF11	CRPPA	EP300	GJB4	PEX2	ERCC3	FBLN5	TMEM107	IKBKG	PIK3R1	B4GAT1	COL18A1	BUB1	COL17A1	CRYGD	TMEM67	APOA2	PRDM12	POLR3A	MKS1	KRT12	IL2RA	TRIP13	ARSB	B3GLCT	ANKRD55	EPHX2	LTBP2	CC2D2A	MMP14	CHRDL1	FUCA1	PLXND1	ERCC2	CLIP2	GLA	JAM2	NAGA	ST14	GTF2IRD1	PCSK9	PCYT1A	PORCN	CRYBA4
HP_UNDETECTABLE_VISUAL_EVOKED_POTENTIALS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNDETECTABLE_VISUAL_EVOKED_POTENTIALS	PDSS2	RDH11	PRPS1	ZNHIT3	MPDU1	RAB3GAP2	NDUFS4	COX6B1	COQ2
HP_REMNANTS_OF_THE_HYALOID_VASCULAR_SYSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REMNANTS_OF_THE_HYALOID_VASCULAR_SYSTEM	FZD4	PRR12	NDP	NF2	PAX6	ATOH7	CRPPA	BCOR
HP_CONGENITAL_PTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_PTOSIS	ZFHX4	IGF1	COL25A1	DNA2	TRIO	BRCC3
HP_RETINAL_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_DYSPLASIA	POMGNT2	POMT1	FKRP	FKTN	COX7B	TUBB	RXYLT1	LARGE1	B3GALNT2	POMGNT1	FOXE3	CRPPA	INPP5E	PDE6D	NDUFB11	POMT2	DAG1	B4GAT1	COL4A1	POMK	NDP	KIF11	HCCS	FLNB
HP_GAZE_EVOKED_HORIZONTAL_NYSTAGMUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GAZE_EVOKED_HORIZONTAL_NYSTAGMUS	SACS	SOX3	CACNA1A	GRM1	PRRT2	SYT14	THG1L	CACNA1G	PAX7	UROC1	GCH1	KCND3	ATP1A2	BEAN1	ITPR1	SCN1A
HP_PROGRESSIVE_VISUAL_FIELD_DEFECTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_VISUAL_FIELD_DEFECTS	PRPF3	PRPH2	CTNNB1	RDH5	RLBP1	BRAF	RHO
HP_HYPOPLASTIC_IRIS_STROMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_IRIS_STROMA	MITF	MAFB	CHN1	FOXC1	PAX6	SALL4	PITX2	PAX3
HP_PERIPHERAL_VISUAL_FIELD_LOSS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_VISUAL_FIELD_LOSS	IDS	PRPH2	AGBL5	CRX	ZNF513	LCA5	DLAT	SDHA	RHO	SPATA7	ABCA4	PROM1	CNGB1	POU3F4	RPE65	SEMA4A	RDH5	RLBP1	MYOC	PDE6A	RNU4ATAC	CNGA1	SLC6A6	LRAT	SH3TC2	GUCY2D	CYP1B1	CWC27
HP_DECREASED_CORNEAL_REFLEX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CORNEAL_REFLEX	RETREG1	CLTCL1	ALG11	NTRK1	ZFHX2	KIF1A	LIFR	ELP1	SCN9A	WNK1
HP_ABNORMALITY_OF_MACULAR_PIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_MACULAR_PIGMENTATION	CACNA1F	CDH3	CFI	PROM1	ELOVL4	OPN1MW	IFT74	MFSD8	PCYT1A	CRX	CFHR3	ABCA4	CFAP418	LCA5	OCA2	HMCN1	ADAR	CFH	APOE	SPATA7	RAB28	TLCD3B	VPS13B	RD3	RIMS1	OPN1LW	RPE65	MC1R	RAX2	PAX2	PRPH2	CNGB3	IMPG1	CFHR1	TMCO1	LRAT	EFEMP1	MMACHC	CTNNA1	SLC38A8
HP_JERKY_OCULAR_PURSUIT_MOVEMENTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JERKY_OCULAR_PURSUIT_MOVEMENTS	GBA2	SPTBN2	TTBK2	KCNC3	PRNP
HP_PRIMARY_CONGENITAL_GLAUCOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMARY_CONGENITAL_GLAUCOMA	TEK	LTBP2	LMX1B	ADAMTSL1	RPS19	CYP1B1
HP_PERIPHERAL_OPACIFICATION_OF_THE_CORNEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_OPACIFICATION_OF_THE_CORNEA	SLC29A3	KERA	MMP2	LIPC	EPHX2	PCSK9	ALDH18A1	PPP1R17	GHR	LDLR	APOE	APOB	CHRDL1	APOA2
HP_ABNORMAL_IRIS_PIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_IRIS_PIGMENTATION	SNAI2	CPAMD8	UBE3A	SOX10	DCT	MLXIPL	MYO5A	SLC45A2	TYR	TYRP1	NDN	SNRPN	GTF2I	HERC2	ACTB	PEX3	NCF1	MITF	LYST	MYH11	SLC24A5	LIMK1	SOS1	EIF4H	ACTG1	GNAQ	PRKAR1A	PAX3	UROC1	PRKCZ	AP3D1	RAB27A	BEST1	KANSL1	UBE4B	SALL4	MYO7A	EDNRB	ADGRV1	PAH	HPS6	PRPH2	MLPH	KCNAB2	BCL7B	HPS1	PEX6	PEX19	MKRN3	MMP23B	ATP10A	HPS5	IMPG1	PEX12	BLOC1S3	PDPN	MAGEL2	C1QTNF5	OCA2	PRDM16	HARS1	ELP1	GATA1	USH2A	METTL27	TBL2	NPAP1	MAPK1	EDN3	PWAR1	AKT1	MAFB	CHN1	PEX16	ARSG	PEX1	HSPG2	MC1R	SPEN	BLOC1S6	RERE	PEX11B	GPR143	ELN	PNPLA6	TMEM270	BLOC1S5	RFC2	WHRN	PEX10	PEX13	HPS4	KIT	PEX5	KITLG	PRR12	PEX26	FKBP6	STX1A	BAZ1B	XYLT2	PDE4D	CASZ1	AP3B1	PTEN	BUD23	DNAJC30	USH1C	CEP78	DTNBP1	GTF2IRD2	PEX14	CIB2	VPS37D	LMX1B	PEX2	LUZP1	PWRN1	TP63	MT-TS2	SNORD115-1	PITX2	USH1G	CDH23	IMPG2	ESPN	GABRD	SKI	CLRN1	EPG5	CHRDL1	PCDH15	CLIP2	SNORD116-1	GTF2IRD1	PDZD7
HP_APLASTIC_HYPOPLASTIC_LACRIMAL_GLANDS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASTIC_HYPOPLASTIC_LACRIMAL_GLANDS	GJB6	SLC25A24	FGFR2	SOX10	FGF10	GJB2	FGFR3	FOXL2
HP_ABNORMAL_RETINAL_VASCULAR_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RETINAL_VASCULAR_MORPHOLOGY	NF1	MLXIPL	PROM1	COMT	SELENOI	SNRNP200	CTSA	ETHE1	COL4A1	USH2A	RTTN	PRPF3	CCDC28B	GNAT2	LCA5	PDE6G	MT-CYB	CNGB3	FRG1	KIZ	MT-ND1	G6PC1	ASAH1	GTF2I	IFT140	NEK2	ABCC6	APOC2	NCF1	SLC25A11	KRIT1	MAX	NR2E3	RP2	DGCR6	VHL	MT-ATP6	LIMK1	PSAP	RP1	LRAT	GLB1	EIF4H	GNAQ	LRP5	TMEM231	IMPDH1	TBX1	IMPG1	GM2A	BEST1	LOXL1	CENPF	DNMT3A	STN1	DLST	RHO	CYP27A1	SERPINC1	ABCA4	RPE65	CAPN5	ARVCF	POMGNT1	MT-ND4L	AHR	NEU1	SMPD1	LPL	TULP1	UFD1	TREX1	MT-ND4	SLC6A6	SLC7A14	PCARE	BBS1	IFT172	NEK1	SMAD4	REEP6	FSCN2	IFT88	IDH3B	FZD4	FAM161A	MT-ND6	HGSNAT	HIRA	PDE6A	ARL6	MT-ND5	MT-CO1	TLCD3B	KLHL7	DHX38	BCL7B	GALC	SDHB	NDP	F12	SLC37A4	KIAA1549	CTC1	ROM1	ACVRL1	CYP1B1	MDH2	SPATA7	RDH12	TTC8	PRPF6	KIF1B	DNMT3B	BBS9	CRX	NRL	IDH3A	CTNNB1	TMEM127	WT1	SEC24C	METTL27	TBL2	MT-CO3	SMCHD1	RPGR	BBS2	RDH5	CLCC1	CNGA1	TOPORS	ZNF408	ESS2	GUCA1B	MYD88	IKBKG	RTL1	CNGB1	HSD11B2	HEXB	CERKL	RET	MVK	RP1L1	GGCX	SDHD	NDUFS2	CA4	ELN	TMEM270	PCNA	SDHAF2	ARL3	RFC2	MYOC	NMNAT1	EYS	PRCD	RBP3	PRPH2	MKS1	FKBP6	SAG	STX1A	IMPG2	GDF2	RGR	MAK	MT-ND2	AGBL5	CDHR1	BAZ1B	MEG3	DGCR2	SCAPER	DUX4	SDHC	PDCD10	RLBP1	WDR19	CLCNKB	BUD23	RPGRIP1	MERTK	OFD1	PDE6H	DNAJC30	ENPP1	PDE6C	PRPF8	JMJD1C	GTF2IRD2	DARS1	ARHGEF18	TSPAN12	ZNF513	FLVCR1	VPS37D	CLRN1	NOD2	RP9	TUB	DHDDS	ARL2BP	PDE6B	FH	HEXA	CNGA3	ATF6	LRRC32	PAX6	USP45	DLK1	CFAP418	IGFBP7	SDHA	PRPF4	HLA-A	GPIHBP1	CRB1	CCM2	DGCR8	ENG	RREB1	EPAS1	CLIP2	SEMA4A	IVNS1ABP	GP1BB	GTF2IRD1	PRPF31	AIPL1	AHI1
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	IL12A-AS1	PROM1	COMT	IL12A	SELENOI	CTSA	COL4A1	RTTN	CCDC28B	GNAT2	PDE6G	NLRP3	MT-CYB	CNGB3	KIZ	MT-ND1	PCNA	GTF2I	NEK2	NCF1	SLC25A11	KRIT1	ERF	EIF4H	TCF3	LRP5	ERCC3	HLA-B	IMPG1	MPLKIP	MAB21L1	USB1	ERAP1	MT-ATP6	DNMT3A	DLST	RHO	SAMD9	GTF2E2	POMGNT1	MT-ND4L	NEU1	LPL	LRAT	TREX1	SLC7A14	PCARE	STAT4	ERCC2	IFT172	NEK1	REEP6	TFRC	VHL	LRRC8A	MT-ND6	HGSNAT	IGHM	SREBF1	TLCD3B	STX11	ABCA4	BCL7B	GALC	NDP	KIAA1549	SCN9A	ACVRL1	MBTPS2	CYP1B1	SPATA7	MT-ND5	PRPF3	TTC8	FUCA1	TBX1	UROS	BTD	TARS1	KIF1B	FRG1	CRX	CTNNB1	TMEM127	WT1	METTL27	MT-CO3	SMCHD1	IGLL1	BBS2	RDH5	ARL6	FZD4	CNGA1	ZNF408	LRBA	ESS2	GUCA1B	MYD88	IKBKG	CNGB1	AIRE	ETHE1	ENG	HSD11B2	HEXB	CERKL	RP1L1	PLG	NDUFS2	CA4	ELN	FERMT1	AP1G1	TLR4	SDHAF2	ARL3	ERCC8	DNASE1L3	RFC2	MYOC	IDH3B	RET	CD19	PRCD	CD79B	TNFRSF1A	MKS1	GJB2	FKBP6	SLC39A4	IMPG2	RGR	ERCC5	AGBL5	CDHR1	DGCR2	SCAPER	PDCD10	RLBP1	WDR19	CLCNKB	BUD23	ANO10	PDE6A	OFD1	EYS	DNAJC30	SDHB	PDE6C	PRPF8	NMNAT1	RAG1	NLRP1	UROD	ARHGEF18	IFNGR1	TSPAN12	GNAS	ZNF513	VPS37D	FGFR2	BTK	IARS2	C4A	TUB	DHDDS	ARL2BP	PDE6B	HEXA	XPA	TNFRSF13B	LRRC32	PAX6	MTTP	SETX	DLK1	ERCC6	CFAP418	IL23R	STX16	GLA	SEMA4A	IVNS1ABP	GP1BB	HLA-DRB1	SDHD	AEBP1	PRPF31	AIPL1	NF1	MLXIPL	SNRNP200	ICOS	USH2A	LCA5	TKT	G6PC1	ASAH1	CD79A	TGFBI	IFT140	LBR	ABCC6	APOC2	MAX	NR2E3	BTNL2	RP2	DGCR6	LIMK1	PSAP	BLNK	RP1	GLB1	GNAQ	VPS33A	GSN	PSMB8	TMEM231	IMPDH1	GM2A	BEST1	LOXL1	CENPF	TP63	MMP1	TNFRSF13C	STN1	DDB2	RAG2	CYP27A1	SERPINC1	RPE65	CAPN5	ARVCF	AHR	SMPD1	WAS	TULP1	KAT6A	FGFR3	UFD1	RNF125	MT-ND4	SLC6A6	UBAC2	BBS1	SMAD4	FSCN2	ERCC1	IFT88	FAM161A	FOXC1	MEFV	HIRA	DKC1	AP1B1	MT-CO1	KLHL7	DHX38	FGF10	F12	SLC37A4	XPC	CTC1	ROM1	IGSF3	PSMB4	MDH2	CR2	RDH12	PRPF6	GTF2H5	CCR1	DNMT3B	BBS9	NRL	IDH3A	ERCC4	SEC24C	TBL2	RPGR	CLCC1	PEX6	MASP1	TOPORS	FBN1	RTL1	COL7A1	PIK3R1	MVK	GGCX	IKZF1	TMEM270	FOXC2	IL10	PAX1	RBP3	PRPH2	MAPT	SAG	PSMB9	STX1A	GDF2	MAK	MT-ND2	BAZ1B	MEG3	GJB6	RNF113A	DUX4	SDHC	WIPF1	RNF168	RPGRIP1	MERTK	ATM	PDE6H	ENPP1	JMJD1C	GTF2IRD2	DARS1	FLVCR1	POLH	CLRN1	NOD2	RP9	FH	COL17A1	CNGA3	HLCS	ATF6	KLRC4	SHMT2	USP45	GATA1	IGFBP7	SDHA	PRPF4	HLA-A	GPIHBP1	CRB1	CCM2	DGCR8	RREB1	EPAS1	CLIP2	FAS	GTF2IRD1	AHI1	MANBA
HP_ABNORMALITY_OF_THE_EXTRAOCULAR_MUSCLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_EXTRAOCULAR_MUSCLES	KIF21A	TYMP	RRM2B	PHOX2A	TUBB3	ZFHX4	COL25A1	POLG	LIG3	TUBB2B	MATR3
HP_ABNORMALITY_OF_THE_PALPEBRAL_FISSURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PALPEBRAL_FISSURES	RERE	OFD1	NTNG2	UNC80	ZEB2	EED	RTTN	CLCN4	NDN	MGAT2	RRAS	GPC3	CKAP2L	CDC42	RIT1	FANCC	SNRPN	PEX3	PAX3	HSPG2	LARP7	PIEZO2	RAB11B	TRIP12	CDH2	SOS1	MED27	EIF4H	HDAC4	TWIST2	PIGW	FANCF	CTU2	ERCC4	TTC26	PRRX1	FANCD2	LRP2	RBM10	LIFR	ODC1	MYLPF	DSE	UMPS	SLC2A10	SRCAP	BBS5	CHRNG	EBF3	SALL4	FGF10	RAPSN	TBCD	SLC39A13	MYCN	RPL10	PACS1	NSDHL	STIL	CEP290	CEP19	ESCO2	EMC10	CRKL	PCLO	CNTNAP2	SC5D	LRP4	TNNI2	SEMA3E	CHST3	ARV1	CLP1	PTPN23	RAC1	EHMT1	BBS7	MED25	KATNB1	DHODH	SNX14	GMNN	NAA10	GLI3	CENPT	CPLX1	COLEC10	POLR1D	EFEMP2	ATP6V1A	MAD2L2	NALCN	PHF8	ATP1A2	MED13L	FANCA	SETBP1	SKI	KMT2C	CLCN3	PEX6	COPB1	SMC1A	SPTBN1	HRAS	AP4E1	KDM6A	CHAMP1	COPB2	FBXW11	WDFY3	DDX6	FAM20C	BRAF	PDGFRB	SMOC1	TCF20	CD96	FLNA	PEX12	TBX1	UBA5	MAGEL2	PDE4D	NUAK2	ZNF711	POLA1	TELO2	WDR62	SMS	JAG1	SEMA5A	MEIS2	BCORL1	RLIM	GATA1	METTL27	NPAP1	ALDH6A1	GALNT2	GABRB2	CREBBP	PPP1R12A	CEP57	RPS6KA3	TMCO1	USP9X	MYT1L	HBB	PEX16	ESS2	FIG4	OCA2	PKDCC	ABCA5	DNMT3A	CENPJ	SPEN	DYNC1I2	ZIC1	ADAT3	CHD8	RTL1	EEF1A2	TRIM32	PIK3R2	ELN	VPS13B	C2CD3	SLC1A2	CIT	KRAS	KCNA2	LIG4	AARS1	SYT1	ZMPSTE24	ATAD3A	QRICH1	KMT2E	MCPH1	TENM3	BMP1	UBE3B	FGFR2	PEX26	FKBP6	PIGB	MECP2	RAB18	PIGL	NSD1	HPDL	PEX5	ACTL6B	SLC6A17	OTUD5	CSGALNACT1	STAC3	MKKS	CAMK2A	RAI1	DGCR2	BUD23	PMM2	FANCE	SATB2	MSL3	DNAJC30	TFAP2A	TCF7L2	RNU4ATAC	PHIP	PUS7	TLK2	SPATA5L1	FLI1	SIAH1	BCL11B	PEX14	IGBP1	SYNCRIP	PYCR2	CLTCL1	VPS37D	TUBGCP2	DEAF1	KIF11	EP300	GABRA5	AGO2	IGF1R	FGFR1	ZIC2	TCF4	MASP1	PHF6	OSGEP	TP63	TFE3	EIF2AK3	SALL1	GON7	SNORD115-1	DYNC1H1	CNKSR2	PARS2	TRIP13	PGAP1	DVL3	NF1	NECAP1	SETD5	CLTC	DOCK3	MAPRE2	USP27X	TAF1	ALG14	ORC6	XRCC2	HNRNPK	SOX5	KAT8	KCNE5	SETD1A	ZNF81	ACTB	AFF4	ATP6V1B2	RECQL4	BRCA1	EXOSC2	KCNJ2	POLR3GL	PTPN11	APC	PIGG	SUPT16H	RAD21	KDM4B	PURA	RIPK4	MTOR	XRCC4	NOVA2	DONSON	RAF1	CEP152	SPRED1	MEGF8	ACTG1	COL11A2	ZMIZ1	FGD1	CACNA1G	MAN1B1	TRMT1	PEX7	DCHS1	CCDC32	ZNF148	GABRA2	DLX4	KNL1	LZTR1	RIN2	CERT1	PPP2R1A	NECTIN1	TNRC6B	NEXMIF	PPP2R5D	UFD1	EDEM3	SEC24D	ATP1A3	CENPE	AP3B2	ARID2	PIGT	ADNP	ORC1	FGF3	ASPH	TFAP2B	HIRA	LMNA	METTL5	PALB2	PPP1R15B	FHL1	DMD	CBL	COG1	WASHC5	HCN1	FANCG	MKS1	OCRL	FBN1	ACSL4	ACTL6A	UBR7	PITX1	HERC1	MAP3K7	KLF13	FGFR3	GSC	NSUN2	TSPAN7	MAPK1	NRAS	SOS2	MED12	MUSK	SEC24C	SLC9A7	SUZ12	PAFAH1B1	PQBP1	HS2ST1	ANKRD17	MYH3	APC2	AFF3	PEX1	IL1RAPL1	GAD1	SYNGAP1	EFTUD2	PEX11B	SATB1	NUP85	AP1S1	MAP2K1	CELF2	SNAP29	ANKRD11	BPTF	GATAD2B	KMT2A	GPC6	LZTFL1	MAFB	PGAP3	SLX4	UGDH	CNOT3	KIFBP	MAP2K2	TSR2	TUBB	DNAJC21	PIGY	COLEC11	KIAA1109	HBA2	BAZ1B	MEG3	RNF2	GABRG2	SLC19A3	EBP	NOTCH2	SCAPER	MIR140	KPTN	ARX	RRAS2	MFSD2A	ERMARD	PLK4	CHD1	MRAS	BBS10	UBE2A	CUL4B	ARID1B	SIN3A	ATP6V0A2	ARHGEF2	CCDC22	SVBP	PCGF2	FOXL2	HERC2	UBE2T	NBN	BBIP1	STRA6	SOX11	DLK1	PEX2	UBE3A	BBS2	CHST14	PTCH1	MED12L	WDPCP	C12orf57	ZNF292	ASXL3	UPF3B	INTS1	WASF1	FGF13	PTEN	TTC8	NFIX	GPC4	ZMYM2	TRAIP	CTNND2	TTC37	SF3B4	PTCHD1	RFWD3	SON	DLG3	CCDC115	B3GLCT	DHDDS	TXNL4A	PYCR1	DGCR8	TOE1	RREB1	IQSEC2	CLIP2	MN1	ADAMTS3	TMEM237	NCAPD3	SH3PXD2B	GTF2IRD1	OTUD6B	DVL1	CEP55	SPECC1L	TRIO	HCFC1	ADAMTSL2	DALRD3	CWC27	SMAD4	TGFB3	COMT	ALX4	SZT2	FLCN	RAD51	KANSL1	DPM1	AMMECR1	GTF2I	EZH2	NCF1	LMNB1	ROR2	SCN3A	MAPK8IP3	FBXO11	KDM1A	RYR1	YY1	DOCK6	NTRK2	TOR1A	AHDC1	NELFA	POLR1C	SDCCAG8	CEP63	IFT27	LETM1	FIBP	FTSJ1	IFT74	BRPF1	SLC29A3	CHD7	MADD	FANCL	DPYSL5	TBX6	YWHAG	THOC6	FOXG1	GLE1	MID1	ZSWIM6	CHD4	SLC25A24	PACS2	WAC	TBCK	EFNB1	WDR35	HNRNPU	BUB1B	KCNMA1	ARHGEF6	BCL7B	CACNA1A	KCNB1	COL5A1	MYOD1	SYNJ1	TMEM107	KCNN3	MKRN3	TASP1	GJA1	GPKOW	UQCC2	ATRX	AUTS2	TSPEAR	PIGV	KIF14	NARS1	PIGN	NXN	BRF1	ERF	COL11A1	FANCB	SLC45A1	GRIN2D	FAT4	AMPD2	TBL1XR1	CDK13	AKT1	FANCI	PRMT7	CAMTA1	HBA1	CAMK2G	TRRAP	SMARCA2	ASXL1	DDR2	SLC12A2	RAB3GAP2	RFC2	LDHD	SIM1	STEEP1	PRR12	BICRA	SPRED2	MYMK	SMPD4	GRIA4	CASK	ATR	PGAP2	RPS19	FOXP1	MEF2C	AP3B1	FRMPD4	CTBP1	RAB39B	NONO	ZBTB20	RAD51C	CDK10	NR2F1	TCOF1	ABCC9	PCNT	KIF7	ADARB1	BMPR1A	KCNH1	CYFIP2	FLII	HNRNPH2	SPOP	AGTR2	MAF	RBMX	WNT5A	SLC13A5	KAT6B	PPP1CB	DNM1	SASS6	SMO	SEPTIN9	HHAT	DHCR24	BUB1	SETD1B	CFAP418	ZFHX4	ZNF462	NTNG1	POLR1B	RDH11	PIGO	PSMD12	ERCC1	COL25A1	BRCA2	ANKLE2	GP1BB	PAK3	SNORD116-1	YWHAE	BCOR	NOTCH3	KAT5	MOGS	MLXIPL	VPS35L	ABAT	SOX9	PLOD1	ASPM	MCTP2	IFT172	ZNF41	KCTD1	MED13	GDI1	DGCR6	LIMK1	CNOT2	NFIB	VAC14	PGM3	PUF60	HSD17B4	BBS9	CEP135	KMT2D	RBPJ	NUS1	CHRNA7	LMX1B	NSD2	SCN8A	BMP2	ARVCF	CDK6	PHOX2B	CDH11	KDM5B	HUWE1	IDH1	CDK19	DDB1	MPDZ	TANC2	FZD2	POLR1A	BCAS3	SETD2	SHOC2	TBX15	PALS1	PEX19	ERCC6	TUBB3	POLR3A	SYP	KIF15	PIK3CA	STXBP1	TRAPPC14	CACNA1B	GNB2	HS6ST2	DACT1	BUB3	TBL2	IFT57	PWAR1	RBBP8	CHN1	EXOC2	STAG2	RASA2	WWOX	FANCM	DHCR7	MVK	BBS12	ANK1	CCNK	FBXL4	DYRK1A	DPYD	DPH1	TMEM270	BRIP1	DYNC2LI1	BBS4	BBS1	PEX10	PEX13	SOX6	HTT	ATRIP	B3GAT3	PPP3CA	KDM5C	RNF135	MID2	STX1A	NDUFS4	SCARF2	BCL11A	DOK7	TRAK1	ADAMTS2	ALG13	LMBRD2	P4HB	DMXL2	GATA4	MINPP1	TAF13	JMJD1C	BCR	GTF2IRD2	ARL6	RHOA	SPART	FGF12	KCNJ5	ATP6V1E1	RPS28	ATP7A	TRMT10A	PWRN1	TBR1	B9D2	TGFB2	IPO8	ZC4H2	PHC1	PIGA	CDK5RAP2	PPP1R21	NPHP1	COG7	EIF5A	TRAPPC4	ALG2	DPF2	BGN	JARID2
HP_RETINAL_FOLD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_FOLD	NDP	PRSS56	ATOH7	TSPAN12	FZD4	LRP5	ZNF408	TUBGCP6	KIF11	CTNNB1
HP_ABNORMAL_MORPHOLOGY_OF_THE_CONJUNCTIVAL_VASCULATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_THE_CONJUNCTIVAL_VASCULATURE	ENG	FUCA1	XPA	CTSA	GDF2	SETX	ERCC5	DDB2	ACVRL1	PCNA	ERCC4	ERCC2	ERCC3	GLA	RNF168	ANO10	PEX6	ATM	GNAQ	XPC	MASP1	SMAD4	MANBA
HP_APLASIA_HYPOPLASIA_AFFECTING_THE_EYE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_AFFECTING_THE_EYE	RERE	CPAMD8	NDE1	FAM111A	SEM1	SMAD4	DCT	FKTN	COMT	LHX4	ZEB2	TBCE	ALX4	SHH	B3GALNT2	RTTN	TMEM216	GNAT2	RAD51	RB1	HYLS1	TRIM44	CNGB3	COX7B	OTX2	GTF2I	FANCC	CEP120	BCOR	NDP	NCF1	HSPG2	ARSL	SLC25A11	EBP	DAG1	SLC24A5	DOCK6	EIF4H	ALDH1A3	POLR1C	SIX6	ERCC3	AP2M1	FANCF	HCCS	ERCC4	INTU	MPLKIP	FANCD2	PITX2	ERCC2	COL2A1	B9D1	ARHGAP31	BRIP1	NHS	HMX1	SALL4	MAF	DLST	PEX7	LRP5	CFAP418	CASK	NEFL	GTF2E2	CHD7	DIS3L2	ESCO2	LRP2	DOCK7	HESX1	TOGARAM1	FANCG	PAX6	FANCL	MITF	FRAS1	PTCH2	SEMA3E	RAX	PHGDH	SLC25A24	MBTPS2	TRIM28	NRAS	SOX2	ERCC1	FZD4	SRD5A3	RARB	ERCC5	WT1	FREM2	CRPPA	HNRNPU	POLR1D	BUB1B	MAD2L2	FANCA	PPP2R1A	WDR73	BCL7B	SMG9	PTF1A	FOXC1	FGFR1	PROM1	CACNA1F	TKFC	SLC2A1	BRCA1	FANCB	KNSTRN	CDON	YAP1	COL4A1	LYST	SMOC1	SLC45A2	HPS5	POMGNT2	GJA1	MED25	HMGB3	NUAK2	HDAC6	TARS1	ELP4	TONSL	KIF1B	RAB18	ALX3	CTNNB1	ABCA4	POU1F1	PROKR2	FOXE3	METTL27	ALDH6A1	NSD2	PRPH2	CSPP1	PIGN	ITPR1	STAG2	CEP57	STIM1	TBL1XR1	ZNF408	FANCI	NEXMIF	FIG4	VHL	ZPR1	IKBKG	DNMT3A	ARNT2	ZIC1	COX14	POMGNT1	BDNF	GLI3	REST	H19	ELN	DDHD2	RAB3GAP1	SMCHD1	TBX1	SDHAF2	SLC6A1	RAB3GAP2	POMT2	ERCC8	RFC2	POMT1	HPS4	SMARCA2	ATAD3A	LDHD	RBBP8	TUBGCP6	MFRP	TENM3	KIF14	PRR12	FKBP6	VAX1	SOX10	MAPRE2	RNF113A	BMP4	POU6F2	PIK3R1	XYLT2	OTUD5	GLI2	MEF2C	SON	VPS13B	ERCC6	POMK	BUD23	TBC1D20	TRIP13	GDF3	WDR37	RAD51C	KIF7	FANCE	DNAJC30	TCTN1	FREM1	PDE6C	NR2F1	TCOF1	BRCA2	PTPN23	ATOH7	TSPAN12	SPOP	ATF6	VPS37D	BTRC	KIF11	PPP1CB	PTCH1	FDFT1	LMX1B	SMO	PIK3CD	IGF1R	TMEM107	HHAT	OSGEP	COL18A1	CRYAA	BUB1	SCN1A	WNT10B	TMEM67	SALL1	DLL4	PRSS56	PITX3	MKS1	TUBB	ANKRD11	CRB1	SETD5	CC2D2A	SCN8A	PDE6D	XRCC2	TMEM127	NDUFB11	HNRNPK	WDR11	GRIP1	ACTB	GP1BB	SDHD	PHYH	VSX2	PQBP1	PORCN	NFIX	FBN1	TUBA8	OCRL	ABCB6	GATAD2B	NF1	EOGT	APC	MLXIPL	SUFU	SYCE1	DONSON	TYR	VPS35L	RIPK4	TRIT1	MIR184	KRAS	GDF6	MT-CYB	PRPS1	FBXW11	CTBP1	CHD2	SIX3	C12orf57	TCTN2	LIMK1	TFAP2A	NUP188	RXYLT1	VAC14	PUF60	PROP1	ELOVL4	CENPF	CTDP1	UGP2	TMEM237	FKRP	ARVCF	EPS15L1	FOXA2	LARGE1	LTBP2	UFD1	MPDZ	HPS6	ZNF699	ADAMTSL1	MAB21L2	IFT74	ASPH	TUBGCP4	RPGRIP1L	HIRA	LHX3	CEP290	PALB2	PLK4	SYNGAP1	TUBB3	GMPPB	GPR161	SOX3	MDH2	PIK3CA	SDHB	TMEM98	BLOC1S3	GTF2H5	NOTCH1	DACT1	NAA10	RPGRIP1	SEC24C	BUB3	TBL2	LAMB2	RPGR	ACTG1	BEST1	WNT3	GRIA4	MAFB	CHN1	ROBO1	TMEM231	EXOC2	HRAS	FANCM	B9D2	CHUK	RET	DPYD	DHCR7	ALX1	CPLX1	FGFRL1	MC1R	ADAMTS10	RSPO2	GPR143	MAP2K2	TMEM270	BLOC1S5	PXDN	RECQL4	PAX3	DLX5	MYO5A	ERF	SLX4	RNF135	STX1A	GPC3	OCA2	BAZ1B	RBP4	TCTN3	NEU1	TP63	SDHC	HS2ST1	POLR1B	MIR140	TXNDC15	RMRP	PDE6H	SIN3A	PIEZO2	JMJD1C	GTF2IRD2	MED13L	RHOA	FOXL2	UBE2T	SNAP29	LETM1	STRA6	FGF3	PAX2	MAX	TBX15	B4GAT1	FH	INTS1	CNGA3	TBR1	POLR3A	MED12	RFWD3	SDHA	RREB1	CLIP2	RBPJ	GTF2IRD1	PCYT1A	AP3D1	CAPN15	DLX6	SLC38A8
HP_APLASIA_HYPOPLASIA_AFFECTING_THE_FUNDUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_AFFECTING_THE_FUNDUS	IKBKG	APC	NDE1	DNMT3A	ARNT2	DCT	FKTN	FOXC1	LHX4	ZIC1	PAX6	SLC45A2	TYR	MC1R	RTTN	SOX2	GNAT2	POMGNT1	TRIT1	TRIM44	CNGB3	RSPO2	DDHD2	DPYD	GPR143	OTX2	MAP2K2	BLOC1S5	PRPS1	NDP	ARSL	SLC24A5	POMT1	HPS4	ATAD3A	MYO5A	ERF	PROP1	PUF60	KIF14	PRR12	GDF3	RNF135	ELOVL4	CENPF	POMT2	RNF113A	UGP2	CASK	SIX6	FANCI	POU1F1	HMX1	OCA2	SALL4	MAF	OTUD5	GLI2	FKRP	CFAP418	NEU1	MEF2C	HNRNPK	SON	NEFL	POMK	FOXA2	B3GALNT2	HESX1	PDE6H	MPDZ	PDE6C	HPS6	NR2F1	MBTPS2	GDF6	IFT74	ATOH7	PTPN23	LHX3	FZD4	SRD5A3	ALDH1A3	SPOP	ATF6	CRPPA	HNRNPU	SNAP29	PPP1CB	PPP2R1A	FDFT1	PTF1A	FGFR1	PIK3CD	PROM1	CACNA1F	FANCB	KNSTRN	CDON	TUBB3	COL18A1	GMPPB	LYST	CNGA3	GPR161	SOX3	PROKR2	POLR3A	HPS5	BLOC1S3	ANKRD11	MED12	SCN8A	ABCA4	WT1	WDR11	RPGR	PRPH2	STAG2	AP3D1	WNT3	GRIA4	MAFB	CHN1	ROBO1	NFIX	TUBA8	ZPR1	GATAD2B	LARGE1	EXOC2	SLC38A8
HP_APLASIA_HYPOPLASIA_OF_THE_OPTIC_NERVE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_OPTIC_NERVE	APC	NDE1	DNMT3A	ARNT2	FKTN	LHX4	ZIC1	RTTN	SOX2	POMGNT1	TRIT1	RSPO2	DDHD2	OTX2	MAP2K2	PRPS1	ARSL	POMT1	ATAD3A	PAX6	ERF	PROP1	PUF60	KIF14	GDF3	RNF135	CENPF	POMT2	RNF113A	CASK	SIX6	FANCI	POU1F1	SALL4	OTUD5	GLI2	FKRP	MEF2C	HNRNPK	SON	NEFL	POMK	FOXA2	B3GALNT2	HESX1	NR2F1	MBTPS2	GDF6	IFT74	PTPN23	LHX3	SRD5A3	ALDH1A3	SPOP	CRPPA	HNRNPU	SNAP29	PPP1CB	PPP2R1A	FDFT1	PTF1A	FGFR1	PIK3CD	FANCB	KNSTRN	CDON	TUBB3	GMPPB	GPR161	SOX3	PROKR2	POLR3A	ANKRD11	MED12	SCN8A	WT1	WDR11	STAG2	WNT3	GRIA4	MAFB	CHN1	ROBO1	NFIX	TUBA8	ZPR1	GATAD2B	LARGE1	EXOC2
HP_APLASIA_HYPOPLASIA_OF_THE_RETINA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_RETINA	IKBKG	DCT	GDF6	ATOH7	FOXC1	PAX6	TYR	SLC45A2	MC1R	FZD4	GNAT2	POMGNT1	ATF6	TRIM44	CNGB3	DPYD	GPR143	BLOC1S5	NDP	PROM1	CACNA1F	SLC24A5	COL18A1	OCA2	HPS4	LYST	MYO5A	CNGA3	HPS5	PRR12	GDF3	BLOC1S3	ELOVL4	UGP2	HMX1	MAF	ABCA4	WT1	CFAP418	NEU1	RPGR	PRPH2	AP3D1	PDE6H	MPDZ	PDE6C	HPS6	SLC38A8
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	NF1	CPAMD8	FANCM	B9D2	SEM1	MLXIPL	FOXC1	RET	WT1	PAX6	CPLX1	FGFRL1	HHAT	RAD51	BDNF	ADAMTS10	TRIM44	MIR184	REST	TMEM216	H19	ELN	TMEM270	GTF2I	FANCC	BRIP1	SDHAF2	MT-CYB	NCF1	PITX2	FBXW11	SLC25A11	CTBP1	RFC2	FAM111A	PAX3	TCTN2	LIMK1	DLX5	EIF4H	LDHD	FANCF	ERCC4	SLX4	PRR12	FANCD2	COL2A1	FKBP6	SOX10	STX1A	GPC3	B9D1	CSPP1	TMEM237	POU6F2	HMX1	PIK3R1	BAZ1B	XYLT2	DLST	TCTN3	TP63	ERCC6	SDHC	EPS15L1	HS2ST1	MITF	DIS3L2	LRP2	LTBP2	SALL4	BUD23	TRIP13	FANCL	TXNDC15	RAD51C	FANCE	DNAJC30	TCTN1	ADAMTSL1	ITPR1	GTF2IRD2	BRCA2	TRIM28	COL4A1	CEP290	PALB2	FGFR1	VPS37D	FOXE3	UBE2T	BTRC	MAD2L2	LETM1	FANCA	WDR73	BCL7B	LMX1B	FGF3	IGF1R	NDP	FANCG	TMEM107	MAX	FH	FBN1	WNT10B	TMEM67	RPGRIP1L	MDH2	MKS1	SDHB	CC2D2A	ELP4	TONSL	KIF1B	RFWD3	SDHA	RPGRIP1	XRCC2	TMEM127	PORCN	METTL27	TBL2	CLIP2	LAMB2	NSD2	GTF2IRD1	STIM1	FANCB	SDHD	BRCA1	MAFB	FANCI	DLX6	CHN1	TMEM231	VHL
HP_APLASIA_HYPOPLASIA_OF_THE_LENS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_LENS	CPAMD8	FOXE3	PRR12	LMX1B	MT-CYB	FGF3	COL2A1	NDP	FBXW11	LTBP2	TONSL	FBN1	ADAMTS10	HMX1	XYLT2
HP_ICHTHYOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ICHTHYOSIS	ST14	EFL1	TGM1	PEX1	BRAF	ABCA12	CSTA	KANSL1	ITGB6	SLURP1	LMNA	HRAS	ERCC3	SUMF1	EBP	ASPRV1	GTF2H5	TACR3	KRT10	TMPRSS6	PEX7	ALOX12B	MPLKIP	ALOXE3	TGM5	KRAS	PNPLA1	DSP	NDNF	NRAS	FEZF1	GTF2E2	SYNE2	CYP4F22	EMD	LSS	DOLK	ERCC2	KRT9	PEX5	CARD14	MBTPS2	NIPAL4	LIPN	KRT1	PHYH	SRD5A3	SHOC2	SGPL1	SEMA3A	AP1B1	VIPAS39	HS6ST1	STIM1	FHL1	GJB2	CHD7	PSAT1	IL17RD	DUSP6	ARSL	POMP	PEX2	TARS1	FLRT3	GNB2	ANOS1	SBDS	FLG	ABHD5	DNAJC21	FGF8	SOX10	NSDHL	STS	GINS1	CARMIL2	PEX16	CHKB	VPS33B	TMEM43	CLDN1	PEX11B	SREBF1	NLRP3	DCC	AHSG	AP1S1	MAP2K1	SNAP29	FGF17	PEX12	HESX1	KRT2	PROKR2	PHGDH	SLC27A4	PIGL	IL2RB	FGFR1	SRP54	CERS3	SDR9C7	RNF113A	CCDC141	PEX6	NEK9	SPINK5	ALDH3A2	MPDU1	PEX14	MSMO1	NOD2	PEX10	PEX3	GBA	SULT2B1	MAP2K2	SLC29A3	SYNE1	COL4A5	PEX26	ORAI1	PEX13	PEX19	PIGA	PROK2	FITM2	SPRY4	LORICRIN	ELOVL4	GJB6	RIN2	CWC27	WDR11
HP_APLASIA_HYPOPLASIA_OF_THE_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_SKIN	TP53	EOGT	PIGG	TERC	DKC1	RTEL1	PLOD1	LRP1	TWIST2	SMARCAD1	COL1A2	COX7B	TINF2	MCTP2	ERCC3	KCTD1	CTBP1	PDE8B	BMS1	LAMA3	KRT5	TERT	DOCK6	PLEC	ALDH18A1	HSPA9	GSN	NELFA	COL5A2	TFAP2A	ZMPSTE24	LAMC2	COL12A1	HCCS	LAMB3	LIFR	LETM1	RBPJ	ITGB4	ARHGAP31	MMP1	DLG4	DDB2	ERCC5	CTC1	SLC39A13	NSD2	USP8	WRN	TGFBR2	FKBP14	COL7A1	NFIX	TNXB	CUL4B	COL6A2	GORAB	SLC29A3	CTSC	LMNA	SMAD3	ERCC6	ITGA6	EDAR	ORC1	DSP	SOX18	TP63	XPA	ABCC6	EDA	B4GALT7	COL3A1	CDH23	AEBP1	CPLX1	NPM1	MTX2	MYH3	ARFGEF2	KLHL24	COL5A1	COL1A1	CHUK	COPB1	TRAF6	DSE	XPC	ERCC4	PDGFRB	ABL1	AIP	POLR3A	FBN1	PRKACA	KRT14	MSX2	ADA2	SMO	POLD1	NOTCH1	ARMC5	PRKAR1A	UBR1	ERCC2	GNAS	TCIRG1	FLNA	ACD	ANTXR2	PORCN	PTDSS1	PROC	C1S	NHP2	ARF1	PMVK	EDARADD	PARN	ARL6IP6	CARMIL2	SPEN	NEDD4L	B3GALT6	FGFRL1	PRKD1	DDR2	DLL4	ENPP1	USB1	FERMT1	ATP6V1B2	RECQL4	KRT2	PROS1	UBE3B	ERMARD	PIK3R1	NDUFB11	ATM	FMR1	CHST14	ADAMTSL2	KDF1	KRAS	ANAPC1	COL6A3	SATB2	SLC2A10	TNFRSF11A	PDE11A	PPARG	MGP	NOP10	POLH	ALX4	PPP1CB	DST	ADAMTS2	DHCR24	TGFBR1	TMTC3	COL17A1	TGFB2	PEPD	CHRNG	LEMD3	WRAP53	COL6A1	TAF1	PYCR1	MAP1B	C1R	ALG9	MTAP	MVK
HP_ABNORMAL_BLISTERING_OF_THE_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLISTERING_OF_THE_SKIN	COL7A1	IL12A-AS1	PLEC	RUNX1	HLA-DRB1	DKC1	ITGB4	DSC3	IL12A	CPOX	HSPG2	KRT14	SPEN	TGM5	RERE	KRT9	SMARCAD1	CSTA	IKZF1	USB1	KRT17	FERMT1	TLR4	AQP5	IL10	KRT10	LAMA3	KRT5	KRT2	ITGA6	LAMB3	KRT1	BRAF	LAMC2	KRT6B	HLA-B	COL17A1	RECQL4	PRKCZ	SLC39A4	ERAP1	SRSF2	MMP1	KRT6A	UBE4B	CTC1	DSG3	CASZ1	BLM	TERC	ANAPC1	KRT16	STAT4	UBAC2	ECM1	KDSR	FOXP3	ITGA3	CLTRN	GJA1	SNX10	DSP	UROD	IFNGR1	CBL	MEFV	NOP10	KCNAB2	KIT	NPM1	TCIRG1	PKP1	GJB4	C4A	GJB3	LUZP1	KLHL24	CLCN7	IKBKG	DSG1	CYP26C1	MMP23B	RTEL1	HLA-DQB1	KLRC4	CD151	TNFSF11	PDPN	UROS	CCR1	GATA1	PRDM16	TINF2	GABRD	SKI	WRAP53	TERT	IL23R	COL2A1	TET2	FAS	NHP2	ASXL1	PARN	SLC6A19	PPOX
HP_ABNORMALLY_LAX_OR_HYPEREXTENSIBLE_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALLY_LAX_OR_HYPEREXTENSIBLE_SKIN	ELN	MLXIPL	RTEL1	ALDH18A1	GSN	PLOD1	TWIST2	CSTA	GBA	ALG8	COL1A2	BRAF	FGFR3	FIG4	GTF2I	EZH2	NCF1	PITX2	LIMK1	MEGF8	YY1	XYLT1	EIF4H	COL5A2	ANTXR1	VAC14	MAN1B1	ALG12	FBLN5	TGM5	SLC2A10	WDR19	ZNF469	NDUFB10	FGF10	EXOC6B	LZTR1	SLC39A13	RIN2	GORAB	FKBP14	SUZ12	FGFR2	TNXB	LTBP1	TERT	ATP7A	CHST3	SLC25A24	OSMR	BCL11B	HPGD	GPX4	ABCC6	TBL1XR1	EED	NAA10	B4GALT7	AEBP1	SHOC2	WDR35	TBX15	EFEMP2	ATP6V1A	BCL7B	FBN1	SKI	KMT2C	B3GALT6	NPR2	COL5A1	SLC6A8	RIT1	HRAS	DSE	PDGFRB	CD96	SLC7A7	NEPRO	EXT1	XYLT2	GNB2	RAF1	FLNA	IFT43	COL3A1	CSPP1	ACD	COL12A1	PTDSS1	METTL27	TBL2	NDUFB11	C1S	FOXC1	RPS6KA3	EHMT1	LTBP4	RTL1	FGD1	GGCX	COL1A1	SMARCA2	ENPP1	KIAA0586	MAP2K1	MAP2K2	INSR	TMEM270	RFC2	ATP6V0A2	SMARCD2	FGF20	B3GAT3	FKBP6	SRD5A3	STX1A	MAPRE2	PTPN11	BAZ1B	OTUD5	MEG3	PUF60	B4GALT1	CHST14	KRAS	ADAMTS2	ADAMTSL2	BUD23	WDR37	MRAS	NBAS	DNAJC30	ATP6AP1	GTF2IRD2	PARN	DKC1	AKT3	VPS37D	DLK1	MRPS22	ATP6V1E1	SPINT2	PEX1	PAX2	MRPS16	PIK3R1	SLC26A2	TGFB2	IPO8	CFTR	TINF2	TUBB	IARS1	PYCR1	NSD1	PTEN	SON	ATP6AP2	PRDM5	C1R	CLIP2	TRPS1	SH3PXD2B	GTF2IRD1	CEP55	COG7
HP_NEOPLASM_OF_THE_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_SKIN	WNT10A	MITF	FASLG	TERC	SUFU	CTLA4	TYR	KIT	LRP1	SMO	AKT1	KRAS	TRPV3	TINF2	FH	PRKCD	HRAS	TNFRSF10B	CD79A	SASH1	ERCC3	ATP2A2	PDE8B	GJC2	LAMA3	NF1	KRT5	TERT	TSC2	SPRED1	BLNK	TCF3	MLH1	POFUT1	APC	KLLN	BAP1	TMC8	KRT6B	SLX4	MPLKIP	DICER1	RASA1	MC1R	SMARCE1	MBTPS2	MSH6	MMP1	NF2	NRAS	PTEN	TP53	CXCR4	CD28	IL7	MSH3	DDB2	KRT6A	ERCC5	CASP10	STK11	WRN	GTF2E2	TRAF7	TSC1	NOTCH3	CREBBP	ALX3	CTSC	PSENEN	TNFRSF4	POGLUT1	PTCH2	FCN3	ECM1	ERCC2	KDSR	SDHC	SNAI2	PDGFB	SDHD	XPA	PDGFRB	LRRC8A	IGHM	DOCK8	MSH2	DKC1	FGFR1	TPP2	CDKN2A	RPS20	RMRP	LAMC2	TNFRSF1B	GJB3	HPGD	GJB2	OCRL	SPTBN1	SEMA4A	SMARCB1	CYLD	LAMB3	XPC	ERCC4	BRAF	SLC45A2	FLT4	PRKACA	COL7A1	UROS	EPCAM	GTF2H5	STAT1	TARS1	PMS2	PRKAR1A	IFNG	RSPO1	SDHB	SLCO2A1	PIK3CA	IGLL1	KRT17	MVK	NTHL1	TMC6	STIM1	CD79B	USF3	CARMIL2	SEC23B	CTNNB1	PIK3R1	MEN1	ING1	CIB1	KEAP1	GNAS	GPR143	MLH3	FERMT1	TGFBR2	RASGRP1	RECQL4	SMARCAD1	MVD	COL14A1	COL1A1	PMS1	LMNA	OCA2	RNF113A	PLCD1	BLM	KRT14	AAGAB	ANAPC1	NLRP1	KRT16	BRD4	GNA14	IL6	GJA1	BMPR1A	PDE11A	WRAP53	FAS	FLCN	POLH	DCLRE1C	EP300	PTCH1	GJB4	IKBKG	SLC17A9	FAN1	STK4	FDPS	GATA1	PMVK	CDK4	CDKN1B	IVNS1ABP	NUTM1	GJB6	AP3D1	PORCN	CD4	PERP
HP_SPARSE_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPARSE_HAIR	WNT10A	ST14	EDARADD	SMAD4	MSX1	OFD1	DKC1	RTEL1	TWIST2	XYLT1	BRAF	MGAT2	ITGB6	TRPV3	HR	TINF2	SKIV2L	EBP	TERT	ALDH18A1	NECTIN1	HDAC4	KRT74	ZMPSTE24	LAMC2	ERCC3	HLA-DRA	SATB2	MPLKIP	LAMB3	GTPBP2	AR	ODC1	CANT1	ALOXE3	GJA1	SMARCA4	CTC1	CHD7	USP8	GTF2E2	WT1	ESCO2	FGFR1	NHP2	TOGARAM1	CDH3	ERCC2	ATP7A	DUSP6	LHB	SLC25A24	GNRHR	MED25	NOP10	SOX18	TGM1	EDA	B4GALT7	SMARCB1	BNC1	ARHGAP31	CDH23	GJB6	WDR35	RMRP	PKP1	ATP6V1A	ARID1A	GJB2	TRAF6	BRCA1	HRAS	NF1	KREMEN1	KRT86	MBTPS2	NFKBIA	IKBKG	NEPRO	FGF17	SOX11	NSMF	PSMC3IP	APCDD1	BRF1	TARS1	FLNA	ARID1B	IFT43	SEMA3E	SMARCE1	KCTD1	HPD	JUP	RNU4ATAC	NR5A1	TMCO1	CYP17A1	FIG4	CENPJ	TACR3	KAT6B	VAMP7	KRT83	SPIDR	KRT81	ZFPM2	PRKD1	NR0B1	NSUN2	LSS	FAS	SMARCA2	USB1	PNPLA6	DOLK	CLDN1	LAMA3	WNT10B	LIG4	ADAMTS3	UBE3B	BICRA	CDH1	RNF113A	PIGL	KRT17	LMNA	SMARCC2	DCAF17	SMARCD1	DOCK6	SDR9C7	ERCC6	BLM	SPRY4	WWOX	KDF1	TERC	ANAPC1	RPL21	KRAS	SPINK5	TP63	COL11A1	KISS1R	KRT25	TTC7A	POC1A	MAF	ITGB4	TCOF1	PPP1CB	SNRPE	IGF1R	CDSN	CYP4F22	KRT71	EDAR	DSG4	PIK3R1	PHF6	CLMP	CKAP2L	TRPS1	LIPN	DLL4	NTRK1	KISS1	TAC3	MESD	CYB5A	ATP6V0A2	TAF1	MDM2	ORC6	CEP57	RIN2	PQBP1	EXOSC2	EOGT	BMP15	STING1	KDM4B	ATR	ARID2	IFT122	RIPK4	ABCA12	NRAS	XRCC4	SOX9	DSG1	CEP152	FSHB	HSPA9	KANK2	GSN	TFAP2A	PSMB8	ANTXR1	VAC14	LPAR6	CACNA1G	POP1	DLX4	WRN	EPS8L3	WDR11	CBS	FRMD4A	DSP	CTSC	CCDC141	PARN	NSD1	CENPE	TBX3	NIPAL4	SOX4	LIPH	ERCC8	SETD2	PPP1R15B	SHOC2	NPM1	CBL	EDNRA	B3GALT6	KLHL24	ALOX12B	OCRL	PTPN22	POLR3A	SLC7A7	EXT1	GTF2H5	NOTCH1	GNB2	NUP107	KRT85	PDGFRB	UBR1	WDR19	ACD	PROKR2	PORCN	PTDSS1	FSHR	CST6	GNRH1	SRA1	MRPS22	EXT2	SRY	RBBP8	APC2	DSC3	ADNP	ALX1	MAP3K1	AXL	SREBF1	AHSG	NUP85	DPH1	GATA4	MAP2K1	POLR3H	NECTIN4	FAT4	RECQL4	GATAD2B	DPF2	KDM1A	ATRIP	CREBBP	KIFBP	ZBTB20	TSR2	DNAJC21	FMR1	DNMT3A	FGF8	HS6ST1	BCORL1	PLK4	ITGA3	PCNT	PROK2	FEZF1	SEC23A	PCGF2	MTX2	DMRT3	FOXL2	ATP6V1E1	CCBE1	PPP2R3C	MED12	BANF1	TRMT10A	IFT52	SULT2B1	HOXC13	ALX4	ASXL3	COL17A1	MAP2K2	ANOS1	IPO8	EZH2	TRAIP	TTC37	SF3B4	DHX37	CARS1	WRAP53	PYCR1	EIF5A	RBPJ	PERP	EDA2R	HRURF	AXIN2	CWC27
HP_MATERNAL_HYPERTENSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MATERNAL_HYPERTENSION	NOS3	NR3C2	SPTBN1	CD46	CFH	CFI	HELLPAR
HP_PROGRESSIVE_PES_CAVUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_PES_CAVUS	SLC33A1	KPNA3	ATP13A2	CAV3	FHL1	KIF5A	UBAP1	ALDH18A1	CPT1C	WASHC5	RTN2
HP_PES_VALGUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PES_VALGUS	PUF60	TCF4	WAC	TPM3	GABRG2	HK1	SCN9A	SLC16A2	RAI1	MAP3K7	COL12A1	LONP1	GDF5	WDR19	GNB2	CAPN1	PPP1R15B	RFT1	COL6A3	SCN1A	SCN1B	SCN2A	KDELR2	TRMT10A	PCDH19	PIGG	COL6A2	GABRA1	TRIP4	SYT1	COL6A1	SH3TC2	TOR1A	GARS1	REEP1	BSCL2	FLNA	FBN1	MYPN	TPM2
HP_ABNORMALITY_OF_THE_FIFTH_METATARSAL_BONE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_FIFTH_METATARSAL_BONE	HEPHL1	HOXD13	GNAS	FLNA	RIPK4
HP_EQUINOVARUS_DEFORMITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EQUINOVARUS_DEFORMITY	ERGIC1	TBC1D24	VPS13A	FARS2	LMX1B	PMP22	SLC26A2	HADHB	ATP6V1B2	HADHA
HP_DEFORMED_TARSAL_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEFORMED_TARSAL_BONES	PHGDH	EZH2	KANSL1	COL1A2	GDF5	HOXD10	ZEB2	ATP6AP2	ECEL1	ADAMTSL1	TNNI2	TPM2
HP_EQUINUS_CALCANEUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EQUINUS_CALCANEUS	HOXD10	GJB6	SYT1	AEBP1	HADHB	GJB2	FBN1	HADHA
HP_IMPAIRED_EPINEPHRINE_INDUCED_PLATELET_AGGREGATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_EPINEPHRINE_INDUCED_PLATELET_AGGREGATION	THPO	PLAU	ITGB3	SH2B3	CALR
HP_PERIODIC_HYPOKALEMIC_PARESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIODIC_HYPOKALEMIC_PARESIS	KCNJ5	GABRA3	SLC4A1	CDH23	KCNJ18	CACNA1S	KCNJ2	SCN4A	KCNE3	CA2
HP_DECREASED_CIRCULATING_CORTISOL_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_CORTISOL_LEVEL	SUFU	CYP11A1	CYP17A1	ABCD1	POR	AAAS	SMARCE1	GATC	NF2	HSD3B2	GATB	GLI3	TXNRD2	NR0B1	NFKB2	BAP1	NNT	TRAF7	MC2R	TERT	PDGFB	SMO	TBX19	CYP11B1	PCSK1	MRAP	SMARCB1	STAR	AKT1	QRSL1	PIK3CA
HP_VERY_LONG_CHAIN_FATTY_ACID_ACCUMULATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERY_LONG_CHAIN_FATTY_ACID_ACCUMULATION	HSD17B4	PEX1	PEX12	PEX26	ABCD1	PEX14	PEX13	PEX19	PEX2	PEX11B	PEX10	PEX3	PEX6	ACBD5	PEX5	PEX16	PNPLA2
HP_REDUCED_FACTOR_VII_ACTIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_FACTOR_VII_ACTIVITY	AHCY	VKORC1	SLC37A4	F7	GGCX
HP_MILDLY_ELEVATED_CREATINE_KINASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MILDLY_ELEVATED_CREATINE_KINASE	ERGIC1	GABRA3	CRPPA	POLG	NEB	BIN1	TIA1	DNM2	KLHL41	POMT1	PLEKHG5	COL6A1	MATR3	TWNK	SQSTM1	MYH14	FKRP	COL6A2	KCNJ18	TFG	ADSS1	FKTN	HNRNPA1	VCP	COL6A3	MYPN	QRICH1	CACNA1S	KBTBD13	ACTA1	TTN	MSTO1	MT-TL2	MT-TN	ALG2	MYH7	FLNC	SCN4A	MYF6	DOK7	LMNA	UBA1	KCNE3	COL12A1	GNE	MICU1	MTMR14	MT-TE	MPV17	PEX6	MT-TL1	CHCHD10	TPM3	GFPT1	TRIP4	RYR1	HADH	TPM2	COL9A3	TRMU
HP_ABSENCE_OF_SECONDARY_SEX_CHARACTERISTICS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENCE_OF_SECONDARY_SEX_CHARACTERISTICS	GNRHR	KISS1	PROK2	TAC3	CYP11A1	CYP17A1	NSMF	GLI2	TACR3	CYB5A	KISS1R	DMRT3	DHX37	VAMP7	SRY	FGF17	PROP1	ZFPM2	POU1F1	NR0B1	LEPR	LEP	PROKR2	CHD7	ESR1	FGF8	GATA4	SOX9	POLA1	SOX3	WDR11	FOXA2	WT1	WWOX	MAP3K1	HS6ST1	FGFR1	LHX4	GNRH1	SPRY4	NR5A1	HESX1	DUSP6	OTX2
HP_THYROID_DYSGENESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THYROID_DYSGENESIS	KAT6B	NKX2-1	NKX2-5	PAX8	GLI3	LIFR
HP_THYROID_AGENESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THYROID_AGENESIS	NKX2-5	KAT6B	SLC26A4	NKX2-1	PAX8	TSHR	FOXE1
HP_PRIMARY_GONADAL_INSUFFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMARY_GONADAL_INSUFFICIENCY	GATA4	EIF2B1	EIF2B3	SOX9	EIF2B4	WT1	WWOX	MAP3K1	CYB5A	DMRT3	DHX37	VAMP7	WFS1	NSMCE2	SRY	ZFPM2	XRCC4	NR0B1	NR5A1	CYP17A1	EIF2B5	EIF2B2
HP_ABSENCE_OF_PUBERTAL_DEVELOPMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENCE_OF_PUBERTAL_DEVELOPMENT	GNRHR	KISS1	TACR3	PROK2	TAC3	CYP17A1	NSMF	SIM1	DCHS1	KISS1R	FAT4	ZMPSTE24	FGF17	NR0B1	PROKR2	CHD7	ESR1	FGF8	WDR11	HS6ST1	FGFR1	GNRH1	SPRY4	MAGEL2	LMNA	DUSP6	DHX37
HP_PRIMARY_HYPERPARATHYROIDISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMARY_HYPERPARATHYROIDISM	CDC73	AP2S1	CDKN2C	GCM2	YY1	GNA11	ARMC5	CASR	CDKN2B	MEN1	CDKN1B	CDKN1A	GNAS
HP_REDUCED_CIRCULATING_PROLACTIN_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_CIRCULATING_PROLACTIN_CONCENTRATION	PROP1	TRAF7	TERT	RBM28	SUFU	PDGFB	SMO	LHX4	SMARCE1	LHX3	SMARCB1	NF2	TRHR	GNAS	HESX1	AKT1	BAP1	IGSF1	POU1F1	PIK3CA
HP_PRIMARY_ADRENAL_INSUFFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMARY_ADRENAL_INSUFFICIENCY	HSD11B2	AIRE	PEX1	CYP11A1	ABCD1	PEX14	CYP17A1	SCNN1B	CYP11B2	GATB	GLI3	KANSL1	TXNRD2	NR0B1	PEX11B	PEX26	NNT	PEX2	PEX3	PEX6	NR3C2	TBX19	PEX13	PEX19	CYP11B1	PEX10	PCSK1	SMARCB1	STAR	MC2R	QRSL1	BAP1	PEX5	HSD17B4	PEX12	SUFU	POR	AAAS	SMARCE1	GATC	NF2	HSD3B2	NFKB2	PEX16	TRAF7	TERT	TCTN3	PDGFB	SMO	NR3C1	MRAP	MRPS7	AKT1	PIK3CA
HP_PARATHYROID_HYPERPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARATHYROID_HYPERPLASIA	CDKN2B	CDKN1B	RET	CDKN2C	CDKN1A	TSC1	MEN1	TSC2	KL
HP_PREMATURE_OVARIAN_INSUFFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_OVARIAN_INSUFFICIENCY	FASLG	EIF2B1	AIRE	EIF2B4	POLG	FOXL2	WDR19	POF1B	BMP15	SPIDR	FAS	HSF2BP	STAG3	BNC1	GALT	NBN	RCBTB1	PRKCD	DIAPH2	FMR1	SDCCAG8	POLR3H	TWNK	CEP164	RASGRP1	LMNA	B4GALNT1	DCAF17	C14orf39	ZFHX4	INVS	NPHP4	EIF2B5	PMM2	NPHP1	MCM8	PSMC3IP	GALK1	GGPS1	TTI2	FIGLA	MCM3AP	NUP107	NR5A1	LARS2	COL25A1	ERAL1	CASP10	XRCC2	EIF2B3	RIN2	POLG2	THOC6	FSHR	BLM	TRAF3IP1	HFM1	AARS2	ANAPC1	MRPS22	NPHP3	NOBOX	CEP290	EIF2B2	IQCB1
HP_GONADOTROPIN_DEFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GONADOTROPIN_DEFICIENCY	FGFR1	FSHB	NKX2-1	CHD7	LHX3	POMC	GLI3	KISS1R	SEMA3E	PCSK1
HP_ADRENAL_HYPERPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADRENAL_HYPERPLASIA	CYP17A1	PRKAR1A	PRKACA	PDE11A	HSD3B2	POR	ARMC5	KCNJ5	CDH23	AIRE	CYP11B2	CYP11B1	GNAS	PDE8B	USP8	CACNA1D	TBC1D24	NR3C1	CYP21A2	STAR	CLCN2	ATP6V1B2
HP_FEMALE_INFERTILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEMALE_INFERTILITY	HYDIN	TUBB8	PANX1	ZMYND10	DRC1	HSF2BP	ASTL	DNAI1	CCDC40	RSPH3	MCIDAS	FOXL2	DNAH5	REC114	STK36	GAS2L2	CCDC103	DNAAF11	CFAP300	C11orf80	DNAAF2	SPAG1	ODAD1	DNAL1	TTC12	CCDC39	CCNO	RSPH9	ODAD2	TRIP13	CFAP298	DNAAF1	FOXJ1	PGR	NEK10	DNAAF4	ODAD3	ODAD4	DNAAF5	LRRC56	GGPS1	GAS8	RPGR	RSPH4A	FIGLA	RSPH1	ZP2	DNAAF3	DNAH9	CYP19A1	PATL2	TLE6	CCDC65	DNAJB13	OFD1	WEE2	DNAH11	NME8	DNAI2	CFAP221	SPEF2	DNAH1	DNAAF6	BTG4
HP_COMPENSATED_HYPOTHYROIDISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMPENSATED_HYPOTHYROIDISM	TREX1	NKX2-1	FOXI1	TG	KCNJ10	TANGO2	TSHR	SLC26A4
HP_ELEVATED_CIRCULATING_FOLLICLE_STIMULATING_HORMONE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CIRCULATING_FOLLICLE_STIMULATING_HORMONE_LEVEL	FGD1	NSMCE2	CNBP	CYP11A1	CYP17A1	MCM8	ESR2	SPIDR	POR	CYB5A	CBX2	DMRT3	FANCM	DHX37	ERCC6	VAMP7	FIGLA	SRY	ZFPM2	NR5A1	NR0B1	KISS1R	XRCC2	GATA4	SOX9	PPP2R3C	BNC1	WT1	WWOX	MAP3K1	FOXL2	C14orf39	AR	GDF9
HP_DECREASED_CIRCULATING_PROGESTERONE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_PROGESTERONE	EIF2B1	EIF2B3	EIF2B4	POR	EIF2B5	FOXL2	EIF2B2
HP_HYPOTHALAMIC_HYPOTHYROIDISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOTHALAMIC_HYPOTHYROIDISM	TRAF7	TERT	SUFU	PDGFB	SMO	SMARCE1	SMARCB1	NF2	TRH	AKT1	BAP1	PIK3CA
HP_SECONDARY_GROWTH_HORMONE_DEFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SECONDARY_GROWTH_HORMONE_DEFICIENCY	CDH23	TRAF7	TERT	SUFU	PDGFB	SMO	MEN1	SMARCE1	SMARCB1	NF2	AIP	AKT1	BAP1	GLI3	PIK3CA
HP_PSEUDOHYPOALDOSTERONISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSEUDOHYPOALDOSTERONISM	SCNN1B	SCNN1G	CUL3	NR3C2	WNK1	KLHL3	WNK4	SCNN1A
HP_PITUITARY_HYPOTHYROIDISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PITUITARY_HYPOTHYROIDISM	PROP1	TMEM67	SUFU	GLI2	LHX4	MEN1	SMARCE1	LEPR	LHX3	PCSK1	NF2	POU1F1	TRHR	HESX1	CTNNB1	BAP1	LEP	BRAF	TSHB	POMC	CDH23	POU3F4	TRAF7	TERT	RBM28	SOX3	FOXA2	PDGFB	SMO	SMARCB1	AIP	ARNT2	AKT1	OTX2	GLI3	PIK3CA
HP_TRANSIENT_NEONATAL_DIABETES_MELLITUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRANSIENT_NEONATAL_DIABETES_MELLITUS	ZFP57	HYMAI	ABCC8	KCNJ11	KLF11	GCK	HNF4A	BLK	PAX4	NEUROD1	APPL1	PDX1	CEL	PLAGL1	HNF1A	INS
HP_ADRENOCORTICAL_ADENOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADRENOCORTICAL_ADENOMA	CACNA1S	APC	SCN4A	CYP11B2	CDKN1B	MEN1	CYP11B1	CLCN2	KCNE3
HP_CONGENITAL_ADRENAL_HYPERPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_ADRENAL_HYPERPLASIA	HSD3B2	CYP17A1	STAR	POR	CYP11B1
HP_PANCREATIC_ISLET_CELL_ADENOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATIC_ISLET_CELL_ADENOMA	CDKN2B	MAFA	KCNJ11	CDKN1B	CDKN2C	VHL	CDKN1A	MEN1
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	TPO	DUOX2	DUOXA2	IYD	TG	SLC5A5
HP_ABNORMAL_LIGHT_ADAPTED_ELECTRORETINOGRAM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LIGHT_ADAPTED_ELECTRORETINOGRAM	GNAT2	KIF3B	PDE6H	CNGA3	PDE6C	RPGR	CNGB3	ATF6	OPN1SW
HP_ABNORMAL_BLOOD_ZINC_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_ZINC_CONCENTRATION	SLC39A8	COL7A1	IARS1	SLC7A7	MMP1	SLC30A2
HP_CEREBELLAR_CORTICAL_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBELLAR_CORTICAL_ATROPHY	PLAA	SIL1	SHANK3	SC5D	ZPR1
HP_UNCONJUGATED_HYPERBILIRUBINEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNCONJUGATED_HYPERBILIRUBINEMIA	UGT1A1	PKLR	SLC30A10	UROS	GATA1	FARSB	HBB	SLC10A1	PIGA	RHAG	CASK	G6PD
HP_FASTING_HYPERINSULINEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FASTING_HYPERINSULINEMIA	INSR	CDKN1B	HADH	YY1	PAPPA2	MEN1	LMNA	GCK	GLUD1
HP_PITUITARY_CORTICOTROPIC_CELL_ADENOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PITUITARY_CORTICOTROPIC_CELL_ADENOMA	CDKN2B	CDH23	CDKN1B	CDKN2C	CDKN1A	MEN1	USP8
HP_EXERCISE_INDUCED_MYOGLOBINURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXERCISE_INDUCED_MYOGLOBINURIA	ACADVL	MT-CO3	PYGM	MT-CO1	LPIN1	PHKA1	FKRP	CRPPA	PGK1	PFKM	LDHA
HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_II	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_II	SDHA	NFS1	SLC39A8	IBA57	ISCU	SDHB	MIEF2	SDHD
HP_ABNORMAL_MITOCHONDRIA_IN_MUSCLE_TISSUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MITOCHONDRIA_IN_MUSCLE_TISSUE	NDUFB3	NDUFA1	MT-ND6	NDUFB9	NDUFAF5	NDUFS8	NDUFS3	NDUFAF4	NDUFB11	NDUFV1	MT-TF	FOXRED1	AFG3L2	NDUFA11	MT-ND3	NDUFS2	MT-TS2	NDUFS4	NDUFB10	MT-TW	MT-CO3	NDUFS7	NDUFV2	NDUFA6	MT-TL2	MT-TN	MYH7	MT-CO2	MT-TH	TMEM126B	SDHA	NDUFS6	MT-ND1	MT-TL1	MT-CO1	NDUFAF1	TIMMDC1	NDUFAF2	NDUFAF8	MT-ND4	MT-ND5	NDUFAF3	MT-TQ	NDUFS1	NUBPL	MT-ND2
HP_IMPAIRED_COLLAGEN_INDUCED_PLATELET_AGGREGATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_COLLAGEN_INDUCED_PLATELET_AGGREGATION	BLOC1S5	THPO	CISD2	IKZF5	NBEAL2	ITGB3	LCP2	SH2B3	CALR
HP_ABNORMAL_MITOCHONDRIAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MITOCHONDRIAL_MORPHOLOGY	PET117	TBK1	MFF	MRPS14	TAFAZZIN	SQSTM1	CHCHD10	MGME1	HSD17B10	POLG2	C9orf72	FDXR	GYG1	GGPS1	MYH14	SUCLG1	SLC25A3	SPG7	DNA2	VCP	TARDBP	FUS
HP_ABNORMAL_LIGHT_AND_DARK_ADAPTED_ELECTRORETINOGRAM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LIGHT_AND_DARK_ADAPTED_ELECTRORETINOGRAM	IDS	RP9	TTC8	CACNA1F	MCOLN1	ALG3	PRPH2	SAG	RPGRIP1	PPT1	USP45	ACOX1	ZNF513	POMGNT1	RP1	CLRN1	CYP4V2	MT-ATP6	ADAR	RHO	LRAT	MFRP	NR2E3	PDE6B	RPE65	RDH5	RLBP1	RGR	LARGE1	IDH3B	IMPDH1	BEST1	PCYT1A	GUCY2D	PROM1	CERKL	AIPL1	NUP62
HP_ELEVATED_CREATINE_KINASE_AFTER_EXERCISE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CREATINE_KINASE_AFTER_EXERCISE	RYR1	CACNA1S	DPM3	ACAD9	SLC25A20	DNA2	ALDOA	LDHA
HP_DISTAL_RENAL_TUBULAR_ACIDOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_RENAL_TUBULAR_ACIDOSIS	SLC4A1	ATP6V0A4	GATA3	CA2	HNF1B	FN1
HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_IV	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_IV	TSFM	MRPS14	COX5A	CARS2	MRM2	SLC25A4	GFM1	NDUFA4	SLC25A26	SUCLG1	GATC	COX6A2	EARS2	MRPL12	COX16	COA3	GTPBP3	PET117	SLC39A8	COA6	COA8	MRPS25	COX20	COX4I1	LRPPRC	PET100	MIEF2	QRSL1	MRPS23	TIMM22
HP_REDUCED_FACTOR_XIII_ACTIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_FACTOR_XIII_ACTIVITY	MAP2K1	BRAF	SLC37A4	F13A1	PTPN11	F13B
HP_APLASIA_HYPOPLASIA_OF_THE_HALLUX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_HALLUX	PIGG	GPC4	NTNG2	SRCAP	ZMIZ1	FGFR2	CPLX1	FGFRL1	TRMT1	ABCC9	SATB1	KDM4B	FIG4	PTHLH	SLC12A2	PSMD12	CHSY1	CTBP1	MED13	DOCK3	MED27	CLCN3	HTT	NELFA	UBR7	KMT2E	VAC14	PUF60	MGP	FLNA	LETM1	GRIA4	HPDL	SALL4	NSD2	BMPR1B	ACTL6B	CHST11	TNRC6B	KAT6A	MYT1L	EMC10	LMBRD2	DPYSL5	TCF7L2	TANC2	PUS7	PTPN23	BHLHA9	HOXD13	GDF5	TRIP12	SVBP	DDX6	SYNCRIP	BCAS3	KCNJ8	FGFR1	MADD	MAPK8IP3	KCNMA1	PALS1	AGO2	HOXA13	GJA1	NOG	IHH	FBXW11	WDFY3	RNF2	WASF1	ACTL6A	BMP2	BPTF	NTNG1	TCF20	SPTBN1	CNOT3	HUWE1	BCORL1	RLIM	KAT8	ACVR1	SETD1A	TRAPPC4	CCDC32	GLI3	JARID2	HS2ST1	ANKRD17
HP_ABNORMALITY_OF_THE_CALCANEUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CALCANEUS	HDAC6	RTL1	PHGDH	EZH2	FLNA	HADHB	GJB2	FLNB	DLK1	HOXD10	CCDC8	KANSL1	ATP6AP2	RSPRY1	MEG3	GFM2	COL1A2	TPM2	ZEB2	OBSL1	DYM	HADHA	GJB6	LBR	SYT1	AEBP1	ECEL1	ADAMTSL1	COL2A1	FBN1	SATB2	TNNI2
HP_ABNORMAL_TALUS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TALUS_MORPHOLOGY	ERGIC1	MYH3	PHGDH	MAF	PLAA	EMG1	POR	ADAT3	CUL7	HOXD10	CLTCL1	FGFR2	SAMD9	TPM2	PEX1	LMNA	CCDC8	ERCC6	ZMPSTE24	TOR1A	RELN	NUP188	IPO8	ERCC5	NALCN	VAC14	KATNB1	PUF60	PSAT1	RBM10	PHEX	FLNA	SMPD4	SCYL2	MYLPF	TELO2	MYBPC1	ERCC1	CHRNG	DOK7	TNNT3	RSPRY1	OTUD5	OBSL1	WRN	EPB41L1	MUSK	SLC29A3	ERCC2	TNNI2	KIF14	NUP88	EXOC7	MAGEL2	EN1	ARID1B	SLC2A10	NDE1	FIG4	ZC4H2	GLE1
HP_CONTRACTURES_INVOLVING_THE_JOINTS_OF_THE_FEET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONTRACTURES_INVOLVING_THE_JOINTS_OF_THE_FEET	MYH3	COL12A1	TBC1D2B	TGFB3	IRF5	SLC25A4	CRPPA	ALS2	ADAT3	PYROXD1	TMEM43	MT-TE	ERLIN2	GLI3	POMT1	CCR6	PLEC	BCAS3	FHL1	SGCG	NSUN2	LMNA	OPA1	DDHD2	ACTA1	BCOR	MYOT	KIAA0319L	FKRP	HSPG2	KY	FKTN	NGLY1	LARGE1	PHF6	HRAS	PPP2R5D	ERCC8	DSP	CAV1	FBN1	JUP	PSMB8	TTN	ABHD12	IPO8	AMER1	SYNE1	BICD2	SGCA	EMD	MMP2	LIFR	LMX1B	JAG2	MYLPF	SCARF2	ERCC6	MYBPC1	COL6A1	HLA-DRB1	FLNA	ERCC1	CHRNG	NT5C2	PIGN	KCNK9	SLC29A3	EIF5A	GJB1	SYNE2	FGFR3	ERCC4	PIEZO2	BRF1	COL6A2	COL6A3	PTRH2	CCN2	HINT1	NOD2	ZC4H2
HP_TARSAL_SYNOSTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TARSAL_SYNOSTOSIS	FLNA	OFD1	BMPR1B	FGFR3	TPM2	MYH3	POR	GDF5	GDF6	TNNI2	NOG	NALCN	FLNB	MKKS	TBX4	CHSY1	MAP3K7	LMBR1	FBLN1	FGFR1	FGFR2	TNNT3	ATP7A	SMOC1	GLI3
HP_ABNORMAL_TARSAL_OSSIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TARSAL_OSSIFICATION	CANT1	HOXA13	INPPL1	SLC35D1	EBP	EIF2AK3	MATN3	PTH1R	COL2A1
HP_ABNORMALITY_OF_VITAMIN_A_METABOLISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_VITAMIN_A_METABOLISM	DNAJC21	BCO1	EFL1	MTTP	MST1	FARSB	SEMA4D	SLC51B	SRP54	TCF4	DZIP1L	SBDS	GPR35	CYP7A1	PKHD1
HP_PUBERTY_AND_GONADAL_DISORDERS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PUBERTY_AND_GONADAL_DISORDERS	LMNA	PROM1	NTNG2	MECP2	LHX4	LZTFL1	CDKN1C	CCDC28B	DLK1	NDN	STUB1	ABCD1	BMP15	RRAS	TXNRD2	FREM1	HRAS	BBS4	RIT1	FANCC	SNRPN	ENTPD1	EXT2	DCAF17	TSC2	IGFALS	CYP21A2	MED27	EIF4H	TP53	TGFB1	DNAL4	AIP	FANCF	SIX3	ERCC4	FANCD2	ERCC2	PTCH1	KRAS	SMARCE1	POLR3A	HSD3B2	BBS5	XRCC4	PYGL	LRP5	RPL10	BRCC3	MT-CO1	TRAF7	TSC1	CEP290	WT1	CEP19	MT-ND1	LRAT	FGFR1	POLR1C	EMC10	PHF21A	SLC7A14	PCARE	CNTNAP2	SMC3	SEMA3E	LHB	PTPN23	GNRHR	DUSP6	BBS7	TRIP12	CYP17A1	DHH	GMNN	NTN1	HGSNAT	SOX2	ERCC1	MEG3	CENPT	CTNNB1	MAD2L2	FANCA	MT-TF	HS6ST1	KMT2C	SCP2	FANCB	NODAL	SPTBN1	STIL	CDON	KDM6A	FBXW11	WDFY3	ALMS1	IDH1	RAB3GAP1	TCF20	NSMF	MAGEL2	KCNA1	PSMC3IP	RTL1	TONSL	CRX	CLPP	FLI1	BCORL1	RLIM	ESR1	MT-TL1	TERT	FGF8	METTL27	NPAP1	PDGFB	DHCR7	SOX10	CREBBP	ARL6	PTRH2	RAB3GAP2	TGIF1	TRIP4	STS	MYT1L	HBB	OCA2	GUCA1B	PIK3CA	GLI2	AIRE	SPEN	CERKL	SPIDR	RP1L1	RAD21	TRIM32	PNPLA6	INSR	ZFPM2	NLRP3	DCC	GLI3	NR0B1	GNAS	VPS4A	ELN	VPS13B	GBA	FSHB	TDGF1	ATAD3A	KMT2E	TACR3	SLC25A13	FKBP6	BMPR1B	HSD17B3	BRD4	HPDL	AGBL5	MKKS	RAI1	RRM2B	POLA1	SPRY4	WWOX	BUD23	ANAPC1	PMM2	FANCE	MSL3	PRCD	ALG6	DNAJC30	PUS1	TCF7L2	RNU4ATAC	TFR2	PNKP	PUS7	HDAC8	CYP11A1	SIL1	DISP1	SYNCRIP	SCN1B	VPS37D	DEAF1	H6PD	AGO2	DHDDS	ARL2BP	PTDSS1	PHF6	NNT	ERCC8	TP63	TFE3	SALL1	SNORD115-1	SLC29A3	SHH	KISS1	EP300	HYMAI	CYB5A	PROK2	ERCC6	AR	XRCC2	PLXND1	RNF216	KAT8	GLA	SEMA4A	SETD1A	LEP	GJB2	BRCA1	PRPF31	LGR4	IDH2	POLR3GL	PTPN11	MT-ND6	PROKR2	PRPF3	FGF17	CPE	KDM4B	G6PC1	STAT5B	IFT140	RAF1	CTBP1	RP1	NSMCE2	LIG3	ANTXR1	PRKAR1A	MT-TW	FGD1	GAS1	PRKCZ	DCHS1	TBX3	DDX3X	CTDP1	CDKL5	STEAP3	BCS1L	RIN2	MAP3K1	NECTIN1	TNRC6B	WDR11	MKRN3	CUL4B	MAMLD1	GHR	PIGT	TWNK	EIF2B2	SRY	IFT88	FAM161A	XPA	HLA-DQA1	SLC12A3	SLC37A4	CBX2	PALB2	KCNAB2	PDE6A	PPP1R15B	PIGQ	AGPAT2	KLHL7	DHX38	STAT3	FANCG	MKS1	OCRL	ZMPSTE24	PCSK1	SMARCB1	SOS1	ACTL6A	ROM1	ARX	NF1	MT-CO3	RDH12	SUFU	PDPN	PHKA2	MAP3K7	PRPF6	LEPR	NUP107	NR5A1	NRAS	SOS2	FSHR	GNRH1	ALX4	MRPS22	XPC	SNRNP200	HS2ST1	ANKRD17	PDE4D	SRCAP	HSPG2	CPLX1	AXL	PROP1	SMPD1	SATB1	AHSG	AMACR	NIPBL	DDB2	USP7	SNAP29	CYP11B1	PRLR	MT-TS2	CAV1	RBP3	PHGDH	SLX4	PRPH2	SAG	POU1F1	BAZ1B	BAP1	ATM	FMR1	RHO	COQ2	SCAPER	INPP5K	BEST1	RRAS2	RBM28	TRAF3IP1	MT-ND5	MERTK	MRAP	BBS10	GPR101	MEN1	FEZF1	SVBP	FOS	YARS2	POLG	DMRT3	ZNF513	HERC2	UBE2T	HESX1	RP9	BRAF	BBIP1	FSCN2	TTC8	ERCC3	BBS2	HACE1	WDPCP	ASXL3	SLC35A2	WASF1	ANOS1	TANGO2	SOX9	CLRN1	HLA-DQB1	FOXH1	TULP1	RFWD3	PEX1	CRB1	EIF2B3	MC2R	IQSEC2	CLIP2	CBL	GTF2IRD1	IGF1	POF1B	ZMIZ1	OPA1	TRMT1	POLR3K	RAD51	KANSL1	ITGB6	DNM1L	KIZ	PREPL	GTF2I	NEK2	SOX3	SCN2A	NCF1	DOCK3	FOXL2	WFS1	SDCCAG8	IMPG1	IFT27	ALG1	GALK1	MT-TH	LPIN2	NDNF	POMC	CHD7	IFT74	ACTL6B	POMGNT1	STAT1	EIF2S3	GALT	CLCNKB	FANCL	POLR3B	DPYSL5	GNAO1	PHKG2	REEP6	CAVIN1	BNC1	SGPL1	MAPK8IP3	MRAS	KCNMA1	ABCA4	BCL7B	MYH3	SLC3A1	NDP	BPTF	OTX2	SPATA7	POLD1	LHCGR	ARSL	POR	PTCH2	PPM1B	MT-CO2	FLRT3	ATRX	PRDM16	ZIC2	TAC3	RAB18	IFNG	HSD11B1	NSD2	TAF13	EHMT1	CCDC32	FANCI	STAR	SMC1A	CNGB1	EIF2B1	SCARB2	EIF2B4	DMPK	PIGF	VAMP7	RERE	MRE11	CISD2	IFT172	ZNF408	LSS	CA4	SMCHD1	SLC12A2	RFC2	PDE6G	UBR7	DHX37	EIF2B5	HJV	SPRED2	GRIA4	BMP4	IMPG2	RGR	ERCC5	CDHR1	HFE	CDH23	PLAGL1	CCDC141	DMXL2	SIK1	NONO	OFD1	REV3L	ZBTB20	RAD51C	EYS	GRM7	PRPF8	KISS1R	PCNT	SLC39A4	CNBP	BMP2	FLII	ARHGEF18	CASK	PTH1R	BTK	TUB	HAMP	PDE6B	CFAP418	RNF2	NTNG1	CHRNG	PAPSS2	BSCL2	CNOT3	GHSR	MDM2	BRCA2	CYP19A1	MT-ND4	NR3C1	SNORD116-1	MLXIPL	USH2A	NEUROD2	SMAD4	MGME1	DMRT1	PSMD12	MED13	NR2E3	RP2	LIMK1	CAMKMT	BBS12	CLCN3	IMPDH1	BBS9	IER3IP1	KMT2D	ALDOA	NF2	SIX6	UBE4B	WRN	PPARG	AHR	FOXA2	SMO	NOTCH2	BBS1	AKT1	TANC2	MAB21L2	IDH3B	DDX6	LHX3	BCAS3	SEMA3A	MADD	SAMD9	PGM1	PALS1	TBC1D20	GPR161	MMP23B	MIA3	RPE65	COL7A1	IL17RD	STK11	DACT1	NRL	IDH3A	LAS1L	TYMP	TBL2	SRA1	PWAR1	TOPORS	FAM111B	ROBO1	RASA2	FANCM	TRIM8	FGFRL1	FAT4	ANK1	DYRK1A	GATA4	TMEM270	BRIP1	POLR3H	RECQL4	SOX6	HTT	SIM1	STX1A	MAK	KIAA1549	MMP1	RAB23	RPGR	ARL3	CASZ1	USP9X	CNGA1	LMBRD2	LZTR1	GTF2IRD2	DLL1	MSMO1	TRMT10A	LETM1	MAP2K1	LUZP1	PWRN1	MMP2	CTNS	POLE	PEX6	CARS1	GABRD	SKI	PRPF4	MMP14	HUWE1	NPHP1	EIF5A	RLBP1	PIGP	TRAPPC4	SLC25A22	NFIX	MT-TQ	MRPS7	JARID2	AHI1
HP_NASAL_DYSARTHIC_SPEECH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NASAL_DYSARTHIC_SPEECH	GIPC1	NOTCH2NLC	GRHL3	SELENOI	UBB
HP_APLASIA_HYPOPLASIA_OF_THE_NAILS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_NAILS	RERE	EOGT	MLXIPL	MSX1	DKC1	EED	FLNB	ARID2	NEUROD2	RIPK4	GPC3	CKAP2L	MCTP2	FIG4	EVC	GTF2I	SCN2A	TBC1D24	APC	EZH2	NCF1	ATP2A2	LAMA3	LIMK1	KDM1A	DOCK6	PLEC	EIF4H	IGF2	COL11A2	PIGW	TFAP2A	LAMC2	ERCC3	VAC14	GPC4	ALOX12B	MPLKIP	LAMB3	ALG12	ODC1	POP1	TBX3	ZMPSTE24	ARHGAP31	TP63	CDKL5	CCDC32	COL17A1	KCNH1	SMARCA4	CTC1	EVC2	PIGL	GRHL2	GTF2E2	LMNA	COL7A1	SUZ12	GLI1	FGFR2	ACTG2	NHP2	CRKL	HUWE1	ERCC2	NSD1	GNAO1	CDKN1C	PLAG1	SLC25A24	NOP10	DSP	SOX4	SMARCB1	GJB6	CENPT	SETD2	SMARCC2	NPM1	PIGQ	ATP6V1B2	SHANK3	WDR73	PIGV	BCL7B	ARID1A	B3GALT6	WASHC5	NPR2	PPM1D	WNT7A	DYNC2LI1	DHX37	SHOC2	KCNN3	POLR3A	RTEL1	ARX	KIF15	NEPRO	SHOX	SOX11	KCNA1	GTF2H5	NOTCH1	SMARCE1	TARS1	TELO2	NSUN2	ARID1B	IFT43	RAF1	MAPK1	PIGN	PORCN	METTL27	TBL2	NOG	TSPAN7	RSPO1	STAMBP	ALOXE3	COL11A1	PARN	FTO	RTL1	APC2	SPEN	ALG3	TRIM8	PIGF	WNT10A	SLC35D1	TRRAP	ELN	DPYD	DLL4	DPH1	USB1	TMEM270	NECTIN4	RFC2	IHH	PPP2R5D	DPF2	INPPL1	ITGA6	SMARCAD1	LIG4	OFD1	PGAP3	CPT2	PRR12	BICRA	FKBP6	PIGB	CDH1	STX1A	DNAJC21	HMGA2	SMARCD1	PGAP2	BAZ1B	OTUD5	MMP1	MEG3	RNF113A	CDIN1	PLAGL1	NOTCH2	TCTN3	KRT14	SIK1	GDF5	BUD23	TERC	LBR	ZBTB20	DNAJC30	MBTPS2	RSPO4	GRM7	ACTL6B	TBX4	ATP6V0A2	ROR2	PNKP	IFT122	DMXL2	BCR	SIAH1	GTF2IRD2	CCDC22	CASK	SCN1B	PIGO	VPS37D	POC1A	ITGB4	LMX1B	HRAS	HEPHL1	PPP1CB	FGFR1	PTDSS1	IKBKG	SMARCA2	JUP	BMPER	ZNF462	HOXA13	ZMYM2	HYMAI	TMEM222	PIGA	RLIM	DLK1	TINF2	WRAP53	PIGY	TERT	BHLHA9	EIF5A	PIGP	CLIP2	RBPJ	SLC25A22	AFF4	GTF2IRD1	RPS6KA3	LRP4	CWC27	ADAMTSL2
HP_ABNORMAL_TOENAIL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TOENAIL_MORPHOLOGY	EOGT	MLXIPL	GPC4	DKC1	PERP	PIGF	KRT14	SLC35D1	ARID2	EDAR	IFT122	CKAP2L	AIP	ELN	WNT10A	DLL4	DPH1	RIPK4	USB1	EVC	TMEM270	GTF2I	FERMT1	TBC1D24	APC	EZH2	NCF1	IL17RA	ATP6V1B2	RAB3GAP2	NECTIN4	MSX1	KCNH1	RFC2	GJC2	CLEC7A	PPP2R5D	LIMK1	KDM1A	DPF2	EIF4H	INPPL1	RUNX2	ZSWIM6	LIG4	CPT2	FKBP6	ODC1	STX1A	TBX3	UMPS	ZMPSTE24	SMARCD1	DOCK6	BAZ1B	SMARCA4	RETREG1	IL17RC	CTC1	PLCD1	EVC2	COL7A1	NECTIN1	SUZ12	GLI1	TCTN3	GDF5	BUD23	TERC	IL17F	CRKL	LBR	LMNA	DNAJC30	TBX4	GPR101	FLT4	BCR	GTF2IRD2	COL11A1	TP63	SOX18	SOX4	WNK1	EED	SMARCB1	ARHGAP31	NOP10	VPS37D	SMARCC2	NPM1	SCN9A	SHANK3	SOX11	BMP2	BCL7B	ARID1A	HRAS	PPP1CB	KLHL24	FGFR1	IKBKG	NOG	IFT52	SMARCA2	DSP	DYNC2LI1	JUP	SHOC2	KIF11	RTEL1	HOXA13	PEX6	ZMYM2	SHOX	KRT74	EDARADD	COL17A1	VEGFC	LMX1B	NOTCH1	SMARCE1	KIF1A	TELO2	NSD1	NSUN2	ARID1B	TINF2	WDR35	WRAP53	TAF1	PEX1	MAPK1	RAB7A	TERT	WDR19	BHLHA9	RAB3GAP1	PORCN	EIF5A	METTL27	CSTB	TBL2	CLIP2	KCNN3	KRT5	RBPJ	AFF4	GTF2IRD1	NHP2	TRAF3IP2	PARN	GJB2	LRP4	WNT7A	ITGB4	IFT43
HP_DYSTROPHIC_FINGERNAILS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSTROPHIC_FINGERNAILS	COL7A1	HLA-B	MPLKIP	KRT74	STAT3	COL17A1	ZBTB20	GTF2H5	WNK1	KIF1A	TARS1	ZMPSTE24	SCN9A	RETREG1	PKP1	WNT10A	RNF113A	MAP2K1	KRAS	GTF2E2	NECTIN1	ERCC2	LMNA	MAP2K2	MBTPS2	HPGD	RUNX2	ERCC3	ITGB4	BRAF
HP_SUBUNGUAL_HYPERKERATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBUNGUAL_HYPERKERATOSIS	KRT17	MBTPS2	KRT14	CARD14	TRPV3
HP_HYPOPLASTIC_FIFTH_FINGERNAIL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_FIFTH_FINGERNAIL	SOX11	PIGF	SOX4	ARID1A	SMARCE1	SMARCB1	ARID2	ARID1B	DPF2	SMARCD1	SMARCC2	SMARCA4
HP_ONYCHOGRYPOSIS_OF_TOENAILS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ONYCHOGRYPOSIS_OF_TOENAILS	KRT17	COL7A1	KLHL24	KRT16	KRT6A	PLEC	KRT6B
HP_RIDGED_FINGERNAIL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIDGED_FINGERNAIL	EFNB1	DVL1	MSX1	WNT5A	FZD2	TINF2	SLC39A4	IKBKG	DVL3
HP_NAIL_DYSTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NAIL_DYSTROPHY	PLEC	TERC	DKC1	ITGB4	PERP	RTEL1	STING1	KRT14	TINF2	TGM1	ACD	SASH1	EVC	ATP2A2	MBTPS2	LAMA3	KRT5	TERT	GSN	RUNX2	ABCA1	CSTA	LAMC2	ERCC3	KRT6B	MPLKIP	LAMB3	KRT6A	TP63	ZMPSTE24	MMP1	DSP	COL17A1	NFKB2	CTC1	GRHL2	GTF2E2	EVC2	COL7A1	NECTIN1	FOXN1	NHP2	CTSC	LMNA	PARN	ERCC2	HPGD	ITGA6	BRAF	STAT3	NOP10	GJB6	NPM1	SREBF1	PKP1	ATP6V1B2	TNFRSF1B	KLHL24	KRT83	DSG1	AP1S3	TRPV3	KRT86	KDF1	KIF15	FLNA	GTF2H5	GJB2	KIF1A	TARS1	KRT85	SMARCE1	RAB7A	PORCN	NOTCH1	RSPO1	PQBP1	ANAPC1	IKBKG	AIRE	KRT81	WNT10A	USB1	KRT17	MAP2K1	JUP	RECQL4	KRT1	SMARCAD1	COL14A1	ZBTB20	DNAJC21	CD28	ATL1	RETREG1	MVK	RNF113A	KRAS	AAGAB	UBE2A	POMP	NLRP1	KRT16	FOXP3	ITGA3	CTLA4	HLA-B	WRAP53	GJA1	WNK1	MTX2	TTC7A	MAF	SCN9A	DST	BANF1	HOXC13	IL36RN	MAP2K2	CD151	NTRK1	KRT74	LORICRIN
HP_VERTEBRAL_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERTEBRAL_HYPOPLASIA	FLNB	COL2A1	RINT1	TNFRSF11A	COL11A1	VANGL1	SLC35D1	DDRGK1	SOX9	SOX2	SLC26A2	SIX6	INPPL1	CSPP1	TRPV4	TCIRG1	RPS19	KIAA0586	SUMF1	CLCN3	ARSL	EBP	NOTCH2	SLC29A3	FN1	GLB1	NSDHL	LBR	PDE4D	PRKAR1A	ACVR1	FUZ	POLR3A
HP_VERTEBRAL_WEDGING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERTEBRAL_WEDGING	BGN	TRPV4	COL2A1	SUFU	ARSB	PTCH1	MBTPS2	SEC23A	PTCH2	FANCC	FKBP10	CCN6	CANT1	NPR2	FN1	IFITM5	IFT43
HP_VERTEBRAL_CLEFTING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERTEBRAL_CLEFTING	FLNB	CHST3	COL2A1	MESP2	PEX7	SC5D	SOX5	SLC26A2	ALG12	RAD21	COL11A2	KDM6A	LONP1	RIPPLY2	SOX2	SIX6	CHRNG	OTUD5	CSGALNACT1	SLC10A7	COG1	HSPG2	WBP11	KMT2D	TRPV4	ARSL	TBX6	ALPL	FOXF1	STAG2	HSPA9	IPO8	HAAO	TRIP11
HP_HYPOPLASTIC_CERVICAL_VERTEBRAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_CERVICAL_VERTEBRAE	SLC26A2	ARSL	EBP	TRPV4	FLNB	SOX9
HP_VERTEBRAL_ARCH_ANOMALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERTEBRAL_ARCH_ANOMALY	CHST3	KIF22	SMAD4	NPR2	RNU4ATAC	ANKRD11	DDRGK1	TONSL	PDE4D	LTBP3	PRKAR1A	JAG1	GNPTAB	RMRP
HP_C1_C2_VERTEBRAL_ABNORMALITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_C1_C2_VERTEBRAL_ABNORMALITY	FN1	COL2A1	IDUA	SKI	MMP2	ARSL	MADD	DDR2
HP_SPINAL_DEFORMITIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPINAL_DEFORMITIES	POMT2	FKRP	SLC25A1	SYT2	MYO9A	EXT1	AGRN	SLC5A7	EXT2	GDAP1	CHAT	MGME1	SLC18A3	VAMP1	POMT1	SNAP25	EBP	COL13A1	SH3TC2	LARGE1	GMPPB	SNX14	GNE
HP_CERVICAL_SPINAL_CANAL_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVICAL_SPINAL_CANAL_STENOSIS	KIAA0586	KANSL1	ARSL	CSPP1	PHF6	EXTL3	FGFR3	IARS2
HP_NARROW_VERTEBRAL_INTERPEDICULAR_DISTANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_VERTEBRAL_INTERPEDICULAR_DISTANCE	CHST3	KIF22	NPR2	DDRGK1	TONSL	PDE4D	LTBP3	PRKAR1A	GNPTAB	RMRP
HP_LUMBAR_KYPHOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LUMBAR_KYPHOSIS	RPS6KA3	VPS33A	FGFR3	COL2A1	ATG7	POLR3GL
HP_HYPOPLASTIC_VERTEBRAL_BODIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_VERTEBRAL_BODIES	KIAA0586	SUMF1	RINT1	TNFRSF11A	VANGL1	SLC35D1	SLC29A3	GLB1	LBR	PDE4D	INPPL1	PRKAR1A	ACVR1	CSPP1	TCIRG1	FUZ	POLR3A
HP_ASYMMETRY_OF_SPINAL_FACET_JOINTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASYMMETRY_OF_SPINAL_FACET_JOINTS	TBXT	VANGL2	CCL2	VANGL1	FUZ
HP_INFERIOR_LENS_SUBLUXATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFERIOR_LENS_SUBLUXATION	GNAQ	BAP1	CYSLTR2	GNA11	SF3B1
HP_MULTIPLE_ROWS_OF_EYELASHES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_ROWS_OF_EYELASHES	PRR12	FOXC2	CTNND1	HSPG2	CDH1	YARS2	PUS1	TWIST2
HP_CONGENITAL_CRANIOFACIAL_DYSOSTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_CRANIOFACIAL_DYSOSTOSIS	PDE4D	PRKAR1A	ALX4	SLC25A24	MSX2
HP_HIGH_HYPERMETROPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_HYPERMETROPIA	ARSG	FGF3	MLXIPL	GTF2IRD2	HSPG2	CIB2	SPEN	RERE	IFT122	SMAD4	KCNAB2	TUBB4B	VPS37D	CSTA	RAI1	ELN	TAOK1	BCL7B	TMEM270	GTF2I	CRB1	LUZP1	NCF1	RFC2	GJA1	IFT52	LCA5	NMNAT1	LIMK1	TMEM98	EIF4H	MT-TS2	ALDH1A3	MMP23B	SIX6	PRSS56	MFRP	USH1G	CDH23	ZMYM2	FKBP6	PDPN	ESPN	PRKCZ	MED25	STX1A	TGM5	MYO7A	PRDM16	GABRD	SKI	WDR35	HARS1	CLRN1	OTX2	BAZ1B	UBE4B	WDR19	PCDH15	CASZ1	METTL27	TBL2	CLIP2	BUD23	RPGRIP1	GTF2IRD1	BEST1	SLC6A6	RMRP	OGT	SOX2	DNAJC30	USH1C	CEP78	IFT43	RAX
HP_MEDIAN_CLEFT_LIP_AND_PALATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEDIAN_CLEFT_LIP_AND_PALATE	FOXA2	FZD2	GLI2	PTCH1	SIX3	FAM20C	LHX4	DVL3	DVL1	POU1F1	TGIF1	HESX1	WNT5A	SLC2A10	OTX2	PROP1
HP_APLASIA_HYPOPLASIA_OF_THE_SACRUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_SACRUM	TBXT	FANCB	FUCA1	VANGL2	CCL2	VANGL1	MNX1	WNT7A	PTH1R	NODAL	ROR2	ZIC3	POC1A	FUZ	RPS19	HAAO
HP_APLASIA_HYPOPLASIA_INVOLVING_THE_VERTEBRAL_COLUMN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_VERTEBRAL_COLUMN	FLNB	RINT1	TNFRSF11A	COL11A1	VANGL1	TRAPPC2	SLC35D1	DDRGK1	LONP1	SOX9	SOX2	COMP	ROR2	SLC26A2	POC1A	GALNS	INPPL1	RMRP	NFIX	FUZ	KIAA0586	LFNG	SUMF1	CLCN3	ARSL	EBP	VANGL2	CCL2	MNX1	NOG	PTH1R	DYM	AIFM1	NODAL	FN1	GLB1	PRKAR1A	COL2A1	EIF2AK3	GNPTAB	HAAO	GUSB	POLR3A	BGN	FGD1	TBXT	FUCA1	ARSB	RAB33B	SIX6	CSPP1	TRPV4	TCIRG1	RPS19	DDR2	FANCB	WNT7A	EXTL3	NOTCH2	SLC29A3	COG4	NSDHL	LBR	PDE4D	ZIC3	IDUA	ACVR1
HP_ABNORMAL_COCCYX_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_COCCYX_MORPHOLOGY	FAT4	COLEC11	MASP1	COLEC10	TAF1	DCHS1	TRPV4	TBX15	SH3PXD2B
HP_POSTERIOR_HELIX_PIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_HELIX_PIT	GPC4	KCNQ1OT1	KCNQ1	CDKN1C	GPC3	IGF2	EP300
HP_CONGENITAL_SENSORINEURAL_HEARING_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_SENSORINEURAL_HEARING_IMPAIRMENT	KCNE1	GNRHR	PROK2	TACR3	GREB1L	KISS1R	WFS1	ADGRV1	FGF17	KCNJ10	USH1C	KYNU	PDZD7	MITF	RAC1	SLC26A4	KARS1	PAX3	SPRY4	GJB6	ROR1	KCNQ1	PCDH15	KISS1	USH2A	TAC3	NSMF	PRPH2	POU3F4	FOXI1	COX16	CLPP	RHO	PROKR2	CHD7	FGF8	GJB2	PRPS1	WDR11	ESRP1	LRTOMT	RDH5	RLBP1	MAP3K7	HS6ST1	FGFR1	SNAI2	GNRH1	IGF1	DUSP6
HP_ABNORMALLY_FOLDED_HELIX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALLY_FOLDED_HELIX	CHUK	SMC1A	TGFB3	COMT	HOXA2	HIRA	PIGL	SLC16A2	EFTUD2	FREM1	PPP1CB	NFIX	SLC6A8	KIAA0586	PPP2R3C	TBX1	SALL1	HSPG2	RECQL4	FANCB	FN1	LONP1	RPS23	DDX6	SLC26A2	TFAP2A	AMER1	ZNF462	CLIC2	TASP1	CPT2	FGFR2	COL2A1	CREBBP	BICRA	PIGN	MED12	PIGA	PIGB	VPS51	FBN2	CHD7	PLCB4	TWIST1	DACT1	BCL11A	NAA10	KANSL1	EBF3	NARS1	CSPP1	GNAI3	SEMA3E	TBX2	ARVCF	SEC24C	RREB1	ACTB	GP1BB	BCOR	AGO2	UFD1	FOXP2	GNB1	AMMECR1	PYCR2	JMJD1C	BHLHA9
HP_COCHLEAR_MALFORMATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COCHLEAR_MALFORMATION	ORC1	COL4A6	FOXI1	EYA1	SRCAP	KCNJ10	SLC26A4	SIX1
HP_EXTERNAL_EAR_MALFORMATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXTERNAL_EAR_MALFORMATION	FANCM	PEX1	FGD1	PIK3R1	PEX14	TBCE	LRRC8A	IGHM	RAD51	PALB2	CTH	FREM2	UBE2T	ANK1	PEX11B	ESCO2	MAD2L2	KIF1A	FANCA	CD79A	TP63	CCBE1	FANCC	PEX2	BRIP1	PEX3	PEX6	FANCG	FAT4	ZNHIT3	GJA1	PEX19	NAA10	PEX10	DSE	BLNK	PEX13	GNAI3	FGFR2	TCF3	EYA1	SALL1	FRAS1	PLCB4	FANCF	ADAMTS3	PEX5	ERCC4	SLX4	FANCD2	TUBB	PEX12	PEX26	MAPRE2	CHD7	RFWD3	DACT1	TWIST1	FGFR3	SEMA3E	BRCA2	XRCC2	CHST14	PURA	GRIP1	EDN1	IGLL1	SALL4	ERF	BCOR	FANCB	FANCL	RAD51C	BRCA1	FANCE	MAFB	FANCI	CHN1	PEX16	SIX1	CD79B	SIX5	GATA4
HP_UNDERFOLDED_HELIX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNDERFOLDED_HELIX	FN1	COL2A1	SLC16A2	RECQL4	SLC6A8
HP_HYPOPLASIA_OF_THE_COCHLEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_COCHLEA	EYA1	DDX11	KCNJ10	FOXI1	SIX1	SIX5	SLC26A4
HP_MILD_NEUROSENSORY_HEARING_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MILD_NEUROSENSORY_HEARING_IMPAIRMENT	PGM3	IL1RAPL1	MID2	ZNF711	PTCHD1	TSPAN7	CLCN4	AGTR2	USP27X	DMD	ARHGEF6	MED12	ZNF41	SLC9A7	FRMPD4	ZNF81	ARX	GDI1	IQSEC2	PAK3	ALG13	MECP2	RAB39B	FTSJ1	ACSL4	UPF3B	USP9X	CNKSR2	STEEP1	RPS6KA3	HCFC1	DLG3	SYP	MFN2
HP_HYPOPLASTIC_HELICES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_HELICES	PLCB4	PBX1	AASS	PAH	FRAS1	TFAP2A	GNAI3	FOXP1	AGO2	HOXA2
HP_PROMINENT_ANTITRAGUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_ANTITRAGUS	RAB3GAP2	PIGK	KAT6A	B3GAT3	CHST3
HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_MIDDLE_EAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MORPHOLOGICAL_ABNORMALITY_OF_THE_MIDDLE_EAR	IDS	AIRE	APC2	SETBP1	POU3F4	NOTCH3	GDF6	PSMD12	RAD21	EYA1	SIX1	SETD2	EFTUD2	COL1A1	DDR2	GJB2	NOG	ABCC6	BPTF	NKX2-1	FRAS1	COL1A2	RAI1	ENPP1	NSD1	TFAP2A	SIX5	GJB6	SYK
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	MYO6	TBK1	LOXHD1	MT-TW	MT-TF	PSAP	SLC12A2	SQSTM1	POGZ	MT-CO2	RTTN	ARSA	STRC	RBMX	POLG	LHFPL5	ITGA2B	MT-TL1	TARDBP	NARS2	MT-ND5	MT-TV	MT-TC	GP1BB	MITF	CHCHD10	IARS2	COA8	C9orf72	SPTBN1	ITGB3	DCAF17	TUBB3	MT-ND6	CHSY1	KCNE1	BSND	ERCC3	MT-CO3	MPLKIP	MT-TS2	TBC1D24	GTF2H5	GP1BA	ACOX1	TARS1	ITGA2	DNAJC3	MT-CO1	MPEG1	MYO7A	YARS1	DSPP	GRXCR2	MT-TQ	CLCNKB	RNF113A	FUS	CD109	POU3F4	GTF2E2	MARS2	MT-TK	ERCC2	TWNK	ATG7	KCNQ1	CATSPER2	MT-ND1	MYH14	ATP6V0A4	MRAS	ACTG1	IGF1	MT-CYB	DNAJC19	ADAMTSL1	VCP	CLCNKA
HP_ABNORMALITY_OF_THE_STAPES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_STAPES	GJB2	NOG	IDS	POU3F4	ABCC6	SETBP1	BPTF	GDF6	PSMD12	RAD21	COL1A1	COL1A2	ENPP1	GJB6
HP_APLASIA_HYPOPLASIA_OF_THE_FALLOPIAN_TUBE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_FALLOPIAN_TUBE	WNT3	DCAF17	DHH	AR	WNT4
HP_URETHRAL_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETHRAL_STENOSIS	PLEC	MLXIPL	GTF2IRD2	DKC1	BNC2	NOP10	POLA1	VPS37D	NPM1	ELN	LAMC2	FERMT1	USB1	BCL7B	TMEM270	GTF2I	MKKS	NCF1	RFC2	LAMA3	LIMK1	TP63	LAMB3	EIF4H	PKP1	CDC45	RTEL1	FLNA	FLT4	ZMYM2	TERT	FKBP6	TBX1	STX1A	MAP3K7	TINF2	ITGB4	WRAP53	BAZ1B	MMP1	CTC1	METTL27	TBL2	CLIP2	COL7A1	BUD23	TERC	GTF2IRD1	NHP2	RIN2	PARN	DNAJC30	ITGA6
HP_ABNORMAL_SPERMATOGENESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SPERMATOGENESIS	FANCM	TSPY1	DAZ3	ARMC2	AR	SRY	TACR3	HSFY1	M1AP	VAMP7	KIT	RAD51	PMFBP1	CATIP	FGF17	DNAH9	ZFPM2	NR0B1	GBA	ZMYND15	TXNRD2	ANK1	TEX11	CFTR	TERB1	GATA4	RNF212	SOX9	FANCC	DZIP1	BRIP1	FSHB	MAP3K1	NR5A1	DAZ2	DCAF17	SPRY4	STRC	STAR	RBMY1A1	ANTXR1	FANCF	ERCC4	MEIOB	SLX4	HJV	FANCD2	NANOS1	TEX15	KDM5D	DNAH10	HSD3B2	HFE	SYCP3	STEAP3	SOHLH1	CHD7	BRCC3	VCY	TAF4B	FGF8	SLC29A3	BLM	WDR11	WT1	WWOX	DAZ1	HS6ST1	CFAP70	FGFR1	CFAP47	IFT74	CATSPER2	GNRH1	DDX3Y	MRAP	DAZ4	FANCL	RAD51C	ATM	FANCE	DUSP6	KISS1R	C14orf39	LHB	GNRHR	PROK2	CNBP	BMP2	DMRT3	PALB2	POC1A	CLDN2	UBE2T	XRCC2	MAD2L2	BCL10	NNT	FANCA	PNLDC1	SYCE1	SCP2	FANCG	OCRL	SPINK2	STAG3	BPY2	KLHL10	ALMS1	ANOS1	CFAP65	TEX14	PRY	CDY1	TDRD9	KISS1	TAC3	ADGRG2	LHCGR	NSMF	MCM8	POR	DHX37	TERB2	SYCP2	RFWD3	SUN5	PRKAR1A	FGFR3	USP9Y	PROKR2	BRCA2	CEP19	MC2R	RPS4Y2	NR3C1	CATSPER1	STK11	FANCB	SEMA3A	CDY2A	BRCA1	FANCI	PRY2	DNAH17	CFAP91
HP_CALCIUM_OXALATE_NEPHROLITHIASIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALCIUM_OXALATE_NEPHROLITHIASIS	ADCY10	GRHPR	HOGA1	SLC36A2	SLC6A19	SLC26A1	AGXT	OPLAH	SLC6A20
HP_RENAL_HYPOPLASIA_APLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_HYPOPLASIA_APLASIA	ELN	COMT	ALDH18A1	RTTN	GATA1	SKIV2L	RAD51	FREM1	CDC42	GATA3	GTF2I	FANCC	CEP120	NCF1	ARL6	PIEZO2	EIF4H	FAM149B1	GREB1L	RPL18	FANCF	CTU2	ERCC4	CEP63	FANCD2	SDCCAG8	PRMT7	NODAL	NDNF	SALL4	FGF10	GDF6	EVC2	STIL	CHD7	NADSYN1	FANCL	PAX2	FRAS1	THOC6	LRP4	SEMA3E	PHGDH	MBTPS2	PTPN11	MEOX1	FREM2	MAD2L2	FANCA	PPP2R1A	BCL7B	HS6ST1	PTCH1	MYOD1	RPL27	FANCB	KNSTRN	TNXB	DYNC2LI1	COPB2	FGFR2	RPL35A	EYA1	RPS10	SIX3	DYNC2I1	RPS26	WNT4	NIPBL	RMND1	CDON	TOPORS	TTC37	GPKOW	INSL3	DUSP6	POR	HNF1B	PIK3CA	FLRT3	ATRX	WDR62	RPS15A	JAG1	KIF14	ARID1B	FGF8	METTL27	RNU4ATAC	DHCR7	SOX10	BCOR	NDUFAF3	FAT4	DYRK1A	DISP1	STS	FANCI	WDR19	DCDC2	ZPR1	ANKRD17	PBX1	CCNQ	RPL15	KDM6A	COX14	DCC	GLI3	LEMD3	KYNU	TRRAP	DLL4	TBX1	CENPJ	CIT	RFC2	FGF20	OFD1	PROKR2	MCPH1	ZIC2	FKBP6	KIAA0753	BMP4	FGFR1	KCNJ2	TGIF1	GDF3	RPS19	RAI1	SON	CCDC141	FOXH1	BUD23	RAD51C	FANCE	DNAJC30	TFAP2A	CD96	FLII	RPS24	PYCR2	TBX18	VPS37D	DEAF1	RARB	SASS6	ADA2	MKKS	SALL1	PIK3CD	WNT9B	COG6	DHCR24	TP63	FUZ	NFIA	GLI2	B3GLCT	PROK2	SHH	PDE6D	MDM2	BRCA2	XRCC2	WBP11	DYNC2H1	CPLANE1	GRIP1	ANKLE2	WDR35	GP1BB	BRCA1	PQBP1	PORCN	WDR11	GAS1	MLXIPL	TMEM67	XRCC4	ASPM	APC	FBXW11	KCTD1	SCO2	SURF1	TACR3	LIMK1	HSPA9	RPS17	RPS7	PRKAR1A	HMGA2	PUF60	CEP135	TBC1D24	RPS28	DCHS1	TBX3	CENPF	RPL35	FEZF1	KNL1	ARVCF	RPL5	GLI1	CDK6	HOXD13	FGFR3	UFD1	SH2B1	IDH1	RPS27	NSD1	ZNF699	RET	INTU	VANGL1	HIRA	NOTCH2	METTL5	PALB2	SETD2	SEMA3A	RPS20	SF3B4	PAX1	FANCG	PPP1R15B	ITGA8	HAAO	TXNL4A	IL17RD	EVC	NDUFB8	SUFU	TRAPPC14	GNB2	DACT1	NAA10	ANOS1	MCM5	MKS1	SEC24C	TBL2	RPL26	MUC1	NSDHL	ZIC3	RFWD3	FANCM	APC2	AFF3	TMEM216	RIPK4	TMEM270	BRIP1	FGF17	NCAPG2	ROBO2	HESX1	TDGF1	DYNC2I2	LMBRD1	PIK3C2A	SLX4	STX1A	KIF7	SRCAP	RAD21	BAZ1B	RPL11	LHX1	HS2ST1	TCTN3	MFSD2A	REN	ERCC8	TAF13	JMJD1C	GTF2IRD2	CEP152	NF1	SIX1	UBE2T	STRA6	KCNJ5	KMT2D	PPP2R3C	FBLN5	GEMIN4	ARX	ATN1	ZMYM2	RPL31	PHC1	NDUFS2	ERCC6	RPS29	CDK5RAP2	IFT80	DLL1	SPRY4	TSR2	WNT3	RREB1	IQSEC2	CLIP2	NCAPD3	GTF2IRD1	CEP55	SIX5
HP_RENAL_TUBULAR_EPITHELIAL_NECROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_TUBULAR_EPITHELIAL_NECROSIS	LAMB3	SLC22A12	CPT2	LAMC2	LAMA3
HP_APLASIA_HYPOPLASIA_OF_THE_UTERUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_UTERUS	GNRHR	FOXL2	PROK2	CYP11A1	CYP17A1	AR	GNRH1	BMP15	SPIDR	TACR3	CPLX1	FGFRL1	KISS1R	BNC1	NIN	HCCS	MYRF	FGF17	IRF6	COX7B	RBM8A	LETM1	STRA6	GATA3	PPP2R1A	POLR3H	CTBP1	CYP11B1	WNT7A	DCAF17	SPRY4	C14orf39	DHH	ESR1	KISS1	WNT4	DHX37	NUP107	TAC3	NSMF	BMPR1B	B3GLCT	PSMC3IP	CYB5A	FIGLA	NR5A1	LARS2	MRPS22	CLPP	NDUFB11	ARID1B	SOHLH1	ADH5	ERAL1	PROKR2	CHD7	FGF8	HNF1B	FSHR	TOE1	WDR11	NSD2	HS6ST1	FGFR1	DUSP6	GLI3	TP63	MINPP1
HP_BILATERAL_CRYPTORCHIDISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_CRYPTORCHIDISM	CPLANE1	FGD1	TOPORS	NONO	TCTN3	FARS2	ZBTB20	AMHR2	CYP17A1	AR	KIAA0753	ODC1	SRY	COLEC10	IGBP1	RPL10	PDE6D	COLEC11	TMEM216	RIPK4	TWIST1	KIF7	IFT172	MCM5	POLE	FDFT1	ATP6V1E1	C2CD3	MASP1	ATP6V1A	LSS	WDR37	RYR1	OFD1	FAM149B1	DNAJC19	AMH	KLHL15
HP_RENAL_HAMARTOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_HAMARTOMA	TSC1	TSC2	CDC73	CDKN1B	DIS3L2	MVK	IFNG
HP_TESTICULAR_DYSGENESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TESTICULAR_DYSGENESIS	MAP3K1	TSPYL1	DHX37	CBX2	GATA4	DHH	SOX9	WT1	NR0B1	NR5A1	ARX	SRY	DMRT1
HP_URETHROVAGINAL_FISTULA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETHROVAGINAL_FISTULA	DYNC2H1	DYNC2I2	UBR1	IFT80	WDR35	DYNC2I1
HP_URETHRAL_DIVERTICULUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETHRAL_DIVERTICULUM	MAMLD1	LTBP1	PLD1	EFEMP2	AR	FBLN5
HP_HYPOPLASIA_OF_THE_VAGINA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_VAGINA	GATA4	SOX9	WT1	WWOX	MAP3K1	CYB5A	CYP11B1	DMRT3	DHX37	VAMP7	SRY	ZFPM2	IRF6	NR0B1	NR5A1	CYP17A1	B3GLCT
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	GATA4	SOX9	CYP11A1	CYP17A1	AR	WT1	WWOX	MAP3K1	CYB5A	DMRT3	DHX37	VAMP7	SRY	ZFPM2	HSD3B2	NR0B1	NR5A1	HSD17B3
HP_DECREASED_TESTICULAR_SIZE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_TESTICULAR_SIZE	TSPY1	FANCM	CCDC28B	FGF17	LEPR	SOX9	SOX3	SNRPN	HSPG2	TACR3	DCAF17	SPRY4	FSHB	SATB2	PHGDH	NDNF	HSD3B2	FEZF1	DNAJC19	RPL10	CHD7	BRCC3	FAM111A	WDR11	FOXA2	WT1	PROK2	DAZ1	FGFR1	CUL4B	TOGARAM1	DAZ4	CCDC141	DAZ2	BBS1	HESX1	DUSP6	GNRHR	MBTPS2	KDM5C	XPA	DKC1	SEMA3A	ARL6	LEP	SAMD9	XRCC2	HS6ST1	TEX15	SRY	FBN1	ALMS1	C14orf39	DDX3Y	OTX2	TDRD9	CUL7	IL17RD	NSMF	MAGEL2	MCM8	OCA2	HDAC8	FLRT3	ATRX	NANOS1	NR5A1	SEMA3E	ANOS1	PROKR2	ERCC4	FGF8	TEX11	GNRH1	SOX10	SRA1	RSPO1	XPC	CYP17A1	ZPR1	CHRM3	VAMP7	AXL	KCNJ6	PROP1	ZFPM2	DCC	NR0B1	GLI3	DDB2	GATA4	MAP3K1	CYP11B1	LHX4	NDN	RBMY1A1	MEIOB	SIM1	RAB18	ERCC5	POU1F1	FMR1	SOHLH1	POLA1	TCTN3	DMXL2	WWOX	MAP3K7	TBC1D20	GBA2	CYP11A1	PMM2	SYCP3	CDKN1C	CTDP1	KISS1R	ZMYND15	SLC39A4	GLI2	DMRT3	CFTR	PHF8	PNLDC1	ERCC3	DAZ3	ARX	PHF6	PQBP1	TEX14	SLC29A3	B4GAT1	LHCGR	KISS1	TAC3	KLHL10	CYB5A	DHX37	RLIM	THOC2	USP9Y	TAF4B	ERCC2	SYCE1	OGT
HP_HYPOPLASIA_OF_PENIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_PENIS	PROM1	INPP5E	AR	LHX4	TBCE	LZTFL1	CDC6	B3GALNT2	GATA4	RTTN	CCDC28B	NDN	TWIST2	STT3A	COX7B	MAMLD1	KIZ	OTX2	GTF2I	NEK2	SCN2A	EZH2	NCF1	EXT2	ROR2	DAG1	DCAF17	CDH2	EIF4H	POLR1C	SATB2	SDCCAG8	CTU2	INTU	IMPG1	IFT27	FZD2	DYNC2H1	NODAL	NDNF	BBS5	EBF3	CHD7	IFT74	SLC29A3	POMGNT1	CEP290	WT1	CEP19	PROK2	EIF2S3	LRAT	FGFR1	STT3B	MADD	HESX1	TOGARAM1	PHF21A	SLC7A14	CILK1	RNASEH2C	PCARE	LARGE1	FRAS1	DVL3	GNAO1	SC5D	DUSP6	IFIH1	REEP6	RNU7-1	SMC3	SEMA3E	PLAG1	LHB	CHD4	SLC25A24	GNRHR	EHMT1	BBS7	PNPLA6	CYP17A1	PTPN11	EED	HGSNAT	SOX2	CENPT	FREM2	SGPL1	COLEC10	POLR1D	ZEB2	ABCA4	BCL7B	HS6ST1	MYH3	PTCH1	KIAA0586	FANCB	SPTBN1	CDON	COL4A1	KDM6A	TCF4	DDX6	ALMS1	MKRN3	SIX3	SPATA7	DYNC2I1	POMGNT2	FGF17	NSMF	KCNA1	HSD3B2	POR	FLRT3	ATRX	PRDM16	CRX	FANCL	CEP41	RAB18	NXN	PROKR2	FGF8	POMT1	METTL27	RNU4ATAC	KATNIP	LMNB2	NPAP1	DHCR7	SOX10	BBS2	ARL6	PPP1R12A	MAGEL2	FAT4	DVL1	DYRK1A	TBL1XR1	DISP1	SMC1A	FIG4	GUCA1B	ZPR1	GLI2	DHDDS	GPC3	CNGB1	PBX1	ARNT2	CERKL	SOX9	TACR3	ADAT3	RP1L1	RSPO2	RAD21	VAMP7	TRIM32	RERE	HCCS	ZFPM2	IFT172	DCC	NR0B1	GLI3	ZNF408	ADAR	CA4	TRRAP	ELN	KLHL41	RAB3GAP1	SMCHD1	SNRPN	C2CD3	GMNN	DHODH	RAB3GAP2	RFC2	PDE6G	FAM111A	LIG4	SRD5A2	BUB1B	ZIC2	FKBP6	BRD4	HMGA2	RNF113A	BMP4	IMPG2	RGR	FANCD2	AGBL5	CDHR1	TGIF1	TOE1	OTUD5	MKKS	SCAPER	ERCC6	CCDC141	SPRY4	WWOX	SIK1	FOXH1	BUD23	TBC1D20	ATP6V1A	OFD1	POMK	PRCD	EYS	DNAJC30	GRM7	PRPF8	TCOF1	KISS1R	KIF7	ARX	PNKP	NEB	DMXL2	ARHGEF18	CASK	SCN1B	VPS37D	ECE1	WNT5A	CRPPA	KAT6B	TAPT1	TUB	ARL2BP	PHF6	COG5	PDE6B	TP63	CFAP418	SALL1	SNORD115-1	POMT2	B4GAT1	CHRNG	KISS1	TAC3	KLHL40	CYB5A	RLIM	SHH	UBE2A	ORC6	THOC6	WDR11	PRKDC	GRIP1	CDT1	SEMA4A	ACTB	LEP	WNT7A	RNASEH2A	KIAA0753	SNORD116-1	YWHAE	PRPF31	WDR35	MBD5	ORC1	LMOD3	FKRP	GAS1	MLXIPL	SRY	HDAC8	ORC4	TSPYL1	USH2A	PRPF3	NEUROD2	RIPK4	XRCC4	CPE	MCTP2	IFT140	NR2E3	RP2	LIMK1	ISL1	MEGF8	RP1	IGF2	UBR1	PSMD12	RXYLT1	MTM1	IMPDH1	VAC14	BBS9	KMT2D	ALG12	PRKCZ	TBX3	SIX6	CDKL5	FEZF1	UBE4B	LMX1B	ARCN1	ALKBH8	SUZ12	USP7	AHR	HOXD13	CDH11	CUL4B	LSS	HUWE1	GHR	BBS1	CDKN1C	RYR1	PRRX1	IFT88	IDH3B	FAM161A	RNASEH2B	DIS3L2	FKTN	NR5A1	MYRF	KCNAB2	ERCC8	PDE6A	SEMA3A	SAMD9	PIGQ	KLHL7	DHX38	WASHC5	MNX1	MKS1	ROM1	GPR161	MMP23B	UBR7	SOX3	CDC45	ATAD3A	RPE65	RDH12	HERC1	SETBP1	IL17RD	PDPN	PRPF6	STXBP1	SUFU	GNB2	DACT1	NRL	ANOS1	IDH3A	GNRH1	TBL2	ALX4	SRA1	PAFAH1B1	PWAR1	TOPORS	ROBO1	SNRNP200	SAMHD1	TRIM8	HSPG2	SPEN	AXL	THOC2	BBS12	ANK1	NIPBL	POLE	TMEM270	MAP3K1	BBS4	TDGF1	DYNC2I2	GMPPB	RBP3	KDM5C	SIM1	PRPH2	SAG	STX1A	MAK	KIAA1549	KIAA1109	BAZ1B	NDUFB11	OPHN1	RPGR	ARL3	RHO	ACTA1	SMO	ERCC2	CASZ1	POLR1B	BEST1	CNGA1	DCX	MERTK	BBS10	SIN3A	PIEZO2	MINPP1	GTF2IRD2	CCDC22	DMRT3	ZNF513	UBA1	HERC2	RP9	BBIP1	FSCN2	FANCF	TTC8	HOXA13	LUZP1	PWRN1	WDPCP	B9D2	CLRN1	GPC4	PIGA	DHX37	TULP1	NSD1	GABRD	SKI	DPYSL5	PRPF4	GRIA3	IFT80	DLL1	CRB1	NEK1	NPHP1	RLBP1	PIGP	CLIP2	SLC25A22	GTF2IRD1	TREX1	DNAJC19	KLHL15	AHI1
HP_LARYNGEAL_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARYNGEAL_HYPOPLASIA	HYLS1	INTU	PRRX1	KRAS	SF3B4
HP_LARYNGEAL_CLEFT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARYNGEAL_CLEFT	CAPN15	GLI3	SPECC1L	EDN1	SPTBN1	MID1
HP_LARYNGOTRACHEOMALACIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARYNGOTRACHEOMALACIA	KIF22	COL2A1	EMC1	HK1	FLNB	HAAO	TONSL	TRRAP
HP_REPETITIVE_COMPULSIVE_BEHAVIOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REPETITIVE_COMPULSIVE_BEHAVIOR	SYT1	GRN	TSC1	DNAJC19	MECP2	NR2F1	FOXP1	TSC2	SPTBN1	AUTS2	WDR26
HP_NO_SOCIAL_INTERACTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NO_SOCIAL_INTERACTION	TRIM8	SH2B1	EXTL3	GFM2	ACOX1	IQSEC2
HP_AUDITORY_HALLUCINATIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AUDITORY_HALLUCINATIONS	SON	LGI1	CACNA1A	NPRL2	DNAJC5	CLN6	DEPDC5	CDH2	CEP85L	FIG4	MMACHC	NPRL3	RELN
HP_INAPPROPRIATE_SEXUAL_BEHAVIOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INAPPROPRIATE_SEXUAL_BEHAVIOR	PSEN1	ATP7B	GRN	MAPT	GNAS
HP_OBSESSIVE_COMPULSIVE_TRAIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OBSESSIVE_COMPULSIVE_TRAIT	ADGRV1	SCN1B	DMPK	GABRG2	FMO3	MAGEL2	NDN	ELN	SCN9A	STX1B	SCN1A	MLXIPL	YWHAG	SCN2A	SNRPN	GABRD	SYNGAP1	USP7	FMR1	HCN1	PCDH19	GABRA1	PANK2	SLC45A1	CLN5	OCA2	GATAD2B
HP_APLASIA_HYPOPLASIA_OF_THE_EAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_EAR	ORC1	MSX2	PIGG	SMAD4	FKTN	HOXA2	GREB1L	ORC4	CDC6	GATA1	RIPK4	TWIST2	AGA	CNOT1	FIG4	KCTD1	FBXO11	FGFR2	HSPA9	PAK1	NELFA	TFAP2A	POLR1C	RPL18	RPS17	RPS7	AMER1	INTU	RPS28	PRKCZ	LETM1	DCHS1	SPOP	TWIST1	RPL35	UBE4B	FKRP	NSD2	SEMA3E	BMP2	CHD7	FANCB	RPL5	EDN1	FGFR3	RPS27	CHST3	DACT1	FGF3	DHODH	GMNN	POLR1A	KCNAB2	CPLX1	CRPPA	POLR1D	RPS20	SF3B4	COG1	CHUK	RPL27	FGF10	EYA1	RPL35A	RPS26	RPS10	MMP23B	NIN	CDC45	PLCB4	KIF15	ITGB4	PDPN	KCNJ10	PLEC	ATRX	PRDM16	RPS15A	HS6ST2	FANCL	MCM5	STAG2	PIGN	ABHD5	LAS1L	RNU4ATAC	POMT2	RBM10	FAT4	WNT3	MAP1B	RIC1	RTL1	MAF	PBX1	RPL15	ADNP	HSPG2	SPEN	RERE	GLI3	EFTUD2	RSPO2	POLE	LMBRD1	BPTF	POMT1	RSPRY1	SMARCA2	HNRNPK	SIM1	B3GAT3	PAM16	TSR2	PIK3CA	MEG3	RPL11	CASZ1	POLA1	TCTN3	POLR1B	CTBP1	RPL26	TCOF1	HDAC8	SIAH1	RPS24	PCGF2	SLC26A4	CDT1	SIX1	CENPJ	POC1A	FANCF	ADA2	SALL1	MED12	LUZP1	RPS19	GBA	SETD1A	TBX15	TP63	GNAI3	MBD5	SLC35C1	ZNF462	HOXA13	ZMYM2	RPL31	FOXI1	B3GLCT	TTC37	PSMD12	DLK1	GABRD	SKI	MAPRE2	RPS29	ORC6	EIF5A	PCNT	DDX11	OTUD6B	NFIX	SIX5	LARGE1
HP_APLASIA_HYPOPLASIA_OF_THE_INNER_EAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_INNER_EAR	FGF3	DDX11	KCNJ10	FOXI1	GREB1L	SLC26A4	SIX1	EYA1	SIX5
HP_ABNORMAL_PROSTATE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PROSTATE_MORPHOLOGY	STAT6	RAD51	ZFHX3	BRCA2	RNF43	RAD51C	RAD50	CHEK2	PTEN	TP53	AR	BRCA1	BTK	HGD	PRTN3	NAB2	EPHB2	CTLA4	MDM2	PHF6	AAGAB	HLA-DPA1	PALB2	MXI1	RAD51D	NBN	CDH1	BMPR1A	KLF6	MAD1L1	APC	RNASEL	CDKN2A	MRE11	PTPN22	BRIP1	HLA-DPB1	COL14A1	GREM1	BARD1
HP_CONGENITAL_BILATERAL_HIP_DISLOCATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_BILATERAL_HIP_DISLOCATION	TELO2	CLTCL1	PLOD1	COL1A1	COL12A1	SHROOM4	FBLN1
HP_DELAYED_PUBIC_BONE_OSSIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_PUBIC_BONE_OSSIFICATION	COL2A1	GJB6	RUNX2	GJB2	NKX3-2
HP_LIMITED_HIP_MOVEMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITED_HIP_MOVEMENT	ERGIC1	MYH3	NALCN	LGI4	APC2	GARS1	SELENON	RNU4ATAC	ITGA7	UNC80	ERLIN2	TTN	KAT6B	PI4KA	COMP	SLC26A2	SETD2	TRPV4	DST	COL2A1	SPEG	SLC10A7	TPM2	RYR1	HSPG2	KY	DYSF	HACD1	FKBP10	PTH1R	FBN2	HGD	NIPA1	GPC6	FGFR3	F8	MATN3	BICD2	TNNT1	CHST3	MMP2	BIN1	ZBTB20	EXT1	MAP3K7	MYLPF	PIGY	TELO2	MYH7	ZMPSTE24	MYL2	GNB2	EXT2	MAP3K20	UBA1	PNPT1	TPM3	HS2ST1	PIEZO2	ACTA1	LMNA	SLC6A9	NSD1	ZC4H2	P4HTM	GNPTAB
HP_HYPOPLASIA_OF_THE_FEMORAL_HEAD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_FEMORAL_HEAD	SLC26A2	IFNGR1	IDUA	POP1	TRAF3IP1
HP_ACETABULAR_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACETABULAR_DYSPLASIA	ERGIC1	AP3B1	AP4S1	EIF4A3	B3GALT6	EXTL3	POLR1A	MYO18B	COMP	VPS33A	AP4E1	SLC26A2	GLB1	AP4M1	RPS15A	AP4B1	GUSB	TIMM22
HP_FLATTENED_FEMORAL_HEAD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLATTENED_FEMORAL_HEAD	COL2A1	GLB1	TRPV4	RSPRY1	TRAPPC2	RAB33B
HP_LARGE_ILIAC_WING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_ILIAC_WING	SMAD4	B3GALT6	ATP7A	RNU4ATAC	AMER1
HP_DELAYED_PROXIMAL_FEMORAL_EPIPHYSEAL_OSSIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_PROXIMAL_FEMORAL_EPIPHYSEAL_OSSIFICATION	PROP1	B3GALT6	TPO	TSHR	LHX4	COL2A1	LHX3	DUOX2	DUOXA2	IYD	TG	HESX1	TSHB	POU1F1	RNU4ATAC	SLC5A5	MATN3
HP_HYPOPLASTIC_PUBIC_RAMI	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_PUBIC_RAMI	PIGG	CPLX1	NELFA	CTBP1	LETM1	NSD2
HP_IRREGULAR_ACETABULAR_ROOF	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRREGULAR_ACETABULAR_ROOF	COMP	COL2A1	UFSP2	COL10A1	TRPV4	CCN6
HP_HYPOPLASTIC_PELVIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_PELVIS	CUL7	RSPO2	ERCC6	WNT3	CEP120	COL2A1	SMARCAL1	CCDC8	COMP	NSDHL	ERCC8	POC1A	PORCN	WNT7A	OBSL1
HP_HIP_OSTEOARTHRITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIP_OSTEOARTHRITIS	COL2A1	ACAN	TRAPPC2	PTPN22	FRZB	GDF5	HLA-B	CD247	ANKRD55	IL2RA	TRPV4	STAT4	CLCN7	SMAD3	COMP	IL2RB	PTPN2
HP_SEVERE_INTRAUTERINE_GROWTH_RETARDATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_INTRAUTERINE_GROWTH_RETARDATION	INSR	TBCE	EMG1	IGF1	CEP57	H19	ESCO2	NIN	POLR3A	IGF2
HP_MODERATELY_SHORT_STATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MODERATELY_SHORT_STATURE	HOXD13	SLC26A2	RUNX2	SELENOI	SLC39A13
HP_SEVERE_POSTNATAL_GROWTH_RETARDATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_POSTNATAL_GROWTH_RETARDATION	IL2RA	INSR	BRD4	RPL10	HDAC8	ANKRD55	CPLX1	FGFRL1	RAD21	WFS1	ERCC8	PPP1R15B	CD247	NIPBL	LETM1	GATA3	STAT4	POU1F1	EMG1	TSHB	BLM	EBP	CTBP1	NSD2	TRMT10A	TBC1D20	PTPN22	SHPK	PTPN2	LHX4	IL2RB	IGF1	GNPTAB	SMC1A	NIN	RYR1	SMC3
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	IL7R	RAG1	CD247	CD3D	PTPRC	RAG2	CD3E
HP_FEEDING_DIFFICULTIES_IN_INFANCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEEDING_DIFFICULTIES_IN_INFANCY	UBE3A	FKTN	COMT	UNC80	MYO9A	ALS2	AGRN	MYO1H	TIMMDC1	CACNA1I	FLCN	TBCK	UQCRFS1	TSEN54	POLR3K	NDN	BRAF	RRAS	KANSL1	DPM1	COL6A1	SHH	PRKCSH	RIT1	CDH15	SNRPN	BCOR	PEX3	EZH2	GPT2	HSPG2	COL6A2	TGIF1	BCKDHA	KRT5	YY1	TMEM67	IFT140	TOR1A	FAM149B1	PIGW	TGFB1	WFS1	TRIO	SIX3	SATB2	MTHFR	SUCLA2	ERCC2	TOP3A	BIN1	IGF2	SLC25A1	PTCH1	DLK1	UBB	SCNN1A	CDON	SLC5A7	FOXH1	RRAS2	ERBB4	RAPSN	MYT1L	FGF8	FGFR1	RNF13	CACNG2	COLQ	DLG1	TG	ATP7A	TDGF1	SMC3	PLAG1	MID1	TSFM	RAC1	PSAP	DPYS	ITGA7	MTR	EED	NALCN	CAMK2B	DBT	TXN2	ERCC1	SLC1A4	SLC46A1	MRAS	NECTIN1	ZMYND11	RYR1	PPP2R1A	STIL	SKI	TRPM3	GALC	KIF1A	DLL1	PEX6	ASH1L	NODAL	FKRP	SPTBN1	ASPA	HRAS	KDM6A	COL6A3	IYD	FUS	MKRN3	PMM2	WDR26	CHAMP1	ATP10A	LRP5	TOPORS	MTRFR	PEX12	DEAF1	MAGEL2	ZIC2	LAMA2	BTD	SCYL2	AUTS2	PRDM16	DNM1L	POGZ	CHD7	RERE	CEP120	IRF6	DEGS1	MAP3K20	ARID1B	MSX1	GTPBP3	PIGN	POU1F1	DISP1	DALRD3	RAB3GAP1	KIAA0586	TRAPPC4	NPAP1	DHCR7	TANGO2	CREBBP	ACTA1	RAB3GAP2	NDUFAF3	TRIP4	HADH	PEX16	SMC1A	OCA2	ACTL6B	ATP6V1B2	SCO2	EPG5	SAMHD1	DMPK	SPTLC1	ASXL1	SIGMAR1	RAD21	PEX10	CISD2	DYNC2I1	PRICKLE2	WNK1	VPS13B	TUBB6	TBX1	IL17RA	ERCC8	RNF6	KRAS	CAMK2A	OFD1	IFT172	POMT1	PTS	ARSA	NLRC4	SIM1	UBE3B	BUB1B	PPP3CA	PRDX1	TPM2	PEX26	SPRED2	KIAA0753	AHI1	CEP104	BRD4	ELN	TSHR	HMGA2	PCCB	SMARCC2	SET	DYNC2H1	PGAP2	PEX5	SPATA5	OTUD5	CPT1A	RAI1	FARSA	SON	GAS1	EPB41L1	EMG1	BLM	PDE10A	ITCH	KRT14	GOT2	COL13A1	TBC1D20	DYNC1H1	PANK2	REV3L	LRPPRC	MYH3	KDM5B	MEG3	COL2A1	FLI1	SETD1B	PEX14	RPGRIP1L	FLII	PTPN23	SCNN1G	RETREG1	CLTCL1	SPOP	HLCS	AASS	SLC16A2	ATRX	PCCA	CRLF1	MMAA	ELP1	PPP1CB	EP300	AIFM1	FDFT1	HACD1	ARX	PHF6	COG5	CLTC	MKS1	MMAB	PDHA1	RAB11A	CSPP1	SDHB	AVPR2	SNORD115-1	PIGU	ARL13B	SCNN1B	POLR1B	MECP2	CSNK2B	TSPYL1	PGAP1	KDM3B	B3GLCT	ASXL3	FLNA	PSAT1	SDHAF1	PIGQ	ALG14	H19	PLXND1	HNRNPK	PURA	SDHD	UQCRC2	GP1BB	BCS1L	GRHL3	SNORD116-1	AFF4	RPS6KA3	PDSS2	CDK8	PQBP1	NFIX	CEP41	PTPN11	ERCC6	GNPTAB	PARS2	TCTN2	PNPO	YIF1B	MOGS	HDAC8	MLXIPL	ASL	PIEZO2	TSHB	TBC1D24	PRPS1	HSPD1	CTCF	RAF1	PNPT1	RARS2	SURF1	STAG2	C2CD3	CLEC7A	HADHA	SDHA	OPA1	CNOT2	CC2D2A	ZMIZ1	PUF60	PROP1	HSD17B4	KMT2D	ALG12	PRKCZ	HADHB	PIBF1	DCHS1	INPP5E	CPLANE1	UGP2	CCDC32	COX16	UBE4B	TCTN1	IL17RC	SEMA3E	PIGL	ARVCF	SEC63	TPM3	SUZ12	GLI2	SNAP25	SMPD1	DCX	FGFR2	IL17F	UFD1	CASR	EDEM3	IDH1	FOXP1	EN1	UBTF	ZNF699	CDKN1C	PIGT	ORC1	NONO	GAA	MTM1	PAX8	SYT2	RALGAPA1	LAMB2	LHX4	HIRA	LHX3	NACC1	MED12L	KCNAB2	GRIN1	CHAT	TSEN34	MBD5	SLC5A6	CIC	PIGV	ARHGAP29	TSEN15	MCCC1	TET3	WASHC5	COG1	ST3GAL5	NBEA	OCRL	PEX19	SEPSECS	CUX1	KIRREL3	TUBB3	DDC	CLCN6	SOS1	CNTN1	TCF4	MMP23B	KIF15	ATAD3A	TXNL4A	SCN1A	TMEM237	COL7A1	SETBP1	B9D1	FARS2	PDPN	DYRK1A	MAP3K7	MGAT2	NDUFB8	CYP11B2	GGPS1	COQ2	BCKDHB	MYL2	SRP54	GNB2	SLC25A22	DUOXA2	TRMU	RHBDF2	COL1A1	NRAS	SOS2	DLEC1	SEC24C	LONP1	POMT2	MT-TE	TRAF3IP2	CHRNA1	PWAR1	FBN1	TIMM22	RTL1	RASA2	KCNK9	PEX1	WWOX	LIFR	ADNP	CHRNE	SCN9A	SPEN	FAT4	TMEM216	TTC21B	PEX11B	ACTN2	GSX2	NIPBL	DPYD	SCN4A	MAP2K1	LMBRD1	USP7	VAMP1	B3GALT6	TSEN2	SPTBN4	GRM7	HIVEP2	PEX13	MMACHC	DLX4	SCO1	VRK1	KATNIP	CBY1	PGAP3	CPT2	EFTUD2	UGDH	CNOT3	TALDO1	CLN8	RPL10	NDUFS4	SCN3A	DGUOK	ASXL2	GRIN2B	KIF7	SLC52A1	EEF1A2	ACADS	RNF2	SYNGAP1	KLHL40	BMP4	SLC18A3	HTRA2	CASZ1	AQP2	ERCC5	SIK1	SLC9A6	SIN3A	LZTR1	JMJD1C	PLAA	SELENON	COX8A	ZNHIT3	TCTN3	KAT8	DYNC2LI1	CLDN16	CLCF1	SPG11	CCDC22	SH3BP2	TFG	PCGF2	PDE6D	HYLS1	ARMC9	DUOX2	PIGO	HERC2	HESX1	KCNQ5	GFM2	SLC6A8	SUFU	PEX2	LUZP1	TPO	MRPS16	PWRN1	ARL3	DOCK8	NDUFAF8	DYNC2I2	MAP2K2	ATP6V0A2	TK2	NDUFS2	SMARCD1	TRAPPC12	TREX1	IFT80	NSD1	CARS1	GABRD	BRSK2	TGFBR2	PIGY	CASK	UBA1	SLC5A5	TAOK1	PPP1R21	COX10	WDR19	EIF5A	RREB1	IQSEC2	TP63	ODC1	CBL	MOCS1	UNC45B	LARGE1	CDH1
HP_DISPROPORTIONATE_SHORT_LIMB_SHORT_STATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISPROPORTIONATE_SHORT_LIMB_SHORT_STATURE	CANT1	PKDCC	COL10A1	MBTPS2	DHCR7	SLC35D1	SOX9	COMP	SLC26A2	IFT122	XYLT1	FLNB	XRCC4	KYNU	ASXL1	FGFR3	KIAA0586	CEP120	ROR2	CTSK	DYM	P3H1	MATN3	KMT2A	NSMCE2	INPPL1	DYNC2I2	GPC6	COL2A1	TRIP11	MMP13	PRKAR1A	B3GAT3	SIK3	CHST3	PEX7	BMPR1B	FZD2	PCYT1A	HSPG2	DDR2	IFT80	AGPS	EVC2	ARCN1	SHOX	LBR	HS2ST1	GLI1	KDELR2	ALPL	GDF5	WDR19	RMRP	DHCR24	CRTAP	PRKG2	EVC	MAB21L2	COL11A1	PPIB	GPX4	MIR140	MYSM1	POC1A	WDR35	IHH	GNPAT	DVL1	COG1	SLC39A8	FGFR1	COL1A1	TONSL	IFT52	TBX15	COL1A2	DYNC2LI1	ACAN	DYNC2I1	PTH1R	CFAP410	HDAC6	B3GLCT	MESD	ALG12	GSC	CSPP1	CREB3L1	MTOR	NXN	DYNC2H1	ALG9	CEP57	WNT5A	KIAA0753	IFT43
HP_ADIPOSE_TISSUE_LOSS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADIPOSE_TISSUE_LOSS	CAVIN1	MPLKIP	PPARG	GTF2H5	BSCL2	FOS	CAV1	TARS1	ZMPSTE24	KCNJ6	LMNA	ERCC8	INSR	LIPE	ERCC4	AGPAT2	RNF113A	ERCC6	GTF2E2	BLM	ERCC2	PLIN1	LMNB2	CIDEC	PSMB8	POLR3A	ERCC3	FBN1
HP_SEVERE_SHORT_LIMB_DWARFISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_SHORT_LIMB_DWARFISM	NSMCE2	LBR	FLNB	XRCC4	GDF5
HP_POSTNATAL_GROWTH_RETARDATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTNATAL_GROWTH_RETARDATION	AKR1D1	FLNC	NDE1	ELN	COLEC10	RPL10	HDAC8	TBCE	ALDH18A1	BNC2	VPS35L	NALCN	ARID2	DLK1	MGAT2	TNNT2	BRAF	RTEL1	KANSL1	ESCO2	CDC42	MCTP2	STAT5B	GATA3	SMOC1	ARSL	EBP	LARP7	CTBP1	GHSR	IGF2	GNPTAB	TFAP2A	PRKAR1A	SATB2	VAC14	CYP11B2	GM2A	XYLT1	KMT2D	INSR	PTPN22	SIX6	BRIP1	SALL4	DNAJC19	SMARCA4	SEMA3E	PHKB	GNA11	FAM111A	CHD7	SCUBE3	KIF20A	NEXMIF	CREBBP	SHPK	SEC24D	COLEC11	LHX4	PTRH2	CCBE1	SPTA1	CDKN1C	RYR1	SMC3	CHD1	IGFALS	PLAG1	ARG1	TNNI3	HLA-DQA1	SOX4	NAA10	SOX2	SMARCB1	MEG3	WFS1	ERCC8	PPP1R15B	SMARCC2	CTNNB1	CD247	ATP6V1A	COG1	STAT4	COG4	POU1F1	WASHC5	SMC1A	ARID1A	TUBB3	KDM6A	PSPH	PTPN2	CTC1	NIN	GUSB	PHKG2	KIF15	SPTB	DMXL2	CUL7	SOX11	H19	GJB2	PDE4D	SMARCE1	RTL1	NSUN2	ARID1B	RERE	POU3F4	SLC2A1	CDAN1	ERCC4	NSD2	TMCO1	SNRPB	MASP1	GINS1	FIG4	RPL13	MYH3	MAF	ANKRD17	MYPN	B3GALT6	CPLX1	FGFRL1	MTRR	RAD21	KCNJ6	NIPBL	DHODH	FAT4	DYM	CYP2R1	ATP6V0A2	KMT2A	DPF2	SMARCA2	IL2RB	GYPC	LIG4	ADAMTS3	BUB1B	SLC5A2	FLNA	BRD4	RNPC3	HMGA2	RAB18	PCYT1A	CASK	ATR	SMARCD1	TAF1	ERCC6	CYP27B1	PLAGL1	EMG1	SLC4A1	TSHB	BLM	TGDS	DCX	TBC1D20	NBAS	CDK10	ATRX	PIEZO2	RNU4ATAC	KIF7	CCDC22	PAPPA2	MTX2	PNPLA8	PLOD3	PTPN11	EP300	LETM1	MAP2K1	ATP6V1E1	PYGL	FBLN5	TCF4	TRMT10A	SIN3A	ANKRD55	CKAP2L	LMNA	IL2RA	MBD5	COQ7	RAB3GAP2	HLA-DQB1	PALB2	HYMAI	B3GLCT	SETBP1	PCNT	ACTB	IARS1	MCM4	GJB6	IGF1	COG7	EPB41
HP_RHIZOMELIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RHIZOMELIA	FLNB	PKDCC	IFT122	MAB21L2	COL11A1	GPX4	MBTPS2	DHCR7	MYSM1	POC1A	INPPL1	WDR35	GNPAT	DVL1	KYNU	ASXL1	COG1	KIAA0586	CEP120	FGFR1	CTSK	FGFR3	IFT52	TBX15	DYM	KMT2A	ACAN	GPC6	MMP13	B3GAT3	PTH1R	CFAP410	HDAC6	SIK3	CHST3	PEX7	B3GLCT	ALG12	FZD2	PCYT1A	TONSL	GSC	SLC26A2	CSPP1	CREB3L1	SHOX	MTOR	WDR19	IFT80	AGPS	ARCN1	ALG9	LBR	PRKG2	CEP57	GDF5	WNT5A	RMRP	DHCR24	CRTAP	IFT43
HP_CHILDHOOD_ONSET_TRUNCAL_OBESITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHILDHOOD_ONSET_TRUNCAL_OBESITY	INPP5E	MC4R	POMC	PCSK1	VPS13B
HP_NEONATAL_SHORT_LIMB_SHORT_STATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_SHORT_LIMB_SHORT_STATURE	EVC	EVC2	SLC26A2	GLI1	COL1A2	SOX9	DYNC2LI1	COL2A1	FGFR3	RMRP	COL1A1	PTH1R
HP_GENERALIZED_NEONATAL_HYPOTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_NEONATAL_HYPOTONIA	COG4	PEX16	PEX26	MT-TT	ADNP	BPTF	ATP2B3	PEX6	PSMD12	SUCLG1	PEX12	PEX2	MED12	PEX10	FIG4	GDAP1	PEX3	TBC1D24	VAC14	MTHFR
HP_MUSCULAR_HYPOTONIA_OF_THE_TRUNK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCULAR_HYPOTONIA_OF_THE_TRUNK	PNPO	SLC6A3	PTCH1	SPATA5	YIF1B	UNC80	MECP2	NALCN	RTTN	BRAT1	EXOSC3	HK1	SHH	FAR1	KCNQ2	KIDINS220	RYR1	SIX3	TSEN2	PRPS1	PNPT1	LMNB1	TGIF1	SLC19A3	STAG2	RNU12	OSTM1	PSAP	CDH2	OPA1	PYCR2	ATAD3A	GM2A	CACNA1G	IER3IP1	GRIK2	SLC16A2	SUCLG1	KIF1A	WARS2	UGP2	CDON	FOXH1	EBF3	DLL1	PDE10A	GDI1	FGF8	LMX1B	FGFR1	ZIC2	SOD1	CERT1	NEXMIF	CHP1	GLI2	EIF2S3	PAX7	NHLRC2	ATG7	ELP2	SLC18A2	PCLO	RNASEH2C	SLC6A9	MINPP1	DPAGT1	GLYCTK	IFIH1	PLA2G6	TDGF1	CTNNB1	RNU7-1	AP3B2	ERCC1	AP3D1	CHMP1A	NSMCE3	SMC1A	NEDD4L	RNASEH2B	PLP1	TH	GAS1	PPP1R15B	GLS	TSEN34	STIL	WDR73	TSEN15	SMG9	GALC	TRNT1	VPS11	SEPSECS	FDXR	TUBB3	DDC	CLCN6	SLC25A19	DDX6	DHPS	PDP1	GJC2	TUBB4A	SCN1A	MBOAT7	FARS2	NODAL	SLC39A14	STXBP1	SLC30A9	GFER	MRPL12	ABCC8	NDUFB11	TSEN54	GRIN2A	DISP1	VAMP2	AMPD2	PDE2A	ASNS	ACTL6B	SPR	PIGP	SAMHD1	DHDDS	GRIN1	TBC1D2B	ALG3	GAD1	ASXL1	PIK3R2	EXTL3	HTT	ADAR	NSUN2	ADCY5	WWOX	GPHN	PCBD1	INSR	NECAP1	PDHX	ERCC8	LIPT1	MICOS13	FARSB	GRM7	NMNAT1	TMTC3	KCNQ3	PTS	SCO1	OCLN	UBE3B	COG4	PRR12	UGDH	GRM1	DNAJC12	SOX10	PAM16	PAFAH1B1	PCCB	CLDN11	RAB18	PIGY	CASK	RUSC2	TARS2	NRROS	WDR45B	B4GALT1	ACSF3	MAN2B1	FAM126A	DCX	AP4S1	NONO	PCDH12	PMM2	ARX	ADARB1	UFC1	MFF	NDUFS2	GFM1	PTPN23	DARS1	VPS13D	PCGF2	VPS41	NDUFA1	TUBGCP2	TRAPPC12	PCCA	GFM2	DENND5A	RARS1	MRPS22	CACNA2D2	PLCB1	HACE1	ALG6	TRMT10A	SLC35A2	FGF12	TNR	RAB3GAP2	LRRC32	ALG11	PGAP1	PIGA	PSAT1	SLC13A5	TREX1	SATB1	GRIN2D	EMC1	NEUROD2	AIMP1	GRIA3	MDH1	NDUFC2	RNASEH2A	KCNMA1	KCNJ11	CACNA1E	ERCC6	GNPTAB	PARS2
HP_GENERALIZED_LYMPHADENOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_LYMPHADENOPATHY	RAC2	HLA-DRB1	LRBA	PRKCD	IFNGR1	RNF168
HP_ACUTE_RHABDOMYOLYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_RHABDOMYOLYSIS	RYR1	CACNA1S	TANGO2	LPIN1	CTDP1
HP_DISTAL_LOWER_LIMB_AMYOTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_LOWER_LIMB_AMYOTROPHY	MORC2	BSCL2	KDM5C	DYSF	GJB1	CPT1C	MT-TE	HSPB1	CADM3	FLNC	GIPC1	ATL1	ATXN3	TPM3	MFN2	LMNA	ADSS1	INF2	TCAP	MAG	NEFL	FLRT1	PMP22	KRT14	CUL4B	KRT5	KLC2	PDK3	YY1	TFG	HINT1	BICD2	FGD4	NOTCH2NLC	KIF5A	RYR1
HP_INFANTILE_MUSCULAR_HYPOTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFANTILE_MUSCULAR_HYPOTONIA	UBE3A	MOGS	FKRP	PTCH1	TRAPPC11	UNC80	RAI1	RTTN	ARID2	NEUROD2	DLK1	DPM1	CPE	SHH	CDC42	MT-ND3	SRPX2	RYR1	ASAH1	SIX3	SCN2A	TBC1D24	SCO2	TGIF1	SURF1	STAG2	RNU12	PCDH19	GABRA1	PSAP	SUCLG1	GLB1	PIGW	NUP62	GM2A	MAN1B1	SCN9A	DCHS1	PRMT7	PEX13	CDKL5	CDON	FOXH1	EBF3	DLL1	MT-ATP6	SMARCA4	TBCD	LRP5	FGF8	SNRPN	RPL10	FGFR1	ZIC2	PIGL	UGT1A1	GLI2	PAX7	ACADVL	LARGE1	DPAGT1	DOLK	UBTF	NEK1	ACADS	GNAO1	TDGF1	DEAF1	GAA	PACS1	SOX4	MED12	NALCN	NACC1	SMARCB1	SRD5A3	GAS1	SMARCC2	TSEN34	PIGQ	ATP6V1A	ZEB2	BMP2	STIL	PIGV	TSEN15	SCN1A	GALC	SMC1A	RAC1	MECP2	ARID1A	SEPSECS	TUBB3	KCNN3	ARX	KIF15	ATP10A	NKX2-1	MTRFR	SOX11	NODAL	SLC39A14	KCNA1	H19	SUOX	SMARCE1	NDUFB8	RTL1	ATRX	COQ2	TELO2	GFER	SMS	ARID1B	POGZ	TSEN54	GRIN2A	GTPBP3	DISP1	POMT1	CWF19L1	MT-TW	NDUFAF3	ATP6V1B2	MT-ND1	MAF	MT-TL1	COL5A1	GABRG2	TRIM8	ADNP	ADAT3	FAT4	MEG3	DPYD	TSEN2	ATP6V0A2	SYT1	DPF2	GMPPB	COG8	FGFR3	NAGS	PGAP3	KCNJ11	OCA2	SIM1	AHCY	SMARCD1	PGAP2	SPATA5	MT-TK	NTNG2	ADAR	IGF2	B4GALT1	SON	MAN2B1	SLC19A3	EFL1	SIK1	ITCH	USP9X	ERMARD	PI4KA	MT-TV	GRM7	PNKP	MFF	DMXL2	SIAH1	MPDU1	DNMT3A	KCNH1	CASK	CLTCL1	SCN1B	PIGO	AASS	MT-ND2	WARS2	GFM2	SATB2	TUBB2B	RARS1	ATP6V1E1	TRPS1	MT-ND4	COG5	SLC35A2	MT-ND6	POMT2	ALG11	ADGRG1	DAG1	NDUFS2	ASXL3	PSAT1	ITGA7	PIGY	MT-ND5	UBA1	CLCN4	PIGP	SLC7A7	GLYCTK	EXTL3	SLC25A22	PDSS2	MAGEL2	GNB1	SARDH	GAMT	NEU1	GATAD2B
HP_INTRINSIC_HAND_MUSCLE_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRINSIC_HAND_MUSCLE_ATROPHY	SQSTM1	DYSF	GDAP1	CHCHD10	CAV3	KLHL9	TIA1	LDB3	VCP	FLNC	HINT1	JAG1	SVBP	RYR1	PMP22	HARS1	NGLY1	MPZ
HP_DISTAL_UPPER_LIMB_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_UPPER_LIMB_MUSCLE_WEAKNESS	CACNA1A	MORC2	TTN	HK1	TIA1	JAG2	LMNA	CADM3	FLNC	SORD	MME	SPTLC2	GIPC1	SBF2	ADSS1	HARS1	VWA1	SCN1A	SQSTM1	GDAP1	DYSF	PRRT2	GMPPB	VCP	TNR	NOTCH2NLC	ATP1A2	RYR1	NDRG1	HSPB3
HP_TIBIALIS_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TIBIALIS_MUSCLE_WEAKNESS	MYH7	GNE	DYSF	GIPC1	MTRFR	NOTCH2NLC	TTN
HP_EXERCISE_INDUCED_MUSCLE_STIFFNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXERCISE_INDUCED_MUSCLE_STIFFNESS	PYGM	ATP2A1	SCN4A	PHKA1	SLC16A1	CAV3
HP_MUSCLE_HYPERTROPHY_OF_THE_LOWER_EXTREMITIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_HYPERTROPHY_OF_THE_LOWER_EXTREMITIES	DYSF	FKRP	LTBP4	SRY	BIN1	DNM2	POMT2	TTN	DAG1	PLEC	CHCHD10	CAPN3	FRG1	SGCG	DMD	CRPPA	SGCB	ANO5	LMNA	KCNA1	LIMS2	FKTN	GMPPB	SGCD	MAP3K20	POMGNT2	MYF6	POPDC3	TCAP	LAMA2	MICU1	POMT1	RASA1	MTMR14	PMP22	AR	PLIN1	UNC45B	RYR1	SGCA	DPM3	LARGE1	CLCN1	CIDEC	CAV3	DHX16	SLC25A1
HP_LEG_MUSCLE_STIFFNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEG_MUSCLE_STIFFNESS	DARS2	VAMP1	ATP13A2	MT-ATP6	ABCD1	LDB3	ANO10	ZFYVE26	PI4KA	KIF1A	SPAST	PODXL	KIF5A	DNAJC6	SYNJ1
HP_PROXIMAL_MUSCLE_WEAKNESS_IN_LOWER_LIMBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_MUSCLE_WEAKNESS_IN_LOWER_LIMBS	DYSF	COL12A1	CPOX	BIN1	DNM2	TMEM43	LMNA	DYNC1H1	FLNC	SORD	ATP7B	SBF2	VMA21	HMBS	LIPE	ADSS1	VWA1	RRM2B	DMD	TRIM32	FHL1	VCP	SECISBP2	TTN	GDAP1	SYNE1	MORC2	SLC25A4	CHCHD10	ANO5	JAG2	MYH7	TWNK	POLG2	COL6A1	MYF6	MFN2	POPDC3	CRPPA	TCAP	REEP1	PIGN	LAMA2	NEFL	SYNE2	MTMR14	DMXL2	COL6A2	EMD	POLG	COL6A3	SMN1	RYR1	POGLUT1
HP_PROXIMAL_MUSCLE_WEAKNESS_IN_UPPER_LIMBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_MUSCLE_WEAKNESS_IN_UPPER_LIMBS	DYSF	CHRND	CPOX	BIN1	DNM2	TMEM43	GIPC1	SBF2	HMBS	LIPE	FBXO38	ADSS1	LMNA	VWA1	DOK7	MUSK	FHL1	CHRNE	LPIN1	ANO5	AGRN	LRP4	VCP	JAG1	MT-CO1	CHRNA1	NOTCH2NLC	SYNE1	MORC2	CHCHD10	CHRNB1	SCN4A	LDB3	JAG2	MYH7	MYF6	MFN2	CRPPA	TCAP	AK9	LAMA2	NEFL	GDAP1	RAPSN	SYNE2	MTMR14	GMPPB	EMD	KY	MT-CO3	POMT1	RYR1	COL13A1	PPOX
HP_HYPOPLASIA_OF_THE_MUSCULATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_MUSCULATURE	ALG9	SELENON	TPM2	TPM3	CAV3	ITGA7	PMP22	HACD1	ACTA1	MAP3K7	SALL4	GLE1	FBN2	MYL2	COLEC11	RBM8A	MYMK	HBB	MAP3K20	FLNA	ATP6V0A2
HP_WEAKNESS_OF_THE_INTRINSIC_HAND_MUSCLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WEAKNESS_OF_THE_INTRINSIC_HAND_MUSCLES	CHRND	CHRNB1	SCN4A	KLHL9	LDB3	CADM3	FBXO38	CHRNA1	AK9	DYSF	DOK7	RAPSN	MUSK	CAV3	CHRNE	STIM1	AGRN	VCP	NEB	LRP4	HINT1	COL13A1
HP_EXERCISE_INDUCED_MUSCLE_FATIGUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXERCISE_INDUCED_MUSCLE_FATIGUE	CACNA1S	PGK1	GABRA3	DBH	SCN4A	TRAPPC11	AMPD3	KCNJ18	SLC16A1	AMPD1	KCNE3
HP_ABDOMINAL_WALL_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABDOMINAL_WALL_MUSCLE_WEAKNESS	CAPN3	PTEN	SKI	MAP2K2	NF1	VDR	GYG1	MYH7	SMCHD1	CYP27B1	PIGQ	FRG1
HP_INCREASED_CONNECTIVE_TISSUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CONNECTIVE_TISSUE	NEB	PLEC	LMOD3	CHCHD10	KLHL40	UROS	MC4R	INPP5K	MAP3K20	GATA1	MT-TK	PCSK1	LIPE	LMNA	DYSF	NEFL	TCAP	ANO5	POMC	KLHL41	ACTA1	RYR1	AIFM1	LIMS2	TNXB	LAMA2	TNPO3	AKT2	POLR3A
HP_FOOT_DORSIFLEXOR_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOOT_DORSIFLEXOR_WEAKNESS	SACS	DYSF	COL12A1	COA7	ACTN2	SPG11	GBF1	RAI1	ALDH18A1	NEB	ATP1A1	CADM3	PRX	GIPC1	TIA1	FA2H	INF2	PMP22	LMNA	SQSTM1	ACTA1	KLHL41	ORAI1	VCP	MME	HINT1	LBR	ATL3	DNAJB2	MORC2	JAG1	MPZ	LRP12	TTN	MARS1	IGHMBP2	LIG3	PNPLA2	TRPV4	TPM2	LDB3	ATL1	MYH7	GYG1	SMCHD1	DES	GDAP1	TCAP	NEFL	CRYAB	MTRFR	RRM2B	TPM3	LRSAM1	TBCE	COL6A2	COL6A3	HSPB1	NF2	SBF2	EGR2	SPTLC1	SPTLC2	SELENON	ITGA7	POLG	MFN2	FLNC	LMOD3	CFL2	ADSS1	VWA1	AARS1	SCO2	SLC25A21	KY	HACD1	KIF1B	COX20	SYT2	FHL1	LYST	SH3TC2	NOTCH2NLC	MYOT	GJB1	COX6A1	KARS1	SIGMAR1	MYL2	GNB2	MCM3AP	COL6A1	MAP3K20	RAB7A	GNE	TYMP	MPV17	BSCL2
HP_EXERCISE_INDUCED_RHABDOMYOLYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXERCISE_INDUCED_RHABDOMYOLYSIS	ACADVL	RYR1	PYGM	CACNA1S	ALDOA	LDHA
HP_DIFFICULTY_RUNNING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFICULTY_RUNNING	TPM3	PYROXD1	MT-TE	DYNC1H1	FLNC	VMA21	KBTBD13	TTN	FBXO38	GFPT1	SGCG	ADSS1	SPEG	RYR1	NEFL	ANO5	DYSF	MEGF10	STIM1	ALG2	VCP	COL12A1	FKRP	MYPN	PNPLA2	BICD2	MORC2	BIN1	GMPPB	MFN2	POPDC3	TCAP	REEP1	LAMA2	MICU1	KCNC3	KY	PEX2	DPAGT1	TNPO3	ALG14	TPM2
HP_PERONEAL_MUSCLE_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERONEAL_MUSCLE_ATROPHY	SACS	HINT1	VPS13A	TTN	TRPV4	PMP22	DES	LMNA	WASHC5
HP_INCREASED_MUSCLE_GLYCOGEN_CONTENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_MUSCLE_GLYCOGEN_CONTENT	PFKM	PYGM	MSTO1	ENO3	PHKB	PHKA2	MT-TE	PHKG2	TRMU
HP_DISTAL_LOWER_LIMB_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_LOWER_LIMB_MUSCLE_WEAKNESS	BSCL2	DYSF	ABCD1	SYT2	HK1	VHL	MYO9A	AGRN	LMNA	TTN	FLNC	SORD	MME	SPTLC2	GIPC1	SBF2	PLEC	IBA57	CHAT	SCYL1	ADSS1	VWA1	GNE	VAMP1	PMP22	ANO5	PNKP	VCP	NOTCH2NLC	SECISBP2	NDRG1	HSPB3	MORC2	MTTP	CHCHD10	TDP1	PNPLA6	TRPV4	SLC25A1	SLC5A7	CPT1C	JAG2	MYH7	TPM3	ATL1	DES	MFN2	MAPT	HARS1	TCAP	NEFL	SLC18A3	GDAP1	MTRFR	HSPB1	GJB1	MT-ATP6	SNAP25	GMPPB	COL13A1	EXTL3	HINT1	FGD4	GARS1	SARDH	HSPB8	REEP1
HP_GENERALIZED_LIMB_MUSCLE_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_LIMB_MUSCLE_ATROPHY	DARS2	GMPPB	MYH7	ACTA1	SCO2	NEB	YARS2	SPG11	PUS1	KLHL41	TPM3	LEMD3	PNPLA6	CARS1	SGCD	MYPN	SCYL1	TPM2	KBTBD13	PNPLA2
HP_INCREASED_MUSCLE_LIPID_CONTENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_MUSCLE_LIPID_CONTENT	CPT2	GABRA3	PNPLA2	COL12A1	TTN	ACTA1	SELENON	MSTO1	NEB	NDUFA4	NDUFS4	KLHL41	SDHA	CACNA1S	COX6A2	COL6A1	SCN4A	COL25A1	KCNE3	MYH7	AFG3L2	ISCU	ABHD5	KCNJ18	MT-TE	COL6A2	CHCHD10	SURF1	TPM3	SUCLG1	COL6A3	ZFHX4	MYPN	TPM2	MT-TN	KBTBD13	COQ8A	TRMU
HP_INFANTILE_AXIAL_HYPOTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFANTILE_AXIAL_HYPOTONIA	DLL1	MFF	GLI2	PTCH1	TDGF1	NODAL	RTTN	GAS1	TSEN34	SHH	WARS2	FOXH1	GFM2	RYR1	RARS1	STIL	ZIC2	TSEN15	SIX3	GALC	SMC1A	TGIF1	TSEN2	STAG2	RNU12	SEPSECS	FGFR1	TUBB3	PSAP	CDON	DISP1	GM2A	SLC39A14	FGF8	PSAT1	GFER	TSEN54	GRIN2A	B4GALT1	MAN2B1	EXTL3	PAX7	DPAGT1
HP_PROGRESSIVE_DISTAL_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_DISTAL_MUSCLE_WEAKNESS	MYOT	CAV3	TRPV4	KLHL9	HADHB	CRYAB	HADHA	MYH14	LDB3	NEB	GIPC1	NOTCH2NLC	PNPLA2
HP_GENERALIZED_LIPODYSTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_LIPODYSTROPHY	PSMG2	BSCL2	CAV1	KCNJ6	ZMPSTE24	LMNA	MTX2	FBN1
HP_DECREASED_ACHILLES_REFLEX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_ACHILLES_REFLEX	MYH7	CRYAB	DYSF	IBA57	FBXO38	GDAP1	ADSS1	LDB3
HP_PROGRESSIVE_PROXIMAL_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROGRESSIVE_PROXIMAL_MUSCLE_WEAKNESS	DYSF	COL12A1	ABHD5	TRAPPC11	MYOT	TK2	MT-TL2	MT-TN	ANO5	LDB3	CRYAB	MT-TE	COL6A2	MT-TL1	NEB	GIPC1	PYGM	COL6A3	PLEC	COL6A1	NOTCH2NLC	PNPLA2
HP_WEAKNESS_OF_LONG_FINGER_EXTENSOR_MUSCLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WEAKNESS_OF_LONG_FINGER_EXTENSOR_MUSCLES	SQSTM1	GNE	DOK7	RAPSN	MUSK	CHRND	CHRNB1	CHRNE	SCN4A	TIA1	LDB3	AGRN	NEB	LRP4	HINT1	COL13A1	CHRNA1	MYH7	AK9
HP_ALVEOLAR_RIDGE_OVERGROWTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALVEOLAR_RIDGE_OVERGROWTH	NTRK1	RBM10	DHCR24	SNRPN	BRF1	SH3BP2	OFD1	TBX15	CD96
HP_SPEECH_ARTICULATION_DIFFICULTIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPEECH_ARTICULATION_DIFFICULTIES	TP63	STAG2	IRF6	SLC2A3	MAGEL2	NDN	FRRS1L	UBB	NF1	HTT	PLCB4	MAPT	SNRPN	SH2B1	GRIN2A	GNAI3	NECTIN1	MSX1	FOXP1	BMP4	ARHGAP29	DLG1	GABRG2	GRHL3	ALDH4A1	GALT	SRPX2	DLX4	OCA2	CDH1
HP_CHRONIC_ORAL_CANDIDIASIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_ORAL_CANDIDIASIS	AIRE	TFRC	PIK3CD	AP3B1	CD247	IL2RG	CARD9	ZAP70	IL17RA	CD3E	KNSTRN	WDR1	MVK	JAK3	DCLRE1C	CD3D	IL2RA
HP_MEDIAN_CLEFT_PALATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEDIAN_CLEFT_PALATE	FOXA2	FZD2	GLI2	PTCH1	SIX3	FAM20C	NUAK2	LHX4	LBR	STAG2	DVL3	ALX3	DVL1	POU1F1	TGIF1	HESX1	WNT5A	SLC2A10	ZSWIM6	OTX2	PITX1	PROP1
HP_ANTERIOR_OPEN_BITE_MALOCCLUSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_OPEN_BITE_MALOCCLUSION	AMELX	FAM83H	DSPP	ENAM	KCNH1	RELT	GPR68	ATP6V1B2	ITGB6	KCNN3	KLK4	GNAI3	MMP20	BMP2
HP_APLASIA_HYPOPLASIA_INVOLVING_THE_PELVIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_PELVIS	CANT1	IFNGR1	RTL1	CHD4	RSPO2	COL2A1	PIGG	TMEM67	RUNX2	EXOC6B	TRAPPC2	MTX2	RAD21	DDRGK1	CUL7	COMP	ERCC8	SHOX	POC1A	CPLX1	INPPL1	IHH	MATN3	KAT6B	SLC10A7	NANS	CEP120	B3GALT6	HSPG2	XYLT1	SMARCAL1	WNT7A	TBX15	CCDC8	AIFM1	RSPRY1	FN1	CTC1	NELFA	FGFR3	SLC39A13	CFAP410	PIK3C2A	SLC26A2	CHST3	INTU	SETBP1	PEX5	BMPR1B	IFT140	POP1	LETM1	CCN6	TONSL	DLK1	MEG3	OBSL1	NSD2	ERCC6	TRPV4	WNT3	ABCC9	CTBP1	TRAF3IP1	MMP9	COL11A2	NSDHL	IDUA	PORCN
HP_APLASIA_HYPOPLASIA_OF_THE_PUBIC_BONE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_PUBIC_BONE	COL2A1	MATN3	INTU	PIGG	ABCC9	HSPG2	SETBP1	CTBP1	LETM1	CUL7	WNT7A	COL11A2	TBX15	CCDC8	CPLX1	INPPL1	NELFA	KAT6B	OBSL1	NSD2
HP_ABNORMAL_OSSIFICATION_OF_THE_PUBIC_BONE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_OSSIFICATION_OF_THE_PUBIC_BONE	FIG4	COL2A1	GJB6	FGFR2	RUNX2	GJB2	GSC	NKX3-2
HP_ABNORMAL_PELVIS_BONE_OSSIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PELVIS_BONE_OSSIFICATION	FIG4	COL2A1	DYNC2H1	FGFR2	LBR	RUNX2	GJB2	GSC	GJB6	DYNC2I2	IFT80	LEMD3	WDR35	DYNC2I1	NKX3-2
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	PROP1	DYM	TSHR	LHX4	LHX3	COMP	SLC26A2	DUOX2	DUOXA2	HESX1	CSPP1	TSHB	POU1F1	SLC5A5	KIAA0586	B3GALT6	ARSL	TPO	COL2A1	LBR	IYD	TG	UFSP2	RNU4ATAC	MATN3	FLNB
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	CANT1	IFNGR1	RTL1	CHD4	COL2A1	TMEM67	RUNX2	EXOC6B	TRAPPC2	MTX2	RAD21	DDRGK1	COMP	SHOX	POC1A	IHH	MATN3	SLC10A7	NANS	B3GALT6	XYLT1	AIFM1	RSPRY1	FN1	CTC1	FGFR3	SLC39A13	CFAP410	PIK3C2A	SLC26A2	CHST3	PEX5	BMPR1B	IFT140	POP1	CCN6	TONSL	DLK1	MEG3	TRPV4	TRAF3IP1	MMP9	IDUA
HP_DIAPHRAGMATIC_EVENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIAPHRAGMATIC_EVENTRATION	MYOD1	LRP2	IGHMBP2	PLOD3	GNB2	MTM1	CHRNG	DNAJC19	WT1	TRIP4	ZNF699	ASNS	ARID2	STRA6
HP_DIAPHRAGMATIC_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIAPHRAGMATIC_WEAKNESS	COL6A3	SLC52A3	MORC2	TRPV4	TPI1	MEGF10	COL12A1	BAG3	COL6A2	PMP22	IGHMBP2	COL6A1	GAA	TTN
HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SKELETON	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SKELETON	LMNA	SEM1	LMNB2	KAT6A	AGRN	TBCE	PYROXD1	LZTFL1	DDRGK1	NALCN	RTTN	CLCN4	RB1	HYLS1	XYLT1	SALL4	RRAS	COL1A2	DPM2	RAC3	GPC3	NKX3-2	SNRPN	BCOR	HSPG2	SPRTN	CHSY1	EXT2	IGFALS	MED27	IFT140	HDAC4	FAM149B1	RUNX2	TGFB1	ZMPSTE24	ERCC3	FANCF	UBE2T	KATNB1	ERCC4	FANCD2	COASY	PAH	RBM10	BMPR1B	FZD2	IRF6	PRMT7	WDR19	CTSK	ZIC3	CHRNG	RAD51C	TRIP4	FGF10	TBCD	SLC39A13	MYCN	EMC10	PHF21A	FGFR2	MITF	HESX1	TNNI2	TRIP12	HOXD13	MMP13	DHODH	FANCC	GMNN	NAA10	PHYH	SMARCB1	MEG3	RARB	WIPI2	EFEMP2	RMRP	MAD2L2	KIDINS220	FANCA	CLCN3	TGFBR1	FGFR3	FBXW11	PIK3C2A	IDH1	FAM20C	RPL35A	RAI1	TCF20	RPS26	NIPBL	CD96	FLNA	PSAT1	PEX12	IFT81	SCYL2	ZNF711	RTL1	TARS1	TONSL	ARID1B	RPS15A	WDR35	CSPP1	SEMA5A	ALX3	RLIM	GATA1	ZDHHC9	KCNN3	GALNT2	TGFBR2	GNPTAB	RAB3GAP2	STAMBP	DYRK1A	MAGEL2	MYT1L	FIG4	OCA2	PKHD1	PKDCC	SPEN	RPL15	ADAT3	RSPO2	GDF5	LONP1	KAT6B	RAD21	PLAA	COL13A1	LEMD3	RAB3GAP1	VPS13B	TBX1	COL9A1	KCNH1	VARS1	KRAS	LIG4	NODAL	OFD1	MYPN	COL2A1	ATAD3A	HOXA13	SIK3	MGP	PEX26	PAM16	NDN	COL9A2	PIGL	HPDL	SLC26A2	SMARCD1	PEX5	HELLS	CSGALNACT1	STAC3	PDE4D	EMG1	BUD23	FANCE	ALG6	DNAJC30	DNA2	GRIP1	BRAT1	ACTL6B	CHRND	RNU4ATAC	PNKP	PUS7	SPATA5L1	LGI4	LMBR1	FLI1	SELENON	FLVCR2	TWIST2	SYNCRIP	KLHL41	PTEN	SCN1B	DEAF1	CRLF1	TAPT1	PTCH1	AGO2	RPS19	FGFR1	EMC1	HACD1	TMEM107	GGCX	NOG	PIK3R1	OSGEP	ADAMTS10	PIGT	PDHA1	GNAI3	ACAN	MKS1	TRIP13	ACTA1	IQSEC2	EP300	TRPV4	ADGRG1	DVL3	SPTBN1	CHST3	ATP6AP2	GPX4	MAPRE2	YARS1	USP27X	KNL1	VANGL1	PIGQ	ALG14	PLXND1	NDUFB11	KAT8	IFT172	ZNF81	WNT7A	AFF4	ATP6V1B2	COX4I1	RECQL4	BRCA1	MYOD1	COL1A1	APC	DYNC2I1	HDAC8	FLNB	PURA	COMP	IFT122	CPE	KDM4B	ASAH1	SMOC1	EBP	CTBP1	CEP152	TCTN2	MEGF8	NSMCE2	GLB1	GABBR2	ACTG1	COL11A2	TFAP2A	PSMD12	ZMIZ1	ALG12	PEX7	TBC1D24	CENPE	CENPF	RAPSN	AMER1	TPM2	CDK5	CDKL5	TMEM237	FANCI	MAFB	LZTR1	KNSTRN	SHOX	CERT1	GJA1	RPL5	SCUBE3	TNRC6B	ACTG2	UFD1	SEC24D	DPAGT1	CCBE1	EN1	GHR	CDKN1C	PRRX1	GNAS	FGF3	SYT2	DIS3L2	LHX4	TFAP2B	COL3A1	CRIPT	TRAPPC2	CEP290	KCNAB2	PPP1R15B	SF3B4	DMD	COG1	NUP107	EDNRA	WASHC5	OCRL	IHH	DSE	ACSL4	SOS1	ACTL6A	FN1	BMP2	UBR7	MSTO1	CPLANE1	SETD5	SETBP1	PDE3A	MAP3K7	GSC	NSUN2	TBXT	MYL2	MAPK1	PEX3	ADA	MCM5	NRAS	MED12	MUSK	ALX4	NEB	SNRPB	LTBP4	MASP1	HS2ST1	IGF1	AFF3	PEX1	SRCAP	CPLX1	SLC35D1	SIX2	PAX6	ESCO2	EFTUD2	PEX11B	DCLRE1C	VAMP1	BPTF	B3GALT6	NEK9	PTH1R	PQBP1	SPEG	PGAP3	XRCC2	CNOT3	KIFBP	TUBB	SATB2	KIF7	TAF1	BAZ1B	RFT1	TCTN3	TP63	ARX	TRAF3IP1	ERMARD	PLK4	LBR	TXNDC15	SIN3A	ROR2	UBE3B	DYNC2LI1	PDE6D	ERBB3	NBN	GLUL	CHST14	TBX4	C12orf57	ZNF292	ASXL3	UPF3B	FBN1	INTS1	RPS6KA3	SEC31A	ZMYM2	RPL31	TRAIP	NSD1	RFWD3	ANKLE2	PLCB4	B3GLCT	WDR73	TSR2	TOE1	CLIP2	GTF2IRD1	CEP55	SPECC1L	HCFC1	KLHL15	COG7	ADAMTSL2	CWC27	B9D1	IL7R	PRKACB	CDC6	FLCN	EOGT	BRAF	SFRP4	ABCC9	MMP9	EVC	GTF2I	SCN2A	ARSL	SUCLG1	DOCK6	AHDC1	HCCS	GPC4	INTU	MPLKIP	RAG1	SLC25A1	ALG1	LETM1	DLK1	CANT1	EYA1	ACTB	SMARCA4	FTSJ1	OBSL1	MYO18B	TBX6	PTCH2	NEK1	SLC25A24	TBCK	SMC1A	FUT8	ARHGAP31	MAPK8IP3	MRAS	HNRNPU	ZNF335	BUB1B	NTNG1	HPGD	CCL2	KIAA0586	MKRN3	RPS10	COL9A3	WDR26	TASP1	CCN6	ATRX	AUTS2	PIGV	PRDM16	FANCL	RAB18	MTOR	VPS53	PIGN	POU1F1	NHS	HOXB1	NSD2	GLE1	COL6A2	COL11A1	CCDC32	FAT4	TBL1XR1	ARL6IP6	HBA1	ATP7A	TRIP11	FGD1	MBTPS2	PIGF	ASXL1	CAMK2G	RERE	KCNJ6	KYNU	TRRAP	USP9X	SIL1	PIEZO1	SLC35A3	INPPL1	SIM1	KIF22	KIAA0753	DOK7	MYMK	HMGA2	BMP4	MACROH2A1	ATR	KCNJ2	PGAP2	BLM	FRMPD4	SIK1	PI4KA	CDK10	GRM7	TCOF1	PCNT	MRPS28	BMPR1A	TMEM67	TNFRSF11A	PPIB	RPS24	MYSM1	CDT1	SMARCA2	LAGE3	TRIO	POMGNT1	BTRC	EDN1	LMX1B	SALL1	PIK3CD	NUP88	ADAMTS2	HHAT	TRPS1	POLR1B	RDH11	ARSB	ANKRD11	DYM	PAPSS2	SKI	PIGO	CC2D2A	SATB1	B2M	UBE2A	CHRNA1	BRCA2	DYNC2H1	NXN	CEP57	AEBP1	GATAD2B	NOTCH3	MLXIPL	SUFU	GDF11	ABCD4	ARID2	ZBTB18	NEUROD2	SMAD4	AKT1	XRCC4	MCTP2	SRPX2	ZNF41	PRKAR1A	IGF2	PSMB8	ALDH18A1	TMEM231	VAC14	PUF60	BGN	PROP1	ALOX12B	KMT2D	SHH	RBPJ	UBE4B	ARCN1	WRN	ARVCF	EPS15L1	TPM3	EVC2	KIF14	SUZ12	SNAP25	CREBBP	NOTCH2	HUWE1	CNKSR2	BBS1	TANC2	TBX3	MAB21L2	KIF5C	SOX4	DDX6	BCAS3	SMARCC2	TBX15	RPS20	LFNG	NPR2	VANGL2	RAC1	ERCC6	SP7	CTC1	MYBPC1	GPC6	MMP23B	IFT43	NIN	HAAO	GUSB	NSDHL	CLCN7	AGA	GTF2H5	DACT1	RPGRIP1	COL12A1	LAS1L	POMT2	PEPD	RPL26	IFT57	CHN1	PRKACA	COL10A1	TRIM8	ALX1	FGFRL1	CUL7	IGF1R	HTT	ANK1	FBXL4	DPYD	STAG1	CCDC47	BRIP1	PTHLH	PUM1	RIPK4	AIFM1	PEX10	PAX1	DPF2	SOX6	ATRIP	SSR4	BHLHA9	NUP133	ZBTB20	STX1A	RAB33B	SCARF2	CCDC22	PLCB3	P4HB	RAB23	EFNB1	DNMT3A	RPL11	ERCC2	CHST11	ALG13	SLC18A3	TMEM70	HINT1	DHCR24	PIEZO2	MINPP1	NGLY1	JMJD1C	SHROOM4	BCR	GTF2IRD2	MIR140	MTX2	UBA1	PTPN11	LUZP1	TRMT10A	DYNC2I2	EZH2	PIGA	GABRD	TBX5	IFT80	WNT3	PRKG2	DNMT3B	ORC4	SLC25A22	SMCHD1	EDA2R	NFIX	C1R	JARID2	LARGE1	IFNGR1	FAM50A	FKTN	NTNG2	UNC80	MECP2	MYO9A	CCDC28B	SMG8	RIT1	SUMF1	CEP120	MYF5	PLA2G6	FBN2	EIF4H	PIGW	CTU2	LIFR	SLC2A10	WDR4	TWIST1	HMX1	OTX2	RSPRY1	AGPS	RPL10	CASK	BICD2	CRKL	CILK1	FRAS1	SC5D	LRP4	SMC3	SEMA3E	PTPN23	B4GALT7	SOX2	ERCC1	FKBP10	POLR1D	SHANK3	COG4	PEX6	RPL27	FANCB	HRAS	KDM6A	PSPH	WDFY3	SLC25A19	ALMS1	ECEL1	D2HGDH	FUCA1	KCNA1	HDAC6	TELO2	PITX1	JAG1	HYOU1	MEIS2	TCIRG1	BCORL1	METTL27	SLCO2A1	NPAP1	DHCR7	PPP1R12A	ALOXE3	TMCO1	PEX16	ERGIC1	CENPJ	BDNF	GALNS	GLI3	ELN	TENT5A	FERMT1	C2CD3	COG8	KMT2E	RBBP8	ERCC5	FKBP6	PIGB	BRD4	EDA	SLC6A17	SNIP1	PIK3CA	KCNK9	TGDS	ANAPC1	MSL3	PUS1	TCF7L2	PHIP	CLCF1	PEX14	TSEN54	CLTCL1	SOX9	VPS37D	POC1A	LOXL3	MATN3	FDFT1	GBA	PTDSS1	TCF4	PHF6	CCDC8	WNT10B	EIF2AK3	SNORD115-1	DLL4	DYNC1H1	LRRC32	ANTXR2	HYMAI	ORC6	MSX2	ACVR1	SETD1A	MET	ACP5	PORCN	TNNT3	SVBP	SERPINH1	IDH2	ORC1	PIGG	RINT1	TTN	DONSON	ZBTB24	RAF1	CNTNAP1	OSTM1	SPRED1	KBTBD13	ANTXR1	TBX22	RPS28	PRKCZ	EXT1	DCHS1	CTDP1	SIX1	RPL35	HES7	FKRP	NECTIN1	ALPL	CUL4B	BPNT2	ADNP	HIRA	PALB2	CHAT	ARL6	COL6A3	MNX1	FANCG	PIGS	RPGRIP1L	PDPN	GJB2	NOTCH1	TSPAN7	PDGFRB	SOS2	SEC24C	CDCA7	TRIM37	TRPV6	CDC45	ANKRD17	B9D2	IL1RAPL1	GAD1	TMEM216	ABCA12	NUP85	USP7	TAB2	FOXF1	KMT2A	DLX5	OCLN	SLX4	DNAJC21	PCYT1A	PIGY	HBA2	CHD7	FMR1	RNF2	SMO	INPP5K	KPTN	RRAS2	IDUA	CRTAP	PCGF2	YARS2	KCNJ8	HERC2	NKX2-6	STRA6	SOX11	PEX2	HEPHL1	GEMIN4	ALG9	SLC35A2	MBD5	WASF1	RELN	SLC35C1	PPP3CA	CTNND2	PTCHD1	SON	RPS29	EPG5	RREB1	CBL	EXTL3	SH3PXD2B	GJB6	RBM8A	DVL1	SPART	WDR81	COMT	EXOC6B	TRMT1	RAD51	RAG2	DPM1	NCF1	DOCK3	FBXO11	KDM1A	YY1	TOR1A	NELFA	POLR1C	RPL18	DZIP1L	YY1AP1	MMP2	TPRKB	DDR2	DNAI1	GTF2E2	SLC29A3	MADD	DPYSL5	GNAO1	PLAG1	MID1	PHGDH	CHD4	KDM5C	WAC	ITGA7	NEDD4L	CA2	EED	RHOBTB2	LMOD3	KCNMA1	SLC10A7	ARHGEF6	BCL7B	MYH3	COL5A1	CHUK	PPM1D	ARID1A	NEPRO	TOPORS	GPKOW	POLD1	POR	MAP3K20	SMARCE1	IFT52	BRF1	STAG2	CCNQ	VPS33B	FBXL3	SLC12A2	RFC2	POMT1	LTBP3	DLG3	MYH8	BICRA	SPRED2	SLC5A7	IRX5	GRIA4	ADGRG6	PLAGL1	LTBP2	RAB39B	REV3L	NBAS	TCTN1	BMPER	DSTYK	NFASC	DMXL2	FLII	HNRNPH2	AGTR2	WNT5A	CFL2	ADA2	BUB1	FUZ	CFAP410	COX7B	TTC21B	GP1BB	PAK3	SNORD116-1	NDE1	AMMECR1	FGF9	SRY	VPS35L	EIF4A3	ZNF341	MED13	GDI1	LIMK1	CNOT2	KCNK4	RPS17	RPS7	HSD17B4	POP1	SPOP	SIX6	SLC9A7	GLI1	CUL3	CDH11	PAX7	COL6A1	RPS27	ZNF699	BCL11B	POLR1A	LHX3	GNPAT	PGM1	PALS1	NANS	TBC1D20	PEX19	TUBB3	POLR3A	WT1	SYP	KIF15	MIA3	TXNL4A	ZNF407	STXBP1	GNB2	SLC37A4	GNAS-AS1	BUB3	TBL2	C1S	PWAR1	AP1G1	ASNS	RASA2	FANCM	DPH1	POLE	IL2RG	TMEM270	NCAPG2	P3H1	PEX13	ZSWIM6	B3GAT3	TP53RK	MIR17HG	MID2	RNF113A	CASZ1	MECOM	LMBRD2	STEEP1	GATA4	NF1	SH2B1	MAP2K1	KCNJ5	PPP2R3C	SLC39A8	BANF1	IKBKG	PWRN1	IPO8	ZC4H2	CSNK2A1	CREB3L1	LEMD2	MYH7	EIF5A	PIGP	TRAPPC4	DLX6	STX16
HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SINUSES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_SINUSES	FLNA	DNAI1	FUCA1	NOTCH2	RUNX2	COL11A1	AGA	ALX1	SIX2	SMCHD1	ALX3	PDE4D	TRIM37	SFRP4	CTSK	PRKAR1A	ATRX	AMER1
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	RERE	FKTN	OFD1	NTNG2	UNC80	MECP2	KAT6A	MYO9A	AGRN	TBCE	PYROXD1	DDRGK1	NALCN	RTTN	COL2A1	DLK1	RB1	HYLS1	SMG8	SALL4	RRAS	COL1A2	DPM2	RAC3	GPC3	RIT1	NKX3-2	SUMF1	KLHL41	FANCC	CEP120	PEX3	MYF5	HSPG2	PLA2G6	SPRTN	CHSY1	EXT2	PIEZO2	FBN2	IGFALS	MED27	EIF4H	FAM149B1	PIGW	RUNX2	ZMPSTE24	ERCC3	FANCF	CTU2	KATNB1	ERCC4	PRRX1	FANCD2	COASY	ERCC2	PAH	RBM10	LIFR	DYNC2H1	IRF6	B9D1	SLC2A10	WDR4	LMNA	TWIST1	CTSK	XRCC4	HMX1	CHRNG	OTX2	TRIP4	RAPSN	TBCD	MYCN	RPL10	NSDHL	PTEN	CASK	LBR	BICD2	ESCO2	EMC10	PHF21A	CILK1	MITF	FRAS1	ATP7A	SC5D	LRP4	SMC3	TNNI2	SEMA3E	CHST3	PTPN23	TRIP12	DHODH	GMNN	NAA10	B4GALT7	SOX2	ERCC1	MEG3	AEBP1	RARB	CPLX1	POLR1D	EFEMP2	RMRP	MAD2L2	KIDINS220	SHANK3	FANCA	COG4	SKI	CLCN3	PEX6	RPL27	SMC1A	TGFBR1	WNT7A	FGFR3	HRAS	PSPH	FGF3	FBXW11	WDFY3	SLC25A19	FAM20C	RPL35A	SMOC1	ECEL1	DYNC2I1	TCF20	RPS26	NIPBL	D2HGDH	CD96	FLNA	PSAT1	PEX12	FUCA1	IFT81	PDE4D	HDAC6	SCYL2	RTL1	TARS1	TELO2	RPS15A	IFT43	HYOU1	CSPP1	SEMA5A	ALX3	TCIRG1	BCORL1	RLIM	ZDHHC9	METTL27	RNU4ATAC	DHCR7	TGFBR2	CREBBP	GNPTAB	TRIP11	BCOR	RAB3GAP2	PPP1R12A	COL11A2	PIGN	CEP57	TMCO1	MYT1L	PEX16	FIG4	PKHD1	ERGIC1	PKDCC	CENPJ	SPEN	RPL15	ADAT3	RSPO2	LONP1	KAT6B	RAD21	PLAA	COL13A1	BDNF	GALNS	LEMD3	ELN	RAB3GAP1	VPS13B	TENT5A	TBX1	C2CD3	VARS1	DNMT3B	KRAS	LIG4	NODAL	MYPN	ATAD3A	COG8	KMT2E	RBBP8	ERCC5	UBE3B	TBXT	SLC26A2	PEX26	FKBP6	PAM16	PIGB	BRD4	COL9A2	RAB18	PIGL	HPDL	PEX5	HELLS	CSGALNACT1	STAC3	RAI1	PIK3CA	KCNK9	TGDS	EMG1	ZBTB18	BUD23	FANCE	SATB2	DNAJC30	DNA2	GRIP1	BRAT1	PUS1	GLI3	CHRND	TCF7L2	PHIP	PUS7	SPATA5L1	LGI4	HDAC8	CLCF1	FLI1	PEX14	SELENON	FLVCR2	TSEN54	SYNCRIP	CLTCL1	SOX9	VPS37D	POC1A	LOXL3	DEAF1	CRLF1	EP300	TAPT1	PTCH1	FDFT1	AGO2	IGF1R	RPS19	FGFR1	GBA	PTDSS1	EMC1	HACD1	TMEM107	NOG	OSGEP	GNAI3	EIF2AK3	TMEM67	ARX	LRRC32	MKS1	TUBB	TRIP13	ACTA1	IQSEC2	HYMAI	ADGRG1	DVL3	SPTBN1	SETD5	ATP6AP2	COL11A1	MAPRE2	YARS1	TAF1	KNL1	VANGL1	PIGQ	ALG14	ORC6	MSX2	XRCC2	PLXND1	FZD2	NDUFB11	KAT8	IFT172	NUP88	SETD1A	WDR35	AFF4	ATP6V1B2	BRCA1	PORCN	TNNT3	MYOD1	SERPINH1	TWIST2	KCNJ2	COL1A1	PTPN11	CANT1	ORC1	APC	PIGG	RINT1	TTN	ORC4	KDM4B	FLNB	PURA	COMP	RIPK4	SNRPN	CPE	ZBTB24	EBP	RAF1	CTBP1	CNTNAP1	C12orf57	CEP152	TCTN2	OSTM1	SPRED1	NSMCE2	GLB1	ACTG1	TFAP2A	PSMD12	KBTBD13	ANTXR1	PRKAR1A	ZMIZ1	FGD1	ALG12	PEX7	RPS28	PRKCZ	CENPE	DCHS1	CENPF	AMER1	TPM2	CTDP1	CDK5	SIX1	CCDC32	TMEM237	RPL35	FGFR2	HES7	MAFB	LZTR1	FKRP	FANCB	RPL5	SCUBE3	NECTIN1	TNRC6B	ACTG2	ALPL	UFD1	SEC24D	DPAGT1	GHR	CDKN1C	ARID2	BPNT2	PIGT	SYT2	GPX4	DIS3L2	COL3A1	HIRA	CRIPT	CEP290	PALB2	PLK4	KCNAB2	SHOX	PPP1R15B	INPPL1	CHAT	IHH	SF3B4	COG1	COL6A3	NUP107	EDNRA	WASHC5	MNX1	FANCG	FGF10	OCRL	FBN1	DSE	SOS1	ACTL6A	FN1	RPGRIP1L	MSTO1	CUL7	CPLANE1	SETBP1	PDPN	DYRK1A	ERCC6	GSC	NSUN2	MYL2	PDGFRB	MCM5	NRAS	SOS2	MUSK	SEC24C	ALX4	CDCA7	MAPK1	NEB	TPM3	CHRNA1	SNRPB	TRIM37	TRPV6	CDC45	COL9A3	LTBP4	TMEM231	HS2ST1	IGF1	ANKRD17	B9D2	AFF3	PEX1	SRCAP	GAD1	SLC35D1	SIX2	PAX6	TMEM216	EFTUD2	KDM6A	PEX11B	SATB1	NUP85	KIAA0586	VAMP1	TAB2	BPTF	TBX6	B3GALT6	FOXF1	NEK9	PTH1R	DYM	PQBP1	KMT2A	GPC6	OCLN	SPEG	PGAP3	SLX4	TSR2	DNAJC21	COL12A1	HBA2	KIF7	TRPV4	BAZ1B	RFT1	TCTN3	SMO	PI4KA	NOTCH2	MIR140	KPTN	RRAS2	ERMARD	TXNDC15	IDUA	ARID1B	SIN3A	ROR2	CCDC22	TRAPPC2	SVBP	PCGF2	YARS2	PDE6D	ERBB3	COL9A1	UBE2T	NBN	STRA6	PEX2	CHST14	TBX4	GEMIN4	ZNF292	ASXL3	ALG9	MBD5	INTS1	WASF1	RELN	SEC31A	PPP3CA	RPL31	TRAIP	CTNND2	MAP3K7	MED12	NSD1	RFWD3	ANKLE2	PLCB4	RPS29	EPG5	B3GLCT	WDR73	NEK1	TOE1	RREB1	CLIP2	CBL	EXTL3	SH3PXD2B	GTF2IRD1	RBM8A	DVL1	CEP55	COG7	CWC27	COMT	CDC6	FLCN	TRMT1	GATA1	RAD51	BRAF	SFRP4	DPM1	KCNJ6	GTF2I	ACTB	EZH2	NCF1	ARSL	DOCK3	YY1	DOCK6	TOR1A	AHDC1	NELFA	POLR1C	RPL18	DZIP1L	TRIO	HCCS	GPC4	INTU	MPLKIP	MMP2	SLC25A1	ALG1	LETM1	EYA1	GLE1	TPRKB	DDR2	DNAI1	GTF2E2	ACTL6B	CHD7	EDN1	SLC29A3	MADD	MYO18B	FANCL	DPYSL5	PTCH2	PLAG1	MID1	PHGDH	CHD4	SLC25A24	TBCK	ITGA7	NEDD4L	CA2	EED	RHOBTB2	RECQL4	EFNB1	LMOD3	MAPK8IP3	MRAS	HNRNPU	ZNF335	BUB1B	KCNMA1	SLC10A7	MTX2	BCL7B	MYH3	COL5A1	CCL2	CHUK	KCNN3	RPS10	WDR26	TASP1	TOPORS	GPKOW	POLD1	IFT140	POR	ATRX	AUTS2	PRDM16	MAP3K20	VPS53	NXN	HOXB1	NSD2	BRF1	COL6A2	STAG2	FAT4	ARL6IP6	FANCI	HBA1	PIGF	VPS33B	ASXL1	FBXL3	TRRAP	SLC12A2	RFC2	POMT1	PIEZO1	SLC35A3	UBR7	SIM1	MYH8	BICRA	SPRED2	KIAA0753	DOK7	MYMK	SLC5A7	IRX5	GRIA4	HMGA2	BMP4	ADGRG6	ATR	PGAP2	PIK3R1	PLAGL1	BLM	REV3L	RAD51C	TCTN1	BMPER	DSTYK	TCOF1	NFASC	ABCC9	EVC	BMPR1A	TNFRSF11A	KCNH1	FLII	RPS24	HNRNPH2	CDT1	LAGE3	POMGNT1	WNT5A	CFL2	ADA2	LMX1B	ADAMTS2	DHCR24	BUB1	RNF2	TRPS1	FUZ	PEPD	NTNG1	POLR1B	RDH11	ARSB	ANKRD11	COX7B	CC2D2A	CNOT3	BRCA2	HOXD13	TTC21B	GP1BB	ACVR1	NDE1	AMMECR1	GATAD2B	NOTCH3	MLXIPL	SUFU	GDF11	SRY	DONSON	VPS35L	ABCD4	AKT1	MCTP2	SRPX2	TBC1D24	EIF4A3	ZNF341	MED13	XYLT1	LIMK1	CNOT2	KCNK4	IGF2	PSMB8	RPS17	RPS7	VAC14	PUF60	BGN	HSD17B4	SPOP	SIX6	UBE4B	EXOC6B	ARCN1	ARVCF	KIF14	SUZ12	SNAP25	PAX7	HUWE1	COL6A1	RPS27	ZNF699	TANC2	TBX3	BCL11B	DDX6	POLR1A	BCAS3	TBX15	GNPAT	RPS20	PGM1	PALS1	BMP2	LFNG	PIGV	TBC1D20	VANGL2	PEX19	TUBB3	SP7	MYBPC1	MMP23B	POLR3A	HAAO	WT1	GUSB	TXNL4A	EXT1	AGA	GTF2H5	GNB2	RPGRIP1	SLC37A4	LAS1L	UPF3B	BUB3	POMT2	TBL2	C1S	ZIC3	WNT3	CHN1	ASNS	RASA2	FANCM	ALX1	FGFRL1	ANK1	SPECC1L	DPYD	NFIX	STAG1	DPH1	POLE	TMEM270	BRIP1	DYNC2LI1	NCAPG2	AIFM1	PEX10	PAX1	PEX13	SOX6	DYNC2I2	HTT	ATRIP	SSR4	B3GAT3	TP53RK	NUP133	KDM5C	STX1A	RAB33B	PLCB3	P4HB	RAB23	RNF113A	DNMT3A	RPL11	SLC18A3	CASZ1	ADAMTSL2	EVC2	LMBRD2	RPL26	TMEM70	GATA4	PCNT	MINPP1	JMJD1C	IFT122	GTF2IRD2	NF1	UBA1	SH2B1	PIGO	MAP2K1	KCNJ5	LUZP1	BANF1	TRMT10A	GJA1	IPO8	ZC4H2	CSNK2A1	PIGA	GABRD	TBX5	PIGY	IFT80	LEMD2	MYH7	EIF5A	TRAPPC4	SMCHD1	C1R	JARID2	LARGE1
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	KRT5	PCNT	LMNA	SMS	UBE2A	KRT14	SASH1	PSENEN	ADAR	POGLUT1	POFUT1	PIGN
HP_ABNORMAL_ADIPOSE_TISSUE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ADIPOSE_TISSUE_MORPHOLOGY	PLN	FASLG	TGFB3	LCK	MT-TK	GNA11	RPL10	TNNC1	FGFR1	CDKN2B	LDB3	AKT1	ALG8	COL1A2	BAG3	KCNJ6	NEXN	LMNA	PRKCD	FUZ	HAVCR2	SPRTN	PDE8B	DDOST	SPRED1	TMPO	CDKN1A	TGFB1	PSMB8	APC	ZMPSTE24	ERCC3	DSG2	MPLKIP	CHCHD10	INSR	ALG12	MSTO1	FH	TOP3A	TXNRD2	VANGL1	CRYAB	MT-ND5	PSMG2	PTEN	TNNI3	PRDM16	POMC	CASP10	USP8	WRN	FHL2	GTF2E2	ALB	SYNE2	PPARG	EMD	ALX3	RNASEH2C	DPAGT1	ERCC2	PPCS	IFIH1	ZSWIM6	PHGDH	CAVIN1	SLC25A24	TPM1	SDHD	RNASEH2B	ABCC6	TBL1XR1	INPP5K	CAV1	FKTN	TREM2	TAFAZZIN	CDH23	ERCC8	PPP1R15B	BSCL2	SDHC	ATP6V1A	AGPAT2	ALG3	ATP6V1E1	SKI	FHL1	VANGL2	CCL2	FBN1	ACTC1	MEFV	LMNB2	ALMS1	MYH7	POLR3A	PSMB4	PMM2	SCN5A	ACTN2	PRKACA	POLD1	GTF2H5	ARMC5	PIK3CA	TARS1	FLNA	PCSK1	TBXT	GNB2	PRKAR1A	PDGFRB	CIDEC	GNAS	USF3	ANKRD1	SAMHD1	COL3A1	KCNK9	SEC23B	DMD	CDC73	MT-RNR1	MEN1	LIPE	ALX1	COL1A1	TMEM43	MT-TH	LMF1	ADAR	VPS4A	CAP2	ENPP1	AP2S1	VDR	DES	RASGRP1	GRM7	ATP6V0A2	PSEN2	DOLK	MYBPC3	PLIN1	ACTB	MT-TF	SLC2A2	PSMB9	MC4R	RBM20	OTULIN	RAF1	TTN	CDKN1B	MFN2	TNNT2	PIK3R1	TAF1	PSEN1	MYPN	RNF113A	TYROBP	ERCC6	BLM	ADAMTSL2	KLLN	RBM28	ABCC9	CSRP3	MT-TL1	BMPR1A	MT-TP	PDE11A	KRAS	FAS	FOS	MTX2	FLCN	SDHA	ERCC4	SGCD	TRMT10A	VCL	MT-TS2	SOX18	IGF1R	BANF1	HAND2	ADAMTS2	CLMP	MYH6	PTF1A	KIF11	B4GALT7	SLC29A3	SYNE1	ALG11	NAA10	MYSM1	LEMD3	LEMD2	FUCA1	SDHB	ALG9	MT-TQ	DSP	CDKN2C	TCAP	RNASEH2A	ADA2	GATAD1	TREX1	LAMA4	PORCN	TAF1A	AKT2
HP_LIPODYSTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIPODYSTROPHY	PLN	DMD	LIPE	TNNC1	TMEM43	FGFR1	LMNA	KCNJ6	LMF1	LDB3	ADAR	BAG3	NEXN	VPS4A	CAP2	CAVIN1	SPRTN	DES	DDOST	GRM7	ATP6V0A2	PSEN2	TMPO	PSMB8	ZMPSTE24	CAV1	DSG2	DOLK	MYBPC3	PLIN1	FBN1	ACTB	PSMB9	SLC25A24	ALB	RBM20	OTULIN	TXNRD2	CRYAB	PIK3CA	PSMG2	RAF1	TNNI3	TTN	TNNT2	PIK3R1	PSEN1	PRDM16	MYPN	WRN	FHL2	SYNE2	PPARG	EMD	PMM2	RNASEH2C	ABCC9	DPAGT1	PPCS	IFIH1	CSRP3	TPM1	KRAS	RNASEH2B	FOS	MTX2	FKTN	TAFAZZIN	SDHA	BSCL2	SGCD	ATP6V1A	AGPAT2	VCL	ALG3	ATP6V1E1	IGF1R	FHL1	BANF1	HAND2	CLMP	ACTC1	MYH6	MYH7	POLR3A	PSMB4	B4GALT7	SLC29A3	SYNE1	SCN5A	ACTN2	POLD1	FLNA	PDGFRB	CIDEC	FUCA1	ALG9	RBM28	DSP	TCAP	LMNB2	RNASEH2A	GATAD1	TREX1	LAMA4	TAF1A	AKT2	ANKRD1	SAMHD1	COL3A1
HP_INCREASED_ADIPOSE_TISSUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_ADIPOSE_TISSUE	LMNA	LIPE	CHCHD10	AKT2	MC4R	INPP5K	POMC	MT-TK	POLR3A	PCSK1
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	SACS	COA7	TGFB3	TRAPPC11	MYO9A	AGRN	BIN1	OPA1	PYROXD1	MT-TE	DAG1	GATA1	GIPC1	CHCHD10	ABCD1	SALL4	GARS1	HK1	KANSL1	FBXO38	DNM1L	INF2	SDHA	PMP22	KIDINS220	RYR1	LMNA	DYSF	FXN	KLHL41	CHRNE	ALG2	EYA1	SCN3A	HINT1	NF1	KDM1A	FBN2	WDR48	JAG1	NTRK2	CCNF	RPL18	PAX3	IGHMBP2	SZT2	BAP1	NCAPD3	MTHFR	SBF1	SLC25A1	RNASEH1	GRIK2	MYH7	MAP3K20	TWNK	SMARCE1	PDK3	MYF6	FGF10	MT-ATP6	REEP1	ATP13A2	SLC39A13	LAMA2	PHKB	ALS2	NEFL	SPG7	C19orf12	OBSL1	COLQ	TRAF7	SYNE2	LRSAM1	RASA1	COL6A2	NIPA1	POLG	KY	MYH14	AP5Z1	SMN1	YWHAG	AAAS	LARGE1	COL6A3	SBF2	RNU7-1	SYNJ1	MFN2	ARV1	SPTLC2	TPM3	ITGA7	KATNB1	PTPN11	TIA1	SH3TC2	CAV1	TTN	PHYH	RHOBTB2	FLNC	PLEC	LMOD3	GFPT1	SGCG	ATP1A2	RTN2	DARS2	CACNA1A	GALC	CAV3	KCNB1	KCNJ18	RPL27	AFG3L2	FKRP	CRYAB	SYT2	SLC25A19	LYST	FGFR2	RPL35A	RPS10	NDRG1	SLC6A3	RPS26	CPLANE1	SPG21	EBP	MTRFR	SLC25A4	UBA5	CHRNB1	ATRX	POLG2	RPS15A	POMGNT2	DES	TSEN54	FLI1	RAB7A	CHRNA1	PIGN	GYG1	GNE	POU3F4	RAPSN	TERT	GNB1	HSPB1	POMT1	PDGFB	GABRB2	ACTA1	BRF1	MTPAP	ZFYVE26	TRIP4	FHL1	GRIN2D	FGD4	VAMP1	HSPB8	PIGP	ALG14	PIK3CA	TPM2	DYNC1H1	ERGIC1	COL12A1	PLOD1	RPL15	GBF1	ALDH18A1	ASXL1	DNM2	CADM3	PLAA	ERLIN2	PRX	POMGNT1	IBA57	SPEG	ADCY5	YARS1	SLC1A2	EEF1A2	ERCC8	KCNA2	FKTN	LBR	PNKP	AARS1	MORC2	MYPN	SLC52A2	MARS1	DCTN1	DDHD1	PNPLA2	SGCA	PRR12	VCP	MYMK	SLC5A7	CPT1C	PCCB	CLDN11	KIF1A	TARS2	SPATA5	ACTL6B	CRPPA	CSGALNACT1	HARS1	TCAP	HSPD1	POMK	RRM2B	MICU1	ABHD5	DNAJB6	DMXL2	COL13A1	FLNA	ANO10	COL6A1	PI4KA	TK2	GCH1	REV3L	DPAGT1	DMD	BICD2	CLCN1	PODXL	TNPO3	DSTYK	SPTLC1	DPM3	LGI4	VPS13A	CYFIP2	RPS24	EPHB4	PLOD3	CAPN1	LIPE	PCCA	SLC13A5	CFL2	DNA2	VWA1	DNM1	MPZ	ADA2	GABRA5	RARS1	LMX1B	RPS19	SLC25A21	SPG11	STIM1	EMC1	HACD1	ANO5	SIGMAR1	CCDC8	SPAST	TNR	SECISBP2	EGR2	BSCL2	GJB1	FRMD4A	SYNE1	DGUOK	CNKSR2	PARS2	MTTP	TRPV4	ADGRG1	NECAP1	CLTC	SDHAF1	ATL1	PLXND1	SEPTIN9	SDHD	MATR3	SVBP	CIDEC	AP3B2	SARDH	PYCR2	KCNJ2	PPOX	DNMT3B	ERCC6	GDAP1	GABRA3	ACTN2	GDF11	SRY	RAI1	ATP1A1	CAPN3	DNAJC6	PIEZO2	FA2H	FRG1	WASHC5	USP8	FLNB	BRAF	SRPX2	SQSTM1	SGCB	DOK7	TSEN2	PRPS1	TRIM32	CYP7B1	FBXW11	ORAI1	LIMS2	MME	HADHA	PSAP	CACNA1S	LRP12	RPS17	RPS7	KBTBD13	LIG3	NUP62	FGF13	SCN4A	RPS28	KLHL9	HADHB	SLC16A2	TBX3	LDB3	WARS2	NUS1	NF2	GABRA2	RPL35	AMPD3	POPDC3	SCN8A	KPNA3	KIF5A	RPL5	SNAP25	SMO	MTMR14	GMPPB	TBCE	KAT6A	EMD	AR	ALX3	MT-CO3	ATP1A3	SLC12A6	CDK19	FAR1	MINPP1	NDUFA9	RPS27	UBTF	GBA2	AKT1	CHRND	ERCC1	SLC33A1	PRNP	LRIF1	DKK1	VHL	LAMB2	SORD	VMA21	CHAT	TSEN34	ADSS1	RPS20	ALAD	TSEN15	MUSK	HCN1	PAX1	SEPSECS	HNRNPA1	SMARCB1	DDC	DHPS	NOTCH2NLC	MYOT	GAN	MYBPC1	VPS37A	CUL7	TDP1	KARS1	SUFU	DDHD2	FGFR3	SLC30A9	MYL2	CACNA1B	GNB2	RAF1	BVES	MAPT	PNPT1	TYMP	NEB	NEFH	ASAH1	DYM	FBN1	WWOX	CPOX	ALX1	AMPD1	SYNGAP1	TMEM43	MTRR	HMBS	PLP1	PABPN1	ZFYVE27	CELF2	CEP126	KCNA1	SDHB	GRM7	ATL3	LRP4	DNAJB2	UBAP1	PPP3CA	COG4	KDM5C	ACTB	PNPLA6	DNAJC12	POMT2	ATP6V1A	SMCHD1	TRAK1	ADAR	L1CAM	GABRG2	RPL11	SLC18A3	PEX7	CD59	FAM126A	RPL26	ACOX1	POGLUT1	ATP6V0A2	NGLY1	SELENON	LTBP4	PPARG	TFG	BTD	GMPPA	MYH2	ATP7B	SCYL1	GFM2	SPART	FGF12	TRPS1	HOXA13	SCO2	LPIN1	KIF1B	COX20	KCNJ10	SGCD	MT-CO1	SLC35C1	HSPB3	POLR3A	RPL31	COX6A1	ALG11	FUZ	JAG2	MAP3K7	MCM3AP	RPS29	TBX5	SPR	DHDDS	AK9	TSR2	NDUFC2	EXTL3	MPV17	COMP	ARSI	SLC52A3	MTAP	PLIN1	HNRNPDL	UNC45B	RBM8A	DHX16	DALRD3
HP_UPPER_LIMB_AMYOTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_LIMB_AMYOTROPHY	GDAP1	BSCL2	DYSF	HK1	TIA1	NEB	LMNA	CADM3	FLNC	GIPC1	PLOD3	GARS1	KANSL1	PMP22	ADSS1	INF2	MATR3	SQSTM1	FXN	ACTA1	CAV3	CYP7B1	SLC25A21	SPG11	CEP126	VCP	JAG1	TNR	NOTCH2NLC	KIF5A	RYR1	NDRG1	SLC39A13	DCTN1	CPLANE1	FUZ	MORC2	TRPV4	CHCHD10	GJB1	ANO5	KLHL9	LDB3	HSPB1	MYH7	HARS1	ALS2	NEFL	COMP	KAT6A	NEFH	SLC52A3	KY	PDK3	HINT1	SVBP	REEP1	NGLY1	MPZ
HP_HAND_MUSCLE_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAND_MUSCLE_ATROPHY	GDAP1	BSCL2	TIA1	NEB	LMNA	FLNC	PLOD3	GARS1	KANSL1	PMP22	SQSTM1	DYSF	FXN	ACTA1	CAV3	SLC25A21	SPG11	VCP	JAG1	RYR1	SLC39A13	DCTN1	FUZ	TRPV4	CHCHD10	KLHL9	LDB3	HARS1	ALS2	NEFL	COMP	SLC52A3	PDK3	HINT1	SVBP	REEP1	NGLY1	MPZ
HP_OSTEOLYSIS_INVOLVING_BONES_OF_THE_FEET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOLYSIS_INVOLVING_BONES_OF_THE_FEET	LMNA	MMP2	KIF1A	NOTCH2	WNK1	ZMPSTE24	SCN9A	RETREG1	COL3A1	MMP14	ASAH1	MAFB	MTX2
HP_DUPLICATION_INVOLVING_BONES_OF_THE_FEET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUPLICATION_INVOLVING_BONES_OF_THE_FEET	B9D2	OFD1	COMT	TMEM237	PRKACB	HSPG2	DHCR7	KIAA0825	CPLX1	FGFRL1	LZTFL1	CEP120	SPEN	PLAA	MKS1	RERE	CCDC28B	ROR2	TMEM216	DYNC2I1	IFT172	GLI3	TTC21B	INPP5E	PIK3CA	SHH	SMOC1	ZNF423	TBX1	CTBP1	CEP41	C2CD3	TCTN2	TMEM67	IFT140	FAM149B1	ZSWIM6	TMEM231	KATNIP	AHI1	CBY1	MEGF8	BBS2	KIAA0753	PRKCZ	CEP104	PIBF1	DDX59	IFT74	CPLANE1	B9D1	CSPP1	FGFR2	LMBR1	KIF7	DYNC2H1	OTUD5	UBE4B	RAB23	TCTN1	TCTN3	EVC2	HOXD13	ARVCF	CASZ1	GLI1	UFD1	CC2D2A	LBR	TXNDC15	BBS1	NEK1	SC5D	CIBAR1	JMJD1C	EVC	DYNC2LI1	RPGRIP1L	TFAP2B	PDE6D	HIRA	HYLS1	CEP290	ARMC9	KCNAB2	ABCA12	ARL6	DVL1	LETM1	SUFU	MKKS	PPP2R3C	LUZP1	TMEM107	ARL3	DYNC2I2	MMP23B	ARL13B	PITX1	CD96	TMEM138	TOPORS	SMO	PDPN	SETD5	IFT80	PRDM16	GABRD	SKI	BBS9	RPGRIP1	PORCN	KIAA0586	WDR19	SEC24C	RREB1	NSD2	EXTL3	GP1BB	WNT5A	BMP4	NPHP3
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	FLNA	FGF9	BHLHA9	OFD1	BMPR1B	FGFR3	TPM2	MYH3	POR	GDF5	GDF6	SLC26A2	TNNI2	HOXD13	NOG	NALCN	FLNB	MKKS	SALL1	TBX4	CHSY1	MAP3K7	LMBR1	FBLN1	FGFR1	FGFR2	TNNT3	ATP7A	SMOC1	GLI3
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	SLC25A4	TK2	SUCLG1	RRM2B	SLC25A10	TYMP	POLG2
HP_SUPERNUMERARY_BONES_OF_THE_AXIAL_SKELETON	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPERNUMERARY_BONES_OF_THE_AXIAL_SKELETON	IKBKG	PUF60	GPC4	MAF	AFF3	ACTB	SUFU	RUNX2	GDF11	MTX2	SOX2	SON	SIX6	GATA6	ANK1	GPC3	RBM8A	PTCH1	SKI	DHODH	ANKRD11	TBX6	IFT57	PAX3	PTCH2	NIPBL
HP_ABNORMAL_CEREBRAL_ARTERY_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CEREBRAL_ARTERY_MORPHOLOGY	ABCG8	GANAB	NDE1	BICC1	TGFBR1	RNASEH2B	LOX	SMAD3	COL4A1	RNF213	PLOD3	APP	MAT2A	SMAD4	HTRA1	ADAR	LDLR	ELN	TGFBR3	GGCX	PDGFB	SMAD2	PRKAR1A	COL5A1	SMARCAL1	MYH11	ENG	SPTBN1	FARSB	PKD1	TGFB2	FOXE3	GAA	DNAJB11	ANGPTL6	APOB	PRKG1	IPO8	NF1	LDLRAP1	PKD2	COL1A1	MYLK	ACTA2	COL3A1	STAT1	TONSL	PCSK9	PDGFRB	TGFB3	ALG9	GUCY1A1	THSD1	BRCC3	HEY2	SLC20A2	PCNT	TGFBR2	RNASEH2A	TREX1	COL5A2	RNASEH2C	FBN1	BGN	IFIH1	ABCG5	MFAP5	SAMHD1
HP_ABNORMAL_CALCIFICATION_OF_THE_CARPAL_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CALCIFICATION_OF_THE_CARPAL_BONES	ABCC6	EBP	ENPP1	LEMD3	SLC34A2	DDR2
HP_JOINT_CONTRACTURE_OF_THE_5TH_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_CONTRACTURE_OF_THE_5TH_FINGER	HOXD13	PIGL	SLC29A3	GJA1	CTCF	LIFR	FBXW11	PITX1	TMEM218	ZDHHC9	PYROXD1	AUTS2
HP_PSEUDOEPIPHYSES_OF_THE_METACARPALS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSEUDOEPIPHYSES_OF_THE_METACARPALS	SALL1	PCNT	NPR3	CTBP1	NSD2	CPLX1	FGFRL1	LETM1	RPS6KA3
HP_DEVIATION_OF_THE_4TH_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVIATION_OF_THE_4TH_FINGER	IHH	PIK3CD	ABCC8	KCNJ11	SNRPN	KNSTRN
HP_ABNORMAL_3RD_FINGER_PHALANX_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_3RD_FINGER_PHALANX_MORPHOLOGY	GDF5	TWIST1	GNAS	CHSY1	COL2A1	FGFR2
HP_DEVIATION_OF_THE_3RD_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVIATION_OF_THE_3RD_FINGER	DLK1	PKDCC	RTL1	PTRH2	IHH	PIK3CD	FGFR2	MEG3	FGF10	GDF5	KNSTRN	FGFR3
HP_APLASIA_OF_THE_FINGERS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_FINGERS	RSPO2	RFWD3	RPL15	ERCC4	FANCC	RPS24	GATA1	RIPK4	SALL4	RPS20	SF3B4	FGFR2	FANCF	ADA2	FIG4	SMOC1	RPS19	RPL27	RECQL4	FGF10	FANCB	WNT7A	MEGF8	LMBR1	RPL35A	RPS10	PSMD12	RPL18	RPS17	RPS7	TRIO	RPS26	VAC14	NIPBL	BHLHA9	RPL31	SLX4	BMPR1B	RPS28	FGFR3	FANCD2	RPS15A	TBX5	DLX5	FANCL	FANCI	RPL35	RPS29	RAD51C	TSR2	RPL11	SON	LMNA	PORCN	CHD7	RPL5	CUL3	ESCO2	RPL26	EN1	RPS27	SHH	NEK1	FANCE	FANCA	GJA1	WNT10B	SEMA3E
HP_ULNAR_DEVIATION_OF_THE_2ND_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ULNAR_DEVIATION_OF_THE_2ND_FINGER	PTRH2	HOXA13	GDF5	BMPR1B	TGDS	BMP2
HP_ULNAR_DEVIATION_OF_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ULNAR_DEVIATION_OF_FINGER	GDF5	BCR	LIFR	TPM2	MYMK	DHCR7	SLC26A2	TNNI2	MYH3	HOXD13	DACT1	TNNT3	NALCN	MAPK1	SHOX	EXOC6B	RAB3GAP1	BMPR1B	HOXA13	HRAS	B3GALT6	TGDS	PAX3	RAB3GAP2	CRKL	FBN2	PTRH2	MYBPC1	SALL1	BMP2	WNT7A	CD96	TBX22
HP_RADIAL_DEVIATION_OF_THE_2ND_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RADIAL_DEVIATION_OF_THE_2ND_FINGER	CANT1	IHH	GDF5	BMPR1B	FLNA	BMP2	TGDS
HP_DEVIATION_OF_THE_2ND_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVIATION_OF_THE_2ND_FINGER	CANT1	IHH	HOXA13	GDF5	PIK3CD	BMPR1B	TGDS	CHSY1	FLNA	MED25	KNSTRN	MED12	PTRH2	OPA3	BMP2	CSGALNACT1
HP_JOINT_CONTRACTURE_OF_THE_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_CONTRACTURE_OF_THE_HAND	ORC1	TGFB3	IRF5	ITGB4	KRT14	PYROXD1	TP63	ORC4	CDC6	RTTN	KRT9	TWIST2	CAPN3	XYLT1	SMARCAD1	PITX1	NOG	IL6ST	SMOC1	MYH3	FLVCR1	EZH2	CTCF	PAX3	FBXW11	ROR2	GTF2H5	PIEZO2	LARGE1	FBN2	GDF5	LAGE3	COL11A2	PSMB8	AMER1	KAT6B	KRT1	ERCC2	COL2A1	MMP2	LIFR	SHH	PRKCZ	TBX3	CANT1	RAPSN	MYLPF	IGHMBP2	ZMPSTE24	CTDP1	WDR4	TPRKB	CHRNG	IDUA	UBE4B	HSPG2	MESP2	UROS	HOXD13	NEFL	SLC29A3	TNNI2	TGFBR2	TPM3	GJA1	SUZ12	ACTG2	COL6A2	ALX3	CRKL	PTRH2	CCBE1	SMAD3	COL6A3	NSD1	NUP107	FGFR3	PHGDH	TMEM70	KDM5C	ITGA7	SMC1A	OSGEP	DHODH	FZD2	EED	LAMC2	ERCC1	LMNA	GLI3	KCNAB2	EFNB1	POR	SETD2	FHL1	NALCN	WDR73	CRLF1	FBN1	SMG9	SKI	LMBR1	C19orf12	LFNG	ERCC6	PLEKHG5	CAV1	RAB3GAP1	CNTN1	MMP23B	GDAP1	SLC39A13	MED12	FLNA	GPKOW	PDPN	ZNF407	ANO5	MED25	ZDHHC9	CCN6	AUTS2	PRDM16	MYL2	NAA10	MAP3K20	MAPK1	NXN	COL12A1	UPF3B	MUSK	ACTA1	BCOR	COL11A1	DVL1	CCN2	CDC45	DYRK1A	SVIL	PRG4	RTL1	GPC3	APC2	IDS	TBC1D2B	FGD1	ALG3	ADAT3	ALX1	SPEN	RERE	NLRP3	DDR2	TPM2	FERMT1	GMNN	MEGF10	FAT4	SLC35A3	LAMB3	KIF5A	ADAMTS3	CHST3	TP53RK	RIPPLY2	COL17A1	MORC2	NUP133	DOK7	RPL10	BMP4	SCARF2	DVL3	SLC26A2	PEX5	TNNT3	TRPV4	MEG3	RAB23	KCNK9	TGDS	EMG1	CASZ1	TCTN3	COL6A1	ERCC5	KRT16	SLC18A3	CDH3	CUL4B	HINT1	MYBPC1	MBTPS2	DHCR24	ARID1B	NOD2	DLL3	MAFB	SELENON	CLCF1	BCR	PIGL	CCR6	ECE1	FKTN	WNT5A	DLK1	LUZP1	KIAA0319L	NUP88	PMP22	L1CAM	HACD1	HES7	IKBKG	TBX15	COG5	TGFBR1	ASXL3	SLC35A2	TRPS1	TBR1	GPC4	POLR3A	PEX6	ANTXR2	LMX1B	MAP3K7	GABRD	TUBB3	HLA-DRB1	PEX1	UBA1	SH3PXD2B	CDT1	TMEM218	LAMA3	PQBP1	PORCN	MYOD1	ORC6	ADAMTSL2	OCRL	POLR3GL
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	RERE	SMAD4	OFD1	PRKACB	CITED2	CDC6	BRAT1	CCDC28B	NDN	SRCAP	RAD51	RB1	XYLT1	BRAF	MGAT2	RRAS	RBM8A	CKAP2L	CDC42	NKX2-5	RIT1	EVC	GTF2I	FANCC	BCOR	NKX2-6	NCF1	PAX3	CHSY1	ROR2	MAPK8IP3	KDM1A	FBN2	PHF21A	EIF4H	HDAC4	FAM149B1	GATA6	RUNX2	TRIO	AMER1	FANCF	SATB2	CTU2	ERCC4	FANCD2	LIFR	IGF2	ODC1	CANT1	MAN1B1	GATA4	MYLPF	TWIST1	FANCB	ZIC3	SALL4	RRAS2	MYCN	RSPRY1	FGF10	RPL10	HOXD13	BMPR1B	BICD2	ESCO2	ATG7	CRKL	PAFAH1B1	FANCL	CILK1	NEK1	SLC26A2	HOXA11	SMC3	TBX4	TNNI2	PLAG1	PHGDH	PACS2	BHLHA9	DSP	EFNB1	WIPI2	NUP37	MRAS	BUB1B	WDR4	MAD2L2	NALCN	SHANK3	ZEB2	FANCA	PPP2R1A	BCL7B	CLCN3	LMBR1	MYOD1	SMC1A	BRCA1	KNSTRN	FGFR2	TCF20	ABL1	MKRN3	SMOC1	TFAP2B	COL9A3	NIPBL	CD96	EBP	TOPORS	BPTF	MED25	TMEM94	ATRX	FLNA	TELO2	PRDM16	CHD7	WDR35	PITX1	ALX3	ARID1B	OBSL1	NXN	RAB3GAP1	METTL27	NPR2	LMNB2	NPAP1	DHCR7	CREBBP	PTRH2	RAB3GAP2	PIGN	FLT4	CEP57	DVL1	SNRPB	AKT1	MAP1B	FANCI	ATP6V1B2	PKDCC	GPC3	CENPJ	GPC4	FGD1	CCNQ	TPM2	GDF5	LONP1	RAD21	LEMD3	HPGD	TRRAP	ELN	SNRPN	GMNN	COL9A1	RFC2	KRAS	LIG4	PNPLA6	QRICH1	COG8	RBBP8	UBE3B	PRR12	FKBP6	SPRED2	KIAA0753	BRD4	MYMK	HMGA2	BMP4	RAB18	ADGRG6	MACROH2A1	ATR	PIK3R1	TNNT3	OTUD5	CSGALNACT1	ZFPM2	RAI1	TGDS	VPS13B	EPB41L1	EMG1	POLA1	GATA5	MAGEL2	BUD23	REV3L	RAD51C	MYH3	FANCE	DNAJC30	SLC2A10	PCNT	RNU4ATAC	KIF7	DLX3	SIAH1	COL11A1	GDF1	MADD	FLII	PIGL	SPOP	VPS37D	DEAF1	WNT5A	CRLF1	LMX1B	PIK3CD	IGF1R	L1CAM	PEX1	TCF4	NOG	COG5	CCDC8	TBX1	SMARCA2	BUB1	TRPS1	SALL1	SNORD115-1	PTF1A	ZNF462	PIEZO2	TRIP13	EP300	ANKRD11	B3GLCT	DLK1	YWHAE	H19	BRCA2	XRCC2	PLXND1	IHH	CPLANE1	RNF216	PRKDC	CDT1	ACVR1	KMT2A	AGO2	SNORD116-1	TRPV4	KCNJ11	PQBP1	AMMECR1	KCNJ2	PTPN11	MBD5	KDM6B	ORC1	MOGS	MLXIPL	HDAC8	ORC4	KDM4B	IFT122	XRCC4	DONSON	FLNB	MCTP2	TBC1D24	CTCF	RAF1	EIF4A3	AFF2	SPECC1L	C12orf57	CEP152	LIMK1	CNOT2	KCNK4	TFAP2A	TBX22	KAT6B	PUF60	BGN	ALG12	SHH	PRKCZ	CHRNA7	CCDC32	OPA3	UBE4B	MAFB	EXOC6B	SEMA3E	KDR	EVC2	NEXMIF	USP7	DPAGT1	BBS1	CDKN1C	CENPE	TP63	COL9A2	NONO	FZD2	PACS1	CRIPT	JAG1	PALB2	KCNAB2	ARL6	SAMD9	BMP2	FANCG	MECP2	TRAPPC9	PIGS	SOS1	DHPS	CNTN1	MMP23B	NIN	KPTN	MIA3	CUL7	SHOX	SETBP1	SOST	PDPN	MAP3K7	KLF13	FGFR3	NSUN2	SPRED1	GNB2	DACT1	NAA10	ABCC8	UBR1	MAPK1	STAG2	WDR19	NRAS	SOS2	MKS1	MUSK	B3GALT6	BUB3	TBL2	YY1AP1	SLC9A7	EXT2	PWAR1	AP1G1	COMP	CDC45	MASP1	WNT7A	IGF1	IFT43	RTL1	RASA2	MAF	FANCM	HSPG2	ALX1	SPEN	TMEM216	MECOM	NUP85	STAG1	TMEM270	BRIP1	NEK9	ZC4H2	DYM	SOX6	ATRIP	EFTUD2	CHST3	SLX4	CNOT3	STX1A	DVL3	KIAA1109	DOK7	BAZ1B	MEG3	RAB23	CASZ1	CHST11	PI4KA	RBM28	PLK4	LBR	CUL4B	HIC1	MYBPC1	SIN3A	LZTR1	BCR	GTF2IRD2	TCTN3	KAT8	CLCF1	PIGH	PDE6D	BLM	HERC2	UBE2T	MAP2K1	HOXA13	UBE3A	HRAS	MED12	LUZP1	IKBKG	LMNA	GJA1	IFT52	TBX15	PWRN1	ZNF292	ASXL3	ALG9	ATN1	PTEN	JUP	ZMYM2	EZH2	TRAIP	GJA5	SHMT2	SF3B4	RFWD3	GABRD	SKI	DPYSL5	TBX5	PTH1R	SH3PXD2B	PPP1R21	COG7	IQSEC2	CLIP2	CBL	GTF2IRD1	OGT	CEP55	ORC6	GLI3
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	CANT1	PHGDH	COL9A2	IFT122	GDF5	SMAD4	CLCF1	FGFR3	CCDC28B	ROR2	SLC26A2	NDN	FLNB	BRAF	HERC2	PITX1	ARL6	ESCO2	PTPN11	CRLF1	DVL1	SAMD9	MAP2K1	SNRPN	MED12	IGF1R	COL9A1	EIF4A3	ANKRD11	CHSY1	NOG	PWRN1	FGFR2	MKRN3	BMP2	SNORD115-1	COL9A3	OFD1	CD96	EZH2	BGN	FGD1	BMPR1B	FLNA	SF3B4	ATRX	NAA10	TRPV4	PIK3R1	SALL4	FGF10	TGDS	MKS1	ALG9	IHH	CPLANE1	NPAP1	MAGEL2	WNT5A	BCOR	SNORD116-1	ALX3	PWAR1	BBS1	GLI3	ZC4H2	SIN3A	IGF1
HP_RADIAL_DEVIATION_OF_THE_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RADIAL_DEVIATION_OF_THE_HAND	COL9A2	BGN	COL9A1	EIF4A3	SALL4	PITX1	GLI3	ZC4H2	SAMD9	COL9A3
HP_ULNAR_DEVIATION_OF_THE_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ULNAR_DEVIATION_OF_THE_HAND	COL9A2	MUSK	ALG9	RBM28	PAX3	COL9A1	MAP3K7	PEX1	ADGRG6	ASXL3	SLC26A2	LBR	ZEB2	CILK1	COMP	DPYSL5	COL9A3	MAFB	FLNA
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	BMP2	BMPR1B	FIG4	BHLHA9	GDF5	HOXD13	RUNX2	INTU	FGFR2	TWIST1	MYCN	COL2A1	KIF15
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	FIG4	BMPR1B	TWIST1	COL2A1	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	BMP2	BMPR1B	FIG4	BHLHA9	GDF5	HOXD13	RUNX2	INTU	MYCN
HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_2ND_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_PHALANGES_OF_THE_2ND_FINGER	BMP2	BMPR1B	FIG4	BHLHA9	GDF5	HOXD13	RUNX2	INTU	MYCN	COL2A1	KIF15
HP_ABNORMALITY_OF_THE_HAIRLINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_HAIRLINE	RERE	APC	PIGG	GDF11	SRY	HDAC8	ATP6V1B2	KDM4B	ARID2	GATA1	SRCAP	BRAF	RRAS	XRCC4	NOVA2	NRAS	DPM2	ABCC9	DOCK7	RIT1	TBC1D24	ACTB	RAF1	HSPG2	CTBP1	SPECC1L	SPRED1	DOCK6	CDH2	SOS1	PEX19	ACTG1	FGFR2	NELFA	TFAP2A	POLR1C	RPL18	RPS17	RPS7	TCF12	INTU	FGD1	MAB21L1	LRP2	INSR	ALG12	RPS28	LETM1	VPS51	ALDOA	TECPR2	UGP2	TWIST1	NF1	RPL35	DLX4	KCNH1	GDF6	SMARCA4	LZTR1	NSD2	PACS1	ARX	TSC1	RPL5	PPARG	NOTCH2	FRMD4A	SALL4	EDEM3	MYO18B	ALX3	SH2B1	HUWE1	VPS33A	SLC12A6	TAF6	FRAS1	RPS27	THOC6	NSD1	ZNF699	SMC3	ADNP	MEOX1	CHST3	MID1	CAVIN1	SLC25A24	LRPPRC	SMC1A	RALGAPA1	SOX4	TBL1XR1	SMARCB1	EFNB1	AEBP1	SETD2	PPP1R15B	SMARCC2	CPLX1	TBX15	MRAS	POLR1D	RPS20	PHF8	AGPAT2	SLC35C1	NANS	ARID1A	MYH3	CLCN3	RPL27	BRCA1	KNSTRN	NBN	PIK3C2A	KREMEN1	RPL35A	SHOC2	RPS10	RPS26	NIPBL	XYLT2	NEPRO	SETD5	SOX11	MAP3K7	SMARCE1	NSUN2	ARID1B	RPS15A	GNB2	HYOU1	MEIS2	STAG2	SOS2	RAB3GAP1	KCNN3	PEPD	SLC9A7	MAPK1	CREBBP	RAB3GAP2	TMCO1	MAFB	CHN1	RASA2	ANKRD17	APC2	SPEN	RPL15	CPOX	ZIC1	ALX1	FGFRL1	FGFR3	RAD21	CCNK	ASXL1	MAP2K1	MAN2B1	ANKRD11	KRAS	LIG4	AIFM1	SYT1	DPF2	KDM1A	CAV1	B3GAT3	CNOT3	BICRA	SPRED2	BRD4	CDH1	SMPD4	IRX5	RAB18	CCDC22	SMARCD1	TWIST2	GDF3	RPL11	VPS13B	HS2ST1	POLR1B	RRAS2	TBC1D20	ERMARD	UBE2A	RPL26	TCOF1	SIN3A	ADARB1	SPATA5L1	MADD	GNE	RPS24	FOS	MED13L	SMARCA2	SPOP	KCNJ8	PTPN11	PPP1CB	ADA2	PIK3CD	RPS19	EMC1	TRMT10A	COG5	MAP2K2	WNT4	ZC4H2	PEX6	RPL31	CHRNG	EP300	PGAP1	LMX1B	BSCL2	SATB1	RPS29	IFIH1	PEX1	TSR2	WBP11	COG7	TBX2	ALG9	CBL	WASHC5	IGF1	SVBP	CWC27	NFIX	PIGK	NOTCH3
HP_ABSENT_TIBIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_TIBIA	LMBR1	CHD7	ATP7A	GLI3	PITX1	DYNC2H1	SEMA3E
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	GDF5	HOXD13	RUNX2	INTU	MYCN
HP_ABNORMALITY_OF_THE_VESTIBULOCOCHLEAR_NERVE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_VESTIBULOCOCHLEAR_NERVE	SPRED1	PRNP	NF2	COCH	KARS1	DKK1	HRAS
HP_ASTROCYTOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASTROCYTOMA	APC2	TSC1	NF2	APC	CDKN2A	TP53	SETD2	MSH3	CHEK2	NF1	IFNG	IDH2	TSC2	POT1	PMS2	MDM2	IDH1	ERBB2	BRCA2	MLH1	MSH6	NSD1
HP_RETINAL_HAMARTOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_HAMARTOMA	NF1	SDHB	TSC2	VHL	TSC1	RET	KIF1B	NF2	SDHA	DLST	IFNG	TMEM127	SDHC	SDHAF2	SLC25A11	MAX	SDHD	FH	PTEN	AKT1	CCND1	MDH2
HP_FLEXION_CONTRACTURE_OF_THUMB	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLEXION_CONTRACTURE_OF_THUMB	DLK1	L1CAM	RTL1	ECE1	MEG3	BMP4
HP_APLASIA_HYPOPLASIA_OF_THE_THUMB	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_THUMB	CANT1	PKDCC	RTL1	RSPO2	RFWD3	PIGG	LMNB2	SUFU	RPL15	ERCC4	HDAC8	GDF5	CPLX1	FGFRL1	VPS35L	RAD21	GATA1	RB1	RIPK4	SALL4	ESCO2	COL2A1	NIPBL	FIG4	FBN1	BCOR	APC	DHODH	ATP6V1B2	EIF4A3	CTBP1	RECQL4	KDM1A	FGFR2	NELFA	TFAP2A	PSMD12	RPL18	RPS17	RPS7	HOXA13	LIG4	TRIO	UBE2T	VAC14	MGP	SLX4	MIR17HG	BICRA	SHH	RPS28	FLNA	BMPR1B	BRD4	LETM1	FZD2	FANCD2	SLC26A2	SRCAP	BRIP1	FANCI	RPL35	RAD51C	KCNH1	GNAS	MYCN	NOG	MEG3	FGF10	RPS19	NSD2	RPL11	SON	LTBP2	CHD7	RPL5	CHST11	CUL3	BRCA2	FGFR3	LMBR1	REV3L	RPL26	FRAS1	PTCH2	RPS27	FANCE	FANCA	ZNF699	SIN3A	SMC3	SEMA3E	BHLHA9	FANCC	RPS24	WIPI2	FGFR1	IHH	RPS20	PTCH1	FANCF	ADA2	TP63	ACAN	PIK3CD	RPL27	FANCB	KNSTRN	ADAMTS10	RPL35A	RPS10	RPS26	ZMYM2	RPL31	PALB2	SETBP1	MAP3K7	SF3B4	DLK1	NSUN2	RPS15A	TBX5	FANCL	RPS29	TSR2	PLXND1	PCNT	DHCR7	MAFB	ACVR1	SVBP	CHN1	SMC1A	LRP4
HP_DEVIATION_OF_THE_THUMB	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVIATION_OF_THE_THUMB	SMC3	DHCR7	HDAC8	LONP1	RAD21	CRIPT	SLC26A2	MGAT2	FLNB	ESCO2	NIPBL	CDC42	TP63	HOXA13	EIF4A3	SMC1A	BRCA1	SIN3A	CHSY1	TFAP2A	ZNF462	ZC4H2	EFTUD2	ALG12	ANKRD11	SHMT2	BRD4	FLNA	FGFR2	FANCB	ZIC3	B3GLCT	RRAS2	ALG9	PTRH2	BMP4	GATA4	NOG
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	CANT1	LMBR1	BMPR1B	PPP2R3C	PAH	KIF7	GDF5
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	CANT1	SUFU	PAH	EP300	FLNA	SLC26A2	MAP3K7	GLI3	LMBR1	FLNB	IHH	KCNH1	SALL4	GNAS	PTCH1	BMPR1B	PPP2R3C	PIK3CD	CWF19L1	CREBBP	FGFR2	HOXD13	KNSTRN	CHSY1	GLI1	PTCH2	KIF7	GDF5
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	IHH	BMPR1B	FGFR2	PQBP1	CHSY1	FGF10	RAB23	FGFR3	NONO
HP_APLASIA_HYPOPLASIA_OF_THE_PROXIMAL_PHALANX_OF_THE_THUMB	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_PROXIMAL_PHALANX_OF_THE_THUMB	IHH	BMPR1B	FGFR2	FGF10	FGFR3
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	PIK3CD	SUFU	PTCH2	SALL4	GNAS	MAP3K7	FLNA	KNSTRN	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	CANT1	RTL1	SUFU	HDAC8	GDF5	VPS35L	RAD21	SALL4	IHH	NIPBL	PTCH1	HOXA13	PIK3CD	KNSTRN	FGFR2	LMBR1	TRIO	FLNA	VAC14	SETBP1	BRD4	MAP3K7	FZD2	FGFR3	DLK1	FANCD2	FANCI	KCNH1	GNAS	NOG	MEG3	FGF10	BMPR1B	PCNT	PTCH2	ACVR1	SHH	SMC1A	CNOT1	FIG4	SMC3
HP_PARTIAL_ABSENCE_OF_THUMB	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARTIAL_ABSENCE_OF_THUMB	FANCD2	FGFR2	LMBR1	SHH	FIG4	FGF10	TRIO	VAC14	FGFR3
HP_SHORT_PHALANX_OF_THE_THUMB	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_PHALANX_OF_THE_THUMB	CANT1	RTL1	SUFU	SETBP1	BRD4	HDAC8	GDF5	MAP3K7	FZD2	VPS35L	RAD21	DLK1	SALL4	FANCI	IHH	KCNH1	GNAS	NOG	MEG3	NIPBL	PTCH1	HOXA13	BMPR1B	PIK3CD	PCNT	KNSTRN	PTCH2	ACVR1	SMC1A	FLNA	SMC3
HP_CARPAL_SYNOSTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARPAL_SYNOSTOSIS	EVC	HOXD13	FGFR3	RECQL4	SALL4	POR	ESCO2	NOG	FLNB	APC	B3GALT6	ROR2	GDF5	DYNC2LI1	CHSY1	SMOC1	PAX3	BMPR1B	HOXA13	FLNA	MYH3	MACROH2A1	BHLHA9	PITX1	NXN	EVC2	GLI1	MAP3K7	FGFR2	FBLN1	RBM8A	LRP4	ATP7A
HP_CHILBLAINS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHILBLAINS	TREX1	SAMHD1	RNASEH2C	RNASEH2B	ADAR	IFIH1	RNU7-1	RNASEH2A
HP_ABNORMALITY_OF_THE_EPIDIDYMIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_EPIDIDYMIS	IGKC	HNF1B	IGHG2	EP300	VHL	CREBBP	UNG	SRCAP	CLDN2	DHH	CCND1	PSMB8	BTK	NKX3-2
HP_PAPILLARY_CYSTADENOMA_OF_THE_EPIDIDYMIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAPILLARY_CYSTADENOMA_OF_THE_EPIDIDYMIS	EP300	VHL	CCND1	CREBBP	HNF1B
HP_HYPOMELANOTIC_MACULE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOMELANOTIC_MACULE	KRT5	TSC2	KRT14	TSC1	POFUT1	IFNG
HP_ADENOMA_SEBACEUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADENOMA_SEBACEUM	PTEN	HRAS	SDHB	TSC1	SEC23B	MLH1	SDHD	PIK3CA	AKT1	MEN1	KRT17	KLLN	NRAS	MSH2	MSH6	TSC2	KRAS	USF3	SDHC	IFNG	PLCD1
HP_SHAGREEN_PATCH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHAGREEN_PATCH	TSC2	TSC1	PTEN	SLC25A24	IFNG
HP_DENTAL_ENAMEL_PITS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DENTAL_ENAMEL_PITS	DLX3	TSC1	DSPP	COL17A1	ITGB6	AMBN	ITGB4
HP_ABNORMALITY_OF_THE_SUBUNGUAL_REGION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_SUBUNGUAL_REGION	TSC2	KRT17	TSC1	MBTPS2	IFNG	ATP2A2	KRT14	CARD14	COL7A1	TRPV3
HP_BLADDER_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLADDER_NEOPLASM	BUB1B	AKT1	NRAS	FGFR3	PIK3CA	MLH3	TP53	DLC1	BUB1	CTNNB1	TLR2	PTEN	RNF43	KRAS	PTPN12	MCC	APC	SRC	AXIN2	BAX	PLA2G2A	DCC	RB1	NTHL1	FLCN	BRAF	RAD54B	HRAS	CHEK2	EP300	CCND1	PDGFRL	AURKA	ATP7A	PTPRJ
HP_NEOPLASM_OF_STRIATED_MUSCLE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_STRIATED_MUSCLE	BUB1B	TRIP13	SUFU	DICER1	TSC1	MC1R	NBN	CHEK2	NF1	KEAP1	IFNG	FOXO1	TSC2	PTCH1	SLC22A18	MDM2	BUB3	NRAS	HRAS	PAX7	CEP57	BUB1	SOX6	MLH1	PTCH2	PAX3	CDKN2A	TP53
HP_CARDIAC_RHABDOMYOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIAC_RHABDOMYOMA	TSC2	TSC1	SOX6	SUFU	PTCH2	IFNG	PTCH1
HP_CEREBRAL_HAMARTOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_HAMARTOMA	SMO	CPLANE1	TSC1	TOPORS	VPS16	TCTN3	KIAA0753	GCDH	OFD1	PDE6D	SOX2	TSC2	SIX6	TMEM216	KIF7	FAM149B1	GLI3	IFNG
HP_GLIOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLIOMA	APC2	TSC1	NF1	CDKN2B	ZFTA	MSH6	APC	LRP5	CDKN2A	TP53	SETD2	RPS20	NBN	MEN1	MLH3	PMS2	TGFBR2	ERBB2	BRCA2	BMPR1A	MSH2	SEMA4A	TSC2	IDH1	MLH1	FAN1	CDKN1A	KRAS	PMS1	SETBP1	EPCAM	NF2	CDKN1B	MSH3	CHEK2	IFNG	IDH2	SMO	POT1	MDM2	CDKN2C	PIK3CA	NSD1	RELA
HP_ABNORMAL_ANTIHELIX_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ANTIHELIX_MORPHOLOGY	KAT6B	WAC	CREBBP	RBM10	PGAP1	BICRA	RPL10	POR	MGAT2	NSUN2	AASS	TWIST1	SLC16A2	FGFR3	EFTUD2	XYLT2	KCTD1	GLI2	PIGN	EVC2	RAB3GAP1	FIG4	EVC	FLNA	SALL1	PAX1	RECQL4	RAB3GAP2	KAT6A	EYA1	AP4E1	FGFR2	TOR1A	TRIO	FOXG1	NUP188	LIG4	STEEP1
HP_LARGE_EARLOBE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_EARLOBE	FGD1	UGDH	SETBP1	SPEN	BICRA	ELN	ZEB2	MLXIPL	PIGY	BRAF	EFTUD2	OTUD5	VPS53	DPYD	HRAS	NOTCH2	CDH11	EIF2S3	PHF6	DOCK7	DHCR24	SLC26A2	SMOC1	GJA1	PIK3CA
HP_APLASIA_OF_THE_PECTORALIS_MAJOR_MUSCLE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_PECTORALIS_MAJOR_MUSCLE	PLXND1	REV3L	TBX5	MYMK	TBX3
HP_ANKYLOBLEPHARON	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANKYLOBLEPHARON	RIPK4	ERCC4	ERCC2	CHUK	ERCC3	XPA	TP63	IRF6	BCOR	NAA10	ERCC5	XPC	DDB2	RAX	FREM2
HP_POPLITEAL_PTERYGIUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POPLITEAL_PTERYGIUM	RIPK4	CHRNG	CHUK	MYH3	IRF6	GPC6	PITX1	BHLHA9
HP_LIMB_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_PAIN	SPTLC1	COL9A2	SPTLC2	SLCO2A1	VHL	CPOX	TRAPPC2	HMBS	NLRP12	KRT17	B2M	HEPHL1	COL9A1	COL2A1	TREX1	ATL3	FN1	TGFB1	PRKRA	COL9A3	MATN3	COL5A1	KRT6B	KRT14	COL1A1	COMP	LMX1B	GJB2	ATL1	MT-TK	TONSL	MME	MFN2	KRT6A	FLI1	LEMD3	ALDH18A1	ERLIN1	MT-ATP6	RASA1	KRT5	GJB6	COL5A2	FAR1	BSCL2	ACP5	KRT16	SPG7	HTRA1
HP_LOW_HANGING_COLUMELLA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_HANGING_COLUMELLA	RAC1	AFF3	GJA1	EP300	BICRA	CDH11	KDM3B	ASXL3	CREBBP	ZEB2	HNRNPH2	MGAT2	SRCAP	POC1A	ZNF148	AIMP2	PPP1R21	NOG	TBCD	THOC6	CLCN3	ITCH	KAT6A	EDEM3	CKAP2L	RYR1	UBE2A	ATN1	CAPN15	PQBP1	TRIO	CTNNB1	ZMIZ1
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	CANT1	EOGT	SUFU	HDAC8	VPS35L	SOX9	COMP	ROR2	CLCN4	IFT122	RIPK4	GDF5	SALL4	GPC3	ABCC9	MCTP2	FIG4	LMBR1	TBC1D24	ZNF41	EIF4A3	ARSL	GDI1	FTSJ1	MEGF8	PRKAR1A	PIGW	COL11A2	ZMPSTE24	TRIO	COL2A1	VAC14	PUF60	GPC4	BGN	XYLT1	LIFR	PIGN	TBX3	RBPJ	FZD2	WDR19	FANCI	NHS	IGF2	KCNH1	GNAS	MYCN	NOG	FGF10	HDAC4	DDR2	EVC2	HOXD13	PIGL	BMPR1B	SLC9A7	GLI1	NOTCH2	TRPS1	CRKL	IDH1	CNKSR2	FRAS1	PTCH2	DVL3	SLC26A2	CNOT1	GJA1	SMC3	SLC25A24	BHLHA9	DPYS	INTU	GPX4	GMNN	TFAP2B	RECQL4	CRIPT	ARHGAP31	IHH	COL10A1	DMD	MTX2	ARHGEF6	PIGV	COG4	ARID1A	NPR2	SMARCA4	IQSEC2	WNT7A	PIGS	KNSTRN	ACSL4	DYNC2LI1	FGFR2	BMP2	NIN	SLC39A13	SYP	KIF15	MIA3	NEPRO	SETBP1	FLNA	IFT140	PDE3A	CLCN7	POR	NOTCH1	PDE4D	ZNF711	EVC	FGFR3	TSPAN7	GNB2	WDR35	JAG1	SMARCE1	ARID1B	MAPK1	MTOR	NXN	GATA1	LMNA	MED12	PORCN	PTDSS1	KCNN3	IFT52	TGFBR2	IFT57	STAMBP	FGFR1	USP9X	SHH	SMC1A	ATP6V1B2	IFT43	RTL1	CHUK	RUNX2	IL1RAPL1	SMARCB1	PIGF	KDM6A	LONP1	RAD21	HHAT	NIPBL	NFIX	PTHLH	RAB3GAP2	PHF6	PTH1R	TRPV4	TRIP11	DLG3	PGAP3	CHST3	MGP	MIR17HG	KDM5C	ZBTB20	PIGB	BRD4	MID2	RAB33B	BMP4	PIGY	CCDC22	FANCD2	EDA	PGAP2	DOCK6	MEG3	RAB23	DNMT3A	FBN1	RBBP8	CHST11	ADAMTS2	FRMPD4	ARX	ANAPC1	ALG13	RAB39B	LBR	MECOM	STEEP1	ALG6	PRKG2	ACTL6B	BCR	SMARCA2	AGTR2	PIGO	POC1A	KCNJ8	DVL1	KAT6B	PTCH1	SOX11	KMT2D	HOXA13	PIK3CD	GGCX	FN1	UPF3B	RPS6KA3	EIF2AK3	IL11RA	DLL4	DYM	MAP3K7	PTCHD1	DLK1	FLNB	USP27X	TP63	PCNT	ZNF81	PIEZO2	KMT2A	EXTL3	WNT5A	PAK3	SH3PXD2B	MECP2	PCYT1A	RBM8A	EDA2R	ACP5	ACVR1	CWC27	HCFC1	KCNJ2
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	FGF9	CHRNG	BHLHA9	HOXD13	NOG	TFAP2B	FGFR2	MYH8	GDF5	BMPR1B	IHH	PTDSS1	MYH3	CHSY1	NONO	SLC26A2	PQBP1
HP_TRIANGULAR_SHAPED_PHALANGES_OF_THE_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRIANGULAR_SHAPED_PHALANGES_OF_THE_HAND	CANT1	FGF9	SUFU	NTNG2	ZMIZ1	HDAC8	EED	VPS35L	FLNB	TRMT1	GATA1	ROR2	RAD51	MSX2	GDF5	SALL4	GPC3	ESCO2	KDM4B	RBM8A	INPPL1	FIG4	SUMF1	FANCC	TBC1D24	ACTB	EZH2	PSMD12	CHSY1	MED13	XYLT1	DOCK3	MEGF8	GLI1	MED27	ACTG1	FGFR2	CLCN3	RPL18	RPS17	RPS7	TRIO	FANCF	UBE2T	SATB2	VAC14	ERCC4	TTC26	GPC4	FANCD2	PAH	SHH	RPS28	FZD2	LMBR1	PTEN	TWIST1	FANCI	RPL35	KCNH1	GNAS	MYCN	NOG	FGF10	DDR2	BMP2	BMPR1B	ACTL6B	RPL5	TNRC6B	SUZ12	CREBBP	FGFR3	EMC10	FANCL	DPYSL5	PTCH2	DVL3	RPS27	HPGD	SLC26A2	CNOT1	FANCE	FANCA	TANC2	SMC3	CHST3	PTPN23	BHLHA9	TRIP12	INTU	PACS1	USP9X	DDX6	BCAS3	PALB2	GLI3	IHH	MADD	MAPK8IP3	RPS20	KCNMA1	ATP6V1B2	MAD2L2	PALS1	NUP107	RPL27	FANCG	KNSTRN	FBXW11	WDFY3	ACTL6A	ACAN	RPL35A	BPTF	RPS10	SMOC1	KIF15	TCF20	RPS26	SMO	HOXD13	SETBP1	MED12	FLNA	NSUN2	RPS15A	RAB23	DACT1	MEIS2	BCORL1	NXN	RLIM	KCNN3	CWF19L1	FANCB	FGFR1	CCDC32	MAFB	MYT1L	CHN1	SMC1A	HS2ST1	ANKRD17	GJA8	RTL1	FANCM	RUNX2	SRCAP	RPL15	ADNP	PIGF	RAD21	G6PC3	PRKD1	SATB1	COL2A1	NIPBL	BRIP1	SLC12A2	HTT	UBR7	KMT2E	LIG4	B3GAT3	SLX4	BICRA	PIGB	BRD4	GRIA4	HPDL	KIF7	SNIP1	MEG3	RPS19	PUF60	RPL11	BCOR	NONO	LMBRD2	RPL26	RAD51C	GATA4	TCF7L2	PUS7	BMPR1A	SIAH1	SVBP	RPS24	SYNCRIP	DVL1	EP300	PTCH1	ADA2	AGO2	PPP2R3C	SALL1	HOXA13	PIK3CD	NAA10	RNF2	WASF1	NTNG1	RPL31	GJA5	ALX4	SPTBN1	SHMT2	MAP3K7	SF3B4	CNOT3	DLK1	NSD1	RFWD3	TBX5	DLX5	RPS29	HUWE1	BRCA2	TSR2	XRCC2	TP63	PRKG2	PCNT	KAT8	SETD1A	OTUD6B	WNT5A	TRAPPC4	BRCA1	PQBP1	ACVR1	JARID2	PYCR2	EXOSC2
HP_AMNIOTIC_CONSTRICTION_RING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMNIOTIC_CONSTRICTION_RING	GJB2	POMP	SMARCAD1	GJA1	GLE1	LORICRIN	TP63	FERMT1
HP_ABSENT_THUMB	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_THUMB	RSPO2	RFWD3	RPL15	ERCC4	FANCC	RPS24	GATA1	RIPK4	SALL4	RPS20	FGFR2	FANCF	ADA2	FIG4	RPS19	RPL27	FGF10	FANCB	RPL35A	RPS10	PSMD12	RPL18	RPS17	RPS7	RPS26	VAC14	RPL31	SLX4	RPS28	SF3B4	FANCD2	RPS15A	TBX5	FANCL	FANCI	RPL35	RPS29	RAD51C	TSR2	RPL11	SON	RPL5	CUL3	RPL26	FGFR3	RECQL4	RPS27	FANCE	FANCA
HP_SHORT_THUMB	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_THUMB	CANT1	PKDCC	RTL1	PIGG	LMNB2	SUFU	RPL15	HDAC8	GDF5	CPLX1	FGFRL1	VPS35L	RAD21	GATA1	RIPK4	SALL4	COL2A1	NIPBL	FIG4	FBN1	BCOR	APC	DHODH	ATP6V1B2	EIF4A3	CTBP1	RECQL4	KDM1A	NELFA	TFAP2A	PSMD12	RPL18	RPS17	RPS7	HOXA13	UBE2T	MGP	SLX4	MIR17HG	BICRA	RPS28	FLNA	BRD4	LETM1	FZD2	FANCD2	SLC26A2	SRCAP	BRIP1	FANCI	RPL35	RAD51C	KCNH1	GNAS	MYCN	NOG	MEG3	RPS19	NSD2	BMPR1B	RPL11	LTBP2	CHD7	RPL5	CHST11	BRCA2	FGFR3	RPL26	PTCH2	RPS27	FANCE	FANCA	ZNF699	SIN3A	SMC3	SEMA3E	FANCC	RPS24	WIPI2	IHH	RPS20	FGFR2	PTCH1	FANCF	ADA2	ACAN	PIK3CD	RPL27	FGF10	KNSTRN	ADAMTS10	RPL35A	RPS10	RPS26	ZMYM2	RPL31	PALB2	SETBP1	MAP3K7	DLK1	BHLHA9	RPS15A	RPS29	TSR2	PCNT	DHCR7	ACVR1	SVBP	SMC1A	LRP4
HP_PERIANAL_ABSCESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIANAL_ABSCESS	RIPK1	TGFB1	CYBC1	IL10RA	ELANE	IKZF3	IL10RB	MNX1
HP_TERATOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TERATOMA	APC2	SETBP1	MNX1	MSH3	KIT	STK11	SETD2	PRKAR1A	NSD1	FGFR3	BCL10
HP_BRANCHIAL_ANOMALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRANCHIAL_ANOMALY	HNRNPK	PUF60	WAC	BCR	POLR1B	RPL10	EYA1	SIX1	CRKL	TFAP2A	POLR1C	SIX5	MAPK1	POLR1D	TCOF1
HP_BRANCHIAL_FISTULA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRANCHIAL_FISTULA	CRKL	SIX1	EYA1	BCR	POLR1B	POLR1C	MAPK1	POLR1D	TCOF1
HP_BRANCHIAL_CYST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRANCHIAL_CYST	PUF60	EYA1	SIX1	RPL10	SIX5
HP_SUPERNUMERARY_SPLEENS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPERNUMERARY_SPLEENS	HYDIN	GPC3	RFWD3	B9D2	ZMYND10	GDF1	DRC1	CPLX1	FGFRL1	DNAI1	CCDC40	RSPH3	MCIDAS	CEP290	MYRF	DNAH5	WDR35	TMEM216	CCDC39	STK36	GAS2L2	LETM1	HYLS1	CCDC103	DNAAF11	CFAP300	DNAAF2	SPAG1	ODAD1	CTBP1	TMEM107	DNAL1	TTC12	CCNO	RSPH9	TCTN2	CFC1	ODAD2	TMEM67	CFAP45	RPGRIP1L	CDON	GPC4	CFAP298	MEGF8	MKS1	MMP21	DNAAF1	FOXJ1	NEK10	DNAAF4	ODAD3	ODAD4	CC2D2A	CENPF	DNAAF5	LRRC56	GAS8	RPGR	B9D1	CSPP1	RSPH4A	RAB23	TMEM237	RPGRIP1	YARS1	RSPH1	DNAAF3	DNAH9	CCDC65	MYCN	TCTN3	DNAJB13	OFD1	DNAH11	ESCO2	NSD2	NME8	NPHP3	TXNDC15	ZIC3	DNAI2	TCTN1	WT1	ATP6AP1	CFAP221	SPEF2	TMEM231	DNAH1	DNAAF6	EXOC2
HP_MATERNAL_DIABETES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MATERNAL_DIABETES	GLI2	CDON	OTX2	ARNT2	ZIC2	GAS1	HYMAI	ABCC8	VANGL1	PPARG	SLC12A3	KCNJ11	FGF8	VANGL2	SUFU	NODAL	SOX2	CTRC	SHH	TGIF1	COL2A1	FGFR1	DLL1	GJA1	PROKR2	HNF1A	FCGR3B	MTHFR	PTCH1	SPINK1	FOXH1	ZFP57	CLCNKB	HESX1	TDGF1	DISP1	NKX2-5	SIX3	PLAGL1	FUZ	SOX3
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	FIG4	LMNA	LMBR1	BMPR1B	FGFR3	FANCD2	MEGF8	FGFR2	SHH	GJA1	FGF10	TRIO	VAC14
HP_NEPHROGENIC_DIABETES_INSIPIDUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEPHROGENIC_DIABETES_INSIPIDUS	CCDC28B	AVPR2	BBS1	ARL6	AQP2	VPS33B	VIPAS39
HP_ABNORMALITY_OF_UPPER_LIMB_METAPHYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_UPPER_LIMB_METAPHYSIS	NDN	EZH2	TRPV4	PHEX	RECQL4	STX16	COL2A1	MMP13	COL10A1	TRAPPC2	ANAPC1	GNAS	COMP	SNRPN	MAGEL2	MMP9	RPL13
HP_ABNORMALITY_OF_UPPER_LIMB_JOINT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_UPPER_LIMB_JOINT	ITGB4	UNC80	MECP2	PYROXD1	RTTN	XYLT1	SALL4	RRAS	RAC3	GPC3	IL6ST	RIT1	LMBR1	BCOR	FLVCR1	PAX3	HSPG2	SPRTN	CHSY1	GTF2H5	PIEZO2	FBN2	SOS1	EIF4H	SELENON	MMP13	EMD	ERCC2	LIFR	BMPR1B	FZD2	MYLPF	IGHMBP2	WDR4	TWIST1	CHRNG	RSPRY1	LAMA2	EVC2	HOXD13	DMP1	NEFL	COLQ	ESCO2	CRKL	LMNA	SLC6A9	PSTPIP1	SMC3	TNNI2	CHST3	ERLIN2	BHLHA9	DHODH	LAMC2	CLCN5	B4GALT7	ERCC1	GLI3	COLEC10	RMRP	KIDINS220	NALCN	CYP26B1	SKI	CLCN3	KY	SMC1A	TONSL	WNT7A	HRAS	DYNC2LI1	CAV1	RAB3GAP1	BRAF	SMOC1	ECEL1	NIPBL	CD96	FLNA	PITX1	ALX3	PLOD2	GNE	ZDHHC9	METTL27	RNU4ATAC	MAP3K7	TGFBR2	CREBBP	GNPTAB	DYRK1A	PRG4	ALDH18A1	ERGIC1	COL12A1	PLOD1	IDS	ADAT3	GDF5	ENPP1	LONP1	RTL1	KAT6B	CADM3	RAD21	NLRP3	GALNS	FGFR2	COL2A1	ELN	VPS13B	FERMT1	GMNN	COL9A1	KRAS	FGFR3	ADAMTS3	BMP1	SIK3	RIPPLY2	FKBP6	BRD4	SLC26A2	PEX5	TNNT3	CSGALNACT1	KCNK9	TGDS	EMG1	BUD23	ANAPC1	DNAJC30	MBTPS2	LGI4	CLCF1	SIL1	CCR6	VPS37D	FBN1	MATN3	CRLF1	FDFT1	PPP1CB	L1CAM	PTDSS1	HACD1	MASP1	NOG	CCDC8	TFE3	EIF2AK3	ANTXR2	EP300	LMX1B	TUBB3	COL6A1	ZIC1	FBLN1	PORCN	MYOD1	LRP4	OCRL	POLR3GL	PTPN11	CANT1	ORC1	HDAC8	KRT14	ORC4	FLNB	COMP	KRT9	DONSON	ASAH1	MYH3	CTCF	RAF1	AIFM1	CTBP1	COL11A2	TFAP2A	PRKAR1A	TBX22	ALG12	PRKCZ	EXT1	TBX3	RAPSN	ZMPSTE24	CTDP1	IDUA	MAFB	CYP27A1	LZTR1	MESP2	UROS	SHOX	GJA1	ACTG2	VDR	PTRH2	CCBE1	GHR	TMEM70	TFAP2B	KCNAB2	FHL1	IHH	SF3B4	CBL	COL6A3	NUP107	C19orf12	CNTN1	SLC39A13	SLC25A46	SETBP1	PDPN	ERCC6	GSC	MYL2	MAPK1	LEMD3	NRAS	SOS2	MUSK	ITCH	CDC45	SHH	COL7A1	APC2	AFF3	TBC1D2B	ALG3	POR	MBTPS1	TMEM43	CPLX1	SPEN	MAP2K1	MEGF10	BPTF	B3GALT6	PTH1R	DYM	KMT2A	GPC6	TRIP11	XRCC2	MORC2	RECQL4	RPL10	PIGY	DVL3	COLEC11	TRPV4	BAZ1B	MEG3	EBP	NOTCH2	TCTN3	MIR140	RRAS2	CUL4B	MYBPC1	ARID1B	ROR2	TCF12	TRAPPC2	NIN	NOD2	DLK1	HOXA13	HEPHL1	KIAA0319L	ASXL3	SLC35A2	PTEN	GPC4	MED12	NSD1	B3GLCT	PEX1	PYCR1	WDR73	CLIP2	EXTL3	GTF2IRD1	RBM8A	ORC6	ADAMTSL2	TGFB3	IRF5	EXOC6B	TP63	CDC6	TWIST2	SFRP4	GTF2I	EZH2	NCF1	DYSF	TOR1A	AMER1	SYT2	MMP2	PTPN22	TPRKB	EXT2	DDR2	SLC29A3	SYNE2	COL6A2	COL5A2	SMAD3	HOXA11	COL9A3	PHGDH	KDM5C	ITGA7	EED	FGF16	EFNB1	MRAS	SLC10A7	BCL7B	SMG9	GPKOW	MED25	CCN6	AUTS2	PIGV	PRDM16	IFITM5	MAP3K20	OBSL1	NXN	NSD2	ACTA1	GLE1	COL11A1	FGFR1	DVL1	SNRPB	AKT1	SVIL	ATP7A	FGD1	TPM2	ASXL1	RERE	RFC2	FKBP10	SLC35A3	PTPN2	COL17A1	KIF22	COL1A1	GJB2	BICRA	SPRED2	DOK7	BMP4	MYH7	MACROH2A1	ATR	CYP2R1	NONO	KRT16	CDH3	DLL3	EVC	SLC34A3	PIGL	PLOD3	ECE1	MAF	FKTN	WNT5A	NUP88	PMP22	COG5	ANKRD55	TGFBR1	IL2RA	TRPS1	WNT4	SYNE1	TMEM222	PSMD12	HLA-DRB1	IL2RB	CDT1	SRD5A3	AEBP1	PQBP1	FGF9	MLXIPL	SRY	CAPN3	SMARCAD1	APC	ABCC6	FBXW11	LARGE1	LIMK1	LAGE3	PSMB8	BGN	KRT1	POP1	NF1	OPA3	LARS2	UBE4B	TPM3	SUZ12	GLI1	IDH1	COL9A2	OSGEP	LAMB2	SETD2	SHOC2	TBX15	NANS	NPR2	LFNG	CD247	PLEKHG5	MYOT	MMP23B	GDAP1	ZNF407	ANO5	SLC34A2	STXBP1	GNB2	NAA10	GLB1	UPF3B	COL27A1	TBL2	RPL26	CCN2	UFSP2	RASA2	ALX1	FGFRL1	CUL7	MECOM	CYP27B1	STAG1	TMEM270	FAT4	LAMB3	KIF5A	B3GAT3	PIK3C2A	CPT2	TP53RK	NUP133	STX1A	SCARF2	SRCAP	RAB23	HS2ST1	CASZ1	ERCC5	SLC18A3	HINT1	DHCR24	P4HTM	BCR	GTF2IRD2	DMD	LETM1	PPP2R3C	SLC39A8	LUZP1	SLC35D1	BANF1	HES7	IKBKG	MAP2K2	TBR1	COL5A1	POLR3A	PEX6	JAG2	GABRD	TBX5	STAT4	MMP14	UBA1	SH3PXD2B	PCNT	TMEM218	LAMA3	PEX2	DHX16
HP_ABNORMALITY_OF_THE_ELBOW	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ELBOW	FGF9	ORC1	RAF1	UNC80	EXOC6B	SRY	COLEC10	DONSON	HDAC8	ORC4	CDC6	FLNB	COMP	CAPN3	XYLT1	BRAF	SFRP4	SALL4	PITX1	NOG	LMNA	ASAH1	BCOR	APC	ABCC6	HSPG2	DYSF	SPRTN	ROR2	LARGE1	FBN2	MATN3	GDF5	SOS1	TOR1A	SELENON	TFAP2A	PSMB8	MMP13	PRKAR1A	SYT2	BGN	EMD	LIFR	POP1	CANT1	FZD2	FGFR3	MYLPF	NF1	OPA3	LARS2	CHRNG	IDUA	RSPRY1	CYP27A1	LZTR1	DDR2	LMX1B	LAMA2	EVC2	SLC29A3	SHOX	TPM3	SYNE2	GLI1	FGFR2	ESCO2	COL6A2	RNU4ATAC	COLEC11	COL6A1	COL5A2	SLC6A9	COL6A3	GHR	SLC26A2	PSTPIP1	HOXA11	SMC3	COL9A3	CHST3	ERLIN2	COL9A2	ITGA7	PTPN11	NALCN	B4GALT7	RECQL4	POR	SHOC2	FHL1	TBX15	RMRP	CBL	CYP26B1	FBN1	SKI	NUP107	B3GALT6	NPR2	CLCN3	KY	COL2A1	SMC1A	TONSL	WNT7A	HRAS	ERCC6	TUBB3	DYNC2LI1	MYOT	GPC6	SMOC1	ECEL1	SLC39A13	NIPBL	CD96	FLNA	SLC25A46	GJA1	ANO5	MAP3K7	STXBP1	EVC	CCN6	GSC	IFITM5	MYL2	GNB2	MAP3K20	ARID1B	PLOD2	OBSL1	NXN	COL12A1	MUSK	PTDSS1	COL27A1	ITCH	MAPK1	CREBBP	ACTA1	GLE1	FGFR1	DVL1	SNRPB	CDC45	DYM	SVIL	COL7A1	ALDH18A1	ATP7A	ERGIC1	MYH3	AFF3	PLOD1	ASXL1	TMEM43	CUL7	RAD21	EXTL3	GALNS	STAG1	TPM2	VPS13B	MAP2K1	GMNN	COL9A1	BPTF	FKBP10	PTH1R	KMT2A	B3GAT3	BMP1	PIK3C2A	CPT2	SIK3	KIF22	COL1A1	KDM5C	GJB2	BRD4	SCARF2	PIGY	DVL3	MACROH2A1	ATR	SRCAP	PEX5	CSGALNACT1	KCNK9	KRAS	HS2ST1	NOTCH2	MIR140	MECOM	CUL4B	ENPP1	TRPV4	P4HTM	LGI4	SIL1	CLCF1	TRAPPC2	PLOD3	WNT5A	CRLF1	DMD	FDFT1	PPP2R3C	SLC39A8	HEPHL1	PPP1CB	BANF1	HACD1	PEX1	MASP1	CCDC8	MAP2K2	TFE3	WNT4	SYNE1	COL5A1	EZH2	EP300	TMEM222	JAG2	PSMD12	SF3B4	MED12	ERCC1	TBX5	B3GLCT	PYCR1	UBA1	PCNT	CDT1	SRD5A3	PEX2	AEBP1	LRP4	ORC6
HP_APLASIA_HYPOPLASIA_OF_THE_EXTREMITIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_EXTREMITIES	IFNGR1	FAM50A	LMNA	SEM1	LMNB2	OFD1	NTNG2	UNC80	MECP2	TBCE	LZTFL1	DDRGK1	PLXND1	CDKN1C	CCDC28B	CLCN4	DLK1	NDN	RB1	HYLS1	XYLT1	SALL4	GPC3	LMBR1	FANCC	SNRPN	CEP120	BCOR	HSPG2	CHSY1	MED27	IFT140	HDAC4	PIGW	TGFB1	FANCF	MMP13	UBE2T	ERCC4	FANCD2	RBM10	LIFR	BMPR1B	FZD2	DYNC2H1	PRMT7	WDR19	BRIP1	ZIC3	CHRNG	RAD51C	GNAS	RSPRY1	FGF10	PEX7	SLC39A13	MYCN	AGPS	RPL10	EVC2	HOXD13	LBR	ESCO2	EMC10	CRKL	FGFR2	CILK1	FRAS1	HESX1	GJA1	LRP4	SMC3	TBX4	SEMA3E	CHST3	PTPN23	BHLHA9	TRIP12	DHODH	GMNN	PHYH	SMARCB1	FKBP10	MEG3	WIPI2	CPLX1	RMRP	MAD2L2	FANCA	COG4	RPL27	SMC1A	FANCB	TONSL	WNT7A	KNSTRN	KDM6A	DYNC2LI1	FBXW11	WDFY3	PIK3C2A	ALMS1	IDH1	FAM20C	RPL35A	RAI1	SMOC1	DYNC2I1	TCF20	RPS26	NIPBL	CD96	FLNA	IFT81	MAGEL2	KCNA1	PDE4D	HDAC6	ZNF711	RTL1	TELO2	ARID1B	RPS15A	WDR35	PITX1	JAG1	CSPP1	SEMA5A	MEIS2	BCORL1	RLIM	GATA1	SLCO2A1	RNU4ATAC	KCNN3	MAP3K7	NPAP1	GALNT2	DHCR7	GNPTAB	TRIP11	GDF5	PIGN	STAMBP	ALOXE3	RPS6KA3	USP9X	DYRK1A	MYT1L	FIG4	OCA2	PKDCC	RPL15	NOG	PIK3CD	LONP1	KAT6B	RAD21	GLI3	COL2A1	VPS13B	FERMT1	ATP6V1B2	COL9A1	KCNH1	NGLY1	FGFR3	KMT2E	HOXA13	SIK3	MGP	SLC26A2	PAM16	PIGB	BRD4	PIGL	HPDL	EDA	SMARCD1	DOCK6	SLC6A17	RUNX2	CSGALNACT1	SNIP1	FBN1	CDKL5	ANAPC1	PDE3A	FANCE	MSL3	ALG6	GRIP1	ACTL6B	CHRND	TCF7L2	PNKP	PUS7	HDAC8	FLI1	SIL1	TWIST2	SYNCRIP	CLTCL1	SCN1B	SOX9	POC1A	MATN3	CRLF1	SATB2	TAPT1	PTCH1	AGO2	IGF1R	RPS19	FGFR1	PTDSS1	TCF4	GGCX	PIK3R1	PHF6	CCDC8	ADAMTS10	PIGT	PDHA1	WNT10B	EIF2AK3	SALL1	SNORD115-1	DLL4	DYNC1H1	ACAN	ANTXR2	TRPV4	LMX1B	DVL3	SPTBN1	GPX4	MAPRE2	USP27X	ORC6	XRCC2	LIG4	GABBR2	KAT8	ACVR1	SETD1A	ZNF81	MET	KIAA0753	AFF4	COX4I1	RECQL4	BRCA1	ACP5	TNNT3	SVBP	SERPINH1	KCNJ2	IDH2	CANT1	ORC1	PIGG	ORC4	KDM4B	FLNB	COMP	IFT122	RIPK4	DONSON	ASAH1	CTBP1	C12orf57	MEGF8	COL11A2	TFAP2A	PSMD12	LAS1L	PRKAR1A	TBX22	ZMIZ1	FGD1	TBC1D24	RPS28	PRKCZ	CENPE	EXT1	TBX3	FANCI	RPL35	NALCN	SHOX	CERT1	ABCC9	RPL5	SCUBE3	TNRC6B	ALPL	MMP9	CUL4B	CCBE1	EN1	GHR	BPNT2	ADNP	LHX4	TFAP2B	CRIPT	TRAPPC2	PALB2	KCNAB2	INPPL1	IHH	ARL6	PIGQ	SF3B4	DMD	COG1	COL1A1	FANCG	ZMPSTE24	PIGS	ACSL4	ACTL6A	FN1	BMP2	UBR7	ARX	CUL7	SETBP1	PDPN	GJB2	ALG12	NOTCH1	GSC	NSUN2	TSPAN7	MAPK1	ADA	MED12	CDC45	MASP1	SHH	HS2ST1	ANKRD17	RFWD3	AFF3	SRCAP	IL1RAPL1	GAD1	SLC35D1	SATB1	ABCA12	RSPO2	DCLRE1C	SPEN	KIAA0586	USP7	BPTF	PTH1R	DYM	KMT2A	DLX5	GPC6	PGAP3	SLX4	CNOT3	KIFBP	PCYT1A	PIGY	HBA2	CHD7	FMR1	RNF2	TP63	SMO	EBP	TCTN3	MIR140	INPP5K	TRAF3IP1	UBE2A	IDUA	CRTAP	PRKG2	SIN3A	ROR2	PCGF2	KCNJ8	HERC2	NKX2-6	GLUL	SOX11	HEPHL1	COL1A2	SLC35A2	MBD5	UPF3B	WASF1	SLC35C1	GPC4	ZMYM2	RPL31	CTNND2	PTCHD1	SON	RPS29	B3GLCT	RPL11	NEK1	TSR2	EXTL3	SH3PXD2B	GJB6	RBM8A	DVL1	SPECC1L	HCFC1	KLHL15	ADAMTSL2	SPART	CWC27	WDR81	SMAD4	B9D1	IL7R	EXOC6B	PRKACB	CDC6	TRMT1	EOGT	RAD51	RAG2	DPM1	EVC	SCN2A	ARSL	DOCK3	MAPK8IP3	FBXO11	KDM1A	SUCLG1	NELFA	RPL18	TRIO	AMER1	YY1AP1	INTU	RAG1	PEX5	LETM1	ACTB	EXT2	SMARCA4	DDR2	FTSJ1	OBSL1	FANCL	DPYSL5	PTCH2	GNAO1	COL9A3	PLAG1	PHGDH	CHD4	SLC25A24	KDM5C	WAC	TBCK	FUT8	ARHGAP31	COL10A1	KCNMA1	SLC10A7	NTNG1	MTX2	ARHGEF6	HPGD	CHUK	PPM1D	ARID1A	IQSEC2	MKRN3	RPS10	NEPRO	POR	CCN6	PIGV	PRDM16	SMARCE1	MTOR	NXN	POU1F1	NHS	IFT52	NSD2	COL11A1	CCDC32	FAT4	SNRPB	TBL1XR1	ARL6IP6	HBA1	ATP7A	COL3A1	CCNQ	MBTPS2	TPM2	PIGF	FBXL3	CAMK2G	RERE	KYNU	TRRAP	SMARCA2	ASXL1	SLC12A2	RAB3GAP2	IFT172	LTBP3	DLG3	KIF22	BICRA	IRX5	GRIA4	HMGA2	BMP4	MACROH2A1	ATR	PGAP2	IFT80	LTBP2	RBBP8	FRMPD4	SIK1	RAB39B	REV3L	NBAS	CDK10	KIF7	GRM7	PCNT	MRPS28	DMXL2	TMEM67	DNMT3A	PPIB	RPS24	MYSM1	CDT1	CASK	AGTR2	BTRC	WNT5A	ADA2	HHAT	DHCR24	TRPS1	CFAP410	PAPSS2	PIGO	B2M	CHRNA1	BRCA2	CEP57	PAK3	SNORD116-1	AMMECR1	FGF9	SUFU	SRY	VPS35L	ARID2	NEUROD2	XRCC4	MCTP2	APC	ZNF41	EIF4A3	MED13	CTSK	GDI1	NPR2	CNOT2	CLCN3	IGF2	ALDH18A1	RPS17	RPS7	VAC14	PUF60	BGN	PROP1	ALOX12B	KMT2D	POP1	RBPJ	UBE4B	ARCN1	WRN	EPS15L1	SLC9A7	GLI1	CUL3	CDH11	NOTCH2	KAT6A	HUWE1	CNKSR2	RPS27	BBS1	ZNF699	TANC2	COL9A2	MAB21L2	KIF5C	SOX4	DDX6	LHX3	BCAS3	SMARCC2	TBX15	GNPAT	MADD	RPS20	PALS1	NANS	B3GALT6	RAC1	TUBB3	CTC1	MMP23B	POLR3A	IFT43	NIN	SYP	KIF15	MIA3	ZNF407	CLCN7	STXBP1	MYH3	GNB2	DACT1	GNAS-AS1	PORCN	RPL26	IFT57	NSDHL	PWAR1	WNT3	AP1G1	MAFB	CHN1	PRKACA	FANCM	TRIM8	DCHS1	FGFRL1	TNNI2	HTT	TTC21B	FBXL4	NFIX	DPYD	CCDC47	IL2RG	PTHLH	PUM1	P3H1	AIFM1	DPF2	DYNC2I2	ZSWIM6	B3GAT3	MIR17HG	ZBTB20	SIM1	MID2	RAB33B	SCARF2	CCDC22	PLCB3	TWIST1	RAB23	EFNB1	CASZ1	CHST11	ADAMTS2	KRAS	ALG13	MECOM	LMBRD2	HINT1	STEEP1	SHROOM4	BCR	DPH1	KCNJ5	PPP2R3C	SLC39A8	LUZP1	IKBKG	PWRN1	POLE	EZH2	GABRD	SKI	TBX5	CREB3L1	ALG9	PIGP	TRAPPC4	SLC25A22	EDA2R	DLX6	STX16	JARID2
HP_LOWER_LIMB_UNDERGROWTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_LIMB_UNDERGROWTH	COL2A1	SHOX	PAPSS2	MMP13	PPIB	CHUK	EXT1	ALPL	NOG	FN1	EXT2	ARL6IP6	SLC26A2
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	LMBR1	LMNA	CHD7	KCNN3	BMPR1B	ATP7A	DYNC2H1	FIG4	GLI3	GDF5	PITX1	SEMA3E	VAC14
HP_UPPER_LIMB_UNDERGROWTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_LIMB_UNDERGROWTH	TRIP11	RTL1	RFWD3	FANCM	CCNQ	EXOC6B	DONSON	CUL7	VPS35L	RAD51	SALL4	ESCO2	COL2A1	FANCC	BRIP1	APC	DHODH	EIF4A3	BPTF	LBR	FANCF	ERCC4	CHST3	SLX4	FANCD2	RBM10	BMPR1B	EXT1	DYNC2H1	SCARF2	SLC26A2	ATR	FANCI	EXT2	RAD51C	MEG3	FGF10	RPS19	SHOX	CHD7	FANCB	FGFR3	FANCL	FANCE	LRP4	PIGT	SEMA3E	TBX3	RECQL4	PALB2	UBE2T	IHH	MAD2L2	FGFR2	FANCA	HYLS1	NPR2	CHUK	FANCG	GDF5	WNT7A	CCDC8	FN1	NIPBL	IFT81	DPM1	ALG12	PSMD12	SF3B4	PDE4D	B2M	DLK1	JAG1	TBX5	OBSL1	BRCA2	XRCC2	RPL26	PRKAR1A	AFF4	BRCA1	MAFB	CHN1
HP_APLASIA_INVOLVING_BONES_OF_THE_EXTREMITIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_INVOLVING_BONES_OF_THE_EXTREMITIES	LMBR1	LMNA	BMPR1B	DYNC2H1	FGFR3	FANCD2	FGF10	FIG4	CHD7	KCNN3	ATP7A	MEGF8	FGFR2	SHH	GJA1	GLI3	GDF5	TRIO	PITX1	SEMA3E	VAC14
HP_LIMB_UNDERGROWTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_UNDERGROWTH	B9D1	EXOC6B	DONSON	PRKACB	HDAC8	DDRGK1	VPS35L	CDKN1C	COMP	ROR2	IFT122	RAD51	HYLS1	RIPK4	SALL4	DPM1	XRCC4	ESCO2	FGFR3	FANCC	CEP120	APC	HSPG2	EIF4A3	MMP13	CTSK	NPR2	MATN3	IFT140	COL11A2	FANCF	ERCC4	PUF60	SLX4	FANCD2	RBM10	PEX7	BMPR1B	EXT1	FZD2	ACTB	DYNC2H1	FANCI	EXT2	RAD51C	FGF10	COL2A1	DDR2	AGPS	EVC2	ARCN1	SHOX	LBR	CHD7	FANCB	GLI1	ALPL	RMRP	FANCL	SLC26A2	CILK1	DVL3	NEK1	ZNF699	LRP4	SMC3	PIGT	SEMA3E	CHST3	FGFR2	PHGDH	COL9A2	ACAN	TBX3	MAB21L2	TBCK	DHODH	GPX4	FUT8	RECQL4	PALB2	INPPL1	WDR35	TBX15	IHH	GNPAT	MAD2L2	COG1	FANCA	COL1A1	CHUK	FANCG	RAC1	KIAA0586	TONSL	WNT7A	DYNC2LI1	IDH1	FAM20C	GPC6	IFT43	NIN	COL9A3	KIF15	DYNC2I1	PTH1R	NIPBL	CD96	FGFR1	HDAC6	FLNB	IFT81	ALG12	GDF5	PDE4D	EVC	GSC	JAG1	CSPP1	MTOR	WDR19	OBSL1	NXN	LONP1	RNU4ATAC	IFT52	DHCR7	RPL26	TRIP11	COL11A1	DVL1	ARL6IP6	MAFB	DYM	CHN1	SMC1A	PRKACA	PKDCC	RTL1	RFWD3	FANCM	AFF3	LIFR	CCNQ	COL10A1	MBTPS2	GAD1	SLC35D1	CUL7	RAD21	HHAT	GLI3	TTC21B	KYNU	DPYD	ASXL1	BRIP1	COL9A1	BPTF	NGLY1	KMT2A	IFT172	DYNC2I2	B3GAT3	SIK3	PAM16	BRD4	SCARF2	PCYT1A	PIGY	PLCB3	ATR	FLNA	TRPV4	CSGALNACT1	MEG3	RPS19	EFNB1	IFT80	SMO	EBP	ADAMTS2	TCTN3	MIR140	NBAS	KIF7	FANCE	DHCR24	CRTAP	LTBP3	PRKG2	PCNT	PPIB	MYSM1	CLTCL1	POC1A	UBE2T	WNT5A	TAPT1	GLUL	SLC39A8	NOG	CCDC8	FN1	COL1A2	PDHA1	SLC35C1	CFAP410	POLE	ANTXR2	PAPSS2	B3GLCT	PSMD12	SF3B4	B2M	DLK1	GHR	TBX5	CREB3L1	BRCA2	XRCC2	ALG9	CEP57	EXTL3	PRKAR1A	AFF4	BRCA1	ACP5	SERPINH1	IDH2
HP_PHOCOMELIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHOCOMELIA	SF3B4	LBR	RBM8A	TBX5	ESCO2	WNT7A	NIPBL	LMBR1
HP_PERIPHERAL_NEUROPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_NEUROPATHY	SACS	COA7	PMP22	HARS1	MYO9A	SELENOI	MPV17	AGRN	BIN1	OPA1	TIMMDC1	GSN	MT-TE	PDX1	NDUFA13	BRAF	AIFM1	ABCD1	DPM1	MT-CYB	DNM1L	INF2	FAH	MT-ND1	PIK3R5	MT-ND3	INS	ERCC3	FXN	CTLA4	TIMM8A	ATXN3	PLD3	TRAPPC11	WARS1	HINT1	SCN9A	PRPS1	ATXN1	WDR48	CYP27A1	TMPRSS6	ABCA1	TGFB1	IGHMBP2	WFS1	IDUA	NDUFA10	MTHFR	MORC2	SUCLA2	PEX7	ATAD3A	CRAT	MPLKIP	ERCC2	TOP3A	PEX5	SLC25A1	RNASEH1	GCK	NDUFS2	TPI1	CTSD	TWNK	MT-TH	MT-ATP6	MT-TK	POLR3A	MTRFR	NF2	PDK3	FBLN5	MYF6	FOXRED1	TRIP4	ERBB2	ERCC5	SURF1	TBCD	GARS1	LAMA2	MT-CO1	NEFL	GTF2E2	MT-ND4L	ARL6IP1	POLG	MYH14	AP5Z1	RNASEH2C	ATP13A2	AAAS	IFIH1	GCLC	RNU7-1	PLP1	SMC3	MFN2	FDX2	GLE1	SPTLC2	CLP1	PSAP	CA2	DHH	PRICKLE1	MT-ND6	PHYH	ERCC1	OSTM1	SGPL1	SLC46A1	DNMT1	DARS2	TNFRSF1B	MT-TF	NDUFS4	B2M	GALC	KIF1A	SCP2	AFG3L2	PET100	HLA-DPA1	SPTBN1	C19orf12	AMACR	LYST	PPP2R2B	RAI1	CCT5	NDRG1	GJC2	PMM2	MT-ND5	RMND1	KRT14	SLC25A4	FUCA1	MT-CO2	TARS1	POLG2	NAGA	DEGS1	NOTCH3	NARS1	RAB18	RAB7A	GBA2	CPOX	XK	ATP7B	MT-TL1	SCN10A	HSPB1	MT-CO3	MT-TW	GNPTAB	NDUFAF3	ZFYVE26	PEX11B	AMPD2	MYD88	HK1	HADH	SMC1A	MFF	REEP1	ALDH18A1	ATP6V1B2	NDUFS8	DYNC1H1	TDP1	PTPN22	PLOD1	AGXT	IDS	SH3TC2	HADHB	ADAT3	DNM2	BAG3	CADM3	RAD21	NDUFV2	MRE11	CISD2	IBA57	COA3	ADAR	NDUFA4	WNK1	RAB3GAP1	PNPLA6	SIL1	FMR1	MYOT	FLRT1	DNASE1L3	ERBB3	IARS2	NGLY1	PNKP	ARSA	NDUFA9	SLC25A46	SLC52A2	MARS1	FBN1	GRM1	TTR	NDUFAF2	PIGB	GCDH	BRD4	SLC5A7	SLC30A10	LDB3	DGUOK	ATL1	MAG	FA2H	KCNK9	ERCC6	RRM2B	MICU1	DMXL2	COL13A1	PEX10	TK2	NDUFA12	LRPPRC	HMBS	FGF14	KRAS	CTDP1	DSTYK	GBE1	KCNJ10	VPS13D	HSPB8	SCYL1	SPTLC1	STX11	ERLIN2	VPS13A	FLII	LMNA	PMPCA	VPS41	RETREG1	ASCC1	CAPN1	DST	DEAF1	COASY	VWA1	MPZ	UCHL1	PRTN3	SPG11	SEPTIN9	B4GALNT1	PHF6	NDUFS7	PDHA1	EGR2	BSCL2	GJB1	HLA-DPB1	ARSB	TRPV4	UNC13D	SETX	DNAJC3	TFG	NDUFA2	COG8	TUBB3	MME	ECHS1	CACNA1A	MT-ND4	RNASEH2A	DNAJC30	ADA2	HLA-DRB1	KLC2	SLC19A3	COX15	XRCC1	RFC1	KCNJ11	PRF1	TTPA	PPOX	SPG7	HDAC8	ATP1A1	IRF4	APTX	STAT3	XRCC4	PIEZO2	HLA-B	IFRD1	PEX12	TBC1D24	CYP7B1	SCO2	BTNL2	HADHA	KARS1	NDUFAF5	LIG3	INSR	KLHL9	HNRNPA2B1	ELOVL5	RNF170	GDAP1	ATP5F1E	VCP	SNAP25	MTMR14	WAS	TNXB	NOTCH2	TBCE	NEMF	AR	KRT5	EDNRB	NDUFV1	SLC12A6	PLA2G6	TACO1	TTBK2	DKK1	SYT2	RNASEH2B	XPA	HLA-DQA1	SERPING1	ERCC8	CHAT	SLC5A6	GNAS	ALAD	TBC1D20	POLR3B	CLCN6	ERCC4	SPG21	NF1	GAN	P4HA2	NAGLU	GTF2H5	GJB2	NDUFB8	GNB2	ABCC8	ELP1	PNPT1	TYMP	PSMC3	ALDH4A1	NEFH	ACER3	PEX6	SOX10	COMP	XPC	SAMHD1	PDE4D	ACO2	HSD17B4	MTRR	NDUFAF6	SMPD1	NIPBL	CYP2U1	ELOVL4	DDB2	AP1S1	NDUFS3	SNAP29	VAMP1	SDHA	COA8	SPTBN4	RAB3GAP2	ATL3	MT-TS2	KIF5A	NAGS	SCN11A	AARS1	MT-ND2	CD28	AHCY	LIPT1	MPC1	MTFMT	RNF113A	SLC18A3	UQCRC1	INPP5K	CD59	WIPF1	FAM126A	RNF168	TXN2	SYNE1	SLC25A19	ACOX1	MT-TV	NGF	ALS2	HNRNPA1	ZFR	CLCF1	GMPPA	HSD3B7	DCAF8	KIF1C	RPIA	KIF1B	COX20	COQ7	STXBP2	ABHD12	HSPB3	ATXN8OS	HLA-DQB1	COX6A1	HFE	SHMT2	PDYN	AP1B1	PLEKHG4	MCM3AP	NDUFS1	PEX1	UBA1	IQSEC2	TRIM2	PRKAR1A	ARSI	SLC52A3	GJB6	TREX1	RYR1	MT-TQ	PDSS1	DHX16	DDHD1	MANBA
HP_ABNORMAL_DISTAL_PHALANX_MORPHOLOGY_OF_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DISTAL_PHALANX_MORPHOLOGY_OF_FINGER	CANT1	EOGT	SUFU	UNC80	VPS35L	LRP4	ROR2	CLCN4	IFT122	GDF5	GPC3	ABCC9	MCTP2	FIG4	TBC1D24	ZNF41	ARSL	CTSK	GDI1	FTSJ1	PIGW	ZMPSTE24	VAC14	GPC4	PAH	PIGN	TBX3	RBPJ	LMBR1	WDR19	IGF2	KCNH1	SALL4	GNAS	NOG	COL2A1	DDR2	EVC2	PIGL	BMPR1B	SLC9A7	GLI1	CREBBP	NOTCH2	CRKL	LMNA	CNKSR2	PTCH2	CHST3	SLC25A24	HOXD13	DSP	NALCN	CRIPT	ARHGAP31	IHH	COL10A1	DMD	MTX2	ARHGEF6	PIGV	COG4	ARID1A	B3GALT6	SMARCA4	IQSEC2	PIGS	SPTBN1	KNSTRN	ACSL4	DYNC2LI1	TFAP2B	SYP	SETD5	SETBP1	FLNA	CLCN7	POR	NOTCH1	ZNF711	EVC	TSPAN7	WDR35	PITX1	JAG1	SMARCE1	ARID1B	MAPK1	MTOR	NXN	RAB3GAP1	MED12	KCNN3	IFT52	TGFBR2	FGFR2	RAB3GAP2	IFT57	STAMBP	RPS6KA3	COMP	USP9X	ATP6V1B2	IFT43	RTL1	CHUK	IL1RAPL1	SMARCB1	PIGF	NFIX	SMARCA2	PTHLH	PHF6	TRPV4	DLG3	B3GAT3	PGAP3	MGP	KIF22	KDM5C	CTSC	ZBTB20	PIGB	MID2	SOST	PIGY	CCDC22	MACROH2A1	EDA	PGAP2	DOCK6	TWIST1	MEG3	HS2ST1	CHST11	FRMPD4	ARX	ALG13	RAB39B	RMRP	STEEP1	ALG6	ACTL6B	KIF7	MRPS28	BCR	AGTR2	PIGO	POC1A	KCNJ8	DVL1	EP300	PTCH1	SOX11	PPP2R3C	TRPS1	PIK3CD	BANF1	GGCX	FN1	UPF3B	DLL4	HOXA13	IARS1	MAP3K7	PTCHD1	DLK1	LEMD3	FLNB	USP27X	PCNT	ZNF81	WNT5A	PAK3	MECP2	EDA2R	ACP5	RNU4ATAC	CWC27	AMMECR1	HCFC1	GATAD2B
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	BMP2	BMPR1B	BHLHA9	GDF5	RUNX2	INTU	GMNN	FGFR3	KDM6A	TFAP2B	ROR2	IHH	COL2A1	COL10A1	DVL1	NFIX	FIG4	KMT2D	TRPS1	HOXA13	NOG	PIK3CD	CHSY1	PHF6	PTH1R	GJA1	KNSTRN	TRPV4	MEGF8	FGFR2	NPR3	EIF2AK3	NIN	VAC14	PUF60	NEPRO	MIR17HG	HOXD13	SLC26A2	PDE4D	BMP4	GNB2	IGF2	MYCN	FGF10	RAB23	GATA1	LMNA	PTDSS1	RBBP8	PCNT	KMT2A	WNT5A	IFT57	NONO	MECOM	FGFR1	PQBP1
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	BHLHA9	KIF22	CDKL5	COL10A1	BMPR1B	CREBBP	GDF5	FANCD2	FLNB	IHH	COL2A1	RAB23	FGFR3	MTOR	GNAS	EP300	NOG	TRPS1	CHSY1	LMBR1	NPR3	SHH	FIG4	TRIO	KIF15	VAC14
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	EOGT	CHUK	SUFU	GPC4	IL1RAPL1	SMARCB1	PIGF	VPS35L	CLCN4	IFT122	GDF5	GPC3	ABCC9	COL2A1	NFIX	MCTP2	FIG4	TBC1D24	PTHLH	ZNF41	ARSL	KCNH1	ROR2	PHF6	GDI1	FTSJ1	TRPV4	PIGW	DLG3	VAC14	PGAP3	CHST3	MGP	KDM5C	ZBTB20	PIGN	PIGB	SLC25A24	MID2	TBX3	RBPJ	PIGY	CCDC22	WDR19	EDA	PGAP2	DOCK6	IGF2	SALL4	GNAS	EVC2	NOG	PIGL	BMPR1B	CHST11	SLC9A7	FRMPD4	GLI1	ARX	NOTCH2	ALG13	RAB39B	CRKL	CNKSR2	STEEP1	FLNA	ALG6	PTCH2	ACTL6B	HOXD13	BCR	CRIPT	ARHGAP31	AGTR2	PIGO	POC1A	KCNJ8	IHH	COL10A1	DMD	MTX2	PTCH1	SOX11	ARHGEF6	PIGV	COG4	ARID1A	PIK3CD	SMARCA4	GGCX	ZMPSTE24	IQSEC2	IFT52	PIGS	KNSTRN	SMARCA2	ACSL4	FN1	DYNC2LI1	UPF3B	RPS6KA3	TRPS1	DLL4	SYP	HOXA13	SETBP1	CLCN7	POR	NOTCH1	MAP3K7	ZNF711	EVC	PTCHD1	TSPAN7	WDR35	JAG1	FLNB	SMARCE1	USP27X	ARID1B	MAPK1	MTOR	NXN	MED12	PCNT	KCNN3	ZNF81	TGFBR2	LMNA	IFT57	PAK3	MECP2	STAMBP	EDA2R	COMP	USP9X	DVL1	ACP5	CWC27	HCFC1	ATP6V1B2	IFT43
HP_BROAD_DISTAL_PHALANX_OF_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_DISTAL_PHALANX_OF_FINGER	RTL1	IFT122	KIF22	SETD5	GPC4	FLNA	CREBBP	DLK1	WDR19	FLNB	MEG3	GNAS	EP300	SMARCA2	B3GALT6	HS2ST1	FGFR2	HOXD13	RNU4ATAC	AMMECR1	B3GAT3	GATAD2B	CHST3
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	LMNA	CTSK	BANF1	MTX2
HP_SYMPHALANGISM_OF_MIDDLE_PHALANX_OF_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYMPHALANGISM_OF_MIDDLE_PHALANX_OF_FINGER	NOG	GDF5	BHLHA9	PQBP1	TFAP2B	NONO
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	GDF5	FANCD2	LMBR1	IHH	SHH	FIG4	COL2A1	FGFR3	MTOR	TRIO	KIF15	VAC14
HP_SIMPLIFIED_GYRAL_PATTERN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SIMPLIFIED_GYRAL_PATTERN	CIT	CLP1	YRDC	KATNB1	DONSON	DYNC1I2	DCHS1	SOX4	GMNN	ASPM	GFM2	RTTN	SMARCB1	ARID2	SPOP	PLK4	SMARCC2	CDK5RAP2	XRCC4	VLDLR	KIF11	C2CD3	TSEN2	LMNB1	ARID1A	OSGEP	TUBB3	MED27	DPF2	TUBB2A	NDE1	TUBGCP6	PNKP	KIF14	IER3IP1	SOX11	COPB2	CSNK2A1	TMEM222	FOXG1	CENPE	SMPD4	PSAT1	SMARCE1	PPIL1	CASK	ARID1B	ANKLE2	CDC40	SMARCD1	ERCC1	WDR62	SMARCA4	AHDC1	SON	PRKDC	LMNB2	CDK6	CUL4B	EXOC7	MPDZ	ASNS	STIL	TRAIP	CEP152	ZNF335	QARS1
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	CANT1	BMPR1B	PPP2R3C	PAH	WNT5A	FGFR2	ROR2	LMBR1	LEMD3	TWIST1	DVL1	KIF7	GDF5
HP_TAPERED_DISTAL_PHALANGES_OF_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TAPERED_DISTAL_PHALANGES_OF_FINGER	CTSC	DSP	UNC80	NALCN	SPTBN1
HP_TRICHORRHEXIS_NODOSA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRICHORRHEXIS_NODOSA	TTC37	HEPHL1	GJA1	SPINK5	MPLKIP	ASL	KRT25	SKIV2L	CLCN6	ERCC2
HP_ABNORMALITY_OF_HAIR_PIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_HAIR_PIGMENTATION	SNAI2	UBE3A	SOX10	MOGS	TERC	DCT	MYO5A	DKC1	POMC	RTEL1	SLC45A2	TYR	MLXIPL	TYRP1	SKIV2L	NDN	KANSL1	SNRPN	TINF2	PARN	ABCA2	MITF	TERT	PRKAR1A	TFAP2A	PSMB8	KRT74	PAX3	UROC1	INSR	RAB27A	ZNF469	STN1	CTC1	PADI3	BRCC3	WRN	SALL4	LPAR6	EDNRB	ATP7A	PAH	HPS6	ZNF699	AP3D1	FGFR3	MLPH	GJB6	TGM3	NPM1	RMRP	LIPH	HPS1	CACNA1F	LYST	PTPN22	MKRN3	ATP10A	HPS5	SLC17A5	TTC37	BLOC1S3	MAGEL2	OCA2	PCSK1	UBR1	ACD	PIGN	NPAP1	EDN3	NHP2	TMCO1	PWAR1	MAFB	CHN1	DHCR7	MC1R	FAS	TP63	USB1	BLOC1S5	LAMTOR2	RECQL4	HPS4	KIT	KITLG	SIM1	ELN	LMNA	ATM	PDE4D	AP3B1	LRPPRC	ERCC8	DSTYK	DTNBP1	KRT25	NOP10	HERC2	FDFT1	LRMDA	KRT71	PWRN1	SNORD115-1	PEPD	CTNS	ERCC6	WRAP53	EPG5	PRDM5	MDM2	SNORD116-1	MTAP	HPS3	GNPTAB
HP_ABNORMALITY_OF_SECONDARY_SEXUAL_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SECONDARY_SEXUAL_HAIR	LHB	DUSP6	TBX3	CYP17A1	AR	FEZF1	DSC3	GNRH1	BMP15	GLI2	GNRHR	DMRT3	APOE	BNC1	VAMP7	MAP3K1	SPIDR	AXL	FOXL2	PROP1	ZFPM2	GJB6	NR0B1	TP63	SNRPE	GATA4	CCBE1	SOX9	PPP2R3C	SOX3	POLR3H	FAT4	LHX4	FSHB	ANOS1	NR5A1	PSMB8	OTX2	HLA-DRA	ADAMTS3	FGF17	COL17A1	ZBTB20	PSMC3IP	APCDD1	CYB5A	DHX37	NUP107	POU1F1	SEMA3E	MDM2	ORC6	WDR11	FSHR	EPS8L3	SPRY4	FOXA2	WT1	WWOX	SRA1	MRPS22	LPAR6	SRY	CCDC141	AXIN2	HESX1	ITGB4
HP_LOCALIZED_HIRSUTISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOCALIZED_HIRSUTISM	PPP1R21	RTL1	PEPD	CPOX	RPL10	TBX15	AFF4	CKAP2L	DLK1	MEG3	ARID1B	WNT4	FLNA	TASP1
HP_HIGH_ANTERIOR_HAIRLINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_ANTERIOR_HAIRLINE	RERE	ANKRD17	PIGG	SPEN	FGD1	GDF11	ADNP	RALGAPA1	TBL1XR1	ALX1	ATP6V1B2	EFNB1	CPLX1	NOVA2	CCNK	SPECC1L	PPP1CB	SLC35C1	CLCN3	SIN3A	SYT1	SOS1	KDM1A	NELFA	MID1	WNT4	ZC4H2	PEX6	NEPRO	LRP2	SETD2	BICRA	LMX1B	LETM1	CDH1	SATB1	NSD1	UGP2	GNB2	TWIST1	HYOU1	DLX4	KCNH1	IFIH1	ALX3	PEX1	MEIS2	STAG2	NSD2	THOC6	HS2ST1	CTBP1	SLC9A7	CWC27	PIGK	ADARB1
HP_UNDERDEVELOPED_SUPRAORBITAL_RIDGES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNDERDEVELOPED_SUPRAORBITAL_RIDGES	SLC25A24	PEX1	PEX14	GDF1	TCF12	CITED2	PIK3CD	JAG1	SPOP	BRAF	PEX11B	ESCO2	NKX2-5	SOX11	MAP2K1	PEX2	NKX2-6	PEX3	FGFR3	PEX6	MYOD1	TRAPPC9	PEX19	KNSTRN	PEX10	PEX13	MAP2K2	TWIST1	LIG4	KIF11	ANTXR1	PEX5	GJA5	PEX12	PEX26	RBM10	TTC37	GATA4	FGFR2	NSUN2	GATA6	HBA2	LZTR1	ZIC1	RAB23	NEU1	PPP1R21	KRAS	KDR	GATA5	TBX1	FLT4	MASP1	GHR	PRMT7	PEX16	HBA1	ZFPM2
HP_ANOTIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANOTIA	ORC1	FANCB	GMNN	CDC45	CDT1	CHUK	ORC6	ORC4	CDC6	POLR1A	HOXA2
HP_THICKENED_EARS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICKENED_EARS	ALMS1	ABCC8	KCNJ11	KCNH1	KCNN3	PTCH1	TAF1	AFF4	ATP6V1B2
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	HS2ST1	FGFR2	TWIST1	TCTN3	FGFR3	EDN1	PLCB4	ZNF462	STEEP1
HP_ABNORMAL_ANTITRAGUS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ANTITRAGUS_MORPHOLOGY	FN1	COL2A1	PNPLA6	RAB3GAP2	KCTD1	PIGK	KAT6A	B3GAT3	CHST3
HP_PROMINENT_CRUS_OF_HELIX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_CRUS_OF_HELIX	HS2ST1	FGFR2	TWIST1	FGFR3	STEEP1
HP_PROMINENT_EAR_HELIX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_EAR_HELIX	ZMPSTE24	LMNA	ACBD5	AFF2	DOCK7	ZMIZ1
HP_APLASIA_HYPOPLASIA_OF_THE_EARLOBES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_EARLOBES	CENPJ	FLI1	COMT	B4GALT7	HIRA	ATR	EP300	ESCO2	NUP85	FIG4	TBX1	KCTD1	CEP152	FN1	FGFR2	AHDC1	SLC35C1	ATRIP	POLR3A	ZMYM2	COL2A1	TRAIP	CREBBP	RBM10	ZNF407	SMS	CHD7	HBA2	COL3A1	HMX1	EBF3	PTPRF	SEMA3E	VPS13B	ARVCF	SEC24C	ABHD5	RREB1	GP1BB	KAT6A	UFD1	PLK4	CDC6	RBBP8	CENPE	HBA1	PCNT	JMJD1C
HP_ANTERIOR_CREASES_OF_EARLOBE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_CREASES_OF_EARLOBE	GPC4	PRR12	BRAF	TBX1	GPC3
HP_UPLIFTED_EARLOBE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPLIFTED_EARLOBE	KMT2C	PIGB	SMARCD1	ZEB2	TBL1XR1	BMP4	EHMT1	IL1RAPL1	AHDC1	GRIA3	PIGQ
HP_ABNORMAL_TEMPORAL_BONE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TEMPORAL_BONE_MORPHOLOGY	GDF3	GDF6	POR	CEP57	FGFR3
HP_ABNORMAL_TRAGUS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TRAGUS_MORPHOLOGY	DACT1	KCTD1	SALL1	EFTUD2	RNU4ATAC	NUP188	GLI2	PIGN	KAT6A	SMCHD1
HP_APLASIA_HYPOPLASIA_OF_THE_TRAGUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_TRAGUS	KCTD1	EFTUD2	NUP188	GLI2	KAT6A	SMCHD1
HP_CYCLOPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CYCLOPIA	DLL1	GLI2	GAS1	PTCH1	TDGF1	NODAL	FGF8	SHH	FOXH1	STIL	ZIC2	SIX3	SMC1A	TGIF1	STAG2	FGFR1	CDON	DISP1	SUFU	OTX2	PRRX1
HP_ANISOCORIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANISOCORIA	DDX6	SH3TC2	PMP22	LOXL1	GMPPA	AAAS	TMEM67	SIN3A
HP_PERSISTENT_PUPILLARY_MEMBRANE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERSISTENT_PUPILLARY_MEMBRANE	CPAMD8	FZD4	NDP	ADAMTSL4	ATOH7	POMT2	GJA1
HP_ECTOPIA_PUPILLAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTOPIA_PUPILLAE	CPAMD8	PAX6	OVOL2	FBN1	MAB21L2	VSX1	FOXC1	ZEB2	CPLX1	FGFRL1	COL4A1	RHOA	ADAMTSL4	ZEB1	WT1	LETM1	TBX2	CTBP1	NSD2	GRHL2	PCYT1A	COL8A2
HP_APLASIA_HYPOPLASIA_INVOLVING_THE_NOSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_INVOLVING_THE_NOSE	MYH3	OFD1	MVK	ALX1	ALX4	ATP6V1B2	KCNJ6	RIPK4	TWIST2	KANSL1	ESCO2	DYRK1A	NSUN2	CKAP2L	RSPO2	DDR2	FLNB	PRPS1	PAX3	LMBR1	ANKRD11	EXT2	SIX3	MITF	DGCR6	USH1G	HNRNPK	HDAC4	PRKAR1A	FRAS1	UBR1	CREBBP	BICRA	ZMPSTE24	SCARF2	TWIST1	OTX2	SPATA5	PIK3R1	DGCR2	NOG	CLP1	NEXMIF	TRPS1	EDNRB	EDEM3	MADD	MYO18B	CRKL	PHF21A	UBE2A	PDE4D	TAF6	GHR	DDB1	CTNNB1	SIN3A	PCNT	RNU4ATAC	PLEC	PRRX1	FGF3	BCR	TP63	MGP	EDA	GMNN	MTX2	HNRNPH2	NAA10	RECQL4	LMNA	FREM2	SOX10	PPP1CB	NALCN	SOX11	PPP2R3C	GJA1	SMARCA2	ASXL3	ALG9	TXNL4A	RDH11	TBX1	TONSL	SLC37A4	MAPK1	DGCR8	EIF5A	PURA	GRIP1	ORC4	PTCH1	CENPJ	SMCHD1	STAG2	WNT3	NFIX	TRIO	TGIF1	ESS2	CWC27	EDN3
HP_EPIPHORA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIPHORA	KRT12	COL17A1	OVOL2	NDP	NLRP3	SDHD	SLC39A14	ATOH7	NOP10	SEMA4A	FGF10	TINF2	KRT3	FGFR3	NHP2	FZD4	DKC1	HLA-DRB1	LRP1	SREBF1	IGSF3	FGFR2
HP_THICK_NASAL_ALAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICK_NASAL_ALAE	ABCA5	ANKRD17	EXT1	SOX11	SOX4	MED12	SMARCE1	RHOA	SMARCB1	ARID2	ARID1B	SMARCD1	SMARCC2	KANSL1	CCNK	KCNH1	SMARCA4	SMARCA2	SYNGAP1	SLC6A1	ARSL	TRPS1	SLC2A1	CHD2	ARID1A	RPS6KA3	SCN1A	DPF2	NF1	PIK3C2A	PTEN	AKT1	NEXMIF	ZSWIM6	ANTXR1	ABCC9	AP2M1
HP_ABNORMALITY_OF_THE_COLUMELLA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_COLUMELLA	NALCN	RAC1	AFF3	FLI1	DNMT3A	ZEB2	HNRNPH2	NAA10	KDM6A	MGAT2	POC1A	AIMP2	CKAP2L	EP300	SOX11	KMT2D	ATP6V1E1	TBCD	ACTB	CTCF	CLCN3	ARSL	KCTD1	GJA1	ALX4	RYR1	ASXL3	ATN1	HDAC4	PIK3C2A	ACTG1	ZMIZ1	RDH11	CREBBP	BICRA	CDH11	KDM3B	B3GLCT	CENPF	TSPEAR	TWIST1	SRCAP	ZSWIM6	ZNF148	SHH	PPP1R21	NOG	ALG9	THOC6	ITCH	KAT6A	LMBR1	EDEM3	MADD	ALX3	UBE2A	CAPN15	PQBP1	TRIO	ERF	CWC27	EXOSC2	CTNNB1
HP_SINGLE_NARIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SINGLE_NARIS	DLL1	GLI2	PTCH1	TDGF1	NODAL	GAS1	SHH	FOXH1	SMCHD1	STIL	ZIC2	SIX3	SMC1A	TGIF1	STAG2	FGFR1	CDON	DISP1	FGF8	WNT3	CSPP1
HP_APLASIA_HYPOPLASIA_OF_THE_NASAL_SEPTUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_NASAL_SEPTUM	FLNB	TGIF1	PTCH1	NOG	SIX3
HP_SUNKEN_CHEEKS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUNKEN_CHEEKS	AEBP1	TUBB4A	LRP1	PSMC3	NGLY1
HP_MANDIBULAR_APLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MANDIBULAR_APLASIA	NDUFB11	ORC1	PRRX1	GMNN	COX7B	CDT1	CHUK	ORC4	CDC6	FAM20C	CDC45	OTX2	ORC6	HCCS
HP_DUPLICATION_OF_THUMB_PHALANX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUPLICATION_OF_THUMB_PHALANX	CANT1	INTU	RPL15	FANCC	RPS24	GATA1	ESCO2	RPS20	FGFR2	ADA2	PPP2R3C	SALL1	NUP107	SMO	ACTB	RPS19	CHSY1	RPL27	FGF10	NAA10	GLI1	ACTG1	RPL35A	RPS10	RPL18	RPS17	RPS7	UBE2T	GDF5	RPS26	RPL31	PAH	RPS28	SHMT2	FGFR3	GLI3	FANCD2	LMBR1	RPS15A	DACT1	RPL35	RPS29	TBX5	RAB23	TSR2	RPL11	BMPR1B	RPL5	BCOR	RPL26	RPS27	FANCE	FANCA	KIF7
HP_COMPLETE_DUPLICATION_OF_PHALANX_OF_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMPLETE_DUPLICATION_OF_PHALANX_OF_HAND	BMPR1B	CHSY1	SHMT2	FANCC	BCOR	NAA10	FANCD2	LMBR1	LEMD3	ESCO2	FANCE	FANCA	RAB23	GDF5
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	CANT1	RPL31	PAH	INTU	RPL15	RPS28	RPS24	FGFR3	GATA1	FANCD2	RPS15A	DACT1	RPL35	RPS29	TBX5	TWIST1	FGF10	RPS20	RPS19	TSR2	ADA2	RPL11	PPP2R3C	SALL1	NUP107	RPL5	CHSY1	RPL27	FGFR2	GLI1	RPL26	DVL1	RPS27	RPL35A	RPS10	RPL18	RPS17	RPS7	KIF7	RPS26
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	CANT1	PPP2R3C	PAH	TWIST1	FGFR2	KIF7
HP_ABNORMALITY_OF_THE_1ST_METACARPAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_1ST_METACARPAL	CANT1	RTL1	NONO	SETBP1	BRD4	HDAC8	GDF5	FZD2	VPS35L	RAD21	DLK1	FANCD2	SALL4	FANCI	IHH	NOG	MEG3	NIPBL	GNAS	BMPR1B	HOXA13	PCNT	LMBR1	PQBP1	NPR3	ACVR1	SHH	SMC1A	FIG4	TRIO	SMC3	VAC14
HP_ABNORMALITY_OF_THE_2ND_METACARPAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_2ND_METACARPAL	BMP2	BMPR1B	SALL1	GDF5	RUNX2	GLI3
HP_ABNORMALITY_OF_THE_4TH_METACARPAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_4TH_METACARPAL	SMOC1	SHOX	FERMT1	PRKG2	SUFU	HOXD13	FLNA	SRY	DCHS1	FBXL3	PIGS	FGF16	LBR	FAT4	PTCH2	GLI3	GNAS	SVBP	PTCH1
HP_ABNORMALITY_OF_THE_5TH_METACARPAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_5TH_METACARPAL	KIAA0586	SMOC1	FBN1	FERMT1	NOG	PRKG2	HOXD13	FLNA	FGF16	LBR	GNAS	SVBP	CSPP1	RUNX2	LTBP3	BMP2
HP_APLASIA_HYPOPLASIA_OF_THE_1ST_METACARPAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_1ST_METACARPAL	CANT1	RTL1	SETBP1	BRD4	HDAC8	GDF5	FZD2	VPS35L	RAD21	DLK1	FANCD2	SALL4	FANCI	NOG	MEG3	NIPBL	BMPR1B	HOXA13	PCNT	LMBR1	ACVR1	SHH	SMC1A	FIG4	TRIO	SMC3	VAC14
HP_SHORT_1ST_METACARPAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_1ST_METACARPAL	CANT1	RTL1	SETBP1	BRD4	HDAC8	GDF5	FZD2	VPS35L	RAD21	DLK1	SALL4	FANCI	NOG	MEG3	NIPBL	HOXA13	PCNT	ACVR1	SMC1A	SMC3
HP_APLASIA_HYPOPLASIA_OF_THE_2ND_METACARPAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_2ND_METACARPAL	BMP2	BMPR1B	GDF5	RUNX2	GLI3
HP_APLASIA_HYPOPLASIA_OF_THE_4TH_METACARPAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_4TH_METACARPAL	SHOX	FERMT1	PRKG2	SUFU	FLNA	SRY	DCHS1	FBXL3	PIGS	LBR	FAT4	PTCH2	GLI3	GNAS	SVBP	PTCH1
HP_APLASIA_HYPOPLASIA_OF_THE_5TH_METACARPAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_5TH_METACARPAL	FERMT1	NOG	PRKG2	HOXD13	GNAS	FLNA	SVBP	RUNX2	LBR	BMP2
HP_APLASIA_OF_METACARPAL_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_METACARPAL_BONES	FANCD2	LMBR1	SHH	FIG4	GLI3	TRIO	VAC14	SALL4	RECQL4
HP_DEVIATION_OF_THE_HALLUX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVIATION_OF_THE_HALLUX	FGF9	MLXIPL	NTNG2	SRCAP	SRY	ZMIZ1	B3GALT6	FGFR2	TP63	TRMT1	GBA	SATB1	DYRK1A	KDM4B	ELN	TMEM270	GTF2I	NCF1	SLC12A2	PSMD12	MED13	RFC2	C2CD3	DOCK3	LIMK1	YY1	MED27	EIF4H	CLCN3	HTT	UBR7	KMT2E	PSMB8	B3GAT3	TCF12	FKBP6	STX1A	GRIA4	SCARF2	HPDL	TWIST1	FGFR3	BAZ1B	SLC29A3	ACTL6B	RBBP8	CHST11	BMPR1B	TNRC6B	USP7	COL1A2	CREBBP	USP9X	BUD23	KAT6A	MYT1L	ERMARD	EMC10	NONO	ZNF469	LMBRD2	DPYSL5	DNAJC30	ERF	TCF7L2	TANC2	CHST3	PUS7	PTPN23	GDF5	ATL3	CDKL5	TRIP12	GTF2IRD2	KCNH1	SVBP	DDX6	SYNCRIP	BCAS3	AEBP1	VPS37D	SLC16A2	FGFR1	FHL1	MADD	MAPK8IP3	KCNMA1	EP300	PALS1	ZEB2	BCL7B	AGO2	HOXA13	NUP107	MYH3	FBXW11	WDFY3	RNF2	WASF1	ACTL6A	PTEN	IL11RA	KCNN3	BMP2	BPTF	NTNG1	TCF20	HOXD13	SPTBN1	SF3B4	CNOT3	HUWE1	PRDM5	BCORL1	RLIM	METTL27	KAT8	TBL2	CLIP2	ACVR1	SETD1A	ITCH	TRAPPC4	GTF2IRD1	ATP6V1B2	CCDC32	AKT1	JARID2	HS2ST1	ANKRD17	CWC27
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	CANT1	HOXD13	PTHLH	TBR1	FIG4	VAC14
HP_ABNORMALITY_OF_THE_FIRST_METATARSAL_BONE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_FIRST_METATARSAL_BONE	CANT1	TTC26	HOXA13	ABCC9	ACVR1	FGFR2	VPS35L	TWIST1	NEK1	FIG4	VAC14
HP_ABNORMAL_HALLUX_PHALANX_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HALLUX_PHALANX_MORPHOLOGY	CANT1	FGFR2	IFT122	BHLHA9	HOXD13	FLI1	EP300	GPC4	SATB2	LMBR1	GLI3	EFNB1	TWIST1	DACT1	KCNJ8	FGFR1	SALL4	ABCC9	RAB23	NXN	BMP2	HYLS1	IHH	PTHLH	CTCF	ACVR1	ACTB	ROR2	C2CD3	CREBBP	TBR1	SALL1	NEK1	FIG4	SUMF1	GATA4	KIF7	VAC14
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	IHH	HOXD13	PTHLH	ACVR1	FIG4	VAC14
HP_BROAD_HALLUX_PHALANX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_HALLUX_PHALANX	BMP2	FGFR2	GLI3	CTCF	FLI1	GPC4	ROR2	SATB2	HOXD13	EFNB1	DACT1	KCNJ8	FGFR1	SALL1	SALL4	ABCC9	SUMF1	GATA4	NXN
HP_DUPLICATION_OF_PHALANX_OF_HALLUX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUPLICATION_OF_PHALANX_OF_HALLUX	CANT1	LMBR1	HYLS1	TWIST1	EP300	NEK1	ACTB	RAB23	C2CD3	CREBBP	KIF7
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	CANT1	FANCM	LMNA	COL12A1	GPC4	TRIM8	PIGF	FGFR2	FGFR3	SCN9A	SOX9	NEUROD2	RAD51	HPGD	ABCC9	SMARCA2	WNK1	RIPK4	FANCC	SCN2A	TBC1D24	BRIP1	PTHLH	CTCF	ARSL	KCNH1	ROR2	C2CD3	TRPV4	SUMF1	ZMPSTE24	FANCF	VAC14	ERCC4	SLX4	FANCD2	BMPR1B	SATB2	PIGL	LMBR1	WDR19	CDKL5	PTEN	SALL4	RAB23	RETREG1	BMP2	HOXD13	GLI3	HS2ST1	NOTCH2	SIK1	COL6A2	UBE2A	FANCL	COL6A3	RAD51C	FANCE	NEK1	GRM7	GNAO1	GATA4	KIF7	PNKP	IFT122	DMXL2	BHLHA9	BMPR1A	FLI1	CASK	PALB2	SCN1B	EFNB1	TWIST1	KCNJ8	FGFR1	UBE2T	PIGQ	MAD2L2	MTX2	FANCA	HYLS1	NOG	KIF1A	FANCG	WNT7A	TBR1	SALL1	ARX	EP300	KCNA1	MED25	RFWD3	COL6A1	DACT1	COL3A1	RHBDF2	ARID1B	NXN	BRCA2	XRCC2	IHH	TP63	SLCO2A1	PIGP	KCNN3	ACVR1	ACTB	CREBBP	SLC25A22	FANCB	TLL1	BRCA1	FANCI	FIG4	GDF5	ATP6V1B2
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	LMNA	HOXD13	GPC4	BMPR1B	PIGF	PIGL	TRPV4	ARID1B	RAB23	RIPK4	IHH	NOG	TBC1D24	TP63	PTHLH	ARSL	KCNN3	ACVR1	KCNH1	WNT7A	FIG4	GDF5	ATP6V1B2	ROR2	VAC14
HP_BROAD_PHALANX_OF_THE_TOES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_PHALANX_OF_THE_TOES	PNKP	FGFR2	DMXL2	BMPR1A	FLI1	GPC4	TRIM8	KCNA1	MED25	SATB2	NEUROD2	CASK	WDR19	GLI3	CDKL5	SCN1B	EFNB1	PTEN	DACT1	KCNJ8	FGFR1	SALL4	ABCC9	PIGQ	NXN	BMP2	SCN2A	HS2ST1	CTCF	PIGP	SIK1	ROR2	HOXD13	SLC25A22	SALL1	GRM7	GNAO1	SUMF1	GATA4	ARX
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	CANT1	HOXD13	GPC4	MED25	PIGF	TRPV4	ARID1B	MTX2	RIPK4	LMNA	HS2ST1	PTHLH	ARSL	KCNN3	KCNH1	NOG	ZMPSTE24	TBR1	FIG4	ROR2	VAC14
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	TRPV4	HOXD13	FGFR1	IHH	NOG	FGFR2	FIG4	RAB23	FGFR3	VAC14
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	RIPK4	HOXD13	PTHLH	GPC4	ARSL	KCNN3	KCNH1	NOG	PIGF	TRPV4	ARID1B	FIG4	ROR2	VAC14
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	IHH	NOG	FIG4	RAB23	VAC14
HP_CONE_SHAPED_EPIPHYSES_OF_THE_PHALANGES_OF_THE_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONE_SHAPED_EPIPHYSES_OF_THE_PHALANGES_OF_THE_HAND	EVC	BGN	IFT140	EXT1	RUNX2	GPX4	GDF5	FGFR3	SRCAP	ATR	IHH	COL2A1	COG4	TRPS1	NPR2	IFT172	IFT52	EVC2	DYM	FLNA	EIF2AK3	NEK1	RMRP	TRIP11	KIF15	PRKAR1A	MIA3	MRPS28
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	ERCC6	TRPS1	ERCC8	EIF2AK3	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	BMPR1B	NPR3	KCNH1	RAB23	GDF5
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	FIG4	LMNA	MEGF8	FGFR2	GJA1	FGF10	FGFR3
HP_SHORT_PROXIMAL_PHALANX_OF_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_PROXIMAL_PHALANX_OF_FINGER	BMPR1B	IHH	GDF5	COL2A1	FGFR3	MTOR	KIF15
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	FANCD2	LMBR1	BMPR1B	SHH	FIG4	TRIO	VAC14
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	BMPR1B	TRPS1	ARSL	GDF5	MRPS28
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	NPR3	IHH	RAB23	GDF5
HP_STOMATITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STOMATITIS	FASLG	HLA-B	IL12A-AS1	IL12A	MVK	HLA-DQA1	NUMA1	FAS	BCOR	IFNGR1	MEFV	ITK	GFI1	PRKAR1A	IL6	NLRP3	DCLRE1C	STAT3	NLRP12	PRKCD	C4A	RARA	LMBRD1	TLR4	KYNU	RASGRP1	IL10	ELANE	TBL1XR1	IRF9	SRP54	MMACHC	RHOH	IL1RN	KLRC4	HLA-DQB1	PML	IRF2BP2	NOD2	ZAP70	CCR1	ERAP1	STAT5B	NPM1	FIP1L1	WDR1	HYOU1	CD40LG	ORAI1	IL23R	CASP10	NABP1	PRKDC	RNF125	STAT4	UBAC2	ZBTB16	TCIRG1	CARMIL2	NCF4	IL17RC
HP_THIN_LOWER_LIP_VERMILION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIN_LOWER_LIP_VERMILION	THOC6	HS2ST1	PIK3CD	PIGN	KNSTRN
HP_ABNORMAL_SALIVARY_GLAND_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SALIVARY_GLAND_MORPHOLOGY	CXCR4	B2M	MLH1	FGF10	ATP2A2	BTNL2	FGFR3	HLA-DRB1	MSH2	MSH6	TP63	OGDH	FGFR2	NOD2	PSMB8	IRF6	GRHL3	PLAG1	TCOF1
HP_APLASIA_HYPOPLASIA_OF_THE_UVULA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_UVULA	ERCC4	FANCM	SLX4	PRR12	FANCD2	ROR2	RFWD3	RAD51	PALB2	UBE2T	MAD2L2	BRCA2	XRCC2	FANCA	FANCC	BRIP1	NXN	FANCG	WDR35	SPTBN1	FANCB	FANCL	RAD51C	BRCA1	FANCE	FANCI	FANCF
HP_PALATE_FISTULA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALATE_FISTULA	BMP4	ARHGAP29	DLG1	DLX4	IRF6	TP63	NECTIN1	MSX1	CDH1
HP_APLASIA_HYPOPLASIA_OF_THE_TONGUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_TONGUE	B9D2	PRRX1	LMNB2	MYMK	DHCR7	CC2D2A	BMP4	B9D1	CSPP1	CEP290	TMEM237	RPGRIP1	GLI3	OTX2	TMEM216	TCTN3	NEK1	VPS13B	PLXND1	SMO	PTDSS1	EDN1	TMEM107	TBX15	TCTN2	GNAI3	TXNDC15	REV3L	TRIM37	TCTN1	ECM1	TMEM67	RBBP8	TMEM231	RPGRIP1L	PLCB4	MKS1
HP_ANKYLOGLOSSIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANKYLOGLOSSIA	PRR12	AFF3	COL7A1	BCR	ROR2	RSPO2	TBX22	FAM111A	SPTBN1	TELO2	POU4F1	CRKL	ZMPSTE24	LMNA	SLC37A4	MMP1	MAPK1	NXN	MID1
HP_BIFID_TONGUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIFID_TONGUE	DVL3	FZD2	DHCR7	DDX59	OFD1	DYNC2H1	ROR2	FREM2	WNT5A	ALX3	DVL1	IFT80	NXN	MCTP2	HNRNPK	CEP120	C2CD3	GRIP1	RIPK4	DYNC2I2	FRAS1	NEK1	IPO8	WDR35	DYNC2I1
HP_ABNORMAL_DENTIN_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DENTIN_MORPHOLOGY	PHEX	DSPP	SMOC2	PPIB	CDH11	B3GALT6	COL1A2	IFITM5	SEC24D	TRIP11	COL1A1	FKBP10	ZNF469	SERPINH1	MIA3
HP_ABNORMALLY_LOW_PITCHED_VOICE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALLY_LOW_PITCHED_VOICE	EZH2	TRPS1	SUZ12	BRD4	HDAC8	EED	GRIN2A	RAD21	NSD1	SRPX2	SMC1A	NIPBL	SMC3
HP_SPINAL_DYSRAPHISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPINAL_DYSRAPHISM	MYH3	RTL1	FANCM	MLXIPL	SUFU	COMT	SUPT16H	COLEC10	ZIC1	FLNB	POMT1	TMEM216	RAD51	KANSL1	INPP5E	POMT2	GMPPB	ELN	FUZ	BRAF	KIAA0586	TMEM270	GTF2I	FANCC	TBX1	TBC1D24	BRIP1	NCF1	KCNH1	RFC2	MTHFD1	DACT1	PAX3	LIMK1	H19	B3GALNT2	EIF4H	FRAS1	RUNX2	ZSWIM6	LIG4	AMER1	FANCF	ERCC4	PUF60	SLX4	RIPPLY2	FANCD2	KIF22	ACTB	FKBP6	STX1A	OFD1	ITGB4	FIBP	VANGL1	PTPN11	COLEC11	HMX1	FKRP	BAZ1B	MEG3	GDF3	HES7	RAB23	GDF6	BMS1	DLL4	MESP2	ARVCF	FANCB	TNXB	SALL4	BUD23	UFD1	NEK9	FANCL	CCBE1	RMRP	RAD51C	FANCE	TBX6	DNAJC30	PTCH2	BMPER	SC5D	JMJD1C	DLL3	PHGDH	FLI1	GTF2IRD2	GJA1	DARS1	NOTCH3	SLC25A19	HIRA	RECQL4	PALB2	IRF6	VPS37D	MEOX1	FREM2	UBE2T	MAD2L2	CEP290	PLEC	PTCH1	BMP2	FANCA	BCL7B	LMX1B	CCNQ	LARGE1	VANGL2	CCL2	FANCG	IKBKG	MASP1	WNT7A	SIN3A	LFNG	RORA	TRIM36	MTR	POMGNT1	HAAO	FLNA	CUL7	CHRNG	EP300	ALX4	B3GLCT	MTHFR	MAP3K7	PIK3CA	POLA1	DLK1	NSUN2	TBXT	RFWD3	RAF1	NF1	CSPP1	ARID1B	BRCA2	MSX2	XRCC2	WBP11	PORCN	SEC24C	RREB1	METTL27	GRIP1	TBL2	CLIP2	KCNQ1OT1	CREBBP	GP1BB	NOTCH2NLC	GTF2IRD1	FKTN	SNRPB	RBM8A	BRCA1	MAFB	FANCI	CHN1	IGF2	GLI3	MTRR	ATP6V1B2
HP_SPINAL_CORD_TUMOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPINAL_CORD_TUMOR	ZFTA	NF2	CCND1	FLI1	CREBBP	SMARCB1	LZTR1	VHL	RELA	NF1
HP_ABNORMAL_SPINAL_MENINGEAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SPINAL_MENINGEAL_MORPHOLOGY	MYLK	TGFBR1	LOX	ACTA2	NOTCH3	SMAD3	MAT2A	TGFB3	SMAD4	KANSL1	MFAP5	ELN	HEY2	FOXC2	SMAD2	RASA1	TGFBR2	MYH11	FBN1	TGFB2	FOXE3	PRKG1	NF1
HP_ABSENCE_OF_THE_SACRUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENCE_OF_THE_SACRUM	NODAL	TBXT	ZIC3	FANCB	VANGL2	CCL2	VANGL1	HAAO	PTH1R	FUZ
HP_SHORT_THORAX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_THORAX	ACAN	DYNC2LI1	CUL7	CCDC8	DYNC2I1	TTC21B	SLC10A7	HES7	IHH	FGFR3	LFNG	IFT172	IFT140	DYNC2I2	CEP120	PTH1R	RIPPLY2	COL2A1	FREM2	EVC	IFT80	DYNC2H1	TRPV4	OBSL1	ORC6	MESP2	EVC2	WDR19	SLC2A1	GLI1	NEU1	IFT52	NADSYN1	TRIP11	SLC26A2	RMRP	TBX6	FLNA	DYM	BMPER	WDR35	DLL3
HP_STRIDOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STRIDOR	SLC52A3	FUZ	TSPYL1	TRPV4	PAX8	SLC25A1	SYT2	MYO9A	MAP3K7	AGRN	SLC5A7	MIR140	IGHMBP2	SCARF2	COQ2	CHAT	SCN4A	GTPBP3	LAMC2	SLC18A3	VAMP1	SNAP25	SLC18A2	CTSK	COL13A1	FLNA	LAMA3	PLP1	LAMB3	KIF22	JAG1	VPS33A	SERPING1	GNPTAB	D2HGDH	MID1
HP_CHYLOTHORAX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHYLOTHORAX	MAP2K1	CCBE1	TSC2	FAT4	RASA1	BTNL2	EPHB4	HLA-DRB1	TSC1	PIEZO1	BRAF	PTPN11	ALG14	KIF11	ADAMTS3	CBL
HP_APLASIA_HYPOPLASIA_OF_THE_BREASTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_BREASTS	IKBKG	MAF	ORC1	GNRHR	TBX3	TWIST2	PROK2	TP63	BMP15	GLI2	TACR3	KISS1R	ORC4	CDC6	CDT1	BNC1	SPIDR	FGF17	PROP1	POC1A	DCC	SEMA3A	DYRK1A	MTX2	USP9X	HS6ST1	GMNN	SOX3	POLR3H	KCTD1	CHD7	LHX4	SPRY4	YY1	HESX1	FSHB	PROKR2	OTX2	NIN	KISS1	ACTB	TAC3	IL17RD	DUSP6	NSMF	PSMC3IP	FLRT3	FGFR1	NDNF	NUP107	POU1F1	ANOS1	FEZF1	EFNB1	ANTXR1	ORC6	ESR1	FGF8	PLXND1	FSHR	CCDC141	WDR11	FOXA2	NR5A1	SOX10	LMNA	MRPS22	GNRH1	REV3L	CDC45
HP_PREMATURE_THELARCHE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_THELARCHE	KDM6A	EIF5A	KMT2D	TANGO2	EP300	MMP2	MMP14	DYRK1A	CREBBP	MKRN3	CYP11B1
HP_EBSTEIN_ANOMALY_OF_THE_TRICUSPID_VALVE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EBSTEIN_ANOMALY_OF_THE_TRICUSPID_VALVE	YY1	NONO	MYH7	JPH2	FREM1
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	RASA2	GPC3	SLC25A24	CHRNG	FLNB	CD96	SPRED2	SKI	CANT1	PTPN11	CHRM3	RAF1	XYLT1	MCOLN1	RRAS	MRAS	COL3A1	NRAS	SOS2	BRAF	RIT1	FBN1	MYH3	ACTG2	CBL	DIS3L2	RRAS2	KRAS	MANBA	COLEC11	RMRP	SOS1	ATP7A	LZTR1	GPC4
HP_ABNORMALITY_OF_THE_2ND_TOE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_2ND_TOE	GDF5	IL1RAPL1	MID2	ZNF711	PTCHD1	TSPAN7	CLCN4	PIGL	AGTR2	USP27X	DMD	ARHGEF6	MED12	BCOR	TBC1D24	ZNF41	BMPR1B	SLC9A7	FRMPD4	KCNN3	CHSY1	ZNF81	ARX	GDI1	IQSEC2	PAK3	ALG13	MECP2	RAB39B	FTSJ1	ACSL4	UPF3B	USP9X	CNKSR2	STEEP1	RPS6KA3	BMP2	IPO8	HCFC1	DLG3	ATP6V1B2	SYP
HP_ABNORMALITY_OF_THE_3RD_TOE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_3RD_TOE	LMNA	SALL1	DACT1	COG8	BCOR
HP_ABNORMALITY_OF_THE_5TH_TOE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_5TH_TOE	EVC	B9D2	WWOX	ALG3	DYNC2LI1	SC5D	PRKACB	DHCR7	KIAA0825	LZTFL1	PIGH	RPGRIP1L	PLAA	CEP290	FREM1	GLI3	DYNC2I1	PPP1R15B	TTC21B	INPP5E	TMEM216	CKAP2L	KCNJ5	SMOC1	MKKS	SALL1	HEPHL1	CHSY1	RNF6	TMEM107	C2CD3	TRMT10A	TCTN2	IFT172	IFT140	DYNC2I2	TMEM67	TMEM231	CEP120	MKS1	CD96	BBS2	SETD5	DDX59	CC2D2A	IFT74	B9D1	CSPP1	IFT80	LMBR1	KCNJ2	BBS9	TMEM237	RPGRIP1	DYNC2H1	TGFBR2	OTUD5	ARID1B	PDE6D	TCTN3	DLEC1	NEK1	EVC2	HOXD13	WDR19	KCNN3	EXTL3	LBR	TXNDC15	BMP4	NPHP3	TCTN1	CIBAR1	KIF7
HP_DEVIATION_OF_THE_5TH_TOE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVIATION_OF_THE_5TH_TOE	KCNJ5	SALL1	HEPHL1	WWOX	ALG3	CHSY1	RNF6	TRMT10A	PIGH	KCNJ2	PPP1R15B	TGFBR2	CKAP2L	DLEC1
HP_ABNORMAL_VENTRICULAR_SEPTUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VENTRICULAR_SEPTUM_MORPHOLOGY	RERE	SMAD4	TGFB3	COMT	KAT6A	ZEB2	PLXND1	EOGT	UQCRFS1	GATA1	SKIV2L	NDUFA13	GATA6	XYLT1	SMG8	MGAT2	KANSL1	GATA4	GPC3	COX7B	CKAP2L	GTF2I	SCN2A	PEX3	NCF1	ARSL	ROR2	PIEZO2	GDF1	NR2F2	FBN2	RYR1	SOS1	EIF4H	MED12	RPL18	ERCC3	AMER1	YY1AP1	SATB2	CTU2	NDUFA10	TTC26	GPC4	MPLKIP	LRP2	PAH	NDUFS2	CANT1	TUBG1	FIBP	ARHGAP31	FOXRED1	RRAS2	MYCN	GDF6	SMARCA4	SURF1	RPL10	EVC2	SLC29A3	GTF2E2	CHD7	CALM3	ESCO2	ACADVL	CRKL	SMN1	DVL3	THOC6	GNAO1	SMC3	SEMA3E	MID1	PHGDH	CHD4	TBCK	SMC1A	FANCC	NAA10	SOX2	SMARCB1	RARB	MEOX1	SHANK3	BCL7B	NDUFS4	SMG9	PEX6	RPL27	TTC7A	PET100	ARID1A	RIT1	FANCB	SPTBN1	HRAS	KDM6A	DYNC2LI1	WAC	RPL35A	ABL1	RPS10	WDR26	RPS26	WNT4	NIPBL	TASP1	CD96	JAG1	TTC37	PEX12	TBX1	SOX11	IFT81	KCNA1	MED25	MYL2	TMEM94	TARS1	POLA1	SLC19A2	ARID1B	RPS15A	MEIS2	TCIRG1	MYPN	NXN	METTL27	GJA1	DHCR7	NSD2	CREBBP	BRF1	STAMBP	STAG2	NKX2-1	SNRPB	DYRK1A	CDK13	FTO	PEX16	ESS2	FIG4	FADD	NDUFS8	SPEN	RPL15	VPS33B	RSPO2	LONP1	RAD21	CHRM3	PIK3R2	CCDC174	NDUFV2	HCCS	GATA5	GLI3	NDUFA4	ELN	ASXL1	DLL4	C2CD3	RFC2	LBR	NODAL	NDUFA9	TKT	UBE3B	MGP	PEX26	NDUFAF2	FKBP6	BRD4	PIGL	NSD1	SMARCD1	XYLT2	OTUD5	CSGALNACT1	GDF3	RPS19	TGDS	DGCR2	VPS13B	PLAGL1	LTBP2	MICU1	SIK1	BUD23	FGFR2	NONO	WDR37	NDUFA12	MYOCD	DNAJC30	ATRX	GRM7	TRAIP	PNKP	DMXL2	FLI1	TNFRSF11A	PEX14	IGBP1	RPS24	CCND2	CASK	SCN1B	LRP5	VPS37D	ECE1	KAT6B	PPP1CB	EP300	TAPT1	MEG3	ADA2	MKKS	SALL1	IGF1R	COG6	PEX1	NUP107	ADAMTS10	PDHA1	NDUFS7	RPL3L	ARX	ZNF462	PALB2	TMEM260	ANKRD11	HYMAI	KDM3B	SETD5	SATB1	DLK1	NDUFA2	ECHS1	CACNA1D	YARS1	WBP11	HNRNPK	IFT172	CEP57	OTUD6B	GP1BB	AFF4	SLC19A3	COX15	CDK8	LARS2	PQBP1	PORCN	SVBP	BCOR	NOTCH3	KAT5	MLXIPL	DYNC2I1	MYBPC3	HDAC8	RAI1	KRAS	AKT3	FLNB	ARID2	NEUROD2	BRAF	FBN1	DSG1	MT-CYB	CTBP1	SPECC1L	DGCR6	LIMK1	PSMD12	NUP188	RPS17	RPS7	NDUFAF5	UMPS	NIPA1	VAC14	PUF60	KMT2D	INSR	ALG12	TBC1D24	RPS28	TBX3	GYG1	TP63	SIX6	CDKL5	CCDC32	FANCI	RPL35	LZTR1	ARCN1	ARVCF	ALKBH8	RPL5	NKX2-5	GLI1	NOTCH2	UFD1	SALL4	CCBE1	IDH1	NDUFV1	RPS27	ZNF699	TACO1	PACS1	SOX4	TFAP2B	HIRA	MYRF	FGFR1	SETD2	SMARCC2	SHOC2	BSCL2	CACNA1C	RPS20	PIGQ	VIPAS39	PGM1	CEP290	BMP2	HYLS1	TET3	B3GALT6	WASHC5	RAC1	PEX19	FOXF1	UBR7	CDC45	PIK3CA	TXNL4A	GTF2H5	SMARCE1	EVC	TAB2	GNB2	SLC37A4	UBR1	MAPK1	SYNE1	SEC24C	TBL2	ERCC2	EXT2	ZIC3	MASP1	WT1	SLC12A2	EXOC2	RTL1	APC2	TRIM8	PKD1L1	CPLX1	FGFRL1	NDUFAF6	ACVR2B	PEX11B	NDUFS3	DPH1	MAP2K2	TMEM270	SDHA	NEK9	PPP2R5D	PEX10	PEX13	DPF2	GPC6	CITED2	PEX5	EFTUD2	CHST3	CRB2	MIR17HG	TALDO1	STX1A	GLA	NOTCH1	NIPA2	CCDC22	LIPT1	BAZ1B	NDUFB11	RAB23	MTFMT	RNF113A	RPL11	UBE2A	RPL26	JMJD1C	RNU4ATAC	BCR	GTF2IRD2	KAT8	NF1	MED13L	ERBB3	FOXC2	PTPN11	NKX2-6	LETM1	STRA6	MAP2K1	TAOK1	NKAP	PEX2	MMP2	SEC31A	IPO8	HOXA13	ZMYM2	RPL31	SF3B4	SON	TCTN3	TBX5	DTNA	RPS29	MMP14	NDUFS1	B3GLCT	SOS2	LEMD2	DGCR8	NEK1	TSR2	ALG9	RREB1	PIGP	DDX11	CLIP2	NDUFC2	SH3PXD2B	SLC25A22	GTF2IRD1	RBM8A	NFIX	DNAJC19	CWC27
HP_POLYDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYDACTYLY	OFD1	COMT	TMEM237	PRKACB	LZTFL1	CEP120	TMEM216	CCDC28B	HYLS1	SALL4	GPC3	BBS4	EVC	ARL6	CHSY1	CEP41	SUCLG1	TMEM67	GLI1	IFT140	FAM149B1	NELFA	AHI1	SDCCAG8	CTU2	TTC26	GPC4	INTU	IFT27	RBM10	BMPR1B	LETM1	DDX59	DYNC2H1	B9D1	LMBR1	BBS5	FANCB	ZIC3	CC2D2A	FGF10	IFT74	CFAP418	EVC2	HOXD13	CHD7	CEP290	ARMC9	CEP19	BBS7	TOGARAM1	IQCE	CILK1	PTCH2	HESX1	NEK1	CNTNAP2	SC5D	SEMA3E	PLAG1	ZSWIM6	PNPLA6	MBTPS2	GLI3	EFNB1	ABCA12	CPLX1	WDR35	COLEC10	PPP2R1A	KIAA0586	TGFBR1	DYNC2LI1	FGFR2	TMEM107	SMOC1	OTX2	DYNC2I1	TASP1	CD96	FLNA	EBP	TOPORS	UQCC2	IFT81	NPHP1	PRDM16	IGF2	IFT43	CSPP1	POU1F1	SUFU	IFT52	DHCR7	TGFBR2	NSD2	CREBBP	TMCO1	TMEM231	WDR19	TCTN2	RPGRIP1L	GLI2	KIAA0753	GDF5	KIAA0825	PLAA	PIK3R2	TRIM32	RERE	IFT172	USP9X	TBX1	C2CD3	KIF7	LHX4	LBR	ZNF141	INPP5E	HOXA13	MEGF8	MKS1	TMEM138	CEP104	HMGA2	BMP4	FANCD2	OTUD5	MKKS	RAI1	IFT80	CTBP1	NEK9	TCTN1	TFAP2A	CIBAR1	GATA6	FLI1	FLII	CCND2	AKT3	DEAF1	PHF8	EP300	PTCH1	SALL1	SMO	COG6	ARL13B	SETD5	PTEN	PDE6D	H19	HNRNPK	TTC21B	CPLANE1	GP1BB	FBLN1	PORCN	PIGG	PURA	GDF6	BBS12	NKX2-6	PROP1	BBS9	INSR	BBS2	SHH	PRKCZ	PIBF1	TBX3	CENPF	UBE4B	ARVCF	NKX2-5	FOXA2	UFD1	ALX3	BBS1	ZNF699	CDKN1C	DYNC2I2	TFAP2B	HIRA	LHX3	KCNAB2	WASHC5	DYNLT2B	MMP23B	CDC45	PITX1	PIK3CA	KIF3B	PDPN	FGFR3	SPRED1	RAB23	DACT1	RPGRIP1	STAG2	SEC24C	IFT57	NPHP3	MAFB	CHN1	PRKACA	WNT7A	B9D2	AFF3	ADNP	HSPG2	FGFRL1	SPEN	EFTUD2	DYRK1A	ZNF423	NCAPG2	KATNIP	CBY1	CRB2	TWIST1	PUF60	TCTN3	NEU1	SYNGAP1	CDCA7	CASZ1	CHST11	SCAPER	TRAF3IP1	BBS10	TXNDC15	JMJD1C	BHLHA9	CCDC22	WDPCP	BLM	SH2B1	BBIP1	CEP164	LUZP1	GJA1	ARL3	TTC8	SETBP1	GABRD	SKI	RREB1	IQSEC2	TMEM218	EXTL3	ACOX1
HP_PULMONARY_INSUFFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_INSUFFICIENCY	DSP	MUC5B	INVS	SFTPA1	TERT	ATP11A	TERC	ADA	EFEMP2	LEMD2	FAM13A	DPP9	SFTPC	COL1A2	COL1A1	KIF20A	ABCA3	FOXF1	PARN	RTEL1	STN1	DNAL1	GNPTAB	SFTPA2
HP_TRICUSPID_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRICUSPID_STENOSIS	CHST3	MYCN	RPS19	ADAMTSL2	FBN1
HP_ANAL_FISTULA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANAL_FISTULA	KDM6A	TGFB1	KMT2D	PKP1	MNX1	SYK
HP_ESOPHAGEAL_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ESOPHAGEAL_STENOSIS	COL7A1	TERT	DKC1	NOP10	MMP1	TINF2	WRAP53	RTEL1	NPM1	SAMD9	ACD	CTC1	LAMC2	FERMT1	COL4A5	IKZF1	USB1	COL4A6	TERC	NHP2	LAMA3	LAMB3	PARN	PGM3	HLA-B	MYH11
HP_APLASIA_HYPOPLASIA_OF_THE_SPLEEN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_SPLEEN	HYDIN	AIRE	B9D2	ZMYND10	GDF1	DRC1	DNAI1	CCDC40	RSPH3	MCIDAS	CEP290	DNAH5	TMEM216	SAMD9	STK36	GAS2L2	STRA6	ZEB2	CCDC103	DNAAF11	CFAP300	STIM1	DNAAF2	SPAG1	ODAD1	TMEM107	DNAL1	FOXF1	TTC12	CCDC39	FAM111A	CCNO	RSPH9	TCTN2	NODAL	ODAD2	RELN	TMEM67	RPGRIP1L	CFAP298	KATNB1	MKS1	DNAAF1	FOXJ1	RPSA	ORAI1	NEK10	DNAAF4	ODAD3	ODAD4	CC2D2A	DNAAF5	LRRC56	GAS8	RPGR	B9D1	CSPP1	RSPH4A	MNS1	CCDC32	TWIST1	TMEM237	RPGRIP1	RSPH1	DNAAF3	DNAH9	CCDC65	MYCN	TCTN3	DNAJB13	HMOX1	WNT3	OFD1	DNAH11	NEK8	NME8	NPHP3	TXNDC15	ZIC3	DNAI2	TCTN1	MCM10	NDE1	CFAP221	SPEF2	TMEM231	DNAH1	DNAAF6
HP_ACETABULAR_SPURS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACETABULAR_SPURS	EVC	DYNC2I1	COL2A1	WDR19	EVC2	DYNC2H1
HP_ABNORMAL_GREATER_SCIATIC_NOTCH_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GREATER_SCIATIC_NOTCH_MORPHOLOGY	COL2A1	GPC4	INTU	COL11A1	GPX4	SLC26A2	DDRGK1	PCYT1A	SBDS	EXTL3	GPC3	FGFR3	TRPV4	ALG9	DYM	DNAJC21	GUSB	SRP54	CFAP410
HP_FEMALE_PSEUDOHERMAPHRODITISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEMALE_PSEUDOHERMAPHRODITISM	CYP19A1	CD96	FREM2	GRIP1	FRAS1	NR3C1	SPECC1L
HP_TRUE_HERMAPHRODITISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRUE_HERMAPHRODITISM	B9D2	TMEM107	SOX9	CC2D2A	SRY	TCTN2	B9D1	CSPP1	CEP290	TXNDC15	WT1	TMEM237	RPGRIP1	TCTN1	TMEM67	TMEM216	TMEM231	RPGRIP1L	TCTN3	NR5A1	MKS1
HP_ABNORMALITY_OF_THE_FEMALE_GENITALIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_FEMALE_GENITALIA	FSHR	WNT10A	LMNA	AR	CCDC28B	NDN	HYLS1	BMP15	SALL4	RAC3	COX7B	FREM1	MNX1	GATA3	FANCC	SNRPN	PEX3	DCAF17	NBN	EIF4H	GREB1L	FANCF	ERCC4	AKT1	FANCD2	LRP2	NR2F2	IRF6	HSD3B2	BBS5	NR5A1	CHRNG	CTC1	PHKB	EVC2	PTEN	CEP290	WT1	CEP19	ESCO2	FGFR1	FRAS1	SMC3	SEMA3E	LHB	GNRHR	BBS7	SDHD	CYP17A1	GMNN	MSH2	RARB	FREM2	SDHC	POLR1D	MAD2L2	FANCA	HS6ST1	PMS2	PEX6	WNT7A	TNXB	DYNC2LI1	ALMS1	ECEL1	RTEL1	DYNC2I1	NIPBL	CD96	PEX12	PLG	DUSP6	NSMF	MAGEL2	PSMC3IP	EPCAM	IL10RB	CLPP	FLI1	ESR1	FGF8	METTL27	MDM2	NPAP1	DHCR7	SOX10	CREBBP	PPP1R12A	PIGN	CEP57	RPS6KA3	MSH3	NDNF	PEX16	USF3	FIG4	OCA2	ZPR1	RELA	AIRE	FOXL2	SPIDR	LONP1	MYC	KAT6B	RAD21	CHRM3	TRIM32	HCCS	INSR	ZFPM2	DCC	FGFR2	POLD1	GNAS	ELN	RAB3GAP1	BAX	DIAPH2	CDH1	TBX1	FMR1	IL17RA	COL4A6	RABL3	BRAF	SRD5A2	FGF20	CDC73	IDH1	CORIN	UBE3B	RIPPLY2	PEX26	FKBP6	BMPR1B	TP53	BRD4	RAB18	FLT1	PEX5	DHH	MKKS	ERAL1	PIK3CA	WWOX	KLLN	BUD23	TERC	ANAPC1	NPHP3	PMM2	FANCE	DNAJC30	GLI3	WDR19	CYP11A1	PEX14	FAS	ZFTA	VPS37D	POC1A	RCBTB1	PTCH1	CCNQ	BRCA2	SDCCAG8	B4GALNT1	TP63	SALL1	SNORD115-1	CXCR4	KISS1	ANTXR2	TRIP13	EP300	HYMAI	DVL3	CYB5A	HARS2	PROK2	ORC6	XRCC2	NDUFB11	THOC6	CDKN1B	BRCA1	AKT2	TWIST2	IQCB1	ORC1	HDAC8	ORC4	TLR2	ATIC	RIPK4	FGF17	POLE	FH	PRKCD	SLC6A17	BNC1	CTCF	CEP164	CTBP1	CLEC7A	ISL1	UBR1	TALDO1	MTM1	DICER1	PRKCZ	TBX3	AXIN1	MLH1	MESP2	RIN2	MAP3K1	FANCB	WDR11	FGFR3	UFD1	AURKA	EIF2B2	SRY	DACT1	PALB2	SLC37A4	CBX2	HIRA	MYRF	KCNAB2	NPM1	ARL6	SMAD4	SF3B4	AGPAT2	PPARG	FANCG	FGF10	MKS1	FDXR	STOX1	SEMA4A	LMNB2	HNF1A	ITGA8	TSC2	SETBP1	PDPN	PHKA2	GGPS1	NSUN2	F7	NUP107	COL3A1	SRC	SEC24C	NAB2	MRPS22	NHP2	TRAF3IP2	CDC45	PDE4D	NRAS	PEX1	POR	HSPG2	GAD1	CPLX1	RNF43	NR0B1	PEX11B	KEAP1	RSPO2	SPEN	MSX1	FOXF1	CYP11B1	PAX3	RAB3GAP2	PRLR	LZTFL1	CAV1	BRIP1	SLX4	FIGLA	BAZ1B	ATM	ADH5	PLA2G2A	TCTN3	SCAPER	BBS10	PDGFRL	FOS	DMRT3	NOP10	NIN	HERC2	UBE2T	BBIP1	STRA6	HOXA13	PEX2	BBS2	NTHL1	RAD54B	WDPCP	ALG9	TTC8	SOX9	WNT4	ZMYM2	RFWD3	TINF2	RAD50	B3GLCT	SOHLH1	MSH6	EIF2B3	KRAS	TOE1	RREB1	CLIP2	DHX37	HFM1	GTF2IRD1	RBM8A	SPECC1L	FASLG	POF1B	DKC1	COMT	CDC6	RAD51	LEPR	MAMLD1	GTF2I	SOX3	NCF1	ROR2	RAD51D	POLR1C	INTU	IFT27	MLH3	BUB1	GALK1	ARHGAP31	ZMPSTE24	MCC	CHD7	IFT74	CASP10	GALT	FANCL	COL5A2	TBX6	SMAD3	PTCH2	CCND1	PHKG2	MID1	PHGDH	CAVIN1	BUB1B	SLC25A24	PTPN11	HSF2BP	EWSR1	RECQL4	RPS20	LEP	ZEB2	PPP2R1A	CHEK2	BCL7B	MYH3	NDP	NPHP4	PAX6	MKRN3	NPHP1	HNF1B	OPCML	FLRT3	PRDM16	PRKAR1A	ARID1B	NXN	NSD2	DVL1	FANCI	SMC1A	GREM1	EIF2B1	EIF2B4	ERBB2	TACR3	STAG3	VAMP7	RERE	USB1	TWNK	TGFBR2	RFC2	C14orf39	PROKR2	EIF2B5	LIG4	COL1A1	BMP4	ATR	JAK3	CTNNB1	CDH23	PLAGL1	BLM	CCDC141	RAD51C	KIF7	TCOF1	TRAIP	KISS1R	PCNT	DLL3	BARD1	STAT6	POLG	LIPE	WNT5A	WNT9B	BMPR1A	SMARCA2	TGFBR1	AIP	CFAP418	ZFHX4	FAN1	TAC3	BSCL2	COL25A1	IDH2	TERT	DYNC2H1	CYP19A1	GRIP1	CDT1	GP1BB	NR3C1	SNORD116-1	CIDEC	BCOR	WDR35	MLXIPL	SUFU	STK11	DMRT1	IFT172	MT-CYB	LIMK1	SPRY4	FSHB	VAC14	BBS9	TSC1	TTI2	LARS2	FEZF1	CEP152	UBE4B	IL17RC	WRN	ARVCF	KIF14	GLI1	HOXD13	FLCN	IL17F	PRKN	BBS1	DDB1	RET	SLC35A2	FZD2	SEMA3A	AXIN2	TBC1D20	PEX19	LFNG	MMP23B	MRE11	PALLD	IL17RD	MCM8	DLC1	EVC	SPRED1	GNB2	ANOS1	PORCN	BUB3	TBL2	RSPO1	PWAR1	WNT3	PARN	FANCM	SEC23B	FGFRL1	BBS12	GATA4	TMEM270	POLR3H	BBS4	RASGRP1	PEX10	PEX13	HESX1	INVS	DYNC2I2	PTPRJ	ACTB	PMS1	SETD2	SIM1	STX1A	OFD1	CDKN2A	COL4A5	POLG2	CASZ1	POLR1B	AARS2	GNRH1	DHCR24	MINPP1	JMJD1C	GTF2IRD2	ESR2	PTPN12	APC	LETM1	LUZP1	SPINT2	HES7	TBX15	PWRN1	MMP2	COL5A1	MEN1	GABRD	SKI	WRAP53	MCM3AP	MMP14	IFT80	SDHB	TRAF3IP1	SMCHD1	PLIN1	CAPN15	NOBOX	COL7A1
HP_APLASIA_HYPOPLASIA_OF_THE_OVARY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_OVARY	GNRHR	BBS7	PROK2	AR	PTPN11	SRY	GNRH1	BMP15	SPIDR	TACR3	KISS1R	DMRT3	ARL6	BNC1	VAMP7	TRIM32	FGF17	ZFPM2	NR0B1	BBS12	LEPR	LEP	BBIP1	GATA4	IFT172	SOX9	BBS2	POLR3H	MAP3K1	BBS4	MKS1	BBS1	FOXL2	DCAF17	WDPCP	SPRY4	C14orf39	WT1	CFAP418	NR5A1	TTC8	DHH	PAX6	LZTFL1	SDCCAG8	BBS9	KISS1	TAC3	SETBP1	IFT27	NSMF	MCM8	PSMC3IP	DHX37	HARS2	FIGLA	NUP107	BBS5	LARS2	MKKS	ERAL1	PROKR2	CHD7	IFT74	FGF8	NPHP1	ALG9	FSHR	CEP290	WDR11	SCAPER	WWOX	CEP19	HS6ST1	FGFR1	PPP1R12A	MRPS22	NDNF	BBS10	PMM2	NOBOX	DUSP6	TP63	ZPR1
HP_STREAK_OVARY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STREAK_OVARY	SETBP1	WT1	SRY	BMP15	PSMC3IP	DMRT3	DHX37	HARS2	BNC1	VAMP7	FIGLA	SPIDR	NUP107	ZFPM2	NR0B1	DHH	ERAL1	GATA4	SOX9	FSHR	POLR3H	NR5A1	WWOX	MAP3K1	PPP1R12A	FOXL2	MRPS22	DCAF17	NOBOX	PAX6
HP_PRECOCIOUS_PUBERTY_IN_FEMALES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRECOCIOUS_PUBERTY_IN_FEMALES	CAVIN1	ALMS1	PPARG	CYP17A1	BSCL2	FOS	CAV1	AGPAT2
HP_ABSENT_TESTIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_TESTIS	ERCC4	FANCM	SLX4	FANCD2	RFWD3	RAD51	PALB2	UBE2T	MAD2L2	GDF6	BRCA2	XRCC2	FANCA	FANCC	BRIP1	TCTN3	DHX37	FANCG	FANCB	FANCL	RAD51C	BRCA1	FANCE	FANCI	FANCF
HP_OLIGOSACCHARIDURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OLIGOSACCHARIDURIA	MAN2B1	GLB1	GAA	FUCA1	NEU1	MIR140	SNX14	OCRL	MANBA
HP_ABNORMAL_CIRCULATING_PORPHYRIN_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_PORPHYRIN_CONCENTRATION	UROS	ALAS2	CPOX	FECH	UROD	ALAD	GATA1	PPOX
HP_PORPHYRINURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PORPHYRINURIA	HMBS	HFE	SLCO1B3	UROS	CPOX	PPOX	SLCO1B1	GATA1
HP_APLASIA_HYPOPLASIA_OF_THE_BLADDER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_BLADDER	MKS1	ALG9	MBTPS2	PLEC	FREM2	LAMA3	LAMB3	ITGB4	MED12	GRIP1	ITGA6	WNT4	LAMC2
HP_URETHRAL_VALVE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETHRAL_VALVE	APC2	SALL1	BNC2	CHRM3	SRCAP	DACT1	SETD2	IGF2	HPSE2	NSD1
HP_ABNORMALITY_OF_THE_HYPOTHENAR_EMINENCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_HYPOTHENAR_EMINENCE	AAAS	FGD4	RPL11	TRAPPC11	GMPPA
HP_APLASIA_HYPOPLASIA_OF_THE_PALMAR_CREASES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_PALMAR_CREASES	CHST14	PIEZO2	NUP88	DOK7	RAPSN	MUSK	AUTS2	DSE	SLC18A3	PLOD3	RIPK4	MYH3	MYOD1	NALCN	SLC39A13
HP_ABSENT_PALMAR_CREASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_PALMAR_CREASE	SLC18A3	PIEZO2	RIPK4	MYH3	NUP88	DOK7	MYOD1	RAPSN	MUSK	NALCN	SLC39A13
HP_SIRENOMELIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SIRENOMELIA	TBC1D24	WNT9B	PTEN	AKT1	GREB1L	ITGA8	DACT1	ATP6V1B2	RET	FGF20
HP_PATELLAR_SUBLUXATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATELLAR_SUBLUXATION	FBN2	YY1	USP9X	COL12A1	TBC1D7
HP_HYPEREXTENSIBILITY_OF_THE_KNEE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPEREXTENSIBILITY_OF_THE_KNEE	HRAS	PRR12	ELN	COL5A1	COMP	FGD1	LMX1B	ANO5	ALDH18A1	CANT1	TNFRSF1A	NRAS	B4GALT7	CDT1	AP4E1	XYLT1	MCOLN1	AP4M1	GRIA3	KRAS	AP4B1	FGFR3	SH3PXD2B	COL1A2	SKI	PTEN	AP4S1	FBLN5	MEFV	WASF1	SLC6A9	CTDP1	TRIP11	FBN1
HP_LIMITATION_OF_KNEE_MOBILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITATION_OF_KNEE_MOBILITY	ADGRV1	EZH2	SCN1B	GABRG2	FLNA	EXT1	SCN9A	STX1B	SCN1A	MAP3K7	FLNC	SCN2A	DPYSL5	EXT2	CSGALNACT1	GABRD	HCN1	DYSF	PCDH19	GABRA1	FBN2	HGD	VCP	TOR1A	GPC6	MYOT	DYM	ASAH1	COL2A1	ATP7A	COL9A3
HP_FIBULAR_BOWING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FIBULAR_BOWING	CYP2R1	PHEX	CYP27B1	CLCN5	SLC34A3	COL11A2	VDR	FGFR3
HP_LIMITATION_OF_MOVEMENT_AT_ANKLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMITATION_OF_MOVEMENT_AT_ANKLES	MYH7	ZMPSTE24	LMNA	NIPA1	OCA2	UBE3A	MAP3K7	FLNA
HP_METATARSUS_VALGUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METATARSUS_VALGUS	POMGNT2	POMT1	BMPR1B	SIL1	FKRP	HSPG2	INPP5K	LARGE1	FKTN	DAG1	B3GALNT2	B4GAT1	COL4A1	POMK	PTEN	AKT1	CRPPA	RXYLT1	POMT2	GDF5	TGDS	POMGNT1
HP_LONG_TOE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_TOE	XYLT2	CPT2	PUF60	FLI1	TMEM94	GNE	PAPPA2	MEG3	IRX5	COL12A1	RTL1	FIBP	B4GALT7	SCARF2	SMS	DPM1	KCNH1	PHF8	ZEB2	DLK1	COL6A3	SOX5	NPR2	KCNN3	PTH1R	LARS1	GATAD2B	FBN1	COL6A2	COL6A1	FAM20C	NPR3	POLR3A	IPO8	TBX4	PRKAR1A	POLR3GL	NSDHL
HP_HYPERPITUITARISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPITUITARISM	FSHR	GNAS	FANCM	AR	SRY	MEN1	BMP15	SPIDR	STAG3	HSD17B4	VAMP7	CDKN2B	ZFPM2	GPR101	NR0B1	CDKN1B	AIP	TSHB	GATA4	SOX9	BNC1	POLR3H	MAP3K1	FOXL2	C14orf39	LHCGR	NR5A1	CDKN1A	DHX37	BAP1	MEIOB	FGD1	KCNJ11	CDH23	NANOS1	MSTO1	TEX15	SMARCE1	ERCC6	FIGLA	NF2	HSD3B2	LARS2	DHH	SOHLH1	XRCC2	TRAF7	POLA1	WT1	SMO	WWOX	CYP11A1	PMM2	SYCP3	AKT1	GDF9	ZMYND15	CNBP	ABCD1	CYP17A1	ESR2	DMRT3	PRKAR1A	CFTR	TRHR	CTNNB1	BRAF	PPP2R3C	HPGD	SMARCB1	TEX14	TDRD9	POLR3A	NSMCE2	SUFU	KLHL10	MCM8	PSMC3IP	POR	CYB5A	CBX2	PRLR	NUP107	KISS1R	TAF4B	ESR1	TERT	TEX11	SLCO2A1	CDKN2C	PDGFB	HFM1	SYCE1	MRPS22	MCM4	PNLDC1	FMR1	PIK3CA
HP_APLASIA_HYPOPLASIA_OF_THE_THYMUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_THYMUS	TBX1	RAG1	NSMCE3	ANTXR2	TTC37	COMT	PLXND1	HIRA	TTC7A	SKIV2L	G6PC3	PEX5	RORC	ATM	POLR1D	IL2RG	NKX2-6	TP63	ARVCF	SEC24C	CHD7	AK2	RREB1	POLR1B	WAS	WIPF1	GP1BB	NEK9	UFD1	DCLRE1C	MCM10	POLR1C	ADA	TCOF1	SEMA3E	JMJD1C	RAG2
HP_THYMUS_HYPERPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THYMUS_HYPERPLASIA	MTHFR	PTEN	AKT1	ALG14	VANGL2
HP_DYSLEXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSLEXIA	APC	C9orf72	GRN	TREM2	SLC2A1	PSEN1	TUBG1	NIPA2	GABRA1	MAPT	JRK	TMEM106B	PLA2G6	OPA3	CACNA1H	DNAAF4	SQSTM1	GABRG2	STIM1	VPS41	VCP	CHMP2B	SPTBN1	PNKP	MAP1B	SARDH	GCLC	VPS13D	NIPA1	GABRB3
HP_ALEXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALEXIA	TMEM106B	GRN	C9orf72	CHMP2B	PSEN1	VCP	MAPT	TREM2
HP_AGNOSIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGNOSIA	APOE	KRAS	PMS1	GRN	PSEN2	C9orf72	EPCAM	PSEN1	ABCD1	TREM2	MAPT	ATP6AP2	MSH6	PMS2	CEP85L	RPS20	ABCA7	MLH1	MLH3	TYROBP	TGFBR2	PIK3CA	TOMM40	BMPR1A	SORL1	SEMA4A	TMEM106B	APP	CHMP2B	FAN1	MSH2
HP_FINGER_AGNOSIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FINGER_AGNOSIA	TREM2	APP	PSEN2	TOMM40	PSEN1	ABCA7	SORL1
HP_DYSGRAPHIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSGRAPHIA	MLXIPL	GTF2IRD2	TREM2	PSEN2	PSEN1	MAPT	TMEM106B	MSH6	VPS37D	RPS20	GRN	ABCA7	ELN	MLH3	BCL7B	TMEM270	GTF2I	NCF1	TGFBR2	TOMM40	RFC2	CHMP2B	BMPR1A	VCP	SEMA4A	LIMK1	SOX6	EIF4H	FAN1	MSH2	SPG21	KRAS	PMS1	C9orf72	FKBP6	EPCAM	STX1A	PMS2	TMEM240	BAZ1B	MLH1	SQSTM1	METTL27	TBL2	CLIP2	PIK3CA	BUD23	SORL1	GTF2IRD1	APP	DNAJC30	FGF14
HP_ECHOLALIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECHOLALIA	PUF60	TCF4	SLC25A13	C9orf72	COX7B	KRAS	PSEN1	TREM2	GRIK2	COL1A1	AMER1	PLEC	FGFR1	FLCN	TMEM106B	UBE2A	RAI1	ATP6AP2	COL1A2	EHMT1	GRN	CKAP2L	MAPT	SMARCA2	SQSTM1	HDC	NDUFB11	SLC35C1	HERC2	ACTB	ADAMTSL2	ADAMTS2	VCP	CHMP2B	SPTBN1	ACTG1	HCCS	NAGS	SLITRK1
HP_TRANSIENT_GLOBAL_AMNESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRANSIENT_GLOBAL_AMNESIA	TRAF7	TNFSF4	TERT	SUFU	P2RY11	PDGFB	SMO	YY1	MOG	HLA-DQB1	HLA-DRB1	ZNF365	CTSH	SMARCE1	HCRT	SMARCB1	NF2	AKT1	BAP1	MEN1	PIK3CA
HP_SLEEP_APNEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLEEP_APNEA	RERE	IDS	UNC80	MYO9A	AGRN	ASXL1	TSPYL1	FLCN	NDN	PRPH	AIP	NFIX	COQ2	CCDC47	SNRPN	USP7	PRPS1	VAMP1	LARP7	GABRG2	CTSK	C2CD3	TERT	FGFR3	NGLY1	SYT1	FGFR2	AHDC1	GSN	RUNX2	ASCL1	GNE	IDUA	SATB2	OCA2	PRR12	TRPV4	SLC25A1	SIM1	VPS51	CREBBP	SLC5A7	NEFH	SPOP	PRMT7	TWIST1	COL3A1	ARCN1	SLC18A3	COLQ	SNAP25	GPR101	EDN1	ARL3	MAGEL2	COL13A1	LRPPRC	LTBP3	SOD1	DDB1	NADK2	PIGT	P4HTM	NONO	DKK1	SYT2	CA2	SH3BP2	LAMB2	PCGF2	NALCN	RAI1	HERC2	CHAT	CTNNB1	DCTN1	DPH1	FXR1	DNA2	BRAF	EP300	BMP2	SKI	TCF4	PWRN1	HRAS	RET	MED27	GNAI3	ATN1	GRIN2A	MKRN3	SNORD115-1	PLCB4	GUSB	LRRC32	ZMYM2	POGZ	NPAP1	CEP57	SNORD116-1	AFF4	RPS6KA3	SRPX2	PWAR1	PHOX2B	EXOC2	GNPTAB
HP_CENTRAL_SLEEP_APNEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_SLEEP_APNEA	DKK1	SLC25A1	SYT2	SIM1	MYO9A	AGRN	SLC5A7	COQ2	CHAT	FGFR3	CCDC47	SLC18A3	PRPS1	VAMP1	USP7	SNAP25	COL13A1	RET	MAGEL2	LRPPRC	ASCL1	NADK2	PHOX2B	PIGT	NGLY1
HP_WIDE_CRANIAL_SUTURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDE_CRANIAL_SUTURES	MSX2	MMP2	RBM10	DCHS1	SETBP1	SLC34A3	ZMPSTE24	MED12	LMNA	ACE	REN	CYP27B1	FIG4	CYP2R1	BANF1	PEX1	ALPL	AGO2	VDR	ALDH18A1	FAT4	AGTR1	CRTAP	POLR3A	AGT	VAC14
HP_OPSOCLONUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPSOCLONUS	CLCN7	TNFSF11	SNX10	GBA	KIF1B	TMEM240	TCIRG1
HP_VERTICAL_NYSTAGMUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERTICAL_NYSTAGMUS	TTBK2	CACNA1A	PEX5	PRRT2	ANO10	COQ2	MRE11	PET100	AHDC1	ATP1A2	PIGQ	PLA2G6	PIGN	SCN1A
HP_MUSCLE_FIBRILLATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_FIBRILLATION	NOP56	GARS1	BIN1	DNM2	TFG	SH3TC2	SPTLC1	UBA1	EXOSC3	FXR1	VWA1	AIFM1	IFRD1	TBCD	SLC25A21	TRAK1	ATXN3	CCNF	SLC52A2	AGTPBP1	SYT2	RMND1	CACNA1A	TSPYL1	CHCHD10	SMN1	NDUFS4	HSPB1	MYF6	KCNK9	SCN1A	MTMR14	PRRT2	ASAH1	SLC52A3	DYSF	RYR1	VCP	HINT1	ATP1A2	ADPRS	OPTN	SMN2
HP_MUSCLE_FLACCIDITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_FLACCIDITY	PEX6	KCNJ5	GABRA3	SIL1	UBE3B	INPP5K	KCNJ18	SCN4A	COL1A1	PLEC	LAMP2	CACNA1S	KCNJ2	COL1A2	PEX1	KCNE3
HP_PERCUSSION_MYOTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERCUSSION_MYOTONIA	SCN4A	CAVIN1	HINT1	CAV3	CLCN1	SVIL	DNAJB6
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	RERE	KCNQ2	UBAP1	TSC1	IL12A-AS1	NAXE	IL12A	MECP2	SELENOI	ARG1	OPA1	DCC	FGFR1	POLR3K	ARX	GIPC1	SLC2A1	NDUFA13	ABCD1	GBA	TXNRD2	DNM1L	KCNJ6	POMT2	AP4B1	CKAP2L	FAR1	NT5C2	KIDINS220	MT-ND5	L2HGDH	CEP290	ENTPD1	CTLA4	GPT2	LMNB1	CHCHD10	NPPA	PNP	WDR45	NF1	WDR48	PCYT1A	NEK1	PAX3	MICOS13	ERCC3	BAP1	NDUFA10	MTHFR	HLA-B	MPLKIP	LAMB1	CCDC88C	NDUFS2	ERAP1	MT-TH	SMARCE1	TECPR2	SPP1	NDNF	WDR4	TPRKB	RDH12	RANBP2	FOXRED1	MT-ATP6	GDF6	SURF1	REEP1	TBCD	PEX7	ALS2	MT-CO1	SPG7	ATP13A2	GTF2E2	TRAF7	ADA2	RASA1	EIF2S3	MT-ND1	ARL6IP1	RRM2B	NIPA1	NADK2	HESX1	PRF1	KY	SLC18A2	TREX1	AP5Z1	FA2H	VCP	RNASEH2C	STAT4	PLP1	IFIH1	RNU7-1	SMC1A	CA2	AKT3	SQSTM1	ABCC6	C19orf12	RHOBTB2	ARHGAP31	MT-ATP8	MTOR	MEOX1	RPS20	SCN5A	L1CAM	RTN2	ALG3	MT-TF	HS6ST1	NDUFS4	TRAPPC2L	AP4S1	PSAP	KCNJ18	CHD7	AFG3L2	PET100	ATP1A3	LYRM7	HLA-DPA1	AP4E1	NOTCH3	MT-ND6	AP4M1	CACNA1A	CCT5	RNASEH2B	TNFRSF11A	GJC2	ATP1A2	MTRFR	GJA1	DUSP6	PEX3	EPCAM	COL3A1	SUOX	MT-CO2	TARS1	FLRT3	TBK1	PRDM16	NAGA	RAB3GAP2	PROKR2	SCN1A	MT-TL1	FBLN1	CYP2U1	TERT	FGF8	TRAPPC4	ALDH18A1	PDGFB	SOX10	MTPAP	ZFYVE26	STAMBP	HMGCL	LCA5	FKTN	VAMP1	SP110	PIK3CA	NDUFS8	TLR3	AUH	SPATA7	ARNT2	TACO1	PDHX	ERLIN2	NDUFV2	IBA57	USP45	ADAR	NDUFA4	DDHD2	MLH3	ENPP1	TLR4	LIPT2	FLRT1	MT-TC	TGFBR2	DNASE1L3	LIPT1	ARFGEF2	PRPS1	PNPLA6	SNORD118	NDUFA9	POLG	B3GALNT2	MSH2	KRAS	CARS2	NDUFAF2	CRX	CPT1C	SLC30A10	TPP2	SLC25A15	KIF1A	TOE1	DOCK6	MAG	FKRP	GDF3	SLC33A1	TULP1	FUS	HSPD1	CCDC141	GOT2	EXOSC8	PI4KA	NDUFA12	MT-CYB	DSTYK	GBE1	APOE	SPATA5L1	MARS1	GALC	MMUT	COL4A1	IFNGR1	CAPN1	KCNJ13	AASS	SLC16A2	ATRX	COASY	TUBB2B	C4A	UCHL1	PRTN3	HPRT1	LYST	SPG11	BMPR1A	NDUFS7	RPGRIP1	TNR	SLC1A3	PDHA1	SMARCB1	FAN1	POMGNT1	ANGPTL6	DLL4	TBC1D24	PAFAH1B1	HLA-DPB1	PGAP1	TMEM222	ADGRG1	NEXMIF	PSAT1	PROK2	PTEN	TFG	NDUFA2	ECHS1	AIMP1	SDHAF1	ATL1	IL23R	MT-TK	HPDL	RNF216	SDHD	MT-ND4	RNASEH2A	KLC2	SLC19A3	PHYH	COX15	REEP2	SPAST	SARDH	BCOR	TTPA	POLR3GL	PPOX	WDR11	EOGT	MT-TW	GABRA3	MRM2	RPE65	HSD17B10	CLTC	BCAS3	IFT140	WASHC5	USP8	SRPX2	ASAH1	FARS2	CFHR1	MT-TV	CYP7B1	AIFM1	SMARCAL1	TACR3	LIMS2	SDHA	ATP6V1A	STAR	LAGE3	SLC12A6	CACNA1S	DOCK8	NDUFAF5	INTS8	NUP62	PRKCZ	OPA3	SPOP	ARSA	UGP2	NF2	IDUA	FEZF1	UBE4B	MLH1	THSD1	CYP27A1	LMX1B	KPNA3	SOD1	KIF5A	PHACTR1	IMPDH1	CBS	SMO	IRAK1	NHLRC2	TBCE	EDNRB	NDUFV1	UBAC2	GBA2	AKT1	NUP107	PLA2G6	GM2A	BCAP31	AIPL1	HLA-DQB1	OSGEP	GUCY2D	PDGFRB	MEFV	KCNAB2	PPP1R15B	SEMA3A	CPT1A	SAMD9	NNT	B3GALT6	C9orf72	GUCY1A1	SEMA4A	CYP26C1	CTC1	SPG21	NOTCH2NLC	MMP23B	SOX3	MT-CO3	GAN	SUFU	IL17RD	PDPN	GTF2H5	AMPD2	NOTCH1	LRAT	CCR1	STXBP1	VPS37A	PRNP	PMS2	BSCL2	ANOS1	PRRT2	ERCC2	TTC19	CFH	PAH	DYM	PTPN22	SAMHD1	AFF3	HSPG2	DPYD	GAD1	SPEN	NDUFAF6	POMT1	SOX2	TSC2	SETX	GMPPB	TARDBP	TGFBR3	NDUFS3	ZFYVE27	FGF17	COA8	ENG	SDHB	KCNT1	IL10	NMNAT1	MT-TS2	RD3	LRP4	NAGS	TP53RK	NUP133	KDM5C	PMS1	SLC25A10	GSS	MTFMT	WDR45B	PSEN1	RNF113A	MAN2B1	PRDM8	CASZ1	MRAP	HINT1	CFHR3	ZFR	HTRA1	BTD	MED13L	PNPLA8	MSH6	MFSD2A	PRUNE1	TP53	SPART	CACNA1D	CRB1	LUZP1	HACE1	LARGE1	IKBKG	TRMT10A	SLC35A2	B4GALNT1	PEX16	AGTPBP1	KLRC4	COL4A2	NDUFA8	OTX2	FUZ	TTR	SOX4	IQCB1	GABRD	SKI	EARS2	WDR62	NDUFS1	MT-TQ	SPRY4	WDR73	MC2R	GJB1	ATP6AP2	RBPJ	MOCS1	ARSI	FAS	GNAQ	DDHD1	PNKP
HP_PARAPLEGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARAPLEGIA	UBAP1	PNPLA6	MECP2	SELENOI	OPA1	GIPC1	NDUFA13	SLC2A1	ABCD1	GBA	DNM1L	FA2H	WASHC5	AP4B1	CKAP2L	NT5C2	USP8	KIDINS220	FARS2	ENTPD1	GPT2	CYP7B1	AIFM1	TACR3	WDR48	PAX3	ALDH18A1	NDUFAF5	INTS8	NDUFA10	LAMB1	NDUFS2	TECPR2	NDNF	FOXRED1	CCT5	CPT1C	FEZF1	SURF1	KPNA3	SPG7	KIF5A	ATP13A2	RASA1	ARL6IP1	HPDL	NIPA1	KY	AP5Z1	NDUFV1	VCP	GBA2	TACO1	PLP1	SLC33A1	C19orf12	SEMA3A	SAMD9	MAG	RTN2	HS6ST1	NDUFS4	B3GALT6	AP4S1	CHD7	PET100	AP4E1	AP4M1	SPG21	NOTCH2NLC	RNASEH2B	GAN	IL17RD	DUSP6	PEX3	AMPD2	DDHD2	FLRT3	REEP1	VPS37A	RAB3GAP2	ANOS1	BSCL2	CYP2U1	FGF8	SOX10	ZFYVE26	PAH	VAMP1	SP110	NDUFS8	KIF1A	PDHX	ALS2	NDUFAF6	PI4KA	ERLIN2	NDUFV2	IBA57	DCC	SETX	NDUFA4	NDUFS3	ZFYVE27	FLRT1	FGF17	SDHA	NDUFA9	HESX1	KLC2	PROKR2	NAGS	KDM5C	NDUFAF2	STXBP1	FGFR1	LIPT1	TOE1	MTFMT	WDR45B	L1CAM	MTRFR	HSPD1	MAN2B1	CCDC141	NDUFA12	DSTYK	ZFR	MARS1	GJC2	CAPN1	SLC16A2	ATRX	CACNA1D	UCHL1	GBE1	HACE1	LYST	SPG11	TFG	NDUFS7	B4GALNT1	PDHA1	SLC25A15	FUZ	TTR	PGAP1	PROK2	NDUFA2	NDUFS1	ECHS1	SPRY4	ATL1	MT-ATP6	ARSI	SLC19A3	COX15	REEP2	SPAST	SPART	DDHD1	WDR11
HP_PARAPLEGIA_PARAPARESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARAPLEGIA_PARAPARESIS	UBAP1	PNPLA6	SPG7	MECP2	SELENOI	OPA1	CLTC	GIPC1	NDUFA13	SLC2A1	ABCD1	GBA	DNM1L	FA2H	WASHC5	AP4B1	CKAP2L	FAR1	NT5C2	USP8	KIDINS220	SRPX2	ASAH1	FARS2	ENTPD1	GPT2	CYP7B1	AIFM1	CHCHD10	SLC19A3	TACR3	PNP	WDR45	NF1	SDHA	WDR48	PAX3	MICOS13	ALDH18A1	NDUFAF5	ERCC3	INTS8	NDUFA10	MTHFR	MPLKIP	LAMB1	CCDC88C	OPA3	NDUFS2	TECPR2	NDNF	IDUA	FOXRED1	CCT5	CPT1C	FEZF1	SURF1	CYP27A1	KPNA3	KIF5A	ATP13A2	GTF2E2	RASA1	ARL6IP1	TBCE	HPDL	NIPA1	KY	AP5Z1	EDNRB	NDUFV1	VCP	RNASEH2C	GBA2	IFIH1	TACO1	PLP1	SLC33A1	ARG1	MTPAP	SQSTM1	RNASEH2B	C19orf12	PPP1R15B	SEMA3A	SAMD9	MAG	RTN2	HS6ST1	NDUFS4	B3GALT6	AP4S1	CHD7	AFG3L2	PET100	C9orf72	AP4E1	AP4M1	SPG21	NOTCH2NLC	TNFRSF11A	GJC2	GAN	MTRFR	GJA1	IL17RD	DUSP6	PEX3	GTF2H5	AMPD2	DDHD2	TARS1	FLRT3	REEP1	VPS37A	RAB3GAP2	ANOS1	BSCL2	CYP2U1	FGF8	SOX10	ERCC2	ZFYVE26	TTC19	PAH	VAMP1	SP110	SAMHD1	NDUFS8	KIF1A	PDHX	ALS2	NDUFAF6	PI4KA	ERLIN2	NDUFV2	IBA57	DCC	ADAR	SETX	NDUFA4	TARDBP	NDUFS3	ZFYVE27	FLRT1	FGF17	SDHB	PRPS1	NDUFA9	HESX1	POLG	KLC2	PROKR2	NAGS	KDM5C	NDUFAF2	SLC30A10	SLC25A15	COASY	STXBP1	FGFR1	LIPT1	TOE1	MTFMT	WDR45B	L1CAM	RNF113A	FUS	HSPD1	MAN2B1	CCDC141	GOT2	NDUFA12	GALC	DSTYK	ZFR	TBK1	MARS1	BTD	MED13L	CAPN1	SLC16A2	ATRX	SPART	CACNA1D	UCHL1	GBE1	HACE1	LYST	SPG11	TRMT10A	TFG	NDUFS7	B4GALNT1	PDHA1	PEX16	FUZ	TTR	PGAP1	ADGRG1	PROK2	NDUFA2	NDUFS1	ECHS1	AIMP1	SDHAF1	SPRY4	ATL1	GJB1	ATP6AP2	MT-ATP6	SDHD	RNASEH2A	ARSI	TREX1	COX15	REEP2	SPAST	BCOR	DDHD1	POLR3GL	WDR11
HP_OCULOGYRIC_CRISIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCULOGYRIC_CRISIS	GRIN1	SETD1B	CACNA1I	CAMK2B	MED12L	PRICKLE2	KCNQ5	MBD5	ZMYND11	CIC	PCBD1	CDH15	TRPM3	KIF1A	PTS	DLL1	ASH1L	NBEA	CUX1	KIRREL3	CLTC	CAMK2A	HIVEP2	DDC	DOCK8	RAB11A	TCF4	SLC6A3	CHAMP1	PPP3CA	CSNK2B	DEAF1	DNAJC12	TH	DNM1L	TSPOAP1	EPB41L1	GRIN2B	BRSK2	SET	EEF1A2	SPR	ERBB4	SYNGAP1	MYT1L	ATP13A2	TAOK1	CACNG2	SLC18A2	DYNC1H1	KDM5B
HP_CUTANEOUS_FINGER_SYNDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTANEOUS_FINGER_SYNDACTYLY	ORC1	CHUK	HOXD13	DCHS1	LEMD3	WDR19	IRF6	PAX3	SMO	NECTIN4	KCTD1	CHSY1	PIEZO2	NOG	FGFR2	KAT6A	MEGF8	CCBE1	NECTIN1	FAT4	FRAS1	LMBR1	GLI3	TP63	LRP4	ROR2
HP_OVERLAPPING_FINGERS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVERLAPPING_FINGERS	MOGS	EBP	SETBP1	ALG12	FLNA	MED25	TPM2	MADD	TMEM94	TNNI2	MYH3	KIAA1109	DOK7	TNNT3	OTUD5	NALCN	SAMD9	PPP1R21	COG7	EVC	EVC2	CHST11	PI4KA	PRKDC	BICD2	MYOD1	NEK9	MECOM	ATN1	MYBPC1	CNTN1	PTF1A	CTU2
HP_KELOIDS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KELOIDS	COL7A1	EP300	CREBBP	ATP7A	MAP3K7	APC	LEMD3	FLNA
HP_BIFID_EPIGLOTTIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIFID_EPIGLOTTIS	DYNC2H1	DYNC2I2	GLI3	IFT80	FOXE1	WDR35	DYNC2I1
HP_APLASIA_HYPOPLASIA_OF_THE_EPIGLOTTIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_EPIGLOTTIS	PRRX1	C2CD3	SETBP1	EIF4A3	GLI3	NEK1	FGF10	SF3B4	FGFR3	FGFR2
HP_HAMARTOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAMARTOMA	NF1	SEC23B	CDC73	SUFU	PIK3CA	RET	TMEM216	BRAF	AKT1	GLI3	KANSL1	CDKN1B	SMAD4	SDHAF2	VPS16	SLC25A11	DYNC2LI1	FAT4	KRT10	TSC2	OFD1	KRT1	FAM149B1	TFAP2A	APC	KLLN	ADAMTS3	ACTB	KIAA0753	GCDH	TSC1	NF2	SIX6	PTEN	KIF7	COL18A1	DLST	STK11	SMO	SDHC	TCTN3	VHL	NEK9	IDH1	BMPR1A	PTCH2	MSH6	CCND1	NRAS	SDHD	PCGF2	PDE6D	SOX2	PTH1R	PTCH1	CCBE1	FGF3	MAX	FH	FGFR3	MDH2	SDHB	CPLANE1	TOPORS	KIF1B	SDHA	IFNG	TMEM127	CDK4	DIS3L2	HRAS	MSH3	MVK	ACVR1	USF3	IDH2	GREM1
HP_HAMARTOMA_OF_THE_EYE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAMARTOMA_OF_THE_EYE	NF1	SDHB	SEC23B	TSC2	SDHD	PIK3CA	VHL	TSC1	RET	KIF1B	NF2	SDHA	DLST	SDHC	IFNG	PTEN	TMEM127	SDHAF2	SLC25A11	AKT1	KLLN	MAX	KRT10	FH	KRT1	MSH6	CCND1	USF3	MDH2
HP_DYSPLASIA_OF_THE_FEMORAL_HEAD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSPLASIA_OF_THE_FEMORAL_HEAD	HSPA9	IHH	COL2A1	TRAPPC2	B3GALT6	MTX2
HP_ABSENT_EPIPHYSES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_EPIPHYSES	CHST3	TRPV4	KIF22	HS2ST1	RNU4ATAC	IFT140	LONP1	CANT1	TRAPPC2	COMP	SMARCAL1	PLOD3	CDC6	PIK3C2A	EXTL3	DYM	COL11A2	MATN3	COL2A1	ADAMTSL2
HP_CONE_SHAPED_EPIPHYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONE_SHAPED_EPIPHYSIS	FGF9	CENPJ	SMAD4	OFD1	RUNX2	GDF5	NOG	FGFR3	PIK3CD	ATR	COMP	SRCAP	DYNC2I1	TTC21B	COL2A1	FBN1	NUP85	KIAA0586	CEP164	IHH	CEP152	DYM	AIFM1	IFT172	IFT140	INVS	PRKAR1A	ATRIP	TRIP11	CEP120	ZMIZ1	BGN	DYNC2H1	RSPRY1	KNSTRN	BMPR1B	PDE4D	MAP3K7	TRPS1	EVC2	PLK4	NPHP3	COG4	FLNA	NEK1	RMRP	CENPE	PCNT	MRPS28	EVC	WDR19	DYNC2LI1	GPX4	MIR140	POC1A	NPR2	SDCCAG8	DYNC2I2	EIF2AK3	NPHP4	KIF15	MIA3	SHOX	TRAIP	NPHP1	NSMCE2	EXT1	PDE3A	IFT80	CSPP1	TRAF3IP1	IFT52	RBBP8	CEP290	IQCB1
HP_ENLARGED_EPIPHYSES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_EPIPHYSES	COL2A1	CYP2R1	CLCN5	TRAPPC2	GDF5	SLC34A3	VDR	CCN6	COL11A2	CYP27B1	PIK3R1	COL10A1	CKAP2L	NKX3-2
HP_IRREGULAR_EPIPHYSES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRREGULAR_EPIPHYSES	SIK3	KIF22	RNU4ATAC	PEX5	DYM	COL2A1	CHST3	TRAPPC2	UFSP2	COMP	SLC26A2	MATN3	COL9A2	NANS	COL9A1	NMNAT1	CDC6	ACAN	COL11A1	RPL13	ADAMTSL2	TRIP11	COL9A3
HP_IVORY_EPIPHYSES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IVORY_EPIPHYSES	PCYT1A	ERCC6	ATR	TRPS1	ERCC8	PCNT	EIF2AK3	TONSL
HP_PSEUDOEPIPHYSES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSEUDOEPIPHYSES	BMPR1B	SALL1	HOXA13	PCNT	KCNH1	CTBP1	PTH1R	MAP3K7	NSD2	GDF5	CPLX1	FGFRL1	RPS6KA3	NPR3	RAB23	LETM1	NKX3-2
HP_SMALL_EPIPHYSES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_EPIPHYSES	RTL1	CHST3	KIF22	TONSL	DLK1	COMP	MMP13	RSPRY1	MATN3	COL2A1	MEG3	SLC10A7	COL9A2	NANS	COL9A1	TMEM67	RMRP	AIFM1	RNU4ATAC	EIF2AK3	COL11A1	TRIP11	COL9A3
HP_TYPE_2_MUSCLE_FIBER_PREDOMINANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPE_2_MUSCLE_FIBER_PREDOMINANCE	CLCN6	KY	ALG14	COQ5	DYNC1H1
HP_SKIN_TAGS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_TAGS	UBE3B	FGF3	SUFU	CCDC22	ALX1	CPLX1	FGFRL1	KDM6A	MED13L	SIX1	PTEN	RIPK4	AKT1	SNRPN	EFTUD2	GPC3	FLCN	HNRNPU	POLR1D	TCOF1	FLNB	PTCH1	LETM1	KMT2D	SALL1	EDNRA	MED12	WASHC5	CTBP1	PIGS	NAA10	FN1	GNAI3	EYA1	POLR1C	ANTXR1	PLCB4	TASP1	TXNL4A	PUF60	GPC4	COL2A1	NSMCE2	TMEM260	ANKRD11	CTNND2	ODC1	B3GLCT	IRX5	SF3B4	PRMT7	CHD7	FGFR1	DACT1	SEMA5A	ALX3	ARID1B	STAG2	PIK3CA	LRP5	SEMA3E	WBP11	VPS13B	POLR1B	FGFR2	EDN1	NSD2	SALL4	SIX5	BCOR	EXT2	MSL3	PTCH2	MAFB	SVBP	CHN1	KIF7
HP_PALMAR_PITS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALMAR_PITS	SUFU	PTCH1	PTCH2	ATP2A2	KRT5	CIB1	PSENEN	POGLUT1	POFUT1
HP_ANGIOFIBROMAS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANGIOFIBROMAS	HRAS	SEC23B	MLH1	SDHD	PIK3CA	MEN1	TSC1	NRAS	MSH2	MSH6	CDKN2B	CDKN1B	KRAS	SDHC	IFNG	TSC2	PLCD1	PTEN	SDHB	CDKN2C	AKT1	KRT17	KLLN	CDKN1A	USF3
HP_FIBROADENOMA_OF_THE_BREAST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FIBROADENOMA_OF_THE_BREAST	FASLG	PRKAR1A	PRKACA	PRLR	PDE11A	PDE8B	FAS	RASGRP1	PTEN	APC	AKT1	PRKCD	CASP10
HP_MALAR_PROMINENCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALAR_PROMINENCE	LAS1L	NSMCE2	HDAC8	XRCC4	NBN	HBB	CTDP1
HP_CUTANEOUS_SYNDACTYLY_OF_TOES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTANEOUS_SYNDACTYLY_OF_TOES	FGF9	MYH8	SLC39A8	SMO	CREBBP	SMARCAD1	NECTIN4	RPL10	MECP2	NECTIN1	EP300	SVBP	BCOR	DYRK1A	NOG	MCTP2	GJA1
HP_NEOPLASM_OF_THE_SKELETAL_SYSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_SKELETAL_SYSTEM	APC	RPL15	RB1	RAD21	FGFR1	COL2A1	GATA1	ADAR	MLH3	TGFBR2	EXT2	RECQL4	SQSTM1	TSC2	SOX6	IDH1	POLR1C	RPL18	RPS17	RPS7	MSH2	COL14A1	KRAS	PMS1	RPS28	EXT1	RPL35	CHRNG	CHEK2	RPS19	MLH1	RPL11	TSC1	SHOX	NR4A3	RPL5	PTEN	FGFR3	POLR1B	AAGAB	ANAPC1	PHF21A	RPL26	RNASEH2C	TAF15	RPS27	ATP7A	IFIH1	TCOF1	GLI3	RNASEH2B	RPS24	COL11A2	MSH6	PTH1R	RPS20	POLR1D	WRN	ADA2	RPL27	BMPR1A	LMNA	SEMA4A	RPL35A	FAN1	RPS10	IPO8	CDKN2A	TP53	RPS26	RPL31	ALX4	EPCAM	RPS15A	PMS2	RPS29	PRKAR1A	IFNG	IDH2	GNAS	MSX2	PTPN11	TSR2	MDM2	ACAN	PIK3CA	TRPS1	RNASEH2A	MTAP	TREX1	ACP5	PORCN	AKT1	SAMHD1
HP_APLASTIC_HYPOPLASTIC_TOENAIL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASTIC_HYPOPLASTIC_TOENAIL	EOGT	MLXIPL	GPC4	DKC1	PIGF	SLC35D1	ARID2	CKAP2L	ELN	DLL4	DPH1	RIPK4	USB1	EVC	TMEM270	GTF2I	APC	EZH2	NCF1	ATP6V1B2	NECTIN4	MSX1	KCNH1	RFC2	PPP2R5D	LIMK1	KDM1A	DPF2	EIF4H	INPPL1	LIG4	CPT2	FKBP6	TBC1D24	ODC1	STX1A	TBX3	SMARCD1	DOCK6	BAZ1B	SMARCA4	CTC1	EVC2	SUZ12	GLI1	TCTN3	KRT14	GDF5	BUD23	TERC	CRKL	LBR	DNAJC30	TBX4	COL7A1	BCR	GTF2IRD2	COL11A1	SOX4	EED	SMARCB1	ARHGAP31	NOP10	VPS37D	SMARCC2	NPM1	SHANK3	SOX11	BCL7B	ARID1A	HRAS	PPP1CB	FGFR1	NOG	SMARCA2	DSP	DYNC2LI1	JUP	SHOC2	RTEL1	HOXA13	ZMYM2	SHOX	NOTCH1	SMARCE1	TELO2	NSD1	NSUN2	ARID1B	TINF2	WRAP53	MAPK1	TERT	PORCN	EIF5A	METTL27	TBL2	CLIP2	KCNN3	RBPJ	AFF4	GTF2IRD1	NHP2	PARN	LRP4	WNT7A
HP_ANTERIOR_PITUITARY_DYSGENESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_PITUITARY_DYSGENESIS	SOX3	TBX3	ARNT2	NONO	GHRHR	MADD	GLI2	LHX4	SOX2	LHX3	SNRPN	PROP1	HESX1	FGFR1	SIX3	NDN	VANGL2	ZSWIM6	OTX2	OCA2	TTC26	MAGEL2	SIX6	POU1F1	PROKR2	RBM28	GATA6	FOXA2	DMXL2	MTHFR
HP_ANTERIOR_PITUITARY_AGENESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_PITUITARY_AGENESIS	GATA6	POU1F1	FOXA2	HESX1	GLI2	OTX2	SIX3	LHX4	PROP1
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	COL9A2	COL9A1	EIF2AK3	ARSL	COL9A3	MATN3
HP_SCHIZENCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCHIZENCEPHALY	SHH	EPG5	WDR62	COL4A1	TUBB2B	SIX3	COL4A2	EMX2	WNT1
HP_ELEVATED_ALKALINE_PHOSPHATASE_OF_BONE_ORIGIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_ALKALINE_PHOSPHATASE_OF_BONE_ORIGIN	DMP1	CYP27B1	ABCC6	CTNS	ENPP1	SLC34A1	CYP2R1	CCDC115	SLC34A3	NPR3	VCP
HP_ABNORMALITY_OF_THE_NASAL_CAVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_NASAL_CAVITY	GLI2	CDON	ZIC2	GAS1	PTCH1	FOXH1	FGF8	SHH	SUFU	NODAL	TGIF1	TDGF1	DISP1	SIX3	FGFR1	DLL1	GLMN
HP_CERVICAL_SPINE_INSTABILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVICAL_SPINE_INSTABILITY	COMP	COL2A1	BGN	TGFB3	ARSL	POP1	SMAD3	B3GALT6	TGFBR1
HP_ABNORMAL_ELASTICITY_OF_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ELASTICITY_OF_SKIN	TP53	ELN	MLXIPL	TGM1	RTEL1	ALDH18A1	GSN	PLOD1	TWIST2	ABCA12	CSTA	GBA	ALG8	COL1A2	BRAF	FGFR3	FIG4	GTF2I	EZH2	NCF1	PITX2	XYLT1	PDE8B	LIMK1	MEGF8	YY1	EIF4H	COL5A2	ANTXR1	VAC14	MAN1B1	ALG12	FBLN5	TGM5	ZMPSTE24	SLC2A10	DLG4	WDR19	ALOXE3	ZNF469	NDUFB10	FGF10	EXOC6B	LZTR1	SLC39A13	USP8	WRN	RIN2	TGFBR2	GORAB	FKBP14	SUZ12	FGFR2	TNXB	CUL4B	LMNA	LTBP1	SMAD3	TERT	ATP7A	CHST3	SLC25A24	OSMR	BCL11B	NIPAL4	HPGD	GPX4	ABCC6	EDA	TBL1XR1	EED	NAA10	B4GALT7	CDH23	AEBP1	SHOC2	WDR35	TBX15	EFEMP2	ATP6V1A	MTX2	BCL7B	FBN1	SKI	KMT2C	B3GALT6	NPR2	COL5A1	ALOX12B	COPB1	SLC6A8	TGFBR1	RIT1	HRAS	DSE	PDGFRB	ABL1	KCNN3	AIP	CD96	SLC7A7	NEPRO	PRKACA	EXT1	POLD1	XYLT2	ARMC5	GNB2	RAF1	FLNA	IFT43	COL3A1	PRKAR1A	CSPP1	GNAS	ACD	COL12A1	PTDSS1	METTL27	TBL2	NDUFB11	C1S	FOXC1	RPS6KA3	TRIP4	EHMT1	LTBP4	PAH	RTL1	SPEN	FGD1	GGCX	COL1A1	SMARCA2	ENPP1	KIAA0586	MAP2K1	MAP2K2	INSR	TMEM270	SPARC	RFC2	ATP6V0A2	SMARCD2	FGF20	B3GAT3	KIF22	FKBP6	SRD5A3	STX1A	MAPRE2	PTPN11	BAZ1B	OTUD5	MEG3	PUF60	SDR9C7	B4GALT1	SON	CHST14	KRAS	MAN2B1	MICU1	ADAMTS2	ADAMTSL2	BUD23	WDR37	MRAS	NBAS	DNAJC30	ATP6AP1	GTF2IRD2	KCNH1	PDE11A	MGP	PARN	DKC1	AKT3	VPS37D	DLK1	MRPS22	ATP6V1E1	SPINT2	CYP4F22	PEX1	PAX2	MRPS16	PIK3R1	SULT2B1	SLC26A2	LIPN	TGFB2	IPO8	CFTR	TINF2	TUBB	IARS1	PYCR1	NSD1	PTEN	ATP6AP2	PIGQ	PRDM5	C1R	SMARCAD1	CLIP2	TRPS1	SH3PXD2B	GTF2IRD1	ATP6V1B2	MTAP	CEP55	COG7
HP_DERMAL_TRANSLUCENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DERMAL_TRANSLUCENCY	SLC25A24	ELN	IARS1	COL5A1	FBLN5	TGFBR2	B3GALT6	ALDH18A1	COL1A2	TGFBR1	ZMPSTE24	LMNA	COL3A1	SMAD3	PYCR1	COL1A1	PPP1CB	CHD1	POLR3A
HP_FLAT_NASAL_ALAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLAT_NASAL_ALAE	ERCC4	ERCC5	ERCC2	ERCC3	XPC	XPA	PTCH1	DDB2
HP_ABNORMAL_MENINGEAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MENINGEAL_MORPHOLOGY	SACS	NDE1	SUFU	PTCH1	TGFBR1	COMT	RTTN	TMEM216	MAT2A	KANSL1	INPP5E	SHH	POMT2	FUZ	SIX3	ABCC6	EBP	PUS3	TGIF1	STAG2	H19	TMEM231	TBX1	VANGL1	LOX	CDON	ALG9	FOXH1	DLL1	HES7	DDR2	FGF8	FGFR1	ZIC2	MESP2	ARVCF	GLI2	RASA1	TGFBR2	UFD1	SMAD3	FRAS1	PTCH2	NEK1	SC5D	TDGF1	MFAP5	ARID2	WAC	NOTCH3	HIRA	GAS1	FREM2	CEP290	XPNPEP3	SHANK3	STIL	SMC1A	VANGL2	CCL2	WNT7A	LFNG	TGFB2	COL11A1	NF1	SCN1A	FLNA	NODAL	TBXT	TGFB3	CSPP1	DISP1	PORCN	SEC24C	MYH11	FKTN	SNRPB	IGF2	PKD1	FBN1	GANAB	ADAT3	POMT1	PI4KA	ELN	GMPPB	SCN2A	KIAA0586	FOXC2	DACT1	PAX3	PPP2R5D	B3GALNT2	ZSWIM6	PRKG1	RIPPLY2	PKD2	ACTA2	OFD1	FKRP	OTUD5	PUF60	SON	FGFR2	BMPER	ATP6AP1	KRAS	JMJD1C	DLL3	BICC1	NRAS	GJA1	SH2B1	SMAD4	SMAD2	LARGE1	SIN3A	FOXE3	DNAJB11	POMGNT1	NARS1	MYLK	TTR	GPSM2	ALX4	ZNFX1	HEY2	MSX2	RREB1	GRIP1	KCNQ1OT1	GP1BB	DNAJC19	GLI3
HP_ABNORMAL_DURA_MATER_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DURA_MATER_MORPHOLOGY	DLL1	GLI2	NDE1	SUFU	PTCH1	TDGF1	NODAL	GAS1	SHH	FOXH1	STIL	ZIC2	SIX3	ABCC6	SMC1A	TGIF1	STAG2	FGFR1	CDON	COL11A1	DISP1	FGF8	DDR2	PTCH2
HP_EPIPHYSEAL_STIPPLING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIPHYSEAL_STIPPLING	RTL1	MGP	PEX1	PEX26	PEX12	PEX7	PEX14	ARSL	PEX6	VPS35L	PEX10	DLK1	GUSB	PEX11B	MEG3	PEX3	DDR2	AGPS	BMPR1B	PEX16	PEX2	EBP	NEU1	DHCR7	GGCX	PEX19	PRKAR1A	NSDHL	LBR	PEX13	SNRPB	THRB	FLNB	GDF5	PEX5	PDE4D
HP_ABNORMAL_EPIPHYSEAL_OSSIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EPIPHYSEAL_OSSIFICATION	RTL1	PEX1	DDRGK1	VPS35L	PEX10	COMP	CYP27B1	PEX11B	TSHB	KIAA0586	PEX3	ARSL	EBP	PTH1R	DYM	CYP2R1	PISD	PEX13	THRB	PRKAR1A	PEX5	MGP	PROP1	KIF22	PEX26	COL2A1	PEX7	TSHR	PEX6	KCNH1	MEG3	DDR2	AGPS	BMPR1B	TRPV4	NEU1	CLCN5	VDR	LBR	TG	FLNB	RNU4ATAC	COL9A3	PEX14	GPX4	TRAPPC2	MIR140	SLC34A3	LHX4	LHX3	DUOX2	HESX1	GUSB	PEX16	PEX2	B3GALT6	TPO	GGCX	PEX19	IYD	GDF5	MATN3	PEX12	TONSL	DLK1	DUOXA2	CSPP1	CYP19A1	POU1F1	KIF7	SLC5A5	ESR1	DHCR7	NSDHL	SNRPB	PDE4D
HP_PATCHY_CHANGES_OF_BONE_MINERAL_DENSITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATCHY_CHANGES_OF_BONE_MINERAL_DENSITY	SQSTM1	MTAP	LBR	TBCE	GJA1
HP_ABNORMAL_HAND_BONE_OSSIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HAND_BONE_OSSIFICATION	TRIP11	CANT1	GPC4	CHST3	BGN	XYLT1	SUFU	SETD2	MBTPS1	SLC34A2	LONP1	B3GALT6	FLNB	PIGV	EXTL3	FLNA	IHH	GPC3	MATN3	COL2A1	LEMD3	PTH1R	SLC10A7	DDR2	PTCH1	BMPR1B	HOXA13	ABCC6	SLC35D1	EBP	ARSL	TONSL	RMRP	UFSP2	PTCH2	ENPP1	TRPV4	GDF5
HP_ABNORMALITY_OF_THE_DIENCEPHALON	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_DIENCEPHALON	NDE1	MLXIPL	PTCH1	DCC	TMEM216	POMGNT1	GLI3	GSX2	SHH	ELN	ZIC2	TMEM270	GTF2I	SIX3	CP	NCF1	VPS16	SCO2	FGF17	TGIF1	RANBP2	RFC2	SURF1	STAG2	TACR3	LIMK1	OFD1	STIL	HESX1	CDH2	CDON	EIF4H	FAM149B1	PROKR2	TREM2	BAP1	GLI2	FKBP6	SIM1	KIAA0753	JAM2	CLN8	FGF8	STX1A	POMT2	SMARCE1	FGFR1	NF2	NDNF	SIX6	KIF7	FOXH1	DLL1	TRH	FEZF1	BAZ1B	POMT1	GAS1	SMO	TRAF7	POMK	CCDC141	TWNK	BUD23	FTL	EXOC7	DNAJC30	AKT1	DISP1	NODAL	TDGF1	MFF	GTF2IRD2	TCTN3	FKRP	PDE6D	SOX2	VPS37D	SEMA3A	CTNNB1	POLG	BRAF	COASY	BCL7B	HS6ST1	SCP2	NDP	SMC1A	CHD7	SPG11	TUBB3	SMARCB1	GMPPB	PIK3C2A	ANOS1	LHX3	CPLANE1	TOPORS	MTRFR	SUFU	GPKOW	IL17RD	DUSP6	NDUFS2	SETD5	NDUFB8	FLRT3	LEPR	PROK2	PTCD3	GTPBP3	SPRY4	COX10	SLC2A1	TERT	METTL27	TBL2	CLIP2	PDGFB	SOX10	NDUFAF3	GTF2IRD1	MAGEL2	PIK3CA	WDR11	EXOC2
HP_ABNORMALITY_OF_THALAMUS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THALAMUS_MORPHOLOGY	MFF	NDE1	MTRFR	SUFU	FKRP	JAM2	CLN8	NDUFS2	DCC	SETD5	POMT2	NDUFB8	SMARCE1	PTCD3	NF2	POMGNT1	POLG	GSX2	BAP1	GTPBP3	COASY	POMT1	COX10	SLC2A1	TRAF7	POMK	TERT	CP	SCP2	SCO2	PDGFB	SMO	RANBP2	SURF1	PTCH1	TWNK	NDUFAF3	FTL	TUBB3	SMARCB1	GMPPB	EXOC7	PIK3C2A	AKT1	TREM2	PIK3CA	EXOC2
HP_BILATERAL_COXA_VALGA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_COXA_VALGA	CCDC47	COL9A2	MAN2B1	TGFB3	COL9A1	COG8	COL9A3	PDE4D	STXBP1	LMX1B
HP_ABNORMALITY_OF_THE_ZYGOMATIC_BONE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ZYGOMATIC_BONE	CANT1	FAM50A	SMAD4	MLXIPL	OFD1	COMT	FLNB	COL2A1	ROR2	TWIST2	ESCO2	TAT	AMMECR1	HBB	GTF2I	PEX12	APC	NCF1	LARP7	ZNHIT3	SIX3	LIMK1	YY1	NSMCE2	NECTIN1	PYCR2	EIF4H	PRKAR1A	COL11A2	TFAP2A	RUNX2	POLR1C	TBX22	TBX1	MAN1B1	LIFR	PEX7	USB1	FGFR3	CTDP1	LMNA	NF1	XRCC4	KCNH1	RSPRY1	FGFR2	HSPG2	HDAC4	DDR2	SEMA3E	NSDHL	BMP2	ARVCF	OBSL1	TGFBR2	CHD7	GORAB	LRP2	NOTCH2	UFD1	NGF	BBS7	CRKL	COG4	CCBE1	CILK1	FOXP1	SMAD3	CNOT1	TBX4	BRAF	TP63	PIGT	EHMT1	LRPPRC	NONO	CA2	DHODH	TBL1XR1	NOTCH3	TFAP2B	HIRA	POR	POLR1D	ACSL4	ATP6V1A	SF3B4	SHANK3	BCL7B	POU1F1	FOXC1	B3GALT6	NDP	COL5A1	MECP2	SLC6A8	TGFBR1	TONSL	SP7	ACAN	FAM20C	NPR3	RAI1	RPS26	COL11A1	POLR3A	PTH1R	FLNA	CUL7	HERC1	SOST	PDE4D	ATRX	AGL	TMEM165	GSC	PIGV	POGZ	MAPK1	LAS1L	GATA1	RAB3GAP1	SEC24C	METTL27	TBL2	PSMC3	RAB3GAP2	FGFR1	FAT4	SNRPB	COL9A3	LTBP4	PRMT7	HBA1	MYH3	STAG2	FBN1	DCHS1	SLC35D1	EFTUD2	NFIX	ELN	ERF	MAP2K1	TMEM270	MAN2B1	RFC2	PQBP1	AIFM1	INPPL1	GPC6	RDH11	BUB1B	MGP	KIF22	CNOT3	SLC26A2	PAX3	SETD2	FKBP6	ZBTB20	STX1A	COL9A2	BMP4	SCARF2	HBA2	TWIST1	BAZ1B	RAB23	GLI2	SHH	TGDS	VPS13B	KRAS	BLM	EBP	POLR1B	BUD23	POLE	LBR	SATB2	DNAJC30	ARID1B	SLC2A10	TCOF1	JMJD1C	HDAC8	BCR	GTF2IRD2	PCGF2	RHOA	COL9A1	SEC23A	PLOD3	POMGNT1	VPS37D	MAF	COL1A1	LOXL3	NBN	DVL1	KIF1A	ATP6V1E1	PEX1	PIK3R1	ASXL3	MAP2K2	TFE3	ATP6V0A2	PIGU	PEPD	NTRK1	PIGA	CDH11	SETBP1	PYCR1	KIF7	MED12	RLIM	UBE2A	DLG3	ADAMTSL4	GRIA3	FZD2	RREB1	DNMT3B	CLIP2	KCNE5	GP1BB	WNT5A	TMEM237	GTF2IRD1	RBM8A	BGN	LRP4	RNU4ATAC	SERPINH1	KCNJ2	MBD5
HP_HYPOPLASIA_OF_THE_ZYGOMATIC_BONE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_ZYGOMATIC_BONE	MLXIPL	GTF2IRD2	FKBP6	OFD1	COL11A1	STX1A	SF3B4	CHD7	TWIST2	VPS37D	BAZ1B	POLR1D	ELN	SEMA3E	VPS13B	BCL7B	MAP2K1	TMEM270	GTF2I	KRAS	NCF1	METTL27	NECTIN1	TBL2	CLIP2	POLR1B	RFC2	NOTCH2	BUD23	GTF2IRD1	LIMK1	FGFR2	EIF4H	MAP2K2	DNAJC30	RUNX2	CNOT1	POLR1C	TCOF1	PEPD	BRAF
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	LMNB2	AGRN	PYROXD1	CACNA1I	DDRGK1	NALCN	XYLT1	SALL4	RRAS	COL1A2	DPM2	RAC3	GPC3	CDC42	IL6ST	RYR1	SNRPN	BCOR	FLVCR1	HSPG2	CHRNE	SPRTN	TGIF1	CEP41	SOS1	MED27	SELENON	RUNX2	TGFB1	IGHMBP2	ERCC3	FANCF	EXOSC5	ERCC4	MORC2	FANCD2	RBM10	GTPBP2	MYH7	KRAS	IRF6	CTSK	CHRNG	MYT1L	TBCD	CTC1	LAMA2	RNF13	NEFL	COLQ	ASAH1	EMC10	TOGARAM1	CDON	SYNJ1	TNNI2	TRIP12	SDHD	TPM3	MED25	SH3TC2	NAA10	SMARCB1	MEG3	STAT3	WIPI2	CENPT	SGCG	RMRP	MAD2L2	FANCA	PTCH1	SMARCA4	MAPT	TGFBR1	DHX37	FBXW11	DDX6	PIK3C2A	TCF20	LHX3	BRAF	RAI1	TRAPPC11	RTEL1	CD96	CHAMP1	FLNA	PSAT1	SIX3	SLC39A14	SOX5	TMEM94	BRF1	RTL1	TARS1	POLA1	TONSL	SMS	ARID1B	DEGS1	SEMA5A	SYT1	ALX3	GBA2	DISP1	RLIM	ZDHHC9	NPR2	KCNN3	TGFBR2	GNPTAB	RAB3GAP2	NKX6-2	DYRK1A	USF3	RPL13	OCA2	ALMS1	DNMT3A	SLC35A3	PLOD1	SPEN	NEDD4L	LONP1	PLAA	CHRM3	POMGNT1	LEMD3	GNAS	ELN	RAB3GAP1	VPS13B	TBX1	FLRT1	KCNH1	FKTN	MYPN	ZMPSTE24	COL2A1	ATAD3A	QRICH1	FGFR3	COL1A1	DDHD1	MEGF8	DPAGT1	NDN	CEP104	FGF8	DNM2	HPDL	SLC26A2	CDK19	SET	RUSC2	SMARCD1	SPATA5	GLIS3	CSGALNACT1	GDF3	STAC3	RETREG1	BMPR1B	GAS1	ERCC6	FKRP	MAGEL2	COL13A1	KLLN	BUD23	TERC	COL6A2	PMM2	FANCE	BICD2	ALG6	DNAJC30	DNA2	CHRND	PUS7	TLK2	SPATA5L1	FLI1	SETD1B	CNP	SYNCRIP	HSPD1	KLHL41	PTEN	LRP5	FOXRED1	SLC16A2	DEAF1	GUSB	PHF8	CRLF1	AGO2	EMC1	HACD1	MASP1	CBS	PIGT	ERCC8	RAB11A	CSPP1	DSTYK	ACAN	MECP2	ACTA1	EP300	TRPV4	DVL3	SPTBN1	ITGA7	CHST3	TELO2	SHH	PIGQ	PRDM5	C1R	HNRNPK	PAX3	KAT8	KCNQ1OT1	CACNA1G	SGCA	BRCA1	MYOD1	PYCR2	POLR3GL	YIF1B	SUPT16H	ALDH18A1	ATP6V1B2	FLNB	MKS1	COMP	KDM4B	AIP	FIG4	EBP	KIF1A	CYP7B1	CTBP1	STAG2	MBTPS2	CEP152	ACTG1	FGFR2	CC2D2A	TFAP2A	COL12A1	ZMIZ1	ALG12	PEX7	RAPSN	DDX3X	AMER1	TPM2	CYP27A1	SEMA3E	PIGL	RIN2	SHOX	SCUBE3	TNRC6B	UFD1	EMD	GORAB	SEC24D	CCBE1	POMT1	CENPE	EGR2	DACT1	SYT2	MFN2	TRAPPC2	LMNA	KCNAB2	PPP1R15B	FHL1	NPM1	CIC	GLI2	COG1	MYH3	NUP107	MUSK	WASHC5	OCRL	IHH	DSE	ACTL6A	FN1	TANC2	MSTO1	VPS37A	GAN	SETD5	SETBP1	B9D1	MAP3K7	HGSNAT	NSUN2	TNFRSF11B	MYL2	RAB23	TGFB3	ELP1	MPZ	MAPK1	NRAS	NEB	SNRPB	NODAL	HS2ST1	AFF3	SRCAP	CPLX1	PAX6	MESP2	DCC	H1-4	VAMP1	ANKRD11	MEGF10	BPTF	NEK9	KCNA1	SPTBN4	SCN4A	DPP6	GMPPB	KATNIP	PGAP3	BIN1	PAFAH1B1	DLL3	HLA-B	LZTR1	BAZ1B	DUX4	FAM126A	ERMARD	PLK4	PMP22	SIN3A	HTRA1	GPR101	ATP6V0A2	ROR2	ALDH3A2	CLCF1	SEC23A	GJC2	WNK1	COQ4	HYLS1	NOP10	ABCB7	UBE2T	TRAPPC12	SCN9A	PRUNE1	CHST14	FBLN5	MED12L	ARL3	POU4F1	ASXL3	FBN1	ATN1	INTS1	B4GALNT1	NFIX	ROBO3	ZMYM2	TRAIP	FOXG1	TK2	SF3B4	NSD1	RFWD3	PLOD2	B3GLCT	CASK	MAP1B	FUCA1	DAG1	IQSEC2	CLIP2	GTF2IRD1	TMEM67	OTUD6B	GABBR2	WNT1	ALS2	FLCN	SFRP4	GARS1	HK1	KANSL1	ITGB6	COL6A1	PLEC	CDH15	FXN	GTF2I	ARSL	MTMR2	AHDC1	SATB2	GPC4	MPLKIP	SACS	SLC25A1	LETM1	CANT1	ACTB	FBN2	LOX	FOXH1	GDF6	UBE3A	OBSL1	SYNE2	TMEM216	MYO18B	KY	COL5A2	RNASEH2C	TBX6	SMAD3	PTCH2	IFT172	SBF2	SLC25A24	TBCK	SMC1A	TDGF1	ABCC6	CAMK2B	FUT8	RECQL4	AIMP2	MAPK8IP3	MRAS	HNRNPU	LARP7	ZMYND11	NTNG1	ZEB2	HPGD	NDP	ASH1L	ABL1	MKRN3	NPHP1	CCN6	ATRX	AUTS2	PRDM16	CHD7	FRG1	CEP120	DES	RAB18	VPS53	NSD2	CCDC32	FAT4	TBL1XR1	FKBP14	ARL6IP6	TUBB4A	IGF2	RPGRIP1L	ATP7A	ALG14	SPTLC1	ERLIN2	RERE	KCNJ6	EXTL3	SPEG	LSS	TMEM251	TRRAP	USP9X	SIL1	POMT2	FKBP10	PRPS1	PIEZO1	SLC25A46	PRKG1	LIG4	KIF22	DOK7	MYMK	COQ2	ATR	KCNJ2	SMARCC2	PGAP2	FARSA	DYNC1H1	NONO	ZBTB20	RAD51C	PODXL	PCNT	KDM5B	CDKL5	PPIB	SMARCA2	LAGE3	PLOD3	TRIO	ZIC1	PPP1CB	LMX1B	PIK3CD	NUP88	ADAMTS2	CLTC	TRPS1	GJB1	B4GALT7	ARL13B	SYNE1	CSNK2B	NARS1	MTTP	ARSB	DYM	PAPSS2	SKI	PYCR1	SURF1	SATB1	PRKAR1A	AIMP1	IDH2	TERT	CHRNA1	BRCA2	TBX2	AKT1	AEBP1	NOTCH3	MLXIPL	SUFU	MOGS	ARID2	DNAJC6	MGME1	TBC1D24	APC	H19	VPS33A	COL11A2	TMEM231	HMGA2	PUF60	BGN	KMT2D	TTN	NF1	DLL1	UBE4B	KIF5A	ARVCF	SUZ12	VCP	SNAP25	CREBBP	NOTCH2	NEMF	DLX5	HUWE1	IDH1	SLC12A6	AP1S2	MFAP5	RNASEH2B	FZD2	SOX4	LAMB2	BCAS3	VMA21	POR	MBD5	SAMD9	LFNG	PIGV	RAC1	CUX1	KIRREL3	PLEKHG5	SP7	MYBPC1	MMP23B	GDAP1	NIN	NSDHL	SCN1A	TMEM237	UPF3B	FARS2	AGA	GTF2H5	MGAT2	B3GALT6	RIPPLY2	CHRNB1	WNT3A	COL27A1	SPG7	FAM111B	SAMHD1	MAF	SEC23B	COL10A1	SPG11	CRPPA	RPS6KA3	MVK	FGFRL1	CUL7	HTT	FBXL4	STAG1	CCDC47	MAP2K2	ZIC2	BRIP1	PPP2R5D	AIFM1	INPP5E	DPF2	ATRIP	SSR4	CBY1	SIM1	STX1A	PTPN11	CCDC22	P4HB	GRIN2B	GZF1	EEF1A2	FGFR1	ACADS	MEIS2	ERCC2	CHST11	NEU1	ADAMTSL2	KDELR2	SLC18A3	HINT1	PIEZO2	CAPN1	NGLY1	JMJD1C	SHROOM4	BCR	GTF2IRD2	CCDC8	UBA1	PIGO	DMD	TRMT10A	NKAP	CLCN4	MED12	LUZP1	HES7	RRM2B	TGFB2	COL5A1	EZH2	SHMT2	JAG2	TCTN3	GABRD	TBX5	PPP1R21	PRKG2	IDS	TREX1	JARID2	NTNG2	UNC80	MYO9A	EED	DLK1	MAT2A	HRAS	RIT1	FANCC	MYF5	EIF4H	JAG1	PIGW	LIFR	RNASEH1	TPI1	MYLPF	DYNC2H1	TWIST1	SLC5A7	ERBB4	RSPRY1	RPL10	CRKL	IFIH1	DDX59	RNU7-1	TBX4	JPH1	PTPN23	GOSR2	SNX14	SRD5A3	SMARCAL1	GFPT1	SDHC	STIL	MTMR14	COPB1	KNSTRN	KDM6A	WDFY3	COL6A3	NDUFAF1	PDGFRB	FUS	ECEL1	NDRG1	PIK3CA	BCORL1	NRXN1	MARS2	METTL27	SLCO2A1	TRAPPC4	NPAP1	PPP1R12A	MYH11	TRIP4	TMCO1	ERGIC1	CENPJ	BAG3	CADM3	PRX	GCH1	PIK3R2	BDNF	GALNS	PRKD1	ADAR	GBA	SPARC	MAN2B1	FARSB	LBR	COG8	KMT2E	SLC52A2	BMP1	PPP3CA	FKBP6	TGDS	ERLIN1	POMK	PDCD10	NDUFA12	ZNF469	SLC2A10	TCF7L2	HSPB8	IGBP1	GNE	SOX9	VPS37D	SMAD4	IARS2	SMAD2	SLC25A21	PTDSS1	TCF4	GDF5	TFE3	THPO	EIF2AK3	SNORD115-1	PIGU	TMEM138	MYLK	MESD	TAF1	ATL1	HEY2	XRCC2	SETD1A	RNASEH2A	TRIP11	ACP5	PORCN	TNNT3	LRP4	SERPINH1	TCTN2	PIGG	TTI2	RAF1	MATN3	HGD	KBTBD13	FMR1	FGD1	PRKCZ	HNRNPA2B1	CPLANE1	CTDP1	IDUA	ANTXR1	PHACTR1	NECTIN1	KMT2C	CUL4B	DKK1	VANGL1	PACS1	INPP5K	HIRA	PALB2	UPB1	GRIN1	INPPL1	CHAT	ATP6V1E1	ARFGEF2	SLC6A1	FANCG	FGF10	NBEA	PIGS	SLC39A13	HERC1	PDPN	GGPS1	DNMT3B	SOS2	CAPN3	SEC24C	ITCH	MPL	NHP2	EXT2	ARF1	ANKRD17	TUBGCP6	APC2	MBTPS1	GAD1	TMEM43	HSD17B4	ATP6AP2	ACTN2	AHSG	NUP85	MAP2K1	ZNF423	USP7	PHF6	NMNAT1	KLC2	RBCK1	SLX4	PCYT1A	COLEC11	ASXL2	WDR45B	SMCHD1	MIR140	RRAS2	RBM28	PDE4D	CRTAP	LTBP4	SVBP	PCGF2	YARS2	YWHAG	HERC2	KCNQ5	HACE1	ARX	SLC35A2	WASF1	ALG11	CTNND2	ALG2	SON	TINF2	BRSK2	RPL11	GRIA3	SYNGAP1	CCM2	NDUFAF5	AK9	TAOK1	RREB1	NDUFS3	CBL	SH3PXD2B	DVL1	RET	SPART	WDR81	CHD3	DKC1	COMT	EXOC6B	COLEC10	MYO1H	CLIC2	TRMT1	RAD51	RBM8A	NCF1	MRPS34	MMP13	LMNB1	DYSF	KRIT1	DOCK3	TOR1A	NELFA	ALG1	AHI1	SBF1	MMP2	PEX5	GNPTG	MAP3K20	DDR2	ANO5	CACNG2	GTF2E2	ACTL6B	ATG7	MADD	FANCL	DPYSL5	NACC1	LARGE1	GLE1	TUBGCP4	EFNB1	MEOX1	LMOD3	KCNMA1	SLC10A7	APTX	PPP2R1A	BCL7B	TRPM3	PPM1D	ARID1A	PUS1	USP8	NEPRO	MTRFR	SOX11	POLD1	HMGB3	DNM1L	NXN	KIAA0586	FANCB	FGD4	ALG9	FANCI	SVIL	COL3A1	IKBKG	SCARB2	SIGMAR1	PRICKLE2	ENPP1	USB1	AP1G1	SLC12A2	RFC2	CAMK2A	PNKP	UBR7	BICRA	SPRED2	GRIA4	ADGRG6	XYLT2	C1S	RBBP8	FLII	HNRNPH2	FLAD1	WNT5A	CFL2	ATAD1	TMTC3	RNF2	FUZ	PSMD12	CNOT3	SETX	ERCC1	NDUFAF6	TTC21B	GP1BB	SNORD116-1	PQBP1	ACVR1	TTPA	SRY	NDUFAF4	FA2H	MED13	LIMK1	PISD	CNOT2	CLCN3	POP1	PIBF1	DLG4	SGMS2	TCTN1	CSF1R	DCX	CDH11	PAX7	TBCE	SH2B1	RNF125	TMEM38B	MINPP1	PGM3	UBTF	CEP290	SORD	SETD2	GNPAT	PALS1	TBC1D20	TUBB3	POLR3A	WT1	CDC45	MIA3	ZNF407	SMARCE1	TMEM165	SPRED1	EPB41L1	GNB2	SLC37A4	GLB1	TBL2	NOTCH2NLC	PWAR1	PARN	RASA2	FANCM	DHCR7	DCHS1	MTRR	ADAMTS10	POLE	TMEM270	CAVIN1	VDR	NCAPG2	ZC4H2	P3H1	HIVEP2	PET100	B3GAT3	ACTA2	RNF113A	CLP1	CASZ1	NUS1	L1CAM	LMBRD2	UFSP2	HNRNPA1	P4HTM	COX8A	MYH2	ARMC9	PDE11A	GFM2	SLC1A2	KCNJ5	PPP2R3C	BANF1	PWRN1	DOCK8	FOXE3	IPO8	CSNK2A1	WRAP53	MCM3AP	PIGY	SDHB	SLC52A3	GNAQ
HP_ABNORMAL_FOOT_BONE_OSSIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FOOT_BONE_OSSIFICATION	TRIP11	CANT1	HOXA13	SLC35D1	EBP	FLNA	PTH1R	LBR	INPPL1	EIF2AK3	MATN3	COL2A1
HP_ENURESIS_NOCTURNA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENURESIS_NOCTURNA	AVPR2	SLC5A2	KY	AQP2	FA2H	RNF168	BNC2
HP_ELEVATED_TISSUE_NON_SPECIFIC_ALKALINE_PHOSPHATASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_TISSUE_NON_SPECIFIC_ALKALINE_PHOSPHATASE	DMP1	CYP27B1	ABCC6	CTNS	MST1	ENPP1	SLC34A1	SEMA4D	CYP2R1	CCDC115	SLC34A3	TCF4	NPR3	VCP	GPR35	ESR1
HP_PULVERULENT_CATARACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULVERULENT_CATARACT	CRYBB2	FTL	LIM2	CRYBB1	HSF4	MAF	BEST1	VIM	GJA8
HP_POLAR_CATARACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLAR_CATARACT	TAOK1	BBS2	APC	HS2ST1	ZBTB20	EPHA2	PEX5	VIM	COL4A3	ITM2B	HSF4	PITX3	CRYAB
HP_INCREASED_CIRCULATING_ANTIBODY_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_ANTIBODY_LEVEL	IFNGR1	GPC3	TNPO3	FASLG	SCARB2	TGFB1	CARD9	WAS	MVK	STING1	PIK3CD	PRKCD	FOXP3	IL21	IL6ST	STAT5B	FAS	GBA	SFTPC	RASGRP1	VPS45	IRAK4	SEMA4D	KRAS	VPS33A	TCF4	MMEL1	PSMB8	CD40	IL4R	TYK2	PGM3	PSTPIP1	PSMB9	CARD10	CASP10	UNG	POMP	OTULIN	CDSN	IL2RB	IRF5	SPIB	LIG4	NCKAP1L	CD3D	CD40LG	IL2RA	IL12A	XIAP	CCND1	PLA2G7	ALB	IKBKG	CD247	NRAS	MUC5B	KRT9	SH2D1A	SPINK5	NSMCE3	NLRP1	STAT3	KRT74	IL12RB1	CD3E	DOCK8	TPP2	SFTPA2	GPR35	MST1	KLHDC8B	IL7R	MS4A2	TNFSF15	ADA	IPO8	PSMB4	IL6R	GPC4	SPPL2A	ELANE	IL2RG	SETX	IFIH1	COL1A1	TERT	KRT1	DNMT3B	SLC7A7	PEPD	COL7A1	EXTL3	ADAM17	MYD88	HLA-DRB1	POU2AF1
HP_ABNORMALITY_OF_HAIR_TEXTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_HAIR_TEXTURE	EDARADD	RAF1	SMAD4	MSX1	OFD1	PERP	ALX4	ASL	SKIV2L	EDAR	TRIM8	TWIST2	BRAF	MTOR	RRAS	NRAS	ERCC3	RIT1	EZH2	KCTD1	EBP	GTF2H5	RPS23	NECTIN1	SOS1	KANK2	KRT71	KRT74	ZMPSTE24	SATB2	MPLKIP	CDSN	DSP	KANSL1	GJA1	DSG4	LZTR1	PADI3	BCS1L	GTF2E2	CERT1	SCUBE3	SUZ12	NOTCH2	VPS33A	LPAR6	ERCC2	ATP7A	SLC25A24	TP63	EDA	EED	NOTCH3	NAGLU	NAA10	LIPH	SMARCAL1	EFNB1	ERCC8	GJB6	PPP1R15B	SHOC2	TGM3	SIN3B	MRAS	SREBF1	RMRP	ATP6V1A	CBL	CLCN7	TRNT1	KRT83	OCRL	HRAS	SGSH	ALMS1	KRT86	GAN	GUSB	ATAD3A	SLC7A7	WNT10A	TTC37	TNFSF11	SUOX	HGSNAT	BRF1	TARS1	NSUN2	GNB2	IFT43	KRT85	ARID1B	SOS2	HPD	JUP	PORCN	CSTB	RPL21	RPS6KA3	PQBP1	CDK13	FLNA	DSC2	COL3A1	IKBKG	RASA2	KRT81	GNS	KAT6B	RIPK4	CCDC47	MAP2K1	NECTIN4	KRAS	SUMF1	LIG4	PHGDH	PRR12	CDH3	SPRED2	TMCO1	RNF113A	PIGL	SIN3A	KRT17	AHCY	DCAF17	TINF2	SON	ERCC6	RRAS2	USP9X	NBAS	ITGA3	PCNT	SPINK5	IFT122	SNX10	ABCD1	SEC23A	HNRNPH2	KRT25	PLOD3	TCIRG1	PPP1CB	ATP6V1E1	TRPS1	MED12	TRMT10A	HR	CBS	MAP2K2	GON7	ATP6V0A2	EPS8L3	RLIM	NSD1	CARS1	DPYSL5	PYCR1	TCHH	WDR35	ST14	AFF4	SVBP	PTPN11	GATAD2B	GNPTAB
HP_ABNORMAL_HAIR_PATTERN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HAIR_PATTERN	RERE	NTNG2	ZMIZ1	ECM1	TRMT1	GATA1	NDN	SRCAP	TWIST2	BRAF	POLA1	RRAS	DPM2	ABCC9	FRMPD4	DOCK7	RIT1	ACTB	HSPG2	EBP	DOCK3	YY1	DOCK6	CDH2	SOS1	MED27	PEX19	NELFA	POLR1C	RPL18	AP2M1	TCF12	INTU	MAB21L1	LRP2	RBM10	LETM1	TECPR2	ZMPSTE24	TWIST1	GDF6	SMARCA4	PADI3	PACS1	ARX	TSC1	ACTL6B	SALL4	EMC10	MYO18B	LMNA	DPYSL5	FRAS1	THOC6	SMC3	CHST3	MID1	CAVIN1	SLC25A24	PTPN23	LRPPRC	KDM5C	TRIP12	SMC1A	SMARCB1	EFNB1	AEBP1	MEOX1	CPLX1	FREM2	MAPK8IP3	MRAS	POLR1D	KCNMA1	PHF8	PPP2R1A	SLC35C1	ARID1A	MYH3	HPGD	CLCN3	RPL27	SLC2A1	BRCA1	KNSTRN	FBXW11	WDFY3	PIK3C2A	ALMS1	KREMEN1	RPL35A	MKRN3	BPTF	RPS10	TCF20	RPS26	NIPBL	NEPRO	SOX11	ARID1B	RPS15A	HYOU1	SMARCE1	ALX3	MEIS2	BCORL1	RLIM	RAB3GAP1	SLCO2A1	KCNN3	NPAP1	NSD2	CREBBP	RAB3GAP2	STAMBP	TMCO1	CCDC32	TBL1XR1	NEXMIF	MYT1L	ATP6V1B2	IKBKG	ANKRD17	DMPK	SPEN	FGD1	RPL15	ZIC1	RAD21	KRT83	SMARCA2	ASXL1	SNRPN	SLC6A1	SLC12A2	MAN2B1	KRAS	LIG4	SYT1	UBR7	KMT2E	BICRA	SPRED2	BRD4	CDH1	SMPD4	IRX5	GRIA4	RAB18	NSD1	HPDL	SMARCD1	XYLT2	GDF3	FOXP1	VPS13B	BLM	CTBP1	MAGEL2	TBC1D20	TCOF1	TCF7L2	ADARB1	PUS7	SPATA5L1	CD96	CNBP	ABCD1	MADD	GNE	RPS24	SYNCRIP	SPOP	PPP1CB	ADA2	AGO2	PIK3CD	RPS19	EMC1	COG5	SCN1A	RNF2	SNORD115-1	WNT4	FRMD4A	PEPD	NTNG1	POLR1B	CHRNG	EP300	PGAP1	ANKRD11	LMX1B	SPTBN1	BSCL2	SETD5	SATB1	CNOT3	UBE2A	IFIH1	WBP11	TBX2	GRIP1	KAT8	SETD1A	NR3C1	SNORD116-1	SVBP	NFIX	PIGK	PTPN11	NOTCH3	APC	PIGG	GDF11	SRY	HDAC8	KDM4B	ARID2	XRCC4	NOVA2	NRAS	TBC1D24	RAF1	PSMD12	MED13	CHD2	SPECC1L	SPRED1	ACTG1	FGFR2	UBR1	TFAP2A	RPS17	RPS7	ANTXR1	MAN1B1	INSR	ALG12	RPS28	VPS51	ALDOA	UGP2	TP63	NF1	RPL35	DLX4	KCNH1	DSG4	LZTR1	WRN	RPL5	TNRC6B	PPARG	NOTCH2	EDEM3	SH2B1	HUWE1	VPS33A	SLC12A6	TAF6	RPS27	ZNF699	TANC2	ADNP	RALGAPA1	SOX4	DDX6	BCAS3	SETD2	PPP1R15B	SMARCC2	TGM3	TBX15	RPS20	AGPAT2	PALS1	NANS	FLNA	SYNGAP1	NBN	ACTL6A	SHOC2	MAP3K7	STXBP1	NSUN2	GNB2	KRT85	STAG2	SOS2	PORCN	SLC9A7	MAPK1	FREM1	PWAR1	MAFB	CHN1	HS2ST1	RASA2	APC2	CPOX	ALX1	FGFRL1	KRT81	FGFR3	CCNK	PQBP1	MAP2K1	NECTIN4	AIFM1	DPF2	KDM1A	HTT	CAV1	B3GAT3	CCDC22	IL2RA	RPL11	RRAS2	ERMARD	LMBRD2	RPL26	CUL4B	SIN3A	FOS	MED13L	KCNJ8	HERC2	KRT86	MED12	TRMT10A	PWRN1	WASF1	MAP2K2	ZC4H2	PEX6	RPL31	COL17A1	RPS29	PEX1	TSR2	COG7	ALG9	CBL	TRAPPC4	WASHC5	HR	OGT	IGF1	CWC27	JARID2	ITGB4
HP_ABNORMAL_HAIR_WHORL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HAIR_WHORL	PUS7	PTPN23	TRIP12	NTNG2	SRCAP	ZMIZ1	SVBP	DDX6	SYNCRIP	MED13L	TRMT1	BCAS3	NDN	POLA1	HERC2	MADD	MAPK8IP3	SATB1	FRMPD4	KDM4B	KCNMA1	PALS1	PPP2R1A	AGO2	FLNA	SNRPN	MED12	SLC12A2	PSMD12	MED13	LMNA	DOCK3	PWRN1	MED27	YY1	FBXW11	WDFY3	RNF2	WASF1	ACTL6A	CLCN3	HTT	UBR7	MKRN3	KMT2E	BPTF	SNORD115-1	NTNG1	TCF20	MAN1B1	EP300	SPTBN1	GRIA4	CNOT3	HPDL	UBE2A	HUWE1	UBR1	FOXP1	BCORL1	RLIM	WRN	ACTL6B	TNRC6B	KAT8	NPAP1	SETD1A	MAGEL2	CREBBP	MYT1L	SNORD116-1	TRAPPC4	STAMBP	EMC10	PWAR1	LMBRD2	CCDC32	OGT	DPYSL5	JARID2	HS2ST1	TCF7L2	TANC2	ANKRD17
HP_ASYMMETRY_OF_THE_EARS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASYMMETRY_OF_THE_EARS	SMS	PUF60	GAD1	BCOR	RAB3GAP2
HP_CHERRY_RED_SPOT_OF_THE_MACULA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHERRY_RED_SPOT_OF_THE_MACULA	ASAH1	GM2A	GALC	HEXB	NEU1	SMPD1	DARS1	CTSA	GLB1	PSAP	HEXA	TMEM231
HP_NODULAR_CHANGES_AFFECTING_THE_EYELIDS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NODULAR_CHANGES_AFFECTING_THE_EYELIDS	ABCA1	SLC37A4	EPHX2	PCSK9	SPRED1	TTPA	LPL	CYP27A1	PPP1R17	APOA1	PRKAR1A	GHR	LDLR	APOE	APOB	APOA2	G6PC1
HP_NAEVUS_FLAMMEUS_OF_THE_EYELID	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NAEVUS_FLAMMEUS_OF_THE_EYELID	PUF60	DVL1	WNT5A	FZD2	DIS3L2	ASXL1	DVL3
HP_PEDAL_EDEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PEDAL_EDEMA	SCARB2	APC2	ZNHIT3	FLT4	FN1	GATA4	MAGEL2	TGM1	NDN	OCA2	EIF2AK4	PLAA	MEFV	SNRPN	CDH23	IRF4	SETD2	CITED2	TBX20	RNF13	TLL1	GATA6	KIF1A	USP8	GBA	ALB	PRKAR1A	TIE1	GJC2	MKKS	COL2A1	RBM8A	MYH6	ACTC1	NSD1	MYD88	NKX2-5
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	LMNA	KCNN3	BMPR1B	FIG4	GDF5	VAC14
HP_MEDIAL_FLARING_OF_THE_EYEBROW	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEDIAL_FLARING_OF_THE_EYEBROW	BBS9	BBS7	IFT27	ELN	MLXIPL	ARL6	TRIM32	GNB2	APTX	BBS5	BBS12	MKKS	BBIP1	IFT74	NPHP1	IFT172	BBS2	CEP290	SCAPER	CEP19	BBS4	MKS1	BBS1	WDPCP	BBS10	CFAP418	TTC8	LZTFL1	SIN3A	SDCCAG8
HP_BLEPHAROCHALASIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLEPHAROCHALASIS	COL5A2	COL1A1	ADAMTS2	GSN	CDH11	COL5A1
HP_DERMATOCHALASIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DERMATOCHALASIS	LTBP1	COL5A2	COL1A1	PIK3CD	EFEMP2	FBLN5	KNSTRN	COL5A1
HP_DIMPLE_CHIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIMPLE_CHIN	MYH3	EZH2	PIEZO2	SPECC1L	ERF	SMARCA2	CHD7	KCNJ6	TWIST2	PIK3R1	TFAP2A	RUNX2	NALCN	CTU2	SEMA3E	TBX22
HP_ABNORMALITY_OF_THE_TEMPOROMANDIBULAR_JOINT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_TEMPOROMANDIBULAR_JOINT	IDS	LMNA	COL1A1	VPS13A	EDN1	PTPN22	ZMPSTE24	CD247	ANKRD55	LAMA2	IL2RA	GNAI3	COL5A2	STAT4	PLCB4	IL2RB	COL5A1	PTPN2
HP_ABNORMALITY_OF_THE_PREMAXILLA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PREMAXILLA	NRAS	COLEC11	SMOC1	HRAS	PTCH1	EFEMP2	GLI2	NFIX
HP_PROMINENCE_OF_THE_PREMAXILLA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENCE_OF_THE_PREMAXILLA	NRAS	COLEC11	HRAS	EFEMP2	NFIX
HP_ABSENT_TOE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_TOE	EOGT	LMNA	PIGG	GPC4	NTNG2	SRCAP	PIGF	ZMIZ1	FGFR2	CPLX1	FGFRL1	TRMT1	ABCC9	SATB1	KDM4B	DLL4	RIPK4	FIG4	SMOC1	LMBR1	APC	PTHLH	SLC12A2	ARSL	PSMD12	KCNH1	CHSY1	CTBP1	MED13	DOCK3	TRPV4	MED27	CLCN3	HTT	NELFA	UBR7	KMT2E	VAC14	PUF60	MGP	FLNA	LETM1	RBPJ	GRIA4	HPDL	DOCK6	SALL4	NSD2	BMPR1B	ACTL6B	CHST11	TNRC6B	GDF5	NOTCH2	KAT6A	MYT1L	EMC10	LMBRD2	DPYSL5	NEK1	TCF7L2	TANC2	ROR2	PUS7	PTPN23	BHLHA9	HOXD13	TRIP12	SVBP	DDX6	SYNCRIP	ARHGAP31	BCAS3	KCNJ8	FGFR1	MADD	MAPK8IP3	KCNMA1	PALS1	AGO2	SALL1	HOXA13	GJA1	NOG	WNT7A	IHH	FBXW11	WDFY3	RNF2	WASF1	ACTL6A	BMP2	BPTF	NTNG1	TCF20	SPTBN1	NOTCH1	SF3B4	CNOT3	DLX5	DACT1	HUWE1	ARID1B	BCORL1	RLIM	PORCN	KAT8	KCNN3	ACVR1	SETD1A	TRAPPC4	CCDC32	LRP4	GLI3	WNT10B	JARID2	HS2ST1	ANKRD17
HP_BROAD_COLUMELLA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_COLUMELLA	PPP1R21	ATP6V1E1	RDH11	FLI1	GJA1	ALX4	HDAC4	PIK3C2A	ZSWIM6	CWC27	CKAP2L	EXOSC2
HP_ECTOPIC_CALCIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTOPIC_CALCIFICATION	FAM111A	SUFU	MYO5A	MT-ND6	DKC1	LBR	GNA11	RTEL1	ECM1	OPA1	VPS35L	FGFR1	GBA	KRAS	DNM1L	RNASEH2A	QDPR	ABCC6	NDP	PEX3	ARSL	EBP	TYROBP	NT5E	TSC2	HGD	PDGFB	GNAQ	VPS33A	THRB	PSMB8	APOB	PRKAR1A	MT-TW	KATNB1	LDLRAP1	HSD17B4	GATA3	GNAS	ERCC2	MYORG	PEX7	JAM2	AMER1	MT-TH	ZMPSTE24	GALNT3	KRIT1	PSMG2	CTC1	DDR2	AGPS	WRN	SLC20A2	MT-CO1	BMPR1B	TSC1	NOTCH3	NEU1	ANKH	MT-ND1	NOTCH1	CLCNKB	SLC29A3	TREX1	CTSC	LMNA	RNASEH2C	PTCH2	TERT	PEX1	ATP7A	PAH	SC5D	IFIH1	ABCG5	RNU7-1	AP1S2	ERCC1	NSMCE3	PTCH1	CA2	RNASEH2B	HLA-DQA1	SLC12A3	PDGFRB	NRAS	TREM2	CASR	FZD4	ERCC8	ALPL	GNPAT	NPM1	SLC46A1	CTNNB1	APP	LDLR	SUCLA2	MT-TF	B2M	PEX16	XPR1	PEX6	LIPA	PRSS1	SMAD6	PRSS2	NHP2	PEX19	KARS1	FAM20C	COL11A1	GDF5	MT-CO3	GJA1	PEX12	NKX2-5	SPINK1	SLC34A2	MT-CO2	ERCC6	STAT1	CCN6	PCSK9	CTRC	IFNG	OCLN	LEMD3	TCIRG1	ACD	ATP7B	MT-TL1	CYP2U1	SLC2A1	COL2A1	ERCC4	DHCR7	COL9A1	TNFRSF11B	PSMC3	CPT2	SNRPB	NSDHL	CPA1	PARN	SAMHD1	PDE4D	HRAS	RTL1	ENPP1	CDC73	AGXT	RB1	PEX10	SLC12A1	SLC26A2	ADAR	PEX11B	USB1	AP2S1	MEFV	CFTR	ERCC3	ACP5	FARSB	GATA5	SNORD118	PEX13	MT-TS2	FGF23	SLC25A46	STAT2	PEX5	ISG15	MGP	PEX26	ZBTB20	GCM2	LSM11	MYMK	KCNJ1	KL	FXYD2	AIRE	PTH	TINF2	MEG3	PTH1R	USP18	COLGALT1	TERC	MT-ND5	ERCC5	CYP11A1	FLNB	ABCG8	TNFRSF11A	ATOH7	PEX14	MTX2	TNFRSF1A	TTC7A	NOP10	MEN1	GUSB	BRAF	DENND5A	PEX2	GGCX	HYAL1	RELN	SMARCB1	CTNS	HLA-DQB1	ZNFX1	DLK1	WRAP53	RNASET2	DAG1	ODC1	MT-ND4	MT-TQ	ACVR1	NDE1	FBN1
HP_PARTIAL_ANOMALOUS_PULMONARY_VENOUS_RETURN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARTIAL_ANOMALOUS_PULMONARY_VENOUS_RETURN	NODAL	MYRF	TMEM260	SMC1A	MED12	WT1	FOXF1
HP_HYPERACUSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERACUSIS	GM2A	MLXIPL	GTF2IRD2	FKBP6	ELN	FLII	STX1A	VPS37D	DEAF1	BAZ1B	RAI1	BCL7B	TMEM270	GTF2I	NCF1	METTL27	IQSEC2	TBL2	CLIP2	RFC2	BUD23	GTF2IRD1	LIMK1	EIF4H	DNAJC30
HP_SKIN_DIMPLE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_DIMPLE	ERGIC1	KCNK9	AFF3	PIGG	MLXIPL	LIFR	ALPL	DCHS1	CPLX1	FGFRL1	KANSL1	ANK1	DYRK1A	ELN	ASXL1	FUZ	USP9X	TMEM270	GTF2I	NCF1	CTCF	CTBP1	ROR2	RFC2	NCAPG2	LIMK1	KMT2A	EIF4H	HNRNPK	NELFA	PSMD12	LIG4	HCCS	PRR12	FKBP6	ODC1	LETM1	STX1A	DVL3	BAZ1B	RAB23	RPL10	NSD2	NADSYN1	BUD23	PAFAH1B1	DPAGT1	RMRP	CDK10	HIC1	DNAJC30	ZNF699	TBX4	CD96	GTF2IRD2	FZD2	SPOP	SOX9	VPS37D	COLEC10	WNT5A	FANCF	SHANK3	BCL7B	MED12	VANGL2	CCL2	DHPS	B9D2	KIF15	HOXA13	EBP	SETD5	COX7B	B3GLCT	NSUN2	TBXT	GNB2	YWHAE	TAF1	ARID1B	VANGL1	NXN	DEAF1	NDUFB11	METTL27	TBL2	CLIP2	OTUD6B	EXTL3	GTF2IRD1	TMCO1	FAT4	DVL1	SUGCT	CAPN15	MASP1	AEBP1
HP_ERYTHEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERYTHEMA	IKBKG	HLA-DRB1	CTLA4	MT-ND6	TGM1	ADGRE2	STING1	XPNPEP2	TGM5	LRP1	SREBF1	CSTA	XRCC4	TRPV3	SLURP1	DDB2	WNT10A	AP1S1	DDR2	IKZF1	FERMT1	KCNQ2	EGFR	IL17RA	AQP5	CLEC7A	KDSR	LIG4	KRT5	SCN9A	KRT2	MT-TS2	KRT1	RHOH	PSMB8	HCCS	PLCG2	MT-TW	TNFRSF1A	ALOX12B	ALOXE3	COL1A1	RECQL4	GJB4	SCN11A	SLC39A4	KIT	MT-TH	CDSN	MBTPS2	PIGL	MEFV	DSP	ERCC5	PSMG2	CD28	GJA1	IL17RC	MT-CO1	ATP2C1	CTSB	KRT14	MT-ND1	RNF168	SERPING1	IL17F	ANAPC1	MT-ND5	TRPM4	KRT83	PGM3	ITGA3	PDGFB	LORICRIN	HPGD	XPA	MVK	LIPN	STAT3	NLRP3	NOD2	TNFRSF1B	GLUL	ADAM17	MT-TF	KRT10	GJB3	ERCC3	SULT2B1	USP8	IL36RN	AIP	HLA-B	PEPD	HLA-DQB1	DSG4	MT-CO3	ALDH3A2	COX7B	FECH	MT-CO2	TREX1	GNB2	ELOVL4	MT-TL1	SCN10A	ERCC4	ERCC2	NDUFB11	CDKN1B	MT-ND4	TRAF3IP2	NSDHL	XPC	MT-TQ	PORCN	COL7A1	PERP
HP_GONADAL_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GONADAL_NEOPLASM	WNT10A	APC2	CDC73	SUFU	ERBB2	AR	SRY	STAG3	VAMP7	KIT	RNF43	MAP3K1	RAD51C	ZFPM2	NR0B1	KANSL1	TXNRD2	CDKN1C	KEAP1	MNX1	MLH3	GATA4	SOX9	CDH1	TP53	KCNQ1OT1	TGFBR2	RABL3	PDE8B	IGF2	RAD51D	DICER1	STAR	WT1	NBN	IDH1	NR5A1	DHH	MSH2	BRIP1	KRAS	PMS1	CDKN2A	CHEK2	PTEN	CTNNB1	MLH1	BRCA1	WRN	WWOX	VHL	PALB2	MRAP	PRKN	PTCH2	NSD1	CCND1	AKT1	FGFR2	BARD1	PRKAR1A	RAD51	PDE11A	BRCA2	EWSR1	DMRT3	ZFTA	MSH6	SETD2	SMAD4	BCL10	PTCH1	NNT	PMS2	LMNA	PIK3CA	CYP11B1	KCNQ1	FAN1	PAX6	MRE11	PRKACA	SETBP1	EP300	PALLD	EPCAM	STK11	HNF1B	OPCML	DHX37	SPRED1	RAD50	FGFR3	FLI1	IDH2	MC2R	MDM2	CDKN1B	CREBBP	MSH3	STS	RELA
HP_URINARY_TRACT_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URINARY_TRACT_NEOPLASM	NF1	STK11	TFE3	TLR2	AKT1	CDKN1B	CDKN1C	GPC3	FH	MET	SOX9	SLC25A11	KCNQ1OT1	EXT2	RNF139	IGF2	TSC2	WT1	H19	HDAC4	KLLN	PBRM1	GPC4	FGFR3	DICER1	MLH3	BUB1	FIBP	TSC1	MSH6	MCC	DLST	HNF1B	MLH1	WRN	RB1	DIS3L2	FLCN	VHL	PHF21A	CCND1	AURKA	BUB1B	SDHD	TRIM28	CTNNB1	MSH2	RPS20	SDHC	AXIN2	HRAS	SEMA4A	PAX6	MDH2	PIK3CA	SDHB	BRCA2	SETBP1	OGG1	EPCAM	DLC1	ARMC5	KIF1B	SPRED1	PMS2	POU6F2	IFNG	SRC	GNAS	MDM2	BUB3	ALX4	NTHL1	CEP57	TRIM37	SRY	USF3	ATP7A	NRAS	SEC23B	CDC73	RET	B3GALT6	ASXL1	VAMP7	RNF43	KRAS	ZFPM2	NR0B1	REST	KEAP1	BAX	GATA4	FERMT1	SDHAF2	TGFBR2	MAP3K1	BRAF	HABP2	NR5A1	COL14A1	PTPRJ	PMS1	TP53	NSD1	MINPP1	LMNA	CHEK2	PLA2G2A	DCC	BLM	WWOX	AAGAB	TRIP13	EP300	PRCC	PDGFRL	DMRT3	PTEN	TBX18	PTPN12	APC	NOD2	FN1	FOXE1	PTCH1	BMPR1A	MAX	RAD54B	BAP1	KCNQ1	FAN1	BMPER	CDKN2A	PALB2	DHX37	SDHA	TMEM127	HNF1A	MVK
HP_GENITAL_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENITAL_NEOPLASM	WNT10A	SUFU	ZFHX3	STK11	AR	SRY	TLR2	KANSL1	TXNRD2	POLE	CDKN1C	BRCA2	FH	MNX1	SLC6A17	SOX9	KCNQ1OT1	PDE8B	IGF2	RAD51D	CDH1	STAR	WT1	NBN	MSH6	DHH	APC	AKT1	DICER1	MLH3	BUB1	MCC	MLH1	PTEN	BRCA1	WRN	EPHB2	FLCN	VHL	PRKN	BMPR1A	PTCH2	MAD1L1	NSD1	CCND1	AURKA	CHEK2	FGFR2	PALB2	BUB1B	RAD51	SDHD	EWSR1	CTNNB1	DOCK8	MSH2	SETD2	RPS20	SMAD4	SDHC	AXIN2	NNT	PMS2	PIK3CA	SEMA4A	PAX6	TP53	RNASEL	MRE11	PRKACA	SETBP1	PALLD	EPCAM	DLC1	HNF1B	OPCML	SPRED1	PRKAR1A	FLI1	SRC	NAB2	MDM2	BUB3	CREBBP	CEP57	MSH3	STS	USF3	RELA	GREM1	NRAS	APC2	SEC23B	CDC73	ERBB2	STAG3	VAMP7	KIT	RNF43	MAP3K1	RAD51C	ZFPM2	NR0B1	POLD1	KEAP1	BAX	GATA4	COL4A6	TGFBR2	RABL3	BRAF	MXI1	IDH1	NR5A1	BRIP1	COL14A1	PTPRJ	KRAS	PMS1	CDKN2A	PLA2G2A	COL4A5	DCC	WWOX	KLLN	AAGAB	MRAP	EP300	PDGFRL	BARD1	STAT6	PDE11A	DMRT3	ZFTA	PTPN12	BCL10	PTCH1	NTHL1	LMNA	RAD54B	CYP11B1	KCNQ1	FAN1	CXCR4	TRIP13	DHX37	RAD50	FGFR3	IDH2	SDHB	MC2R	CDKN1B	KLF6
HP_ABNORMALITY_OF_THE_LEYDIG_CELLS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_LEYDIG_CELLS	LHB	MC2R	CYP11A1	SMS	MRAP	STAR	FSHB	ALMS1	PRKAR1A	TXNRD2	GNAS	NNT
HP_IMPAIRED_VISUOSPATIAL_CONSTRUCTIVE_COGNITION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_VISUOSPATIAL_CONSTRUCTIVE_COGNITION	SLC2A3	MT-ND6	PRKAR1B	ELN	ABCD1	SLC2A1	PSMD12	MT-CO2	MLXIPL	MT-TH	NF1	GABRA1	PMPCA	JRK	HTT	CACNA1H	MT-TL1	DARS2	MAPT	MT-CO1	MT-TF	GABRG2	KCNC3	BPTF	MT-ND1	MT-ND4	MT-ND5	NOTCH3	POMT1	MT-TS2	MT-TQ	MT-TW	MT-CO3	GABRB3
HP_HEMANGIOBLASTOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMANGIOBLASTOMA	TMEM127	NF1	SDHB	SDHC	BMPR1A	SDHAF2	SLC25A11	VHL	RET	MAX	KIF1B	SDHD	FH	PTEN	SDHA	CCND1	DLST	MDH2
HP_EVERTED_UPPER_LIP_VERMILION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EVERTED_UPPER_LIP_VERMILION	EDAR	CREBBP	AP4S1	GBA	NAA10	EDA	SETD1A	AP4E1	EDA2R	AP4M1	KCNK4	MAP1B	RAI1	KCNH1	AP4B1	WDR26	EDARADD
HP_TENTED_UPPER_LIP_VERMILION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TENTED_UPPER_LIP_VERMILION	RTL1	KCNK9	GAS1	TGFB3	GPC4	UNC80	PRKACB	DCHS1	FGF8	KDM4B	PURA	PLAA	EEF1A2	BRAT1	TBCK	PGAP3	MYL2	KCNJ6	DPM1	CDC42	ROR2	CYFIP2	NCAPG2	RAB11B	RSPRY1	TDGF1	PIGW	SLC25A46	CLCN3	PREPL	IER3IP1	ZIC2	PIGB	SMPD4	MECP2	NODAL	TGIF1	PGAP2	KCNH1	MEG3	FGFR1	RAPSN	RAI1	PAX3	PIGL	MICU1	PPP2R1A	NEXMIF	FOXH1	STRADA	MSL3	DDB1	FOXG1	ADAMTSL1	RYR1	PIGT	ZNHIT3	MED25	FLII	NALCN	PIGO	ATRX	DEAF1	PIGV	PTCH1	MYOD1	CHAMP1	TCF20	SIX3	GLI2	CDON	MESD	DLK1	SUFU	SHH	PIGY	MEIS2	DLL1	PIGN	NXN	PPP1R21	IQSEC2	ALDH6A1	GALNT2	WDR4	DIS3L2	TMEM237	FAT4	IL1RAPL1	DISP1	MBD5
HP_U_SHAPED_UPPER_LIP_VERMILION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_U_SHAPED_UPPER_LIP_VERMILION	ZSWIM6	CDK19	EHMT1	ATRX	DPM1	MAPK1	ZC4H2	OFD1
HP_OPEN_BITE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPEN_BITE	FAM83H	MLXIPL	GTF2IRD2	OFD1	ENAM	KCNH1	FZD2	BRAF	VPS37D	RAI1	WNT5A	POLR1D	ELN	BMP2	BCL7B	TMEM270	GTF2I	DSPP	NCF1	RELT	ROR2	RFC2	OCRL	LIMK1	EIF4H	FGFR2	KCNN3	KLK4	RUNX2	POLR1C	MMP20	AMELX	FKBP6	STX1A	DVL3	TWIST1	FGFR3	BAZ1B	GNAI3	NXN	SOBP	HNRNPK	METTL27	PTEN	ADAMTS2	TBL2	CLIP2	POLR1B	NOTCH2	GPR68	PRKAR1A	BUD23	GTF2IRD1	ATP6V1B2	DVL1	CUL4B	DNAJC30	PORCN	ITGB6	TCOF1	PDE4D
HP_PROTRUDING_TONGUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROTRUDING_TONGUE	SLC25A24	UBE3A	EHMT1	OCA2	VPS13A	ADGRG1	PIGB	GRIK2	RALGAPA1	ATRX	CCDC22	MGAT2	HELLS	INPP5E	NEU1	SRPX2	GATA1	COG7	NRXN1	CSNK2B	ZBTB24	NFIX	DNMT3B	LMNB1	CDCA7	CHUK	PEX1	TAF1	PI4KA	LAMA2	SNRPN	FAM20C	SLC35C1	FTO	ZNF699	PTH1R	CLIC2
HP_EPIDERMAL_NEVUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIDERMAL_NEVUS	PIK3CA	NEK9	NRAS	PTEN	AKT1	BRAF	KRAS	HRAS
HP_GENERALIZED_TONIC_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_TONIC_SEIZURE	GRIN1	GABRG2	TRIM8	CHD2	CACNA1I	NEUROD2	CACNA1A	DPM1	PRICKLE2	KCNQ3	KCNQ2	CDH15	TBCD	SCN2A	SCN1A	KIF1A	HCN2	PRRT2	PCDH19	GABRA1	CAMK2A	HIVEP2	ARHGEF9	PPP3CA	SCN9A	PAFAH1B1	STXBP1	CDKL5	GRIN2B	SET	EEF1A2	ERBB4	MYT1L	RPL10	CACNG2	COG2	SIK1	DYNC1H1	DOCK7	GABRB3	GRM7	GNAO1	PIGT	KDM5B	PNKP	DMXL2	SETD1B	CAMK2B	MED12L	CASK	SCN1B	KCNQ5	MBD5	PIGQ	ZMYND11	CIC	TRPM3	DLL1	ASH1L	NBEA	CUX2	CUX1	KIRREL3	KARS1	CLTC	DOCK8	RAB11A	TCF4	ARX	CHAMP1	CSNK2B	DEAF1	KCNA1	SCN8A	SATB1	EPB41L1	DNM1	BRSK2	GRIN2A	SYNGAP1	TAOK1	MAPK10	PIGP	TANGO2	SLC25A22	ADGRV1
HP_ATONIC_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATONIC_SEIZURE	GRIN1	TRIM8	CHD2	SCN1A	CACNA1I	ADGRG1	NEUROD2	CACNA1A	CEP85L	PIK3CA	ATP6AP2	DPM1	PRICKLE2	DYRK1A	CDH15	PTEN	SCN2A	KIF1A	SLC6A1	HCN2	NGLY1	CAMK2A	HIVEP2	AP2M1	PHGDH	NHLRC1	PPP3CA	GAMT	PAFAH1B1	PIGM	KCNB1	CDKL5	GRIN2B	SET	EEF1A2	ERBB4	GPAA1	MYT1L	CACNG2	PCDH19	NEXMIF	HCN1	SIK1	DYNC1H1	DOCK7	GABRB3	GRM7	GNAO1	SCN9A	KDM5B	PNKP	ADGRV1	DMXL2	SCN1B	COX8A	SETD1B	GOSR2	AKT3	FRRS1L	PLPBP	PRICKLE1	SLC13A5	CAMK2B	MED12L	CASK	KCNQ5	MBD5	PIGQ	ZMYND11	CIC	EPM2A	GABRG2	TRPM3	SYNGAP1	DLL1	ASH1L	NBEA	SLC2A1	CUX2	CUX1	KIRREL3	CLTC	DOCK8	RAB11A	TCF4	ARX	CHAMP1	CSNK2B	CSNK2A1	DEAF1	KCNA1	STX1B	EPB41L1	GNB2	DNM1	BRSK2	GABRD	IQSEC2	TAOK1	MAPK10	GRIN2A	PIGP	ALDH7A1	ALDH4A1	ASAH1	SLC25A22	GABRA1
HP_ABNORMALITY_OF_THE_SEVENTH_CRANIAL_NERVE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_SEVENTH_CRANIAL_NERVE	LMOD3	FKRP	SUPT16H	TPM2	POLG	MYO9A	AGRN	LRP4	CLCN4	MYL2	PEX1	HK1	VCP	COL6A1	FRG1	RRM2B	MGME1	TCIRG1	SRPX2	KLHL41	DOK7	DES	TRIM32	ZNF41	CHRNE	COL6A2	ALG2	MTMR2	SLC19A3	ADSS1	GDI1	BTNL2	LARGE1	CNTNAP1	ACTA1	ANKH	FTSJ1	CLCN7	GSN	TFAP2A	LRP12	MPZ	ABCA1	TGFB1	KBTBD13	AMER1	ADCY6	BAP1	MYPN	SUCLA2	SLC25A4	BIN1	SLC25A1	SCN4A	NEB	TTN	EYA1	TWNK	ITGB4	SMARCE1	MTRFR	SIX1	NF2	TPM3	SLC5A7	ANO5	BMS1	SEMA3E	COLQ	TRAF7	CHD7	SLC9A7	SNAP25	SMO	ASAH1	SALL4	LRP5	LAMA2	PTRH2	TK2	SLC12A6	CNKSR2	COL13A1	PEX5	AKT1	CHRND	RYR1	GLE1	SLC52A3	SYT2	LAMB2	SH3TC2	PLEC	POMT2	CHAT	SLC18A3	GFPT1	NEFL	DMD	ARHGEF6	MUSK	SLC39A14	KY	MTMR14	IQSEC2	CRYAB	ACSL4	SMARCB1	COL6A3	MYMK	CHRNA1	GAN	POMT1	GJA1	MYH7	CAPN3	GJC2	SYP	SELENON	ADA2	SUFU	SOST	CHRNB1	PEX2	SQSTM1	ZNF711	POLG2	TSPAN7	GNE	MED12	HOXB1	RAPSN	TERT	PDGFB	USP9X	PEX16	ALG14	PIK3CA	DMPK	CHKB	CRPPA	IL1RAPL1	SNX10	BAG3	PEX11B	SPEG	PABPN1	TUBB6	VAMP1	MEGF10	FKTN	SPTBN4	PEX12	GMPPB	SLC52A2	DCTN1	DLG3	CHCHD10	BICRA	MID2	DNM2	SMCHD1	ACADS	PUF60	DLL4	KLHL40	DNAJB6	PEX6	FRMPD4	ARX	ALG13	RAB39B	PI4KA	REV3L	DPAGT1	STEEP1	MTM1	CLCF1	TFG	COL12A1	AGTR2	UBA1	PEX14	NOD2	CRLF1	CFL2	YME1L1	PEX10	PEX3	SCO2	PTDSS1	UPF3B	SGCD	ZFHX4	RPS6KA3	PEX26	ZC4H2	TRPV4	PEX13	PEX19	ADGRG1	SHMT2	DNA2	PTCHD1	TUBB3	COL25A1	USP27X	AK9	PLXND1	ZNF81	PAK3	MECP2	HLA-DRB1	NARS2	SIX5	HCFC1
HP_HEMIFACIAL_SPASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMIFACIAL_SPASM	TRAF7	TERT	SUFU	PDGFB	SMO	SMARCE1	SMARCB1	NF2	AKT1	BAP1	INPP5E	PIK3CA
HP_IMPAIRED_TEMPERATURE_SENSATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_TEMPERATURE_SENSATION	SPTLC1	SPTLC2	CACNA1A	KRT1	HEXB	NTRK1	LMX1B	MAGEL2	SIM1	NDN	TGM1	OCA2	ATL1	HSPB1	ABCA1	KRT9	SNRPN	MFN2	SCN1A	SLCO2A1	HPGD	PMP22	PRRT2	NGF	KRT16	ATL3	ZFHX2	JAG1	AEBP1	ATP1A2
HP_IMPAIRED_TACTILE_SENSATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_TACTILE_SENSATION	SPTLC1	SACS	SPTLC2	KRT1	MORC2	NARS1	GALC	DHH	HK1	KLHL9	ATL1	PLEKHG4	SETX	KRT9	CLTCL1	DCAF8	HARS1	VWA1	GDAP1	PMP22	MPV17	KRT16	ATL3	ATXN1	VCP	ATP13A2	DDHD1
HP_IMPAIRED_PROPRIOCEPTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_PROPRIOCEPTION	VAMP1	SACS	SAR1B	PLOD1	POLG	MT-TE	CADM3	SPTLC1	PI4KA	PRX	GCH1	STUB1	ABCD1	TPP1	PIEZO2	HAX1	PMP22	WASHC5	KCND3	TWNK	FXN	FLVCR1	SAMD9L	FMR1	CYP7B1	FLRT1	ERBB3	PLD3	TBP	BEAN1	ATXN1	WDR48	VCP	JAG1	KIF5A	UBAP1	ALDH18A1	DDHD1	MPZ	MORC2	CHCHD10	KLHL9	CPT1C	SLC25A15	REEP2	RNF170	OPA3	ATL1	HARS1	REEP1	KPNA3	HSPD1	NEFL	SPG7	KCNC3	LRSAM1	NIPA1	GBA2	PDK3	SYNE1	HINT1	ATP13A2	FAR1	EGR2	VPS13D	MFN2	SLC33A1	ATXN2	VPS13A	DHH	HK1	ERLIN2	GPI	SORD	SPTLC2	DCAF8	ATXN8OS	MAG	SPART	RTN2	SPTBN2	DARS2	PIK3CD	SCO2	SPG11	C19orf12	B4GALNT1	KNSTRN	SPAST	SH3TC2	GDAP1	BSCL2	VPS37A	CACNA1G	MTTP	TDP1	NAGLU	LMNB1	PDYN	POLR3A	ATN1	PLEKHG4	SETX	DNAJC3	ATXN3	FGF14	MT-ATP6	VPS41	PRKCG	NEFH	ARSI	ZFYVE26	PEX6	KLC2	XRCC1	RFC1	GARS1
HP_ABNORMALITY_OF_PAIN_SENSATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_PAIN_SENSATION	AIFM1	LIFR	MPV17	YY1	SCN9A	ABCA1	NDN	PMP22	SDHA	WNK1	SNRPN	GABRG2	PRPS1	ATL3	ATXN1	H19	VCP	JAG1	DDHD1	FBN1	KDM5C	ATL1	CCT5	EBF3	MEN1	HARS1	HDAC4	RAI1	SYNGAP1	HNRNPK	NEFL	CHST14	MAGEL2	CDKL5	NGF	MADD	NTRK1	FAR1	UBTF	ATP1A2	NGLY1	DEAF1	SPTLC1	SPTLC2	PRNP	SCN11A	DKK1	ABCD1	HK1	FLII	SORD	RETREG1	CLTCL1	ZFTA	NLRP3	HERC2	NTNG1	SHANK3	ZEB2	KIF1A	MECP2	PWRN1	DSE	CHAMP1	ZFHX2	SH3TC2	GRIN2A	MKRN3	SNORD115-1	GDAP1	CACNA1A	TDP1	GJB1	LMX1B	SMC1A	HSPB1	ELP1	MFN2	GRIA3	ALDH18A1	SCN1A	FMR1	IQSEC2	GABBR2	KCNQ1OT1	NPAP1	PRRT2	TMEM218	SCN10A	ALDH4A1	SNORD116-1	SRPX2	PWAR1	IGF2	MPZ	RELA
HP_SPONTANEOUS_PAIN_SENSATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPONTANEOUS_PAIN_SENSATION	CACNA1A	PRRT2	ATP1A2	PMP22	SCN1A
HP_TROPHIC_CHANGES_RELATED_TO_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TROPHIC_CHANGES_RELATED_TO_PAIN	SPTLC1	ATL3	SPTLC2	NTRK1	ATL1
HP_ABNORMAL_CIRCULATING_COPPER_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_COPPER_CONCENTRATION	ATP6V0A2	CP	SCO2	TMPRSS6	SPATA5	COG2	ATP6AP1	AP1B1	ATP7B	AP1S1
HP_MULTIFOCAL_EPILEPTIFORM_DISCHARGES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIFOCAL_EPILEPTIFORM_DISCHARGES	KCNMA1	RSRC1	GABRG2	TRIM8	DCPS	TNIK	NCDN	NEUROD2	CLIP1	MED25	PIGC	DPYD	ZC3H14	SCN2A	WASHC4	PCDH19	NPRL2	PGAP1	GABRA1	CHD2	CLN5	TRAPPC9	SARS1	UFSP2	SCN9A	NDST1	SLC25A10	CDKL5	NAA20	TECR	FBXO31	SLC12A2	SIK1	PPP3CA	DOCK7	LRPPRC	DOLK	C12orf4	GRM7	GNAO1	PIGT	CC2D1A	PNKP	IQSEC1	DMXL2	SLC45A1	PRSS12	CARS2	B3GALNT2	PLPBP	SLC13A5	MED13L	KDM5B	CASK	CLTCL1	GRIK2	SCN1B	FMN2	CRADD	PIGQ	FRRS1L	SCN1A	METTL23	ST3GAL3	ST3GAL5	ALKBH8	SPTBN1	AIMP1	FGF12	MBOAT7	HNMT	ARX	EDC3	MED23	MAN1B1	KCNA1	CRBN	SATB1	DEPDC5	TTC5	LINS1	TUSC3	NPRL3	LMAN2L	PIGP	ALDH7A1	UBE4A	SLC25A22	NSUN2	EZR	NEMF	GNB1	AP1G1	ACTL6B	MYD88
HP_EEG_WITH_MULTIFOCAL_SLOW_ACTIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_MULTIFOCAL_SLOW_ACTIVITY	PPP3CA	WWOX	PARS2	ARV1	UBA5	CYFIP2	NECAP1	SYNGAP1	ATP6V1A	CLTC	PIGY	NUS1	CACNA1B	GABRA2	ACTL6B	GRIN2A	TRAK1	DHDDS	SLC13A5	GABRG2	FGF12	DNM1	ATP1A2	GABRA5	SCN8A	CELF2	CACNA1A	SLC1A2	KCNB1	HCN1	EEF1A2	GABRB2	SCN3A	KCNA2	AARS1	GRIN2D	SYNJ1	ATP1A3	CDK19	YWHAG	NTRK2	FGF13	AP3B2	SZT2	DALRD3	CNKSR2
HP_EEG_WITH_GENERALIZED_SLOW_ACTIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_GENERALIZED_SLOW_ACTIVITY	C9orf72	LMNB1	MECP2	TREM2	PLPBP	PSEN1	SLC13A5	CDKL5	TMEM106B	GRN	RNF13	MAPT	SQSTM1	SYNGAP1	SLC6A1	KPTN	CHMP2B	VCP	SLC2A1	CHD2	ALDH7A1	SCN1A	CYP27A1	DPAGT1	DOLK	NEXMIF	CNTNAP2	CLN5	AP2M1
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	JRK	SETD1B	GABRG2	SLC2A1	GABRA1	CACNA1H	GABRB3
HP_EEG_WITH_SPIKE_WAVE_COMPLEXES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_SPIKE_WAVE_COMPLEXES	PNKP	ADGRV1	DMXL2	SCN1B	SYT2	AKT3	TRIM8	MYO9A	AGRN	SCN1A	SLC2A1	JRK	NEUROD2	CASK	EFHC1	PRICKLE1	PIGO	AASS	PIK3CA	CHAT	KCNMA1	PIGQ	KCNQ3	CACNA1H	SRPX2	PIGV	GABRG2	SCN2A	SYNGAP1	VAMP1	SLC6A1	SAMD12	CHD2	CACNB4	CLCN2	SYT1	SETD1B	CSTB	PIGW	GRIN2A	CLN5	TBC1D24	ARX	AP2M1	PGAP3	GABRB3	SLC25A1	ADGRG1	KCNA1	STX1B	PAFAH1B1	SLC5A7	PSAT1	GABRA1	GABRD	CDKL5	PGAP2	CILK1	PIGY	SLC18A3	PIGL	PIGP	SNAP25	HCN1	SIK1	COL13A1	SLC25A22	PI4KA	NEXMIF	SCARB2	GRM7	GNAO1	STARD7	SCN9A	CPA6	PIGT
HP_EEG_WITH_BURST_SUPPRESSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_BURST_SUPPRESSION	PNKP	ALG11	DMXL2	UGDH	SLC25A46	FGF13	AKT3	TRIM8	KCNA1	GAD1	PLPBP	SLC13A5	STXBP1	NEUROD2	CASK	CDKL5	SCN1B	PIK3CA	DPM2	ALG14	PIGQ	SCN2A	KCNQ2	PIGP	CUL3	SIK1	ALDH7A1	CYFIP2	PIGS	SLC25A22	NSF	GRM7	GNAO1	ARX	PNPO
HP_DELAYED_FINE_MOTOR_DEVELOPMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_FINE_MOTOR_DEVELOPMENT	CLP1	ITPR1	TET3	CNOT3	APC2	CLCN3	KAT8	TNRC6B	POR	FDXR	KDM4B	SPTBN1	TUBB3	CLCN7	CARS1	CDH2	CDC40	FIG4	MINPP1	EBF3	SNX14	COL12A1
HP_RECEPTIVE_LANGUAGE_DELAY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECEPTIVE_LANGUAGE_DELAY	PUS7	PTPN23	TRIP12	NTNG2	SRCAP	ZMIZ1	SVBP	DDX6	SYNCRIP	FLCN	TRMT1	BCAS3	SH2B1	MADD	MAPK8IP3	SATB1	KDM4B	KCNMA1	PALS1	AGO2	KMT2C	SLC12A2	PSMD12	MED13	DOCK3	FBXW11	WDFY3	RNF2	WASF1	MED27	ACTL6A	ALMS1	CLCN3	HTT	PAK1	UBR7	KMT2E	BPTF	NTNG1	TCF20	SPTBN1	GRIA4	UBB	CNOT3	HPDL	SPATA5	HUWE1	BCORL1	RLIM	ACTL6B	TNRC6B	KAT8	SETD1A	MYT1L	GRHL3	TRAPPC4	EMC10	FOXP2	EHMT1	LMBRD2	CCDC32	DPYSL5	CNTNAP2	JARID2	HS2ST1	TCF7L2	TANC2	ANKRD17
HP_INTELLECTUAL_DISABILITY_SEVERE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTELLECTUAL_DISABILITY_SEVERE	WDR81	SETBP1	FKTN	UNC80	MECP2	KAT6A	DCPS	ARG1	ZEB2	CACNA1I	NCDN	DAG1	SEMA6B	RTTN	CLCN4	PDX1	NDUFA13	MGAT2	KANSL1	RAC3	KCNJ6	AP4B1	AMMECR1	CDH15	INS	L2HGDH	LARP7	ZNHIT3	TSHR	YY1	TOR1A	PAK1	PIGW	NELFA	ACAT1	PNKP	SATB2	NDUFA10	CEP63	PEX5	LETM1	GCK	NDUFS2	CTSD	LMAN2L	PRMT7	FOXRED1	ERBB4	SMARCA4	SURF1	UBE3A	MYT1L	PEX7	RPL10	SOBP	CACNG2	STIL	ARX	AHSG	FOXE1	PLP1	LARGE1	C12orf4	CNTNAP2	CTNNA2	FOXG1	SMC3	ERLIN2	CC2D1A	EHMT1	MBTPS2	KDM5C	SLC12A2	TIMM50	CA2	AKT3	NALCN	CAMK2B	SMARCB1	IQSEC1	WIPI2	FMN2	CPLX1	GRIN1	HNRNPU	ZMYND11	ARHGEF6	L1CAM	SLC35C1	NDUFS4	TRPM3	AP4S1	DLL1	ASH1L	COPB1	PET100	ARID1A	IQSEC2	AP4E1	TCF4	COPB2	AP4M1	RAB3GAP1	TMEM107	SMOC1	HNMT	CHAMP1	SOX11	DEAF1	NDE1	ZNF711	ATRX	PIGV	TELO2	WDR62	ARID1B	POGZ	GABRA5	NKX2-1	NAGA	KIF14	RAB18	SEMA5A	TUSC3	NRXN1	POMT1	GALNT2	NSD2	BRF1	NSUN2	HMGCL	USP9X	SMC1A	NKX2-5	NDUFS8	SLC35A3	DMPK	DYNC1I2	PIGF	ASXL1	ADGRG1	RAD21	EEF1A2	NDUFV2	TMX2	CLIP1	PIK3CA	PRICKLE2	NDUFA4	VPS4A	PTEN	CENPJ	C2CD3	PDHX	RAB3GAP2	POMT2	KCNH1	CIT	WASHC4	PGAP1	ARFGEF2	FGFR3	CAMK2A	NDUFA9	MCPH1	DLG3	UBE3B	PPP3CA	OCA2	NDUFAF2	GAMT	BRD4	CDC40	SET	SMARCD1	PGAP2	SPATA5	SLC6A17	NAA20	FOXP1	ROGDI	MEF2C	SON	TECR	EPB41L1	FBXO31	TSHB	FRMPD4	CTBP1	GOT2	TBC1D20	DYNC1H1	RAB39B	GMPPB	NDUFA12	KIF7	KDM5B	DNMT3A	SETD1B	PRSS12	TUBA1A	PYCR2	SMARCA2	AGTR2	POMGNT1	SLC16A2	KIF1A	GLI3	SASS6	SLC26A4	CEP135	METTL23	ST3GAL3	PEX1	COG5	CLTC	RAB11A	NDUFS7	TFE3	PDHA1	PIGU	FRMD4A	EDC3	MED23	CSNK2B	ASXL3	ACOX1	SATB1	PPIL1	NDUFA2	ECHS1	USP27X	HNRNPK	THOC6	KCNE5	ZNF81	ANKLE2	SRD5A3	OTUD6B	PAK3	SLC19A3	WASF1	PHYH	SNRPN	COX15	NFIX	GATAD2B	MBD5	KAT5	PIGG	FKRP	HSD17B10	HDAC8	PURA	ARID2	ATIC	TRIM8	TBR1	BCAS3	STAT3	MED25	ASPM	PIGC	ALG14	ZC3H14	ZNF41	PUS3	GDI1	MT-ATP6	FTSJ1	UQCRQ	NDUFAF5	TMEM231	UROC1	TRAPPC9	SARS1	MAN1B1	DCHS1	SUCLG1	TTI2	CHRNA7	DLAT	KNL1	LMX1B	PIGL	GRIA3	SLC9A7	CDK6	CUL3	NDUFV1	CNKSR2	EML1	DPAGT1	UBTF	NSD1	TACO1	PIGT	BCAP31	KIF5C	SOX4	UBE4A	METTL5	NACC1	MED12L	SETD2	PPP1R15B	SMARCC2	SPTAN1	UBA5	ACSL4	DMD	CIC	FRRS1L	NANS	PAX8	NBEA	CUX1	KIRREL3	INPP5E	ARHGEF9	MBOAT7	TBC1D23	NIN	SYP	HERC1	DYRK1A	ZNF407	STXBP1	SMARCE1	CRBN	SLC13A5	KLF13	GRM7	TRAPPC14	TSPAN7	TTC5	GRIN2A	LINS1	MED12	EZR	PAH	DYM	APC2	RSRC1	TNIK	IL1RAPL1	FGFRL1	ACO2	NDUFAF6	FAT4	HTT	SCN1A	OPHN1	NIPBL	STAG1	NDUFS3	PCNA	NTRK2	PLEKHG2	PHF6	SDHA	SPTBN4	PPP2R5D	HIVEP2	DPF2	GNB5	OFD1	PGAP3	UFSP2	EXT2	MID2	PAFAH1B1	NDST1	GRIN2B	LIPT1	ALG13	RFT1	MTFMT	RNF2	SYNGAP1	PCDH19	EIF2S3	MFSD2A	UBE2A	CUL4B	STEEP1	SLC9A6	SNX14	TAF13	SHROOM4	ABCC8	SLC45A1	MPDU1	B3GALNT2	CEP152	GRIK2	PIGO	KCNQ5	CRADD	SNAP29	CYB5R3	CACNA1D	ALKBH8	TRMT10A	PQBP1	AIMP1	DOCK8	SLC35A2	UPF3B	RPS6KA3	KAT6B	PHC1	ZIC1	CTNND2	SHMT2	AP1S2	PTCHD1	THOC2	BRSK2	DPYSL5	CDK5RAP2	NDUFS1	PIGY	FTCD	TAOK1	FUCA1	CYB5A	KCNJ11	TMEM237	NCAPD3	TRAPPC6B	NEMF	AP1G1	HCFC1	NEU1
HP_SENSORY_ATAXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SENSORY_ATAXIA	TWNK	NAGLU	FLVCR1	PMP22	DNAJC3	GPI	PRX	RNF170	SH3TC2	PIEZO2	EGR2	MPZ
HP_TENDON_XANTHOMATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TENDON_XANTHOMATOSIS	LDLRAP1	ABCG8	ABCG5	EPHX2	PCSK9	TTPA	CYP27A1	PPP1R17	GHR	LDLR	APOE	APOB	APOA2
HP_ABNORMAL_CIRCULATING_PROTEIN_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_PROTEIN_CONCENTRATION	IFNGR1	NPHS1	FKTN	SLC25A4	PYROXD1	TNNC1	B3GALNT2	UQCRFS1	CHCHD10	AIFM1	DPM2	FAH	HBB	DYSF	KLHL41	HSPG2	COL6A2	SQOR	TMPO	EIF4H	TMPRSS6	SUCLA2	TTC26	C1QBP	EMD	USB1	MT-TN	MYH7	GCK	TWNK	CAV3	PAX2	PTPRO	MYF6	PRDM16	GMPPB	IL12A	TBCD	TRAF3	LAMA2	PHKB	C19orf12	COG2	DEF6	POLG	PRF1	ACADVL	MYH14	FTL	TG	PSTPIP1	RNU7-1	PYGM	CIITA	GOSR2	TIA1	IL12RB1	NLRP3	NEUROD1	UNC93B1	CRPPA	GFPT1	SGCG	ATP6V1A	SLC33A1	STIM1	KY	TKFC	FKRP	CRYAB	COL6A3	PLA2G6	SLC34A3	NUP37	TRAPPC11	IL1RN	ITGB4	MIF	PLG	UROS	POLG2	BLK	PLCE1	MEFV	PDX1	FLI1	XK	GNE	METTL27	INS	GNPTAB	MT-TL1	TRIP4	FHL1	POU2AF1	KCNA1	ERGIC1	GAPVD1	VCP	LACC1	DMD	COL12A1	DNM2	BAG3	PABPN1	POMGNT1	IL37	ELN	POMT1	NR1H4	DES	HLA-DRB1	FARSB	MYPN	QRICH1	COG8	NLRC4	TNFRSF1A	MYBPC3	SLC25A13	FKBP6	SYNJ1	TSHR	CACNA1S	IRF5	SRP54	DGUOK	RAF1	OTUD5	LMNA	B4GALT1	RYR1	POMK	MICU1	DNAJB6	BUD23	PDK3	NFS1	PMM2	DPAGT1	ALG6	DNAJC30	PUS1	SLC34A1	TFR2	STX11	NLRP1	VPS13A	SIL1	TTR	SLC25A42	CCND1	RHAG	VPS37D	IFNG	NLRP12	RHD	RNASEH1	SGCD	NEFL	LYST	MYOT	LDHA	OSGEP	CPT2	CRLF1	POMT2	B4GAT1	SLC40A1	ACTA1	TTN	ZNFX1	ITGA7	COL6A1	ARHGAP24	MATR3	ADA2	SGCA	DPM3	TAF1A	CEL	OCRL	CASK	PLN	GABRA3	EFL1	TBC1D8B	MYL2	KCNJ11	LDB3	ABCC8	PIEZO2	SLC4A1	TSHB	SQSTM1	TICAM1	APOC2	ORAI1	BMPR1A	HNF4A	PAX4	UBR1	LRP12	HLA-DQB1	KBTBD13	DSG2	QRSL1	NUP85	INSR	ALG12	UCP2	HNRNPA2B1	TXNRD2	TPM2	TMEM199	COX16	SLC25A20	STEAP3	NUP107	EIF2AK3	ANO5	FHL2	DGAT1	FKBP14	MYO1E	MTMR14	LARGE1	COL4A3	MAGI2	CCBE1	HLA-DQA1	PPCS	SGCB	NUP133	TPM1	MAD2L2	INPP5K	TAFAZZIN	PITRM1	AGPAT2	HNF1A	CP	HNRNPA1	ACTC1	NPHS2	MSTO1	CAPN3	SCN5A	ACTN2	TK2	SDHD	PHKA2	PLEC	CD244	GGPS1	COQ2	DUOXA2	DNMT3B	BVES	SYNE1	NAB2	BCS1L	MT-TE	NEB	TPM3	STK11	ENO3	PIGA	PTPN22	TRIM32	TMEM43	ARHGDIA	ITK	KIT	GATB	PIK3R5	CAP2	MPI	PSEN2	NOTCH2NLC	RBCK1	ALDOA	NUP93	CAV1	NOS1AP	OTULIN	PIGY	GATC	RFXANK	BAZ1B	SMCHD1	DUX4	RNF168	ATM	ABCC9	TRPV4	SLC25A38	SYK	COQ8B	LTBP4	MPDU1	FOS	TFG	PLVAP	DUOX2	LPL	TRHR	GPR35	RHCE	CFTR	LPIN1	HAND2	COX20	SLC35A2	DCLRE1C	IL36RN	MYH6	MT-CO1	TANGO2	TNFSF15	GAA	STXBP2	ACTN4	CSF2RA	TTC37	ALG2	AP1B1	CCDC115	FGFR3	SLC5A5	DAG1	ISCU	SLC7A7	CLIP2	TCAP	MPV17	TBK1	GTF2IRD1	GATAD1	HNRNPDL	LAMA4	KIF12	COG7	TNPO3	PKLR	COA7	KLF11	BIN1	DPM1	NEXN	LAMP2	G6PD	GTF2I	CTLA4	NCF1	COPA	ADSS1	HINT1	KRT5	TCF4	ALG1	PGAM2	DCXR	WT1	MT-TL2	GNPTG	ALB	SYNE2	RASA1	AP5Z1	PHKG2	CASQ1	COL9A3	FDX2	TSFM	CAVIN1	CA2	LMOD3	SGPL1	WDR4	APTX	WDR73	BCL7B	TRAPPC2L	NFKBIL1	KCNJ18	PRSS1	HLA-DPA1	COL4A1	AMACR	IYD	CCT5	IL6	POMGNT2	CTNNB1	AGL	GFER	FRG1	DOK7	SBDS	PIGN	DNAJC21	TLR3	UBA1	CPA1	SVIL	HADH	NUP160	ALG14	TDP1	CHKB	SLC16A1	ACADM	HADHB	LIPE	CD2AP	SPINK1	NSUN2	XIAP	RFC2	MICOS13	CPOX	EMP2	CD55	TMTC3	SERPINE1	ITGA6	PNPLA2	TMPRSS15	HJV	GLRX5	ISCA1	SLC30A10	SPIB	RFX5	HFE	TNNT2	CPT1A	FARSA	ABHD5	KRT14	RFXAP	MCM10	FOXP3	CSRP3	RAG2	STAT6	AASS	CNBP	BMP2	TFAM	SLC19A1	FLAD1	CFL2	DNA2	PRTN3	COG6	HAMP	PHKA1	SMAD4	HLA-DPB1	MTTP	BSCL2	UNC13D	SETX	B2M	CSF2RB	ATP6V0A2	DSP	PDSS2	C2orf69	RAG1	LAMA1	MLXIPL	FN1	STING1	RRM2B	MGME1	AFP	PRPS1	HAVCR2	DMGDH	LIMS2	LIMK1	VPS33A	MMEL1	HADHA	PIEZO1	PSMB8	MPZ	RXYLT1	KLHL9	CARD10	NOS1	PTEN	SCN4A	TNNI3	TF	POPDC3	IL10	PPARG	AR	MT-CO3	CNOT1	IGFALS	VMA21	PGM1	GIPC1	PRSS2	MYMK	TOR1AIP1	IL6R	COL7A1	SLC34A2	TMEM165	FLNC	APPL1	CRB2	MKS1	ANLN	CASR	ACAD9	TBL2	LAMB2	NEFH	PEX6	FAM111B	ANKRD1	TIMM22	MVK	HHAT	MET	NPPA	TMEM270	SAR1B	SEMA4D	PET100	STAT2	DOLK	KCNN4	ZBTB20	STX1A	RBM20	FTH1	ALG8	AHCY	PSEN1	AGXT	HMOX1	POGLUT1	ITGA3	NGLY1	AP1S1	SLCO2A1	GTF2IRD2	SDHA	PLEKHG5	PRKCD	SLC22A4	BCL10	VCL	ATP6V1E1	CTRC	APOL1	MST1	TPO	NUP205	JAG2	GATA1	KCNE3	TRPC6	ATP5F1D	ANKFY1	INF2	SUGCT	NARS2	MIEF2	DHX16	TRMU
HP_INCREASED_NUCHAL_TRANSLUCENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_NUCHAL_TRANSLUCENCY	TRIP13	MLXIPL	GTF2IRD2	FKBP6	ODC1	BRD4	DHCR7	HDAC8	STX1A	MYLPF	RAD21	LZTR1	VPS37D	BAZ1B	CSGALNACT1	BUB1B	NIPBL	PIGN	ELN	FGFR3	HNRNPK	BCL7B	TMEM270	GTF2I	NCF1	METTL27	BUB3	TBL2	CLIP2	RFC2	BUD23	GTF2IRD1	CEP57	LIMK1	BUB1	EIF4H	DNAJC30	BMPER	GPC6	SMC1A	FIG4	ATN1	SMC3	ADARB1	VAC14
HP_ABNORMALITY_OF_THE_UMBILICAL_CORD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_UMBILICAL_CORD	PHGDH	CCDC22	PACS1	LMNA	GATA6	PIGO	POR	NRAS	TAPT1	MCTP2	FANCF	FCGR3B	PIGV	WASHC5	HSPG2	FOXF1	FANCB	MYD88	DDX6	SERPINE1	ZMPSTE24	PIGW	QRICH1	SMARCD2	F13B	PGAP3	SCARF2	ADGRG6	F7	GNB2	PGAP2	PIGY	RAC2	MKS1	MUSK	PIGL	WNT3	F13A1	HOXD13	ITGB2	WT1	ZNF699
HP_AVASCULAR_NECROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AVASCULAR_NECROSIS	ORC1	SCARB2	IL12A-AS1	DKC1	KRAS	IL12A	FZD2	COL1A1	IFNGR1	FGFR1	MEFV	UFSP2	NOP10	CDH23	COL1A2	NPM1	WNT5A	DYRK1A	EP300	C4A	USB1	TRPS1	TLR4	SIL1	ACTB	GBA	HPGD	ATP7A	PHF6	ADAMTS2	IL10	FN1	COL2A1	ACTG1	UNC45A	RTEL1	KLRC4	MATN3	HLA-B	COMP	EXT1	ARSB	TERT	LMX1B	CLCN7	CREBBP	CCR1	ERAP1	TRPV4	TONSL	DVL3	ZMPSTE24	HBB	TINF2	WRAP53	SRCAP	ELP1	SMAD3	SH3PXD2B	CTC1	IL23R	USP8	MAN2B1	SLCO2A1	INPP5K	ACAN	ADAMTSL2	TERC	FAS	NHP2	TREX1	LMNA	NTRK1	DVL1	PTPN11	PARN	STAT4	UBAC2	SLC2A10
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	BCKDHB	DLD	MICU1	MCCC1	BCKDK	DBT	BCKDHA	BCAT2	MCCC2
HP_ABNORMAL_CIRCULATING_PHENYLALANINE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_PHENYLALANINE_CONCENTRATION	QDPR	GCH1	PTS	PAH	SPR	PCBD1	FTCD
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	COX8A	PSAT1	GLRX5	SLC25A13	SUCLG1	SLC30A10	PCCB	AMT	IRF6	PCCA	MMAA	PET117	SLC7A7	GLYCTK	ALDH4A1	MMAB	PSPH	NFS1	GLDC	SARDH	MMUT	PNPO	GCSH	PHGDH
HP_ABNORMAL_CIRCULATING_GLYCINE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_GLYCINE_CONCENTRATION	PET117	COX8A	SLC7A7	PSAT1	GLRX5	GLYCTK	SUCLG1	ALDH4A1	SLC30A10	PCCB	AMT	MMAB	IRF6	NFS1	GLDC	PCCA	MMUT	MMAA	PNPO	GCSH	PHGDH
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	AASS	MAT1A	PRDX1	MTR	SLC25A13	TTC37	MTRR	AHCY	GNMT	FAH	MICU1	CBS	NADK2	MMADHC	ADK	GUCY2D	MMACHC	PNPO	MTHFR
HP_ABNORMAL_CIRCULATING_METHIONINE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_METHIONINE_CONCENTRATION	MAT1A	PRDX1	MTR	SLC25A13	TTC37	CBS	MTRR	AHCY	MMADHC	ADK	MMACHC	GNMT	FAH	MTHFR
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	ALDH4A1	PRODH	ARG1	COX5A	SLC25A13	ASL	TNFRSF11B	OTC	COX16	NDUFB10	GLUL	COX10	NAGS	MDH1	ASS1	SLC7A7	CPS1	NDUFC2	PDP1	TALDO1	PNPO
HP_ABNORMAL_CIRCULATING_GLUTAMINE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_GLUTAMINE_CONCENTRATION	OTC	COX16	ASS1	SLC7A7	SLC25A13	ASL	TALDO1	GLUL	NAGS
HP_ABNORMAL_CIRCULATING_PROLINE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_PROLINE_CONCENTRATION	ALDH4A1	TNFRSF11B	COX10	PRODH	COX5A	COX16	SLC7A7	PDP1	NDUFC2	NDUFB10
HP_ABNORMAL_CIRCULATING_ARGININE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_ARGININE_CONCENTRATION	ARG1	CPS1	ASS1	SLC25A13	ASL	PNPO
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	ATP5F1A	MT-TL1	COX8A	SLC25A4	PDHX	SLC25A13	MRPL3	POLG	COQ9	PNPLA8	PDHA1	MT-ND2	NDUFA13	MIPEP	FBXL4	MT-ND3	COX6B1	LIPT2	FBP1	MT-ND4	CA5A	MICOS13	KARS1	PC	PDP1	SCO1	MT-ND6	LIG3	NAGS	COX5A	NDUFS4	COX16	MT-TK	NDUFB10	MT-ND5	COX10	TYMP	RRM2B	TRMT10C	SLC7A7	UQCRC2	NDUFC2	TMEM126B	MT-TW	ALDH4A1	MTO1	NFS1	TMEM70	MT-TV	MT-ATP6	MT-ND1
HP_ABNORMAL_CIRCULATING_TYROSINE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_TYROSINE_CONCENTRATION	HPD	TAT	SLC25A13	FAH	PNPO
HP_ZONULAR_CATARACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ZONULAR_CATARACT	GNAQ	BFSP1	BAP1	GJA3	NHS	SEC23A	GJA1	MVK	CFAP410	GALK1	VIM	GJA8	NF2	RTN4IP1	LIM2	CRYBB1	OPA3	HSF4	MAF	CRYBB3	GNA11	SF3B1	PANK4	SLC2A1	CHMP4B	MIP	IMPG2	RECQL4	CRYBA4	CYSLTR2	BEST1	CRYBA1	CRYBB2	KIAA1549	CRYGC	FTL	WFS1	OCRL
HP_ABNORMAL_BLOOD_INORGANIC_CATION_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_INORGANIC_CATION_CONCENTRATION	NF1	GABRA3	FAM111A	MLXIPL	COMT	GNA11	TBCE	CDKN2B	TRPM6	GCM2	PREPL	TCIRG1	GATA3	GTF2I	CTNS	NCF1	SLC25A11	ORAI1	MAX	BTNL2	DGCR6	VHL	HADHA	LIMK1	OSTM1	CAMKMT	EIF4H	PRKAR1A	CDKN1A	CACNA1S	EGF	TRIO	TBX1	GNAS	HADHB	DNMT3A	DLST	CSF1R	ARVCF	NOTCH3	CHD7	ALPL	VDR	UFD1	CASR	CLCNKB	ACADVL	MT-CO3	NSD1	PIGT	SEMA3E	SARS2	CA2	HLA-DQA1	SLC12A3	PDGFRB	CNNM2	HIRA	SETD2	CACNA1C	BCL7B	SDHB	CLCN7	SLC3A1	KCNJ18	PIK3C2A	MDH2	FGF23	TNFSF11	SLC39A14	PPM1B	ALG12	KIF1B	GNB2	CYP3A4	UBR1	TMEM127	GNAS-AS1	SEC24C	METTL27	TBL2	CLDN19	SLC34A1	ESS2	APC2	CDC73	MEN1	RET	SDHD	SLC12A1	CYP27B1	CDKN1C	ELN	PCBD1	TMEM270	SDHAF2	AP2S1	RFC2	FAT4	FARSB	CYP2R1	ADAMTS3	CYP24A1	FKBP6	STX1A	SLC30A10	KCNJ1	KL	FXYD2	CDKN1B	PTH	BAZ1B	DGCR2	SDHC	SLC4A1	BUD23	PDE4D	RMRP	DNAJC30	FOXP3	KCNJ10	JMJD1C	IFT122	GTF2IRD2	SLC5A1	SNX10	CLDN16	CCND1	PLVAP	VPS37D	CCBE1	SLC39A8	LPIN1	LDHA	RYR1	FH	MT-CO1	BSND	HLA-DQB1	BTK	USP53	ATP1A1	SDHA	PTH1R	ALDOB	DGCR8	RREB1	CLDN10	STX16	CDKN2C	EPAS1	CLIP2	GP1BB	GTF2IRD1	HLA-DRB1	CAV1	CLCNKA	TNFRSF11A
HP_ABNORMAL_BLOOD_MONOVALENT_INORGANIC_CATION_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_MONOVALENT_INORGANIC_CATION_CONCENTRATION	TP53	CACNA1S	NOS1AP	GABRA3	HSD11B2	CPOX	KCNJ5	BSND	SLC12A1	IRF4	HMBS	ALG8	TXNRD2	NR0B1	SLC4A1	SCNN1G	WNK4	SCN4A	KCNQ1	SLC34A1	TICAM1	INSR	SCNN1A	TBX5	DSG1	CTNS	CALM1	AQP2	BMPR1A	CYP11B1	NUP214	STAR	UNC45A	PIEZO1	DZIP1L	TRDN	ALDOA	CLCN2	ABCB6	CYP11B2	KCNN4	ALG12	INVS	SLC2A2	SCN4B	CDH23	SCN10A	KCNJ1	AVPR2	CUL3	HSD3B2	FXYD2	KCNJ18	NFKB2	EIF2AK3	CLCNKB	COL3A1	TRAF3	RYR1	KCNE2	LPIN1	DEF6	PRF1	ATP6V0A4	MRAP	MT-CO3	TBX19	CYP11A1	ARNT2	WNK1	KCNE1	KCNJ10	SYK	NR3C2	SARS2	SLC5A1	CYP17A1	MAGED2	SLC12A3	SCNN1B	KLHL3	TDP2	CASR	FGFR1	PLVAP	UNC93B1	CALM2	GATM	SAMD9	EHHADH	ALAD	NNT	AKAP9	CACNA1D	LYST	OCRL	CA12	USP8	MT-CO1	CALM3	AIP	SMAD4	SCN5A	SLC26A3	SLC2A1	SLC30A9	ATP1A1	ELP1	KCNH2	CAV3	KCNE3	NDUFAF6	MC2R	CLDN10	ANK2	NR3C1	CLCNKA	TBK1	TLR3	CACNA1C	KCNJ2	SNTA1	PPOX	PKHD1
HP_ABNORMAL_BLOOD_SODIUM_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_SODIUM_CONCENTRATION	NR3C2	SARS2	SLC5A1	CYP11A1	MAGED2	CPOX	TDP2	SCNN1G	BSND	CYP11B2	FGFR1	IRF4	PLVAP	HMBS	UNC93B1	ALG8	TXNRD2	NR0B1	SAMD9	ALAD	SCN4A	NNT	TICAM1	DSG1	CTNS	AVPR2	LYST	AQP2	OCRL	CA12	NUP214	STAR	DZIP1L	SCNN1B	SLC26A3	ALG12	SCNN1A	HSD3B2	ELP1	NFKB2	EIF2AK3	CLCNKB	TRAF3	MC2R	CLCNKA	TBK1	PRF1	TLR3	MRAP	TBX19	ARNT2	SYK	PPOX	PKHD1
HP_ABNORMAL_CIRCULATING_NUCLEOBASE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_NUCLEOBASE_CONCENTRATION	ALMS1	SEC61A1	SARS2	PRPS1	CLDN16	UMOD	PPARG	SLC37A4	MYC	HPRT1	TNFRSF11A	PFKM	EHHADH	GPHN	G6PC1	SLC34A1	TNFRSF11B	XDH	CTNS	FBP1	SLC22A12	PNP	HNF4A	SLC2A9	MOCS2	ACAT1	SLC2A2	HNF1B	ALDOB	MOCOS	NDUFAF6	MCFD2	MOCS1	MUC1	REN	HMGCL	SH2B1	LMAN1	GATM
HP_ABNORMALITY_OF_THE_LOWER_URINARY_TRACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_LOWER_URINARY_TRACT	RERE	ELN	AR	NOTCH2NLC	ZEB2	GATA4	CDKN1C	RTTN	CLCN4	POLA1	ABCD1	SMG8	GPC3	COX7B	CDC42	MNX1	MYH11	GATA3	FANCC	PEX3	HOGA1	PIEZO2	CYP21A2	ATXN1	EIF4H	UNC45A	TGFB1	FANCF	ERCC4	FANCD2	PAH	MAMLD1	CHRNA2	FBLN5	FZD2	TWNK	NR2F2	IGHMBP2	SMARCE1	B9D1	PRMT7	REEP2	HSD3B2	MYF6	ZIC3	CHRNG	EBF3	SALL4	FGF10	TBCD	CTC1	RPL10	EVC2	NEFL	STIL	SPG7	TRAF7	KCNT1	WT1	ESCO2	NIPA1	POLG	LTBP1	ARNT2	CILK1	FRAS1	ATP7A	SMC3	RAC1	EHMT1	PSAP	PNPLA6	MBTPS2	TIMM50	MED25	CYP17A1	SOX2	SMARCB1	GLI3	CPLX1	FREM2	COLEC10	DNMT1	MAD2L2	SHANK3	RTN2	FANCA	PDGFB	KMT2C	KY	PEX6	COPB1	RPL27	WNT7A	SPTBN1	TNXB	KARS1	NOTCH3	DYNC2LI1	PSPH	COPB2	LAMB3	DDX6	ALMS1	RPL35A	FUS	RTEL1	DYNC2I1	RPS26	ITGB4	WNT4	NIPBL	FLNA	PEX12	MAPT	TMEM94	PDE4D	ZNF711	POLG2	TONSL	ATXN3	WDR62	PLP1	SMS	ARID1B	RPS15A	JAG1	CSPP1	GBA2	RAC2	MARS2	TMEM63A	TERT	METTL27	ALDH18A1	GALNT2	DHCR7	CREBBP	BCOR	PPP1R12A	PIGN	STAMBP	USP9X	DYRK1A	PEX16	SNCA	FIG4	SP110	PIK3CA	SLC44A1	PBX1	RPL15	ADAT3	DNM2	MYL9	KDM6A	DBH	RAD21	CHRM3	AUH	HCCS	ZFPM2	BDNF	TBX1	FERMT1	C2CD3	GMNN	GLUD2	FMR1	CIT	SRD5A2	ZMPSTE24	ARSA	RBBP8	CHMP2B	MCPH1	HOXA13	PAX6	RIPPLY2	PEX26	SLC25A13	FKBP6	HSD17B3	BRD4	MECP2	GBA	SMARCD1	PDCD1	OTUD5	CABP4	FAM20A	MYLK	ZFYVE26	WWOX	BUD23	TERC	MKKS	WFS1	MYOCD	HMBS	FANCE	DNAJC30	GRIP1	SIAH1	CYP11A1	PEX14	NR4A2	HSPD1	PYCR2	CCND1	VPS37D	EP300	RARB	TAPT1	FDFT1	CCNQ	RPS19	FGFR1	PTDSS1	STUB1	TMEM107	CLMP	CCDC8	TP63	MED27	SPAST	TMEM67	SALL1	AVPR2	MKS1	NFIA	TUBB	KLHL40	DVL3	KDM3B	CYB5A	LMOD1	ATP6AP2	MAPRE2	USP27X	VANGL1	PIGQ	ATL1	ORC6	XRCC2	NDUFB11	HNRNPK	THOC6	HPDL	ZNF81	CACNA1G	WDR35	KIAA0753	AFF4	BRCA1	ORC1	GABRA3	PIGG	HDAC8	ORC4	MTOR	SLC5A2	HTRA1	WASHC5	AIP	BRAF	GABRG2	CTBP1	LAMA3	TCTN2	SDHA	TBP	ISL1	HSPA9	UBR1	TFAP2A	PSMD12	MTM1	TBX22	ZMIZ1	ALG12	RPS28	PRKCZ	EXT1	DCHS1	HNRNPA2B1	TMEM237	FANCI	RPL35	KNL1	SEMA3E	MESP2	KPNA3	RPL5	SCUBE3	LRRK2	NEXMIF	MTMR14	ACTG2	CUL4B	FGFR3	UFD1	LSS	DNAJC13	CCBE1	EN1	ITGA6	DACT1	ATXN2	TMEM70	AP5Z1	DKK1	RALGAPA1	SLC12A3	NR5A1	HIRA	NPHP3	LMNA	CEP290	METTL5	PALB2	MYRF	KCNAB2	UPB1	NPM1	COL1A2	ATXN10	DMD	CACNA1H	HYLS1	COG1	FANCG	DSE	ACSL4	PRDM8	MTFMT	VPS11	HLA-B	RPGRIP1L	CUL7	NKX2-1	SETD5	RETREG1	SETBP1	SUFU	PDPN	PLEC	MAP3K7	SRY	DDHD2	REEP1	NSUN2	TBXT	TSPAN7	COL3A1	ELOVL1	MED12	SEC24C	NAB2	COQ2	PAX2	NHP2	FOXC1	CDC45	LTBP4	TMEM231	KIF1A	B9D2	APC2	PEX1	HSPG2	IL1RAPL1	ALS2	HPRT1	PEX11B	MT-TT	PIK3R5	KCND3	SPEN	KIAA0586	BPTF	MAP3K1	FOXF1	SDHB	VCP	UBAP1	PEX5	SLX4	MORC2	BICC1	LRIG2	HBA2	CISD2	BAZ1B	BAP1	TCTN3	ACTA1	CDCA7	KCNC3	NOTCH2	ARX	RNF168	AQP2	MFSD2A	ERMARD	UBE2A	TXNDC15	GALC	ERCC8	KRAS	SIN3A	CHRNA4	GPR101	ATP13A2	CCDC22	GJC2	DMRT3	CEP152	NOP10	UBE2T	PEX2	HACE1	STRA6	SOX17	MED12L	UPF3B	B4GALNT1	PINK1	RPS6KA3	KCNQ1	GPC4	PPP3CA	NDUFA8	ZMYM2	RPL31	FUZ	TTC8	TRAPPC12	TTC37	PTCHD1	RFWD3	PDGFRB	TINF2	ERCC6	DLG3	RPS29	EPG5	B3GLCT	RPL11	FITM2	TSR2	RREB1	CLIP2	HLA-DQB1	NCAPD3	GTF2IRD1	RYR1	OGT	SIX1	SIX5	HCFC1	SACS	DKC1	COMT	BIN1	MYO1H	BNC2	CDC6	PRNP	GATA1	SRCAP	RAD51	KANSL1	FXN	GTF2I	NCF1	DYSF	KCNQ1OT1	SUCLG1	NELFA	RPL18	TRIO	SBF1	CEP63	PITX2	IGF2	LETM1	FANCB	EXT2	MYCN	DNAJC19	SMARCA4	RASA1	COG5	CLCNKB	COLEC11	FANCL	FA2H	COL5A2	SMAD3	PLAG1	MID1	CHD4	TBCK	PTPN11	JRK	EIF2AK2	EFNB1	SLC1A4	HNRNPU	ARHGEF6	DARS2	BCL7B	CCL2	KCNJ18	ARID1A	IQSEC2	C19orf12	FGFR2	EYA1	ABL1	RPS10	GABRB3	FLT4	SLC25A4	GJA1	SOX11	SQSTM1	POR	HNF1B	STAT1	ATRX	PRDM16	CHD7	KIF14	OBSL1	NSD2	FAT4	DVL1	APRT	FKBP14	ARL6IP6	STAR	SMC1A	HBA1	FBXO7	EFEMP2	HEXB	SOX9	SPTLC1	ASXL1	SIGMAR1	VAMP7	NR0B1	TRRAP	KLHL41	USB1	CENPJ	RECQL4	RFC2	SMARCA2	DHX37	LIG4	BUB1B	COL1A1	BICRA	MYMK	CPT1C	HMGA2	BMP4	ATR	FRMPD4	RAB39B	PANK2	RAD51C	TCTN1	GBE1	KCNJ10	KIF7	DLL3	EVC	STAT6	NEB	ERLIN2	RPS24	EPHB4	SPOP	AGTR2	GIGYF2	CAPN1	WNT5A	SASS6	ADA2	SPG11	EIF4G1	PIGO	CC2D2A	RLIM	SDHAF1	BRCA2	DYNC2H1	SDHD	SETX	CDT1	ANKLE2	TRPS1	GP1BB	PAK3	RIN2	PQBP1	PPOX	GATAD2B	KAT5	LMOD3	MLXIPL	HSD17B10	SLC2A1	PLOD1	ARID2	TRIM8	SMAD4	ASPM	PMP22	TMEM216	RRM2B	MCTP2	ZNF41	SCN9A	TYROBP	GDI1	LIMK1	FTSJ1	PRKAR1A	CACNA1S	RPS17	RPS7	VAC14	PUF60	CEP135	TRPV4	NF2	CHRNA3	SIX6	UBE4B	ARCN1	SLC20A2	KIF5A	ARVCF	SLC9A7	GLI1	CDK6	SMO	HOXD13	CDH11	SNCAIP	KDM5B	SH2B1	HUWE1	CNKSR2	FOXP1	FAR1	RPS27	HPSE2	NSD1	AKT1	ZNF699	MAB21L2	SLC35A2	SOX4	SETD2	SMARCC2	ATXN8OS	SAMD9	RPS20	LAMC2	VANGL2	PEX19	LFNG	NBN	CLCN6	MMP23B	POLR3A	HAAO	SYP	FARS2	STK11	GABRA1	TRAPPC14	GNB2	HS6ST2	RAF1	NAA10	RPGRIP1	GREB1L	TBL2	IFT57	RSPO1	ACER3	PARN	CARMIL2	MPZ	FANCM	ADNP	FGFRL1	PI4KA	SPECC1L	FBXL4	IKZF1	POLE	TMEM270	BRIP1	NCAPG2	ROBO2	PEX10	DSTYK	PEX13	DPF2	DYNC2I2	KDM1A	SSR4	CRH	MID2	STX1A	NDUFS4	SLC25A10	COL18A1	MMP1	AGXT	SYNGAP1	CHST14	CASZ1	COL7A1	DEPDC5	ALG13	SYNE1	RPL26	STEEP1	SLC9A6	HNRNPA1	NRIP1	TAF13	JMJD1C	PLD1	GTF2IRD2	FLVCR1	ADH1C	HLA-DRB1	UBA1	DPH1	SPART	MAP2K1	KMT2D	LUZP1	HES7	VPS35	PKP1	COL5A1	TTR	CHRNB2	CFAP43	PHC1	LMNB1	PIGA	CARS1	GABRD	SKI	WRAP53	CDK5RAP2	IFT80	COG7	ALG9	WNT3	PCNT	KIFBP	SMCHD1	ATPAF2	ZC4H2	CYP7B1
HP_ABNORMALITY_OF_THE_NASAL_SKELETON	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_NASAL_SKELETON	USH1G	UBA1	PDE4D	PRKAR1A	SLC25A24	TGIF1	CTNNB1	PTCH1	BRAF	SIX3	PPP1R12A	TONSL
HP_ABNORMALITY_OF_THE_EXTERNAL_NOSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_EXTERNAL_NOSE	RERE	PROM1	OFD1	UNC80	KAT6A	ZEB2	TBCE	TBCK	CLCN4	XYLT1	SMG8	MGAT2	RAC3	GPC3	DOCK7	CKAP2L	FREM1	CDC42	SUMF1	BCOR	PAX3	SPRTN	TGIF1	EXT2	CEP41	TMEM67	HDAC4	TWIST2	FAM149B1	PIGW	GREB1L	ZMPSTE24	TTC26	RPS6KA3	MAB21L1	PAH	RBM10	ODC1	FH	FZD2	B9D1	PRMT7	SLC2A10	NODAL	TWIST1	CDON	EBF3	MYCN	RPL10	BRCC3	FGFR1	PACS1	PTEN	COL1A2	ESCO2	LRAT	TOGARAM1	CRKL	PHF21A	LMNA	SLC7A14	CILK1	MARS2	PCARE	SLC6A9	FRAS1	SC5D	IFIH1	SMC3	TBX4	CLP1	RAC1	EHMT1	MBTPS2	KATNB1	EDA	SNX14	GMNN	HGSNAT	NAA10	SMARCB1	MEG3	SMARCAL1	RARB	CENPT	FREM2	EFEMP2	ATP6V1A	NALCN	PHF8	SHANK3	MED13L	STIL	COG4	SKI	PTCH1	CLCN3	PEX6	LMBR1	SMARCA4	SMC1A	SLC2A1	TONSL	SIX3	SPTBN1	KNSTRN	HRAS	AP4E1	KDM6A	DHX37	PIK3C2A	RAB3GAP1	TCF20	ECEL1	NFKBIA	NIPBL	CD96	PSAT1	TBX1	KCNA1	ZIC2	TMEM94	PDE4D	HDAC6	SCYL2	ZNF711	SMS	ARID1B	WDR35	CRX	ZSWIM6	SYT1	DISP1	KCNN3	KATNIP	ALDH6A1	DHCR7	CREBBP	ARL6	TRIP11	COL11A2	PIGN	CEP57	EDARADD	USP9X	PEX11B	FTO	ESS2	FIG4	GUCA1B	ZPR1	PKHD1	ABCA5	PBX1	CENPJ	SPEN	CERKL	DYNC1I2	ADAT3	RP1L1	LONP1	RTL1	RAD21	GLI3	ADAR	ERF	VPS13B	MAN2B1	PEX13	LIG4	LHX4	FGF20	INPP5E	QRICH1	UBE3B	MGP	RIPPLY2	PAM16	CEP104	BRD4	FGF8	PIGL	FGFR2	AGBL5	CDK19	RUSC2	SMARCD1	SPATA5	RUNX2	CSGALNACT1	SNIP1	FGFR3	PEX16	RAI1	KCNK9	DGCR2	GAS1	FBN1	MICU1	MITF	PMM2	SATB2	MSL3	PRCD	DNA2	GRIP1	TFAP2A	ACTL6B	CHRND	RNU4ATAC	PHIP	PNKP	TLK2	DLL1	HDAC8	CLCF1	FLI1	SCN1B	POC1A	AASS	TUBGCP2	DEAF1	ALX4	KIF11	CRLF1	EP300	TAPT1	DHDDS	ARL2BP	CCNQ	PPP1CB	GBA	TMEM107	TCF4	NOG	CCDC8	MKS1	PIGT	TP63	MED27	CSPP1	FRMD4A	NFIA	TMEM138	TRIP13	GJA5	DVL3	KDM3B	MESD	SETD5	DOCK3	SHH	AP4M1	YWHAE	USP27X	TAF1	PIGQ	AHI1	HNRNPK	THOC6	SOX5	KCNE5	SEMA4A	ZNF81	ACTB	PEX5	RNASEH2A	MECP2	AFF4	ATP6V1B2	KCNJ11	PRPF31	LRP4	PYCR2	EXOSC2	KCNJ2	PARS2	TCTN2	CANT1	APC	SUPT16H	RALA	KRAS	KDM4B	PURA	PRPF3	IFT122	RIPK4	XRCC4	NOVA2	SNRPN	DONSON	SMOC1	IFT140	PEX12	CTCF	AIFM1	CTBP1	STAG2	CHD2	C12orf57	CEP152	MEGF8	RP1	GLB1	ACTG1	HSPA9	CC2D2A	UBR1	NUP188	ANTXR1	PRKAR1A	ZMIZ1	FGD1	INSR	TBC1D24	PRKCZ	VPS51	CENPF	CPLANE1	CDKL5	TMEM237	ZNF148	IDUA	DLX4	PTPRF	AP4B1	GPAA1	MESP2	CERT1	ABCC9	PPP2R1A	NEXMIF	GLI2	ACTG2	HPDL	CUL4B	UFD1	EDEM3	DDX3X	GHR	CENPE	ARID2	BRAF	ADNP	IFT88	FGF3	ASPH	FAM161A	XPA	RALGAPA1	DIS3L2	TFAP2B	COL3A1	HIRA	CRIPT	CEP290	KCNAB2	PDE6A	PPP1R15B	INPPL1	DMD	KLHL7	DHX38	ATP6V1E1	SYNGAP1	COG1	COL1A1	PEX19	ACSL4	ROM1	ITGA8	RPGRIP1L	ARX	CUL7	RDH12	SETBP1	PDPN	DYRK1A	TDGF1	MAP3K7	PRPF6	TSPAN7	MAPK1	MED12	ERCC4	MUSK	SEC24C	ITCH	SUZ12	XPC	SNRNP200	TMEM231	TUBGCP6	MYH3	B9D2	AFF3	EXOSC1	ALG3	HSPG2	IL1RAPL1	GAD1	POGZ	CPLX1	SIX2	TMEM216	PROP1	NHEJ1	NUP85	DDB2	PQBP1	MAP2K1	ZNF423	SNAP29	ANKRD11	GATAD2B	RAB3GAP2	OCLN	RBP3	PGAP3	EFTUD2	CNOT3	KIFBP	PRPH2	SAG	KMT2B	MPLKIP	PIGY	ASXL2	KIAA1109	KIF7	POU1F1	IL2RA	ALG13	FMR1	RNF2	RHO	TCTN3	EBP	NOTCH2	MIR140	BEST1	AP4S1	PLK4	EDNRB	MERTK	MRAS	LBR	UBE2A	TXNDC15	RMRP	COL11A1	SIN3A	PCGF2	ZNF513	PDE6D	HYLS1	SEC23A	KCNJ8	RP9	FSCN2	GLUL	TTC8	SOX11	SUFU	DLK1	ERCC3	MED12L	ARL3	SOX10	ZNF292	ASXL3	ALG9	MBD5	UPF3B	ATN1	INTS1	SLC35C1	ADSL	CLRN1	GPC4	ZMYM2	TRAIP	FOXG1	TTC37	PTCHD1	TULP1	PYCR1	CRB1	DGCR8	ERCC2	RREB1	IQSEC2	SOST	MN1	EXTL3	ADAMTS3	SH3PXD2B	RBM8A	DVL1	CEP55	IGF1	TRIO	HCFC1	KLHL15	ADAMTSL2	CWC27	TGFB3	COMT	PRKACB	CEP120	FLCN	PDHA1	HK1	KANSL1	KCNJ6	FRMPD4	KIZ	AMMECR1	NEK2	TBCD	SCN2A	ARSL	ROR2	ZNHIT3	MAPK8IP3	KDM1A	RYR1	YY1	DOCK6	ALDH18A1	ZBTB24	TOR1A	DZIP1L	AP2M1	IMPG1	MMP2	MAN1B1	ATR	FOXH1	CHRNG	SLC29A3	OBSL1	POMGNT1	PEX14	NFIX	LRP2	EIF2S3	SALL4	MADD	MYO18B	PAFAH1B1	COLEC11	SLC26A2	RNASEH2C	TBX6	NACC1	GNAO1	REEP6	MID1	TUBGCP4	SLC25A24	LRPPRC	WAC	PTPN11	RECQL4	EFNB1	ABCA12	AIMP2	BUB1B	WDR4	ARHGEF6	ABCA4	WDR73	SMG9	FOXC1	ARID1A	PPM1D	TRAF6	BRCA1	PEX1	NF1	OTX2	SPATA7	WDR26	SLC17A5	TOPORS	GJA1	POLD1	BPTF	MED25	NPHP1	POR	ATRX	AUTS2	AGL	TSPEAR	PIGV	PRDM16	RAB18	SMARCE1	NXN	KIAA0586	HOXB1	BBS2	NSD2	BRF1	TBL1XR1	AKT1	CAMTA1	EDN3	ATP7A	EPG5	CNGB1	ANKRD17	KIAA0753	PIGF	ASXL1	ZNF408	NSUN2	CA4	TRRAP	SMARCA2	DDR2	SLC6A1	KCNH1	PDE6G	SLC25A46	LTBP3	DLG3	SIM1	BICRA	ELN	MYMK	COL2A1	SMPD4	IRX5	IMPG2	RGR	CASK	ADGRG6	ERCC5	CDHR1	SMARCC2	FLNA	PGAP2	PIK3R1	RPS19	FOXP1	MEF2C	SCAPER	SIK1	KDF1	TBC1D20	RAB39B	CDK10	EYS	TCTN1	GRM7	PRPF8	NR2F1	PCNT	DLL3	DMXL2	DNMT3A	FLII	HNRNPH2	ARHGEF18	SPOP	AGTR2	PLOD3	ECE1	RBMX	WNT5A	PEX26	KIF1A	TUB	PIK3CD	WNT9B	IFT172	PDE6B	BUB1	SCN1A	TRPS1	PTF1A	ZNF462	ARL13B	PEPD	CLIC2	RDH11	B3GLCT	PIGO	ATP6V0A2	CHRNA1	CFAP418	TBX2	SRD5A3	KMT2A	GP1BB	PAK3	COG6	CIT	KAT5	GDF11	VPS35L	MLXIPL	SOX9	USH2A	NEUROD2	FLNB	MCTP2	PRPS1	ZNF41	KCTD1	CTSK	C2CD3	NR2E3	GDI1	RP2	DGCR6	FTSJ1	CNOT2	NFIB	GNPTAB	IMPDH1	VAC14	KAT6B	PUF60	SLX4	IER3IP1	KMT2D	PIBF1	FAM20C	UBE4B	LMX1B	WRN	ARVCF	KIF14	SLC9A7	AHR	FOXA2	CDH11	PAX7	ALX3	KDM5B	HUWE1	RNF125	CNKSR2	TAF6	DDB1	MPDZ	HESX1	CNOT1	ZNF699	CTNNB1	RET	EDAR	IDH3B	RNASEH2B	SOX4	METTL5	CHRNA7	GNPAT	BMP2	PAX1	EYA1	LFNG	NBN	TBC1D23	SHOC2	GPC6	MMP23B	POLR3A	KPTN	SYP	KIF15	ATAD3A	PTH1R	RPE65	TXNL4A	NRAS	EXT1	AGA	STXBP1	RPGRIP1	NRL	ABCC8	SLC37A4	PEX2	IDH3A	WDR19	LAS1L	PORCN	BUB3	RBBP8	MAFB	RIC1	CHN1	PRKACA	SAMHD1	EXOC2	IFT43	GJA8	TRIM8	MVK	B3GALT6	ALX1	FGFRL1	GNS	IGF1R	CCNK	FBXL4	DPYD	CCDC47	PPP2CA	DPF2	ATRIP	HECW2	CBY1	CPT2	RNF135	ZBTB20	MID2	SCARF2	ADAMTS18	MAK	PLCB3	KIAA1549	SRCAP	RPGR	MEIS2	HS2ST1	CASZ1	CNGA1	TMEM70	HIC1	STEEP1	DHCR24	PIEZO2	PLEC	NGLY1	JMJD1C	BCR	MTX2	RHOA	ARMC9	LETM1	KCNJ5	PPP2R3C	LUZP1	SOX3	BANF1	HES7	TRMT10A	SETD1A	IFT52	MAP2K2	BMPER	PEX10	ZC4H2	CSNK2A1	PIGA	STAT5B	GABRD	PRPF4	ATIC	LEMD2	PPP1R21	EIF5A	RLBP1	PIGP	DNMT3B	ORC4	SLC25A22	TREX1	EDA2R	CAPN15	PEX3
HP_ABNORMAL_NASAL_BONE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NASAL_BONE_MORPHOLOGY	USH1G	PDE4D	PRKAR1A	SLC25A24	CTNNB1	BRAF	PPP1R12A	TONSL
HP_APLASIA_HYPOPLASIA_OF_THE_NASAL_BONE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_NASAL_BONE	USH1G	PDE4D	PRKAR1A	SLC25A24	PPP1R12A	TONSL
HP_ABNORMAL_RENAL_PELVIS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_PELVIS_MORPHOLOGY	OFD1	KAT6A	BNC2	SOX9	CDKN1C	TBCK	ROR2	SRCAP	BRAF	KANSL1	GPC3	CDC42	GATA3	SLC6A17	TBC1D24	ACTB	CTLA4	PEX3	EBP	LMNB1	PIEZO2	LAMA3	YY1	SOS1	LRIG2	ACTG1	PIGW	MED12	UBR1	CHRM3	TTC26	GPC4	FGF13	RBM10	PIGN	PRKCZ	CENPF	CHRNA3	APC	FANCB	ZIC3	RAD51C	MYCN	UBE4B	SEMA3E	PIGL	CHD7	CREBBP	HOXD13	PAX7	FGFR3	SALL4	TOGARAM1	CCBE1	ARNT2	EN1	HPSE2	DDB1	NSD1	ITGA6	MID1	CD81	MED25	CA2	KCNAB2	FGFR1	SETD2	PGM1	LAMC2	ZEB2	PIGV	HYLS1	TP63	WASHC5	TBC1D20	COG1	CLCN3	PEX6	MYOD1	FGF10	PEX19	HLA-DPA1	DSE	LAMB3	FOXF1	DDX6	FAM20C	EYA1	MMP23B	DYNC2I1	MIA3	ITGB4	TASP1	FLNA	PEX12	SETBP1	PDPN	TBX1	PLEC	SHANK3	POR	PRDM16	NSUN2	RAB18	ARID1B	KCTD1	NXN	GREB1L	PORCN	GNB1	DHCR7	BRF1	NSDHL	DYRK1A	LTBP4	MASP1	PEX16	PTPN22	ATP7A	ATP6V1B2	APC2	PEX1	KIAA0753	HSPG2	FGFR2	MYL9	KDM6A	RTL1	SPEN	KAT6B	RERE	G6PC3	GLI3	PEX11B	TRRAP	RAB3GAP1	MAP2K1	USP9X	RECQL4	B3GALT6	NCAPG2	RAB3GAP2	PEX10	PEX13	DYNC2I2	LIG4	PEX5	PGAP3	CPT2	PEX26	MYMK	PGAP2	OTUD5	RAB23	SHH	HNRNPK	CHST14	KRAS	CASZ1	ARL3	MKKS	BCOR	WFS1	MBTPS2	ERCC8	CRTAP	ATRX	TFAP2A	NRIP1	PLD1	FLI1	PEX14	CCDC22	MEG3	ACTG2	NF1	ERBB3	TBX18	PIGO	NBN	DVL1	EP300	NDUFAF3	TAPT1	SPART	STRA6	DLK1	KMT2D	XDH	PRTN3	PEX2	LUZP1	SOX17	TBX15	GEMIN4	NAA10	ATN1	RORA	MAP2K2	IPO8	HLA-DPB1	B4GAT1	POLR3A	PPP3CA	POLE	ZMYM2	NFIA	IARS1	B3GLCT	SPINK5	MAP3K7	LMOD1	CTNNB1	ERCC6	GABRD	SKI	PIGY	GRIA3	IFT80	COG7	DYNC2H1	ALG9	WNT5A	SIX1	RNU4ATAC	SIX5	WDR35
HP_FETAL_PYELECTASIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FETAL_PYELECTASIS	TBCK	KANSL1	FGF13	CLCN3	MYL9	BNC2
HP_ABNORMALITY_OF_THE_FETAL_CARDIOVASCULAR_SYSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_FETAL_CARDIOVASCULAR_SYSTEM	CCDC22	PACS1	SCARF2	UQCRFS1	GNB2	GATA6	PIGO	POR	PGAP2	NRAS	PIGY	HSPG2	TAPT1	MCTP2	FANCF	MKS1	PIGV	PIGL	WNT3	FANCB	WASHC5	HOXD13	FOXF1	DDX6	PIGW	QRICH1	WT1	ZNF699	PGAP3
HP_NONCOMMUNICATING_HYDROCEPHALUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NONCOMMUNICATING_HYDROCEPHALUS	BICRA	TSC1	FOXJ1	TSC2	KDM4B
HP_DILATATION_OF_THE_BLADDER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DILATATION_OF_THE_BLADDER	MYH11	NKX2-1	ACTG2	MYLK	FOXF1	MYL9	AQP2	LMOD1	TP63	MYOCD	AVPR2
HP_CONGENITAL_POSTERIOR_URETHRAL_VALVE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_POSTERIOR_URETHRAL_VALVE	CHRM3	SRCAP	APC2	SETD2	BNC2	IGF2	NSD1
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	CPT2	PEX7	PEX13	PEX19	PEX2	PHYH	PEX1	PEX11B	ABCD1	PEX14	PEX5	PEX10	PEX3	PEX6	PEX12	PEX16	PEX26
HP_ABNORMAL_CIRCULATING_FATTY_ACID_ANION_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_FATTY_ACID_ANION_CONCENTRATION	CPT2	COL7A1	ACAD8	SLC22A5	ACADM	HADHB	DLD	COX16	SLC25A20	SLC52A1	MMP1	EHHADH	SLC34A1	NDUFAF6	ACADVL	ACAD9	TANGO2	MT-TE	NADK2	HMGCL	LMBRD1	MMACHC	HADH	SCO1	HADHA	ACADS	CTNS	GATM	TRMU
HP_ABNORMALITY_OF_GLYCOLIPID_METABOLISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_GLYCOLIPID_METABOLISM	HEXB	MCOLN1	PSAP	LPIN1	GLA	KHK	ARSA	MT-CO3	HEXA	MT-CO1	GM2A
HP_ANEMIA_OF_INADEQUATE_PRODUCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANEMIA_OF_INADEQUATE_PRODUCTION	APC	EFL1	WAS	OPA1	HBB	RPS7	UQCRFS1	GATA1	RAD51	LPIN2	DNM1L	SLC4A1	YARS2	FANCC	CP	MMADHC	RPL35A	TOR1A	PIEZO1	PSMB8	RPL18	RPS17	UMPS	FANCF	PNPO	TMPRSS6	ERCC4	FANCD2	RPS28	PHGDH	CARD10	TPI1	ALDOA	ATRX	HSCB	RPL35	HBA1	TF	DNAJC19	EIF2AK3	TET2	CUBN	HPRT1	ELMO2	RPL5	SMPD1	KCNQ1	RIPK1	CLCNKB	SHPK	TREX1	FANCL	RPS27	SMAD4	ZNF699	PSTPIP1	FDX2	MTR	ALAS2	HLA-DQA1	SLC12A3	ABCD3	HBD	SRD5A3	PALB2	SLC46A1	IREB2	RPS20	RMRP	MAD2L2	FANCA	TRNT1	RPL27	FANCG	TKFC	RPS14	HBA2	KARS1	KCNE1	ACVRL1	RPS26	MMACHC	MTRR	RPS10	FGF23	KLF1	STK11	FECH	SLC19A2	RPS15A	SLC37A4	RPS24	SBDS	RAC2	DNAJC21	HK1	CDAN1	GALNT2	LARS1	RPL26	FANCB	UBA1	FANCI	RPS29	MYD88	FANCM	TGFB1	RPL15	MVK	DHFR	CLPX	SEC23B	FAS	LMBRD1	BRIP1	SAMD9L	BPGM	CD55	MTHFD1	SLX4	PRDX1	KCNN4	ASXL1	TSR2	CASP10	IRX5	SLC25A10	GDF2	SRP54	SFXN4	MMP1	RPS19	FARSA	FTCD	CDIN1	RPL11	CAT	COL7A1	WIPF1	TEK	HSPA9	WFS1	RAD51C	FANCE	FOXP3	ATP6AP1	PUS1	TCN2	FASLG	SLC19A1	RHAG	UBE2T	AMN	RHD	RHCE	ADA2	SRSF2	SLC25A21	PLA2G4A	SF3B1	FN1	SLC35C1	ABCB7	SLC29A3	HLA-DQB1	RPL31	COL2A1	HBG1	RFWD3	LCAT	DAXX	BRCA2	XRCC2	COX10	ENG	ISCU	AGGF1	COX4I2	LARS2	BRCA1	CBLIF	C2orf69	KIT
HP_ABNORMAL_MYELOID_LEUKOCYTE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MYELOID_LEUKOCYTE_MORPHOLOGY	CIITA	IFNGR1	FASLG	DKC1	IL7R	WAS	TNNC1	RPS7	GATA1	RAG2	BAG3	HAX1	NEXN	IL6ST	CTLA4	AK2	TERC	IFNG	PNP	TMPO	MYH9	TCF3	LAMTOR2	RPL18	ELANE	ERCC3	MPLKIP	TAFAZZIN	RAG1	USB1	FIBP	HSCB	TRAC	CD3D	PRDM16	XIAP	TET2	CTC1	CASP10	TRAF3	USP8	SLC29A3	GTF2E2	NABP1	NEU1	PRF1	FANCG	BLNK	BCR	PDGFRB	FDX2	PACS2	TFRC	FANCC	LRRC8A	FKTN	IGHM	FUT8	SBDS	NLRP3	SMARCAL1	STAT3	CDH23	UNC93B1	SLC46A1	SGCG	SREBF1	RMRP	STX11	SLC35C1	COG4	SLC35A1	RPL27	HLA-DPA1	TONSL	JAK1	LYST	MSN	SRP54	RPL35A	MMACHC	RPS10	LCP2	RTEL1	IL1RN	RPS26	STAT1	TARS1	RPS15A	GLB1	MEFV	RAC2	DNAJC21	IGLL1	NPC2	TLR3	NCF4	GATA2	LRBA	MYD88	IKBKG	DMD	RPL15	CARD9	BCOR	LMNA	EXTL3	LIPA	FAS	VPS13B	RPS17	SAMD9L	DES	DNMT3B	LBR	HAVCR2	SMARCD2	LIG4	CYBB	TCN2	PML	MYBPC3	PRDX1	CLPB	KIT	PCCB	FANCD2	RFX5	CDC40	RAF1	TNNT2	HELLS	RPS19	MYPN	ATRX	ABHD5	AP3B1	ITCH	ANAPC1	PMM2	RFXAP	FOXP3	CSRP3	SH2D1A	RNU4ATAC	TFR2	SPINK5	NLRP1	CYBC1	BCL11B	CEBPE	MMUT	TDP2	RPS24	TERT	SLC19A1	PCCA	ABL1	MMAA	CSF3R	SGCD	ADA2	SRSF2	PRTN3	CXCR2	MMAB	PIK3R1	UNC13D	ADA	STK4	HLA-DPB1	CXCR4	BTK	ZNFX1	IRAK4	PPIL1	NPM1	MYSM1	FIP1L1	PDGFRA	SMPD1	DSP	GFI1	DDX41	HLA-DRB1	ASXL1	AMN	MVK	TAF1A	SAMD9	PLN	EFL1	ABCD4	TBX21	LDB3	RFXANK	PRKCD	CD79A	TICAM1	ZBTB24	ZNF341	BTNL2	OSTM1	DOCK8	DSG2	PGM3	RPS28	CARD10	STAT5B	TXNRD2	CRYAB	RAB27A	TNNI3	FANCI	RPL35	CARD11	CD40LG	EIF2AK3	BACH2	NCF2	FHL2	PIK3CD	RPL5	CD247	NRAS	VPS33A	RPS27	PPCS	FANCE	FANCA	AP3D1	CD27	TPM1	MAD2L2	MDM4	SLC37A4	CD3E	PRKAR1A	TPP2	RPS20	FCGR3B	ACTC1	CYP26C1	MYH7	HLA-B	APOE	CAPN3	SLC7A7	SCN5A	ACTN2	AGA	GTF2H5	NSUN2	CDCA7	ERCC2	RPL26	NHP2	PARN	GINS1	ZBTB16	TCIRG1	CD79B	ANKRD1	PTPN22	CYBA	RUNX1	NCF1	MTRR	ICOS	G6PC3	FBXL4	DCLRE1C	CAP2	IKZF1	IL2RG	RARA	STXBP2	LMBRD1	RASGRP1	VPS45	ACP5	PSEN2	KRAS	ASAH1	CD40	DOLK	RECQL4	RBM20	OTULIN	CHD7	GSS	TTN	PSEN1	RNF113A	FTCD	RPL11	JAGN1	HTRA2	CUBN	WIPF1	UBE2A	MECOM	ABCC9	SEC61A1	NUMA1	CBL	GPI	SDHA	NOP10	FMO3	ETV6	VCL	RPS14	NPC1	HAND2	SLC27A4	SF3B1	TBL1XR1	IL36RN	MYH6	IPO8	IRF2BP2	RPL31	ZAP70	TINF2	WDR1	WRAP53	RPS29	TSR2	TCAP	TBK1	GATAD1	RBM8A	LAMA4
HP_B_LYMPHOCYTOPENIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_B_LYMPHOCYTOPENIA	RAG2	IGHM	RAG1	ALG12	REL	STAT1	DOCK8	MYSM1	RIPK1	WDR1	JAK3	ICOS	ADA	NHEJ1	NBN	IL2RA	NFKB2	IKZF3	TCF3	BTK	PIK3CD	RAC2	TRNT1	FCHO1	UNC119	IVNS1ABP	GFI1	KNSTRN	MYD88	DCLRE1C	IKZF1	MCM10	LRBA	SYK
HP_ABNORMALITY_OF_LIPOPROTEIN_CHOLESTEROL_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_LIPOPROTEIN_CHOLESTEROL_CONCENTRATION	CREB3L3	APOC3	ABCG8	ALMS1	SLC25A13	TMEM43	ABCA1	TTPA	LPL	LCAT	SMPD1	APOA1	MSMO1	LDLR	LMNA	CYP7A1	FDFT1	PPARG	ABCA2	APOC2	FHL1	LIPA	SAR1B	NGLY1	PPP1R17	CETP	GHR	PSMB8	APOB	APOA2	SYNE1	LDLRAP1	MTTP	LIPC	ALB	EPHX2	PCSK9	TMEM199	CCDC115	UBR1	APOA5	GPIHBP1	B4GALT1	CEP19	SYNE2	SLC7A7	GALNT2	PANK2	ANGPTL3	EMD	CELA2A	ALG6	APOE	ABCG5
HP_HYPERLIPOPROTEINEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERLIPOPROTEINEMIA	APOC3	ABCG8	SLC25A13	TMEM43	TTPA	LPL	SMPD1	LDLR	LMNA	CYP7A1	ABCA2	APOC2	FHL1	LIPA	PPP1R17	CETP	GHR	APOB	APOA2	SYNE1	LCAT	LDLRAP1	LIPC	ALB	EPHX2	PCSK9	TMEM199	CCDC115	UBR1	APOA5	GPIHBP1	CEP19	SYNE2	SLC7A7	EMD	CELA2A	APOE	ABCG5
HP_HYPOLIPOPROTEINEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOLIPOPROTEINEMIA	CREB3L3	APOC3	ALMS1	MTTP	SLC25A13	ABCA1	LMNA	LCAT	SMPD1	APOA1	MSMO1	B4GALT1	FDFT1	PPARG	CEP19	APOA5	SLC7A7	LIPA	GALNT2	SAR1B	PANK2	ANGPTL3	NGLY1	CELA2A	ALG6	APOE	PSMB8	APOB
HP_POLYGENIC_INHERITANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLYGENIC_INHERITANCE	BMP4	GNB1	TAL1	SDC3	BCR	NUP214	CST3	POMC	ABCG8	PPARG	NLRP1	GHRL	NR0B2	AGRP	UCP3	SERPINH1	CARTPT	ADRB2	TP53	CFH	TAL2	IRF6	ENPP1	STOX1	SHANK3	APOL1	ADRB3	NBN	BAX	FLT3	A2ML1
HP_DIGENIC_INHERITANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIGENIC_INHERITANCE	GDF3	LRIF1	GDF6	SLCO1B3	GJB6	GJB3	DYNC2H1	SMCHD1	SLCO1B1	ADH5	DNMT3B	GJB2	NEK1
HP_GONOSOMAL_INHERITANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GONOSOMAL_INHERITANCE	FAM50A	POF1B	MECP2	OPN1LW	WAS	AR	CLIC2	NYX	CDKL5	AIFM1	POLA1	ABCD1	PDHA1	GPR101	BMP15	GPC3	COX7B	FRMPD4	KIF4A	LAMP2	G6PD	HPRT1	GPRASP2	NLGN4X	EBP	SYP	MBTPS2	PTCHD1	PRPS1	SOX3	MED12	ATP2B3	LAS1L	AMER1	FMR1	GPC4	GATA1	BGN	FGD1	RPS6KA3	FGF13	EMD	IGF2	GPR143	MAMLD1	POU3F4	TAFAZZIN	ATP7A	RP2	PDK3	FANCB	ZIC3	NHS	TBC1D8B	CSF2RA	CD40LG	CACNA1F	OCRL	GDI1	XIAP	FTSJ1	TBX22	NSDHL	CNGA1	ARX	GRIA3	IKBKG	NEXMIF	EIF2S3	CUL4B	HUWE1	CFP	F9	DDX3X	BRWD3	TMLHE	DAZ1	BCAP31	NR0B1	SH3KBP1	SMC1A	SLC35A2	MAGED2	ALAS2	USP9X	EDA	CLCN5	FGF16	TRAPPC2	DKC1	VMA21	SRY	CHM	FHL1	CNKSR2	PHF8	COL4A6	FLNA	OFD1	SMS	PLP1	MSN	ARHGEF9	PHKA2	NDP	PRY	DNAAF6	GJB6	CDY1	UBQLN2	AMELX	UPF3B	ARSL	NLGN3	OPN1MW	ZDHHC9	HMGB3	HDAC8	HDAC6	ATRX	HS6ST2	OTC	NAA10	PCDH19	ATP11C	NDUFB11	DMD	LRAT	STAG2	IQSEC2	XK	PORCN	USP9Y	SLC9A7	RBM10	TSPAN7	ADGRG2	BCOR	PGK1	RPGR	IL1RAPL1	RS1	GPR179	RBMY1A1	ROM1	PLS3	SMPX	DAZ3	SYN1	HSFY1	HCCS	THOC2	GK	KDM6A	TAF1	TEX11	SHOX	FOXP3	HCFC1	DIAPH2	TBL1Y	ATP6AP2	STS	AIPL1	PHF6	HSD17B10	CFAP418	MAGT1	DAZ2	L1CAM	ACSL4	ARR3	SSR4	CYBB	STEEP1	CLRN1	KDM5C	RAB39B	RPL10	TSR2	GLA	KDM5D	RNF113A	CCDC22	CASK	FRMD7	USP27X	ALG13	OTUD5	OPHN1	IGSF1	EFNB1	VCY	TIMM8A	TBL1X	DCX	CFAP47	BCORL1	NONO	DDX3Y	MTM1	MSL3	ATP6AP1	SLC9A6	TLR7	SH2D1A	SHROOM4	IL2RG	MAOA	IGBP1	HNRNPH2	LAGE3	RBP3	UBA1	NDUFA1	CLDN2	RBMX	SLC16A2	SLC6A8	BTK	NKAP	CLCN4	CCNQ	AVPR2	WDR45	BPY2	ANOS1	TFE3	MID1	PHKA1	ABCB7	COL4A5	ZC4H2	CRX	IRS4	PHEX	PIGA	AP1S2	ZNF711	RLIM	UBE2A	DLG3	PDE6G	CHRDL1	PAK3	PRICKLE3	GJB2	IDS	GJB1	AFF2	RPS4Y2	MID2	OGT	CDY2A	PQBP1	CRB1	PRY2	AMMECR1	KLHL15	F8	ARL6
HP_ABNORMALITY_OF_THE_EXTRINSIC_PATHWAY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_EXTRINSIC_PATHWAY	MPI	SERPINC1	VKORC1	ALG6	SRD5A3	DPM1	F7	DPAGT1	PMM2	AHCY	MGAT2	SLC37A4	ALG8	DPM2	PGM1	GGCX	B4GALT1
HP_ABNORMALITY_OF_THE_INTRINSIC_PATHWAY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_INTRINSIC_PATHWAY	SERPINC1	VWF	F9	SRD5A3	MGAT2	BRAF	ALG8	DPM1	DPM2	PTPN11	PGM1	ATP6V1A	MAP2K1	MPI	ATP6V1E1	ALG6	F12	NGLY1	ATP6V0A2	SOS1	F8	LMAN1	PMM2	GGCX	ALG12	LZTR1	AHCY	SLC37A4	F11	B4GALT1	MCFD2	VKORC1	DPAGT1
HP_ABNORMALITY_OF_THE_COMMON_COAGULATION_PATHWAY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_COMMON_COAGULATION_PATHWAY	STX11	NUMA1	F10	BCOR	CFH	PRKAR1A	EPB42	BRAF	STAT3	PTPN11	F13B	MAP2K1	RARA	XIAP	HAVCR2	LYST	NGLY1	TBL1XR1	UNC13D	SERPINE1	SLC4A1	STXBP2	LMAN1	NLRC4	F13A1	GGCX	CD46	PML	IRF2BP2	FGG	ALG12	PLG	STAT5B	MGAT2	ANO6	NPM1	HELLPAR	FIP1L1	AHCY	ANK1	SLC37A4	SPTA1	F5	SERPINC1	CFI	MCFD2	NABP1	VKORC1	SLC7A7	MPI	FGA	PRF1	ALG6	MCM10	ZBTB16	SPTB	FGB	GNA14
HP_ABNORMAL_MORPHOLOGY_OF_THE_ABDOMINAL_MUSCULATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_THE_ABDOMINAL_MUSCULATURE	RTL1	RASA2	GPC3	SLC25A24	CD96	TBCK	COLEC10	MEG3	CHRM3	XYLT1	MTOR	RRAS	CDKN1C	MRAS	SPECC1L	BRAF	RIT1	DLK1	FBN1	PPP2R3C	MYH3	RAF1	CHST14	KCNQ1OT1	FOXF1	MASP1	KRAS	IGF2	HNRNPA1	SOX6	SOS1	KCNQ1	GNPTAB	GPC4	EZH2	CHRNG	FLNB	SPRED2	SKI	CANT1	PTPN11	COLEC11	MCOLN1	B3GLCT	PIGQ	COL3A1	NRAS	SOS2	H19	PORCN	ELMO2	ACTG2	CBL	DIS3L2	RRAS2	MANBA	SHPK	RMRP	ATP7A	LZTR1
HP_ABNORMALITY_OF_THE_CEREBRAL_SUBCORTEX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_CEREBRAL_SUBCORTEX	NDE1	FAM111A	ZEB2	CACNA1I	NCDN	RTTN	RB1	HYLS1	SRPX2	ABCD1	DPM2	RAC3	GPC3	COX7B	CDC42	TAF2	ENTPD1	TGIF1	CEP41	CDH2	MED27	FAM149B1	PAK1	ERCC3	SIX3	NDUFA10	KATNB1	SUCLA2	PAH	RBM10	GTPBP2	ODC1	PTCH1	TWNK	ISCA2	PRMT7	MT-ATP6	MYT1L	TBCD	TECPR2	LAMA2	RNF13	STIL	COG2	EMC10	POLG	TOGARAM1	DIAPH1	HESX1	CTNNA2	CDON	CC2D1A	ARV1	TRIP12	TIMM50	MED25	NTN1	NRAS	PUS3	SMARCB1	GLI3	SIN3B	KIDINS220	ATP1A2	PDGFB	KMT2C	GALC	CLCN3	PSAP	SMARCA4	PET100	IBA57	NODAL	ASPA	NOTCH3	COPB2	FBXW11	DDX6	PIK3C2A	RAB3GAP1	PDP1	RNASEH2B	MAPT	TCF20	CHAMP1	RMND1	UBA5	SLC39A14	RNASEH2C	SCYL2	TARS1	POLG2	AMT	PLP1	ARID1B	REPS1	GABRA5	RAB3GAP2	DEGS1	CSPP1	ALX3	GTPBP3	DISP1	RLIM	WT1	ZDHHC9	ALDH6A1	GALNT2	STAMBP	NKX6-2	DYRK1A	FIG4	DCDC2	SLC44A1	ARNT2	ETHE1	SPEN	VWA3B	DYNC1I2	ADAT3	MYL9	ADGRG1	LONP1	KAT6B	PLAA	AUH	POMGNT1	PIK3CA	VPS13B	GLUD2	PDHX	PMS2	VARS1	FKTN	ARFGEF2	LHX4	OFD1	ARSA	MCPH1	OCA2	VAX1	CLPB	CEP104	LSM11	FGF8	CSF1R	HPDL	FANCD2	SET	RUSC2	SMARCD1	SPATA5	HIBCH	RAI1	MTRFR	GAS1	ERCC6	RRM2B	MICU1	GBA2	ACTL6B	RNU4ATAC	PNKP	PUS7	STX11	SPATA5L1	MFF	FLI1	VPS13A	CYP11A1	SETD1B	NR4A2	FLVCR2	CNP	TUBA1A	SYNCRIP	SCN1B	TUBGCP2	DEAF1	PSEN1	TUBB2B	PDGFRB	AGO2	HTRA1	FKRP	EMC1	TMEM107	OSGEP	ERCC8	PDHA1	RAB11A	MT-ND6	FRMD4A	POMT2	B4GAT1	MKS1	SHH	TMEM260	TRIP13	PGAP1	EP300	SPTBN1	KDM3B	NECAP1	CLTC	GPX4	MAPRE2	YARS1	DISC1	GNAO1	NDUFB11	HNRNPK	KAT8	CACNA1G	SLC19A3	CDK8	PYCR2	TUBA8	POLR3GL	KCNMA1	YIF1B	SUPT16H	PRNP	KDM4B	KCTD7	KIF1A	PIGG	CYP7B1	SCO2	AIFM1	CTBP1	STAG2	MBTPS2	TCTN2	GLB1	CC2D2A	LRP12	LIG3	NAGA	MT-TW	NUP62	ZMIZ1	TRAPPC9	GATA3	TMEM216	ALG12	JAM2	CENPE	CENPF	DDX3X	HIKESHI	CDK5	CDKL5	PSMG2	TMEM237	ZNF148	GABRA2	FANCI	CYP27A1	TNRC6B	LARGE1	FTL	FOXP2	ATP1A3	HMGCL	PLA2G6	TACO1	AP3B2	GABRB1	ADORA2A	PRRX1	TMEM70	RALGAPA1	COL3A1	CEP290	KCNAB2	FGFR1	PPP1R15B	SPTAN1	CIC	GLI2	HCN1	SELENOI	ACTL6A	VPS11	POMT1	NKX2-1	CPLANE1	SMO	SETBP1	B9D1	SHANK3	DDHD2	NSUN2	ATXN2	TMEM106B	NDUFA6	HIVEP2	PAFAH1B1	SOX10	GRIA4	HS2ST1	TGFB1	RSRC1	SRCAP	DLL1	HSPG2	DPYD	CPLX1	SOX2	MT-TT	SNAP29	VPS16	MRPS25	SPTBN4	PC	MT-TS2	GMPPB	XPR1	KATNIP	PHGDH	CNOT3	KIFBP	TUBB	STXBP1	KIAA1109	KIF7	TAF1	TCTN3	SLC12A2	FAM126A	DCX	RNF168	ERMARD	MT-ND5	TXNDC15	ACOX1	MT-TV	SIN3A	ATP13A2	KRAS	PDE10A	GJC2	PDE6D	KDM5B	GRIK2	TRAPPC12	PRUNE1	CRADD	GLUL	PDHB	MRPS22	MED12L	ARL3	C12orf57	ASXL3	ATN1	MOCS2	STXBP2	SEC31A	PEX16	NDUFA8	SLC25A15	FUZ	MAN1B1	FOXG1	PDYN	MED12	ANKLE2	EARS2	NDUFS1	B3GLCT	CA2	DAG1	TOE1	MDH1	IQSEC2	GLYCTK	TRAPPC6B	TMEM67	OTUD6B	DALRD3	SACS	TRAPPC11	OPA1	ALX4	SZT2	FLCN	TSEN54	POLR3K	BRAF	HK1	KANSL1	CCDC88A	ITGB6	FRMPD4	AP4B1	MT-ND3	CDH15	SCN2A	TIMM8A	ATXN3	WDR45	SUCLG1	NTRK2	MLH1	AHDC1	HCCS	SYT2	GPC4	MPLKIP	LAMB1	MSTO1	LETM1	MT-TH	YY1	FOXRED1	FOXH1	DCC	SURF1	UBE3A	LRP2	FA2H	ZSWIM6	SLC25A24	TBCK	SMC1A	TDGF1	NALCN	GRIN2A	CAMK2B	RECQL4	CASR	ARHGAP31	MTOR	SLC1A4	SNCA	AIMP2	MAPK8IP3	HNRNPU	BUB1B	ZMYND11	L1CAM	IRF2BPL	WDR73	NDUFS4	CACNA1A	ARID1A	ASH1L	LYRM7	COL4A1	C19orf12	AP4M1	OTX2	HNMT	WDR26	SLC25A4	GJA1	BPTF	NPHP1	MT-CO2	PRDM16	POGZ	ZIC2	CEP120	KIF14	RAB18	VPS53	PIGN	POU1F1	PROKR2	CYP2U1	SLC2A1	CWF19L1	NSD2	NDUFAF3	CCDC32	FAT4	RPGRIP1L	NDUFS8	SAMHD1	ASXL1	CCDC174	ERLIN2	RERE	POLR2A	GNAS	EHMT1	LSS	TMEM251	TRRAP	PANK2	USP9X	LNPK	EEF1A2	FGFR3	KCNA2	TMTC3	SLC25A46	LIG4	PRR12	KIAA0753	BMP4	ATR	FARSA	ATP8A2	SIK1	FGFR2	TBC1D20	DYNC1H1	NONO	CDK10	POMK	GRM7	NR2F1	PCNT	CD96	PRSS12	VPS13D	VPS41	ZIC1	COASY	DNM1	SASS6	COG6	ARX	SMARCA2	GPT2	PRKN	ZNF462	ARL13B	CSNK2B	NARS1	ANKRD11	TMEM222	KIF2A	NEXMIF	GRIN1	PYCR1	SLC13A5	UNC13D	UBE2A	RNASET2	AIMP1	DYNC2H1	PRKDC	PDSS2	RFT1	NFIX	WDR35	GATAD2B	CIT	MOGS	ARID2	ZBTB18	NEUROD2	ALG8	ASPM	GRN	ZC3H14	TSEN2	MT-CYB	PRPS1	TYROBP	CHMP2B	TREM2	ATP6V1A	SLC12A6	PSMB8	NDUFAF5	VAC14	PUF60	PROP1	CEP135	SARS1	IER3IP1	C9orf72	NUS1	PDE8B	DLAT	UBE4B	SCN8A	SLC20A2	FOXA2	CREBBP	NHLRC2	RAD51	HUWE1	IDH1	ACTA2	TANC2	EOMES	CHMP1A	KIF5C	SOX4	BCAS3	SMARCC2	SHOC2	TSEN34	MBD5	SLC5A6	CNKSR2	UBTF	RAC1	SEPSECS	CUX1	KIRREL3	POLR3B	MBOAT7	TBC1D23	MMP23B	SOX3	GTF2H5	AMPD2	CRBN	SUFU	DACT1	RPGRIP1	MEF2C	PNPT1	UPF3B	TYMP	ACTG1	ACER3	VAMP2	GLDC	SPG7	HRAS	WWOX	MAF	TRIM8	SPG11	ADNP	CRPPA	TNIK	ALX1	FGFRL1	NDUFAF6	HHAT	HTT	SPECC1L	FBXL4	CCDC47	MAP2K2	PLEKHG2	EXOC8	PPP2R5D	INPP5E	DPF2	CLN5	SSR4	CBY1	CPT2	ISG15	ZBTB20	SLC25A10	ATP6AP2	GRIN2B	LIPT1	TRAK1	RAB23	ADAR	EFNB1	MTFMT	ACADS	MTHFR	SLC9A6	DHCR24	ZFR	PIEZO2	MINPP1	UFC1	PLPBP	DARS1	PIGH	ADH1C	MT-ND2	KIF1C	FGF12	LUZP1	VCP	MRPS16	TRMT10A	NAA10	MID1	AP2M1	LMNB1	PIGA	SHMT2	NDUFS2	TREX1	CARS1	GABRD	SKI	CDK5RAP2	IFT80	PPP1R21	GJB1	WDR4	SLC25A22	NEMF	ALG2	MT-TQ	AP1G1	JARID2	KCNQ2	ACY1	NTNG2	UNC80	DCPS	B3GALNT2	BRAT1	STUB1	MACF1	SMG8	DOCK7	NT5C2	SUMF1	L2HGDH	DNAL4	FH	POLR3A	ERBB4	RSPRY1	GNA11	MT-CO1	BICD2	MT-ND1	STRADA	TRAPPC14	PCLO	CILK1	SLC6A9	CNTNAP2	IFIH1	DDX59	RNU7-1	PTPN23	DPYS	FMN2	SLC46A1	DNMT1	POU3F3	ALG3	MT-TF	FANCB	WDFY3	SLC25A19	MMACHC	DYNC2I1	D2HGDH	SPG21	KCNA1	NAXD	WDR62	MRPL12	TUSC3	BCORL1	MT-TL1	ALDH18A1	DHCR7	GABRB2	PPP1R12A	CEP57	TMCO1	FASTKD2	NDUFV2	PIK3R2	TMX2	NDUFA4	VPS4A	C2CD3	SAMD9L	SLC1A2	LIPT2	MAN2B1	AARS1	SYT1	KMT2E	UBE3B	PPP3CA	NDUFAF2	PIGB	SYNJ1	NSD1	DOCK6	MT-TK	OTUD5	SNIP1	ZFYVE26	GOT2	LMBR1	BCOR	NDUFA12	TCF7L2	GFM1	IGBP1	SATB2	RARS1	FDFT1	IGF1R	PTDSS1	ST3GAL3	TCF4	B4GALNT1	TNR	SALL1	GON7	PIGU	DLL4	LRRC32	MED23	PAX6	PARS2	NFIA	TMEM138	PSAT1	TUBB3	YWHAE	ECHS1	ATL1	CLCN4	THOC6	COG4	SETD1A	ACTB	RNASEH2A	RPS6KA3	COX15	ACP5	SVBP	PRF1	OCRL	NOVA2	KCNT2	CNTNAP1	HSPA9	NUP188	GM2A	GCH1	TRMT1	PRKCZ	VPS51	DCHS1	POLR1C	UGP2	KNL1	PPP2R1A	CUL4B	EDEM3	EXOC7	EML1	AP5Z1	METTL5	DPM3	PIGQ	FRRS1L	TSEN15	NBEA	FDXR	HEPACAM	PITX1	NF1	MT-CO3	TK2	HERC1	PDPN	NOTCH1	NDUFB8	COQ2	LINS1	SQSTM1	ERCC4	ERCC2	ALDH7A1	SUZ12	UBE4A	EZR	TMEM231	ANKRD17	RFWD3	B9D2	APC2	EXOSC1	GAD1	SYNGAP1	GSX2	SATB1	AHSG	RSPO2	KIAA0586	CELF2	ZNF423	USP7	KCNT1	NMNAT1	KMT2A	VRK1	MORC2	CLN8	RPL10	WDR45B	GABRG2	EPRS1	HTRA2	MFSD2A	SNX14	SLC45A1	PCGF2	CEP152	KCNQ5	GBA	HACE1	MT-ND4	ALKBH8	SLC35A2	WASF1	RORA	FGF13	RELN	MMUT	ALG11	GPSM2	SON	BRSK2	EPG5	GRIA3	DHDDS	TAOK1	MOCS1	CYB5A	EXTL3	NCAPD3	SH3PXD2B	ARSI	LRRK2	NDUFA2	TSC1	WDR81	NDUFA13	DNM1L	EMX2	CP	DOCK3	SCN3A	TBP	KDM1A	TUBB2A	NELFA	AMER1	AHI1	CEP63	MLC1	CACNG2	GTF2E2	EIF2S3	ATG7	DPYSL5	YWHAG	C12orf4	NADK2	NEDD4L	AKT3	RHOBTB2	EIF2AK2	OSTM1	DARS2	SMG9	TBCE	TRPM3	KCNB1	AP4S1	MDH2	WAC	POMGNT2	EBP	TOPORS	SOX11	GPKOW	GFER	AP4E1	SMARCE1	LMAN2L	IFT52	DIS3L2	BRF1	GRIN2D	CDK13	MAP1B	PIGP	GCSH	FBXO7	TP73	CLIP1	PRICKLE2	PTEN	CENPJ	WASHC4	CAMK2A	NDUFA9	UBR7	IDS	CARS2	GCDH	SLC30A10	CDC40	TARS2	MAG	NAA20	TECR	FBXO31	EXOSC8	LRPPRC	TCTN1	ADARB1	DMXL2	SLC2A3	CYFIP2	FLII	CASK	ATRX	METTL23	PEX1	COG5	BUB1	RNF2	NDUFS7	SDHB	EDC3	NTNG1	PPIL1	COQ8A	ACVR1	CACNA1E	C2orf69	KAT5	EOGT	MRM2	DONSON	HSD17B10	ABAT	PIGC	PSMD12	MED13	CTSK	TM4SF20	KARS1	KCNK4	RXYLT1	HSD17B4	PIBF1	TTI2	SIX6	JPH3	LMX1B	LAMA1	CDK6	SNCAIP	PEX10	NDUFV1	CDK19	FAR1	DPAGT1	DDB1	CNOT1	ZNF699	CTNNB1	ERCC1	IQSEC1	GAA	MCOLN1	GDF1	LHX3	NACC1	SETD2	MADD	PALS1	NANS	TET3	VANGL2	KIF15	ATAD3A	TMEM165	CACNA1B	TTC5	EPB41L1	GNB2	BSCL2	PORCN	BUB3	WNT3	CTNS	ASNS	EXOC2	QARS1	ADSL	ATXN8OS	ACO2	MTRR	TSC2	THOC2	OPHN1	NDUFS3	PPP2CA	RANBP2	SDHA	DYNC2I2	STAT2	UFSP2	NDST1	AHCY	NRROS	RNF113A	CLP1	CASZ1	AARS2	SYNE1	LMBRD2	HIC1	TAF13	ZNHIT3	ARMC9	WARS2	DPH1	BCAP31	GFM2	CYB5R3	SLC6A8	PPP2R3C	GBE1	DOCK8	AGTPBP1	PHC1	AP1S2	UBA1	LEMD2	GLRX5	COG7	RBPJ	NDUFC2	TRAPPC4	SUGCT	DNAJC19	NARS2	DHX16
HP_ABNORMAL_CORPUS_STRIATUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CORPUS_STRIATUM_MORPHOLOGY	NDE1	SLC2A3	VPS13A	GCDH	RNASEH2B	NDUFS2	PDE10A	NDUFB8	HTT	JPH3	PDE8B	BSCL2	ATXN3	ADAR	OPHN1	MT-ATP6	COASY	NDUFAF5	TUBB2B	PNPT1	AIFM1	ATP13A2	CP	DCX	SCO2	TIMM8A	RANBP2	TYROBP	SURF1	RNASEH2A	NDUFAF3	FTL	FOXP2	TREX1	RNASEH2C	IFIH1	TREM2	SAMHD1	POLR3A	NUP62
HP_ABNORMAL_CIRCULATING_DICARBOXYLIC_ACID_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_DICARBOXYLIC_ACID_CONCENTRATION	AKR1D1	TNPO3	UGT1A1	PKLR	SLCO1B3	LBR	SLC25A13	POMC	VPS33B	TMEM67	ABCD4	ABCC2	EPB42	ETFDH	ABCB4	SLC4A1	PRKCSH	TSHB	RHAG	CYP7B1	PFKM	HCFC1	G6PD	MCEE	NR1H4	LMBRD1	L2HGDH	FBP1	KCNN4	LIPT1	CPOX	FARSB	OSTM1	MMADHC	KIF23	SUCLG1	MMACHC	PEX19	GYPC	MED12	MMEL1	SPTB	PIEZO1	SLC51A	SLCO1B1	SUCLA2	TTC26	CPT2	PRDX1	GLRX5	FH	TSHR	PAFAH1B1	ALDOB	DGUOK	IRF5	SPIB	ABCB11	SPTA1	EIF2AK3	IL12A	ETFB	ATP8B1	ACSF3	SEC63	ANK1	BAAT	PRF1	UBE2A	ADK	TG	ZNF699	RFX6	SLC35A2	PAX8	HSD3B7	SC5D	GPX1	IL12RB1	ABCD3	SLC19A1	PGK1	DUOX2	SLC10A1	WDR35	RHD	MMAA	RHCE	VIPAS39	FDFT1	GCDH	IDH2	TPO	SPTBN1	MMAB	IYD	TNFSF15	MMUT	LRP5	SLC17A5	MTTP	UROS	KLF1	GATA1	HBB	PKHD1	DUOXA2	AMACR	TRMU	SLC5A5	HK1	SLC2A1	SLC30A10	ODC1	ETFA	UQCRC2	POLG2	GSR	SUGCT	KIF12	IGF1	DNAJC19	PIGA	POU2AF1	DCDC2	EPB41	CASK
HP_ABNORMAL_CIRCULATING_MONOCARBOXYLIC_ACID_COCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_MONOCARBOXYLIC_ACID_COCENTRATION	AKR1D1	DNAJC21	NR1H4	ATP8B1	EFL1	ABCD3	SLC51B	ABCB11	TJP2	SRP54	SLC10A1	KIF12	ABCB4	UNC45A	DZIP1L	SBDS	TALDO1	PKHD1
HP_CHROMOSOMAL_BREAKAGE_INDUCED_BY_IONIZING_RADIATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHROMOSOMAL_BREAKAGE_INDUCED_BY_IONIZING_RADIATION	TRAF7	TERT	SUFU	PDGFB	SMO	RNF168	SMARCE1	SMARCB1	NF2	AKT1	RAD50	BAP1	PIK3CA
HP_INCREASED_BONE_MINERAL_DENSITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_BONE_MINERAL_DENSITY	RTL1	SCARB2	FAM111A	AGXT	MLXIPL	RUNX2	PLEKHM1	LRRK1	DMP1	TBCE	SNX10	ENPP1	LRP4	LPIN2	LEMD3	ELN	TCIRG1	TMEM270	GTF2I	GBA	NCF1	HSPG2	RFC2	CTSK	ACP5	NGLY1	ANKH	SQSTM1	LIMK1	OSTM1	TGFB1	EIF4H	CLCN7	MC4R	ERCC3	AMER1	HMGA2	BMP1	SIK3	MPLKIP	FERMT3	FKBP6	FLNA	STX1A	SOST	KL	BAZ1B	MEG3	LRP5	CSF1R	PTH1R	RNF113A	WRN	ERCC6	GTF2E2	PHEX	EBP	MIR140	BUD23	SLC29A3	LBR	VCP	MITF	DNAJC30	DHCR24	DLX3	TNFRSF11A	GTF2IRD2	CA2	TRAPPC2	NOTCH3	NAGLU	GJA1	GNAS	ERCC8	VPS37D	BCL7B	TRPS1	SLC39A14	PTDSS1	LMNA	HHAT	SGSH	SLC26A2	FAM20C	EIF2AK3	SETBP1	TNFSF11	GTF2H5	SLC34A2	MAP3K7	HGSNAT	TARS1	TONSL	DLK1	TNFRSF11B	TBXAS1	MAP2K1	METTL27	STX16	TBL2	CLIP2	ERCC2	ANO5	GTF2IRD1	MTAP
HP_OSTEOPETROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOPETROSIS	FERMT3	ANKH	CLCN7	TNFSF11	SNX10	CA2	PLEKHM1	PTDSS1	AMER1	GJA1	DHCR24	OSTM1	LRP5	MITF	TCIRG1	CSF1R	TNFRSF11A
HP_HIGH_MYOPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_MYOPIA	CNGB3	KAT5	LRPAP1	ASXL1	NYX	CRIPT	ERBB3	ADAMTSL4	ADAMTS10	ATP6V1A	RAB28	CPSF1	ATP6V1E1	P4HA2	TGFBI	FBN1	P3H2	SMS	MYOC	FGFR3	NMNAT1	COL18A1	ATP6V0A2	COL9A2	CYP1B1	ARR3	IPO8	TTC8	HERC1	COL2A1	TBC1D24	RPL10	DAG1	IRX5	CYP4V2	HS6ST2	GZF1	COL11A1	PRDM5	ELOVL4	B4GALT1	RIN2	LTBP2	ZNF644	EFL1	LRP2	SLITRK6	ZNF469	COL9A1
HP_ABNORMAL_SYSTEMIC_ARTERIAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SYSTEMIC_ARTERIAL_MORPHOLOGY	NDE1	ELN	SMAD4	TGFB3	TGFBR1	NTNG2	COMT	SELENOI	ZMIZ1	CTSA	COL4A1	FGFR1	PLXND1	TRMT1	GATA1	SRCAP	RAD51	APP	GATA6	MAT2A	GBA	KANSL1	COX7B	MT-ND1	HRAS	ERCC3	GTF2I	FANCC	NCF1	ROR2	NT5E	DOCK3	MYH11	GDF1	NR2F2	FBN2	SUCLG1	CDH2	MED27	EIF4H	HDAC4	MED12	ABCA1	APOB	RPL18	FANCF	SIX3	YY1AP1	ERCC4	TTC26	LDLRAP1	FANCD2	PAH	FBLN5	PTCH1	KRAS	TUBG1	LOX	ZMPSTE24	FOXE3	SLC2A10	LMNA	ALG9	MYCN	ERCC5	BRCC3	PTEN	ACTL6B	CHD7	ADA2	NEU1	COL1A2	NADSYN1	TGFBR2	NOTCH1	EMC10	CRKL	FANCL	ADK	MLX	LTBP1	COL5A2	RNASEH2C	DPYSL5	SMAD3	NEK1	ATP7A	IFIH1	SEMA3E	CHST3	MID1	CHD4	SLC25A24	PTPN23	LRP5	TRIP12	TPM3	VHL	TSC1	ABCC6	SMARCAL1	MAPK8IP3	LDLR	EFEMP2	BUB1B	KCNMA1	CYP7A1	MAD2L2	ZEB2	FANCA	ALG3	PPP2R1A	BCL7B	PDGFB	SMG9	SKI	GALC	MYH3	COL5A1	RPL27	FANCB	NODAL	SPTBN1	KNSTRN	STIL	NOTCH3	PKD1	KDM6A	FBXW11	WDFY3	DDX6	TGFB2	WAC	RPL35A	ABL1	CYP1B1	BPTF	RPS10	WDR26	TCF20	RPS26	PRPF3	TBX1	NKX2-5	COL3A1	STAT1	TONSL	PRDM16	PCSK9	ZIC2	RPS15A	JAG1	PRKAR1A	HYOU1	MFAP5	APOA5	MEIS2	TMEM127	PIGN	BCORL1	NXN	RLIM	ESR1	THSD1	POU3F4	METTL27	RNU4ATAC	MT-CO3	DHCR7	DIS3L2	NPC2	CREBBP	BRF1	TGIF1	ABCG8	CEP57	UBA1	CCDC32	FKBP14	ARL6IP6	FANCI	MYT1L	APOE	ESS2	FIG4	DCDC2	TPM2	PTPN22	ALMS1	GANAB	PLOD1	ENG	AGXT	IDS	HEXB	MPL	RPL15	NEDD4L	RERE	RNF213	PIK3R2	HCCS	PPARG	GLI3	ADAR	EHMT1	LIPA	TRRAP	GGCX	ENPP1	SLC12A2	KCNH1	RFC2	MYOC	HLA-DRB1	FARSB	RET	TDGF1	UBR7	KMT2E	PRKG1	UBE3B	PKD2	COL1A1	FKBP6	GRIA4	HPDL	MT-ATP6	RPS19	TSC2	ACTA2	DGCR2	SON	CAT	TGDS	BUD23	FGFR2	RAD51C	IL12B	FANCE	DNAJC30	DNAH1	TCF7L2	PCNT	PUS7	BICC1	FLI1	DNMT3A	DISP1	RPS24	SYNCRIP	PLOD3	VPS37D	PPP1CB	EP300	AGO2	SMAD2	PIK3CD	MYLK	BUB1	TMTC3	RNF2	HEXA	DNAJB11	ANGPTL6	APOA2	NTNG1	MMP21	CHRNG	SHH	NSMCE2	TMEM260	TRIP13	GJA5	TBX20	LMX1B	EPHX2	KIF1B	CNOT3	DLK1	FLT4	CSF2RB	GUCY1A1	NF1	LCAT	DYRK1B	SMPD1	HEY2	BRCA2	XRCC2	HNRNPK	KAT8	SETD1A	GP1BB	RNASEH2A	AFF4	CDK8	CELA2A	BRCA1	AEBP1	BCOR	CRELD1	FBN1	MLXIPL	SUPT16H	SRY	RAI1	ALDH18A1	TMEM67	FLNB	ABCD4	HLA-B	BRAF	HTRA1	KDM4B	TKT	MCTP2	ASAH1	CDON	CTCF	PSMD12	MED13	MAX	C12orf57	DGCR6	LIMK1	PSAP	XYLT1	HGD	GLB1	CLCN3	PPP1R17	NKX2-6	RPS17	RPS7	TMEM231	ANTXR1	TALDO1	NIPA1	VAC14	MYPN	PUF60	GM2A	GAS1	KMT2D	RPS28	PRKCZ	AMER1	NRAS	ZNF148	RPL35	UBE4B	HES7	CYP27A1	LZTR1	WRN	SLC20A2	ARVCF	RIN2	RPL5	TNRC6B	TNXB	TULP1	UFD1	PGM3	RPS27	NSD1	ADAMTSL1	ABCG5	TANC2	FZD4	RNASEH2B	SC5D	HIRA	BMPR2	BCAS3	PALB2	KCNAB2	MT-ND6	SETD2	APOA1	MADD	RPS20	MT-ND5	PGM1	PALS1	SDHB	ARFGEF2	FANCG	SMAD6	F12	ACTL6A	NPR3	MMP23B	PTH1R	P4HA2	PDPN	XYLT2	SLC34A2	TAB2	GNB2	MAPK1	STAG2	MKS1	SEC24C	BUB3	TBL2	FGF8	ARF1	ZNF687	WT1	HS2ST1	TRAF7	ANKRD17	SAMHD1	GJA8	MT-CYB	RTL1	FANCM	APC2	GJA1	HSPG2	HOXA1	B3GALT6	SDHD	SPEN	ROBO4	ACVR2B	SPECC1L	SATB1	TGFBR3	TMEM270	BRIP1	DYNC2LI1	FOXF1	FMR1	NEK9	GATA5	HTT	GHR	B3GAT3	SLX4	STX1A	NIPA2	PNPLA2	ERMARD	THPO	BAZ1B	NDUFB11	MEG3	MYH7	RPL11	SERPIND1	CASZ1	KCNJ5	LMBRD2	RPL26	ERCC8	GATA4	JAK2	JMJD1C	PLD1	MT-ND4L	BCR	GTF2IRD2	GLI2	DARS1	SVBP	WDPCP	DLL1	UBE2T	NOD2	PTPN11	STRA6	MAP2K1	NKAP	NPC1	LUZP1	FLNA	ERCC2	WASF1	MMP2	GAA	IPO8	MT-ND4	RPL31	CSF2RA	FOXH1	LEMD3	CARS1	RFWD3	PDGFRB	ERCC6	GABRD	TBX5	IGFBP7	RPS29	MMP14	HUWE1	LIPC	SOS2	MAP1B	DGCR8	TSR2	CEP19	RREB1	CLIP2	BEST1	TRAPPC4	GTF2IRD1	UNC45B	TREX1	RBM8A	BGN	MT-ND2	JARID2	NDP
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	KCTD17	VPS11	SUPT16H	DRD2	SPG11	ALS2	CNP	B3GALT6	SPTLC1	PCGF2	PRRT2	SIGMAR1	NAA10	GCH1	CACNA1A	CEP85L	MEOX1	HK1	KIF1C	COL6A1	SYNGAP1	TGM6	CP	COL6A3	COL6A2	MYF5	TOR1A	SCP2	VPS16	ATP1A3	GDAP2	NEK9	COX20	SPTBN1	PPP2R5D	ACTA1	TUBB3	DDC	PRKRA	FUS	TGFB2	GNAL	TRPV4	SGCE	HPCA	PNKD	KMT2B	COL12A1	MAPT	GDF6	ANO3	FLI1	GDF3	TUBB4A	ATP13A2	ALG9	KCNC3	THAP1	ZNF142	COLEC11	CDK10	CIZ1	TBP
HP_TEMPORAL_PATTERN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TEMPORAL_PATTERN	MPZ	ATXN8OS	GLUD2	PMP22	SMC1A	NR4A2	MAPT	SNCAIP	ATXN2	EIF4G1	DBT	BCKDHA	NIPA1	ADH1C	TBP	BCKDHB	OPA1	SPAST	SNCA	MT-TT	ATL1	ADORA2A	WASHC5	GBA
HP_ABNORMAL_CIRCULATING_CARBOHYDRATE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_CARBOHYDRATE_CONCENTRATION	MT-TF	NDUFB3	NDUFA1	PDHX	SLC25A13	NDUFB9	SLC25A26	NDUFAF5	PNPLA8	GALT	SORD	COX6A2	NDUFS8	NDUFS3	LDHA	PTPN22	PITRM1	NDUFAF4	TKT	NDUFB11	NDUFV1	AIFM1	RPIA	LIPT2	FOXRED1	POLG	ACAT2	NDUFA11	MT-ND3	GALE	KARS1	NDUFS2	PC	PDHA1	SDHB	NDUFS4	GALM	NDUFB10	MECP2	ITPR3	NDUFS7	NDUFV2	NDUFA6	DCXR	GALK1	MT-TK	TMEM126B	COX16	NDUFS6	MT-ND1	MPC1	IL6	COX10	NDUFAF1	TIMMDC1	LONP1	MT-TP	MT-TI	MT-TL1	NDUFAF2	UQCRC2	NDUFAF8	BCS1L	HNF1A	NDUFAF3	NDUFS1	NUBPL	MT-ND2	TWNK
HP_ABNORMAL_GLUCOSE_HOMEOSTASIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GLUCOSE_HOMEOSTASIS	TP53	PROM1	AR	LHX4	PAX4	MT-TE	CCDC28B	DLK1	NDN	STUB1	PDX1	GATA6	TXNRD2	CDKN1C	FAH	GATA3	MT-ND5	SNRPN	PDE8B	DCAF17	NEUROD1	IGFALS	CYP21A2	EIF4H	PAK1	GREB1L	SLC2A2	ZMPSTE24	AIP	GCK	TWNK	NODAL	HSD3B2	XRCC4	PYGL	CTC1	PHKB	DLD	PTEN	MT-CO1	LRP6	MT-ND1	LRAT	PCCB	POLG	HESX1	ACADVL	SHPK	LMNA	SLC7A14	NDUFAF3	PCARE	RIMS2	KDSR	SERAC1	ATP7A	ACADS	PLAGL1	IFIH1	PNPLA6	HYMAI	SLC5A1	HGSNAT	CAV1	DBT	MEG3	GLI3	CDH23	NDUFS8	CTNNB1	EHHADH	MT-TF	PTCH1	IL2RA	HRAS	CDON	NOTCH3	ALMS1	PHKA2	MMACHC	RTEL1	NDUFB10	PRKACA	ITPR3	MAGEL2	KCNJ11	ARMC5	RTL1	POLG2	SLC19A2	BLK	IGF2	CRX	HYOU1	APOA5	AKT2	WT1	ESR1	MT-TL1	TIMMDC1	TCF7L2	METTL27	NPAP1	INS	ARL6	PTRH2	DISP1	HBB	APOE	OCA2	GUCA1B	GATM	AIRE	ARNT2	CERKL	RP1L1	DBH	INSR	ADAR	LEMD3	COL2A1	NDUFAF4	ELN	NR1H4	MT-TC	RABL3	APPL1	LIG4	FARSB	FGF20	MC4R	CORIN	FBN1	NDUFS7	FKBP6	CLPB	NSD1	CACNA1S	FLT1	AGBL5	SRP54	EDA	GLIS3	PDE4D	CAT	POLA1	HADH	ITCH	BUD23	TERC	PEX10	SPINK1	WFS1	NFS1	PMM2	PRCD	DNAJC30	MT-CYB	CYP11A1	TTC7A	VPS37D	POC1A	FOXRED1	DHDDS	ARL2BP	BRCA2	IGF1R	PPARG	PIK3R1	NNT	CPT2	TFE3	EIF2AK3	SNORD115-1	SLC29A3	PAX6	IARS1	GLUD1	COG8	HNF1A	SHH	MTNR1B	YARS1	MT-TK	HNF4A	MT-ATP6	IFT172	SEMA4A	CDKN1B	ETFA	RNASEH2A	ADA2	AFF4	CELA2A	MKKS	PRPF31	CEL	IL18BP	MT-TW	GABRA3	EFL1	NDUFB3	GAS1	HLA-DRB1	MT-ND6	PRPF3	MTOR	ABCC8	ETFDH	CPE	G6PC1	IFT140	SLC40A1	RP1	NSMCE2	UBR1	QRSL1	PNPO	PSTPIP1	ACAD8	ALG12	UCP2	SUCLG1	WARS2	CTDP1	ALDOB	PCK1	COX16	SLC25A20	BRCA1	PPP2R5D	NDUFAF2	MCCC2	HMGCL	GHR	PALB2	IFT88	FAM161A	VANGL1	HLA-DQA1	SLC12A3	DIS3L2	SLC37A4	PDE6A	PPP1R15B	NPM1	SMAD4	AGPAT2	KLHL7	CP	DHX38	GJB3	STAT3	TBX19	PPP1R3A	STOX1	PCSK1	LMNB2	ROM1	MC2R	ITGA8	MT-CO3	HADHA	RDH12	HERC1	SLC1A1	PRPF6	TMEM126B	LEPR	BCKDHB	GNAS	NDUFA6	NAB2	ZFP57	CTRC	GPD2	ALDH7A1	NHP2	SNRNP200	APC2	POGZ	PCCA	SOX2	PROP1	GATB	NDUFS3	ACAD9	KDM6A	PCBD1	NDUFB11	MPI	FOXC2	CFTR	HSD17B10	PC	MT-TS2	TDGF1	NDUFS4	RBP3	MAFA	PRPH2	SAG	GATC	DGUOK	PRKAG2	ASXL2	CISD2	POU1F1	MPC1	BAZ1B	ATM	RHO	FMR1	ACSF3	LHX1	BEST1	EIF2S3	MERTK	MRAP	ELMO2	GPR101	MEN1	PDE11A	FOS	TFG	SLC13A5	ZNF513	NOP10	HERC2	RP9	GPR35	BRAF	GJA1	FSCN2	TTC8	NDUFA11	TANGO2	KCNQ1	CLRN1	GPC4	HLA-DQB1	OTX2	NDUFV2	TULP1	ENPP1	TINF2	PEX1	CRB1	MOG	KRAS	ODC1	CLIP2	GTF2IRD1	IGF1	NUBPL	GYS2	YIPF5	DKC1	ACADSB	KLF11	MPV17	YY1	OPA1	HMGA1	DNM1L	KIZ	PREPL	NDUFV1	FXN	GTF2I	NEK2	NCF1	EBP	KCNQ1OT1	MT-ND3	BCKDHA	TCF4	ACAT1	HNF1B	IGKC	IMPG1	GALK1	MT-TH	MCCC1	NDUFS6	NFKB2	POMC	USP8	MTHFR	NDUFAF1	POMGNT1	STAT1	PROK2	GALT	CLCNKB	PCK2	RNASEH2C	NDUFS1	PHKG2	REEP6	PLAG1	CAVIN1	LRPPRC	FUT8	SGPL1	LEP	MTX2	ABCA4	BCL7B	GCDH	PTF1A	FGFR1	SLC3A1	NDP	KCNJ18	PRSS1	CA5A	NDUFS2	AMACR	MKRN3	SIX3	SPATA7	SLC25A4	POLD1	PPM1B	MT-CO2	AGL	SBDS	KCTD1	PROKR2	DNAJC21	LIPC	BBS2	HSD11B1	ZFYVE26	CPA1	LRBA	UQCC3	GPC3	CNGB1	AUH	SLC22A5	IRS2	ACADM	HADHB	LIPE	LMF1	RETN	ZNF408	CA4	SLC34A1	USB1	DOLK	FBP1	RFC2	PDE6G	IARS2	MICOS13	MAPK8IP1	PNPLA2	PLIN1	ZIC2	GLRX5	SMPD4	HMGA2	IMPG2	RGR	CDHR1	TGIF1	HFE	MFN2	CPT1A	FOXP1	NR3C1	ETFB	PLCD1	SCAPER	IGHG2	BLM	DMXL2	FOXH1	OFD1	EYS	FOXP3	NKX2-5	PRPF8	ABCB4	MRPS28	STAT6	PRKAR1A	CNBP	BMP2	MADD	PAPPA2	ARHGEF18	TFAM	IGF2BP2	TUB	WNT9B	HAMP	PDE6B	SECISBP2	FUZ	ADCY3	GLI2	BSCL2	DNAJC3	GHSR	NBAS	TERT	H19	IRS1	CFAP418	SH2B1	WDR11	UQCRC2	MT-ND4	BCS1L	SNORD116-1	OTC	AEBP1	SLC16A1	CIDEC	TTPA	MLXIPL	NDUFA1	NDUFB9	GH1	USH2A	NDUFAF5	IRF4	RRM2B	GCGR	TKT	CNOT1	MT-TV	NR2E3	RP2	LIMK1	CAMKMT	STAR	PSMB8	IMPDH1	IER3IP1	SCN4A	HJV	WRN	AHR	FOXA2	NDUFAF8	RNF125	BBS1	RET	MT-ND2	MRPS2	RFX6	IDH3B	SARS2	NEUROG3	RNASEH2B	VANGL2	LHX3	SETD2	CACNA1C	SAMD9	PGM1	FCGR3B	IL6	RAC1	PRSS2	GPR161	SOX3	MIA3	RPE65	PALLD	SUFU	BBS9	NRL	PTPN1	IDH3A	CASR	TBL2	PWAR1	PARN	CYB561	TOPORS	ROBO1	ALAS2	SAMHD1	FGF8	GK	PTPN22	TMEM270	SIM1	SEMA4D	PET100	SCO1	ZBTB20	STX1A	MAK	CDKN2A	KIAA1549	SLC52A1	RPGR	ARL3	CNGA1	UQCRB	GTF2IRD2	PLPBP	SLC30A8	GFM2	TRMT10A	GJB4	MST1	PWRN1	MMP2	HMGCS2	CTNS	POLR3A	PEX6	CARS1	WRAP53	PRPF4	MMP14	DLL1	MT-TQ	CYP19A1	LEMD2	KCNE3	NDUFAF6	COG7	COX10	CEP19	RLBP1	ATP5F1D	PCNT	MTO1	TREX1	EDA2R	MRPS7	DNAJC19	MLYCD	AHI1
HP_ABNORMAL_BLOOD_GLUCOSE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_GLUCOSE_CONCENTRATION	PNPO	GABRA3	NDUFB3	NDUFA1	ACADSB	KLF11	MPV17	LHX4	HSD17B10	POMC	YY1	NDUFB9	GH1	HADH	NDUFAF5	KCNJ11	PDX1	GATA6	MTOR	STAT3	ABCC8	TXNRD2	ETFDH	CDKN1C	FAH	G6PC1	PREPL	INS	NDUFV1	MT-CYB	EBP	KCNQ1OT1	FOXRED1	PROP1	MT-ND3	IGF2	BCKDHA	HADHA	HNF4A	PAX4	CYP21A2	CAMKMT	SUCLG1	STAR	PAK1	GREB1L	CACNA1S	ACAT1	ZMPSTE24	QRSL1	MCCC2	ACAD8	INSR	ALG12	GCK	HADHB	UCP2	GALK1	FBP1	WARS2	CTDP1	ALDOB	PCK1	MCCC1	HSD3B2	SCN4A	COX16	NDUFS6	SLC25A20	NFKB2	MEN1	PYGL	PHKB	DLD	PTEN	NDUFAF1	FOXA2	PPP2R5D	NDUFAF2	EIF2S3	NDUFAF8	PCCB	GALT	ACADVL	MRAP	SHPK	CPT2	PCK2	RNF125	NDUFAF3	RIMS2	HMGCL	NDUFS1	GHR	SERAC1	NSD1	ATP7A	HESX1	ACADS	PLAGL1	PHKG2	RET	MT-ND2	PLAG1	MRPS2	LRPPRC	RFX6	HYMAI	GLUD1	SLC37A4	DBT	FUT8	LHX3	GLI3	NEUROD1	NDUFS8	SETD2	PPP1R15B	SGPL1	CPT1A	CACNA1C	SAMD9	PGM1	EHHADH	NNT	HNF1A	PPARG	GCDH	SLC3A1	KCNJ18	TBX19	CA5A	ARMC5	HRAS	CDON	NDUFS2	PCSK1	PHKA2	MMACHC	GPR161	MC2R	ITGA8	OTX2	NDUFB10	PROKR2	ACADM	DMXL2	ITPR3	HERC1	SLC1A1	PPM1B	AGL	TMEM126B	BLK	BCKDHB	AKT2	APPL1	BBS9	LMNA	HYOU1	POU1F1	NDUFA6	TIMMDC1	NAB2	ZFP57	ACAD9	TANGO2	ALDH7A1	CYB561	SLC16A1	ROBO1	UQCC3	GATM	GPC3	AUH	APC2	SLC22A5	POGZ	DBH	PCCA	GATB	NDUFS3	GK	KDM6A	PTPN22	NDUFAF4	NDUFB11	SLC34A1	NR1H4	DOLK	IARS2	MICOS13	FARSB	FGF20	PC	PET100	NDUFS4	SCO1	NDUFS7	CLPB	GYS2	HMGA2	GATC	DGUOK	PRKAG2	ASXL2	SLC52A1	PIK3R1	MPC1	NR3C1	ETFB	ACSF3	NFS1	CYP11A1	UQCRB	MRPS28	STAT6	MADD	GLI2	PLPBP	SLC13A5	TFAM	GFM2	SOX3	WNT9B	SLC2A2	TRMT10A	GJA1	NDUFA11	TFE3	KCNQ1	SECISBP2	PTF1A	HMGCS2	GPC4	HFE	NDUFV2	COG8	GHSR	NBAS	YARS1	MT-ND1	KCNE3	IL6	H19	NDUFAF6	COG7	COX10	ATP5F1D	WDR11	ODC1	ETFA	UQCRC2	BCS1L	AFF4	MTO1	OTC	IGF1	MRPS7	DNAJC19	NUBPL	CEL	MLYCD
HP_ABNORMALITY_OF_CIRCULATING_ENZYME_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CIRCULATING_ENZYME_LEVEL	COA7	FKTN	TRAPPC11	SLC25A4	BIN1	PYROXD1	TNNC1	B3GALNT2	DAG1	UQCRFS1	CHCHD10	AIFM1	DPM1	DPM2	BAG3	COL6A1	POMT2	PLEC	NEXN	LAMP2	DYSF	GTF2I	KLHL41	TBCD	NCF1	HSPG2	COL6A2	ALG2	SQOR	ADSS1	HINT1	RYR1	TMPO	EIF4H	PGAM2	SUCLA2	C1QBP	EMD	MSTO1	DCXR	USB1	MT-TL2	MT-TN	MYH7	TWNK	CAV3	MYF6	PRDM16	GMPPB	LAMA2	PHKB	C19orf12	SYNE2	LMNA	POLG	ACADVL	MYH14	AP5Z1	LARGE1	COL6A3	PHKG2	CASQ1	COL9A3	FDX2	TSFM	PYGM	GOSR2	CA2	TIA1	TTN	LMOD3	CRPPA	GFPT1	SGCG	POMK	BCL7B	TRAPPC2L	STIM1	KY	KCNJ18	FKRP	CRYAB	COL4A1	AMACR	PLA2G6	ITGB4	POMGNT2	POLG2	AGL	MYOT	FRG1	DOK7	XK	GNE	POMT1	METTL27	SMCHD1	TANGO2	CPT2	MT-TL1	TRIP4	FHL1	SVIL	HADH	ACTA1	ALG14	KCNA1	ERGIC1	VCP	DMD	COL12A1	CHKB	SLC16A1	ACADM	HADHB	LIPE	DNM2	PABPN1	POMGNT1	NSUN2	ELN	SIL1	DES	RFC2	TMTC3	MYPN	QRICH1	COG8	PNPLA2	MYBPC3	SGCA	FKBP6	SYNJ1	ISCA1	CACNA1S	LDB3	DGUOK	RAF1	TNNT2	OTUD5	CPT1A	TCAP	B4GALT1	MICU1	ABHD5	DNAJB6	BUD23	PDK3	TK2	NFS1	DPAGT1	DNAJC30	CSRP3	DPM3	AASS	CNBP	VPS13A	SLC25A42	VPS37D	FLAD1	RNASEH1	CFL2	DNA2	SGCD	COG6	NEFL	ANO5	LDHA	PHKA1	SYNE1	B4GAT1	ITGA7	SETX	DSP	MATR3	TAF1A	PLN	LAMA1	GABRA3	MLXIPL	ACTN2	MYL2	CAPN3	PIEZO2	RRM2B	MGME1	SQSTM1	SGCB	TRIM32	ORAI1	DMGDH	TFG	LIMS2	LIMK1	LRP12	HADHA	MPZ	KBTBD13	DSG2	QRSL1	RXYLT1	KLHL9	HNRNPA2B1	TXNRD2	TPM2	SCN4A	COX16	TNNI3	SLC25A20	POPDC3	OCRL	FHL2	FKBP14	MTMR14	AR	MT-CO3	PPCS	TPM1	GAA	INPP5K	TAFAZZIN	VMA21	PITRM1	PGM1	GIPC1	HNRNPA1	ACTC1	MYMK	TOR1AIP1	SCN5A	PHKA2	GGPS1	TMEM165	FLNC	DNMT3B	BVES	ACAD9	TBL2	MT-TE	NEB	NEFH	PEX6	TPM3	ENO3	FAM111B	ANKRD1	TIMM22	MVK	TMEM43	HHAT	GATB	PIK3R5	CAP2	TMEM270	CAVIN1	PSEN2	PET100	NOTCH2NLC	RBCK1	ALDOA	DOLK	STX1A	RBM20	PIGY	GATC	AHCY	BAZ1B	PSEN1	AGXT	DUX4	COQ2	LPIN1	ABCC9	POGLUT1	TRPV4	LTBP4	MPDU1	GTF2IRD2	SDHA	PLEKHG5	VCL	HAND2	COX20	MYH6	MT-CO1	JAG2	CCDC115	UBA1	KCNE3	COG7	ATP5F1D	ISCU	CLIP2	MPV17	GTF2IRD1	GATAD1	HNRNPDL	LAMA4	SUGCT	NARS2	MIEF2	DHX16	TRMU
HP_APLASIA_HYPOPLASIA_OF_THE_VAGINA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_VAGINA	PPP2R1A	GATA4	SOX9	GATA3	WT1	WWOX	MAP3K1	CYB5A	CYP11B1	DMRT3	DHX37	PAX3	VAMP7	SRY	ZFPM2	IRF6	NR0B1	NR5A1	CYP17A1	B3GLCT	GLI3	WNT4
HP_ABNORMAL_FALLOPIAN_TUBE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FALLOPIAN_TUBE_MORPHOLOGY	RAD51	COX7B	PLG	AR	BRCA2	RAD51C	HYLS1	RAD50	DCAF17	WT1	PTEN	BRCA1	CHEK2	NDUFB11	WNT3	FANCB	TP53	PALB2	RAD51D	NBN	KIF7	DHH	MRE11	BRIP1	HCCS	WNT4	BARD1
HP_ABNORMALITY_OF_BLOOD_CIRCULATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_BLOOD_CIRCULATION	FSHR	NDE1	IL12A-AS1	TGFBR1	COMT	IL12A	WAS	COL4A1	CFH	CDKN2B	APP	PDX1	MAT2A	KANSL1	SDHC	TBX20	PRKCSH	FAH	APOE	F2	INS	CTNS	NDP	CTLA4	TERC	SLC25A11	IFNG	SH2B3	COPA	KRIT1	MED12	LRP5	CDKN1A	DZIP1L	WFS1	NKX2-5	BAP1	TTC26	HLA-B	GCK	ERAP1	ATRX	SMARCE1	HELLPAR	ZMPSTE24	DNMT3A	DLST	BRCC3	PTEN	TRAF7	NABP1	ADA2	RASA1	MPI	TGFBR2	CYSLTR2	TREX1	LMNA	STAT4	LMAN1	ATP7A	F8	GNAQ	VHL	TSC1	MVK	ABCC6	SMAD3	ARHGAP31	FZD4	CALR	CYP11B2	RPS20	CYP11B1	SREBF1	ATP6V1A	SLC35A1	HPGD	TTC7A	HLA-DPA1	NOTCH3	AMACR	TGFB2	ACVRL1	MMACHC	TEK	MYH11	GATA4	EPCAM	COL3A1	FGG	CFHR3	KIF1B	ENG	CTNNB1	TMEM127	CD109	THSD1	TERT	GP9	SLCO2A1	FGB	PDGFB	JAK2	ZEB2	ZNF408	GATA2	GP1BA	MYD88	SP110	PIK3CA	PKHD1	GREM1	IKBKG	PROC	CST3	BCOR	MYC	CISD2	FGA	ELN	ITGA2B	MLH3	ENPP1	TBX1	TLR4	SDHAF2	SPARC	APC	F5	TET2	CFHR1	RET	SERPINE1	PRKG1	MSH2	NLRC4	CD46	PML	KRAS	CFI	GCDH	CASP10	PCCB	SERPINF2	DOCK6	TSC2	PDCD10	USP18	CYP11A1	PMM2	ACTC1	SDHB	BMPR1A	VWF	ATOH7	F10	IFNGR1	TSPAN12	SMAD4	PCCA	C4A	PRTN3	SMAD2	GGCX	FAN1	ANGPTL6	DLL4	HLA-DPB1	F13A1	SDHA	MYLK	ZNFX1	NPM1	FIP1L1	ATP6V0A2	DAXX	IL23R	HEY2	THOC6	GP1BB	GBA	AGGF1	SDHD	ASXL1	NF1	EOGT	FN1	STK11	LBR	SLC25A13	PLOD1	IRF4	STAT3	GNA11	CTCF	MAX	KIF23	XYLT1	DOCK8	GFI1B	F13B	PUF60	STAT5B	SRSF2	ALDOB	NF2	FCGR2C	STN1	MLH1	CAPN5	ARVCF	MCFD2	SEC63	MPL	DNM2	CBS	SMO	TNXB	ALPL	UFD1	F9	DPAGT1	UBAC2	AKT1	MFAP5	MEFV	HIRA	STX3	PRKAR1A	IVD	PRF1	SAMD9	HPS1	PDGFRA	ITGB3	SEMA4A	CYP26C1	SMARCB1	CTC1	IL10RA	MDH2	SLC7A7	SUFU	XYLT2	CITED2	NOTCH1	CCR1	EIF2AK4	F7	PMS2	TGFB3	RHBDF2	TLL1	SEC24C	ACAD9	RS1	ZBTB16	PTPN22	RUNX1	LOX	RB1	KCNJ5	TGFBR3	IKZF1	RARA	CCM2	RANBP2	AQP2	FOXF1	IL10	SBDS	PET100	EFEMP1	LMBRD1	STAT2	CLCN2	CPT2	PMS1	ACTA2	GDF2	AVPR2	CDKN1B	SF3B1	HMOX1	PROS1	WIPF1	COLGALT1	RNF168	FBN1	ERCC8	MYH6	JMJD1C	ABCC8	NUMA1	CBL	HSD3B7	MSH6	PLVAP	MEN1	GATA6	CACNA1D	TAOK1	ATP6V1E1	TNFRSF1A	TBL1XR1	FH	KIT	FOXE3	MMUT	IPO8	KLRC4	COL4A2	IRF2BP2	ITGA2	MYO5B	ERCC6	HMCN1	F11	RREB1	CDKN2C	EPAS1	RBPJ	KCNJ11	BEST1	FAS	PLAU
HP_ABNORMAL_BLOOD_TRANSITION_ELEMENT_CATION_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_TRANSITION_ELEMENT_CATION_CONCENTRATION	HJV	PKLR	COL7A1	TTC37	HFE	IARS1	BMP2	CARD9	ABCD3	SLC30A10	AP1B1	SKIV2L	TRNT1	SPATA5	STEAP3	HBB	MMP1	HAMP	SLC30A2	FOXP1	ATP7B	CP	SLC39A8	SCO2	SLC7A7	COG2	BCS1L	SLC40A1	KIF23	ATP6V0A2	TMPRSS6	ATP6AP1	PIGA	ALAS2	AP1S1	TFR2
HP_ABNORMALITY_OF_IRON_HOMEOSTASIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_IRON_HOMEOSTASIS	HJV	PKLR	COL7A1	TTC37	HFE	BMP2	CARD9	ABCD3	SLC30A10	SKIV2L	TRNT1	STEAP3	HBB	HAMP	FOXP1	CP	BCS1L	SLC40A1	KIF23	PIGA	ALAS2	TFR2
HP_ABNORMALITY_OF_FLUID_REGULATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FLUID_REGULATION	FSHR	NPHS1	IL12A-AS1	IL12A	CTSA	FCGR2A	PLXND1	CDKN2B	PDX1	RRAS	TBX20	CDC42	RIT1	SUMF1	SNRPN	CTNS	EIF4H	JAG1	TCF3	UNC45A	NKX2-5	TTC26	CPT2	ODC1	COL8A2	GCK	ERAP1	TWNK	MYLPF	HELLPAR	SCNN1A	PAX2	PTPRO	HSD3B2	ALOXE3	TRAF3	PTEN	LBR	DEF6	POLG	PRF1	ATP6V0A4	TREX1	SPTA1	STAT4	TG	XPNPEP2	PLAGL1	F8	RNU7-1	F12	SMC3	HYMAI	SOX18	SLC5A1	LRRC8A	DBT	TPRKB	IGHM	NLRP3	CDH23	UNC93B1	DNMT1	EHHADH	SHANK3	RYR1	NEUROG3	RPL27	ATP1A3	IBA57	SPTBN1	KNSTRN	CHEK2	PSPH	KIAA1549	LAMB3	RPL35A	NUP37	MMACHC	SFTPB	IL1RN	DYNC2I1	RPS26	MIF	GATA4	UROS	MAGEL2	NAXD	POLG2	SMS	RPS15A	PLCE1	CTNNB1	CALCRL	METTL27	SLCO2A1	FGB	RDH5	TRIP11	CLCNKA	CEP57	NOS3	FIG4	OCA2	GATM	DHDDS	GAPVD1	LACC1	RPL15	ANGPT2	MYPN	RAD21	PLAA	PLG	SLC12A1	NR0B1	HPGD	ELN	NR1H4	GBE1	GBA	PRKAR1A	KRAS	TCF4	FARSB	RP1L1	FGG	ERCC5	PDSS2	ADAMTS3	TNFRSF1A	SLC5A2	SLC26A2	CYP24A1	SLC25A13	FKBP6	NDN	BRD4	TSHR	POMP	PCCB	PEX5	REEP6	EGFR	CSGALNACT1	BTNL2	B4GALT1	PLCG2	TGFBI	CLCNKB	BUD23	MKKS	ANAPC1	CPN1	SPINK1	PMM2	DNAJC30	GRIP1	CHRND	CYP11A1	HLA-DRB1	FAS	TSPAN12	SCNN1G	CCND1	VPS37D	GUSB	CYP4V2	KIF11	RNF13	TAPT1	C4A	RPS19	LYST	OSGEP	MMAB	SLC1A3	GATA2	AVPR2	LIPN	FRMD4A	SLC29A3	SCNN1B	SLC40A1	TUBB	APOA1	ANTXR2	TMEM260	TRIP13	KLHL40	VEGFC	ZNFX1	B2M	ARHGAP24	HLA-B	ALG14	SAMHD1	HNRNPK	LIG4	GLA	ANGPT1	WNT7A	WDR35	NAGA	AGGF1	KCNJ11	PTPN11	MYBPC3	HDAC8	TBC1D8B	BSND	ABCA12	SLC4A1	AIP	PRKCD	TSHB	ASAH1	TICAM1	RAF1	KIF20A	LAMA3	NSF	GLB1	ACTG1	GSN	UBR1	ATN1	ANTXR1	TALDO1	QRSL1	NUP85	ACAD8	ALG12	RPS28	VPS51	DCHS1	CDK5	PSMG2	COX16	RPL35	NUP107	NDUFB10	EIF2AK3	LZTR1	CFI	RIN2	ABCC9	RPL5	MYO1E	IRAK1	COL4A3	CCBE1	UBAC2	BRAF	ABCC8	VHL	LHX4	STX3	CYP11B2	IVD	INPPL1	CBL	GJC2	COL1A1	SLC4A11	OCRL	SOS1	NPHS2	IGSF3	PSMB4	APOE	TSC2	KLF1	FECH	CD244	CCR1	EPHB4	COQ2	BCKDHB	DUOXA2	DNMT3B	ADA	NRAS	SOS2	CDAN1	ZFP57	PRRT2	MAPK1	CTRC	TLL1	TRIM37	LTBP4	CD79B	PTPN22	APC2	SLC35D1	ARHGDIA	ITK	GATB	ACAD9	BAP1	ZEB1	NIPBL	DCLRE1C	MAP2K1	FOXC2	NUP133	MEFV	CFTR	FOXF1	NEK9	KRT2	RB1	NUP93	RECQL4	PSMB9	NOS1AP	OTULIN	GATC	PRKAG2	KIAA1109	CHD7	CDKN1B	DSP	KRT13	BAZ1B	TP53	NEU1	SMCHD1	ACTA1	HGD	DUX4	ACSF3	EBP	KPTN	RRAS2	AQP2	SERPING1	ENPP1	SNX14	GPR101	SYK	CTLA4	COQ8B	FLT4	TRAPPC2	ERBB3	ATP1A2	ATP7B	PLVAP	DUOX2	IDH3A	NOD2	HESX1	MMUT	GPR35	NKX2-6	MRPS22	PKHD1	MED12L	SPG11	COL1A2	KNG1	SLC35C1	TGM1	ACTN4	RPL31	PRPH2	KIF7	RPS29	HLA-A	SLC5A5	NRL	NEK1	TSR2	CDKN2C	CLIP2	RELN	TBK1	GTF2IRD1	RBM8A	RMRP	EPB41	SFTPC	FASLG	PKLR	IL7R	NAXE	EPCAM	CFH	GATA1	RAG2	LPIN2	TNNT2	PDE6G	CCDC88A	FGFR3	INS	GTF2I	ACTB	AK2	NCF1	DYSF	TIE1	ZNHIT3	BCKDHA	CDKN1A	ACAT1	RPL18	RAG1	ALG1	WT1	GLE1	SPP1	RANBP2	CD28	CHRNG	RHO	CASP10	USP8	ALB	ANKH	MPI	COL2A1	LAMA2	COL5A2	FOXG1	PHGDH	SGPL1	MRAS	BUB1B	STX11	TNFRSF1B	BCL7B	NFKBIL1	KIAA0586	HLA-DPA1	IYD	CACNA1A	RPS10	IKBKG	IL6	SLC26A3	FLNB	SLC17A5	SLC25A4	CCN6	FRG1	OTC	ENG	PIK3CA	KCTD1	MYLK	PIGN	POU1F1	SCN1A	IGLL1	DIS3L2	CIITA	FZD4	HMGCL	TLR3	AKT1	ALG9	ZNF408	SMC1A	CAMTA1	MYD88	NUP160	TGFB1	BCL6	SCARB2	NR2E3	CELSR1	HADHB	VPS33B	CD2AP	BCL2	FGA	KLHL41	DDR2	SLC34A1	TLR4	ARL3	DNASE1L3	RFC2	EMP2	LCT	CD55	PIEZO1	MAGI2	GYPC	LRP5	ABCA3	CD46	PTPN2	TMPRSS15	RP9	CARS2	SPRED2	VSX1	LYZ	MAPRE2	KIT	KCNJ1	HFE	PTH1R	SDR9C7	RLBP1	RASA1	MCM10	ACTC1	HS3ST6	ADARB1	MRPS28	SPINK5	ARHGEF18	NEB	CYBC1	BMP2	COL11A1	RPS24	UROD	IFNGR1	PCCA	MMAA	KIF1A	ADA2	PRTN3	PIK3CD	COG6	CYP4F22	ANKRD55	BUB1	IL2RA	HLA-DPB1	TEK	CHRNA1	IL2RB	IL23R	DYNC2H1	FLNC	MOGS	LMOD3	MLXIPL	FN1	ASL	IRF4	STAT3	ALG8	RRM2B	HBA1	MCEE	CD79A	KCNQ2	ABCC6	MT-CYB	HSPG2	HAVCR2	PRPF31	LIMK1	BLNK	GNPTAB	HADHA	RPS17	RPS7	VAC14	PROP1	TSC1	IL10	CDH11	KAT6A	MYOF	DPAGT1	RPS27	NSD1	NIPAL4	TNNI3	LHX3	SETD2	RPS20	LAMC2	HBA2	ALOX12B	GRHL2	CD247	GPC6	ALPK3	SPTB	ACADM	SMAD4	SLC34A2	MGAT2	EIF2AK4	GNB2	MYO5B	CRB2	MFRP	ANLN	BUB3	ASS1	TBL2	LAMB2	TNFRSF11B	PTPN14	RASA2	PIK3R1	DHCR7	MVK	FAT4	PRSS1	IL2RG	TMEM270	RASGRP1	ACP5	SEMA4D	DYNC2I2	POMGNT1	KCNN4	AGBL1	STX1A	NDUFS4	PRPF8	AHCY	CITED2	DOK7	RPL11	ADAMTS2	MECOM	RPL26	MYH6	PLD1	NR3C2	GTF2IRD2	NDP	MEN1	SLC22A4	GATA6	APOL1	MST1	TPO	MRPS16	SULT2B1	CA12	DBH	MAP2K2	BMPER	NUP205	KLRC4	COL5A1	PIGA	LEMD3	IFT80	OVOL2	TRPC6	NDUFAF6	ANKFY1	BMPR1A	PRSS2	INF2	PEX2	GNAQ	CPS1
HP_AMYLOIDOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMYLOIDOSIS	OSMR	APOA1	TTR	CST3	ASXL1	LYZ	SAA1	GSN	PRNP	APP	B2M	POLA1	APOE	PSEN2	NLRP3	LIG4	ITM2B	MEFV	MMP1	CCND1	SRSF2	SLC7A7	COL7A1	TNFRSF1A	RET	NLRP1	IL31RA	TET2	FGA	KIT
HP_ABNORMAL_RENAL_CORTEX_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_CORTEX_MORPHOLOGY	NF1	NPHS1	FASLG	IL12A-AS1	YRDC	FN1	MYO1E	MT-ND6	FCGR2A	IL12A	TBC1D8B	TMEM67	BSND	TRIM8	LPIN2	ETFDH	CDKN1C	INF2	PRKCD	FAH	AMMECR1	G6PC1	MT-ND3	NUP133	CTLA4	SLC25A11	KCNQ1OT1	COPA	SMARCAL1	IGF2	TRPC6	VHL	OSTM1	WT1	DZIP1L	CEP290	MT-TW	NUP85	PGM3	HLA-B	GATA3	PLCE1	KIRREL1	ERAP1	NPHP1	MT-TH	PAX2	PTPRO	DNMT3A	NUP107	DLST	CASP10	C1QA	MT-CO1	WAS	MT-ND1	COL4A3	MAGI2	CLCNKB	VPS33A	TREX1	STAT4	UBAC2	ZNF699	RNU7-1	DAAM2	CD81	SLC12A3	MEFV	TPRKB	CFI	NPHP3	EMP2	MME	SGPL1	ANLN	ACSL4	XPNPEP3	WDR73	MT-TF	OCRL	HLA-DPA1	JAK1	SLC37A4	LMNB2	ALMS1	APOL1	NPHS2	NUP37	MMACHC	MDH2	ITGB4	NIPBL	MT-CO3	CD96	SDHB	PLEC	TP53RK	CCR1	HNF1B	MT-CO2	KIF1B	JAG1	ELP1	CSPP1	CRB2	MT-TL1	COL4A4	LAMB2	NUP205	MUC1	NPHP4	CFH	DCDC2	PTPN22	NUP160	PKHD1	C4A	GAPVD1	PBX1	CD2AP	RET	ARHGDIA	MT-TK	MTRR	SLC12A1	SLC41A1	FOXP3	APOE	KIAA0586	FOXC2	TLR4	SDHAF2	LIPT2	FCGR2B	DNASE1L3	RASGRP1	IL10	CEP83	MT-TS2	LMX1B	NUP93	CLCN5	INVS	NOS1AP	KCNJ1	ACTN4	MMP1	ETFB	COQ2	SDHC	COL7A1	WIPF1	WDR19	REN	MT-ND5	LMNA	MYOCD	MT-TV	ITGA3	MT-ATP6	C3	COQ8B	SEC61A1	MPDU1	FAS	MTX2	CFHR5	IFNGR1	LAGE3	MT-ND2	DGKE	NEK8	ZAP70	SPRY2	PRTN3	SOX18	DNASE1	MT-ND4	PEX1	SCARB2	C1QB	MAX	OSGEP	FH	AVIL	COQ7	MT-TE	KCNQ1	GON7	ADA	SOCS1	HLA-DPB1	KLRC4	COL4A5	ZNFX1	TTC37	COQ6	SDHA	ARHGAP24	PIGQ	IL23R	TMEM127	ANKFY1	EPAS1	SLC7A7	KCNE5	GLA	ETFA	PEX2	SDHD	MT-TQ	NARS2	DHX16	C1QC
HP_ABNORMALITY_OF_RENAL_EXCRETION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_RENAL_EXCRETION	SARS2	CLDN16	MAGED2	LZTFL1	ENPP1	NPHP3	BSND	SLC12A1	CFB	PLVAP	REN	SLC5A2	NPHP4	SLC41A1	PTPN22	CFHR1	CD46	LPIN1	CCR6	IRF5	RYR1	MT-CO1	CFI	FAM20A	AVPR2	DZIP1L	AGT	CTNS	MYH11	ITPR3	CYP24A1	NPHP1	KCNJ1	CAV1	SON	GALNT3	ACE	ATP1A1	SLC25A20	IL6	CLCNKB	DMP1	CCN2	SLC12A3	KCNJ5	CLDN10	C3	HNF1A	TMEM67	AQP2	MUC1	CASR	CLCNKA	HLA-DRB1	MT-CO3	APRT	AGTR1	CFH	SLC34A1	THBD	KCNJ10	CFHR3	PKHD1
HP_DECREASED_URINE_OUTPUT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_URINE_OUTPUT	MYH11	CAV1	ACE	CFB	REN	SLC25A20	CCN2	CFHR1	CD46	LPIN1	CCR6	C3	IRF5	HLA-DRB1	RYR1	MT-CO3	APRT	MT-CO1	AGTR1	CFI	CFH	DZIP1L	THBD	AGT	CFHR3	PKHD1
HP_ABNORMAL_RENAL_RESORPTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_RESORPTION	CTNS	FAM20A	HNF4A	SLC12A3	COA8	HNF1B	CLCNKB	SURF1	GALNT3	BSND	PIGA	MT-TN	FAH	CEP290	CLCNKA	OCRL	BCS1L
HP_ABNORMAL_HELIX_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HELIX_MORPHOLOGY	RASA2	GPC3	PBX1	CHUK	TGFB3	COMT	SUPT16H	GDF11	CPOX	HOXA2	KRAS	RTTN	RB1	ABCA12	RRAS	EFTUD2	CDKN1C	FREM1	NFIX	RIT1	KIAA0586	MAP2K1	TBX1	RAF1	HSPG2	AFF2	KCNQ1OT1	RECQL4	IGF2	SPECC1L	LONP1	RPS23	CDH2	SOS1	FGFR2	PIGW	TFAP2A	AMER1	PGAP3	STEEP1	ZMIZ1	CPT2	GPC4	CREBBP	PAH	BICRA	SPRED2	PIGN	PIGB	MAP2K2	VPS51	FBN2	PIGY	ZMPSTE24	TWIST1	BCL11A	ALOXE3	PGAP2	PEX5	KANSL1	FGFR3	EBF3	XYLT2	GNAI3	FOXP1	SDR9C7	SEMA3E	BMP2	PIGL	ARVCF	HS2ST1	TCTN3	EDN1	RRAS2	UFD1	EDEM3	DOCK7	FOXP2	LMNA	FRAS1	NR2F1	LZTR1	BRAF	JMJD1C	BHLHA9	DACT1	NIPAL4	SMC1A	DIS3L2	HIRA	SPOP	PIGO	AASS	SLC16A2	MRAS	PPP1CB	SLC6A8	PIGV	PPP2R3C	SALL1	NDP	ALOX12B	CYP4F22	PEX1	TCF4	FANCB	PIGS	SULT2B1	FN1	DSP	FBN1	DDX6	ACBD5	SLC26A2	JUP	KCNQ1	LIPN	PLCB4	ZNF462	TGM1	CLIC2	NIPBL	TASP1	COL2A1	SETBP1	MED12	PIGA	DYRK1A	NF1	EP300	SMS	CHD7	NAA10	NARS1	CSPP1	TAF1	NRAS	SOS2	TBX2	SEC24C	RREB1	ACTB	CBL	GP1BB	BCOR	AGO2	PEX2	GNB1	MAP1B	AMMECR1	ADAMTSL2	PYCR2	PTPN11
HP_ABNORMALITY_OF_THE_INTRAHEPATIC_BILE_DUCT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_INTRAHEPATIC_BILE_DUCT	AKR1D1	TTC26	TNPO3	KIF3B	TMEM67	RPGRIP1L	INPP5E	IL12RB1	IRF5	SPIB	LMNA	JAG1	PEX5	IL12A	PEX1	PEX2	TNFSF15	CC2D2A	LMBRD1	MED12	MMEL1	DZIP1L	POU2AF1	DCDC2	PKHD1
HP_ABNORMAL_BLOOD_POTASSIUM_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_POTASSIUM_CONCENTRATION	TP53	CACNA1S	NOS1AP	GABRA3	HSD11B2	KCNJ5	BSND	SLC12A1	TXNRD2	SLC4A1	SCNN1G	WNK4	SCN4A	KCNQ1	SLC34A1	INSR	SCNN1A	TBX5	CTNS	CALM1	BMPR1A	CYP11B1	STAR	UNC45A	PIEZO1	TRDN	ALDOA	CLCN2	ABCB6	CYP11B2	KCNN4	INVS	SLC2A2	SCN4B	CDH23	SCN10A	KCNJ1	CUL3	HSD3B2	FXYD2	KCNJ18	CLCNKB	COL3A1	RYR1	KCNE2	LPIN1	DEF6	ATP6V0A4	MRAP	MT-CO3	CYP11A1	WNK1	KCNE1	KCNJ10	NR3C2	CYP17A1	MAGED2	SLC12A3	SCNN1B	KLHL3	CASR	CALM2	GATM	SAMD9	EHHADH	NNT	AKAP9	CACNA1D	OCRL	CA12	USP8	MT-CO1	CALM3	AIP	SMAD4	SCN5A	SLC26A3	SLC2A1	SLC30A9	ATP1A1	KCNH2	CAV3	KCNE3	NDUFAF6	MC2R	CLDN10	ANK2	NR3C1	CLCNKA	CACNA1C	KCNJ2	SNTA1
HP_ABNORMALITY_OF_CIRCULATING_ADRENOCORTICOTROPIN_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CIRCULATING_ADRENOCORTICOTROPIN_LEVEL	PRKAR1A	CYP11A1	PDE11A	GLI2	LHX4	LHX3	CDH23	PROP1	POR	TXNRD2	HESX1	NNT	SOX3	PDE8B	ARMC5	CYP11B1	SMARCB1	USP8	STAR	AIP	MC2R	OTX2	BAP1	PRKACA	SUFU	ATRX	MEN1	SMARCE1	NF2	POU1F1	NFKB2	GNAS	DAXX	TRAF7	TERT	FOXA2	PDGFB	SMO	NR3C1	MRAP	AKT1	PIK3CA
HP_ABNORMAL_NUMBER_OF_PERMANENT_TEETH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NUMBER_OF_PERMANENT_TEETH	CREBBP	MSX1	DVL3	MESD	OFD1	LRP6	GNB2	IRF6	EP300	UBR1	RAB23	NECTIN1	WNT10A	BMP4	ARHGAP29	DLG1	TP63	KCTD1	WDR35	RECQL4	RIPK4	C1S	DLX4	C1R	SATB2	CDH1
HP_AGENESIS_OF_PREMOLAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGENESIS_OF_PREMOLAR	FGF3	EDA	MSX1	EDARADD	WNT10A	LRP6	TGFA	SUMO1	IRF6	WNT10B	FGFR1	PAX9	AXIN2
HP_ABNORMALITY_OF_DENTAL_STRUCTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_DENTAL_STRUCTURE	OFD1	DKC1	ITGB4	COMT	TBCE	DSPP	NDN	SFRP4	AMTN	TRPV3	DLX3	TINF2	AGA	HRAS	AXIN2	TCIRG1	GTF2I	NCF1	MMP13	KRT5	TERT	EIF4H	FAM20A	RUNX2	TGFB1	POLR1C	ELANE	ZMPSTE24	SLC24A4	LAMC2	ERCC3	HCCS	MPLKIP	LAMB3	LIFR	DDX59	KRAS	WNT10A	ATR	CTSK	FGF10	WNT10B	CTC1	DMP1	FAM111A	CCN2	GRHL2	GTF2E2	TSC1	COL7A1	GPR68	NHP2	SLC29A3	MYO7A	NTRK1	CDH3	COL5A2	THOC6	NEK1	FAM83H	SLC12A2	NOP10	ENAM	EDA	POLR1D	ATP6V1A	SLC10A7	BCL7B	TTC7A	NF1	PIK3C2A	ALMS1	FGFR2	FAM20C	ABL1	MKRN3	RTEL1	FGF23	EDARADD	GJA1	MSX1	UROS	COG6	PTCH2	BRF1	PDE4D	TARS1	CAV1	IFITM5	WDR35	IFT43	SBDS	OBSL1	DNAJC21	USH2A	METTL27	NPAP1	IFT52	COL1A2	CREBBP	STIM1	AKT1	FIG4	AIRE	CENPJ	ENPP1	LONP1	PLEC	GNAS	GALNS	COL2A1	IRF6	FGFR1	ELN	USB1	SNRPN	TBX1	FERMT1	IL17RA	ERCC8	RFC2	CCR6	CLDN1	LAMA3	SMARCA2	ITGA6	SMARCD2	UBE3B	COL17A1	COL1A1	FKBP6	SRP54	KCNJ2	ROGDI	RAI1	PAX9	ERCC6	PHEX	AP3B1	KRT14	MAGEL2	BUD23	TERC	ANAPC1	DNAJC30	MBTPS2	TCOF1	KIF7	TNFRSF11A	SMOC2	PPIB	FLII	UROD	VPS37D	DEAF1	CRLF1	EP300	PPP1CB	PTDSS1	RELT	PIK3R1	CCDC8	APC	TP63	SNORD115-1	MMP20	PEPD	CDH23	ALDH3A2	PGAP1	COX7B	LMX1B	SLC13A5	SATB1	WDR72	MAPRE2	IFIH1	CNNM4	ATP6V0A2	NDUFB11	STX16	GP1BB	SNORD116-1	LTBP3	TRIP11	PORCN	LRP4	AMBN	SUMO1	SERPINH1	OCRL	PEX1	EFL1	MLXIPL	RAD21	EDAR	IFT122	ODAPH	FLNB	CLEC7A	IRF5	CEP152	LIMK1	KLK4	TGFA	VAC14	LRP6	MMP1	GALNT3	NRAS	ZNF469	SGMS2	IL17RC	ARVCF	SCUBE3	NECTIN1	CDH11	IL17F	FGFR3	VDR	UFD1	SEC24D	PARN	ADGRV1	ITGB6	CENPE	ERCC1	NUP133	SLC35A2	PTCH1	HLA-DQA1	SLC37A4	HIRA	ALPL	PPP1R15B	NPM1	SHOC2	MIA3	AMELX	CLCN7	GTF2H5	TMEM165	GNB2	GLB1	UBR1	WDR19	SEC24C	CSTB	TBL2	ERCC4	ERCC2	CLDN19	TRAF3IP2	PWAR1	TRIM37	RBBP8	DHCR7	B3GALT6	CUL7	CTNND1	CYP27B1	NUP85	TMEM270	NECTIN4	WHRN	RECQL4	CYP2R1	PAX1	FKBP10	ATRIP	STX1A	ACP4	SRCAP	BAZ1B	ORAI1	COL3A1	RNF113A	POLR1B	RBM28	PLK4	P4HB	USH1C	ELMO2	PCNT	JMJD1C	GTF2IRD2	SEC23A	CIB2	RHOA	SUFU	HERC2	KCNJ5	ATP6V1E1	TRPS1	FGF3	IKBKG	TRMT10A	PWRN1	LMNA	C12orf57	PTEN	PKP1	USH1G	COL5A1	HLA-DQB1	PEX6	ZMYM2	TRAIP	ESPN	GATA1	WRAP53	CDH1	PCDH15	RREB1	IQSEC2	CLIP2	TNFSF11	COX4I2	SMCHD1	GTF2IRD1	HLA-DRB1	PDZD7	PERP
HP_MISALIGNMENT_OF_INCISORS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MISALIGNMENT_OF_INCISORS	SCUBE3	DNMT3A	ANKRD11	CHSY1	ATRX	DOCK7	ALX3	TUBGCP2	STAG1	FREM1	RNF2	GATAD2B
HP_ABNORMAL_INCISOR_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_INCISOR_MORPHOLOGY	NTNG2	SRCAP	ZMIZ1	TRMT1	SATB1	KDM4B	IRF6	FGFR1	AXIN2	VPS13B	TBC1D24	CTCF	SLC12A2	EDARADD	PSMD12	CHSY1	MED13	DOCK3	WNT10A	MED27	DLX4	CLCN3	HTT	UBR7	KMT2E	TGFA	CREBBP	GRIA4	HPDL	LRP6	NHS	FGF10	WNT10B	PAX9	KCNK9	EVC2	BMP4	ACTL6B	DLG1	TNRC6B	GLI1	MYT1L	EMC10	CCBE1	LMBRD2	DPYSL5	NEK1	TCF7L2	TANC2	PUS7	PTPN23	TRIP12	SVBP	DDX6	SYNCRIP	BCAS3	MADD	MAPK8IP3	NECTIN1	KCNMA1	EP300	PALS1	ARHGAP29	AGO2	DYNC2LI1	FBXW11	WDFY3	RNF2	WASF1	ACTL6A	FGFR2	COL11A1	BPTF	GJA1	NTNG1	TCF20	IKBKG	MSX1	FARS2	SPTBN1	BRF1	EVC	CNOT3	FGFR3	HUWE1	B3GLCT	GRIA3	BCORL1	RLIM	PURA	EDA	TP63	KAT8	SETD1A	TRAPPC4	CCDC32	JARID2	SUMO1	HS2ST1	ATP6V1B2	ANKRD17	CDH1
HP_ABNORMAL_NUMBER_OF_INCISORS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NUMBER_OF_INCISORS	GAS1	PTCH1	FGF8	SHH	IRF6	FGFR1	AXIN2	EVC	ZIC2	SIX3	BCOR	EDARADD	EIF4A3	TGIF1	STAG2	RIPK4	STIL	CDON	DLX4	TDGF1	TGFA	GLI2	WNT10A	NODAL	LRP6	NHS	FOXH1	DLL1	WNT10B	PAX9	NECTIN1	EVC2	BMP4	DLG1	NEK1	CNOT1	DISP1	DLX3	SMC1A	BLM	ARHGAP29	TP63	MSX1	ANKRD11	SUFU	NAA10	B3GLCT	EDA	SUMO1	CDH1
HP_CONICAL_INCISOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONICAL_INCISOR	MSX1	WNT10A	EVC	FGFR3	LRP6	IRF6	B3GLCT	FGF10	NECTIN1	WNT10B	FGFR1	PAX9	AXIN2	EVC2	BMP4	ARHGAP29	DLG1	EDA	EDARADD	GLI1	TP63	DYNC2LI1	CCBE1	DLX4	FGFR2	NEK1	TGFA	SUMO1	IKBKG	CDH1
HP_SUPERNUMERARY_TOOTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPERNUMERARY_TOOTH	FGF3	RUNX2	KCNH1	FZD2	DHCR7	KRT14	IRF6	APC	MSX2	WNT5A	DYRK1A	ACSL4	EP300	AMMECR1	CCBE1	C2CD3	HSPG2	DYNC2LI1	ROR2	FAT4	RECQL4	RPS23	TRPS1	IL11RA	KCNN3	ADAMTS3	TP63	PUF60	EXT1	CREBBP	DDX59	OFD1	PIGL	DVL3	NHS	SLC37A4	NXN	CAMTA1	NECTIN1	KCNE5	ATP6V1B2	DVL1	MSX1	BCOR
HP_ABNORMALITY_OF_DENTAL_COLOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_DENTAL_COLOR	COL17A1	ENAM	UROS	KRT14	UROD	KRAS	GATA1	SLC13A5	SATB1	KCNJ2	NRAS	GALNS	GLB1	CNNM4	DLX3	HRAS	KCNJ5	ROGDI	USH2A	FAM20A	RELT	WHRN	MYO7A	ALMS1	ADGRV1	PDZD7	ITGB6	AMBN	ITGB4
HP_ABNORMALITY_OF_CANINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CANINE	APC	FGF3	EDA	MSX1	EDARADD	CHSY1	DDX59	WNT10A	LRP6	KDM1A	TGFA	SUMO1	IRF6	WNT10B	FGFR1	PAX9	AXIN2
HP_IMPACTED_TOOTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPACTED_TOOTH	HOXD13	ZMPSTE24	LMNA	FLNA	CDH11	PTH1R	SH3BP2
HP_INCISOR_MACRODONTIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCISOR_MACRODONTIA	PUS7	PTPN23	TRIP12	NTNG2	SRCAP	ZMIZ1	CTCF	SVBP	DDX6	SYNCRIP	TRMT1	BCAS3	MADD	MAPK8IP3	SATB1	KDM4B	KCNMA1	PALS1	VPS13B	AGO2	TBC1D24	SLC12A2	PSMD12	MED13	DOCK3	FBXW11	WDFY3	RNF2	WASF1	MED27	ACTL6A	CLCN3	HTT	COL11A1	UBR7	KMT2E	BPTF	GJA1	NTNG1	TCF20	FARS2	SPTBN1	GRIA4	BRF1	CNOT3	HPDL	HUWE1	GRIA3	BCORL1	RLIM	KCNK9	ACTL6B	PURA	TNRC6B	KAT8	SETD1A	MYT1L	TRAPPC4	EMC10	LMBRD2	CCDC32	DPYSL5	JARID2	HS2ST1	TCF7L2	TANC2	ATP6V1B2	ANKRD17
HP_INCREASED_OVERBITE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_OVERBITE	PRR12	EYA1	ALKBH8	RIC1	EP300	ACP4	SPART	SIX1
HP_PERIPHERAL_DEMYELINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_DEMYELINATION	GDAP1	MT-TL1	MAT1A	LRPPRC	HK1	GBF1	NDUFAF4	LITAF	SH3TC2	TPRKB	FLVCR1	ABCA1	PRX	MT-ND2	KIF1C	FA2H	UBTF	MT-ND3	MPZ	GCDH	SUMF1	PSAP	MT-ND4	TYROBP	DNM2	SPTBN1	PRPS1	MOCS2	COQ7	PMP22	MMACHC	MT-ND6	NEFL	SURF1	ARSA	GALC	MTTP	MT-TK	MT-ND5	MOCS1	MT-TW	LMNB1	ARHGEF10	SOX10	MT-TV	MT-ATP6	CTDP1	NDRG1	SBF2	PLP1	EGR2	MT-ND1
HP_EPILEPTIC_SPASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPILEPTIC_SPASM	DCPS	CACNA1I	PIGA	NCDN	KDM4B	PURA	CDKL5	NEUROD2	TRIM8	HK1	MED25	PIGC	ALG14	MT-ND3	SRPX2	CDH15	ASAH1	ZC3H14	TBCD	SCN2A	KCNQ2	KIF1A	ZNHIT3	TSC2	NSF	CDH2	CNPY3	TRAPPC9	SARS1	GRIK2	KCNB1	ERBB4	MYT1L	CACNG2	TSC1	PHACTR1	SIK1	NEXMIF	CUL3	ST3GAL3	DCX	STRADA	DOCK7	DPAGT1	DOLK	C12orf4	GNAO1	CC2D1A	IQSEC1	SMC1A	SLC35A2	AKT3	RALGAPA1	CAMK2B	MED12L	FMN2	GRIN1	SLC1A4	TSEN34	MBD5	PIGQ	ZMYND11	CIC	NTNG1	FRRS1L	TSEN15	TRPM3	DLL1	ASH1L	NBEA	SEPSECS	CUX1	KIRREL3	SPTBN1	DHX37	MBOAT7	MMACHC	TCF4	PLCB1	HNMT	ARX	CHAMP1	SCN1A	SETBP1	DEAF1	KCNA1	MGAT2	CRBN	GRM7	TTC5	EPB41L1	SLC25A22	TSEN54	GRIN2A	IFNG	LINS1	TUSC3	VPS53	NPRL3	FBLN1	LMAN2L	LONP1	MAPK1	TANGO2	MT-TW	ALDH7A1	UBE4A	NSUN2	EZR	MT-ND1	MT-TL1	RSRC1	TNIK	GAD1	CLIP1	PIK3CA	PRICKLE2	EHMT1	SMARCA2	ALG13	SCN8A	APC2	WASHC4	TSEN2	NPRL2	NGLY1	PGAP1	CAMK2A	HIVEP2	PHGDH	PPP3CA	UGDH	UFSP2	GCDH	CELF2	PAFAH1B1	NDST1	SLC25A10	GRIN2B	STXBP1	CDK19	CDC40	SET	SPATA5	MT-TK	EEF1A2	HIBCH	NAA20	NTRK2	TECR	FBXO31	SLC12A2	SLC19A3	DYNC1H1	PI4KA	MT-TV	DMXL2	MT-ATP6	ACTL6B	GUF1	WDR45	KDM5B	PNKP	SPATA5L1	MFF	SLC45A1	SETD1B	PRSS12	B3GALNT2	PTPN23	PLPBP	SPTAN1	BTD	SLC13A5	CASK	SCN1B	MT-ND2	KCNQ5	CRADD	RNF13	METTL23	MT-ND4	ALKBH8	CLTC	AIMP1	DOCK8	PDHA1	NDUFAF8	RAB11A	MT-ND6	EDC3	MED23	MAN1B1	CSNK2B	ADGRG1	TRAPPC12	PSAT1	PPIL1	DEPDC5	BRSK2	SYNGAP1	MT-ND5	TAOK1	CLCN4	PIGP	GABBR2	COX4I1	NEMF	ALG2	AP1G1	RNU4ATAC	MECP2	DHX16	TUBA8
HP_SPEECH_APRAXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPEECH_APRAXIA	KDM6B	PUS7	MED13	PTPN23	NONO	TRIP12	CHD3	NTNG2	SRCAP	ZMIZ1	FRRS1L	SVBP	DDX6	SYNCRIP	GRIN2A	PURA	TRMT1	BCAS3	STUB1	SH2B1	SRPX2	RAI1	KANSL1	MADD	MAPK8IP3	SATB1	KDM4B	KCNMA1	SPART	PALS1	MAPT	AGO2	SLC12A2	PSMD12	DOCK3	POU4F1	FBXW11	WDFY3	RNF2	WASF1	MED27	ACTL6A	CLCN3	HTT	UBR7	KMT2E	BPTF	TRAPPC11	NTNG1	TCF20	SLC25A15	RNF135	SPTBN1	GRIA4	GALK1	CNOT3	HPDL	HUWE1	DLAT	EBF3	BCORL1	RLIM	PACS1	ACTL6B	TNRC6B	USP7	KAT8	SETD1A	MYT1L	GALT	TRAPPC4	CHD1	EMC10	FOXP2	LMBRD2	CCDC32	FOXP1	DPYSL5	JARID2	HS2ST1	TCF7L2	TANC2	ANKRD17
HP_INTESTINAL_ATRESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTESTINAL_ATRESIA	RERE	RFWD3	RFX6	GAS1	FLI1	FGF8	TTC7A	RTTN	CHRM3	BUB1B	FANCF	SALL1	PTCH1	FOXF1	FANCB	SIN3A	NODAL	BUB1	TDGF1	SIX3	CFAP45	MYH11	GLI2	CDON	MIR17HG	TRIP13	ZIC2	KDM3B	CENPF	FBN2	SUFU	SON	ITGB4	SHH	TGIF1	RAD51C	MYCN	FGFR1	DLL1	WBP11	CHD7	BUB3	TCTN3	CEP57	DIS3L2	FOXH1	PPP1R12A	PIGN	STAG2	DYRK1A	DISP1	PORCN	ZNF699	ITGA6	SEMA3E	SPINK5
HP_ABNORMAL_LEFT_VENTRICULAR_OUTFLOW_TRACT_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LEFT_VENTRICULAR_OUTFLOW_TRACT_MORPHOLOGY	TRIP13	NKX2-5	PTPN11	WDPCP	MYH6	TAB2	GNB2	FGFR1	CAV3	IFIH1	BUB1B	HDAC4	ALG9	BUB3	CEP57	SMAD6	MYH7	NOTCH1	GATA5	BUB1	MYLK2	SYT2
HP_ABNORMALITY_OF_BLOOD_VOLUME_HOMEOSTASIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_BLOOD_VOLUME_HOMEOSTASIS	FSHR	ABCC8	MYLK	CYP11A1	TGFBR1	GCK	LOX	ACTA2	SMAD3	STX3	AVPR2	MYO5B	PDX1	MAT2A	TGFB3	STAT3	SMAD4	ELN	HEY2	INS	SMAD2	CTNS	TGFBR2	AQP2	KCNJ11	MYH11	FBN1	TGFB2	FOXE3	PRKG1	MFAP5
HP_RECURRENT_SINUSITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_SINUSITIS	RSPH4A	SH3KBP1	COL5A1	MGP	WAS	MDM4	ICOS	DOCK8	CFI	DNAAF2	DNAAF4	PRKCD	DNAAF11	IL21R	DNAAF5	STXBP2	ODAD2	NME8	ODAD1	RSPH1	ACP5	MAGT1	STK36	CD19	SPAG1	ALMS1	COL5A2	PSMB8	DNAAF6	TNFRSF13B	CR2	DNAH5	IGHM	FCGR3A	DNAI2	USB1	HYDIN	TNFRSF13C	NFKB1	NFKB2	GAS2L2	ZMYND10	PIK3CD	RAC2	UNC119	CFAP298	NEK10	IVNS1ABP	RNF168	IL17RA	IKBKB	ADA2	IRF2BP2	CCDC65	LRBA	MCIDAS	DNAJB13	NCF4
HP_CHRONIC_SINUSITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_SINUSITIS	HYDIN	TGFB1	ZMYND10	DRC1	DNAI1	CCDC40	FCGR2A	RSPH3	MCIDAS	DNAAF2	ODAD4	DNAH5	RSPH9	CCDC39	STK36	GAS2L2	CCDC103	DNAAF11	CFAP300	SPAG1	ODAD1	DNAL1	TTC12	CCNO	TAP1	ODAD2	CFAP45	CFAP52	CD79B	CFAP298	DNAAF1	FOXJ1	IGKC	PGM3	MGP	NEK10	DNAAF4	ODAD3	DNAAF5	LRRC56	GAS8	RPGR	RSPH4A	RSPH1	DNAAF3	DNAH9	CCDC65	DNAJB13	OFD1	IGHG2	TAPBP	DNAH11	TAP2	RNF168	NME8	BLNK	DNAI2	CFAP221	SPEF2	DNAH1	DNAAF6	CFTR
HP_RECURRENT_TONSILLITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_TONSILLITIS	IGKC	MPEG1	SCNN1B	IGHG2	BLM	CYBC1	SCNN1A	SCNN1G	ELANE	RIPK1
HP_ABNORMALITY_OF_IMMUNE_SERUM_PROTEIN_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_IMMUNE_SERUM_PROTEIN_PHYSIOLOGY	NR1H4	STX11	FASLG	IL2RA	RNASEH2B	ATP8B1	FAS	ANKRD55	STAT1	UNC13D	ABCB11	IL12RB1	POLA1	MEFV	ABCB4	ADAR	CD247	PRKCD	CASP10	HMOX1	STAT4	RASGRP1	RNASEH2A	PTPN22	PTPN2	TREX1	RNASEH2C	IL2RB	PRF1	STXBP2	PSMB8	IFIH1	FADD	IL6R	SP110	NFKBIA	SAMHD1
HP_ABNORMALITY_OF_CYTOKINE_SECRETION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CYTOKINE_SECRETION	STX11	MEFV	PRF1	STXBP2	UNC13D	NFKBIA
HP_ABNORMALITY_OF_TUMOR_NECROSIS_FACTOR_SECRETION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_TUMOR_NECROSIS_FACTOR_SECRETION	STX11	MEFV	PRF1	STXBP2	UNC13D
HP_ABNORMALITY_OF_THE_NASAL_DORSUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_NASAL_DORSUM	CANT1	PTCH1	DONSON	TBCE	SOX9	ATR	XRCC4	SHH	TMEM216	RNASEH2A	SIX3	PEX12	APC	PAX3	ARSL	TGIF1	CTBP1	CTSK	STAG2	ERF	C12orf57	CEP152	TCTN2	ALDH18A1	FGFR2	HSPA9	TWIST2	GREB1L	DZIP1L	ZMPSTE24	NUP188	SATB2	PRKCZ	FAM20C	B9D1	CSPP1	PRMT7	SLC2A10	TMEM237	TWIST1	CDON	FOXH1	DLL1	CHRNG	UBE4B	FGF8	RPL10	FGFR1	ZIC2	WRN	LMNA	FOXA2	GLI2	CREBBP	PAX7	COG4	RNASEH2C	GHR	PEX1	HESX1	IFIH1	CENPE	TDGF1	RET	EDAR	SLC25A24	MBTPS2	ASPH	PTPN11	RNASEH2B	TBL1XR1	GMNN	TFAP2B	METTL5	COL3A1	CEP290	KCNAB2	EFNB1	ABCA12	GAS1	CENPT	EFEMP2	BUB1B	NALCN	SHANK3	ZEB2	STIL	WDR73	FOXC1	CLCN3	SMC1A	COL1A1	TRAF6	NBN	AP4M1	KDF1	MMP23B	ITGA8	POLR3A	OTX2	RPGRIP1L	NFKBIA	HDAC6	NRAS	PSAT1	POLD1	NODAL	PDPN	TBX1	MGAT2	PRDM16	RPGRIP1	SLC37A4	UBR1	DISP1	BUB3	PEPD	ITCH	NSD2	SUZ12	CEP57	EDARADD	RBBP8	TMEM231	ATP7A	ZPR1	SAMHD1	FBN1	PKHD1	PDE4D	B9D2	CENPJ	HSPG2	ADAT3	CPLX1	FGFRL1	SPEN	RERE	PROP1	NHEJ1	ADAR	FBXL4	NUP85	VPS13B	SNAP29	MAN2B1	LIG4	LHX4	FGF20	HNRNPK	ATRIP	CNOT3	PIGL	EDA	POU1F1	FGFR3	IL2RA	RUNX2	CSGALNACT1	RPS19	TCTN3	MEIS2	ERCC2	CASZ1	EBP	PLK4	LMBR1	GLB1	LBR	TXNDC15	RMRP	MYH3	MSL3	TCTN1	DNA2	GRIP1	DMXL2	HRAS	TRAIP	GLI3	PCNT	CHRND	MTX2	ERCC4	AASS	ATRX	ALX4	EP300	LETM1	PPP2R3C	LUZP1	SOX3	WNT9B	BANF1	TMEM107	SMARCA2	BUB1	COL1A2	ALG9	SLC35C1	TMEM67	BMPER	PTF1A	MKS1	TRIP13	TTC37	CC2D2A	PYCR1	STAT5B	GABRD	SKI	LEMD2	CHRNA1	SOST	MN1	PRKAR1A	TREX1	EDA2R	CEP55	IGF1	LRP4
HP_CONCAVE_NASAL_RIDGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONCAVE_NASAL_RIDGE	CANT1	FOXC1	EBP	SOST	PEPD	STAT5B	ZEB2	SLC37A4	IGF1	IL2RA	KDF1	DMXL2	FBXL4	NFKBIA	SHANK3
HP_ABNORMALITY_OF_SKIN_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SKIN_PHYSIOLOGY	CIITA	TNPO3	IL12A-AS1	CTLA4	IL7R	COMT	IL12A	WAS	RTTN	RIPK1	BRAF	RAG2	SMG8	LPIN2	KANSL1	CLEC7A	SLURP1	MNX1	IL6ST	GATA3	ERCC3	NFE2L2	AK2	ASPRV1	EBP	PTPN3	PDE8B	GTF2H5	KRT10	KRT5	SCN9A	HDAC4	TCF3	TCF4	MED12	PSMB10	UNC45A	ELANE	HLA-DRA	IGKC	HLA-B	MPLKIP	ATP8B1	RAG1	AR	ERAP1	CDSN	PRMT7	PNPLA1	SPP1	DSP	ALOXE3	CD28	CD3D	RRAS2	NFKB2	IKZF3	ERCC5	USP8	PLA2G7	GTF2E2	COL7A1	STAT1	FOXN1	PRF1	ACADVL	IRF2BP2	TREX1	RNASEH2C	STAT4	ALOX12B	POGLUT1	ERCC2	KDSR	PAH	TGM1	IFIH1	PSTPIP1	CASP8	CARD14	RNU7-1	OSMR	RAC1	TFRC	TBCK	HPGD	ABCC6	EDA	LRRC8A	IL12RB1	KRT1	IGHM	STAT3	CASR	CDH23	ABCA12	SREBF1	STX11	TNFRSF1B	SULT2B1	GJB2	TTC7A	PSENEN	TRAF6	RIT1	HLA-DPA1	JAK1	NRAS	KNSTRN	AP1S3	LAMB3	TJP2	LYST	MSN	MS4A2	SRP54	MBTPS2	LCP2	IL1RN	IKBKG	IL6	MIF	PRKACA	KRT14	LHCGR	UROS	SUOX	ARMC5	BTD	IL10RB	NAXD	TARS1	AUTS2	ITGB4	MEFV	NLRP3	HYOU1	FLI1	SBDS	FLG	SPTA1	ABCB4	ESR1	DNAJC21	SCN10A	SLCO2A1	DHCR7	IGLL1	JAK2	UBA1	EDARADD	NCF4	LRBA	POU2AF1	SP110	LACC1	AIRE	SAMHD1	MPL	CARD9	EXTL3	ADAR	NSUN2	SMARCA2	ENPP1	TBX1	FERMT1	EGFR	TLR4	XIAP	IL17RA	DNASE1L3	TET2	TRPM4	MRTFA	RBP4	LBR	SLC4A1	LIG4	CYBB	NLRC4	IL4R	ADAMTS3	TNFRSF1A	SIK3	SLC27A4	FERMT3	SCNN1A	LYZ	SLC39A4	CASP10	POMP	PCCB	IRF5	SPIB	KRT17	RFX5	JAK3	SMARCC2	NFKB1	NCKAP1L	FOXP1	SDR9C7	BTNL2	B4GALT1	IGHG2	BLM	AP3B1	PLCG2	ATP2A2	KDF1	FGFR2	ABCB11	NIPAL4	TEK	CDK10	IL17F	RFXAP	SPTB	NOD2	FOXP3	RNU4ATAC	CLTRN	SPINK5	PRKAR1A	BRCA1	CYBC1	HLA-DRB1	UROD	IFNGR1	MYSM1	HLCS	DCLRE1C	IFNG	PCCA	NLRP12	IL2RG	LIPA	BTK	ADAM17	H6PD	C4A	BRCA2	SRSF2	PRTN3	PIK3CD	CYP4F22	LDHA	CYP11B1	KIT	LIPN	WNT4	KIF11	CFTR	PEPD	LRRC32	SLC29A3	HLA-DPB1	SDHC	SDHA	APOA1	SCNN1B	MBL2	PAPSS2	ZNFX1	USP53	UNC13D	PTPN22	B2M	ANK1	TAF1	PDGFRA	IL23R	GJB3	CACNA1G	IVNS1ABP	GP1BB	NR3C1	RNASEH2A	IKBKB	DDX41	ADA2	ASXL1	MVK	ACP5	NBEA	FGA	SLC6A19	EFL1	FCGR2A	TNFAIP3	STING1	GFI1	LRP1	SMARCAD1	CSTA	FH	RFXANK	AIP	TKT	STAT5B	CD79A	PSEN1	DSG1	ZNF341	XYLT1	GJC2	LAMA3	BLNK	HSPA9	GSN	POFUT1	MMEL1	PSMB8	DOCK8	TMC8	PGM3	NR1H4	PTPRC	MC1R	TGM5	MPEG1	IL7	CARD11	FLG2	SCNN1G	SLC30A2	IL17RC	NCF2	ARVCF	CD247	CTSB	IRAK1	UFD1	LSS	CTSC	CCBE1	MCCC2	UBAC2	ECM1	ITGA6	TP63	EDAR	NSMCE3	BCL11B	SCN11A	RNASEH2B	HLA-DQA1	CD3E	HIRA	CFI	STX3	SHOC2	AP1B1	LAMC2	NUP107	MYD88	TRPV3	DSE	ERCC4	IL10RA	GPNMB	PSMB4	IL6R	MIA3	GNA11	FECH	AGA	SHANK3	CCR1	GNB2	PKHD1	ADA	LEMD3	DCDC2	GNAS	SEC24C	EPAS1	EPOR	TRAF3IP2	TMC6	PMVK	GINS1	FAM111B	TCIRG1	CD79B	CARMIL2	CYBA	RUNX1	TGFB1	PIK3R1	NCF1	EPB42	ZAP70	CD3G	POLE	CCDC47	LMBRD1	FOXC2	AQP5	FCGR2B	FAT4	IL10	SEMA4D	RBCK1	MVD	MTHFD1	MORC2	PSMB9	SRD5A3	MPDU1	OTULIN	C5	PNPLA2	THPO	PIK3CA	CHD7	IL2RA	CERS3	MMP1	RNF113A	MEIS2	CHST14	WIPF1	TOM1	UBE2A	HLA-C	GPR101	SYK	JMJD1C	GJA1	FLT4	PDE11A	KRT74	NEK9	CBL	HSD3B7	ATP7B	MSMO1	GPR35	GJB4	DNASE1	MST1	ZNF750	SLC17A9	IL36RN	TNFSF15	PKP1	STXBP2	IPO8	IL31RA	HLA-DQB1	DSG4	KLRC4	POLR3A	CIB1	FDPS	PIGA	NCSTN	GATA1	SDHB	MYO5B	WDR1	EPG5	SH3PXD2B	RREB1	PERP	COX4I2	FAS	GJB6	RBM8A	RMRP	KIF12
HP_ABNORMAL_EPIDERMAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EPIDERMAL_MORPHOLOGY	SAMHD1	DSC3	TGM1	AAGAB	CHST8	TGM5	KRT9	CIB1	LRP1	CSTA	SLURP1	WNT10A	IKZF1	EGFR	DSG1	JUP	ATP2A2	EBP	KDSR	MBTPS2	EXPH5	CLDN1	DCAF17	XYLT1	KRT2	SMARCAD1	COL14A1	SLC27A4	ALOX12B	KRT1	SERPINB7	MPDU1	ZMPSTE24	CDSN	CAST	KRT13	IL2RA	ATP2C1	GRHL2	CYP4F22	RASA1	RNF168	CASP14	GJA1	NIPAL4	KRT16	DSP	NLRP1	OSMR	KRT74	LIPN	LMNA	KRT6C	PKP1	ADAM17	PPP2R3C	SULT2B1	CARD14	LDHA	IL7R	ABCC6	CYP26C1	IL36RN	KIT	HLA-B	KIF11	IL1RN	KRT10	SERPINB8	XYLT2	GJB2	GNB2	FLG	CERS3	LORICRIN	ELOVL4	PERP	GJB3	ENPP1	AKT1	ALOXE3	GJB6	LRBA	CARMIL2	POGLUT1
HP_ABNORMALITY_OF_DERMAL_MELANOSOMES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_DERMAL_MELANOSOMES	AP3D1	RAB27A	LYST	AP3B1	MYO5A	GPR143
HP_INCREASED_SENSITIVITY_TO_IONIZING_RADIATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_SENSITIVITY_TO_IONIZING_RADIATION	RNF168	TRAF7	NSMCE3	TERT	SUFU	MRE11	PDGFB	SMO	SMARCE1	SMARCB1	NF2	AKT1	BAP1	PIK3CA
HP_LOW_GRADE_FEVER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_GRADE_FEVER	IL2RA	STAT4	MPL	TET2	PTPN22	JAK2	CALR	IL2RB	CD247	ANKRD55	PTPN2
HP_APLASIA_HYPOPLASIA_OF_THE_SWEAT_GLANDS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_SWEAT_GLANDS	LMNA	TBX3	NTRK1	KDF1	CHUK	EDA	NFKBIA	ZMPSTE24	IKBKG
HP_SYMPTOMATIC_SEIZURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYMPTOMATIC_SEIZURES	ABCC8	GCK	GLUD1	POMC	UCP2	POGZ	SLC37A4	HADH	PCSK1	GNAS	AKT2	KCNJ11	GCM2	CYP27B1	TXNRD2	NNT	HNF1A	GATA3	FAM111A	MC2R	TBCE	STX16	TANGO2	PROP1	VDR	CYP2R1	MRAP	STAR	TBX19	INSR	SLC16A1	TNFRSF11A
HP_DIALEPTIC_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIALEPTIC_SEIZURE	UBE3A	TSC1	KCNMA1	SUPT16H	CACNA1I	SLC2A1	SZT2	VPS35L	CLCN4	NEUROD2	TRIM8	CACNA1A	CEP85L	DPM1	KCNQ3	GABRB3	KIF4A	FAR1	CDH15	TICAM1	SCN2A	TBC1D24	KIF1A	GABRG2	ZNF41	PCDH19	CHD2	GDI1	KCNT2	GABRA1	FTSJ1	CLCN2	CDH2	AP2M1	MTHFR	NHLRC1	ATAD3A	FGF13	SCN1A	GRIK2	SCN9A	PRRT2	KCNB1	CDKL5	CILK1	NFKB2	ERBB4	GPAA1	MYT1L	TRAF3	CACNG2	NEXMIF	SLC9A7	STRADA	DOCK7	LAMA2	CSTB	CNKSR2	PDE2A	NSD1	GNAO1	PIGT	ADGRV1	WAC	GOSR2	CAMK2B	CRIPT	MED12L	JRK	DPM3	MTOR	GRIN1	SETD2	UNC93B1	EFHC1	MBD5	PIGQ	GAL	ZMYND11	DMD	CIC	EPM2A	CACNA1H	ZEB2	ARHGEF6	TRPM3	SYNGAP1	SCN1B	DLL1	VPS11	SLC6A1	ASH1L	MECP2	NBEA	IQSEC2	CUX1	KIRREL3	ACSL4	ALMS1	TCF4	NUBPL	ARX	SYP	WDR26	CHAMP1	DEAF1	KCNA1	ZNF711	GABRD	DNM1L	POGZ	TSPAN7	KCNQ2	EPB41L1	GNB2	CUX2	NPRL3	MED12	GRIN2A	MICAL1	TANGO2	ALDH7A1	ALDH4A1	ASAH1	TLR3	STX1B	USP9X	HCN1	FIG4	CPA6	ATP6V1B2	CACNB4	APC2	SLC35A3	SCN8A	AFF3	TGFB1	IL1RAPL1	DHFR	ADGRG1	TSC2	SMPD1	PRICKLE2	EHMT1	DYRK1A	OPHN1	SMARCA2	PTEN	NPRL2	NGLY1	CAMK2A	HIVEP2	ARHGEF9	DLG3	PHGDH	PPP3CA	GAMT	RORB	CLN8	MID2	PAFAH1B1	PIGM	SLC12A5	GRIN2B	SET	SPATA5	EEF1A2	HNRNPK	SON	ACSF3	FRMPD4	SIK1	ALG13	DYNC1H1	RAB39B	STEEP1	GRM7	KDM5B	RELN	PNKP	SPATA5L1	DMXL2	SETD1B	FRRS1L	PLPBP	SLC13A5	PNPLA8	CASK	AGTR2	KCNQ5	SATB2	CACNA1D	CLTC	DOCK8	RAB11A	UPF3B	RPS6KA3	FMN2	LGI1	CSNK2B	PGAP1	ZNFX1	NUS1	SATB1	GLUD1	PTCHD1	DEPDC5	DNM1	ALDH5A1	BRSK2	USP27X	PAK3	TAOK1	MAPK10	PIGP	ZNF81	DHDDS	SLC25A22	TBK1	SRPX2	GNB1	ATXN10	RNU4ATAC	HCFC1	GATAD2B
HP_TYPICAL_ABSENCE_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPICAL_ABSENCE_SEIZURE	GRIN1	WAC	SETD1B	FRRS1L	PLPBP	CACNA1I	SLC2A1	ADGRG1	SLC13A5	CAMK2B	MED12L	JRK	DPM1	PRICKLE2	KCNQ5	MBD5	DYRK1A	ZMYND11	SATB2	CIC	CACNA1H	CDH15	PTEN	TRPM3	KIF1A	GABRG2	DLL1	ASH1L	NBEA	CUX1	KIRREL3	CLTC	CAMK2A	HIVEP2	DOCK8	RAB11A	ALMS1	TCF4	CHAMP1	GABRB3	PPP3CA	CSNK2B	DEAF1	GABRA1	EPB41L1	GRIN2B	BRSK2	SET	EEF1A2	ERBB4	SYNGAP1	MYT1L	TAOK1	HNRNPK	CACNG2	ALDH7A1	ALDH4A1	DYNC1H1	ASAH1	GRIN2A	KDM5B
HP_MYOCLONIC_ABSENCE_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOCLONIC_ABSENCE_SEIZURE	SCN1A	KCNMA1	GABRG2	FRRS1L	DHDDS	SLC2A1	GABRA1	JRK	SETD1B	GRIN2A	CACNA1H	SYNGAP1	GABRB3
HP_EARLY_ONSET_ABSENCE_SEIZURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EARLY_ONSET_ABSENCE_SEIZURES	DPM1	PLPBP	ALDH7A1	SLC13A5	ALDH4A1
HP_FOCAL_MOTOR_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_MOTOR_SEIZURE	GRIN1	SLC12A5	GABRG2	CACNA1I	PURA	PIK3CA	KANSL1	PRICKLE2	SCN1A	KCNQ3	FAR1	DPYD	KCNQ2	CDH15	KCTD7	KIF1A	PRRT2	SMARCAL1	PCDH19	SDHB	NGLY1	GABRA1	CAMK2A	HIVEP2	SDHA	CLN5	TMEM231	PPP3CA	CRH	CHRNA2	SCN9A	PAFAH1B1	GRIN2B	SET	EEF1A2	ERBB4	CABP4	MYT1L	CACNG2	KCNT1	DEPDC5	DYNC1H1	SIK1	EN1	DPAGT1	ATP1A2	DMXL2	CHRNA4	ARX	KDM5B	RELN	AP3D1	SETD1B	AKT3	PTPN23	FRRS1L	PLPBP	BTD	SLC13A5	CAMK2B	MED12L	GRIN2A	KCNQ5	MBD5	ZMYND11	CIC	CACNA1D	TRPM3	SCN1B	HACE1	DLL1	SCN2A	ASH1L	ATP1A3	NBEA	CUX1	KIRREL3	CLTC	DOCK8	RAB11A	CACNA1A	SLC1A3	TCF4	LGI1	CHAMP1	CSNK2B	CHRNB2	DEAF1	SCN8A	SATB1	SMS	EPB41L1	SLC25A22	BRSK2	SDHAF1	SYNGAP1	CAMTA1	TAOK1	CLCN4	MICAL1	SDHD	TBC1D24	EXTL3	ALDH7A1	SRPX2	ATXN10	PYCR2
HP_FOCAL_AUTONOMIC_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_AUTONOMIC_SEIZURE	RELN	LGI1	MICAL1	DEPDC5	KCNQ3	GAL	KCNQ2
HP_FOCAL_SENSORY_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_SENSORY_SEIZURE	RELN	NHLRC1	CACNA1A	MICAL1	ADGRG1	PRRT2	EPM2A	KCNA1	CNTN2	PI4KA	TREX1	ATP1A2	LGI1	GAL	SCN1A	SRPX2
HP_FOCAL_SENSORY_SEIZURE_WITH_VISUAL_FEATURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_SENSORY_SEIZURE_WITH_VISUAL_FEATURES	RELN	NHLRC1	MICAL1	EPM2A	LGI1	CNTN2
HP_FOCAL_MYOCLONIC_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_MYOCLONIC_SEIZURE	AP3D1	KCTD7	HACE1	SDHD	PLPBP	EXTL3	ALDH7A1	SLC13A5	SDHB	SATB1	SDHA	SLC25A22	SIK1	GRIN2A	CLN5	SDHAF1	PYCR2	TMEM231	CAMTA1	CACNA1D
HP_FOCAL_TONIC_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_TONIC_SEIZURE	SCN2A	AKT3	PRRT2	NGLY1	SCN8A	PURA	KCNQ2	SLC25A22	SIK1	EN1	PIK3CA	KCNQ3	CLCN4
HP_GENERALIZED_CLONIC_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_CLONIC_SEIZURE	SCN2A	PNKP	DMXL2	GABRG2	TRIM8	KCNA1	SCN9A	ACSF3	SCN8A	SATB1	NEUROD2	CASK	KCNQ2	CDKL5	SCN1B	GRIN2A	DPM2	SCN1A	KCNQ3	PIGQ	PCDH19	PIGP	PSAP	SIK1	PRRT2	GABRA1	SLC25A22	GRM7	GNAO1	ARX
HP_GENERALIZED_MYOCLONIC_ATONIC_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_MYOCLONIC_ATONIC_SEIZURE	MED13	SCN1A	SYNGAP1	AP2M1	SLC6A1	NEXMIF	SLC2A1	CHD2
HP_SIMPLE_FEBRILE_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SIMPLE_FEBRILE_SEIZURE	SCN2A	WAC	SCN8A	DEPDC5	KCNQ2	AASS	TSEN54	TSEN34	KCNQ3	NPRL3	TSEN15	SYNGAP1	SLC6A1	TSEN2	PRRT2	SLC2A1	CHD2	SEPSECS	NPRL2	TBC1D24	SCN1A	DYRK1A	NEXMIF	AP2M1	CPLX1
HP_COMPLEX_FEBRILE_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMPLEX_FEBRILE_SEIZURE	PCDH19	CACNA1A	COG4	SCN8A	SCN1A	SCN1B	GABRG2	PRRT2	SCN2A	SCN9A	GABRA1	PDE2A	ATP1A2	FAR1	ADORA2A
HP_EEG_WITH_FOCAL_EPILEPTIFORM_DISCHARGES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_FOCAL_EPILEPTIFORM_DISCHARGES	UBE3A	KCNMA1	RSRC1	TBC1D2B	GABRG2	TRIM8	DCPS	TNIK	CHD2	NCDN	NEUROD2	CACNA1A	SRPX2	CLIP1	PIK3CA	KANSL1	MED25	PIGC	DPYD	KCNQ2	KCTD7	LGI1	ZC3H14	SCN2A	SCN1A	PIGG	SLC6A1	WASHC4	PCDH19	NPRL2	PGAP1	GABRA1	TBC1D24	SYT1	DEPDC5	KCNQ3	CLN5	ARHGEF9	AP2M1	TRAPPC9	CRH	SARS1	CARS2	UFSP2	CHRNA2	SCN9A	NDST1	SLC25A10	CDKL5	SPATA5	NAA20	CABP4	TECR	FBXO31	SLC12A2	KCNT1	PRPS1	SIK1	PPP3CA	DOCK7	GABRB3	PI4KA	LRPPRC	DOLK	C12orf4	CNTNAP2	ATP1A2	GRM7	GNAO1	CHRNA4	PIGT	P4HTM	RELN	CC2D1A	PNKP	IQSEC1	DMXL2	SLC45A1	PRSS12	AKT3	B3GALNT2	FRRS1L	PLPBP	SLC13A5	GRIN2A	MED13L	KDM5B	CASK	CLTCL1	GRIK2	SCN1B	FMN2	CRADD	RNF13	PIGQ	SYNGAP1	METTL23	ST3GAL3	ST3GAL5	ALKBH8	SLC2A1	CUX2	SPTBN1	AIMP1	SLC35A2	PDHA1	FGF12	TFE3	MBOAT7	HNMT	ARX	EDC3	CPLX1	MED23	MAN1B1	MECP2	CHRNB2	ADGRG1	KCNA1	DAG1	PSAT1	CRBN	SATB1	COQ2	TTC5	DNM1	LINS1	TUSC3	NPRL3	CLCN4	LMAN2L	LONP1	MAPK10	PIGP	PRRT2	ALDH7A1	UBE4A	SLC25A22	NSUN2	PDSS2	EZR	NEMF	GNB1	IQSEC2	AP1G1	NEXMIF	ACTL6B	MYD88
HP_EEG_WITH_FOCAL_SPIKES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_FOCAL_SPIKES	CRH	CHRNB2	ADGRG1	AKT3	CHRNA2	COQ2	PIK3CA	GRIN2A	CABP4	SRPX2	CLCN4	LONP1	KCNT1	PIGG	DEPDC5	PI4KA	PDSS2	PDHA1	SYT1	TFE3	CNTNAP2	CLN5	ARHGEF9	CHRNA4
HP_EEG_WITH_FOCAL_SHARP_SLOW_WAVES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_FOCAL_SHARP_SLOW_WAVES	MAPK10	DNM1	CACNA1A	SCN1A	PIK3CA	SPATA5	AKT3	CHD2	CUX2	GABRB3
HP_EEG_WITH_FOCAL_SHARP_WAVES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_FOCAL_SHARP_WAVES	PDHA1	SYT1	CACNA1A	LONP1	SRPX2	PRRT2	TBC1D24	ATP1A2	PSAT1	GRIN2A	SCN1A
HP_EEG_WITH_FOCAL_SPIKE_WAVES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_FOCAL_SPIKE_WAVES	GRIN2A	SYNGAP1	SLC6A1	GABRG2	TBC1D24	DAG1	FRRS1L	SLC2A1	CHD2	SATB1	SRPX2	SCN1A	IQSEC2	NEXMIF	AP2M1	CPLX1
HP_EEG_WITH_GENERALIZED_SHARP_SLOW_WAVES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_GENERALIZED_SHARP_SLOW_WAVES	PDHA1	CACNA1A	LONP1	PRRT2	ATP1A2	PLPBP	ALDH7A1	SLC13A5	ALDH4A1	PIGT	SCN1A
HP_EEG_WITH_ABNORMALLY_SLOW_FREQUENCIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_ABNORMALLY_SLOW_FREQUENCIES	WWOX	ARV1	MECP2	TREM2	CYFIP2	PLPBP	PSEN1	SYNGAP1	SLC13A5	PLP1	CDKL5	TMEM106B	GRN	RNF13	FGF12	DNM1	ATP1A2	GABRA5	CELF2	CACNA1A	SLC1A2	KCNB1	SLC6A1	HCN1	EEF1A2	CHMP2B	VCP	SCN3A	SLC2A1	CHD2	KCNA2	AARS1	SCN1A	SYNJ1	NTRK2	FGF13	CYP27A1	CLN5	SZT2	AP2M1	MAPT	CNKSR2	PPP3CA	PARS2	OCA2	C9orf72	UBA5	LMNB1	CLN8	NECAP1	ATP6V1A	CLTC	PIGY	NUS1	CACNA1B	GABRA2	ACTL6B	GRIN2A	TRAK1	DHDDS	UBE3A	GABRG2	SQSTM1	SCN8A	KPTN	GABRB2	ALDH7A1	GRIN2D	LRPPRC	ATP1A3	CDK19	YWHAG	DPAGT1	DOLK	NEXMIF	CNTNAP2	AP3B2	DALRD3	P4HTM
HP_EEG_WITH_CONTINUOUS_SLOW_ACTIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_CONTINUOUS_SLOW_ACTIVITY	TMEM106B	C9orf72	TREM2	CHMP2B	VCP	PSEN1	GRN	MAPT	SQSTM1
HP_ABNORMAL_SHAPE_OF_THE_OCCIPUT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SHAPE_OF_THE_OCCIPUT	ADSL	HRAS	MOGS	PEX1	CHUK	GDF11	ALX4	ZIC1	IFT122	FLNB	ERF	HK1	CYP27B1	DPM1	SNRPN	CDKN1C	EHMT1	PEX11B	KRAS	MCTP2	INPPL1	FIG4	TBC1D24	PEX3	MAN2B1	KCNQ1OT1	UBE3A	IGF2	PEX10	CYP2R1	PEX13	RPS23	SOX6	TOR1A	SATB2	PEX5	KATNB1	KAT6B	RIPPLY2	CNOT3	PEX26	OCA2	MAN1B1	AMER1	KIF7	CTSK	MYCN	SLC35A1	MESP2	PLAGL1	ITCH	NOTCH2	VDR	TMEM70	TBX6	TWIST1	ATP7A	CNOT1	DLL3	B3GALT6	UBE3B	PEX14	CCDC22	RALGAPA1	SLC34A3	NRAS	TFAP2B	KIF11	GLI3	WDR73	SMG9	PEX2	WASHC5	PEX6	HES7	OCRL	PEX19	IFT52	LFNG	TUBB3	SETD1B	RELN	KCNQ1	PEX12	HYMAI	IFT81	FLNA	PIGA	MED12	LEMD3	WDR35	TAF1	WDR19	PIGN	PPP1R21	RNU4ATAC	OTUD6B	PTCH1	SH3PXD2B	METTL23	PEX16	NDE1	ATP6V1B2	IFT43
HP_ABNORMAL_SHAPE_OF_THE_FRONTAL_REGION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SHAPE_OF_THE_FRONTAL_REGION	RERE	CHD3	OFD1	UNC80	ALX4	CDKN1C	RAD51	MSX2	SMG8	PDHA1	SALL4	HK1	CKAP2L	HBB	KIDINS220	PREPL	TCIRG1	FGFR3	TBCD	FANCC	PLA2G6	EBP	SPRTN	ROR2	ERF	KDM1A	FBN2	ALDH18A1	CDH2	HDAC4	FAM149B1	PAK1	NELFA	RUNX2	TGFB1	POLR1C	AMER1	AIP	FANCF	SATB2	ERCC4	TTC26	ATAD3A	INTU	FANCD2	COX5A	MMP2	LIFR	LETM1	FH	CTBP1	DDX59	FZD2	DSE	WDR19	CTSK	RSPRY1	LRP5	DDR2	PTEN	OBSL1	MADD	TOGARAM1	FANCL	ADK	SLC26A2	SPTA1	MITF	PTCH2	DVL3	TBX4	CHD1	CHST3	PLAG1	DICER1	EDA	GMNN	NALCN	NAA10	NRAS	SOX2	NLRP3	GLI3	STAT3	EFNB1	CPLX1	WDR35	CRPPA	HNRNPU	POLR1D	BUB1B	MAD2L2	TWIST1	MED13L	FANCA	SKI	TBCE	CLCN3	SLC3A1	TCF12	TONSL	KNSTRN	DDX6	TCF20	SMOC1	DYNC2I1	NFKBIA	IKBKG	D2HGDH	EDARADD	TOPORS	FUCA1	MED12	FLNA	IFT140	SOX5	POR	PPM1B	PDE4D	HDAC6	PRDM16	IFT43	CSPP1	ARID1B	MTOR	NXN	SUFU	KATNIP	ALDH6A1	COL1A2	CREBBP	TRIP11	CEP57	FANCB	MAGEL2	ZEB2	DVL1	ALG9	FANCI	PRMT7	HBA1	ATP6V1B2	SPEN	PIK3R2	FGFR2	LEMD3	KYNU	MAN2B1	RECQL4	LBR	GYPC	SIK3	BICRA	KIAA0753	PAM16	HMGA2	KCNJ1	NSD1	PIK3R1	CSGALNACT1	NTNG2	RAI1	SON	EPB41L1	PHEX	CYP2R1	ITCH	NONO	RAD51C	FANCE	MBTPS2	TCOF1	KIF7	FLNB	DLX3	BMPR1A	FLI1	COL11A1	FLII	GNE	SLC34A3	EMC10	PIGL	RAB39B	DEAF1	WNT5A	PPP1CB	PTCH1	PIK3CD	FGFR1	CCDC8	DHCR24	SMARCA2	BUB1	MED27	TRPS1	TRIP13	GJA5	EP300	ANKRD11	B3GLCT	GRIN1	PYCR1	ACOX1	DLK1	BRCA2	XRCC2	DYNC2H1	PURA	PEX5	AGO2	RPS6KA3	COX4I1	YWHAE	BRCA1	LRP4	NFIX	COL1A1	GATAD2B	PIGG	SUPT16H	KRAS	IFT122	INPPL1	TBC1D24	APC	NPR2	MEGF8	CAMKMT	GLB1	IGF2	ANTXR1	HSD17B4	MAN1B1	TMEM216	PEX7	PIGN	PRKCZ	SPOP	UGP2	SIX6	ZNF148	IDUA	UBE4B	NSD2	KAT6A	VDR	COG4	SEC24D	BRWD3	MPDZ	ARID2	BRAF	ORC1	CRIPT	CHRNA7	PALB2	KCNAB2	TBX15	CBL	FBN1	POU1F1	WASHC5	FANCG	OCRL	VANGL2	GPC6	MMP23B	POLR3A	KPTN	SLC39A13	SPTB	CUL7	CPLANE1	SETBP1	SOST	PDPN	CLCN7	GNB2	STAG2	ZIC1	HERC1	PTDSS1	BUB3	LARS1	PAFAH1B1	TRIM37	AP1G1	GJA8	SMC3	HRAS	RTL1	FANCM	ALPL	HSPG2	B3GALT6	SNX10	ALX1	SIX2	GNS	GK	CYP27B1	SPECC1L	PIK3CA	KIAA0586	POLE	MAP2K1	BRIP1	PTHLH	FMR1	NCAPG2	ACP5	PPP2R5D	DYNC2I2	B3GAT3	SLX4	RNPC3	P4HB	HBA2	OPHN1	MEG3	CASZ1	NEU1	POLR1B	MIR140	MTHFR	SNX14	GPR101	MEN1	HOXD13	TCTN3	CCDC22	SEC23A	PCGF2	MTX2	PDE6D	UBE2T	DENND5A	LUZP1	IFT52	C12orf57	MBD5	INTS1	MAP2K2	MOCS2	MID1	ATP6V0A2	B9D2	IPO8	CTNS	GJA1	EDAR	SMARCD1	TTC37	RFWD3	GABRD	ATIC	IFT80	EIF5A	IQSEC2	ACAN	MOCS1	EXTL3	EDA2R	BGN	TRIO	CWC27	EPB41
HP_SHORT_FACE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_FACE	EDA	MSX1	EDARADD	POLR1B	WNT10A	GRHL3	UBB	LRP6	RUNX2	POLR1C	TGFA	POLR1D	SUMO1	IRF6	WNT10B	TCOF1	FGFR1	PAX9	AXIN2
HP_PROMINENT_FOREHEAD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_FOREHEAD	KDM6B	FAM50A	ELN	FAM111A	CHD3	NTNG2	ZMIZ1	ALDH18A1	RALA	VPS35L	NALCN	FLNB	TRMT1	ZBTB18	CDKL5	SKIV2L	DLK1	ATIC	BRAF	MTOR	INPP5E	KDM4B	CKAP2L	CDC42	KIDINS220	SMOC1	SUMF1	PITX2	PLA2G6	PSMD12	LARP7	MED13	DOCK3	CHD2	RYR1	SPECC1L	KDM1A	NPR2	PLAG1	CDH2	MED27	VPS33A	CLCN3	IGF2	GNE	AP2M1	SATB2	PUF60	PROP1	RPS6KA3	AMER1	PRMT7	SRCAP	EBF3	COL2A1	GPAA1	OBSL1	ACTL6B	ABCC9	NFIX	TNRC6B	EMC10	ARNT2	FOXP1	DPYSL5	BRWD3	NSD1	CDKN1C	LRP4	PURA	TANC2	EDAR	ADNP	CHST3	GLE1	MID1	PTPN23	MAB21L2	LRPPRC	TRIP12	WAC	STAT3	CA2	FZD2	USP9X	DDX6	SNX14	LHX4	LHX3	BCAS3	MEG3	SETD2	EP300	SHOC2	MADD	MAPK8IP3	EFEMP2	KCNMA1	PALS1	MED13L	NANS	FLNA	SMG9	COG4	POU1F1	SKI	TBCE	B3GALT6	SYNGAP1	TTC7A	TRAF6	SLC2A1	SP7	FBXW11	WDFY3	ACTL6A	KIAA0753	ADAT3	PDGFRB	BPTF	UBR7	PMM2	TCF20	D2HGDH	NRAS	TTC37	HERC1	FUCA1	UPF3B	IFT81	MED12	IFT140	H19	GJB2	SCYL2	RTL1	TONSL	ZSWIM6	RAF1	BCORL1	RLIM	PTDSS1	COL27A1	PEPD	SUZ12	ERF	FOXC1	EDARADD	CCDC32	AP1G1	DVL1	NEXMIF	MYT1L	HS2ST1	ANKRD17	ZPR1	FBN1	PKDCC	MYH3	APC2	MBTPS1	GNS	KMT2E	PRKD1	SATB1	TRRAP	DPYD	ASXL1	DPH1	SLC6A1	SLC12A2	IARS2	FARSB	LBR	PPP2R5D	HTT	TRIP11	HECW2	B3GAT3	CPT2	CNOT3	CREBBP	EXT2	PAM16	GRIA4	HMGA2	KCNJ1	DVL3	HPDL	PIK3R1	IL2RA	OPHN1	FMR1	SON	MAN2B1	FAM149B1	KPTN	KDF1	ERMARD	RMRP	LMBRD2	ITGA3	HRAS	TCF7L2	KIF7	P4HTM	PUS7	SVBP	SYNCRIP	PIGL	POC1A	HESX1	WNT5A	UNC80	KIF11	PPP1CB	TAPT1	AGO2	FBLN5	PTH1R	DHCR24	ZNF292	ASXL3	SCN1A	RNF2	WASF1	ARX	DYNC1H1	NTNG1	SPTBN1	B3GLCT	NAA10	AP1S2	SETBP1	PYCR1	ZNF711	STAT5B	HUWE1	CASK	TAF1	PRKDC	KAT8	CEP57	SETD1A	MN1	CCND2	PEX5	SH3PXD2B	TRAPPC4	GJB6	DPF2	IGF1	GPC4	JARID2	PIGK	SERPINH1
HP_APLASIA_HYPOPLASIA_OF_THE_EYELID	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_EYELID	PHGDH	TWIST2	FLI1	CCNQ	DHODH	RNASEH2B	ALX1	POLR1C	RIPK4	FGFR1	FREM2	ADAR	POLR1D	TCOF1	EDNRA	FRAS1	TXNL4A	POLR1B	SF3B4	CHD7	TWIST1	KCTD1	SEMA3E	EIF5A	GRIP1	ESCO2	CDH11	FREM1	KRAS	RNASEH2A	TREX1	RNASEH2C	SLC25A24	IFIH1	ADNP	ZPR1	SAMHD1
HP_HORIZONTAL_EYEBROW	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HORIZONTAL_EYEBROW	PDPN	PRKCZ	HSPG2	RALGAPA1	RALA	SPEN	MED13L	PRDM16	RERE	CDK19	GNB2	GABRD	SKI	KCNAB2	EBF3	UBE4B	ADAM17	DEAF1	EGFR	CASZ1	LUZP1	TRAPPC9	FOXP2	SYT1	INTS1	CNOT2	KCNK4	DDB1	MMP23B
HP_BROAD_EYEBROW	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_EYEBROW	SON	RERE	NEPRO	EIF5A	HERC1	BPTF	TRMT1	MAPK1	ZEB2	MAN1B1	SPTBN1	SIN3A	CHD1	POLA1	MAF	SPATA5	SLC35C1	DDB1	POLR3A	PYCR2
HP_PROMINENT_EYELASHES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_EYELASHES	RNU4ATAC	KMT2D	SOX11	LMNB1	SOX4	ARID1A	SMARCE1	SMARCB1	ARID2	ARID1B	KDM6A	DPF2	SMARCD1	SMARCC2	SMARCA4
HP_MICROTIA_THIRD_DEGREE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROTIA_THIRD_DEGREE	ORC1	FANCB	GMNN	CDC45	TCTN3	CDT1	TWIST2	ORC6	ORC4	CDC6
HP_UNDERDEVELOPED_TRAGUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNDERDEVELOPED_TRAGUS	KCTD1	EFTUD2	NUP188	GLI2	KAT6A
HP_ANISOCYTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANISOCYTOSIS	CDIN1	RHAG	RPS14	CDAN1	PKLR	GLRX5	UROS	NHLRC2	GATA1	KIF23	TRNT1	HBB	RHD	RHCE	UMPS	CASK	TMPRSS6	G6PD
HP_RECURRENT_MYCOBACTERIAL_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_MYCOBACTERIAL_INFECTIONS	HYDIN	ZMYND10	DRC1	IFNGR2	DNAI1	CCDC40	RSPH3	MCIDAS	IL12RB1	DNAH5	DCLRE1C	STK36	GAS2L2	CCDC103	DNAAF11	CFAP300	DNAAF2	SPAG1	ODAD1	DNAL1	IFNGR1	TTC12	CCDC39	CCNO	RSPH9	ODAD2	CYBB	TYK2	CFAP298	DNAAF1	FOXJ1	ISG15	NEK10	DNAAF4	ODAD3	ZAP70	ODAD4	DNAAF5	LRRC56	GAS8	RPGR	RSPH4A	RSPH1	DNAAF3	DNAH9	CCDC65	DNAJB13	OFD1	DNAH11	STAT1	GATA2	NME8	DNAI2	CFAP221	SPEF2	DNAH1	DNAAF6
HP_VASCULAR_SKIN_ABNORMALITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VASCULAR_SKIN_ABNORMALITY	WNT10A	TNPO3	FASLG	TGFB3	IRF5	CTLA4	DKC1	TGFBR1	COMT	WAS	CTSA	XPNPEP2	EOGT	KIT	MAT2A	POLA1	GBA	NLRP3	MT-CYB	TRPV3	SLURP1	AGA	PCNA	ERCC3	TERC	LARP7	IFNG	PDE8B	KRIT1	KDSR	MYH11	KRT5	SCN9A	DOCK6	ALDH18A1	SOS1	MYH9	TCF4	PIGW	RHOH	HCCS	CYLD	GATA1	ALOXE3	NBEAL2	MYORG	ODC1	GJB4	MT-TH	MT-ATP6	ATRX	CDSN	ARHGAP31	ZMPSTE24	SLC2A10	DSP	ATR	CD28	GJA1	ERCC5	IL12A	CTC1	SLC39A13	CASP10	USP8	PTEN	MT-CO1	SLC29A3	CCN2	NABP1	ADA2	NFIX	MT-ND4L	COL1A2	RASA1	TGFBR2	NLRC4	MT-ND1	TREX1	LMNA	NTRK1	TRPM4	COL5A2	RNASEH2C	SMAD3	ERCC2	LMAN1	ATP7A	IFIH1	F8	SLC20A2	F12	HOXA11	SMC3	CAVIN1	SLC25A24	PDGFB	SDHD	HPGD	SOX18	MVK	ABCC6	FANCC	IL12RB1	MT-ND6	ANKRD26	GDF2	STAT3	CDH23	AEBP1	SDHC	ATP6V1A	MT-TF	COG4	SLC35A1	SULT2B1	PRKACG	SMC1A	HLA-DPA1	TNXB	CAV1	LYST	TGFB2	ACVRL1	ABL1	MBTPS2	JAK2	LCP2	RTEL1	PLEC	NIPBL	MT-ND5	FLT4	HPS5	PRKACA	FUCA1	MRE11	POLD1	ARMC5	MT-CO2	PRDM16	DIAPH1	NAGA	PRKAR1A	ARID1B	CTNNB1	FLNA	CTSB	VPS53	CD109	MT-TL1	SDHB	SCN10A	GP9	AKT1	FZD4	RPS6KA3	FKBP14	ARL6IP6	ZNF408	GATA2	FTO	GP1BA	USF3	POU2AF1	HBA1	MYD88	C2	COL3A1	IKBKG	C4A	SCARB2	PDGFRB	COL5A1	ETHE1	PLOD1	ENG	AGXT	PROC	BCOR	RAD21	PLG	RERE	ADAR	NDUFS2	ELN	ITGA2B	DDR2	DLL4	FAS	ENPP1	USB1	TBX1	FERMT1	EGFR	IL17RA	F5	ACTA2	DNASE1L3	CCR6	TET2	LIG4	STIM1	HPS4	SERPINE1	LRP5	PRKG1	COL1A1	TNFRSF1A	PML	SIK3	SLC27A4	FERMT3	BRD4	SLC39A4	MS4A1	CALR	RNF113A	SERPINF2	PIGL	CR2	FANCD2	SPIB	HFE	PGAP2	RUNX1	CLCN7	PROS1	ICOS	C1S	VWF	PDCD10	BLM	USP18	ELOVL4	PLCG2	KRT14	KLLN	ANAPC1	CPN1	ZNF469	LRP1	HS3ST6	FOXP3	GNA14	TFR2	SPINK5	STX11	DTNBP1	SNX10	BMP2	TERT	TSPAN12	EPHB4	PLOD3	MT-CO3	AKT3	SMAD4	TNFRSF1B	NLRP12	ADAM17	SRSF2	PRTN3	SMAD2	GGCX	CBS	ATP2C1	XPA	PEPD	HLA-DPB1	F13A1	NFIA	ALDH3A2	MYLK	ANTXR2	COX7B	PIK3CA	BSCL2	PYCR1	UNC13D	SETX	NPM1	COG8	FIP1L1	HLA-DRB1	GUCY1A1	ATP6V0A2	PRDM5	DAXX	C1R	HEY2	PRKCD	NDUFB11	GLA	CDKN1B	ANGPT1	MT-ND4	GP1BB	RNASEH2A	DNAJC30	ASXL1	RIN2	EPHB2	PORCN	PRF1	GNPTAB	SUPT16H	TGM1	LBR	MPL	ADGRE2	HDAC8	STING1	KRAS	ERCC6	BRAF	CSTA	XRCC4	CD19	FRG1	KCNQ2	CFHR1	TBXA2R	CLEC7A	TNFRSF13B	FYB1	GNAQ	GSN	RAC2	MMEL1	PSMB8	GFI1B	F13B	SLC51A	TALDO1	MT-TW	TMC8	PGM3	ALOX12B	PRKCZ	TGM5	STAT5B	RAB27A	FCGR2C	PSMG2	IL7	STN1	DDB2	UBE4B	IL17RC	ANTXR1	LMX1B	WRN	ARVCF	MCFD2	PPARG	TNFSF12	F2	IL17F	MYOF	UFD1	RNF213	HPS6	FANCE	FANCA	PIGT	MFAP5	CD81	LORICRIN	RNASEH2B	P2RY12	LIPN	SLC37A4	HIRA	SERPING1	BMPR2	NFKB1	KCNAB2	SAMD9	AGPAT2	PIGV	HPS1	KRT10	GJB3	XPR1	GP6	ITGB3	MEFV	DSE	XPC	PPP1R15B	ERCC4	MMP23B	AIP	HLA-B	POLR3A	APOE	NF1	BLOC1S3	TNFSF11	FECH	PDPN	DPM1	NOTCH1	STXBP1	NSUN2	F7	GNB2	GNAS	SEC24C	PTDSS1	MAPK1	KRT1	PEX6	NHP2	TRAF3IP2	TMC6	NSDHL	PARN	MASP1	CFH	ZBTB16	COL7A1	CARMIL2	GIMAP5	PTPN22	SAMHD1	FBN1	UVSSA	ARX	SEC23B	HSPG2	DHCR7	LOX	B3GALT6	ALPK1	SPEN	SREBF1	STAG1	AP1S1	NFKB2	IKZF1	RARA	CCM2	BLOC1S5	AQP5	RASGRP1	RECQL4	ACP5	SEMA4D	SBDS	KRT2	MT-TS2	OCLN	PGAP3	SCN11A	MT-ND2	HBA2	ATM	NEU1	CHST14	CASZ1	ADAMTS2	SLFN14	WIPF1	RNF168	POLE	GLB1	KRT83	ELMO2	ITGA3	CFHR3	F10	SYK	JMJD1C	PDE11A	NUMA1	FOS	CBL	NDP	ATP7B	NOP10	POLH	PIGO	NOD2	PTPN11	ETV6	TCIRG1	GPR35	TNFRSF13C	GLUL	MAP2K1	ATP6V1E1	LUZP1	KIAA0319L	BANF1	MST1	TBL1XR1	KNG1	IL36RN	FOXE3	TNFSF15	STXBP2	IPO8	HLA-DQB1	DSG4	IRF2BP2	CIB1	ORAI1	SF3B4	ITGA2	TINF2	GABRD	SKI	WRAP53	PIGY	SH2B3	LEMD2	RREB1	DDX11	RBPJ	JAM2	MTAP	PLAU	MT-TQ	PDSS1	HPS3	PERP	MANBA
HP_ABNORMALITY_OF_THE_URINARY_SYSTEM_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_URINARY_SYSTEM_PHYSIOLOGY	PRODH	TP53	NPHS1	IL12A-AS1	ELN	OFD1	IL12A	UMOD	WAS	GNA11	ARG1	GSN	LZTFL1	FCGR2A	CDKN2B	PDX1	SUGCT	GATA6	OPA3	TXNRD2	AGA	INF2	FAH	MNX1	HRAS	F2	GATA3	SUMF1	L2HGDH	FANCC	CTNS	SLC25A4	HOGA1	PNP	TRPC6	CYP21A2	EIF4H	IFT140	TOP2A	UNC45A	MICOS13	FANCF	MTHFR	ERCC4	SUCLA2	TTC26	FANCD2	C1QBP	LRP2	FBLN5	FH	GCK	ERAP1	KRAS	NPHP1	HELLPAR	SCNN1A	UMPS	PAX2	PTPRO	WDR19	WDR4	HSD3B2	ALOXE3	BBS5	GCM2	TBC1D8B	RAD51C	DLST	ASL	HAL	PYGL	PEX7	C1QA	PHKB	DMP1	MT-CO1	CCN2	CEP290	WT1	MARS1	CEP19	DIS3L2	MT-ND1	PCCB	CRKL	SHPK	ATP6V0A4	TREX1	LTBP1	NDUFAF3	STAT4	SERAC1	ACADS	GLYCTK	F8	RNU7-1	SMC3	PYGM	BBS7	PNPLA6	TIMM50	MTR	VHL	TAT	SLC36A2	TSC1	SLC5A1	CLCN5	DBT	TPRKB	PHYH	PUS3	COL4A1	SMARCAL1	CASR	NEUROD1	NDUFS8	DNAJB11	COL4A3	EHHADH	MAD2L2	SDHD	FANCA	MT-TF	OXCT1	SPTBN1	JAK1	KNSTRN	KARS1	YAP1	ABCC6	LAMB3	SGSH	MSN	ALMS1	SLC34A3	NUP37	PDP1	SERPINA1	MMACHC	MTRR	NDUFB10	NIPBL	D2HGDH	RMND1	ITPR3	FUCA1	UROS	KHK	AMT	BLK	ITGB4	IFT43	PLCE1	JAG1	CSPP1	PLOD2	CD109	MT-TL1	TIMMDC1	METTL27	KYNU	PGK1	CLCNKA	NPHP3	STS	NOS3	FIG4	DCDC2	CPT2	PKD1	GATM	DHDDS	PKHD1	PKDCC	GAPVD1	PTPN22	PBX1	GANAB	ETHE1	IDS	MT-TT	MYL9	ENPP1	RAD21	APC	CHRM3	COX14	TRIM32	AUH	SLC12A1	ZFPM2	NLRP3	GALNS	NR0B1	REST	NDUFAF4	GNAS	H19	ITGA2B	SDHAF2	GBA	CD46	AP2S1	IL17RA	F5	COL4A6	NGLY1	GALE	FARSB	CDC73	FGF23	ATAD3A	HNF1B	SLC52A2	PDSS2	SLC6A20	CORIN	TCN2	SLC5A2	CYP24A1	TTR	APRT	NDUFS7	FKBP6	INVS	MAPKBP1	CLPB	PIGB	BRD4	CREBBP	FLT1	IL2RB	SDHB	DYNC2H1	PEX5	MT-TK	RET	MKKS	TSC2	RYR1	ERCC6	FAM20A	COL4A4	HADH	HMGA2	WWOX	FKRP	CLCNKB	BUD23	TRIP13	NFS1	PMM2	MYOCD	HMBS	FANCE	DNAJC30	SLC34A1	STX11	HSD11B2	CYP11A1	BRCA2	FAS	SAA1	SCNN1G	CCND1	VPS37D	AASS	GUSB	CD320	INS	EP300	C4A	SDCCAG8	HPRT1	SLC25A21	AVPR2	CR2	CBS	SCARB2	LDHA	NNT	OSGEP	MMAB	PIGT	ERCC8	CACNA1S	SCNN1B	EIF2AK3	MT-TE	SALL1	GON7	LIPN	MT-ND6	TMEM138	APOA1	TMEM260	LMX1B	ZNFX1	KIF1B	GLUD1	PIGA	FIP1L1	B2M	ATP1A1	ARHGAP24	YWHAE	HLA-B	LCAT	AHI1	XRCC2	TMEM127	LIG4	THOC6	CLDN10	STX16	IFT172	KCNE5	GLA	ETFA	TMEM67	AGGF1	SLITRK6	ADCY10	FARS2	MVK	BRCA1	ACP5	HLA-DRB1	SLC16A12	PRF1	TNFRSF11A	GLIS2	CEL	OCRL	POLR3GL	CASK	IQCB1	AKR1D1	NF1	GABRA3	HPD	NDUFB3	YRDC	SLC25A13	HDAC8	ALDH18A1	BSND	ABCC2	ABCA12	ABCC8	ETFDH	STAT3	INPP5E	PRKCD	G6PC1	PET117	PRPS1	SLC22A12	SCO2	CEP164	FOXRED1	CLEC7A	MAX	DDOST	IRF5	POLG	LAMA3	HNF4A	PAX4	ISL1	SLC4A4	MMADHC	HGD	GLB1	HSPA9	CC2D2A	NAGA	CEP120	MT-TW	NUP85	PSTPIP1	ACAD8	SLC7A9	TMEM216	TBC1D24	SUCLG1	ALDOB	GALNT3	PCK1	SLC26A1	COX16	CDK4	IDUA	SLC25A20	MYCN	NUP107	MAFB	CUBN	CFI	MYO1E	NEXMIF	CPS1	NDUFAF2	OPLAH	CLDN19	IRAK1	ALPL	KRT8	C3	MAGI2	MCCC2	EN1	HMGCL	UBAC2	ITGA6	NUP133	TMEM70	VANGL1	MAGED2	XPA	SLC12A3	SLC37A4	STX3	PALB2	CYP11B2	MME	IVD	INPPL1	HACE1	VIPAS39	ALAD	XPNPEP3	HPS1	ANKS6	SLC6A18	COG1	FANCG	MKS1	STOX1	LMNB2	IL1B	APOL1	NPHS2	MDH2	MT-CO3	ALDH4A1	TK2	FAN1	TTC21B	SLC1A1	KCNJ10	PHKA2	XYLT2	SHANK3	TP53RK	ALK	CCR1	HGSNAT	GP1BB	NDUFB8	LAMB2	TMEM126B	SLC30A9	COQ2	BCKDHB	TNFRSF11B	ELP1	ATP11C	ERBB2	MAPK1	ADA	HNF1A	ZNF592	BCS1L	SIX5	TRAF3IP2	SRY	XPC	CFH	ZBTB16	APC2	CPOX	DPYD	ARHGDIA	KCNJ5	PCCA	DHTKD1	CTH	REN	NDUFS3	ACAD9	CDKN1C	PKD2	RFXAP	DCLRE1C	DDB2	APOE	NDUFB11	KIAA0586	ZNF423	INSR	FOXC2	SNAP29	DZIP1L	FCGR2B	MAP3K1	KCNJ16	COA8	PC	CEP83	MT-TS2	NR5A1	NDUFS4	OCLN	ALDOA	NUP93	FGFR2	CRB2	SLX4	BICC1	NOS1AP	LRIG2	GDF2	MEFV	DGUOK	CHD7	GSS	CDKN1B	MUTYH	MPC1	BAZ1B	FTCD	SDHC	SLC19A2	ACSF3	MAN2B1	LHX1	HTRA2	SLC4A1	SCAPER	MIR140	CD59	WIPF1	TRAF3IP1	AQP2	MT-ND5	MRAP	BBS10	RMRP	MT-TV	MT-ATP6	STK11	SNX14	CFHR3	F10	CASP10	COQ8B	CNNM2	SEC61A1	DYNC2LI1	NUMA1	DMRT3	BTD	RPGRIP1L	CFB	PLVAP	FMO3	UBE2T	NBN	NOD2	MMUT	GPR35	BBIP1	SPRY2	TAOK1	RPIA	HOXA13	ERCC3	BBS2	CHST14	IDH2	MT-ND4	LPIN1	NDUFA11	C1QB	GEMIN4	WDPCP	TBL1XR1	SLC35A2	TANGO2	MOCS2	TTC8	SLC35C1	HLCS	STXBP2	TMEM231	SOCS1	TGM1	ACTN4	SLC25A15	CD151	WDR73	COL2A1	NDUFV2	NDUFA6	TTC37	ITGA2	RFWD3	SON	SDHA	CA2	ERCC2	ENG	MC2R	ISCU	CDKN2C	SLC7A7	CLIP2	SERPINF2	MOCS1	GTF2IRD1	NUBPL	SIX1	BTK	CIITA	HSD17B10	FASLG	IL7R	KLF11	TMEM237	SLC6A19	BNC2	RAD51	RAG2	LPIN2	KANSL1	AMMECR1	MT-ND3	PREPL	G6PD	NDUFV1	GTF2I	CTLA4	NCF1	SLC25A11	COPA	BCKDHA	PEX19	TCF4	MED12	CDKN1A	ACAT1	WFS1	AGT	ALG1	SLCO1B1	PGAM2	IGKC	RAG1	IFT27	DCXR	TAFAZZIN	GALK1	MT-TH	SPP1	KANK2	DNMT3A	MDM2	MCCC1	NDUFS6	ALG9	DNAJC19	IFT74	NDUFAF1	NABP1	ADA2	NEU1	RASA1	PAFAH1B1	FANCL	NTRK1	NT5C3A	NDUFS1	LMAN1	PAH	THBD	GCLC	PHKG2	NADK2	AGK	DAAM2	CHD4	PHOX2B	LIN28B	TRIM28	NAGLU	EMP2	DLD	OGDH	SGPL1	WDR35	TRPV6	SREBF1	ACADVL	BCL7B	GCDH	SLC3A1	TNXB	TRNT1	CHUK	KCNJ18	CA5A	HLA-DPA1	NDUFS2	ACVRL1	EYA1	NPHP4	PAX6	MYH11	SLC17A5	UQCC2	PPM1B	SUOX	MT-CO2	STAT1	CAV1	KCTD1	ATP7B	GP9	NUP205	FANCB	SLCO1B3	FANCI	STAR	SMC1A	ATP6V1B2	MYD88	NUP160	GCSH	DNASE1L3	EPG5	TGFB1	AGXT	EFEMP2	CCNQ	ACADM	HADHB	VPS33B	BCOR	VAMP7	CISD2	HBB	CD2AP	DYNC2I1	PLG	MYH9	SLC41A1	EHMT1	SLC46A1	TLR4	FBP1	RFC2	CCR6	SMARCA2	LDHD	PML	PRDX1	KRT18	SLC2A2	LYZ	KCNJ1	ERCC5	KCNJ2	POU6F2	CRPPA	CPT1A	PIK3CA	SDR9C7	ETFB	GRHPR	PHEX	IGHG2	BLM	AGTR1	FOXP3	TRAIP	CFTR	CLTRN	PCBD1	CYBC1	UROD	CFHR5	IFNGR1	SLC26A4	SLCO2A1	LAGE3	TBX18	RRM2B	MEN1	ATRX	FLAD1	FN1	MMAA	DGKE	ZAP70	PRTN3	SOX18	PIK3CD	COG6	KCNJ11	CYP4F22	PEX1	CYP11B1	CFAP418	SLC2A9	AVIL	PHKA1	FUZ	PEPD	HLA-DPB1	NSMCE2	ARSB	UNC13D	SATB1	NPM1	ACE	IL23R	TRPS1	WASF1	AMN	OTC	SARDH	C1QC	FGA	ADAMTS13	PPOX	CAD	KAT5	MLXIPL	NDUFA1	NDUFB9	PLOD1	ABCD4	NDUFAF5	TRIM8	RFXANK	PFKM	TKT	MCEE	SOX9	SGCB	CFHR1	SURF1	BTNL2	LIMK1	XYLT1	CAMKMT	VPS33A	GNPTAB	HADHA	VAC14	PGM3	UROC1	BBS9	IER3IP1	KIRREL1	STAT5B	CHRNA3	NRAS	MOCOS	IL17RC	SLC35A1	MCFD2	ATP5F1E	NDUFAF8	LMO1	IL17F	SH2B1	IDH1	MINPP1	HPSE2	SMAD4	NSD1	KLF6	ZNF699	MT-ND2	MRPS2	CD81	GAA	NIPAL4	SARS2	NOTCH2	PRKAR1A	SETD2	ANLN	SAMD9	ACSL4	LAMC2	EGF	SLC25A1	ALOX12B	TP63	ATP6V1B1	ITGB3	DMGDH	MIA3	EXT1	P4HA2	ANO5	SLC34A2	APPL1	DACT1	GNAS-AS1	ASS1	TBL2	YY1AP1	MUC1	CYB561	GLDC	SLC16A1	MAF	FANCM	ADNP	IL1RN	GNS	BLVRA	GK	BBS12	CYP27B1	FBXL4	DYRK1A	GPHN	HCFC1	SLC9A3R1	IKZF1	GATA4	IL2RG	RARA	LMBRD1	TMEM270	BRIP1	BBS4	RASGRP1	BBS1	IL10	SEMA4D	CYP2R1	RFX5	DSTYK	GUCY2D	PET100	SCO1	STAT2	PIK3C2A	GYS2	NDUFAF6	STX1A	GPC3	GP1BA	SRCAP	FXYD2	SLC52A1	MMP1	COL3A1	COL4A5	HMOX1	COL7A1	ITGA8	ARL3	HIC1	IRF1	ITGA3	PIEZO1	MT-TN	IFT122	BCR	GTF2IRD2	CLDN16	MTX2	SLC25A19	FLVCR1	ARL6	GALT	OAT	DMD	NEK8	XDH	DNASE1	MST1	ATP7A	LMNA	SULT2B1	DBH	DYNC2I2	KLRC4	POLR3A	IRF2BP2	LMNB1	FOXI1	SPINK5	GATA1	DHX37	ASPA	IFT80	LEMD3	MYO5B	COQ6	IFIH1	ALDH5A1	HFE	PTH1R	IL6	ATP5F1D	ANKFY1	EPAS1	HIBCH	ATPAF2	MT-TQ	MLYCD	MANBA
HP_ABNORMALITY_OF_URINE_CALCIUM_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_URINE_CALCIUM_CONCENTRATION	TGFB1	CDC73	MLXIPL	GNA11	SLC34A1	FCGR2A	KCNJ5	CDKN2B	SLC12A1	CDKN1C	CASR	ELN	INSR	TMEM270	GTF2I	NCF1	AP2S1	SLC22A12	RFC2	BTNL2	LIMK1	EIF4H	FGF23	HNF1B	CDKN1A	CLCN5	PIK3C2A	CYP24A1	FKBP6	GCM2	STX1A	KCNJ1	FXYD2	CDKN1B	BAZ1B	ADCY10	OCRL	CLCNKB	PHEX	FAM20A	ALPL	BUD23	ATP6V0A4	DNAJC30	KCNJ10	CFTR	PIGT	GTF2IRD2	CLDN16	MAGED2	SLC34A3	VPS37D	MEN1	EHHADH	BCL7B	SLC2A2	SLC2A9	BSND	PTH1R	ATP7B	NDUFAF6	SLC12A3	METTL27	CLDN10	CDKN2C	TBL2	CLIP2	CLDN19	GTF2IRD1	HLA-DRB1	AMMECR1	CLCNKA	GATM
HP_ABNORMALITY_OF_URINE_CATECHOLAMINE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_URINE_CATECHOLAMINE_LEVEL	NF1	SDHB	PHOX2B	LIN28B	VHL	KIF1B	RET	ALK	SDHD	DNMT3A	SDHA	MYCN	DLST	HACE1	TMEM127	SDHC	SDHAF2	EPAS1	SLC25A11	LMO1	MAX	FH	DBH	TOP2A	MDH2
HP_ABNORMALITY_OF_HINDBRAIN_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_HINDBRAIN_MORPHOLOGY	RERE	ACY1	FKTN	OFD1	RTEL1	DCC	TSEN54	B3GALNT2	SLC9A1	RTTN	BRAT1	TBCK	CACNA1A	STUB1	MACF1	EXOSC3	DPM2	CDKN1C	STT3A	GPC3	DOCK7	ACD	CDC42	PIK3R5	ATP5F1A	PCNA	MPL	SUMF1	L2HGDH	CEP120	PLA2G6	CEP41	PLD3	PIEZO2	RAB11B	ATXN1	TMEM67	EIF4H	CYP27A1	FAM149B1	ATP2B3	ERCC3	SIX3	PNKP	EXOSC5	KATNB1	MORC2	CRAT	MAB21L1	COASY	ERCC2	CCDC88C	RBM10	GTPBP2	ODC1	PTCH1	CTSD	TWNK	DYNC2H1	SMARCE1	B9D1	CLCN7	POLR3A	TWIST1	OTX2	EBF3	TBCD	TECPR2	RPL10	PACS1	CASK	SPG7	C19orf12	TRAF7	CHP1	BICD2	STT3B	POLG	HESX1	TOGARAM1	PCLO	CILK1	MARS2	TERT	SERAC1	CNTNAP2	CTNNA2	SC5D	PLP1	SMC3	RAC1	SDHD	SNX14	NRAS	COQ9	TXN2	ERCC1	SMARCB1	SRD5A3	CPLX1	CRPPA	NUP37	DNMT1	SDHC	ATP6V1A	KIDINS220	ALG3	SLC33A1	PDGFB	SKI	KMT2C	CLCN3	SMARCA4	FRRS1L	TKFC	TGFBR1	FANCB	TONSL	NODAL	FKRP	STIL	HRAS	AP4E1	DHX37	SLC25A19	PPP2R2B	FUS	TRAPPC11	DYNC2I1	TUBB4A	FLNA	GRID2	SPG21	MRE11	PLG	SLC39A14	KCNA1	MTHFS	BRF1	TARS1	POLA1	POLG2	ATXN3	ARID1B	REPS1	NPHP1	RAB3GAP2	DEGS1	CSPP1	FLI1	SUFU	METTL27	TRAPPC4	RNU4ATAC	KATNIP	AKT1	SYT14	DHCR7	TGFBR2	PTRH2	PPP1R12A	PIGN	TGIF1	CEP57	NPHP3	LCA5	NKX6-2	FTO	TCTN2	USF3	FIG4	ZPR1	PIK3CA	FAR1	SLC44A1	DNMT3A	ARNT2	VWA3B	ZIC1	ADGRG1	RAD21	PLAA	DAB1	POMGNT1	PNPLA6	TMX2	USP45	LEMD3	ATXN7	VPS4A	ELN	RAB3GAP1	VPS13B	OXR1	C2CD3	SAMD9L	FMR1	PDHX	MAN2B1	LIPT1	VARS1	DHX30	NGLY1	NUP214	TDGF1	INPP5E	ATAD3A	COG8	RBBP8	TUBGCP6	SIK3	FKBP6	TMEM138	CLPB	CEP104	BRD4	CREBBP	RNF113A	KIF1A	KCND3	SMARCD1	OTUD5	ROGDI	B4GALT1	ERLIN1	ERCC6	POMK	MICU1	USP18	ZFYVE26	GOT2	KLLN	BUD23	PEX10	GMPPB	WDR37	GBA2	PMM2	ALG6	DNAJC30	FGF14	MBTPS2	GLI3	MFF	SIL1	DISP1	FLVCR2	CNP	TUBA1A	PTEN	SCN1B	NDUFA1	KCNJ13	VPS37D	FOXRED1	RNASEH1	RNF13	EP300	TUBB2B	TAPT1	UCHL1	MT-TL1	LYST	EMC1	TMEM107	B4GALNT1	SCARB2	OSGEP	MKS1	PIGT	COL18A1	MED27	PDHA1	FGF12	MT-TE	SALL1	GON7	PIGU	DYNC1H1	ATP1A3	FRMD4A	LRRC32	TRAPPC9	PAFAH1B1	POMT2	B4GAT1	WDR81	CDH23	NFIA	SHH	TRIP13	PGAP1	FGFR2	PSAT1	AP4M1	GPX4	TAF1	AHI1	PDE6D	DISC1	ALDH18A1	MT-ATP6	IFT172	CACNA1G	KIAA0753	RNF216	HTT	RPS6KA3	COX4I1	FARS2	RFC1	MYOD1	PIGK	EXOSC2	EEF2	PIGG	YRDC	UFM1	YIF1B	HDAC8	KRAS	BCAS3	NOVA2	VLDLR	KCTD7	EBP	ATG5	CYP7B1	ITPR1	CNTNAP1	TBP	TBC1D24	CC2D2A	TFAP2A	ATN1	CEP290	ZMIZ1	KIF1C	GAS1	MAN1B1	TMEM216	ALG12	TRMT1	JAM2	CENPE	VPS51	THG1L	DCHS1	CENPF	RAPSN	POLR1C	CPLANE1	WARS2	CDK5	CDKL5	CCDC32	TMEM237	FANCI	GPAA1	SEMA3E	SOD1	TNPO2	IMPDH1	LARGE1	VHL	CUL4B	FTL	CPT2	EXOC7	PEX2	EN1	PARN	ADGRV1	NDUFA9	AP3B2	SLC1A3	PRRX1	ATXN2	NUP133	AIPL1	ARG1	DKK1	HLA-DQB1	VANGL1	FOXC1	LHX4	COL3A1	MME	PLK4	FGFR1	PPP1R15B	SPTAN1	PITRM1	UBA5	ATXN10	PIGQ	TRPC3	COG1	HYLS1	TSEN15	WASHC5	PIGS	FDXR	PRNP	GAN	VPS11	POMT1	RPGRIP1L	ARX	HDAC6	TPP1	SLC25A46	HERC1	SETBP1	SHANK3	GJB2	TP53RK	LRAT	ANO10	KCNC1	MYO7A	NDUFS1	ZNF592	MUSK	NDUFA6	LONP1	FGF8	COQ2	PRRT2	TTC19	TMEM231	MYH3	RFWD3	NALCN	B9D2	APC2	AFF3	EXOSC1	TBC1D2B	GAD1	ASPM	MT-TK	HSD17B4	SOX2	SMPD1	GDF6	ATP6AP2	NIPBL	KIAA0586	ZNF423	WHRN	FOXF1	GRM7	NMNAT1	MYO5A	CTSF	OCLN	VRK1	GRN	CLN8	RXYLT1	TUBB	MYORG	KIAA1109	KIF7	HEPACAM	BAZ1B	BAP1	TCTN3	EPRS1	PI4KA	KCNC3	INPP5K	FAM126A	BCORL1	ERMARD	UBE2A	TXNDC15	GALC	ERCC8	CCND1	ARHGEF2	NOP56	ATP13A2	CCDC22	PCGF2	COQ4	DKC1	SCYL1	TRAPPC12	PRUNE1	OPA1	DENND5A	PDHB	TAOK1	CEP164	WDR45	PAX2	COX20	ARL3	ZNF292	ASXL3	SLC35A2	INTS1	RORA	RELN	KCNQ1	ADSL	ABHD12	ROBO3	PEX16	GPC4	TINF2	USH1G	NDUFA8	WDR73	FUZ	GPSM2	ESPN	FOXH1	PDYN	IQCB1	MAP3K7	SYNE1	MED12	SON	PDGFRB	EPG5	KCNMA1	GRIA3	PCDH15	NEK1	DAG1	TOE1	MDH1	CLIP2	DHDDS	CYB5A	PRKCG	ARSI	GTF2IRD1	TRAPPC6B	GJB6	RBM8A	CEP55	COG7	SPART	CWC27	SACS	UBAP1	COA7	NAXE	ALS2	ALX4	SEMA6B	POLR3K	CWF19L1	HK1	KANSL1	DPM1	CCDC88A	DNM1L	AP4B1	SDHA	GTF2I	SCN2A	CP	NCF1	KCNQ1OT1	ZNHIT3	MAPK8IP3	ERF	DOCK6	PCYT1A	AHDC1	NELFA	ALG1	SYT2	MPLKIP	LAMB1	TOP3A	MSTO1	LETM1	GRIK2	CTBP1	RDH12	RRAS2	TMEM240	GTF2E2	NFIX	ARMC9	COG5	ATG7	JAM3	LAMA2	FA2H	POLR3B	GNAO1	NADK2	MID1	ZSWIM6	PHGDH	TUBGCP4	CHD4	SLC25A24	RHOBTB2	SPTBN2	AIMP2	TCTN1	ZNF335	BUB1B	WDR4	ZEB2	CLN5	APTX	IRF2BPL	PPP2R1A	DARS2	BCL7B	SMG9	PTF1A	AP4S1	NDP	AFG3L2	ARID1A	COL4A1	MDH2	WAC	RUBCN	WDR26	POMGNT2	TOPORS	SLC25A4	SOX11	SQSTM1	GPKOW	NDE1	POR	BTD	POGZ	CHD7	ZIC2	NAGA	RAB18	VPS53	POU1F1	PROKR2	SCN1A	USH2A	EHMT1	TBL1XR1	ALG9	SMC1A	FCSK	CAMTA1	ACTL6B	ATP6V1B2	TGM6	TDP1	SPATA7	SPTLC1	ASXL1	DHFR	SIGMAR1	GFM2	TSEN34	IBA57	TRRAP	CLN3	USP9X	LNPK	RFC2	MICOS13	FGFR3	WWOX	L1CAM	GRM1	CARS2	BICRA	CRX	DOK7	MYMK	SMPD4	TMCO1	BMP4	ATR	CDC40	MAG	TULP1	ATP8A2	MEF2C	COQ5	MFSD8	PHEX	DMXL2	SIK1	EXOSC8	TBC1D20	ZBTB11	NONO	TK2	ATP1A2	KCNJ10	NFASC	EVC	HNRNPH2	PMPCA	VPS41	LAGE3	MAF	GRIA2	PPP1CB	SMO	NUP88	COG6	PTH1R	CKAP2L	SMARCA2	BUB1	RPGRIP1	GJB1	ARL13B	EXOSC9	PPIL1	SETX	DNAJC3	ATP6V0A2	COQ8A	PRKDC	BCS1L	ATCAY	AP1S2	XRCC1	BCOR	WDR35	NOTCH3	CIT	KAT5	LAMA1	TERC	MLXIPL	MRM2	RPE65	VPS35L	ABAT	ARID2	NEUROD2	XRCC4	IFT140	RRM2B	SEPSECS	MGME1	RNASEH2A	SRPX2	IFRD1	CDON	TSEN2	MT-CYB	RARS2	CTSK	RNU12	GDAP2	CYFIP2	IGF2	LIMK1	BEAN1	SLC39A8	GNAQ	INTS8	HMGA2	VAC14	WNT1	PROP1	IER3IP1	PIBF1	ELOVL5	DLG4	NF2	OPA3	CSF1R	LMX1B	NSD2	SLC20A2	KIF14	NOTCH2	TBCE	IDH1	MINPP1	DPAGT1	NSD1	BCAP31	EOMES	CHMP1A	MCOLN1	GUCY2D	SOX4	LHX3	SETD2	SMARCC2	ATXN8OS	SLC5A6	UBTF	FBN1	SLC25A1	GEMIN5	MAST1	TTBK2	TUBB3	VANGL2	SOX3	CDC45	NUBPL	GTF2H5	STXBP1	PMPCB	SPRED1	DACT1	NFKB2	PORCN	BUB3	TBL2	PEX6	CIZ1	ADPRS	ASNS	SASS6	EXOC2	QARS1	STAG2	SEC23B	TRIM8	MVK	ACO2	FAT4	HHAT	THOC2	SPECC1L	FBXL4	OPHN1	ELOVL4	GPHN	DPH1	MAP2K2	TMEM270	NCAPG2	PUM1	DPF2	DYNC2I2	KDM1A	FAT2	RD3	STAT2	CBY1	STX1A	NDUFS4	AHCY	BCL11A	AARS2	MTHFR	LMNB1	EVC2	ERCC5	SLC18A3	SLC9A6	USH1C	GTF2IRD2	SPG11	GLI2	CIB2	DLL1	SH2B1	MFSD2A	YME1L1	CYB5R3	ATP6V1E1	CACNA2D2	CRB1	TRMT10A	GJA1	SH3TC2	AGTPBP1	PIGA	TREX1	DNAJC5	CARS1	ALDH5A1	DPYSL5	IFT80	PPP1R21	SDHB	PIGP	TMEM218	SLC25A22	SLC52A3	PDZD7	NARS2
HP_PROMINENT_DIGIT_PAD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_DIGIT_PAD	PKDCC	PUS7	PTPN23	TRIP12	WAC	NTNG2	SRCAP	ZMIZ1	TBL1XR1	SVBP	DDX6	HNRNPH2	SYNCRIP	TRMT1	BCAS3	KANSL1	KDM6A	MADD	MAPK8IP3	SATB1	KDM4B	KCNMA1	PALS1	AGO2	MED12	CTCF	SLC12A2	PSMD12	EMC1	MED13	MED12L	DOCK3	ZNF292	RPS23	FBXW11	WDFY3	RNF2	WASF1	MED27	ACTL6A	CLCN3	HTT	UBR7	KMT2E	BPTF	NTNG1	TCF20	EZH2	PRR12	KMT2D	EP300	SPTBN1	ZNF407	GRIA4	CNOT3	HPDL	NAA10	HUWE1	ARID1B	PAK3	FOXP1	BCORL1	RLIM	ACTL6B	TNRC6B	KAT8	SETD1A	CREBBP	BCOR	MYT1L	TRAPPC4	EMC10	LMBRD2	CCDC32	DPYSL5	MAP1B	JARID2	HS2ST1	TCF7L2	TANC2	ANKRD17
HP_LONG_PALM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_PALM	UBE3B	UPF3B	SLC2A10	POR	SMS
HP_BROAD_THUMB	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_THUMB	GPC3	FGF9	GPC4	NTNG2	SRCAP	ADNP	ZMIZ1	FGFR2	NOG	FGFR3	EED	FLNB	TRMT1	ROR2	G6PC3	PRKD1	SATB1	COL2A1	KDM4B	RBM8A	INPPL1	SUMF1	EZH2	SLC12A2	PSMD12	BPTF	KCNH1	MED13	XYLT1	DOCK3	MEGF8	MED27	CLCN3	HTT	UBR7	KMT2E	LIG4	B3GAT3	SATB2	TTC26	BICRA	FLNA	CREBBP	GRIA4	HPDL	PTEN	TWIST1	SNIP1	PUF60	BMP2	GLI3	ACTL6B	TNRC6B	SUZ12	MYT1L	EMC10	LMBRD2	DPYSL5	DVL3	HPGD	GATA4	TCF7L2	TANC2	CHST3	PUS7	PTPN23	BMPR1A	TRIP12	SIAH1	PACS1	USP9X	SVBP	DDX6	SYNCRIP	BCAS3	FGFR1	MADD	MAPK8IP3	DVL1	KCNMA1	GNAS	EP300	PALS1	GDF5	AGO2	SALL1	SMO	MED12	FBXW11	WDFY3	RNF2	WASF1	ACTL6A	ACAN	SMOC1	NTNG1	TCF20	GJA5	ALX4	SPTBN1	MAP3K7	CNOT3	RLIM	NSD1	NSUN2	RAB23	TBX5	DACT1	HUWE1	MEIS2	BCORL1	NXN	MSX2	PRKG2	KAT8	SETD1A	OTUD6B	WNT5A	HOXD13	TRAPPC4	CCDC32	JARID2	PYCR2	HS2ST1	EXOSC2	ANKRD17	GJA8
HP_SLENDER_TOE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLENDER_TOE	VPS13B	SMS	MTM1	PPP1R15B	TRMT10A	B4GALT7
HP_ABNORMALITY_OF_LONG_BONE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_LONG_BONE_MORPHOLOGY	FAM111A	OFD1	NTNG2	LZTFL1	DDRGK1	EED	CDKN1C	NDN	XYLT1	MGAT2	SALL4	TRPV4	COL1A2	GPC3	CKAP2L	TCIRG1	NKX3-2	SUMF1	KLHL41	LMBR1	FANCC	BCOR	CTNS	PEX3	MYF5	HSPG2	LARP7	FBN2	MED27	EIF4H	IFT140	HDAC4	UNC45A	RUNX2	TGFB1	IDUA	FANCF	MMP13	ERCC4	TTC26	FANCD2	RBM10	LIFR	BMPR1B	FZD2	DYNC2H1	B9D1	PRMT7	WDR19	TWIST1	ZIC3	RAD51C	GNAS	RSPRY1	FGF10	TBCD	PEX7	LRP5	CTC1	SLC39A13	AGPS	EVC2	PTEN	DMP1	GORAB	NADSYN1	ESCO2	EMC10	CRKL	TREX1	FGFR2	TG	PEX5	ATP7A	LRP4	SMC3	TBX4	SEMA3E	CHST3	PTPN23	TRIP12	DHODH	CLCN5	B4GALT7	PHYH	PUS3	SMARCAL1	GLI3	CENPT	RMRP	EHHADH	MAD2L2	FANCA	ALG3	COG4	SKI	PEX6	TONSL	WNT7A	SPTBN1	KNSTRN	FGFR3	CHEK2	DYNC2LI1	FBXW11	WDFY3	PIK3C2A	IDH1	FAM20C	SLC34A3	GJA1	SMOC1	RTEL1	DYNC2I1	TCF20	NIPBL	CD96	FLNA	PEX12	IFT81	KCNA1	BRF1	PDE4D	HDAC6	WDR35	JAG1	CSPP1	MEIS2	PLOD2	BCORL1	RLIM	ESR1	METTL27	NPR2	SLCO2A1	RNU4ATAC	NPAP1	DHCR7	CREBBP	GNPTAB	GDF5	COL11A2	RPS6KA3	MAGEL2	MYT1L	HBB	PEX16	FIG4	RPL13	ZPR1	CENPJ	IDS	NOG	ENPP1	PIK3CD	LONP1	RAD21	PEX11B	GALNS	PRKD1	COL2A1	ELN	VPS13B	TENT5A	SNRPN	FERMT1	GMNN	COL9A1	MAN2B1	LBR	ZNF141	ZMPSTE24	QRICH1	KMT2E	MEGF8	SIK3	MGP	PEX26	FKBP6	PAM16	BRD4	TSHR	COL9A2	SOST	PIGL	NSD1	HPDL	SLC26A2	SRP54	CSGALNACT1	SNIP1	RETREG1	TGDS	FBN1	ERCC6	BUD23	TERC	ANAPC1	PDE3A	NPHP3	ZNF469	FANCE	DNAJC30	SLC2A10	TCF7L2	SLC34A1	PNKP	PUS7	FLI1	SIAH1	SNX10	PEX14	SIL1	TWIST2	SYNCRIP	CLTCL1	SCN1B	SOX9	VPS37D	POC1A	LOXL3	GUSB	MATN3	EP300	SATB2	TAPT1	PTCH1	IARS2	FDFT1	AGO2	SDCCAG8	FGFR1	PTDSS1	TMEM107	TCF4	GGCX	CCDC8	PIGT	DNAJC21	TFE3	EIF2AK3	TMEM67	SALL1	SNORD115-1	ADA	PIGU	ACAN	MKS1	GJA5	PEX13	DVL3	SETD5	COL11A1	GPX4	IFIH1	PRDM5	COL1A1	ORC6	MSX2	XRCC2	LIG4	STX16	KAT8	IFT172	KCNE5	SETD1A	MET	KIAA0753	ANO5	PYCR1	AFF4	ATP6V1B2	TRIP11	BRCA1	ACP5	PORCN	SVBP	TNFRSF11A	PYCR2	EXOSC2	SERPINH1	KCNJ2	IDH2	OCRL	IQCB1	CANT1	ORC1	EFL1	RINT1	HDAC8	ORC4	FLNB	COMP	IFT122	RIPK4	PEX1	PITX1	DONSON	KDM4B	AIP	TSHB	CTCF	AIFM1	CEP164	CTBP1	C12orf57	CEP152	TCTN2	OSTM1	GLB1	HSPA9	THRB	ANTXR1	PRKAR1A	CEP120	ZMIZ1	ALG12	CENPE	EXT1	HNRNPA2B1	AMER1	TPM2	UGP2	CDKL5	TMEM237	FANCI	SHOX	NOTCH3	FANCB	ABCC9	SCUBE3	TNRC6B	CBS	ALPL	MMP9	VDR	DYNC2I2	BRAF	BPNT2	PACS1	USP9X	PDGFRB	LHX4	RPGRIP1L	TRAPPC2	CEP290	PALB2	ERCC8	INPPL1	IHH	NPM1	PIGQ	SF3B4	COG1	HYLS1	CLCN7	FANCG	GLI1	PIGS	ACTL6A	FN1	GAN	ARX	NF1	CUL7	SMO	HOXD13	SETBP1	MAP3K7	GSC	NSUN2	TNFRSF11B	TBXAS1	RAB23	DUOXA2	MAPK1	LEMD3	MUSK	ITCH	NEB	NHP2	TRIM37	TRPV6	CDC45	COL9A3	TMEM231	HS2ST1	ANKRD17	BMP2	RTL1	RFWD3	B9D2	AFF3	POR	SRCAP	CPLX1	SLC35D1	G6PC3	SATB1	DCLRE1C	NUP85	KIAA0586	MAP2K1	BPTF	B3GALT6	PTH1R	DYM	NMNAT1	SQSTM1	RB1	GPC6	SLX4	RECQL4	ANKH	PCYT1A	CHD7	BAZ1B	MEG3	TP53	TCTN3	EBP	NOTCH2	MIR140	INPP5K	HS6ST1	PLK4	TXNDC15	CRTAP	PRKG2	GPR101	ATP6V0A2	ROR2	PLEKHM1	WNK1	NOP10	DUOX2	KCNJ8	HERC2	UBE2T	HESX1	SCN9A	PEX10	HOXA13	PEX2	HEPHL1	ALG9	SLC35A2	WASF1	GPC4	TRAIP	KIF7	TINF2	B3GLCT	SLC5A5	CA2	NEK1	CLIP2	EXTL3	SH3PXD2B	GTF2IRD1	RBM8A	PTPN11	OTUD6B	DVL1	RET	ADAMTSL2	CWC27	SMAD4	DKC1	IL7R	EXOC6B	PRKACB	CDC6	TRMT1	TMEM216	RAD51	RAG2	SFRP4	LPIN2	KANSL1	AMMECR1	GTF2I	SCN2A	EZH2	NCF1	ARSL	DOCK3	SUCLG1	INTU	RAG1	MMP2	GNPTG	FIBP	EXT2	DDR2	OBSL1	ACTL6B	NFIX	NEU1	RASA1	SLC29A3	FANCL	DPYSL5	PTCH2	HPGD	GNAO1	HOXA11	SBDS	EFNB1	LMOD3	MAPK8IP3	COL10A1	KCNMA1	SLC10A7	ZEB2	BCL7B	IYD	NPHP4	KCNN3	MKRN3	WDR26	FGF23	NEPRO	SLC17A5	NPHP1	MED12	MED25	KIF1A	CCN6	ATRX	CYP3A4	NXN	POU1F1	NHS	IFT52	NSD2	GLE1	CCDC32	FAT4	SNRPB	SMC1A	CCNQ	FBXL3	TMEM251	SMARCA2	USB1	ACTA1	SLC12A2	RAB3GAP2	KCNH1	RFC2	UBR7	LTBP3	KIF22	BICRA	GRIA4	ATR	PIK3R1	RPS19	HARS1	IFT80	SON	PHEX	CYP2R1	SIK1	TCTN1	GRM7	PCNT	MRPS28	EVC	DMXL2	BMPR1A	CDT1	CASK	PLOD3	WNT5A	CFL2	LMX1B	ADAMTS2	HHAT	COG5	RNF2	TBCE	TRPS1	PEPD	CFAP410	NTNG1	NSMCE2	ARSB	PAPSS2	PEX19	CC2D2A	PSMD12	CNOT3	B2M	DLK1	MYSM1	GHR	ERCC1	TERT	BRCA2	TTC21B	NEK8	SNORD116-1	ACVR1	GATAD2B	RSPO2	FGF9	MLXIPL	SUFU	SRY	VPS35L	NEUROD2	FKBP10	PMP22	MCTP2	APC	EIF4A3	MED13	LIMK1	PISD	CLCN3	VAC14	PUF60	BGN	PROP1	SHH	POP1	RBPJ	SGMS2	CSF1R	ARCN1	LMNA	SUZ12	VCP	KAT6A	CASR	VPS33A	TMEM38B	ZNF699	TANC2	TBX3	DDX6	POLR1A	TREM2	LHX3	BCAS3	TBX15	GNPAT	MADD	SAMD9	ACSL4	PALS1	NANS	TUBB3	CHSY1	NPR3	POLR3A	IFT43	KIF15	MIA3	TNFSF11	ZNF407	TMEM165	DACT1	RPGRIP1	ANTXR2	GNAS-AS1	TBL2	RPL26	IFT57	NSDHL	PWAR1	RBBP8	PARN	UFSP2	MAFB	CHN1	PRKACA	MPZ	GJA8	FANCM	TRIM8	ADNP	LRRK1	DCHS1	FGFRL1	ADAMTS10	CYP27B1	DPYD	POLE	IL2RG	TMEM270	BRIP1	PTHLH	P3H1	INVS	HTT	ATRIP	B3GAT3	ZBTB20	NDUFAF6	STX1A	RAB33B	SCARF2	PLCB3	DNMT3A	TYROBP	KRAS	KDELR2	SEC24D	LMBRD2	P4HB	HINT1	GATA4	HNRNPA1	P4HTM	BHLHA9	BCR	GTF2IRD2	MTX2	SPART	LETM1	SLC2A2	TPO	PWRN1	MAP2K2	IPO8	ALX4	WRAP53	TBX5	HUWE1	CYP19A1	PIGP	TRAF3IP1	TRAPPC4	SLC25A22	MTAP	JARID2
HP_BICORONAL_SYNOSTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BICORONAL_SYNOSTOSIS	MSX2	SCUBE3	FGFR1	FGFR2	ZIC1	RECQL4
HP_MULTIPLE_SUTURE_CRANIOSYNOSTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_SUTURE_CRANIOSYNOSTOSIS	TBX1	ARVCF	SEC24C	RREB1	COMT	FGFR2	GP1BB	ERF	UFD1	HIRA	JMJD1C
HP_ANTERIOR_PLAGIOCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_PLAGIOCEPHALY	TBC1D24	MIR140	PIGO	ATP6V1B2	ERF
HP_ABNORMALITY_OF_FONTANELLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FONTANELLES	NDE1	MSX2	FAM111A	LMOD3	VPS35L	SOX9	ROR2	ETFDH	CDKN1C	TSHB	INPPL1	FGFR3	FIG4	ACTB	PEX3	KCNQ1OT1	CTSK	IGF2	TSHR	ALDH18A1	PEX19	ACTG1	COL11A2	RUNX2	AGT	AMER1	PROP1	HSD17B4	INTU	COX5A	LRP2	MMP2	RBM10	ALG1	DCHS1	CTSD	FAM20C	ZMPSTE24	NKX2-5	PEX13	TWIST1	ANTXR1	MYCN	LMNA	NEB	PEX14	PEX5	USP7	HOXD13	ALPL	VDR	FOXE1	SHPK	TG	FGFR2	MID1	SLC25A24	ORC1	NSMCE3	HPGD	PAX8	GPX4	LHX4	LHX3	NLRP3	GNPAT	ATP6V1A	MTX2	SMG9	COG4	SKI	CLCN3	PEX6	COL1A1	SPTBN1	HRAS	DSE	PEX1	IYD	POLR3A	CDC45	FLNA	NEPRO	EBP	PEX12	SETBP1	POR	NSUN2	DUOXA2	NKX2-1	PEX2	UBR1	MTOR	POU1F1	PTDSS1	RNU4ATAC	COL1A2	CREBBP	COL11A1	RPS6KA3	FAT4	NPHP3	MASP1	PEX11B	PEX16	ATP7A	SMC3	RTL1	MAF	CHUK	ZIC1	MVK	SIX2	REN	CYP27B1	KLHL41	RECQL4	VARS1	P3H1	PPP2R5D	PEX10	ATP6V0A2	ZSWIM6	LIG4	PEX26	TALDO1	PAM16	KIF7	ATR	ALG8	GLIS3	MEG3	ACTA1	ETFB	CHST14	HNF1B	LHX1	PLAGL1	CYP2R1	ADAMTS2	ANKRD11	MIR140	AGTR1	CRTAP	TBCE	PIEZO2	MPDU1	SEC23A	SLC34A3	DUOX2	ATRX	HESX1	DVL1	GLI3	ATP6V1E1	SLC26A4	MED12	BANF1	TPO	ARX	ASXL3	ALG9	KCNQ1	BMPER	GJA1	EP300	KLHL40	HYMAI	PIGA	PYCR1	ASPA	DLK1	ACE	DPYSL5	ERCC1	B3GLCT	PIGQ	SLC5A5	H19	ETFA	WNT5A	SH3PXD2B
HP_ABNORMALITY_OF_CRANIAL_SUTURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CRANIAL_SUTURES	ELN	FAM111A	COMT	KAT6A	COLEC10	ALX4	CDC6	ALDH18A1	RTTN	PDX1	MSX2	KANSL1	CDKN1C	RAC3	GPC3	IL6ST	TCIRG1	INS	CEP120	ACTB	HSPG2	KCNQ1OT1	ERF	KRT5	YY1	PEX19	AHDC1	RUNX2	ZMPSTE24	AGT	ERCC3	AMER1	TCF12	GPC4	MPLKIP	ERCC2	MMP2	RBM10	GCK	WDR19	TWIST1	FGFR1	CTSK	RSPRY1	LRP5	DMP1	GTF2E2	GORAB	NFIX	ESCO2	TOGARAM1	COLEC11	FGFR2	TG	ATP7A	FOXG1	SC5D	CHST3	MID1	CHD4	SLC25A24	TBCK	HPGD	NAA10	B4GALT7	RECQL4	ERCC1	NLRP3	GLI3	STAT3	EFNB1	WDR35	HNRNPU	ATP6V1A	MTX2	ZEB2	PPP2R1A	CYP26B1	SMG9	SKI	PEX14	CLCN3	TGFBR1	DDX6	IYD	FLNA	IFT140	POR	KIF1A	TARS1	PRDM16	IFITM5	IGF2	IFT43	SMAD3	PLOD2	POU1F1	KCNJ11	TGFBR2	COL1A2	CREBBP	GNPTAB	RPS6KA3	TMCO1	FAT4	AKT1	MAP1B	FIG4	ATP6V1B2	CENPJ	ZIC1	ASXL1	ENPP1	RERE	TENT5A	TBX1	GMNN	LIG4	ADAMTS3	BMP1	MEGF8	BICRA	PAM16	IRX5	BMP4	GLIS3	OTUD5	RPS19	RETREG1	SON	PHEX	POLA1	CYP2R1	KRT14	AGTR1	SLC2A10	ADARB1	TLK2	SNX10	COL11A1	PPIB	SLC34A3	AASS	MAF	THRA	PPP1CB	TAPT1	SMO	CCNQ	PTDSS1	PEX1	MASP1	TBCE	ZFHX4	IL11RA	ZNF462	EP300	MESD	FREM1	PIGO	PSAT1	DLK1	ACE	FLNB	COL25A1	ATP6V0A2	COL1A1	H19	HNRNPK	CDT1	CEP57	GP1BB	AGO2	AFF4	CDK8	NOTCH3	ORC1	DONSON	ORC4	KRAS	KDM4B	PURA	ATR	ROR2	IFT122	FKBP10	TSHB	TBC1D24	CTCF	CEP152	SLC39A8	ACTG1	SLC12A6	NUP188	VAC14	PROP1	HSD17B4	PRKCZ	FAM20C	UBE4B	ANTXR1	LMX1B	ARVCF	SCUBE3	USP7	CDH11	ALPL	NOTCH2	VDR	UFD1	KDM5B	HUWE1	SEC24D	RNF125	CCBE1	DDB1	NSD1	ZNF699	ADAMTSL1	CENPE	ARID2	BPNT2	PIGT	BCL11B	INTU	FGFR3	LHX4	HIRA	LHX3	LMNA	KCNAB2	SETD2	FBN1	CLCN7	DSE	SP7	GPC6	MMP23B	TANC2	POLR3A	CDC45	HERC1	SETBP1	TNFSF11	PDPN	GTF2H5	ERCC6	STXBP1	NSUN2	RAB23	DUOXA2	ABCC8	PDGFRB	SEC24C	MAPK1	RBBP8	SMC3	ADSL	RTL1	APC2	DCHS1	B3GALT6	SIX2	SPEN	REN	CYP27B1	SPECC1L	NUP85	DPH1	EXOC8	P3H1	AIFM1	ATRIP	B3GAT3	MYH3	SCARF2	P4HB	SMAD6	MEG3	RNF113A	CHST14	MAN2B1	CASZ1	ADAMTS2	ANKRD11	MIR140	KPTN	KDELR2	ERMARD	PLK4	ERCC5	CRTAP	PCNT	JMJD1C	WNK1	SEC23A	SH2B1	DUOX2	HESX1	SCN9A	ATP6V1E1	MED12	LUZP1	BANF1	PTCH1	FBLN5	TPO	SETD1A	IFT52	ZNF292	ASXL3	SLC35A2	PTEN	KCNQ1	PPP3CA	TRAIP	SMARCD1	MAP3K7	ASPA	LEMD3	GABRD	MMP14	B3GLCT	LEMD2	SLC5A5	PPP1R21	ALG9	PRKG2	RREB1	EXTL3	SH3PXD2B	DPF2	CWC27	ORC6
HP_METOPIC_SYNOSTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METOPIC_SYNOSTOSIS	HNRNPK	SON	GPC4	HERC1	PTCH1	FREM1	SIX2	ASXL3	GLI3	CDK8	WDR35	DDB1	GPC3	OTUD5
HP_FACIAL_SHAPE_DEFORMATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_SHAPE_DEFORMATION	NPHP3	ACE	MAN2B1	REN	PKHD1	CEP55	AGTR1	ITGA8	HIBCH	UBA1	AGT	FGF20
HP_FRONTAL_HIRSUTISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRONTAL_HIRSUTISM	DLK1	RTL1	MEG3	FLNA	CKAP2L	TASP1
HP_ABNORMALITY_OF_MOUTH_SIZE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_MOUTH_SIZE	UBE3A	SMAD4	NTNG2	COMT	ZMIZ1	CDC6	NALCN	FLCN	RTTN	TRMT1	SRCAP	TWIST2	MGAT2	GPC3	ABCC9	AP4B1	CDC42	GTF2I	ACTB	NCF1	PAX3	HSPG2	LARP7	CHSY1	ROR2	DOCK3	MAPK8IP3	PIEZO2	FBXO11	TRIP12	ALDH18A1	SOS1	MED27	EIF4H	POLR1C	ZMPSTE24	AP2M1	EXOSC5	SATB2	GPC4	SET	PRRX1	MYLPF	DSE	TWIST1	CHRNG	OTX2	TRIP4	SMARCA4	RPL10	PACS1	BRPF1	ACTL6B	EDN1	STRADA	BBS7	EMC10	CRKL	LMNA	DPYSL5	TBX4	TNNI2	CHST3	ERLIN2	SLC25A24	PTPN23	PACS2	SLC12A2	WAC	KATNB1	CA2	B4GALT7	RECQL4	SMARCB1	MEG3	CENPT	POLR1D	KCNMA1	WDR4	MED13L	WDR73	BCL7B	ARID1A	AP4S1	CLCN3	PPM1D	SLC2A1	KARS1	AP4E1	PSPH	FBXW11	WDFY3	AP4M1	FAM20C	KCNN3	BPTF	TCF20	TASP1	CD96	ATP10A	FLNA	SOX11	POLD1	IFT140	MED12	POR	SCYL2	ATRX	AUTS2	PRDM16	SMS	ARID1B	POGZ	CHD7	TRMT5	SMARCE1	MTOR	PIGN	BCORL1	NXN	RLIM	NRXN1	DLK1	METTL27	CREBBP	COL11A1	CCDC32	CDK13	ALG9	NEXMIF	MYT1L	CAMTA1	SPEN	PIGF	ADAT3	PIK3R2	RERE	INSR	GALNS	SPEG	TRRAP	SMARCA2	ELN	RYR1	TBX1	GMNN	SLC6A1	KCNH1	RFC2	IARS2	QRICH1	UBR7	KMT2E	LIG4	LTBP3	ADAMTS3	UBE3B	OCA2	FKBP6	PIGB	IRX5	TMCO1	GRIA4	RNF113A	HPDL	CDK19	SMARCD1	DCPS	TNNT3	SNIP1	PIK3CA	FBN1	BUD23	TBC1D20	TPM2	NONO	PMM2	MYH3	DNAJC30	TCOF1	TCF7L2	PUS7	TLK2	BMPR1A	CLCF1	BCL11B	MADD	HNRNPH2	SYNCRIP	CDT1	CCND2	PTEN	PIGL	VPS37D	MAF	RAI1	CRLF1	AGO2	IGF1R	GBA	PTDSS1	TCF4	SEPTIN9	OSGEP	DHCR24	GNAI3	SCN1A	RNF2	SALL1	PIGU	NTNG1	NFIA	EP300	PGAP1	ANKRD11	SPTBN1	KDM3B	B3GLCT	CNOT3	UBE2A	MAPRE2	MDM2	ORC6	KAT8	CEP57	SETD1A	GP1BB	RPS6KA3	ATP6V1B2	SNRPN	YWHAE	PQBP1	STAG1	NFIX	AMMECR1	GATAD2B	CANT1	KDM6B	KAT5	ORC1	APC	MLXIPL	TMEM67	SUPT16H	DONSON	ORC4	AKT3	ARID2	ATIC	AKT1	KDM4B	CTCF	EIF4A3	PSMD12	MED13	CHD2	LIMK1	KCNK4	ACTG1	COL11A2	COL2A1	PRKCZ	DCHS1	CENPF	MMP1	ZNF148	UBE4B	LMX1B	SEMA3E	BMP2	ARVCF	PHACTR1	IDUA	TNRC6B	FGFR2	NOTCH2	KAT6A	CUL4B	UFD1	SH2B1	HUWE1	CCBE1	TAF6	DDB1	ZNF699	RAB3GAP1	TANC2	BPNT2	ADNP	TMEM70	TP63	RALGAPA1	SOX4	DDX6	HIRA	BCAS3	KCNAB2	PPP1R15B	SMARCC2	PALS1	COG1	SYNGAP1	MECP2	SP7	ACTL6A	MYBPC1	MMP23B	POLR3A	CDC45	PLCB4	ATAD3A	TXNL4A	HDAC6	COL7A1	SETBP1	PDPN	AGA	STXBP1	FREM2	GSC	NSUN2	GNB2	DACT1	RAF1	GLB1	MAPK1	MCM5	MKS1	MUSK	SEC24C	TBL2	HIVEP2	PAFAH1B1	WNT3	HS2ST1	ANKRD17	RTL1	AFF3	DHCR7	NEB	GNS	FAT4	SATB1	DPYD	RSPO2	RIPK4	TMEM270	NMNAT1	DPF2	SOX6	HTT	ZSWIM6	SSR4	HECW2	B3GAT3	OFD1	TALDO1	BIN1	ZBTB20	TUBB	STX1A	PIGY	BAZ1B	COL3A1	CHST14	CASZ1	POLR1B	LMBRD2	ITGA3	SIN3A	JMJD1C	BCR	GTF2IRD2	SEC23A	SVBP	PCGF2	MTX2	KCNJ8	TTN	MAP2K1	LUZP1	PTCH1	MED12L	TRMT10A	ASXL3	MBD5	WASF1	ATP6V0A2	ADSL	GJA1	PIGA	AP1S2	TTC37	SF3B4	SON	GABRD	SKI	ZMYND11	SH3PXD2B	LEMD2	COG7	RREB1	DDX11	CLIP2	EXTL3	TRAPPC4	GTF2IRD1	TRIO	JARID2	KLHL15	ADAMTSL2
HP_ABNORMALITY_OF_MOUTH_SHAPE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_MOUTH_SHAPE	PIGG	KAT6A	COLEC10	HDAC8	MLXIPL	KDM4B	CLTC	ADAM22	ROR2	NDN	SRCAP	PDX1	BRAF	BCAS3	MTOR	MGAT2	STAT3	NOVA2	KANSL1	CCDC88A	SNRPN	INPP5E	KCNJ6	CDC42	INS	AP1S2	TBC1D24	HSPG2	EXT2	CTBP1	ZNHIT3	FBXO11	DGCR6	KDM1A	RPS23	TRIP12	HDAC4	TWIST2	PIGW	NELFA	HMGA2	LIFR	GTPBP2	PIGN	LETM1	GCK	DLK1	MYLPF	CHRNG	EBF3	IGF2	KCNH1	NSD2	PACS1	BRPF1	PIGL	COLQ	PPP2R1A	NFIX	NEXMIF	PPP2R5D	EIF2S3	CDH11	NOTCH2	STRADA	LAMA2	PHF21A	COLEC11	PCLO	FOXP1	DVL3	ERCC2	SC5D	PURA	SMC3	PIGT	PACS2	RAC1	NONO	SMC1A	SLC35A2	FZD2	DIS3L2	LAMB2	TFAP2B	POMT2	PPP1R15B	CPLX1	WDR4	MED13L	ZEB2	PIGV	CSNK2B	TET3	TRAPPC9	SLC6A8	ATP1A3	OCRL	CHAMP1	TCF4	DHX37	KIAA0753	CACNA1A	TCF20	MKRN3	POLR3A	KIF15	NIPBL	TASP1	NRAS	EBP	SETD5	TBX1	MAGEL2	MED12	ZNF407	OCA2	ATRX	TELO2	POGZ	GNB2	HS6ST2	ZSWIM6	ABCC8	MEF2C	NXN	KIF7	HOXB1	KCNJ11	ALX4	NPAP1	ERF	RPS6KA3	PWAR1	FAT4	DVL1	IL1RAPL1	TUBB4A	ESS2	ATP6V1B2	ZPR1	PDE4D	MYH3	NALCN	AFF3	DCHS1	PIGF	FGFRL1	RTL1	RAD21	EEF1A2	CCDC174	GK	LEMD3	EHMT1	DPYD	VPS13B	CCDC47	AFF4	NCAPG2	HNRNPK	PGAP3	BUB1B	PRR12	CNOT3	ZBTB20	SIM1	BRD4	ELN	RAB18	PGAP2	STAC3	PIK3R1	NTNG2	RAI1	KCNK9	DGCR2	SON	FAM149B1	MIR140	LMBR1	WDR37	UBE2A	REV3L	MSL3	SLC9A6	HRAS	SIN3A	RNU4ATAC	MEG3	MAFB	KAT8	FLII	ATP1A2	PLOD3	PIGO	DST	HERC2	DEAF1	WNT5A	UNC80	GFM2	PPP1CB	DENND5A	KIF1A	SOX11	NKAP	HACE1	GBA	MED12L	TRMT10A	MASP1	PWRN1	WAC	MBD5	ATN1	INTS1	TFE3	SLC1A3	SNORD115-1	PIGU	ZMYM2	PIGA	SHMT2	SMARCD1	ASXL3	RLIM	ANKLE2	PUS7	PIGY	GRIA3	PIGQ	AHI1	PAK3	DGCR8	PLXND1	SOX5	IQSEC2	EXTL3	PRKAR1A	AGO2	TMEM237	SNORD116-1	AKT1	KCNMA1	OGT	GPC4	ZC4H2	PARS2
HP_ABNORMALITY_OF_UPPER_LIP_VERMILLION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_UPPER_LIP_VERMILLION	SMAD4	TGFB3	UNC80	KAT6A	PRKACB	RPL10	NALCN	RPS7	BRAT1	TBCK	CLCN4	NDN	HK1	DPM1	DPM2	KCNJ6	AP4B1	CDC42	FBN1	ROR2	MAPK8IP3	RAB11B	KDM1A	YY1	CDH2	PIGW	AP2M1	SATB2	CEP63	PREPL	DDX59	MAN1B1	IRF6	NODAL	SRCAP	EBF3	RSPRY1	SMARCA4	RAPSN	PACS1	STIL	STRADA	MYO18B	CRKL	SLC26A2	FOXG1	ZSWIM6	SLC25A24	PACS2	EHMT1	WAC	MED25	SMC1A	KATNB1	EDA	NAA10	RHOBTB2	SMARCB1	HNRNPU	ARHGEF6	SETBP1	PTCH1	AP4S1	CLCN3	MYOD1	PPM1D	ATP1A3	SLC2A1	ARID1A	BRCA1	IQSEC2	SPTBN1	CPLX1	CHAMP1	COPB2	CACNA1A	TCF20	RAI1	PDGFRB	MKRN3	SIX3	PMM2	WDR26	NIPBL	TASP1	EDARADD	CDON	SOX11	BPTF	MED12	TMEM94	PDE4D	ZNF711	ATRX	AGL	PIGV	WDR62	ARID1B	POGZ	AP4E1	KIF14	SMARCE1	SYT1	MEIS2	MTOR	PIGN	NXN	NPAP1	ALDH6A1	GALNT2	DIS3L2	PTRH2	FAT4	USP9X	DISP1	CDK13	MAP1B	NEXMIF	OCA2	ATP6V1B2	FAR1	MAGEL2	ANKRD17	PBX1	SPEN	GPC4	CCNQ	RTL1	PLAA	EEF1A2	NSUN2	TRRAP	SNRPN	CENPJ	SLC6A1	CIT	QRICH1	SLC25A46	MCPH1	DLG3	STEEP1	UBE3B	ZIC2	TNRC6B	PIGB	SMPD4	MECP2	ADGRG6	CDK19	KCNJ2	TGIF1	SMARCC2	SMARCD1	TOE1	PGAP2	DCPS	GLIS3	PAX3	KCNK9	B4GALT1	MICU1	AP3B1	FRMPD4	FOXH1	WDR19	RAB39B	CDK10	MSL3	RNU4ATAC	ADARB1	SPATA5L1	HDAC8	BCL11B	COL11A1	FLII	GNE	MEG3	PYCR2	AGTR2	MAF	TUBGCP2	DEAF1	KIF11	DVL1	PPP1CB	SASS6	IGF1R	GBA	ARX	NOG	SMARCA2	MED27	SCN1A	SLC1A3	SNORD115-1	PIGU	ZNF462	NFIA	GLI2	KDM3B	B3GLCT	MESD	PIGO	SETD5	PSMD12	DLK1	SHH	AP4M1	USP27X	TAF1	PIGQ	HNRNPK	PURA	THOC6	PRKDC	ZNF81	ANKLE2	ACTB	TRPS1	KMT2A	OTUD6B	WNT5A	AGO2	PAK3	SNORD116-1	AFF4	KCNMA1	PQBP1	AMMECR1	PIGK	EXOSC2	GATAD2B	MBD5	APC	GAS1	SUPT16H	RALA	RAD21	VPS35L	KDM4B	CLTC	ARID2	ZBTB18	PGAP3	ATIC	MYL2	PIEZO2	ASPM	MCTP2	FIG4	TBC1D24	CTCF	ZNF41	CHD2	CYFIP2	GDI1	FTSJ1	CNOT2	KCNK4	ZMIZ1	PUF60	CEP135	IER3IP1	ALG12	VPS51	KCNH1	KNL1	PIGL	ABCC9	PPP2R1A	SLC9A7	CDK6	EDEM3	HUWE1	CNKSR2	TAF6	DDB1	ADAMTSL1	RYR1	CTNNB1	PIGT	ADNP	MED13	NONO	SLC35A2	SC5D	SOX4	TBL1XR1	METTL5	PPP1R15B	EP300	CACNA1C	DMD	COG1	BMP2	SYNGAP1	TRAPPC9	OCRL	DSE	ACSL4	CLCN6	IFT43	PITX2	SYP	KIF15	EXT1	DYRK1A	ZNF407	SUFU	TRAPPC14	TSPAN7	GNB2	MAPK1	STAG2	LAS1L	ACTG1	PIGG	PWAR1	IL1RAPL1	EXOC2	SMC3	ADSL	AFF3	DCHS1	GAD1	FGF8	SPECC1L	LMBRD1	NCAPG2	PPP2R5D	DPF2	TDGF1	OFD1	KDM5C	CREBBP	RNF135	SIM1	MID2	BCL11A	TWIST2	MPC1	OPHN1	FGFR1	CLP1	CHST14	HS2ST1	ANKRD11	MFSD2A	ALG13	MINPP1	TAF13	ARHGEF2	ZNHIT3	BCR	PCGF2	CEP152	SEC23A	ATP1A2	HERC2	WARS2	DENND5A	KCNJ5	MED12L	TRMT10A	SETD1A	PWRN1	ZNF292	ASXL3	UPF3B	ATN1	RPS6KA3	MID1	SSR4	ZC4H2	POLR3A	EDAR	PHC1	CSNK2A1	CDH11	SHMT2	PTCHD1	CDK5RAP2	PIGY	DLL1	PPP1R21	EIF5A	ALG9	ODC1	WDR4	TMEM237	NCAPD3	SH3PXD2B	EDA2R	OGT	HCFC1
HP_LONG_UPPER_LIP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_UPPER_LIP	B3GALT6	TBL1XR1	TRPS1	SLC35C1	AFF2	DIS3L2	ARX	EXOC6B
HP_MILD_GLOBAL_DEVELOPMENTAL_DELAY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MILD_GLOBAL_DEVELOPMENTAL_DELAY	SOX3	NSMCE3	CENPJ	ADNP	TSPAN12	B4GALT7	NDP	ATR	DHTKD1	TPP2	DBR1	AASS	ASPA	LCA5	NUP85	COG1	ABCA2	ACTB	CTSK	GJA1	CEP152	LRAT	PDP1	RBBP8	ATRIP	LRP5	ZNF462	PRKAR1A	WDR26	TRAIP	ACAD8	IARS1	MT-TK	PLP1	GNB2	ABCC8	RRAS2	FTCD	CTNNB1	OCRL	SPATA7	PHKB	RNF168	ALB	RPE65	AP3B1	PEPD	TANGO2	ALDH4A1	PLK4	FZD4	MCM4	NONO	CDC6	KCNJ11	DOLK	MAP1B	ZNF408	CENPE	PCNT	TBX4
HP_MODERATE_GLOBAL_DEVELOPMENTAL_DELAY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MODERATE_GLOBAL_DEVELOPMENTAL_DELAY	PGM3	RTL1	TMEM70	CNNM2	CDKL5	ADNP	HSD17B10	IRX5	TPP2	DLK1	PLP1	SDHAF1	MEG3	TET2	HAL	AIFM1	EGF	SDHD	TANGO2	PSMC3	SDHB	MADD	SDHA	TBX4	PHGDH
HP_SEVERE_GLOBAL_DEVELOPMENTAL_DELAY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_GLOBAL_DEVELOPMENTAL_DELAY	NTNG2	ZMIZ1	VPS35L	RTTN	TRMT1	TSEN54	TRIM8	KDM4B	RNASEH2A	MT-ND3	FIG4	ABCC6	PSMD12	MED13	DOCK3	YY1	TUBB2A	MED27	CLCN3	GNPTAB	ALG1	SATB2	KATNB1	TTC26	LAMB1	FGF13	ERCC2	ALG12	VPS51	LIAS	UGP2	KCNH1	CASK	ACTL6B	PHACTR1	PEX14	TNRC6B	PEX5	FOXA2	STRADA	EMC10	MADD	ADK	ARNT2	DPYSL5	CTNNA2	HESX1	TANC2	DEAF1	AP3D1	PTPN23	TRIP12	TBCK	SMC1A	RALGAPA1	TBL1XR1	DDX6	TXN2	ERCC1	BCAS3	MAPK8IP3	TSEN34	ZNF335	KCNMA1	NTNG1	PALS1	TSEN15	PEX16	VPS11	PEX6	MECP2	SEPSECS	PEX19	PIGS	KARS1	TUBB3	PEX1	FBXW11	WDFY3	ACTL6A	BPTF	OTX2	KIF15	WDR26	TCF20	SLC25A46	DYRK1A	MED25	DPM1	RNASEH2C	ERCC6	TELO2	DEGS1	SEMA5A	PEX2	PEX3	VPS53	PIGN	BCORL1	RLIM	DALRD3	GABRG2	TANGO2	PSMC3	MT-TW	PIGG	STAMBP	CCDC32	PEX11B	MYT1L	HS2ST1	ANKRD17	ZPR1	EXOC2	MT-ND1	ADSL	RTL1	GRIN1	MT-TL1	MT-TT	SRCAP	ADNP	DYNC1I2	ACO2	GABRA2	MTRR	PEX10	KCNJ6	GSX2	SATB1	FBXL4	VPS4A	DPYD	CCDC47	INSR	SLC12A2	PEX13	TSEN2	EXOC8	LHX4	FGFR3	DYM	GRM7	SYT1	HTT	UBR7	KMT2E	PHGDH	PROP1	BUB1B	UGDH	GRM1	GAMT	LSM11	GRIA4	PLCB3	STXBP1	HPDL	POU1F1	MT-TK	MEG3	RNF2	NTRK2	EMG1	EIF2S3	CDKL5	ERCC5	LMBRD2	SLC9A6	MT-TV	ENPP1	MT-ATP6	SNX14	TCF7L2	ARX	PUS7	GLI2	SVBP	SLC25A19	SYNCRIP	CLTCL1	NIN	POMGNT1	MT-ND2	SLC16A2	TRAPPC12	UNC80	PEX26	GFM2	CYB5R3	GLUL	AGO2	MT-ND4	GEMIN4	ASXL3	INTS1	WASF1	RELN	TBR1	PIGU	RAB3GAP2	MT-ND6	NDUFA8	CTNND2	SPTBN1	NEXMIF	DAG1	ACOX1	CNOT3	PEX12	DLK1	COG8	RNASET2	HUWE1	AIMP1	MT-ND5	PPP1R21	PURA	GABBR2	KAT8	SETD1A	MN1	GLYCTK	CYB5A	EXTL3	TRAPPC4	RPS6KA3	ALG2	NDE1	JARID2	PYCR2	TUBA8
HP_GENERALIZED_ABNORMALITY_OF_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_ABNORMALITY_OF_SKIN	WNT10A	ELN	EDARADD	EPB41	SLCO1B3	MYO5A	MYO9A	WAS	AGRN	RTEL1	CTSA	PLXND1	KIT	NDN	STUB1	MAT2A	POLA1	NLRP3	COL1A2	TBX20	TRPV3	SLURP1	AGA	PARN	PCNA	PEX3	TERC	CHRNE	LARP7	PTPN3	PDE8B	KRT10	GABRA1	TSHR	NECTIN1	SOS1	EIF4H	TWIST2	PIGW	UNC45A	TGFB1	ZMPSTE24	ERCC3	NKX2-5	CYLD	TTC26	ATP8B1	ERCC2	RBM10	NBEAL2	MYORG	ODC1	GJB4	FH	TPI1	MT-ATP6	ATRX	HELLPAR	SLC2A10	WDR19	GJA1	DLST	ERCC5	IL12A	CTC1	SLC39A13	BRCC3	PTEN	MT-CO1	CCN2	GORAB	COL7A1	TGFBR2	MT-ND1	DEF6	PRF1	ACADVL	TREX1	LMNA	TRPM4	SPTA1	POGLUT1	TERT	TG	KDSR	ATP7A	XPNPEP2	IFIH1	F8	SLC20A2	F12	SMC3	SDHD	HPGD	HSD3B7	SOX18	TSC1	MVK	EDA	FANCC	IL12RB1	MT-ND6	ABCD3	CAV1	PUS3	ERCC1	STAT3	CDH23	AEBP1	CALR	SDHC	PKP1	CYB5R3	ATP6V1A	SLC25A3	MT-TF	COG4	SKI	SLC35A1	SULT2B1	PEX6	SCN2A	SMC1A	ATP1A3	SLC2A1	SPTBN1	TNXB	DSP	LAMB3	LYST	DDX6	CSTB	ALMS1	PDGFRB	SERPINA1	MBTPS2	MMACHC	SFTPB	LCP2	PLEC	NFKBIA	ITGB4	NIPBL	PRKACA	PEX12	FUCA1	MRE11	GATA4	UROS	ARMC5	TARS1	IFT43	JAG1	HYOU1	FLI1	GTPBP3	CTNNB1	FLNA	CTSB	RAC2	CD109	MT-TL1	RHAG	SCN10A	METTL27	RNU4ATAC	NPAP1	AKT1	DHCR7	NPC2	RAB3GAP2	MYH11	ALOXE3	RPS6KA3	AKR1D1	NCF4	SCARB2	FTO	HBB	GP1BA	PEX16	USF3	POU2AF1	VHL	SP110	C2	PKHD1	SLC44A1	CENPJ	ETHE1	PLOD1	RAD21	PLG	NHLRC1	ADAR	ITGA2B	FAS	NR1H4	SNRPN	TBX1	FERMT1	EGFR	SDHAF2	GBA	PRKAR1A	IL17RA	F5	ACTA2	ALAS2	RABL3	LIG4	GALE	HLA-DRB1	STIM1	HPS4	KRT1	KCNQ3	SLC4A1	COL1A1	NLRC4	TNFRSF1A	SIK3	SPTB	PEX26	FKBP6	BRD4	MS4A1	RNF113A	SERPINF2	PIGL	FANCD2	IRF5	KRT14	DOCK6	PEX5	SLCO1B1	RET	ICOS	TSC2	GLMN	PIK3CA	PAX3	VWF	ERCC6	PDCD10	USP18	MITF	PLCG2	MAGEL2	COL13A1	KLLN	BUD23	ANAPC1	ABCB11	CPN1	ZNF469	ALDH2	PMM2	ALG6	DNAJC30	SDHB	ATP6AP1	TFAP2A	TFR2	SPTLC1	STX11	FASLG	SNX10	PEX14	TSPAN12	MT-CO3	CCR6	VPS37D	SMAD4	NLRP12	RHD	LIPA	SFTPC	FDFT1	SMAD2	ARL13B	BRCA2	IGF1R	PTDSS1	TCF4	GGCX	CBS	PIK3R1	GP9	ERCC8	TP63	ATP2C1	SLC1A3	TET2	SNORD115-1	XPA	DLL4	UROD	SLC29A3	F13A1	NFIA	NTRK1	MYLK	ANTXR2	TMEM260	IL2RG	PSAT1	COG8	FIP1L1	ATP6AP2	ANK1	YARS1	PRDM5	C1R	SAMHD1	HEY2	TMEM127	PRKCD	NDUFB11	SEPTIN9	HNF4A	GLA	CDKN1B	ETFA	ANGPT1	NAGA	RNASEH2A	GATA1	PYCR1	ADA2	PORCN	IL18BP	CASK	PARS2	NF1	SOX10	RINT1	FCGR2A	SUPT16H	LBR	SLC25A13	ADGRE2	HDAC8	ALDH18A1	KRAS	ABCC2	XRCC4	ETFDH	CD19	TSHB	BRAF	DOK7	CTCF	CLEC7A	PCDH19	CHD2	CEP152	LAMA3	GSN	COL5A2	GFI1B	F13B	ANTXR1	TALDO1	MT-TW	TMC8	INSR	SCN4A	PRKCZ	SLC16A2	TGM5	ALDOB	MMP1	PCK1	FCGR2C	PSMG2	SLC25A20	DDB2	EIF2AK3	BRCA1	CYP27A1	LZTR1	NCF2	PROC	CFI	RIN2	MPL	UGT1A1	FKBP14	SMPD1	TNFSF12	KRT8	UFD1	KRT5	DPAGT1	RNF213	EDNRB	PSENEN	GHR	CENPE	PIGT	PALB2	SYT2	P2RY12	SLC37A4	LHX4	COL3A1	HIRA	KCNAB2	FGFR1	SLC10A1	PPP1R15B	CHAT	NPM1	VIPAS39	ATP6V1B2	AGPAT2	PPARG	ATP6V1E1	HPS1	GJB3	MUSK	SYNGAP1	CLCN7	GP6	TBX19	GUCY1A1	MEFV	DSE	CHRNA1	AIP	HLA-B	TP53	APOE	MDH2	BLOC1S3	PDPN	GJB2	FECH	NOTCH1	GP1BB	NSUN2	F7	KCNQ2	DUOXA2	TGFB3	KRT85	ELP1	TRMU	ATP11C	NPRL3	DCDC2	GNAS	ERCC4	SEC24C	CDAN1	LMNB2	MAPK1	PSMC3	NHP2	TRAF3IP2	PMVK	TLL1	XPC	MASP1	CFH	ZBTB16	PIGA	PTPN22	FBN1	UVSSA	KCNK9	APC2	RUNX1	PEX1	CPOX	HSPG2	ALPK1	CYB5A	NCF1	KMT2E	CLDN1	SREBF1	EPB42	ABCB4	PEX11B	NUP85	SPEN	AP1S1	NFKB2	MAP2K1	BLOC1S5	JUP	VAMP1	FCGR2B	LRP4	SBDS	KRT2	MT-TS2	OCLN	PROS1	PGAP3	KITLG	RECQL4	SMARCAD1	ASXL1	SCN11A	ATL1	PAX8	GDF2	DGUOK	PRKAG2	HBA2	BAZ1B	ATM	GJB6	NEU1	SLFN14	WIPF1	RNF168	RBM28	CD81	SERPING1	PLK4	JAK2	MT-ND5	POLE	MRAS	NLRP1	ELMO2	ENPP1	CFHR3	F10	SYK	ATP6V0A2	MAOA	PDE11A	NUMA1	FOS	CBL	ATP1A2	DKC1	ATP7B	TYR	NOP10	POLH	DUOX2	TRHR	HERC2	NOD2	HESX1	ETV6	TCIRG1	GPR35	RHCE	NKX2-6	CFTR	GLUL	PEX2	KIAA0319L	CHST14	FBLN5	ABCB6	RYR1	TBL1XR1	KNG1	SLC17A9	IL36RN	TNFSF15	STXBP2	NFIX	DSG4	TINF2	FUZ	TRAIP	EDAR	TTC37	SF3B4	MED12	ITGA2	SDHA	CCDC115	SH2B3	CCM2	AK9	SLC5A5	ACVRL1	ENG	RREB1	DDX11	CLIP2	COX4I2	ADAM17	GTF2IRD1	PLAU	KIF12	COG7	PERP	SNAI2	TNPO3	PKLR	CYP7B1	CTLA4	TGFBR1	COMT	MPV17	SLC6A19	EOGT	KANSL1	MT-CYB	HR	KCNJ6	G6PD	FGFR3	GTF2I	SLC25A11	IFNG	KRIT1	SCN9A	MYH9	TOR1A	RHOH	DZIP1L	AP2M1	HCCS	MPLKIP	SLC25A1	GRIK2	MT-TH	CDSN	ARHGAP31	DNMT3A	ATR	CD28	CASP10	USP8	GTF2E2	NABP1	MT-ND4L	RASA1	LPL	NGF	GALT	RNASEH2C	ITGB2	SMAD3	LMAN1	GCLC	HOXA11	PHGDH	CAVIN1	SPTLC2	SLC25A24	PDGFB	ABCC6	ANKRD26	WDR35	MTX2	BCL7B	SCN1A	PRSS1	PRKACG	RIT1	HLA-DPA1	IYD	TGFB2	CACNA1A	ABL1	MKRN3	IKBKG	FLT4	HPS5	POLD1	CHRNB1	HNF1B	MT-CO2	PRDM16	KIF1B	CTRC	DIAPH1	ARID1B	VPS53	POU1F1	RAB3GAP1	HK1	RAPSN	SPINK1	EDN3	FZD4	HMGCL	CPA1	ARL6IP6	ZNF408	GATA2	NEXMIF	HBA1	MYD88	C4A	COL5A1	AGXT	MEN1	VPS33B	DHFR	BCOR	RERE	NDUFS2	CLPX	SEC23B	SMARCA2	DDR2	USB1	SLC6A1	DNASE1L3	RFC2	KCNN4	NPRL2	FGF23	SERPINE1	ITGA6	GYPC	LRP5	PRKG1	ABCA3	CD46	PML	SLC27A4	FERMT3	KRT18	RORB	SLC2A2	GLRX5	SLC39A4	SLC5A7	SLC30A10	CR2	SPIB	HFE	PGAP2	C1S	ETFB	CDIN1	BLM	ELOVL4	CDH3	ACTC1	LRP1	HS3ST6	FOXP3	GNA14	DSTYK	CLTRN	SPINK5	EVC	BMPR1A	DTNBP1	BMP2	TFAM	EPHB4	SPOP	PLOD3	AKT3	TNFRSF1B	SRSF2	PRTN3	EPM2A	ADAMTS2	COG5	PTF1A	B4GALT7	PEPD	HLA-DPB1	MMP21	ALDH3A2	KRT74	COX7B	USP53	NAA10	BSCL2	UNC13D	SCN8A	SETX	SLC51B	DEPDC5	GALM	NBAS	AMACR	DAXX	MDM2	SLC26A4	MT-ND4	POLG2	SNORD116-1	EPHB2	ADAMTS13	PPOX	GNPTAB	MLXIPL	TGM1	HSD17B10	STING1	CSTA	ALG8	FRG1	PFKM	CFHR1	PRPS1	TBXA2R	LIMK1	TNFRSF13B	FYB1	GNAQ	POFUT1	MMEL1	PIEZO1	PSMB8	SLC51A	PGM3	PROP1	ALOX12B	IER3IP1	TOP3A	STAT5B	ALDOA	RAB27A	COL17A1	CYBB	IL7	STN1	UBE4B	IL17RC	LMX1B	WRN	ARVCF	MCFD2	SNAP25	FGFR2	CDH11	F2	IL17F	MYOF	NSD1	HPS6	FANCE	FANCA	ZNF699	CHRND	MFAP5	LORICRIN	RNASEH2B	LIPN	LHX3	BMPR2	NFKB1	SETD2	SAMD9	LAMC2	FCGR3B	PIGV	B3GALT6	XPR1	PRSS2	PEX19	ITGB3	NBN	MMP23B	POLR3A	PALLD	TNFSF11	GTF2H5	DPM1	SLC34A2	STXBP1	EIF2AK4	GNB2	RAF1	ACD	COL12A1	CASR	TBL2	TMC6	NSDHL	ZIC3	PWAR1	RBBP8	CARMIL2	GIMAP5	ARX	GABRG2	LOX	CYBA	STAG1	IKZF1	RARA	TMEM270	NECTIN4	AQP5	RASGRP1	PRRT2	BPGM	ACP5	EXPH5	SEMA4D	PEX10	ATL3	PEX13	ATRIP	MVD	STX1A	NDUFS4	PTPN11	CDKN2A	MT-ND2	CITED2	ORAI1	SLC18A3	CASZ1	ADAMTSL2	BAAT	GALK1	EVC2	GLB1	KRT83	MYH6	ITGA3	PCNT	JMJD1C	IFT122	GTF2IRD2	NDP	GPI	PRICKLE1	PIGO	GATA6	TNFRSF13C	TRMT10A	NPC1	DNASE1	SCN1B	LUZP1	BANF1	MST1	TPO	MAX	PWRN1	HOXC13	MAP2K2	FOXE3	IPO8	HLA-DQB1	IRF2BP2	CIB1	FDPS	HBG2	GABRD	WRAP53	PIGY	LEMD2	EPAS1	RBPJ	JAM2	CYBC1	MTAP	PLIN1	MT-TQ	PDSS1	HPS3	MANBA
HP_LOCALIZED_SKIN_LESION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOCALIZED_SKIN_LESION	RERE	TP53	IL12A-AS1	PROM1	OFD1	NTNG2	IL12A	KAT6A	PIK3CA	RTEL1	EED	CDKN2B	RRAS	COL1A2	CDKN1C	GPC3	TRPV3	SLURP1	COX7B	CDC42	HRAS	CDK4	RIT1	FANCC	PDE8B	KRT10	NF1	TSC2	MED27	EIF4H	CYP27A1	TAP1	TWIST2	GATA6	APOB	ZMPSTE24	FANCF	KRT6B	ERCC4	CYLD	LDLRAP1	FANCD2	LIFR	ODC1	KRT6A	ERAP1	KRAS	IRF6	PRMT7	FGFR1	BRIP1	GNAS	ADAR	ERCC5	BMS1	LRP5	CTC1	SLC39A13	RPL10	PTEN	CCN2	TSC1	COL7A1	TAPBP	NADSYN1	ESCO2	LRAT	EMC10	FANCG	LMNA	TRPM4	MLX	SLC7A14	PCARE	STAT4	MITF	POGLUT1	TERT	KDSR	ATP7A	SNAI2	PSTPIP1	SIX1	TBX4	KRT5	PTPN23	TRIP12	SDHD	MED25	VHL	KRT14	SOX18	MVK	EDA	HGSNAT	NAA10	NRAS	B4GALT7	PUS3	NLRP3	FKBP10	SMARCAL1	SBF2	APC	CDH23	AEBP1	GJB6	CPLX1	COLEC10	SDHC	POLR1D	MAD2L2	SHANK3	FANCA	GALC	GJB2	COPB1	SPTBN1	ABCC6	KDM6A	ELANE	CAV1	LAMB3	FGF3	FBXW11	WDFY3	SRP54	IDH1	BRAF	PDGFRB	MBTPS2	LEMD3	TCF20	ITGB4	PRKACA	ATP2A2	TTC37	UROS	ARMC5	PCSK9	PLP1	IGF2	CRX	MEFV	SEMA5A	ALX3	APOA5	TCIRG1	FLNA	BCORL1	RLIM	TERF2IP	METTL27	ACD	AKT1	TGFBR2	CREBBP	ARL6	FLT4	CEP57	TMCO1	EDARADD	NCF4	MYT1L	HBB	APOE	USF3	GUCA1B	ERGIC1	PTPN22	COL12A1	PLOD1	IDS	SPEN	CERKL	NEDD4L	RP1L1	HCCS	INSR	PRKD1	FAS	ELN	WNK1	TBX1	FERMT1	PMS2	IL17RA	ATP6V1B2	SYT1	LAMA3	KRT1	SLC4A1	KMT2E	RBBP8	KIT	COL14A1	TNFRSF1A	UBE3B	FBN1	FKBP6	LIPC	POT1	PIGL	HPDL	AGBL5	TEK	KRT17	AIRE	DOCK6	EGFR	LDLR	GLMN	KCNK9	ERCC6	RASA1	HMGA2	GATA5	KLLN	BUD23	TERC	ANAPC1	BCOR	FANCE	SATB2	MSL3	PRCD	DNAJC30	SPTB	SLC2A10	TFAP2A	TCF7L2	PHIP	SPTLC1	PUS7	GDF1	SYNCRIP	RETREG1	SOX9	CCR6	VPS37D	ALX4	EP300	PTCH1	C4A	AGO2	DHDDS	ARL2BP	PTDSS1	TCF4	LDHA	ERCC8	GNAI3	DSTYK	THPO	EIF2AK3	SALL1	XPA	DLL4	KIF11	GGCX	NTRK1	ANTXR2	TMEM260	TRIP13	DVL3	CDKN2A	FGFR2	KIF1B	COL6A1	ANK1	YWHAE	TAF1	VANGL1	COL1A1	C1R	MSX2	DEAF1	XRCC2	SMARCAD1	PLXND1	TREX1	NDUFB11	HNRNPK	PAX3	KAT8	GLA	SEMA4A	ACVR1	CDKN1B	SETD1A	NAGA	PYCR1	ADA2	BRCA1	PORCN	PRPF31	SVBP	KCNJ2	IDH2	OCRL	PTPN11	KDM6B	SOX10	PIGG	HLA-DRB1	GFI1	PRPF3	RIPK4	MTOR	SNRPN	KDM4B	G6PC1	ASAH1	IFT140	APOC2	CTCF	RAF1	LYST	CTBP1	CLEC7A	MAX	IRF5	PSAP	SPRED1	RP1	HSPA9	PPP1R17	GSN	COL5A2	PSMD12	ANTXR1	PRKAR1A	TMC8	MAN1B1	PRKCZ	MC1R	TGM5	MMP1	DDIT3	FANCI	DDB2	STEAP3	LZTR1	NCF2	SEMA3E	ATP2C1	NOTCH3	FKBP14	TNRC6B	SMPD1	WAS	TNXB	ALPL	CUL4B	UFD1	GORAB	EDEM3	DPAGT1	CTSC	EDNRB	PSENEN	UBAC2	ECM1	ITGA6	ORC1	NEK9	IFT88	FAM161A	DIS3L2	SLC37A4	COL3A1	HIRA	CRIPT	CYP1B1	PALB2	FUS	KCNAB2	PDE6A	APOA1	NPM1	CBL	KLHL7	DHX38	HPS1	GJB3	EDNRA	WASHC5	SDHB	ARFGEF2	MSH2	F12	PIGS	DSE	SASH1	SOS1	ACTL6A	ROM1	GPNMB	AIP	HLA-B	FGFR3	RDH12	SETD5	SMO	PDPN	PLEC	PRPF6	XYLT2	NOTCH1	CCR1	GSC	NSUN2	TBXT	UBR1	SOS2	ABCG5	SEC24C	PROC	MAPK1	SUZ12	SIX5	MPL	NHP2	TRAF3IP2	EXT2	ARF1	PMVK	TRIM37	XPC	MASP1	SNRNP200	HS2ST1	ANKRD17	PDE4D	SMC3	AFF3	SRCAP	CPOX	HSPG2	NCF1	CLDN1	CIB1	EPB42	EFTUD2	SATB1	TP63	H1-4	ABCA1	MAP2K1	BLOC1S5	KMT2A	KRT2	PROS1	RBP3	KITLG	SLX4	RECQL4	PRPH2	SAG	MAP2K2	ATL1	ASXL2	BAZ1B	ATM	RHO	FMR1	WIPF1	BEST1	RRAS2	RBM28	MERTK	UBE2A	RMRP	MSH6	SIN3A	SYK	JAG1	MPDU1	PDE11A	PPARG	CCDC22	PCGF2	ZNF513	MED13L	PARN	DKC1	TYR	NOP10	POLH	LPL	UBE2T	NBN	NOD2	RP9	FSCN2	TTC8	KIAA0319L	DST	ERCC3	ABCB6	MGMT	COL17A1	WASF1	SLC35C1	KCNQ1	CLRN1	TINF2	COL2A1	GJA5	CTNND2	MAP3K7	SF3B4	MED12	TULP1	RFWD3	WDR1	B3GLCT	CRB1	MAP1B	ERCC2	RREB1	CDKN2C	CLIP2	EXTL3	SH3PXD2B	GTF2IRD1	RBM8A	OTUD6B	DVL1	SPECC1L	IGF1	PERP	CWC27	SETBP1	TGFB3	CTLA4	COMT	NAXE	MPV17	CITED2	ZMIZ1	TRMT1	SKIV2L	TTPA	RAD51	LPIN2	GBA	HK1	KANSL1	KIZ	NKX2-5	GTF2I	NEK2	AK2	NKX2-6	EBP	KCNQ1OT1	ROR2	EYA1	DOCK3	ERF	ALDH18A1	MLH1	NELFA	CDKN1A	POLR1C	LAMC2	GNAQ	GPC4	IMPG1	MMP2	LETM1	GATA4	BAP1	ARHGAP31	NF2	MDM2	CD28	USP8	ACTL6B	POMGNT1	NFIX	EDN1	SALL4	COL6A2	SLC29A3	PAFAH1B1	FANCL	DPYSL5	ITGB2	SMAD3	PTCH2	REEP6	CARD14	PLAG1	MID1	SPTLC2	PDGFB	KDM5C	DSP	MAPK8IP3	MRAS	HNRNPU	BUB1B	KCNMA1	MTX2	ABCA4	BCL7B	MYH3	KIF1A	COL5A1	CCL2	CHUK	TRAF6	HLA-DPA1	CCT5	ABL1	BPTF	SPATA7	TASP1	SLC45A2	POLD1	AUTS2	PRDM16	CHD7	ARID1B	IFNG	TMEM127	SPTA1	PIGN	NXN	BBS2	NSD2	EDN3	ABCG8	FANCB	UBA1	CCDC32	FAT4	ARL6IP6	BCL6	CNGB1	MEN1	ASXL1	LMF1	BCL2	ZNF408	CA4	DDR2	ENPP1	TNFRSF11B	USB1	USP9X	TLR4	SLC12A2	RFC2	PDE6G	IARS2	RET	HAVCR2	UBR7	LIG4	PRR12	FERMT3	CDH3	SPRED2	SLC39A4	IRX5	GRIA4	IMPG2	RGR	CDHR1	NFKB1	PIK3R1	NLRP1	ZFPM2	VPS13B	SCAPER	BLM	ELOVL4	KDF1	AAGAB	COL6A3	REV3L	NECTIN1	RAD51C	CDK10	IL12B	EYS	LRP1	GNA14	IL6	GBE1	PRPF8	TCOF1	PCNT	KIF7	CLTRN	CD96	TNFRSF11A	MGP	UROD	ARHGEF18	IFNGR1	EPHB4	SPOP	PTH1R	TNFRSF1B	WNT5A	FLCN	PPP1CB	TUB	PRTN3	ADAMTS2	DHCR24	IFT172	TGFBR1	PDE6B	BUB1	FN1	TMTC3	RNF2	ZFHX4	APOA2	ZNF462	CFTR	PEPD	HLA-DPB1	NTNG1	CHRNG	NSMCE2	ANKRD11	BTK	EPHX2	CNOT3	MYSM1	SLC17A9	COL25A1	GRHL3	IL23R	H19	BRCA2	WBP11	CFAP418	GP1BB	SLC6A19	PPOX	EOGT	MLXIPL	SUFU	STK11	USH2A	TYRP1	CSTA	FLNB	FUZ	MCTP2	LBR	KCTD1	MED13	NR2E3	BTNL2	RP2	LIMK1	XYLT1	CLCN3	POFUT1	PSMB8	IMPDH1	PGM3	PUF60	KMT2D	TOP3A	RBPJ	DLG4	CYBB	IL7	ZNF469	UBE4B	IL17RC	WRN	ARVCF	KDR	AHR	NOTCH2	IL17F	LPAR6	ZNF699	TANC2	EDAR	ERCC1	NONO	LORICRIN	STAT3	IDH3B	FZD2	DDX6	LIPH	DOCK8	CHRNA7	BCAS3	SHOC2	MADD	PALS1	KLHL24	VANGL2	PAX1	ST3GAL5	CYP26C1	DHPS	MMP23B	POLR3A	PLCB4	KIF15	RPE65	TXNL4A	P4HA2	EIF2AK4	HDAC8	GNB2	DACT1	NRL	IDH3A	STAG2	BUB3	TBL2	C1S	TMC6	TOPORS	MAFB	CHN1	CARMIL2	RASA2	FANCM	SEC23B	DSC3	LTBP2	DCHS1	B3GALT6	ALX1	FGFRL1	SCN9A	CTNND1	CYBA	DYRK1A	IKZF1	TMEM270	AQP5	NCAPG2	ACP5	IL10	ATL3	HTT	GHR	ZSWIM6	ACTB	SLC25A24	STX1A	MAK	ERMARD	KIAA1549	OCA2	RAB23	RPGR	ARL3	CHST14	CASZ1	POLR1B	ADAMTSL2	CNGA1	LMBRD2	HIC1	KRT83	KRT16	NGF	JMJD1C	GJA1	GTF2IRD2	RHOA	PRKCD	GJB4	LUZP1	MSX1	IKBKG	B9D2	TGFB2	HLA-DQB1	KLRC4	HOXA13	NCSTN	GATA1	CTNNB1	GABRD	SKI	WRAP53	PRPF4	MMP14	HUWE1	CDH1	MYOC	RLBP1	ALG9	TAP2	TRAPPC4	CYBC1	MTAP	SUGCT	CAPN15	JARID2	AHI1
HP_REGIONAL_ABNORMALITY_OF_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REGIONAL_ABNORMALITY_OF_SKIN	WNT10A	DKC1	NTNG2	ITGB4	PERP	RPL10	ZMIZ1	TNNC1	TRMT1	RB1	BRAF	RRAS	KANSL1	TRPV3	SLURP1	BAG3	ABCC9	TAT	CKAP2L	NEXN	RIT1	GTF2I	NCF1	ROR2	DOCK3	TRAPPC11	KDSR	KRT10	KRT5	RAB11B	YY1	DOCK6	RPS23	NECTIN1	TMPO	MED27	EIF4H	HDAC4	TCF4	LAMC2	KRT6B	TCF12	ALOXE3	LAMB3	RBM10	LIFR	GJB4	USB1	KRT6A	IRF6	PNPLA1	DSP	CAST	SERPINA12	TWIST1	CHRNG	GJA1	NFKB2	PRDM16	KRT16	CTC1	SLC39A13	PLEC	ACTL6B	CHD7	PEX14	COL7A1	NHP2	EMC10	TRPM4	DPYSL5	AAAS	ALOX12B	POGLUT1	PTCH2	KRT9	TGM1	CARD14	SMC3	TBX4	SEMA3E	GLE1	PHGDH	SLC25A24	PTPN23	BHLHA9	EHMT1	PNPLA6	TRIP12	SDHD	WAC	HPGD	KATNB1	NOP10	KRT14	SOX18	DHODH	TSC1	B4GALT7	KRT1	FKTN	SRD5A3	GJB6	MAPK8IP3	MRAS	SDHC	PKP1	KCNMA1	NALCN	TNFRSF1B	BCL7B	MYH3	KIF1A	GJB2	PEX6	DSG1	SPTBN1	HRAS	PEX1	KDM6A	FBXW11	WDFY3	MBTPS2	KCNN3	BPTF	SMOC1	BMPR1B	RTEL1	TCF20	NIPBL	TASP1	GPKOW	MED25	COG6	AUTS2	TELO2	SERPINB7	TSEN54	ARID1B	FLG	CTSB	PLOD2	MTOR	PIGN	BCORL1	NXN	RLIM	GATA1	JUP	RAB3GAP1	METTL27	SLCO2A1	RNU4ATAC	AKT1	NSD2	CREBBP	BRF1	BCOR	RAB3GAP2	RPS6KA3	CCDC32	TBL1XR1	PEX11B	MAP1B	MYT1L	SMC1A	USF3	FIG4	ERGIC1	PKDCC	DMD	FGD1	TPM2	NOG	RTL1	RAD21	PLAA	COX14	LMNA	EXTL3	ELN	ASXL1	WNK1	VPS13B	FERMT1	SLC12A2	DES	RFC2	PEX13	KRAS	FKBP10	LAMA3	SMARCA2	ITGA6	UBR7	KMT2E	COL14A1	UBE3B	MYBPC3	PRR12	COL17A1	TERT	FKBP6	SPRED2	DOK7	BRD4	SMPD4	SLC39A4	GRIA4	BMP4	PIGL	HPDL	ERCC5	CDK19	ATR	KRT17	MCOLN1	RAF1	PEX5	TNNT2	OTUD5	CSGALNACT1	FOXP1	TSC2	PEX16	PIK3CA	MYPN	BLM	TGDS	ATP2A2	KLLN	BUD23	AAGAB	TERC	ANAPC1	NIPAL4	WDR37	NBAS	CDK10	MSL3	DNAJC30	CSRP3	CHRND	TCF7L2	PUS7	NLRP1	CD96	KCNH1	ABCA12	CTSC	MEG3	HNRNPH2	SYNCRIP	PTEN	RETREG1	PLOD3	SDR9C7	VPS37D	PEX26	SGCD	PTCH1	AGO2	LMX1B	NUP88	EMC1	LDHA	PDHA1	RNF2	ZNF462	CFTR	PEPD	FLNA	NTNG1	PIEZO2	EP300	CNOT3	DLK1	PIGQ	CHRNA1	C1R	SMARCAD1	KAT8	CEP57	SETD1A	GJB3	TRPS1	IVNS1ABP	ATP6V1B2	RIN2	PORCN	TAF1A	TNNT3	MYOD1	LRP4	PTPN11	PLN	FGF9	APC	MLXIPL	SUFU	LBR	HDAC8	STING1	KDM4B	PLOD1	TRIM8	RIPK4	LDB3	CSTA	ESCO2	AIP	MCTP2	SASH1	PEX12	HSPG2	CTCF	PSMD12	CTBP1	MED13	LIMK1	FGFR2	VPS33A	CLCN3	KANK2	GSN	POFUT1	TFAP2A	NUP188	DSG2	VAC14	KAT6B	PUF60	XYLT1	KMT2D	VPS51	TGM5	RAPSN	TXNRD2	CRYAB	TP63	TNNI3	ZNF469	SALL4	DLX4	PTPRF	CYP27A1	LZTR1	FHL2	RHBDF2	TNRC6B	NEXMIF	CYP4F22	AQP5	DPAGT1	CCBE1	PSENEN	PPCS	ADAMTSL1	TANC2	TPM1	LORICRIN	STAT3	XPA	PACS1	DIS3L2	DDX6	TAFAZZIN	BCAS3	SHOC2	NPM1	MADD	KRT6C	TSEN34	PALS1	GDF5	TSEN15	NUP107	KLHL24	PAX1	SMS	SEPSECS	PEX19	PIGS	EYA1	ACTC1	ERCC6	DSE	SOS1	ACTL6A	GPC6	MYH7	IFT43	PITX1	SCN5A	ACTN2	EXT1	ZNF407	POMP	STXBP1	GNB2	NAA10	PEX2	UBR1	NRAS	SOS2	RSPO1	ERCC4	LONP1	TBL2	ITCH	IFT57	TRIM37	PARN	XPC	ANKRD1	DSC2	HS2ST1	ANKRD17	RASA2	KCNK9	SEC23B	AFF3	CHUK	SRCAP	ADNP	DHCR7	CPLX1	FGFRL1	SCN9A	TNNI2	CIB1	G6PC3	SATB1	DPYD	DDB2	STAG1	CAP2	MAP2K1	TMEM270	PPP2CA	SNAP29	NECTIN4	ANKRD11	TSEN2	SPECC1L	SEMA4D	ATP6V0A2	PSEN2	KRT2	HNRNPK	HTT	OFD1	DOLK	CHST3	RECQL4	STX1A	RBM20	CD28	ASXL2	TTN	FGFR3	BAZ1B	PSEN1	CERS3	EFNB1	CHST14	KRT83	ARL3	RRAS2	SLC18A3	LMBRD2	SIN3A	GPR101	NGLY1	IFT122	CTLA4	GTF2IRD2	SVBP	MTX2	GMPPA	SDHA	KCNJ8	DPH1	GPR35	LETM1	VCL	MED12	ERCC3	MST1	HAND2	MED12L	ZNF292	ASXL3	WASF1	MYH6	MAP2K2	MMP2	PEX10	ZC4H2	HOXA13	ZMYM2	EZH2	SETBP1	MAP3K7	MUSK	LEMD3	TINF2	WRAP53	THOC2	MMP14	HUWE1	B3GLCT	PAK3	SDHB	ERCC2	DDX11	CLIP2	TCAP	CBL	ENPP1	TRAPPC4	ADAM17	GTF2IRD1	GATAD1	LAMA4	CEP55	IGF1	CD4	JARID2	PEX3
HP_GENERALIZED_HYPOPIGMENTATION_OF_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_HYPOPIGMENTATION_OF_HAIR	MOGS	MYO5A	DKC1	RTEL1	TYR	PARN	TYRP1	NOP10	TGM3	KANSL1	NPM1	RMRP	TP63	USB1	BLOC1S5	ABCA2	MC1R	UBE3A	LYST	DSTYK	PRKAR1A	TINF2	SLC45A2	UROC1	SLC17A5	WRAP53	OCA2	UBR1	TERT	ACD	PIGN	CTC1	PAX3	PADI3	PDE4D	AP3B1	TERC	NHP2	LPAR6	RAB27A	SNRPN	PAH	MLPH	GNPTAB
HP_DRY_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DRY_HAIR	ERCC6	GJA1	RPL21	ASL	BCS1L	KRT74	LPAR6	KRT17	ERCC8	PQBP1	PADI3	SVBP	ARID1B	WNT10A	GNPTAB
HP_ACQUIRED_ABNORMAL_HAIR_PATTERN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACQUIRED_ABNORMAL_HAIR_PATTERN	IKBKG	APC	KDM5C	DMPK	CNBP	COL17A1	ABCD1	ECM1	KRT81	TP63	ZMPSTE24	KRT83	TGM3	IL2RA	KRT86	DSG4	PADI3	PQBP1	PORCN	SYNGAP1	BLM	SLC6A1	NECTIN4	EBP	NR3C1	SLC2A1	CHD2	HR	LMNA	SCN1A	ALMS1	NEXMIF	WNT4	ANTXR1	ITGB4	AP2M1
HP_ABNORMAL_HAIR_QUANTITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HAIR_QUANTITY	FSHR	WNT10A	TP53	EDARADD	MSX1	OFD1	RTEL1	ECM1	UQCRFS1	CCDC28B	STUB1	XYLT1	ABCD1	MGAT2	BMP15	RRAS	GPC3	TRPV3	CDC42	HRAS	SKIV2L	RIT1	HSPG2	PDE8B	DCAF17	NECTIN1	CDH2	HDAC4	TWIST2	ZMPSTE24	ERCC3	NDUFA10	KRT6B	MAB21L1	GTPBP2	ODC1	GJB4	KRAS	IRF6	LMNA	TWIST1	FGFR1	HSD3B2	ALOXE3	BBS5	NR5A1	EBF3	GJA1	ASL	TBCD	CTC1	RPL10	PACS1	EVC2	MT-CO1	CEP290	WT1	CEP19	ESCO2	MT-ND1	NHP2	DOCK7	TOGARAM1	CDH3	FRAS1	TERT	ERCC2	KDSR	ATP7A	TGM1	SNAI2	SMC3	ERLIN2	LHB	GNRHR	DUSP6	EHMT1	BBS7	MBTPS2	MED25	KATNB1	CYP17A1	SOX18	EDA	SNX14	NRAS	B4GALT7	SMARCB1	SRD5A3	GLI3	CASR	CDH23	GJB6	FREM1	POLR1D	RMRP	PKP1	ATP6V1A	PHF8	SETBP1	MT-TF	CLCN3	GJB2	SMARCA4	COPB1	SMC1A	PET100	SPTBN1	KNSTRN	DSP	KDM6A	DYNC2LI1	LAMB3	SGSH	ALMS1	KREMEN1	KRT86	RAI1	NFKBIA	ITGB4	NIPBL	PRKACA	NSMF	UROS	PSMC3IP	APCDD1	TMEM94	ARMC5	BRF1	TARS1	SMS	ARID1B	WDR35	IFT43	SEMA3E	MT-TL1	SLCO2A1	RNU4ATAC	KCNN3	CREBBP	TMCO1	NKX6-2	FIG4	FLNA	ZPR1	ABCA5	PTPN22	AIRE	CENPJ	SPEN	ADAT3	KAT6B	RAD21	PLAA	TRIM32	NDUFV2	KRT83	INSR	ZFPM2	PRKD1	LEMD3	NDUFA4	FAS	RAB3GAP1	PNPLA6	MAN2B1	KCNH1	DHX30	LAMA3	WNT10B	KIT	ADAMTS3	UBE3B	NDUFAF2	BRD4	CDH1	RNF113A	RAB18	PIGL	KRT14	KRT17	RUSC2	SMARCD1	DOCK6	SPATA5	OTUD5	MKKS	ERCC6	SPRY4	MITF	WWOX	NDUFA12	TERC	ANAPC1	SATB2	PHIP	TLK2	IDUA	ABCA12	GNE	CNP	KRT25	TTC7A	EMC10	POC1A	TUBGCP2	DEAF1	SNRPE	H6PD	PPP1CB	IGF1R	ZIC2	KRT71	HR	DSG4	PIK3R1	PHF6	CLMP	COL18A1	TP63	MED27	TFE3	LIPN	PIGU	DLL4	UROD	FRMD4A	TRAPPC9	SLC29A3	NTRK1	KISS1	TUBB	EP300	MESD	CYB5A	KRT10	ECHS1	TAF1	KNL1	ORC6	LIG4	COG4	PAX3	ACVR1	ST14	KIAA0753	GATA1	AFF4	ATP6V1B2	SLC19A3	COX15	CAV1	PORCN	EXOSC2	PTPN11	MT-ND6	HDAC8	KDM4B	EDAR	IFT122	RIPK4	BCAS3	TTI2	FGF17	HTRA1	AIP	SASH1	DSG1	CTCF	RAF1	SCO2	CEP152	GLB1	HSPA9	GSN	UBR1	TFAP2A	AR	ANTXR1	MT-TW	CACNA1G	TRMT1	PEX7	PRKCZ	MC1R	TBX3	CDK5	UGP2	MMP1	DLX4	KRT6A	FGFR2	BCS1L	RIN2	CERT1	ABCC9	WDR11	CBS	IRAK1	VDR	LSS	CTSC	CCBE1	MCCC2	PARN	TACO1	CENPE	BRAF	FGF3	XPA	HLA-DQA1	KCNAB2	ERCC8	PPP1R15B	FHL1	NPM1	ARL6	AP1B1	AGPAT2	CBL	PPARG	GJB3	EDNRA	MKS1	OCRL	LMNB2	SOS1	UBR7	MSTO1	MT-CO3	SETD5	GNA11	SMO	PDPN	PLEC	MAP3K7	NOTCH1	HGSNAT	NDUFB8	KLF13	NSUN2	NUP107	KRT85	COL3A1	PDGFRB	ADA	SOS2	GNAS	ERCC4	GNRH1	MAPK1	PSMC3	SUZ12	MRPS22	EXT2	SRY	XPC	RTL1	COL7A1	APC2	AFF3	CPOX	APOE	CLDN1	AXL	SREBF1	AHSG	DCLRE1C	NUP85	DDB2	MAP2K1	JUP	BPTF	MAP3K1	GATAD2B	RAB3GAP2	NMNAT1	KMT2A	MT-TS2	LZTFL1	UGDH	RECQL4	TALDO1	KIFBP	MPLKIP	TSR2	DNAJC21	DVL3	CHD7	IL2RA	MEG3	FMR1	NEU1	FGF8	EBP	NOTCH2	SCAPER	ANKRD11	RRAS2	HS6ST1	RBM28	BCORL1	PLK4	EDNRB	MT-ND5	BBS10	UBE2A	CUL4B	ELMO2	PRKG2	GPR101	ATP6V0A2	SHROOM4	CTLA4	PROK2	FEZF1	PDE11A	KRT74	HLA-DRB1	SEC23A	FOS	PCGF2	DMRT3	BTD	DKC1	NOP10	FLI1	FOXL2	KCNJ8	BBIP1	SOX11	HEPHL1	BBS2	ARX	WDPCP	ZNF292	ASXL3	ALG9	COL17A1	ANOS1	PTEN	TTC8	HLCS	TINF2	WNT4	HLA-DQB1	TRAIP	TTC37	SF3B4	NIPAL4	NDUFS1	B3GLCT	PEX1	PYCR1	LORICRIN	IQSEC2	PERP	HRURF	OGT	FTL	CWC27	WDR81	SMAD4	IL7R	ALX4	SRCAP	NDUFA13	RAG2	KANSL1	ITGB6	ROR2	KRT5	KDM1A	RPS23	ALDH18A1	POLR1C	LAMC2	TRIO	HLA-DRA	SDCCAG8	GPC4	COX5A	RAG1	MMP2	IFT27	NDUFS2	CANT1	MT-TH	ARHGAP31	SPP1	ATR	CD28	FOXRED1	NFKB2	SURF1	PADI3	IFT74	USP8	GTF2E2	NFIX	ALOX12B	NEK1	FOXE1	PHGDH	CAVIN1	SLC25A24	PACS2	LRPPRC	KDM5C	WAC	TBCK	NAGLU	FUT8	BNC1	SLC1A4	AIMP2	MRAS	HNRNPU	SOX10	SUCLA2	MTX2	TNFRSF1B	NDUFS4	ARID1A	HPGD	TRAF6	BRCA1	NF1	FOXN1	IKBKG	TASP1	NEPRO	UQCC2	POR	MT-CO2	PRDM16	PRKAR1A	SMARCE1	KCTD1	PIGN	NXN	HPD	CWF19L1	NDUFAF3	DVL1	AKT1	MAP1B	EDN3	NDUFS8	TACR3	ASXL1	VAMP7	RERE	SPIDR	KRT81	NR0B1	SMARCA2	USB1	USP9X	DOLK	NDUFA9	SMARCD2	SLC27A4	PRR12	BICRA	SPRED2	SMPD4	SLC39A4	MAPRE2	ERCC5	SMARCC2	HFE	NFKB1	NR3C1	SDR9C7	VPS13B	ABHD5	BLM	DMXL2	KDF1	TBC1D20	RPL21	ZBTB20	CDK10	LRP1	FOXP3	GNA14	STAT4	TCOF1	SPINK5	DLX3	CDKL5	BMP2	COL11A1	FLII	MGP	KISS1R	SPOP	MAF	WNT5A	PIK3CD	CDSN	CYP4F22	CKAP2L	CYP11B1	CFAP418	NDUFS7	TRPS1	PDHA1	PEPD	TAC3	ARSB	PAPSS2	BTK	PNPLA1	BSCL2	PSMD12	DLK1	NDUFA2	MDM2	WBP11	CEP57	MT-ND4	LTBP3	KCNMA1	AEBP1	PQBP1	AMMECR1	PPOX	MBD5	EOGT	MOGS	STING1	ARID2	TRIM8	XRCC4	HLA-B	IFT172	SOX9	ZNF341	BTNL2	FSHB	CNOT2	KCNK4	VPS33A	KANK2	PSMB8	NDUFAF5	HMGA2	VAC14	LPAR6	BBS9	KMT2D	POP1	CHRNA7	UBE4B	SLC30A2	WRN	EPS8L3	GLI1	CDH11	RNF125	CCDC141	NDUFV1	TAF6	DPAGT1	BBS1	DDB1	NSD1	ZNF699	MED13	CHMP1A	BCL11B	FZD2	SOX4	LIPH	SETD2	SHOC2	TGM3	NANS	B3GALT6	KLHL24	NBN	CHSY1	MMP23B	POLR3A	GUSB	SLC7A7	EXT1	P4HA2	ZNF407	GTF2H5	EVC	VPS37A	GNB2	WDR19	ACD	PROKR2	PTDSS1	CST6	CSTB	SRA1	NSDHL	IL1RAPL1	RBBP8	FAM111B	RASA2	DSC3	ADNP	ALX1	GNS	NDUFAF6	CTNND1	BBS12	STAG1	NDUFS3	DPH1	CCDC47	GATA4	IL2RG	MAP2K2	POLR3H	NECTIN4	FAT4	BBS4	SDHA	DPF2	SOX6	ATRIP	CDON	LIPT1	CERS3	MTFMT	PUF60	DNMT3A	CASZ1	ADAMTS2	POLR1B	ARL3	NUS1	KRT16	ITGA3	LZTR1	PCNT	RHOA	PRKCD	ATP6V1E1	PPP2R3C	MED12	LUZP1	BANF1	TRMT10A	IFT52	TBX15	SULT2B1	HOXC13	IPO8	PEX6	EZH2	CSNK2A1	ZNF711	MEN1	DHX37	CARS1	GABRD	SKI	WRAP53	MMP14	CYP19A1	PPP1R21	NPHP1	COG7	EIF5A	IDS	RBPJ	SMCHD1	EDA2R	CAPN15	MT-TQ	SLITRK1	AXIN2
HP_WHITE_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WHITE_HAIR	USB1	PAX3	MYO5A	DKC1	MC1R	TYR	TERC	NHP2	TINF2	NOP10	WRAP53	PARN	OCA2	TGM3	NPM1	TERT	RTEL1	CTC1	PADI3	GNPTAB	SLC45A2
HP_PATCHY_HYPOPIGMENTATION_OF_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PATCHY_HYPOPIGMENTATION_OF_HAIR	SNAI2	KITLG	SOX10	MITF	TYR	KIT	FAS	WRN	EDNRB	PAX3	LMNA	SALL4	EDN3	TMCO1	PTPN22	MAFB	TFAP2A	CHN1	PEPD
HP_RECURRENT_CUTANEOUS_FUNGAL_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_CUTANEOUS_FUNGAL_INFECTIONS	CIITA	AIRE	TFRC	IL2RG	CARD9	ZAP70	GJB2	STAT1	CD3E	STAT3	RFX5	CDH23	WDR1	JAK3	DCLRE1C	RFXANK	EPG5	CD3D	IL2RA	CLEC7A	SREBF1	RFXAP	USP8	PIK3CD	AP3B1	CD247	ZNF341	IL17RA	IKBKB	KNSTRN	GJB6	MVK	IL17F	PGM3	CARMIL2	SP110
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	RASA2	SPRED2	FOXI1	SOX10	KCNJ10	GREB1L	SLC26A4	CHD7	RRAS	MRAS	NRAS	SOS2	SEMA3E	RIT1	RAF1	ESRP1	CBL	RRAS2	KRAS	SOS1	LZTR1	PTPN11	FGFR2
HP_APLASIA_OF_THE_SEMICIRCULAR_CANAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_SEMICIRCULAR_CANAL	RASA2	CHD7	RAF1	SPRED2	SOX10	CBL	RRAS2	KRAS	SOS1	RRAS	MRAS	LZTR1	NRAS	PTPN11	SOS2	SEMA3E	RIT1
HP_ABNORMALITY_OF_THE_INTERNAL_AUDITORY_CANAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_INTERNAL_AUDITORY_CANAL	GJB2	POU3F4	POLR1B	FGFR2	SALL4	ERF	SIX1	EYA1	TWIST1	PTEN	AKT1	OTX2	MAFB	FGFR3	CHN1	POLR1C	POLR1D	GJB6	TCOF1	PRRX1
HP_NARROW_INTERNAL_AUDITORY_CANAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_INTERNAL_AUDITORY_CANAL	POLR1B	FGFR2	SALL4	ERF	TWIST1	PTEN	AKT1	OTX2	MAFB	FGFR3	CHN1	POLR1C	POLR1D	TCOF1	PRRX1
HP_FUNCTIONAL_ABNORMALITY_OF_THE_INNER_EAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FUNCTIONAL_ABNORMALITY_OF_THE_INNER_EAR	RERE	NDE1	IL12A-AS1	CRYM	ACY1	SEM1	PROM1	IL12A	MYO9A	RYR2	ATP2B2	AGRN	TIMMDC1	TNNC1	MT-TE	ADCY1	RTTN	COL2A1	CACNA1A	CLCN4	AIFM1	MGAT2	RRAS	CDK5RAP2	TRPV3	LHFPL5	PMP22	RIT1	GATA3	MT-ND5	S1PR2	BCOR	PEX3	PAX3	CHCHD10	CHSY1	TGIF1	TRAPPC11	CCDC50	PNP	EYA4	DCAF17	TMPO	TECTA	EIF4H	CD164	ERCC3	SUCLA2	PEX7	PCDH15	SLC25A4	C1QBP	ERCC2	LRP2	ODC1	ERAP1	MT-TK	PRMT7	PDK3	TWIST1	CDON	SALL4	GRXCR2	DLST	PRDM16	FGF10	RPL10	FGFR1	RNF13	CASK	DMP1	MT-CO1	NEFL	GJB6	MT-ND1	MET	LRAT	SNAI2	HESX1	CRKL	MYH14	ATP6V0A4	ADK	LMNA	SLC7A14	NDUFAF3	PCARE	STAT4	TG	SERAC1	PEX5	GLYCTK	SIX1	SMC3	SEMA3E	GNRHR	RAC1	PSAP	PNPLA6	SQSTM1	SNX14	HGSNAT	PHYH	SOX2	PUS3	ERCC1	NLRP3	SBF2	NDUFS8	ELMOD3	CTNNB1	DNMT1	POLG	STIL	MT-TF	HS6ST1	CLCN3	GJB2	PEX6	SIX3	SPTBN1	KARS1	YAP1	FGF3	PRPS1	KCNE1	PIK3C2A	ALMS1	FAM20C	LHX3	GJA1	NDRG1	NDUFB10	NIPBL	PTCH1	JAG1	PEX12	DUSP6	NSMF	ZIC2	ZNF711	TARS1	ARSG	SLC19A2	CRX	DSPP	CLPP	FLI1	GBA2	DISP1	CD109	MT-TL1	MARS2	FGF8	METTL27	TRAPPC4	SOX10	RDH5	ARL6	PTRH2	CLCNKA	RPS6KA3	USP9X	PEX11B	FTO	PEX16	CDH23	VHL	GUCA1B	DHDDS	CEP250	PTPN22	DMD	ARNT2	CLDN14	IDS	MPL	CERKL	RP1L1	ENPP1	KDM6A	LONP1	RAD21	PLAA	DCC	KCNJ10	ATP1A3	NDUFAF4	ITGA2B	FAS	VPS4A	ELN	TBL1Y	SDHAF2	ATP6V1B2	MPZL2	MAN2B1	MT-TC	COL4A6	DES	PEX13	OTOA	KRAS	GALE	ARSA	SLC52A2	TNFRSF1A	MYBPC3	FBN1	PEX26	NDUFS7	FKBP6	BRD4	CREBBP	COL9A2	SOST	AGBL5	EIF3F	DGUOK	RAF1	SPATA5	GLIS3	RET	ERAL1	MYPN	CAT	GAS1	ERCC6	RRM2B	MITF	LRTOMT	COL13A1	BUD23	GMPPB	WFS1	WDR37	ZNF469	GTF2E2	SPATA5L1	PRCD	DNAJC30	MT-CYB	SDHB	ATP6AP1	GRXCR1	COL11A2	STX11	IDUA	DLL1	PDZD7	PEX14	IGBP1	ESPN	VPS37D	LOXL3	MYO7A	NLRP12	ERBB3	SGCD	EP300	SLC26A4	IARS2	C4A	ARL2BP	SCN1B	PIK3R1	PLS1	WNT10B	CIB2	XPA	MT-ND6	FLNA	KISS1	IARS1	HARS2	PROK2	FIP1L1	COL11A1	OTOGL	YARS1	USP27X	PRDM5	ALDH18A1	TMEM127	HNRNPK	ABCD1	ESRP1	GLA	SEMA4A	ZNF81	ACTB	CACNA1G	NAGA	MECP2	AFF4	KCNA1	CDK8	BRAF	MVK	RFC1	TAF1A	PRPF31	PRF1	EXOSC2	NOG	PTPN11	PEX1	NF1	PLN	MT-TW	NDUFB3	HDAC8	GREB1L	PRPF3	BSND	FGF17	LDB3	STAT3	NKX2-5	FIG4	IFT140	COCH	CYP7B1	FOXRED1	CTBP1	STAG2	MEGF8	RP1	FGFR2	UBR1	TFAP2A	LRP12	LIG3	DSG2	CEACAM16	TBX22	SLC12A2	ALG12	TBC1D24	PRKCZ	POU3F4	TMC1	TXNRD2	TPRN	COX16	ILDR1	BCS1L	FHL2	TECRL	FKBP14	WDR11	GLI2	NDUFAF2	FGFR3	LRP5	EDNRB	CCBE1	PEX2	ADGRV1	UBAC2	SLC4A11	PPCS	ADAMTSL1	TRPM4	EDN3	SLC1A3	DCDC2	TPM1	IFT88	DKK1	SYT2	FAM161A	SLC12A3	LHX4	TAFAZZIN	KCNAB2	ERCC8	PDE6A	PPP1R15B	CHAT	AP1B1	GNAS	KLHL7	XPNPEP3	DHX38	SLC39A14	PEX19	ACTC1	ACSL4	SELENOI	SOS1	TMEM126A	ROM1	VPS11	MYH7	MDH2	MT-CO3	SCN5A	ACTN2	NKX2-1	RDH12	SETBP1	PDPN	SHH	TDGF1	MAP3K7	PRPF6	CCR1	GGPS1	TMEM126B	TNFRSF11B	TSPAN7	DUOXA2	DNMT3B	GDF6	PDGFRB	MAPK1	NRAS	SOS2	MED12	ERCC4	TSPEAR	PRRT2	TRRAP	WHRN	USH1C	ASAH1	COL9A3	XPC	ZBTB16	SNRNP200	NODAL	IGF1	HSPG2	IL1RAPL1	POGZ	CPLX1	ARHGDIA	HSD17B4	NDUFS3	DDB2	SPEN	CAP2	NDUFB11	TWNK	SNAP29	VAMP1	GIPC3	KCNJ16	HSD17B10	COA8	SPTBN4	NMNAT1	PSEN2	DLX5	MT-TS2	NOTCH2NLC	NDUFS4	ASCL1	CLRN1	RBP3	KITLG	CNOT3	ANKH	PRPH2	SAG	STRC	TMEM132E	CISD2	ATXN3	TTN	BAZ1B	RFT1	RHO	SMCHD1	TP63	DUX4	COQ2	SDHC	EPRS1	HTRA2	ARX	BEST1	RRAS2	MERTK	EDC3	MRAS	ABCC9	MT-TV	ARID1B	ELMO2	CCND1	MT-ATP6	JAK2	MYO6	CNNM2	HLA-DRB1	NUMA1	GJC2	ERBB2	BTD	ZNF513	PNPLA8	COL9A1	CALM3	TYR	DUOX2	CACNB4	RP9	FSCN2	GSDME	CATSPER2	NARS2	TTC8	TAOK1	PEX10	AARS1	HACE1	GP1BB	MT-ND4	HAND2	PAX2	NDUFA11	C9orf72	RYR1	TBL1XR1	SLC35A2	FH	UPF3B	MYH6	TANGO2	STXBP2	ABHD12	USH1G	CD151	SREBF1	OTX2	GPSM2	NDUFV2	NDUFA6	TK2	ROBO3	GRHL2	PTCHD1	TULP1	ITGA2	SDHA	EPG5	MFN2	FITM2	CRB1	SLC5A5	SEMA3C	CLIP2	TCAP	CBL	SDHD	GTF2IRD1	GATAD1	LAMA4	DVL1	NUBPL	GPC4	HCFC1	PERP	SLC26A5	HOXA2	OPA1	PPIP5K2	GIPC1	GBA	DIAPH1	BAG3	DNM1L	HAX1	RBM8A	NEXN	KIZ	MT-ND3	NDUFV1	FXN	GTF2I	NEK2	KYNU	CTLA4	NCF1	ARSL	SLC25A11	TIMM8A	EBP	SH2B3	RIPOR2	NPPA	GAB1	SUCLG1	MYH9	HLA-B	IMPG1	MPLKIP	CALM2	TOP3A	SLC25A1	AP3D1	GALK1	EYA1	FIBP	MT-TH	ZMPSTE24	DNMT3A	NDNF	NF2	NDUFS6	FOXH1	SLC44A4	MYCN	CHD7	SLC29A3	NDUFAF1	POMGNT1	NABP1	ADA2	MT-TP	NEU1	MT-TI	ATG7	KCNQ1	CLCNKB	AAAS	NDUFS1	REEP6	HOXA11	REST	TBCK	FKTN	EFNB1	SGPL1	ESRRB	ZEB2	ARHGEF6	ABCA4	BCL7B	NRTN	FOXC1	NDP	TRNT1	IQSEC2	HLA-DPA1	NDUFS2	IYD	KCNN3	ATP1A2	SPATA7	MYH11	POLD1	MYL2	MT-CO2	FLRT3	ATRX	PIGV	KIF1B	GFER	FRG1	HARS1	GDNF	MYO15A	OSBPL2	POU1F1	PROKR2	SCN1A	JUP	HOXB1	USH2A	MAP3K20	BBS2	NSD2	CSPP1	UBA1	ACTG1	FAT4	GATA2	SMC1A	MYD88	CNGB1	TACR3	ZNF408	CA4	TLR4	DNASE1L3	RFC2	PDE6G	MICOS13	TET2	SPNS2	DLG3	SMO	PNPLA2	PML	BICRA	SPRED2	GCDH	SLC5A7	IRX5	PDGFB	IMPG2	TRDN	RGR	ERCC5	CDHR1	TNNT2	FUS	VPS13B	SCAPER	HGF	CEP78	PHEX	ABHD5	P2RX2	CCDC141	FRMPD4	RLBP1	OTOF	RAB39B	ALG11	OFD1	EYS	PRPF8	POMK	CSRP3	PCNT	MRPS28	PTPRQ	KCNH1	KISS1R	ARHGEF18	IFNGR1	AGTR2	MAF	RBMX	CALM1	BTRC	ZIC1	GLI3	TUB	LMX1B	SALL1	PRTN3	RDX	COG5	IFT172	PDE6B	COL4A3	WAC	AIP	CLDN9	HOMER2	HLA-DPB1	CASQ2	ROR1	ABCC1	TAC3	FOXI1	BTK	CLRN2	SURF1	ACOX1	UNC13D	NPM1	DNAJC3	RNASET2	PUS7	IL23R	CFAP418	MT-TQ	DIABLO	DSP	PRKDC	PAK3	BMP4	ACVR1	SARDH	AMMECR1	GNPTAB	NOTCH3	MARVELD2	MOGS	MLXIPL	NDUFA1	NDUFB9	SPTLC1	LRP4	NDUFAF5	XRCC4	GCGR	CNOT1	FLNB	ABCC6	ZNF41	PNPT1	NOP56	NR2E3	GDI1	RP2	LIMK1	SPRY4	PISD	FTSJ1	GDF5	TYMP	MPZ	IMPDH1	PGM3	PROP1	TRPV4	STAT5B	GYG1	CRYAB	MYO3A	MBTPS2	SIX6	MPEG1	TNNI3	LARS2	FEZF1	SGMS2	UBE4B	DMXL2	HDAC4	CLIC5	EPS15L1	SLC9A7	AHR	SNAP25	NDUFAF8	CDH11	CDC42	TMPRSS3	CNKSR2	FAR1	TMEM38B	MPDZ	ZNF699	MT-ND2	MEOX1	BCAP31	MRPS2	LOXHD1	IDH3B	MEFV	MIR96	PRKAR1A	SEMA3A	EGF	DIAPH3	ATP6V1B1	ITGB3	TUBB3	MMP23B	ECE1	HAAO	SOX3	GUSB	SYP	MIA3	RPE65	XYLT2	P4HA2	IL17RD	GTF2H5	NRL	ANOS1	IDH3A	PORCN	PTDSS1	COL27A1	TBL2	LARS1	EPOR	TOPORS	MAFB	CHN1	ANKRD1	VCP	SEMA3D	RASA2	SMPX	MT-RNR1	DHCR7	DCHS1	HOXA1	GRAP	B3GALT6	GJB3	FGFRL1	ACO2	MECOM	THOC2	SCN2A	TARDBP	TPM2	RARA	TMEM270	PJVK	IL10	PAX1	GUCY2D	SOX6	SCD5	ATP7A	SUMF1	DOLK	MID2	STX1A	RBM20	GP1BA	MAK	KIF7	KIAA1549	THPO	PSEN1	RAB23	COL3A1	RPGR	ARL3	RNF113A	COL4A5	SLC18A3	HS2ST1	CASZ1	FAM149B1	CNGA1	ALG13	GNRH1	STEEP1	MT-TN	LZTR1	TBK1	SLC17A8	BCR	GTF2IRD2	GMPPA	SH2B1	BEAN1	LETM1	VCL	MAP2K1	KMT2D	PPP2R3C	LUZP1	RPS28	SYNE4	TPO	TRMT10A	MAX	MCM2	DBH	SH3TC2	KLRC4	IRF2BP2	LMNB1	AP1S2	TPK1	MEN1	COQ6	GABRD	SKI	PRPF4	DAB1	COX10	GJB1	EPAS1	SLC52A3	DLX6	DNAJC19	DHX16	PHOX2B	AHI1	TRIOBP
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	DARS2	ATXN1	SETX	FAR1	ABCD1	ALDH18A1
HP_ABNORMAL_CNS_MYELINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CNS_MYELINATION	RERE	SLC12A5	NDUFB3	YRDC	NDUFA1	SPATA5	YIF1B	ALS2	NDUFB9	ABAT	NDUFAF5	TRIM8	NDUFA13	BCAS3	ALG8	HTRA1	FRMPD4	ALG14	RNASEH2A	KIDINS220	NDUFV1	SUMF1	L2HGDH	TBCD	BOLA3	HSPD1	GPT2	PNPT1	SCO2	FOXRED1	CTSK	SURF1	DDOST	MT-ND3	KDM1A	ATP6V1A	PYCR2	KARS1	PEX19	PIGW	NUP188	ERCC3	EXOSC5	NDUFA10	ZMIZ1	MORC2	TTC26	HSD17B4	MPLKIP	INSR	PEX7	PHGDH	GRIK2	NDUFS2	POLR1C	LIAS	ISCA2	HIKESHI	POLR3A	PEX13	NDUFS6	GALC	CYP27A1	LMX1B	RNF13	NDUFAF1	PIGL	GTF2E2	PHACTR1	TNPO2	CUL3	SMPD1	NDUFAF2	NDUFAF8	MADD	NADK2	PRF1	VPS33A	SHPK	EDNRB	FA2H	NDUFAF3	RNASEH2C	POLR3B	FOXP1	PLP1	DPAGT1	PGM3	NDUFS1	PEX1	IFIH1	PURA	TACO1	RAB3GAP1	CTNNB1	RNU7-1	MT-ND2	EIF2B2	BCAP31	ERCC1	AP3D1	LRPPRC	PSAP	SLC35A2	MCOLN1	INTU	GLRX5	RNASEH2B	EIF2AK2	UPB1	ERCC8	FAR1	NDUFS8	SLC1A4	PPP1R15B	AIMP2	POU3F3	SPTAN1	ZNF335	SHANK3	DARS2	SLC33A1	PIGV	NDUFS4	SMG9	CLCN3	TRNT1	VPS11	NCDN	PET100	TKFC	IBA57	FANCB	PIGS	SPTBN1	DHX37	DDX6	CTC1	ACBD5	ITPA	MMACHC	GAN	FUS	PRPS1	NUBPL	TRAPPC11	GJC2	NDUFB10	WDR26	TUBB4A	D2HGDH	RMND1	GTF2H5	MTHFS	STXBP1	NDUFB8	TARS1	TMEM126B	POGZ	GNB2	GABRA5	ATXN2	MTTP	ARID1B	GTPBP3	TMEM240	DALRD3	TIMMDC1	TMEM63A	ERCC2	TMEM106B	PIGG	ALDH7A1	ACER3	SOX10	NKX6-2	ALG9	ACTL6B	SP110	SAMHD1	EXOC2	TIMM22	QARS1	PKDCC	EIF2B1	EIF2B4	TGFB1	EXOSC1	HEXB	ADAT3	SPTLC1	ADGRG1	SIGMAR1	GABRA2	NDUFAF6	COX14	NDUFV2	POLR2A	NDUFS3	ADAR	NDUFA4	FBXL4	DYRK1A	NDUFAF4	COX6B1	NDUFB11	PTEN	PLEKHG2	SDHA	EXOC8	GRM7	AIFM1	NMNAT1	PC	ARSA	SNORD118	NDUFA9	TREM2	EIF2B5	PGAP3	UGDH	ACY1	CNOT3	NDUFS7	CSF1R	ISCA1	SMPD4	BMP4	CLDN11	AARS1	ATP6AP2	CDK19	CDC40	AHCY	LIPT1	PGAP2	PDCD1	NRROS	SNIP1	MTFMT	RNF113A	ERCC6	EPRS1	HS2ST1	CNTNAP1	FAM126A	LMNB1	SLC25A12	TXN2	NDUFA12	IDUA	ADARB1	ALDH3A2	MAT1A	ABCD1	SPG11	PLPBP	DARS1	SLC13A5	HLA-DRB1	CLTCL1	PIGO	SLC16A2	CYB5R3	GLUL	TAOK1	RARS1	TRMT10A	NDUFA11	MED27	TNR	SDHB	GAA	PDHA1	MMUT	ADSL	PEX16	PIGU	TBC1D24	NARS1	PGAP1	NDUFA6	DAG1	PDYN	ACOX1	TREX1	PPIL1	ASPA	GFAP	CARS1	NDUFA2	TUFM	ALDH5A1	RNASET2	ECHS1	AIMP1	PIGY	MT-ND1	SETD1A	LEMD2	EIF2B3	PRKDC	COA8	CYB5A	HLA-DQB1	GDAP1	SLC19A3	RBM8A	COX15	ALG2	NARS2	MLYCD	ZC4H2	C2orf69	PARS2
HP_PROPORTIONATE_TALL_STATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROPORTIONATE_TALL_STATURE	CAVIN1	MEN1	PPARG	CDKN2C	DNMT3A	BSCL2	FOS	FIBP	NF1	CDKN2B	CDKN1B	CDKN1A	CAV1	AIP	AGPAT2
HP_ABNORMAL_PLACENTAL_MEMBRANE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PLACENTAL_MEMBRANE_MORPHOLOGY	GJB2	POMP	TBC1D24	SMARCAD1	GJA1	ATP6V1B2	GLE1	LORICRIN	TP63	FERMT1
HP_CAESARIAN_SECTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAESARIAN_SECTION	TAOK1	ASXL3	PTCD3	OPA1	CYP11B2	CYP11B1	TAF1	SATB1	MCM4	POLR3A	CACNA1D
HP_PLACENTAL_ABRUPTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PLACENTAL_ABRUPTION	FANCF	CD46	CFH	CFI	HELLPAR
HP_DEATH_IN_ADOLESCENCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEATH_IN_ADOLESCENCE	PET100	COX8A	DSP	MADD	PSMB8	EXOC8	SATB1
HP_ABNORMAL_BLOOD_CHLORIDE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_CHLORIDE_CONCENTRATION	CLCNKB	SLC26A3	MAGED2	KLHL3	CLCNKA	KCNJ1	BSND	SLC12A1	CUL3	WNK1	WNK4
HP_FETAL_ULTRASOUND_SOFT_MARKER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FETAL_ULTRASOUND_SOFT_MARKER	RASA2	PEX1	TREM2	MYL9	BNC2	TBCK	GATA6	RRAS	NRAS	KANSL1	PEX11B	GRN	MCTP2	RIT1	ENPP1	TBC1D24	PEX3	HSPG2	RAF1	CHMP2B	FOXF1	VCP	KRAS	PEX10	PEX13	HNRNPK	PIGW	QRICH1	OFD1	PEX5	PGAP3	FGF13	PEX26	C9orf72	SPRED2	SCARF2	PIGY	PGAP2	MAPT	PACS1	PIGL	FANCB	HOXD13	RRAS2	LBR	SLC26A2	ZNF699	LZTR1	PEX14	CCDC22	ABCC6	PSEN1	TMEM106B	EFNB1	PIGO	POR	MRAS	TAPT1	FANCF	PIGV	PEX2	HRAS	WASHC5	CLCN3	PEX6	PEX19	ALG9	SLC35A2	SOS1	DDX6	EBP	PEX12	PSAT1	GNB2	DPYSL5	SOS2	SQSTM1	GATA1	MKS1	WNT3	CBL	TRIP11	PIGN	WT1	PEX16	RNU4ATAC	ATP6V1B2	TRAF7	PTPN11
HP_ABNORMALITY_OF_COORDINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_COORDINATION	LMNB2	MYO5A	NOTCH2NLC	IL12A	AGRN	TIMMDC1	PYROXD1	LZTFL1	SLC2A1	ABCD1	OPA3	MT-ND1	FLVCR1	CHCHD10	CEP41	RAB11B	ATXN1	FAM149B1	PAK1	TGFB1	MICOS13	ERCC3	EXOSC5	NDUFA10	PEX7	CRAT	MAB21L1	GTPBP2	TUBG1	TWNK	MT-TK	SMARCE1	MT-ATP6	TBCD	TECPR2	NEFL	COLQ	TRAF7	CHP1	ASAH1	POLR1C	TAF1	POLG	PRF1	STAT4	RIMS2	TERT	PEX5	CTNNA2	PLP1	SYNJ1	ARV1	CIITA	SDHD	TPM3	GLRX5	SQSTM1	MVK	PSEN1	TIA1	NTN1	MT-ND6	CAV1	PHYH	TXN2	MEG3	ERCC5	NDUFS8	SGCG	ATP1A2	MED13L	RTN2	PDGFB	CAV3	PSAP	PET100	ATP1A3	PIBF1	LYST	TCF20	PPP2R2B	TRAPPC11	GJC2	GRID2	UBA5	DUSP6	NDUFAF2	RTL1	TARS1	POLG2	REPS1	NPHP1	DEGS1	SYT1	GBA2	FGF8	MT-CO3	SOX10	MOG	PTRH2	NKX6-2	VAMP1	TCTN2	USF3	ALDH18A1	PRNP	PIK3CA	KCNA1	SLC44A1	ETHE1	SPEN	VWA3B	SCN1A	DAB1	AUH	PLA2G6	PNPLA6	PEX11B	DCC	NDUFAF4	SNRPN	FMR1	FKTN	NUP214	OFD1	MYPN	ATAD3A	ARSA	KIT	OCA2	GAMT	CEP104	UBE3A	KIF1A	RUBCN	HIBCH	ROGDI	ERCC6	MICU1	PEX6	HCN1	ATP5MK	FKRP	MAGEL2	COL13A1	KLLN	BUD23	NPHP3	PMM2	DPAGT1	ALG6	DNAJC30	SPTB	SCN9A	TCN2	PNKP	WDR19	VPS13A	TUBA1A	KLHL41	SCN1B	AASS	SLC16A2	RAI1	RNASEH1	ARL13B	SDCCAG8	PIGT	COL18A1	ERCC8	PDHA1	FGF12	SPAST	CSPP1	SLC1A3	MT-TE	XPA	FRMD4A	CXCR4	ACTA1	EP300	PEX13	ADGRG1	NECAP1	GPHN	CLTC	PTEN	TELO2	PROK2	DOCK3	COG8	HPDL	RNF216	CACNA1G	SLC19A3	CACNA1A	PYCR2	PIGK	IQCB1	BMP15	MKS1	HTRA1	VLDLR	ABCA7	WASHC5	TSHB	KCTD7	SLC6A5	PIGG	ATG5	CYP7B1	SCO2	CEP164	FOXRED1	DLAT	CC2D2A	GSN	LRP12	ATN1	MT-TW	NUP62	KIF1C	TMEM216	JAM2	HIKESHI	SDHA	MT-ND5	CDKL5	GABRA2	CYP27A1	SOD1	PIGL	DNAJC13	FOXP2	EDNRB	TPP1	TACO1	GABRB1	ATXN2	ARG1	SYT2	MME	PITRM1	TRPC3	MT-CO1	MAG	CP	SYNGAP1	SMARCB1	PPP1R15B	PRDM8	TANC2	MSTO1	CAPN3	NKX2-1	CPLANE1	SUFU	B9D1	KCNJ10	SLC30A9	SCN2A	NUP107	ELP1	MPZ	ZNF592	ERCC4	LONP1	COQ2	KCNA2	XPC	APOB	MT-TF	TBC1D2B	DLL1	NEB	NDUFS3	PIK3R5	NDUFB11	SNAP29	TMEM107	FGF17	GNB5	CA8	MT-TS2	GMPPB	UBAP1	GRN	KATNIP	PGAP3	NIPA2	MYORG	KIF7	BAZ1B	ATM	RFT1	NEU1	SLC19A2	KCNC3	DCX	RNF168	ERMARD	ABCC8	GALC	PANK2	ACOX1	MT-TV	ATP13A2	BSCL2	HLA-DRB1	BTD	PDE6D	HYLS1	DKC1	ATP7B	POMT1	RTN4IP1	OPA1	CACNB4	ABCB7	WDR81	PMP2	PDHB	RPGRIP1L	GBA	NUTM2B-AS1	NDUFA11	ARL3	POU4F1	B4GALNT1	TANGO2	HLCS	ADSL	ABHD12	PEX16	TINF2	HLA-DQB1	SLC25A15	FUZ	NDUFV2	NDUFA6	ESPN	PDYN	AAAS	NDUFS1	PCDH15	ERCC2	CLIP2	DHDDS	PRKCG	CLN6	FAS	GTF2IRD1	TRAPPC6B	TREM2	TMEM67	ATXN10	CCDC88C	RAD50	DALRD3	SACS	COA7	MPV17	ALS2	SLC6A19	SEMA6B	POLR3K	TTPA	CWF19L1	HK1	MT-CYB	FRMPD4	ITPR1	MT-ND3	NDUFV1	FXN	GTF2I	ABCA2	ATXN3	NTRK2	AHDC1	ACAT1	SZT2	WFS1	AP2M1	BAP1	HLA-B	NHLRC1	MPLKIP	SLC25A1	LETM1	DLK1	MAN1B1	MT-TH	MTRFR	NF2	TMEM240	DNAJC19	SURF1	NDUFAF1	MT-ND4L	GALT	PAFAH1B1	MYO7A	FA2H	TSFM	ADGRV1	KIF1B	DLD	PLEC	OGDH	NTNG1	ZEB2	IRF2BPL	WDR73	NDUFS4	GABRG2	CHD7	AFG3L2	LYRM7	C19orf12	NPHP4	MKRN3	WDR26	ATP10A	SLC25A4	GJA1	TH	SUOX	MT-CO2	HARS1	FLRT3	POGZ	CEP120	ARID1B	SPTA1	POU3F4	NDUFAF3	CTSH	COL6A2	TUBB4A	PDE2A	CAMTA1	ALG14	TDP1	HEXB	SNCA	SPTLC1	DHFR	SPIDR	NDUFS2	ALG13	TLR4	SIL1	LNPK	EEF1A2	ERBB3	PRPS1	WWOX	TDP2	SLC25A46	SIM1	SGCA	KIAA0753	ATP8A2	ELN	RFX5	PGAP2	FUS	ABHD5	CCDC141	PDE10A	ELOVL4	SIK1	ANO10	ZBTB11	NONO	PI4KA	RFXAP	PODXL	GRM7	GBE1	GLRA1	CLTRN	SCYL1	VPS13D	IFNGR1	PMPCA	VPS41	LAGE3	RRM2B	ITM2B	SAMD9L	GRIA2	DNM1	PIK3CD	HCRT	EIF4G1	GJB1	RDH11	MTTP	SLC13A5	SATB1	DNAJC3	GABRB3	RNASET2	SCN8A	SDHAF1	IL23R	MT-TQ	PURA	SETX	AFF2	FTL	BCS1L	PRRT2	NAT8L	AP3B2	SARDH	NFIX	LAMA1	MLXIPL	NDUFB9	ZNF365	NEUROD2	ALG8	XRCC4	DNAJC6	SRPX2	GRM1	NOP56	RNU12	TACR3	BEAN1	UQCRQ	NDUFAF5	PGM3	UROC1	SLC7A6OS	HADHB	MT-TL1	ELOVL5	NUS1	PDE8B	STN1	NSD2	SLC35A1	ARCN1	SLC20A2	KIF5A	SNAP25	NDUFAF8	NEMF	RAD51	HUWE1	APP	DARS2	BBS1	AKT1	MT-ND2	MTPAP	LAMB2	ATXN8OS	UBTF	PIGV	FHL1	POLR3B	CTC1	TBC1D23	GDAP1	NUBPL	DMXL2	TMEM237	GTF2H5	PMPCB	ACD	SLC13A3	ASS1	SPG7	ADPRS	SPR	SEC23B	TRIM8	CRPPA	NDUFAF6	FBXL4	DYRK1A	TARDBP	TGM6	PCNA	PUM1	RIPK4	PPP2R5D	INPP5E	HESX1	CLN5	CBY1	SETD2	CNTNAP2	STX1A	ATP6V1A	ATP6AP2	LIPT1	ATL1	SFXN4	TRAK1	CLCNKB	ADAR	MTFMT	MTHFR	TMEM70	HINT1	SLC9A6	CAPN1	NGLY1	TBK1	SPTBN2	GTF2IRD2	DARS1	CIB2	GMPPA	GPI	PIGO	ABCA5	CLCN4	SH3TC2	KLRC4	EZH2	TTR	LMNB1	SHMT2	PLEKHG4	CARS1	CLRN1	FGF14	SPRY4	PPP1R21	DNMT1	SLC25A22	ATPAF2	CPS1	TBP	PRODH	IL12A-AS1	MECP2	MYO9A	RTEL1	EED	SLC9A1	BRAT1	CCDC28B	NDN	STUB1	PDX1	TAT	SUMF1	PLD3	PNP	GABRA1	EIF4H	PIGW	DNAL4	ATP2B3	GCK	ERAP1	CTSD	POLR3A	HTT	EBF3	ASL	RPL10	ACOX2	SLC18A2	GLS	SNAI2	MTR	GOSR2	SNX14	DBT	TPRKB	SRD5A3	MT-ATP8	SBF2	CPLX1	SLC46A1	GFPT1	SDHC	HS6ST1	TOMM40	SPTBN1	KNSTRN	CHAMP1	CSTB	ALMS1	MMACHC	NDUFB10	MRE11	PSMC3IP	NAXD	GLB1	MRPL12	GABRD	MARS2	TMEM63A	METTL27	NPAP1	SYT14	GABRB2	NPC2	CREBBP	PGK1	SCARB2	FASTKD2	DYNC1H1	PTPN22	PDHX	GCH1	NDUFA4	ATXN7	VPS4A	OXR1	SLC1A2	APC	MAN2B1	DHX30	AARS1	SNORD118	PTS	SLC4A1	SLC52A2	ATAD1	NDUFS7	FKBP6	NSD1	KCND3	ACTL6B	PDCD1	ZFYVE26	PEX10	NDUFA12	SLC25A42	VPS37D	PEX14	GRIN2A	VWA1	C4A	GABRA5	RARS1	UCHL1	TNFSF4	STIM1	TCF4	SNORD115-1	CDH23	CNKSR2	PARS2	TMEM138	TTN	ANK1	YWHAE	ECHS1	AHI1	COG4	SLC30A10	GABBR2	ADA2	COX15	RFC1	AIFM1	EEF2	NDUFB3	KDM4B	PEX1	PIEZO2	PCDH19	CHD2	TBC1D24	MMADHC	KBTBD13	CEP290	NIPA1	VPS51	THG1L	DCHS1	WARS2	CTDP1	PAX6	GPAA1	GLRB	TNPO2	LRRK2	NEXMIF	CUL4B	PEX2	PARN	UBAC2	TTBK2	AP5Z1	DKK1	HLA-DQA1	CHAT	ARL6	PIGQ	COL6A3	SLC6A1	PIGS	FDXR	ACBD5	HEPACAM	ARX	HERC1	CCR1	KCNC1	NDUFB8	TMEM126B	BCKDHB	FSHR	TMEM106B	MRPS22	TTC19	SLC22A5	ARSG	APC2	HSD17B4	EPB42	SMPD1	AMACR	DDB2	CELF2	ZNF423	WHRN	COA8	SDHB	VCP	NMNAT1	PEX12	CTSF	VRK1	MAPT	CLN8	MPDU1	COL12A1	GSS	RFXANK	L1CAM	EPRS1	INPP5K	ARHGEF2	TCTN3	FRRS1L	YWHAG	PNPLA8	HERC2	RPIA	PEX3	HACE1	P2RY11	MT-ND4	C9orf72	COX20	SPG11	RYR1	MBD5	RORA	FGF13	ANOS1	SLC35C1	TMEM231	USH1G	PEX26	ALG11	SYNE1	GFAP	PDGFRB	MFN2	SPART	SMAD4	NAXE	NDUFA13	DPM1	DNM1L	HAX1	INS	NCF1	ALG2	SCN3A	MAPK8IP3	BCKDHA	NELFA	TRIO	SET	TOP3A	GRIK2	CTBP1	NDNF	NDUFS6	MLC1	GTF2E2	MT-TP	MT-TI	EIF2S3	COG5	ATG7	LARGE1	GNAO1	GCLC	NADK2	LRPPRC	PRICKLE1	BNC1	EIF2AK2	IQSEC1	SGPL1	SUCLA2	APTX	BCL7B	KCNB1	TRNT1	FIG4	TOPORS	IFT140	SMC1A	TSPOAP1	OTC	NARS1	SARS1	KIAA0586	USH2A	NR5A1	HMGCL	GRIN2D	MYD88	TPM2	ACADM	SIGMAR1	CISD2	DNASE1L3	RFC2	SLC17A5	ALDH5A1	NDUFA9	PROKR2	GCDH	PPT1	SLC5A7	FGFR1	MCOLN1	ATCAY	COQ5	MFSD8	BMPR1B	TK2	NFASC	SLC39A4	SLC2A3	CYFIP2	HNRNPH2	SLC26A4	CASK	GIGYF2	BSND	DGUOK	PEX19	NDUFA2	COQ8A	OTUD6B	SNORD116-1	KCNMA1	XRCC1	WDR11	TERC	NDUFA1	PSEN2	HSD17B10	IRF4	STAT3	PMP22	IFRD1	KCNQ2	BOLA3	GDAP2	HADHA	LIMK1	KARS1	MECR	LARS2	FEZF1	TCTN1	CSF1R	SMO	TBCE	CDC42	ZNF142	RNF125	COL6A1	CDK19	C12orf4	ERCC1	DEAF1	NOL3	MEFV	PDP1	SEMA3A	ADSS1	EPM2A	NANS	GEMIN5	MAST1	SLC6A8	TUBB3	CLCN2	P4HA2	IL17RD	CACNA1B	SLC12A3	TBL2	NEFH	SORL1	PWAR1	DYM	TUBB2B	TUBB	MT-RNR1	ACO2	FAT4	OPHN1	COX6B1	LMBRD1	TMEM270	POLR3H	IL10	ATP6V0A2	INVS	FAT2	NAGS	PPP3CA	RNF113A	SLC18A3	AARS2	HIC1	USH1C	CEP78	MT-TN	NF1	ARMC9	YME1L1	NPC1	CACNA2D2	PWRN1	VPS35	AGTPBP1	VARS2	POMT2	FOXI1	AP1S2	STX1B	TPK1	DNAJC5	DPYSL5	PIGY	PAK3	COX10	PIGP	TRAF3IP1	KCNJ11	SLC52A3	PDZD7	STARD7	CLCNKA
HP_ANKLE_CLONUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANKLE_CLONUS	KIF1A	FGF13	SLC39A14	VCP	SELENOI	ABCD1	SLC16A2	ERLIN2	RAB18	PI4KA	REEP1	CARS1	STUB1	ATL1	HTT	FA2H	GFM2	SPART	ZFYVE27	SOD1	KIF5A	POU3F4	UCHL1	GALC	SAMD9L	ATP6AP2	CYP7B1	SPG11	TIMM8A	ADGRG1	ANO10	PIGT	SLC52A3	PSAP	SYNE1	SPAST	GBA2	RTN2	CAPN1
HP_KNEE_CLONUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KNEE_CLONUS	SLC52A3	KIF5A	SPG11	GBA2	RTN2	SPART
HP_PRIMARY_MICROCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMARY_MICROCEPHALY	SMC3	EOMES	NDE1	AFF3	YRDC	CLPB	PHGDH	TRAPPC12	SLC16A2	TBL1XR1	TSEN54	PSAT1	PIGH	TXN2	TELO2	SPOP	SLC1A4	PPP1R15B	SPATA5	GRIN2A	DISC1	RNF2	TBCD	VPS4A	ZEB2	EIF5A	RBBP8	LMNB2	TRMT10A	FRMD4A	TUBB3	NSF	RELN	FIG4	NUP188	COG7	TRIO	CTNNB1	MECP2	VAC14	KATNB1
HP_FUNCTIONAL_ABNORMALITY_OF_THE_MIDDLE_EAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FUNCTIONAL_ABNORMALITY_OF_THE_MIDDLE_EAR	HYDIN	PROM1	NTNG2	COMT	ZMIZ1	HOXA2	CCDC40	TRMT1	SRCAP	HAX1	KIZ	NEK2	ARSL	DNAAF2	SLC25A11	EYA1	DOCK3	ERF	ANKH	RPS23	MED27	HDAC4	FAM149B1	POLR1C	AMER1	PRRX1	IMPG1	ODAD4	LRRC56	UBB	ZMPSTE24	DNMT3A	TWIST1	CHRNG	RSPH1	SALL4	MYCN	DLST	FGF10	DNAI1	ACTL6B	POMGNT1	CHD7	DLG1	OFD1	NFIX	COL1A2	LRAT	EMC10	LMNA	SLC7A14	PCARE	DPYSL5	FRAS1	NEK1	REEP6	DNAH1	SMC3	SEMA3E	SLC25A24	PTPN23	TRIP12	CA2	DHODH	IRF6	GMNN	HGSNAT	RECQL4	OSTM1	FREM2	MAPK8IP3	POLR1D	NECTIN1	KCNMA1	ABCA4	SKI	MYH3	CFAP300	RSPH9	FBXW11	WDFY3	PIK3C2A	FGFR2	FAM20C	BPTF	GJA1	TNFRSF11A	SPATA7	TCF20	NIPBL	TOPORS	FLNA	ODAD3	POR	TELO2	PRDM16	KIF1B	CRX	ALX3	MSX1	BCORL1	RLIM	DNAJB13	GATA1	POU3F4	MAP3K7	GALNT2	BBS2	NSD2	ARL6	CCDC32	FAT4	SNRPB	FKBP14	MYT1L	SMC1A	VHL	GUCA1B	CNGB1	PTPN22	AIFM1	IDS	SPEN	CERKL	RP1L1	NOG	KDM6A	LONP1	RAD21	RERE	DNAH5	ZNF408	CA4	DDR2	DNAAF11	TBX1	SDHAF2	SLC12A2	SPAG1	ODAD1	PDE6G	UBR7	FGFR3	KMT2E	ADAMTS3	DNAAF4	KIAA0753	BRD4	CREBBP	COL2A1	GRIA4	IMPG2	NSD1	RGR	HPDL	AGBL5	CDHR1	STAC3	RET	RAI1	CCDC65	SCAPER	OTOF	ZNF469	SDHD	ZBTB20	PRCD	EYS	SDHB	PRPF8	TFAP2A	TCOF1	TCF7L2	PUS7	TMEM67	IGBP1	FLII	ARHGEF18	SYNCRIP	PIGL	DEAF1	EDN1	EP300	GAS2L2	TUB	AGO2	DHDDS	ARL2BP	IFT172	PDE6B	RNF2	ODAD2	NTNG1	TP63	POLR1B	SPTBN1	B3GLCT	PSMD12	CNOT3	FLNB	PRDM5	GJB2	TMEM127	HNRNPK	CFAP418	CPLANE1	GRIP1	KAT8	SEMA4A	SETD1A	TRPS1	GP1BB	GRHL3	SLITRK6	AFF4	ACVR1	PRPF31	CFAP221	AMMECR1	GNPTAB	NOTCH3	NF1	FGF9	ZMYND10	DRC1	HDAC8	USH2A	PRPF3	KDM4B	CNOT1	HLA-B	IFT140	ABCC6	CTBP1	MED13	CTSK	TTC12	NR2E3	TSHZ1	RP2	RP1	CLCN3	COL11A2	IMPDH1	CFAP298	TBX22	PGM3	PRKCZ	DCHS1	GAS8	SIX1	FANCI	DNAAF3	SGMS2	UBE4B	ARVCF	TNRC6B	AHR	CDH11	UFD1	CCBE1	SPEF2	ZNF699	TANC2	ARID2	MEOX1	IFT88	IDH3B	FAM161A	SC5D	DDX6	RSPH3	HIRA	BCAS3	MCIDAS	LRP5	KCNAB2	SETD2	PDE6A	MADD	KLHL7	PALS1	GDF5	BMP2	DHX38	ARHGAP29	FBN1	EDNRA	DIAPH3	PAX1	ACTL6A	ROM1	RPS26	MMP23B	GJB6	MDH2	RPE65	TXNL4A	DNAAF1	RDH12	EXT1	P4HA2	PDPN	PRPF6	GSC	GDF6	NRL	IDH3A	PORCN	SEC24C	MAN2B1	MASP1	SNRNP200	HS2ST1	DNAAF6	ANKRD17	APC2	HSPG2	B3GALT6	ALX1	CPLX1	FGFRL1	CTNND1	TMEM216	EFTUD2	SPECC1L	SATB1	STK36	DNAL1	CCDC39	CCNO	DLX4	NOTCH2NLC	HTT	RBP3	FOXJ1	PRPH2	SAG	TSR2	DNAAF5	RPGR	RSPH4A	MAK	KIAA1549	KIF7	DNAH9	RAB23	ARL3	RHO	BMP4	CDCA7	SDHC	ELMOD3	SOST	CASZ1	NOTCH2	TCTN3	ANKRD11	BEST1	CNGA1	MERTK	LMBRD2	DNAI2	ERCC8	ELMO2	ENPP1	JMJD1C	MPDU1	HLA-DRB1	SVBP	PCGF2	ZNF513	PDE6D	SH2B1	RP9	FSCN2	FANCF	TTC8	LETM1	KMT2D	CCDC103	LUZP1	RPS28	MAX	FH	WASF1	SLC35C1	CLRN1	NEK10	SF3B4	TULP1	ERCC6	GABRD	SDHA	PRPF4	HUWE1	CREB3L1	CDH1	CRB1	EIF5A	RLBP1	RREB1	IQSEC2	EPAS1	DNAH11	TRAPPC4	SMCHD1	NME8	DVL1	JARID2	AHI1
HP_LOSS_OF_EYELASHES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOSS_OF_EYELASHES	ZMPSTE24	UROS	LMNA	RNU4ATAC	UROD	GATA1
HP_ESOPHAGEAL_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ESOPHAGEAL_CARCINOMA	CTHRC1	ASCC1	RNF6	RHBDF2	WWOX	MSR1	STAT1	TGFBR2	APC	DCC	LZTS1	DLEC1
HP_FETAL_ONSET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FETAL_ONSET	MYH11	XYLT1	KIF5C	RPL10	DCC	RAD21	ACTG2	LMOD1	RIPK4	COX16	MKS1	PPP1CB	RNF2	FARSA	KIDINS220	SDHD	OBSL1	CHD7	GBA	ZIC2	KIF20A	KDELR2	KIAA0753	DEF6	FARSB	TOGARAM1	ATP1A2	RYR1	SOS1	MCM10	GUSB	SEMA3E	SYT2
HP_YOUNG_ADULT_ONSET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_YOUNG_ADULT_ONSET	RELN	MCM6	SLCO2A1	VPS11	TNFAIP3	RYR2	PRKAG2	CASR	PLG	SPTLC2	CATIP	LMF1	ICOS	ELMOD3	MEFV	CCDC39	CYLD	TLCD3B	TERB1	SPRY2	G6PD	GIPC1	PNLDC1	NPC1	COCH	VPS16	ATP1A3	TIE1	MAPT	SLC19A3	AOPEP	MAGT1	KNG1	LMNA	IL36RN	LYST	NOTCH2NLC	IKZF1	LMX1B	CD164	LRP12	SPAG17	PRKN	LGI1	SOCS1	GGCX	EIF2AK4	CASQ2	HJV	SLC7A6OS	SLC4A11	TECRL	HKDC1	VSX1	JAG2	PSAP	TRDN	TERB2	FBN1	ATL1	ALDH5A1	SLC37A4	HAMP	CPOX	TAF4B	XRCC2	ABCA4	ATP13A2	CEP78	EPAS1	MICAL1	TIA1	SH3BP2	IFT74	ACTG1	FBXO7	TNNI3	CASK
HP_CHILDHOOD_ONSET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHILDHOOD_ONSET	SAMD9	TPM2	TNFAIP3	PYROXD1	REL	PRNP	FCGR2A	PRKAG2	POLA1	DIAPH1	HAX1	FRG1	PLEKHM1	PMP22	G6PD	PET117	NLGN4X	NUP133	COPA	SLC19A3	LIMS2	NLRP3	RYR1	PRPS1	JAG1	PSMB8	CFB	CASQ2	CRB1	EMD	MMP2	PLCE1	SCN1A	KIRREL1	CTSD	TRDN	GABRG2	KCNB1	GDAP1	OCRL	CUBN	LAMA2	ABCA4	PROM1	PIK3CD	MECP2	MARS1	GPR101	AQP5	HPDL	NEMF	DEF6	TMPRSS3	ATP6V0A4	MS4A1	DDB1	SNRPN	DAAM2	ARG1	TACSTD2	RYR2	LACC1	DYNC1H1	CASR	SPTLC2	TPP2	PITRM1	STX11	GEMIN5	TRNT1	STAT3	FANCB	MEFV	PLEKHG5	XPC	IKZF1	CCT5	PHKG2	KIF3B	UPF3B	FECH	VPS37A	CYP3A4	NFKB2	FLG	TMEM240	HABP2	PLA2G6	SYNE1	PEPD	FGD4	SVIL	RPS29	CARMIL2	GIMAP5	CPA6	TGFB1	SMPX	AIRE	MCM6	TBC1D2B	TACO1	ALS2	CADM3	ITK	UFSP2	GCH1	ICOS	WT1	GNB2	CCDC39	STXBP2	PANK4	VPS16	ALAS2	ACP5	ACSL4	GUCY2D	CHD2	ASAH1	NLGN3	COL1A1	TTN	DPAGT1	COL1A2	SCN3A	REST	TIMM8A	CEP78	PLCG2	IMPG2	KDELR2	BAAT	PNKD	SH3BP2	COL6A2	SPATA5L1	DMD	CLCN1	PRKG2	ATP6AP1	CFTR	DARS1	CNP	MTX2	FLVCR1	EMC10	VPS41	RTN4IP1	DBR1	IDH3A	VWA1	IL21R	BANF1	SPG11	FCHO1	MTHFR	SETD1A	GJB2	IL36RN	CHRNA4	GON7	F13A1	SOCS1	PGAP1	TECRL	MARCHF6	ZNFX1	USP53	TBCE	AAAS	JAG2	NUS1	ZNF711	SYNE2	ALDH5A1	CD19	COL9A2	COA8	NDUFC2	IKBKB	F2	ADA2	ADGRV1	UNC45B	KIF12	NBEA	MYH7	SPART	CASK
HP_APLASIA_HYPOPLASIA_OF_THE_GALLBLADDER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_GALLBLADDER	SON	INTU	FOXF1	GATA6	RFX6	CNOT1	SPECC1L
HP_FACIAL_TICS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FACIAL_TICS	CACNA1A	SCN1A	SCN1B	GABRG2	PRRT2	SCN2A	SCN9A	PCDH19	GABRA1	KCNQ3	ATP1A2	KCNQ2
HP_NASAL_REGURGITATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NASAL_REGURGITATION	TUBB6	SLC18A3	VAMP1	TOP3A	SLC25A1	SNAP25	SYT2	MYO9A	AGRN	SLC5A7	COL13A1	GRHL3	UBB	CHAT
HP_NASOGASTRIC_TUBE_FEEDING_IN_INFANCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NASOGASTRIC_TUBE_FEEDING_IN_INFANCY	PUF60	COL2A1	SELENON	TPM2	COX8A	ITGA7	UNC80	TFG	NALCN	MYL2	CLTCL1	KANSL1	SNRPN	MAP3K20	DYRK1A	GFM2	EP300	HNRNPK	GALC	TPM3	CTCF	GPT2	PDE10A	HACD1	CREBBP	MT-TE	ACTA1	EDEM3	GRM7	PSAP	IDH1	BRAF	PIGT	SATB2	TRMU
HP_GASTROSTOMY_TUBE_FEEDING_IN_INFANCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROSTOMY_TUBE_FEEDING_IN_INFANCY	PTCH1	ALS2	MYO1H	CACNA1I	TBCK	BRAF	DPM1	SHH	CDH15	CDON	SIX3	PRPS1	KIF1A	TGIF1	STAG2	C2CD3	KRT5	YY1	TOR1A	PIGW	TRIO	GAS1	ALG12	DCHS1	FOXH1	DLL1	ERBB4	MYT1L	FGF8	FGFR1	ZIC2	CACNG2	PIGL	GLI2	UBTF	TDGF1	RALGAPA1	CAMK2B	MED12L	GRIN1	SLC1A4	TSEN34	MBD5	SLC5A6	ZMYND11	CIC	PPP2R1A	STIL	PIGV	TSEN15	TRPM3	SMC1A	ASH1L	NBEA	SEPSECS	CUX1	KIRREL3	NODAL	ASPA	CLCN6	FUS	TCF4	WDR26	CHAMP1	SCN1A	COL7A1	MTRFR	SETBP1	DEAF1	MGAT2	COQ2	DNM1L	EPB41L1	DEGS1	TSEN54	DISP1	PNPT1	DALRD3	LONP1	ITCH	TRIP4	RTL1	ADNP	SPTLC1	SIGMAR1	FAT4	PRICKLE2	TSEN2	CAMK2A	SPTBN4	HIVEP2	PGAP3	PPP3CA	UGDH	CLN8	SCN3A	GRIN2B	SET	PGAP2	SPATA5	EEF1A2	MEG3	KLHL40	SON	BLM	KRT14	DYNC1H1	LRPPRC	KDM5B	COL2A1	SETD1B	SPG11	PTPN23	SPOP	PIGO	KCNQ5	RNF13	FDFT1	COG5	CLTC	DOCK8	PDHA1	RAB11A	PIGU	CSNK2B	PGAP1	TRAPPC12	PSAT1	DLK1	BRSK2	PIGY	SYNGAP1	TAOK1	AFF4	PDSS2	GNPTAB
HP_ABNORMALITY_OF_SMALL_INTESTINAL_VILLUS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SMALL_INTESTINAL_VILLUS_MORPHOLOGY	CIITA	TTC37	ALG3	STX3	WNT2B	EPCAM	STAT1	MYO5B	SKIV2L	IL2RA	RFXANK	RFXAP	FOXP3	MPI	DGAT1	ALG9	TOM1	DEF6	ADAM17	RFX5	PCSK1	PERCC1	LRBA	UNC45A	NLRC4	SYK	SPINK5
HP_CHILDHOOD_ONSET_SENSORINEURAL_HEARING_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHILDHOOD_ONSET_SENSORINEURAL_HEARING_IMPAIRMENT	MARVELD2	HGF	NDE1	COCH	SETBP1	TIMM8A	TK2	ATP2B2	GIPC3	GJB2	IARS2	RIPOR2	ADCY1	GJB6	IGF1	SARDH	CDH23	ESPN
HP_PROFOUND_SENSORINEURAL_HEARING_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROFOUND_SENSORINEURAL_HEARING_IMPAIRMENT	FGF3	SLC12A2	KCNE1	KARS1	PRPS1	RDX	PMP22	CIB2	MYO15A	KCNQ1
HP_ABNORMAL_LACRIMAL_PUNCTUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LACRIMAL_PUNCTUM_MORPHOLOGY	FGFR2	TP63	UBR1	FGF10	FGFR3	FOXL2
HP_ABNORMAL_LACRIMAL_DUCT_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LACRIMAL_DUCT_MORPHOLOGY	SMC3	NOP10	TP63	KAT6A	PIK3CD	SIX1	FREM2	TCOF1	PPP1CB	EP300	FGFR2	TET3	PAX3	FGF10	FOXL2	KNSTRN	YY1	PAX1	SOX6	EYA1	MED12	FRAS1	TFAP2A	IGSF3	CD151	PRR12	FGFR3	HMX1	NDUFB11	TAF1	COL3A1	PTDSS1	GRIP1	CREBBP	FREM1	NHP2	SMCHD1	SIX5
HP_ABNORMAL_LACRIMAL_GLAND_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LACRIMAL_GLAND_MORPHOLOGY	SLC25A24	SOX10	FGF10	GJB2	BTNL2	FGFR3	FOXL2	HLA-DRB1	GJB6	FGFR2
HP_ANTERIOR_SYNECHIAE_OF_THE_ANTERIOR_CHAMBER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_SYNECHIAE_OF_THE_ANTERIOR_CHAMBER	PITX2	PAX6	OVOL2	VSX1	CYP1B1	COL18A1	GRHL2	COL8A2	FOXC1	FOXE3	ZEB1
HP_POSTERIOR_SYNECHIAE_OF_THE_ANTERIOR_CHAMBER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_SYNECHIAE_OF_THE_ANTERIOR_CHAMBER	FOXE3	LRAT	RPE65	CYP1B1	LCA5	MIR204	HMX1	ATOH7	SPATA7
HP_ABNORMALITY_OF_CORNEAL_THICKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CORNEAL_THICKNESS	SLC4A11	CNGB1	SPATA7	PROM1	CERKL	RPE65	RP1L1	PLOD1	USH2A	PRPF3	USP45	GDF6	MIR184	ZNF408	IFT140	CA4	KIZ	DDR2	NEK2	CRB1	CEP290	PDE6G	NR2E3	RP2	CRX	RP1	GUCY2D	PCYT1A	GNB5	RD3	ANTXR1	RBP3	IMPDH1	IMPG1	KERA	DCN	PRPH2	SAG	IMPG2	RGR	MAK	SLC2A10	AGBL5	KIAA1549	CDHR1	RDH12	ZNF469	COL3A1	RPGR	ARL3	RHO	TULP1	SCAPER	POMGNT1	AHR	BEST1	CNGA1	LRAT	RPGRIP1	FGFR3	MERTK	OFD1	SLC7A14	PCARE	PRCD	EYS	PRPF8	NR2F1	REEP6	AIPL1	IFT88	IDH3B	FAM161A	ARHGEF18	HGSNAT	ZNF513	NMNAT1	KCNJ13	PDE6A	RP9	AP1B1	FSCN2	FGFR2	TTC8	KLHL7	ABCA4	TUB	DHX38	LMX1B	HRAS	DHDDS	ARL2BP	FGF10	IFT172	PDE6B	ROM1	CLRN1	PRPF6	VSX1	IQCB1	PIEZO2	NRL	PRPF4	IDH3A	CHRDL1	PRDM5	CFAP418	RLBP1	SEMA4A	BBS2	ARL6	LCA5	TOPORS	PRPF31	SNRNP200	GUCA1B	AHI1	CHST6
HP_INCREASED_CORNEAL_THICKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CORNEAL_THICKNESS	SLC4A11	DCN	FGF10	FGFR3	FGFR2
HP_ABNORMAL_CORNEAL_ENDOTHELIUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CORNEAL_ENDOTHELIUM_MORPHOLOGY	SLC4A11	ZEB1	PITX2	OVOL2	AGBL1	VSX1	COL8A2	TCF4	LCA5	FOXC1	SPATA7	PAX6	RPE65	CYP1B1	GRHL2	LRAT	FOXE3	KCNJ13
HP_ABNORMAL_DESCEMET_MEMBRANE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DESCEMET_MEMBRANE_MORPHOLOGY	SLC4A11	ZEB1	PITX2	PAX6	OVOL2	AGBL1	VSX1	CYP1B1	COL8A2	GRHL2	TCF4	FOXC1	FOXE3	KCNJ13
HP_REDUCED_NUMBER_OF_CORNEAL_ENDOTHELIAL_CELLS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_NUMBER_OF_CORNEAL_ENDOTHELIAL_CELLS	COL8A2	OVOL2	ZEB1	AGBL1	VSX1	SLC4A11	GRHL2	TCF4
HP_ABNORMALITY_OF_CORNEAL_STROMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CORNEAL_STROMA	SLC4A11	PITX2	GLB1	CTSA	ABCA1	TGFBI	STS	RIPK4	CHST6	GALNS	ZEB1	VSX2	DDB2	ASAH1	CTNS	PAX6	MBTPS2	SLC4A4	ALDH18A1	IL2RB	COL8A2	PPP1R17	GHR	GNPTAB	PSMB8	OCLN	UBIAD1	APOB	LCAT	OVOL2	KERA	GJB2	MMP2	LIFR	VSX1	LIPC	GNPTG	ERCC5	LZTR1	AIRE	PEX5	LDLR	RAB23	SLC29A3	ERCC6	CYP1B1	ESCO2	PTPN22	IDUA	NOD2	SC5D	KRAS	MCOLN1	XPA	GBA	TRAPPC2	SMARCAL1	POMGNT1	ERCC8	APOA1	FOXC1	CYP4V2	CD247	SREBF1	GNAS	STAT4	WDR73	ERCC3	PEX1	GRHL2	TRPV3	COL18A1	PTPN2	NDP	PITX3	APOA2	B4GAT1	KRT12	NTRK1	IL2RA	ARSB	NLRP3	ANKRD55	EPHX2	JAG1	SOS2	CHRDL1	WT1	ERCC4	ERCC2	NAGA	PEX2	PCSK9	XPC	APOE	FOXE3
HP_CENTRAL_OPACIFICATION_OF_THE_CORNEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_OPACIFICATION_OF_THE_CORNEA	STAT4	PITX2	PAX6	TGFBI	OVOL2	IL2RA	CYP1B1	ANKRD55	PTPN22	COL18A1	SLC4A4	PTPN2	IL2RB	JAG1	FOXC1	NOD2	CD247	FOXE3	GNAS
HP_ABNORMAL_CORNEAL_EPITHELIUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CORNEAL_EPITHELIUM_MORPHOLOGY	IKBKG	AIRE	IL12A-AS1	PLEC	IL12A	MPV17	EPCAM	TGFBI	RIPK4	CHST6	TWIST2	SREBF1	DDB2	IL6ST	IKZF1	FOXC2	TLR4	LBR	COL4A6	PAX6	BTNL2	MBTPS2	IL10	GSN	ERCC3	ZEB1	PLCG2	HLA-B	COL17A1	MPLKIP	GJB2	MAB21L1	KIFBP	SLC39A4	ERAP1	ZMPSTE24	ERCC5	COL4A3	CERS3	MMP1	FGF10	RNF113A	COL4A5	GTF2E2	COL7A1	WAS	WIPF1	FGFR3	ZNF469	LMNA	RNF125	NTRK1	STAT4	ALOX12B	ERCC6	ERCC8	UBAC2	ERCC2	TGM1	NGLY1	FGFR2	NLRP1	TAT	ABCA12	XPA	UROD	IFNGR1	MEFV	CLTCL1	POLH	NOD2	CRLF1	ALOXE3	ELP1	FERMT1	IARS2	C4A	TP63	SPINT2	KRT3	XPC	SCN9A	SLC35C1	HLCS	CTNS	KLRC4	PRDM12	ALDH3A2	MTTP	NLRP3	UROS	PNPLA1	GTF2H5	CCR1	GATA1	TARS1	NIPAL4	PRDM5	IL23R	WT1	ERCC4	COL4A4	FAS	HLA-DRB1	GJB6	AEBP1	FBN1
HP_CORNEAL_NEOVASCULARIZATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORNEAL_NEOVASCULARIZATION	TBX1	PAX6	NLRP1	COMT	GJB2	COL4A1	HIRA	ERCC2	SREBF1	WT1	FGFR2	DDR2	ARVCF	SEC24C	RREB1	FGF10	GP1BB	FGFR3	UFD1	NGLY1	GJB6	CYP1B1	JMJD1C
HP_MYDRIASIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYDRIASIS	MYH11	GNAQ	BAP1	LOXL1	MYL9	ATP1A3	CYSLTR2	PEX10	ATP1A2	CACNA1A	ACTA2	SLC1A3	GNA11	SF3B1
HP_BULL_S_EYE_MACULOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BULL_S_EYE_MACULOPATHY	ABCA4	RIMS1	TMCO1	PROM1	RAX2	MFSD8	TLCD3B	VPS13B
HP_CYSTOID_MACULAR_EDEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CYSTOID_MACULAR_EDEMA	ARHGEF18	POMGNT1	ARL3	PRPH2	RDH5	RLBP1	PRPF8	RP1L1	KIAA1549	IDH3A	PDE6G	HLA-A	REEP6	CYP4V2	NOD2	RHO	MFRP	DHDDS
HP_CHOROIDAL_NEOVASCULARIZATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOROIDAL_NEOVASCULARIZATION	ABCC6	AGXT	FBN2	CFI	MAPKAPK3	C1QTNF5	XYLT2	TIMP3	PRPH2	CFHR3	CFHR1	XYLT1	FBLN5	EFEMP1	HMCN1	HLA-A	ENPP1	CFH	APOE	FBLN1
HP_MACULAR_HYPERPIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_HYPERPIGMENTATION	CFI	EFEMP1	ADAR	CFH	PAX2	CRX
HP_DRUSEN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DRUSEN	TMEM98	PRPH2	CFI	CFH	C1QTNF5	XYLT2	CFHR3	FBLN5	LCA5	HMCN1	GUCA1A	APOE	MFRP	SPATA7	RPE65	ABCC6	CFHR1	XYLT1	LRAT	ALMS1	GUCY2D	EFEMP1	IFT172	CTNNA1	ESPN	IMPG1
HP_HYPERPIGMENTATION_OF_THE_FUNDUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPIGMENTATION_OF_THE_FUNDUS	CAPN5	POU3F4	APC	CFI	MUTYH	EFEMP1	CFH
HP_ACHROMATOPSIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACHROMATOPSIA	CNGA3	CNGB3	NBAS	ATF6	GNAT2
HP_ANOMALOUS_TRICHROMACY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANOMALOUS_TRICHROMACY	OPA1	GUCY2D	OPA3	OPN1MW	OPN1LW	C1QTNF5	DNM1L	OPN1SW	NR2E3
HP_ABNORMALITY_OF_LENS_SHAPE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_LENS_SHAPE	COL4A4	COL4A6	PRPH2	LAMB2	RDH5	RLBP1	OCRL	COL4A3	ERCC6	ERCC8	RHO	COL4A5
HP_VITRITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VITRITIS	NDUFB11	COX7B	HLA-A	RB1	HCCS
HP_ABNORMAL_ATRIAL_ARRANGEMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ATRIAL_ARRANGEMENT	HYDIN	ZMYND10	GDF1	DRC1	PKD1L1	DNAI1	CCDC40	RSPH3	MCIDAS	DNAH5	STK36	GAS2L2	CCDC103	DNAAF11	CFAP300	DNAAF2	SPAG1	ODAD1	DNAL1	TTC12	CCDC39	CCNO	RSPH9	NODAL	CFC1	ODAD2	CFAP298	DNAAF1	FOXJ1	NEK10	DNAAF4	ODAD3	ODAD4	DNAAF5	LRRC56	GAS8	RPGR	RSPH4A	RSPH1	DNAAF3	DNAH9	CCDC65	DNAJB13	OFD1	DNAH11	NME8	DNAI2	CFAP221	SPEF2	DNAH1	DNAAF6
HP_ABNORMAL_CONNECTION_OF_THE_CARDIAC_SEGMENTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CONNECTION_OF_THE_CARDIAC_SEGMENTS	HYDIN	EOGT	GAS1	MLXIPL	ZMYND10	COMT	DRC1	CITED2	RAI1	RAD21	CCDC40	PLXND1	GATA4	ARID2	SKIV2L	RAD51	GATA6	SALL4	GPC3	RBM8A	NKX2-5	HLA-B	MCTP2	FIG4	GTF2I	FANCC	TBC1D24	NKX2-6	NCF1	DNAAF2	ROR2	TTC12	GDF1	NR2F2	SPECC1L	DGCR6	LIMK1	MEGF8	TBX1	EIF4H	PEX19	FANCF	NIPA1	CFAP298	VAC14	ERCC4	GPC4	INTU	FANCD2	PAH	RBM10	PRKCZ	ODAD4	DDX59	LRRC56	TUBG1	GAS8	ZMPSTE24	ARHGAP31	NODAL	FANCB	ZIC3	RSPH1	DNAAF3	RRAS2	UBE4B	EIF2AK3	SMARCA4	SEMA3E	ARVCF	KDR	CHD7	OFD1	NADSYN1	UFD1	ALX3	FANCL	SPEF2	DNAH1	PHGDH	CHD4	EHMT1	SOX4	DNAI1	RSPH3	HIRA	JAG1	SMARCB1	NOTCH2	LMNA	MCIDAS	PALB2	MYRF	KCNAB2	SMARCC2	RPL5	CACNA1C	MAD2L2	MED13L	ZEB2	BMP2	FANCA	BCL7B	WASHC5	PTCH1	CFAP300	CHUK	FANCG	ARID1A	RSPH9	FOXF1	MMP23B	SIX3	DNAAF1	CDON	TTC37	SOX11	P4HA2	PDPN	ODAD3	TMEM94	NOTCH1	SMARCE1	SUFU	PRDM16	ARID1B	TAB2	GNB2	DACT1	SLC37A4	NXN	DNAJB13	SEC24C	METTL27	RNU4ATAC	TBL2	PIGN	FLT4	STAG2	DISP1	FANCI	WT1	ESS2	DNAAF6	ATP6V1B2	TRAF7	GJA8	PTPN22	FANCM	CCNQ	HSPG2	PKD1L1	ALX1	FGF8	SPEN	CHRM3	RERE	GATA5	DNAH5	STK36	ELN	TMEM270	DNAAF11	BRIP1	SPAG1	ODAD1	RFC2	DNAL1	COX7B	CCDC39	CCNO	FKTN	DPF2	TDGF1	QRICH1	FOXJ1	SLX4	ZIC2	DNAAF4	BICRA	FKBP6	STX1A	DNAAF5	NIPA2	RPGR	PIGL	RSPH4A	TGIF1	SMARCD1	SRCAP	DOCK6	HIBCH	BAZ1B	OTUD5	DNAH9	RAB23	FGFR1	ZFPM2	CCDC65	PUF60	DGCR2	CASZ1	FOXH1	BUD23	UBE2A	RAD51C	FANCE	DNAI2	DNAJC30	JMJD1C	GTF2IRD2	HLA-DRB1	CCDC22	CFAP53	FOXC2	VPS37D	UBE2T	GJA1	GAS2L2	STRA6	CCDC103	MKKS	SALL1	LUZP1	SLC35A2	CFC1	ODAD2	MMP2	IPO8	DLL4	ZNF462	MMP21	CXCR4	GLI2	GJA5	TMEM260	NEK10	SF3B4	RFWD3	SHH	GABRD	SKI	MMP14	RPL11	DLL1	DGCR8	BRCA2	XRCC2	TBX2	RREB1	DDX11	CLIP2	DNAH11	RBPJ	GP1BB	SH3PXD2B	GTF2IRD1	NME8	CDK8	BRAF	BRCA1	PQBP1	CFAP221	BCOR
HP_ABNORMAL_ATRIOVENTRICULAR_CONNECTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ATRIOVENTRICULAR_CONNECTION	MMP21	NODAL	ZIC3	GNB2	NKX2-5	CCNQ	GJA1	NOTCH1	MCTP2
HP_COMMON_ATRIUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMMON_ATRIUM	MMP21	EVC	TTC26	ZIC3	GDF1	PRKACB	WT1	EVC2
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	MMP21	TTC26	TMEM260	TBX1	EP300	CREBBP	PLXND1	PIK3R2	FLT4	ACVR2B	NKX2-6	DGCR8	STRA6	DGCR2	CHD7	GDF1	DGCR6	WT1	ESS2	DNAH1	IPO8	CRELD1	SEMA3E	WDR26
HP_DOUBLE_AORTIC_ARCH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DOUBLE_AORTIC_ARCH	FLT4	TBX1	ESS2	DGCR8	DGCR6	DGCR2
HP_CONGENITAL_MALFORMATION_OF_THE_GREAT_ARTERIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_MALFORMATION_OF_THE_GREAT_ARTERIES	HYDIN	RERE	SMAD4	TGFBR1	COMT	KAT6A	CITED2	ZEB2	EED	CCDC40	PLXND1	GATA4	EOGT	SKIV2L	RAD51	GATA6	MAT2A	SALL4	GPC3	ABCC9	RBM8A	CDC42	NKX2-5	AMMECR1	FGFR3	GTF2I	FANCC	CEP120	BCOR	NKX2-6	NCF1	ARSL	DNAAF2	ROR2	MYH11	GDF1	NR2F2	FBN2	SUCLG1	EIF4H	PEX19	MED12	POLR1C	AMER1	FANCF	YY1AP1	CTU2	ERCC4	TTC26	GPC4	INTU	FANCD2	PAH	RBM10	IGF2	ODAD4	DDX59	LRRC56	TUBG1	UMPS	ARHGAP31	NODAL	FANCB	ZIC3	KANSL1	RSPH1	RRAS2	MYCN	RSPRY1	TRIP4	SMARCA4	PACS1	SLC29A3	CHD7	OFD1	CALM3	NADSYN1	TGFBR2	ESCO2	CRKL	FANCL	SMAD3	DVL3	THOC6	DNAH1	TBX4	SEMA3E	MID1	TSFM	PHGDH	CHD4	SLC25A24	EHMT1	HPGD	SOX2	SMARCB1	WDR35	POLR1D	MAD2L2	SHANK3	MED13L	FANCA	BCL7B	FOXC1	PTCH1	CFAP300	CHUK	ARID1A	RIT1	RSPH9	TGFB2	WAC	SIX3	TFAP2B	CD96	CDON	JAG1	TTC37	TBX1	SOX11	ODAD3	TMEM94	PRDM16	ARID1B	PIGN	NXN	DNAJB13	METTL27	RNU4ATAC	KCNN3	DHCR7	CREBBP	FLT4	STAG2	NPHP3	TMCO1	SNRPB	DYRK1A	DISP1	FKBP14	ARL6IP6	FANCI	FTO	ESS2	FIG4	ATP6V1B2	PTPN22	NEDD4L	ADAT3	WDPCP	CADM3	CHRM3	GATA5	DNAH5	GLI3	ELN	KYNU	TRRAP	DLL4	USP9X	DNAAF11	C2CD3	AFF4	SPAG1	KCNH1	ODAD1	RFC2	COX7B	RBP4	FKTN	ZMPSTE24	QRICH1	TKT	PRKG1	MEGF8	SIK3	ZIC2	DNAAF4	BICRA	FKBP6	PIGL	NSD1	TGIF1	SMARCD1	DOCK6	HIBCH	OTUD5	CSGALNACT1	ZFPM2	CCDC65	DGCR2	SON	PLAGL1	USP18	FOXH1	BUD23	NONO	WDR37	MYOCD	RAD51C	FANCE	DNAJC30	TCOF1	PCNT	BMPR1A	DNMT3A	IGBP1	CFAP53	ASCC1	VPS37D	ECE1	PPP1CB	EP300	GAS2L2	FGFR2	MKKS	SALL1	SMAD2	COG6	COA6	PEX1	PIGT	DHCR24	SMARCA2	TMTC3	ODAD2	ARX	ZNF462	MMP21	CXCR4	GLI2	MYLK	TMEM260	GJA5	HYMAI	B3GLCT	FLNA	PRDM6	PSMD12	SHH	HEY2	BRCA2	XRCC2	TBX2	KCNE5	NEK8	ACTB	GP1BB	AGO2	AGGF1	TRIP11	CDK8	BRAF	LARS2	BRCA1	PQBP1	PORCN	CFAP221	GAS1	MLXIPL	ZMYND10	SUPT16H	DRC1	RAI1	RAD21	KRAS	ARID2	SNRPN	HLA-B	MCTP2	TBC1D24	CTCF	TTC12	SPECC1L	DGCR6	LIMK1	VPS33A	NIPA1	CFAP298	VAC14	ZMIZ1	KAT6B	PUF60	ALG12	PRKCZ	GAS8	TP63	SIX6	PTEN	ZNF148	DNAAF3	UBE4B	EIF2AK3	LZTR1	LMX1B	ARVCF	KDR	LMNA	NOTCH2	UFD1	ALX3	ACTA2	SPEF2	ZNF699	MFAP5	SOX4	NOTCH3	POLR1A	DNAI1	RSPH3	HIRA	MCIDAS	PALB2	MYRF	KCNAB2	SETD2	SMARCC2	RPL5	CACNA1C	SAMD9	ACSL4	BMP2	ANKS6	WASHC5	ARFGEF2	FANCG	RAC1	FGF10	FOXF1	RPS26	MMP23B	UBR7	DNAAF1	P4HA2	PDPN	MAP3K7	DPM1	NOTCH1	MGAT2	STXBP1	SMARCE1	SUFU	TAB2	GNB2	RAB23	DACT1	TGFB3	SLC37A4	MAPK1	MKS1	SEC24C	TBL2	EXT2	ARF1	MASP1	WT1	DNAAF6	TRAF7	GJA8	SMC3	MAF	FANCM	APC2	HSPG2	LOX	PKD1L1	ALX1	FGF8	SPEN	ADAMTS10	G6PC3	ANK1	STK36	NFIX	TMEM270	FOXC2	BRIP1	DYNC2LI1	BPTF	DNAL1	CCDC39	NCAPG2	CCNO	DPF2	TDGF1	FOXJ1	SLX4	TALDO1	STX1A	ALB	DNAAF5	NIPA2	RPGR	RSPH4A	CCDC22	ERMARD	PLCB3	ALG8	SRCAP	COL18A1	BAZ1B	DNAH9	FGFR1	CASZ1	POLR1B	UBE2A	FBN1	DNAI2	SNX14	JMJD1C	BCR	GTF2IRD2	KAT8	HLA-DRB1	PCGF2	COQ4	KCNJ8	UBE2T	PTPN11	GJA1	STRA6	MAP2K1	CCDC103	LUZP1	MRPS16	SLC35A2	CFC1	MYH7	FOXE3	MMP2	SSR4	IPO8	ZMYM2	NEK10	SF3B4	RFWD3	GABRD	SKI	TBX5	DTNA	MMP14	RPL11	DLL1	MAP1B	DGCR8	RREB1	DDX11	CLIP2	DNAH11	RBPJ	SH3PXD2B	GTF2IRD1	NME8
HP_INTERRUPTED_AORTIC_ARCH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERRUPTED_AORTIC_ARCH	MMP21	SMG9	TMEM260	TBX1	GATA6	KRAS	DIS3L2	FOXF1	FGFR1	DGCR6	PLXND1	CHD7	SUCLG1	MYCN	ESS2	NKX2-6	DGCR8	SEMA3E	DGCR2
HP_ABNORMALITY_OF_ABDOMINAL_SITUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_ABDOMINAL_SITUS	PIGG	GDF1	CTBP1	ACTG2	LETM1	PKD1L1	CFAP53	NODAL	ZIC3	CCDC32	CFC1	CPLX1	NELFA	FOXJ1	CFAP52	NSD2
HP_MUSCULAR_VENTRICULAR_SEPTAL_DEFECT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCULAR_VENTRICULAR_SEPTAL_DEFECT	WBP11	GNB2	THOC6	ALG12	RPL3L	SVBP	DNAJC19	MYCN	NUP188	GATA6
HP_TRICUSPID_ATRESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRICUSPID_ATRESIA	TBX1	ARVCF	SEC24C	PLD1	TMEM260	RREB1	COMT	GP1BB	UFD1	HIRA	MYCN	JMJD1C
HP_RIGHT_VENTRICULAR_CARDIOMYOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIGHT_VENTRICULAR_CARDIOMYOPATHY	JUP	RYR2	DSP	PKP2	TGFB3	DSC2	TMEM43	DSG2
HP_LEFT_VENTRICULAR_NONCOMPACTION_CARDIOMYOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEFT_VENTRICULAR_NONCOMPACTION_CARDIOMYOPATHY	MIB1	MYL2	MYOCD	DTNA	MLYCD	RYR2	NONO
HP_CARDIAC_MYXOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIAC_MYXOMA	PRKAR1A	PRKACA	PDE11A	PDE8B	MYH8
HP_PERIMEMBRANOUS_VENTRICULAR_SEPTAL_DEFECT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIMEMBRANOUS_VENTRICULAR_SEPTAL_DEFECT	GATA6	THOC6	CALM3	ATRX	RAD21	SEC31A	NDUFC2	NUP188	CITED2	PUF60	BMP2
HP_CEREBELLAR_HEMORRHAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBELLAR_HEMORRHAGE	APP	IVD	ACAD9	PCCA	MMUT	PCCB
HP_ABNORMAL_ELECTROPHYSIOLOGY_OF_SINOATRIAL_NODE_ORIGIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ELECTROPHYSIOLOGY_OF_SINOATRIAL_NODE_ORIGIN	NF1	SGO1	NOS1AP	TPM3	ABCC9	SCN2B	RET	RYR2	MYO1H	CACNB2	SCN1B	CALM2	GNB2	SCN5A	KCNQ1	AKAP9	TBX5	CACNA1C	SDHAF2	HEPHL1	SCN3B	KCNE3	BANF1	SLC25A11	CALM1	GNB5	SEMA3A	NPPA	MAX	VHL	GPD1L	RYR1	FH	LMNA	SCNN1A	KCNE5	CALM3	TRDN	SCN10A	SLMAP	MDH2	CACNA2D1	MYPN	CASQ2	SDHB	PKP2	PEX5	SCN4B	HCN4	KIF1B	TNNI3K	DNMT3A	KCNJ5	KCND3	SDHA	BVES	ANK2	DLST	KCNH2	CAV3	TMEM127	SDHC	KCNE2	EPAS1	RANGRF	SDHD	PRKAG2	KCNJ8	KCNE1	TRPM4	SNTA1	TPM2
HP_SINUS_TACHYCARDIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SINUS_TACHYCARDIA	NF1	SDHB	TPM3	PEX5	RET	KIF1B	DNMT3A	SDHA	DLST	TMEM127	SDHC	SDHAF2	EPAS1	BANF1	SLC25A11	MAX	SDHD	VHL	RYR1	FH	MDH2	MYPN	TPM2
HP_SICK_SINUS_SYNDROME	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SICK_SINUS_SYNDROME	SGO1	PKP2	ABCC9	SCN2B	HCN4	RYR2	SCN5A	TRDN	CACNB2	SCN1B	KCND3	CACNA1C	SCN3B	KCNE3	GNB5	SEMA3A	RANGRF	NPPA	AKAP9	GPD1L	SCNN1A	KCNE5	KCNJ8	SCN10A	SLMAP	CACNA2D1	TRPM4	CASQ2
HP_FIRST_DEGREE_ATRIOVENTRICULAR_BLOCK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FIRST_DEGREE_ATRIOVENTRICULAR_BLOCK	DMPK	PKP2	GATA4	GJA5	ABCC9	SCN2B	GPD1L	CITED2	SCN5A	CACNB2	TBX5	SCN1B	KCND3	TBX20	TLL1	GATA6	HCN4	CACNA1C	SCN3B	GJA1	KCNE3	SEMA3A	RANGRF	AKAP9	LMNA	SCNN1A	KCNE5	KCNJ8	MYH6	ACTC1	SCN10A	SLMAP	NKX2-5	CACNA2D1	TRPM4
HP_SECOND_DEGREE_ATRIOVENTRICULAR_BLOCK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SECOND_DEGREE_ATRIOVENTRICULAR_BLOCK	LMNA	GABRA3	CALM3	CACNA1S	KCNJ18	SCN5A	NPPA	CACNA1D
HP_BUNDLE_BRANCH_BLOCK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BUNDLE_BRANCH_BLOCK	SCN5A	GPC3	ABCC9	PTPN11	SCN2B	MYBPC3	POMT2	CACNB2	PLEC	SCN1B	CTNNA3	TBX20	MYOZ2	RNASEH1	NKX2-5	GATA6	PPP1CB	BRAF	ATP6V1E1	CACNA1C	MT-CYB	JUP	SCN3B	KCNE3	BANF1	DYSF	SEMA3A	GNAI2	NPPA	AKAP9	GPD1L	SCNN1A	TNNC1	MYH7	KCNE5	PIGU	SCN10A	SLMAP	GPC4	EXOSC5	CACNA2D1	PKP2	GATA4	MYL2	CITED2	GYG1	TNNI3K	RAF1	KCND3	HCN4	TLL1	CDH2	LEMD2	GLA	RANGRF	ATP6V1A	PRKAG2	KCNJ8	TRPM4	MYH6	ACTC1
HP_LEFT_ANTERIOR_FASCICULAR_BLOCK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEFT_ANTERIOR_FASCICULAR_BLOCK	MYH7	TNNI3K	TNNC1	TRPM4	SCN5A
HP_RIGHT_BUNDLE_BRANCH_BLOCK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIGHT_BUNDLE_BRANCH_BLOCK	SCN5A	ABCC9	SCN2B	MYBPC3	POMT2	CACNB2	PLEC	SCN1B	RNASEH1	PPP1CB	ATP6V1E1	CACNA1C	MT-CYB	JUP	SCN3B	KCNE3	BANF1	DYSF	SEMA3A	GNAI2	NPPA	AKAP9	GPD1L	SCNN1A	TNNC1	MYH7	KCNE5	PIGU	SCN10A	SLMAP	EXOSC5	CACNA2D1	PKP2	CITED2	GYG1	TNNI3K	KCND3	HCN4	LEMD2	RANGRF	ATP6V1A	TLL1	KCNJ8	TRPM4
HP_LEFT_BUNDLE_BRANCH_BLOCK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEFT_BUNDLE_BRANCH_BLOCK	MYH7	TNNI3K	TNNC1	PRKAG2	TRPM4	MYBPC3	SCN5A	MYL2	MYOZ2	CDH2
HP_ABNORMALITY_OF_THE_PULMONARY_VEINS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PULMONARY_VEINS	HYDIN	SMC1A	ZMYND10	GDF1	DRC1	SFTPB	RSPO2	DNAI1	CCDC40	RSPH3	MCIDAS	MYRF	DNAH5	RPS15A	GPC3	STK36	CDC42	GAS2L2	CCDC103	DNAAF11	CFAP300	DNAAF2	SPAG1	ODAD1	DNAL1	HES7	FOXF1	TTC12	CCDC39	CCNO	LFNG	RSPH9	DHCR24	NODAL	ODAD2	MED12	NIPA1	CFAP298	EIF2AK4	MMP21	DNAAF1	FOXJ1	GPC4	RIPPLY2	TMEM260	NEK10	DNAAF4	B3GLCT	ODAD3	ODAD4	CITED2	TUBG1	DNAAF5	LRRC56	GAS8	NIPA2	BMPR2	RPGR	RSPH4A	TBX5	WT1	RSPH1	DNAAF3	DNAH9	CCDC65	DNAJB13	MESP2	OFD1	DNAH11	NME8	DNAI2	CRTAP	CFAP221	SPEF2	DNAH1	DNAAF6	DLL3
HP_CONGENITAL_MALFORMATION_OF_THE_RIGHT_HEART	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_MALFORMATION_OF_THE_RIGHT_HEART	HYDIN	PTPN22	GATA6	ZMYND10	HLA-DRB1	DRC1	RAI1	PKD1L1	DNAI1	CCDC40	RSPH3	MCIDAS	GATA5	DNAH5	STK36	HLA-B	MCTP2	GAS2L2	CCDC103	DNAAF11	TBC1D24	CFAP300	DNAAF2	SPAG1	ODAD1	DNAL1	TTC12	CCDC39	GDF1	CCNO	RSPH9	NODAL	TBX1	CFC1	PEX19	ODAD2	MMP2	NKX2-6	IPO8	CFAP298	DNAAF1	FOXJ1	NEK10	DNAAF4	PAH	P4HA2	DVL3	ODAD3	TMEM94	ODAD4	LRRC56	DNAAF5	NOTCH1	GAS8	RPGR	RSPH4A	GNB2	MMP14	RSPH1	DNAAF3	OTUD5	DNAH9	EIF2AK3	CCDC65	DNAJB13	TBX2	NKX2-5	CHD7	OFD1	DNAH11	NADSYN1	SH3PXD2B	WASHC5	STAG2	NME8	UBE2A	ZIC3	DNAI2	CFAP221	SPEF2	BCOR	DNAH1	DNAAF6	ATP6V1B2	TRAF7	SEMA3E
HP_PERONEAL_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERONEAL_MUSCLE_WEAKNESS	GDAP1	TRPV4	PMP22	SARDH	LMNA
HP_ABNORMAL_CENTRAL_SENSORY_FUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CENTRAL_SENSORY_FUNCTION	PRNP	TRAF7	TERT	SUFU	PDGFB	SMO	ABCD1	SMARCE1	SMARCB1	ATP6AP2	NF2	AKT1	BAP1	PIK3CA
HP_ABNORMALITY_OF_ADRENAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_ADRENAL_MORPHOLOGY	CYP17A1	NF1	TP53	MEN1	LHX4	RET	POMC	YY1	KCNJ5	PLXND1	CDKN1C	CDKN2B	GK	GLI3	NR0B1	LIPA	POLE	TBC1D24	ABCC6	SDHAF2	SLC25A11	KCNQ1OT1	PDE8B	SIX3	CYP11B1	IGF2	VHL	CYP21A2	IDH1	ZMPSTE24	CDKN1A	APC	POR	CLCN2	BMP4	CACNA1S	DNMT3A	HSD3B2	SCN4A	SDHB	CDKN1B	AIRE	CHEK2	DLST	ADH5	USP8	MTHFR	PTEN	SDHC	LMNA	TNXB	SDHD	TBX19	CYP11A1	CILK1	ENPP1	PRKAR1A	ABCD1	PDE11A	CCDC22	VANGL2	CDH23	CYP11B2	NKX2-6	CACNA1D	HYLS1	WASHC5	HESX1	PEX1	ARMC5	MAX	CDON	PRKACA	FH	KCNQ1	GPR161	CDKN2A	MDH2	PROKR2	TBC1D7	WNT4	KIF1B	SDHA	IDH2	GNAS	KCNE3	TMEM127	MKS1	WNT3	WDR11	MDM2	CDKN2C	EPAS1	NR3C1	NSDHL	STAR	ROBO1	ATP6V1B2
HP_ABNORMALITY_OF_ADRENAL_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_ADRENAL_PHYSIOLOGY	TP53	POMC	CDKN2B	BSND	NDN	ABCD1	KANSL1	TXNRD2	HBB	SOX9	SNRPN	PEX3	PDE8B	PROP1	TRAPPC11	STAR	CDKN1A	QRSL1	BAP1	CYP11B2	HSD17B4	SMARCE1	SCNN1A	NF2	HSD3B2	STEAP3	NFKB2	SCNN1G	USP8	TRAF7	PEX14	PEX5	WT1	SMO	CLCNKB	MRAP	LHX4	RET	WNK1	AAAS	AKT1	TBCK	CYP17A1	SLC12A3	SCNN1B	KLHL3	HTR1A	CDH23	SGPL1	CTNNB1	CYP11B1	CYP11A1	SAMD9	NNT	PEX6	LIPA	TBX19	OCRL	PEX19	ARMC5	PEX1	PCSK1	SMARCB1	MC2R	MKRN3	SLC26A3	PRKACA	PEX12	SUFU	MAGEL2	POR	OCA2	PRKAR1A	PEX2	GNAS	TERT	NPAP1	PDGFB	CLCNKA	PWAR1	SRY	PEX11B	PEX16	PIK3CA	AIRE	HSD11B2	MEN1	KCNJ5	VAMP7	SLC12A1	ZFPM2	GATB	GK	NR0B1	GLI3	WNK4	GATA4	INSR	MAP3K1	PEX13	MRPS25	KCNJ16	PEX10	NR5A1	CLCN2	KCNJ11	PEX26	KCNJ1	GATC	CUL3	KCNJ2	CDKN1B	TCTN3	WWOX	RBM28	NFS1	KCNJ10	NR3C2	PDE11A	SAA1	DMRT3	GMPPA	HERC2	BRAF	IARS2	CACNA1D	PWRN1	AIP	SNORD115-1	DHX37	NDUFAF5	CDKN2C	NR3C1	SNORD116-1	MCM4	MRPS7	BCOR
HP_CENTRAL_ADRENAL_INSUFFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_ADRENAL_INSUFFICIENCY	TBCK	MAGEL2	CDH23	NDN	AAAS	OCA2	MEN1	PCSK1	SNRPN	CTNNB1	NFKB2	BRAF	POMC	IARS2	RBM28	AIP	TBX19	GLI3
HP_ADRENOCORTICOTROPIN_DEFICIENT_ADRENAL_INSUFFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADRENOCORTICOTROPIN_DEFICIENT_ADRENAL_INSUFFICIENCY	CDH23	AIP	TBX19	RBM28	NFKB2	MEN1
HP_PRIMARY_HYPERALDOSTERONISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMARY_HYPERALDOSTERONISM	SCNN1B	CYP11B2	CYP11B1	SCNN1A	SCNN1G	SLC12A3	CLCN2	KCNJ5	CLCNKB
HP_GLUCOCORTOCOID_INSENSITIVE_PRIMARY_HYPERALDOSTERONISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLUCOCORTOCOID_INSENSITIVE_PRIMARY_HYPERALDOSTERONISM	SCNN1B	SCNN1A	SCNN1G	CLCN2	KCNJ5
HP_ADRENOCORTICOTROPIC_HORMONE_DEFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADRENOCORTICOTROPIC_HORMONE_DEFICIENCY	TP53	CDH23	AIP	LHX3	TBX19	POMC	GLI3	MEN1
HP_ADRENOCORTICOTROPIC_HORMONE_EXCESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADRENOCORTICOTROPIC_HORMONE_EXCESS	CYP11A1	HSD3B2	ABCD1	CYP17A1	MCM4
HP_ABNORMALITY_OF_THE_POSTERIOR_PITUITARY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_POSTERIOR_PITUITARY	SOX3	TBX3	DISP1	GLI2	LHX4	DLL1	LHX3	WFS1	PROP1	HESX1	AVP	CTNNB1	DYRK1A	BRAF	SRPX2	OTX2	CDON	ZIC2	NODAL	STIL	SMARCB1	TP63	TDGF1	KIAA0753	VANGL2	GPR161	SIX3	BAP1	PROKR2	ERF	PUF60	SHH	GAS1	SUFU	ADGRG1	FOXH1	PTCH1	SMARCE1	NF2	POU1F1	TRAF7	TERT	WDR11	FOXA2	FGF8	PDGFB	SMO	MTHFR	TGIF1	PI4KA	AKT1	ROBO1	PIK3CA
HP_POSTERIOR_PITUITARY_DYSGENESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_PITUITARY_DYSGENESIS	PUF60	SOX3	PROP1	TBX3	ADGRG1	LHX4	GLI2	LHX3	POU1F1	HESX1	DYRK1A	OTX2	SRPX2	WDR11	FOXA2	MTHFR	CDON	PI4KA	KIAA0753	VANGL2	GPR161	ROBO1	PROKR2	ERF
HP_PITUITARY_GROWTH_HORMONE_CELL_ADENOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PITUITARY_GROWTH_HORMONE_CELL_ADENOMA	MEN1	GANAB	PKD2	BICC1	CDKN2C	CDKN1B	CDKN2B	AIP	ALG9	PRKAR1A	DNAJB11	CDKN1A	PKD1	GPR101
HP_ABNORMALITY_OF_THE_PARATHYROID_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PARATHYROID_MORPHOLOGY	CDC73	GCM2	MEN1	TSC1	SLC12A3	TBX1	KL	CDKN2B	CDKN1B	NF1	FLCN	IDH2	CASR	TSC2	GATA3	CHD7	CDKN2C	CLCNKB	RET	IDH1	CDKN1A	SEMA3E
HP_PARATHYROID_DYSGENESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARATHYROID_DYSGENESIS	CHD7	GCM2	TBX1	SEMA3E	GATA3
HP_ABNORMAL_THYROID_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_THYROID_MORPHOLOGY	FASLG	CACNA1S	IL7R	CDKN2B	ARID2	SUGCT	RAG2	AKT1	CDKN1B	PRKCD	RRM2B	TSHB	STAT5B	SASH1	SLC5A5	TSHR	MINPP1	TCF4	THRB	CDKN1A	APC	POLR1C	KAT6B	PROP1	RAG1	DICER1	TWNK	NKX2-5	MSH3	KCNJ18	SMARCA4	MLH1	CASP10	PTEN	WRN	NRAS	FOXE1	CLCNKB	POLG	CCBE1	RET	BMPR1A	TG	ADAMTSL1	EDN3	MID1	SDHD	PAX8	HLA-DQA1	SLC12A3	SOX4	SLC37A4	LHX4	LHX3	SMARCB1	SMARCC2	RPS20	HRAS	SDHC	POLR1D	NRTN	HABP2	ARID1A	SLC26A4	SEMA4A	EYA1	IYD	ECE1	NKX2-1	SLC25A4	SOX11	KCNJ10	EPCAM	STAT1	SMARCE1	POLG2	ARID1B	FOXI1	PMS2	GNB2	DUOXA2	JAG1	PRKAR1A	GDNF	ADA	POU1F1	MDM2	C1S	PIK3CA	ITCH	NSDHL	LRBA	USF3	SEMA3D	GREM1	TPO	ALMS1	SEC23B	CDC73	LIFR	MEN1	GLI3	KEAP1	GNAS	DCLRE1C	MLH3	IL2RG	TGFBR2	RASGRP1	SEMA4D	DPF2	IDH1	ATP7A	MSH2	SMO	KRAS	PMS1	CDH23	CHD7	SMARCD1	CHEK2	IL2RA	DUOX2	POLR1B	PLCG2	KLLN	EDNRB	FOXP3	DNAH1	TCOF1	NLRP1	FAS	ERBB2	TTC7A	SIX1	MSH6	TRHR	HESX1	RCBTB1	FLCN	ERBB3	GPR35	MST1	LMNA	SRGAP1	MMP2	FAN1	CDKN2A	TP53	SOCS1	HLA-DQB1	SREBF1	IRS4	CTLA4	MMP14	IDH2	FOXD3	SDHB	LIG4	TBX2	SEMA3C	ABCD1	CDKN2C	ADA2	ZFAT	RMRP	IL18BP
HP_THYROTOXICOSIS_WITH_DIFFUSE_GOITER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THYROTOXICOSIS_WITH_DIFFUSE_GOITER	GABRA3	CACNA1S	KCNJ18	SLC12A3	TSHR	CLCNKB
HP_CENTRAL_HYPOTHYROIDISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_HYPOTHYROIDISM	PTCH1	PROP1	CPE	LEPR	SHH	TSHB	ZIC2	INSR	SIX3	SNRPN	TGIF1	STAG2	LHX4	NDN	STIL	CDON	BAP1	GLI2	OCA2	SIM1	RPL10	FGF8	SMARCE1	NF2	POU1F1	FOXH1	DLL1	TRH	EIF2AK3	POMC	FGFR1	GAS1	CDH23	TRAF7	NEXMIF	FOXA2	SMO	DMXL2	TBL1X	ARNT2	HESX1	AKT1	DISP1	NODAL	TDGF1	GLI3	TMEM67	LHX3	NIN	TRHR	CTNNB1	LEP	BRAF	SOX3	SMC1A	SMARCB1	AIP	OTX2	IRS4	SETBP1	SUFU	MAGEL2	MEN1	PCSK1	POU3F4	TERT	RBM28	KATNIP	PDGFB	PIK3CA
HP_NEOPLASM_BY_HISTOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_BY_HISTOLOGY	FASLG	PIK3CA	DICER1	KIT	CDKN2B	GATA1	SKIV2L	RB1	BRAF	KANSL1	CDKN1C	GPC3	TRPV3	MNX1	CDK4	ERCC3	SMARCA4	SLC25A11	KCNQ1OT1	EXT2	PDE8B	KRT10	RAD51D	NF1	TSC2	YY1	NBN	HDAC4	MLH1	ANTXR2	FAM149B1	CDKN1A	RPL18	DZIP1L	ASPSCR1	BAP1	GPC4	AKT1	POT1	MLH3	BMPR1B	BUB1	FIBP	SMARCE1	MSH6	NF2	MCC	MSH3	RSPRY1	DLST	ERCC5	CASP10	PTEN	TRAF7	TSC1	NR4A3	WT1	IDH1	DIS3L2	CYSLTR2	PHF21A	PTCH2	CCND1	BUB1B	GNAQ	PDGFB	SDHD	POLE	KIF1B	BRCA2	TRIM28	EWSR1	NRAS	SOX2	SMARCB1	MSH2	APC	CDKN2A	PDGFRB	RPS20	SDHC	SSX1	CHEK2	RPL27	ARID1A	SPTBN1	HRAS	RPL35A	KCNN3	PAX6	RPS10	RPS26	PRKACA	TOPORS	TTC37	SOX11	EPCAM	PRDM16	ARID1B	RPS15A	PRKAR1A	POU6F2	BDNF	FLI1	IFNG	SDHB	TERF2IP	TERT	MDM2	ACD	KRT17	CEP57	MYO1H	IGF2	USF3	VHL	PKHD1	RELA	GREM1	ABCA5	CDC73	RPL15	MEN1	RABL3	ASXL1	VAMP7	RERE	ZFPM2	NR0B1	GLI3	REST	H19	FOXO1	BAX	SDHAF2	TP53	PMS2	KCNH1	COL4A6	TGFBR2	SOS1	RECQL4	OFD1	GDNF	KRT1	COL14A1	ADAMTS3	KRAS	KIAA0753	GCDH	MAPRE2	NSD1	SMARCD1	FLNA	RUNX1	RPS19	PLCD1	BLM	WWOX	KLLN	FH	AAGAB	ANAPC1	NEK9	TRIP13	PAX7	EP300	BARD1	BMPR1A	FAS	RPS24	ZFTA	CREB1	PTH1R	LRP5	TBX18	GNAS	PTCH1	ADA2	PHOX2B	POLD1	FAN1	XPA	CXCR4	SDHA	PALB2	EXT1	TUBB	DLK1	IDH2	TMEM127	CPLANE1	CDKN1B	EDN3	ATP6V1B2	MVK	ACVR1	GDF5	MITF	SUFU	TYR	TLR2	ARID2	LRP1	PRKCD	SMAD4	GNA11	SLC22A18	SLC6A17	SOX9	ERBB2	GJC2	SPRED1	PAX3	TFAP2A	RPS17	RPS7	PRLR	RPS28	PRKCZ	MC1R	FAM20C	MBTPS2	SIX6	RPL35	DDB2	UBE4B	BRCA1	STK11	WRN	NOTCH3	RPL5	SMO	FLCN	CTSC	TAF15	ERCC6	RPS27	AURKA	RAD51	SOX4	CTNNB1	DKC1	KCNAB2	SETD2	SMARCC2	AXIN2	PDGFRA	SEMA4A	XPC	ERCC4	MMP23B	FGFR3	MRE11	MDH2	SETBP1	PALLD	PDPN	DLC1	RAF1	ERCC2	SRC	BUB3	ALX4	RSPO1	TRIM37	SRY	RTL1	APC2	SEC23B	HSPG2	RET	SPEN	RNF43	RAD51C	TMEM216	KEAP1	GATA4	FOXC2	VPS16	DYNC2LI1	MAP3K1	SLC37A4	FAT4	RASGRP1	SQSTM1	DPF2	SSX2	NR5A1	ASCL1	BRIP1	PTPRJ	COL1A1	ACTB	PMS1	PTPN11	KIF7	OCA2	COL18A1	MMP1	MEG3	PLA2G2A	SF3B1	COL4A5	RPL11	DCC	CASZ1	TCTN3	COL7A1	RPL26	NLRP1	DHCR24	BRD4	ELMO2	PDGFRL	FLT4	PDE11A	PCGF2	DMRT3	PDE6D	POLH	PTPN12	BCL10	MAP2K1	CCBE1	FGF3	LUZP1	LMNA	MAX	RAD54B	MGMT	KCNQ1	BMPER	RPL31	DHX37	RAD50	GABRD	SKI	RPS29	TSR2	CDKN2C	NUTM1	MTAP	PERP
HP_EMBRYONAL_RENAL_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMBRYONAL_RENAL_NEOPLASM	GPC3	CDC73	BRCA2	WT1	DICER1	DIS3L2	TRIM28	ASXL1	DMRT3	VAMP7	ZFPM2	NR0B1	CDKN1C	REST	H19	BUB1B	GATA4	SOX9	KCNQ1OT1	PTCH1	MAP3K1	EXT2	IGF2	FIBP	BUB1	HDAC4	NR5A1	KCNQ1	PAX6	BMPER	TRIP13	GPC4	PIK3CA	PALB2	SETBP1	DHX37	NSD1	SPRED1	POU6F2	TP53	BLM	BUB3	ALX4	WWOX	CEP57	PHF21A	TRIM37	SRY
HP_ABNORMALITY_OF_FACIAL_SOFT_TISSUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FACIAL_SOFT_TISSUE	NPHS1	MECP2	MYO9A	AGRN	OPA1	MT-TE	XPNPEP2	CLCN4	GIPC1	MGAT2	HK1	GPC3	COL6A1	DNM1L	AP4B1	TCIRG1	GTF2I	SUMF1	KLHL41	DES	ACTB	CTLA4	NCF1	CHRNE	COL6A2	ALG2	MTMR2	ZNHIT3	ADSS1	ANKH	RAB11B	TSC2	RYR1	YY1	EIF4H	MPZ	ABCA1	TGFB1	ZMPSTE24	AMER1	ADCY6	BAP1	SYT2	SUCLA2	GPC4	SLC25A4	BIN1	SLC25A1	MSTO1	RNASEH1	WT1	MYH7	EYA1	TWNK	SMARCE1	DSE	TECPR2	MSH6	PAX2	MTRFR	SLC5A7	EBF3	BMS1	ATP13A2	ALS2	NEFL	COLQ	TRAF7	TSC1	CHD7	ALB	NEU1	ESCO2	ASAH1	STRADA	POLG	SLC18A2	LAMA2	TREX1	COL5A2	LARGE1	TG	PEX5	SLC26A2	FOXG1	F12	SYNJ1	SEMA3E	GLE1	GNAQ	SLC52A3	SDHD	TPM3	ITGA7	SOX18	SH3TC2	NRAS	RECQL4	MSH2	FLNC	SBF2	COX6A2	PLEC	ACTA1	SNCA	LMOD3	SLC18A3	POU3F3	GFPT1	SDHC	SHANK3	ARHGEF6	IRF2BPL	PPP2R1A	BCL7B	AP4S1	KY	MTMR14	ATP1A3	IQSEC2	HLA-DPA1	FKRP	CRYAB	SPTBN1	KNSTRN	AP4E1	CHAMP1	PSPH	MLH1	COL6A3	IYD	CACNA1A	NUP37	GJA1	GJC2	SLC6A3	TP63	ADA2	CHRNB1	SLC39A14	POR	ZNF711	POLG2	POGZ	FRG1	PLCE1	DOK7	MAP3K20	IFNG	KCTD1	CHRNA1	POU1F1	SCN1A	GNE	HOXB1	RAPSN	TERT	POMT1	METTL27	PDGFB	AKT1	SMCHD1	DHCR7	KRT17	USP9X	AMPD2	USF3	CAMTA1	MYD88	NUP160	ALG14	PIK3CA	TPM2	GAPVD1	CC2D1A	FBXO7	DMPK	CHKB	MEN1	ASXL1	CAMK2G	BAG3	CADM3	PLG	PLA2G6	KCNJ6	PEX11B	CD2AP	COL13A1	GLI3	MUSK	SPEG	ADCY5	ELN	VPS13B	TUBB6	RFC2	FKTN	NGLY1	EMP2	PIEZO1	MYPN	MAGI2	SLC52A2	DCTN1	DLG3	TNFRSF1A	COL1A1	BICRA	FKBP6	MYMK	POMP	SLC30A10	SOST	DNM2	GBA	SELENON	CLCN7	XYLT2	STAC3	LRP5	NLRP1	BTNL2	KCNK9	PLCD1	ERCC6	DNAJB6	PEX6	FRMPD4	CNTNAP1	TGFBI	KLLN	RASA1	BUD23	ANAPC1	ZBTB11	RAB39B	PI4KA	TK2	REV3L	NECTIN1	DPAGT1	DNAJC30	PODXL	HS3ST6	ATP1A2	GNA14	ABCC9	PPP2R2B	NEB	CD96	SLC25A42	COL4A1	EPHB4	AGTR2	GIGYF2	VPS37D	PEX14	CRLF1	CFL2	PPP1CB	KIF1A	SPTBN2	PRTN3	PIK3CD	SLC25A21	PTDSS1	HACD1	CHRND	EIF4G1	CACNA1S	ZFHX4	SLC1A3	FRMD4A	SLC29A3	HLA-DPB1	KLHL40	TRPV4	PEX13	PEX19	ADGRG1	ABCD1	DNA2	TUBB3	AP4M1	ARHGAP24	YARS1	COL25A1	USP27X	PLXND1	PURA	ZNF81	ANGPT1	FTL	PAK3	CHCHD10	HLA-DRB1	RIN2	DNMT3B	TTN	MLXIPL	SUPT16H	TBC1D8B	KDM4B	LRP4	MYL2	PEX1	VCP	DNAJC6	KRAS	AIP	RRM2B	TSHB	MGME1	SRPX2	TRIM32	HAVCR2	ZNF41	SLC19A3	GDI1	LIMK1	FTSJ1	KCNK4	ACTG1	GSN	GNPTAB	TFAP2A	LRP12	PSMB8	KBTBD13	ANTXR1	NUP85	ZMIZ1	IRF6	PROP1	SCN4A	JAM2	ITGB4	SIX1	NF2	NUP107	ANO5	LRRK2	MYO1E	SLC9A7	PPP2R5D	SNAP25	SMO	CDH11	COL4A3	PAX7	KAT6A	MYOF	SALL4	DNAJC13	MT-CO3	PTRH2	CCBE1	MYL1	SLC12A6	CNKSR2	LRIF1	GAA	MTM1	ATXN1	LAMB2	LHX4	LHX3	POMT2	ERCC8	TPP2	CHAT	DMD	TET3	WASHC5	SURF1	ACSL4	SMARCB1	LMNB2	PTPRO	NOTCH2NLC	MYOT	GAN	GDAP1	IGSF3	PSMB4	CAPN3	SYP	TXNL4A	HERC1	SETBP1	SUFU	PEX2	SQSTM1	TSPAN7	DUOXA2	LMNA	CRB2	COL12A1	MED12	ANLN	TBL2	PRRT2	LTBP4	PTPN22	PEX16	HRAS	STAG2	SEC23B	CRPPA	IL1RAPL1	SNX10	ATP6AP2	ACTN2	PABPN1	TMEM270	VAMP1	NUP133	MEGF10	SPTBN4	PEX12	GMPPB	NUP93	OFD1	KDM5C	PSMB9	MID2	STX1A	BAZ1B	ACADS	PUF60	DLL4	DUX4	MAN2B1	ADAMTS2	KPTN	ARX	ALG13	STEEP1	SNX14	MT-TN	GPR101	NPHS2	PLAA	COQ8B	GTF2IRD2	CLCF1	PPARG	CCDC22	PCGF2	SYNE1	UBA1	DUOX2	NOD2	HESX1	UNC80	YME1L1	PTEN	PEX10	PEX3	APOL1	SCO2	NUTM2B-AS1	LPIN1	TPO	MSX1	MED12L	VPS35	KNG1	UPF3B	SGCD	RPS6KA3	MT-CO1	SLC35C1	NUP205	PEX26	COL5A1	ZC4H2	POLR3A	ACTN4	SHMT2	JAG2	PTCHD1	SPR	GRIA3	AK9	SLC5A5	ARHGDIA	TRPC6	SDHB	ANKFY1	CLIP2	TNFSF11	INF2	PRKCG	ADAMTS3	GTF2IRD1	NARS2	SIX5	HCFC1	SERPING1
HP_MIDFACE_RETRUSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MIDFACE_RETRUSION	CANT1	FAM50A	SMAD4	CHD3	TGFB3	GDF11	MLXIPL	ROR2	CLCN4	RRAS	CDKN1C	RAC3	CDC42	RIT1	CEP120	EBP	CTCF	RAF1	ZNF41	PITX2	KCNQ1OT1	AIFM1	CTSK	ZNHIT3	SIX3	GDI1	ERF	FGFR3	IGF2	FTSJ1	MEGF8	RYR1	HDAC4	PRKAR1A	HSPA9	COL11A2	RUNX2	POLR1C	ANTXR1	HCCS	ZMIZ1	PROP1	ALG12	LIFR	PRKCZ	POP1	USB1	FIBP	DSE	LMNA	TWIST1	NF1	DLX4	UBE4B	FGFR2	LZTR1	DDR2	RNF13	LBR	NECTIN1	SLC9A7	BICD2	KMT2C	LRP2	KAT6A	SEC24D	CILK1	CNKSR2	DVL3	PEX1	DDB1	SLC26A2	CHD1	CHST3	SLC25A24	NSMCE3	EHMT1	LRPPRC	SMC1A	FZD2	GMNN	LHX4	B4GALT7	POLR1A	LHX3	KCNAB2	POR	WDR35	MRAS	POLR1D	IREB2	DMD	ARHGEF6	BMP2	WDR73	POU1F1	FOXC1	B3GALT6	ACAN	COG1	CLCN3	MECP2	TCF12	IQSEC2	TONSL	CPLX1	ACSL4	SP7	DHX37	SOS1	TCF20	FAM20C	RAI1	COL11A1	MMP23B	SYP	KIF15	NEPRO	SETBP1	SOST	PDPN	IFT81	ZNF407	TBX1	H19	ZNF711	ATRX	AGL	TMEM165	PIGV	PRDM16	PLP1	POGZ	TSPAN7	PDGFRB	MTOR	OBSL1	NXN	NRAS	SOS2	ZIC1	RAB3GAP1	MED12	HOXB1	IFT52	ITCH	PTCH1	BRF1	PTRH2	RAB3GAP2	FGFR1	FAT4	DVL1	USP9X	AMPD2	TBL1XR1	LTBP4	PRKACA	GLI2	PDE4D	RASA2	RFWD3	ANKRD17	HSPG2	IL1RAPL1	DCHS1	CUL7	SPEN	RERE	FLNB	COL2A1	PKD2	NFIX	CCDC47	MAN2B1	BPTF	KRAS	ACP5	PPP2R5D	DLG3	HECW2	B3GAT3	BUB1B	EFTUD2	FBN1	MGP	PRR12	MRPS14	KIF22	BICRA	ZBTB20	SPRED2	FLNA	MID2	ELN	TSR2	TMCO1	BMP4	P4HB	CDK19	BCL11A	STAC3	PIK3R1	COL18A1	OTUD5	CSGALNACT1	RAB23	SHH	EPB41L1	CASZ1	FRMPD4	POLR1B	ARX	RRAS2	ALG13	GHR	RAB39B	UBE2A	STEEP1	SATB2	TCOF1	FLII	MIR140	TSEN54	HNRNPH2	MYSM1	MED13L	SEC23A	CCDC8	AGTR2	POMGNT1	SH2B1	MAF	COL1A1	TUBGCP2	HESX1	DEAF1	WNT5A	YME1L1	SLC6A8	KIF1A	IARS2	SOX11	NKAP	LUZP1	SLC35D1	BANF1	RPS28	PTH1R	OSGEP	WAC	UPF3B	RPS6KA3	LINS1	KCNQ1	ATP6V0A2	LRRC32	COX7B	FOXG1	CDH11	MESD	GRIN1	PYCR1	PSMD12	SF3B4	SATB1	PTCHD1	SON	GABRD	SKI	USP27X	LEMD2	NDUFB11	ZNF81	MN1	ACTB	CBL	PAK3	SMCHD1	WASF1	GPC4	AMMECR1	HCFC1	SERPINH1	PTPN11
HP_HAMARTOMA_OF_TONGUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAMARTOMA_OF_TONGUE	CPLANE1	INTU	TOPORS	C2CD3	OFD1	TCTN3	KIAA0753	EDN1	WDPCP	PDE6D	DYNC2H1	GNAI3	TMEM216	KIF7	FAM149B1	NEK1	TMEM107	TMEM231	PLCB4
HP_BIFID_NOSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIFID_NOSE	ZSWIM6	HYLS1	FREM1	NF1	TFE3	ALX1	ALX4	TBX4	NUAK2	ALX3
HP_TYPE_1_MUSCLE_FIBER_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPE_1_MUSCLE_FIBER_ATROPHY	HNRNPK	SELENON	TPM2	TPM3	EMD	ITGA7	SYNE2	FHL1	HACD1	LMNA	ACTA1	TMEM43	SPTBN4	MYL2	MAP3K20	ALG14	RYR1	SYNE1
HP_DECREASED_PATELLAR_REFLEX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_PATELLAR_REFLEX	MYH7	FBLN5	HADHB	LDB3	HADHA	DYNC1H1
HP_INCREASED_CEREBRAL_LIPOFUSCIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CEREBRAL_LIPOFUSCIN	CLN5	CLN3	PSAP	TPP1	CLN8	PPT1	CTSD	CLN6	DNAJC5
HP_BASAL_ENCEPHALOCELE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BASAL_ENCEPHALOCELE	CDON	SHH	GAS1	FGF8	DISP1	GLI2	FOXH1	PTCH1	NODAL	STIL	TGIF1	DLL1	ZIC2	TDGF1	ALX3	SIX3
HP_SUBMUCOUS_CLEFT_SOFT_PALATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBMUCOUS_CLEFT_SOFT_PALATE	SON	KCNK9	GRHL3	NEK1	STAC3	IPO8	TP63	UBB	POLR3A	NONO
HP_ABNORMALITY_OF_FACIAL_SKELETON	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FACIAL_SKELETON	KAT6A	WAS	AGRN	TBCE	PYROXD1	NALCN	FCGR2A	RTTN	RB1	HYLS1	RRAS	COL1A2	DPM2	RAC3	GPC3	TCIRG1	HSPG2	SPRTN	CHSY1	EXT2	IGFALS	NECTIN1	MED27	TCF3	TAP1	FAM149B1	RUNX2	TGFB1	ZMPSTE24	ERCC3	FANCF	EXOSC5	KATNB1	ERCC4	FANCD2	COASY	PAH	RBM10	ODC1	USB1	IRF6	PRMT7	SRCAP	CTSK	CHRNG	RSPH1	TRIP4	TBCD	CTC1	MYCN	COLQ	OFD1	EMC10	PHF21A	BLNK	LMNA	FGFR2	MITF	FOXJ1	TNNI2	EHMT1	CIITA	TRIP12	DHODH	EDA	LRRC8A	GMNN	NAA10	IGHM	MEG3	RARB	CTNNB1	EFEMP2	ATP6V1A	MAD2L2	KIDINS220	FANCA	CLCN3	IBA57	TGFBR1	FBXW11	PIK3C2A	FAM20C	RPL35A	RAI1	DNAAF6	RTEL1	TCF20	RPS26	NIPBL	CD96	FLNA	PSAT1	PEX12	SOX5	ODAD3	SCYL2	RTL1	TARS1	TONSL	SMS	RPS15A	CSPP1	SEMA5A	ALX3	RLIM	GATA1	ZDHHC9	CFAP298	TGFBR2	GNPTAB	RAB3GAP2	STAMBP	NCF4	MYT1L	HBB	ESS2	FIG4	PKHD1	PKDCC	SPEN	RPL15	ADAT3	RSPO2	KAT6B	RAD21	PLAA	COL13A1	LEMD3	CCDC39	GNAS	ELN	RAB3GAP1	VPS13B	DNAAF11	TBX1	KCNH1	ODAD1	VARS1	KRAS	LIG4	MYPN	ATAD3A	FGFR3	ADAMTS3	MGP	PEX26	OCA2	UBE3A	COL9A2	SOST	HPDL	SLC26A2	RUSC2	PEX5	SPATA5	HELLS	CSGALNACT1	STAC3	CCDC65	DGCR2	PDE4D	ERCC6	EMG1	POLA1	BUD23	TERC	PMM2	FANCE	DNAJC30	DNA2	GRIP1	BRAT1	CHRND	PUS7	SPATA5L1	LGI4	VPS13A	SELENON	FLVCR2	SYNCRIP	KLHL41	PTEN	TWIST1	TUBGCP2	DEAF1	CRLF1	TAPT1	PTCH1	AGO2	RPS19	FGFR1	EMC1	HACD1	TMEM107	PIK3R1	OSGEP	ERCC8	GNAI3	TNFRSF13B	CFAP52	ACAN	MKS1	CXCR4	TRIP13	ACTA1	IQSEC2	EP300	NTRK1	ADGRG1	DVL3	SPTBN1	DOCK3	ATP6AP2	MAPRE2	YARS1	KNL1	PIGQ	ALG14	PLXND1	NDUFB11	PAX3	KAT8	WNT7A	AFF4	ATP6V1B2	BRCA1	MYOD1	PYCR2	TWIST2	COL1A1	KDM6B	APC	EFL1	DRC1	HDAC8	FLNB	PURA	CPE	KDM4B	AIP	SMOC1	SLC6A17	HERC2	EBP	CTBP1	CEP152	TCTN2	MEGF8	NSMCE2	ACTG1	COL5A2	TFAP2A	PSMD12	MTM1	ZMIZ1	CACNA1G	ALG12	PEX7	CENPE	CENPF	RAPSN	AMER1	TPM2	CDK5	TMEM237	MAFB	LZTR1	NCF2	SEMA3E	PIGL	RPL5	TNRC6B	UNC119	ACTG2	UFD1	GORAB	SEC24D	DPAGT1	CCBE1	GHR	CDKN1C	BRAF	PIGT	PRRX1	TMEM70	FGF3	ASPH	SYT2	XPA	DIS3L2	TFAP2B	COL3A1	CRIPT	CEP290	SHOX	PPP1R15B	FHL1	NPM1	SF3B4	AGPAT2	COG1	NUP107	EDNRA	WASHC5	SLC39A14	OCRL	DSE	SOS1	ACTL6A	MSTO1	PSMB4	CPLANE1	SETD5	SETBP1	SHANK3	GSC	NSUN2	MYL2	TGFB3	MAPK1	PEX3	MCM5	NRAS	MUSK	ALX4	NEB	FOXC1	SNRPB	LTBP4	XPC	CD79B	HS2ST1	IGF1	AFF3	PEX1	TBC1D2B	CPLX1	SLC35D1	SIX2	PAX6	EFTUD2	PEX11B	PQBP1	VAMP1	BPTF	B3GALT6	NEK9	SPEG	PGAP3	CNOT3	BIN1	KIFBP	DNAI2	TUBB	DNAAF5	SATB2	KIF7	TAF1	BAZ1B	RFT1	TCTN3	RAC2	WIPF1	RNF168	ERMARD	PLK4	POLE	LBR	TXNDC15	SIN3A	GPR101	UBE3B	SEC23A	PDE6D	ERBB3	NOP10	UBE2T	NBN	MRPS22	CHST14	TBX4	C12orf57	ZNF292	ASXL3	FBN1	INTS1	SEC31A	NFIX	RPL31	FCGR3A	TRAIP	MED12	NSD1	RFWD3	ANKLE2	PLCB4	DLG3	ADAMTSL4	B3GLCT	DGCR8	WDR73	TSR2	ERCC2	TOE1	CLIP2	GTF2IRD1	OTUD6B	CEP55	RNU4ATAC	BTK	COG7	CWC27	PRKACB	CDC6	FLCN	SFRP4	CCDC88A	FRMPD4	GTF2I	CTLA4	ARSL	ZNHIT3	ERF	ANKH	DOCK6	AHDC1	ELANE	HCCS	IGKC	GPC4	INTU	MPLKIP	IGF2	SLC25A1	ALG1	LETM1	PTPN22	DLK1	MAN1B1	TAFAZZIN	EYA1	YY1	HYDIN	OBSL1	DLG1	LRP2	SALL4	NGF	MYO18B	COLEC11	SMAD3	PTCH2	NEK1	DNAH1	FOXE1	CAVIN1	SLC25A24	SH3KBP1	SLC12A2	TBCK	SMC1A	FUT8	RECQL4	AIMP2	WDR35	MAPK8IP3	MRAS	HNRNPU	ZNF335	BUB1B	LARP7	ZEB2	CFAP300	NDP	AP4M1	ABL1	RPS10	WDR26	TASP1	ATP10A	HNF1B	ATRX	AUTS2	PIGV	POGZ	CHD7	RAB18	ARID1B	MSX1	VPS53	PIGN	DNAJC21	NHS	HOXB1	IGLL1	NSD2	GLE1	MYH8	COL6A2	RPGR	CCDC32	FAT4	TBL1XR1	ARL6IP6	LRBA	HBA1	FGD1	PREPL	PIGF	ASXL1	KCNJ6	TRRAP	RYR1	PIEZO1	SLC35A3	INPPL1	PRKG1	SIM1	STEEP1	PTPN2	PRR12	KIF22	DNAAF4	KIAA0753	DOK7	MYMK	HMGA2	BMP4	ERCC5	ATR	KCNJ2	RFX5	TNFRSF13C	NFKB1	PGAP2	LRP5	FOXP1	PTH1R	BLM	ZBTB11	NONO	PI4KA	RAD51C	RFXAP	TCOF1	PCNT	COL2A1	IL2RG	TNFRSF11A	COL11A1	RPS24	GFPT1	CDT1	LAGE3	COL11A2	PLOD3	TRIO	POMGNT1	MAF	EDN1	PRTN3	NUP88	CEP135	COG6	ARX	ADAMTS2	TRPS1	HLA-DPB1	POLR1B	RDH11	CCDC103	ANKRD11	DYM	SKI	CC2D2A	PYCR1	UBE2A	TERT	CHRNA1	BRCA2	DYNC2H1	NXN	CEP57	IVNS1ABP	GRHL3	AKT1	SNRPN	AEBP1	DNAL1	GATAD2B	NOTCH3	MLXIPL	SUFU	GDF11	MOGS	ABCD4	ROR2	ZBTB18	SMAD4	MCTP2	SRPX2	CD79A	PITX2	KCTD1	TTC12	DGCR6	PRKAR1A	PSMB8	VAC14	PGM3	PUF60	BGN	GAS8	NF1	CYBB	DNAAF3	HDAC4	ARCN1	ARVCF	TPM3	KIF14	SUZ12	SNAP25	CREBBP	NOTCH2	HUWE1	IDH1	SLC12A6	SPEF2	MFAP5	TANC2	TP63	AP3D1	FZD2	LAMB2	DDX6	DNAI1	DOCK8	BCAS3	POR	BSCL2	RPS20	POU1F1	CSNK2B	SP7	MYBPC1	GPC6	IFT43	KPTN	CR2	NSDHL	DNAAF1	UPF3B	FARS2	CLCN7	AGA	GTF2H5	HS6ST2	RPGRIP1	COL12A1	LAS1L	POMT2	PEPD	CHN1	PRKACA	STAG2	CDC73	ALX1	FGFRL1	ANK1	CCNK	SPECC1L	DYRK1A	DPYD	STAG1	STXBP2	BRIP1	AIFM1	PEX10	PAX1	SOX6	DLX4	ATRIP	SSR4	NUP133	SETD2	ZBTB20	STX1A	SCARF2	RSPH4A	P4HB	RAB23	RPL11	ITGA8	ADAMTSL2	NEK10	MTHFR	SLC18A3	SLC9A6	DHCR24	GBA	PIEZO2	MINPP1	JMJD1C	BCR	GTF2IRD2	MTX2	GJA1	INSR	DNAAF2	UBA1	PIGO	PTPN11	PRKCD	IL21R	CLCN4	TRMT10A	TBX15	MAP2K2	ATP6V0A2	TGFB2	CFAP45	COL5A1	EZH2	AP2M1	PIGA	CD19	STAT4	IFT80	WNT3	DNMT3B	DNAH11	TAP2	TNFSF11	ORC4	SMCHD1	ATPAF2	CYBC1	C1R	JARID2	LARGE1	RERE	FAM50A	FKTN	NTNG2	UNC80	MECP2	MYO9A	EED	CCDC40	MAT2A	SMG8	MGAT2	TAT	RIT1	FANCC	CEP120	PLA2G6	PNP	FBN2	EIF4H	PIGW	IDUA	CTU2	LIFR	UBB	MYLPF	B9D1	SLC2A10	WDR4	RSRC1	XRCC4	HMX1	OTX2	RSPRY1	RPL10	BRCC3	CASK	FAM111A	BICD2	TAPBP	ESCO2	CRKL	IRF2BP2	ARNT2	CILK1	SLC6A9	ATP7A	SC5D	LRP4	SMC3	CHST3	PTPN23	B4GALT7	TPRKB	ERCC1	CRPPA	POLR1D	COG4	PEX6	RPL27	HRAS	RSPH9	PSPH	WDFY3	SLC25A19	ALMS1	ECEL1	DYNC2I1	D2HGDH	DNAH5	FUCA1	TELO2	HYOU1	BCORL1	DNAJB13	METTL27	DHCR7	TRIP11	PPP1R12A	MYH11	RPS6KA3	TMCO1	FTO	PEX16	ERGIC1	CENPJ	IDS	BDNF	GALNS	TENT5A	C2CD3	MAN2B1	SPAG1	COG8	KMT2E	RBBP8	FKBP6	PIGB	BRD4	RNF113A	SRP54	OTUD5	SNIP1	GLI2	PIK3CA	KCNK9	TGDS	SH3BP2	MSL3	PUS1	GLI3	TCF7L2	PHIP	CLCF1	PEX14	IGBP1	TSEN54	CLTCL1	SOX9	VPS37D	POC1A	LOXL3	KIF11	IARS2	FDFT1	SMAD2	IGF1R	PTDSS1	TFE3	TMEM67	IL11RA	ADA	PIGU	LRRC32	MYLK	HYMAI	MESD	IFIH1	ORC6	HEY2	XRCC2	THOC6	KCNE5	SETD1A	ACTB	IKBKB	ADA2	TNNT3	SERPINH1	CANT1	ORC1	PIGG	TTN	ZMYND10	ICOS	RIPK4	ODAD2	ZBTB24	RAF1	SIX3	CNTNAP1	OSTM1	SPRED1	CHRNE	NUP188	KBTBD13	ANTXR1	TBX22	FMR1	RPS28	DCHS1	CTDP1	SIX1	RPL35	FKRP	FANCB	TNPO2	NEXMIF	CUL4B	EDEM3	EXOC7	ADAMTSL1	ARID2	BPNT2	MDM4	HIRA	CFI	MCIDAS	PALB2	CHAT	ARHGAP29	COL6A3	FANCG	FGF10	IGSF3	RPGRIP1L	HDAC6	CUL7	HERC1	PDGFRB	GAS2L2	SOS2	SEC24C	CDCA7	PSMC3	NHP2	TRIM37	CDC45	COL9A3	TMEM231	ANKRD17	MYH3	B9D2	EXOSC1	GAD1	NCF1	TMEM216	KDM6A	SATB1	NUP85	DDB2	KIAA0586	MAP2K1	TAB2	FOXF1	CCNO	MAGT1	OCLN	CAV1	SLX4	PSMB9	ASXL2	HBA2	RFXANK	SMO	MIR140	RRAS2	ATM	PRKG2	MEN1	MPDU1	CCDC22	SVBP	FOS	PCGF2	YARS2	MED13L	COL9A1	STRA6	PEX2	GEMIN4	STK36	ALG9	MBD5	WASF1	RELN	SLC35C1	PPP3CA	ALG11	CTNND2	MAP3K7	SON	TINF2	RPS29	EPG5	GRIA3	RREB1	CBL	EXTL3	SH3PXD2B	RBM8A	DVL1	SIX5	DKC1	COMT	BNC2	TRMT1	RAD51	DPM1	MAMLD1	AMMECR1	TOR1A	NELFA	POLR1C	RPL18	DZIP1L	MMP2	ODAD4	LRRC56	NFKB2	DDR2	ANO5	SLC29A3	GTF2E2	ACTL6B	ATG7	BBS7	MADD	LAMA2	FANCL	DPYSL5	FOXG1	PLAG1	MID1	PHGDH	LRPPRC	KDM5C	ITGA7	NEDD4L	CA2	RHOBTB2	LMOD3	KCNMA1	SLC10A7	BCL7B	CHUK	HLA-DPA1	KCNN3	TBC1D7	NEPRO	TOPORS	GPKOW	POLD1	MED25	APC2	AGL	NARS1	MAP3K20	SBDS	BRF1	MAGEL2	FANCI	SVIL	VPS33B	FBXL3	RFC2	POMT1	UBR7	BICRA	SPRED2	SMPD4	SLC5A7	IRX5	GRIA4	KL	ADGRG6	PLAGL1	IGHG2	REV3L	TCTN1	DSTYK	ABCC9	CFTR	DNMT3A	FLII	HNRNPH2	PRRT2	SLC3A1	WNT5A	CFL2	KIF1A	SOX18	COG5	ANKRD55	BUB1	IL2RA	RNF2	NTNG1	CLIC2	COX7B	SCN9A	IL2RB	WBP11	GP1BB	LTBP3	NDE1	CFAP221	KAT5	PLEKHM1	SRY	DONSON	VPS35L	ABAT	EIF4A3	ZNF341	MED13	LIMK1	CNOT2	KCNK4	RPS17	RPS7	HSD17B4	IRF8	SPOP	EXOC6B	BMP2	PIK3CD	PPARG	CDH11	IL17RA	PAX7	RNF125	COL6A1	RPS27	DDB1	TBXAS1	CNOT1	ZNF699	BCL11B	SLC35A2	POLR1A	RSPH3	GNPAT	ACSL4	PGM1	PALS1	TBC1D20	SLC6A8	PEX19	CD247	TUBB3	NPR3	VANGL2	POLR3A	WT1	MIA3	GLDN	TXNL4A	EXT1	PNKD	TMEM165	GNB2	SLC37A4	GLB1	BUB3	TBL2	C1S	IL1RAPL1	PARN	ASNS	RASA2	FANCM	LOX	CYBA	ADAMTS10	OPHN1	DPH1	TMEM270	NCAPG2	ACP5	PEX13	DYNC2I2	HTT	B3GAT3	TP53RK	ACTA2	BCL11A	DNAH9	SHH	LMBRD2	RPL26	GATA4	P4HTM	RHOA	SH2B1	KCNJ5	ATP6V1E1	BANF1	NME8	FOXE3	BMPER	IPO8	ZC4H2	CSNK2A1	AP1S2	WRAP53	PIGY	LEMD2	MYH7	EIF5A	TRAPPC4	CDH1
HP_BROAD_CHIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_CHIN	KANSL1	SLC12A2	WAC	EBF3	TAF1	DYRK1A	STXBP1	LMX1B	STEEP1
HP_CHIN_WITH_HORIZONTAL_CREASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHIN_WITH_HORIZONTAL_CREASE	DLK1	RTL1	TRPS1	TWIST2	MEG3	FOXP1	EED
HP_ABNORMAL_ORAL_MUCOSA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ORAL_MUCOSA_MORPHOLOGY	FASLG	IL12A-AS1	DKC1	ITGB4	IL12A	WAS	RTEL1	CDKN2B	TBCK	HYLS1	MGAT2	GPC3	TRPV3	TINF2	AGA	ACD	GTF2I	KYNU	NCF1	TERC	LMNB1	IFNG	ROR2	ZNHIT3	KRT5	TERT	TSC2	EIF4H	ANTXR2	FAM20A	CDKN1A	RHOH	ELANE	LAMC2	KRT6B	HLA-B	GPC4	LAMB3	MMP2	KRT6A	ERAP1	PRMT7	SPP1	DSP	KRT16	CTC1	CASP10	SAMD9	USP8	EVC2	TSC1	NABP1	GORAB	COL7A1	NFIX	ATG7	NGF	RIPK1	KRT14	NHP2	STAT4	ITGB2	DVL3	LMAN1	SC5D	NOP10	MVK	EDA	CDH23	AIMP2	SLC46A1	ZEB2	BCL7B	SLC35C1	ABCC6	DYNC2LI1	LYST	SRP54	ALMS1	FAM20C	MMACHC	KCNN3	IL1RN	WDR26	SLC17A5	PLG	FGG	NLRP3	HYOU1	SBDS	PIGN	NXN	DNAJC21	GP9	METTL27	FGB	JAK2	TMCO1	DVL1	NCF4	MAP1B	GP1BA	FIG4	ATP6V1B2	MYD88	ABCA5	SCARB2	ENG	IDS	CAT	BCOR	KCNJ6	INSR	MEFV	FGA	ELN	IL21	DDR2	USB1	FERMT1	TLR4	GBA	F5	MAN2B1	KCNH1	SOS1	RFC2	TET2	LBR	LAMA3	ITGA6	ADAMTS3	PML	COL17A1	GJB2	REST	FKBP6	ITGA2B	GLMN	C1S	TGDS	VPS13B	PLAGL1	AP3B1	CNTNAP1	BUD23	KIF7	DNAJC30	ABCC9	CLTRN	CD96	CYBC1	ABCD1	CTSC	FAS	SAA1	F10	IFNGR1	VPS37D	RELA	DCLRE1C	WNT5A	NLRP12	KIF1A	C4A	EMC1	B4GALT7	SLC29A3	CXCR4	NOD2	HYMAI	NTRK1	NPM1	MYSM1	FIP1L1	MMP14	IL23R	C1R	PRKDC	F13A1	NAGA	ADA2	KCNMA1	RIN2	AEBP1	IL18BP	SLC6A19	GNPTAB	EFL1	MLXIPL	STK11	TNFAIP3	GFI1	TRIM8	IL6	SMAD4	RIPK4	STAT3	PLEKHM1	PRKCD	KRT4	TBC1D24	LIMK1	OSTM1	KIF23	XYLT1	PLEC	GLB1	KCNK4	GNAQ	F8	F13B	KLLN	VAC14	IER3IP1	PTPRC	STAT5B	MBTPS2	FCGR2C	CYBB	CD40LG	FGFR2	NCF2	MCFD2	NOTCH3	MPL	ELMO2	GLI1	GP1BB	IRAK1	NOTCH2	F2	RNF125	CCBE1	UBAC2	ECM1	CD27	FZD2	HLA-DQA1	RALGAPA1	PDGFRB	SLC37A4	PRKAR1A	PRF1	HPS1	OCRL	PIGS	IL7R	IL10RA	GUSB	MIA3	BLOC1S3	SETBP1	XYLT2	CCR1	EVC	F7	COL3A1	TBL2	PARN	ZBTB16	TCIRG1	CARMIL2	AFF3	TBC1D2B	DHCR7	ITK	CYBA	ITGB3	KRT17	RARA	LMBRD1	TMEM270	BLOC1S5	FAT4	RASGRP1	IL10	STX1A	CDKN1B	BAZ1B	MMP1	ORAI1	NEU1	DSG3	ADAMTS2	TCTN3	WIPF1	USP9X	RMRP	IDUA	DHCR24	SYK	GTF2IRD2	NUMA1	MTX2	MEN1	FGF3	TBL1XR1	ASXL3	IRF9	KLRC4	HLA-DQB1	IRF2BP2	PIGA	ZAP70	WDR1	WRAP53	SH3PXD2B	ACVRL1	CDKN2C	CLIP2	SERPINF2	EXTL3	GTF2IRD1	GJB6	PERP	IL17RC
HP_OVERHANGING_NASAL_TIP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVERHANGING_NASAL_TIP	COG4	TCF4	ATN1	TGFB3	PRKACA	METTL5
HP_MOYAMOYA_PHENOMENON	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOYAMOYA_PHENOMENON	PCNT	RNASEH2B	RNASEH2A	RNF213	TREX1	ACTA2	RNASEH2C	GUCY1A1	ADAR	IFIH1	SAMHD1	BRCC3
HP_ABNORMALITY_OF_T_CELL_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_T_CELL_PHYSIOLOGY	CIITA	SLC39A4	NSMCE3	TGFB1	FASLG	COMT	WAS	CTPS1	ICOS	TBX1	HIRA	RAG2	JAK3	LEPR	RFXANK	LEP	RFXAP	FAS	GATA3	COG6	SMARCAL1	MRTFA	MAGT1	DGCR6	PNP	RFX5	CD19	RASGRP1	AK2	LCP2	TNFRSF13B	UMPS	CR2	PGM3	CASP10	CD3E	ADA	TNFRSF13C	EPG5	CD40LG	DGCR8	DGCR2	ARVCF	SEC24C	RREB1	WIPF1	GP1BB	UFD1	RAB27A	HLA-DRB1	ESS2	CARMIL2	CASP8	JMJD1C	RAG1
HP_PUNCTATE_KERATITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PUNCTATE_KERATITIS	GJB6	PLEC	NLRP1	GJB2	EPCAM
HP_ABNORMAL_STERNAL_OSSIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_STERNAL_OSSIFICATION	FIG4	ORC1	CTBP1	NSD2	CPLX1	FGFRL1	SOX9	NFIX	LETM1	ORC6	VAC14	CD96
HP_ABNORMAL_ILIAC_WING_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ILIAC_WING_MORPHOLOGY	EVC	RTL1	GLB1	SMAD4	RUNX2	PLEKHM1	VANGL1	GPX4	SEC23A	EED	SOX9	TRAPPC2	RIPK4	ERCC8	GALNS	IHH	GPC3	TMEM251	NANS	B3GALT6	ATP7A	CTSK	PTH1R	TBX15	DYM	AIFM1	FN1	COL2A1	EIF2AK3	GNPTAB	FUZ	TRIP11	MMP13	HDAC6	FLNA	GPC4	EZH2	BGN	ARSB	EP300	PEX5	ZBTB20	GNPTG	AMER1	COL11A2	DLK1	MEG3	RAB23	FGFR3	DDR2	GATA1	MATN3	ERCC6	TRPV4	PHEX	PCNT	CREBBP	EVC2	RPS6KA3	VPS33A	SEC24D	CCBE1	IDUA	RNU4ATAC	WNT7A
HP_ABNORMAL_PLATELET_FUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PLATELET_FUNCTION	RASA2	THPO	IKZF5	DTNBP1	VWF	ITGA2B	P2RY12	RASGRP2	FLI1	RRAS	SAMD9L	MRAS	GATA1	ITGB3	GNAS	RIT1	BLOC1S5	RAF1	LYST	TBXA2R	PLA2G4A	KRAS	GP9	SOS1	GP1BA	LCP2	BLOC1S3	NBEAL2	SPRED2	GP1BB	CALR	MGAT2	KCNJ1	CISD2	GUCY1A1	RUNX1	NRAS	SOS2	SLC35A1	AP3B1	WAS	WIPF1	CBL	RRAS2	SH2B3	ABCG8	EPHB2	PLAU	HPS6	LZTR1	PTPN11
HP_IMPAIRED_RISTOCETIN_INDUCED_PLATELET_AGGREGATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_RISTOCETIN_INDUCED_PLATELET_AGGREGATION	IKZF5	GP9	ITGA2B	GP1BA	GP1BB	ITGB3
HP_ABNORMAL_PLATELET_VOLUME	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PLATELET_VOLUME	TTC37	ITGB3	ITGA2B	SC5D	TUBB1	WAS	FLNA	GP1BB	SKIV2L	GATA1	MYH9	ARPC1B	CDC42	SLC35A1	GP1BA	GP9	PRKACG	CD36	LBR	ABCG8	FYB1	ACTN1
HP_ABNORMAL_PLATELET_MEMBRANE_PROTEIN_EXPRESSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PLATELET_MEMBRANE_PROTEIN_EXPRESSION	ITGA2B	GP9	GP1BA	ITGB3	GP1BB	SLC35A1
HP_ABNORMAL_PLATELET_GRANULES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PLATELET_GRANULES	HPS4	BLOC1S5	LYST	IKZF5	SLC35A1	AP3B1	NBEAL2	RUNX1	HPS6	GFI1B	HPS3
HP_ABNORMAL_UMBILICAL_STUMP_BLEEDING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_UMBILICAL_STUMP_BLEEDING	F13A1	SERPINF2	F13B	F10	F2
HP_HEMORRHAGE_OF_THE_EYE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMORRHAGE_OF_THE_EYE	IKBKG	LRP5	GNAQ	PROC	FZD4	ATOH7	ABCC6	RB1	TERT	COL4A1	TSPAN12	NDP	PRF1	APOE	ATP6V1A	GNA11	ENPP1	ATP6V1E1	TERC	IFNG	RANBP2	TREX1	CFHR1	XYLT1	SBDS	EFEMP1	BAP1	CFI	GCDH	XYLT2	CFHR3	ERCC6	HMCN1	ATP6V0A2	CFH	CTNNB1	SF3B1	CAPN5	DNM2	CYSLTR2	BEST1	ZEB2	RS1	ERCC8	ZNF408	MYD88
HP_BLEEDING_WITH_MINOR_OR_NO_TRAUMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLEEDING_WITH_MINOR_OR_NO_TRAUMA	MCFD2	SLC37A4	F13A1	LMAN1	F8	F13B	KRT1
HP_PROLONGED_BLEEDING_FOLLOWING_PROCEDURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLONGED_BLEEDING_FOLLOWING_PROCEDURE	IKZF5	VWF	P2RY12	SLC37A4	GP1BB	F7	ITGB3	F13B	F11	F2	GP1BA	MCFD2	GP9	F5	F13A1	F8	KIF23	SERPINE1	ITGA2B	LMAN1	F10
HP_POST_PARTUM_HEMORRHAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POST_PARTUM_HEMORRHAGE	KIF23	F7	IKZF5	SERPINE1	F5	F13A1	F8	F13B	F10	F2
HP_ABNORMAL_LEUKOCYTE_COUNT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LEUKOCYTE_COUNT	CIITA	IFNGR1	FASLG	LCK	IL7R	WAS	REL	RPS7	GATA1	SKIV2L	RAD51	RIPK1	RAG2	SALL4	LPIN2	RTEL1	PIK3CD	JAK3	TINF2	LEPR	HAX1	IL6ST	PIK3R1	G6PD	RAG1	FANCC	AK2	TERC	IFNG	PNP	TERT	TCF3	TGFB1	ACAT1	LAMTOR2	RPL18	ELANE	ERCC3	FANCF	ERCC4	MPLKIP	FANCD2	USB1	TAFAZZIN	FIBP	HSCB	SPP1	TRAC	CD3D	RRAS2	NFKB2	IKZF3	XIAP	TET2	CASP10	TRAF3	USP8	GTF2E2	CHD7	NABP1	STAT1	FOXN1	DEF6	PRF1	IRF2BP2	FANCG	BLNK	FANCL	ITGB2	BCR	CASP8	CORO1A	SEMA3E	PDGFRB	FDX2	PACS2	TFRC	CA2	LRRC8A	IGHM	FUT8	ANKRD26	SBDS	NLRP3	ARHGAP31	SMARCAL1	STAT3	CDH23	UNC93B1	SGPL1	SLC46A1	SREBF1	LEP	RMRP	MAD2L2	STX11	FANCA	SLC35C1	COG4	SLC35A1	TRNT1	RPL27	PRSS1	TONSL	JAK1	KNSTRN	LYST	MSN	IKZF1	SRP54	RPL35A	MMACHC	RPS10	RNASEH2B	LCP2	IL1RN	TREX1	RPS26	TTC37	UROS	TARS1	RPS15A	MEFV	HYOU1	RAC2	DNAJC21	IGLL1	HMGCL	TLR3	FANCB	CPA1	FANCI	GATA2	LRBA	SP110	ZPR1	IKBKG	SCARB2	RPL15	CARD9	BCOR	MYC	BLOC1S6	HBB	IL37	SPINK1	EXTL3	IL7	IL21	FAS	VPS13B	RPS17	SAMD9L	GBA	DNMT3B	LIG4	LBR	CTLA4	SMARCD2	TCN2	ADAMTS3	TNFRSF1A	PML	FERMT3	PRDX1	CLPB	MS4A1	CALR	TPP2	PCCB	CR2	RFX5	CDC40	DOCK6	NCKAP1L	HELLS	OTUD5	ICOS	RPS19	ATRX	MICU1	BLM	AP3B1	ITCH	ANAPC1	RAD51C	RFXAP	FANCE	MCM10	FOXP3	ATP6AP1	STAT4	SH2D1A	RNU4ATAC	TFR2	SPINK5	IL2RG	NLRP1	CYBC1	BCL11B	MMUT	TDP2	RPS24	CTPS1	MYSM1	PTEN	DCLRE1C	PCCA	NLRP12	ABL1	MMAA	CSF3R	ZAP70	BTK	ADA2	SRSF2	CXCR2	MMAB	UNC13D	ADA	STK4	DLL4	CXCR4	ZNFX1	IRAK4	PPIL1	NPM1	FIP1L1	PTPN22	ATP6AP2	HLA-DPB1	PDGFRA	BRCA2	XRCC2	PRKCD	GFI1	IVNS1ABP	IKBKB	DDX41	HLA-DRB1	ASXL1	AMN	MVK	BRCA1	CASK	SAMD9	EOGT	EFL1	FCGR2A	TNFAIP3	STING1	ABCD4	TBX21	CD8A	XRCC4	CD19	RFXANK	CD79A	TICAM1	ZBTB24	ZNF341	BTNL2	TNFRSF13B	VPS33A	DOCK8	PGM3	JAK2	ALG12	RPS28	PTPRC	CARD10	STAT5B	RAB27A	TTI2	CD3E	RPL35	ARPC1B	CARD11	CD40LG	ERCC6L2	EIF2AK3	BACH2	RPL5	CD247	UNC119	TNFSF12	IRAK1	NRAS	MPL	RPS27	ZNF699	AP3D1	NSMCE3	SARS2	MDM4	SLC37A4	LACC1	DKC1	PRKAR1A	NFKB1	PALB2	IVD	RPS20	FCGR3B	LIPA	PRSS2	MYD88	PSMB4	CAPN3	IL6R	SLC7A7	AGA	GTF2H5	NOTCH1	TBXAS1	PKHD1	CASR	CDCA7	LMNB2	ERCC2	RPL26	GINS1	ZBTB16	TCIRG1	CD79B	PIGA	FANCM	RUNX1	MTRR	ITK	NHEJ1	G6PC3	FBXL4	CD3G	RARA	LMBRD1	BRIP1	FCGR2B	FAT4	RASGRP1	VPS45	ACP5	MAGT1	DOCK2	KRAS	STAT2	CD40	MTHFD1	SLX4	RECQL4	PSMB9	BCL10	OTULIN	GSS	IL2RA	ATM	ADH5	RNF113A	RPL11	JAGN1	HTRA2	CUBN	WIPF1	CD81	TOM1	UBE2A	MECOM	SYK	SEC61A1	NUMA1	CBL	FMO3	UBE2T	NBN	ETV6	TNFRSF13C	CFTR	RPS14	CTRC	CCBE1	LAT	DNASE1	FCHO1	SLC27A4	SF3B1	TBL1XR1	IL36RN	STXBP2	IPO8	SOCS1	RPL31	RFWD3	WDR1	RPS29	EPG5	TSR2	RBPJ	TBK1	RBM8A	CD4	KIT
HP_NEUTROPHILIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEUTROPHILIA	PIK3CD	TICAM1	SLC35C1	SRSF2	ASXL1	ZNFX1	OTULIN	TBK1	TLR3	IL36RN	MVK	UNC93B1	MEFV	RAC2	IL1RN	TET2	KIT	TRAF3
HP_ABNORMALITY_OF_CIRCULATING_FIBRINOGEN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CIRCULATING_FIBRINOGEN	PML	IRF2BP2	STX11	FGG	NUMA1	STAT5B	BCOR	UNC13D	CFH	NPM1	HELLPAR	PRKAR1A	FIP1L1	AHCY	ANK1	EPB42	SLC37A4	STAT3	SPTA1	CFI	RARA	NABP1	XIAP	HAVCR2	SLC7A7	LYST	FGA	NGLY1	PRF1	TBL1XR1	MCM10	SLC4A1	STXBP2	ZBTB16	SPTB	FGB	GNA14	NLRC4	CD46
HP_ABNORMAL_HEMOGLOBIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEMOGLOBIN	YIPF5	RPL15	KLF11	HBB	CYB5A	GATA1	ABCC8	HBA1	HNF4A	PAX4	RPL18	RPS17	RPS7	RPS28	GCK	HBA2	RPL35	RPL11	ATRX	RPL5	HBG2	RPL26	RPS27	HBG1	MDM4	RPS24	MTX2	HBD	SBDS	NEUROD1	RPS20	INS	CYB5R3	ADA2	RPS19	KCNJ11	RPL27	DNAJC21	THPO	RPL35A	RPS10	SRP54	RPS26	CD151	RPL31	NSMCE2	KLF1	BLK	RPS15A	APPL1	RPS29	PDX1	HNF1A	TSR2	EPOR	MPL	CELA2A	CEL
HP_PERSISTENCE_OF_HEMOGLOBIN_F	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERSISTENCE_OF_HEMOGLOBIN_F	HBB	RPL31	RPL15	RPS28	HBG1	KLF1	MDM4	RPS24	SBDS	GATA1	RPS15A	RPL35	RPS29	RPL5	RPS20	TSR2	ADA2	RPL11	RPS19	HBG2	RPL27	DNAJC21	RPL26	RPS27	RPL35A	RPS10	RPL18	RPS17	RPS7	SRP54	RPS26
HP_ABNORMALITY_OF_METACARPOPHALANGEAL_JOINT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_METACARPOPHALANGEAL_JOINT	NOG	HFE	POR	PTPN22	ASXL1	MAP3K7	COL2A1	MYLPF	CD247	ANKRD55	NONO	GDF5	IL2RA	GJB6	COL3A1	STAT4	PQBP1	RNF13	FLNA	IL2RB	B3GAT3	CHST3	PTPN2
HP_ABNORMALITY_OF_THE_GLENOID_FOSSA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_GLENOID_FOSSA	DLK1	RTL1	ORC1	LMX1B	DYM	MEG3	TMEM251	SCARF2
HP_CARDIOVASCULAR_CALCIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIOVASCULAR_CALCIFICATION	LDLRAP1	ABCG8	ENPP1	NKX2-5	RNASEH2B	SMAD6	SLC34A2	MTX2	GBA	STAT1	PCSK9	ZMPSTE24	PDGFRB	GALNT3	ERCC6	LMNA	ABCC6	IFIH1	ADAR	LDLR	HGD	PDGFB	SLC20A2	B2M	NT5E	RNASEH2A	NOTCH1	GATA5	TREX1	RNASEH2C	ERCC8	APOB	ABCG5	FBN1	SAMHD1
HP_ABNORMAL_ACTIVITY_OF_MITOCHONDRIAL_RESPIRATORY_CHAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ACTIVITY_OF_MITOCHONDRIAL_RESPIRATORY_CHAIN	NDUFB3	NDUFA1	MRM2	SLC25A4	TIMMDC1	NDUFB9	NDUFAF6	NDUFAF5	NDUFV2	NDUFA13	IBA57	NDUFS3	COA3	NDUFA4	NDUFAF4	NDUFB11	NDUFV1	PET117	BOLA3	FOXRED1	SDHA	MRPS25	MT-ND3	SUCLG1	NDUFA9	PET100	NDUFS4	QRSL1	NDUFA10	SUCLA2	MRPS14	COX5A	CARS2	NDUFS7	NDUFAF2	NDUFS2	SLC25A10	GATC	DGUOK	COX16	NDUFS6	LIPT1	NDUFB10	SURF1	MTFMT	NDUFAF1	ATP5F1E	NDUFAF8	TXN2	NFS1	NDUFA12	TK2	LRPPRC	NDUFAF3	NDUFS1	TACO1	MT-ND2	TSFM	GFM1	SLC25A26	COX6A2	NDUFS8	SDHD	SLC39A8	COA6	NDUFA11	COX20	KARS1	SDHB	PDHA1	NDUFA8	NFU1	NDUFA6	TIMM50	TMEM126B	NDUFA2	PTCD3	EARS2	MRPL12	ECHS1	TRMT5	MT-ND1	GTPBP3	GFER	ISCU	ACAD9	COA8	NDUFC2	MT-TE	COX4I1	SLC19A3	COX15	NUBPL	MIEF2	MRPS23	TRMU	TIMM22
HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_I	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_I	TSFM	NDUFB3	NDUFA1	MRM2	GFM1	TIMMDC1	NDUFB9	SLC25A26	TXN2	NDUFAF5	IBA57	NDUFS8	NDUFS3	NDUFAF4	NDUFB11	NDUFV1	FOXRED1	NDUFA11	MT-ND3	NDUFS2	SUCLG1	NDUFAF8	NDUFS4	NDUFB10	QRSL1	NDUFA8	CARS2	NDUFS7	NDUFV2	NDUFA6	TMEM126B	SLC25A10	GATC	PTCD3	EARS2	MRPL12	NDUFS6	MT-ND1	GTPBP3	NDUFAF1	ISCU	ACAD9	NDUFAF2	NDUFC2	MT-TE	NDUFAF3	NDUFS1	NUBPL	MIEF2	MT-ND2	MRPS23	TRMU	TIMM22
HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_III	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_ACTIVITY_OF_MITOCHONDRIAL_COMPLEX_III	TSFM	ISCU	CARS2	GFM1	NDUFS4	SUCLG1	TXN2	GATC	NFS1	EARS2	MIEF2	QRSL1	TIMM22
HP_SHORT_DIGIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_DIGIT	LMNB2	OFD1	NTNG2	KAT6A	LZTFL1	CCDC28B	CLCN4	RB1	MSX2	SALL4	RRAS	GPC3	BBS4	RIT1	BCOR	CHSY1	MED27	IFT140	HDAC4	FAM149B1	PIGW	RUNX2	UBE2T	TCF12	PAH	BMPR1B	FZD2	DYNC2H1	PRMT7	WDR19	CTSK	BRIP1	TWIST1	RAD51C	GNAS	RSPRY1	MYCN	RPL10	EVC2	HOXD13	LBR	ESCO2	EMC10	CRKL	CILK1	HESX1	KDSR	GJA1	SMC3	SEMA3E	PTPN23	EHMT1	PNPLA6	TRIP12	SDHD	FANCC	SNX14	GMNN	SMARCB1	NLRP3	WIPI2	CPLX1	SDHC	COG4	RPL27	SMC1A	KNSTRN	KDM6A	DYNC2LI1	FBXW11	WDFY3	PIK3C2A	ALMS1	FAM20C	RPL35A	RAI1	TCF20	RPS26	FLNA	IFT81	KCNA1	PDE4D	ZNF711	TONSL	TELO2	ARID1B	RPS15A	WDR35	PITX1	IFT43	JAG1	CSPP1	ALX3	MEIS2	BCORL1	RLIM	GATA1	LMNA	ZDHHC9	RNU4ATAC	KCNN3	MAP3K7	AKT1	DHCR7	TGFBR2	GDF5	PIGN	STAMBP	FLT4	ALOXE3	USP9X	DYRK1A	MYT1L	FTO	USF3	FIG4	PKDCC	SPEN	RPL15	NOG	RAD21	COL2A1	DHODH	ATP6V1B2	KCNH1	FGFR3	FAM111A	KRAS	KMT2E	HOXA13	MEGF8	SIK3	MGP	PIGB	BRD4	POMP	GDF6	HPDL	FANCD2	SLC26A2	EDA	SMARCD1	DOCK6	DCPS	CSGALNACT1	EPB41L1	GATA5	KLLN	PDE3A	ALG6	GRIP1	ACTL6B	GLI3	CHRND	TCF7L2	PNKP	PUS7	FLI1	GDF1	SYNCRIP	SCN1B	POC1A	DEAF1	PTCH1	IARS2	AGO2	PPP1CB	RPS19	PTDSS1	GGCX	PIK3R1	PHF6	ADAMTS10	EIF2AK3	DLL4	ACAN	ANTXR2	DVL3	SPTBN1	PIK3CA	BBS5	CHST3	ZIC1	USP27X	TAF1	PLXND1	LIG4	KAT8	IFT172	ACVR1	SETD1A	ZNF81	KIAA0753	MECP2	AFF4	RPS6KA3	COX4I1	ACP5	SVBP	LRP4	PIGK	EXOSC2	KCNJ2	PTPN11	CANT1	PIGG	DYNC2I1	HDAC8	COMP	IFT122	RIPK4	SNRPN	DONSON	KDM4B	ASAH1	RAF1	CTBP1	C12orf57	FGFR2	COL11A2	TFAP2A	PSMD12	PRKAR1A	CEP120	TBX22	ZMIZ1	FGD1	TBC1D24	RPS28	PRKCZ	TBX3	CDKL5	CCDC32	FANCI	RPL35	PIGL	RIN2	SHOX	ABCC9	RPL5	SCUBE3	TNRC6B	NEXMIF	LTBP2	CUL4B	GHR	CDKN1C	DYNC2I2	ARID2	BPNT2	GPX4	LHX4	TFAP2B	CRIPT	KCNAB2	IHH	ARL6	PIGQ	DMD	GJB3	WASHC5	FGF10	ZMPSTE24	PIGS	ACSL4	SOS1	ACTL6A	BMP2	ARX	CUL7	CPLANE1	SETBP1	PDPN	NOTCH1	KLF13	NSUN2	TSPAN7	RAB23	PDGFRB	MAPK1	ADA	NRAS	SOS2	MED12	MASP1	HS2ST1	ANKRD17	RTL1	SRCAP	HSPG2	IL1RAPL1	MBTPS1	POGZ	TMEM216	SATB1	ABCA12	AHSG	NIPBL	DCLRE1C	KIAA0586	PTH1R	DYM	TRPV4	TRIP11	PGAP3	PCYT1A	PIGY	HBA2	CHD7	KIF7	MEG3	INPP5K	RRAS2	PRKG2	SIN3A	ROR2	TCTN3	CCDC22	PDE6D	KCNJ8	FGFR1	FANCF	SOX11	PTEN	UPF3B	FBN1	WASF1	GPC4	PPP3CA	ZMYM2	RPL31	GJA5	SF3B4	PTCHD1	BHLHA9	RPS29	B3GLCT	RPL11	NEK1	TSR2	IQSEC2	CBL	EXTL3	RMRP	DVL1	CEP55	HCFC1	SPART	CWC27	SMAD4	IL7R	PRKACB	CITED2	BBIP1	TRMT1	EOGT	RAG2	ITGB6	NKX2-5	SCN2A	NKX2-6	ARSL	DOCK3	KDM1A	NELFA	RPL18	PAX3	RAG1	LETM1	GATA4	ARHGAP31	CHRNG	SMARCA4	FTSJ1	OBSL1	DPYSL5	PTCH2	ERF	GNAO1	PLAG1	SLC25A24	WAC	EFNB1	MAPK8IP3	MRAS	COL10A1	KCNMA1	MTX2	ARHGEF6	SLC35C1	ARID1A	PPM1D	BPTF	RPS10	TASP1	NEPRO	TOPORS	POR	ATRX	PIGV	PRDM16	SMARCE1	MTOR	NXN	POU1F1	SLC2A1	IFT52	NSD2	COL11A1	MAGEL2	TBL1XR1	HBA1	PIGF	CAMK2G	RERE	LSS	SMARCA2	ASXL1	SIL1	SLC12A2	RAB3GAP2	UBR7	SMARCD2	LTBP3	DLG3	BICRA	SPRED2	MYMK	IRX5	GRIA4	HMGA2	BMP4	MACROH2A1	PGAP2	IFT80	RBBP8	FRMPD4	SIK1	RAB39B	REV3L	NBAS	GRM7	PCNT	FLNB	DMXL2	TMEM67	DNMT3A	FLII	RPS24	CASK	AGTR2	TRIO	MAF	WNT5A	KAT6B	ADA2	MKKS	PIK3CD	FN1	RNF2	TRPS1	WNT4	NTNG1	PALB2	RDH11	PAPSS2	PIGO	CNOT3	DLK1	MYSM1	CHRNA1	TTC21B	ADAMTS17	KMT2A	PAK3	FGF9	SUFU	VPS35L	SOX9	NEUROD2	BRAF	ALG8	MCTP2	INPPL1	APC	ZNF41	EIF4A3	MED13	GDI1	SPECC1L	NPR2	CNOT2	KCNK4	CLCN3	IGF2	RPS17	RPS7	VAC14	PGM3	PUF60	SLX4	BGN	PROP1	ALOX12B	KMT2D	POP1	RBPJ	CHRNA7	UBE4B	KDR	SLC9A7	GLI1	BRCA2	NOTCH2	HUWE1	CNKSR2	RPS27	BBS1	FANCE	FANCA	ZNF699	TANC2	INTU	SOX4	DDX6	LHX3	BCAS3	SMARCC2	TBX15	MADD	RPS20	PALS1	EVC	RAC1	DYNLT2B	SHOC2	MMP23B	NIN	SYP	KIF15	MIA3	EXT1	CLCN7	MGAT2	GNB2	BBS9	GNAS-AS1	PORCN	YY1AP1	TBX1	IFT57	AP1G1	MAFB	CHN1	RASA2	SEC23B	TRIM8	ADNP	ALX1	FGFRL1	HHAT	NFIX	IL2RG	PTHLH	RECQL4	AIFM1	LONP1	DPF2	HTT	SLURP1	MIR17HG	KDM5C	ZBTB20	MID2	PLCB3	CASZ1	CHST11	ADAMTS2	ALG13	MECOM	LMBRD2	RPL26	STEEP1	LZTR1	ZFPM2	TNNT3	BCR	MIR140	RHOA	GJB4	MAP2K1	LUZP1	SLC35D1	ATP7A	MRPS16	CSNK2A1	CDH11	GATA6	GABRD	SKI	TBX5	SH3PXD2B	SDHB	PIGP	TRAPPC4	SLC25A22	EDA2R	STX16	JARID2
HP_ABNORMAL_SUPERIOR_CEREBELLAR_PEDUNCLE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SUPERIOR_CEREBELLAR_PEDUNCLE_MORPHOLOGY	KIAA0586	LAMA1	TMEM216	CLCN3	TMEM67	ARL3	CSPP1	NPHP1	FLI1	INPP5E	AHI1	CEP290
HP_ELONGATED_SUPERIOR_CEREBELLAR_PEDUNCLE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELONGATED_SUPERIOR_CEREBELLAR_PEDUNCLE	KIAA0586	LAMA1	TMEM216	NPHP1	CLCN3	CSPP1	TMEM67	INPP5E	ARL3	AHI1
HP_HYPOPLASTIC_FIFTH_TOENAIL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_FIFTH_TOENAIL	SOX11	SOX4	ARID1A	SMARCE1	PPP2R5D	SMARCB1	ARID2	ARID1B	DPF2	SMARCD1	SMARCC2	SMARCA4	HOXA13
HP_RESPIRATORY_TRACT_INFECTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESPIRATORY_TRACT_INFECTION	IFNGR1	NPHS1	ELN	MYO9A	WAS	AGRN	TBCE	TIMMDC1	PYROXD1	REL	CCDC40	FCGR2A	NDN	RIPK1	POLA1	DPM2	TBX20	JAK3	AGA	IL6ST	PIK3R1	DNAAF5	RYR1	SNRPN	COL6A2	TGIF1	TNFRSF13B	PNP	EIF4H	TCF3	TAP1	SELENON	RUNX2	ERCC3	NKX2-5	TTC26	TTC12	SCNN1B	PSAP	FBLN5	USB1	LRRC56	UBB	SCNN1A	UMPS	PAX2	WDR19	ALOXE3	CDON	CD3D	RSPH1	TBCD	CTC1	TECPR2	FGFR1	COLQ	OFD1	TAPBP	ASAH1	GBA	TAF1	ACADVL	CRKL	IRF2BP2	TREX1	BLNK	LTBP1	FOXJ1	CASP8	CORO1A	DNAAF1	EHMT1	CIITA	TSC1	LRRC8A	GMNN	IGHM	SMARCB1	STAT3	MASP2	CPLX1	SDHD	STIL	SLC35A1	SIX3	KNSTRN	RSPH9	KDM6A	CHAMP1	ELANE	LAMB3	SGCG	COL6A3	SGSH	CACNA1B	MSN	SRP54	ALMS1	NUP37	DNAAF6	SFTPB	RTEL1	NFKBIA	NIPBL	DNAH5	PTCH1	FUCA1	GATA4	MAGEL2	ODAD3	ZIC2	TARS1	TONSL	ARID1B	PTCD3	PLCE1	HYOU1	CSPP1	DISP1	DNAJB13	SCN10A	GCLC	METTL27	KATNIP	NPAP1	CFAP298	CREBBP	TRIP4	NKX2-1	NCF4	FLNA	OCA2	SP110	PKHD1	SCNN1G	GAPVD1	PTPN22	PLOD1	IDS	MESP2	MYPN	MYL9	PIK3CD	CHRM3	COL13A1	GALNS	DRC1	CCDC39	IL21	DNAAF11	IL17RA	SPAG1	COL4A6	ODAD1	DNMT3B	NGLY1	CD19	CTLA4	ADAMTS3	CD79B	TNFRSF1A	MGP	FKBP6	FGF8	MS4A1	TPP2	IL2RB	SMARCD1	EGFR	HELLS	ICOS	TSC2	CCDC65	GAS1	PRPS1	PLCG2	BUD23	TERC	PMM2	DNAJC30	MBTPS2	SLC6A14	GLI3	SH2D1A	RNU4ATAC	DLL1	RAG1	FLI1	SIAH1	SNX10	KRT5	IGBP1	CTPS1	VPS37D	AASS	DCLRE1C	GUSB	EP300	SFTPC	LYST	CR2	HACD1	PDHA1	CRLF1	SLC26A2	LIPN	SNORD115-1	ADA	SLC29A3	CXCR4	CFTR	IL2RG	ZNFX1	IRAK4	ARHGAP24	IFIH1	SMPD1	ORC6	PRKCD	LIG4	COG4	DNAH11	GSTM3	LEP	IKBKB	ADA2	AFF4	ACP5	TNFRSF11A	PIGG	EFL1	ZMYND10	ALDH18A1	TBC1D8B	PURA	GFI1	CD8A	ABCA12	FIG4	PET117	ODAD2	ZBTB24	DSG1	CTCF	SERPINA1	STAG2	CLEC7A	LAMA3	GLB1	GSN	COL5A2	RAC2	HLA-DQB1	NUP85	ALG12	AICDA	STX3	PTPRC	VPS51	RELB	UGP2	IDUA	NUP107	RAG2	NCF2	MYO1E	NECTIN1	CD247	GLI2	UNC119	TNFSF12	COL4A3	ALPL	MANBA	CTSC	HLA-DQA1	CARD11	ECM1	PLA2G6	DYNC2I2	CD27	MTM1	SYT2	MDM4	CFI	MCIDAS	INPPL1	CHAT	NPM1	WASHC5	CLCN7	EDNRA	OCRL	HLA-B	SETBP1	SHH	TDGF1	HGSNAT	LEPR	MYL2	SLC25A22	ELP1	MAPK1	GAS2L2	LONP1	ITCH	CDCA7	ERCC2	NHP2	TRAF3IP2	TLL1	TRIM37	CD79A	TCIRG1	NODAL	CCNO	MYH3	TGFB1	NCF1	G6PC3	ZAP70	RFXAP	CD3G	NFKB2	KIAA0586	VAMP1	NUP133	B3GALT6	MAGT1	SPTBN4	HMOX1	KRAS	RASGRP1	MYO5A	NUP93	TRIP11	MTHFD1	DNAI2	SCN11A	PAFAH1B1	DLL3	RPGR	CHD7	RFXANK	IL2RA	BAZ1B	ATM	NEU1	MAN2B1	JAGN1	TCTN3	KPTN	WIPF1	RNF168	CD81	POLE	UBE2A	PLP1	SYK	SHROOM4	NPHS2	COQ8B	HLA-DRB1	CCDC22	TFG	PCGF2	NOP10	FMO3	HERC2	NBN	GLUL	FANCF	TAOK1	CCBE1	FCHO1	STK36	SLC35C1	GAA	SOCS1	TGM1	ACTN4	FCGR3A	FUZ	NEK10	TK2	CSF2RA	IL7R	TINF2	WDR1	EPG5	ARHGDIA	CLIP2	EXTL3	GTF2IRD1	BCL10	RMRP	CD4	BTK	HYDIN	LCK	DKC1	MYO1H	GIPC1	TNNT2	HK1	KANSL1	COL6A1	GTF2I	NFE2L2	AK2	ARSL	DNAAF2	TIMM8A	LMNB1	ROR2	ZNHIT3	SCN9A	SUCLG1	NELFA	LAMTOR2	DZIP1L	CFB	IGKC	NHLRC1	MPLKIP	SDCCAG8	PEX5	SLC25A1	LETM1	WT1	ODAD4	RANBP2	FOXH1	SMARCA4	XIAP	DDR2	DNAI1	GTF2E2	ALB	STAT1	FOXN1	LAMA2	NTRK1	SMN1	TBX6	ERF	NADK2	DNAH1	MID1	SLC25A24	SH3KBP1	TFRC	WAC	ITGA7	NAGLU	OSTM1	PLEC	SLC1A4	SREBF1	BCL7B	MIF	CFAP300	MYOD1	ARID1A	HLA-DPA1	MKRN3	BIRC3	TASP1	NEPRO	SOX11	MED25	MAP3K20	SBDS	PIGN	NXN	DNAJC21	IGLL1	ACTA1	RSPH3	GATA2	LRBA	ATP6V1B2	NUP160	COL5A1	EFEMP2	ASXL1	CEACAM6	POLR2A	KCNJ6	IL12RB1	TP73	CD2AP	PLG	DNAAF4	SLC41A1	SLC46A1	PANK2	USP9X	RAB3GAP2	RFC2	EMP2	CD55	MAGI2	SMARCD2	CYBB	TYK2	ABCA3	TPM2	SLC5A7	UNG	RFX5	TNFRSF13C	NFKB1	FOXP1	SDR9C7	IGHG2	BLM	AP3B1	CTBP1	LTBP3	ACTC1	FOXP3	TRAIP	PCNT	CYBC1	MYSM1	SAMD9L	KIF1A	PRTN3	PEX13	CYP4F22	SMARCA2	TBC1D24	PEPD	HLA-DPB1	CFAP410	EXOSC9	ARSB	CCDC103	KCNN4	SATB1	B2M	CSF2RB	TERT	PRKDC	IVNS1ABP	GRHL3	SNORD116-1	MCM4	COG6	CFAP221	EDARADD	GNPTAB	FLNC	MLXIPL	STING1	ARID2	TET2	ZNF341	LIMK1	VPS33A	COL11A2	PSMB8	DOCK8	PGM3	KAT6B	IER3IP1	KMT2D	IRF8	CARD10	GAS8	NOS1	CD3E	CD40LG	DNAAF3	SLC26A9	BACH2	IL17RC	NSD2	TPM3	KIF20A	SNAP25	NOTCH2	NRAS	IL17F	DCTN4	RNF125	IDH1	SLC12A6	FCN3	HPS6	SPEF2	ZNF699	AP3D1	LRIF1	NIPAL4	TNNI3	SOX4	LAMB2	SMARCC2	CACNA1C	SAMD9	EPM2A	LAMC2	FCGR3B	SMC1A	ALOX12B	RAC1	MECP2	PTPRO	TBC1D23	NOTCH2NLC	POLR3A	IL6R	SLC9A3	TNFSF11	P4HA2	GTF2H5	SLC34A2	MGAT2	SMARCE1	CRB2	ANLN	TBL2	PWAR1	PARN	DYM	CARMIL2	CYBA	ADNP	GNS	CLCA4	NFIX	IKZF1	STXBP2	TMEM270	DNAL1	FAT4	HFE	ATP6V0A2	DPF2	KDM5C	SIM1	STX1A	RSPH4A	CITED2	DNAH9	RNF113A	COL4A5	SLC18A3	TOM1	SIK1	MYH6	ITGA3	P4HTM	CEACAM3	BCR	GTF2IRD2	MIR140	SNAP29	GATA6	IL21R	TRPS1	LAT	APOL1	NME8	PWRN1	SULT2B1	PKP1	NUP205	SPINK5	WRAP53	SLC11A1	TRPC6	PPP1R21	ANKFY1	TAP2	NDUFC2	INF2	SLC52A3	MALT1
HP_RECURRENT_ACUTE_RESPIRATORY_TRACT_INFECTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_ACUTE_RESPIRATORY_TRACT_INFECTION	SLC35C1	ELN	PLEC	SDCCAG8	TAP1	TAPBP	TAP2	FBLN5	ALDH18A1	PLCG2
HP_ACUTE_INFECTIOUS_PNEUMONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_INFECTIOUS_PNEUMONIA	SCNN1G	SCNN1B	CSF2RB	SCNN1A	CSF2RA	CFTR
HP_ASPIRATION_PNEUMONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASPIRATION_PNEUMONIA	PTCH1	MYO1H	PURA	ARID2	GIPC1	SHH	NFIX	PANK2	KIAA0586	FIG4	ZIC2	SIX3	TBC1D24	AFF4	TIMM8A	COL4A6	TGIF1	STAG2	STIL	DPF2	CDON	GLB1	HLA-DQB1	GLI2	NHLRC1	TPM2	KMT2D	FGF8	PAFAH1B1	UBB	NOS1	SMARCD1	FOXH1	DLL1	SMARCA4	COL4A5	FGFR1	GAS1	TPM3	TAF1	NTRK1	PMM2	HLA-DQA1	DISP1	PLA2G6	NODAL	TDGF1	NADK2	GBA	MID1	SLC25A24	LRIF1	SELENON	ITGA7	IGBP1	SOX4	TFG	SMARCB1	SMARCC2	SAMD9	SNAP29	EPM2A	SDHD	PIK3CD	SMC1A	HACD1	ARID1A	KNSTRN	KDM6A	PDHA1	CRLF1	NOTCH2NLC	SOX11	LMNB1	SMARCE1	ARID1B	MYL2	PTCD3	MAP3K20	CSPP1	PIGN	LONP1	ACTA1	GRHL3	ASAH1	ATP6V1B2	SP110
HP_RETINAL_PERFORATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_PERFORATION	CTNNB1	PRPH2	GUCY2D	HLA-A	GUCA1A	NDP
HP_SUBSTANTIA_NIGRA_GLIOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBSTANTIA_NIGRA_GLIOSIS	ATXN8OS	FBXO7	GLUD2	NR4A2	MAPT	ATXN3	SNCAIP	ATXN2	LRRK2	ADH1C	TBP	SNCA	PRKN	MT-TT	GBA
HP_NON_OBSTRUCTIVE_AZOOSPERMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NON_OBSTRUCTIVE_AZOOSPERMIA	GNRHR	TSPY1	PROK2	FANCM	TACR3	KISS1R	CFTR	FGF17	TERB1	RNF212	PNLDC1	SYCE1	DAZ3	SPRY4	STAG3	C14orf39	TEX14	RBMY1A1	DDX3Y	TDRD9	MEIOB	KISS1	NR5A1	TAC3	KLHL10	NSMF	NANOS1	TEX15	TERB2	USP9Y	TAF4B	SOHLH1	PROKR2	CHD7	FGF8	TEX11	WDR11	DAZ1	HS6ST1	FGFR1	GNRH1	DAZ4	XRCC2	DAZ2	SYCP3	DUSP6	ZMYND15
HP_OBSTRUCTIVE_AZOOSPERMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OBSTRUCTIVE_AZOOSPERMIA	MEIOB	NR5A1	TEX11	KLHL10	ADGRG2	FANCM	NANOS1	TEX15	SYCE1	CFTR	PNLDC1	XRCC2	CLDN2	C14orf39	SYCP3	TEX14	TDRD9	TAF4B	ZMYND15	SOHLH1
HP_ABNORMAL_CIRCULATING_CITRULLINE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_CITRULLINE_CONCENTRATION	AASS	MT-TL1	SLC25A13	MRM2	SLC7A7	MT-ND4	MT-TW	PCK1	OTC	MT-ND2	CPS1	MT-TV	MT-TK	MT-ATP6	MT-ND5	MT-ND6	MT-ND3	MT-ND1	SLC25A15
HP_DECREASED_CIRCULATING_COPPER_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_COPPER_CONCENTRATION	CP	TMPRSS6	COG2	ATP6AP1	AP1B1	AP1S1
HP_FEEDING_DIFFICULTIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEEDING_DIFFICULTIES	KAT6A	AGRN	TIMMDC1	CACNA1I	NALCN	NCDN	UQCRFS1	RRAS	DPM2	STT3A	RAC3	PRKCSH	RYR1	SNRPN	BCOR	CTNS	HSPG2	TGIF1	CEP41	RAB11B	MED27	IFT140	FAM149B1	TGFB1	SIX3	EXOSC5	KATNB1	SUCLA2	PTCH1	PRMT7	MYT1L	TBCD	RNF13	COLQ	DEF6	STT3B	EMC10	ACADVL	CDON	CC2D1A	ARV1	TRIP12	GLRX5	GMNN	COQ9	TXN2	SMARCB1	MEG3	NDUFS8	CENPT	COLEC10	ATP6V1A	ATP1A2	SDHD	GALC	CLCN3	SMARCA4	IBA57	NODAL	ASPA	FBXW11	DDX6	TCF20	BRAF	ITPA	TRAPPC11	CHAMP1	RMND1	LRP5	PEX12	UBA5	NDUFAF2	SOX5	MTHFS	SCYL2	RTL1	POLA1	ARID1B	IGF2	DEGS1	CSPP1	SYT1	GTPBP3	DISP1	RLIM	ALDH6A1	GALNT2	RAB3GAP2	DYRK1A	MAGEL2	HBB	OCA2	PKHD1	PBX1	ADAT3	KAT6B	RAD21	PLAA	COL13A1	NDUFAF4	WNK1	VPS13B	TBX1	RNF6	KRAS	NUP214	OFD1	MYPN	ATAD3A	ARSA	QRICH1	PDSS2	NLRC4	PEX26	CLPB	NDN	CEP104	FGF8	UBE3A	PCCB	HPDL	SET	SMARCD1	PEX5	SPATA5	HIBCH	STAC3	RAI1	GAS1	EMG1	PMM2	ALG6	PUS7	TLK2	MFF	FLI1	CYP11A1	SETD1B	CNP	SYNCRIP	KLHL41	AASS	FOXRED1	DST	SLC16A2	DEAF1	CRLF1	AGO2	HACD1	MMAB	PDHA1	GNAI3	FGF12	RAB11A	AVPR2	SCNN1B	MECP2	SHH	ACTA1	EP300	ADGRG1	SPTBN1	KDM3B	NECAP1	ABCD1	CLTC	YARS1	PIGQ	ALG14	PLXND1	NDUFB11	HNRNPK	KAT8	AFF4	CDK8	FARS2	GNB1	PYCR2	FKRP	UFM1	YIF1B	SUPT16H	HDAC8	ALDH18A1	PURA	MKS1	KCNJ11	KDM4B	TSHB	ASAH1	FIG4	HSPD1	KIF1A	SCO2	STAG2	CLEC7A	GLB1	ACTG1	CC2D2A	PSMD12	MTM1	ZMIZ1	TRAPPC9	ALG12	TPM2	HIKESHI	NKX2-5	ZNF148	GABRA2	KRT6A	SEMA3E	PIGL	TNRC6B	SMPD1	UFD1	FOXP2	ATP1A3	MCCC2	EN1	CDKN1C	PIGT	SYT2	RALGAPA1	KLHL7	LHX4	KCNAB2	CIC	GLI2	WASHC5	HCN1	OCRL	DDC	SOS1	ACTL6A	CNTN1	CPLANE1	SETD5	SETBP1	B9D1	MAP3K7	SHANK3	CYP11B2	GSC	MYL2	SLC25A22	DUOXA2	ELP1	PEX3	COL1A1	NRAS	DLEC1	LONP1	HIVEP2	NEB	PIGG	TRAF3IP2	SNRPB	GRIA4	HS2ST1	PEX1	RSRC1	SRCAP	SNX10	NDUFS3	EFTUD2	PEX11B	NIPBL	NTRK2	VAMP1	BPTF	B3GALT6	SPTBN4	GMPPB	KATNIP	PGAP3	PHGDH	UGDH	CNOT3	RECQL4	PAFAH1B1	PEX6	SATB2	DGUOK	KIF7	RFT1	KLHL40	ACSF3	SLC12A2	TCTN3	ANKRD11	ERCC8	SIN3A	UBE3B	DYNC2LI1	CLCF1	CTCF	PDE6D	KDM5B	HYLS1	GRIK2	DUOX2	HESX1	TRAPPC12	MMUT	CRADD	TAOK1	FBLN5	MED12L	NDUFA11	ARL3	ZNF292	ASXL3	NDUFAF8	MOCS2	TPM3	SLC25A15	ZMYM2	FUZ	MAN1B1	NDUFV2	FOXG1	NDUFA6	TK2	NSD1	ERCC6	TGFBR2	B3GLCT	CASK	IQSEC2	ODC1	SLC7A7	DLK1	UNC45B	TMEM67	OTUD6B	TRIO	COG7	DALRD3	CWC27	ALS2	OPA1	CDC6	FLCN	TSEN54	POLR3K	HK1	KANSL1	CCDC88A	COL6A1	CDH15	NDUFV1	ARSL	ZNHIT3	KRT5	SUCLG1	AHDC1	SZT2	WFS1	HCCS	NHLRC1	SLC25A1	LIAS	GALK1	YY1	FOXH1	BRPF1	NDUFAF1	DLG1	GALT	NTRK1	NDUFS1	TSFM	SLC25A24	TDGF1	CAMK2B	FUT8	DLD	SLC1A4	AIMP2	SLC18A3	MAPK8IP3	MRAS	NECTIN1	ZMYND11	NTNG1	WDR73	CACNA1A	ARID1A	ASH1L	IYD	MKRN3	MYH7	HNMT	WDR26	TASP1	ATP10A	TH	MED12	NPHP1	LAMA2	BTD	AUTS2	PIGV	PRDM16	POGZ	CHD7	ZIC2	CEP120	MSX1	MTOR	PIGN	POU1F1	PLA2G6	RAB3GAP1	HOXB1	TRMT10C	GATA6	NDUFAF3	CCDC32	FAT4	TBL1XR1	HADH	SMC1A	FCSK	UQCC3	SAMHD1	SPTLC1	ASXL1	DHFR	RERE	POLR2A	DNM1L	EHMT1	TRRAP	NDUFS6	TUBB6	USP9X	EEF1A2	MICOS13	KCNA2	SIM1	BUB1B	KIAA0753	ELN	HMGA2	LMNA	SMARCC2	SELENON	PGAP2	FOXP1	FARSA	BLM	PDE10A	TBC1D20	DYNC1H1	PPP3CA	PI4KA	PLP1	FOXP3	COL2A1	PRSS12	GFPT1	CDT1	LAGE3	SPOP	RRM2B	PPP1CB	DNM1	AIFM1	PEX13	PIK3CD	ARX	SMARCA2	ZNF462	ARL13B	POLR1B	CSNK2B	FLNA	SDHAF1	POLG2	BCS1L	GRHL3	AP3B2	NFIX	GATAD2B	GNPTAB	MOGS	NDUFB9	MLXIPL	ABCD4	ARID2	ALG8	SRPX2	ZC3H14	TBC1D24	ABCC6	TSEN2	PRPS1	SURF1	HADHA	PUF60	PROP1	SARS1	IER3IP1	KMT2D	HADHB	NUS1	SCN4A	DLL1	UBE4B	IL17RC	SCN8A	ARCN1	ARVCF	SUZ12	SNAP25	FGFR2	CREBBP	PHOX2B	NHLRC2	IL17F	CASR	IDH1	TANC2	MT-ND2	AP3D1	NONO	MYO9A	SOX4	LAMB2	BCAS3	SHOC2	TSEN34	MBD5	SLC5A6	UBTF	CHRND	ST3GAL5	RAC1	SEPSECS	CUX1	KIRREL3	MBOAT7	MMP23B	TSHR	PLCB4	SCN1A	TMEM237	COL7A1	MGAT2	CRBN	PMPCB	GRM7	SRP54	HS6ST2	RHBDF2	PNPT1	POMT2	ALDH4A1	TRAF7	TIMM22	WWOX	ADNP	TNIK	CHRNE	SCN9A	SPEN	HTT	ANK1	DPYD	STAG1	CCDC47	KRT17	PSAP	AQP2	PEX10	INPP5E	DPF2	DLX4	LMBRD1	SCO1	SSR4	CBY1	CPT2	NDUFS4	GRIN2B	TRAK1	CLCNKB	ACADS	SYNGAP1	BMP4	SLC9A6	KRT16	GBA	JMJD1C	UFC1	NR3C2	PLPBP	PIGO	PTPN11	LUZP1	MRPS16	SETD1A	CA12	DYNC2I2	MAP2K2	COQ7	ATP6V0A2	NDUFS2	TREX1	CARS1	GABRD	SKI	GRIN2D	PPP1R21	PRKG2	ORC4	MTO1	NEMF	AP1G1	JARID2	TRMU	LARGE1	SLC6A3	FKTN	NTNG2	UNC80	DCPS	BRAT1	TBCK	EXOSC3	RIT1	COL6A2	PIEZO2	PIGW	MTHFR	KRT6B	ERCC2	BIN1	LIFR	RNASEH1	UBB	SCNN1A	SLC5A7	ERBB4	RAPSN	FGFR1	PACS1	LRP4	BICD2	STRADA	MARS2	HPCA	TG	SERAC1	CNTNAP2	ATP7A	RNU7-1	SMC3	PTPN23	DPYS	MTR	DBT	ERCC1	FMN2	SLC46A1	ALG3	STIL	KNSTRN	HRAS	CPLX1	CHRNA1	KDM6A	PSPH	WDFY3	COL6A3	MMACHC	FUS	NDUFB10	TELO2	PTCD3	ZSWIM6	IRF6	TUSC3	BCORL1	NRXN1	TRAPPC4	NPAP1	DHCR7	GABRB2	NSUN2	TRIP4	TMCO1	PEX16	DHDDS	ERGIC1	GRIN1	PRKD1	MIPEP	VPS4A	SLC1A2	LIPT2	IL17RA	COL4A6	DHX30	FARSB	AARS1	PTS	KMT2E	NDUFS7	PIGB	BRD4	SYNJ1	DYNC2H1	ACTL6B	OTUD5	SNIP1	KCNK9	EPB41L1	ITCH	GOT2	CDKL5	ANAPC1	MSL3	MBTPS2	TCF7L2	BCL11B	PEX14	GFM1	SCNN1G	RETREG1	CLTCL1	GABRA5	FDFT1	SLC26A4	ST3GAL3	KIF5A	TCF4	PHF6	SNORD115-1	PIGU	CNKSR2	MED23	PARS2	TSPYL1	ANTXR2	PGAP1	IARS1	NFU1	PSAT1	ORC6	CLCN4	COG4	GABBR2	ADA2	RPS6KA3	TCTN2	ORC1	NDUFB3	NOVA2	LYRM4	AP1S2	RAF1	SDHA	PLAG1	KBTBD13	PNPO	STX3	PRKCZ	GMPPA	VPS51	UCP2	DCHS1	WARS2	UGP2	COX16	IDUA	TNPO2	NEXMIF	EDEM3	NAA15	LINGO1	HIRA	CHAT	FRRS1L	HNF1A	ARHGAP29	TSEN15	COG1	PAX8	NBEA	FBN1	PIGS	PDPN	TP53RK	NDUFB8	GGPS1	TMEM126B	COQ2	BCKDHB	LINS1	SOS2	SEC24C	TMEM106B	MT-TE	ALDH7A1	UBE4A	EXT2	EZR	TRPV6	CDC45	ANKRD17	MYH3	APC2	TMEM216	ACTN2	GSX2	SATB1	MED17	KIAA0586	SIK1	MAP2K1	CELF2	USP7	SDHB	KMT2A	VRK1	TALDO1	CLN8	RPL10	MPDU1	PIGY	ASXL2	RNF2	GABRG2	LHX1	EPRS1	HTRA2	RRAS2	LBX1	ENPP1	SLC45A1	CCDC22	B3GALNT2	SVBP	TFG	PCGF2	RPGRIP1L	SLC13A5	HERC2	KCNQ5	SUFU	PEX2	ALKBH8	SLC35A2	WASF1	FGF13	RELN	ALG11	SON	BRSK2	MT-ND1	NDUFAF5	SLC5A5	RREB1	MN1	CBL	MOCS1	NUBPL	COMT	MYO1H	TRMT1	DPM1	MAMLD1	ACTB	EZH2	GPT2	MRPS34	LMNB1	DOCK3	SCN3A	MT-ND3	BCKDHA	KDM1A	TOR1A	DZIP1L	AHI1	PREPL	TOP3A	CTBP1	CACNG2	EDN1	ATG7	FOXE1	DPYSL5	NACC1	YWHAG	C12orf4	GLE1	MID1	WAC	ITGA7	EED	LMOD3	KCNMA1	PPP2R1A	TRPM3	KCNB1	PPM1D	MDH2	NEPRO	TOPORS	MTRFR	SOX11	TSPOAP1	NKX2-1	MAP3K20	SMARCE1	LMAN2L	POMT1	ATXN7	TANGO2	CDK13	ATP6V1B2	PIGP	EPG5	DMPK	MRPL3	SIGMAR1	CISD2	DYNC2I1	CLIP1	PRICKLE2	WASHC4	CAMK2A	IFT172	UBR7	MYH8	PRDX1	CARS2	BICRA	SPRED2	GCDH	ISCA1	NAA20	CPT1A	MEF2C	TECR	FBXO31	HNF1B	KRT14	EXOSC8	PANK2	REV3L	LRPPRC	POMK	NFASC	ADARB1	CYFIP2	FLII	HNRNPH2	HLCS	ATRX	FLAD1	PCCA	MMAA	CFL2	METTL23	COG5	DHCR24	BSND	EDC3	EXOSC9	COX7B	H19	UQCRC2	GP1BB	SNORD116-1	PQBP1	NDE1	NDUFA1	ASL	MED25	PIGC	RNASEH2A	KCNQ2	EIF4A3	MED13	RARS2	C2CD3	ABCC8	CNOT2	HSD17B4	PIBF1	TCTN1	SEC63	CUL3	DCX	CDK19	DPAGT1	ZNF699	IQSEC1	NSMCE3	GAA	SARS2	LHX3	SETD2	MADD	EPM2A	PALS1	MCCC1	TET3	PEX19	TUBB3	CLCN6	MYMK	POLR3A	KIF15	TXNL4A	CACNA1B	TTC5	GNB2	PWAR1	SLC16A1	ASNS	RASA2	CHRNB1	MTRR	THOC2	TTC21B	GPHN	COX6B1	POLE	CAVIN1	PPP2CA	NCAPG2	PET100	HECW2	NAGS	UFSP2	NDST1	SLC52A1	COL4A5	CASZ1	TOM1	ERCC5	LMBRD2	LZTR1	COX8A	CLDN16	SPG11	SH3BP2	SLC25A19	ARMC9	SH2B1	GFM2	SLC6A8	ATP6V1E1	RPS28	TPO	PWRN1	AIMP1	DOCK8	IPO8	AGTPBP1	ZC4H2	CSNK2A1	IFT80	IFIH1	HUWE1	UBA1	COX10	WDR19	EIF5A	TP63	NARS2	CLCNKA	CDH1
HP_CEREBRAL_AMYLOID_ANGIOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_AMYLOID_ANGIOPATHY	APP	APOE	PSEN2	ITM2B	CST3
HP_HYPOGLYCORRHACHIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOGLYCORRHACHIA	TLR3	TICAM1	SLC2A1	UNC93B1	TRAF3	TBK1
HP_MYELOFIBROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYELOFIBROSIS	SH2B3	CALR	MPL	NBEAL2	TET2	JAK2	TP53	TBXAS1	SHOC2	MPIG6B	GFI1B	SRC
HP_ACHOLIC_STOOLS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACHOLIC_STOOLS	BRCA2	BRCA1	RFX6	CYP7B1	HSD3B7	PTPN3
HP_ABNORMALITY_OF_NEUTROPHIL_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_NEUTROPHIL_PHYSIOLOGY	CYBA	DNAJC21	SLC35C1	EFL1	NCF2	RAC2	CYBC1	LYST	CEBPE	GPI	SRP54	PMM2	NCF1	SBDS	CYBB	LCP2
HP_ABNORMAL_NEUTROPHIL_COUNT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NEUTROPHIL_COUNT	CIITA	SAMD9	FASLG	EFL1	ABCD4	RPS7	GFI1	GATA1	STAT3	HAX1	RFXANK	PRKCD	CD79A	TICAM1	TERC	IFNG	SMARCAL1	PNP	BLNK	TCF3	LAMTOR2	RPL18	ELANE	RPS17	ERCC3	PGM3	MPLKIP	RPS28	USB1	STAT5B	TAFAZZIN	SRSF2	FIBP	HSCB	RAB27A	FANCI	CXCR4	RPL35	WAS	CD40LG	EIF2AK3	XIAP	TET2	SLC35A1	CASP10	TRAF3	PIK3CD	GTF2E2	NABP1	RPL5	NRAS	VPS33A	FANCG	RPS27	FANCE	FANCA	FDX2	AP3D1	PACS2	TFRC	MAD2L2	MDM4	FANCC	SLC37A4	LRRC8A	IGHM	FUT8	SBDS	PRKAR1A	TPP2	UNC93B1	SLC46A1	PRF1	RPS20	RMRP	STX11	FCGR3B	SLC35C1	COG4	RPL27	TONSL	IL7R	LYST	MSN	SRP54	RPL35A	MMACHC	RPS10	IL1RN	RPS26	AGA	GTF2H5	STAT1	TARS1	RPS15A	MEFV	RAC2	DNAJC21	IGLL1	ERCC2	RPL26	TLR3	GATA2	GINS1	ZBTB16	LRBA	TCIRG1	CD79B	RUNX1	PIK3R1	RPL15	BCOR	MTRR	ICOS	G6PC3	FBXL4	RFXAP	FOXP3	FAS	VPS13B	RARA	LMBRD1	SAMD9L	RASGRP1	VPS45	IRAK4	ACP5	LBR	RFX5	KRAS	SMARCD2	CD40	TCN2	PML	PRDX1	RECQL4	ASXL1	CLPB	OTULIN	PCCB	FANCD2	CDC40	GSS	RPS19	RNF113A	RPL11	ATRX	JAGN1	HTRA2	CUBN	AP3B1	WIPF1	ITCH	ANAPC1	UBE2A	MECOM	SH2D1A	TFR2	SEC61A1	MMUT	NUMA1	TDP2	RPS24	TERT	CBL	FMO3	PCCA	ETV6	MMAA	CSF3R	ADA2	CXCR2	MMAB	SF3B1	TBL1XR1	IL36RN	STXBP2	STK4	IRF2BP2	RPL31	BTK	ZNFX1	RAG1	UNC13D	PPIL1	NPM1	MYSM1	FIP1L1	WDR1	RPS29	TSR2	TBK1	AMN	MVK	KIT
HP_ABNORMALITY_OF_NEUTROPHIL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_NEUTROPHIL_MORPHOLOGY	RPS14	CXCR4	CUBN	TET2	CEBPE	LBR	SLC19A1	SF3B1	AMN	LYST	MYH9	SMARCD2	FTCD
HP_IMPAIRED_NEUTROPHIL_BACTERICIDAL_ACTIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_NEUTROPHIL_BACTERICIDAL_ACTIVITY	CYBA	GPI	LYST	NCF2	NCF1	CYBC1	CEBPE	CYBB	RAC2
HP_POSTPRANDIAL_HYPERGLYCEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTPRANDIAL_HYPERGLYCEMIA	INSR	GABRA3	SLC2A2	GYS2	KCNJ18	CACNA1S	SHPK	SCN4A	KCNE3
HP_PARANOIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARANOIA	PRDM8	TBX1	VPS13A	FMO3	TIMM8A	ECM1	DGCR6	TBP	PLA2G6	CDH23	HMBS	IMPA1	ESS2	CPOX	SNCA	DGCR8	PPOX	USP8	DGCR2
HP_EEG_WITH_GENERALIZED_POLYSPIKES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_GENERALIZED_POLYSPIKES	CHD2	EFHC1	GRIN2A	CNTNAP2	FRRS1L
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	RELN	DEPDC5	MICAL1	LGI1	GAL	NPRL3	NPRL2
HP_LENS_LUXATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LENS_LUXATION	C12orf57	FBN1	COL2A1	MOCS2	COL11A1	MOCS1	PAX2
HP_RIGHT_AORTIC_ARCH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RIGHT_AORTIC_ARCH	MMP21	TTC26	CHD7	TMEM260	TBX1	GDF1	DGCR6	PLXND1	FLT4	ACVR2B	WT1	ESS2	DNAH1	NKX2-6	CRELD1	DGCR8	SEMA3E	WDR26	STRA6	DGCR2
HP_HYPERGALACTOSEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERGALACTOSEMIA	GALT	GALM	SLC25A13	GALK1	GALE
HP_HEPATOCELLULAR_ADENOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATOCELLULAR_ADENOMA	KCNJ11	KLF11	PHKA2	SLC37A4	GCK	HNF4A	BLK	PAX4	HNF1A	NEUROD1	APPL1	PDX1	ABCC8	CEL	PHKG2	GNAS	INS	PHKB
HP_ABNORMAL_URINE_HORMONE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_HORMONE_LEVEL	TP53	PRKAR1A	PRKACA	CYP17A1	PDE11A	CDKN1B	PDE8B	NR3C1	ARMC5	CYP11B1	CDH23	USP8	GNAS
HP_INCREASED_URINARY_CORTISOL_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_URINARY_CORTISOL_LEVEL	TP53	PRKAR1A	PRKACA	CDH23	PDE11A	CDKN1B	PDE8B	NR3C1	ARMC5	USP8	GNAS
HP_LIPOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIPOMA	ZSWIM6	SEC23B	CDC73	SDHD	MSTO1	PIK3CA	RPL10	VANGL1	TBXT	APC	FGFR1	TAF1	SDHC	FUZ	PTEN	SDHB	VANGL2	CCL2	AKT1	KLLN	ALX3	USF3
HP_CORNEAL_STROMAL_EDEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORNEAL_STROMAL_EDEMA	TGFBI	COL8A2	VSX1	SLC4A11	ZEB1	GRHL2	OVOL2
HP_DECREASED_FERTILITY_IN_MALES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_FERTILITY_IN_MALES	HYDIN	TGFB1	FANCM	TSPY1	ZMYND10	ARMC2	AR	SRY	DRC1	CCDC40	FCGR2A	M1AP	VAMP7	RAD51	PMFBP1	CATIP	DNAH5	ZFPM2	BRAF	NR0B1	TEX11	CCDC39	STK36	TERB1	DNAAF5	GATA4	RNF212	SOX9	DNAAF11	FANCC	DZIP1	BRIP1	DNAAF2	SPAG1	ODAD1	MAP3K1	DNAL1	TTC12	CCNO	CFTR	STRC	NR5A1	RBMY1A1	FANCF	CFAP298	FOXJ1	ERCC4	SLX4	FANCD2	DNAAF4	AURKC	AMHR2	CDH23	DNAI2	ODAD4	PPP2R3C	LRRC56	GAS8	RPGR	RSPH4A	MNS1	DNAH10	HSD3B2	GCM2	RSPH1	DNAAF3	DNAH9	CCDC65	DNAI1	OFD1	BLM	WT1	WWOX	DAZ1	CFAP70	CFAP47	IFT74	GALT	CATSPER2	CEP112	DAZ4	FANCL	RAD51C	DAZ2	FANCE	FANCA	SPEF2	AMH	DNAH1	C14orf39	DNAH8	CYP17A1	DMRT3	ACTL9	RSPH3	MCIDAS	PALB2	CLDN2	UBE2T	PTPN11	XRCC2	MAD2L2	GAS2L2	MAP2K1	PNLDC1	CCDC103	CFAP300	DAZ3	FANCG	RSPH9	STAG3	AIP	KLHL10	ALMS1	CFAP65	ODAD2	DDX3Y	SPAG17	CFAP52	CTNS	DNAAF1	NEK10	ADGRG2	LHCGR	ODAD3	CYB5A	TTC29	MEN1	DHX37	TERB2	SYCP2	RFWD3	SUN5	SPATA16	PRKAR1A	USP9Y	CYP19A1	DNAH2	BRCA2	DNAJB13	DNAH11	CATSPER1	NME8	FANCB	BRCA1	FANCI	CFAP58	CFAP221	DNAAF6	DNAH17
HP_PENDULAR_NYSTAGMUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PENDULAR_NYSTAGMUS	SCN1A	CNGB3	CACNA1A	OPN1MW	DNMBP	TBL1XR1	ATOH7	HMGB3	CARS1	CLTCL1	GNAT2	LRP5	FRMD7	NT5C2	MT-ATP6	ADAR	SDHD	OPN1LW	CRB1	TMEM63A	PRRT2	RPGR	RPGRIP1	CRX	PLP1	PDE6H	CNGA3	PDE6C	ATP1A2	ATF6	AIPL1	PLA2G6	OPN1SW	NUP62	TMEM231	TENM3	P4HTM
HP_SEESAW_NYSTAGMUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEESAW_NYSTAGMUS	CLTCL1	CACNA1A	PRRT2	ATP1A2	TMEM231	SCN1A
HP_RETINAL_FLECKS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_FLECKS	BEST1	RDH5	PROM1	ZFYVE26	PRPH2	RHO	RLBP1
HP_HEMERALOPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMERALOPIA	CNGA3	CEP78	GRM6	NR2E3	IFT172	GUCY2D	SAG	ATXN7	NYX
HP_OROMANDIBULAR_DYSTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OROMANDIBULAR_DYSTONIA	ANO3	C19orf12	VPS13A	VPS16	SLC39A14	TIMM8A	SPG11	KMT2B	ALS2	SPTLC1	THAP1	SIGMAR1	ATN1	COL6A3	COASY	PANK2	FUS
HP_LARYNGEAL_DYSTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARYNGEAL_DYSTONIA	KCTD17	GNAL	VPS13A	STX16	VPS11	KMT2B	FTL	THAP1	COL6A3	GNAS	TUBB4A	PRKRA
HP_ANASARCA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANASARCA	PMM2	PLVAP	DPAGT1	UBR1	DEF6	FARSB
HP_REACTIVE_HYPOGLYCEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REACTIVE_HYPOGLYCEMIA	PCSK1	YY1	UCP2	MEN1	ALDOB	GLUD1	HNF1A
HP_LOW_SERUM_CALCITRIOL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_SERUM_CALCITRIOL	CYP2R1	DMP1	CYP27B1	CYP3A4	ENPP1	LRP5
HP_CUTANEOUS_MELANOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTANEOUS_MELANOMA	WRN	MITF	CXCR4	NRAS	CDKN2A	MC1R	COL7A1	CDK4	ERCC3	BAP1	BRAF	XPC	POLH	OCA2	MMP1	HRAS	STK11
HP_BONE_CYST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BONE_CYST	CAVIN1	SEC23B	SDHD	KRAS	PIK3CA	SH3BP2	BSCL2	PDGFRB	FOS	FGFR1	NF1	TREM2	SDHC	GNAS	AGPAT2	PTEN	TYROBP	SDHB	B2M	NOTCH3	VDR	PPARG	AKT1	KLLN	BTNL2	HLA-DRB1	ZBTB20	USF3	CAV1
HP_ABNORMAL_CIRCULATING_ACETYLCARNITINE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_ACETYLCARNITINE_CONCENTRATION	ACAD8	ACAD9	TANGO2	HADHB	CPT2	COX16	SLC25A20	SLC52A1	LMBRD1	MMACHC	HADH	HADHA	ACADS
HP_PERSONALITY_DISORDER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERSONALITY_DISORDER	SPG21	MAPK10	SCN1A	WAC	DRD2	CHD2	TOR1A	CBS	CUX2	KCTD17	SGCE	GABRB3	CACNA1A	DNM1	RORA	KCNT1	CYP27A1	XK
HP_ENLARGED_CEREBELLUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_CEREBELLUM	ZEB2	KDM1A	BICRA	PTEN	FGFR3	HRAS
HP_ABNORMALITY_OF_SKELETAL_MUSCLE_FIBER_SIZE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SKELETAL_MUSCLE_FIBER_SIZE	ACTN2	TPM2	POLG	NEB	CCDC174	MYL2	COL6A1	TWNK	ACTA1	SGCB	KLHL41	TRIM32	POMT2	COL6A2	SUCLG1	MYPN	NOTCH2NLC	LRP12	TTN	COL12A1	KBTBD13	SYT2	MSTO1	VCP	NDUFA4	HNRNPA2B1	MYH7	SELENON	DYSF	POPDC3	TRIP4	STAC3	TCAP	LAMA2	HPDL	MYH14	LMNA	POMT1	STIM1	RYR1	HNRNPA1	DPM3	GARS1	MTM1	TPM3	PPARG	ASCC1	LMOD3	FHL1	CFL2	SGCG	DNAJB6	AIFM1	GIPC1	COL6A3	ORAI1	CAV3	KY	CRYAB	CLCN6	MYOT	ANO5	JAG2	SQSTM1	ITGA7	OPA1	CASQ1	GNE	MICU1	NEFH	UNC45B
HP_ABNORMAL_URINARY_COLOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINARY_COLOR	AKR1D1	TTC26	PYGM	TSC2	UROS	CPOX	UROD	GATA1	TSC1	SPP1	ABCC2	DMD	BLVRA	HMBS	ATP11C	ALAD	LPIN1	IRAK1	CPT2	MT-CO3	MT-CO1	STAT4	CLTRN	SLC6A19
HP_ABNORMAL_MITOCHONDRIAL_SHAPE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MITOCHONDRIAL_SHAPE	MYH14	SUCLG1	MFF	SLC25A3	FDXR	GGPS1
HP_ABNORMAL_PANCREAS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PANCREAS_MORPHOLOGY	RERE	GANAB	B9D2	EFL1	DYNC2I1	OFD1	KLF11	HSPG2	PDX1	ASXL1	SPEN	GATA6	SPINK1	STAT3	PRSS1	ABCC8	CDKN1C	TMEM216	INS	ABCC6	CP	KCNQ1OT1	CFTR	FOXF1	RECQL4	IGF2	TCTN2	HNF4A	PAX4	DZIP1L	SIK3	PKD2	PRKCZ	GCK	B9D1	CSPP1	FANCD2	SRP54	TMEM237	ALG9	GLIS3	UBE4B	MYCN	TCTN3	SLC29A3	HNF1B	LHX1	CASZ1	WDR19	VHL	TXNDC15	PTRH2	TCTN1	ENPP1	CCND1	CNOT1	BICC1	RFX6	FLI1	DIS3L2	CEP290	KCNAB2	NEUROD1	RARB	XPNPEP3	CTRC	PTF1A	PKHD1	LUZP1	KCNJ11	STRA6	TMEM107	PRSS2	DNAJB11	TMEM67	KCNQ1	MMP23B	RPGRIP1L	MKS1	SETBP1	PDPN	CC2D2A	TELO2	PRDM16	BLK	GABRD	SKI	APPL1	RPGRIP1	SBDS	HNF1A	NEK1	DNAJC21	CASR	NPHP3	RBM8A	CPA1	CEL	TMEM231	PKD1	FLNB
HP_ABNORMALITY_OF_PANCREAS_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_PANCREAS_PHYSIOLOGY	IL12A-AS1	EFL1	OFD1	MT-ND6	IL12A	KLF11	YY1	GNA11	PDX1	FCGR2A	CDKN2B	KCNJ11	STUB1	STAT3	ABCC8	GPC3	FAH	GCGR	G6PC1	INS	CTLA4	APOC2	SMARCAL1	SLC25A13	BCKDHA	HNF4A	PAX4	TCF4	UBR1	CDKN1A	MT-TW	HLA-B	PUF60	GPC4	GCK	UCP2	ERAP1	MT-TH	HJV	SLC26A9	MEN1	EIF2AK3	BRCA1	MT-CO1	LPL	MT-ND1	DCTN4	PTRH2	STAT4	UBAC2	RNU7-1	NADK2	PALB2	VHL	SLC37A4	CAV1	MEFV	DBT	SBDS	CFTR	NEUROD1	BSCL2	SMAD4	AGPAT2	XPNPEP3	MT-TF	MIF	PRSS1	EDNRA	PRSS2	TKFC	HLA-DPA1	TGFB1	ALMS1	TP53	SRP54	MT-CO3	SLC7A7	SLC9A3	PALLD	SPINK1	CCR1	HNF1B	MT-CO2	BLK	BCKDHB	CTRC	APPL1	LMNA	JAG1	FLI1	ATP8B1	HNF1A	MT-TL1	DNAJC21	GCLC	CASR	GATA6	DIS3L2	HMGCL	CPA1	APOE	PTPN22	CDC73	CEACAM6	INSR	LMF1	IFT172	CLCA4	GNAS	IKZF1	TLR4	AP2S1	RABL3	HFE	IL10	SEMA4D	HMOX1	MT-TS2	PNPLA2	MAFA	PCCB	CDKN2A	STX1A	CDKN1B	MT-ND5	NFS1	LBR	SLC6A14	ATP6AP1	ABCB4	CEACAM3	CYBC1	PPARG	MMUT	MADD	IFNGR1	PCCA	GPR35	C4A	PRTN3	BRCA2	MST1	CBS	HAMP	ARX	CTNS	HLA-DPB1	KLRC4	NSMCE2	ACTG2	KCNN4	SLC11A1	YARS1	IL23R	KRAS	CDKN2C	GSTM3	NDUFS3	MT-ND4	COX4I2	FAS	SERPINA1	SLC16A1	MT-TQ	CEL	CIDEC
HP_ABNORMALITY_OF_EXOCRINE_PANCREAS_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_EXOCRINE_PANCREAS_PHYSIOLOGY	TGFB1	PALB2	EFL1	CEACAM3	OFD1	KLF11	MADD	PDX1	FCGR2A	SBDS	CEACAM6	CFTR	NEUROD1	CLCA4	PRSS1	ABCC8	SMAD4	INS	BRCA2	MIF	KCNJ11	STAT3	RABL3	EDNRA	HFE	DNAJC21	HMOX1	HNF4A	PAX4	ARX	UBR1	TP53	SRP54	CTNS	SLC9A3	PUF60	PALLD	HNF1B	KCNN4	GCK	BLK	CDKN2A	STX1A	SLC11A1	APPL1	JAG1	YARS1	SLC26A9	EIF2AK3	HNF1A	BRCA1	GCLC	KRAS	GATA6	GSTM3	PRSS2	CTRC	DCTN4	COX4I2	SPINK1	SERPINA1	PTRH2	CEL	SLC6A14	ATP6AP1
HP_ABNORMALITY_OF_ENDOCRINE_PANCREAS_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_ENDOCRINE_PANCREAS_PHYSIOLOGY	GPC4	ABCC8	GPC3	MAFA	KCNJ11	VHL	MEN1	YY1	GCK	UCP2	HNF1B	PAX4	CDKN2B	PDX1	INSR	CDKN1B	STAT3	HJV	FAH	GCGR	INS	CDKN2C	HNF4A	DIS3L2	HAMP	LBR	SLC16A1	EIF2AK3	CDKN1A
HP_ABNORMAL_PANCREAS_SIZE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PANCREAS_SIZE	ABCC8	EFL1	RFX6	KLF11	GCK	PDX1	HNF1B	BLK	SRP54	NEUROD1	GATA6	APPL1	STAT3	PTF1A	GLIS3	CDKN1C	SBDS	HNF1A	INS	RARB	DNAJC21	SLC29A3	LHX1	KCNJ11	STRA6	KCNQ1OT1	IGF2	HNF4A	PAX4	PTRH2	KCNQ1	CEL	CNOT1
HP_MULTIPLE_JOINT_DISLOCATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_JOINT_DISLOCATION	RNU4ATAC	GNB2	KIF22	EXOC6B	B3GALT6	B3GAT3	CHST3
HP_EDEMA_OF_THE_DORSUM_OF_FEET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EDEMA_OF_THE_DORSUM_OF_FEET	PLAA	RBM8A	ZNHIT3	TGM1	RNF13
HP_ABNORMAL_CIRCULATING_CREATININE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_CREATININE_CONCENTRATION	TTC26	GANAB	PKD2	BICC1	TMEM260	FAN1	INVS	FLT1	HBB	CFB	CCND1	HPRT1	ALG9	SLC41A1	ELP1	HNF1B	CFHR1	CTNS	CD46	AVPR2	GALNT2	NT5E	C3	WDR19	MUC1	STOX1	TREX1	DBH	COQ7	CFI	CFH	DNAJB11	THBD	PKD1	CFHR3	CORIN	ADAMTS13	CC2D2A
HP_ABNORMAL_MITOCHONDRIAL_NUMBER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MITOCHONDRIAL_NUMBER	PET117	MGME1	DNA2	GYG1	CHCHD10
HP_ABNORMALITY_OF_THE_MITOCHONDRION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MITOCHONDRION	NDUFB3	NDUFA1	MRM2	MT-ND6	SLC25A4	HSD17B10	TIMMDC1	NDUFB9	NDUFAF5	SLC25A3	NDUFA13	PDHA1	ETFDH	MT-CYB	RRM2B	PREPL	NDUFV1	PET117	BOLA3	AK2	CHCHD10	FOXRED1	MT-ND3	POLG	CAMKMT	SUCLG1	DLAT	LIG3	GNE	QRSL1	MT-TW	NDUFA10	SUCLA2	COX5A	ACAD8	TAFAZZIN	NDUFA4	NDUFS2	MT-TL2	MT-TN	MYH7	TTN	TWNK	MT-TH	MT-ATP6	GYG1	SDHA	COX16	NDUFS6	SLC25A20	NDUFB10	SURF1	CYP27A1	MT-CO1	NDUFAF1	ATP5F1E	MT-ND4L	NDUFAF2	NDUFAF8	MT-ND1	NADK2	MYH14	CPT2	MT-ND4	TK2	NDUFAF3	HMGCL	NDUFS1	TACO1	MT-ND2	TSFM	GLRX5	SQSTM1	SLC25A26	TXN2	PDP1	COX6A2	DLD	NDUFS8	DNMT1	EHHADH	SDHD	ACADVL	MT-TF	NDUFS4	SLC3A1	AFG3L2	PET100	IBA57	FDXR	KARS1	ACADM	MT-CO3	MT-ND5	HADHA	COL7A1	FXN	PPM1B	TIMM50	MT-CO2	GGPS1	POLG2	TMEM126B	DNM1L	PTCD3	MRPL12	TRMT5	TRMU	GTPBP3	GFER	MT-TL1	PNPT1	TYMP	ACAD9	MT-TE	SPG7	HADH	VCP	GATM	MRPS23	TIMM22	CYBA	SLC22A5	PDHX	NEB	NDUFAF6	NDUFV2	NDUFS3	COA3	FBXL4	NDUFAF4	TARDBP	NDUFB11	SLC34A1	MRPS25	NDUFA9	MT-TS2	SCO1	CYBB	MRPS14	CARS2	NDUFS7	SLC25A10	GATC	DGUOK	LIPT1	PEX5	HIBCH	MMP1	MTFMT	FUS	ETFB	NFS1	NDUFA12	LRPPRC	TMEM70	TBK1	MFF	GFM1	DNA2	PDHB	SLC39A8	COA6	NDUFA11	C9orf72	COX20	SDHB	CTNS	NDUFA8	NFU1	NDUFA6	NDUFA2	ECHS1	EARS2	ISCU	COA8	ETFA	MGME1	NDUFC2	DNAJC30	COX4I1	SLC19A3	COX15	MT-TQ	NUBPL	MIEF2
HP_PARIETAL_CORTICAL_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARIETAL_CORTICAL_ATROPHY	SACS	SNRPN	MAGEL2	NDN	OCA2	SCYL2	STUB1
HP_OCCIPITAL_CORTICAL_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCCIPITAL_CORTICAL_ATROPHY	SNRPN	MAGEL2	NDN	OCA2	DOCK7
HP_INCREASED_FIBULAR_DIAMETER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_FIBULAR_DIAMETER	INPPL1	GPC6	SHH	LMBR1	SLC35D1
HP_OPEN_ANGLE_GLAUCOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPEN_ANGLE_GLAUCOMA	WDR36	POLG2	LMX1B	CYP1B1	FGF10	OPTN	MYOC	FGFR3	NTF4	ASB10	FGFR2
HP_ANGLE_CLOSURE_GLAUCOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANGLE_CLOSURE_GLAUCOMA	FZD4	NDP	ATOH7	COL18A1	LRP5
HP_HYPOPLASIA_OF_THE_PONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_PONS	ARHGEF2	EPG5	RERE	EXOSC1	FKRP	DISP1	GLI2	ZIC1	DCC	TSEN54	ADGRG1	DLL1	RTTN	STUB1	POMGNT1	ATXN8OS	TRAPPC12	DOCK7	SLC5A6	TUBB2B	GPHN	ALG3	PPP2R1A	CDON	PTEN	APC2	CLCN3	PIGS	NODAL	STIL	SMARCA2	TDGF1	GMPPB	VRK1	ROBO3	PMM2	SIX3	WNT1	SHH	GAS1	SLC25A46	MAB21L1	FOXH1	VPS51	PTCH1	LARGE1	BRF1	POMT2	PPIL1	CASK	POGZ	ZIC2	AHCY	TOE1	ATXN2	POMT1	POMK	MDH1	FGF8	RELN	B3GALNT2	TGIF1	UBE2A	PCLO	MINPP1	SNX14	ASNS
HP_ABNORMALITY_OF_CIRCULATING_GLUCOCORTICOID_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CIRCULATING_GLUCOCORTICOID_LEVEL	TP53	HSD11B2	PRKAR1A	GNAS	CYP11A1	CYP17A1	PDE11A	MEN1	HTR1A	CDKN2B	CYP11B2	CDH23	GATB	GLI3	TXNRD2	NR0B1	NNT	TBX19	PDE8B	CYP11B1	ARMC5	PCSK1	SMARCB1	PRKACA	STAR	MC2R	CDKN1A	QRSL1	BAP1	KCNJ11	SUFU	ABCD1	POR	AAAS	CYB5A	SMARCE1	GATC	NF2	HSD3B2	CDKN1B	AIRE	NFKB2	USP8	TRAF7	TERT	CDKN2C	PDGFB	SMO	NR3C1	MRAP	RET	AKT1	PIK3CA
HP_HEPATITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATITIS	APC	AKR1D1	CIITA	TNPO3	FASLG	ALMS1	AIRE	CYP7B1	PIK3R1	VPS33B	CASP8	RFXANK	GNAS	PRKCD	RFXAP	FOXP3	SKIV2L	CD79A	XIAP	IL17RA	RASGRP1	CLEC7A	SEMA4D	RFX5	BLNK	TCF3	IGF2R	TCF4	COG8	MMEL1	IGKC	AXIN1	MET	CTNNB1	TPP2	SLC25A15	IRF5	SPIB	CD3D	GLIS3	CD40LG	PIK3CA	IL17RC	IL12A	CASP10	IGHG2	CD247	ITCH	IL17F	SHPK	TBX19	PIEZO1	SH2D1A	SYK	HSD3B7	FAS	LRRC8A	IL12RB1	CD3E	IGHM	TTC7A	ATP7B	GUSB	GPR35	VIPAS39	PGM1	CYP7A1	IL21R	BTK	MST1	ATP7A	AMACR	TNFSF15	SERPINA1	C4B	STAT1	PDGFRL	C1S	TP53	IGLL1	TRAF3IP2	COG6	ACP5	HBB	CD79B	IL18BP	POU2AF1
HP_METHEMOGLOBINEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METHEMOGLOBINEMIA	HBG2	HBB	CYB5A	HBA1	CYB5R3
HP_METHYLMALONIC_ACIDURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METHYLMALONIC_ACIDURIA	MCEE	SUCLA2	LMBRD1	ACSF3	PRDX1	SUCLG1	MMAB	ABCD4	MMADHC	MMACHC	MLYCD	MMUT	MMAA	CD320	TCN2	HCFC1
HP_ANTERIOR_UVEITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTERIOR_UVEITIS	IL6	MIF	LACC1	AIRE	HLA-DRB1	TNFAIP3	PTPN22	HLA-B	CD247	ANKRD55	IL2RA	STUB1	STAT4	NOD2	IL2RB	PTPN2
HP_POSTERIOR_UVEITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_UVEITIS	FOXP1	NOD2	BIRC3	MALT1	BCL10
HP_STOMACH_CANCER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STOMACH_CANCER	CASP10	TRIP13	STK11	IL1RN	APC	MUTYH	MSH3	RPS20	CHEK2	ERBB2	BUB1B	PIK3CA	CDH1	BLM	MDM2	BUB3	BMPR1A	AAGAB	SEMA4A	CEP57	BUB1	IL1B	IRF1	KRAS	KLF6	CDKN2A	TP53	COL14A1	FGFR2
HP_ABNORMAL_NUMBER_OF_ERYTHROID_PRECURSORS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NUMBER_OF_ERYTHROID_PRECURSORS	TET2	RPL15	RPS24	UROD	RPL35	GATA1	G6PC3	RPS15A	RPS20	ADA2	RPS17	RPS14	RPS19	RPL27	PNP	SF3B1	RPL35A	TP53	RPS10	RPL18	RPS7	EPO	RPS26	RPL31	GLRX5	UROS	KLF1	RPS28	LPIN2	RPS29	HBB	CDIN1	TSR2	RPL11	CDAN1	RPL5	RPL26	ERBB3	CBLIF	RPS27	PIGA	PUS1
HP_ERYTHROID_HYPERPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERYTHROID_HYPERPLASIA	CDIN1	CDAN1	TET2	GLRX5	UROS	KLF1	UROD	GATA1	SF3B1	LPIN2	ERBB3	CBLIF	HBB	PIGA	PUS1
HP_ERYTHROID_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERYTHROID_HYPOPLASIA	RPL31	RPL15	RPS28	RPS24	RPL35	GATA1	RPS15A	RPS29	G6PC3	RPS20	TET2	TSR2	ADA2	RPL11	RPS17	RPS14	RPL5	RPS19	RPL18	RPL27	RPL26	RPL35A	RPS27	RPS10	RPS7	RPS26
HP_ABNORMAL_GRANULOCYTOPOIETIC_CELL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GRANULOCYTOPOIETIC_CELL_MORPHOLOGY	CXCR4	SRSF2	RARA	TET2	ASXL1	RPL18	CXCR2	SF3B1	NUMA1	GATA1	KIT
HP_ABNORMAL_NUMBER_OF_GRANULOCYTE_PRECURSORS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NUMBER_OF_GRANULOCYTE_PRECURSORS	SF3B1	SRSF2	TET2	ASXL1	RPL18	KIT
HP_ABNORMAL_MEGAKARYOCYTE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MEGAKARYOCYTE_MORPHOLOGY	SAMD9	RFWD3	CALR	JAK2	TET2	ZNFX1	GP1BB	MPL	ANKRD26	MYSM1	GATA1	SH2B3	RPS14	SLC35A1	GP9	SF3B1	TP53	UBA1	GNA14	GP1BA	HOXA11
HP_ABNORMAL_MONOCYTE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MONOCYTE_MORPHOLOGY	PIK3CD	RAC2	ZNFX1	GFI1	NRAS	GATA2	DDX41	ELANE	KRAS	SRP54	G6PC3	WAS	TCIRG1
HP_ABNORMALITY_OF_VON_WILLEBRAND_FACTOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_VON_WILLEBRAND_FACTOR	IKZF5	VWF	GP9	NBEAL2	GP1BB	SLC37A4	ITGA2B	GP1BA	ITGB3	F8
HP_SINGLE_LINEAGE_MYELODYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SINGLE_LINEAGE_MYELODYSPLASIA	SF3B1	ERBB3	TET2	HSCB	HSPA9
HP_HEMOTHORAX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMOTHORAX	ENG	COL3A1	EXT2	SERPINF2	EXT1	EIF2AK4
HP_HYPOTRIGLYCERIDEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOTRIGLYCERIDEMIA	APOC3	PCYT1A	MTTP	CCT5	GALNT2	SAR1B	ANGPTL3	NGLY1	CETP
HP_DECREASED_CORNEAL_SENSATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CORNEAL_SENSATION	TGFBI	FGF10	FGFR3	CHST6	FGFR2
HP_HEMOPHAGOCYTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMOPHAGOCYTOSIS	STX11	STXBP2	CD27	XIAP	HAVCR2	SLC7A7	LYST	ZNFX1	UNC13D	RAB27A	PRF1	SH2D1A
HP_SUBCORTICAL_CEREBRAL_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBCORTICAL_CEREBRAL_ATROPHY	ESPN	KRAS	GCDH	CIB2	MYO7A	FGFR1	POGZ	EHMT1	PCDH15	ALG3	MAN2B1	USH2A	HNF1B	LHX1	ACTB	TCTN3	PANK2	WHRN	SHPK	ACTG1	MBTPS2	MYO5A	USH1C	ADGRV1	PDZD7	COG7	USH1G	CDH23
HP_CAROTID_ARTERY_DILATATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAROTID_ARTERY_DILATATION	SMAD2	MYLK	TGFBR1	TGFBR2	LOX	ACTA2	TMEM67	SMAD3	STAT1	MYH11	MAT2A	TGFB3	FBN1	TGFB2	FOXE3	SMAD4	ELN	PRKG1	IPO8	DCDC2	MFAP5	HEY2
HP_ASTERIXIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASTERIXIS	NR1H4	ABCB11	SLC25A13	ABCB4	ATP8B1
HP_OLIGODACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OLIGODACTYLY	SEM1	HOXD13	DONSON	BRD4	HDAC8	SF3B4	RAD21	RIPK4	DLX5	GLI3	BTRC	NIPBL	DLL4	TP63	SMOC1	PORCN	CYP26B1	EPS15L1	CHD7	APC	RECQL4	ESCO2	WNT7A	WNT10B	MBTPS2	DLX6	SMC1A	LRP4	SMC3	SEMA3E	BHLHA9
HP_SKIN_PICKING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_PICKING	SLC6A4	SNRPN	USP7	MAGEL2	SIM1	NDN	OCA2	KMT2E	CNTNAP2	HTR2A
HP_HEAD_BANGING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEAD_BANGING	TAOK1	KAT5	VPS13A	DPAGT1	RAI1	SVBP	SNRPN	MAPK1	PIGF
HP_STEREOTYPICAL_HAND_WRINGING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STEREOTYPICAL_HAND_WRINGING	CDKL5	IQSEC2	NEXMIF	GABBR2	LARP7	LMNB1	DYRK1A	CELF2	MGAT2	SMC1A	SATB1	NACC1	VAMP2	KCNB1	CNTNAP2	GRIN2A	MECP2	GRIA2	NTNG1
HP_STEREOTYPICAL_BODY_ROCKING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STEREOTYPICAL_BODY_ROCKING	GNB2	NEXMIF	DPAGT1	AFF2	KIF15	WDR26
HP_GLIOBLASTOMA_MULTIFORME	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLIOBLASTOMA_MULTIFORME	KRAS	PMS1	EPCAM	MSH6	PMS2	TP53	RPS20	CHEK2	MLH1	MLH3	MDM2	APC	IDH1	TGFBR2	PIK3CA	ERBB2	BRCA2	BMPR1A	MSH2	SEMA4A	FAN1	CDKN2A
HP_ABNORMAL_NATURAL_KILLER_CELL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NATURAL_KILLER_CELL_MORPHOLOGY	CD70	PGM3	FCGR3A	PIK3CD	AP3B1	DNMT3B	LYST	IL2RG	TOM1	GATA2	KNSTRN	MCM4	RIPK1	JAK3	MCM10	RAG2	NLRC4	SP110	SYK	RAG1
HP_ABNORMAL_NATURAL_KILLER_CELL_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NATURAL_KILLER_CELL_PHYSIOLOGY	STX11	STXBP2	PIK3CD	FCGR3A	AP3B1	WIPF1	UNC13D	PRF1	PRKCD	IL2RG	LCP2	NLRC4	XIAP	SH2D1A	IKBKG
HP_ENTRAPMENT_NEUROPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENTRAPMENT_NEUROPATHY	IDS	B2M	TTR	ARSB	SH3TC2	CA2	GNPTAB	COMP	IDUA	GNAS	GSN
HP_HODGKIN_LYMPHOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HODGKIN_LYMPHOMA	CD70	FASLG	CD27	TCF4	FAS	ITK	DKC1	RNF43	CHEK2	PRKCD	CASP10	POLE	MDM2	STAT3	RASGRP1	AAGAB	KLHDC8B	DEF6	MAGT1	ATM	PGM3	CDKN2A	TP53	SOCS1	COL14A1
HP_T_CELL_LYMPHOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_T_CELL_LYMPHOMA	POLE	TNFRSF1B	CTLA4	FASLG	FAS	RASGRP1	NBN	CD28	MLH1	MSH6	PRKCD	CASP10
HP_B_CELL_LYMPHOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_B_CELL_LYMPHOMA	FASLG	ATM	FCHO1	FAS	RASGRP1	MAGT1	BCL10	ITK	FOXP1	NBN	ADA	IKZF3	PRKCD	BIRC3	CCND1	SYK	PIK3R1	CASP10	MALT1
HP_INSULINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INSULINOMA	CDKN2B	CDKN1B	CDKN2C	CDKN1A	MEN1
HP_ABNORMALITY_OF_PROTHROMBIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_PROTHROMBIN	AKR1D1	MTTP	RINT1	ALG12	SLC25A13	AGA	HLA-DQA1	F10	SLC30A10	CFH	HELLPAR	COG8	F7	NBAS	AHCY	SLC37A4	SOS2	GPR35	F5	PGM1	F2	CFI	NR1H4	MCFD2	VKORC1	ACAD9	EFL1	MST1	MICOS13	NGLY1	SEMA4D	PRF1	HMGCL	PET100	TCF4	LMAN1	HADH	GFI1B	GNE	PMM2	GGCX	CD46	HLA-DQB1
HP_ONYCHOMYCOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ONYCHOMYCOSIS	TNPO3	TRAF3IP2	CYBC1	PLCG2	CARD9	KRT1	IL12RB1	DOCK8	IRF5	SPIB	SDR9C7	TNFSF15	HPGD	MMEL1	CLEC7A	NFKB2	CARMIL2	POU2AF1	IL12A	IL17RC
HP_ABNORMAL_SPERM_MOTILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SPERM_MOTILITY	HYDIN	GANAB	ZMYND10	ARMC2	DRC1	CCDC40	PMFBP1	CATIP	DNAH5	CCDC39	STK36	DNAAF5	DNAAF11	DZIP1	DNAAF2	SPAG1	ODAD1	DNAL1	TTC12	CCNO	STRC	CFAP298	FOXJ1	PKD2	DNAAF4	ODAD4	LRRC56	CFAP69	GAS8	RPGR	RSPH4A	DNAH10	ALG9	RSPH1	DNAAF3	DNAH9	CCDC65	OFD1	CFAP70	CFAP47	IFT74	CATSPER2	CEP112	GBA2	DNAI2	SPEF2	BRDT	DNAH1	BICC1	DNAH8	DNAI1	RSPH3	MCIDAS	RSPH9	GAS2L2	CCDC103	CFAP300	SUN5	KLHL10	CFAP65	ODAD2	DNAJB11	SPAG17	CFAP45	CFAP410	DNAAF1	NEK10	ODAD3	TTC29	PRKAR1A	DNAH2	DNAJB13	HNF1B	DNAH11	CATSPER1	NME8	CFAP58	CFAP221	PKD1	DNAAF6	DNAH17	CFAP91
HP_REDUCED_SPERM_MOTILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_SPERM_MOTILITY	RSPH4A	GANAB	PKD2	BICC1	DNAH8	ARMC2	CATSPER2	TTC29	CFAP69	DNAH10	PMFBP1	SUN5	CATIP	STRC	ALG9	CCDC39	DNAH2	DNAAF11	ZMYND10	HNF1B	CFAP298	CFAP47	CATSPER1	CEP112	STK36	GBA2	KLHL10	SPEF2	CFAP58	DNAJB11	SPAG17	PKD1	BRDT	DNAH17	CFAP91	CFAP410
HP_IMMOTILE_SPERM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMMOTILE_SPERM	CCDC40	DZIP1	CATSPER2	CFAP70	IFT74	CATSPER1	STRC	RSPH9	CFAP65	CCDC39	GAS2L2	DNAJB13	DNAAF5
HP_JUVENILE_MYELOMONOCYTIC_LEUKEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JUVENILE_MYELOMONOCYTIC_LEUKEMIA	MAP2K1	BRAF	NRAS	PTPN11	KRAS	NF1	CBL	ARHGAP26
HP_ABNORMAL_RENAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_MORPHOLOGY	RERE	NPHS1	IL12A-AS1	ELN	FKTN	OFD1	IL12A	KAT6A	UMOD	GNA11	LZTFL1	CDKN1C	RTTN	CDKN2B	TBCK	GPC3	PLCD1	PRKCSH	INF2	FREM1	FAH	CDC42	MNX1	HRAS	BBS4	MYH11	GATA3	FANCC	CEP120	PEX3	HSPG2	PDE8B	HOGA1	PIEZO2	TRPC6	TSC2	SOS1	EIF4H	IFT140	HDAC4	FAM149B1	PIGW	GREB1L	APOB	FANCF	CTU2	ERCC4	TTC26	LDLRAP1	FANCD2	PAH	RBM10	ERAP1	KRAS	NPHP1	DYNC2H1	B9D1	PRMT7	PAX2	PTPRO	NODAL	BBS5	ZIC3	TBC1D8B	RAD51C	SALL4	CC2D2A	DLST	FGF10	SI	C1QA	EVC2	MT-CO1	STIL	TSC1	CEP290	NADSYN1	CEP19	ESCO2	MT-ND1	STRADA	TOGARAM1	SHPK	ATP6V0A4	TREX1	ARNT2	CILK1	STAT4	FRAS1	SC5D	LRP4	DDX59	RNU7-1	SMC3	SEMA3E	EHMT1	BBS7	MBTPS2	MED25	VHL	CLCN5	TPRKB	PUS3	SMARCB1	COL4A1	SMARCAL1	CASR	NEUROD1	COL4A3	FREM2	COLEC10	MAD2L2	SHANK3	FANCA	MT-TF	HS6ST1	PTCH1	CLCN3	PEX6	RPL27	FANCB	JAK1	KNSTRN	TNXB	KDM6A	DYNC2LI1	COPB2	LAMB3	DDX6	PIK3C2A	ALMS1	SLC2A9	FAM20C	SLC34A3	RPL35A	RAI1	NUP37	MMACHC	SMOC1	DYNC2I1	RPS26	ITGB4	WNT4	NIPBL	CD96	FLNA	RMND1	LRP5	PRKACA	TTC37	PEX12	PLG	DUSP6	KCNA1	ARMC5	PIK3CA	TELO2	BLK	PCSK9	WDR62	SMS	ARID1B	RPS15A	IFT43	PLCE1	CEP41	PDX1	JAG1	CSPP1	MT-TL1	FGF8	GNB1	METTL27	RNU4ATAC	DHCR7	SOX10	KRT17	BCOR	PIGN	CEP57	NPHP3	MSH3	DYRK1A	DISP1	STS	WDR19	APOE	PEX16	FIG4	DCDC2	PKD1	ZPR1	PKHD1	GAPVD1	PBX1	GANAB	AIRE	RPL15	ADAT3	MYL9	PIK3CD	RTL1	TMEM231	KAT6B	RAD21	CHRM3	COX14	TRIM32	SLC12A1	NLRP3	WT1	DCC	GLI3	FGFR2	LEMD3	RAB3GAP1	TBX1	GBE1	SDHAF2	LIPT2	AP2S1	KCNH1	CIT	FGF20	CDC73	HNF1B	RBBP8	MCPH1	ADAMTS3	FBN1	KIF14	CYP24A1	PEX26	APRT	FKBP6	INVS	TMEM138	GCM2	MAPKBP1	CLPB	BRD4	CREBBP	PIGL	SMARCD1	PEX5	GLIS3	MT-TK	RET	OTUD5	GDF3	MKKS	GLMN	FAM20A	COL4A4	MYLK	BUD23	WFS1	LMNA	PMM2	MYOCD	FANCE	DNAJC30	DNA2	SDHB	TFAP2A	SLC34A1	PNKP	HSD11B2	FLI1	SLC5A1	PEX14	FAS	SAA1	PYCR2	SCN1B	SOX9	VPS37D	CLDN2	DEAF1	INS	EP300	RARB	TAPT1	C4A	CCNQ	SDCCAG8	RPS19	TMEM107	SCARB2	OSGEP	PIGT	DNAJC21	TP63	PDHA1	DSTYK	DNAJB11	MT-TE	TMEM67	SALL1	GON7	ADA	MT-ND6	SLC29A3	B4GAT1	MKS1	NFIA	TMEM260	TRIP13	IARS1	LMX1B	ZNFX1	KIF1B	PROK2	LMOD1	SHH	ARHGAP24	PIGQ	AHI1	PDE6D	XRCC2	TMEM127	HNRNPK	THOC6	CLDN10	IFT172	KCNE5	GLA	ETFA	WDR35	ADA2	AFF4	ADCY10	BRCA1	PORCN	GLIS2	CEL	SERPINH1	IQCB1	AKR1D1	NF1	YRDC	GAS1	FCGR2A	PROKR2	HDAC8	ALDH18A1	AKT3	BSND	RIPK4	ABCC8	ETFDH	INPP5E	PRKCD	G6PC1	BRAF	PRPS1	SLC6A17	SLC22A12	SCO2	CEP164	MAX	LAMA3	CFTR	TCTN2	HNF4A	OSTM1	PAX4	HGD	ACTG1	HSPA9	UBR1	ANTXR1	PRKAR1A	MT-TW	NUP85	TBX22	ZMIZ1	FGF13	SLC7A9	TMEM216	INSR	TBC1D24	RPS28	PRKCZ	DCHS1	TBX3	CENPF	GALNT3	PCK1	CDKL5	SLC26A1	TMEM237	ZNF148	FANCI	RPL35	NUP107	OCRL	KNL1	FKRP	RPL5	MYO1E	WAS	OPLAH	CLDN19	ALPL	FGFR3	UFD1	MAGI2	CCBE1	EN1	UBAC2	ADAMTSL1	ITGA6	DYNC2I2	DACT1	NUP133	VANGL1	MAGED2	PACS1	USP9X	SLC12A3	SLC37A4	HIRA	CFI	STX3	METTL5	PALB2	KCNAB2	FGFR1	MME	VIPAS39	SF3B4	AGPAT2	XPNPEP3	HYLS1	ANKS6	WASHC5	COG1	FANCG	DSE	LMNB2	PPP1R15B	APOL1	NPHS2	PIK3R2	ITGA8	AIP	RPGRIP1L	MDH2	ARX	SRP54	MT-CO3	CPLANE1	FAN1	TTC21B	SETBP1	SLC1A1	PDPN	PLEC	TP53RK	CCR1	GP1BB	NDUFB8	SLC30A9	COQ2	NSUN2	GDF6	ELP1	MCM5	ACTG2	HNF1A	GNAS	SEC24C	LONP1	MAPK1	CPT2	SIX5	SNRPB	LTBP4	MASP1	ZNF687	CFH	PTPN22	RFWD3	B9D2	APC2	AFF3	PEX1	POR	SLC6A20	SDHD	ARHGDIA	CTH	REN	HPRT1	G6PC3	PEX11B	PKD2	RSPO2	SPEN	KIAA0586	MAP2K1	FOXC2	DZIP1L	FCGR2B	FGF17	B3GALT6	FOXF1	RAB3GAP2	KMT2A	CEP83	MT-TS2	TDGF1	NUP93	TRIP11	PGAP3	CRB2	SLX4	ALG8	BICC1	NOS1AP	LRIG2	GDF2	PIGY	MEFV	KIF7	CDKN1B	BAZ1B	TCTN3	SMO	SDHC	LHX1	SLC4A1	EBP	NOTCH2	SCAPER	WIPF1	MAP3K7	TRAF3IP1	MFSD2A	MT-ND5	BBS10	TXNDC15	MT-TV	ERCC8	CRTAP	ENPP1	CCND1	MT-ATP6	COQ8B	SEC61A1	MPDU1	PDE11A	CCDC22	CEP152	FLCN	ERBB3	PLVAP	UBE2T	NBN	BBIP1	SPRY2	STRA6	DLK1	MRPS22	PEX2	BBS2	CHST14	SOX17	MT-ND4	FBLN5	C1QB	GEMIN4	WDPCP	ALG9	SLC35A2	FH	ATN1	INTS1	RORA	ANOS1	PTEN	MOCS2	TTC8	KCNQ1	MMUT	GPC4	SOCS1	PPP3CA	ACTN4	ZMYM2	RPL31	SON	ERCC6	SDHA	RPS29	B3GLCT	RPL11	GRIA3	NEK1	TSR2	ENG	RREB1	IQSEC2	CDKN2C	SLC7A7	CLIP2	MOCS1	EXTL3	NCAPD3	GTF2IRD1	RBM8A	CEP55	SIX1	CWC27	FASLG	COMT	KLF11	BNC2	GATA1	SKIV2L	SRCAP	RAD51	LPIN2	KANSL1	AMMECR1	MT-ND3	PREPL	GTF2I	SCN2A	ACTB	CTLA4	NCF1	ARL6	SLC25A11	LMNB1	KCNQ1OT1	ROR2	COPA	YY1	SUCLG1	TOR1A	MED12	CDKN1A	RPL18	AGT	AMER1	HLA-B	CEP63	IFT27	FIBP	MT-TH	DNMT3A	NDNF	MYCN	SMARCA4	IFT74	CFAP418	CASP10	CHD7	JAM3	CLCNKB	COLEC11	FANCL	PCK2	GNAO1	MID1	DAAM2	PHGDH	WAC	CA2	PTPN11	ABCC6	FUT8	SBDS	EMP2	MEOX1	SGPL1	HNRNPU	LDLR	BUB1B	ZEB2	PPP2R1A	WDR73	BCL7B	B2M	SLC3A1	TRNT1	CHUK	MYOD1	ARID1A	HLA-DPA1	USP8	ACVRL1	EYA1	NPHP4	RPS10	SIX3	TASP1	CDON	TOPORS	SOX11	GPKOW	INSL3	PPM1B	MT-CO2	STAT1	FLRT3	ATRX	PIGV	PRDM16	POGZ	RAB18	IFNG	KCTD1	NXN	ATP7B	POU3F4	GP9	DIS3L2	NUP205	BRF1	NDUFAF3	FAT4	AKT1	ARL6IP6	SMC1A	ATP7A	ATP6V1B2	NUP160	ANKRD17	KIAA0753	AGXT	MRPL3	VPS33B	PEX10	SLC36A2	CD2AP	SLC41A1	KYNU	TRRAP	DLL4	CENPJ	TLR4	RECQL4	DNASE1L3	RFC2	POMT1	FGF23	LIG4	ZIC2	BICRA	MYMK	BMP4	KCNJ1	KCNJ2	TGIF1	PGAP2	ETFB	GRHPR	CCDC141	SIK1	FOXH1	AGTR1	TCTN1	BMPER	FOXP3	GRM7	ABCG8	ZNF423	DMXL2	FLII	RPS24	MEG3	CFHR5	IFNGR1	CCND2	CASK	LAGE3	TBX18	MEN1	FN1	DVL1	DGKE	ZAP70	SASS6	SLC6A19	PRTN3	SOX18	WNT9B	COG6	KCNJ11	DHCR24	BUB1	AVIL	FUZ	HLA-DPB1	GLI2	ADGRG2	ACE	UBE2A	CACNA1D	MDM2	IL23R	BRCA2	WBP11	GRIP1	ANKLE2	NEK8	WNT5A	BCS1L	HLA-DRB1	PDSS2	PQBP1	C1QC	WDR11	FLNB	KAT5	MLXIPL	STK11	SRY	ARID2	NEUROD2	TRIM8	XRCC4	ASPM	TKT	MCTP2	APC	MT-CYB	FBXW11	SURF1	BTNL2	IGF2	TACR3	SPECC1L	LIMK1	CAMKMT	VPS33A	RPS17	RPS7	HMGA2	VAC14	PGM3	PUF60	HSD17B4	BBS9	CEP135	KMT2D	KIRREL1	SPOP	PEX13	CHRNA3	NRAS	FEZF1	MOCOS	UBE4B	ARVCF	SEC63	GLI1	CDK6	HOXD13	PAX7	SH2B1	IDH1	RPS27	HPSE2	SMAD4	DDB1	NSD1	ZNF699	ABCG5	CD81	SARS2	INTU	SOX4	DKC1	SETD2	SMARCC2	SHOC2	BSCL2	SEMA3A	ANLN	RPS20	ACSL4	PGM1	LAMC2	TBC1D20	PAX1	PEX19	ATP6V1B1	MMP23B	HAAO	MIA3	TXNL4A	IL17RD	SLC34A2	SMARCE1	EVC	SUFU	TRAPPC14	SPRED1	GNB2	RAF1	APPL1	NAA10	RPGRIP1	BUB3	POMT2	TBL2	YY1AP1	LAMB2	RPL26	MUC1	NSDHL	WNT3	CTNS	MAFB	CHN1	FANCM	MTRR	BBS12	STAG1	SLC9A3R1	TMEM270	BRIP1	VDR	RASGRP1	NCAPG2	BBS1	ACP5	IL10	ROBO2	HESX1	DPF2	LMBRD1	NDUFAF6	STX1A	GCK	PNPLA2	MMP1	RAB23	HS2ST1	CASZ1	COL7A1	ARL3	ITGA3	C3	NRIP1	TAF13	JMJD1C	IFT122	PLD1	GTF2IRD2	CLDN16	MTX2	PIGO	MT-ND2	DPH1	SPART	KCNJ5	PPP2R3C	XDH	DNASE1	LUZP1	SLC2A2	TBX15	NOD2	MAP2K2	COQ7	SSR4	GP1BA	IPO8	KLRC4	COL4A5	POLR3A	POLE	PHC1	PIGA	NDUFS2	SPINK5	IFT80	MYO5B	COQ6	CTNNB1	GABRD	SKI	CDK5RAP2	PTH1R	DLL1	SPRY4	COG7	ANKFY1	PIGP	EPAS1	TMEM218	MGME1	SLC25A22	CAPN15	MT-TQ	NARS2	DHX16	CLCNKA	LARGE1
HP_ABNORMAL_RENAL_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_PHYSIOLOGY	NPHS1	IL12A-AS1	ELN	OFD1	IL12A	UMOD	WAS	GSN	LZTFL1	PDX1	INF2	FAH	F2	GATA3	FANCC	CTNS	HOGA1	TRPC6	EIF4H	IFT140	FANCF	ERCC4	TTC26	FANCD2	C1QBP	FBLN5	GCK	ERAP1	NPHP1	HELLPAR	PAX2	PTPRO	WDR19	WDR4	ALOXE3	BBS5	TBC1D8B	RAD51C	DLST	PEX7	C1QA	PHKB	DMP1	MT-CO1	CCN2	CEP290	WT1	CEP19	DIS3L2	MT-ND1	SHPK	ATP6V0A4	TREX1	LTBP1	NDUFAF3	STAT4	F8	RNU7-1	SMC3	BBS7	PNPLA6	TSC1	CLCN5	TPRKB	PHYH	PUS3	COL4A1	SMARCAL1	NEUROD1	NDUFS8	DNAJB11	COL4A3	MAD2L2	EHHADH	FANCA	MT-TF	SPTBN1	JAK1	HRAS	KARS1	YAP1	ABCC6	ALMS1	NUP37	SERPINA1	MMACHC	NDUFB10	RMND1	ITPR3	BLK	ITGB4	IFT43	PLCE1	JAG1	CSPP1	CD109	MT-TL1	TIMMDC1	METTL27	KYNU	PGK1	CLCNKA	NPHP3	STS	FIG4	VHL	DCDC2	CPT2	PKD1	GATM	DHDDS	PKHD1	PKDCC	GAPVD1	PTPN22	PBX1	GANAB	MT-TT	ENPP1	RAD21	CHRM3	TRIM32	SLC12A1	ZFPM2	NLRP3	REST	NDUFAF4	GNAS	H19	ITGA2B	SDHAF2	GBA	CD46	AP2S1	IL17RA	F5	COL4A6	CDC73	HNF1B	PDSS2	CORIN	TCN2	SLC5A2	CYP24A1	TTR	APRT	NDUFS7	FKBP6	INVS	GCM2	MAPKBP1	CLPB	BRD4	FLT1	DYNC2H1	RET	MKKS	TSC2	RYR1	ERCC6	FAM20A	COL4A4	HMGA2	WWOX	CLCNKB	BUD23	TRIP13	NFS1	PMM2	MYOCD	FANCE	DNAJC30	SDHB	STX11	HSD11B2	SLC5A1	BRCA2	FAS	SAA1	CCND1	VPS37D	INS	C4A	SDCCAG8	HPRT1	SCARB2	LDHA	OSGEP	ERCC8	CACNA1S	SCNN1B	EIF2AK3	MT-TE	SALL1	GON7	AVPR2	LIPN	TMEM138	APOA1	TMEM260	LMX1B	ZNFX1	FIP1L1	B2M	ATP1A1	ARHGAP24	YWHAE	LCAT	AHI1	XRCC2	TMEM127	LIG4	CLDN10	IFT172	KCNE5	GLA	ETFA	TMEM67	AGGF1	SLITRK6	BRCA1	ACP5	PRF1	GLIS2	CEL	OCRL	IQCB1	NF1	NDUFB3	YRDC	MT-ND6	FCGR2A	HDAC8	ALDH18A1	BSND	ABCA12	ABCC8	ETFDH	STAT3	INPP5E	PRKCD	G6PC1	PRPS1	SLC22A12	SCO2	CEP164	FOXRED1	CLEC7A	IRF5	HNF4A	PAX4	SLC4A4	HGD	CC2D2A	UMPS	CEP120	MT-TW	NUP85	SLC7A9	TMEM216	ALDOB	GALNT3	SLC26A1	CDK4	SLC25A20	NUP107	MAFB	CFI	MYO1E	NEXMIF	NDUFAF2	CLDN19	IRAK1	C3	MAGI2	UBAC2	ITGA6	NUP133	VANGL1	MAGED2	SLC12A3	SLC37A4	STX3	PALB2	MME	VIPAS39	XPNPEP3	HPS1	ANKS6	COG1	FANCG	MKS1	STOX1	LMNB2	APOL1	NPHS2	HLA-B	MDH2	MT-CO3	FAN1	TTC21B	KCNJ10	PHKA2	XYLT2	SHANK3	TP53RK	CCR1	GP1BB	NDUFB8	LAMB2	TMEM126B	SLC30A9	COQ2	ELP1	ADA	HNF1A	ZNF592	SIX5	TRAF3IP2	SRY	CFH	ZBTB16	PIGA	APC2	CPOX	ARHGDIA	MT-TK	REN	NDUFS3	PKD2	NIPBL	DCLRE1C	APOE	NDUFB11	KIAA0586	ZNF423	SNAP29	DZIP1L	FCGR2B	MAP3K1	COA8	PC	CEP83	MT-TS2	NR5A1	NDUFS4	OCLN	ALDOA	NUP93	BCS1L	CRB2	SLX4	BICC1	NOS1AP	LRIG2	GDF2	MEFV	CHD7	BAZ1B	SDHC	LHX1	SLC4A1	KCNJ5	SCAPER	WIPF1	TRAF3IP1	AQP2	MT-ND5	BBS10	CFHR3	F10	COQ8B	SEC61A1	DYNC2LI1	HLA-DRB1	NUMA1	DMRT3	RPGRIP1L	CFB	PLVAP	UBE2T	NOD2	MMUT	GPR35	BBIP1	SPRY2	TAOK1	HOXA13	BBS2	CHST14	LPIN1	NDUFA11	C1QB	WDPCP	TBL1XR1	SLC35A2	FH	TTC8	STXBP2	TMEM231	SOCS1	TGM1	ACTN4	CD151	WDR73	NDUFV2	NDUFA6	ITGA2	RFWD3	SON	SDHA	CA2	ENG	SLC7A7	CLIP2	SERPINF2	SDHD	GTF2IRD1	RMRP	NUBPL	SIX1	FASLG	IL7R	KLF11	TMEM237	BNC2	RAD51	RAG2	LPIN2	AMMECR1	NDUFV1	GTF2I	CTLA4	NCF1	SLC25A11	COPA	MT-ND3	PEX19	TCF4	MED12	WFS1	AGT	ALG1	PGAM2	RAG1	IFT27	MT-TH	SPP1	KANK2	DNMT3A	MDM2	NDUFS6	ALG9	MYCN	IFT74	CASP10	NDUFAF1	NABP1	ADA2	RASA1	LRP2	PAFAH1B1	FANCL	NTRK1	NDUFS1	LMAN1	THBD	PHKG2	NADK2	DAAM2	CHD4	TRIM28	CASR	EMP2	SGPL1	WDR35	SREBF1	BCL7B	HLA-DPA1	NDUFS2	ACVRL1	EYA1	NPHP4	PAX6	MYH11	SLC17A5	UQCC2	MT-CO2	STAT1	KIF1B	CAV1	KCTD1	ATP7B	GP9	NUP205	FANCB	FANCI	SMC1A	MYD88	NUP160	DNASE1L3	EPG5	AGXT	EFEMP2	CCNQ	VPS33B	BCOR	VAMP7	CISD2	HBB	CD2AP	DYNC2I1	PLG	MYH9	NR0B1	SLC41A1	EHMT1	SLC34A1	TLR4	RFC2	CCR6	PML	PRDX1	SLC2A2	GCDH	LYZ	KCNJ1	KCNJ2	POU6F2	CPT1A	SDR9C7	ETFB	GRHPR	AGTR1	FOXP3	MARS1	CYBC1	SLC34A3	CFHR5	IFNGR1	SLC26A4	LAGE3	TBX18	RRM2B	MEN1	FN1	DGKE	ZAP70	PRTN3	SOX18	COG6	KCNJ11	CYP4F22	CFAP418	SLC2A9	AVIL	SLC3A1	FUZ	HLA-DPB1	PHEX	UNC13D	NPM1	ACE	IL23R	MT-ND4	C1QC	FGA	ADAMTS13	PPOX	CAD	MLXIPL	NDUFA1	NDUFB9	NDUFAF5	TRIM8	SOX9	CFHR1	SURF1	BTNL2	LIMK1	XYLT1	VPS33A	VAC14	PGM3	BBS9	KIRREL1	STAT5B	CHRNA3	MOCOS	IL17RC	MCFD2	NDUFAF8	IL17F	SH2B1	SMAD4	NSD1	ZNF699	MT-ND2	CD81	NIPAL4	SARS2	NOTCH2	PRKAR1A	SETD2	ANLN	ACSL4	ALOX12B	ATP6V1B1	ITGB3	P4HA2	SCNN1A	SLC34A2	SCNN1G	APPL1	DACT1	TBL2	YY1AP1	MUC1	ALDH4A1	CYB561	FANCM	MTRR	HMBS	BBS12	FBXL4	IKZF1	GATA4	IL2RG	RARA	TMEM270	BRIP1	BBS4	RASGRP1	BBS1	IL10	SEMA4D	DSTYK	STAT2	NDUFAF6	STX1A	GPC3	GP1BA	SRCAP	FXYD2	MMP1	COL3A1	COL4A5	HMOX1	COL7A1	PYGM	HIC1	ITGA3	MT-TN	IFT122	GTF2IRD2	CLDN16	ARL6	HPSE2	NEK8	XDH	DNASE1	PRODH	MST1	MAX	SULT2B1	DYNC2I2	KLRC4	IRF2BP2	FOXI1	DHX37	IFT80	LEMD3	MYO5B	COQ6	IFIH1	IL6	ANKFY1	EPAS1	MT-TQ
HP_ABNORMAL_GLOMERULAR_FILTRATION_RATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GLOMERULAR_FILTRATION_RATE	CLCNKB	GANAB	PKD2	BICC1	SLC7A7	SLC22A12	SLC37A4	MUC1	CLCNKA	PUS3	CASR	BSND	HGD	SLC2A9	CYB561	ALG9	DNAJB11	ITGA3	PKD1	AGXT	G6PC1
HP_ERYTHEMA_NODOSUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERYTHEMA_NODOSUM	XIAP	NOD2	LRBA	NLRP12	PSMB8	BTNL2	ADA2	HLA-DRB1
HP_ARACHNOID_HEMANGIOMATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARACHNOID_HEMANGIOMATOSIS	GNAQ	TMEM127	NF1	SDHB	SDHC	SDHAF2	SLC25A11	RET	MAX	KIF1B	SDHD	FH	SDHA	DLST	VHL	MDH2
HP_URETHRAL_STRICTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_URETHRAL_STRICTURE	FLT4	ZMYM2	MKKS	FERMT1	PLEC	TERT	COL7A1	LAMA3	LAMB3	ITGB4	POLA1	PKP1	MMP1	ITGA6	CDC45	LAMC2
HP_CSF_PLEOCYTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CSF_PLEOCYTOSIS	STX11	CACNA1A	SAMHD1	NOTCH2NLC	RNASEH2B	LSM11	RNASEH2C	UNC13D	TREX1	UNC93B1	ADAR	RNASEH2A	TRAF3	SCN1A	TICAM1	PRRT2	TBK1	PRF1	TLR3	STXBP2	ATP1A2	IFIH1
HP_RHEGMATOGENOUS_RETINAL_DETACHMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RHEGMATOGENOUS_RETINAL_DETACHMENT	RPE65	COL2A1	TSPAN12	FZD4	NDP	LRAT	LCA5	ZNF408	LRP5	CTNNB1	SPATA7
HP_EXUDATIVE_RETINAL_DETACHMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXUDATIVE_RETINAL_DETACHMENT	IGFBP7	CFI	EFEMP1	CFH	FRG1
HP_SHORTENED_QT_INTERVAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORTENED_QT_INTERVAL	KCNH2	CACNA2D1	CACNA1C	CDC73	KCNQ1	CDKN2C	CACNB2	CDKN2B	CDKN1B	KCNJ2	CDKN1A	MEN1	SLC4A3
HP_INTRAMUSCULAR_HEMATOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRAMUSCULAR_HEMATOMA	SERPINE1	F13A1	SERPINF2	F8	F13B	F10	F7	F2
HP_INCREASED_INTRAMYOCELLULAR_LIPID_DROPLETS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_INTRAMYOCELLULAR_LIPID_DROPLETS	AFG3L2	GABRA3	ISCU	ABHD5	MSTO1	KCNJ18	NDUFA4	NDUFS4	CHCHD10	SURF1	SDHA	CACNA1S	SUCLG1	COX6A2	SCN4A	MT-TN	KCNE3	COQ8A	PNPLA2
HP_ABNORMAL_SEX_DETERMINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SEX_DETERMINATION	NR0B1	CYP11A1	AKR1C2	CYB5A	CBX2	DMRT3	SOX9	DHX37	VAMP7	MAP3K1	SRY	ZFPM2	AKR1C4	WNT4	NR5A1	RSPO1	GATA4	WT1	WWOX	CILK1	DHH	CYP17A1
HP_SEX_REVERSAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEX_REVERSAL	NR0B1	CYP11A1	AKR1C2	CBX2	SOX9	MAP3K1	SRY	CILK1	DHH	ZFPM2	AKR1C4	WNT4	NR5A1	RSPO1
HP_OCULOMOTOR_NERVE_PALSY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCULOMOTOR_NERVE_PALSY	TRPV4	SUFU	AKT3	CDH23	COL3A1	PLEC	MEN1	SMARCE1	NF2	PIK3CA	BAP1	TGFBR3	THSD1	TRAF7	TERT	UGT1A1	PDGFB	SMO	SALL4	ENG	SMARCB1	AIP	MYMK	MAFB	AKT1	CHN1	ANGPTL6
HP_PROLONGED_PR_INTERVAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLONGED_PR_INTERVAL	TLL1	GNB5	SCN2B	NKX2-5	GPD1L	SLC12A3	KCNA5	CLCNKB
HP_ABNORMAL_ST_SEGMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ST_SEGMENT	PKP2	GATA4	ABCC9	SCN2B	SLC12A3	SCN5A	KCND3	GYG1	CACNB2	SCN1B	CITED2	TBX20	HCN4	TLL1	GATA6	KCNE3	CACNA1C	SCN3B	SEMA3A	POLG	RANGRF	AKAP9	CLCNKB	GPD1L	RYR1	SCNN1A	TNNC1	KCNE5	KCNJ8	MYH6	ACTC1	SCN10A	SLMAP	NKX2-5	CACNA2D1	TRPM4
HP_ST_SEGMENT_DEPRESSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ST_SEGMENT_DEPRESSION	TBX20	GATA4	SLC12A3	CLCNKB	RYR1	TNNC1	CITED2	MYH6	ACTC1	TLL1	GATA6	NKX2-5
HP_ST_SEGMENT_ELEVATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ST_SEGMENT_ELEVATION	PKP2	ABCC9	SCN2B	SCN5A	KCND3	GYG1	CACNB2	SCN1B	HCN4	KCNE3	CACNA1C	SCN3B	SEMA3A	POLG	RANGRF	AKAP9	GPD1L	SCNN1A	KCNE5	KCNJ8	SCN10A	SLMAP	CACNA2D1	TRPM4
HP_ABNORMAL_RESPIRATORY_SYSTEM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RESPIRATORY_SYSTEM_MORPHOLOGY	TP53	IL12A	KAT6A	WAS	AGRN	ZEB2	TBCE	TIMMDC1	PYROXD1	REL	SHH	FCGR2A	HYLS1	GATA6	RRAS	DPM2	TBX20	GPC3	JAK3	PARN	CDC42	IL6ST	PIK3R1	RYR1	SNRPN	BCOR	HSPG2	TGIF1	SLC22A18	MED27	IFT140	HDAC4	TCF3	TAP1	SELENON	RUNX2	ERCC3	FANCF	ERCC4	TTC12	FANCD2	RBM10	FBLN5	USB1	TUBG1	HELLPAR	PRMT7	UMPS	PAX2	WDR19	CTSK	ALOXE3	ZIC3	CHRNG	RSPH1	TRIP4	TBCD	CTC1	MYCN	TECPR2	CCN2	COLQ	TSC1	OFD1	MARS1	DIS3L2	ASAH1	GBA	DEF6	TAF1	NHP2	EMC10	ACADVL	BLNK	LTBP1	STAT4	FOXJ1	CASP8	CYP2A6	CDON	EHMT1	CIITA	TRIP12	LRRC8A	GMNN	NAA10	IGHM	SMARCB1	STAT3	RARB	EFEMP2	MAD2L2	EHHADH	SDHD	FANCA	KMT2C	GALC	TGFBR1	BRAF	ELANE	CAV1	LAMB3	TBK1	FBXW11	SGSH	CACNA1B	SRP54	FAM20C	RAI1	NUP37	DNAAF6	SFTPB	RTEL1	IL1RN	NFKBIA	TCF20	WNT4	NIPBL	FLNA	JAG1	SIX3	IFT81	ODAD3	TMEM94	DCTN1	BRF1	TARS1	POLA1	TONSL	ARID1B	CSPP1	ALX3	DISP1	RLIM	SCN10A	CALCRL	MDM2	KATNIP	CFAP298	TGFBR2	NCF4	MYT1L	ESS2	FADD	OCA2	MATR3	PKHD1	PKDCC	SCNN1G	GAPVD1	ALMS1	LACC1	ARNT2	PLOD1	RSPO2	MYL9	RTL1	KAT6B	CHRM3	COL13A1	REST	CCDC39	ELN	H19	IL21	VPS13B	DNAAF11	TBX1	F5	ODAD1	KRAS	HLA-DRB1	FGF20	NODAL	ZMPSTE24	FRAS1	NLRC4	ADAMTS3	MGP	TERT	INVS	CLPB	NDN	FGF8	PON3	MS4A1	HPDL	SMARCD1	RB1	HELLS	TSC2	CCDC65	DGCR2	GAS1	EMG1	PLCG2	MAGEL2	BUD23	TERC	MKKS	SPINK1	TRIP13	PMM2	FANCE	DNAJC30	GRIP1	CHRND	SH2D1A	RNU4ATAC	PUS7	LGI4	RAG1	NLRP1	FLI1	SIAH1	SNX10	BRCA2	SYNCRIP	ZFTA	CCR6	AASS	DCLRE1C	DEAF1	GUSB	RCBTB1	SFTPC	TAPT1	AGO2	CCNQ	FGFR1	LYST	EMC1	HACD1	PDHA1	SLC26A2	TNFRSF13B	CFAP52	SCNN1B	CXCR4	TMEM260	EP300	DVL3	SPTBN1	IL2RG	IRAK4	FIP1L1	YARS1	HLA-B	SCNN1A	ALG14	SMPD1	LIG4	KAT8	GLA	GSTM3	ETFA	LEP	VAPB	WNT7A	WDR35	AFF4	BRCA1	UBQLN2	MYOD1	CRELD1	EFL1	DYNC2I1	DRC1	BMP15	ALDH18A1	TBC1D8B	FLNB	PURA	KDM4B	IKBKB	FIG4	DSG1	SERPINA1	STAG2	CLEC7A	LAMA3	GLB1	GSN	COL5A2	LRP12	NUP85	ALG12	AICDA	PTPRC	RAPSN	CHMP2B	NDUFB10	CYP27A1	KNSTRN	NCF2	SEMA3E	SCUBE3	MYO1E	CD247	TNRC6B	UNC119	TNFSF12	IRAK1	ABCA3	COL4A3	FGFR3	UFD1	SALL4	MANBA	CTSC	CCBE1	HLA-DQA1	CARD11	PLA2G6	PIGT	PFN1	CD27	SYT2	RALGAPA1	USP9X	LMNA	NPM1	GLI2	WASHC5	CLCN7	EDNRA	OCRL	DSE	SOS1	ACTL6A	ITGA8	PSMB4	NKX2-1	SETBP1	EPHA4	KCNJ10	MAP3K7	HGSNAT	MYL2	SLC25A22	NUP107	TGFB3	COL3A1	ELP1	MAPK1	ADA	NRAS	MUSK	LONP1	NAB2	CTRC	TRAF3IP2	SNRPB	LTBP4	ZBTB16	WT1	CD79B	HS2ST1	CCNO	TGFB1	SRCAP	PKD1L1	SIX2	ITK	SOX2	REN	VCP	RFXAP	MESP2	TAF15	CD3G	NFKB2	VAMP1	NUP133	GABRG2	B3GALT6	CFTR	NEK9	SPTBN4	NUP93	DNAI2	SCN11A	PAFAH1B1	DLL3	DNAAF5	NIPA2	PRKAG2	LZTR1	BAZ1B	MEG3	ATM	NEU1	ACTA1	RAC2	EBP	TCTN3	WIPF1	HNRNPA1	RNF168	SERPING1	PON2	POLE	LBR	RMRP	NCF1	SYK	NPHS2	COQ8B	ZFPM2	FUS	DYNC2LI1	NUMA1	BTD	FLCN	TYR	NOP10	UBE2T	NBN	GLUL	TAOK1	CHST14	FCHO1	ERCC6	TNFRSF1A	SLC11A1	ASXL3	PTEN	SOCS1	ACTN4	FCGR3A	FUZ	TK2	CSF2RA	SF3B4	RFWD3	IL7R	UNC13A	DGCR8	ARHGDIA	ENG	IQSEC2	SLC34A2	SLC7A7	CLIP2	TRIM2	SERPINF2	FAS	GTF2IRD1	CEP55	BTK	ADAMTSL2	PERP	IRF5	XPNPEP2	SFRP4	HK1	KANSL1	COL6A1	LEPR	GTF2I	NFE2L2	CTLA4	AK2	ARSL	TIMM8A	ZNHIT3	GDF1	ANKH	KRT5	SUCLG1	AHDC1	TCF4	CFB	IGKC	GPC4	NHLRC1	INTU	MPLKIP	MITF	COL2A1	SLC25A1	LETM1	FBN2	MSH6	SPP1	HYDIN	RANBP2	FOXH1	ZCCHC8	SMARCA4	PIK3CA	CASP10	NABP1	ALB	CITED2	NTRK1	TBX6	NEK1	DNAH1	SFTPA2	SLC25A24	SH3KBP1	DSP	SMC1A	TDGF1	TRIM28	NAGLU	CASR	ARHGAP31	PLEC	SLC1A4	MAPK8IP3	MRAS	SREBF1	BUB1B	CFAP300	HPGD	KIAA0586	CD3D	ABL1	MKRN3	TREX1	WDR26	TASP1	STAT1	FGFR2	CHD7	FANCL	SMAD3	IFNG	PIGN	PROKR2	DNAJC21	IGLL1	GLE1	RPGR	RSPH3	CCDC32	FAT4	GATA2	LRBA	NUP160	BCL6	ASXL1	SPIDR	POLR2A	KCNJ6	IL12RB1	CD2AP	PLG	MEFV	TRRAP	PANK2	SLC34A1	TLR4	XIAP	RAB3GAP2	SOD1	DICER1	EMP2	CD55	PIEZO1	SMARCD2	PRKG1	TYK2	DNAAF4	DOK7	MYMK	UNG	CR2	RFX5	TNFRSF13C	NFKB1	NCKAP1L	FOXP1	FARSA	PTH1R	SDR9C7	ETFB	BLM	AP3B1	RASA1	RAD51C	KIF7	PLP1	AGTR1	ATRX	ACTC1	FOXP3	TCOF1	TRAIP	PCNT	STAT6	NEB	PPARGC1A	COL11A1	IFNGR1	EPHB4	MYSM1	CDT1	SAMD9L	EDN1	FOXE1	PPP1CB	PRTN3	PEX13	PIK3CD	WNT9B	NUP88	CYP4F22	SMARCA2	HLA-DPB1	ARSB	CCDC103	MUC5B	PIGO	SATB1	B2M	CSF2RB	DPP9	CHRNA1	IL23R	DYNC2H1	PRKDC	CEP57	NEK8	IVNS1ABP	TINF2	GRHL3	ERBB4	EDARADD	DNAL1	GNPTAB	MLXIPL	PRPS1	PRPH	ARID2	MCTP2	INPPL1	CD79A	TBC1D24	APC	MT-CYB	BTNL2	DGCR6	OPTN	PRKAR1A	VPS33A	COL11A2	PSMB8	DOCK8	PGM3	PUF60	IER3IP1	KMT2D	SFTPA1	GAS8	NOS1	MBTPS2	RAB27A	CD3E	MPEG1	CYBB	CD40LG	DLL1	DNAAF3	IL17RC	NSD2	SLC35A1	WRN	ARVCF	TPM3	NKX2-5	KIF20A	SNAP25	CREBBP	HOXD13	NOTCH2	NHLRC2	IL17F	DCTN4	IDH1	SLC12A6	FCN3	SMAD4	SPEF2	MFAP5	TANC2	AP3D1	TBX3	LRIF1	ITPR1	TNNI3	SOX4	LAMB2	DDX6	DNAI1	BMPR2	DKC1	BCAS3	POR	SMARCC2	SAMD9	FCGR3B	ALOX12B	RAC1	TBC1D23	NIN	HAAO	SOX3	DNAAF1	SLC9A3	SOX18	AGA	GTF2H5	MGAT2	EIF2AK4	EVC	DAO	CRB2	COL12A1	PEPD	FAM111B	CARMIL2	ADNP	ALX1	CLCA4	RPS15A	SPECC1L	IKZF1	STXBP2	ZIC2	BRIP1	HFE	RIPK4	SEMA4D	DPF2	GLT8D1	SIM1	NDUFAF6	STX1A	PTPN11	SCARF2	RSPH4A	CD28	MEIS2	NEK10	SLC18A3	DHCR24	MYH6	PIEZO2	NGLY1	JMJD1C	MLH1	BCR	GTF2IRD2	MIR140	DNAAF2	PRKCD	IL21R	DNASE1	MED12	APOL1	HES7	KIF22	DYNC2I2	COQ7	MID1	NUP205	TGFB2	CFAP45	CDKN2A	KLRC4	IRF2BP2	LMNB1	ZAP70	SPINK5	STAT5B	TBX5	CD19	IFT80	TRPC6	SQSTM1	PPP1R21	WNT3	EDNRB	IDS	DNMT3B	DNAH11	TAP2	ORC4	SMCHD1	CYBC1	JARID2	MALT1	FSHR	NPHS1	IL12A-AS1	NTNG2	MYO9A	CCDC40	PLXND1	RIPK1	MAT2A	SMG8	TRPV3	ATP5F1A	RIT1	FANCC	CEP120	COL6A2	PNP	EIF4H	GREB1L	TTC26	PRRX1	LIFR	PSAP	LRRC56	ERAP1	UBB	SLC2A10	CC2D2A	RSPRY1	RPL10	EVC2	TAPBP	HESX1	CRKL	MLX	F12	CORO1A	PTPN23	MSH2	MASP2	CPLX1	FREM2	POLR1D	ALG3	STIL	FANCB	HRAS	RSPH9	KDM6A	CHAMP1	WDFY3	SGCG	COL6A3	MSN	GJA1	DNAH5	MIF	PTCH1	TTC37	FUCA1	GATA4	PSMC3IP	PTCD3	IFT43	PLCE1	HYOU1	BCORL1	DNAJB13	GCLC	METTL27	SLCO2A1	NPAP1	DHCR7	TRIP11	MYH11	NPHP3	GATM	SP110	STN1	RELA	PTPN22	MYPN	PABPN1	GALNS	GLI3	NR1H4	FERMT1	C2CD3	IL17RA	SPAG1	COL4A6	FARSB	SYT1	HPS4	KMT2E	COL14A1	UBE3B	RIPPLY2	FKBP6	TPP2	IL2RB	ANO3	DOCK6	EGFR	OTUD5	SNIP1	ICOS	GLMN	PAX3	CAT	SLC6A14	TCF7L2	IGBP1	CTPS1	TTC7A	SOX9	CCND1	ASCC1	VPS37D	NLRP12	SATB2	FAM13A	C4A	C9orf72	SMAD2	TP63	ARHGEF1	CRLF1	ANXA11	LIPN	SNORD115-1	DLL4	KIF11	SLC29A3	CCNF	TSPYL1	MYLK	KLHL40	ZNFX1	ANG	FLT4	ARHGAP24	IFIH1	ORC6	HEY2	XRCC2	COG4	SETD1A	AGGF1	ADA2	ACP5	PORCN	LRP4	KCNJ2	TNFRSF11A	SOX10	PIGG	ZMYND10	ARMC2	MYBPC3	GFI1	CD8A	ABCA12	ETFDH	PET117	ODAD2	ZBTB24	CTCF	RAF1	HLA-DQB1	NIPA1	STX3	EXT1	VPS51	DCHS1	RELB	UGP2	PAX6	IDUA	RAG2	CFI	NOTCH3	NECTIN1	ALPL	VHL	UBAC2	ECM1	MTM1	VANGL1	MDM4	PDGFRB	HIRA	MCIDAS	PALB2	MYRF	MAP3K8	CHAT	CBL	ATP6V1E1	HPS1	FANCG	FGF10	FBN1	IGSF3	APOE	NF1	NOTCH1	CCR1	ERBB2	GAS2L2	SOS2	SEC24C	FASLG	ITCH	CDCA7	ERCC2	MRPS22	TLL1	TRIM37	TCIRG1	SLC12A2	ANKRD17	MYH3	CFAP410	APC2	G6PC3	KEAP1	BAP1	FOXC2	FCGR2B	FOXF1	MAGT1	HMOX1	RASGRP1	GPC6	MYO5A	MTHFD1	KITLG	SLX4	PSMB9	GDF2	RFXANK	IL2RA	TRPV4	SMO	MAN2B1	JAGN1	KPTN	RRAS2	CD81	UBE2A	PDE4D	CRTAP	SHROOM4	MPDU1	CCDC22	SVBP	TFG	PCGF2	FREM1	PLVAP	FMO3	HERC2	GPR35	NKX2-6	STRA6	DLK1	KIAA0319L	AARS2	STK36	TBL1XR1	ALG9	WASF1	SLC35C1	GAA	GRIN2A	TGM1	OTX2	SON	WDR1	EPG5	ACVRL1	RREB1	EXTL3	BCL10	TARDBP	CD4	SNAI2	LCK	COMT	ZMIZ1	MYO1H	CFH	TRMT1	SKIV2L	GIPC1	RAD51	LPIN2	TNNT2	ROR2	COPA	DOCK3	SCN9A	NELFA	RHOH	POLR1C	LAMTOR2	DZIP1L	AGT	AMER1	SDCCAG8	PEX5	ODAD4	EXT2	DDR2	GTF2E2	ACTL6B	FOXN1	LAMA2	SMN1	DPYSL5	ERF	NADK2	PHGDH	TFRC	WAC	ITGA7	EWSR1	BNC1	OSTM1	KCNMA1	TNFRSF1B	BCL7B	COL5A1	CHUK	ARID1A	HLA-DPA1	BPTF	BIRC3	IL6	NEPRO	SOX11	GPKOW	MED25	MAP3K20	SBDS	NXN	NR5A1	UBA1	AKT1	FANCI	ATP6V1B2	MYD88	SCARB2	CEACAM6	TP73	DDRGK1	BCL2	SLC41A1	KLHL41	SLC46A1	PON1	DNASE1L3	RFC2	ATXN2	IFT172	MAGI2	UBR7	CD46	PML	TPM2	SPRED2	SLC5A7	GRIA4	ADGRG6	POU6F2	CHEK2	IGHG2	CTBP1	KRT14	AAGAB	IL12B	LTBP3	HS3ST6	ADARB1	BMP2	FLII	CHCHD10	SLC26A4	PIGL	KIF1A	PEX1	BUB1	RNF2	NTNG1	MMP21	EXOSC9	PRKN	B3GLCT	KCNN4	CNOT3	ACE	PDGFRA	WBP11	GP1BB	SNORD116-1	MCM4	SRPX2	COG6	RIN2	CFAP221	FLNC	EOGT	MOGS	LMOD3	STK11	DONSON	STING1	IRF4	TET2	TREM2	EIF4A3	PSMD12	ZNF341	MED13	LIMK1	CLCN3	MST1R	IRF8	CARD10	SLC26A9	BACH2	GLI1	RNF125	DPAGT1	NSD1	HPS6	ZNF699	RET	NSMCE3	BCL11B	NIPAL4	SETD2	MADD	RPL5	CACNA1C	EPM2A	LAMC2	PALS1	SCN4A	MECP2	LFNG	PTPRO	NOTCH2NLC	POLR3A	CDC45	IL6R	GLDN	TNFSF11	P4HA2	SMARCE1	SPRED1	ATP11A	MKS1	ANLN	BUB3	TBL2	RSPO1	NSDHL	PWAR1	DYM	GIMAP5	CYBA	RASA2	FANCM	LOX	GNS	PRSS1	TTC21B	NFIX	RARA	TMEM270	POLR3H	FMR1	IL10	ATP6V0A2	HTT	KDM5C	ACTA2	DNAH9	MYH7	PPP2R1B	RNF113A	COL4A5	ADAMTS2	POLR1B	TOM1	LMBRD2	SIK1	ITGA3	P4HTM	CEACAM3	IRF1	SNAP29	MAP2K1	TRPS1	LAT	MST1	NME8	PWRN1	SULT2B1	NOD2	NEFH	IRF9	FOXE3	PKP1	BMPER	IPO8	FOXI1	WRAP53	THOC2	HUWE1	ANKFY1	PRSS2	RBPJ	NDUFC2	INF2	TRAPPC4	SLC52A3	CAPN15	BGN
HP_ABSENT_INNER_DYNEIN_ARMS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_INNER_DYNEIN_ARMS	DNAAF3	DNAAF1	TTC12	CCDC39	DNAAF11	CFAP300	ZMYND10
HP_ABSENT_INNER_AND_OUTER_DYNEIN_ARMS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_INNER_AND_OUTER_DYNEIN_ARMS	DNAAF3	TTC12	DNAAF11	CFAP300	ZMYND10
HP_ABNORMAL_RESPIRATORY_MOTILE_CILIUM_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RESPIRATORY_MOTILE_CILIUM_PHYSIOLOGY	DNAH5	DNAAF3	DNAAF1	RSPH4A	CCDC40	TTC12	CCDC103	DNAI2	DNAAF2	HYDIN	RSPH9	DNAAF4	DRC1	CCDC39	DNAAF11	DNAAF5	ZMYND10	DNAI1	ODAD2	DNAH11	NME8	ODAD1	ODAD3	CFAP298	RSPH1	GAS8	STK36	RSPH3	CCDC65	SPAG1	DNAJB13	CCNO	DNAL1
HP_IMMOTILE_CILIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMMOTILE_CILIA	RSPH3	DNAAF3	RSPH4A	TTC12	DNAI1	DNAAF4	CFAP298	DNAAF11
HP_ABNORMAL_MUSCLE_GLYCOGEN_CONTENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MUSCLE_GLYCOGEN_CONTENT	PFKM	PYGM	MSTO1	ENO3	PHKB	PHKA2	GYS1	MT-TE	PHKG2	GYG1	TRMU
HP_DIGITAL_FLEXOR_TENOSYNOVITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIGITAL_FLEXOR_TENOSYNOVITIS	PTPN22	NFKBIL1	SLC22A4	IL10	CD244	CIITA	TTR
HP_ABNORMAL_CIRCULATING_SERINE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_SERINE_CONCENTRATION	PSPH	SLC7A7	PSAT1	SLC25A13	PHGDH
HP_ABNORMAL_HYPOTHALAMUS_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HYPOTHALAMUS_PHYSIOLOGY	PTCH1	DCC	SHH	ZIC2	SIX3	FGF17	TGIF1	STAG2	TACR3	STIL	HESX1	CDON	PROKR2	BAP1	GLI2	SIM1	FGF8	SMARCE1	FGFR1	NF2	NDNF	FOXH1	DLL1	TRH	FEZF1	GAS1	TRAF7	CCDC141	SMO	AKT1	DISP1	NODAL	TDGF1	SEMA3A	HS6ST1	SMC1A	CHD7	SMARCB1	ANOS1	LHX3	SUFU	IL17RD	DUSP6	FLRT3	PROK2	SPRY4	TERT	PDGFB	SOX10	MAGEL2	PIK3CA	WDR11
HP_ABNORMAL_HYPOTHALAMUS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HYPOTHALAMUS_MORPHOLOGY	SMO	CPLANE1	TOPORS	VPS16	TCTN3	KIAA0753	OFD1	PDE6D	SPG11	SOX2	LEPR	SIX6	TMEM216	CDH2	KIF7	FAM149B1	GLI3	CTNNB1	BRAF
HP_NEOPLASM_OF_HEAD_AND_NECK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_HEAD_AND_NECK	CTHRC1	ASCC1	SDHA	RNF6	WWOX	STK11	STAT1	SDHB	MINPP1	TGFBR2	APC	PRKAR1A	CHEK2	RAD21	RHBDF2	RSPRY1	KIT	FH	DLEC1	COL4A5	FOXE1	PDGFRA	BLM	MDM2	COL4A6	MSR1	AAGAB	HABP2	DCC	CDKN2A	MYH11	TP53	SDHC	COL14A1	LZTS1
HP_TYPE_II_TRANSFERRIN_ISOFORM_PROFILE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPE_II_TRANSFERRIN_ISOFORM_PROFILE	COG4	SLC39A8	MAN1B1	COG1	COG6	COG5	ATP6AP2	MGAT2	SLC37A4	COG8	ATP6AP1	COG7	B4GALT1
HP_HERPES_SIMPLEX_ENCEPHALITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HERPES_SIMPLEX_ENCEPHALITIS	TLR3	TICAM1	NCKAP1L	HYOU1	STAT1	SNORA31	TBK1	UNC93B1
HP_ABNORMAL_AORTIC_ARCH_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_AORTIC_ARCH_MORPHOLOGY	RTL1	COMT	KRAS	TBX1	FGFR1	PLXND1	HIRA	PIK3R2	GATA6	GLI3	ACVR2B	NKX2-6	PPP1CB	GJA1	EP300	MCTP2	STRA6	ALG3	PPP2R1A	SMG9	FOXF1	GDF1	DGCR6	SUCLG1	IPO8	WDR26	MMP21	TTC26	PUF60	TMEM260	CREBBP	DLK1	CHD7	FLT4	GNB2	MYCN	MEG3	DGCR8	SEMA3E	DGCR2	ARVCF	SEC24C	RREB1	DIS3L2	GP1BB	UFD1	PIGN	WT1	ESS2	NKX2-5	DNAH1	BCOR	CRELD1	JMJD1C
HP_HYPOPLASTIC_AORTIC_ARCH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_AORTIC_ARCH	PPP2R1A	PUF60	GNB2	NKX2-5	BCOR	FOXF1	PPP1CB	GJA1
HP_ABNORMAL_RIB_OSSIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RIB_OSSIFICATION	SLC26A2	LBR	MGP	COL10A1	EBP	BMPER	SRP54	DNAJC21	SBDS
HP_CUTANEOUS_AMYLOIDOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTANEOUS_AMYLOIDOSIS	B2M	POLA1	RET	NLRP1	IL31RA
HP_MONOCYTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MONOCYTOSIS	GFI1	ELANE	PIK3CD	KRAS	SRP54	G6PC3	ZNFX1	TCIRG1	NRAS	DDX41
HP_FIBROUS_TISSUE_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FIBROUS_TISSUE_NEOPLASM	HRAS	ABCA5	FASLG	APC	SEC23B	CDC73	SUFU	MEN1	KIT	CDKN2B	LRP1	AKT1	KRAS	PRKCD	KCNH1	COL4A6	SOS1	PDE8B	RASGRP1	NF1	TSC2	SPRED1	MLH1	ANTXR2	CDKN1A	BAP1	PRLR	REST	FAM20C	SMARCE1	TSC1	MSH6	NF2	CDKN1B	FLNA	RSPRY1	CASP10	PLCD1	COL4A5	TRAF7	NOTCH3	SMO	KLLN	BMPR1A	PTCH2	DHCR24	ELMO2	SDHC	PRKAR1A	SDHD	PDE11A	PDGFRB	FAS	NRAS	MSH2	PTEN	CREB1	PTCH1	SPTBN1	SMARCB1	KCNN3	PRKACA	PIK3CA	CTNNB1	IFNG	SDHB	TERT	CDKN2C	PDGFB	KRT17	ATP6V1B2	MTAP	USF3	GREM1
HP_MYELOID_LEUKEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYELOID_LEUKEMIA	MAP2K1	SRSF2	SAMD9L	SETBP1	DNMT3A	F13A1	ASXL1	TERT	KRAS	TERC	GATA2	IDH1	BRAF	NRAS	PTPN11	F13B	TET2	NF1	KIT	CBL	ARHGAP26
HP_PYELONEPHRITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PYELONEPHRITIS	MYH11	GANAB	ELN	PKD2	BICC1	XDH	HOXA13	EFEMP2	KCTD1	FBLN5	SHANK3	ALDH18A1	BNC2	CFI	LTBP1	ALG9	DNAJB11	MED12	PKD1
HP_ABNORMAL_AUTONOMIC_NERVOUS_SYSTEM_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_AUTONOMIC_NERVOUS_SYSTEM_PHYSIOLOGY	ATXN8OS	TNPO3	NOS1AP	FBXO7	HEXB	LIFR	SNCA	PRKN	DBH	PRNP	TSPYL1	CHCHD2	CISD2	LEPR	MT-TT	PARK7	KCNQ1	COQ2	LGI1	TBX5	GLUD2	SCN9A	CALM1	ERBB3	PINK1	SCN3A	WDR45	SIM1	TBP	VPS13C	GABBR2	DEPDC5	GSN	MMEL1	ASCL1	TRDN	WFS1	CYP11B2	COL1A1	TTR	SCN4B	GMPPA	GLA	SCN10A	SCN11A	IRF5	CHRNA3	GBA	SPIB	CCT5	IL12A	LRRK2	KCNE2	SLC18A2	PHOX2B	SNCAIP	LMNB1	DNAJC13	NTRK1	COL5A2	ACOX1	KCNE1	SLC6A2	PLA2G6	BRAT1	RELN	VPS13A	NR4A2	KIF1B	ATXN2	IL12RB1	CAV1	TXN2	ADH1C	ARSA	ATP1A2	GIGYF2	HTRA2	ECE1	CALM2	LEP	ELP1	AKAP9	B2M	GBE1	VPS11	ATP1A3	SPG11	RET	TUBB3	EIF4G1	VPS35	TCF4	SYNJ1	ZFHX4	CACNA1A	TNFSF15	SLC1A3	CALM3	MECP2	COL5A1	SCN5A	DNAJC6	MAPT	PODXL	AAAS	POLR3A	PSAP	ATXN3	GNB2	KCNJ5	UCHL1	COL25A1	KCNH2	CAV3	FMR1	ANK2	SOX10	RFC1	CYB561	CACNA1C	POU2AF1	ATP7A	SNTA1	PPOX
HP_EXTRAHEPATIC_CHOLESTASIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXTRAHEPATIC_CHOLESTASIS	PALB2	CDKN2A	KRAS	BRCA2	PALLD	CDKN1B	SMAD4	RABL3	TP53	BRCA1
HP_ABNORMALITY_OF_FOLATE_METABOLISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FOLATE_METABOLISM	AMN	CUBN	OTUD5	HLA-DQA1	ZNF699	FTCD	SPTBN1	HLA-DQB1
HP_ABNORMAL_ENERGY_EXPENDITURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ENERGY_EXPENDITURE	GHRL	ENPP1	POMC	NR0B2	AGRP	UCP3	CARTPT	ADRB2	ADRB3	SDC3	PPARG	NGLY1
HP_ABNORMAL_GLYCOSYLATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GLYCOSYLATION	DPM3	CAD	SLC35A2	MPDU1	ALG3	COG2	SRD5A3	MGAT2	ALG8	DPM2	STT3A	PGM1	ATP6V1A	COG1	MPI	ATP6V1E1	SLC39A8	DOLK	COG6	ALG6	DDOST	COG5	ATP6V0A2	MAGT1	COG8	SSR4	PMM2	ALG11	COG4	MAN1B1	ALG1	FKTN	DPM1	TMEM199	ATP6AP2	CCDC115	SLC37A4	ALG13	RFT1	B4GALT1	GALNT2	EDEM3	STT3B	DPAGT1	ALG2	ATP6AP1	COG7
HP_ABNORMAL_PROTEIN_GLYCOSYLATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PROTEIN_GLYCOSYLATION	DPM3	SLC35A2	MPDU1	ALG3	SRD5A3	MGAT2	ALG8	DPM2	PGM1	ATP6V1A	COG1	MPI	ATP6V1E1	SLC39A8	DOLK	COG6	ALG6	DDOST	COG5	ATP6V0A2	MAGT1	COG8	SSR4	PMM2	ALG11	COG4	MAN1B1	ALG1	DPM1	TMEM199	ATP6AP2	SLC37A4	ALG13	RFT1	B4GALT1	GALNT2	EDEM3	DPAGT1	ALG2	ATP6AP1	COG7
HP_ABNORMAL_PROTEIN_O_LINKED_GLYCOSYLATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PROTEIN_O_LINKED_GLYCOSYLATION	SLC35A2	COG4	TMEM199	DPM3	SLC37A4	GALNT2	DPM2	ATP6AP1
HP_FLAT_FACE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLAT_FACE	SMC3	MYH3	KAT5	MAF	PEX1	KIAA0753	GAD1	RAD21	CAMK2G	FLNB	ROR2	FAT4	PEX11B	COL2A1	FGFR3	SUMF1	PEX12	ZBTB24	PEX3	HSPG2	PAX3	DNMT3B	PEX10	LONP1	MATN3	KMT2A	PEX13	GPC6	B3GAT3	ADAMTS3	PEX5	TBX22	SLC26A2	PEX26	XYLT1	CREBBP	PEX7	CDH1	TUBB	AMER1	COL11A2	COL9A2	PRMT7	DCPS	TWIST1	HELLS	COL3A1	BRPF1	CDCA7	MAN2B1	CTNND1	EBP	CDH11	FGFR2	CCBE1	TMEM70	BPNT2	CHST3	B3GALT6	EHMT1	PEX14	COL11A1	B4GALT7	COL9A1	PLOD3	SOX9	EP300	ATRX	LOXL3	GUSB	DVL1	TAPT1	PPP2R3C	SLC39A8	PEX2	PEX6	PEX19	SMARCA2	FN1	KIF22	ATP6V0A2	FLNA	PDE4D	MAPRE2	PAK3	GATA1	MN1	WNT5A	TRIP11	PPP1R12A	TMCO1	COL9A3	PEX16	AMMECR1	GNPTAB
HP_ABNORMALITY_OF_MALAR_BONES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_MALAR_BONES	CANT1	FAM50A	SMAD4	COMT	MLXIPL	FLNB	COL2A1	ROR2	ESCO2	TAT	AMMECR1	HBB	PEX12	APC	LARP7	ZNHIT3	SIX3	YY1	NSMCE2	NECTIN1	PYCR2	PRKAR1A	COL11A2	TFAP2A	POLR1C	TBX22	TBX1	MAN1B1	LIFR	PEX7	USB1	FGFR3	CTDP1	LMNA	NF1	XRCC4	KCNH1	RSPRY1	FGFR2	HSPG2	HDAC4	DDR2	NSDHL	BMP2	ARVCF	OBSL1	TGFBR2	CHD7	GORAB	LRP2	UFD1	NGF	BBS7	CRKL	COG4	CCBE1	CILK1	FOXP1	SMAD3	TBX4	TP63	PIGT	SEMA3E	EHMT1	LRPPRC	NONO	DHODH	TBL1XR1	NOTCH3	TFAP2B	HIRA	POR	POLR1D	ACSL4	ATP6V1A	SF3B4	SHANK3	POU1F1	FOXC1	B3GALT6	NDP	COL5A1	MECP2	SLC6A8	TGFBR1	TONSL	SP7	ACAN	FAM20C	NPR3	RAI1	RPS26	COL11A1	POLR3A	PTH1R	FLNA	CUL7	HERC1	SOST	PDE4D	ATRX	AGL	TMEM165	GSC	PIGV	POGZ	MAPK1	LAS1L	GATA1	RAB3GAP1	SEC24C	PSMC3	RAB3GAP2	FGFR1	FAT4	SNRPB	COL9A3	LTBP4	PRMT7	HBA1	MYH3	STAG2	FBN1	RUNX2	DCHS1	SLC35D1	EFTUD2	NFIX	ERF	MAN2B1	PQBP1	AIFM1	INPPL1	GPC6	RDH11	BUB1B	MGP	KIF22	CNOT3	SLC26A2	PAX3	SETD2	ZBTB20	ELN	COL9A2	BMP4	SCARF2	HBA2	TWIST1	RAB23	GLI2	SHH	TGDS	BLM	EBP	POLR1B	POLE	LBR	SATB2	ARID1B	SLC2A10	TCOF1	JMJD1C	HDAC8	BCR	PCGF2	RHOA	COL9A1	SEC23A	PLOD3	POMGNT1	MAF	COL1A1	LOXL3	NBN	DVL1	KIF1A	ATP6V1E1	PEX1	PIK3R1	ASXL3	TFE3	ATP6V0A2	PIGU	NTRK1	PIGA	CDH11	SETBP1	PYCR1	KIF7	MED12	RLIM	UBE2A	DLG3	ADAMTSL4	GRIA3	FZD2	RREB1	DNMT3B	KCNE5	GP1BB	WNT5A	TMEM237	RBM8A	BGN	LRP4	RNU4ATAC	SERPINH1	KCNJ2	MBD5
HP_HEMIANOPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMIANOPIA	ARSG	MT-TW	MT-TF	AKT3	CIB2	MT-CO2	PIK3CA	CTNNB1	BRAF	MT-TL1	TUBB2B	MT-ND5	MT-TV	MT-TC	WHRN	SMARCB1	MT-ND6	AMACR	AIP	MT-TS2	GNAQ	MT-CO3	BAP1	USH1G	CDH23	SUFU	ESPN	SETD5	MYO7A	MEN1	SMARCE1	MT-CO1	NF2	HARS1	CLRN1	MT-TQ	PCDH15	TRAF7	USH2A	MT-TK	TERT	PDGFB	SMO	GPR101	MT-ND1	TREX1	USH1C	ADGRV1	PDZD7	MT-CYB	CEP78	AKT1
HP_FATIGUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FATIGUE	TNPO3	IL12A-AS1	IL12A	SLC25A4	YY1	OPA1	TRHR	CFH	TXNRD2	TBX20	DNM1L	SDHA	CTLA4	MMADHC	SLC25A11	PTPN3	SH2B3	NPPA	TSHR	TCF3	TCF4	ELANE	NKX2-5	IGKC	HLA-B	ATM	C1QBP	GCK	ERAP1	TAFAZZIN	TWNK	MT-TK	CAV3	HELLPAR	DNMT3A	NFKB2	DLST	MEN1	PYGL	TET2	ATP13A2	TRAF3	PHKB	NABP1	ALB	COL1A2	KCNQ1	FOXE1	POLG	HESX1	SLC18A2	FTL	MLX	COL5A2	STAT4	SMAD3	ATP7A	BCR	PHKG2	SYNJ1	AGK	ITGA7	LRRC8A	IL12RB1	IGHM	NLRP3	UNC93B1	SLC18A3	RPS20	SCN5A	FGFR1	NFKBIL1	HLA-DPA1	SPTBN1	TBK1	KCNE1	OTX2	COL9A3	BIRC3	FGF23	GATA4	EPCAM	DCTN1	CTNNB1	POLG2	KIF1B	NKX2-1	MAP3K20	POU1F1	PROKR2	IGLL1	ACTA1	CIITA	HMGCL	TLR3	JAK2	UBA1	GATA2	SVIL	POU2AF1	VHL	HBA1	MYD88	MATR3	BCL6	PTPN22	ARNT2	PREPL	ACADM	BCOR	PLEC	PSAP	BCL2	POMGNT1	IL21	MLH3	TLR4	SDHAF2	PON1	AP2S1	COL9A1	SOD1	TGFBR2	RABL3	LHX4	HLA-DRB1	ATXN2	CDC73	HAVCR2	MSH2	NLRC4	CD46	PML	KRAS	COL1A1	TPM2	GRM1	PON3	CALR	KL	IRF5	ERCC5	SPIB	RET	NR3C1	ATRX	CDH23	IGHG2	NEK1	TBX19	IL12B	PODXL	ACTC1	SDHB	SLC2A10	TFR2	STAT6	BRCA1	PPARGC1A	ABCD1	CHCHD10	IFNGR1	SLC3A1	CCND1	ABL1	C4A	BRCA2	C9orf72	SRSF2	SLC26A4	PRTN3	CCDC78	HACD1	BMPR1A	CHRND	AIP	SLC2A9	SCNN1B	ANXA11	FAN1	HLA-DPB1	CCNF	SDHC	BTK	ANG	NPM1	FIP1L1	IL23R	TMEM127	INSR	GLA	VAPB	IVNS1ABP	SDHD	ERBB4	ASXL1	UBQLN2	IL18BP	POLR3GL	NF1	PRPH	ABCC2	IRF4	STAT3	DNAJC6	SLC4A1	PLEKHM1	RRM2B	TSHB	TREM2	CD79A	TICAM1	LBR	SLC22A12	SLC40A1	BTNL2	OPTN	KIF23	BLNK	STAR	MMEL1	PIEZO1	PROP1	GCH1	PSTPIP1	STAT5B	CHMP2B	TSC1	FOXP1	GLE1	FIG4	STEAP3	MLH1	IL10	CFI	KPNA3	MPL	TPM3	FOXA2	WAS	TNXB	UBAC2	PIGT	PALB2	PFN1	COL9A2	LRIF1	XPA	SERPINA6	MDM4	SLC25A26	MEFV	LHX3	PRKAR1A	CPT1A	SMAD4	PGM1	NNT	PDGFRA	SCN4A	PAX8	ARMC5	SEMA4A	TP53	SOX3	MDH2	TSC2	PALLD	EPHA4	P4HA2	SCNN1A	PHKA2	CITED2	SLC34A2	CD244	CCR1	SCNN1G	MYL2	PMS2	DAO	TLL1	ERCC4	SLC12A3	NAB2	PIK3CA	EPOR	ALDH4A1	XPC	ZBTB16	CD79B	CARMIL2	ALAS2	GIMAP5	CFAP410	RUNX1	PIK3R1	SOX2	MET	VCP	DDB2	TAF15	IKZF1	RARA	SEMA4D	NAGS	EIF2AK4	MORC2	COMP	GLT8D1	PMS1	KCNN4	CDKN2A	HBA2	DYSF	COQ2	WIPF1	HNRNPA1	PON2	MRAP	PYGM	MYH6	GPR101	SELENON	FUS	NUMA1	GLI2	CBL	PNPLA8	DMD	MSH6	SLC22A4	GATA6	GPR35	HEPHL1	ERCC3	GBA	MST1	MAX	SLC11A1	RYR1	TBL1XR1	NEFH	FH	KIT	DBH	MYH7	TNFSF15	KLRC4	COL5A1	IRF2BP2	HFE	TK2	UNC13A	SQSTM1	ERCC2	MC2R	EPAS1	HNF4A	FAS	BCL10	UNC45B	TARDBP	MALT1
HP_ABNORMAL_ENZYME_COENZYME_ACTIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ENZYME_COENZYME_ACTIVITY	HSD17B10	TNPO3	PKLR	CYP7B1	OFD1	TRAPPC11	MPV17	CTSA	B3GALNT2	CFH	GATA1	DPM1	DPM2	FAH	MT-ND3	TCIRG1	YARS2	CP	CTNS	HSPG2	ARSL	PDE8B	DAG1	PRPS1	SUCLG1	PEX19	TCF4	PIGW	MED12	TGFB1	RPL18	DZIP1L	SLCO1B1	MTHFR	TTC26	COX5A	ATP8B1	C1QBP	USB1	GNPTG	GALK1	TWNK	ATRX	HELLPAR	SPP1	GSS	BCR	SI	IL12A	PYGL	CFAP418	PHKB	DLD	DMP1	COLQ	MPI	MARS1	PCCB	GALT	DEF6	POLG	PRF1	ACADVL	TREX1	ADK	VCP	RNASEH2C	PAH	IFIH1	PHKG2	RNU7-1	NADK2	DPYS	MTR	HSD3B7	CA2	BCHE	IL12RB1	ABCD3	SBDS	GDF2	SRD5A3	PLEC	OGDH	WDR35	CALR	ALG3	GALC	KY	RPL27	PRSS1	TKFC	SPTBN1	CHEK2	COL4A1	AMACR	ALMS1	FAM20C	SLC34A3	RPL35A	PHKA2	MTRR	RPS10	GALM	TNFRSF11A	PMM2	RPS26	FGF23	POMGNT2	PRKACA	SLC25A4	POLD1	SUOX	BTD	HNF1B	KHK	POLG2	AGL	PIGV	RPS15A	GLB1	JAG1	CSPP1	CYP3A4	FLI1	ABCB4	ESR1	RHAG	DNAJC21	TRMT10C	TANGO2	NPC2	MT-TW	GNPTAB	CPT2	HMGCL	AKR1D1	CPA1	APRT	SLCO1B3	NOS3	RPS29	HADH	POU2AF1	FADD	DCDC2	SP110	DHDDS	PKHD1	MT-ND1	RAG1	PLOD1	IDS	HEXB	SLC22A5	RPL15	CAT	MRPL3	ACADM	HADHB	VPS33B	ENPP1	MYC	COG2	SPINK1	IFT172	MYH9	ADAR	SEC23B	NR1H4	SIL1	FBP1	ALAS2	RABL3	LIPT1	MICOS13	NGLY1	HLA-DRB1	FARSB	LCT	TREH	COG8	CYC1	CYBB	CORIN	TET2	CD46	PNPLA2	SIK3	PRDX1	SLC25A13	BICRA	SLC2A2	GLRX5	CLPB	PIGB	GCDH	MS4A1	SLC30A10	CR2	FLT1	IRF5	SRP54	SPIB	HFE	PGAP2	MT-TK	OTUD5	CPT1A	ICOS	RPS19	FARSA	B4GALT1	RRM2B	MICU1	PHEX	ABHD5	CYP2R1	USP18	FH	ANO10	ABCB11	ALDH2	NFS1	LRPPRC	POMK	ALG6	FOXP3	ATP6AP1	STAT4	SLC34A1	TFR2	MRPS28	DPM3	STX11	PRKAR1A	SLC39A4	VPS13A	BMP2	RPGRIP1L	CEBPE	RPS24	UROD	TFAM	SLC19A1	AASS	PLA2G7	PCCA	RHD	MMAA	CRPPA	ADA2	SRSF2	BRCA2	COG6	LYST	PTH1R	LDHA	HAMP	COG5	MMAB	ERCC8	GATA2	KIT	SECISBP2	ADA	MT-ND6	POMT2	NSMCE2	MTTP	IARS1	ZNFX1	USP53	PIGO	ACOX1	UNC13D	SLC51B	ERCC6	NBAS	ATP6AP2	PIGQ	DAXX	PRKCD	COG4	UQCRC2	F5	BCS1L	RNASEH2A	ASXL1	IL18BP	PIGK	PPOX	SAR1B	EFL1	RINT1	PLEKHM1	TMEM67	LBR	GPD1	ASL	ABCD4	PGAP3	ASPA	ALG8	CD19	SLC4A1	G6PC1	ASAH1	ABCC6	DMGDH	SERPINA1	DDOST	TNFRSF13B	PSAP	MMADHC	KIF23	CC2D2A	MMEL1	HADHA	PIEZO1	PSMB8	RPS17	RPS7	LIG3	SLC51A	GNE	UMPS	RXYLT1	HSD17B4	IER3IP1	ALG12	RPS28	HNRNPA2B1	INPP5E	GBA	ALDOB	PEX13	TMEM199	COX16	RPL35	HJV	SLC25A20	STEAP3	DLAT	SGMS2	EIF2AK3	OCRL	TP53	BRCA1	CYP27A1	CFI	PIGL	ELMO2	RPL5	SMPD1	CBS	OPLAH	PRKCSH	LARGE1	TNFSF12	IRAK1	VDR	DPAGT1	MT-CO3	MCCC2	MPL	DOLK	RPS27	CNOT1	PLA2G6	PIGT	PALB2	POMT1	GAA	RNASEH2B	SC5D	HLA-DQA1	LAMB2	FKTN	SLC37A4	CLCN7	NFKB1	ALPL	BSCL2	SMAD4	PITRM1	RPS20	VIPAS39	PGM1	AGPAT2	ALAD	PEX16	LIPA	PRSS2	PIGS	HNRNPA1	STOX1	NPR3	HLA-B	PSMB4	FAN1	FXN	SDHD	PALLD	MRPL44	MGAT2	TMEM165	TNFRSF11B	TRMU	TYMP	CDAN1	CASR	ACAD9	PEPD	ERCC4	LARS1	ALDH4A1	TRPV6	ZNF687	PIGA	GIMAP5	SAMHD1	CYBA	MT-TL1	MCM6	RUNX1	LRRK1	DPYD	MVK	HMBS	CYP27B1	RAG2	FBXL4	GPHN	NFKB2	IKZF1	KIAA0586	CCDC47	LMBRD1	CAVIN1	SEMA4D	SQSTM1	DGUOK	MMACHC	FKBP10	RB1	RBCK1	SCO1	OCLN	ALDOA	FKRP	KCNN4	PSMB9	GYS2	PIGY	CDKN2A	AHCY	ATM	POMGNT1	RPL11	HMOX1	ACSF3	MAN2B1	LHX1	NCF2	INPP5K	BAAT	CD81	JAK2	RPL26	NCF1	MT-TV	MT-ATP6	MPDU1	PDE11A	MTX2	CBL	GPI	DMD	ATP7B	MT-ND2	WARS2	GPR35	RHCE	GFM2	TNFRSF13C	CFTR	RPS14	NPC1	CTRC	XDH	MT-ND4	MST1	LPIN1	MRPS16	B4GAT1	SLC35A2	MT-CO1	MOCS2	TNFSF15	STXBP2	HLA-DQB1	SLC25A15	RPL31	ALG11	HBB	GNMT	ALDH5A1	CCDC115	FTCD	MT-ND5	TSR2	COG7	KRAS	SOST	SLC7A7	HNF4A	MOCS1	GLYCTK	ALG2	KIF12	DNAJC19	ABL1	BCAT2
HP_LEFT_TO_RIGHT_SHUNT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEFT_TO_RIGHT_SHUNT	TTC26	TBX20	THOC6	GATA4	CITED2	MYH6	ACTC1	TLL1	GATA6	NKX2-5
HP_RHINITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RHINITIS	HYDIN	ZMYND10	DRC1	CCDC40	GFI1	DNAH5	DNAH9	STK36	DNAAF5	ODAD2	DNAAF11	DNAAF2	SPAG1	ODAD1	DNAL1	GAS8	TTC12	CCDC39	CCNO	IL4R	CFAP298	FOXJ1	IGKC	PGM3	SIK3	SLC27A4	DNAAF4	ALG12	DNAI2	ODAD4	LRRC56	RPGR	RSPH4A	RFX5	RFXANK	IDUA	RSPH1	DNAAF3	RAG2	CCDC65	PLA2G7	DNAI1	OFD1	IGHG2	BLM	PLCG2	RFXAP	SPEF2	DNAH1	ZNF699	SPINK5	RAG1	CIITA	SNX10	KRT74	EDA	RSPH3	MCIDAS	RSPH9	TCIRG1	GAS2L2	CCDC103	CFAP300	CLCN7	CDSN	ELANE	DBH	MS4A2	SRP54	SLC29A3	DNAAF1	NEK10	TNFSF11	ODAD3	DNAJB13	DNAH11	COX4I2	NME8	CFAP221	CARMIL2	EDARADD	DNAAF6
HP_BRONCHITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRONCHITIS	DNAAF1	RSPH4A	IL2RG	ICOS	NFKB1	NBN	CD19	CACNA1C	CCDC39	TNFRSF13C	DNAAF11	DNAAF5	NFKB2	ODAD2	FCHO1	SERPINA1	GAS8	MAGT1	SMARCA2	TNFRSF13B	SPAG1	ZBTB24	SCNN1G	CRLF1	ALMS1	TAP1	GNPTAB	HLA-DQB1	GUSB	CR2	CD79B	IGKC	MGP	CCDC40	CFTR	SCNN1B	SLC34A2	MS4A1	NOS1	HYDIN	SCNN1A	EGFR	ZMYND10	PRKCD	DNAI1	RAC2	IGHG2	BLM	DNMT3B	TAPBP	TAP2	ODAD3	TNFSF12	CFAP298	RNF168	IL17RA	CD81	RPGR	CCDC65	ATM	HLA-DQA1	CD79A	CARMIL2	DNAJB13	SYK
HP_APPENDICULAR_HYPOTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APPENDICULAR_HYPOTONIA	GEMIN5	PRPS1	GBA	NRROS	UNC80	GNPTAB
HP_ANAL_FISSURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANAL_FISSURE	EGFR	COL7A1	CYBC1	MMP1	ADAM17
HP_HYPOREFLEXIA_OF_UPPER_LIMBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOREFLEXIA_OF_UPPER_LIMBS	ACOX1	RUBCN	ATP6AP2	PMP22	ST3GAL5	RYR1	GDAP1	MT-TE
HP_ALLERGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALLERGY	IGKC	PGM3	SIK3	SLC27A4	KRT74	TGM5	CCDC28B	MTOR	ADA	CSTA	ARL6	FOXP1	FOXP3	IL6ST	PLA2G7	IGHG2	PLCG2	CDSN	SPTBN1	JAK1	COX4I2	RBM8A	SOX6	MS4A2	CTLA4	BBS1	CARMIL2	IPO8	PSTPIP1	IL4R	CHD1	SPINK5
HP_AORTIC_ATHEROSCLEROTIC_LESION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AORTIC_ATHEROSCLEROTIC_LESION	LDLRAP1	PCSK9	ABCG8	LMNA	APOE	APOB	LDLR	ABCG5	CYP7A1
HP_PERIPHERAL_EDEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_EDEMA	FSHR	FLNC	TLL1	TNNT2	KIF20A	TNNI3	MYPN	ZNHIT3	SLC34A2	KIF1A
HP_ABNORMAL_ALDOLASE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ALDOLASE_LEVEL	POMGNT2	POMT1	SIL1	FKRP	HSPG2	INPP5K	LPIN1	LARGE1	FKTN	DAG1	B3GALNT2	B4GAT1	COL4A1	MT-CO3	POMK	MT-CO1	TGFB1	CRPPA	ALDOA	ALDOB	RXYLT1	POMT2	POMGNT1
HP_ABNORMAL_URINE_ALPHA_KETOGLUTARATE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_ALPHA_KETOGLUTARATE_CONCENTRATION	DLD	TBC1D24	COX16	OGDH	AASS	SDHB	PIGB	ATP6V1B2	ALDH4A1	GLUD1
HP_INCREASED_URINE_ALPHA_KETOGLUTARATE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_URINE_ALPHA_KETOGLUTARATE_CONCENTRATION	DLD	TBC1D24	COX16	SDHB	PIGB	ATP6V1B2	ALDH4A1	GLUD1
HP_MEDULLARY_NEPHROCALCINOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEDULLARY_NEPHROCALCINOSIS	TTC26	ENPP1	ABCC6	FGF23	TOR1A	SLC34A3	SLC34A1	MAGED2	ADAT3
HP_PURE_RED_CELL_APLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PURE_RED_CELL_APLASIA	RPL31	RPL15	RPS28	RPS24	GATA1	RPS15A	RPL35	RPS29	RPS20	TSR2	ADA2	RPL11	RPL5	RPS19	RPL27	PNP	RPL26	TP53	RPS27	RPL35A	RPS10	RPL18	RPS17	RPS7	EPO	RPS26
HP_PREMATURE_PUBARCHE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_PUBARCHE	MEN1	SNRPN	PAPSS2	MAGEL2	SIM1	NDN	HSD3B2	HSD11B1	OCA2	MKRN3	CYP11B1	TANGO2	AIP
HP_PREMATURE_ADRENARCHE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_ADRENARCHE	SNRPN	USP7	MAGEL2	SIM1	NDN	OCA2	CYP11B1	HSD3B2
HP_ABNORMAL_BLOOD_GAS_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_GAS_LEVEL	ZFPM2	SELENON	TPM2	ENG	ITGA7	CSF2RA	SLC34A2	EIF2AK4	GATA6	MYL2	HBB	RHAG	SMPD1	CSF2RB	LONP1	MAP3K20	RHD	FGFR3	RHCE	SFTPC	BTNL2	RYR1	TPM3	SLC35A1	MARS1	HACD1	PHOX2B	ACTA1	FBN1	HLA-DRB1	CACNA1S	PTRH2	NKX2-1	ABCA3	LRP12	CNOT1	SFTPB
HP_MECONIUM_STAINED_AMNIOTIC_FLUID	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MECONIUM_STAINED_AMNIOTIC_FLUID	NR1H4	ABCB11	ABCB4	ATP8B1	PLPBP	ALDH7A1	SLC13A5
HP_OPTIC_DISC_DRUSEN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPTIC_DISC_DRUSEN	XYLT1	TMEM98	LRAT	RPE65	LCA5	IFT172	XYLT2	MFRP	SPATA7	ABCC6
HP_PROMINENT_CALCANEUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_CALCANEUS	DLK1	RTL1	CCDC8	OBSL1	RSPRY1	MEG3	GFM2	SATB2	DYM
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	NARS1	MT-ND6	ZEB2	PSAT1	MT-CO2	MT-TH	NACC1	TMX2	WARS2	MT-TL1	MT-CO1	MT-TF	SLC2A1	MT-ND1	MT-ND4	FDXR	STRADA	MT-ND5	KDM1A	MT-TS2	MT-TQ	MT-TW	MT-CO3
HP_CEREBRAL_WHITE_MATTER_HYPOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_WHITE_MATTER_HYPOPLASIA	KDM1A	SLC2A1	ZEB2	NARS1	TMX2	WARS2	PSAT1	FDXR	STRADA	NACC1
HP_CHRONIC_FATIGUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_FATIGUE	PALB2	MC2R	KRAS	BRCA2	PALLD	TK2	RABL3	MDM4	IVNS1ABP	ALDH4A1	NLRP3	CDKN2A	MRAP	STAR	PSAP	SMAD3	TXNRD2	SMAD4	TP53	BRCA1	EIF2AK4	NNT
HP_ABNORMAL_SOCIAL_BEHAVIOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SOCIAL_BEHAVIOR	ITPR1	SETBP1	NDUFB3	MLXIPL	NDUFA1	PSEN2	NDUFAF4	SLC2A1	NDUFB9	NALCN	FLCN	NDUFAF5	CDKL5	DLK1	TRIM8	TBR1	LCA5	KANSL1	SNRPN	FRMPD4	ABCA7	PARK7	AP4B1	NDUFV1	GTF2I	NLGN4X	GABRG2	NCF1	PUS3	FOXRED1	PINK1	CHD2	MT-ND3	RAB11B	LIMK1	LRAT	EIF4H	ERCC3	AP2M1	FMR1	PUF60	MPLKIP	UGP2	NDUFS6	NDUFAF1	GTF2E2	MECP2	RPE65	NEXMIF	ST3GAL3	NDUFAF2	CREBBP	NDUFAF8	DOCK7	FOXP2	NDUFAF3	APP	DOLK	NDUFS1	CNTNAP2	C12orf4	AP3B2	MT-ND2	DEAF1	NONO	PSAP	SMC1A	TSC1	PSEN1	JRK	NDUFS8	UBA5	IREB2	NTNG1	SHANK3	CACNA1H	BCL7B	SMG9	SLC25A1	TET3	SYNGAP1	AP4S1	TOMM40	SPTBN1	TUBB3	NDUFS2	TBC1D23	NDUFB10	NF1	GABRB3	EBP	DNAJC6	HERC1	MED12	NLGN3	GTF2H5	PODXL	RTL1	TARS1	POLA1	GABRA1	TMEM126B	AP4E1	CUX2	MEF2C	IQSEC2	TIMMDC1	METTL27	TBL2	GALNT2	ERCC2	SORL1	LRRK2	PIGP	SPEN	ABCC8	ADNP	PRKN	GABRA2	MEG3	NDUFS3	NDUFA13	OPHN1	DPYD	ELN	ALG13	GPHN	NDUFB11	TMEM270	APC2	SLC6A1	RFC2	MICOS13	KCNT1	ARFGEF2	ARSA	VPS13C	SYT1	GNB5	NDUFS4	SETD2	NDUFS7	FKBP6	STX1A	CDC40	SPATA5	BAZ1B	TSC2	SPATA7	RNF113A	CLP1	PCDH19	NTRK2	BUD23	SLC25A12	DNAJC30	NLGN1	MFF	GTF2IRD2	GFM1	PIGH	MED13L	TWNK	SH2B1	HTRA2	VPS37D	GFM2	EP300	SLC6A8	RARS1	CACNA2D2	NDUFA11	SMARCA2	SCN1A	SYNJ1	ADSL	SNCA	AGTPBP1	ALG11	NDUFV2	FOXG1	NDUFA6	GRIN1	ACOX1	PPIL1	RLIM	AP4M1	NEUROD2	UCHL1	MT-ND1	GRIA3	CAMTA1	COX10	GABBR2	CLIP2	NDUFC2	EXTL3	GTF2IRD1	TREM2	COG6	NUBPL
HP_DELAYED_SOCIAL_DEVELOPMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_SOCIAL_DEVELOPMENT	FOXP2	ITPR1	LRAT	COG6	CDC40	APC2	RPE65	LCA5	ABCC8	SPATA7	PPIL1	TUBB3
HP_ABNORMAL_GALLBLADDER_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GALLBLADDER_MORPHOLOGY	AIRE	DMPK	MLXIPL	COMT	ASXL1	UQCRFS1	HBB	GATA6	BLVRA	EPB42	SMPD1	GBA	SPECC1L	SLC4A1	PKLR	SEC23B	PFKM	VPS4A	ELN	CCDC47	TMEM270	GTF2I	TBX1	NCF1	ALAS2	RFC2	BPGM	SEMA4D	LIMK1	EIF4H	PEX19	CYP27A1	TCF4	GYPC	PIEZO1	GNE	INTU	KDM5C	KCNN4	FKBP6	SCNN1A	STX1A	TPI1	ALDOA	GDF2	ABCB11	BAZ1B	SCNN1G	ATP8B1	SON	UROS	ARVCF	ANK1	BUD23	UFD1	SPTA1	DNAJC30	SMAD4	SPTB	CNOT1	ABCB4	JMJD1C	RFX6	GTF2IRD2	SC5D	HIRA	GPI	ARSA	VPS37D	GPR35	CYP7A1	BCL7B	MST1	AMACR	FOXF1	TFE3	ACVRL1	SCNN1B	FECH	MED25	PSAP	PKHD1	ABCG8	B3GLCT	HK1	ENG	SEC24C	RREB1	METTL27	GCGR	TBL2	CLIP2	GP1BB	GTF2IRD1	EPB41
HP_ABNORMAL_MYELINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MYELINATION	RERE	SACS	SLC12A5	PMP22	SELENOI	MPV17	ALS2	FLCN	NDUFA13	DPM1	FRMPD4	INF2	TAF2	MT-ND3	KIDINS220	NDUFV1	LMNA	ERCC3	SUMF1	L2HGDH	TBCD	SCN2A	GPT2	MTMR2	SCN3A	MAPK8IP3	RAB11B	KDM1A	YY1	PRPS1	PYCR2	PEX19	NTRK2	AHDC1	PAK1	PIGW	SZT2	EXOSC5	NDUFA10	MORC2	TTC26	NEFL	SBF1	MPLKIP	PHGDH	GRIK2	NDUFS2	LIAS	MT-TH	ISCA2	POLR3A	NDUFS6	FOXRED1	ERCC5	SURF1	UBE3A	RNF13	BRPF1	MT-CO1	NDUFAF1	GTF2E2	MT-ND1	NGF	POLR1C	MADD	NADK2	PRF1	SHPK	FA2H	ARNT2	NDUFAF3	RNASEH2C	POLR3B	GDAP1	NACC1	YWHAG	PLP1	NDUFS1	GLYCTK	GNAO1	IFIH1	SBF2	RNU7-1	ARV1	JPH1	LRPPRC	PSAP	DHH	GLRX5	GMNN	SH3TC2	TPRKB	RHOBTB2	TXN2	EIF2AK2	OSTM1	NDUFS8	SLC1A4	AIMP2	GLS	POU3F3	ZNF335	ATP1A2	SHANK3	APTX	PPP2R1A	DARS2	SLC33A1	MT-TF	GCDH	NDUFS4	SMG9	CACNA1A	TRAPPC2L	TBCE	KCNB1	KIF1A	CLCN3	TRNT1	VPS11	NCDN	AFG3L2	PET100	TKFC	IBA57	FANCB	SPTBN1	DNMT1	DHX37	SYNJ1	DDX6	MDH2	ITPA	MMACHC	FUS	NDRG1	TRAPPC11	GJC2	NDUFB10	WDR26	TUBB4A	D2HGDH	RMND1	FIG4	HACE1	MTRFR	COPB2	UBA5	KCNA1	MTHFS	MT-CO2	SLC2A1	TARS1	PIGV	POGZ	GABRA5	RAB3GAP2	MTTP	DEGS1	TRMT5	ARID1B	RAB7A	GTPBP3	PIGN	ATP7B	MT-TL1	DALRD3	TIMMDC1	TMEM63A	ALDH6A1	GABRB2	MT-TW	TAF13	GNB4	ZFYVE26	STAMBP	NKX6-2	GRIN2D	FGD4	ALG9	HK1	PRMT7	FCSK	ACTL6B	SP110	PKDCC	EIF2B1	EIF2B4	SAMHD1	HEXB	GBF1	ADAT3	SPTLC1	ASXL1	DHFR	ADGRG1	SIGMAR1	BAG3	GABRA2	ABCA1	PLAA	COX14	NDUFV2	PRX	POLR2A	ADAR	NDUFA4	NDUFAF4	TRRAP	WNK1	PTEN	SLC1A2	LIPT2	EEF1A2	MAN2B1	FLRT1	ERCC8	LIPT1	DNM2	COX7B	KCNA2	DHX30	NGLY1	ARSA	AARS1	TMTC3	SNORD118	SYT1	NDUFA9	TREM2	EIF2B5	ACY1	OCA2	NDUFS7	NDUFAF2	SOX10	CSF1R	ISCA1	SMPD4	SLC30A10	BMP4	CLDN11	CDK19	CDC40	PGAP2	SPATA5	MT-TK	PDCD1	SNIP1	HARS1	ERCC6	RRM2B	DMXL2	SIK1	CNTNAP1	PPP3CA	NDUFA12	PMM2	GRM7	CTDP1	KCNJ10	BRAT1	NR2F1	HSPB8	ADARB1	PNKP	MARS1	VPS13A	GALC	ABCD1	GFM1	CYFIP2	CASK	RETREG1	CLTCL1	SCN1B	SLC16A2	SLC13A5	ELP1	EP300	SATB2	DNM1	MPZ	RARS1	SPG11	KIF5A	COG5	MED27	TNR	SDHB	PDHA1	EGR2	PIGU	MT-ND6	TBC1D24	CNKSR2	PARS2	NTRK1	NARS1	PGAP1	DAG1	NECAP1	PSAT1	ACOX1	CLTC	PPIL1	DNAJC3	NDUFA2	TUFM	RNASET2	ECHS1	AIMP1	ALG14	ELOVL4	CLCN4	PRKDC	MT-ND4	RNASEH2A	KLC2	SLC19A3	COX15	GNB1	AP3B2	C2orf69	EXOSC2	GATAD2B	NDUFB3	YRDC	NDUFA1	YIF1B	LITAF	RAI1	NDUFB9	ABAT	PURA	NDUFAF5	NEUROD2	TRIM8	BCAS3	ALG8	HTRA1	SEPSECS	BOLA3	HSPD1	RFC1	PNPT1	SCO2	TYROBP	TFG	CTSK	C2CD3	DDOST	ATP6V1A	KARS1	VPS33A	NUP188	LIG3	ZMIZ1	HSD17B4	IER3IP1	INSR	ALG12	PEX7	HIKESHI	WARS2	PEX13	NUS1	CDKL5	CYP27A1	LMX1B	SCN8A	PIGL	PHACTR1	TNPO2	CUL3	SMPD1	DCX	CREBBP	NDUFAF8	EDNRB	IDH1	ATP1A3	SLC12A6	FOXP1	DPAGT1	PGM3	PEX1	ZNF699	ADAMTSL1	TACO1	RAB3GAP1	CTNNB1	MT-ND2	EIF2B2	BCAP31	ERCC1	AP3D1	SLC35A2	MCOLN1	INTU	RNASEH2B	MME	UPB1	FAR1	PPP1R15B	SPTAN1	IREB2	PIGQ	UBTF	EGF	SLC25A1	MFN2	HCN1	PIGS	FDXR	ERCC4	CTC1	ACBD5	GAN	NUBPL	ARX	MT-CO3	GTF2H5	STXBP1	NDUFB8	TMEM126B	CACNA1B	GNB2	HNRNPU	ATXN2	GRIN2A	TMEM240	TYMP	ERCC2	TMEM106B	PIGG	ALDH7A1	ACER3	ASNS	EXOC2	TIMM22	QARS1	WWOX	SOX3	TGFB1	EXOSC1	SYNGAP1	SCN9A	ACO2	MTRR	NDUFAF6	KMT2E	NDUFS3	FBXL4	DYRK1A	COX6B1	NDUFB11	CELF2	PPP2CA	PLEKHG2	SDHA	EXOC8	KCNT1	AIFM1	NMNAT1	PC	MT-TS2	PGAP3	UGDH	CNOT3	ATP6AP2	AHCY	NRROS	ALG13	TRAK1	MTFMT	GABRG2	RNF113A	CLP1	EPRS1	HS2ST1	FAM126A	RNF168	LMNB1	ARHGEF10	MT-ND5	SLC25A12	IDUA	MT-TV	MT-ATP6	ZFR	UFC1	ALDH3A2	MAT1A	CNNM2	ZNHIT3	PLPBP	DARS1	POLG	FLVCR1	HLA-DRB1	PIGO	PLEKHG5	DCAF8	PMP2	KIF1C	PRUNE1	CYB5R3	SLC6A8	GLUL	FGF12	LAMB1	TAOK1	MRPS22	TRMT10A	NDUFA11	KIF1B	GEMIN4	FGF13	MOCS2	COQ7	GAA	MMUT	ADSL	PEX16	ZC4H2	COX6A1	ALG11	ARF1	FOXG1	NDUFA6	PIGA	PDYN	TREX1	ASPA	GFAP	CARS1	ALDH5A1	PIGY	DHDDS	SETD1A	LEMD2	SLC25A22	COG7	EIF2B3	GJB1	PIGP	TRIM2	COA8	MOCS1	CYB5A	HLA-DQB1	RBM8A	ALG2	MT-TQ	NARS2	MLYCD	DHX16	MANBA
HP_DELAYED_MYELINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_MYELINATION	RERE	SLC12A5	YRDC	FLCN	PURA	NEUROD2	TRIM8	DPM1	FRMPD4	ALG14	TAF2	SEPSECS	KIDINS220	SCN2A	PRPS1	MAPK8IP3	RAB11B	KDM1A	YY1	VPS33A	AHDC1	PAK1	NUP188	ZMIZ1	MORC2	IER3IP1	ALG12	PEX7	GRIK2	SLC16A2	HIKESHI	WARS2	CDKL5	UBE3A	LMX1B	RNF13	PHACTR1	TNPO2	PPP2R1A	CUL3	SMPD1	DCX	CREBBP	MADD	IDH1	ARNT2	FOXP1	NACC1	GLYCTK	GNAO1	ADAMTSL1	RAB3GAP1	CTNNB1	RNU7-1	AP3D1	SLC35A2	GMNN	RHOBTB2	TXN2	EIF2AK2	UPB1	FAR1	PPP1R15B	GLS	POU3F3	UBA5	IREB2	ZNF335	PIGQ	SHANK3	GCDH	SMG9	SLC25A1	TRAPPC2L	TBCE	CLCN3	TRNT1	VPS11	NCDN	TKFC	FANCB	PIGS	FDXR	SPTBN1	ERCC6	DHX37	DDX6	MDH2	ADAT3	ITPA	ARX	D2HGDH	RMND1	HACE1	COPB2	KCNA1	RNASEH2C	MTHFS	STXBP1	SLC2A1	PIGV	POGZ	GNB2	HNRNPU	TRMT5	ARID1B	TMEM240	PIGN	PNPT1	TMEM63A	ALDH6A1	TAF13	ALDH7A1	STAMBP	ALG9	PRMT7	ASNS	ACTL6B	TIMM22	PKDCC	TGFB1	EXOSC1	ASXL1	DHFR	MTRR	KMT2E	PLAA	POLR2A	FBXL4	TRRAP	WWOX	PPP2CA	NTRK2	LIPT2	MAN2B1	LIPT1	COX7B	EXOC8	DHX30	NGLY1	KCNT1	AIFM1	NMNAT1	SYT1	PHGDH	UGDH	ACY1	CNOT3	OCA2	ISCA1	BMP4	ATP6AP2	CDK19	CDC40	AHCY	NRROS	ALG13	CLP1	HS2ST1	SIK1	PPP3CA	PMM2	GRM7	BRAT1	NR2F1	ADARB1	UFC1	PNKP	DMXL2	GFM1	PLPBP	SLC13A5	CASK	CLTCL1	SCN1B	FOXRED1	PRUNE1	EP300	SATB2	CYB5R3	SLC6A8	MRPS22	KIF5A	TRMT10A	GEMIN4	COG5	TNR	MMUT	PIGU	TBC1D24	ZC4H2	ALG11	NARS1	ARF1	PGAP1	FOXG1	PIGA	PSAT1	PPIL1	CARS1	ALDH5A1	SETD1A	ELOVL4	SLC25A22	CLCN4	COG7	PIGP	CYB5A	RBM8A	GNB1	MLYCD	EXOSC2	GATAD2B
HP_CHRONIC_CONSTIPATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_CONSTIPATION	MED13	MOGS	AFF3	SLC12A2	SUPT16H	SNCA	ADNP	IGBP1	MADD	USP9X	MYO1H	ADAT3	CNP	RAI1	PCGF2	HNRNPH2	MLXIPL	TRIM8	GIGYF2	EP300	MEFV	PPP1CB	FAR1	MNX1	TAOK1	SMO	USP7	LMNB1	MECP2	SETD1A	TNFRSF1A	NGLY1	POU4F1	EIF4G1	VPS35	ZNF292	FGF12	RORA	TFE3	PSMB8	TANC2	IPO8	TRIO	COL5A1	COL1A1	CREBBP	UPF3B	BICRA	ODC1	ELN	SETD5	SPOP	UGP2	POGZ	GBA	GNB2	ERBB2	TBCD	PPP1R21	EIF5A	HS2ST1	LRRK2	LMNB2	PHOX2B	OTUD6B	SH2B1	WASF1	LBX1	DNAJC13	UBE2A	MAGEL2	COL5A2	MSL3	PRKG2	MLYCD	MYH11	GATAD2B
HP_RESTLESS_LEGS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RESTLESS_LEGS	NEFL	DNAJC6	ATXN7	PODXL	PRKN	PINK1	VPS13C	SYNJ1	HTRA2	UCHL1	MFN2	LRRK2	FTL	PARK7	SNCA
HP_ELEVATED_TRANSFERRIN_SATURATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_TRANSFERRIN_SATURATION	PKLR	HFE	HJV	HAMP	SLC40A1	TFR2
HP_INFANTILE_SPASMS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFANTILE_SPASMS	GRIN1	MT-TL1	TRIM8	PIGA	KDM4B	ARX	CDKL5	NEUROD2	HK1	ALG14	ALG13	MT-ND3	SRPX2	ASAH1	SCN2A	APC2	ZNHIT3	TSEN2	NPRL2	NGLY1	TSC2	CDH2	CNPY3	GCDH	PAFAH1B1	SLC25A10	GRIN2B	KCNB1	CDK19	CDC40	SPATA5	MT-TK	HIBCH	NTRK2	TSC1	SLC19A3	SIK1	NEXMIF	CUL3	DCX	ST3GAL3	STRADA	DOCK7	PI4KA	MT-TV	DOLK	DMXL2	MT-ATP6	GRM7	GNAO1	ACTL6B	GUF1	WDR45	PNKP	SPATA5L1	SMC1A	RALGAPA1	PTPN23	SPTAN1	BTD	CASK	SCN1B	SLC1A4	MT-ND2	TSEN34	RNF13	PIGQ	NTNG1	KIF1A	TSEN15	MT-ND4	SEPSECS	SPTBN1	SLC35A2	PDHA1	DHX37	NDUFAF8	MMACHC	PLCB1	MT-ND6	ADGRG1	KCNA1	MGAT2	PPIL1	DEPDC5	SLC25A22	TSEN54	IFNG	MT-ND5	VPS53	NPRL3	FBLN1	CLCN4	PHACTR1	LONP1	PIGP	GABBR2	MAPK1	TANGO2	MT-TW	ALG2	MECP2	DHX16	TUBA8	MT-ND1
HP_THICK_VERMILION_BORDER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICK_VERMILION_BORDER	KDM6B	CIT	KAT5	ORC1	APC	RAF1	MLXIPL	SUPT16H	ORC4	CDC6	ATP6V1B2	KDM4B	ADAM22	RPS7	TBCK	ARID2	CLCN4	CDKL5	BRAF	BCAS3	SMG8	RRAS	GPC3	ABCC9	DOCK7	AGA	AIP	AMMECR1	RIT1	GTF2I	TBC1D24	NCF1	ZNF41	AFF2	LARP7	XYLT1	CHD2	GDI1	C12orf57	LIMK1	FTSJ1	YY1	RPS23	SOS1	PYCR2	EIF4H	VPS33A	PSMB8	AMER1	AP2M1	NAGA	EXOSC5	GPC4	SET	RPS6KA3	MAN1B1	VPS51	FIBP	NF1	IDUA	EBF3	KCNH1	RSPRY1	SMARCA4	ANTXR1	MYCN	OBSL1	SCUBE3	SLC9A7	CUL4B	EDEM3	MADD	RNU4ATAC	HUWE1	CNKSR2	ECM1	ERF	ZNF699	EDAR	ADNP	PHGDH	WDR26	NONO	SLC35A2	CA2	SC5D	SOX4	EDA	SNX14	GMNN	TFAP2B	SMARCB1	SMARCC2	MRAS	STRADA	ACSL4	DMD	CBL	ZEB2	ARHGEF6	BCL7B	NANS	SMG9	KMT2C	ARID1A	SYNGAP1	TRAF6	SMS	SLC2A1	BRCA1	IQSEC2	SPTBN1	HRAS	KREMEN1	COL11A1	SHOC2	SYP	KIF15	TASP1	EDARADD	CUL7	FUCA1	SOX11	DYRK1A	SMARCE1	ZNF711	ATRX	TSPEAR	ARID1B	TSPAN7	FLNA	MCM5	NRAS	SOS2	MED12	METTL27	TBL2	KCNN3	GALNT2	ACER3	EHMT1	CDC45	USP9X	NEXMIF	CAMTA1	RTL1	STAG2	RASA2	AFF3	IDS	SPEN	EXOSC1	IL1RAPL1	ADAT3	GNS	INSR	NSUN2	ELN	TMEM270	SLC6A1	RFC2	KRAS	DPF2	LTBP3	DLG3	HECW2	UGDH	CYP24A1	RNF135	FKBP6	KIFBP	ZBTB20	SPRED2	MID2	OFD1	STX1A	PIGL	SMARCD1	TOE1	TWIST2	BAZ1B	MEG3	FOXP1	RNF2	KCNK9	FBN1	ADAMTS2	FRMPD4	NEU1	CNTNAP1	ARX	RRAS2	EIF2S3	AP4S1	KDF1	BUD23	ERMARD	ALG13	RAB39B	STEEP1	DNAJC30	SIN3A	LZTR1	GPR101	MINPP1	P4HTM	SPATA5L1	GTF2IRD2	KAT8	HNRNPH2	CDT1	SMARCA2	AUTS2	CCDC8	AGTR2	TRIO	VPS37D	RBMX	KCNJ8	KIF11	DENND5A	SOX18	PPP1CB	PTDSS1	PTH1R	TCF4	NOG	SETD1B	SCN1A	UPF3B	TFE3	MOCS2	SEC31A	FRMD4A	ZMYM2	ANKRD11	CDH11	NAA10	AP1S2	PTCHD1	DLK1	DPYSL5	PUS7	GRIA3	USP27X	PAK3	SH3PXD2B	ORC6	PPP1R21	DEAF1	COG7	THOC6	CLIP2	KCNE5	GLA	ZNF81	SRD5A3	MOCS1	MECP2	GTF2IRD1	COG6	RIN2	OGT	NFIX	RET	CWC27	HCFC1	PTPN11
HP_ECLABION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECLABION	MLXIPL	FGD1	RPS6KA3	CUL7	PAX6	IGF1R	EEF1A2	IFT122	BCAS3	ABCA12	MGAT2	BDNF	KANSL1	SNRPN	EHMT1	FBXL4	TGM1	IRF6	AP4B1	NFIX	SMARCA2	FGFR1	ELN	AXIN2	TMEM270	GTF2I	NCF1	PITX2	EDARADD	HSPG2	MSX1	RFC2	DHX30	FBXO11	SPECC1L	LIMK1	EIF4H	KCNK4	QRICH1	TGFA	ANTXR1	TTC26	ALOX12B	ALOXE3	ERCC2	MAN1B1	CREBBP	FKBP6	KIFBP	TBC1D24	SLC25A24	STX1A	WNT10A	SCARF2	MECP2	ABCC9	SRCAP	LRP6	EDA	MCOLN1	BCL11A	IDUA	KCNH1	BAZ1B	WNT10B	SDR9C7	MYCN	PAX9	RPL10	TNPO2	ABHD5	ADAMTS2	KMT2C	FRMD4A	SALL4	BUD23	DOCK7	MYO18B	ERCC5	REV3L	DNAJC30	FOXG1	HRAS	TFAP2A	ADNP	NIPAL4	CDKL5	MED25	GTF2IRD2	TBL1XR1	NAA10	TFAP2B	ERCC1	POMGNT1	VPS37D	ATRX	WDR35	FHL1	SOX11	MED13L	BMP2	BCL7B	SMG9	EDNRA	AP4S1	GBA	CYP4F22	MED12L	SETD1A	OCRL	IFT52	SULT2B1	CCDC8	CHAMP1	ASXL3	TFE3	RAI1	LIPN	WT1	WDR26	CLIC2	NRAS	EDAR	HGSNAT	ERCC6	SMS	AP4E1	AP4M1	IFT43	ZSWIM6	PUS7	WDR19	OBSL1	RAB3GAP1	PLXND1	MDH1	METTL27	TBL2	CLIP2	RAB3GAP2	GTF2IRD1	FOXC1	KCNMA1	EDA2R	RIN2	MAP1B	MAFB	CHN1	SUMO1	MBD5
HP_TONGUE_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TONGUE_ATROPHY	NOP56	NEFL	MORC2	KY	SH3TC2	SLC52A3	SBF2	EXOSC3	PANK2	GSN	FRG1
HP_DECREASED_SPECIFIC_PNEUMOCOCCAL_ANTIBODY_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SPECIFIC_PNEUMOCOCCAL_ANTIBODY_LEVEL	IGKC	CD81	IGHG2	CR2	PIK3CD	CTPS1	ZAP70
HP_ABNORMAL_CEREBRAL_VEIN_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CEREBRAL_VEIN_MORPHOLOGY	GNAI3	ALX4	EDN1	RASA1	PLCB4	EPHB4	MSX2
HP_ABNORMAL_DENSE_GRANULES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DENSE_GRANULES	BLOC1S5	LYST	IKZF5	AP3B1	RUNX1	HPS3
HP_PANNICULITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANNICULITIS	FASLG	LCK	PSMB9	RNASEH2B	FAS	OTULIN	MYSM1	PSMG2	MEFV	ADAR	PRKCD	CASP10	HAVCR2	RASGRP1	RNASEH2A	ADA2	TREX1	RNASEH2C	PSMB8	IFIH1	PSMB4	KIF11	SAMHD1
HP_DESCENDING_AORTIC_DISSECTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DESCENDING_AORTIC_DISSECTION	MYLK	TGFBR1	LOX	ACTA2	SMAD3	FOXE3	MAT2A	TGFB3	COL3A1	SMAD4	ELN	HEY2	SMAD2	TGFBR2	MYH11	PRKG1	FBN1	TGFB2	MFAP5
HP_ABNORMALITY_OF_THE_BRAINSTEM_WHITE_MATTER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_BRAINSTEM_WHITE_MATTER	KIAA0586	SACS	LAMA1	TMEM216	CLCN3	LMNB1	TMEM67	ABCD1	ARL3	CSPP1	NPHP1	FLI1	INPP5E	AHI1	CEP290	CYP27A1
HP_ABNORMALITY_OF_THE_PITUITARY_GLAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PITUITARY_GLAND	FSHR	TP53	NDE1	FANCM	AR	LHX4	YY1	SHH	CDKN2B	NDN	KANSL1	LEPR	GH1	HBB	OTX2	SNRPN	TGIF1	PDE8B	PROP1	TRAPPC11	FOXL2	DCAF17	GHSR	THRB	SOX3	CDKN1A	AIP	SIX3	BAP1	TTC26	PREPL	MSTO1	PTCH1	SMARCE1	NODAL	NDNF	HSD3B2	CDON	NR5A1	ALG9	FOXH1	RRAS2	NFKB2	MEN1	POMC	FGF8	BRCC3	USP8	FGFR1	SLC29A3	TRAF7	CHD7	WT1	COG2	GPR101	EIF2S3	RRM2B	HESX1	ARNT2	MARS2	AAAS	TG	TDGF1	SEMA3E	ZSWIM6	TBCK	CYP17A1	TSC1	GMNN	SOX2	BNC1	SRD5A3	SMARCAL1	MT-ATP8	WFS1	CDH23	RPS20	CTNNB1	CYP11A1	LEP	WDR4	STIL	HS6ST1	TBCE	HPGD	IYD	ALMS1	LHX3	C14orf39	MKRN3	TDRD9	PRKACA	FLNB	DUSP6	MAGEL2	PSMC3IP	EPCAM	ZIC2	POR	ARMC5	POLA1	FLRT3	NANOS1	PCSK1	PRLR	PRKAR1A	ALX3	APOA5	SBDS	POU1F1	PROKR2	DISP1	ESR1	DNAJC21	POU3F4	TERT	TEX11	GATA6	SLCO2A1	KATNIP	NPAP1	PDGFB	SOX10	TMCO1	NKX2-1	DYRK1A	OCA2	PKD1	PIK3CA	GLI2	GANAB	GHRHR	SPIDR	ADAT3	STAG3	VAMP7	ZFPM2	DCC	NR0B1	GLI3	GNAS	MLH3	VPS13B	PNPLA6	APC	TGFBR2	IARS2	IDH1	DHX37	MSH2	KRAS	PKD2	KCNJ11	TSHR	TEX15	BMP4	SRP54	SRY	EDA	DHH	DUOX2	IGSF1	TSC2	FARSA	GAS1	CCDC141	DMXL2	WWOX	PI4KA	PMM2	GDF9	KISS1R	ZMYND15	DLL1	BICC1	TMEM67	CNBP	ABCD1	MADD	SLC16A2	BTK	BMPR1A	TP63	DNAJB11	FAN1	SECISBP2	TEX14	SNORD115-1	NSMCE2	KLHL10	ADGRG1	B3GLCT	CYB5A	PROK2	IDH2	TBX2	WDR11	STX16	CEP57	CDKN1B	KIAA0753	SYCE1	SNORD116-1	MCM4	AFF4	ACP5	FMR1	POLR3GL	EFL1	BMP15	CPE	TSHB	SRPX2	SOX9	CTSK	STAG2	TACR3	FSHB	LHCGR	PSMB8	PUF60	FGD1	MT-TL1	ERCC6	NF2	SIX6	ZNF148	FANCI	LARS2	IGF2	FEZF1	MLH1	XRCC2	FOXA2	SMO	AKT1	ADNP	TBX3	NONO	PAX8	SEMA3A	SMC1A	TBX19	SEMA4A	SMARCB1	VANGL2	GAN	GPR161	PITX2	SUFU	IL17RD	MCM8	PMS2	GNB2	DUOXA2	NUP107	ANOS1	PDGFRB	MRPS22	PWAR1	ROBO1	RFWD3	HSD17B4	ESCO2	AVP	CDKN1C	POLE	GATA4	POLR3H	FGF17	MAP3K1	GRM7	KMT2A	ERF	MEIOB	PMS1	SIM1	RNPC3	FIGLA	SOHLH1	TBL1X	MTHFR	PDE4D	SYCP3	SIN3A	MPDU1	PDE11A	ESR2	DMRT3	GMPPA	CFTR	MSH6	TRHR	HERC2	BRAF	FANCF	PPP2R3C	TPO	PWRN1	SLC35A2	POLR3A	IRS4	CBX2	MED12	STAT5B	THOC2	SPRY4	TAF4B	SLC5A5	RBM28	CDKN2C	SLC7A7	HFM1	WASHC5	PNLDC1	EDA2R
HP_ABNORMAL_SIZE_OF_PITUITARY_GLAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SIZE_OF_PITUITARY_GLAND	NDE1	SUFU	SIM1	CDH23	COG2	MED12	SMARCE1	NF2	GNB2	CTNNB1	NFKB2	BAP1	BRAF	TRAF7	TERT	FGF8	PDGFB	SMO	HS6ST1	KIAA0753	SMARCB1	MAGEL2	GHSR	AKT1	PIK3CA
HP_SMALL_PITUITARY_GLAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_PITUITARY_GLAND	MAGEL2	NDE1	GNB2	GHSR	KIAA0753	FGF8	COG2	SIM1	HS6ST1	MED12
HP_METAMORPHOPSIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METAMORPHOPSIA	ENPP1	CACNA1A	GNAQ	BAP1	CFI	PRRT2	ABCC6	CYSLTR2	PRPH2	BEST1	CRX	EFEMP1	ATP1A2	CFH	SCN1A	GNA11	SF3B1
HP_EXTRA_AXIAL_CEREBROSPINAL_FLUID_ACCUMULATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXTRA_AXIAL_CEREBROSPINAL_FLUID_ACCUMULATION	PPP1R21	TBCK	TET3	LMNB2	LMNB1	MADD	GRIK2
HP_TEMPORAL_OPTIC_DISC_PALLOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TEMPORAL_OPTIC_DISC_PALLOR	OPA1	CYP1B1	DNM1L	MYOC	MAG
HP_DIFFUSE_OPTIC_DISC_PALLOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFUSE_OPTIC_DISC_PALLOR	COL18A1	ZNF408	POMGNT1	DPAGT1	C1QTNF5	SCAPER	B3GALT6	TUB	COL4A1	MMP19
HP_UPPER_LIMB_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_LIMB_PAIN	B2M	KRT14	MFN2	FLI1	COMP	KRT5
HP_LOWER_LIMB_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_LIMB_PAIN	COL9A2	SLCO2A1	KRT14	COMP	LMX1B	GJB2	TRAPPC2	MT-TK	TONSL	MME	MFN2	KRT6A	NLRP12	LEMD3	ALDH18A1	ERLIN1	KRT17	B2M	HEPHL1	MT-ATP6	COL9A1	RASA1	COL2A1	KRT5	GJB6	TGFB1	FAR1	BSCL2	ACP5	KRT16	SPG7	PRKRA	COL9A3	HTRA1	MATN3	KRT6B
HP_HIP_FLEXOR_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIP_FLEXOR_WEAKNESS	GNE	DOK7	RAPSN	MUSK	CHRND	CHRNB1	CHRNE	SCN4A	AGRN	FLNC	LRP4	COL13A1	CHRNA1	MYOT	AK9
HP_ABNORMAL_CIRCLE_OF_WILLIS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCLE_OF_WILLIS_MORPHOLOGY	ANGPTL6	COL3A1	ENG	TGFBR3	THSD1
HP_DILATION_OF_VIRCHOW_ROBIN_SPACES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DILATION_OF_VIRCHOW_ROBIN_SPACES	HTRA1	SIAH1	CLCN3	ODC1	DCX	RPL10	PAFAH1B1	NGLY1
HP_SPIDER_HEMANGIOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPIDER_HEMANGIOMA	TCF4	MST1	SLC37A4	GPR35	SEMA4D
HP_ORAL_AVERSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORAL_AVERSION	SOX11	SLC7A7	PACS1	SOX4	ARID1A	SMARCE1	SMARCB1	ARID2	ARID1B	DPF2	SMARCD1	SMARCC2	ACAT1	SMARCA4
HP_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAIN	FSHR	TP53	NPHS1	IL12A-AS1	IL12A	SLC25A4	MT-TE	COL2A1	CDKN2B	MAT2A	TXNRD2	NLRP3	PRKCSH	DYSF	FLVCR1	CTNS	HSPG2	PTPN3	HOGA1	TCIRG1	EIF4H	UNC45A	TGFB1	DNAL4	APOB	PRNP	KRT6B	LDLRAP1	COL17A1	RNASEH1	PLN	MYH7	ERAP1	TWNK	ATRX	MT-TK	SMARCE1	DSE	CAV3	HELLPAR	PAX2	REEP2	MYF6	DLST	SI	PHKB	DMP1	CCN2	TRAF7	TGFBR2	DIS3L2	CYSLTR2	RIPK1	POLG	ACADVL	LMNA	FTL	MLX	SPTA1	STAT4	STIM1	F8	F12	PYGM	HPGD	MVK	NTN1	CLCN5	FLNC	CASR	CALR	EHHADH	RYR1	SH2B3	KY	FKRP	SPTBN1	TNXB	CHEK2	ELANE	TBK1	SCN9A	SRP54	ALMS1	IDH1	SLC34A3	NUP37	TRAPPC11	IL1RN	MIF	LRP5	BAP1	EPCAM	DCTN1	JAK2	POLG2	TONSL	ATXN3	PCSK9	PLCE1	MEFV	FLI1	ESR1	TERT	METTL27	SLCO2A1	PDGFB	MYH11	FHL1	HBB	VHL	CPT2	PKD1	GATM	MATR3	PIK3CA	RELA	PKDCC	SCNN1G	GAPVD1	PTPN22	GANAB	LACC1	MPL	DNM2	ENPP1	MYC	REST	GNAS	ELN	H19	TBX1	SDHAF2	FMR1	GBA	PRKAR1A	AP2S1	APC	COL9A1	COL4A6	RNF6	RABL3	FKTN	HLA-DRB1	CDC73	FGF23	TREH	SLC4A1	MSH2	NLRC4	CORIN	COL14A1	TNFRSF1A	FKBP6	PON3	POMP	MS4A1	FLT1	SLC26A2	MINPP1	RET	ICOS	BTNL2	ERLIN1	CAT	RRM2B	BUD23	SPINK1	TRIP13	ZNF469	HMBS	DNAJC30	CLCN1	SPTB	SDHB	PRKRA	SLC34A1	SPTLC1	SNX10	BRCA2	SAA1	ZFTA	CCND1	VPS37D	TRPV4	SMAD4	NLRP12	MATN3	ERBB3	VWA1	C4A	C9orf72	SMAD2	MT-TL1	CCDC78	CR2	SCN1B	LDHA	CRLF1	ANXA11	TET2	DNAJB11	GUCY2C	CCNF	SLC40A1	MYLK	NOD2	LMX1B	DMD	ANG	CHST3	FIP1L1	ANK1	ARHGAP24	HLA-B	PRDM5	ALDH18A1	CDH2	HEY2	TMEM127	PRKCD	TREX1	SEPTIN9	HPDL	ABCD1	MT-ATP6	STX16	GLA	CDKN1B	VAPB	ADA2	DPM3	ACP5	PORCN	UBQLN2	TNFRSF11A	SPAST	IDH2	POLR3GL	CASK	NF1	MYBPC3	TBC1D8B	TCF4	TGFBI	GFI1	COMP	ABCC2	VCP	STAT3	HTRA1	CD19	NKX2-5	AIP	GNA11	ASAH1	SLC22A12	BMPR1A	IRF5	HGD	SCN4A	HLA-DQB1	LIG3	PLCG2	NUP85	PSTPIP1	FGF13	CHCHD10	EXT1	HNRNPA2B1	CHMP2B	ALDOB	FIG4	DDIT3	AMPD3	NUP107	KRT6A	MLH1	MAFB	ANO5	BRCA1	CFI	MYO1E	MTMR14	WAS	OPLAH	TNFSF12	IRAK1	COL4A3	VDR	UFD1	EMD	KRT5	POMT1	HLA-DQA1	UBAC2	PIGT	TRPM4	EDN3	PALB2	PFN1	DKK1	XPA	SLC12A3	MDM4	SLC25A26	HIRA	TRAPPC2	MME	FUS	ALAD	HPS1	MFN2	SLC39A14	CLCN7	STOX1	SEMA4A	SMARCB1	MSTO1	PSMB4	MDH2	TSC2	SUFU	SDHD	EPHA4	PHKA2	GJB2	CD244	CCR1	PMS2	TGFB3	COL3A1	BVES	LEMD3	NPRL3	DLEC1	CAPN3	ERCC4	SEC24C	NAB2	LMNB2	CTRC	XPC	ZNF687	ZBTB16	ENO3	PIGA	CHST6	MYH3	CFAP410	RUNX1	WWOX	CPOX	AMPD1	TMEM43	EPB42	ABCB4	ZEB1	MESP2	DDB2	TAF15	NFKB2	NUP133	TBX6	CFTR	PTH1R	SQSTM1	HABP2	RB1	RBCK1	ALDOA	NUP93	ASXL1	PSMB9	DLL3	ATL1	OTULIN	PIGY	BAZ1B	SF3B1	SDHC	WIPF1	HNRNPA1	RNF168	CD81	SERPING1	EDNRB	PON2	POLE	MRAP	FBN1	GPR101	SYK	NPHS2	COQ8B	PPARG	NUMA1	ERBB2	CBL	ATP7B	MMUT	GPR35	HEPHL1	ERCC3	LPIN1	SOX10	TBL1XR1	FH	MT-CO1	ACTN4	SREBF1	TK2	SDHA	UNC13A	ARHGDIA	ERCC2	WT1	MC2R	KRAS	SEMA3C	RREB1	CDKN2C	CLIP2	SERPINF2	FAS	GTF2IRD1	BCL10	GJB6	TARDBP	PTPN11	EPB41	WNT1	TGFBR1	COMT	BIN1	OPA1	CFH	SFRP4	LPIN2	DNM1L	G6PD	GTF2I	CTLA4	NCF1	SLC25A11	COPA	MED12	CDKN1A	ABCA1	PGAM2	IGKC	MMP2	GNPTG	VANGL1	SPP1	ZMPSTE24	DNMT3A	EXT2	ALG9	DCC	NABP1	SYNE2	ANKH	RASA1	LPL	PMP22	CLCNKB	NTRK1	COL5A2	PHKG2	COL9A3	FDX2	SPTLC2	GNAQ	KIF1B	TRIM28	EWSR1	SMAD3	RPS20	LDLR	MTX2	BCL7B	NRTN	B2M	NFKBIL1	PRSS1	HLA-DPA1	COL8A2	TGFB2	BIRC3	IL6	KRT14	MYL2	CTNNB1	CCN6	CAV1	ASPN	CASQ1	GDNF	SCNN1B	CIITA	ABCG8	UBA1	CPA1	APRT	SVIL	NUP160	SCN5A	SCARB2	ENG	AGXT	HEXB	ACADM	HADHB	BCOR	CD2AP	DDRGK1	PSAP	MLH3	TLR4	MYOT	PON1	SOD1	DNASE1L3	RFC2	CCR6	NPRL2	EMP2	CD55	ATXN2	MAGI2	GYPC	TREM2	PRKG1	SMO	CD46	PNPLA2	PTPN2	PML	PKD2	FERMT3	COL1A1	CARS2	VSX1	SCN11A	ERCC5	HFE	POU6F2	CRPPA	HARS1	C1S	PHEX	IGHG2	CYP2R1	AAGAB	TEK	NEK1	IL12B	HS3ST6	GNA14	STAT6	BICC1	PPARGC1A	CNBP	BMP2	COL11A1	IFNGR1	ABCB11	COL11A2	TBX18	DNA2	FOXE1	SRSF2	ORAI1	PRTN3	ANKRD55	FN1	IL2RA	TNNC1	SLC2A9	KIT	FAN1	PHKA1	MEF2A	SYNE1	HLA-DPB1	DGUOK	MTTP	ATP8B1	NPM1	DEPDC5	GHSR	PDGFRA	DAXX	IL2RB	IL23R	F5	TRPS1	GP1BB	ERBB4	BSCL2	CEL	PPOX	MLXIPL	STK11	PLEKHM1	PRPH	STING1	LRP1	IRF4	GCGR	LBR	ABCC6	TRIM32	CTSK	HADHA	LIMK1	OPTN	TNFRSF13B	TYMP	STAR	PIEZO1	PSMB8	GNE	NR1H4	STAT5B	NOS1	TSC1	FOXP1	GLE1	NF2	PTEN	OPA3	IL10	ARVCF	SEC63	SLC4A11	NOTCH2	RAD51	MT-CO3	FAR1	AKT1	ABCG5	MFAP5	COL9A2	NFKB1	PGK1	NNT	PRSS2	GRHL2	CD247	PTPRO	ECE1	PALLD	TNFSF11	P4HA2	SLC34A2	GNB2	PKHD1	DAO	CRB2	KIF7	WNT3A	ANLN	ACAD9	TBL2	TNFRSF11B	EPOR	ALDH4A1	UFSP2	SPG7	SEMA3D	MCM6	COL10A1	LOX	MET	CYP27B1	COX6B1	IKZF1	KRT17	RARA	TMEM270	CAVIN1	MITF	SEMA4D	ATL3	SCNN1A	ATP7A	GLT8D1	PMS1	KCNN4	AGBL1	ACTA2	STX1A	GPC3	CDKN2A	THPO	MMP1	TRPA1	COL4A5	TYROBP	COL7A1	TMEM126B	KRT16	NGLY1	JMJD1C	GTF2IRD2	CLDN16	MSH6	MSMO1	MEN1	SLC22A4	TNFRSF13C	CARD8	RNU4ATAC	APOL1	MST1	MAX	NEFH	DBH	SH3TC2	FOXE3	COQ7	NUP205	KLRC4	COL5A1	POLR3A	IRF2BP2	ACTG2	LMNB1	CYP19A1	OVOL2	TRPC6	NDUFAF6	ANKFY1	EPAS1	INF2	MLYCD	MIEF2	MALT1
HP_CHRONIC_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_PAIN	ATXN3	FLVCR1	COL7A1	MMP1	TGFB2	CTSK
HP_DYSESTHESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSESTHESIA	PRNP	FMR1	CHST14	DKK1	ABCD1	GABRG2	SCN10A	ALDH4A1	DSE	SRPX2	SPTLC2	ZFTA	NLRP3	GRIN2A	PMP22	SDHA	RELA
HP_FOOD_INTOLERANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOOD_INTOLERANCE	COG8	SRCAP	ALG3	UNC45A	ELN	ASXL1	MLXIPL	GALT
HP_NON_HODGKIN_LYMPHOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NON_HODGKIN_LYMPHOMA	CTLA4	FASLG	ATM	FAS	ITK	FOXP1	CD28	CHEK2	TNFRSF1B	IKZF3	PRKCD	XIAP	PIK3R1	CASP10	POLE	PMS2	MDM2	FCHO1	NTHL1	RASGRP1	SMARCAL1	MYC	MAGT1	BCL10	NBN	MLH1	MSH6	RHOH	ADA	CDKN2A	TP53	SH2D1A	BIRC3	CCND1	SYK	MALT1
HP_CEPHALOHEMATOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEPHALOHEMATOMA	ITGA2	GP1BB	ITGA2B	F8	GP1BA	F2	ITGB3	CD109
HP_ELEVATED_ALDOLASE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_ALDOLASE_LEVEL	MT-CO3	MT-CO1	HSPG2	LPIN1	TGFB1
HP_ABNORMAL_INVOLUNTARY_EYE_MOVEMENTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_INVOLUNTARY_EYE_MOVEMENTS	PROM1	MYO5A	AGRN	TIMMDC1	NALCN	PDE6B	SLC2A1	RRAS	TAF2	TCIRG1	YARS2	EXT2	CEP41	RAB11B	ATXN1	MED27	FAM149B1	MICOS13	ERCC3	FANCF	EXOSC5	NDUFA10	ERCC4	FANCD2	MAB21L1	ISCA2	BBS5	MT-ATP6	CEP290	LRAT	EMC10	PHF21A	RIMS2	PLP1	PEX5	OPN1SW	ARV1	BBS7	TRIP12	GLRX5	SH3TC2	HGSNAT	CAV1	PHYH	PDE6H	PUS3	NDUFS8	POLG	MAD2L2	ATP1A2	SDHD	FANCA	CLCN3	FRRS1L	PET100	ATP1A3	IBA57	CNGB3	AP4E1	YAP1	DHX37	FBXW11	CACNA1B	LYST	GJC2	TCF20	NIPBL	GRID2	PEX12	UBA5	DUSP6	NDUFAF2	OPN1MW	RNASEH2C	TARS1	TONSL	REPS1	WDR35	NPHP1	DEGS1	SYT1	GBA2	ABCA4	RLIM	WT1	FOXE3	FGF8	GNB1	KATNIP	GALNT2	SOX10	ARL6	NKX6-2	MYT1L	TCTN2	ALMS1	ARNT2	VWA3B	RP1L1	PAX6	RAD21	PLAA	DAB1	PEX11B	DCC	NDUFAF4	PNPLA6	FMR1	FLRT1	KRAS	OFD1	ATAD3A	TUBGCP6	TENM3	PEX26	CLPB	CEP104	LSM11	HPDL	AGBL5	RUBCN	HIBCH	NT5C2	PEX16	MTRFR	ERCC6	PEX6	COL13A1	BUD23	GTF2E2	FANCE	PRCD	DNAJC30	PDE6C	PUS7	SNX10	SYNCRIP	NDUFA1	KCNJ13	SLC16A2	PDGFRB	AGO2	DHDDS	PIGT	COL18A1	ERCC8	CSPP1	SLC1A3	TRPM1	MT-ND6	IQSEC2	PEX13	ADGRG1	SPTBN1	NECAP1	CLTC	PROK2	ECHS1	YARS1	PIGQ	RNF216	STX16	KAT8	SEMA4A	CACNA1G	TMEM67	SLC19A3	SAG	BRCA1	CACNA1A	SPAST	PYCR2	SPATA5	HDAC8	MKS1	PRPF3	IFT122	HTRA1	VLDLR	KDM4B	ASAH1	HSPD1	GABRG2	ATG5	CYP7B1	SCO2	AIFM1	FOXRED1	CTBP1	RP1	CRYGC	DLAT	CC2D2A	TFAP2A	PSMD12	ATN1	NUP62	KIF1C	CRB1	GATA3	TMEM216	GPR143	JAM2	CENPE	HIKESHI	SDHA	GABRA2	SLC25A20	CYP27A1	SEMA3E	SCUBE3	TNRC6B	IMPDH1	CLDN19	TULP1	CNNM4	DPAGT1	EDNRB	SLC4A11	PLA2G6	TACO1	EGR2	BRAF	ADORA2A	TWNK	ATXN2	GNAS	IFT88	SYT2	CRIPT	KCNAB2	PDE6A	MAG	KLHL7	HCN1	CLCN7	OCRL	PEX19	SOS1	ACTL6A	ROM1	GAN	CPLANE1	TPP1	B9D1	PRPF6	LAMB2	SLC24A5	NSUN2	PRNP	NRAS	ALX4	COQ2	PAX2	GRIA4	TBC1D24	HS2ST1	CNGA3	AFF3	PEX1	SRCAP	HSPG2	DPYD	DNMBP	CPLX1	SOX2	NDUFS3	GDF6	PIK3R5	NDUFB11	BLOC1S5	NTRK2	VAMP1	FGF17	HSD17B10	SPTBN4	NDUFV2	LZTFL1	CNOT3	DNAJC12	PRPH2	DGUOK	KIF7	ALG13	MPC1	BAZ1B	GRM6	ATM	NEU1	SLC19A2	KCNC3	EBP	BEST1	DCX	GNAT2	TRAF3IP1	ERMARD	MERTK	BBS10	MT-TV	SIN3A	ATP13A2	UBE3B	NDUFS2	HLA-DRB1	PDE6D	HYLS1	RTN4IP1	OPA1	CACNB4	ABCB7	UBE2T	FOXC1	RP9	BBIP1	FSCN2	TTC8	TAOK1	CEP164	NDUFA11	WDPCP	ARL3	POU4F1	OCA2	ZNF292	CRYGD	B4GALNT1	MOCS2	NFIX	ADSL	ABHD12	CLRN1	FUZ	NDUFA6	ROBO3	RFWD3	NDUFS1	ADAMTSL4	B3GLCT	RD3	TOE1	CLIP2	PRKCG	GTF2IRD1	TRAPPC6B	AP3D1	ATXN10	DALRD3	SACS	UBAP1	DCT	MPV17	ALS2	POLR3K	HK1	FRMPD4	ITPR1	KIZ	MT-ND3	NDUFV1	FXN	GTF2I	TBCD	ATXN3	KRT5	AHDC1	SZT2	WFS1	MPLKIP	IFT27	SLC25A1	LETM1	CRYAA	NHS	TMEM240	SURF1	NDUFAF1	SALL4	NADK2	MYO7A	FA2H	REEP6	AGK	FDX2	PLK4	PACS2	TBCK	KIF1B	SLC18A3	MAPK8IP3	MRAS	SREBF1	L1CAM	IRF2BPL	WDR73	NDUFS4	NDP	CACNA1F	CHD7	LYRM7	SALL2	SQSTM1	HARS1	FLRT3	PRDM16	SLC24A1	CEP120	NAGA	ARID1B	PIGN	PROKR2	SCN1A	POU3F4	CWF19L1	NSD2	NDUFAF3	CCDC32	TBL1XR1	SLC25A24	SMC1A	RPGRIP1L	FCSK	PITX2	CNGB1	SPTLC1	BLOC1S6	RERE	DNM1L	ZNF408	CA4	NDUFS6	SIL1	EEF1A2	RECQL4	KCNA2	WWOX	SLC25A46	LIG4	BUB1B	PRR12	TYR	CDH3	KIAA0753	BMP4	CLDN11	RGR	CDHR1	FRMD7	NTNG2	FOXP1	CEP78	ADD3	ABHD5	AP3B1	CCDC141	ELOVL4	ANO10	PI4KA	RAD51C	EYS	PRPF8	NR2F1	CLTRN	NMNAT1	TNFRSF11A	COL11A1	ATOH7	VPS13D	GBA	PMPCA	VPS41	LAGE3	POMGNT1	ATF6	SAMD9L	PPP1CB	DNM1	IFT172	CFAP418	RPGRIP1	PDHA1	GJB1	ARL13B	ANKRD11	KIF2A	RNASET2	MME	SCN8A	AIMP1	SDHAF1	BRCA2	SETX	SNRPN	AP3B2	AIPL1	SLC6A19	LAMA1	MLXIPL	NDUFB9	SLC45A2	LCA5	ALG8	XRCC4	SRPX2	APC	RNU12	NR2E3	RP2	TACR3	LARGE1	BEAN1	SLC39A8	VPS33A	SLC12A6	ALDH18A1	NDUFAF5	TMEM231	UROC1	BBS9	KIF1A	ELOVL5	NUS1	LIM2	GALC	KIDINS220	UBE4B	SLC35A1	RPE65	GMPPB	SNAP25	TKFC	CREBBP	NDUFAF8	HUWE1	IDH1	DARS2	BBS1	TANC2	MT-ND2	GRK1	CHMP1A	MAB21L2	IDH3B	MTPAP	MYO9A	RNASEH2B	GUCY2D	DDX6	BCAS3	LMNB1	ATXN8OS	SLC5A6	POLR3B	MMP23B	SOX3	NUBPL	TMEM237	TDP1	GTF2H5	PCYT2	NRL	GRIN2A	PNPT1	KCNV2	SPG7	CHN1	ADPRS	SAMHD1	MPZ	IFT43	MVK	FGFRL1	SPEN	NDUFAF6	BBS12	ANK1	FBXL4	MAP2K2	OPN1LW	BRIP1	PLEKHG2	PPP2R5D	PEX10	INPP5E	LONP1	HESX1	CLN5	CBY1	STX1A	ATP6V1A	LIPT1	TRAK1	ADAR	EFNB1	MTFMT	PEX7	SLC9A6	DHCR24	SPATA7	MINPP1	SPTBN2	GTF2IRD2	DARS1	FGF12	RNU4ATAC	LRMDA	LUZP1	MC1R	POC1B	ALG2	ERCC2	NAA10	TTR	TREX1	CARS1	GABRD	SKI	PRPF4	FGF14	SPRY4	PPP1R21	KANK1	ACOX1	LRIT3	CRYBA4	JARID2	HPS3	AHI1	GPR179	MAF	SLC6A3	UNC80	SLC9A1	BRAT1	CCDC28B	STUB1	EXOSC3	PRSS12	TAT	ATP5F1A	RIT1	L2HGDH	FANCC	PEX3	PLD3	EIF4H	ATP2B3	NYX	MTHFR	PHGDH	POLR3A	HMX1	ERCC5	LRP5	PACS1	CASK	CEP19	GNB5	SLC7A14	PCARE	CNTNAP2	IFIH1	RNU7-1	SMC3	PTPN23	MTR	SNX14	ERLIN2	SRD5A3	DNMT1	ALG3	SLC33A1	HS6ST1	KARS1	SERPINI1	WDFY3	MMACHC	MTRR	FUS	NDUFB10	TUBB4A	MRE11	TELO2	PTCD3	MRPL12	CRX	GNB3	BCORL1	SUFU	MARS2	TMEM63A	METTL27	SYT14	DHCR7	GABRB2	DPP6	GUCA1B	FASTKD2	MT-ND1	PTPN22	CERKL	KDM6A	TRIM32	PRX	GCH1	USP45	BDNF	PRKD1	KCNMA1	NDUFA4	ATXN7	ELN	OXR1	SLC1A2	MAN2B1	AARS1	HPS4	KMT2E	SLC52A2	NDUFS7	FKBP6	BRD4	RAB18	NSD1	KCND3	ACTL6B	MT-TK	OTUD5	SNIP1	MKKS	PRPS1	ZFYVE26	BCOR	NDUFA12	MBTPS2	TCF7L2	CABP4	PHIP	PEX14	GFM1	IGBP1	CLTCL1	VPS37D	KIF11	EP300	IARS2	GABRA5	RARS1	UCHL1	ARL2BP	NEFL	KIF5A	PHF6	PIGU	CNKSR2	PARS2	TMEM138	PGAP1	PSAT1	TAF1	XRCC2	COG4	SETD1A	RNASEH2A	HTT	COX15	RFC1	PRPF31	LRP4	EXOSC2	PTPN11	EEF2	PIGG	NDUFB3	IFT140	RAF1	OSTM1	TBP	MMADHC	ANTXR1	GM2A	PRKCZ	OPA3	GMPPA	THG1L	WARS2	CTDP1	UGP2	GPAA1	PEX2	ADGRV1	TTBK2	DKK1	FAM161A	PALB2	CRYBB1	CHAT	CACNA1H	DHX38	ATP6V1E1	HPS1	FANCG	PIGS	FDXR	TMEM126A	ACBD5	RDH12	BLOC1S3	SOST	PDPN	CACNA2D4	NDUFB8	TMEM126B	SOS2	PRRT2	TMEM106B	TSPAN7	TTC19	GJA8	SNRNP200	ANKRD17	APC2	FBN1	SYNGAP1	HSD17B4	SMPD1	SATB1	MAP2K1	CELF2	ZNF423	PANK4	USP7	WHRN	UBE3A	SDHB	KLC2	OCLN	RBP3	SLX4	MPDU1	PCYT1A	RHO	EPRS1	SCAPER	INPP5K	CYP1B1	RRAS2	EIF2S3	PMP22	ARHGEF2	NOP56	TCTN3	SVBP	ZNF513	FOXL2	RPIA	BBS2	STX3	MT-ND4	SPG11	ARX	SLC35A2	WASF1	RORA	FGF13	OTX2	IQCB1	SYNE1	EPG5	MT-ND5	MN1	SIX6	CBL	MOCS1	EXTL3	OGT	NAXE	ZMIZ1	TRMT1	RAD51	NDUFA13	TRIM44	DPM1	NEK2	CP	NCF1	MRPS34	DOCK3	SCN3A	WDR48	NELFA	ALG1	SDCCAG8	IMPG1	GRIK2	NDNF	IFT74	SLC29A3	FANCL	DPYSL5	YWHAG	TUBGCP4	JRK	APTX	BCL7B	FGFR1	KCNB1	SYNJ1	BPTF	PMM2	GABRB3	HPS5	SLC17A5	TOPORS	HMGB3	GFER	KIAA0586	USH2A	TANGO2	MT-TW	FANCB	GRIN2D	FANCI	ATP6V1B2	CTNNB1	SIGMAR1	SLC25A4	CISD2	PSAP	SLC12A2	RFC2	PDE6G	NDUFA9	UBR7	PRDX1	GRM1	SPRED2	SLC5A7	IMPG2	MCOLN1	ATCAY	XYLT2	GNAT1	COQ5	SON	VPS13B	KRT14	AFG3L2	DTNBP1	CYFIP2	ARHGEF18	CAPN1	SLC13A5	TUB	RNF2	CFAP410	NTNG1	EXOSC9	NDUFA2	TUFM	ERCC1	XRCC1	CACNA1E	TTPA	WDR11	PNPO	SRY	TYRP1	ESCO2	USP8	HLA-B	IFRD1	MED13	GDAP2	CRYBB2	LIMK1	KCNK4	MECR	GDF3	PIBF1	FEZF1	TCTN1	AHR	PAX7	SLC6A6	CDK19	FAR1	DDB1	HPS6	ZNF699	PURA	PDP1	SETD2	SEMA3A	MADD	PALS1	NANS	TET3	TUBB3	CLCN6	TNFSF11	P4HA2	IL17RD	GABRA1	ANOS1	IDH3A	WDR19	PORCN	TBL2	RPGR	NOTCH2NLC	MAFB	RASA2	FANCM	MT-TL1	ACO2	NPHP4	THOC2	SCN2A	TMEM270	BBS4	NCAPG2	FAT2	HECW2	PPP3CA	MAK	KIAA1549	TINF2	OPHN1	RNF113A	CLP1	CASZ1	AARS2	CNGA1	LMBRD2	LZTR1	P4HTM	CLDN16	RHOA	ARMC9	KMT2D	CACNA2D2	GJA1	IFT52	IPO8	AGTPBP1	ASPA	COX10	RLBP1	TRAPPC4	PDZD7	NARS2	SLC38A8
HP_FATTY_REPLACEMENT_OF_SKELETAL_MUSCLE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FATTY_REPLACEMENT_OF_SKELETAL_MUSCLE	GIPC1	GNE	FKRP	VCP	CRPPA	ANO5	NEB	HNRNPA2B1	FKTN	ITGA7	MYH14	POMT1	FXR1	MYOT	FLAD1	POPDC3	SECISBP2	HNRNPA1	DNAJB6	PNPLA2
HP_ABSENT_THUMBNAIL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_THUMBNAIL	PNKP	DMXL2	SCN2A	PIGP	ATP6V1B2	TRIM8	SIK1	KCNA1	SLC25A22	NEUROD2	CASK	CDKL5	SCN1B	GRM7	GNAO1	PIGQ	ARX
HP_DELAYED_MENARCHE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_MENARCHE	DNM1L	ZMPSTE24	STUB1	GHR	LMNA	FSHB	ALMS1	SLC25A13	PTPN11
HP_ABNORMAL_NEPHRON_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NEPHRON_MORPHOLOGY	NF1	NPHS1	FASLG	IL12A-AS1	YRDC	MLXIPL	FN1	MYO1E	MT-ND6	FCGR2A	IL12A	UMOD	TBC1D8B	TMEM67	BSND	TRIM8	LPIN2	INF2	PRKCD	FAH	AMMECR1	G6PC1	MT-ND3	GTF2I	NUP133	CTLA4	NCF1	SLC22A12	SLC25A11	SCO2	COPA	SURF1	SMARCAL1	BTNL2	TRPC6	VHL	LAMA3	LIMK1	EIF4H	WT1	AGT	MT-TW	NUP85	PGM3	HLA-B	GATA3	PLCE1	KIRREL1	ERAP1	NPHP1	MT-TH	PAX2	PTPRO	DNMT3A	NUP107	DLST	ANTXR1	CASP10	C1QA	MT-CO1	WAS	MT-ND1	COL4A3	MAGI2	CLCNKB	VPS33A	SHPK	TREX1	STAT4	UBAC2	RNU7-1	DAAM2	CD81	SLC12A3	SLC37A4	MEFV	TPRKB	PUS3	CFI	NPHP3	EMP2	MME	SGPL1	ANLN	ACSL4	LAMC2	XPNPEP3	WDR73	BCL7B	MT-TF	OCRL	HLA-DPA1	JAK1	LMNB2	LAMB3	ALMS1	APOL1	NPHS2	NUP37	MMACHC	MDH2	ITGB4	MT-CO3	SDHB	FAN1	PLEC	TP53RK	CCR1	HNF1B	MT-CO2	NDUFB8	SLC30A9	COQ2	KIF1B	JAG1	ELP1	CRB2	MT-TL1	COL4A4	METTL27	TBL2	LAMB2	NUP205	CPT2	MUC1	NPHP4	NDUFAF3	CTNS	CFH	DCDC2	PTPN22	NUP160	C4A	GAPVD1	PBX1	CD2AP	MRPL3	RET	ARHGDIA	MT-TK	MTRR	SLC12A1	REN	SLC41A1	ELN	FOXP3	APOE	TMEM270	GBE1	FOXC2	TLR4	SDHAF2	FCGR2B	DNASE1L3	RFC2	RASGRP1	ACP5	IL10	CEP83	MT-TS2	LMX1B	NUP93	CLCN5	FKBP6	INVS	NDUFAF6	NOS1AP	STX1A	KCNJ1	ACTN4	BAZ1B	MMP1	SDHC	COL7A1	WIPF1	WDR19	TRAF3IP1	BUD23	MT-ND5	LMNA	PMM2	MYOCD	AGTR1	DNAJC30	MT-TV	ITGA3	MT-ATP6	C3	IFT122	COQ8B	SEC61A1	GTF2IRD2	FAS	MTX2	CFHR5	IFNGR1	LAGE3	VPS37D	MT-ND2	DPH1	DGKE	ZAP70	SPRY2	RPGRIP1L	MRPS22	PRTN3	SOX18	PKHD1	DNASE1	MT-ND4	SCARB2	C1QB	MAX	OSGEP	FH	SLC2A9	AVIL	MT-TE	GON7	MMUT	ADA	SOCS1	HLA-DPB1	KLRC4	COL4A5	ZNFX1	NDUFS2	ACE	COQ6	SDHA	ARHGAP24	IL23R	TMEM127	ANKFY1	EPAS1	SLC7A7	CLIP2	KCNE5	GLA	BCS1L	SDHD	GTF2IRD1	HLA-DRB1	PDSS2	MT-TQ	GLIS2	NARS2	C1QC
HP_MINIMAL_CHANGE_GLOMERULONEPHRITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MINIMAL_CHANGE_GLOMERULONEPHRITIS	NPHS1	NPHS2	GAPVD1	COQ8B	KIRREL1	WT1	TBC1D8B	PAX2	EMP2	LAGE3	CD2AP	PLCE1	ARHGAP24	CRB2	NUP107	ZAP70	ARHGDIA	TRPC6	ANLN	ANKFY1	MYO1E	APOL1	NUP133	COL4A3	INF2	SMARCAL1	MAGI2	PTPRO	LMX1B	NUP37	NUP205	NUP93	NUP85	NUP160	ACTN4
HP_RENAL_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_ATROPHY	DCDC2	TMEM67	PAX7	MUC1	ZMIZ1
HP_MACROSCOPIC_HEMATURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACROSCOPIC_HEMATURIA	CD81	APRT	GP9	ITGA2B	HPRT1	ITGB3	GP1BA	F8	GP1BB
HP_STEROID_RESISTANT_NEPHROTIC_SYNDROME	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STEROID_RESISTANT_NEPHROTIC_SYNDROME	DAAM2	EMP2	AVIL	NUP133	NUP160	NUP93	NUP85	KIRREL1	NUP205
HP_ABNORMAL_URINARY_ELECTROLYTE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINARY_ELECTROLYTE_CONCENTRATION	TGFB1	GANAB	GABRA3	CDC73	MLXIPL	GNA11	TMEM67	ENPP1	SLC34A1	FCGR2A	KCNJ5	CDKN2B	BSND	SLC12A1	TXNRD2	NR0B1	CDKN1C	GNAS	CASR	HRAS	ELN	SLC9A3R1	INSR	TMEM270	GTF2I	ABCC6	CTNS	NCF1	AP2S1	SLC22A12	RFC2	KCNJ16	COA8	BTNL2	LIMK1	CYP21A2	STAR	HNF4A	EIF4H	FGF23	HNF1B	CDKN1A	CACNA1S	CLCN5	PIK3C2A	CYP11B2	PKD2	CYP24A1	FKBP6	SLC2A2	GCM2	STX1A	KRAS	KCNJ1	SCNN1A	ALDOB	NRAS	HSD3B2	FXYD2	CDKN1B	ALG9	BAZ1B	ADCY10	OCRL	CLCNKB	DMP1	PHEX	FAM20A	ALPL	BUD23	ATP6V0A4	MRAP	CYP11A1	DNAJC30	KCNJ10	MT-TN	CFTR	PIGT	IFT122	HSD11B2	BICC1	CNNM2	SARS2	GTF2IRD2	CLDN16	MAGED2	SLC12A3	SLC34A3	SCNN1G	VPS37D	MEN1	INPPL1	EHHADH	NNT	EGF	BCL7B	AVPR2	KCNJ18	CYP11B1	SURF1	SLC2A9	DNAJB11	SCNN1B	ATP1A1	PTH1R	ATP7B	NDUFAF6	MC2R	METTL27	CLDN10	CDKN2C	TBL2	CLIP2	CLDN19	MUC1	CLCNKA	GTF2IRD1	HLA-DRB1	AMMECR1	DCDC2	PKD1	GATM
HP_ALBUMINURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ALBUMINURIA	ABCC8	GANAB	PKD2	BICC1	IER3IP1	GCK	PEX1	KCNJ11	GALT	PDX1	STAT3	ALG9	SLC37A4	DNAJB11	PKD1	MIA3	INS
HP_MODERATE_ALBUMINURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MODERATE_ALBUMINURIA	ABCC8	PDX1	IER3IP1	STAT3	SLC37A4	GCK	KCNJ11	MIA3	INS
HP_ABNORMAL_URINE_POTASSIUM_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_POTASSIUM_CONCENTRATION	CLCNKB	SLC34A1	NDUFAF6	SLC12A3	GABRA3	CTNS	CYP11A1	KCNJ18	CLCNKA	KCNJ1	BSND	SLC12A1	ATP1A1	CACNA1S	KCNJ10	EHHADH	GATM
HP_ABNORMAL_URINE_PHOSPHATE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_PHOSPHATE_CONCENTRATION	PHEX	SLC2A2	GCM2	SLC34A3	KRAS	ENPP1	CLCN5	ALDOB	NRAS	MEN1	INPPL1	PTH1R	GNAS	EHHADH	HRAS	ATP7B	SLC9A3R1	SLC34A1	NDUFAF6	DMP1	ABCC6	CTNS	FAM20A	COA8	CASR	SURF1	HNF4A	FGF23	CDC73	MT-TN	GATM	OCRL
HP_ABNORMAL_URINE_SODIUM_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_SODIUM_CONCENTRATION	CLCNKB	SLC34A1	NDUFAF6	CYP11B2	HSD11B2	MC2R	CYP11A1	AVPR2	CLCNKA	KCNJ10	BSND	MRAP	STAR	TXNRD2	EHHADH	GATM	NNT
HP_HYPERNATRIURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERNATRIURIA	CLCNKB	BSND	MRAP	STAR	CYP11A1	MC2R	AVPR2	TXNRD2	CLCNKA	NNT
HP_RENAL_SODIUM_WASTING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_SODIUM_WASTING	SLC34A1	NDUFAF6	CYP11B2	KCNJ10	EHHADH	GATM
HP_ABNORMAL_URINE_MAGNESIUM_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_MAGNESIUM_CONCENTRATION	EGF	IFT122	SLC12A3	CASR	CNNM2	ATP1A1	GNA11	FXYD2	CLDN16	CLDN19	KCNJ10
HP_HYPERMAGNESIURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERMAGNESIURIA	EGF	CASR	CNNM2	GNA11	CLDN16	CLDN19
HP_ABNORMALITY_OF_URINARY_URIC_ACID_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_URINARY_URIC_ACID_LEVEL	PRPS1	HPRT1	SLC22A12	MOCS1	PNP
HP_ABNORMAL_URINE_CYTOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_CYTOLOGY	NF1	PTPN22	GANAB	SCARB2	YAP1	AGXT	FN1	MYO1E	CD2AP	RET	WT1	BCOR	COL4A1	HBB	LPIN2	HPRT1	STAT3	REST	ITGB3	H19	ITGA2B	HLA-B	F2	AMMECR1	RARA	SDHAF2	GBA	CTNS	CTLA4	CD46	IL17RA	F5	SLC22A12	SLC25A11	COL4A6	DNASE1L3	SLC37A4	CLEC7A	HOGA1	SMARCAL1	VHL	TREX1	MMACHC	HNF1B	F8	UMPS	CLCN5	PML	PKD2	PRDX1	GATA3	LYZ	NOS1AP	GPC3	GLA	GP1BA	STAT5B	GDF2	TSC1	SPP1	KANK2	DNMT3A	COL4A3	POU6F2	ALG9	DLST	IL17RC	COL4A5	HMOX1	GRHPR	SDHC	MCFD2	NABP1	NUP93	COL4A4	DIS3L2	CLDN19	IRAK1	C3	IL17F	TRIP13	SMAD4	LMAN1	SDHB	THBD	STAT4	ITGA6	F10	CD81	NUP133	BICC1	LMX1B	SLC5A1	CLDN16	BRCA2	HLA-DRB1	NUMA1	TRIM28	CFHR5	NOTCH2	PRKAR1A	CFB	SREBF1	ACSL4	SPRY2	PRTN3	GP1BB	OCRL	HLA-DPA1	MAX	SPTBN1	LMNB2	TBL1XR1	FH	SLC2A9	ACVRL1	CFI	INF2	DNAJB11	NUP85	MDH2	HLA-DPB1	IRF2BP2	APOA1	TSC2	FAN1	P4HA2	SLC34A2	NPM1	ITGA2	KIF1B	ITGB4	FIP1L1	B2M	SDHA	CD109	TMEM127	ENG	GP9	EPAS1	KCNE5	SERPINF2	AGGF1	SLITRK6	SDHD	TRAF3IP2	APRT	ACP5	ZBTB16	CFH	PKD1	FGA	ADAMTS13
HP_CHRONIC_KIDNEY_DISEASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_KIDNEY_DISEASE	NPHS1	YRDC	MYO1E	TMEM67	TBC1D8B	BNC2	LZTFL1	INF2	PRPS1	NUP133	CTNS	SLC22A12	CEP164	SMARCAL1	TRPC6	GSN	WT1	DZIP1L	TMEM231	CEP290	NUP85	TTC26	GATA3	PLCE1	NPHP1	PAX2	WDR19	CHRNA3	ALG9	RAD51C	NUP107	EIF2AK3	OCRL	COL4A3	MAGI2	SH2B1	NTRK1	ZNF699	RNU7-1	IQCB1	CD81	SARS2	TSC1	SLC37A4	CLCN5	TPRKB	PUS3	DNAJB11	SGPL1	ANLN	EHHADH	XPNPEP3	B2M	STOX1	ALMS1	PTPRO	APOL1	NPHS2	NUP37	NPHP4	SLC7A7	FAN1	TTC21B	IFT140	TP53RK	LAMB2	IFT43	JAG1	CRB2	HNF1B	COL4A4	CLDN19	NUP205	DCDC2	CPT2	MUC1	APRT	NPHP3	CFH	PIGA	PKD1	GATM	NUP160	PKHD1	PKDCC	GAPVD1	GANAB	ARHGDIA	CD2AP	MEFV	SLC41A1	PKD2	KYNU	SLC34A1	COL4A6	EMP2	DSTYK	CEP83	INVS	LMX1B	CC2D2A	NUP93	CORIN	MAPKBP1	NDUFAF6	GCDH	NOS1AP	ACTN4	FLT1	SRCAP	MMP1	CLCNKB	TSC2	AGXT	COL4A5	COL7A1	TMEM126B	TRAF3IP1	REN	PYGM	MYOCD	IFT122	BICC1	COQ8B	SEC61A1	CLDN16	SAA1	CFHR5	LAGE3	NOD2	FN1	PRKCD	DGKE	NEK8	SPRY2	RPGRIP1L	SOX18	SDCCAG8	LDHA	OSGEP	SLC2A9	AVIL	BSND	GON7	MMUT	CD151	ARHGAP24	AHI1	ALDOB	ANKFY1	IFT172	ACP5	GLIS2	CLCNKA	PPOX
HP_ABNORMAL_INTRAOCULAR_PRESSURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_INTRAOCULAR_PRESSURE	CYP1B1	COL2A1	GNAQ	BAP1	ASPH	PRSS56	LMX1B	VSX1	LOXL1	C1QTNF5	COL18A1	HMX1	HLA-A	TEK	ZEB1	OVOL2	GNA11	SF3B1	FOXE3	CHST14	ADAMTS17	PXDN	SLC39A14	LTBP2	GRHL2	CYSLTR2	MYOC	ASB10	DSE	FN1	COL8A2	PITX3
HP_RETINAL_VEIN_OCCLUSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_VEIN_OCCLUSION	LOXL1	CYP1B1	MYOC	F12	SERPINC1
HP_ABNORMAL_INFLAMMATORY_RESPONSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_INFLAMMATORY_RESPONSE	IL12A	UMOD	WAS	GNA11	ZEB2	REL	FCGR2A	RTTN	NLRP3	TBX20	JAK3	IL6ST	SKIV2L	TCIRG1	GATA3	FLVCR1	TGIF1	HDAC4	TCF3	TAP1	SELENON	RET	RUNX2	ERCC3	MAB21L1	FBLN5	USB1	PRMT7	PAX2	WDR19	ALOXE3	RSPH1	IKZF3	TBCD	CTC1	SAMD9	OFD1	DEF6	TAF1	PRF1	ACADVL	BLNK	LTBP1	STAT4	POGLUT1	KDSR	FOXJ1	PSTPIP1	CASP8	CDON	CIITA	HPGD	MVK	EDA	LRRC8A	IL12RB1	CAV1	IGHM	SMARCB1	MEG3	STAT3	CASR	CDH23	CALR	CYP7A1	SDHD	TGFBR1	JAK1	DNMT1	ELANE	LAMB3	LYST	MS4A2	SRP54	NUP37	MBTPS2	DNAAF6	SFTPB	TRAPPC11	RTEL1	IL1RN	NIPBL	BAP1	SIX3	UROS	ODAD3	IL10RB	RNASEH2C	RTL1	TARS1	TONSL	ARID1B	CSPP1	DISP1	CFAP298	TGFBR2	NCF4	HBB	APOE	POU2AF1	PKHD1	SCNN1G	GAPVD1	ALMS1	LACC1	AIRE	PLOD1	CARD9	ADAT3	RAD21	CCDC39	GNAS	IL21	DNAAF11	TBX1	EGFR	PRKAR1A	ODAD1	TRPM4	FGFR3	NLRC4	ADAMTS3	SIK3	MGP	SLC25A13	FGF8	MS4A1	PCCB	KRT17	SMARCD1	GLIS3	RAI1	CCDC65	GAS1	PLCG2	BUD23	TERC	NIPAL4	SPINK1	LMNA	PMM2	IL17F	DNAJC30	SPTB	SH2D1A	RNU4ATAC	SPTLC1	TLK2	STX11	RAG1	NLRP1	FLI1	SIAH1	SNX10	ABCA12	PTEN	AASS	DCLRE1C	DEAF1	GUSB	CRLF1	SFTPC	H6PD	HACD1	CBS	LDHA	ERCC8	PDHA1	DNAJB11	XPA	TNFRSF13B	CFAP52	TP63	CXCR4	NOD2	MBL2	IL2RG	FGFR2	KRT10	FIP1L1	B2M	HLA-B	C1R	PLXND1	LIG4	STX16	F13A1	CDKN1B	LEP	CACNA1G	ANO5	AFF4	IL18BP	EFL1	MT-ND6	DRC1	HDAC8	ALDH18A1	TBC1D8B	PURA	TGM1	AIP	G6PC1	STAT5B	FIG4	PSEN1	SLC6A5	DSG1	APOC2	STAG2	CLEC7A	LAMA3	GLB1	GSN	COL5A2	F13B	MT-TW	NUP85	TMC8	ALG12	PTPRC	PSMG2	ARPC1B	DDB2	KNSTRN	NCF2	MYO1E	CD247	CTSB	UNC119	OPLAH	TNFSF12	IRAK1	COL4A3	UFD1	MAGI2	CTSC	CCBE1	PSENEN	HLA-DQA1	CARD11	MCCC2	EN1	PLA2G6	RYR1	ITGA6	CD27	MME	NPM1	GLI2	NUP107	PDGFRA	CLCN7	OCRL	DSE	PSMB4	CAPN3	NKX2-1	RETREG1	SETBP1	SHH	MAP3K7	SHANK3	FECH	NSUN2	MYL2	COL3A1	ADA	DCDC2	ERCC4	LONP1	MAPK1	TET2	CTRC	ASAH1	TRAF3IP2	XPC	ZBTB16	ANAPC1	CD79B	NODAL	COL7A1	RUNX1	TGFB1	ITK	RFXAP	CD3G	NFKB2	NUP133	BPTF	B3GALT6	CFTR	MT-TS2	NUP93	PHGDH	DNAI2	PAFAH1B1	DNAAF5	BAZ1B	HGD	TG	RAC2	EBP	WIPF1	RNF168	MT-ND5	NCF1	GPR101	SYK	NPHS2	COQ8B	ATL3	HLA-DRB1	PPARG	NUMA1	BTD	ATP7B	NOP10	POLH	NBN	MMUT	FERMT1	FANCF	TAOK1	CHST14	FCHO1	LPIN1	TNFRSF1A	COL17A1	ATN1	MT-CO1	TNFSF15	HLCS	STXBP2	SOCS1	HLA-DQB1	ACTN4	SLC25A15	ABCB4	FCGR3A	FUZ	TK2	CSF2RA	IL7R	ERCC6	PDGFRL	GPIHBP1	ARHGDIA	ERCC2	IQSEC2	SLC7A7	CLIP2	COX4I2	ADAM17	FAS	GTF2IRD1	RMRP	BTK	MPV17	EPCAM	SRCAP	BRAF	KANSL1	GTF2I	NFE2L2	CTLA4	AK2	TIMM8A	ERF	KRT5	TCF4	CFB	IGKC	NHLRC1	MPLKIP	LETM1	WT1	PTPN22	MT-TH	PNPLA1	SPP1	LPIN2	HYDIN	RANBP2	ALG9	CD28	FOXH1	SMARCA4	CASP10	NABP1	DLG1	NTRK1	PAH	CARD14	DNAH1	SLC25A24	SH3KBP1	GNAQ	TBCK	TDGF1	ABCC6	EMP2	WDR35	NECTIN1	SREBF1	CFAP300	TTC7A	TRAF6	CD3D	TREX1	WDR26	SUOX	MT-CO2	STAT1	AUTS2	SMAD3	FLG	MSX1	ATP8B1	SPTA1	PIGN	DNAJC21	COL4A4	C1S	IGLL1	ACTA1	RPGR	GATA2	LRBA	SMC1A	NUP160	DNASE1L3	C4A	SAMHD1	CDC73	MEN1	KCNJ6	CD2AP	LMF1	PLG	IFT172	EXTL3	MYH9	MEFV	PANK2	TLR4	XIAP	CLDN1	CD55	HAVCR2	TKT	SMARCD2	IL4R	PNPLA2	PTPN2	PKD2	GJB2	DNAAF4	ELN	LYZ	SLC39A4	UNG	CR2	ERCC5	SPIB	RFX5	SMARCC2	TNFRSF13C	NFKB1	NCKAP1L	FOXP1	SDR9C7	PLCD1	BLM	AP3B1	TBX19	CDK10	ACTC1	FOXP3	GLRA1	CLTRN	SPINK5	BICC1	ATOH7	UROD	CFHR5	IFNGR1	MYSM1	SMARCA2	LAGE3	MAF	DGKE	LMX1B	PRTN3	PIK3CD	COG6	CYP4F22	ADAMTS2	CYP11B1	HLA-DPB1	SDHC	SDHA	NSMCE2	MTTP	CCDC103	ANKRD11	PAPSS2	ANKRD55	UNC13D	CSF2RB	AMACR	TERT	IL23R	FOXD3	TBX2	PRKDC	GJB3	IVNS1ABP	BCS1L	GRHL3	ASXL1	AEBP1	CIDEC	C1QC	FGA	SLC6A19	DNAL1	GNPTAB	PLEC	MLXIPL	TNFAIP3	ARID2	AKT1	HBA1	GCGR	CD79A	TBC1D24	LBR	KCTD1	XYLT1	GJC2	TTC12	BTNL2	VPS33A	POFUT1	COL11A2	PSMB8	DOCK8	ZEB1	PGM3	CTNNB1	KMT2D	KIRREL1	GAS8	NOS1	CD3E	MPEG1	CYBB	IL7	CCT5	CD40LG	DLL1	DNAAF3	IL17RC	NSD2	ARVCF	TPM3	CREBBP	NOTCH2	IDH1	FCN3	SPEF2	LRIF1	RNASEH2B	SOX4	DNAI1	DKC1	SHOC2	BSCL2	HBA2	FCGR3B	ALOX12B	RAC1	GPHN	KDF1	DNAAF1	AGA	GTF2H5	NAA10	CRB2	PEPD	KRT1	GINS1	FAM111B	CARMIL2	PIK3R1	PI4KA	IKZF1	CCDC47	ZIC2	FAT4	SEMA4D	PAX1	DPF2	DLX4	LMBRD1	SETD2	STX1A	SLC9A3	RSPH4A	MEIS2	BMP4	ADAMTSL2	NEK10	HLA-C	MYH6	NGF	INAVA	PIEZO1	GBA	C3	JMJD1C	GJA1	SLCO2A1	GTF2IRD2	NEK9	FOXC2	DNAAF2	MSMO1	PRKCD	GATA6	IL21R	GJB4	DNASE1	APOL1	ZNF750	NUP205	TGFB2	CFAP45	KLRC4	COL4A5	IRF2BP2	ACTG2	LMNB1	PIGA	ZAP70	NCSTN	CD19	TRPC6	IDS	DNMT3B	DNAH11	TAP2	TNFSF11	HNRNPA2B1	CYBC1	MTAP	MT-TQ	MALT1	NPHS1	IL12A-AS1	CCDC40	DLK1	STUB1	RIPK1	POLA1	SMG8	SLURP1	MNX1	PDE8B	PNP	EIF4H	NKX2-5	AXIN1	MET	LRRC56	ERAP1	UBB	C1QA	FGFR1	PLA2G7	GORAB	TAPBP	MT-ND1	CYSLTR2	SHPK	MLX	ATP7A	IFIH1	RNU7-1	SMC3	TBX4	HSD3B7	IRF6	DBT	MASP2	CPLX1	STIL	MT-TF	SLC35A1	POLG	TKFC	SPTBN1	AP1S3	RSPH9	KDM6A	PSPH	SGCG	SCN9A	MSN	SERPINA1	MMACHC	LCP2	DNAH5	MIF	PTCH1	PRKACA	TTC37	GATA4	ARMC5	NAXD	PTCD3	ITGB4	PLCE1	HYOU1	RAB7A	ESR1	MT-TL1	DNAJB13	METTL27	DHCR7	TP53	BCOR	EDARADD	PRG4	FLNA	PKD1	SP110	GANAB	IRGM	IL37	ADAR	AP2S1	IL17RA	SPAG1	COL4A6	RBP4	IGF2R	SLC4A1	COG8	ATAD1	FKBP6	BRD4	SCNN1A	POMP	TPP2	NSD1	IL2RB	IRF5	ICOS	PIK3CA	TGDS	B4GALT1	CAT	ITCH	NFS1	SLC2A10	IGBP1	CLTCL1	VPS37D	IFNG	NLRP12	EP300	IARS2	HYAL1	TFE3	LIPN	KIF11	LRRC32	SLC29A3	APOA1	SCNN1B	IARS1	ZNFX1	ANK1	ARHGAP24	ORC6	PAX6	ST14	RNASEH2A	IKBKB	ADA2	ACP5	TNFRSF11A	AKR1D1	PIGG	ZMYND10	GFI1	ODAD2	SMARCAL1	HSPA9	TGM5	RELB	MMP1	RAG2	GLRB	LSS	UBAC2	ECM1	MTM1	SLC12A3	MDM4	SLC37A4	HIRA	CFI	MCIDAS	AP1B1	VIPAS39	AGPAT2	XPNPEP3	ARHGAP29	HPS1	FGF10	MYD88	LMNB2	IGSF3	MT-CO3	CCR1	BCKDHB	LEMD3	GAS2L2	SEC24C	NHP2	FBN1	APC2	EPB42	KIAA0586	FCGR2B	CCNO	MAGT1	RBCK1	MTHFD1	MORC2	PSMB9	BCL10	ATL1	MPDU1	OTULIN	PCYT1A	CHD7	RFXANK	IL2RA	RNF2	GJB6	FMR1	SF3B1	MAN2B1	JAGN1	KPTN	CD81	JAK2	UBE2A	ATM	FLT4	PDE11A	KRT74	TFG	CBL	FMO3	GPR35	HOXA13	HEPHL1	FGF3	C1QB	STK36	TBL1XR1	IL36RN	SLC35C1	WNT4	CD151	SDHB	TINF2	WDR1	EPG5	HLA-A	RPL11	RREB1	NDUFS3	SH3PXD2B	ZFAT	RBM8A	KIF12	CD4	TNPO3	FASLG	CYP7B1	TGFB3	LCK	COMT	MYO1H	BNC2	GIPC1	KYNU	ROR2	COPA	BCKDHA	ZBTB24	NELFA	MED12	PSMB10	RHOH	DZIP1L	SDCCAG8	AR	ODAD4	RRAS2	MYCN	DDR2	USP8	GTF2E2	LPL	FOXN1	CLCNKB	LAMA2	ITGB2	NADK2	MID1	SPTLC2	TFRC	ITGA7	OSTM1	TNFRSF1B	BCL7B	PRSS1	ARID1A	RIT1	HLA-DPA1	BIRC3	IL6	MYH11	SOX11	LHCGR	MED25	MAP3K20	SBDS	NXN	HMGCL	UBA1	CPA1	ATP6V1B2	IKBKG	BRCA1	COL5A1	EFEMP2	VPS33B	TP73	ENPP1	RFC2	MRTFA	ABCA3	PML	SLC27A4	FERMT3	TPM2	TNRC6B	IGHG2	CTBP1	COL2A1	KRT14	TEK	REV3L	IL12B	LTBP3	FLII	PCCA	SOX18	CDSN	KIT	CFAP410	ABCB1	ALDH3A2	PSMD12	F5	MT-ND4	GP1BB	NR3C1	DDX41	NBEA	CFAP221	C2orf69	APC	PLEKHM1	SRY	STING1	TRIM8	IRF4	SMARCAD1	CSTA	ZNF341	LIMK1	MMEL1	IRF8	CARD10	SRSF2	MNS1	SLC30A2	BACH2	CAPN5	KAT6A	RNF125	DDB1	ZNF699	EDAR	ERCC1	NSMCE3	BCL11B	RSPH3	CACNA1C	PGM1	EPM2A	LAMC2	PRSS2	PTPRO	NOTCH2NLC	IL10RA	C4B	IL6R	KIF15	MIA3	P4HA2	STXBP1	SMARCE1	GNB2	TLL1	ANLN	CST6	TBL2	TMC6	PARN	A2ML1	CYBA	NFIX	POLE	RARA	TMEM270	RASGRP1	IL10	STAT2	SRD5A3	C5	SEC23B	CITED2	CERS3	DNAH9	ORAI1	RNF113A	HMOX1	TOM1	P4HTM	NF1	SNAP29	CARD8	LAT	XDH	MST1	NME8	SULT2B1	IRF9	PKP1	IPO8	POLR3A	CIB1	GATA1	WRAP53	ANKFY1	INF2	CDH1
HP_PERISYLVIAN_POLYMICROGYRIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERISYLVIAN_POLYMICROGYRIA	SHH	GAS1	ADGRG1	MAGEL2	DISP1	SHMT2	NDN	GLI2	FOXH1	PTCH1	OCA2	DLL1	ZIC2	SNRPN	MTOR	TUBB2B	SRPX2	CDON	MICU1	FGF8	MAPK8IP3	TBC1D20	NODAL	STIL	TGIF1	PI4KA	TDGF1	RAB3GAP1	SIX3
HP_ABNORMAL_BRAIN_POSITRON_EMISSION_TOMOGRAPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BRAIN_POSITRON_EMISSION_TOMOGRAPHY	C9orf72	SUFU	TREM2	PSEN1	SMARCE1	COQ2	TMEM106B	NF2	APOE	PSEN2	BAP1	GRN	MAPT	SQSTM1	TRAF7	TERT	PDGFB	SMO	CHMP2B	VCP	SMARCB1	AKT1	PIK3CA
HP_IRON_ACCUMULATION_IN_BRAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRON_ACCUMULATION_IN_BRAIN	VPS41	PLA2G6	CP	VPS13A	DLAT	FA2H	TBCE	FTL	WDR45	PANK2
HP_IRON_ACCUMULATION_IN_GLOBUS_PALLIDUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRON_ACCUMULATION_IN_GLOBUS_PALLIDUS	VPS41	DLAT	FA2H	PLA2G6	FTL
HP_ABNORMALITY_OF_THE_PINEAL_GLAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PINEAL_GLAND	NR1H4	KANSL1	INSR	VAX1	BPTF	GALNT2	ATP8B1	PSMD12	NONO	ABCB11	ABCB4	WDR26	PNPLA2
HP_ABNORMAL_PINEAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PINEAL_MORPHOLOGY	KANSL1	INSR	VAX1	BPTF	GALNT2	PSMD12	WDR26	PNPLA2	NONO
HP_PINEAL_CYST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PINEAL_CYST	KANSL1	BPTF	GALNT2	PSMD12	WDR26	PNPLA2	NONO
HP_ABNORMAL_THALAMIC_SIZE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_THALAMIC_SIZE	SLC2A1	POMGNT1	POMK	GMPPB	EXOC7	FKRP	GSX2	POMT1	POMT2
HP_ABNORMAL_THALAMIC_MRI_SIGNAL_INTENSITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_THALAMIC_MRI_SIGNAL_INTENSITY	COX10	MFF	TRAF7	TERT	MTRFR	CP	SUFU	PDGFB	SMO	CLN8	TWNK	FTL	SMARCE1	SMARCB1	PTCD3	NF2	AKT1	POLG	BAP1	TREM2	GTPBP3	PIK3CA
HP_SMALL_BASAL_GANGLIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_BASAL_GANGLIA	NANS	SLC19A3	VPS13A	CYB5A	FDXR	CNTNAP1	TUBB3	TBCK	HIBCH	MT-ATP6	ADAR	CYB5R3	NUP62
HP_ABNORMAL_LARGE_INTESTINE_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LARGE_INTESTINE_PHYSIOLOGY	SLC44A1	BCR	ABCD1	COMT	VANGL1	HIRA	EIF2AK2	ARSA	HPSE2	FA2H	GPR35	SCN4A	ZEB2	RTN2	TBCD	TBX1	FLVCR1	FMR1	KY	MST1	NOP56	VCP	TP63	SEMA4D	C19orf12	ISL1	DSTYK	TCF4	SALL1	UBAP1	FUZ	CFAP43	GLA	LRIG2	DDHD2	ATRX	PSAP	DACT1	MAPK1	DAXX	ATP13A2	ARVCF	SEC24C	RREB1	ZFYVE26	GP1BB	LMNB1	UFD1	CRKL	PLP1	SLC9A6	JMJD1C
HP_ABNORMAL_SUBARACHNOID_SPACE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SUBARACHNOID_SPACE_MORPHOLOGY	GRIN1	ENG	MT-ND6	TGFBR1	IL1RAPL1	LOX	DCC	CACNA1I	MTRR	CLCN4	MRE11	MAT2A	PRICKLE2	SNRPN	ELN	ITGA2B	TGFBR3	CDH15	KIF1A	ZNF41	TSEN2	GDI1	CAMK2A	AIFM1	HIVEP2	NMNAT1	FTSJ1	L1CAM	CDH2	MT-TS2	DOCK8	PRKG1	DLG3	MT-TW	TTC26	PPP3CA	ALG12	GCDH	MID2	ACTA2	GP1BA	MT-TH	GDF2	GRIN2B	AHCY	COX16	SET	EEF1A2	ERBB4	THSD1	MYT1L	SYNGAP1	CACNG2	MT-CO1	SLC9A7	FRMPD4	RASA1	TGFBR2	ARX	MT-ND1	ALG13	DYNC1H1	RAB39B	MT-ND5	IDH1	CNKSR2	FBN1	STEEP1	SMAD4	MFAP5	F10	KDM5B	WAC	MPDU1	SETD1B	PLPBP	SMAD3	SLC13A5	CAMK2B	MED12L	AGTR2	TSEN34	KCNQ5	MBD5	WARS2	ZMYND11	DMD	CIC	ARHGEF6	MT-TF	TSEN15	TRPM3	SMAD2	DLL1	GP1BB	ASH1L	NBEA	IQSEC2	SEPSECS	CUX1	KIRREL3	CLTC	ITGB3	ACSL4	RAB11A	UPF3B	TGFB2	RPS6KA3	FOXE3	ACVRL1	TCF4	ANGPTL6	SYP	MT-CO3	CHAMP1	ALG11	CSNK2B	MYLK	DEAF1	COL3A1	MT-CO2	ZNF711	PTCHD1	ITGA2	TSPAN7	EPB41L1	BRSK2	TGFB3	NARS1	TSEN54	USP27X	TAOK1	HEY2	CD109	MT-TL1	MED12	ALG9	ZNF81	MT-ND4	ALDH7A1	PAK3	MYH11	MECP2	USP9X	ALG2	MT-TQ	HCFC1
HP_WIDENED_SUBARACHNOID_SPACE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDENED_SUBARACHNOID_SPACE	GRIN1	MT-ND6	IL1RAPL1	CACNA1I	MTRR	CLCN4	PRICKLE2	SNRPN	CDH15	KIF1A	ZNF41	TSEN2	GDI1	CAMK2A	AIFM1	HIVEP2	NMNAT1	FTSJ1	MT-TS2	DLG3	MT-TW	TTC26	PPP3CA	ALG12	GCDH	MID2	MT-TH	GRIN2B	AHCY	COX16	SET	EEF1A2	ERBB4	MYT1L	CACNG2	MT-CO1	SLC9A7	FRMPD4	ARX	MT-ND1	ALG13	DYNC1H1	RAB39B	MT-ND5	IDH1	CNKSR2	STEEP1	KDM5B	WAC	MPDU1	SETD1B	PLPBP	SLC13A5	CAMK2B	MED12L	AGTR2	TSEN34	KCNQ5	MBD5	WARS2	ZMYND11	DMD	CIC	ARHGEF6	MT-TF	TSEN15	TRPM3	DLL1	ASH1L	NBEA	IQSEC2	SEPSECS	CUX1	KIRREL3	CLTC	ACSL4	DOCK8	RAB11A	UPF3B	RPS6KA3	TCF4	SYP	MT-CO3	CHAMP1	ALG11	CSNK2B	DEAF1	MT-CO2	ZNF711	PTCHD1	TSPAN7	EPB41L1	BRSK2	NARS1	TSEN54	USP27X	SYNGAP1	TAOK1	MT-TL1	MED12	ALG9	ZNF81	MT-ND4	ALDH7A1	PAK3	MECP2	USP9X	ALG2	MT-TQ	HCFC1
HP_ABNORMAL_METABOLIC_BRAIN_IMAGING_BY_MRS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_METABOLIC_BRAIN_IMAGING_BY_MRS	MTRFR	MT-ND6	SDHAF1	NDUFS2	HSD17B10	CNP	GATM	MT-CO2	SUCLG1	MT-TH	POLR3A	NDUFB8	DNM1L	TBCK	COX16	CYP27A1	SLC6A8	SDHD	MT-TL1	MT-CO1	MT-TF	GALC	SCO2	SQOR	MT-ND1	MT-ND4	SURF1	CACNA1G	HPDL	NDUFAF3	ASPA	MT-ND5	GRM7	PSAP	SLC35A2	MT-TS2	KARS1	MT-TQ	SDHB	COG8	ACAT1	GAMT	ADORA2A	MT-TW	NGLY1	MT-CO3
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	TBCK	PSAP	GALC	SDHAF1	CNP	CACNA1G	NGLY1	SDHD	GRM7
HP_MILD_HEARING_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MILD_HEARING_IMPAIRMENT	PGM3	IL1RAPL1	MID2	ZNF711	PTCHD1	TSPAN7	CLCN4	AGTR2	USP27X	DPH1	DMD	ARHGEF6	MED12	MARS2	ZNF41	SLC9A7	FRMPD4	COL1A2	ZNF81	ARX	CTSK	GDI1	IQSEC2	PAK3	ALG13	MECP2	RAB39B	FTSJ1	ACSL4	UPF3B	USP9X	CNKSR2	STEEP1	RPS6KA3	HCFC1	DLG3	SYP	MFN2
HP_SEVERE_HEARING_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_HEARING_IMPAIRMENT	GJB6	RAF1	ALMS1	ATP6V1B2	GPSM2	COL1A2	TK2	CHSY1	GJB2	PTPN11	BRAF	TRIOBP
HP_PROFOUND_HEARING_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROFOUND_HEARING_IMPAIRMENT	EPS8	SLC12A2	PRPS1	RDX	PMP22	KCNQ1	SLITRK6	FGF3	KCNE1	KARS1	YARS1	CIB2	MYO15A
HP_FUNCTIONAL_ABNORMALITY_OF_THE_GASTROINTESTINAL_TRACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FUNCTIONAL_ABNORMALITY_OF_THE_GASTROINTESTINAL_TRACT	RERE	SLC6A3	IL12A-AS1	TARDBP	IL12A	KAT6A	MYO9A	WAS	GNA11	AGRN	TBCE	PYROXD1	CACNA1I	REL	NALCN	FCGR2A	KIT	CDKN2B	STUB1	RIPK1	MACF1	POLA1	RTEL1	JAK3	PRKCSH	FAH	MNX1	SKIV2L	MYH11	PCNA	YARS2	FLVCR1	CHCHD10	TGIF1	TNFRSF13B	TRAPPC11	PNP	ATXN1	EIF4H	JAG1	CYP27A1	PAK1	RET	UNC45A	SIX3	EXOSC5	KATNB1	TTC26	LIFR	RNASEH1	PTCH1	ERAP1	TWNK	UBB	ATRX	TECPR2	POLR3A	HTT	SRCAP	TWIST1	CDON	SLC5A7	EBF3	ERBB4	TRIP4	MT-ATP6	MYT1L	TBCD	RPL10	FGFR1	ALS2	MT-CO1	SPG7	CCN2	COLQ	GRHL2	MSR1	MT-ND1	ASAH1	GBA	DEF6	TAF1	POLG	TREX1	MLX	ARNT2	STAT4	SLC6A9	ERCC2	ATP7A	PSTPIP1	F8	SMC3	TBX4	SEMA3E	ERLIN2	ARV1	SLC52A3	EHMT1	CIITA	SQSTM1	MVK	GMNN	IL12RB1	PUS3	TXN2	MASP2	CENPT	CALR	ATP1A2	SHANK3	DNAJB6	STIL	MT-TF	SKI	KMT2C	GALC	KY	PSAP	SMC1A	ATP1A3	TGFBR1	NODAL	CRYAB	JAK1	KNSTRN	ASPA	PLP1	ABCC6	NOTCH3	CHRNA1	CHAMP1	ELANE	PSPH	CAV1	LAMB3	SRP54	ALMS1	BRAF	FUS	NFKBIA	NIPBL	SPG21	LRP5	TTC37	UBA5	DEAF1	NDUFAF2	MAPT	SOX5	EPCAM	ZIC2	IL10RB	POLG2	ATXN3	REPS1	ZSWIM6	IRF6	MEFV	TSEN54	CSPP1	SYT1	MEIS2	GBA2	FLNA	DISP1	CD109	MT-TL1	NRXN1	METTL27	SLCO2A1	SYT14	DHCR7	GABRB2	TGFBR2	NPC2	PIGN	DYRK1A	VAMP1	GP1BA	SNCA	POU2AF1	ALDH18A1	NCF4	SP110	STN1	PKHD1	GRIN1	SLC44A1	PTPN22	SPEN	NEDD4L	ADAT3	MYL9	LONP1	MYC	KAT6B	RAD21	PLAA	DAB1	IRGM	PLA2G6	COL13A1	IL37	NPHS1	GNAS	ATXN7	ITGA2B	CACNA1A	ELN	WNK1	IL21	TBX1	FERMT1	EGFR	GLUD2	SLC1A2	AP2S1	APC	F5	COL4A6	RABL3	VARS1	KCNA2	NGLY1	FARSB	AARS1	NUP214	CDC73	TDGF1	MYPN	IDH1	CTLA4	KCNQ3	PTS	SLC52A2	MSH2	NLRC4	CORIN	TNFRSF1A	PPP3CA	ATAD1	OCA2	FKBP6	BRD4	FGF8	CREBBP	TBK1	FLT1	IRF5	KCND3	DGUOK	SET	DOCK6	ACTL6B	MT-TK	GUCY2C	STAC3	RAI1	KCNK9	GAS1	FGB	RRM2B	MYLK	HMGA2	CDKL5	PNKD	BUD23	ANAPC1	WFS1	GCH1	HMBS	MSL3	DNAJC30	CLCN1	SLC2A10	PRKRA	ARX	SPTLC1	STX11	DLL1	MFF	SIAH1	VPS13A	SETD1B	NR4A2	FAS	KLHL41	RETREG1	CCND1	CCR6	ASCC1	VPS37D	AASS	DCLRE1C	FBN1	ERBB3	EP300	SATB2	FAM13A	C4A	GABRA5	RARS1	BRCA2	HACD1	KIF5A	TCF4	B4GALNT1	SCARB2	GP9	PDHA1	RAB11A	CRLF1	SLC1A3	GON7	MT-ND6	DLL4	CNKSR2	PARS2	MECP2	SHH	TSPYL1	NOD2	ACTA1	IARS1	KLHL40	ADGRG1	NF1	NECAP1	ABCD1	CLTC	HLA-B	ORC6	CLCN4	PLXND1	HNRNPK	COG4	HPDL	MATR3	GABBR2	F13A1	GLA	CDKN1B	CACNA1G	AGGF1	AFF4	PORCN	HLA-DRB1	PRF1	STAG1	SUPT16H	TPM2	LBR	SLC25A13	HDAC8	GFI1	PIEZO2	PRKCD	QDPR	SLC6A5	KIF1A	CTCF	CYP7B1	SCO2	CTBP1	SLC19A3	STAG2	BMPR1A	DDOST	CNTNAP1	LAMA3	TBP	SYNJ1	CHRNE	TFAP2A	LRP12	GFI1B	F13B	HLA-DQB1	KBTBD13	LIG3	PLCG2	MT-TW	NUP62	VWF	ALG12	AICDA	PRKCZ	NEB	GMPPA	EXT1	NEFH	ALDOB	MMP1	FCGR2C	DDIT3	GABRA2	ARPC1B	CDK4	MLH1	BRCA1	GLRB	MPL	SCUBE3	LRRK2	NEXMIF	GLI2	CBS	TNXB	OPLAH	ABCA3	FGFR3	UFD1	FTL	EDEM3	DNAJC13	F9	HLA-DQA1	UBAC2	NDUFA9	ECM1	SDHC	ARID2	EDN3	PIGT	LINGO1	PALB2	TTBK2	ORC1	ATXN2	DKK1	SYT2	PACS1	USP9X	PDGFRB	KLHL7	SLC37A4	HIRA	KCNAB2	CHAT	SMAD4	ATXN10	CIC	ARHGAP29	TSEN15	HPS1	WASHC5	PDGFRA	ARFGEF2	HCN1	STAT3	FGF10	AOPEP	NBEA	OCRL	GUCY1A1	STOX1	SEMA4A	DDC	PRPS1	UBR7	TP53	PARN	MT-CO3	TSC2	SETBP1	PDPN	MAP3K7	XYLT2	NOTCH1	CCR1	HGSNAT	GP1BB	DDHD2	NDUFB8	REEP1	MYL2	F7	PMS2	SLC25A22	ELP1	NDUFS1	ACTG2	APP	NDUFA6	SEC24C	ITCH	MAPK1	HIVEP2	TET2	TPM3	EXT2	ARF1	LTBP4	TCIRG1	PIGA	SLC12A2	COL7A1	APC2	AFF3	RUNX1	TGFB1	VPS11	CPOX	HSPG2	POGZ	SYNGAP1	CPLX1	SDHD	PRPH	BAP1	MT-TT	MED17	PIK3R5	RFXAP	CD3G	KIAA0586	MAP2K1	CELF2	USP7	MEGF10	MRPS25	SPTBN4	GRM7	SCN4A	KMT2A	GNB5	MT-TS2	NOTCH2NLC	ASCL1	PMP22	PHGDH	RECQL4	ASXL1	CLN8	MAP2K2	BCL10	TERT	ATL1	GDF2	MYORG	CISD2	RFXANK	BAZ1B	GABRG2	FMR1	SLC19A2	MAN2B1	EPRS1	KCNC3	WIPF1	JAK2	EDNRB	MT-ND5	PANK2	ACOX1	MT-TV	ERCC8	SOD1	CLMP	HTRA1	F10	SYK	NOP56	SELENON	CCDC22	TFG	PCGF2	ERBB2	CBL	COQ4	SEC23A	PLVAP	NBN	TRAPPC12	KCNQ5	GPR35	TAOK1	KIAA0319L	FCHO1	NUTM2B-AS1	MT-ND4	MED12L	C9orf72	GEMIN4	SPG11	SOX10	ASXL3	SLC35A2	ATN1	FGF13	TANGO2	RELN	TNFSF15	SLC35C1	STXBP2	PFN1	SEC31A	PEX16	RYR1	ZMYM2	SREBF1	FUZ	FOXG1	TK2	FOXH1	AAAS	MED12	SDHB	ITGA2	ERCC6	BRSK2	RPL11	GPIHBP1	DHDDS	MAP1B	ACVRL1	ENG	WT1	KRAS	SEMA3C	RREB1	IQSEC2	CDKN2C	CLIP2	NDUFS3	PRKCG	GTF2IRD1	UNC45B	NEU1	DALRD3	TNPO3	SACS	FASLG	UBE3A	TGFB3	COMT	IFNGR1	MYO1H	OPA1	PRNP	FLCN	GIPC1	DNM1L	KCNQ2	MT-ND3	CDH15	FXN	GTF2I	NCF1	MRPS34	ARSL	TIMM8A	DYSF	SCN3A	YY1	SUCLG1	NEK1	NTRK2	CDKN1A	DZIP1L	SZT2	AMER1	ADCY6	LMOD1	TOP3A	SLC25A1	HPCA	MT-TH	ACTB	MTRFR	MDM2	ATP13A2	HPRT1	CASP10	CACNG2	CHD7	DLG1	MPI	ATG7	LAMA2	NTRK1	COL5A2	POLR3B	YWHAG	LMAN1	SFTPA2	MID1	SPTLC2	SLC25A24	SH3KBP1	DSP	WAC	ITGA7	EWSR1	CAMK2B	ARHGAP31	PLEC	TERC	SLC1A4	RPS20	NECTIN1	ZMYND11	NTNG1	ZEB2	IRF2BPL	ACADVL	BCL7B	NRTN	SMG9	B2M	TRPM3	KCNB1	HPGD	ASH1L	TTC7A	AFG3L2	PPM1D	HLA-DPA1	C19orf12	AMACR	MYH7	TEK	WDR26	NEPRO	TP63	SLC25A4	POR	MT-CO2	STAT1	FGG	PRDM16	MYOT	GDNF	MAP3K20	SMAD3	ARID1B	MSX1	ATP7B	HOXB1	TRMT10C	NSD2	NDUFAF3	ZFYVE26	GRIN2D	MAGEL2	SNRPB	FIG4	TUBB4A	LRBA	FCSK	CAMTA1	ATP6V1B2	MYD88	TGM6	GREM1	FBXO7	DMPK	MEN1	SIGMAR1	POLR2A	PRICKLE2	SLC46A1	MLH3	ENPP1	TUBB6	TLR4	XIAP	EEF1A2	RFC2	IARS2	CAMK2A	CD55	PIEZO1	SERPINE1	SMO	MYH8	COL1A1	CARS2	BICRA	GCDH	VCP	IRX5	COQ2	SPIB	RFX5	FA2H	SON	ADD3	BLM	AP3B1	DYNC1H1	NONO	PI4KA	REV3L	LRPPRC	IL12B	FOXP3	GLRA1	CFTR	OPTN	MRPS28	KDM5B	APOE	COL2A1	SLC2A3	CYBC1	MADD	CYFIP2	FLII	HNRNPH2	GFPT1	GIGYF2	FLAD1	DCTN1	SLC13A5	ZAP70	SFTPC	FGFR2	DNM1	ADAM17	SRSF2	SALL1	PRTN3	PIK3CD	COG6	PLA2G4A	ADAMTS2	CHRND	SMARCA2	EIF4G1	TMTC3	FAN1	HLA-DPB1	EXOSC9	SDHA	ABCB1	CSNK2B	ANKRD11	MUC5B	PYCR1	UNC13D	SATB1	SETX	RLIM	IDH2	DAXX	DPP9	IL23R	IVNS1ABP	AGO2	GRHL3	XRCC1	AP3B2	NDE1	PPOX	EOGT	LMOD3	MLXIPL	STK11	TNFAIP3	HSD17B10	PLOD1	ABCD4	IL6	IRF4	FRG1	SRPX2	MCEE	TBC1D24	FGA	GRM1	SURF1	GDAP2	LIMK1	KIF23	XYLT1	TYMP	GNAQ	VPS33A	MPZ	MMEL1	MECR	PGM3	PUF60	CARD10	SFTPA1	NOS1	SPOP	TSC1	CD3E	NUS1	CHRNA3	PTEN	UBE4B	BACH2	LMX1B	SCN8A	ARVCF	MCFD2	SEC63	SNAP25	DCX	PHOX2B	SNCAIP	PAX7	F2	AR	RNF125	CDC6	CDK19	NF2	ACTA2	MINPP1	FCN3	UBTF	DDB1	NSD1	ZNF699	CHMP1A	MCOLN1	LAMB2	TREM2	PDP1	SETD2	ATXN8OS	TSEN34	MBD5	SAMD9	LAMC2	SLC6A8	SEPSECS	CUX1	KIRREL3	ITGB3	CTC1	GPHN	MYMK	TBC1D23	IL10RA	MMP23B	ECE1	IGHM	UBQLN2	PALLD	FARS2	P4HA2	MGAT2	STXBP1	CACNA1B	ATP11A	EPB41L1	GNB2	RHBDF2	NFKB2	GNAO1	TBL2	PIK3CA	ALDH4A1	CARMIL2	SEMA3D	TIMM22	WWOX	ADNP	FGFRL1	SCN9A	GNS	SPECC1L	FBXL4	PABPN1	IKZF1	CCDC47	TMEM270	CAVIN1	TSEN2	RASGRP1	NCAPG2	MITF	IL10	SEMA4D	ATL3	DLX4	CTHRC1	PMS1	STX1A	ATP6V1A	SLC9A3	ERMARD	CDKN2A	GRIN2B	TRAK1	ADAR	COL3A1	PSEN1	COL4A5	BMP4	TYROBP	SLC18A3	CASZ1	ADAMTSL2	LMNB1	PYGM	SIK1	SLC9A6	INAVA	JMJD1C	SHROOM4	GTF2IRD2	HSD3B7	ADH1C	MSH6	SH2B1	MT-ND2	WARS2	PDE8B	IL21R	SPART	FGF12	LETM1	CARD8	NPC1	HRAS	LUZP1	MST1	VPS35	DOCK8	IRF9	SSR4	TGFB2	IPO8	CTNS	KLRC4	COL5A1	NDUFS2	CTNNB1	GABRD	DPYSL5	NEUROD2	F11	COG7	EIF5A	VAPB	ALG9	VAC14	IDS	GJB1	RBPJ	MGME1	ORC4	NFIX	MT-TQ	ZC4H2	SERPING1	CDH1
HP_VENOUS_MALFORMATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VENOUS_MALFORMATION	PDCD10	ALX4	RASA1	PIK3CA	KRIT1	CCM2	GLMN	AKT1	TEK	MSX2
HP_HEART_BLOCK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEART_BLOCK	SCN5A	GPC3	GABRA3	AGXT	DMPK	ABCC9	MYBPC3	TMEM43	LRP1	SCN1B	TBX20	GNB2	SCN4B	MYOZ2	NKX2-5	LMNA	SLC4A3	BRAF	DES	MT-CYB	JUP	DYSF	GNB5	SEMA3A	NPPA	BTNL2	AKAP9	KCNJ2	CACNA1S	SCN10A	EXOSC5	CASQ2	CACNA2D1	EMD	KCNQ1	TTR	PKP2	GJA5	ACTN2	GPD1L	TTN	HCN4	LDB3	TRDN	MT-TL1	GYG1	PTPN11	MYH7	KCND3	CITED2	PEX7	SYNE2	CALM3	KCNJ5	CALM1	RRM2B	DEF6	ATP6V1A	ACADVL	RMRP	PRKAG2	TRPM4	MYH6	ACTC1	PRKG2	SGO1	SCN2B	RYR2	POMT2	CACNB2	MT-ATP8	PLEC	CTNNA3	RNASEH1	GATA6	PPP1CB	CACNA1D	KCNH2	ATP6V1E1	CACNA1C	SCN3B	KCNE3	FHL1	BANF1	KCNJ18	GNAI2	SCNN1A	TNNC1	KCNE5	MMP2	PIGU	SLMAP	GPC4	SYNE1	GATA4	MYL2	SLC25A20	TNNI3K	RAF1	TBX5	GPX4	BVES	MMP14	TLL1	CDH2	LEMD2	GJA1	GLA	RANGRF	CPT2	HLA-DRB1	PHYH	KCNJ8
HP_UPPER_EYELID_EDEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_EYELID_EDEMA	RIN2	MED12L	FRMD4A	KAT6A	SLC29A3
HP_CUTANEOUS_SYNDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTANEOUS_SYNDACTYLY	FGF9	ORC1	CHUK	HOXD13	DCHS1	IRF6	EP300	CACNA1C	DYRK1A	MCTP2	FIG4	SLC39A8	SMO	TBC1D24	NECTIN4	KCTD1	CHSY1	MECP2	NOG	CKAP2L	MEGF8	NECTIN1	LMBR1	PAX3	LRP4	GJA1	MYH8	XYLT1	CREBBP	SMARCAD1	BICRA	CDH11	RPL10	TMEM94	CDH1	FREM2	LEMD3	WDR19	KIAA1109	TWIST1	MEIS2	KIF7	BHLHA9	MAP3K20	CTNND1	ANKRD11	PIEZO2	RBM10	FGFR2	KAT6A	CCBE1	FAT4	CEP55	FRAS1	SVBP	GRIP1	BCOR	GLI3	ATP6V1B2	TP63	ROR2
HP_EPISODIC_HYPOKALEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISODIC_HYPOKALEMIA	CACNA1S	GABRA3	SCN4A	KCNJ18	KCNE3
HP_THORACIC_AORTIC_ANEURYSM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THORACIC_AORTIC_ANEURYSM	GANAB	COL5A1	MLXIPL	TGFB3	TGFBR1	NTNG2	SRCAP	HSPG2	LOX	ZMIZ1	B3GALT6	SPEN	TRMT1	RERE	HLA-B	MAT2A	ROBO4	SATB1	ELN	KDM4B	TGFBR3	TMEM270	GTF2I	NCF1	SLC12A2	PSMD12	KCNH1	MED13	RFC2	FMR1	DOCK3	MYH11	ENG	GATA5	LIMK1	NODAL	FBN2	MED27	EIF4H	CLCN3	HTT	UBR7	KMT2E	PRKG1	B3GAT3	MYPN	PKD2	COL1A1	FKBP6	PRKCZ	ACTA2	STX1A	GRIA4	ZMPSTE24	HPDL	LMNA	ALG9	KANSL1	BAZ1B	UBE4B	COL3A1	THSD1	SEMA3E	ACTL6B	CASZ1	TNRC6B	COL1A2	TGFBR2	BUD23	MYT1L	NOTCH1	EMC10	MLX	LMBRD2	COL5A2	IL12B	FBN1	DPYSL5	SMAD3	DNAJC30	PGM3	ERCC8	SLC2A10	MFAP5	TCF7L2	TANC2	CHST3	MID1	PUS7	PTPN23	BICC1	TRIP12	TPM3	GTF2IRD2	DNMT3A	SVBP	DDX6	SYNCRIP	BCAS3	KCNAB2	VPS37D	SMAD4	MADD	MAPK8IP3	KCNMA1	PPP1CB	PALS1	NKAP	BCL7B	AGO2	SMAD2	LUZP1	SMAD6	FBXW11	WDFY3	RNF2	WASF1	ACTL6A	TGFB2	FOXE3	NPR3	DNAJB11	BPTF	MMP23B	ANGPTL6	IPO8	NTNG1	TCF20	MYLK	PDPN	NKX2-5	MED12	SPTBN1	FBLN5	CNOT3	PRDM16	CARS1	CHD7	ERCC6	GABRD	SKI	HUWE1	PIGN	BCORL1	RLIM	HEY2	METTL27	KAT8	TBL2	CLIP2	SETD1A	BRF1	TRAPPC4	AFF4	GTF2IRD1	CCDC32	AEBP1	JARID2	HS2ST1	PKD1	ANKRD17	TPM2
HP_ECTOPIC_ANTERIOR_PITUITARY_GLAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTOPIC_ANTERIOR_PITUITARY_GLAND	PROP1	SOX3	POU1F1	FOXA2	HESX1	GLI2	OTX2	LHX4
HP_ANORECTAL_ANOMALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANORECTAL_ANOMALY	FKTN	DKC1	COMT	EPCAM	FCGR2A	RAD51	RIPK1	SALL4	GPC3	COX7B	FREM1	MNX1	GTF2I	FANCC	CEP120	NCF1	ROR2	EIF4H	TWIST2	PIGW	POLR1C	ELANE	AMER1	FANCF	SIX3	HCCS	ERCC4	GPC4	INTU	FANCD2	PITX2	PTCH1	VANGL1	DYNC2H1	TWIST1	FANCB	ZIC3	RAD51C	RRAS2	MYCN	IKZF3	GDF6	CTC1	CHD7	DEF6	ACADVL	FANCL	COL5A2	ITGB2	FRAS1	POGLUT1	DVL3	SEMA3E	MID1	CHD4	SLC25A24	DPYS	SDHD	POLE	RECQL4	MEOX1	FREM2	RPS20	SDHC	POLR1D	MAD2L2	FANCA	BCL7B	KMT2C	NODAL	STIL	AXIN2	KDM6A	DDX6	ABL1	RTEL1	DYNC2I1	POR	IL10RB	FGFR2	PIGV	PRDM16	ZIC2	ENG	PRKAR1A	RAC2	PIGN	NXN	GATA1	METTL27	MDM2	AKT1	MUTYH	BCOR	TGIF1	RPS6KA3	MSH3	EHMT1	SNRPB	FANCI	USF3	GREM1	TGFB1	CCNQ	LONP1	CHRM3	RERE	EXTL3	GLI3	POLD1	ELN	MLH3	USB1	USP9X	TBX1	FERMT1	EGFR	C2CD3	TGFBR2	RFC2	DACT1	POMT1	TDGF1	LIG4	CYBB	MSH2	KRAS	COL1A1	FKBP6	TNRC6B	CDH1	MS4A1	CR2	JAK3	PGAP2	CHEK2	OTUD5	GDF3	ICOS	KLLN	BUD23	TERC	MKKS	FANCE	DNAJC30	TCOF1	MYH11	CFTR	KIF7	BMPR1A	CD96	FLI1	CYBC1	DISP1	TTC7A	VPS37D	ADAM17	SALL1	SMO	EMC1	FAN1	FUZ	SMAD4	SDHA	SHH	PIK3CA	B3GLCT	PIGO	TERT	BRCA2	XRCC2	PRKCD	NDUFB11	THOC6	GRIP1	WNT7A	GP1BB	CDK8	BRCA1	PQBP1	WDR35	MLXIPL	STK11	RIPK4	CD19	CDON	LIMK1	TNFRSF13B	ISL1	HSPA9	POFUT1	UBR1	GAS1	KMT2D	DICER1	PRKCZ	DCHS1	TBX3	PTEN	UBE4B	MLH1	FKRP	PIGL	ARVCF	TNFSF12	HOXD13	CDH11	UFD1	MAMLD1	CCBE1	PSENEN	DDB1	ATP2A2	RFX6	DOCK8	HIRA	NFKB1	PALB2	KCNAB2	UPB1	NPM1	WASHC5	PDGFRA	FANCG	TP63	SEMA4A	NBN	FOXF1	IL10RA	MMP23B	CDC45	COL7A1	SETBP1	PDPN	NSUN2	PMS2	NAA10	MKS1	PORCN	SEC24C	PTDSS1	POMT2	TBL2	FGF8	SUZ12	NHP2	FOXC1	WNT3	PARN	LTBP4	MAFB	CHN1	CYBA	FANCM	SEC23B	HSPG2	SPEN	CTNND1	FAT4	RNF43	ESCO2	KEAP1	SPECC1L	RSPO2	NFKB2	INSR	TMEM270	BRIP1	DYNC2I2	PGAP3	SLX4	PMS1	STX1A	BAZ1B	MMP1	NCF2	CASZ1	TCTN3	POLR1B	CD81	MSH6	SYK	JMJD1C	GTF2IRD2	AR	CCDC22	GLI2	DLL1	NOP10	UBE2T	TNFRSF13C	PPP2R3C	MED12	LUZP1	NTHL1	SPINT2	SIN3A	ATN1	KIT	PKP1	CDKN2A	TP53	COL5A1	FOXH1	SDHB	RFWD3	TINF2	GABRD	SKI	WRAP53	PIGY	IFT80	RREB1	CLIP2	KRT5	GTF2IRD1	CAPN15	LARGE1
HP_MACULE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULE	RERE	KDM6B	RAF1	SETBP1	HLA-DRB1	DKC1	NTNG2	STK11	ZMIZ1	TRMT1	CDKN2B	SKIV2L	RAD51	BRAF	MTOR	CSTA	NRAS	KANSL1	KDM4B	FANCC	PSMD12	MED13	DOCK3	MAX	SMARCAL1	NF1	TSC2	SPRED1	MED27	MLH1	CLCN3	TWIST2	IGF2	POFUT1	CDKN1A	FANCF	TMC8	ERCC4	SLX4	FANCD2	KMT2D	MAN1B1	MMP2	PRKCZ	TOP3A	TGM5	TSC1	ZMPSTE24	NF2	CYBB	BRIP1	FANCI	IL7	STEAP3	UBE4B	ADAR	LZTR1	CTC1	NCF2	PTEN	PLEC	ACTL6B	TNRC6B	ESCO2	BRCA2	EMC10	FANCG	FANCL	LMNA	PSENEN	DPYSL5	POGLUT1	KDSR	FANCE	FANCA	CDKN1C	SNAI2	TANC2	TP63	KRT5	ERCC1	PLAG1	ATP2A2	PTPN23	NONO	KDM5C	TRIP12	SDHD	VHL	PTPN11	FGFR3	XPA	DDX6	BCAS3	PALB2	KCNAB2	SHOC2	NPM1	MADD	MAPK8IP3	SDHC	BUB1B	KCNMA1	MAD2L2	CBL	PALS1	GJB3	SDHB	COPB1	ST3GAL5	MSH2	KDM6A	FBXW11	WDFY3	SASH1	ACTL6A	BPTF	MMP23B	GPNMB	HLA-B	RTEL1	TCF20	TTC37	PDPN	MED12	PRDM16	GNB2	PRKAR1A	UBR1	IFNG	TMEM127	PIGN	BCORL1	RLIM	BUB3	AKT1	MAPK1	CREBBP	C1S	NHP2	CEP57	TMC6	FANCB	CCDC32	PARN	NCF4	XPC	ARL6IP6	MYT1L	ANAPC1	USF3	HS2ST1	ANKRD17	FANCM	SEC23B	GNAS	SRCAP	MEN1	HSPG2	SPEN	NCF1	CYBA	INSR	SATB1	DDB2	PIK3CA	IKZF1	USB1	MAP2K1	MAP2K2	PMS2	APC	SLC12A2	ERCC8	ACP5	RET	HTT	UBR7	KMT2E	RBBP8	KIT	TNFRSF1A	ACTB	SMARCAD1	SOX10	GRIA4	HMGA2	HPDL	ERCC5	KRT14	CDKN1B	ATM	COL3A1	KRAS	CASZ1	BLM	ELOVL4	KLLN	RASA1	TERC	REV3L	LMBRD2	RAD51C	MSH6	IL6	SIN3A	TCF7L2	PCNT	PHIP	GJA1	PUS7	SVBP	SYNCRIP	EPHB4	NOP10	UBE2T	NBN	PRKCD	PPP1CB	GJB4	AGO2	KITLG	LUZP1	ERCC3	ABCB6	BUB1	RNF2	WASF1	ZFHX4	DSTYK	HLA-DQB1	NTNG1	CIB1	TRIP13	EP300	SPTBN1	KIF1B	CNOT3	ERCC6	RFWD3	TINF2	GABRD	SKI	WRAP53	HUWE1	COL25A1	TERT	XRCC2	WBP11	PLXND1	ERCC2	CDKN2C	KAT8	SETD1A	SH3PXD2B	TRAPPC4	CYBC1	GNAQ	BRCA1	PORCN	IGF1	CWC27	C1R	JARID2
HP_KETOTIC_HYPOGLYCEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KETOTIC_HYPOGLYCEMIA	MRAP	STAR	MC2R	ACAD8	SLC16A1	TXNRD2	GYS2	ACADS	NNT	HNF1A	PHKB
HP_COUGH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COUGH	HYDIN	SCNN1G	PTPN22	WWOX	ZMYND10	PIK3R1	DRC1	BCOR	CCDC40	IRF4	DNAH5	DNAH9	LPIN2	SLC41A1	STAT3	BAP1	CCDC39	STK36	PARN	CFTR	HLA-B	PANK2	IKZF1	CD79A	RARA	ODAD2	DNAAF11	MT-CYB	CTLA4	IL17RA	DNAAF2	SPAG1	SFTPC	COL4A6	ODAD1	RNF6	DNASE1L3	DNAL1	COPA	GAS8	CLEC7A	TTC12	TERT	BTNL2	CCNO	HLA-DRB1	FARSB	ATL3	BLNK	TCF3	MPZ	SCNN1A	ABCA3	ACAT1	HLA-DQB1	CFAP298	EIF2AK4	FOXJ1	PML	DNAAF4	DNAI2	ODAD4	LRRC56	SFTPA1	ATL1	STAT5B	DNAAF5	NOS1	RPGR	TSC1	RSPH4A	RSPH1	DNAAF3	IL17RC	FARSA	CCDC65	COL4A5	NABP1	OFD1	MARS1	IL17F	GBA	MUC5B	POMT1	HLA-DQA1	SPEF2	RTEL1	DNAH1	SFTPA2	SPTLC1	SPTLC2	DSP	NUMA1	TFG	LRRC8A	DNAI1	IGHM	RSPH3	MCIDAS	PRKAR1A	TERC	FAM13A	GAS2L2	CCDC103	PRTN3	CFAP300	PMP22	HLA-DPA1	RSPH9	SLC11A1	TBL1XR1	CRLF1	DNAAF6	CFAP52	HLA-DPB1	DNAAF1	IRF2BP2	TSC2	SCNN1B	NEK10	P4HA2	CSF2RA	IL2RG	ODAD3	SLC34A2	NPM1	ATP11A	FIP1L1	CSF2RB	TGFBR2	DPP9	DLEC1	DNAJB13	DNAH11	IGLL1	EPOR	TRAF3IP2	NME8	NKX2-1	RFC1	ZBTB16	CD79B	CFAP221	SP110	STN1
HP_PROFOUND_GLOBAL_DEVELOPMENTAL_DELAY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROFOUND_GLOBAL_DEVELOPMENTAL_DELAY	GRIN1	MFF	PEX1	SLC12A2	PEX14	PTPN23	CRIPT	TBCK	ATRX	PEX11B	PRUNE1	UNC80	ZNF335	DENND5A	FDFT1	SLC39A8	KCNQ2	PEX2	PRPS1	PEX3	LIPT2	PLEKHG2	PEX6	ARX	PEX19	PEX10	PEX13	OPA1	RELN	PIGU	PEX5	KATNB1	FGF13	PEX12	PEX26	SETBP1	NDE1	PSAT1	LIAS	TELO2	GRIN2A	COG7	WDR4	GLYCTK	FARS2	PEX16	SLC9A6	ASNS	PARS2
HP_PAPILLOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAPILLOMA	SEC23B	SDHD	PIK3R1	NRAS	XPA	LRRC8A	IGHM	DOCK8	TPP2	DCLRE1C	IL7	SDHC	TP53	DDB2	PTEN	CD79A	HRAS	ERCC3	ATP2A2	IKBKG	BLNK	TCF3	TMC8	STK4	FLT4	CIB1	CXCR4	PIK3CA	ERCC5	MSH3	SDHB	ERCC4	ERCC2	AKT1	IGLL1	TMC6	IVNS1ABP	KLLN	XPC	PORCN	FCN3	ECM1	CD4	CD79B	USF3	CARMIL2
HP_UNILATERAL_CRYPTORCHIDISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNILATERAL_CRYPTORCHIDISM	XYLT2	NFIX	NFIB	RNF135	INSL3	SRY	ADARB1
HP_ABDOMINAL_OBESITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABDOMINAL_OBESITY	PRKAR1A	PRKACA	SIM1	PDE11A	LIPE	ARMC5	RNPC3	CCDC28B	NDN	CDH23	HERC2	ARL6	DYRK1B	USP8	GNAS	NKAP	SNRPN	BLM	NPAP1	PDE8B	MAGEL2	CUL4B	SNORD116-1	PWRN1	PWAR1	BBS1	MKRN3	SNORD115-1	AIP	MTTP	ZPR1
HP_SHORT_PALPEBRAL_FISSURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_PALPEBRAL_FISSURE	RTL1	FANCM	MOGS	AFF3	DONSON	DCHS1	SOX9	RAD51	SMAD4	KANSL1	SMARCA2	SMOC1	USP9X	FANCC	BRIP1	LARP7	PIEZO2	KMT2A	SOX6	ZMPSTE24	FANCF	ERCC4	KAT6B	SLX4	UGDH	FANCD2	CREBBP	RBM10	LIFR	TUBB	SMPD4	RBPJ	KCNJ2	ZNF148	STAC3	SALL4	MYCN	MEG3	PUF60	LMNA	KRAS	ERMARD	MADD	HUWE1	FANCL	RAD51C	FANCE	THOC6	DDB1	SLC2A10	SNX14	CHD4	SLC25A24	ORC1	BCL11B	UBE3B	HNRNPH2	TBX1	AUTS2	CLTCL1	PALB2	EP300	UBE2T	MAD2L2	SOX11	FANCA	KCNJ5	FANCG	TBX15	ALX4	WAC	TMEM107	KIF15	GJA1	TXNL4A	BPTF	POLR1A	B3GLCT	NUAK2	DLK1	RFWD3	MAPRE2	BRCA2	XRCC2	COG7	MUSK	CEP57	PPP1R12A	FANCB	MAGEL2	FAT4	BRCA1	CDK13	MAFB	FANCI	PRMT7	CHN1	EXOSC2
HP_ABNORMAL_BRAINSTEM_MRI_SIGNAL_INTENSITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BRAINSTEM_MRI_SIGNAL_INTENSITY	MTRFR	ETHE1	NDUFB3	NDUFS7	NDUFA1	NDUFV2	NDUFA6	NDUFB9	TMEM126B	NDUFAF5	NDUFS6	NDUFS8	NDUFS3	MT-ND1	NDUFAF4	GTPBP3	CCM2	NDUFB11	NDUFV1	NDUFAF1	TIMMDC1	SLC19A3	PDCD10	AIFM1	RANBP2	NDUFAF2	FOXRED1	NDUFAF8	KRIT1	NDUFA11	MT-ND3	NDUFS2	LAMA2	NDUFAF3	NDUFS1	NDUFS4	NUBPL	NDUFB10	MT-ND2
HP_FOCAL_T2_HYPERINTENSE_BRAINSTEM_LESION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_T2_HYPERINTENSE_BRAINSTEM_LESION	NDUFB3	NDUFS7	NDUFA1	NDUFV2	NDUFA6	NDUFB9	TMEM126B	NDUFAF5	NDUFS6	NDUFS8	NDUFS3	MT-ND1	NDUFAF4	CCM2	NDUFB11	NDUFV1	NDUFAF1	TIMMDC1	PDCD10	NDUFAF2	FOXRED1	NDUFAF8	KRIT1	NDUFA11	MT-ND3	NDUFS2	NDUFAF3	NDUFS1	NDUFS4	NUBPL	NDUFB10	MT-ND2
HP_ABNORMAL_BASAL_GANGLIA_MRI_SIGNAL_INTENSITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BASAL_GANGLIA_MRI_SIGNAL_INTENSITY	MT-TL1	MFF	ETHE1	TACO1	VPS11	NDUFAF6	NDUFV2	NDUFA13	MT-ND2	ASPA	NDUFA4	MT-ND3	NDUFS3	NDUFS4	MT-ND4	SDHA	PET100	SPG11	MT-ATP6	SUCLG1	NDUFA9	GLB1	NDUFS7	PDHA1	NDUFAF5	MT-ND6	NDUFA10	NDUFAF2	GCDH	NDUFS2	SLC30A10	COQ2	NDUFA2	PRNP	LIPT1	NDUFS1	FOXRED1	ECHS1	MT-TK	GTPBP3	SURF1	COQ8A	MT-ND5	MTFMT	MICU1	MT-TW	SLC19A3	PDSS2	NDUFA12	LRPPRC	COX15	NDUFV1	ALG2	MT-TV	GLI3	NADK2	FASTKD2	NDUFS8	MT-ND1
HP_ABNORMAL_NEURON_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NEURON_MORPHOLOGY	CFAP410	SPG7	FIG4	PRKAR1B	MAPT	TARDBP	ALS2	PRPH	SPTLC1	SIGMAR1	PNPLA6	SETX	PIK3CA	VCP	TAF15	CYLD	ANG	TREM2	PON1	SOD1	CHCHD10	TYROBP	CHMP2B	TFG	CEP126	ATXN2	OPTN	VRK1	CCNF	ALDH18A1	DCTN1	PSEN1	GLT8D1	SMN1	PON3	TBK1	HNRNPA2B1	IGHMBP2	NEFH	GLE1	POLR3A	ERBB4	FUS	C19orf12	TUBA4A	HNRNPA1	ASAH1	NEK1	PON2	CNTNAP2	VPS13D	ZNF335	SMN2	PFN1	TRPM7	PPARGC1A	ERLIN2	AKT3	SQSTM1	SPG11	UBA1	MATR3	C9orf72	GBE1	SCP2	PLEKHG5	POLR3B	ANXA11	CPLANE1	UBQLN2	EPHA4	KIF5A	DAO	UNC13A	TMEM106B	VAPB	RBM28	VPS41	TIA1	GRN	ATXN3
HP_CEREBRAL_WHITE_MATTER_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_WHITE_MATTER_ATROPHY	ALG11	HSD17B4	TRAPPC11	OPA1	MYL9	PLAA	POLR3K	VPS41	STUB1	ERCC6	IBA57	EMC1	ATXN2	MAG	DPM2	AIMP1	DNM1L	FA2H	BCAP31	GFM2	ALDH18A1	ATP8A2	ALG3	IRF2BPL	L2HGDH	USP7	HACE1	MAN2B1	DCX	FAM126A	LMNB1	ASPA	COG5	GBA2	SLC35A2	IDH1	FAR1	ERCC8	CLN5	PEX16	CACNA1E	NDUFA8	PHGDH
HP_ORTHOPNEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORTHOPNEA	FLNC	CHRND	GATA4	CHRNB1	SCN4A	TNNI3	MYPN	TTN	TNNT2	CITED2	TBX20	CHRNA1	TLL1	GATA6	AK9	DOK7	RAPSN	MUSK	KIF20A	CHRNE	AGRN	LRP4	COL13A1	MYH6	ACTC1	NKX2-5
HP_WIDENED_CEREBELLAR_SUBARACHNOID_SPACE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDENED_CEREBELLAR_SUBARACHNOID_SPACE	TSEN15	TSEN54	TSEN34	TSEN2	SEPSECS	NMNAT1
HP_WIDENED_CEREBRAL_SUBARACHNOID_SPACE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDENED_CEREBRAL_SUBARACHNOID_SPACE	TTC26	MT-CO1	MT-TF	ALG12	MT-ND6	MT-ND1	MT-ND4	MT-CO2	MT-TH	MT-ND5	IDH1	MT-TS2	MT-TQ	NARS1	MT-TW	MT-CO3	MT-TL1
HP_ABNORMAL_PLACENTAL_SIZE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PLACENTAL_SIZE	MEG3	DLK1	MKS1	RTL1	PHGDH	MUSK	LMNA	HSPG2	TTC37	HMGA2	ZMPSTE24	IGF2	IGF1	CDKN1C	PLAG1
HP_NEONATAL_ASPHYXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEONATAL_ASPHYXIA	SLC27A4	MTMR14	PLPBP	BIN1	RNF168	DNM2	ALDH7A1	GALK1	SLC13A5	SHPK	RYR1	SMARCA2	HSD3B2	MYF6
HP_ABNORMAL_ARM_SPAN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ARM_SPAN	DLG4	COL9A2	MAF	APC2	SETD2	TGFB3	COL9A1	NSD1	TRAPPC2	COL9A3	FBN1
HP_INCREASED_ARM_SPAN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_ARM_SPAN	DLG4	APC2	SETD2	TGFB3	NSD1	TRAPPC2	FBN1
HP_ABNORMAL_CILIARY_BODY_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CILIARY_BODY_MORPHOLOGY	GNAQ	BAP1	LAMB2	CYSLTR2	GNA11	SF3B1
HP_NEOPLASM_OF_THE_EAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_EAR	APC2	KARS1	VHL	HRAS	SIX1	SPRED1	NF2	NKX2-1	EYA1	SETD2	CHRNG	NSD1	IPO8	SYK	DDR2
HP_KINKED_BRAINSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KINKED_BRAINSTEM	POMT1	KIAA1109	FKTN	POMT2	FKRP	LARGE1
HP_INCREASED_CUP_TO_DISC_RATIO	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CUP_TO_DISC_RATIO	CYP1B1	TRAPPC12	COL18A1	MYOC	ASB10
HP_NARROW_JAW	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_JAW	SLC18A3	VAMP1	CHAT	SLC25A1	SNAP25	SYT2	CCNK	MYOD1	MYO9A	AGRN	SLC5A7	COL13A1
HP_BROAD_JAW	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BROAD_JAW	ANO5	SNIP1	SH3BP2	LRP5	AIP	GPR101
HP_ANISOMETROPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANISOMETROPIA	SLC35A2	RERE	AP1G1	ZFHX4	CLCN3	COL25A1	KRAS
HP_CORNEAL_ULCERATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORNEAL_ULCERATION	NTRK1	GJB2	MTTP	KIFBP	TAT	UROS	FGF10	UROD	FGFR3	GATA1	ZMPSTE24	FOXC2	LMNA	ERCC6	RIPK4	ERCC8	GSN	ELP1	FGFR2	NGLY1	PRDM12
HP_IRIS_TRANSILLUMINATION_DEFECT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRIS_TRANSILLUMINATION_DEFECT	CPAMD8	BLOC1S5	DCT	OCA2	MC1R	C1QTNF5	CHRDL1
HP_ABNORMAL_NASAL_BASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NASAL_BASE	ABCA5	SOX11	LIFR	SOX4	SNX14	SMARCE1	METTL5	SMARCA2	SMARCB1	AUTS2	ARID2	ARID1B	SMARCD1	SMARCC2	SMARCA4	TBC1D24	USP9X	ARID1A	BCORL1	SIN3A	DPF2	SLC26A2	FIG4	EXOSC2	ATP6V1B2	VAC14
HP_WIDE_NASAL_RIDGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WIDE_NASAL_RIDGE	HNRNPK	AP4M1	MSL3	ALX4	TBL1XR1	SUZ12	RPL10	METTL5	POLR3A
HP_HYPOPLASTIC_FEMALE_EXTERNAL_GENITALIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_FEMALE_EXTERNAL_GENITALIA	SLC25A24	ORC1	CCNQ	POR	TP63	ESR2	FZD2	GAD1	HDAC8	GMNN	ORC4	CDC6	RAD21	ROR2	NDN	SNRPN	RIPK4	IRF6	POC1A	HERC2	FGFR2	WNT5A	RAC3	DVL1	NIPBL	RAB3GAP1	CTCF	TBC1D20	PWRN1	RAB3GAP2	SMARCA2	MKRN3	AR	ECEL1	SNORD115-1	OCA2	VAC14	UBE3B	ACTB	MAGEL2	SIM1	DVL3	B3GLCT	BRD4	SETBP1	RAB18	CHD7	NXN	ORC6	SEMA3E	PORCN	CDT1	NPAP1	SNORD116-1	SMCHD1	PWAR1	CDC45	SMC1A	FIG4	SMC3
HP_NONCOMPACTION_CARDIOMYOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NONCOMPACTION_CARDIOMYOPATHY	MIB1	RNU4ATAC	SDHD	RYR2	SDHB	NONO	SDHA	MYSM1	MYL2	MYOCD	DTNA	SDHAF1	MLYCD	DNAJC19
HP_MYOCARDITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOCARDITIS	IRF4	GPX4	PPA2	VHL	SLC2A10
HP_RETINAL_VASCULAR_TORTUOSITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_VASCULAR_TORTUOSITY	LRP5	MT-ND4L	ETHE1	MLXIPL	GTF2IRD2	FZD4	COMT	SELENOI	MT-ND6	COL4A1	HIRA	MT-CO3	VPS37D	IFT172	MT-CYB	NDUFS2	MT-ND5	MT-CO1	MT-ND1	ELN	BCL7B	TMEM270	GTF2I	TBX1	NCF1	RFC2	DGCR6	MT-ATP6	LIMK1	DNAJC30	EIF4H	MT-ND4	PAX6	FKBP6	STX1A	CENPF	MT-ND2	BAZ1B	DGCR8	WT1	DGCR2	ARVCF	SEC24C	RREB1	METTL27	TBL2	CLIP2	NDP	GP1BB	BUD23	UFD1	GTF2IRD1	NEK1	ESS2	JMJD1C
HP_SKIN_APPENDAGE_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_APPENDAGE_NEOPLASM	CTNNB1	APC	DICER1	CREBBP	GJB2	WNT10A	PTEN	FLCN	GJB6	MLH1	SEC23B	MSH2	KEAP1	EP300	KLLN
HP_HAIR_FOLLICLE_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAIR_FOLLICLE_NEOPLASM	GJB6	SEC23B	GJB2	KLLN	PTEN
HP_SMALL_INTESTINAL_DYSMOTILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_INTESTINAL_DYSMOTILITY	TYMP	RRM2B	CPOX	MYO1H	POLG	LIG3
HP_HEPATIC_BRIDGING_FIBROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEPATIC_BRIDGING_FIBROSIS	RINT1	KIF12	LIPA	USP53	ATP6AP1	FADD
HP_ABNORMAL_SCROTAL_RUGATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SCROTAL_RUGATION	TOE1	SOX9	SRY	MINPP1	NR5A1
HP_OVOTESTIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVOTESTIS	HCCS	SRY	COX7B	NDUFB11	RSPO1	WNT4
HP_ABNORMAL_GERM_CELL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GERM_CELL_MORPHOLOGY	DNAH8	ARMC2	PPP2R3C	DPY19L2	TTC29	CFAP69	ACTL9	NANOS1	DNAH10	PMFBP1	SUN5	CATIP	SPATA16	CDC14A	TSGA10	FSIP2	DNAH2	DNAH1	DZIP1	CFAP44	CFAP70	CFAP47	IFT74	CFAP251	CFAP43	CEP112	GBA2	SEPTIN12	KLHL10	FSHB	CFAP65	SPEF2	CFAP58	BRDT	DNAH17	CFAP91	QRICH2
HP_ABNORMAL_SPERM_HEAD_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SPERM_HEAD_MORPHOLOGY	ARMC2	SUN5	PMFBP1	DPY19L2	CFAP70	TTC29	CFAP69	ACTL9	CEP112	NANOS1	GBA2	CATIP	SPATA16	TSGA10	BRDT	DNAH17	CFAP91
HP_ABNORMAL_SPERM_TAIL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SPERM_TAIL_MORPHOLOGY	DZIP1	DNAH8	ARMC2	CFAP44	CFAP70	TTC29	CFAP47	IFT74	CFAP251	CFAP69	CFAP43	NANOS1	DNAH10	CATIP	CFAP65	SPEF2	CFAP58	FSIP2	DNAH2	DNAH17	CFAP91	DNAH1	QRICH2
HP_ACEPHALIC_SPERMATOZOA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACEPHALIC_SPERMATOZOA	PMFBP1	SUN5	TSGA10	BRDT	CEP112
HP_ABNORMAL_MALE_REPRODUCTIVE_SYSTEM_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MALE_REPRODUCTIVE_SYSTEM_PHYSIOLOGY	HYDIN	SACS	FANCM	AR	MECP2	CCDC40	CDKN2B	RAD51	ABCD1	GBA	TXNRD2	PARK7	CFTR	TERB1	DNAAF5	RNF212	GTF2I	FANCC	SOX3	NCF1	DNAAF2	DCAF17	EIF4H	CDKN1A	WFS1	FANCF	BAP1	ERCC4	FANCD2	AURKC	ODAD4	LRRC56	SMARCE1	NDNF	HSD3B2	ALG9	RSPH1	CHD7	BRCC3	SLC29A3	TRAF7	OFD1	WT1	EIF2S3	FGFR1	CATSPER2	FANCL	DAZ2	DUSP6	BRDT	DNAH1	LHB	GNRHR	CYP17A1	STRC	RSPH9	MAD2L2	RTN2	FANCA	BCL7B	HS6ST1	CFAP300	SCP2	NDP	SRY	ALMS1	SPEF2	NANOS1	C14orf39	DDX3Y	PRY	TDRD9	DNAJC6	TEX14	LHCGR	MEIOB	NSMF	ODAD3	PODXL	POR	FLRT3	SYCP2	PRKAR1A	DNAJB13	HNF1B	USP9Y	TERT	FGF8	TEX11	METTL27	PDGFB	SOX10	CFAP298	FANCB	FANCI	LRRK2	PKD1	PIK3CA	GANAB	AIRE	HEXB	PRKN	TACR3	DBH	M1AP	VAMP7	CISD2	HBB	SOX9	DNAH5	ZFPM2	IFT172	DCC	NR0B1	ZMYND15	CCDC39	ELN	DNAAF11	FMR1	FSHB	SPAG1	ERCC8	ODAD1	RFC2	VPS13C	RBMY1A1	PROKR2	HJV	PKD2	NR5A1	DNAAF4	TTR	FKBP6	TEX15	COQ2	HFE	DHH	CCDC65	VCY	CDH23	POLA1	BLM	CCDC141	WWOX	CFAP70	BUD23	CFAP47	IFT74	CEP112	GBA2	RAD51C	FANCE	DNAJC30	KISS1R	TFR2	BICC1	CNBP	BMP2	VPS37D	POC1A	CLDN2	GAS2L2	SYCE1	DAZ3	SUN5	HAMP	AIP	ODAD2	DNAJB11	SNCA	CFAP410	KISS1	TAC3	KLHL10	ADGRG2	PROK2	ERCC6	DNAH2	BRCA2	XRCC2	RPS4Y2	CACNA1G	NR3C1	BRCA1	CFAP221	DNAH17	CFAP91	WDR11	TSPY1	MLXIPL	ZMYND10	ARMC2	DRC1	PMFBP1	IRF4	FGF17	DZIP1	TTC12	SLC40A1	PINK1	LIMK1	SPRY4	STAR	ANTXR1	CFAP69	GAS8	NF2	DNAH10	STEAP3	DNAAF3	FEZF1	SMO	DAZ1	DAZ4	SOHLH1	AKT1	ERCC1	DNAH8	DNAI1	RSPH3	MCIDAS	PALB2	ATXN8OS	SEMA3A	NNT	FANCG	OCRL	GUCY1A1	SPINK2	SMARCB1	CFAP65	CDY1	DNAAF1	SUFU	IL17RD	MCM8	TTC29	ANOS1	TBL2	CATSPER1	STK11	CFAP58	ANAPC1	PIGA	DNAAF6	HSFY1	KIT	CATIP	DNAH9	ANK1	STK36	GATA4	TMEM270	BRIP1	MAP3K1	DNAL1	CCNO	HESX1	UBAP1	FOXJ1	SLX4	STX1A	KDM5D	RPGR	RSPH4A	CDKN1B	SYCP3	BAZ1B	TAF4B	LMNB1	GNRH1	MRAP	ATM	GALC	DNAI2	GPR101	GTF2IRD2	DMRT3	HTRA2	UBE2T	MEN1	BCL10	PNLDC1	CCDC103	STAG3	BPY2	SYNJ1	SPAG17	CFAP45	CTNS	NEK10	DHX37	TERB2	RFWD3	UCHL1	FGFR3	CEP19	MC2R	CDKN2C	CLIP2	DNAH11	GTF2IRD1	NME8	CDY2A	PRY2
HP_ABNORMAL_LABIA_MINORA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LABIA_MINORA_MORPHOLOGY	ORC1	POR	FZD2	GAD1	ORC4	CDC6	NDN	ATIC	SNRPN	HERC2	FGFR2	WNT5A	KAT6B	RAB3GAP1	GMNN	TBC1D20	PWRN1	RAB3GAP2	MKRN3	SNORD115-1	OCA2	ACTB	MAGEL2	SIM1	SETBP1	RAB18	DVL3	ORC6	CDT1	NPAP1	ESCO2	SNORD116-1	PWAR1	DVL1	CDC45	ZFPM2
HP_ABNORMAL_LABIA_MAJORA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LABIA_MAJORA_MORPHOLOGY	SLC25A24	ORC1	AR	POR	TP63	ESR2	FZD2	GAD1	HDAC8	GMNN	ORC4	CDC6	RAD21	ROR2	RIPK4	LIPE	IRF6	FGFR2	WNT5A	DVL1	NIPBL	MYH3	CTCF	ECEL1	RAB3GAP2	VAC14	UBE3B	CHRNG	BRD4	SETBP1	DVL3	HSD3B2	B3GLCT	NR5A1	CDT1	SMCHD1	PMM2	CDC45	SMC1A	FIG4	ORC6	SMC3
HP_ABNORMALITY_OF_THE_UTERINE_CERVIX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_UTERINE_CERVIX	CXCR4	COL5A2	COL1A1	COL3A1	PLG	STK11	AR	CDKN1B	SRY	COL5A1
HP_ABNORMAL_MOTOR_EVOKED_POTENTIALS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MOTOR_EVOKED_POTENTIALS	SACS	STUB1	NEFL	GJC2	CPT1C	CYP27A1
HP_HANDGRIP_MYOTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HANDGRIP_MYOTONIA	SCN4A	PURA	HINT1	ACTA1	CLCN1
HP_EURYBLEPHARON	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EURYBLEPHARON	DVL1	ACTB	ACTG1	CTNND1	DLX4	WNT5A	FZD2	CDH1	DVL3
HP_ESODEVIATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ESODEVIATION	KDM6B	UNC80	MYO9A	AGRN	ZEB2	ADGRG1	RTL1	NDN	TMEM216	TRIT1	DPM1	KCNMA1	DYRK1A	ZEB1	KIDINS220	PTEN	SNRPN	USP7	VAMP1	APC	DDOST	PPP2R5D	OFD1	SYT1	ATAD3A	AHDC1	FAM149B1	PAK1	COL8A2	PIGW	MED12	COG8	ERCC3	B3GAT3	EXOSC5	TENM3	SATB2	PGAP3	PHGDH	KIF21A	MPLKIP	GRM1	SLC25A1	KIAA0753	VSX1	RNASEH1	SLC5A7	COL12A1	ARHGAP31	AHCY	KIF7	PGAP2	RRAS2	NTNG2	PUF60	RNF113A	SOBP	SON	CLP1	SLC18A3	PIGL	GTF2E2	NEXMIF	SNAP25	MAGEL2	COL13A1	HPDL	KAT6A	HUWE1	PMM2	COL6A1	DDB1	GNA14	NR2F1	GBA	CHST3	LGI4	CHMP1A	SIAH1	GALC	TCTN3	KAT8	SYT2	MADD	ATOH7	MEG3	NALCN	PDE6D	TBX1	SEC23A	ATP1A2	LAGE3	LMNB1	PIGO	HERC2	CHAT	SREBF1	CYB5R3	IARS2	DLK1	IRF2BPL	PIGV	COL6A3	CLCN3	EMC1	MYOD1	NCDN	ATP1A3	GRHL2	PWRN1	PIGT	TUBB3	POU4F1	RRM2B	CLCN6	MBD5	RORA	CACNA1A	SLC1A3	TBC1D23	SLC35C1	ADAT3	COL11A1	MKRN3	SNORD115-1	COL4A2	CPLANE1	SALL2	TOPORS	BLOC1S3	BPTF	SOST	TMEM222	GTF2H5	HMGB3	PDE4D	TARS1	GRID2	TELO2	RERE	ZSWIM6	NEUROD2	SCN8A	PIGY	PIGN	OVOL2	PPP1R21	GLRB	HOXB1	ALG9	NPAP1	PEX5	ERCC2	CYB5A	SNORD116-1	COL6A2	DPP6	PWAR1	AP1G1	ALG2	CRB1	AMMECR1	PYCR2	FBN1	SLC38A8
HP_ABNORMAL_MYELOID_CELL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MYELOID_CELL_MORPHOLOGY	MYSM1	UBA1	KIF23	DDX41	SLC19A1
HP_EXODEVIATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXODEVIATION	KDM6B	TRAPPC11	ACADSB	ADNP	DNMBP	PYROXD1	MC1R	THOC2	LCA5	CDC42	TAF2	PRPS1	MYF5	MRPS34	FBXW11	SLC17A5	UBE3A	EXOC8	FGFR3	NGLY1	NMNAT1	KDM1A	RP1L1	LRAT	PHOX2A	SLC25A46	TMEM231	KIF21A	PUF60	PRR12	WARS2	HMX1	HADHA	SPATA5	EFNB1	RNF2	SPATA7	RPL10	SON	ADD3	RPE65	BCORL1	HPDL	MADD	DPAGT1	PTRH2	ATP13A2	NR2F1	P4HTM	ADARB1	NONO	TMEM67	SIAH1	TYR	HNRNPH2	COL4A1	TBX1	CRIPT	ATP1A2	SLC6A8	FGFR2	SCO2	HACE1	FGF10	ATP1A3	LYRM7	TGFBR1	OCA2	SLC35A2	CACNA1A	SLC1A3	ZC4H2	PAX6	SALL2	MTRFR	BLOC1S3	CDH11	SOX5	ATRX	RERE	GNB2	TUBB3	SMAD3	WT1	GALNT2	TGFBR2	ADGRG1	AFF4	SNRPN	DYRK1A	BCOR	FBN1
HP_ABNORMAL_ERYTHROCYTE_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ERYTHROCYTE_PHYSIOLOGY	RHAG	SLC4A1	KCNN4	HBB	EPB42	SLC4A4	SPTA1	ANK1	GYPC	SPTB	PIEZO1	RHD	PKLR	RHCE	EPB41
HP_ABNORMAL_HEMOGLOBIN_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEMOGLOBIN_CONCENTRATION	AMN	PGK1	KCNN4	CUBN	MADD	PIEZO1	SLC4A1
HP_PERSISTENT_EBV_VIREMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERSISTENT_EBV_VIREMIA	CD27	LAT	PGM3	PRKCD	IKZF3	TET2	TOM1	DEF6	MAGT1	ITK
HP_HYPOPIGMENTED_MACULE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPIGMENTED_MACULE	KRT5	NONO	MEN1	TSC1	FANCC	EPHB4	CDKN2B	KRT14	CDKN1B	NF1	IFNG	TSC2	PLEC	CDKN2C	POFUT1	RASA1	PSENEN	POGLUT1	CDKN1A	ABCB6
HP_ERYTHROCYTE_INCLUSION_BODIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERYTHROCYTE_INCLUSION_BODIES	RPSA	HBA2	STIM1	HBA1	HBB	FADD	PUS1	GPX1	CASK	G6PD
HP_HEINZ_BODIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEINZ_BODIES	HBA2	HBA1	GPX1	CASK	G6PD	HBB
HP_INFECTION_FOLLOWING_LIVE_VACCINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFECTION_FOLLOWING_LIVE_VACCINATION	IFNAR2	IL12RB1	FCGR3A	IFNG	ZNFX1	REL	TBX21	SPPL2A
HP_BCGOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BCGOSIS	IL12RB1	IFNG	ZNFX1	REL	TBX21
HP_RECURRENT_STREPTOCOCCAL_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_STREPTOCOCCAL_INFECTIONS	IGKC	IGHG2	LYST	IRAK4	CFI
HP_UNUSUAL_FUNGAL_INFECTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNUSUAL_FUNGAL_INFECTION	CYBA	CIITA	TNPO3	RAG1	AIRE	SLC39A4	TFRC	TGFB1	CYBC1	CARD9	IL12RB1	BTD	CD3E	DOCK8	STAT3	CDH23	SDR9C7	DCLRE1C	RAG2	CLEC7A	RFXANK	SREBF1	ZAP70	IL2RG	RFXAP	IL21R	TRAF3IP2	PIK3CD	ZNF341	KNSTRN	IL7R	RFX5	TNFSF15	MMEL1	ADA	STK4	CYBB	TYK2	PGM3	GJB2	STAT1	IRF5	SPIB	WDR1	JAK3	EPG5	CD3D	IL2RA	NFKB2	IL12A	USP8	NCF2	AP3B1	CD247	PLCG2	IL17RA	KRT1	GATA2	DEF6	IKBKB	GJB6	MVK	IL17F	NCF1	HPGD	CARMIL2	POU2AF1	SP110	IL17RC
HP_BONE_FRACTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BONE_FRACTURE	MOGS	SLC2A2	EXT1	ANAPC1	GALT	SQSTM1	MTAP	EXT2	CLCN7	GNAS	TNFRSF11A	UBA1	TBCD	TAPT1	FGF23
HP_HYPOPLASTIC_DERMOEPIDERMAL_HEMIDESMOSOMES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_DERMOEPIDERMAL_HEMIDESMOSOMES	LAMB3	PLEC	COL17A1	ITGA6	ITGB4	LAMC2	LAMA3
HP_ABNORMAL_URINE_PROTEIN_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_PROTEIN_LEVEL	NF1	NPHS1	YRDC	MLXIPL	FN1	MYO1E	OFD1	MT-ND6	TBC1D8B	CFH	TRIM8	PDX1	LPIN2	STAT3	INF2	AMMECR1	G6PC1	INS	GTF2I	NUP133	CTNS	CTLA4	NCF1	SLC22A12	SLC25A11	MAX	SMARCAL1	DDOST	TRPC6	VHL	LIMK1	LAGE3	EIF4H	VPS33A	GSN	WT1	UNC45A	MT-TW	NUP85	PSTPIP1	GATA3	IER3IP1	LRP2	PLCE1	KIRREL1	GCK	MT-TH	HELLPAR	SPP1	PAX2	PTPRO	KANK2	DNMT3A	WDR4	TPRKB	ALG9	NUP107	DLST	OCRL	MAFB	PYGL	CUBN	SLC35A1	CFI	MT-CO1	NEU1	IRAK1	MT-ND1	COL4A3	C3	MAGI2	CLCNKB	SH2B1	TREX1	THBD	RNU7-1	CD81	SARS2	OSGEP	SLC12A3	SLC37A4	CLCN5	PUS3	NOTCH2	ERCC8	SGPL1	ANLN	GATM	ACSL4	EHHADH	WDR73	BCL7B	MT-TF	SDHB	HLA-DPA1	KARS1	STOX1	SURF1	LMNB2	NPHS2	NUP37	MDH2	PMM2	MIA3	NIPBL	MT-CO3	FAN1	TP53RK	MT-CO2	LAMB2	COQ2	KIF1B	CRB2	TMEM127	ATP7B	MT-TL1	HNF1B	COL4A4	METTL27	TBL2	ERCC4	APRT	NOS3	WDR19	PIGA	PKD1	PTPN22	NUP160	GAPVD1	MAF	GANAB	SCARB2	CD2AP	RET	SDHD	ARHGDIA	MT-TK	IFT172	MYH9	ELN	APOE	SLC34A1	TMEM270	FOXC2	SNAP29	SDHAF2	GBA	CD46	COL4A6	DNASE1L3	RFC2	COA8	EMP2	MMACHC	MEFV	HNF4A	SMARCA2	MT-TS2	LMX1B	STAT2	NUP93	PDSS2	CORIN	PKD2	PRDX1	FKBP6	NDUFAF6	LYZ	NOS1AP	STX1A	GLA	ACTN4	FLT1	BAZ1B	COL4A5	HMOX1	ERCC6	SDHC	ITGA8	BUD23	MT-ND5	DNAJC30	ITGA3	STAT4	MT-TN	ABCC8	BICC1	COQ8B	GTF2IRD2	SAA1	MTX2	GALT	CFB	VPS37D	AMN	DGKE	ZAP70	SPRY2	PRTN3	PRODH	APOL1	PEX1	FH	SLC2A9	DNAJB11	MT-TE	NUP205	HLA-DPB1	APOA1	COQ6	B2M	SDHA	ARHGAP24	LCAT	ANKFY1	EPAS1	SLC7A7	CLIP2	KCNE5	MT-ND4	KCNJ11	SLITRK6	GTF2IRD1	ACP5	MT-TQ	FGA	ADAMTS13
HP_ABNORMAL_TUBULAR_BASEMENT_MEMBRANE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TUBULAR_BASEMENT_MEMBRANE_MORPHOLOGY	DCDC2	TMEM67	NPHP1	MUC1	XPNPEP3
HP_DISTAL_JOINT_LAXITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_JOINT_LAXITY	COMP	COL6A3	COL13A1	PLOD1	COL6A2	COL6A1	PYROXD1	ALG2	COL12A1
HP_ABNORMAL_OOCYTE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_OOCYTE_MORPHOLOGY	PANX1	WEE2	ZP2	PATL2	TUBB8
HP_ABNORMAL_HAPTOGLOBIN_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HAPTOGLOBIN_LEVEL	RHAG	UROS	RHD	PIGA	RHCE	GATA1
HP_ABNORMAL_SARCOMERE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SARCOMERE_MORPHOLOGY	TNNT1	ACTN2	KY	ANO5	SQSTM1	RYR1	TTN	UNC45B	FXR1	NOTCH2NLC	LAMA2
HP_ABNORMAL_Z_DISC_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_Z_DISC_MORPHOLOGY	TNNT1	UNC45B	FXR1	ACTN2	KY	SQSTM1
HP_SIMPLE_EAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SIMPLE_EAR	POR	CAPN15	BICRA	SMARCD2	DDB1	DHX16	SH3PXD2B	EXOC2
HP_REFLEX_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REFLEX_SEIZURE	KCTD7	SCN1A	SCN1B	GABRG2	SCN2A	SCN9A	PCDH19	GABRA1	GABRD	CLCN2	EFHC1	CHD2	CILK1	SLC9A6	KCNQ3	CPA6	JRK	CACNB4	SYNGAP1
HP_MOTOR_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOTOR_SEIZURE	UBE3A	SLC12A5	DCPS	CACNA1I	PIGA	NCDN	PDX1	GBA	HK1	KANSL1	DPM1	DPM2	FAR1	KCNQ2	MT-ND3	CDH15	INS	TBCD	SCN2A	SQOR	ZNHIT3	GABRA1	CLCN2	TSC2	CDH2	AP2M1	EXOSC5	CNPY3	MTHFR	NHLRC1	CHRNA2	SCN1A	GRIK2	SCN9A	GCK	CTSD	CILK1	ERBB4	MYT1L	RPL10	CACNG2	TSC1	KCNT1	MT-TP	SIK1	ST3GAL3	COG2	MT-TI	ASAH1	STRADA	DOCK7	C12orf4	GNAO1	CC2D1A	ADGRV1	SMC1A	GOSR2	AKT3	PRICKLE1	CAMK2B	TBC1D24	FMN2	SLC1A4	ZMYND11	NTNG1	GABRG2	KCNQ3	TRPM3	GALC	CLCN3	DLL1	ASH1L	AFG3L2	ATP1A3	SLC2A1	SPTBN1	KNSTRN	KARS1	CPLX1	DHX37	CACNA1A	MMACHC	HNMT	CHAMP1	HACE1	DEAF1	NDE1	KCNA1	ACSF3	GABRD	DNM1L	SMS	GABRA5	GLB1	PCDH19	NARS1	TSEN54	CUX2	IFNG	TUSC3	VPS53	IQSEC2	FBLN1	DALRD3	LMAN2L	GRIN2A	KCNJ11	TANGO2	MT-TW	NSUN2	STX1B	NEXMIF	MT-ND1	GRIN1	HEXB	CHD2	ADGRG1	PIK3CD	ALDH7A1	TMX2	PSAP	CLIP1	PIK3CA	PRICKLE2	EHMT1	SMARCA2	ALG13	SCN8A	PTEN	LNPK	SLC6A1	WASHC4	MICOS13	NPRL2	NGLY1	PGAP1	CAMK2A	ALDH5A1	BUB1B	PPP3CA	CARS2	GAMT	GCDH	PIGM	SLC25A15	KCTD7	CDK19	CDC40	SET	SPATA5	MT-TK	HIBCH	NAA20	CABP4	JRK	COQ5	TECR	FBXO31	MFSD8	PLAGL1	HCN1	CDKL5	DYNC1H1	PI4KA	PCDH12	ATP1A2	GRM7	BRAT1	ACTL6B	GUF1	ARX	WDR45	KDM5B	PNKP	SPATA5L1	MFF	DMXL2	SETD1B	PRSS12	PTPN23	SPTAN1	CASK	EFHC1	SCN1B	NDUFA1	RNF13	GRIA2	KIF1A	METTL23	EPM2A	CLTC	PDHA1	RAB11A	SLC1A3	LGI1	MT-ND6	EDC3	MED23	CSNK2B	HYMAI	PSAT1	SATB1	PPIL1	DEPDC5	DNM1	SDHAF1	PIGQ	ELOVL4	CLCN4	PHACTR1	MT-TQ	SDHD	GABBR2	COX4I1	SRPX2	NBEA	MECP2	PYCR2	TUBA8	KCNMA1	KDM4B	PURA	NEUROD2	TRIM8	TRIT1	CEP85L	STAT3	MED25	PIGC	ALG14	ZC3H14	SMARCAL1	KCNT2	SDHA	NSF	TMEM231	TRAPPC9	SARS1	IER3IP1	MT-ND5	KCNB1	HCN4	GPAA1	CUL3	DCX	MT-TL1	GABRB3	PTRH2	EXOC7	EN1	DPAGT1	DOLK	NSD1	PIGT	MED13	AP3D1	IQSEC1	SLC35A2	KIF5C	RALGAPA1	MED12L	SETD2	TSEN34	MBD5	CIC	FRRS1L	TSEN15	SYNGAP1	SEPSECS	CUX1	KIRREL3	PRDM8	MBOAT7	TCF4	PLCB1	SETBP1	MGAT2	CRBN	TTC5	EPB41L1	GNB2	SLC25A22	PCYT2	LINS1	NPRL3	LONP1	MICAL1	PRRT2	MAPK1	ALDH4A1	UBE4A	EZR	CACNB4	MT-TF	APC2	TGFB1	RSRC1	MT-RNR1	TNIK	GAD1	MT-TH	ATP6AP2	DYRK1A	OPHN1	DPYD	HCN2	TSEN2	EXOC8	SDHB	HIVEP2	CLN5	ARHGEF9	GRN	PHGDH	UGDH	CRH	UFSP2	CLN8	CELF2	PAFAH1B1	NDST1	SLC25A10	GRIN2B	STXBP1	EEF1A2	NTRK2	SLC12A2	SLC19A3	MT-TV	MT-ATP6	SLC9A6	CHRNA4	RELN	ABCC8	COX8A	SLC45A1	B3GALNT2	PLPBP	BTD	SLC13A5	RTN4IP1	MT-ND2	KCNQ5	CRADD	CACNA1D	MT-TS2	MT-ND4	SAMD12	ALKBH8	AIMP1	DOCK8	NDUFAF8	MAN1B1	CHRNB2	CSNK2A1	TRAPPC12	NUS1	BRSK2	CAMTA1	TAOK1	PPP1R21	MAPK10	PIGP	DHDDS	EXTL3	NEMF	ALG2	ATXN10	AP1G1	RNU4ATAC	DHX16	NEU1
HP_CLONIC_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLONIC_SEIZURE	RELN	PNKP	DMXL2	SLC12A5	GABRG2	TRIM8	KIF5C	FRRS1L	NEUROD2	CASK	SCN1B	PSAP	GRIN2A	KANSL1	DPM2	SCN1A	KCNQ3	PIGQ	GRIA2	SCN2A	KCNQ2	PRRT2	SMARCAL1	PCDH19	SPTBN1	GABRA1	LGI1	ARX	KCNA1	GRIK2	SCN9A	ACSF3	SCN8A	SATB1	CDKL5	MICAL1	PIGP	SIK1	TBC1D24	SLC25A22	SRPX2	GRM7	GNAO1
HP_DECEREBRATE_RIGIDITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECEREBRATE_RIGIDITY	PSAP	ARSA	GLB1	GALC	ASPA
HP_ABNORMAL_VASCULAR_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VASCULAR_MORPHOLOGY	RERE	NDE1	IL12A-AS1	ELN	OFD1	NTNG2	IL12A	KAT6A	WAS	ZEB2	CTSA	EED	CCDC40	PLXND1	GATA4	UQCRFS1	APP	GATA6	MAT2A	SMG8	SALL4	RRAS	GPC3	COX7B	PRKCSH	CDC42	MT-ND1	MNX1	HRAS	RIT1	FANCC	CEP120	BCOR	PNP	FBN2	TSC2	CDH2	MED27	EIF4H	HDAC4	APOB	FANCF	SIX3	CTU2	ERCC4	TTC26	LDLRAP1	FANCD2	PAH	RBM10	LIFR	FBLN5	PTCH1	LRRC56	ERAP1	KRAS	TUBG1	UMPS	FOXE3	SLC2A10	NODAL	LMNA	ZIC3	RSPH1	RSPRY1	TRIP4	ERCC5	MYCN	RPL10	BRCC3	PACS1	PTEN	TSC1	COL1A2	NADSYN1	TGFBR2	ESCO2	EMC10	CRKL	TREX1	ADK	MLX	LTBP1	MARS2	STAT4	ATP7A	IFIH1	TBX4	SEMA3E	CHST3	PTPN23	LRP5	EHMT1	TRIP12	TPM3	HPGD	VHL	MVK	NAA10	SOX2	SMARCB1	SMARCAL1	POLR1D	EFEMP2	ATP6V1A	CYP7A1	MAD2L2	SHANK3	MED13L	FANCA	ALG3	PDGFB	COG4	SKI	GALC	RPL27	TGFBR1	FANCB	SPTBN1	KNSTRN	STIL	RSPH9	ABCC6	NOTCH3	KDM6A	FBXW11	WDFY3	DDX6	RPL35A	SMOC1	TCF20	RPS26	WNT4	CD96	PRPF3	JAG1	TTC37	TBX1	NKX2-5	ODAD3	TMEM94	PIK3CA	POLA1	TONSL	TELO2	PCSK9	ARID1B	RPS15A	IFT43	MEFV	HYOU1	APOA5	MEIS2	BCORL1	RLIM	ESR1	DNAJB13	THSD1	SCN10A	METTL27	RNU4ATAC	KCNN3	MT-CO3	DHCR7	NPC2	CREBBP	PIGN	MYH11	TGIF1	FLT4	CEP57	NPHP3	TMCO1	DYRK1A	DISP1	MYT1L	FTO	APOE	ESS2	FIG4	FADD	DCDC2	PKD1	PTPN22	ALMS1	PBX1	GANAB	PLOD1	IDS	MPL	RPL15	NEDD4L	ADAT3	RSPO2	CADM3	CHRM3	RNF213	PIK3R2	HCCS	DNAH5	PPARG	NLRP3	GLI3	ADAR	DNAAF11	C2CD3	PRKAR1A	SPAG1	KCNH1	ODAD1	HLA-DRB1	FARSB	RBP4	TDGF1	ZMPSTE24	QRICH1	KMT2E	ADAMTS3	TNFRSF1A	MEGF8	UBE3B	SIK3	MGP	RIPPLY2	FKBP6	PAM16	MS4A1	PIGL	NSD1	HPDL	SMARCD1	MT-ATP6	DOCK6	LDLR	HIBCH	OTUD5	CSGALNACT1	ICOS	GLMN	CCDC65	ACTA2	DGCR2	CAT	RASA1	PDCD10	USP18	GATA5	BUD23	WDR37	MYOCD	FANCE	DNAJC30	SH2D1A	TCF7L2	PUS7	FLI1	FASLG	SNX10	GDF1	IGBP1	FAS	CFAP53	SYNCRIP	ASCC1	VPS37D	AASS	SMAD4	GUSB	EP300	LIPA	C4A	AGO2	SMAD2	CCNQ	RPS19	COA6	PIGT	DNAJB11	SALL1	ARX	DLL4	SLC29A3	GGCX	CXCR4	SHH	MYLK	TMEM260	TRIP13	GJA5	TBX20	HYMAI	LMX1B	DVL3	KDM3B	PEX12	KIF1B	LCAT	COL1A1	DYRK1B	SMPD1	SAMHD1	HEY2	MSX2	XRCC2	PRKCD	HNRNPK	THOC6	KAT8	KCNE5	SETD1A	ACTB	RNASEH2A	AGGF1	ADA2	AFF4	TRIP11	CDK8	BRAF	LARS2	CELA2A	BRCA1	ACP5	PORCN	CRELD1	PTPN11	GAS1	ZMYND10	SUPT16H	DRC1	RAI1	ALDH18A1	RAD21	FLNB	IL6	SNRPN	HTRA1	CD19	KDM4B	ASAH1	CTCF	RAF1	MAX	C12orf57	PSAP	HGD	GLB1	PPP1R17	PSMD12	ANTXR1	TALDO1	NIPA1	MYPN	ZMIZ1	GM2A	ALG12	TBC1D24	RPS28	PRKCZ	EXT1	AMER1	GALNT3	ZNF148	RPL35	ARPC1B	HES7	EIF2AK3	CYP27A1	LZTR1	MESP2	RIN2	ABCC9	RPL5	TNRC6B	CBS	TNXB	TNFSF12	TULP1	FGFR3	UFD1	CCBE1	UBAC2	ADAMTSL1	SLC12A3	TFAP2B	COL3A1	HIRA	CFI	MCIDAS	PALB2	MYRF	KCNAB2	FGFR1	APOA1	AGPAT2	ANKS6	WASHC5	SDHB	ARFGEF2	CLCN7	FANCG	FGF10	F12	FBN1	SOS1	PPP1R15B	ACTL6A	UBR7	SLC39A13	NF1	PDPN	MAP3K7	XYLT2	NOTCH1	CD244	CCR1	EPHB4	TAB2	RAB23	TGFB3	UBR1	MAPK1	NRAS	SOS2	ABCG5	SEC24C	PROC	FGF8	EXT2	ARF1	TLL1	LTBP4	MASP1	ZNF687	WT1	HS2ST1	DNAAF6	ANKRD17	SMC3	RTL1	APC2	SRCAP	HSPG2	PKD1L1	SDHD	G6PC3	ROBO4	ACVR2B	BAP1	SATB1	TGFBR3	SPEN	NFKB2	MPI	ABCA1	FOXC2	BPTF	FOXF1	NEK9	CCDC39	ENG	CCNO	GPC6	PROS1	CAV1	EIF2AK4	FOXJ1	CRB2	SLX4	SCN11A	OTULIN	DNAAF5	NIPA2	GDF2	RPGR	PIGY	BAZ1B	MEG3	ADH5	NEU1	FMR1	SERPIND1	NOTCH2	WIPF1	RRAS2	CD81	UBE2A	DNAI2	ERCC8	CRTAP	ENPP1	SNX14	JAK2	SYK	MT-ND4L	SEC61A1	CCDC22	SVBP	FOS	PCGF2	WDPCP	COQ4	KCNJ8	UBE2T	NOD2	TCIRG1	GPR35	NKX2-6	GJA1	STRA6	TAOK1	SLC35A2	WASF1	GAA	ZMYM2	RPL31	COL4A1	NEK10	CSF2RA	FOXH1	SF3B4	MED12	RFWD3	SON	PDGFRB	ERCC6	RPS29	B3GLCT	RPL11	FLNA	CCM2	MAP1B	DGCR8	ACVRL1	TSR2	RREB1	DDX11	CLIP2	CBL	BEST1	SH3PXD2B	GTF2IRD1	UNC45B	RBM8A	CWC27	HYDIN	COMT	PRKACB	SELENOI	CITED2	SFTPB	TRMT1	EOGT	GATA1	SKIV2L	RAD51	GBA	KANSL1	AMMECR1	ERCC3	GTF2I	CTLA4	PKP2	NCF1	ARSL	DNAAF2	ROR2	NT5E	KRIT1	DOCK3	NR2F2	SCN9A	SUCLG1	PEX19	TCF4	POLR1C	RPL18	YY1AP1	HLA-B	GPC4	INTU	IGF2	ODAD4	DDX59	FIBP	LOX	ARHGAP31	ALG9	SMARCA4	XIAP	CASP10	ACTL6B	CHD7	CALM3	CLCNKB	FANCL	COL5A2	RNASEH2C	DPYSL5	SMAD3	NEK1	DNAH1	MID1	TSFM	PHGDH	CHD4	CAVIN1	SLC25A24	SMC1A	WDR35	MAPK8IP3	MRAS	BUB1B	KCNMA1	PPP2R1A	BCL7B	SMG9	B2M	FOXC1	MYH3	NFKBIL1	CFAP300	NDP	COL5A1	CHUK	ARID1A	HLA-DPA1	TGFB2	WAC	ABL1	CYP1B1	RPS10	TEK	WDR26	CDON	SOX11	MED25	STAT1	PRDM16	ZIC2	MFAP5	IFNG	TMEM127	NXN	POU3F4	DIS3L2	BRF1	CIITA	ABCG8	STAG2	UBA1	CCDC32	SNRPB	FKBP14	AKT1	ARL6IP6	FANCI	ATP6V1B2	MYD88	TPM2	AGXT	HEXB	CELSR1	IL12RB1	KYNU	TRRAP	USP9X	TLR4	SLC12A2	DNASE1L3	RFC2	MYOC	FKTN	RET	PIEZO1	TKT	PRKG1	PKD2	DNAAF4	BICRA	SPRED2	SOX10	GRIA4	CR2	ZFPM2	PLAGL1	TGDS	WDR19	FGFR2	NONO	RAD51C	IL12B	TCOF1	TRAIP	PCNT	DLL3	BICC1	BMPR1A	DNMT3A	RPS24	IFNGR1	PLOD3	ECE1	PPP1CB	GAS2L2	MKKS	PRTN3	SOX18	PIK3CD	COG6	PEX1	DHCR24	SMARCA2	BUB1	TMTC3	RNF2	HEXA	ODAD2	ANGPTL6	APOA2	ZNF462	HLA-DPB1	NTNG1	MMP21	GLI2	CHRNG	NSMCE2	BSCL2	PIGO	EPHX2	PRDM6	PYCR1	CNOT3	DLK1	CSF2RB	GUCY1A1	ATP6V0A2	IL23R	BRCA2	TBX2	NEK8	GP1BB	AEBP1	PQBP1	CFAP221	MLXIPL	TMEM67	SRY	ABCD4	ARID2	MCTP2	MED13	GJC2	TTC12	SPECC1L	DGCR6	LIMK1	TNFRSF13B	XYLT1	VPS33A	CLCN3	DOCK8	RPS17	RPS7	TMEM231	CFAP298	VAC14	PGM3	KAT6B	PUF60	KMT2D	GAS8	TP63	SIX6	DNAAF3	UBE4B	IL10	WRN	SLC20A2	ARVCF	KDR	SEC63	GMPPB	ALX3	IDH1	RPS27	SPEF2	ZNF699	TANC2	BCL11B	STAT3	FZD4	RNASEH2B	SC5D	SOX4	POLR1A	DNAI1	RSPH3	BMPR2	BCAS3	NFKB1	MT-ND6	SETD2	SMARCC2	MADD	CACNA1C	SAMD9	RPS20	ACSL4	MT-ND5	PGM1	PALS1	BMP2	RAC1	SMAD6	LFNG	NPR3	MMP23B	POLR3A	PTH1R	DNAAF1	TNFSF11	P4HA2	DPM1	SLC34A2	MGAT2	STXBP1	SMARCE1	SUFU	GNB2	DACT1	SLC37A4	MKS1	PTDSS1	BUB3	TBL2	TRAF7	GJA8	MT-CYB	RASA2	MAF	FANCM	HOXA1	B3GALT6	ALX1	ADAMTS10	FAT4	ANK1	STK36	NFIX	NPPA	TMEM270	BRIP1	DYNC2LI1	DNAL1	RASGRP1	NCAPG2	SEMA4D	DPF2	HTT	GHR	KIF5A	B3GAT3	STX1A	ALB	PNPLA2	RSPH4A	ERMARD	PLCB3	THPO	ALG8	COL18A1	NDUFB11	DNAH9	MYH7	CASZ1	POLR1B	KCNJ5	LMBRD2	RPL26	JMJD1C	PLD1	BCR	GTF2IRD2	DARS1	DLL1	SLC22A4	TNFRSF13C	MAP2K1	NKAP	ATP6V1E1	NPC1	CCDC103	LUZP1	BANF1	MST1	MRPS16	ERCC2	CFC1	MMP2	SSR4	IPO8	MT-ND4	KLRC4	ALX4	LEMD3	CARS1	GABRD	TBX5	DTNA	IGFBP7	MMP14	HUWE1	LIPC	LEMD2	CEP19	RYR2	DNAH11	RBPJ	TRAPPC4	NME8	GNAQ	BGN	MT-ND2	JARID2
HP_ARTERIAL_RUPTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTERIAL_RUPTURE	PLOD3	COL5A2	COL1A1	PLOD1	FKBP14	COL3A1	COL1A2	COL5A1
HP_ABNORMAL_ERYTHROCYTE_SEDIMENTATION_RATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ERYTHROCYTE_SEDIMENTATION_RATE	IFNGR1	PTPN22	LACC1	HLA-DRB1	MVK	STING1	ITK	NLRP3	IL37	MEFV	NLRP12	CD247	PRKCD	SLC22A4	HLA-B	STAT4	PRTN3	CTLA4	NFKBIL1	COPA	HLA-DPA1	TNFRSF1A	TREX1	ANKRD55	NOD2	IL2RA	PTPN2	IL2RB	TGFB1	PSMB8	PSMB4	IL1RN	HLA-DPB1	IL6	MIF	MTTP	P4HA2	PSMB9	ZNFX1	CARD10	CASP10	CD244	POMP	SPP1	LPIN2	ARPC1B	IL10	SLC29A3	IRAK1	CIITA	ADA2	UBA1	MYD88
HP_ABNORMALITY_OF_ENTERIC_NERVOUS_SYSTEM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_ENTERIC_NERVOUS_SYSTEM_MORPHOLOGY	SNAI2	SOX10	FANCM	APC2	COMT	TMEM237	DHCR7	ZEB2	CEP120	MKS1	CCDC28B	RAD51	PHOX2B	ZNF423	FANCC	TBX1	BRIP1	ERBB3	CEP41	MITF	MBTPS2	EDNRB	INPP5E	L1CAM	GDNF	TMEM67	PIGW	RET	ATP7A	ASCL1	PAX3	KIT	KATNIP	FANCF	SMO	AHI1	CBY1	PGAP3	ERCC4	KITLG	SLX4	FANCD2	KIFBP	CEP104	PIBF1	DDX59	CPLANE1	PGAP2	SALL4	ERBB2	TCTN1	PIGL	ARVCF	ACTG2	KRAS	MKKS	UFD1	TMEM216	CC2D2A	SH2B1	EDN3	FANCL	RMRP	RAD51C	FANCE	BBS1	NSD1	JMJD1C	TTR	RPGRIP1L	HIRA	HYLS1	CEP290	ARMC9	TYR	PALB2	PIGO	ECE1	SETD2	ATRX	UBE2T	ARL6	MAD2L2	SLC6A8	SUFU	FANCA	PIGV	NRTN	FANCG	TCF4	ARL3	FOXF1	CSPP1	ARX	ARL13B	TMEM231	SREBF1	TMEM138	SETBP1	EP300	B9D1	NPHP1	SF3B4	RFWD3	NAA10	BDNF	PIGY	BRCA2	XRCC2	GATA1	KIAA0586	SEC24C	SEMA3C	RREB1	ABCD1	CREBBP	GP1BB	BCOR	PIGN	FANCB	BRCA1	MYO1H	FANCI	SEMA3D	TCTN2
HP_ABNORMALITY_OF_DIGESTIVE_SYSTEM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_DIGESTIVE_SYSTEM_MORPHOLOGY	IL12A	KAT6A	WAS	ZEB2	TBCE	REL	FCGR2A	RTTN	CLCN4	GATA6	SALL4	GPC3	JAK3	COX7B	FAH	SKIV2L	BCOR	TGIF1	CEP41	HDAC4	TCF3	RET	UNC45A	FANCF	SIX3	ERCC4	AKT1	FANCD2	PAH	RBM10	ODC1	FBLN5	PTCH1	FGFR1	MYF6	ZIC3	RAD51C	RSPH1	IKZF3	SI	CTC1	MYCN	DMP1	CCN2	OFD1	MSR1	DEF6	NHP2	ACADVL	LTBP1	STAT4	POGLUT1	PSTPIP1	CDON	GDNF	SDHD	POLE	MVK	SLC5A1	LRRC8A	IL12RB1	IGHM	MEG3	APC	CALR	POLG	RMRP	MAD2L2	FANCA	KMT2C	TGFBR1	NODAL	JAK1	LAMB3	TJP2	DDX6	BRAF	RPL35A	TRAPPC11	RTEL1	RPS26	ITGB4	NIPBL	PEX12	UROS	ODAD3	EPCAM	IL10RB	ZNF711	RPS15A	BDNF	RAC2	DISP1	GATA1	MDM2	TGFBR2	PTRH2	DYRK1A	NCF4	USF3	FIG4	POU2AF1	DCDC2	ZPR1	PKHD1	AIRE	ARNT2	RPL15	NEDD4L	DNM2	LONP1	RAD21	CHRM3	NPHS1	LEMD3	POLD1	IL21	BAX	DNAAF11	TBX1	EGFR	PMS2	ODAD1	RNF6	RABL3	DACT1	LIG4	FGF20	TREH	FRAS1	KIT	NLRC4	ADAMTS3	PEX26	TERT	TP53	CEP104	FGF8	CDH1	MS4A1	MINPP1	GLIS3	HELLS	GDF3	CCDC65	GAS1	RRM2B	MYLK	KLLN	BUD23	TERC	MKKS	ABCB11	SPINK1	FANCE	ALG6	DNAJC30	MLH1	STX11	FLI1	SAA1	PTEN	RARB	CCNQ	BRCA2	RPS19	EMC1	CLMP	OSGEP	DNAJC21	CSPP1	MT-TE	CXCR4	SHH	NOD2	TRIP13	EP300	DVL3	KDM3B	LMOD1	COG8	HLA-B	USP27X	C1R	NDUFB11	HNRNPK	PAX3	ABCD1	F13A1	GLA	GSTM3	CDKN1B	ZNF81	WNT7A	CDK8	BRCA1	MYOD1	EFL1	MT-ND6	LBR	DRC1	HDAC8	ALDH18A1	TLR2	MKS1	ABCC2	STAT5B	SLC6A5	CTBP1	STAG2	MBTPS2	LAMA3	TFAP2A	F13B	LIG3	MT-TW	VWF	ALG12	CENPF	RAPSN	ARPC1B	NCF2	SEMA3E	PIGL	RPL5	CBS	ACTG2	OPLAH	TNFSF12	UFD1	CC2D2A	EDNRB	CCBE1	PSENEN	SDHC	ITGA6	PIGT	LMNA	KCNAB2	NPM1	SMAD4	DMD	GLI2	WASHC5	PDGFRA	LIPA	STAT3	EDNRA	OCRL	SEMA4A	DSE	ACSL4	FGFR2	ITGA8	SRP54	SMO	SETBP1	B9D1	PLEC	MAP3K7	MUTYH	NSUN2	UBR1	MAPK1	DLEC1	MED12	NOTCH1	TET2	CTRC	FOXC1	SOX10	LTBP4	CD79B	COL7A1	RUNX1	PEX1	TGFB1	CPOX	HSPG2	CPLX1	RNF43	SOX2	ESCO2	PEX11B	RFXAP	CD3G	AP1S1	NFKB2	MPI	TWNK	CFTR	MT-TS2	ASCL1	KATNIP	PEX5	PGAP3	PHGDH	EFTUD2	KIFBP	DNAAF5	BAZ1B	PLA2G2A	TCTN3	WIPF1	ARX	SERPING1	MT-ND5	MTM1	DNAI2	NCF1	SIN3A	PDGFRL	SYK	ZFPM2	ERBB2	FLCN	HYLS1	TYR	NOP10	UBE2T	NBN	FERMT1	CHST14	FCHO1	NTHL1	ARL3	ASXL3	MGMT	UPF3B	ATN1	RPS6KA3	TNFSF15	STXBP2	SOCS1	HLA-DQB1	RPL31	ASCC1	SREBF1	SF3B4	RFWD3	SDHB	B3GLCT	GPIHBP1	MAP1B	WDR73	TSR2	ENG	WT1	SEMA3C	SLC7A7	CLIP2	COX4I2	ADAM17	FAS	GTF2IRD1	SERPINA1	RYR1	HCFC1	CIITA	SRCAP	GTF2I	CTLA4	AK2	TCF4	ELANE	WFS1	HCCS	SYT2	IGKC	GPC4	INTU	MITF	BUB1	MT-TH	VANGL1	FBN2	MSH6	MTRFR	FOXH1	GDF6	CASP10	LRP2	TMEM216	COL5A2	PTCH2	CCND1	DNAH1	BUB1B	SLC25A24	SH3KBP1	SLC12A2	TDGF1	RECQL4	ARHGAP31	RPS20	HNRNPU	NRTN	CFAP300	HPGD	TTC7A	IQSEC2	ABL1	RPS10	TEK	NPHP1	HNF1B	MT-CO2	STAT1	PIGV	PRDM16	CHD7	ZIC2	CEP120	FANCL	PTF1A	SMAD3	ARID1B	PIGN	ABCB4	PROKR2	IGLL1	NSD2	LRBA	SMC1A	ATP7A	GREM1	MEN1	RERE	PLG	EXTL3	CYP7B1	USP9X	TLR4	XIAP	CCR6	ERBB3	LCT	CD55	PIEZO1	KRAS	DNAAF4	KRT18	SLC2A2	DOK7	ELN	SLC39A4	CR2	SPIB	NFKB1	PGAP2	PIK3CA	BLM	FRMPD4	FREM1	FOXP3	TCOF1	GLRA1	KIF7	CLTRN	SPINK5	BMPR1A	CD96	RPS24	UROD	IFNGR1	RELA	ECE1	FOXE1	SALL1	PRTN3	WNT9B	NUP88	COG6	PLA2G4A	ADAMTS2	L1CAM	FAN1	ARL13B	HLA-DPB1	SDHA	CHRNG	MTTP	FLNA	PIGO	UNC13D	SATB1	AMACR	IL23R	DYNC2H1	CEP57	IVNS1ABP	EDN3	ASXL1	OTC	WDR35	SLC6A19	PPOX	FLNB	SAR1B	MLXIPL	SUFU	TMEM67	TNFAIP3	WWOX	CD79A	ZNF41	PITX2	TTC12	FTSJ1	LAGE3	POFUT1	HMGA2	CFAP298	VAC14	PGM3	KMT2D	GAS8	CYBB	STN1	DLL1	DNAAF3	UBE4B	ARVCF	CREBBP	HOXD13	PHOX2B	NOTCH2	DCTN4	CNKSR2	ACTA2	FCN3	BBS1	SPEF2	TBX3	NEUROG3	DNAI1	DOCK8	DKC1	POR	SAMD9	AXIN2	EYA1	GPHN	MMP23B	IFT43	SOX3	DNAAF1	SLC9A3	TMEM237	KIF3B	DLC1	NAA10	RHBDF2	TYMP	POMT2	LAMC2	CHN1	CARMIL2	SEC23B	PIK3R1	IL1RN	FGFRL1	SPEN	CTNND1	HMBS	CLCA4	SPECC1L	IKZF1	CCDC47	BRIP1	FAT4	HFE	SEMA4D	PPP2R5D	PEX10	RFX5	DGUOK	INPP5E	CBY1	PTPRJ	CTHRC1	NUP133	STX1A	RSPH4A	CDKN2A	ALG8	PMS1	COL3A1	RPL11	DCC	ADAMTSL2	ALG13	SLC18A3	IRF1	INAVA	PIEZO2	JMJD1C	BCR	GTF2IRD2	NEK9	SMAD7	LETM1	CCDC103	LUZP1	CHEK2	MID1	TGFB2	CFAP45	KLRC4	COL5A1	ZAP70	TREX1	MYO5B	CTNNB1	GABRD	SKI	IFT80	WNT3	IDS	DNMT3B	DNAH11	MSH2	CYBC1	HLA-DRB1	MC1R	MT-TQ	LZTS1	LARGE1	IL12A-AS1	FKTN	CCDC40	CDKN2B	CCDC28B	RIPK1	POLA1	AGA	ACD	MNX1	MYH11	CDK4	FANCC	PEX3	EIF4H	TWIST2	PIGW	GREB1L	TTC26	ERAP1	SLC2A10	WDR4	TWIST1	ACOX2	PACS1	MT-CO1	MT-ND1	HESX1	CRKL	SHPK	ERCC2	SNAI2	DDX59	F12	SMC3	DPYS	HSD3B7	MASP2	FREM2	SLC46A1	POLR1D	STIL	MT-TF	PEX6	RPL27	FANCB	TNXB	HRAS	RSPH9	KDM6A	PSPH	ALMS1	DYNC2I1	TTC37	WNT2B	MEFV	HYOU1	MT-TL1	DNAJB13	GCLC	TERF2IP	METTL27	SLCO2A1	DHCR7	PPP1R12A	NPHP3	MSH3	AKR1D1	STS	MYO1H	PEX16	ENPP1	MYC	IRGM	DNAH5	IL37	GLI3	GBE1	C2CD3	DHODH	SPAG1	COL4A6	FARSB	COL14A1	TNFRSF1A	UBE3B	ATAD1	FKBP6	POT1	BRD4	IL2RB	IRF5	DOCK6	GUCY2C	OTUD5	ICOS	GLMN	ATP8B1	ITCH	SLC6A14	PEX14	TTR	VPS37D	SATB2	C4A	GON7	DLL4	SLC29A3	TMEM138	ANTXR2	IARS1	LMX1B	SETD5	RAD51	XRCC2	PRKCD	THOC6	MECP2	ADA2	PORCN	PRF1	SERPINH1	TCTN2	ZMYND10	RIPK4	MTOR	XRCC4	CD19	FH	PET117	ZBTB24	SMARCAL1	ISL1	HSPA9	PLCG2	DICER1	STX3	RPS28	PRKCZ	EXT1	VPS51	DCHS1	CPLANE1	ZMPSTE24	MMP1	RPL35	FKRP	DGAT1	GLRB	NOTCH3	MTMR14	KRT8	MAMLD1	UBAC2	AURKA	ATP2A2	PALB2	HLA-DQA1	PDGFRB	SLC37A4	HIRA	MCIDAS	MYRF	UPB1	ARL6	ALAD	HPS1	ARFGEF2	FANCG	PCSK1	IL1B	MT-CO3	PDPN	PHKA2	CCR1	TSPAN7	SRC	SEC24C	CDCA7	SUZ12	ARF1	PTPN22	DNAAF6	NRAS	APC2	GNAS	RTL1	ALG3	IL1RAPL1	MT-TK	KEAP1	RSPO2	ZNF423	INSR	FOXF1	CCDC39	CCNO	HMOX1	HABP2	FOXJ1	KITLG	SLX4	BCL10	GDF2	RPGR	CISD2	IL2RA	CD81	JAK2	CCDC22	RPGRIP1L	CBL	PLVAP	GPR35	PEX2	STRA6	RAD54B	MLH3	TMEM231	OTX2	NEK10	MUSK	AP1B1	PTCHD1	SON	TINF2	RPS29	WNT4	ACVRL1	NEK1	RREB1	CDKN2C	KRT5	FGFR3	RBM8A	KIF12	HYDIN	TNPO3	FASLG	TGFB3	COMT	BIN1	LPIN2	GBA	DNAAF2	PNLIP	ROR2	YY1	TMPRSS6	CDKN1A	POLR1C	RPL18	DZIP1L	AMER1	ALG1	AHI1	ODAD4	LRRC56	BAP1	TPRKB	MCC	EXT2	KANSL1	RRAS2	ITGB2	PHKG2	CHD4	EWSR1	SBDS	MEOX1	ARHGEF6	BCL7B	B2M	MYH3	MIF	HLA-DPA1	PKD1	WAC	CAV1	PRKAR1A	TRMT5	NXN	ATP7B	KIAA0586	DLK1	DIS3L2	EHMT1	SNRPB	FANCI	MYD88	EFEMP2	CEACAM6	USB1	RFC2	POMT1	DLG3	COL1A1	BICRA	TNRC6B	SLC30A10	IGHG2	AAGAB	RAB39B	MADD	AGTR2	ATRX	GAS2L2	DHCR24	TMTC3	ODAD2	FUZ	MMP21	ABCB1	BTK	KCNN4	SLC51B	WBP11	GRIP1	F5	MT-ND4	GP1BB	PAK3	CBLIF	PQBP1	CFAP221	EOGT	STK11	IL6	IRF4	RFXANK	GDI1	LIMK1	TNFRSF13B	BLNK	MMEL1	RPS17	RPS7	PIBF1	SRSF2	SIX6	SLC26A9	TCTN1	BACH2	PIK3CD	SLC9A7	CDH11	SH2B1	RPS27	PERCC1	DDB1	NSD1	KLF6	NUP107	ZNF699	RFX6	RSPH3	CEP290	SETD2	SLC6A8	PEX19	TP63	IL10RA	CDC45	SYP	PALLD	STXBP1	GNB2	PTDSS1	BUB3	TBL2	NEFH	PARN	MAFB	GIMAP5	SEMA3D	CYBA	FANCM	MCM6	PRSS1	STK36	TMEM270	CAVIN1	DNAL1	RASGRP1	IL10	PEX13	DYNC2I2	PIK3C2A	TP53RK	MIR17HG	MID2	ERMARD	COL18A1	DNAH9	COL4A5	CASZ1	POLR1B	TOM1	RPL26	STEEP1	CEACAM3	AR	SIX1	ARMC9	PTPN12	SLC10A2	TNFRSF13C	CARD8	PPP2R3C	SPINT2	MST1	CFC1	PKP1	IPO8	SMARCD1	WRAP53	SLC11A1	PIGY	ALG9	PRSS2	RBPJ	NME8	CAPN15
HP_ABNORMAL_BRAIN_LACTATE_LEVEL_BY_MRS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BRAIN_LACTATE_LEVEL_BY_MRS	MTRFR	MT-ND6	NDUFS2	HSD17B10	MT-CO2	SUCLG1	MT-TH	NDUFB8	DNM1L	COX16	CYP27A1	MT-TL1	MT-CO1	MT-TF	SCO2	SQOR	MT-ND1	MT-ND4	SURF1	HPDL	NDUFAF3	MT-ND5	MT-TS2	KARS1	MT-TQ	SDHB	COG8	MT-TW	MT-CO3
HP_ABNORMAL_BRAIN_CHOLINE_LEVEL_BY_MRS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BRAIN_CHOLINE_LEVEL_BY_MRS	PSAP	GALC	CNP	CYP27A1	NGLY1	GRM7
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	TBCK	PSAP	SLC35A2	GALC	SDHAF1	CNP	CACNA1G	ASPA	NGLY1	SDHD	GRM7
HP_ABNORMALITY_OF_OLFACTORY_LOBE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_OLFACTORY_LOBE_MORPHOLOGY	MKS1	ANOS1	PIGA	PEX1	SOX10	EDN3	MITF	EDNRB
HP_ABNORMAL_MEAN_CORPUSCULAR_VOLUME	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MEAN_CORPUSCULAR_VOLUME	SAMD9	EFL1	RPL15	MDM4	RPS24	MTRR	RPS7	GATA1	RPL5	SLC4A1	RPS20	HBB	ADA2	RPS19	RPL27	KCNN4	MMADHC	KIF23	RPL35A	RPS10	PIEZO1	RPL18	RPS17	ABCB6	RPS26	RPL31	SPTB	ANKRD11	GLRX5	RPS28	LPIN2	RPS15A	SRP54	TRNT1	RPL35	RPS29	SLC11A2	STEAP3	RPL11	SBDS	TSR2	RHAG	DNAJC21	SAMD9L	NHLRC2	RPL26	CBLIF	RPS27	SLC25A38
HP_DECREASED_MEAN_CORPUSCULAR_VOLUME	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_MEAN_CORPUSCULAR_VOLUME	SLC4A1	SPTB	HBB	GLRX5	NHLRC2	STEAP3	LPIN2	TRNT1	SLC11A2	SLC25A38
HP_INCOMITANT_STRABISMUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCOMITANT_STRABISMUS	PUS7	MED13	PTPN23	TRIP12	NTNG2	SRCAP	HOXA1	ZMIZ1	OPA1	SVBP	DDX6	SYNCRIP	TRMT1	CHN1	BCAS3	MADD	MAPK8IP3	DNM1L	SATB1	KDM4B	KCNMA1	PALS1	KIAA0586	AGO2	SALL1	CCNQ	SLC12A2	PSMD12	ARX	DOCK3	FBXW11	WDFY3	RNF2	WASF1	MED27	ACTL6A	CLCN3	HTT	UBR7	KMT2E	BPTF	NTNG1	TCF20	EP300	SPTBN1	GRIA4	PIEZO2	CNOT3	HPDL	HUWE1	CSPP1	BCORL1	RLIM	ACTL6B	TNRC6B	KAT8	SETD1A	MN1	ACKR3	CREBBP	MYT1L	TRAPPC4	EMC10	SALL4	LMBRD2	CCDC32	DPYSL5	JARID2	HS2ST1	TCF7L2	TANC2	ANKRD17
HP_ORTHOKERATOTIC_HYPERKERATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORTHOKERATOTIC_HYPERKERATOSIS	SULT2B1	SERPINB7	DSG1	CFTR	RSPO1
HP_ABNORMAL_CUTANEOUS_ELASTIC_FIBER_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CUTANEOUS_ELASTIC_FIBER_MORPHOLOGY	CYP26C1	ATP6V1E1	ATP6V0A2	ELN	LTBP1	EFEMP2	FBLN5	ALDH18A1	ATP6V1A
HP_FOLLICULITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOLLICULITIS	GJB6	KRT17	XIAP	MBTPS2	IL10RA	GJB2	IVNS1ABP	IL17RA	IL10RB
HP_BLOODY_DIARRHEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLOODY_DIARRHEA	BMPR1A	TTC37	TGFB1	ENG	WAS	SMAD4	GP1BA	ATRX	TTC7A	ITGA2	CDKN2B	SKIV2L	PLVAP	IL37	PTEN	CDKN1B	MEN1	SREBF1	ITGA2B	DAXX	ACVRL1	APC	CD109	ADAM17	TAOK1	CARD8	HPS1	EGFR	F5	CDKN2C	GP1BB	WIPF1	ITGB3	AMACR	KIF23	IL10RA	CDKN1A	GREM1
HP_EPIDERMAL_ACANTHOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIDERMAL_ACANTHOSIS	NLRP1	DSC3	KRT74	TGM1	AAGAB	LIPN	DSP	KRT1	KRT9	CIB1	KRT6C	SLURP1	WNT10A	JUP	ATP2A2	CDSN	CARD14	KDSR	DSG1	EXPH5	CLDN1	IL36RN	SMARCAD1	CSTA	IL1RN	COL14A1	KRT10	SERPINB8	SLC27A4	ALOX12B	GJB2	SERPINB7	CAST	KRT13	EGFR	CERS3	LORICRIN	GRHL2	CYP4F22	PERP	GJB3	GJA1	ENPP1	NIPAL4	AKT1	ALOXE3	KRT16	GJB6	MBTPS2	POGLUT1
HP_EYELID_MYOCLONUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EYELID_MYOCLONUS	GRIN1	PPP3CA	CSNK2B	RORB	SETD1B	DEAF1	DHFR	CACNA1I	CAMK2B	MED12L	EPB41L1	GRIN2B	BRSK2	SET	PRICKLE2	EEF1A2	ERBB4	KCNQ5	MBD5	SYNGAP1	MYT1L	ZMYND11	CIC	TAOK1	CDH15	CACNG2	TRPM3	KIF1A	DLL1	SLC6A1	ASH1L	NBEA	CUX1	KIRREL3	DYNC1H1	ASAH1	CLTC	CAMK2A	HIVEP2	DOCK8	RAB11A	RORA	TCF4	CHAMP1	KDM5B
HP_DYSGENESIS_OF_THE_HIPPOCAMPUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSGENESIS_OF_THE_HIPPOCAMPUS	SCN1A	SCN1B	GABRG2	SCN2A	SCN9A	PCDH19	NTN1	KDM4B	GABRA1	TUBB3	RAD51	DPYSL5	DNAL4	DCC
HP_CAPILLARY_MALFORMATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CAPILLARY_MALFORMATION	SMC3	MLXIPL	TGFB3	GTF2IRD2	KRAS	LTBP2	FZD2	DIS3L2	ASXL1	NAA10	FGFR1	EPHB4	CYP1B1	ROR2	MTOR	VPS37D	WNT5A	CDKN1C	DVL1	RBM8A	ELN	PIK3CA	BCL7B	TMEM270	GTF2I	NCF1	KCNQ1OT1	RFC2	IGF2	LIMK1	EIF4H	KCNQ1	GNAQ	NF1	PUF60	FKBP6	MED25	STX1A	EIF2AK4	DVL3	PLP1	TEK	BAZ1B	MYOC	NXN	H19	RASA1	METTL27	TBL2	CLIP2	NOTCH1	BUD23	EDEM3	NEK9	GTF2IRD1	TRIM37	CDK10	DNAJC30
HP_SOUND_SENSITIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SOUND_SENSITIVITY	MFF	TNF	GM2A	MLXIPL	EP300	GTF2IRD2	FKBP6	ELN	FLII	STX1A	AUTS2	VPS37D	SLC1A3	DEAF1	BAZ1B	RAI1	BCL7B	TMEM270	GTF2I	EDNRA	NCF1	METTL27	IQSEC2	TBL2	CLIP2	RFC2	CREBBP	BUD23	GTF2IRD1	LIMK1	EIF4H	DNAJC30	ESR1
HP_HYPERGRANULOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERGRANULOSIS	ALOX12B	KRT1	DSG1	LORICRIN	ATP2A2	AAGAB	GJB3	LIPN	SERPINB7	GJA1	ENPP1	CARD14	ALOXE3	PNPLA1	KRT16	KRT9	SDR9C7	POGLUT1	CERS3	WNT10A	COL14A1
HP_FETAL_DISTRESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FETAL_DISTRESS	NDUFB3	SPEN	NDUFA1	PLPBP	NDUFB9	SLC13A5	ALDH7A1	NDUFAF5	EMC10	OSTM1	NDUFS8	NDUFS3	ABCB4	NDUFAF4	NDUFB11	NDUFV1	ABCC6	CTCF	FOXRED1	NDUFA11	MT-ND3	NDUFS2	IKZF1	NDUFS4	IPO8	NDUFB10	IL1RN	ATAD3A	TTC26	ATP8B1	NDUFS7	NDUFV2	NDUFA6	TMEM126B	NDUFS6	RPL11	MT-ND1	SON	NDUFAF1	TIMMDC1	AFF2	NDUFAF2	NDUFAF8	NDUFAF3	SLC6A9	NDUFS1	ENPP1	NUBPL	MT-ND2
HP_FINGER_SWELLING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FINGER_SWELLING	MMP2	PSMB9	PSMB8	TRAPPC2	PSMB4	OCRL
HP_ABNORMAL_CIRCULATING_ESTROGEN_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_ESTROGEN_LEVEL	TP53	AR	GNRH1	BMP15	SPIDR	DMRT3	BNC1	VAMP7	ZFPM2	NR0B1	LEPR	LEP	GATA4	SOX9	POLR3H	MAP3K1	FOXL2	DCAF17	SMARCB1	FSHB	NR5A1	BAP1	POLR3A	SUFU	WT1	PSMC3IP	POR	CYB5A	DHX37	SMARCE1	NF2	NUP107	LARS2	DHH	XRCC2	TRAF7	TERT	FSHR	PDGFB	SMO	WWOX	MRPS22	NDNF	SRY	CYP17A1	AKT1	CTDP1	PIK3CA
HP_CONSTITUTIONAL_SYMPTOM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONSTITUTIONAL_SYMPTOM	TP53	NOTCH2NLC	IL12A	PRKAG2	CLCN4	ABCD1	TXNRD2	NLRP3	TBX20	PRKCSH	DYSF	FLVCR1	CTNS	MMADHC	HSPG2	PTPN3	HOGA1	EYA4	TCIRG1	TCF3	UNC45A	TGFB1	LDLRAP1	COL17A1	CHRNA2	MYH7	TWNK	ATRX	MT-TK	IGHMBP2	SMARCE1	HELLPAR	PAX2	REEP2	MYF6	ALOXE3	ANK2	DLST	SI	PYGL	TBCD	TRAF3	PHKB	DMP1	NEFL	CCN2	TRAF7	DIS3L2	RIPK1	POLG	ACADVL	LMNA	FTL	STAT4	STIM1	BCR	SYNJ1	TIMM50	HPGD	MVK	LRRC8A	NTN1	IL12RB1	CLCN5	IGHM	FLNC	CASR	UNC93B1	CALR	EHHADH	RTN2	PDGFB	KCNH2	CAV3	PSAP	CHEK2	NOTCH3	ELANE	TBK1	NIPA1	KCNE1	SRP54	IDH1	SLC34A3	NUP37	CALM3	TRAPPC11	IL1RN	LRP5	BAP1	EPCAM	DCTN1	JAK2	ZNF711	POLG2	AMT	TONSL	PCSK9	GBA2	TERT	GALNT2	FHOD3	HBB	POU2AF1	VHL	MATR3	PIK3CA	PKDCC	SCNN1G	GAPVD1	SLC44A1	LACC1	ARNT2	MPL	DNM2	AUH	REST	GNAS	ELN	H19	POMGNT1	IL21	TBX1	SDHAF2	FMR1	PRKAR1A	COL9A1	RNF6	RABL3	FKTN	LHX4	HLA-DRB1	COL2A1	ARSA	TREH	CHMP2B	NLRC4	CORIN	SLC25A13	PON3	MS4A1	SLC26A2	MINPP1	RET	RRM2B	FKRP	BUD23	SPINK1	TRIP13	DNAJC30	SPTB	SDHB	PRKRA	SLC34A1	SPTLC1	SNX10	BRCA2	SAA1	HSPD1	ZFTA	RNASEH1	DSG2	HACD1	SCN1B	LDHA	DSTYK	TET2	DNAJB11	MT-TE	GUCY2C	NOD2	CHST3	FIP1L1	HLA-B	USP27X	VANGL1	PRDM5	TMEM127	SEPTIN9	HPDL	STX16	GLA	CDKN1B	ZNF81	VAPB	CACNA1G	DPM3	UBQLN2	SPAST	IL18BP	POLR3GL	NF1	TBC1D8B	COMP	ABCC2	HTRA1	WASHC5	AIP	TSHB	GNA11	ASAH1	TGFBI	GABRG2	CALM1	SLC40A1	LIG3	NUP85	FGF13	ALDOB	NKX2-5	FIG4	DDIT3	STEAP3	AMPD3	KRT6A	MLH1	MAFB	KPNA3	MYO1E	SCN5A	TNXB	OPLAH	TNFSF12	IRAK1	COL4A3	UFD1	EMD	KRT5	POMT1	HLA-DQA1	PIGT	TRPM4	PFN1	XPA	RYR2	SLC25A26	TRAPPC2	MME	SMAD4	DMD	PDGFRA	MFN2	SLC39A14	CLCN7	MYL3	SEMA4A	ACSL4	SMARCB1	PRDM8	UBR7	MSTO1	PSMB4	MDH2	TSC2	RETREG1	SUFU	EPHA4	DDHD2	TBXT	MYL2	PRNP	PMS2	TGFB3	COL3A1	MAPK1	DLEC1	MED12	ERCC4	NAB2	COQ2	LMNB2	CTRC	CPT2	XPC	CACNA1C	ZBTB16	ENO3	CD79B	PIGA	DSC2	RUNX1	CPOX	AMPD1	SOX2	VCP	ABCB4	MESP2	TAF15	NFKB2	NUP133	CFTR	PTH1R	SQSTM1	SCN4A	RB1	UBAP1	NUP93	CACNA2D1	SCN4B	DLL3	LRIG2	SCN10A	BAZ1B	HGD	SDHC	ACSF3	KCNC3	WIPF1	ARX	HNRNPA1	RNF168	SERPING1	PON2	POLE	EDNRB	MRAP	GALC	KCNQ1	GPR101	SYK	NPHS2	COQ8B	FUS	PPARG	NUMA1	GJC2	ERBB2	ATP7B	TRHR	CALM2	HESX1	MMUT	GBA	LPIN1	TNFRSF1A	SLC11A1	FH	UPF3B	RPS6KA3	PTEN	MT-CO1	TNFSF15	HLA-DQB1	ACTN4	ZMYM2	SREBF1	FMO3	TK2	UNC13A	TGFBR2	FITM2	ARHGDIA	ERCC2	WT1	MC2R	SEMA3C	CLIP2	SERPINF2	FAS	GTF2IRD1	UNC45B	RYR1	HCFC1	SACS	WNT1	ALS2	YY1	OPA1	SFRP4	SDHA	G6PD	GTF2I	CTLA4	PKP2	NPPA	TCF4	ACAT1	PGAM2	CASQ2	IGKC	PTPN22	TAFAZZIN	SPP1	LPIN2	ALG9	DCC	DNAJC19	NABP1	ALB	SYNE2	KCNE2	RASA1	KY	NTRK1	FA2H	COL5A2	SMAD3	AGK	FDX2	GNAQ	KIF1B	LEMD2	TRIM28	ABCC6	SLC1A4	SLC18A3	RPS20	LDLR	AKAP9	ZEB2	CLCN1	NRTN	BNC2	CCL2	IQSEC2	MYH11	COL8A2	C19orf12	OTX2	COL9A3	FGF23	SLC25A4	TH	CCN6	ASPN	DES	SPTA1	POU1F1	PROKR2	JUP	IGLL1	ACTA1	PEX11B	TLR3	APRT	GATA2	HBA1	NUP160	BCL6	AGXT	HEXB	PREPL	PIGF	CD2AP	MEFV	SLC4A3	TLR4	MYOT	SOD1	CCR6	ERBB3	NPRL2	EMP2	CD55	HAVCR2	PRKG1	PNPLA2	PTPN2	KRAS	PKD2	VSX1	CPT1C	MYH6	TRDN	CR2	ERCC5	SPIB	NR3C1	SDR9C7	CDH23	PHEX	CYP2R1	FRMPD4	NEK1	TBX19	PODXL	ACTC1	GBE1	TMEM43	STAT6	BICC1	BMPR1A	PPARGC1A	CNBP	COL11A1	IFNGR1	ABCB11	COL11A2	TBX18	ABL1	DNA2	FOXE1	ATP13A2	SRSF2	LMX1B	PRTN3	CYP4F22	MYLK	TNNT2	TNNC1	SLC2A9	FAN1	PHKA1	SYNE1	HLA-DPB1	MTTP	ATP8B1	NPM1	IDH2	DAXX	IL23R	INSR	TRPS1	IVNS1ABP	ERBB4	ASXL1	CSRP3	CEL	PPOX	MLXIPL	PRPH	LRP1	DNAJC6	GCGR	CD79A	SELENBP1	LBR	ZNF41	SCN9A	TYROBP	NOP56	BTNL2	FTSJ1	OPTN	STAR	HADHA	PIEZO1	PSMB8	ALDH18A1	NR1H4	PROP1	HADHB	TTN	NOS1	TSC1	FOXP1	NF2	IL10	SLC20A2	KIF5A	ARVCF	TPM3	FOXA2	SLC4A11	NOTCH2	RAD51	CNKSR2	AKT1	MFAP5	COL9A2	LRIF1	SERPINA6	ATXN8OS	NNT	FHL1	ALOX12B	VANGL2	GRHL2	ECE1	SOX3	TSHR	NSDHL	SCN1A	FARS2	SCNN1A	CITED2	HS6ST2	DAO	DACT1	CRB2	WNT3A	TYMP	ACAD9	EPOR	IFT57	ALDH4A1	GLDC	SPG7	CARMIL2	CDC73	ZEB1	PIK3R1	COL10A1	ADNP	CRPPA	HMBS	IKZF1	KRT17	MITF	SEMA4D	ATL3	AKAP10	CRH	GLT8D1	KCNN4	AGBL1	STX1A	CDKN2A	CD28	THPO	CYP27B1	COL7A1	TMEM126B	ALG13	KRT16	NGLY1	JMJD1C	SLCO2A1	GTF2IRD2	GLI2	MSMO1	MEN1	GATA6	RNU4ATAC	APOL1	GNAI2	MAX	SH3TC2	COQ7	NUP205	TGFB2	KLRC4	COL5A1	IRF2BP2	TTR	ACTG2	CHRNB2	HFE	LMNB1	CTNNB1	TRPC6	NDUFAF6	MLYCD	CYP7B1	KIT	MALT1	FSHR	NPHS1	IL12A-AS1	NOS1AP	CDKN2B	MAT2A	MNX1	TBX5	TNNI3	EIF4H	JAG1	DNAL4	APOB	KRT6B	ATM	C1QBP	PLN	GCK	ERAP1	DSE	KCNT1	LRP6	COL1A2	CYSLTR2	CRKL	SLC18A2	MLX	ATP7A	F8	F12	PYGM	DNMT1	SH2B3	COPB1	SPTBN1	HRAS	ALMS1	MIF	GATA4	ATXN3	PLCE1	FLI1	ESR1	METTL27	USP9X	PKD1	GATM	RELA	GANAB	ENPP1	MYC	AP2S1	APC	COL4A6	SLC4A1	MSH2	COL14A1	FKBP6	POMP	FLT1	IRF5	PDCD1	ICOS	CABP4	ERLIN1	CAT	ZFYVE26	ZNF469	SLC2A10	TFR2	CLCF1	CCND1	VPS37D	TRPV4	NLRP12	MATN3	VWA1	C4A	C9orf72	SLC26A4	SMAD2	MT-TL1	CCDC78	STUB1	CRLF1	SCNN1B	ANXA11	SALL1	LIPN	KIF11	CCNF	TECRL	ANG	ANK1	ARHGAP24	CDH2	ATL1	HEY2	PRKCD	TREX1	MT-ATP6	MECP2	ADA2	ACP5	PORCN	TNFRSF11A	CASK	MYBPC3	GFI1	ABCA12	STAT3	CD19	TICAM1	SLC22A12	TBP	ISL1	PLCG2	GCH1	PSTPIP1	CHCHD10	EXT1	HNRNPA2B1	NUP107	ANO5	BRCA1	CFI	NEXMIF	MTMR14	WAS	VDR	UBAC2	EDN3	PALB2	AP5Z1	DKK1	SLC12A3	MDM4	HIRA	ATXN10	ALAD	CACNA1H	HPS1	PAX8	ARMC5	STOX1	SDHD	SOST	PHKA2	GJB2	CD244	CCR1	TSPAN7	KCNJ5	BVES	LEMD3	NPRL3	CAPN3	SEC24C	PROC	TLL1	ZNF687	CHST6	MYH3	CFAP410	WWOX	IL1RAPL1	EPB42	KCND3	DDB2	RBM20	TAB2	TBX6	HABP2	RBCK1	PROS1	ALDOA	MTHFD1	EIF2AK4	MORC2	PSMB9	OTULIN	PIGY	HBA2	SF3B1	MAN2B1	CD81	FBN1	PLP1	CHRNA4	MAT1A	SELENON	CBL	PNPLA8	ALG10B	GPR35	HEPHL1	ERCC3	HACE1	SOX10	TBL1XR1	TGM1	PTCHD1	PDGFRB	RREB1	CDKN2C	BCL10	GJB6	TARDBP	PTPN11	EPB41	TNPO3	TGFBR1	COMT	BIN1	MYO1H	CFH	DNM1L	NCF1	SLC25A11	COPA	CDKN1A	ABCA1	TRIO	SBF1	MMP2	DPP6	GNPTG	ZMPSTE24	DNMT3A	EXT2	ANKH	LPL	PMP22	CLCNKB	PHKG2	SPTLC2	ITGA7	EWSR1	JRK	EIF2AK2	MTX2	ARHGEF6	TNFRSF1B	BCL7B	B2M	FGFR1	NFKBIL1	PRSS1	HLA-DPA1	BIRC3	GABRB3	IL6	KRT14	CAV1	TSPOAP1	NKX2-1	CASQ1	GDNF	MAP3K20	CIITA	ABCG8	HMGCL	UBA1	CPA1	SVIL	MYD88	GCSH	SCARB2	ENG	ACADM	BCOR	SIGMAR1	PLEC	DDRGK1	BCL2	MLH3	PON1	DNASE1L3	RFC2	ATXN2	MAGI2	GYPC	KCNJ2	TREM2	DLG3	SMO	CD46	PML	FERMT3	COL1A1	TPM2	GRM1	CARS2	KL	SCN11A	POU6F2	HARS1	C1S	IGHG2	AAGAB	TEK	RAB39B	PANK2	IL12B	HS3ST6	GNA14	BMP2	AGTR2	SLC3A1	CAPN1	ORAI1	SPG11	CHRND	COG5	ANKRD55	FN1	IL2RA	FUZ	MEF2A	DGUOK	BTK	DEPDC5	GHSR	IL2RB	F5	GP1BB	PAK3	BSCL2	MYLK2	SNTA1	STK11	PLEKHM1	STING1	SLC2A1	IRF4	TRIM32	DMGDH	CTSK	GDI1	LIMK1	TNFRSF13B	KIF23	BLNK	MMEL1	GNE	GPD1L	STAT5B	GLE1	OPA3	SEC63	SLC9A7	MT-CO3	FAR1	ABCG5	NIPAL4	LHX3	NFKB1	PGK1	CPT1A	PGM1	PRSS2	TP63	CD247	PTPRO	SYP	PALLD	TNFSF11	P4HA2	SLC34A2	GABRA1	GNB2	PKHD1	KIF7	ANLN	TBL2	TNFRSF11B	UFSP2	ALAS2	GIMAP5	SEMA3D	MCM6	LOX	DSP	MET	COX6B1	RARA	TMEM270	CAVIN1	NAGS	PMS1	MID2	ACTA2	GPC3	MMP1	TRPA1	COL4A5	LDB3	STEEP1	SLC9A6	CLDN16	MSH6	HPSE2	SLC22A4	TNFRSF13C	CARD8	MST1	SULT2B1	NEFH	DBH	FOXE3	POLR3A	CFAP43	DTNA	DPYSL5	CYP19A1	OVOL2	ANKFY1	EPAS1	HNF4A	INF2	MIEF2	ZC4H2
HP_CHILLS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHILLS	TICAM1	HADHB	TBK1	HADHA	TLR3	SPTA1	MVK	PKHD1	ANK1	HAVCR2	EPB42	UNC93B1	NLRP3	GYPC	SLC4A1	SPTB	EPB41	TRAF3
HP_ABNORMALITY_OF_HEPATOBILIARY_SYSTEM_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_HEPATOBILIARY_SYSTEM_PHYSIOLOGY	AKR1D1	TNPO3	RINT1	CYP7B1	MRM2	DKC1	MPV17	FAH	HLA-B	MT-ND3	ASAH1	PEX3	PNPT1	SCO2	SURF1	RNU12	BTNL2	POLG	HADHA	OSTM1	PEX19	TCF4	CC2D2A	MED12	MMEL1	F13B	ALG1	QRSL1	NHLRC1	VPS51	FH	HADHB	INPP5E	SRSF2	ATRX	PEX13	PCK1	TMEM199	COX16	SLC25A20	HBB	EIF2AK3	IL12A	XIAP	CTC1	DLD	COG2	MPI	MARS1	GALT	DEF6	PEX10	CPT2	ADK	PCK2	PEX2	SMAD4	SC5D	STT3B	HSD3B7	IL12RB1	ABCD3	TJP2	CALR	NPM1	CPT1A	EPM2A	ALG3	PEX6	LIPA	ALMS1	ACVRL1	SERPINA1	GALM	RTEL1	RMND1	PEX12	FECH	P4HA2	NDUFB8	JAG1	TRMU	UBR1	ATP7B	TRMT10C	ACAD9	TET2	LARS1	MT-TW	PEX26	DDOST	NDUFAF3	NHP2	HMGCL	PARN	HADH	PEX16	POU2AF1	SP110	MRPS23	MT-ND1	PTPN22	MT-TL1	RUNX1	PEX1	MT-TT	ACADM	BLVRA	SMPD1	PEX11B	IKZF1	CCDC47	USB1	NR1H4	GBE1	FBP1	LIPT1	MICOS13	COA8	FARSB	SEMA4D	OCLN	CYC1	NAGS	PEX5	COG4	FADD	TALDO1	NDUFS4	SLC25A15	GDF2	GATC	MEFV	DGUOK	IRF5	SPIB	ALG8	MT-TK	RYR1	COQ2	USP18	ITCH	BAAT	TERC	JAK2	LRPPRC	MTM1	MT-TV	MT-ATP6	MT-TN	SH2D1A	SCYL1	STX11	IFT122	PEX14	RPGRIP1L	HLA-DRB1	GFM1	CBL	TFAM	ACTG2	NOP10	MT-ND2	GPR35	IL21R	NPC1	SLC39A8	CEP164	SLC2A2	GBA	LYST	MT-ND4	MST1	CACNA1S	TNFSF15	STXBP2	MT-ND6	HFE	IARS1	GANAB	ZNFX1	NDUFS2	TTC37	UNC13D	NBAS	TINF2	WRAP53	ATP6AP2	AMACR	CCDC115	MT-ND5	ALDOB	TERT	DAXX	COG7	ENG	SLC30A10	SLC7A7	IFT172	F13A1	UQCRC2	F5	POLG2	BCS1L	ASXL1	LARS2	TMEM67	OTC	PORCN	MRPS7	PRF1	IL18BP	PARS2
HP_HYPERAUTOFLUORESCENT_RETINAL_LESION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERAUTOFLUORESCENT_RETINAL_LESION	POMGNT1	KIF3B	PRPH2	CFI	ARSG	CCDC28B	KIAA1549	IDH3A	GUCY2D	BBS1	EFEMP1	GUCA1A	ARL6	CFH	TLCD3B	CFAP418
HP_HYPOAUTOFLUORESCENT_RETINAL_LESION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOAUTOFLUORESCENT_RETINAL_LESION	RPGR	CFI	EFEMP1	CWC27	CFH	TLCD3B
HP_ABNORMAL_TEMPER_TANTRUMS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TEMPER_TANTRUMS	KAT5	TACO1	MAGEL2	SIM1	ADNP	NDN	PACS1	OCA2	SNRPN	SRCAP	GBA	TUBB2B	FMR1	TAOK1	USP7	CTCF	CLCN3	PPP2R5D	CNTNAP2	CTNNB1
HP_LEFT_VENTRICULAR_SYSTOLIC_DYSFUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEFT_VENTRICULAR_SYSTOLIC_DYSFUNCTION	SLC25A4	TTR	TTN	POMT2	TWNK	POLG2	ZMPSTE24	SCN5A	SGCG	GTPBP3	RRM2B	SDHD	ACADVL	B2M	ABCC6	COA6	DYSF	NPPA	POLG	LAMA2	FHOD3	LMNA	SLC6A6	RPL3L	PPCS	ENPP1
HP_HONEYCOMB_LUNG	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HONEYCOMB_LUNG	DSP	MUC5B	ABCA3	SFTPA1	TERT	ATP11A	TERC	PARN	RTEL1	FAM13A	DPP9	SFTPC	STN1	SFTPA2
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	UBE3A	NARS1	COX8A	GABRG2	SCN9A	GAD1	ADGRG1	PURA	GABRD	EFHC1	GABRA5	TMX2	PCYT2	GRIN2A	CILK1	GBA	TSEN54	TSEN34	KCNQ3	VPS53	JRK	COQ5	TSEN15	PTEN	SCN1A	SCN1B	SYNGAP1	SLC6A1	SCN2A	TSEN2	PCDH19	SLC2A1	CHD2	EXOC8	SEPSECS	ASAH1	GABRA1	CLCN2	TBC1D24	NEXMIF	SLC9A6	AP2M1	CPLX1	CACNB4
HP_ABNORMAL_CIRCULATING_APOLIPOPROTEIN_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_APOLIPOPROTEIN_CONCENTRATION	ATP6V1E1	LPL	MTTP	APOC2	CCT5	ATP6V0A2	ATP6V1A
HP_PARASOMNIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARASOMNIA	MAGEL2	KCNT1	CRH	CHRNB2	SLC25A13	SIM1	CHRNA2	TFAP2B	DEPDC5	CABP4	CHRNA4
HP_SOMNAMBULISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SOMNAMBULISM	KCNT1	CRH	CHRNB2	CHRNA2	DEPDC5	CABP4	CHRNA4
HP_CONFUSIONAL_AROUSAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONFUSIONAL_AROUSAL	MAGEL2	KCNT1	CRH	CHRNB2	SIM1	CHRNA2	DEPDC5	CABP4	CHRNA4
HP_CUTANEOUS_CYST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTANEOUS_CYST	APC	MSX2	TSC1	KRT6A	VANGL1	CTNND1	KRT17	CDH1	ALX3	TSC2	ANTXR1	CEP57	KRT5	SYT1	PSENEN	POGLUT1	KRT16	POFUT1	TFAP2A	ZSWIM6	KRT6B
HP_DERMOID_CYST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DERMOID_CYST	SYT1	MSX2	TFAP2A	ZSWIM6	ALX3	VANGL1
HP_SNORING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SNORING	PLCB4	GNAI3	HEPHL1	AHDC1	GPR101	EDN1	GUSB
HP_STUTTERING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STUTTERING	MT-CO1	MT-TF	MAPT	KANSL1	CHD3	NEXMIF	MT-ND6	MT-ND1	MT-ND4	MT-CO2	MT-TH	MT-ND5	AP4E1	MT-TS2	MT-TQ	SCYL1	LAS1L	MT-TW	MT-CO3	MT-TL1
HP_ABNORMAL_ESOPHAGUS_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ESOPHAGUS_PHYSIOLOGY	RERE	SLC6A3	TARDBP	KAT6A	MYO9A	AGRN	PYROXD1	CACNA1I	NALCN	KIT	CDKN2B	STUB1	MACF1	PRKCSH	PCNA	YARS2	CHCHD10	TGIF1	TRAPPC11	ATXN1	EIF4H	JAG1	CYP27A1	PAK1	SIX3	EXOSC5	KATNB1	TTC26	LIFR	RNASEH1	PTCH1	TWNK	UBB	TECPR2	POLR3A	HTT	SRCAP	TWIST1	CDON	SLC5A7	EBF3	ERBB4	TRIP4	MT-ATP6	MYT1L	TBCD	RPL10	FGFR1	ALS2	SPG7	CCN2	COLQ	GRHL2	MSR1	ASAH1	GBA	TAF1	POLG	ARNT2	SLC6A9	SMC3	TBX4	SEMA3E	ERLIN2	ARV1	SLC52A3	EHMT1	SQSTM1	GMNN	PUS3	CENPT	ATP1A2	SHANK3	DNAJB6	STIL	SKI	KMT2C	GALC	KY	PSAP	SMC1A	ATP1A3	NODAL	CRYAB	KNSTRN	ASPA	PLP1	NOTCH3	CHRNA1	CHAMP1	PSPH	CAV1	ALMS1	BRAF	FUS	NIPBL	SPG21	LRP5	UBA5	DEAF1	NDUFAF2	MAPT	SOX5	ZIC2	POLG2	ATXN3	REPS1	ZSWIM6	IRF6	TSEN54	CSPP1	SYT1	MEIS2	GBA2	FLNA	DISP1	NRXN1	METTL27	SYT14	DHCR7	GABRB2	NPC2	PIGN	DYRK1A	VAMP1	SNCA	ALDH18A1	STN1	MT-ND1	GRIN1	SLC44A1	SPEN	NEDD4L	ADAT3	LONP1	KAT6B	RAD21	PLAA	DAB1	PLA2G6	COL13A1	NPHS1	GNAS	ATXN7	CACNA1A	ELN	WNK1	TBX1	FERMT1	GLUD2	SLC1A2	COL4A6	VARS1	KCNA2	NGLY1	FARSB	AARS1	NUP214	CDC73	TDGF1	MYPN	IDH1	KCNQ3	PTS	SLC52A2	PPP3CA	ATAD1	OCA2	FKBP6	BRD4	FGF8	CREBBP	TBK1	KCND3	DGUOK	SET	ACTL6B	MT-TK	STAC3	RAI1	KCNK9	GAS1	RRM2B	PNKD	BUD23	WFS1	GCH1	MSL3	DNAJC30	CLCN1	SLC2A10	PRKRA	ARX	SPTLC1	DLL1	MFF	SIAH1	VPS13A	SETD1B	NR4A2	KLHL41	RETREG1	CCR6	ASCC1	VPS37D	AASS	FBN1	EP300	SATB2	FAM13A	GABRA5	RARS1	HACD1	KIF5A	TCF4	B4GALNT1	SCARB2	PDHA1	RAB11A	CRLF1	SLC1A3	GON7	MT-ND6	CNKSR2	PARS2	MECP2	SHH	TSPYL1	ACTA1	KLHL40	ADGRG1	NF1	NECAP1	ABCD1	CLTC	ORC6	CLCN4	PLXND1	HPDL	MATR3	GLA	CACNA1G	AFF4	PORCN	STAG1	SUPT16H	TPM2	HDAC8	PIEZO2	QDPR	SLC6A5	KIF1A	CTCF	CYP7B1	SCO2	CTBP1	SLC19A3	STAG2	DDOST	IRF5	CNTNAP1	TBP	SYNJ1	CHRNE	TFAP2A	LRP12	HLA-DQB1	KBTBD13	LIG3	NUP62	ALG12	PRKCZ	NEB	GMPPA	EXT1	NEFH	MMP1	GABRA2	GLRB	SCUBE3	LRRK2	NEXMIF	GLI2	ABCA3	FGFR3	UFD1	FTL	EDEM3	DNAJC13	HLA-DQA1	NDUFA9	ECM1	SDHC	ARID2	PIGT	LINGO1	TTBK2	ORC1	ATXN2	DKK1	SYT2	PACS1	USP9X	KLHL7	HIRA	KCNAB2	CHAT	ATXN10	CIC	ARHGAP29	TSEN15	WASHC5	PDGFRA	ARFGEF2	HCN1	STAT3	FGF10	AOPEP	NBEA	OCRL	GUCY1A1	DDC	PRPS1	HLA-B	PARN	SETBP1	PDPN	MAP3K7	HGSNAT	DDHD2	NDUFB8	REEP1	MYL2	SLC25A22	ELP1	NDUFS1	APP	NDUFA6	SEC24C	ITCH	MAPK1	HIVEP2	TPM3	EXT2	ARF1	LTBP4	PIGA	SLC12A2	COL7A1	APC2	AFF3	VPS11	HSPG2	POGZ	SYNGAP1	CPLX1	SDHD	PRPH	BAP1	MT-TT	MED17	PIK3R5	KIAA0586	CELF2	USP7	MEGF10	MRPS25	SPTBN4	GRM7	SCN4A	KMT2A	GNB5	NOTCH2NLC	ASCL1	PMP22	PHGDH	CLN8	MAP2K2	TERT	ATL1	MYORG	CDKN1B	BAZ1B	GABRG2	FMR1	SLC19A2	EPRS1	KCNC3	PANK2	ACOX1	MT-TV	ERCC8	SOD1	HTRA1	NOP56	SELENON	CCDC22	TFG	PCGF2	COQ4	SEC23A	TRAPPC12	KCNQ5	KIAA0319L	NUTM2B-AS1	MT-ND4	MED12L	C9orf72	GEMIN4	SPG11	ASXL3	SLC35A2	ATN1	FGF13	TANGO2	RELN	PFN1	SEC31A	PEX16	RYR1	ZMYM2	FUZ	FOXG1	TK2	FOXH1	AAAS	MED12	SDHB	ERCC6	BRSK2	DHDDS	MT-ND5	MAP1B	TAOK1	RREB1	IQSEC2	CDKN2C	CLIP2	NDUFS3	PRKCG	GTF2IRD1	UNC45B	NEU1	DALRD3	SACS	UBE3A	COMT	MYO1H	OPA1	PRNP	FLCN	GIPC1	DNM1L	KCNQ2	MT-ND3	CDH15	FXN	GTF2I	NCF1	MRPS34	ARSL	TIMM8A	DYSF	SCN3A	YY1	SUCLG1	NEK1	NTRK2	CDKN1A	SZT2	AMER1	ADCY6	TOP3A	SLC25A1	HPCA	ACTB	ATP13A2	HPRT1	CACNG2	CHD7	DLG1	ATG7	LAMA2	NTRK1	COL5A2	POLR3B	YWHAG	SFTPA2	MID1	SPTLC2	SLC25A24	DSP	WAC	ITGA7	CAMK2B	PLEC	TERC	SLC1A4	NECTIN1	ZMYND11	ZEB2	IRF2BPL	ACADVL	BCL7B	SMG9	TRPM3	KCNB1	ASH1L	AFG3L2	PPM1D	C19orf12	MYH7	WDR26	NEPRO	MTRFR	TP63	SLC25A4	POR	ATRX	PRDM16	MYOT	MAP3K20	MSX1	ATP7B	HOXB1	TRMT10C	NSD2	MT-TW	NDUFAF3	ZFYVE26	GRIN2D	MAGEL2	SNRPB	FIG4	TUBB4A	FCSK	CAMTA1	ATP6V1B2	TGM6	FBXO7	DMPK	SIGMAR1	POLR2A	PRICKLE2	ASXL1	SLC46A1	TUBB6	EEF1A2	RFC2	IARS2	CAMK2A	PIEZO1	MYH8	COL1A1	CARS2	BICRA	GCDH	VCP	IRX5	COQ2	FA2H	SON	ADD3	BLM	AP3B1	DYNC1H1	NONO	PI4KA	REV3L	LRPPRC	MYH11	GLRA1	OPTN	MRPS28	KDM5B	APOE	COL2A1	SLC2A3	MADD	CYFIP2	FLII	HNRNPH2	GFPT1	GIGYF2	FLAD1	DCTN1	SLC13A5	SFTPC	FGFR2	DNM1	SALL1	PIK3CD	ADAMTS2	CHRND	SMARCA2	EIF4G1	TMTC3	EXOSC9	SDHA	CSNK2B	ANKRD11	MUC5B	PYCR1	SATB1	SETX	RLIM	HLA-DRB1	IDH2	DPP9	IVNS1ABP	GP1BB	AGO2	GRHL3	XRCC1	AP3B2	NDE1	LMOD3	MLXIPL	HSD17B10	ABCD4	CDKL5	FRG1	SRPX2	MCEE	TBC1D24	LBR	GRM1	SURF1	GDAP2	LIMK1	GNAQ	MPZ	MECR	PGM3	PUF60	SFTPA1	NOS1	SPOP	NUS1	CHRNA3	UBE4B	LMX1B	SCN8A	ARVCF	SEC63	SNAP25	DCX	PHOX2B	SNCAIP	PAX7	AR	RNF125	CDC6	CDK19	NF2	MINPP1	UBTF	DDB1	NSD1	ZNF699	RTEL1	CHMP1A	LAMB2	PDP1	SETD2	ATXN8OS	TSEN34	MBD5	SAMD9	SEPSECS	CUX1	KIRREL3	GPHN	MYMK	TBC1D23	MMP23B	UBQLN2	FARS2	MGAT2	STXBP1	CACNA1B	ATP11A	EPB41L1	GNB2	SLC37A4	RHBDF2	GNAO1	TYMP	TBL2	ALDH4A1	CARMIL2	TIMM22	WWOX	MT-TL1	ADNP	FGFRL1	SCN9A	GNS	HMBS	SPECC1L	FBXL4	PABPN1	IKZF1	CCDC47	TMEM270	CAVIN1	TSEN2	NCAPG2	ATL3	DLX4	CTHRC1	STX1A	ATP6V1A	ERMARD	GRIN2B	TRAK1	ADAR	PSEN1	COL4A5	BMP4	SLC18A3	CASZ1	ADAMTSL2	LMNB1	PYGM	SIK1	SLC9A6	JMJD1C	SHROOM4	GTF2IRD2	FLVCR1	ADH1C	SH2B1	MT-ND2	WARS2	MEN1	PDE8B	SPART	FGF12	LETM1	NPC1	HRAS	LUZP1	ATP7A	RET	VPS35	DOCK8	SSR4	IPO8	CTNS	COL5A1	ACTG2	NDUFS2	GABRD	DPYSL5	NEUROD2	COG7	EIF5A	VAPB	ALG9	VAC14	GJB1	MGME1	ORC4	NFIX	ZC4H2	SERPING1	CDH1
HP_ABNORMALITY_OF_SKIN_ADNEXA_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SKIN_ADNEXA_PHYSIOLOGY	NF1	TP53	EDARADD	GABRA3	DKC1	ITGB4	PERP	YY1	KRT14	TP63	PRNP	KRT9	EDAR	KCNJ11	BRAF	HLA-B	POLA1	SMARCAD1	TRPV3	SLURP1	COL6A1	TAT	AIP	SLC25A11	SCN9A	COL6A2	MAX	MBTPS2	VHL	HINT1	SUCLG1	ABCC8	CACNA1S	KRT6B	ALOX12B	ALOXE3	KRT1	GMPPA	UCP2	KRT6A	IGHMBP2	FOXP1	DNMT3A	COL17A1	TRIP4	DLST	MEN1	CTC1	NECTIN1	CTSB	GPR101	PHOX2B	NGF	CLCNKB	HESX1	KRT5	SLC18A2	NTRK1	MLX	GHR	TGM1	SPTLC2	SCN11A	HPGD	SLC12A3	EDA	LAMC2	BCS1L	ERCC8	NPM1	PKP1	SHANK3	HNF1A	CRLF1	FGFR1	SDHB	KIF1A	KCNJ18	ATP1A3	TRAF6	DSG1	DDC	CLCN6	COL6A3	CACNA1A	KDF1	SOX3	MDH2	RTEL1	BIRC3	NFKBIA	WNT10A	RETREG1	FUCA1	P4HA2	COG6	GJB2	SLC13A5	TSPEAR	KIF1B	IGF2	ELP1	SERPINB7	KCTD1	TMEM127	PROKR2	JUP	CST6	SLCO2A1	CSTB	COQ2	ERCC4	RSPO1	NHP2	STIM1	SOX10	PARN	STS	FAM111B	PTPN22	ARNT2	HEXB	MPL	LIFR	RET	ADAT3	SDHD	ALPK1	PLAA	SOX2	HMBS	WNK1	USB1	KRT17	MAP2K2	SDHAF2	FLRT1	KCNA1	RIPK4	ATL3	KLC2	LAMB3	CDH23	GLA	ATL1	CASK	THPO	CERS3	HNRNPK	ROGDI	ERCC6	SDHC	ELOVL4	TERC	LMNB1	NIPAL4	KRT16	CUL4B	IL12B	GNA14	JAK2	NGLY1	SPTLC1	CLCF1	ABCA12	HLA-DRB1	COL11A1	MADD	ATP1A2	NOP10	NLRP3	DST	MAP2K1	IKBKG	ALX4	RYR1	FH	ZFHX2	ZFHX4	SLC1A3	ARX	CFTR	CTNS	ITPR2	PRDM12	OTX2	PNPLA1	TINF2	WRAP53	SDHA	COL25A1	SPR	ALDOB	TERT	H19	CLDN10	EPAS1	HNF4A	ST14	LAMA3	BCL10	GJB6	EDA2R	MALT1
HP_CERVICAL_LYMPHADENOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CERVICAL_LYMPHADENOPATHY	HMOX1	SLC29A3	RASGRP1	RAC2	ELANE	TNFRSF1A	DEF6
HP_MALAR_RASH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALAR_RASH	CTLA4	DNASE1	FCGR2A	FCGR2B	IRAK1	STING1	CASP10	SPP1	BLM	PTPN22	CDK10	STAT4	TREX1
HP_OVARIAN_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVARIAN_CARCINOMA	PALB2	KRAS	BRCA2	SUFU	PALLD	RABL3	PTEN	CDKN2A	PTCH2	RAD51C	PRKAR1A	SMAD4	TP53	BRCA1	PTCH1
HP_ABNORMAL_ARTERIAL_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ARTERIAL_PHYSIOLOGY	PTPN22	IL12A-AS1	CALR	SERPINC1	PLOD1	ENG	AGXT	MLXIPL	MPL	TGFBR1	IL12A	LBR	MYBPC3	LOX	STING1	COL4A1	RNF213	APP	HLA-B	MAT2A	TBX20	ADAR	ELN	TGFBR3	PIK3CA	COQ2	TMEM270	GTF2I	TLR4	ACTB	ABCC6	CTLA4	NCF1	RFC2	NT5E	SMARCAL1	TET2	NPPA	ACP5	IL10	TREX1	LIMK1	XYLT1	EIF4H	ACTG1	PRKG1	COL1A1	NKX2-5	NAGS	PIK3C2A	JAK2	FKBP6	ACTA2	STX1A	GLA	COL1A2	ERAP1	GDF2	SPP1	ZMPSTE24	SLC2A10	THPO	CITED2	BAZ1B	COL3A1	THSD1	BRCC3	SON	FKBP14	RASA1	CBS	TGFBR2	IRAK1	BUD23	CLCNKB	LMNA	RNF125	MLX	COL5A2	RNASEH2C	IL12B	STAT4	FBN1	DNAJC30	UBAC2	MYH6	SMAD4	ACTC1	ENPP1	KRAS	IFIH1	MFAP5	GTF2IRD2	HLA-DRB1	RNASEH2B	SLC12A3	SMAD3	IFNGR1	MEFV	EPHB4	PLOD3	VPS37D	CTNNB1	SCN5A	GATA6	BRAF	C4A	BCL7B	SH2B3	PRTN3	SMAD2	HTRA1	IKBKG	HLA-DPA1	GUCY1A1	NOTCH3	TP53	TGFB2	ALMS1	MYH7	SCNN1B	FOXE3	ACVRL1	ANGPTL6	HLA-DPB1	KLRC4	COL5A1	MYLK	ADA2	GATA4	P4HA2	SCNN1A	XYLT2	CCR1	SCNN1G	GNB2	TGFB3	TLL1	IL23R	HEY2	METTL27	TBL2	CLIP2	RNASEH2A	MYH11	FAS	GTF2IRD1	ADAMTS13	SAMHD1
HP_UPGAZE_PALSY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPGAZE_PALSY	ATP13A2	AASS	KCNC3	VPS13A	ATXN1	DLAT	POLG	PLA2G6	TWNK	FTL
HP_DELAYED_ABILITY_TO_STAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_ABILITY_TO_STAND	GAA	PHEX	ZNF407	DPM3	ALMS1	SDHB	DOLK	BSND	DLAT	CLCNKB	SCN2A	CLCNKA	COL12A1	KIDINS220
HP_DELAYED_ABILITY_TO_SIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_ABILITY_TO_SIT	UGDH	NARS1	GAA	PGAP1	FOXG1	MECP2	GRIK2	VPS51	DAG1	CELF2	PAFAH1B1	VPS35L	PLP1	SATB1	CLDN11	CASK	POLR3K	SON	TRIM8	POLR2A	PCYT2	DPYSL5	HK1	OPHN1	INPP5E	RAB3GAP2	NEXMIF	CUL3	GALNT2	EXTL3	NGLY1	TUBB3	WASF1	ALMS1	TRIO	AP3B2	WDR26
HP_RED_EYE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RED_EYE	COL7A1	AIRE	IL12A-AS1	PIK3R1	IL12A	ICOS	PLG	SREBF1	NLRP3	TP63	TKT	IKZF1	CD79A	TGFBI	FERMT1	AP1G1	FOXC2	TLR4	LBR	ERCC8	DNASE1L3	ERF	BTNL2	IL10	CD19	BLNK	PAX1	TCF3	VPS33A	GSN	PSMB8	ERCC3	CD79B	TNFRSF1A	HLA-B	MPLKIP	MAPT	GJB2	MAB21L1	PSMB9	USB1	SLC39A4	ERAP1	MMP1	TNFRSF13C	DDB2	RAG2	GJB6	RNF113A	SAMD9	UROS	GTF2E2	WAS	WIPF1	KAT6A	FGFR3	RNF125	STAT4	MBTPS2	ERCC6	UBAC2	ERCC2	ERCC1	RAG1	TFRC	NLRP1	UROD	LRRC8A	BTD	IFNGR1	MEFV	IGHM	DKC1	GNAS	POLH	AP1B1	FGFR2	BTK	IARS2	STX11	C4A	FGF10	NOD2	XPC	COL17A1	SCN9A	HLCS	XPA	IGSF3	PSMB4	TNFRSF13B	KLRC4	CR2	MTTP	SHMT2	GTF2H5	CCR1	GATA1	TARS1	IL23R	STX16	ERCC4	IGLL1	FAS	HLA-DRB1	AEBP1	LRBA	FBN1
HP_LUPUS_ANTICOAGULANT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LUPUS_ANTICOAGULANT	SPP1	TNFAIP3	IRAK1	STAT4	ADA2
HP_AUTOSOMAL_DOMINANT_GERMLINE_DE_NOVO_MUTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AUTOSOMAL_DOMINANT_GERMLINE_DE_NOVO_MUTATION	POLR2A	GNB2	KMT2C	MAPK1	CHD8	SEMA6B
HP_ABNORMAL_CELLULAR_PHENOTYPE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CELLULAR_PHENOTYPE	CIITA	IFNGR1	TNPO3	FASLG	COMT	SLC25A4	WAS	TIMMDC1	REL	SHH	SKIV2L	RAD51	NDUFA13	RIPK1	PDHA1	RTEL1	MT-CYB	PIK3CD	JAK3	LEPR	PARN	IL6ST	PIK3R1	PREPL	GATA3	NDUFV1	RAG1	FANCC	NFE2L2	CTNS	AK2	TIMM8A	CHCHD10	TNFRSF13B	MT-ND3	PNP	KRT5	SUCLG1	ZBTB24	TCF3	TCF4	TP53	LAMTOR2	ERCC3	FANCF	BAP1	NDUFA10	ERCC4	IGKC	SUCLA2	RHAG	MPLKIP	FANCD2	COX5A	TAFAZZIN	NDUFS2	MT-TL2	MT-TN	MYH7	CTSD	TWNK	MT-TH	MT-ATP6	SMARCE1	CDSN	UMPS	NDUFS6	BRIP1	CD3D	FOXRED1	NFKB2	ZCCHC8	SURF1	IL12A	XIAP	CASP10	PLA2G7	MT-CO1	NDUFAF1	GTF2E2	TRAF7	TSC1	ALB	MT-ND4L	ESCO2	MT-ND1	DEF6	POLG	NADK2	PRF1	IRF2BP2	MYH14	FANCG	BLNK	FANCL	NDUFAF3	MS4A1	NDUFS1	ERCC2	KRT9	CASP8	TSFM	SH3KBP1	PANX1	TFRC	CA2	GLRX5	SQSTM1	MVK	LRRC8A	IL12RB1	MT-ND6	IGHM	TXN2	SMARCAL1	STAT3	COX6A2	DLD	ERCC5	NDUFS8	DNMT1	LEP	MAD2L2	EHHADH	SDHD	ZEB2	SLC25A3	CLN5	FANCA	TNFRSF1B	ACADVL	MT-TF	NDUFS4	MIF	SLC3A1	TRNT1	AFG3L2	PET100	IBA57	BRCA1	FANCB	TONSL	TGFB1	KNSTRN	KARS1	MSN	MS4A2	IKZF1	PIK3C2A	PDP1	LCP2	PMM2	NDUFB10	IKBKG	MT-ND5	ELANE	TTC37	TBX1	MRE11	PPM1B	TIMM50	MT-CO2	TARS1	POLG2	DNM1L	PTCD3	MRPL12	HYOU1	TRMT5	GTPBP3	MTOR	MT-TL1	GCLC	SLC2A1	TERT	KRT1	PDGFB	IGLL1	GNPTAB	CPT2	MYD88	FANCI	HADH	LRBA	ESS2	POU2AF1	GATM	SP110	PIK3CA	RELA	TUBB8	EPG5	GPC3	SCARB2	SLC22A5	CARD9	PDHX	ACADM	CEACAM6	NDUFV2	EXTL3	PSAP	COA3	NDUFA4	NDUFAF4	SEC23B	SLC46A1	IL21	FAS	SLC34A1	CLN3	GBA	MAN2B1	SFTPC	DNMT3B	MRTFA	LIG4	LBR	CD55	CD19	NDUFA9	CTLA4	CYBB	NLRC4	TCN2	IL4R	TYK2	ADAMTS3	CD79B	BUB1B	CARS2	NDUFS7	NDUFAF2	ACTN2	PIGM	UNG	POMP	RNF113A	MECP2	CR2	IL2RB	IRF5	KCTD7	SPIB	RFX5	MCOLN1	TNFRSF13C	NFKB1	PEX5	NCKAP1L	HIBCH	HELLS	ICOS	FUS	ETFB	DGCR2	SON	CCND1	RYR1	ERCC6	RRM2B	IGHG2	BLM	AP3B1	KRT14	NFS1	NDUFA12	LRPPRC	RAD51C	RFXAP	FANCE	SLC6A14	FOXP3	ATP6AP1	NKX2-5	SH2D1A	RNU4ATAC	SPINK5	STX11	MFF	IL2RG	SLC39A4	NLRP1	CNBP	GFM1	CTPS1	MYSM1	PTEN	ZFTA	MT-CO3	DCLRE1C	RAI1	SAMD9L	DNA2	ZAP70	BTK	COG6	COA6	CACNA1S	UNC13D	SDHB	RPL3L	ADA	XPA	SPPL2A	CXCR4	PALB2	NFU1	KCNN4	SETX	B2M	NDUFA2	ECHS1	ATP6AP2	PATL2	BRCA2	XRCC2	PRKCD	PMVK	GSTM3	ETFA	MT-ND4	IVNS1ABP	GP1BB	DNAJC30	MCM4	ADA2	COX4I1	SLC19A3	COX15	HLA-DRB1	PIGK	OCRL	TNFRSF11A	MOGS	NDUFB3	NDUFA1	MRM2	SLC25A13	HSD17B10	STING1	NDUFB9	NDUFAF5	XRCC4	ETFDH	RFXANK	TET2	IKBKB	STAT5B	CD79A	PET117	BOLA3	DGCR6	MCPH1	KIF23	CAMKMT	DLAT	VPS33A	CLCN7	RAC2	MMEL1	PSMB8	LIG3	GNE	QRSL1	PLCG2	MT-TW	PGM3	FMR1	PSTPIP1	ACAD8	ALG12	AICDA	CARD10	TTN	GYG1	ZMPSTE24	SDHA	CD3E	NF2	COX16	SLC25A20	DDB2	CD40LG	SLC26A9	RAG2	BACH2	CYP27A1	ARVCF	ATP5F1E	CD247	SMO	TNFSF12	NDUFAF8	NRAS	UFD1	DCTN4	MUC5B	TK2	CARD11	HMGCL	DOLK	TPP1	CLN8	AKT1	TACO1	PIGT	MT-ND2	CD27	CD81	NSMCE3	NEUROG3	HLA-DQA1	MDM4	SLC25A26	DOCK8	HIRA	LMNA	CFTR	ERCC8	TPP2	SFTPA2	SLC5A6	EDNRA	FDXR	IL7R	SMARCB1	NBN	XPC	PSMB4	IL6R	CD70	HADHA	SLC9A3	COL7A1	FXN	SUFU	GTF2H5	HGSNAT	MGAT2	CLN6	GGPS1	TMEM126B	TNFRSF11B	ATXN2	TRMU	COL1A1	GFER	PNPT1	TYMP	SEC24C	RNF168	CDAN1	ACAD9	PEPD	ITCH	CDCA7	MT-TE	SPG7	CARMIL2	NDRG1	VCP	MRPS23	TIMM22	CYBA	UVSSA	FANCM	NEB	GNS	NDUFAF6	ITK	CLCA4	NDUFS3	NHEJ1	FBXL4	TARDBP	NDUFB11	STXBP2	CAVIN1	FAT4	RASGRP1	VPS45	HFE	MRPS25	IRAK4	MAGT1	SEMA4D	HMOX1	KRAS	MT-TS2	ASAH1	SCO1	CD40	MTHFD1	SLX4	MRPS14	PSMB9	BCL10	OTULIN	SLC25A10	PNPLA2	GATC	DGUOK	CD28	STX1A	CISD2	LIPT1	DSP	IL2RA	MMP1	ATM	MTFMT	WEE2	WIPF1	TOM1	RMRP	TMEM70	SYK	JMJD1C	TBK1	CEACAM3	KRT74	PLVAP	UBE2T	GPR35	GJA1	IL21R	PDHB	CCBE1	SLC39A8	LAT	MST1	NDUFA11	C9orf72	KLHDC8B	COX20	TNFSF15	SLC35C1	TMEM185A	IPO8	TRIP13	GPC4	NDUFA8	HLA-DQB1	FCGR3A	CSNK2A1	NDUFA6	DNAJC5	RFWD3	SLC11A1	IFIH1	EARS2	ZP2	DGCR8	ISCU	RREB1	SLC7A7	COA8	MGME1	NDUFC2	ADAM17	SERPINA1	FLNA	RBM8A	RAB27A	MT-TQ	NUBPL	RAD50	MIEF2
HP_PSYCHOMOTOR_RETARDATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSYCHOMOTOR_RETARDATION	HSD17B10	ELN	ALG3	MVK	ALDH18A1	NALCN	ABAT	AUH	PDHA1	GK	PIK3CA	ALG8	VLDLR	QDPR	TWNK	ARSL	COX7B	SLC19A3	PC	DLAT	DOCK6	GLB1	VPS33A	PTS	RDH11	VRK1	ERCC3	CAV1	MPLKIP	LAMB1	ACY1	ALG1	RBPJ	SLC25A15	PCCB	BMP4	MTRFR	HSD3B2	ATCAY	TINF2	RNF113A	NEU1	GTF2E2	PPARG	ALG11	GCH1	RNF125	LRPPRC	TMEM70	MCCC2	HMGCL	HESX1	PEX1	SERAC1	FANCE	POMK	GBA	CAVIN1	CA2	PSAT1	AKT3	SIL1	FOS	BTD	FGFR1	AASS	PCCA	KAT6B	AGPAT2	MRPS22	SLC33A1	MCCC1	RPIA	SYT14	FBLN5	ALG6	PMM2	CD96	CFAP43	IARS1	NFU1	GTF2H5	BSCL2	ALG12	TARS1	PIGV	ALDH5A1	MRPL12	EMC1	EPG5	MEIS2	DDX11	LAMB2	KYNU	ERCC2	GLYCTK	AIFM1	ATPAF2	CWC27	TBC1D24
HP_UVEAL_ECTROPION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UVEAL_ECTROPION	CPAMD8	OVOL2	COL8A2	VSX1	ZEB1	GRHL2
HP_INTERICTAL_EEG_ABNORMALITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERICTAL_EEG_ABNORMALITY	UBE3A	DCPS	MYO9A	CNPY3	AGRN	PIGA	NCDN	SRPX2	KANSL1	DPM2	CCDC88A	DOCK7	KCNQ2	SCN2A	ZNHIT3	SCN3A	GABRA1	CLCN2	TUBB2A	NTRK2	PIGW	SZT2	AP2M1	NHLRC1	SLC25A1	CHRNA2	PHGDH	SCN9A	GABRG2	PRRT2	CILK1	RPL10	KCNT1	SIK1	ST3GAL3	STRADA	CSTB	YWHAG	PDE2A	C12orf4	CNTNAP2	GLYCTK	GNAO1	CC2D1A	ADGRV1	ARV1	TIMM50	TBCK	SMC1A	AKT3	GRIN2A	JRK	FMN2	SLC1A4	AIMP2	ATP1A2	CACNA1A	SCN1A	KCNB1	SLC2A1	SPTBN1	SYNJ1	HNMT	GABRB3	UBA5	KCNA1	ERMARD	GABRD	CUX2	TUSC3	LMAN2L	KCNJ11	GABRB2	GRIN2B	NSUN2	HMGCL	GRIN2D	IQSEC2	MAP1B	NEXMIF	SCARB2	MFF	ACTL6B	MYD88	PIGP	SCN8A	CHD2	GFM2	PLAA	CLIP1	PIK3CA	KCNMA1	EFHC1	ALG13	DOLK	SLC1A2	SLC6A1	EEF1A2	WASHC4	KCNA2	NPRL2	PGAP1	ARFGEF2	CACNB4	AARS1	SYT1	KCNQ3	CARS2	SLC5A7	CDK19	PGAP2	SPATA5	HIBCH	NAA20	CABP4	ROGDI	TECR	FBXO31	PRPS1	HCN1	COL13A1	PPP3CA	PI4KA	LRPPRC	DNM1	GRM7	GUF1	ARX	ADARB1	WDR45	PNKP	DMXL2	CDKL5	PRSS12	CYFIP2	PTPN23	SPTAN1	CASK	CLTCL1	SCN1B	AASS	TUBGCP2	SLC13A5	RNF13	ATAD1	KIF1A	IARS2	GABRA5	PLCB1	PTS	METTL23	PDHA1	SETD1B	FGF12	TFE3	TBC1D24	EDC3	CNKSR2	MED23	PARS2	MECP2	ADGRG1	DAG1	NECAP1	PSAT1	CLTC	SATB1	GLUD1	DEPDC5	NF1	ALG14	CLCN4	PHACTR1	COX4I1	PDSS2	GNB1	NBEA	AP3B2	CACNA1E	NEUROD2	TRIM8	MED25	PIGC	KCTD7	LGI1	ZC3H14	PIGG	PCDH19	KCNT2	ATP6V1A	NSF	PNPO	TRAPPC9	FGF13	SARS1	IER3IP1	NUS1	GABRA2	PIGL	CUL3	SNAP25	DCX	ATP1A3	DPAGT1	GABRB1	PIGT	IQSEC1	SLC35A2	SYT2	NACC1	UPB1	CHAT	PIGQ	EPM2A	FRRS1L	CACNA1H	PIGV	SYNGAP1	ST3GAL5	PIGS	MBOAT7	SLC25A46	SETBP1	MGAT2	CRBN	COQ2	CACNA1B	TTC5	SLC25A22	ABCC8	LINS1	NPRL3	LONP1	ALDH7A1	ALDH4A1	UBE4A	EZR	ASNS	CPA6	WWOX	TGFB1	RSRC1	TBC1D2B	ALG3	TNIK	GAD1	MED17	DPYD	HCFC1	CELF2	APC2	VAMP1	EXOC8	GNB5	CLN5	ARHGEF9	PGAP3	UGDH	CRH	UFSP2	CLN8	PAFAH1B1	NDST1	SLC25A10	STXBP1	TRAK1	SLC18A3	SLC12A2	SLC9A6	CHRNA4	P4HTM	RELN	SLC45A1	MPDU1	B3GALNT2	PLPBP	MED13L	KDM5B	GRIK2	PRICKLE1	PIGO	TRAPPC12	CRADD	SLC39A8	SAMD12	ALKBH8	ALG2	AIMP1	NDUFAF8	CPLX1	ALG11	MAN1B1	CHRNB2	STX1B	PIGY	DHDDS	MAPK10	MDH1	NEMF	ATXN10	AP1G1	STARD7	DALRD3	GABBR2
HP_ANTI_THYROID_PEROXIDASE_ANTIBODY_POSITIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTI_THYROID_PEROXIDASE_ANTIBODY_POSITIVITY	RASGRP1	ADA	FOXP3	ITCH	NFKB2
HP_DORSOCERVICAL_FAT_PAD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DORSOCERVICAL_FAT_PAD	PRKAR1A	PRKACA	PDE11A	PDE8B	TRMT10A	ARMC5	CDH23	ALMS1	PPP1R15B	USP8	GNAS
HP_PILL_ROLLING_TREMOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PILL_ROLLING_TREMOR	GABBR2	MECP2	CDKL5	SMC1A	NTNG1
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	DSP	MUC5B	CSF2RA	SFTPB	SLC34A2	SFTPA1	TERT	EIF2AK4	BMPR2	ATP11A	TERC	COL3A1	CSF2RB	HLA-DPB1	SFTPC	FAM13A	DPP9	ASAH1	ABCA3	HLA-DRB1	NKX2-1	PARN	RTEL1	STN1	SFTPA2
HP_STARING_GAZE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STARING_GAZE	SLC18A3	SLC2A3	VAMP1	NEXMIF	SLC25A1	SNAP25	SYT2	ATXN1	MYO9A	PNKD	AGRN	SLC5A7	COL13A1	PRRT2	NGLY1	HTT	CHAT	SYNJ1
HP_STOOPED_POSTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STOOPED_POSTURE	TK2	MECP2	SLC18A2	POLG	COL12A1	ATP13A2
HP_ABNORMAL_VISUAL_FIXATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VISUAL_FIXATION	ASAH1	CLP1	ITPR1	SLC39A8	VPS41	PIGB	RPGR	RANBP2	PTPN23	ASPA	GNAT2	PET100	PDE6H	GBA	CNGA3	DPM1	PDE6C	CNGB3	ATF6	CLCN3	RNF13	VPS13D	VPS4A
HP_VISUAL_FIXATION_INSTABILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VISUAL_FIXATION_INSTABILITY	ASAH1	CLP1	ITPR1	SLC39A8	PET100	CLCN3	RNF13	VPS4A	ASPA
HP_ASTHENIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASTHENIA	MAN2B1	PIGA	PLEKHM1	MTHFD1	DGUOK	NSDHL
HP_DIFFUSE_ALVEOLAR_HEMORRHAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFUSE_ALVEOLAR_HEMORRHAGE	HMOX1	PML	IRF2BP2	RARA	NABP1	NUMA1	STAT5B	BCOR	EIF2AK4	NPM1	PRKAR1A	TBL1XR1	FIP1L1	COL3A1	ZBTB16	STAT3	NLRC4
HP_ABNORMAL_LARYNX_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LARYNX_MORPHOLOGY	PKDCC	RTL1	SMAD4	COMT	KAT6A	RPL10	FGFR2	XPNPEP2	PLG	SLC26A2	GIPC1	HYLS1	DDRGK1	GLI3	KANSL1	SPECC1L	NFIX	VPS13B	ASAH1	TBX1	FERMT1	C2CD3	APC	MT-CYB	AFF4	EIF4A3	HSPG2	ARSL	CTSK	LAMA3	KRT5	PSAP	SYT1	HDAC4	DYNC2I2	AHDC1	FRAS1	LRP12	AMER1	UBE3B	PUF60	MGP	INTU	PRRX1	MYMK	TBX3	SCARF2	PRMT7	SNIP1	MEG3	PTH1R	SEMA3E	MEIS2	WRN	ARVCF	TCTN3	EFL1	CREBBP	KRT14	HOXD13	KRAS	SERPING1	FGFR3	UFD1	LBR	IDH1	KIF7	LTBP3	NEK1	HS3ST6	ZNF699	PCNT	ADARB1	JMJD1C	MID1	FLNB	SIAH1	RALGAPA1	GMNN	HIRA	SOX9	POR	FREM2	EDN1	FOXE1	KAT6B	EP300	SATB2	MATR3	LAMC2	DLK1	ATP6V1E1	GALC	FGF10	LMNA	TONSL	SPTBN1	ASXL3	LAMB3	KIF22	NOTCH2NLC	NIN	HAAO	FLNA	DYNC2I1	POLR3A	SETBP1	SOX4	MAP3K7	BRF1	SF3B4	CHD7	RAF1	IFT80	COL12A1	ORC6	DYNC2H1	SEC24C	RREB1	GRIP1	EXTL3	GP1BB	KCNMA1	LTBP4	CAPN15	LRP4	WDR35
HP_ABNORMAL_LARYNX_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LARYNX_PHYSIOLOGY	CFAP410	PFN1	PPARGC1A	FUS	CHCHD10	PRPH	BTD	CASR	VCP	TAF15	TREM2	ASAH1	C9orf72	SCN4A	PON1	SOD1	GABRG2	ATXN2	OPTN	NEFH	TBK1	ANXA11	GRIN2A	CCNF	UBE3B	TSPYL1	GLT8D1	EPHA4	DCTN1	PON3	BRF1	ANG	CHMP2B	GLE1	FIG4	DAO	UNC13A	SQSTM1	VAPB	HNRNPA1	TAF1	NEK1	PON2	SRPX2	ERBB4	PLP1	TARDBP	UBQLN2	MATR3
HP_ABNORMAL_BRONCHUS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BRONCHUS_MORPHOLOGY	HYDIN	ELN	ZMYND10	DRC1	ALDH18A1	ICOS	FLNB	SOX9	CCDC40	FCGR2A	CD8A	RIPK1	POLA1	PIK3CD	CD19	TET2	CFTR	IL6ST	PIK3R1	CD79A	ODAD2	ARSL	DNAAF2	ZNF341	TTC12	BTNL2	KRT5	TNFRSF13B	BLNK	TCF3	TAP1	GNPTAB	ABCA3	CFAP298	IGKC	PGM3	TTC26	SCNN1B	STX3	IRF8	ODAD4	CARD10	LRRC56	SFTPA1	GAS8	MPEG1	TNFRSF13C	CXCR4	RSPH1	DNAAF3	NFKB2	BACH2	DNAI1	SCUBE3	OFD1	TAPBP	UNC119	TNFSF12	IL17RA	SLC26A2	ERF	FOXJ1	SPEF2	ZNF699	RTEL1	DNAH1	SFTPA2	DNAAF1	DSP	EHMT1	LRRC8A	GMNN	IGHM	RSPH3	MCIDAS	NFKB1	MYRF	TERC	TPP2	POR	RSPH9	CFAP300	RAC1	HRAS	SPAG1	SCNN1G	DNAAF6	PARN	CR2	DNAH5	MYH11	ODAD3	SLC34A2	STAT1	ATP11A	GAS2L2	DNAJB13	IGLL1	RPGR	FGFR1	LTBP4	LRBA	CD79B	CARMIL2	CCNO	STN1	TGFB1	TP73	DDRGK1	DNAAF4	SLC41A1	CCDC39	STK36	DNAAF11	ODAD1	DNAL1	MAGT1	RASGRP1	CTLA4	SCNN1A	MGP	DNAI2	TERT	MS4A1	DNAAF5	RSPH4A	NCKAP1L	EGFR	DNAH9	CCDC65	RAC2	IGHG2	KRT14	NEK10	CD81	ATM	SYK	IL2RG	BLM	NBN	SFTPC	FAM13A	IL21R	CCDC103	LAT	FCHO1	FBLN5	SMARCA2	IRF9	ARHGEF1	SLC29A3	MUC5B	B2M	WDR1	FGFR2	DPP9	ORC6	PRKCD	DNAH11	IDS	DNMT3B	TAP2	ORC4	HLA-DRB1	NME8	RIN2	CFAP221
HP_ABNORMAL_BRONCHUS_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BRONCHUS_PHYSIOLOGY	IFNGR1	MPLKIP	TSPYL1	IL13	CCL11	SDHD	PTGER2	GTF2H5	SCGB3A2	TARS1	ATRX	ALOX5	TBX21	HLA-G	DAXX	HNMT	RNF113A	TNF	GTF2E2	ERCC2	ADRB2	PLA2G7	ACAN	MUC7	ERCC3
HP_BRONCHOSPASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRONCHOSPASM	MPLKIP	GTF2E2	TSPYL1	ACAN	SDHD	ERCC2	GTF2H5	ERCC3	DAXX	TARS1	ATRX	RNF113A
HP_ABNORMAL_CRY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CRY	SYT2	TPM2	MYO9A	AGRN	CHRNE	LAMB2	ABAT	GFPT1	COQ9	CHAT	FKTN	SNRPN	SPECC1L	ATP5F1A	ASAH1	FIG4	VAMP1	COLQ	RYR1	ASPA	OPA1	MYH7	PNPO	TPM3	MECP2	NIPBL	TTC26	EXOSC9	FUZ	TSPYL1	CTNND2	SLC25A1	SIM1	TSHR	SLC5A7	GGPS1	IGHMBP2	ACTA1	SELENON	SEMA5A	RAPSN	PPP1R21	VPS13B	SLC18A3	SNAP25	COL13A1	LAMA3	CHRNA1	TRIP4	LAMA2	MAGEL2	CRYAB	ZNF699
HP_HIGH_PITCHED_CRY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_PITCHED_CRY	FIG4	ABAT	PNPO	ATP5F1A	MECP2
HP_INCREASED_CIRCULATING_LACTATE_DEHYDROGENASE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_LACTATE_DEHYDROGENASE_CONCENTRATION	AKR1D1	GAA	VPS13A	SLC25A13	MVK	MYC	CFH	SLC19A1	PLEC	RHAG	RHD	PITRM1	SLC4A1	RHCE	TCIRG1	RPS14	KY	LYST	LIPA	LPIN1	JAK2	HLA-DRB1	CHEK2	CPT2	MT-CO1	RB1	TET2	PIEZO1	CD46	PNPLA2	KCNN4	ZNFX1	USB1	CALR	HELLPAR	SPP1	HBB	FLI1	OCRL	TP53	CFI	HMOX1	ACAD9	SLC7A7	IRAK1	MT-CO3	MPL	PIGA	PLA2G6	STAT4
HP_PHARYNGITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHARYNGITIS	CXCR4	PTPN22	ALG12	P4HA2	HLA-DRB1	GFI1	ELANE	SRP54	HLA-DPB1	NFKB2	TCIRG1	XIAP	SH2D1A	SLC29A3	HLA-B	TNFRSF1A
HP_TESTICULAR_ADRENAL_REST_TUMOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TESTICULAR_ADRENAL_REST_TUMOR	MRAP	STAR	MC2R	PRKAR1A	TXNRD2	NNT	CYP11B1
HP_PYODERMA_GANGRENOSUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PYODERMA_GANGRENOSUM	GFI1	ELANE	WDR1	SRP54	NFKB1	MEFV	TCIRG1	PSTPIP1
HP_ABNORMAL_CSF_METABOLITE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CSF_METABOLITE_CONCENTRATION	PNPO	MT-TL1	NDUFB3	NDUFA1	MT-ND6	NAXE	SLC25A4	HSD17B10	NDUFB9	GFM2	NDUFAF6	NDUFAF5	COX14	NDUFV2	SLC2A1	NDUFA13	PDHA1	NDUFS3	ADAR	NDUFA4	NDUFAF4	MT-ND3	COX6B1	NDUFB11	NDUFV1	PET117	TICAM1	PDHX	MRPS34	PNPT1	SCO2	FOXRED1	RARS2	SURF1	SDHA	COA8	NGLY1	SUCLG1	NDUFA9	MT-TS2	PET100	NDUFS4	MT-TW	NDUFA10	GCH1	NDUFS7	NDUFAF2	NDUFS2	MT-TH	MTRFR	NDUFS6	LIPT1	MT-TK	DLAT	MTFMT	TRAF3	MT-CO1	NDUFAF1	HTRA2	NDUFAF8	MT-ND1	HPDL	MT-ND5	TXN2	NDUFA12	LRPPRC	SLC25A19	NDUFAF3	RNASEH2C	MT-TV	NDUFS1	MT-ATP6	IFIH1	TACO1	MT-TN	MT-ND2	COX8A	GFM1	RNASEH2B	TH	NDUFS8	AASS	UNC93B1	GLUL	AIFM1	DARS2	MT-TF	SLC39A8	RPIA	MT-ND4	NDUFA11	COX20	SPTBN1	KARS1	DDC	MDH2	NDUFB10	MECP2	NDUFA8	MT-CO3	RMND1	NDUFA6	TRAPPC12	MT-CO2	NDUFB8	TREX1	TMEM126B	ASPA	NDUFA2	TSPOAP1	ECHS1	ALDH5A1	COQ8A	COX10	TIMMDC1	LONP1	TRMT10C	SLC13A3	GLYCTK	MPV17	RNASEH2A	ALDH4A1	TBK1	COX4I1	SLC19A3	TLR3	COX15	MT-TQ	NUBPL	NARS2	SAMHD1
HP_ABNORMAL_CSF_PROTEIN_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CSF_PROTEIN_LEVEL	PSAP	SLC12A2	GALC	MT-ND6	HLA-DQB1	NOTCH2NLC	POLG	PHYH	TXN2	ARSA	PRX	UNC93B1	MT-TF	TICAM1	SUMF1	RANBP2	BTNL2	NGLY1	MT-TS2	PRNP	OCLN	MPZ	LIG3	MT-TW	MT-CO3	CACNA1A	TTR	LMNB1	NDUFS4	MT-CO2	MT-TH	GFAP	TRAF3	SCN1A	MT-TL1	MT-CO1	TYMP	RRM2B	PEX7	MICU1	ABHD5	PRRT2	CD59	MT-ND1	MT-ND4	ALDH4A1	FTL	TBK1	MT-ND5	HLA-DRB1	PRF1	TLR3	SLC12A6	MT-TQ	ATP1A2	EGR2	PMP22	BCAT2
HP_ABNORMAL_CELL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CELL_MORPHOLOGY	RTEL1	PANX1	ACTN2	MDM4	POLG	GYG1	PNPLA2	ZFTA	DSP	ATXN2	ZP2	ZCCHC8	PATL2	PARN	RYR1	TYMP	RRM2B	WEE2	TERT	CACNA1S	DOLK	RPL3L	LIG3	RELA	TUBB8
HP_ABNORMAL_CIRCULATING_BETA_GLOBULIN_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_BETA_GLOBULIN_LEVEL	RFX5	RFXAP	CIITA	RFXANK	TF	ALB
HP_HYPERPIGMENTED_PAPULE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPIGMENTED_PAPULE	IDH1	PSENEN	POGLUT1	KIT	POFUT1	KRT5
HP_ERYTHEMATOUS_PLAQUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERYTHEMATOUS_PLAQUE	COL2A1	HAVCR2	MEFV	SDHD	MPDU1	RASA1	EBP	COL7A1	TRPM4	LDHA	CARD14
HP_ATRIAL_STANDSTILL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATRIAL_STANDSTILL	GJA5	SCN5A	RYR2	NPPA	TRDN	CASQ2
HP_ABNORMAL_CIRCULATING_THYROGLOBULIN_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_THYROGLOBULIN_LEVEL	SLC35A2	DUOX2	DUOXA2	IYD	TRHR	TG	TPO	TSHR	TSHB	SLC5A5
HP_ABNORMALITY_OF_BLADDER_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_BLADDER_MORPHOLOGY	ELN	MBTPS2	EFEMP2	MLXIPL	SLC35A2	GTF2IRD2	ALDH18A1	MYL9	ACTG2	PLOD1	MYRF	UPB1	POR	VPS37D	COL1A2	LAMC2	MYH11	BCL7B	TMEM270	GTF2I	NCF1	FBLN5	RFC2	ATP7A	FOXF1	TP63	LAMA3	LIMK1	ISL1	LAMB3	EIF4H	SMARCA2	MED12	AVPR2	LMOD1	COL5A1	ITGB4	WNT4	NKX2-1	COL1A1	PAH	FKBP6	PIGN	PLEC	STK11	STX1A	FREM2	COL3A1	SALL4	SMAD3	BAZ1B	MYLK	RAC2	MKS1	ALG9	METTL27	TBL2	CLIP2	CDH11	AQP2	BUD23	MKKS	GTF2IRD1	MYOCD	LTBP1	COL5A2	LTBP4	FKBP14	DNAJC30	GRIP1	KRAS	ITGA6
HP_OVERWEIGHT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVERWEIGHT	PROP1	BLK	KLF11	CHD8	LHX4	SATB1	GCK	LHX3	AP4E1	NEUROD1	THOC2	APPL1	AP4M1	PDX1	TRHR	ABCC8	HESX1	AP4B1	FOXP1	IGSF1	HNF1A	INS	POU1F1	CFAP418	TAOK1	USP7	AP4S1	KCNJ11	TMEM218	CTSK	SPTBN1	SPG11	ACADVL	HNF4A	TRIP4	PAX4	UNC45B	CEL	ABCB4
HP_MORNING_GLORY_ANOMALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MORNING_GLORY_ANOMALY	PAX6	HMX1	DNM1L	PAX2	OPA1	TMEM237
HP_HYPOPLASTIC_HIPPOCAMPUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASTIC_HIPPOCAMPUS	SCN1A	GRIN1	SLC35A2	NDE1	OSTM1	CARS2	VPS13A	VPS51	CLCN3	CAMTA1
HP_ABNORMAL_B_CELL_SUBSET_DISTRIBUTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_B_CELL_SUBSET_DISTRIBUTION	CTPS1	REL	TOM1	IKBKB	IRF2BP2	RASGRP1	ICOS	CD19	HYOU1	PIK3CD	LRBA	PRKCD	TET2	BACH2	LCP2	IL6R	SP110	SOCS1	IL21
HP_ABNORMAL_T_CELL_SUBSET_DISTRIBUTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_T_CELL_SUBSET_DISTRIBUTION	FASLG	IL2RG	NSMCE3	CIITA	LCK	WAS	FAS	CTPS1	MYC	CD3E	ITK	CD8A	DCLRE1C	RAG2	LEPR	LEP	PRKCD	ZAP70	CD3G	LAT	PIK3CD	RASGRP1	SMARCAL1	PNP	KNSTRN	MAGT1	IL7R	LCP2	PGM3	FOXN1	BCL10	CASP10	OTULIN	RFX5	WDR1	ATP6AP2	RFXANK	EPG5	HLA-DPB1	NCKAP1L	CD3D	IL2RA	BLM	AP3B1	CD247	WIPF1	UNC119	IVNS1ABP	EXTL3	TOM1	DEF6	IKBKB	ATM	RFXAP	FOXP3	CD4	CASP8	SYK	RAG1
HP_ABNORMAL_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION	MPLKIP	KCNN4	GTF2H5	TARS1	CFH	HELLPAR	ANK1	EPB42	HBB	SLC4A1	SPTA1	RNF113A	CFI	RHAG	GTF2E2	ERCC2	SPTB	PIEZO1	ERCC3	CD46
HP_DECREASED_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION	RHAG	HBB	CD46	CFH	CFI	HELLPAR
HP_INCREASED_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_MEAN_CORPUSCULAR_HEMOGLOBIN_CONCENTRATION	MPLKIP	GTF2E2	KCNN4	ERCC2	GTF2H5	TARS1	ANK1	EPB42	SLC4A1	SPTB	PIEZO1	ERCC3	SPTA1	RNF113A
HP_ECCENTRIC_VISUAL_FIXATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECCENTRIC_VISUAL_FIXATION	GNAT2	PDE6H	CNGA3	PDE6C	RPGR	CNGB3	ATF6
HP_OPTIC_NERVE_MISROUTING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPTIC_NERVE_MISROUTING	TYRP1	OCA2	MC1R	SLC38A8	SLC45A2
HP_ABNORMAL_MORPHOLOGY_OF_THE_CHOROIDAL_VASCULATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_THE_CHOROIDAL_VASCULATURE	GNAQ	AGXT	CFI	MAPKAPK3	C1QTNF5	XYLT2	TIMP3	CFHR3	FBLN5	PRPH2	HMCN1	HLA-A	CFH	CCM2	APOE	FBLN1	ABCC6	PDCD10	FBN2	KRIT1	CFHR1	XYLT1	EFEMP1	ENPP1
HP_MACULAR_HEMORRHAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_HEMORRHAGE	CFHR3	CFHR1	CFI	EFEMP1	HMCN1	CFH	APOE
HP_ABNORMAL_LEFT_ATRIUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LEFT_ATRIUM_MORPHOLOGY	FLNC	KIF20A	BANF1	TNNI3	MYL3	MYPN	GYS1	SCN5A	MYL2	FHOD3	TLL1	RARB	TNNT2	SCN1B	STRA6
HP_ABNORMAL_RIGHT_ATRIUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RIGHT_ATRIUM_MORPHOLOGY	TBX20	FLNC	KIF20A	GATA4	BANF1	TNNI3	NOTCH1	MYPN	MYL2	TLL1	TNNT2	CITED2	MCM10	MYH6	RPL3L	ACTC1	GATA6	NKX2-5
HP_POSTERIOR_BLEPHARITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTERIOR_BLEPHARITIS	GJB6	SREBF1	MBTPS2	UROS	GJB2	UROD	GATA1
HP_FOCAL_EMOTIONAL_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_EMOTIONAL_SEIZURE	GRIN1	PPP3CA	CSNK2B	SETD1B	DEAF1	PACS1	CACNA1I	CAMK2B	MED12L	EPB41L1	GRIN2B	BRSK2	SET	PRICKLE2	EEF1A2	ERBB4	KCNQ5	MBD5	SYNGAP1	MYT1L	ZMYND11	CIC	TAOK1	CDH15	CACNG2	TRPM3	KIF1A	DLL1	ASH1L	NBEA	CUX1	KIRREL3	NGLY1	DYNC1H1	CLTC	CAMK2A	HIVEP2	DOCK8	RAB11A	TCF4	GLI3	PHGDH	CHAMP1	KDM5B
HP_ABSCESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSCESS	CYBA	PALB2	DLX3	TGFB1	ENG	CYBC1	ENPP1	NCF1	TTC7A	RIPK1	SMAD4	MNX1	DDR2	PSEN1	BRCA2	RABL3	PSENEN	IRAK4	MYD88	IL10RA	ELANE	TP53	CYBB	LCP2	IL6R	IL1RN	FGF23	IGKC	PGM3	PALLD	BTK	GJB2	IL10RB	VANGL1	CDKN2A	WDR1	MPEG1	PKHD1	MEFV	IKZF3	BRCA1	RAC2	ACVRL1	NCF2	DMP1	KRAS	PHEX	IGHG2	BLM	IL17RA	IKBKB	GJB6	UBE2A	CTSC	NTRK1	NCF4	ITGB2	CARMIL2	PSTPIP1	ABCB4
HP_ABNORMAL_URETER_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URETER_MORPHOLOGY	EPG5	SMC3	GPC3	PBX1	FANCM	B9D2	APC2	TRIM8	CHRM3	NEUROD2	RAD51	GATA6	GLI3	TMEM216	MYH11	SLC6A17	FANCC	SCN2A	BRIP1	ACTB	AQP2	FOXF1	PIEZO2	RIPK4	LAMA3	TCTN2	NODAL	LONP1	SOS1	ACTG1	ZMPSTE24	MED12	PSMD12	FANCF	LMOD1	ERCC4	CPT2	SLX4	FANCD2	PIGN	FIBP	B9D1	CSPP1	AVPR2	CDKL5	TMEM237	AXIN1	COL18A1	RAB23	TCTN3	EVC2	HNF1B	LHX1	LMNA	KIF14	HS2ST1	GLI1	MYLK	NADSYN1	SIK1	ACTG2	FLNA	MKKS	BCOR	WFS1	FANCL	TXNDC15	RAD51C	FANCE	TCTN1	MBTPS2	ERCC8	HPSE2	DDB1	NSD1	GRM7	GNAO1	ITGA6	PIGT	PNKP	DMXL2	PLD1	VANGL1	CEP290	CASK	PALB2	SCN1B	TBX18	SETD2	UBE2T	PIGQ	MAD2L2	NDUFAF3	LAMC2	FANCA	EDNRA	SOX17	SPINT2	FANCG	TMEM107	NAA10	TP63	DYNC2LI1	LAMB3	FAM20C	TMEM67	FUZ	RPGRIP1L	ARX	GPC4	ITGB4	MKS1	KCNA1	B3GLCT	PLEC	SETBP1	CC2D2A	EVC	RFWD3	ERCC6	RPGRIP1	PEX6	SOS2	ARID1B	KCTD1	BRCA2	XRCC2	PORCN	ALG9	PIGP	SLC25A22	NPHP3	FANCB	BRCA1	CEP55	FANCI	RNU4ATAC	TMEM231
HP_ABNORMAL_URETER_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URETER_PHYSIOLOGY	RERE	KAT5	MLXIPL	COMT	HDAC8	BNC2	KANSL1	CDKN1C	ASPM	MNX1	GATA3	GTF2I	CTLA4	NCF1	KCNQ1OT1	IGF2	LAMA3	SDHA	LIMK1	ISL1	YY1	EIF4H	LRIG2	HSPA9	MED12	UNC45A	ZMIZ1	TBX1	GRHPR	PUF60	CEP63	CEP135	KMT2D	PIGN	FBLN5	PRMT7	CHRNA3	SLC26A1	FANCI	EBF3	SALL4	MYCN	KNL1	SEMA3E	STIL	ARVCF	CDK6	ACTG2	CREBBP	CDH11	FGFR3	UFD1	SH2B1	CCBE1	LTBP1	ARNT2	DVL3	NSD1	SMC3	MID1	CHD4	MBTPS2	SLC35A2	VANGL1	RALGAPA1	HIRA	METTL5	SETD2	HNRNPU	LAMC2	SHANK3	ZEB2	BCL7B	TP63	KMT2C	TNXB	MYOD1	FGF10	HLA-DPA1	KDM6A	COPB2	LAMB3	EYA1	DDX6	HAAO	CDC45	NIPBL	FLNA	NKX2-1	EXT1	POR	ATRX	TRAPPC14	WDR62	CHD7	DACT1	JAG1	KIF14	GREB1L	HNF1B	SEC24C	METTL27	TBL2	DHCR7	BRF1	PAX2	STAMBP	EHMT1	SMC1A	PTPN22	ATP7A	PBX1	APC2	EFEMP2	CCNQ	FGFR2	RAD21	CHRM3	TRRAP	ELN	ASXL1	TMEM270	CENPJ	AFF4	BPTF	CIT	RECQL4	RFC2	NCAPG2	SDHB	ROBO2	NODAL	DSTYK	MCPH1	PAX6	FKBP6	BRD4	BICC1	STX1A	COL18A1	BAZ1B	OTUD5	HNRNPK	MAP3K7	BUD23	MFSD2A	UBE2A	DNAJC30	NRIP1	TAF13	JMJD1C	GTF2IRD2	PYCR2	CEP152	SIX1	PIGL	SPOP	TBX18	VPS37D	HPSE2	EP300	RARB	FANCF	SASS6	SALL1	HOXA13	PRTN3	STRA6	SOX17	PIGT	KCNQ1	FUZ	HLA-DPB1	POLR3A	PPP3CA	ZMYM2	NFIA	PHC1	PIGA	PIGO	SETBP1	PSMD12	CDK5RAP2	RPL11	SDHAF1	PIGQ	RREB1	SDHD	CLIP2	ANKLE2	TRPS1	GP1BB	NCAPD3	GTF2IRD1	SIX5
HP_FETAL_NECK_ANOMALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FETAL_NECK_ANOMALY	RASA2	PEX1	MLXIPL	TREM2	DHCR7	HDAC8	RAD21	RRAS	PEX11B	GRN	NIPBL	ELN	RIT1	FGFR3	ENPP1	TMEM270	GTF2I	TBC1D24	PEX3	NCF1	RAF1	RFC2	CHMP2B	FOXF1	VCP	KRAS	PEX10	LIMK1	PEX13	EIF4H	HNRNPK	ATN1	OFD1	PEX5	VAC14	PEX26	C9orf72	FKBP6	SPRED2	ODC1	BRD4	STX1A	MYLPF	LZTR1	BAZ1B	CSGALNACT1	MAPT	RRAS2	BUD23	SLC26A2	DNAJC30	SMC3	ADARB1	GTF2IRD2	PEX14	ABCC6	PSEN1	TMEM106B	EFNB1	VPS37D	MRAS	BUB1B	BCL7B	PEX2	HRAS	PEX6	PEX19	BUB1	ALG9	SLC35A2	SOS1	BMPER	GPC6	EBP	TRIP13	PEX12	PSAT1	PIGN	NRAS	SOS2	SQSTM1	GATA1	METTL27	BUB3	TBL2	CLIP2	CBL	TRIP11	GTF2IRD1	CEP57	PEX16	SMC1A	RNU4ATAC	FIG4	ATP6V1B2	TRAF7	PTPN11
HP_ABNORMAL_FETAL_SKIN_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FETAL_SKIN_MORPHOLOGY	IL2RG	LIG4	SLC27A4	RAG1	GBA	IL7R	RMRP	RAG2	CHD7	HLCS	ADA	TGM1	DCLRE1C
HP_LAGOPTHALMOS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LAGOPTHALMOS	ZMPSTE24	PRR12	LMNA	RIPK4	NGLY1	POLR3A
HP_SINGLE_FIBER_EMG_ABNORMALITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SINGLE_FIBER_EMG_ABNORMALITY	GMPPB	DPAGT1	ALG14	ALG2	GFPT1
HP_ABNORMAL_FEMALE_REPRODUCTIVE_SYSTEM_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FEMALE_REPRODUCTIVE_SYSTEM_PHYSIOLOGY	FASLG	POF1B	AR	LHX4	CDKN2B	NDN	STUB1	BMP15	LEPR	PARK7	F2	SNRPN	PDE8B	FOXL2	MCM9	DCAF17	MYH9	DHH	CDKN1A	AIP	BAP1	NBEAL2	MSTO1	GALK1	SMARCE1	ZMPSTE24	NDNF	NR5A1	CHD7	CASP10	USP8	PHKB	CCN2	TRAF7	NABP1	WT1	PROK2	FGFR1	GALT	SERPINE1	LMNA	THOC6	LMAN1	DUSP6	PHKG2	F8	SMC3	PLAG1	LHB	CAVIN1	GNRHR	CYP17A1	PTPN11	HSF2BP	BNC1	CDH23	LEP	RTN2	HS6ST1	PRKACG	CDON	ALMS1	NPHP4	MKRN3	OTX2	PMM2	HPS5	FGF17	PRKACA	NPHP1	DNAJC6	NSMF	MAGEL2	PSMC3IP	PODXL	POR	ARMC5	FLRT3	DNM1L	CAV1	TAC3	PRLR	SEMA3E	CLPP	FLI1	ESR1	TERT	FGF8	GP9	FGB	NPAP1	PDGFB	SOX10	LRRK2	GP1BA	SMC1A	OCA2	PIK3CA	EIF2B1	AIRE	EIF2B4	SPIDR	PRKN	TACR3	BCOR	STAG3	RAD21	VAMP7	ZFPM2	DCC	NR0B1	FGA	GNAS	DIAPH2	FMR1	FSHB	IL17RA	F5	TWNK	CCR6	VPS13C	C14orf39	HPS4	FGG	PROKR2	DHX37	EIF2B5	PML	PLIN1	HJV	SLC25A13	BMPR1B	BRD4	HMGA2	BMP4	COQ2	ITGA2B	SRY	HFE	ERAL1	NR3C1	VWF	BLM	CCDC141	SPRY4	WWOX	ANAPC1	NPHP3	CTDP1	GDF9	KISS1R	TFR2	PRKAR1A	POLG	WDR19	ABCD1	BMP2	FAS	F10	LIPE	RCBTB1	H6PD	SDCCAG8	B4GALNT1	CYP11B1	ZFHX4	SNORD115-1	WNT4	SNCA	SLC29A3	KISS1	PAPSS2	BSCL2	CYB5A	PSMD12	HARS2	NPM1	GHR	FIP1L1	YARS1	MRPS22	COL25A1	HAMP	CYP19A1	WDR11	F13A1	RNF216	AGGF1	SNORD116-1	MCFD2	CIDEC	AKT2	IQCB1	SYCE1	HDAC8	STAT3	CPE	PRKCD	TKT	SOX9	CEP164	CLEC7A	PINK1	IRF5	IGF2	PSMB8	F13B	ANTXR1	GATA3	STAT5B	ERCC6	TTI2	NF2	LARS2	FEZF1	IL17RC	XRCC2	WRN	RIN2	PPARG	FOXA2	SMO	WAS	GP1BB	IL17F	HESX1	AKT1	CDKN1C	TP63	EIF2B2	SLC37A4	ERCC8	SEMA3A	AGPAT2	GP6	PCSK1	SMARCB1	FANCM	GPR161	HLA-B	NIN	BLOC1S3	SUFU	ITGB3	IL17RD	MCM8	PHKA2	GGPS1	F7	NUP107	BBS9	ANOS1	FSHR	GNRH1	SRA1	TRAF3IP2	PWAR1	ZBTB16	ROBO1	WNT7A	CEP290	PDE4D	HSD17B4	MSH5	AXL	PROP1	NIPBL	IKZF1	GATA4	RARA	BLOC1S5	POLR3H	BPTF	MAP3K1	RASGRP1	INVS	UBAP1	SETD2	SIM1	FIGLA	CISD2	CDKN1B	POU1F1	POLG2	ITGA8	SLFN14	WIPF1	AARS2	TBL1X	LIG4	ATM	GPR101	MEN1	PDE11A	ESR2	NUMA1	GLI2	FOS	DMRT3	ATP7B	HTRA2	HERC2	NBN	TRMT10A	SOX3	PWRN1	TBL1XR1	SYNJ1	IRF2BP2	PEX6	MCM3AP	UCHL1	PEX1	SOHLH1	F11	EIF2B3	TRAF3IP1	CDKN2C	HFM1	SMCHD1	HLA-DRB1	PLAU	NOBOX
HP_FEMALE_SEXUAL_DYSFUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEMALE_SEXUAL_DYSFUNCTION	GNRHR	PROK2	ABCD1	PRKN	TACR3	KISS1R	FGF17	HTRA2	DCC	SEMA3A	PARK7	RTN2	COQ2	IKZF1	HS6ST1	IL17RA	CHD7	CCR6	CLEC7A	PINK1	IRF5	SPRY4	VPS13C	AIP	HESX1	FSHB	SYNJ1	UBAP1	PROKR2	HLA-B	SNCA	KISS1	DNAJC6	TAC3	IL17RD	DUSP6	NSMF	CDH23	PODXL	FLRT3	MEN1	FGFR1	CAV1	NDNF	UCHL1	ANOS1	FEZF1	IL17RC	FGF8	CCN2	CCDC141	WDR11	SOX10	IL17F	TRAF3IP2	HLA-DRB1	GNRH1	LRRK2
HP_DYSPAREUNIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSPAREUNIA	IL17RD	DUSP6	FLRT3	MEN1	PROK2	FGFR1	CAV1	NDNF	DCC	ANOS1	SEMA3A	FEZF1	SPRY4	IL17RC	IKZF1	CDH23	HS6ST1	CCN2	FGF8	CCDC141	IL17RA	FGF17	SOX10	CHD7	CCR6	CLEC7A	IRF5	TACR3	IL17F	TRAF3IP2	HLA-DRB1	AIP	HESX1	PROKR2	HLA-B	WDR11
HP_INCREASED_FEMALE_LIBIDO	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_FEMALE_LIBIDO	GNRHR	KISS1	PROK2	TAC3	WDR11	NSMF	TACR3	HS6ST1	FGFR1	KISS1R	GNRH1	SPRY4	FGF17	DUSP6	PROKR2	CHD7	FGF8
HP_ENCHONDROMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENCHONDROMA	COL2A1	POLR1B	RNASEH2B	RNASEH2A	PTH1R	TREX1	IDH1	PTPN11	RNASEH2C	ACP5	PRKAR1A	ADAR	POLR1C	IDH2	IFIH1	POLR1D	TCOF1	SAMHD1
HP_HIP_SUBLUXATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIP_SUBLUXATION	NEPRO	B3GALT6	PLOD1	BICRA	EIF4A3	LMNB2	ZNF407	DHCR7	TRAPPC12	AFF4	TONSL	SLC35A2	GNB2	KIF22	NFIX	THOC2	EIF2AK3	IFIH1	DDR2
HP_FLEXION_CONTRACTURE_OF_DIGIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLEXION_CONTRACTURE_OF_DIGIT	SMAD4	TGFB3	ITGB4	RPL10	PYROXD1	TP63	CDC6	EED	RTTN	TWIST2	XYLT1	DPM1	CDC42	BCOR	FLVCR1	EZH2	PAX3	HSPG2	ROR2	PIEZO2	FBN2	TOR1A	AMER1	EXOSC5	ERCC2	COL2A1	MMP2	LIFR	CANT1	FIBP	MYLPF	IGHMBP2	DSE	WDR4	TPRKB	CHRNG	CHD7	BRPF1	HOXD13	NEFL	SLC29A3	GORAB	SALL4	FGFR1	COL6A2	CRKL	SMAD3	COL6A3	DVL3	SLC26A2	DUSP6	TNNI2	PHGDH	GNRHR	KDM5C	ITGA7	SMC1A	DHODH	SNX14	LAMC2	ERLIN2	ERCC1	GLI3	EFNB1	WIPI2	NALCN	ZEB2	WDR73	SMG9	SKI	MYH3	LMBR1	TGFBR1	DSP	RAB3GAP1	ABL1	SMOC1	ECEL1	MED12	FLNA	GJA1	GPKOW	NSMF	MED25	POR	CCN6	AUTS2	PRDM16	SMS	MAP3K20	ALX3	PIGN	NXN	ZDHHC9	TGFBR2	ACTA1	COL11A1	MAGEL2	DVL1	DYRK1A	CDK13	SVIL	PRG4	GPC3	COL12A1	IDS	FGD1	TACR3	ADAT3	RTL1	RERE	NLRP3	FGFR2	ASXL1	DDR2	FERMT1	GMNN	SLC35A3	ADAMTS3	RIPPLY2	COL17A1	TPM2	DOK7	BMP4	PEX5	TNNT3	NT5C2	STAC3	KCNK9	TGDS	EPB41L1	EMG1	FGFR3	ITCH	ATP6V1A	COL6A1	KRT16	ZNF469	CDH3	SATB2	MSL3	MBTPS2	NOD2	DLL3	LGI4	CLCF1	MEG3	KISS1R	PIGL	ECE1	MAF	FBN1	FKTN	WNT5A	CRLF1	ATAD1	NUP88	L1CAM	HACD1	PHF6	OSGEP	COG5	TRPS1	KISS1	ANTXR2	TAC3	LMX1B	DLK1	TUBB3	PRDM5	THOC6	CDT1	PQBP1	PORCN	MYOD1	OCRL	POLR3GL	ORC1	KRT14	ORC4	KRT9	CAPN3	FGF17	SMARCAD1	ALG8	PITX1	NOG	CTCF	FBXW11	SPRY4	MEGF8	GDF5	LAGE3	COL11A2	PSMB8	NUP188	KAT6B	KRT1	ALG12	SHH	PRKCZ	DCHS1	TBX3	RAPSN	ZMPSTE24	CTDP1	CCDC32	IDUA	UBE4B	MESP2	TPM3	SUZ12	WDR11	ACTG2	HUWE1	CCBE1	DPAGT1	NSD1	NUP107	TMEM70	MYO9A	FZD2	KLHL7	COL3A1	LMNA	KCNAB2	SETD2	FHL1	COG1	C19orf12	LFNG	ERCC6	CNTN1	MMP23B	SLC39A13	KIF15	SETBP1	PDPN	ZNF407	ANO5	MAP3K7	MYL2	NAA10	MAPK1	PROKR2	UPF3B	MUSK	CDC45	MAFB	RIC1	CHN1	APC2	TBC1D2B	ALX1	SPEN	FAT4	H1-4	MEGF10	DYM	PPP2R5D	LAMB3	CHST3	TP53RK	MORC2	NUP133	SCARF2	CCDC22	KIAA1109	TRPV4	RAB23	FGF8	CASZ1	TCTN3	HS6ST1	ERCC5	GNRH1	SLC18A3	CUL4B	HINT1	MYBPC1	ARID1B	SELENON	PROK2	BCR	NEK9	MED13L	DPH1	GLUL	NKAP	LUZP1	HES7	IKBKG	TBX15	ASXL3	SLC35A2	JUP	TBR1	IPO8	GPC4	ZC4H2	POLR3A	PEX6	GABRD	PEX1	ARX	UBA1	SH3PXD2B	BHLHA9	EIF5A	TMEM218	PERP	LAMA3	PEX2	BGN	ORC6	ADAMTSL2	SPART
HP_ABNORMAL_LATERAL_VENTRICLE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LATERAL_VENTRICLE_MORPHOLOGY	GRIN1	YIPF5	ZIC1	CACNA1I	PEX10	CCDC174	HCCS	PRICKLE2	SNRPN	COX7B	ALG13	KIDINS220	CDH15	KIAA0586	MAP2K2	KIF1A	FBXW11	NCAPG2	CAMK2A	PPP2R5D	HIVEP2	KDM1A	CLCN3	TTC26	PPP3CA	ODC1	VPS51	GRIN2B	SET	FANCI	GRN	EEF1A2	ERBB4	NDUFB11	MYT1L	SON	CACNG2	DCX	CREBBP	ERMARD	DYNC1H1	MPDZ	RNU7-1	KDM5B	RAC1	VPS13A	SLC35A2	SETD1B	PTPN23	CAMK2B	PUS3	MED12L	KCNQ5	MBD5	WARS2	GFM2	KAT6B	EP300	ZMYND11	TUBB2B	CIC	GLUL	ZEB2	TAOK1	GCDH	TRPM3	DLL1	ZIC2	ASH1L	NBEA	CUX1	KIRREL3	SPG11	COG5	CLTC	TUBB3	ASXL3	DOCK8	PDHA1	DHX37	RAB11A	RAB3GAP1	TCF4	SEC31A	ZNF462	D2HGDH	CHAMP1	EZH2	CSNK2B	ANKRD11	DEAF1	MED25	PSAT1	SATB1	EPB41L1	HS6ST2	BRSK2	CSPP1	SYNGAP1	NEK1	LONP1	ATP6AP2	PIGG	KIAA0753	PPP1R12A	ARSI	STAG2	ALG2	ACP5	NFIX	KLHL15	TUBA8	TNFRSF11A
HP_COLPOCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COLPOCEPHALY	KIAA0586	ANKRD11	NCAPG2	PPP1R12A	ERMARD	ARSI	STAG2	PEX10	DHX37	HCCS	FANCI	KDM1A	MPDZ	CSPP1	SEC31A	COX7B	NDUFB11	KAT6B	ZNF462	TUBA8
HP_TIP_TOE_GAIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TIP_TOE_GAIT	DEAF1	TLK2	PSAP	DYSF	TPM3	SYT2	CRPPA	SPG11	MYO9A	ALS2	AGRN	SPTLC1	TMEM43	INPP5K	SIGMAR1	MT-TE	PI4KA	PNPLA8	DMD	POMT1	SBF2	CAPN3	SMG8	AASS	CHAT	KIF1C	SGCG	ADSS1	LMNA	GFM2	CYP2U1	FBN1	DDHD2	KIDINS220	PANK2	VAMP1	FKRP	FHL1	AIFM1	KCNA1	FKTN	SPTBN1	HADHA	VCP	B4GALNT1	ARSA	FUS	SYNE1	MYPN	BICD2	SGCA	MORC2	SLC25A1	LMX1B	KMT2B	HADHB	SLC5A7	COASY	GNB2	ATL1	ERLIN1	HARS1	COL12A1	SLC18A3	GJB1	SYNE2	ALDH18A1	LRSAM1	SNAP25	COL13A1	EMD	KY	TPM2
HP_INGUINAL_FRECKLING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INGUINAL_FRECKLING	SPRED1	PSENEN	NF1	POGLUT1	POFUT1	KRT5
HP_STIFF_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STIFF_SKIN	LMNA	SMAD4	FBN1	PSMB8	SLC29A3	ZMPSTE24	ADA2
HP_UNCOMBABLE_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNCOMBABLE_HAIR	TCHH	SKIV2L	TTC37	TGM3	PADI3
HP_AUTOIMMUNE_ANTIBODY_POSITIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AUTOIMMUNE_ANTIBODY_POSITIVITY	IFNGR1	TNPO3	FASLG	CTLA4	FCGR2A	TNFAIP3	STING1	GFI1	PRKCD	FOXP3	FAS	FCGR2B	COL4A6	COPA	RASGRP1	ACP5	HLA-DRB1	IL2RB	MMEL1	PTPN2	PGM3	FADD	MMP2	CARD10	PTPN22	CASP10	SPP1	IRF5	SPIB	IL10	BACH2	IL12A	COL4A5	ADA2	PLCG2	ITCH	IRAK1	DEF6	RIPK1	MS4A1	STAT4	NLRP1	CYBC1	IL12RB1	LACC1	RHAG	GRIN2A	RHD	CD247	SLC22A4	RHCE	FCGR3B	DNASE1	NFKBIL1	ANKRD55	ELANE	IL2RA	SRP54	TNFSF15	SOCS1	TREX1	CSF2RA	CD244	STAT1	ADA	CSF2RB	NFKB2	SLC7A7	CIITA	UBA1	TCIRG1	POU2AF1
HP_PRIMITIVE_NEUROECTODERMAL_TUMOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMITIVE_NEUROECTODERMAL_TUMOR	GPC3	APC2	KIF1B	HSPG2	SPEN	RERE	MSH6	KCNAB2	SETD2	RPS20	KEAP1	PHOX2B	BRAF	MLH3	LUZP1	TGFBR2	BMPR1A	RET	SEMA4A	YY1	GDNF	MLH1	FAN1	MMP23B	ASCL1	CDKN2A	MSH2	TP53	GPC4	PALB2	KRAS	TUBB	PMS1	DICER1	PDPN	PRKCZ	EPCAM	MAPRE2	PTPN11	PRDM16	PMS2	GABRD	SKI	RAF1	NF1	SDHB	RUNX1	CHEK2	BDNF	FLI1	UBE4B	CASZ1	MDM2	PIK3CA	EDN3	NUTM1	MYO1H	BRD4	NSD1
HP_CENTRAL_PRIMITIVE_NEUROECTODERMAL_TUMOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_PRIMITIVE_NEUROECTODERMAL_TUMOR	MDM2	DICER1	CHEK2	KEAP1	CDKN2A	TP53
HP_BURKITT_LYMPHOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BURKITT_LYMPHOMA	FASLG	FAS	RHOH	RASGRP1	PRKCD	MYC	XIAP	SH2D1A	CASP10
HP_ABNORMAL_DRINKING_BEHAVIOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DRINKING_BEHAVIOR	HSD11B2	ARNT2	CDC73	CLDN16	SLC12A3	TMEM67	LZTFL1	KCNJ5	NPHP3	SOX2	CISD2	IRF4	SLC5A2	NLRP3	NPHP4	CYP11B2	SLC41A1	CYP11B1	PTPN22	HPSE2	CACNA1D	CTNS	FGFR1	AQP2	KCNJ10	AVPR2	DZIP1L	WFS1	SOX3	NKX2-1	OTX2	ITPR3	INSR	HNF1B	LRIG2	NPHP1	KCNJ1	BBS9	PROKR2	IL6	CLDN10	HNF1A	CASR	CLCNKB	HESX1	DCDC2	PKHD1	AVP
HP_CLINODACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLINODACTYLY	RERE	SMAD4	OFD1	NTNG2	PRKACB	CITED2	ZMIZ1	CDC6	TRMT1	BRAT1	CLCN4	DLK1	NDN	SRCAP	RAD51	RB1	XYLT1	BRAF	RRAS	RAC3	RBM8A	CKAP2L	CDC42	NKX2-5	RIT1	EVC	GTF2I	FANCC	BCOR	NKX2-6	NCF1	SPRTN	CHSY1	ROR2	DOCK3	MAPK8IP3	FBXO11	RAB11B	KDM1A	TRIP12	PHF21A	MED27	EIF4H	HDAC4	FAM149B1	PIGW	GATA6	RUNX2	PAX3	TRIO	AMER1	FANCF	EXOSC5	SATB2	ERCC4	FANCD2	PAH	RBM10	IGF2	ODC1	CANT1	MAN1B1	GATA4	MYLPF	TWIST1	MYCN	RSPRY1	FGF10	SMARCA4	RPL10	HOXD13	SLC29A3	OBSL1	ACTL6B	BMPR1B	ESCO2	ATG7	BBS7	EMC10	CRKL	PAFAH1B1	FANCL	DPYSL5	DVL3	NEK1	HOXA11	SMC3	TBX4	PLAG1	PHGDH	PTPN23	PACS2	BHLHA9	KDM5C	TBCK	SMC1A	DSP	SNX14	SMARCB1	MEG3	EFNB1	WIPI2	WDR35	COLEC10	SIN3B	NUP37	MRAS	BUB1B	KCNMA1	WDR4	MAD2L2	SHANK3	MED13L	ARHGEF6	FANCA	PPP2R1A	BCL7B	CLCN3	LMBR1	MYOD1	ARID1A	BRCA1	IQSEC2	KNSTRN	TCF4	FBXW11	WDFY3	PIK3C2A	FGFR2	TCF20	FGFR1	ABL1	MKRN3	BPTF	SMOC1	TFAP2B	NIPBL	TASP1	CD96	TOPORS	GJA1	SOX11	MED25	MED12	POR	ZNF711	RTL1	ATRX	TELO2	PRDM16	ARID1B	CHD7	PITX1	NARS1	ALX3	BCORL1	NXN	RLIM	LMNA	METTL27	NPR2	KCNN3	LMNB2	NPAP1	CREBBP	PIGN	STAMBP	FLT4	CEP57	FANCB	CCDC32	MAGEL2	FAT4	DVL1	SNRPB	USP9X	CDK13	AKT1	MAP1B	FANCI	MYT1L	ATP6V1B2	PKDCC	GPC3	CENPJ	GPC4	FGD1	CCNQ	GDF5	RAD21	LEMD3	TRRAP	ELN	SNRPN	GMNN	SLC12A2	RNF6	RFC2	KRAS	LIG4	PNPLA6	QRICH1	UBR7	COG8	KMT2E	RBBP8	DLG3	UBE3B	PRR12	FKBP6	SPRED2	KIAA0753	BRD4	CDH1	IRX5	GRIA4	POMP	HMGA2	BMP4	RAB18	HPDL	MACROH2A1	ATR	KCNJ2	SMARCD1	FLNA	PGAP2	PIK3R1	CSGALNACT1	ZFPM2	FOXP1	RAI1	TGDS	VPS13B	EPB41L1	EMG1	POLA1	FRMPD4	ITCH	GATA5	BUD23	RAB39B	REV3L	RAD51C	CDK10	FANCE	DNAJC30	SLC2A10	TCF7L2	PCNT	RNU4ATAC	KIF7	PHIP	PUS7	DLX3	FLI1	SIAH1	COL11A1	GDF1	FLII	SYNCRIP	PIGL	SPOP	AGTR2	VPS37D	POC1A	DEAF1	WNT5A	AGO2	LMX1B	SALL1	PIK3CD	IGF1R	L1CAM	PTH1R	NOG	NUP107	COG5	CCDC8	TBX1	SMARCA2	BUB1	FN1	RNF2	TRPS1	IL11RA	SNORD115-1	ZNF462	NTNG1	TRIP13	EP300	TRPV4	SPTBN1	B3GLCT	CNOT3	YWHAE	USP27X	H19	BRCA2	XRCC2	PLXND1	IHH	CPLANE1	SOX5	RNF216	KAT8	CDT1	ACVR1	SETD1A	ZNF81	KMT2A	PAK3	SNORD116-1	MECP2	PIEZO2	KCNJ11	PQBP1	AMMECR1	PTPN11	MBD5	KDM6B	ORC1	MLXIPL	HDAC8	RALA	ORC4	KDM4B	ARID2	IFT122	XRCC4	INPP5E	DONSON	FLNB	MCTP2	FIG4	TBC1D24	CTCF	RAF1	ZNF41	EIF4A3	PSMD12	AFF2	MED13	GDI1	SPECC1L	C12orf57	CEP152	LIMK1	FTSJ1	CNOT2	KCNK4	TFAP2A	NUP188	KAT6B	PUF60	CACNA1G	ALG12	SHH	PRKCZ	CHRNA7	UBE4B	SLC35A1	SEMA3E	KDR	EVC2	TNRC6B	NEXMIF	SLC9A7	USP7	FGFR3	HUWE1	DPAGT1	CNKSR2	CDKN1C	CENPE	TANC2	TP63	NONO	INTU	FZD2	PACS1	SOX4	DDX6	JAG1	BCAS3	PALB2	KCNAB2	PPP1R15B	SMARCC2	MADD	DMD	PALS1	BMP2	PIGV	FANCG	TRAPPC9	PIGS	ACSL4	SOS1	ACTL6A	DHPS	NPR3	MMP23B	NIN	KPTN	SYP	KIF15	MIA3	CUL7	SHOX	PDPN	MAP3K7	SMARCE1	KLF13	NSUN2	TSPAN7	SPRED1	GNB2	DACT1	NAA10	ABCC8	UBR1	MAPK1	STAG2	WDR19	NRAS	SOS2	DLEC1	MKS1	BUB3	TBL2	YY1AP1	SUZ12	EXT2	PWAR1	AP1G1	CDC45	MASP1	WNT7A	HS2ST1	IGF1	TRAF7	ANKRD17	IFT43	RASA2	MAF	FANCM	WWOX	ALG3	HSPG2	IL1RAPL1	DCHS1	ALX1	SPEN	MTRR	TMEM216	MECOM	G6PC3	SATB1	NUP85	STAG1	POLE	TMEM270	BRIP1	ANKRD11	NCAPG2	ZC4H2	PUM1	DYM	PAX1	DPF2	SOX6	HTT	ATRIP	SSR4	PGAP3	SLX4	KIFBP	MID2	STX1A	PIGY	SIN3A	CCDC22	KIAA1109	BAZ1B	RAB23	CASZ1	ARX	RRAS2	ERMARD	ALG13	PLK4	LMBRD2	CUL4B	HIC1	STEEP1	LZTR1	TNNT3	B3GALT6	BCR	GTF2IRD2	TCTN3	CLCF1	SVBP	PCGF2	NSMF	PIGH	PDE6D	RHOA	BLM	PIGO	HERC2	UBE2T	SPART	MAP2K1	KCNJ5	HOXA13	UBE3A	HEPHL1	LUZP1	TRMT10A	IFT52	TBX15	PWRN1	ZNF292	UPF3B	WASF1	RPS6KA3	PTEN	JUP	ZMYM2	EZH2	COL2A1	TRAIP	GJA5	CSNK2A1	SF3B4	PTCHD1	RFWD3	GABRD	SKI	DLX5	TBX5	TGFBR2	SH3PXD2B	DDX11	CLIP2	CBL	TRAPPC4	GTF2IRD1	OGT	CEP55	NFIX	ORC6	JARID2	HCFC1
HP_INCREASED_SERUM_TESTOSTERONE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_SERUM_TESTOSTERONE_LEVEL	FSHR	HSD3B2	INSR	AR	WNT4	POLR3A	GNAS	CYP11B1	NR2F2
HP_ABNORMAL_MUSCLE_FIBER_PROTEIN_EXPRESSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MUSCLE_FIBER_PROTEIN_EXPRESSION	POMT2	COL12A1	FKRP	CRPPA	DAG1	TMEM43	GFER	POMT1	POMGNT1	COL6A1	FKTN	GMPPB	LMNA	DMD	DYSF	POMK	CAV3	SYNE2	FHL1	MYOT	COL6A2	CRYAB	EMD	LAMA2	COL6A3	LARGE1	SYNE1
HP_ABNORMAL_MUSCLE_FIBER_ALPHA_DYSTROGLYCAN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MUSCLE_FIBER_ALPHA_DYSTROGLYCAN	POMT2	FKRP	CRPPA	DAG1	POMT1	POMGNT1	FKTN	GMPPB	POMK	LARGE1
HP_ABNORMALITY_OF_THE_ENDOMETRIUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_ENDOMETRIUM	SEC23B	MLH1	SDHD	PIK3CA	MSH2	MSH6	POLE	POLD1	SDHC	PTEN	SDHB	SLC6A17	THOC6	PMS2	NTHL1	AKT1	KLLN	CDH1	MSH3	BMPR1A	USF3	MLH3	GREM1
HP_PROLONGED_BLEEDING_FOLLOWING_CIRCUMCISION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROLONGED_BLEEDING_FOLLOWING_CIRCUMCISION	MCFD2	ITGA2B	F5	F13A1	LMAN1	ITGB3	F13B	F8	F2
HP_ORAL_CAVITY_BLEEDING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORAL_CAVITY_BLEEDING	PML	IRF2BP2	RARA	NABP1	F5	F13A1	NUMA1	STAT5B	BCOR	NPM1	KIF23	PRKAR1A	TBL1XR1	FIP1L1	ZBTB16	STAT3	F13B	F8	F10	F2
HP_ABNORMAL_BOWEL_SOUNDS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BOWEL_SOUNDS	HLA-DRB1	CAV1	CCN2	SDHD	SLC5A1	CCR6	IRF5	DAXX	ATRX
HP_ABNORMAL_LIVER_PARENCHYMA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LIVER_PARENCHYMA_MORPHOLOGY	PTRH2	PMM2	NPHP3	BMPER	BTNL2	SLC25A13	JAK1	HLA-DRB1
HP_TRUNCAL_TITUBATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRUNCAL_TITUBATION	BRAT1	FLVCR1	ACBD5	FAM126A	THG1L	SLC19A3
HP_CARDIOGENIC_SHOCK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIOGENIC_SHOCK	MYL2	RPL3L	NAA10	DAXX	ATRX
HP_CHOLANGITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOLANGITIS	CIITA	IGKC	ABCB4	REL	RFX5	PKHD1	RFXANK	WDR35	CD40LG	RFXAP	IL21R	DCDC2	IGHG2	ITCH	BCS1L	CLDN1	IL36RN	KIF12	MED12	DZIP1L
HP_CHOLANGIOCARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOLANGIOCARCINOMA	PKHD1	HFE	TCF4	MST1	DZIP1L	GPR35	SEMA4D
HP_FLANK_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLANK_PAIN	TBX18	APRT	MPL	TET2	JAK2	CALR
HP_ABNORMAL_VASCULAR_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VASCULAR_PHYSIOLOGY	FSHR	FLNC	EOGT	SMAD9	IL12A-AS1	CALR	MLXIPL	IRF5	MT-ND6	TGFBR1	IL12A	LBR	MYBPC3	SFTPB	STING1	COL4A1	FGFR1	PLOD1	ABCD4	XPNPEP2	APP	HLA-B	MAT2A	TNNT2	GBA	TBX20	SLC4A1	FBN1	COQ2	FIG4	GTF2I	ACTB	ABCC6	CTLA4	NCF1	CTCF	HSPG2	NT5E	SMARCAL1	NPPA	FGFR3	LIMK1	XYLT1	EIF4H	ACTG1	GNAQ	VPS33A	PIEZO1	NKX2-5	MT-TW	VAC14	TTC26	JAK2	COX5A	LIFR	ERAP1	MT-TH	ARHGAP31	SPP1	ZMPSTE24	SLC2A10	HBB	NDUFB10	THSD1	SERPINC1	BRCC3	USP8	PROC	TET2	MT-CO1	SLC29A3	CCN2	COLQ	MPL	ALB	FKBP14	KIF20A	RASA1	CBS	TGFBR2	IRAK1	MT-ND1	KRT8	DEF6	CLCNKB	LAMA2	MUC5B	TREX1	LMNA	RNF125	MLX	COL5A2	RNASEH2C	STAT4	ACTA2	UBAC2	SMAD4	ZNF699	IFIH1	MFAP5	TBX4	SLC25A24	SARS2	CA2	TNNI3	RNASEH2B	SLC12A3	LAMB2	SLC37A4	SMAD3	MEFV	BMPR2	CAV1	CDH23	CTNNB1	SCN5A	SFTPA2	PGM1	COG1	BCL7B	SH2B3	MT-TF	CLCN7	HLA-DPA1	GUCY1A1	NOTCH3	FOXF1	TGFB2	ALMS1	ACVRL1	MMACHC	NF1	MT-CO3	MYH11	NKX2-1	ADA2	GATA4	TNFSF11	P4HA2	SCNN1A	MED25	XYLT2	CITED2	COL3A1	SLC34A2	NOTCH1	CCR1	MT-CO2	STAT1	EIF2AK4	SCNN1G	GNB2	TGFB3	TLL1	TERT	PIGN	HABP2	MT-TL1	METTL27	GJA1	TBL2	COL1A2	AKT1	PIGA	FLNA	PTPN22	SAMHD1	RTL1	SCARB2	ENG	AGXT	MYPN	LOX	RNF213	G6PC3	ADAR	SPECC1L	ELN	TGFBR3	NFIX	PIK3CA	COX6B1	TMEM270	TLR4	SFTPC	RFC2	LIPT1	CCR6	COX7B	ACP5	IL10	CD55	MT-TS2	PPCS	PROS1	PRKG1	COL1A1	NAGS	PIK3C2A	CHST3	KCNN4	KRT18	FKBP6	PAM16	STX1A	GLA	GATA6	GDF2	THPO	DOCK6	BAZ1B	MEG3	FOXP1	BTNL2	SON	KCNJ5	BUD23	MT-ND5	UBE2A	IL12B	DNAJC30	MYH6	PLP1	ACTC1	ENPP1	KRAS	ATP5F1A	COX8A	GTF2IRD2	SNX10	HLA-DRB1	MGP	IFNGR1	EPHB4	PLOD3	VPS37D	NOD2	TCIRG1	BRAF	CACNA1D	C4A	PRTN3	SMAD2	HTRA1	KIAA0319L	BANF1	MTHFR	IKBKG	TP53	RYR1	MYH7	PTEN	SCNN1B	FOXE3	RPL3L	ANGPTL6	IPO8	F13A1	DLL4	HLA-DPB1	KLRC4	COL5A1	NDUFA8	KCNK3	MYLK	HFE	NFU1	MED12	DLK1	IDUA	F5	IL23R	HEY2	CLIP2	RBPJ	MT-ND4	RNASEH2A	AGGF1	F2	FAS	AFF4	GTF2IRD1	MT-TQ	PDSS1	ADAMTS13
HP_NIGHT_SWEATS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NIGHT_SWEATS	IFNGR1	STAT6	BCL6	NAB2	SLC25A13	SDHD	HLA-DRB1	TH	TSPOAP1	UBA1	GATA2	JAG1	BCL2
HP_PERIPHERAL_HYPERMYELINATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_HYPERMYELINATION	MPZ	NEFL	SOX10	SBF2	PMP22	MTMR2
HP_ABNORMALITY_OF_CENTRAL_NERVOUS_SYSTEM_ELECTROPHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CENTRAL_NERVOUS_SYSTEM_ELECTROPHYSIOLOGY	PRODH	UNC80	MECP2	DCPS	MYO9A	ARG1	CNPY3	AGRN	PIGA	NCDN	SLC2A1	STUB1	SRPX2	YEATS2	DPM2	DOCK7	SYNGAP1	PEX3	VCP	GABRA1	CLCN2	CYP27A1	PIGW	CHRNA2	PHGDH	WDR4	CILK1	ASL	RPL10	TRAF3	MT-CO1	NEFL	KCNT1	ST3GAL3	MT-ND1	STRADA	PDE2A	CNTNAP2	CTNNA2	GLYCTK	CC2D1A	ARV1	TIMM50	CNTN2	SH3TC2	NRAS	RTN4R	NLRP3	FMN2	UNC93B1	ATP1A2	MT-TF	GALC	PEX6	SCN2A	ADRA2B	SPTBN1	CSTB	RAI1	TRAPPC11	MAPT	PEX12	UBA5	KCNA1	GABRD	SMS	MARCHF6	SYT1	CUX2	TUSC3	MT-TL1	GNB1	GABRB2	CREBBP	NSUN2	FKTN	GRN	PEX11B	SCARB2	PEX16	SLC44A1	DAOA	SCN1A	KDM6A	PLAA	PIK3CA	KCNMA1	EFHC1	SLC1A2	LIPT2	PEX13	KCNA2	NGLY1	ARFGEF2	CACNB4	AARS1	B3GALNT2	KCNQ3	PAX6	PEX26	OCA2	SYNJ1	UBE3A	CDK19	RUSC2	DOCK6	SPATA5	ACTL6B	HIBCH	SNIP1	CABP4	ROGDI	ERCC6	PRPS1	HCN1	CDKL5	COL13A1	DNM1	SCN9A	GUF1	ARX	PNKP	MFF	PEX14	LAMC3	CLTCL1	SCN1B	AASS	GRIN2A	TUBGCP2	DEAF1	RNF13	EP300	PSEN1	IARS2	GABRA5	PTS	EMC1	PIGT	ERCC8	PDHA1	FGF12	TFE3	DLL4	CNKSR2	MED23	PARS2	ADGRG1	APOL2	NECAP1	PSAT1	CLTC	GLUD1	YWHAE	ALG14	GNAO1	CLCN4	PHACTR1	GABBR2	COX4I1	LARS2	FARS2	KCNJ11	CACNA1A	MT-ND6	PURA	TRIT1	CEP85L	AP1S2	TICAM1	KCTD7	LGI1	GABRG2	PIGG	CTBP1	PCDH19	CHD2	KCNT2	PSAP	TBC1D24	NSF	NUP188	PNPO	MT-TW	TRAPPC9	FGF13	PRKCZ	PCK1	COX16	GABRA2	GPAA1	ANTXR1	SNRPN	PIGL	NECTIN1	NEXMIF	PEX5	GABRB3	PTRH2	ATP1A3	HMGCL	DOLK	NDUFA9	AP3B2	BRAF	GABRB1	SYT2	XPA	KCNAB2	UPB1	CHAT	SPTAN1	IREB2	PIGQ	FRRS1L	CACNA1H	OCRL	PEX19	PIGS	FDXR	MT-CO3	SLC25A46	SETBP1	PDPN	NOTCH1	COQ2	PRNP	KCNQ2	SLC25A22	LINS1	NPRL3	SQSTM1	ERCC4	TMEM106B	LONP1	PRRT2	ALDH7A1	UBE4A	SOX10	EZR	XPC	CPA6	MYH3	PEX1	TGFB1	RSRC1	TBC1D2B	ALG3	HSPG2	GAD1	CPLX1	MED17	AHSG	GMPPB	DDB2	SPEN	SIK1	MAP2K1	CELF2	APC2	NTRK2	VAMP1	PHF6	SPTBN4	GRM7	NMNAT1	GNB5	MT-TS2	NLGN3	PGAP3	UGDH	MORC2	CLN8	PAFAH1B1	PIGY	STXBP1	ALG13	SLC12A2	ANKRD11	KPTN	EIF2S3	ERMARD	MT-ND5	RMRP	CUL4B	CHRNA4	SLC45A1	MPDU1	SLC13A5	MED13L	YWHAG	KDM5B	GRIK2	TRAPPC12	CRADD	DENND5A	PEX2	ERCC3	ALKBH8	AARS2	EDNRB	SLC35A2	NDUFAF8	SYN2	ALG11	MAN1B1	FOXG1	DHDDS	WDR73	ERCC2	MDH1	IQSEC2	TBK1	ATXN10	DALRD3	SACS	TREM2	SZT2	FLCN	SEMA6B	KANSL1	CCDC88A	ITGB6	POMT2	APOL4	TIMM8A	MTMR2	ZNHIT3	SCN3A	CHMP2B	TUBB2A	AHDC1	AP2M1	NHLRC1	SLC25A1	MT-TH	TPRKB	MADD	C12orf4	ADGRV1	TBCK	SMC1A	AKT3	NALCN	ARHGAP31	JRK	SLC1A4	AIMP2	GRIN1	NTNG1	ZEB2	KCNB1	NDP	AFG3L2	HNMT	ATP10A	EBP	MT-CO2	PRDM16	POGZ	GJC2	LMAN2L	NSD2	GRIN2B	TLR3	GRIN2D	MAP1B	ATP6V1B2	MYD88	PIGP	EPG5	ANKRD17	SCN8A	DRD3	GFM2	RERE	CLIP1	LSS	SLC6A1	EEF1A2	WASHC4	NPRL2	PGAP1	SATB1	OPA1	CARS2	PPT1	SLC5A7	CPT1C	SAMD12	ERCC5	MCOLN1	PGAP2	FKRP	NAA20	NTNG2	FOXP1	TECR	FBXO31	MFSD8	PPP3CA	OTOF	PI4KA	LRPPRC	CLTRN	ADARB1	WDR45	DMXL2	ABCD1	PRSS12	CYFIP2	FLII	PTPN23	CASK	POMGNT1	ATAD1	KIF1A	PLCB1	METTL23	SETD1B	EDC3	DAG1	DEPDC5	ERCC1	NF1	AIMP1	CTNND2	MT-ND4	BCS1L	PDSS2	NBEA	CACNA1E	SLC6A19	EOGT	MOGS	NEUROD2	TRIM8	KRAS	MED25	PIGC	ZC3H14	NLGN4X	TYROBP	MTHFR	ATP6V1A	LAGE3	SLC12A6	SARS1	CHI3L1	IER3IP1	C9orf72	HTR2A	NUS1	KCNH1	UBE4B	CUL3	SNAP25	DCX	DPAGT1	UBTF	NUP107	AP3D1	IQSEC1	ATXN1	OSGEP	PLP1	NACC1	EPM2A	PIGV	TET3	DIAPH3	ST3GAL5	CLCN6	DHPS	MBOAT7	MMP23B	DPM1	MGAT2	CRBN	CACNA1B	TTC5	GNB2	ABCC8	HNRNPU	NOTCH2NLC	ALDH4A1	VAMP2	ASNS	NDRG1	HRAS	WWOX	MAF	TNIK	FGFRL1	POMT1	COMT	DPYD	HCFC1	CCDC47	EXOC8	PEX10	CLN5	ARHGEF9	HECW2	TP53RK	CRH	NUP133	UFSP2	NDST1	SLC25A10	TRAK1	SLC18A3	CASZ1	NEU1	HIC1	SLC9A6	P4HTM	RELN	PLPBP	PRICKLE1	PIGO	ABCA5	LETM1	KMT2D	SLC39A8	LUZP1	LARGE1	ALG2	MAP2K2	CHRNB2	LMNB1	STX1B	SKI	ALDH5A1	MAPK10	RBPJ	RTTN	NEMF	ACOX1	MT-TQ	AP1G1	STARD7
HP_ABNORMAL_PERIPHERAL_ACTION_POTENTIAL_AMPLITUDE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PERIPHERAL_ACTION_POTENTIAL_AMPLITUDE	SPTLC1	SPTLC2	MORC2	TRPV4	BSCL2	UQCRC1	FXN	VPS13A	HK1	TFG	ATL1	MPV17	LMNA	SYT2	CADM3	ATL3	SORD	ATXN1	SBF2	CCT5	DHX16	NDRG1	HSPB8
HP_TETRAPLEGIA_TETRAPARESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TETRAPLEGIA_TETRAPARESIS	RERE	KCNQ2	AUH	AFF3	GABRA3	TACO1	MRM2	NAXE	SELENOI	ALS2	DPYD	HSD17B10	GAD1	ALDH18A1	FGFR1	POLR3K	KCNJ6	BCAS3	TXNRD2	FA2H	TARDBP	L2HGDH	PRPS1	PDHX	LIPT2	LMNB1	CHCHD10	LIPT1	TFG	SLC19A3	COA8	SDHB	KCNT1	ARFGEF2	LIMS2	PNP	NMNAT1	SDHA	ATP6V1A	STAR	NEK1	CACNA1S	LRP4	NUP62	CARS2	VCP	PAFAH1B1	SLC25A10	ARSA	UGP2	GSS	RANBP2	MT-ATP6	ADAR	REEP1	TBCD	PSEN1	LMX1B	FUS	SOD1	ARX	PRDM8	PHACTR1	EIF2S3	NHLRC2	EXOSC8	TBCE	NADK2	PRF1	SLC18A2	MRAP	GALC	HINT1	PLP1	BSCL2	ATP1A2	PLA2G6	RNU7-1	GM2A	BCAP31	APOE	TBK1	ERLIN2	SMC1A	CA2	KRAS	SQSTM1	COL4A1	FAR1	AASS	MFSD2A	PRUNE1	NNT	ALG3	TRAPPC2L	UCHL1	GBE1	PSAP	KCNJ18	ATP1A3	LYRM7	C9orf72	SLC35A2	TNR	CACNA1A	SLC1A3	TNFRSF11A	AGTPBP1	NDUFA8	GJA1	TMEM222	NEXMIF	SOX4	ABCD1	PSAT1	STXBP1	IFIH1	EARS2	WDR62	SDHAF1	FBLN1	MC2R	TRAPPC4	SDHD	NDUFS3	MOCS1	STAMBP	AIFM1	DYM	SARDH	PPOX	PNKP
HP_KINETIC_TREMOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KINETIC_TREMOR	SACS	ITPR1	FBXO7	VWA3B	SEMA6B	MRE11	PNPLA6	PSAP	AKT1	VLDLR	OPHN1	CACNA1A	ELOVL4	TGM6	FXN	FMR1	RFC1	NOP56	RNU12	NOTCH2NLC	ARSA	TBP	QRICH1	SLC25A46	ATP2B3	ERCC3	MPLKIP	CCDC88C	CTDP1	GSS	ATCAY	SLC6A17	PIK3CA	RNF113A	GTF2E2	EPRS1	FAM126A	ANO10	PEX10	TMEM70	POLR3B	ERCC8	KCNJ10	NFASC	UFC1	SPTBN2	NONO	MAOA	TENM4	AFG3L2	GJC2	PTEN	PRICKLE1	SNCA	ITM2B	SCYL1	KIF1C	XPNPEP3	RARS1	UCHL1	PIK3CD	SCP2	SCARB2	SPTBN1	KNSTRN	POU4F1	PPP1R15B	CSTB	PPP2R2B	ABCB7	POLR3A	ABHD12	GJB1	NKX2-1	FARS2	LMNB1	GTF2H5	TARS1	ERCC6	ATXN2	TMEM240	LEMD2	CAMTA1	PLA2G6	TMEM63A	ERCC2	TMEM106B	CWF19L1	ATXN10
HP_TITUBATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TITUBATION	KIF1C	LAMA1	VPS13A	LMNB1	SPG11	ALS2	THG1L	SPTLC1	SIGMAR1	PLP1	BRAT1	EIF2AK2	HIBCH	PITRM1	MAG	NKX6-2	IFRD1	UCHL1	TMEM63A	FLVCR1	KCNC3	FAM126A	SLC19A3	SPTBN1	ACBD5	FUS	GJC2
HP_TREMOR_BY_ANATOMICAL_SITE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TREMOR_BY_ANATOMICAL_SITE	LAMA1	MARS1	VPS13A	CNTN2	TENM4	SPG11	AFG3L2	ALS2	SPTLC1	SIGMAR1	PLP1	ABCB6	ERLIN2	EIF2AK2	STUB1	TRIM8	DNMT1	COL6A3	PIK3R5	TSHR	IFRD1	SLC6A17	UCHL1	SCP2	TFG	NOP56	UBE3A	ADRA2B	ITPR1	NOTCH2NLC	SPTBN1	C19orf12	DDC	YEATS2	SH3TC2	TOR1A	PPP2R2B	PMP22	ITPA	MYBPC1	FUS	GJC2	KIF1C	DRD3	MORC2	CARS2	PGAP1	SMN1	LMNB1	GCK	SAMD12	SETX	MARCHF6	PDK3	ANO3	RAB3GAP2	MFN2	HIBCH	FGF14	MPZ	GBA2	NKX6-2	NEFL	CTNND2	TMEM63A	GJB1	CACNA1G	ZFYVE26	PEX6	TAF1	SNRPN	SLC12A6	CIZ1	TUBB4A	ZFR	SMN2
HP_FATIGABLE_WEAKNESS_OF_BULBAR_MUSCLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FATIGABLE_WEAKNESS_OF_BULBAR_MUSCLES	CFAP410	PFN1	SELENON	MTM1	PPARGC1A	ITGA7	DKK1	FUS	CHCHD10	PRPH	NEB	KLHL41	GIPC1	VCP	TAF15	TREM2	C9orf72	PON1	SOD1	LPIN1	HACD1	COA8	NGLY1	ATXN2	OPTN	NEFH	TBK1	MYPN	MT-CO1	ANXA11	NOTCH2NLC	KBTBD13	CCNF	TPM2	GLT8D1	ACTA1	EPHA4	DCTN1	PON3	ANG	CHMP2B	MYL2	GLE1	FIG4	DAO	DES	UNC13A	MAP3K20	SQSTM1	TPM3	GMPPB	VAPB	HNRNPA1	NEK1	PON2	MT-CO3	ERBB4	TARDBP	UBQLN2	MATR3
HP_FATIGABLE_WEAKNESS_OF_SWALLOWING_MUSCLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FATIGABLE_WEAKNESS_OF_SWALLOWING_MUSCLES	CFAP410	PFN1	MTM1	GLT8D1	PPARGC1A	DKK1	EPHA4	FUS	CHCHD10	DCTN1	PRPH	PON3	ANG	CHMP2B	GLE1	FIG4	DAO	VCP	UNC13A	TAF15	TREM2	SQSTM1	C9orf72	PON1	SOD1	LPIN1	VAPB	HNRNPA1	COA8	NEK1	PON2	ATXN2	OPTN	MT-CO3	NEFH	ERBB4	TBK1	TARDBP	MT-CO1	ANXA11	UBQLN2	CCNF	MATR3
HP_FATIGABLE_WEAKNESS_OF_RESPIRATORY_MUSCLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FATIGABLE_WEAKNESS_OF_RESPIRATORY_MUSCLES	CFAP410	PFN1	PPARGC1A	CHRND	FUS	CHCHD10	PRPH	LMOD3	VCP	CFL2	TAF15	TREM2	C9orf72	ACTA1	KLHL41	DOK7	MUSK	PON1	SOD1	CHRNE	AGRN	ATXN2	OPTN	NEFH	RRM2B	TBK1	LRP4	ANXA11	CHRNA1	CCNF	GLT8D1	EPHA4	CHRNB1	SCN4A	RNASEH1	DCTN1	PON3	ANG	TPM2	CHMP2B	CACNA1S	GLE1	FIG4	DAO	DES	UNC13A	KCNE3	AK9	SQSTM1	RAPSN	VAPB	HNRNPA1	NEB	NEK1	PON2	ERBB4	TARDBP	COL13A1	UBQLN2	MATR3
HP_FATIGABLE_WEAKNESS_OF_SKELETAL_MUSCLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FATIGABLE_WEAKNESS_OF_SKELETAL_MUSCLES	POMT2	FKRP	TPM3	CHRND	CHRNB1	SCN4A	ACADM	TFG	LDB3	TPM2	FLNC	CDH23	LMOD3	CASQ1	CFL2	CHRNA1	AK9	KCNK9	USP8	ACTA1	KLHL41	DOK7	ORAI1	RAPSN	MUSK	POMT1	TOE1	CHRNE	NEB	AGRN	LRP4	HINT1	COL13A1	LARGE1	GMPPB	STIM1	MINPP1	MYPN
HP_FATIGABLE_WEAKNESS_OF_DISTAL_LIMB_MUSCLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FATIGABLE_WEAKNESS_OF_DISTAL_LIMB_MUSCLES	ACTA1	KLHL41	HINT1	LMOD3	CFL2	LDB3	NEB	TPM2
HP_FATIGUABLE_WEAKNESS_OF_PROXIMAL_LIMB_MUSCLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FATIGUABLE_WEAKNESS_OF_PROXIMAL_LIMB_MUSCLES	ACTA1	KLHL41	ORAI1	TPM3	TFG	NEB	TPM2	FLNC	CDH23	LMOD3	CASQ1	STIM1	CFL2	KCNK9	USP8	MYPN
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	GMPPB	COLQ	DPAGT1	ALG2	GFPT1	LAMB2	ALG14
HP_SLOW_PUPILLARY_LIGHT_RESPONSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SLOW_PUPILLARY_LIGHT_RESPONSE	PSAP	CHRNA3	COLQ	GALC	PRPS1	MPZ	PMP22	LAMB2	TULP1
HP_COLLECTIONISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COLLECTIONISM	SLC6A4	TMEM106B	C9orf72	TREM2	VCP	GRN	PSEN1	CHMP2B	MAPT	HTR2A	SQSTM1
HP_EMOTIONAL_BLUNTING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMOTIONAL_BLUNTING	TMEM106B	C9orf72	DPAGT1	PSEN1	TREM2	VCP	GRN	CHMP2B	MAPT	SQSTM1
HP_INAPPROPRIATE_CRYING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INAPPROPRIATE_CRYING	ALG9	SLC19A3	GALC	IQSEC2	TBC1D2B	GABBR2	FOXG1	CDKL5	PSAT1	SMC1A	PIGS	SLC18A2	PSAP	MECP2	KIF15	NTNG1	PHGDH
HP_VISUAL_AGNOSIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VISUAL_AGNOSIA	TMEM106B	CHMP2B	CEP85L	TREM2	GRN	C9orf72	ABCD1	PSEN1	MAPT
HP_PERSEVERATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERSEVERATION	TBK1	C9orf72	TACO1	TARDBP	SQSTM1	PSEN1	TREM2	TMEM106B	GRN	MAPT	FUS	USP7	CHCHD10	CHMP2B	NPC2	VCP	NONO	PRNP
HP_HIGHLY_ELEVATED_CREATINE_KINASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGHLY_ELEVATED_CREATINE_KINASE	LAMA2	MT-CO3	DPM3	PYGM	MT-CO1	POPDC3	LPIN1	CRPPA	ANO5
HP_ABNORMALITY_OF_MUSCLE_SIZE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_MUSCLE_SIZE	LMNB2	TARDBP	SLC25A4	MYO9A	AGRN	ZEB2	TIMMDC1	PYROXD1	NALCN	B3GALNT2	MT-TE	TBCK	STUB1	CHCHD10	EXOSC3	SALL4	CDKN1C	GPC3	FBXO38	AGA	INF2	IL6ST	PMP22	DYSF	YARS2	ENTPD1	HSPG2	CHRNE	SPRTN	COL6A2	PDE8B	PIEZO2	TSHR	FBN2	ATXN1	EIF4H	JAG1	SELENON	MPZ	TGFB1	PNKP	NEFL	BIN1	RNASEH1	TPI1	IGHMBP2	FBLN5	MYF6	BBS5	TRIP4	TBCD	PEX7	GARS1	SLC39A13	LAMA2	PHKB	PFKM	ALS2	PTEN	C19orf12	COLQ	CEP290	CHP1	LRSAM1	BICD2	CEP19	ASAH1	ADK	GDAP1	TG	PLAGL1	ERLIN2	JPH1	EHMT1	BBS7	SDHD	TPM3	HYMAI	SQSTM1	TIA1	SNX14	RYR1	SH3TC2	FLNC	MT-ATP8	FUS	CDH23	SDHC	SGCG	MED13L	RTN2	ALG3	CAV3	KY	MTMR14	SMARCA4	FKRP	TNXB	HRAS	SYT2	TBK1	NIPA1	COL6A3	NDRG1	TRAPPC11	CPLANE1	PRKACA	LMOD3	FUCA1	MRE11	DCTN1	ARMC5	ATXN3	RAB7A	GBA2	GATA1	GNE	METTL27	ALDH18A1	AKT1	FTO	HBB	USF3	REEP1	MATR3	ERGIC1	COL12A1	FIG4	IDS	PIP5K1C	DNM2	RTL1	BAG3	CADM3	TRIM32	PRX	PIK3R2	POMGNT1	PNPLA6	INSR	LEMD3	ELN	GBE1	MAN2B1	FLRT1	DNMT3B	FKTN	MYPN	ATAD3A	SLC52A2	BMP1	NKX2-5	FKBP6	PON3	VAPB	KIF1A	DGUOK	DHH	HELLS	SNIP1	LMNA	STAC3	MKKS	RETREG1	SLC33A1	KCNK9	ERLIN1	POMK	MICU1	ZFYVE26	COL13A1	KLLN	NDUFA12	BUD23	PDK3	ALG6	DNAJC30	CLCN1	PUS1	CHRND	HSPB8	SMN2	SPTLC1	VPS13A	SIL1	KLHL41	ASCC1	VPS37D	SLC16A2	CRPPA	VWA1	C9orf72	SLC26A4	SLC25A21	MYOT	STIM1	HACD1	B4GALNT1	PHF6	FHL1	SPAST	TNR	ANXA11	EGR2	FLNA	CCNF	POMT2	ACTA1	PGAP1	TTN	KLHL40	TRPV4	PIK3CA	ANG	ITGA7	COG8	COL6A1	ATL1	PLXND1	HNRNPK	NUP88	AFF4	RPS6KA3	ATP6V1B2	SGCA	DPM3	UBQLN2	SVBP	MYOD1	PYCR2	AIFM1	TPM2	LITAF	RAI1	VCP	INPP5E	WASHC5	AIP	TSHB	AP1S2	DOK7	ZBTB24	SLC5A5	CYP7B1	CNTNAP1	SDHA	SCN4A	GLB1	LRP12	KBTBD13	KIF1C	NEB	TBX3	LDB3	HNRNPA2B1	RAPSN	SUCLG1	WARS2	NEFH	CHMP2B	PSMG2	IDUA	DES	ANO5	CYP27A1	SHOX	FKBP14	NEXMIF	SMPD1	LARGE1	CUL4B	EMD	PTRH2	POMT1	MCCC2	NDUFA9	SGCB	PFN1	ATXN2	ABCC8	LHX4	MME	CHAT	MED25	MAG	AGPAT2	MUSK	MFN2	MKS1	PAX8	PIGS	HNRNPA1	CHRNA1	MSTO1	CAPN3	GAN	TNNT1	TK2	SETBP1	EPHA4	PHKA2	MYL2	DUOXA2	BVES	BSCL2	GNAS	SYNE1	COQ2	CDCA7	COL2A1	TTC19	SOX10	PQBP1	CFAP410	TMEM43	PRPH	SETX	VLDLR	TAF15	TRAF3IP2	VAMP1	CEP126	UBE3A	KCNA1	SDHB	SPTBN4	CA8	LRP4	DNAJB2	KLC2	NOTCH2NLC	GMPPB	UBAP1	LZTFL1	VRK1	CAV1	MORC2	AMPD2	DMD	PRKAG2	BAZ1B	MEG3	ATM	SMCHD1	DUX4	SCAPER	INPP5K	CD59	FAM126A	RBM28	PON2	BBS10	DHTKD1	ERCC8	SOD1	GPR101	ATP6V0A2	NOP56	CTLA4	LTBP4	AMPD1	PDE11A	PPARG	WNK1	FOS	ERBB3	DUOX2	DCAF8	WDR81	SCYL1	HESX1	SCN9A	PRUNE1	GPR35	BBIP1	DLK1	MYH7	AARS1	BBS2	SCO2	KIF1B	SPG11	WDPCP	TFG	SGCD	TTC8	GAA	KCNQ1	ADSL	ABHD12	GPC4	NDUFA8	FUZ	MAP3K7	ERCC6	CCDC115	UNC13A	GRIA3	FITM2	AK9	TOE1	CLIP2	SMN1	MPV17	ARSI	GTF2IRD1	HNRNPDL	UNC45B	RBM8A	SPART	SACS	SMAD4	COA7	HARS1	ACADSB	OPA1	DAG1	GIPC1	KANSL1	DNM1L	PLEC	LAMP2	FXN	GTF2I	NCF1	KCNQ1OT1	MTMR2	ADSS1	NPPA	HINT1	KRT5	YY1	PRPS1	TCF4	SDCCAG8	PIGW	IFT27	PEX5	SLC25A1	MAP3K20	ATP7A	FIBP	ACTB	GLE1	MTRFR	CHRNG	IFT74	USP8	SYNE2	NEU1	RASA1	RRM2B	FOXE1	COLEC11	FOXG1	PHKG2	SBF2	FDX2	CAVIN1	SPTLC2	OGDH	SCN5A	SUCLA2	APTX	DARS2	TNFRSF1B	BCL7B	ARID1A	MYH3	AFG3L2	COL4A1	IYD	MDH2	CCT5	KCNN3	POMGNT2	CHRNB1	IFT140	NDE1	ATRX	AGL	FRG1	NKX2-1	NAGA	POU1F1	GYG1	DALRD3	FGD4	TDP1	HEXB	GBF1	ACADM	SIGMAR1	ABCA1	POLR2A	IBA57	SPEG	SLC46A1	YARS1	PON1	RFC2	MECP2	SLC25A46	PNPLA2	PLIN1	ATP8A2	MYMK	SLC5A7	CPT1C	TCAP	KRT14	EXOSC8	NEK1	GFPT1	REV3L	PLP1	ABCC9	ADARB1	PRKAR1A	POLG	PPARGC1A	KCNH1	VPS13D	PLOD3	CAPN1	LIPE	THRA	DVL1	LMX1B	PEX1	SEPTIN9	CFAP418	PHKA1	GJB1	B4GALT7	ARSB	MYBPC1	SURF1	HSPB1	DNA2	SDHAF1	NDUFAF6	WNT5A	ERBB4	KCNMA1	PHYH	SNRPN	CIDEC	TTPA	C2orf69	MLXIPL	ACTN2	SRY	STING1	ROR2	ALG8	MGME1	TREM2	IFRD1	IFT172	MYH14	FARS2	PNPT1	IGF2	LIMS2	LIMK1	OPTN	TYMP	VPS33A	GNPTAB	PSMB8	RXYLT1	HMGA2	PROP1	BBS9	POP1	KLHL9	MT-TL1	POPDC3	AR	WRN	SNAP25	PAX7	TBCE	MSTN	KAT6A	KCNJ11	NEMF	PEX10	HUWE1	RNF125	SLC12A6	MINPP1	HK1	LAMB2	LHX3	DYNC1H1	VMA21	CPT1A	PLEKHG5	NBN	TBC1D23	POLR3A	GUSB	SLC7A7	COL7A1	DAO	ANTXR2	TBL2	ZFP57	PEX6	CIZ1	MAFB	TUBB2B	FAM111B	CHN1	SEC23B	SMARCB1	BBS12	FBXL4	CCDC47	TMEM270	BBS4	ZC4H2	BBS1	SEMA4D	ATL3	KIF5A	PIK3C2A	KDM5C	GLT8D1	ZBTB20	STX1A	NDUFS4	COASY	CD28	SFXN4	SLC18A3	HS2ST1	PYGM	SLC25A19	SLC9A6	NGLY1	GTF2IRD2	FLVCR1	ARL6	UBA1	MST1	TPO	B4GAT1	IPO8	AGTPBP1	CTNS	HSPB3	JAG2	CARS1	TBX5	NPHP1	COG7	ALG9	COMP	SLC52A3	MTAP	DNAJC19	NARS2	DHX16	TRMU
HP_HAND_MUSCLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAND_MUSCLE_WEAKNESS	CHRND	POLG	TIA1	LAMB2	LMNA	CADM3	FLNC	SBF2	GARS1	SQSTM1	DYSF	DOK7	MUSK	CHRNE	PMP22	AGRN	NEB	LRP4	CHRNA1	GDAP1	BSCL2	DCTN1	PNPLA2	MORC2	CHRNB1	SCN4A	LDB3	MYH7	PDK3	MFN2	HARS1	REEP1	AK9	GNE	NEFL	COLQ	RAPSN	GJB1	TK2	HINT1	BICD2	COL13A1
HP_PORTAL_VEIN_THROMBOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PORTAL_VEIN_THROMBOSIS	JAK2	MPL	KCNN4	MET	NOTCH1	PIEZO1	CTNNB1	SLC4A1	PIGM	TET2	SERPINC1
HP_SPLANCHNIC_VEIN_THROMBOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPLANCHNIC_VEIN_THROMBOSIS	CTRC	EPAS1	MPL	CASR	KCNN4	NOTCH1	PRSS1	CTNNB1	PIGM	PRSS2	TET2	CD55	JAK2	CPA1	SPINK1	MET	PIEZO1	PIGA	SLC4A1	SERPINC1	CFTR
HP_DEFECTIVE_T_CELL_PROLIFERATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEFECTIVE_T_CELL_PROLIFERATION	CD3E	RASGRP1	TGFB1	WIPF1	CTPS1	MRTFA
HP_LARGE_INTESTINAL_POLYPOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_INTESTINAL_POLYPOSIS	APC	SEC23B	BMPR1A	SDHD	DICER1	POLE	PIK3CA	SMAD4	MUTYH	FLCN	RNF43	PTEN	ENG	CHEK2	POLD1	KEAP1	SDHC	SDHB	PMS2	MDM2	NTHL1	AKT1	KLLN	AXIN2	MSH3	MLH1	USF3	CDKN2A	TP53	GREM1
HP_MICROPHALLUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROPHALLUS	TACR3	TOE1	HMGA2	SIN3A	GATA4	RTTN	CILK1	THOC2	IGF2	OPHN1	CDKN1C	SAMD9	TRRAP	MINPP1	FANCF	PLAG1
HP_HYPERPLASTIC_CALLUS_FORMATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPLASTIC_CALLUS_FORMATION	KRT17	IFITM5	KRT16	KRT6A	KRT6B
HP_INCREASED_SERUM_INSULIN_LIKE_GROWTH_FACTOR_1	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_SERUM_INSULIN_LIKE_GROWTH_FACTOR_1	MEN1	AIP	IGF1R	PRKAR1A	GPR101
HP_ABNORMAL_ERYTHROCYTE_ENZYME_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ERYTHROCYTE_ENZYME_LEVEL	RPL31	PKLR	VPS13A	RPL15	RPS28	PHKA2	RPS24	KHK	GATA1	RPS15A	RPL35	RPS29	RPS20	RPS19	ALAD	TSR2	ADA2	RPL11	RPL5	PRPS1	RPL27	GALT	RPL26	RPS27	RPL35A	RPS10	RPL18	ADA	PIGA	PHKG2	RPS17	RPS7	RPS26
HP_FLATTENED_FEMORAL_EPIPHYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLATTENED_FEMORAL_EPIPHYSIS	SLC26A2	TRPV4	ACAN	KIF22	TRPS1	TBX4	COL9A1	GNPTG	TONSL	COL2A1	CCN6	UFSP2	SLC39A13
HP_LOWER_LIMB_METAPHYSEAL_IRREGULARITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_LIMB_METAPHYSEAL_IRREGULARITY	KIAA0586	COL10A1	CSPP1	RSPRY1	RPL13	SRP54	TRPV4	CFAP410	DNAJC21	SBDS
HP_UPPER_EXTREMITY_JOINT_DISLOCATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_EXTREMITY_JOINT_DISLOCATION	ORC1	AFF3	EXOC6B	NEDD4L	HDAC8	ORC4	CDC6	FLNB	RAD21	XYLT1	EXTL3	DONSON	NOG	NIPBL	ASXL1	APC	GMNN	HSPG2	ROR2	NGLY1	GDF5	GPC6	PRKAR1A	B3GAT3	BMP1	CHST3	KIF22	COL1A1	BRD4	CANT1	FZD2	SCARF2	DVL3	ERMARD	MACROH2A1	ATR	SRCAP	CHRNG	SHOX	NOTCH2	COL1A2	COL5A2	SLC26A2	SMC3	CD96	B4GALT7	AEBP1	WNT5A	RNU4ATAC	FBN1	SKI	B3GALT6	ARFGEF2	CLCN3	FLNA	TBX15	TMTC3	SMOC1	SLC39A13	COL5A1	EP300	LMX1B	MAP3K7	GSC	IFITM5	PITX1	ERCC1	ARID1B	MAP1B	NXN	COL27A1	CDT1	CREBBP	ARF1	DVL1	CDC45	SMC1A	LRP4	ORC6
HP_LOWER_EXTREMITY_JOINT_DISLOCATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_EXTREMITY_JOINT_DISLOCATION	ELN	COMT	EXOC6B	COLEC10	PRKACB	MYO9A	AGRN	ALDH18A1	RAD51	XYLT1	EXOSC3	HK1	COL1A2	COL6A1	SHH	RBM8A	IL6ST	GTF2I	KLHL41	FANCC	NCF1	EBP	COL6A2	TGIF1	FBN2	EIF4H	TOR1A	FANCF	ERCC4	TTC26	FANCD2	SLC25A1	FBLN5	CANT1	ZMPSTE24	CDON	CHRNG	KANSL1	FOXH1	TBCD	FGF8	FGFR1	BICD2	COLEC11	FANCL	LMNA	LTBP1	ARNT2	COL5A2	SLC6A9	LARGE1	TDGF1	HOXA11	SMC3	CHST3	ITGA7	RYR1	FUT8	AEBP1	LMOD3	ATP6V1A	MAD2L2	SLC10A7	FANCA	STIL	BCL7B	CLCN3	WNT7A	SIX3	KDM6A	COL6A3	SMOC1	ECEL1	MYH7	CD96	PTCH1	HACE1	GJA1	FLNA	ZIC2	TONSL	TELO2	MAP3K20	OBSL1	DISP1	FBLN1	POMT1	METTL27	RNU4ATAC	DHCR7	NSD2	CREBBP	ACTA1	PTRH2	FANCB	DVL1	SNRPB	AKT1	ALG9	FANCI	SMC1A	FIG4	ERGIC1	PKDCC	GPC3	SLC35A3	PLOD1	EFEMP2	NEDD4L	COL1A1	LONP1	RAD21	CHRM3	GLI3	TMEM251	USP9X	TBX1	SIL1	DHODH	RFC2	IARS2	NGLY1	COL2A1	UBE3B	MYH8	KIF22	ATAD1	TPM2	FKBP6	BRD4	SLC5A7	PIGL	SLC26A2	ATR	SELENON	GAS1	COL13A1	BUD23	MKKS	RAD51C	FANCE	DNAJC30	SLC2A10	FLNB	GLRA1	DLL1	FLI1	NODAL	CLTCL1	SOX9	VPS37D	THRA	WNT5A	CFL2	KAT6B	EP300	LMX1B	HACD1	ADAMTS2	MASP1	OSGEP	CCDC8	TMTC3	DSTYK	TFE3	EIF2AK3	GPHN	PYCR1	ERCC1	IFIH1	ATP6V0A2	BRCA2	XRCC2	FZD2	GP1BB	YWHAE	BRCA1	LRP4	PYCR2	OCRL	GNPTAB	FKRP	MLXIPL	HDAC8	TRIM8	MCTP2	SLC6A5	APC	EIF4A3	CTBP1	STAG2	MBTPS2	LIMK1	COL12A1	VAC14	PUF60	KMT2D	ZNF469	HSPG2	GLRB	ARVCF	TPM3	PPP2R5D	GLI2	SNAP25	NOTCH2	UFD1	GORAB	BPNT2	SYT2	HIRA	PALB2	POMT2	CHAT	FHL1	TBX15	B3GALT6	ARFGEF2	FANCG	EYA1	CUL7	MAP3K7	GDF5	STXBP1	GSC	MYL2	PORCN	SEC24C	TBL2	NEB	PAFAH1B1	ARF1	NSDHL	SLC12A2	MYH3	FANCM	AFF3	CPLX1	FGFRL1	NIPBL	CCDC47	TMEM270	BRIP1	VAMP1	RECQL4	GMPPB	B3GAT3	OFD1	SLX4	STX1A	DNAJC21	DVL3	AARS1	ERMARD	BAZ1B	COL3A1	SMO	SLC18A3	CHST11	INPP5K	ADAMTSL2	UBE2A	TNNT3	SHROOM4	JMJD1C	COX8A	GTF2IRD2	SIX1	UBE2T	LETM1	ATP6V1E1	TBX4	ATP7A	GEMIN4	C12orf57	PTEN	SEC31A	IPO8	GPC4	COL5A1	ZC4H2	SF3B4	RFWD3	DPYSL5	MAP1B	RREB1	CLIP2	PIEZO2	GTF2IRD1	NFIX
HP_ABNORMAL_PERIOSTEUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PERIOSTEUM_MORPHOLOGY	SLCO2A1	GALNT3	COL1A1	IL1RN	KL
HP_ANGULAR_CHEILITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANGULAR_CHEILITIS	KRT17	GJB6	AMN	CAST	SREBF1	CUBN	KRT16	DSC3	KRT6A	GJB2	KRT6B
HP_WEAKNESS_OF_FACIAL_MUSCULATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WEAKNESS_OF_FACIAL_MUSCULATURE	LMOD3	FKRP	TTN	SUPT16H	TPM2	POLG	MYO9A	AGRN	OPA1	MT-TE	LRP4	CLCN4	MYL2	GIPC1	PEX1	HK1	VCP	COL6A1	DNM1L	FRG1	RRM2B	MGME1	TCIRG1	SRPX2	KLHL41	DOK7	DES	TRIM32	ZNF41	CHRNE	COL6A2	ALG2	MTMR2	SLC19A3	ADSS1	GDI1	BTNL2	LARGE1	CNTNAP1	ACTA1	ANKH	FTSJ1	RYR1	CLCN7	GSN	TFAP2A	LRP12	MPZ	ABCA1	TGFB1	KBTBD13	AMER1	ADCY6	BAP1	MYPN	SYT2	SUCLA2	SLC25A4	BIN1	SLC25A1	SCN4A	MSTO1	NEB	RNASEH1	MYH7	EYA1	TWNK	ITGB4	SMARCE1	MTRFR	SIX1	NF2	TPM3	SLC5A7	EBF3	ANO5	BMS1	SEMA3E	NEFL	COLQ	TRAF7	CHD7	SLC9A7	SNAP25	SMO	ASAH1	SALL4	LRP5	LAMA2	TREX1	PTRH2	TK2	MYL1	SLC12A6	CNKSR2	COL13A1	PEX5	AKT1	CHRND	GLE1	SLC52A3	LRIF1	MTM1	ITGA7	LAMB2	SH3TC2	FLNC	SBF2	COX6A2	PLEC	POMT2	CHAT	SLC18A3	GFPT1	DMD	ARHGEF6	IRF2BPL	MUSK	SLC39A14	KY	MTMR14	IQSEC2	CRYAB	SURF1	ACSL4	SMARCB1	COL6A3	MYMK	CHRNA1	NOTCH2NLC	GAN	POMT1	GJA1	GDAP1	CAPN3	GJC2	SYP	SELENON	CACNA1A	ADA2	SUFU	SOST	CHRNB1	PEX2	SQSTM1	ZNF711	POLG2	TSPAN7	MAP3K20	COL12A1	SCN1A	GNE	MED12	HOXB1	RAPSN	TERT	PDGFB	PRRT2	USP9X	PEX16	ALG14	PIK3CA	DMPK	CHKB	CRPPA	IL1RAPL1	SNX10	BAG3	CADM3	PEX11B	ACTN2	SPEG	PABPN1	TUBB6	VAMP1	MEGF10	FKTN	SPTBN4	PEX12	GMPPB	SLC52A2	DCTN1	DLG3	CHCHD10	BICRA	MID2	DNM2	SMCHD1	ACADS	PUF60	DLL4	KLHL40	DNAJB6	PEX6	FRMPD4	ARX	ALG13	RAB39B	PI4KA	REV3L	DPAGT1	STEEP1	ATP1A2	MT-TN	CLCF1	SLC25A42	SYNE1	COL4A1	AGTR2	UBA1	PEX14	NOD2	CRLF1	CFL2	YME1L1	PEX10	PEX3	SCO2	SLC25A21	NUTM2B-AS1	PTDSS1	HACD1	UPF3B	SGCD	ZFHX4	RPS6KA3	PEX26	ZC4H2	TRPV4	PEX13	PEX19	ADGRG1	SHMT2	JAG2	DNA2	PTCHD1	TUBB3	YARS1	COL25A1	USP27X	AK9	PLXND1	ZNF81	TNFSF11	PAK3	MECP2	HLA-DRB1	NARS2	SIX5	HCFC1	DNMT3B
HP_INCREASED_INTERVERTEBRAL_SPACE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_INTERVERTEBRAL_SPACE	PLCB3	TRPV4	SLC26A2	EXTL3	ACP5
HP_RETINAL_THINNING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_THINNING	ALDH3A2	GRK1	POMGNT1	KIF3B	ELOVL4	CACNA2D4	PDE6B	SLC24A1	RHO	HLA-A	CYP4V2	GRM6	ABCA4	GNAT1	GNB3	SAG	CFAP418	PROM1	LAMA1	CACNA1F	PRPH2	CNGB3	COL2A1	PCYT1A	SLC6A6	RIMS2	LRIT3	TRPM1	NYX	CABP4	GPR179
HP_ABNORMAL_CIRCULATING_GONADOTROPIN_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_GONADOTROPIN_CONCENTRATION	FSHR	FANCM	AR	SRY	BMP15	SPIDR	STAG3	HSD17B4	VAMP7	PNPLA6	ZFPM2	NR0B1	CPE	GATA4	SOX9	SNRPN	BNC1	POLR3H	MAP3K1	FOXL2	NDN	C14orf39	LHCGR	NR5A1	DHX37	BAP1	OCA2	MEIOB	PROP1	FGD1	CDH23	NANOS1	TEX15	SMARCE1	ERCC6	FIGLA	NF2	LARS2	DHH	SOHLH1	XRCC2	FAM111A	TRAF7	POLA1	WT1	SMO	DMXL2	WWOX	CYP11A1	SYCP3	AKT1	GDF9	ZMYND15	LHB	CNBP	CYP17A1	GNRH1	ESR2	DMRT3	LHX4	LHX3	CFTR	HESX1	PPP2R3C	SMARCB1	ANOS1	TEX14	TDRD9	NSMCE2	SUFU	KLHL10	MAGEL2	MCM8	PSMC3IP	POR	CYB5A	CBX2	NUP107	KISS1R	TAF4B	POU1F1	ESR1	TERT	TEX11	PDGFB	HFM1	SYCE1	MRPS22	PNLDC1	FMR1	LGR4	PIK3CA
HP_DECREASED_CIRCULATING_GONADOTROPIN_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_GONADOTROPIN_CONCENTRATION	LHB	PROP1	SUFU	MAGEL2	NDN	GNRH1	OCA2	LHX4	SMARCE1	LHX3	NF2	SNRPN	PNPLA6	HESX1	CPE	BAP1	POU1F1	TRAF7	TERT	PDGFB	SMO	DMXL2	SMARCB1	ANOS1	AKT1	LGR4	PIK3CA
HP_DECREASED_CIRCULATING_FOLLICLE_STIMULATING_HORMONE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_FOLLICLE_STIMULATING_HORMONE_CONCENTRATION	PROP1	TRAF7	TERT	SUFU	PDGFB	SMO	DMXL2	LHX4	SMARCE1	LHX3	SMARCB1	NF2	ANOS1	HESX1	CPE	AKT1	BAP1	LGR4	POU1F1	PIK3CA
HP_ABNORMAL_CIRCULATING_FOLLICLE_STIMULATING_HORMONE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_FOLLICLE_STIMULATING_HORMONE_CONCENTRATION	CNBP	CYP11A1	CYP17A1	ESR2	SPIDR	DMRT3	LHX4	FANCM	LHX3	VAMP7	ZFPM2	SRY	NR0B1	HESX1	CPE	GATA4	SOX9	PPP2R3C	BNC1	MAP3K1	FOXL2	SMARCB1	C14orf39	ANOS1	NR5A1	AR	DHX37	BAP1	PROP1	FGD1	NSMCE2	SUFU	MCM8	POR	CYB5A	CBX2	SMARCE1	ERCC6	FIGLA	NF2	KISS1R	POU1F1	XRCC2	FAM111A	TRAF7	TERT	WT1	PDGFB	SMO	DMXL2	WWOX	AKT1	GDF9	LGR4	PIK3CA
HP_ABNORMAL_CIRCULATING_ANDROGEN_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_ANDROGEN_LEVEL	LHB	FSHR	TP53	GNRHR	SLC39A4	PROK2	CYP11A1	CYP17A1	AR	SRY	GNRH1	TACR3	KISS1R	DMRT3	VAMP7	FGF17	ZFPM2	NR0B1	TXNRD2	CPE	LEPR	LEP	GNAS	NNT	GATA4	SOX9	MAP3K1	CYP11B1	B4GALNT1	DCAF17	SPRY4	SMARCB1	STAR	FSHB	ALMS1	NR5A1	WNT4	POLR3A	DHX37	BAP1	FGD1	KISS1	TAC3	SUFU	INSR	HFE	NSMF	POR	CYB5A	NR2F2	SMARCE1	NF2	HSD3B2	DHH	NFKB2	PROKR2	CHD7	FGF8	TRAF7	MC2R	TERT	RBM28	POLA1	WDR11	WT1	PDGFB	SMO	DMXL2	WWOX	HS6ST1	NR3C1	FGFR1	NDNF	MRAP	ALG6	AKT1	DUSP6	LGR4	PIK3CA
HP_INCREASED_CIRCULATING_ANDROGEN_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_ANDROGEN_CONCENTRATION	FSHR	TP53	INSR	AR	CYP11B1	NR2F2	HSD3B2	ALMS1	ALG6	WNT4	POLR3A	GNAS
HP_DECREASED_CIRCULATING_ANDROGEN_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_ANDROGEN_CONCENTRATION	LHB	GNRHR	SLC39A4	PROK2	CYP11A1	CYP17A1	SRY	GNRH1	TACR3	KISS1R	DMRT3	VAMP7	FGF17	ZFPM2	NR0B1	CPE	LEPR	LEP	GATA4	SOX9	MAP3K1	B4GALNT1	DCAF17	SPRY4	SMARCB1	FSHB	NR5A1	DHX37	BAP1	FGD1	KISS1	TAC3	SUFU	HFE	NSMF	POR	CYB5A	SMARCE1	NF2	HSD3B2	DHH	NFKB2	PROKR2	CHD7	FGF8	TRAF7	TERT	RBM28	POLA1	WDR11	WT1	PDGFB	SMO	DMXL2	WWOX	HS6ST1	FGFR1	NDNF	AKT1	DUSP6	LGR4	PIK3CA
HP_ERYTHEMATOUS_PAPULE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERYTHEMATOUS_PAPULE	PSENEN	KRT14	COL7A1	HAVCR2	MEFV	POGLUT1	KIT	POFUT1	KRT5
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	MEN1	SOX3	GHRHR	ALG12	MPDU1	ADAT3	GHSR	DCAF17	SMPD1	PRKAR1A	NFKB2	PGM1	MCTP2	STAT5B	RBM28	IGF1R	GPR101	CTSK	GALT	GHR	IGFALS	AIP	KIAA0753	MED12
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	SOX3	GHRHR	RBM28	ALG12	MPDU1	CTSK	ADAT3	GALT	GHR	IGFALS	GHSR	KIAA0753	DCAF17	SMPD1	MED12	NFKB2	PGM1	MCTP2	STAT5B
HP_ABNORMAL_SERUM_INTERFERON_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SERUM_INTERFERON_LEVEL	STAT4	STX11	IL2RA	RNASEH2B	ANKRD55	RNASEH2A	STAT1	UNC13D	PTPN22	PTPN2	TREX1	POLA1	RNASEH2C	IL2RB	PRF1	STXBP2	ADAR	PSMB8	CD247	IFIH1	SP110	SAMHD1
HP_NON_SMALL_CELL_LUNG_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NON_SMALL_CELL_LUNG_CARCINOMA	KRAS	TP53	CASP8	FASLG	NDUFAF6	EGFR	PRKN	ERCC6	SLC22A18	ERBB2	BAP1	BRAF	SPRED1	IRF1	MAP3K8	CYP2A6	PIK3CA	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	REL	IRF2BP2	ICOS	CD19	HYOU1	PIK3CD	LRBA	PRKCD	TET2	LCP2	IL6R	SOCS1	IL21
HP_SPOKEN_WORD_RECOGNITION_DEFICIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPOKEN_WORD_RECOGNITION_DEFICIT	TREM2	TMEM106B	MAPT	GRN	GRIN2A	HSD17B10	CHMP2B	PSEN1	VCP	C9orf72
HP_CHOROID_PLEXUS_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOROID_PLEXUS_CARCINOMA	SMARCB1	MDM2	CHEK2	CDKN2A	TP53
HP_ABNORMAL_PLATELET_AGGREGATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PLATELET_AGGREGATION	THPO	IKZF5	VWF	BLOC1S3	DTNBP1	NBEAL2	ITGB3	ITGA2B	P2RY12	RASGRP2	GP1BB	CALR	MGAT2	KCNJ1	FLI1	CISD2	GUCY1A1	RUNX1	GATA1	BLOC1S5	GP9	AP3B1	TBXA2R	PLA2G4A	SH2B3	ABCG8	EPHB2	PLAU	GP1BA	HPS6	LCP2
HP_GLUCAGONOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLUCAGONOMA	CDKN2B	CDKN1B	GCGR	CDKN2C	CDKN1A	MEN1
HP_PANCREATIC_ENDOCRINE_TUMOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATIC_ENDOCRINE_TUMOR	MAFA	KCNJ11	GCGR	CDKN2C	CDKN1B	VHL	MEN1	TSC1	CDKN2B	CDKN1A	TSC2
HP_PRIMARY_PERITONEAL_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRIMARY_PERITONEAL_CARCINOMA	CHEK2	RAD51	TP53	BRCA2	PALB2	RAD51D	RAD51C	NBN	RAD50	PTEN	MRE11	BRIP1	BRCA1	BARD1
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	PDCD10	NF2	KRIT1	CCM2	NF1
HP_OSTEOCHONDROMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOCHONDROMA	SOX6	COL2A1	EXT2	FGFR3	EXT1	GLI3
HP_PILOMATRIXOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PILOMATRIXOMA	APC	CTNNB1	DICER1	KEAP1	CREBBP	EP300
HP_PULMONARY_CARCINOID_TUMOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_CARCINOID_TUMOR	CDKN2B	LMNA	CDKN1B	SDHD	CDKN2C	CDKN1A	MEN1	DAXX	ATRX
HP_SOFT_TISSUE_SARCOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SOFT_TISSUE_SARCOMA	HRAS	ABCA5	FASLG	NRAS	APC	SEC23B	CDC73	PIK3CA	SUFU	MEN1	DICER1	TLR2	KIT	CDKN2B	LRP1	AKT1	BRAF	KRAS	KEAP1	FH	FOXO1	PRKCD	BAX	SLC22A18	FOXC2	KCNH1	COL4A6	SOS1	PDE8B	GJC2	RASGRP1	NF1	TSC2	SPRED1	SSX2	MLH1	ANTXR2	PAX3	CDKN1A	ASPSCR1	BAP1	PTPRJ	BUB1B	PRLR	COL1A1	REST	MLH3	TP53	MC1R	BUB1	FAM20C	SMARCE1	TSC1	MSH6	NF2	MCC	CDKN1B	FLNA	CHEK2	RSPRY1	CASP10	PLA2G2A	PLCD1	COL4A5	DCC	TRAF7	NOTCH3	SMO	FLCN	KLLN	PAX7	BMPR1A	PTCH2	EP300	DHCR24	ELMO2	SDHC	CCND1	PDGFRL	AURKA	PRKAR1A	PDGFB	SDHD	FLT4	PDE11A	PDGFRB	FAS	CTNNB1	MSH2	PTEN	PTPN12	NBN	PTPN11	SSX1	AXIN2	PTCH1	MAP2K1	RAD54B	SPTBN1	SMARCB1	KCNN3	CDKN2A	PRKACA	TRIP13	DLC1	IFNG	SRC	SDHB	TERT	MDM2	BUB3	CDKN2C	KRT17	FGFR3	ATP6V1B2	CEP57	MTAP	USF3	GREM1
HP_ABNORMAL_VISUAL_ELECTROPHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VISUAL_ELECTROPHYSIOLOGY	TIMP3	MOGS	PROM1	RPE65	SAG	GNAT2	PDE6B	USH2A	PRPF3	LCA5	CNGB3	IFT140	LRAT	KIZ	TRPM1	RLBP1	IFT172	NEK2	PEX12	CEP290	PRPS1	PLA2G6	TIMM8A	NR2E3	RP2	POLG	LARGE1	CRX	PSAP	RP1	PCYT1A	AGK	NYX	IMPG1	SDCCAG8	IMPDH1	NUP62	HSD17B4	BBS9	BEST1	IFT27	ELOVL4	RHO	BBS5	RDH12	GALC	VSX1	MT-ATP6	CYP27A1	OPN1SW	IFT74	CFAP418	ABCA4	CAPN5	RS1	POMGNT1	AHR	CACNA1F	CEP19	TKFC	GNB5	TULP1	LAMA2	MYO7A	SLC7A14	PCARE	ADGRV1	TPP1	ZNF699	REEP6	MFN2	GRK1	AIPL1	BBS7	IFT88	IDH3B	MCOLN1	ATXN1	FAM161A	RPGRIP1	GUCY2D	HGSNAT	ERCC8	PDE6A	SUCLA2	TLCD3B	KLHL7	DHX38	TBC1D20	CLCN7	MKS1	ROM1	SPATA7	TTC8	KIF3B	FXN	TNFSF11	CACNA2D4	PRPF6	COQ2	ATXN3	SLC24A1	OPA1	HARS1	NRL	NOTCH3	RAB18	IDH3A	GJC2	GNB3	MFRP	RPGR	BBS2	RDH5	PRPH2	ARL6	CLCC1	USH1C	TOPORS	SNRNP200	NDRG1	GUCA1B	CHM	CABP4	ARSG	CNGB1	IDS	ALG3	CERKL	POGZ	RP1L1	TRIM32	SLC25A4	USP45	GDF6	BBS12	ZNF408	CA4	WWOX	RAB3GAP1	COX6B1	CLN3	CRB1	WHRN	BBS4	PDE6G	BBS1	RAB3GAP2	NMNAT1	ARSA	PNPLA6	EYS	OPN1MW	PRCD	CLN5	RD3	LZTFL1	RBP3	RP9	CLN8	PPT1	NDUFS4	IMPG2	RGR	MAK	AGBL5	KIAA1549	CDHR1	HADHA	GRM6	MKKS	GNAT1	ADAR	ARL3	SCAPER	ERCC6	CNGA1	MERTK	BBS10	OFD1	OPN1LW	PDE6H	CEP78	PDE6C	PRPF8	GUCA1A	ARHGEF2	MFF	ZNHIT3	MPDU1	SNX10	CIB2	ARHGEF18	ZNF513	FLVCR1	KCNJ13	CLRN1	CYP4V2	TCIRG1	BBIP1	FSCN2	TUB	DHDDS	ARL2BP	EMC1	PEX1	CEP104	SPG11	WDPCP	MT-TS2	CNGA3	ATF6	USH1G	CDH23	RDH11	PIEZO2	ESPN	AAAS	IQCB1	ACOX1	TYR	PRPF4	AHI1	PDE6D	PCDH15	SLC25A22	NPHP1	RNF216	SSBP1	SEMA4A	PDSS2	PDZD7	LRIT3	PRPF31	TTPA	CWC27	GPR179
HP_ABNORMAL_FULL_FIELD_ELECTRORETINOGRAM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FULL_FIELD_ELECTRORETINOGRAM	CABP4	GRK1	IDS	MCOLN1	ALG3	SAG	RPGRIP1	PDE6B	GNAT2	ZNF513	POMGNT1	CLRN1	CNGB3	CYP4V2	LRAT	NR2E3	CACNA2D4	RPE65	LARGE1	IDH3B	IMPDH1	BEST1	GUCY2D	CNGA3	CERKL	ATF6	TRPM1	NYX	NUP62	RP9	TTC8	CACNA1F	KIF3B	PRPH2	PPT1	USP45	ACOX1	SLC24A1	RHO	RP1	RLBP1	GRM6	MT-ATP6	GNAT1	GNB3	ADAR	OPN1SW	MFRP	CFAP418	ABCA4	RPGR	RDH5	RGR	PCYT1A	RS1	PROM1	PDE6H	LRIT3	PDE6C	AIPL1	GPR179
HP_ABNORMAL_DARK_ADAPTED_ELECTRORETINOGRAM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DARK_ADAPTED_ELECTRORETINOGRAM	CABP4	ABCA4	GRK1	CACNA2D4	CACNA1F	PDE6B	SAG	SLC24A1	RHO	RS1	LRIT3	RLBP1	GRM6	TRPM1	GNAT1	NYX	GNB3	CFAP418	GPR179
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	GRK1	CACNA1F	CACNA2D4	PDE6B	SLC24A1	RHO	LRIT3	GRM6	TRPM1	GNAT1	NYX	GNB3	SAG	CABP4	CFAP418	GPR179
HP_CHORIOCAPILLARIS_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHORIOCAPILLARIS_ATROPHY	GUCY2D	CRB1	PRPH2	GUCA1A	CYP4V2	TIMP3	ACVRL1
HP_ABNORMALITY_OF_FOVEAL_PIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FOVEAL_PIGMENTATION	CFHR3	CFHR1	HMCN1	CTNNA1	APOE	IMPG1	RAB28	SLC38A8
HP_MACULAR_THICKENING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_THICKENING	ARHGEF18	POMGNT1	RP9	NR2E3	PRPH2	VHL	C1QTNF5	TSPAN12	NDP	PRPF8	NF2	TRNT1	IDH3A	PDE6G	HLA-A	REEP6	CYP4V2	CTNNB1	RHO	MFRP	NRL	ARL3	APC	PRPF31	RDH5	RLBP1	FZD4	TREX1	RP1L1	KIAA1549	ZNF408	NOD2	LRP5	DHDDS
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	PRPH2	PROM1	CFI	ELOVL4	TIMP3	CNGB3	CFHR3	CFHR1	BEST1	EFEMP1	HMCN1	CFH	ABCA4	APOE
HP_RETINOSCHISIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINOSCHISIS	RS1	ACTB	NR2E3	ACTG1	MFRP
HP_YELLOW_WHITE_LESIONS_OF_THE_RETINA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_YELLOW_WHITE_LESIONS_OF_THE_RETINA	PRPH2	FAM111A	AGXT	RB1	LRP5	LCA5	GUCA1A	APOE	RHO	CFI	RLBP1	PROM1	CNGB3	TREX1	ABCC6	CFHR1	BEST1	XYLT1	RDH5	LRAT	CTC1	ALMS1	EFEMP1	ESPN	IMPG1	IMPG2	TMEM98	CFH	C1QTNF5	ELOVL4	XYLT2	TIMP3	CFHR3	FBLN5	HMCN1	TINF2	ABCA4	MFRP	SPATA7	NEU1	TSPAN12	RPE65	NDP	ZFYVE26	GUCY2D	IFT172	FZD4	CTNNA1	KCNJ13
HP_MODERATELY_REDUCED_VISUAL_ACUITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MODERATELY_REDUCED_VISUAL_ACUITY	IMPG2	RAC1	DNM1L	OPA1	LRP5	IMPG1
HP_HETERONYMOUS_HEMIANOPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HETERONYMOUS_HEMIANOPIA	CDH23	TRAF7	TERT	SUFU	PDGFB	SMO	MEN1	SMARCE1	SMARCB1	NF2	AIP	CTNNB1	AKT1	BAP1	BRAF	PIK3CA
HP_PARACENTRAL_SCOTOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PARACENTRAL_SCOTOMA	CYP4V2	CFI	EFEMP1	RLBP1	HKDC1	CFH	ACO2
HP_VISUAL_ACUITY_TEST_ABNORMALITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VISUAL_ACUITY_TEST_ABNORMALITY	POU3F4	TRAF7	TERT	SUFU	APC	PDGFB	SMO	C1QTNF5	SMARCE1	TUBB3	SMARCB1	NF2	AKT1	BAP1	LRP5	PAX6	PIK3CA
HP_COLOR_VISION_TEST_ABNORMALITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COLOR_VISION_TEST_ABNORMALITY	GNAT2	PDE6H	CNGA3	AFG3L2	PDE6C	RPGR	CNGB3	ATF6	FA2H	OPN1SW
HP_ABNORMAL_VISUAL_FIELD_TEST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VISUAL_FIELD_TEST	TRAF7	TERT	SUFU	CDH23	PDGFB	SMO	SMARCE1	MT-ATP6	SMARCB1	NF2	CTNNB1	AKT1	BAP1	BRAF	PIK3CA
HP_ABNORMAL_POSTERIOR_SEGMENT_IMAGING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_POSTERIOR_SEGMENT_IMAGING	AIRE	POMGNT1	KIF3B	PRPH2	CFI	PROM1	SELENOI	TIMP3	ARSG	CCDC28B	GNAT2	TRNT1	IDH3A	HLA-A	RLBP1	GUCA1A	CNGB3	ARL6	CFH	TLCD3B	CFAP418	RPGR	PRPF31	CLCC1	SLC24A5	KIAA1549	PMM2	SLC6A6	PDE6H	GUCY2D	CNGA3	BBS1	EFEMP1	IFT172	PDE6C	ATF6	CWC27
HP_ABNORMAL_FUNDUS_AUTOFLUORESCENCE_IMAGING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FUNDUS_AUTOFLUORESCENCE_IMAGING	AIRE	POMGNT1	KIF3B	RPGR	PRPH2	CFI	PRPF31	PROM1	TIMP3	ARSG	CCDC28B	KIAA1549	IDH3A	GUCY2D	BBS1	EFEMP1	IFT172	GUCA1A	ARL6	CWC27	CFH	TLCD3B	CFAP418
HP_ABNORMAL_OPTICAL_COHERENCE_TOMOGRAPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_OPTICAL_COHERENCE_TOMOGRAPHY	PRPH2	RPGR	SELENOI	TIMP3	CLCC1	SLC24A5	GNAT2	PMM2	SLC6A6	TRNT1	PDE6H	GUCY2D	CNGA3	HLA-A	RLBP1	GUCA1A	PDE6C	CNGB3	ATF6
HP_PHOTORECEPTOR_LAYER_LOSS_ON_MACULAR_OCT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHOTORECEPTOR_LAYER_LOSS_ON_MACULAR_OCT	PMM2	SLC6A6	TRNT1	HLA-A	CLCC1
HP_ABNORMAL_FOVEAL_MORPHOLOGY_ON_MACULAR_OCT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FOVEAL_MORPHOLOGY_ON_MACULAR_OCT	PRPH2	GUCY2D	RLBP1	GUCA1A	SLC24A5
HP_PERIFOVEAL_RING_OF_HYPERAUTOFLUORESCENCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIFOVEAL_RING_OF_HYPERAUTOFLUORESCENCE	AIRE	PRPH2	GUCY2D	CFI	EFEMP1	IFT172	PRPF31	PROM1	GUCA1A	CFH	TLCD3B
HP_HYPERAUTOFLUORESCENT_MACULAR_LESION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERAUTOFLUORESCENT_MACULAR_LESION	POMGNT1	PRPH2	CFI	ARSG	CCDC28B	GUCY2D	BBS1	EFEMP1	GUCA1A	ARL6	CFH	TLCD3B	CFAP418
HP_RETINAL_NEOVASCULARIZATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RETINAL_NEOVASCULARIZATION	CAPN5	NDP	BEST1	TSPAN12	FZD4	TREX1	ZNF408	LRP5	CTNNB1	LRRC32
HP_ANTENATAL_ONSET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTENATAL_ONSET	MYH11	XYLT1	KIF5C	RPL10	BICC1	DCC	RAD21	ACTG2	LMOD1	MNS1	RIPK4	COX16	MKS1	PPP1CB	RNF2	FARSA	KIDINS220	GLUL	SDHD	MRPS22	CYP26B1	EIF5A	OBSL1	CHD7	SCUBE3	GBA	ZIC2	DYNC2LI1	LMNB1	KIF20A	CHUK	TMEM218	KDELR2	NDUFC2	KIAA0753	DEF6	FARSB	TOGARAM1	ATP1A2	RYR1	LBR	SOS1	MINPP1	MCM10	GUSB	SEMA3E	SYT2
HP_ABNORMAL_MORPHOLOGY_OF_MYOCARDIAL_TRABECULAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_MYOCARDIAL_TRABECULAE	MIB1	JUP	COA6	ACTN2	HCN4	TNNT2	NPPA	MYBPC3	NONO	SDHA	PRDM16	DTNA	LDB3	SCN5A	MIPEP	MYH7	ACTC1	SDHD
HP_BRAIN_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRAIN_NEOPLASM	ZFTA	APC	POLE	POLD1	FLI1	RB1	AAGAB	COL14A1	NF1	RELA
HP_VEIN_OF_GALEN_ANEURYSMAL_MALFORMATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VEIN_OF_GALEN_ANEURYSMAL_MALFORMATION	GNAI3	EDN1	RASA1	PLCB4	EPHB4
HP_CENTRAL_NERVOUS_SYSTEM_CYST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CENTRAL_NERVOUS_SYSTEM_CYST	LAMA1	FKTN	OFD1	ABAT	B3GALNT2	TMEM216	ARID2	EXOSC3	PDHA1	CDKN1C	KRAS	CDC42	CEP120	TBC1D24	EBP	KCNQ1OT1	CTBP1	C2CD3	DAG1	IGF2	TCTN2	DOCK6	AHDC1	TMEM231	RXYLT1	NUP62	MAB21L1	ODC1	VPS51	RAPSN	DYNC2H1	B9D1	CSPP1	TMEM237	LARS2	VSX1	MT-ATP6	SMARCA4	FKRP	SEMA3E	ARMC9	LARGE1	CPT2	IDH1	MID1	ZSWIM6	PHGDH	POMT1	SOX4	NRAS	COL3A1	TXN2	SMARCB1	CEP290	FGFR1	FAR1	SMARCC2	CRPPA	CTNNB1	TSEN34	BUB1B	ATP6V1A	ALG3	WDR73	HYLS1	TSEN15	SMG9	WASHC5	ARID1A	SEPSECS	COL4A1	GMPPB	TMEM67	POLR3A	RPGRIP1L	DYNC2I1	D2HGDH	POMGNT2	SOX11	PLG	GJB2	SMARCE1	ARID1B	CHD7	GDF6	RPGRIP1	TSEN54	MKS1	LONP1	BUB3	POMT2	DHCR7	NSD2	PIGN	CEP57	NPHP3	FTO	ATP6V1B2	EXOC2	HRAS	GPC3	B9D2	AFF3	PDHX	ZIC1	ASXL1	CPLX1	FGFRL1	POMGNT1	OPHN1	DPH1	KIAA0586	USP9X	LIPT2	TSEN2	ATP6V0A2	DPF2	DYNC2I2	GRM1	TMEM138	DOK7	TUBB	RNF113A	CCDC22	KIF7	SMARCD1	ADAR	FARSA	PUF60	TCTN3	B4GALT1	POMK	FGFR2	EVC2	SLC18A3	TXNDC15	PMM2	TCTN1	SNX14	PIEZO2	EVC	GFM1	FLVCR2	TUBGCP2	BRAF	PPP1CB	DENND5A	GLUL	LETM1	PDHB	GLI3	ATP6V1E1	NUP88	TMEM107	PEX1	B4GAT1	BUB1	SLC35A2	KCNQ1	GPC4	WDR81	TRIP13	AP1S2	CC2D2A	MUSK	DPYSL5	GRIA3	IFT80	GJB6	MYOD1	BCOR	WDR35	OCRL
HP_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARCINOMA	PTEN	DKC1	APC	MLH1	SMARCA4	NLRP1	POLD1	MSH2	POLE	CDKN1B	RSPO1
HP_SACROCOCCYGEAL_TERATOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SACROCOCCYGEAL_TERATOMA	APC2	SETBP1	SETD2	MNX1	NSD1
HP_INTRAVENTRICULAR_HEMORRHAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRAVENTRICULAR_HEMORRHAGE	KANSL1	PET100	SPARC	LMBRD1	F8	RNF168
HP_TOOTH_ABSCESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TOOTH_ABSCESS	DLX3	DMP1	NTRK1	PHEX	ELANE	ENPP1	FGF23
HP_RENAL_FIBROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENAL_FIBROSIS	GBE1	PKHD1	SLC7A7	NDUFAF6	ARL3	SLC37A4	NPHP1	MUC1	NPHP4	ACP5	REN	NPHP3	PTPRO	BSND	ANTXR1	CLCN5
HP_EAR_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EAR_PAIN	KRT17	TRAF7	TERT	SUFU	PDGFB	SMO	SMARCE1	SMARCB1	NF2	KRT16	KRT6A	AKT1	BAP1	PIK3CA	KRT6B
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	PROC	F5	ALG12	MPI	PROS1	DPM1	NGLY1	ALG6	DPAGT1	ALG8	B4GALT1
HP_ABNORMAL_SERUM_INTERLEUKIN_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SERUM_INTERLEUKIN_LEVEL	NR1H4	STX11	FASLG	IL2RA	ATP8B1	FAS	ANKRD55	UNC13D	ABCB11	IL12RB1	POLA1	MEFV	ABCB4	CD247	PRKCD	CASP10	HMOX1	STAT4	RASGRP1	PTPN22	PTPN2	IL2RB	PRF1	STXBP2	PSMB8	FADD	IL6R	SP110
HP_INCREASED_CIRCULATING_INTERLEUKIN_6	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_CIRCULATING_INTERLEUKIN_6	HMOX1	STX11	MEFV	PRF1	STXBP2	PSMB8	UNC13D	IL6R
HP_ANOMIC_APHASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANOMIC_APHASIA	PLP1	MAPT	TMEM106B	CHMP2B	TREM2	GRN	C9orf72	PSEN1
HP_PHOTOPSIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHOTOPSIA	ARHGEF18	CACNA1A	GNAQ	BAP1	PRRT2	ATP1A2	CYSLTR2	SCN1A	GNA11	SF3B1
HP_ABNORMAL_JAW_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_JAW_MORPHOLOGY	KAT6A	AGRN	TBCE	PYROXD1	NALCN	RTTN	RB1	HYLS1	RRAS	COL1A2	DPM2	RAC3	GPC3	HSPG2	SPRTN	CHSY1	EXT2	IGFALS	MED27	FAM149B1	RUNX2	ZMPSTE24	ERCC3	FANCF	EXOSC5	KATNB1	ERCC4	FANCD2	COASY	PAH	RBM10	ODC1	IRF6	PRMT7	SRCAP	CTSK	CHRNG	TRIP4	TBCD	CTC1	MYCN	COLQ	EMC10	PHF21A	LMNA	MITF	TNNI2	EHMT1	TRIP12	DHODH	EDA	GMNN	NAA10	MEG3	RARB	EFEMP2	MAD2L2	KIDINS220	FANCA	CLCN3	IBA57	TGFBR1	FBXW11	PIK3C2A	FAM20C	RPL35A	RAI1	RTEL1	TCF20	RPS26	NIPBL	CD96	FLNA	PSAT1	PEX12	SOX5	SCYL2	RTL1	TARS1	TONSL	SMS	RPS15A	CSPP1	SEMA5A	ALX3	RLIM	ZDHHC9	TGFBR2	GNPTAB	RAB3GAP2	STAMBP	MYT1L	HBB	ESS2	FIG4	PKHD1	PKDCC	SPEN	RPL15	ADAT3	RSPO2	KAT6B	RAD21	PLAA	COL13A1	LEMD3	ELN	RAB3GAP1	VPS13B	TBX1	KCNH1	VARS1	KRAS	LIG4	OFD1	MYPN	ATAD3A	ADAMTS3	PEX26	OCA2	UBE3A	COL9A2	HPDL	SLC26A2	RUSC2	PEX5	SPATA5	HELLS	CSGALNACT1	STAC3	DGCR2	PDE4D	ERCC6	EMG1	POLA1	BUD23	TERC	PMM2	FANCE	DNAJC30	DNA2	GRIP1	BRAT1	CHRND	PUS7	SPATA5L1	LGI4	VPS13A	SELENON	FLVCR2	SYNCRIP	KLHL41	PTEN	TUBGCP2	DEAF1	CRLF1	TAPT1	PTCH1	AGO2	RPS19	FGFR1	EMC1	HACD1	TMEM107	PIK3R1	OSGEP	ERCC8	GNAI3	ACAN	MKS1	TRIP13	ACTA1	IQSEC2	EP300	ADGRG1	DVL3	SPTBN1	FGFR2	DOCK3	ATP6AP2	MAPRE2	YARS1	KNL1	PIGQ	ALG14	PLXND1	NDUFB11	PAX3	KAT8	WNT7A	AFF4	ATP6V1B2	BRCA1	MYOD1	PYCR2	TWIST2	COL1A1	KDM6B	APC	HDAC8	PURA	CPE	KDM4B	AIP	SMOC1	SLC6A17	HERC2	EBP	CTBP1	CEP152	TCTN2	MEGF8	NSMCE2	ACTG1	TFAP2A	PSMD12	MTM1	ZMIZ1	CACNA1G	ALG12	PEX7	CENPE	CENPF	RAPSN	AMER1	TPM2	CDK5	TMEM237	MAFB	LZTR1	PIGL	RPL5	TNRC6B	ACTG2	FGFR3	UFD1	GORAB	SEC24D	DPAGT1	CCBE1	GHR	CDKN1C	PIGT	PRRX1	TMEM70	FGF3	ASPH	SYT2	DIS3L2	COL3A1	CRIPT	CEP290	SHOX	PPP1R15B	FHL1	NPM1	SF3B4	AGPAT2	COG1	NUP107	EDNRA	WASHC5	OCRL	DSE	SOS1	ACTL6A	MSTO1	CPLANE1	SETD5	SETBP1	GSC	NSUN2	MYL2	TGFB3	PEX3	MCM5	NRAS	MUSK	ALX4	MAPK1	NEB	FOXC1	SNRPB	LTBP4	HS2ST1	IGF1	AFF3	PEX1	TBC1D2B	CPLX1	PAX6	EFTUD2	PEX11B	PQBP1	VAMP1	BPTF	B3GALT6	NEK9	SPEG	PGAP3	CNOT3	BIN1	KIFBP	TUBB	SATB2	KIF7	TAF1	BAZ1B	RFT1	TCTN3	ERMARD	PLK4	LBR	TXNDC15	SIN3A	GPR101	UBE3B	SEC23A	PDE6D	ERBB3	NOP10	UBE2T	NBN	MRPS22	CHST14	TBX4	C12orf57	ZNF292	ASXL3	FBN1	INTS1	SEC31A	NFIX	RPL31	TRAIP	MED12	NSD1	RFWD3	ANKLE2	PLCB4	ADAMTSL4	B3GLCT	DGCR8	WDR73	TSR2	TOE1	SOST	CLIP2	GTF2IRD1	OTUD6B	CEP55	RNU4ATAC	COG7	CWC27	PRKACB	CDC6	FLCN	BRAF	SFRP4	CCDC88A	FRMPD4	GTF2I	ARSL	ERF	ANKH	DOCK6	AHDC1	HCCS	GPC4	INTU	MPLKIP	IGF2	SLC25A1	ALG1	LETM1	PTPN22	DLK1	TAFAZZIN	EYA1	DLG1	SALL4	MYO18B	COLEC11	COL5A2	SMAD3	PTCH2	NEK1	FOXE1	CAVIN1	SLC25A24	SLC12A2	TBCK	SMC1A	FUT8	RECQL4	AIMP2	WDR35	MAPK8IP3	MRAS	HNRNPU	NECTIN1	ZNF335	BUB1B	ZEB2	AP4M1	ABL1	RPS10	WDR26	TASP1	ATP10A	HNF1B	ATRX	AUTS2	PIGV	RAB18	ARID1B	MSX1	VPS53	PIGN	NHS	HOXB1	NSD2	GLE1	MYH8	COL6A2	CCDC32	FAT4	ARL6IP6	HBA1	FGD1	PREPL	PIGF	ASXL1	KCNJ6	TRRAP	RYR1	PIEZO1	SLC35A3	PRKG1	SIM1	STEEP1	PTPN2	PRR12	KIAA0753	DOK7	MYMK	HMGA2	BMP4	ATR	KCNJ2	PGAP2	LRP5	FOXP1	PTH1R	BLM	ZBTB11	PI4KA	RAD51C	TCOF1	PCNT	COL2A1	COL11A1	RPS24	GFPT1	CDT1	LAGE3	COL11A2	TRIO	POMGNT1	MAF	EDN1	NUP88	CEP135	COG6	ARX	ADAMTS2	TRPS1	POLR1B	RDH11	ANKRD11	SKI	CC2D2A	TERT	CHRNA1	BRCA2	DYNC2H1	NXN	CEP57	GRHL3	SNRPN	AEBP1	GATAD2B	FLNB	NOTCH3	MLXIPL	SUFU	GDF11	MOGS	ABCD4	ROR2	ZBTB18	SMAD4	AKT1	MCTP2	SRPX2	PITX2	KCTD1	DGCR6	PRKAR1A	VAC14	PUF60	BGN	ARCN1	ARVCF	TPM3	KIF14	SUZ12	SNAP25	CREBBP	NOTCH2	HUWE1	IDH1	SLC12A6	MFAP5	TANC2	AP3D1	FZD2	LAMB2	DDX6	BCAS3	BSCL2	RPS20	CSNK2B	SP7	MYBPC1	GPC6	IFT43	KPTN	NSDHL	UPF3B	FARS2	CLCN7	GTF2H5	HS6ST2	RPGRIP1	COL12A1	LAS1L	POMT2	PEPD	CHN1	PRKACA	STAG2	CDC73	ALX1	FGFRL1	ANK1	CCNK	SPECC1L	DYRK1A	DPYD	STAG1	BRIP1	PEX10	PAX1	SOX6	DLX4	ATRIP	SSR4	NUP133	SETD2	ZBTB20	STX1A	SCARF2	P4HB	RAB23	RPL11	ERCC2	ITGA8	ADAMTSL2	SLC18A3	SLC9A6	DHCR24	GBA	PIEZO2	MINPP1	JMJD1C	GTF2IRD2	MTX2	INSR	UBA1	PIGO	PTPN11	CLCN4	TRMT10A	TBX15	TGFB2	GJA1	COL5A1	EZH2	AP2M1	PIGA	STAT4	IFT80	WNT3	DNMT3B	TNFSF11	ORC4	ATPAF2	C1R	JARID2	LARGE1	RERE	FKTN	NTNG2	UNC80	MECP2	MYO9A	EED	MAT2A	SMG8	MGAT2	AGA	RIT1	FANCC	CEP120	PLA2G6	FBN2	EIF4H	PIGW	IDUA	CTU2	LIFR	UBB	MYLPF	B9D1	SLC2A10	WDR4	RSRC1	TWIST1	XRCC4	HMX1	OTX2	RPL10	BRCC3	CASK	BICD2	ESCO2	ARNT2	CILK1	SLC6A9	ATP7A	SC5D	LRP4	SMC3	SEMA3E	CHST3	PTPN23	B4GALT7	TPRKB	ERCC1	CRPPA	POLR1D	SHANK3	COG4	PEX6	RPL27	HRAS	PSPH	WDFY3	SLC25A19	ECEL1	DYNC2I1	D2HGDH	TELO2	HYOU1	BCORL1	METTL27	DHCR7	TRIP11	PPP1R12A	MYH11	RPS6KA3	TMCO1	FTO	PEX16	ERGIC1	CENPJ	IDS	BDNF	GALNS	TENT5A	C2CD3	MAN2B1	TGFB1	COG8	KMT2E	RBBP8	ERCC5	FKBP6	PIGB	BRD4	RNF113A	OTUD5	SNIP1	GLI2	PIK3CA	KCNK9	TGDS	SH3BP2	ATP6V1A	MSL3	PUS1	GLI3	TCF7L2	PHIP	CLCF1	PEX14	IGBP1	TSEN54	CLTCL1	SOX9	VPS37D	POC1A	LOXL3	KIF11	IARS2	FDFT1	SMAD2	IGF1R	PTDSS1	TP63	TMEM67	IL11RA	LRRC32	MYLK	HYMAI	MESD	IFIH1	ORC6	HEY2	XRCC2	THOC6	SETD1A	ACTB	PYCR1	TNNT3	SERPINH1	CANT1	ORC1	PIGG	TTN	RIPK4	ZBTB24	RAF1	CNTNAP1	OSTM1	SPRED1	CHRNE	NUP188	KBTBD13	ANTXR1	FMR1	RPS28	DCHS1	CTDP1	SIX1	RPL35	FKRP	FANCB	TNPO2	NEXMIF	CUL4B	EDEM3	EXOC7	ADAMTSL1	ARID2	BPNT2	HIRA	PALB2	CHAT	ARHGAP29	COL6A3	FANCG	FGF10	RPGRIP1L	HDAC6	CUL7	HERC1	PDGFRB	SOS2	SEC24C	CDCA7	NHP2	CDC45	COL9A3	TMEM231	ANKRD17	MYH3	B9D2	EXOSC1	GAD1	POGZ	TMEM216	KDM6A	SATB1	NUP85	KIAA0586	TAB2	FOXF1	DYM	OCLN	CAV1	SLX4	DNAJC21	ASXL2	HBA2	SMO	MIR140	RRAS2	PRKG2	MEN1	CCDC22	SVBP	FOS	PCGF2	YARS2	MED13L	COL9A1	STRA6	PEX2	GEMIN4	ALG9	MBD5	WASF1	RELN	SLC35C1	PPP3CA	ALG11	CTNND2	MAP3K7	SON	TINF2	RPS29	EPG5	GRIA3	RREB1	CBL	EXTL3	SH3PXD2B	RBM8A	DVL1	SIX5	DKC1	COMT	BNC2	TRMT1	GATA1	RAD51	DPM1	MAMLD1	NCF1	YY1	TOR1A	NELFA	POLR1C	RPL18	DZIP1L	MMP2	DDR2	ANO5	SLC29A3	GTF2E2	ACTL6B	CHD7	ATG7	MADD	LAMA2	FANCL	DPYSL5	FOXG1	PLAG1	MID1	PHGDH	KDM5C	ITGA7	NEDD4L	CA2	RHOBTB2	LMOD3	KCNMA1	SLC10A7	BCL7B	CHUK	KCNN3	TBC1D7	NEPRO	TOPORS	GPKOW	POLD1	MED25	APC2	NARS1	MAP3K20	BRF1	MAGEL2	FANCI	SVIL	VPS33B	FBXL3	USB1	RFC2	POMT1	UBR7	BICRA	SPRED2	SMPD4	SLC5A7	IRX5	GRIA4	ADGRG6	PLAGL1	REV3L	TCTN1	DSTYK	ABCC9	DNMT3A	FLII	HNRNPH2	PRRT2	SLC3A1	WNT5A	CFL2	ADA2	SOX18	COG5	ANKRD55	BUB1	IL2RA	RNF2	NTNG1	CLIC2	COX7B	SCN9A	IL2RB	WBP11	GP1BB	LTBP3	NDE1	AMMECR1	KAT5	SRY	DONSON	VPS35L	ABAT	EIF4A3	ZNF341	MED13	LIMK1	CNOT2	KCNK4	RPS17	RPS7	HSD17B4	SPOP	EXOC6B	BMP2	PPARG	CDH11	PAX7	RNF125	COL6A1	RPS27	DDB1	ZNF699	BCL11B	SLC35A2	POLR1A	GNPAT	PGM1	PALS1	TBC1D20	PEX19	CD247	TUBB3	POLR3A	WT1	MIA3	GLDN	TXNL4A	EXT1	PNKD	GNB2	SLC37A4	GLB1	BUB3	TBL2	C1S	IL1RAPL1	PARN	ASNS	RASA2	FANCM	LOX	ADAMTS10	OPHN1	DPH1	POLE	TMEM270	NCAPG2	PEX13	DYNC2I2	HTT	B3GAT3	TP53RK	ACTA2	BCL11A	LMBRD2	RPL26	GATA4	P4HTM	ZNHIT3	NF1	SH2B1	SLC6A8	MAP2K1	KCNJ5	BANF1	FOXE3	BMPER	IPO8	ZC4H2	CSNK2A1	AP1S2	WRAP53	PIGY	LEMD2	MYH7	EIF5A	TRAPPC4	CDH1
HP_ABNORMAL_C_PEPTIDE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_C_PEPTIDE_LEVEL	STAT6	CAVIN1	KCNJ11	INSR	KLF11	BSCL2	UCP2	FOS	GCK	BLK	NEUROD1	APPL1	PDX1	ABCC8	HNF1A	INS	AGPAT2	NAB2	PPARG	HNF4A	PAX4	HADH	CEL	CNOT1	CAV1
HP_REDUCED_C_PEPTIDE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_C_PEPTIDE_LEVEL	STAT6	NAB2	KCNJ11	CNOT1	INS	GCK
HP_INCREASED_C_PEPTIDE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_C_PEPTIDE_LEVEL	CAVIN1	KCNJ11	INSR	PPARG	BSCL2	UCP2	FOS	ABCC8	HADH	CAV1	AGPAT2	HNF1A
HP_SCAPHOCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCAPHOCEPHALY	ERGIC1	IFT122	HSD17B4	IFT140	KRAS	GLI3	KCNJ2	IFT43	DPH1	ALG14	IL6ST	ARCN1	KCNJ5	IDS	KPTN	AGO2	FBN2	RYR1	ASXL3	SOX6	PEX19	TWIST1	CNTN1	IL11RA	NFIX	TRAIP	KIF15	TBC1D7	FBN1	OFD1
HP_ABNORMAL_TONGUE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TONGUE_MORPHOLOGY	RERE	UBE3A	LMNB2	OFD1	SLC6A19	COL2A1	TBCK	EXOSC3	MGAT2	CDKN1C	GPC3	AGA	IL6ST	GTF2I	CEP120	NCF1	LMNB1	KCNQ1OT1	ROR2	KRT5	TSHR	EIF4H	FAM149B1	RUNX2	POLR1C	GPC4	PRRX1	PIGW	RBM10	LIFR	GRIK2	KRT6A	DDX59	COL11A2	FIBP	ACTB	DYNC2H1	B9D1	ZMPSTE24	OTX2	NEFL	NFIX	EDN1	FOXE1	TAF1	KY	CRKL	LAMA2	LMNA	LARGE1	DVL3	TG	NEK1	FOXG1	PLAGL1	FDX2	ERLIN2	MID1	CAVIN1	SLC25A24	EHMT1	SDHD	HYMAI	SNX14	SH3TC2	SBF2	FREM2	SDHC	POLR1D	SGCG	MED13L	ALG3	BCL7B	ARID1A	SMARCA4	CHUK	FKRP	SPTBN1	HRAS	IYD	FAM20C	MMACHC	KCNN3	ECEL1	DYNC2I1	FLNA	TOPORS	FUCA1	IFT140	SOX5	MED25	ATRX	TELO2	NKX2-1	PRKAR1A	ALX3	NXN	POU1F1	GATA1	RAB3GAP1	NRXN1	POMT1	METTL27	AKT1	DHCR7	RAB3GAP2	DVL1	SNRPB	AMPD2	FTO	USF3	FIG4	PTPN22	KIAA0753	ENG	IDS	HEXB	RSPO2	RTL1	POMGNT1	GLI3	ELN	SLC46A1	WNT10A	C2CD3	MAN2B1	POMT2	RFC2	TBX22	DNMT3B	FAM111A	FRAS1	RBBP8	PRR12	GJB2	NKX2-5	OCA2	FKBP6	PIGB	MYMK	SLC39A4	BMP4	HELLS	DUOX2	CRPPA	SNIP1	PIK3CA	TGDS	VPS13B	POMK	TSHB	KRT14	KLLN	BUD23	PI4KA	REV3L	ALG6	DNAJC30	TCTN1	TCOF1	NFASC	ABCC9	CLTRN	VPS13A	KCNH1	MEG3	PTEN	VPS37D	THRA	WNT5A	SLC26A4	TMEM107	PEX1	GNAI3	TMEM67	CLIC2	MKS1	ARSB	ADGRG1	BTK	BSCL2	CC2D2A	DLK1	COL11A1	PLXND1	HNRNPK	CPLANE1	GRIP1	AFF4	ATP6V1B2	KCNMA1	AMN	SNRPN	WDR35	MLXIPL	ALG8	INPP5E	TMEM216	FRG1	AIP	HLA-B	MCTP2	SRPX2	ZBTB24	SLC5A5	NOP56	IGF2	LIMS2	TCTN2	LIMK1	GLB1	VPS33A	GSN	GNPTAB	PSMB8	TMEM231	VAC14	PROP1	INSR	POP1	CSPP1	TMEM237	IDUA	PPARG	CUL4B	KCNJ11	RNF125	ECM1	ZNF699	SOX9	GAA	ABCC8	PAX8	FZD2	RALGAPA1	LHX4	LHX3	CEP290	AGPAT2	CSNK2B	PEX16	EDNRA	PIGS	GMPPB	RPGRIP1L	PLCB4	GUSB	PTH1R	COL7A1	SETBP1	P4HA2	DUOXA2	RPGRIP1	SLC37A4	MAPK1	PTDSS1	TBL2	CDCA7	MT-TE	ZFP57	TRIM37	PQBP1	B9D2	SEC23B	AFF3	SMARCB1	CCDC47	TRAF3IP2	LMBRD1	TMEM270	RIPK4	DYNC2I2	CAV1	PIK3C2A	MORC2	KDM5C	STX1A	CCDC22	PRKAG2	KIF7	BAZ1B	MMP1	TCTN3	NEU1	SMO	HS2ST1	CUBN	POLR1B	TXNDC15	PANK2	GPR101	BCR	GTF2IRD2	HLA-DRB1	FOS	PDE6D	HESX1	TPO	TBX15	POU4F1	IL36RN	SLC35C1	PKP1	KCNQ1	IPO8	IFT80	ACVRL1	SDHB	COG7	CLIP2	GTF2IRD1	SLC52A3	TRMU
HP_ABNORMAL_TONGUE_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TONGUE_PHYSIOLOGY	NOP56	SLC39A4	GAA	SH3TC2	SCN9A	SPTLC1	RETREG1	GIPC1	SBF2	UBA1	EXOSC3	FXR1	VWA1	ELP1	WNK1	AIFM1	TBCD	KIF1A	SLC25A21	GNAI3	NOTCH2NLC	ALS2	SLC52A2	PLCB4	AGTPBP1	SYT2	RMND1	CACNA1A	TSPYL1	CHCHD10	SMN1	NDUFS4	ATP13A2	KCNK9	SCN1A	SYNGAP1	PRRT2	EDN1	ASAH1	MTPAP	SLC52A3	NTRK1	VCP	FRAS1	TUBB4A	ATP1A2	ADPRS	OPTN	SMN2
HP_ENLARGED_TONSILS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_TONSILS	IDS	AKT2	IDUA	CA2	CD40LG	IL2RA
HP_GINGIVAL_RECESSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GINGIVAL_RECESSION	DSP	FIG4	CTSC	C1R	VAC14
HP_HOODED_EYELID	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HOODED_EYELID	SMC3	PRR12	SOX6	AP1G1	PIGQ
HP_ABSENT_FOVEAL_REFLEX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_FOVEAL_REFLEX	CACNA1F	PRPH2	RPGR	RDH5	RLBP1	RBP4	GNAT2	ATF6	PDE6H	CNGA3	PDE6C	CNGB3	HPS6	RHO	TLCD3B
HP_WHEEZING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WHEEZING	HYDIN	SCNN1G	ZMYND10	DRC1	DNAI1	CCDC40	RSPH3	MCIDAS	DNAH5	CCDC39	STK36	CFTR	GAS2L2	CCDC103	DNAAF11	CFAP300	DNAAF2	SPAG1	ODAD1	SERPINA1	DNAL1	TTC12	CCNO	RSPH9	CRLF1	ODAD2	SCNN1A	HLA-DQB1	CFAP298	DNAAF1	FOXJ1	FCGR3A	SCNN1B	NEK10	DNAAF4	ODAD3	ODAD4	DNAAF5	LRRC56	GAS8	NOS1	RPGR	RSPH4A	RSPH1	DNAAF3	DNAH9	CCDC65	ATP8B1	DNAJB13	OFD1	DNAH11	NME8	NKX2-1	HLA-DQA1	DNAI2	CFAP221	SPEF2	DNAH1	DNAAF6
HP_ABNORMAL_BREATH_SOUND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BREATH_SOUND	HYDIN	SCNN1G	ZMYND10	MYO9A	DRC1	AGRN	CCDC40	DNAH5	CCDC39	STK36	CFTR	COQ2	SCN4A	DNAAF11	VAMP1	DNAAF2	SPAG1	ODAD1	SERPINA1	DNAL1	CTSK	TTC12	TERT	CCNO	HLA-DRB1	LAMA3	JAG1	VPS33A	SCNN1A	HLA-DQB1	CFAP298	FOXJ1	TRPV4	DNAAF4	SLC25A1	ODAD4	SLC5A7	SFTPA1	DNAAF5	LRRC56	GAS8	IGHMBP2	NOS1	SCARF2	RPGR	RSPH4A	RSPH1	DNAAF3	DNAH9	CCDC65	ATP8B1	SLC18A3	OFD1	SNAP25	SLC18A2	ABCA3	COL13A1	FLNA	HLA-DQA1	DNAI2	SPEF2	DNAH1	RTEL1	SFTPA2	MID1	SLC52A3	DSP	PAX8	SYT2	MIR140	DNAI1	RSPH3	MCIDAS	TERC	CHAT	FAM13A	SFTPC	GAS2L2	LAMC2	CCDC103	CFAP300	RSPH9	PLP1	RYR1	LAMB3	KIF22	CRLF1	ODAD2	PARN	D2HGDH	DNAAF1	FCGR3A	FUZ	TSPYL1	SCNN1B	NEK10	MUC5B	CSF2RA	ODAD3	MAP3K7	ATP11A	CSF2RB	GTPBP3	DPP9	DNAJB13	DNAH11	NME8	NKX2-1	CFAP221	SERPING1	DNAAF6	STN1	GNPTAB
HP_CRACKLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRACKLES	SCNN1G	DSP	SCNN1B	MUC5B	CSF2RA	ABCA3	TERT	SFTPA1	HLA-DRB1	RYR1	ATP11A	TERC	NKX2-1	CSF2RB	SCNN1A	PARN	CFTR	RTEL1	FAM13A	DPP9	SFTPC	STN1	SFTPA2
HP_NECK_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NECK_PAIN	HMBS	DKK1	RASA1	HTRA1	TONSL
HP_SHOULDER_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHOULDER_PAIN	B2M	PMP22	CD46	CFH	TONSL	CFI	HELLPAR
HP_HIP_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIP_PAIN	ZMPSTE24	LMNA	COL2A1	TRPV4	BSCL2	VCP	MATN3	LEMD3	HNRNPA2B1	HNRNPA1
HP_KNEE_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KNEE_PAIN	COL9A2	B2M	SLCO2A1	COMP	COL9A1	LMX1B	COL2A1	GJB2	TRAPPC2	TONSL	GJB6	BSCL2	COL9A3	MATN3
HP_CHOKING_EPISODES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHOKING_EPISODES	SLC18A3	SLC2A3	VAMP1	SLC25A1	SNAP25	SYT2	SCN4A	MYO9A	AGRN	SLC5A7	COL13A1	HTT	CHAT	ZNF699	PLA2G6	CACNA1A
HP_ABNORMALITY_OF_VENOUS_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_VENOUS_PHYSIOLOGY	JAK2	MPL	HFE	PIGA	TET2	F5	BMPR2	CD55
HP_HETEROTAXY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HETEROTAXY	MMP21	PIGG	GDF1	CTBP1	KDM3B	ACTG2	LETM1	PKD1L1	CFAP53	NODAL	ZIC3	CCDC32	CFC1	FANCB	CPLX1	NELFA	FOXJ1	CCDC39	CFAP52	NSD2
HP_SCLERAL_STAPHYLOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCLERAL_STAPHYLOMA	OCA2	MC1R	HADHA	IMPG2	BEST1	VPS4A	ARL2	PIGT
HP_EYE_MOVEMENT_INDUCED_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EYE_MOVEMENT_INDUCED_PAIN	COL8A2	ZEB1	AGBL1	SLC4A11	TCF4
HP_ADDICTIVE_BEHAVIOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADDICTIVE_BEHAVIOR	PML	IRF2BP2	SLC2A3	GABRA2	ADH1C	NUMA1	STAT5B	BCOR	NPM1	PRKAR1A	HTT	FIP1L1	HTR2A	UNC93B1	STAT3	LEMD3	TRAF3	RARA	TICAM1	NABP1	TBK1	TLR3	TBL1XR1	ZBTB16	ADH1B
HP_ABNORMAL_CARDIAC_VENTRICULAR_FUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CARDIAC_VENTRICULAR_FUNCTION	FLNC	MT-TW	MT-TF	TTN	EFEMP2	TGFBR1	MYPN	LOX	MT-CO2	ROR2	MAT2A	TNNT2	TBX20	ELN	MT-TL1	RRM2B	MT-ND5	ABCC6	MT-TV	MT-TC	DYSF	MYH11	NPPA	GDF1	BTNL2	SDHB	EYA4	SDHA	PPCS	APOB	PRKG1	NKX2-5	LDLRAP1	TOP3A	FBLN5	ACTA2	LDB3	TWNK	ATRX	MYH7	ZMPSTE24	MT-CO1	CITED2	OTUD5	TET2	KIF20A	FKRP	TGFBR2	POLG	LAMA2	LMNA	SLC6A6	LTBP1	FBN1	MT-CYB	MYH6	ACTC1	ENPP1	ABCG5	MFAP5	ABCG8	NONO	GAA	SELENON	TTR	TNNI3	VHL	SMAD3	POMT2	BMPR2	DLD	PRDM16	SMAD4	SCN5A	LDLR	DVL1	SGCG	GATA6	SDHD	ACADVL	B2M	SMAD2	COA6	MT-ND6	TGFB2	FOXE3	RPL3L	POMT1	MT-CO3	MT-TS2	MYLK	SLC25A4	GATA4	SLC34A2	EIF2AK4	POLG2	PCSK9	TAB2	TGFB3	SDHAF1	GTPBP3	MT-TQ	TLL1	DAXX	HEY2	MT-TK	WNT5A	HLA-DRB1	MT-ND1	FHOD3
HP_ABNORMALITY_OF_PULMONARY_CIRCULATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_PULMONARY_CIRCULATION	FLNC	EOGT	SMAD9	IL12A-AS1	IRF5	MT-ND6	IL12A	SFTPB	FGFR1	ABCD4	HLA-B	TNNT2	GBA	TBX20	SLC4A1	FBN1	FIG4	ABCC6	CTCF	HSPG2	SMARCAL1	FGFR3	GNAQ	VPS33A	PIEZO1	NKX2-5	MT-TW	VAC14	TTC26	COX5A	LIFR	ERAP1	MT-TH	ARHGAP31	ZMPSTE24	HBB	NDUFB10	SERPINC1	PROC	MT-CO1	SLC29A3	CCN2	COLQ	MPL	KIF20A	CBS	MT-ND1	KRT8	DEF6	LAMA2	MUC5B	LMNA	MLX	STAT4	ACTA2	UBAC2	SMAD4	ZNF699	TBX4	SLC25A24	SARS2	CA2	TNNI3	LAMB2	SLC37A4	MEFV	BMPR2	CAV1	SFTPA2	PGM1	COG1	MT-TF	CLCN7	FOXF1	ALMS1	ACVRL1	MMACHC	NF1	MT-CO3	MYH11	NKX2-1	GATA4	TNFSF11	MED25	CITED2	SLC34A2	NOTCH1	CCR1	MT-CO2	STAT1	EIF2AK4	TLL1	TERT	PIGN	HABP2	MT-TL1	GJA1	COL1A2	JAK2	AKT1	PIGA	FLNA	RTL1	SCARB2	ENG	MYPN	G6PC3	SPECC1L	NFIX	COX6B1	TLR4	SFTPC	LIPT1	CCR6	COX7B	TET2	IL10	CD55	MT-TS2	PPCS	PROS1	CHST3	KCNN4	KRT18	PAM16	GATA6	GDF2	THPO	DOCK6	MEG3	FOXP1	BTNL2	KCNJ5	MT-ND5	UBE2A	IL12B	MYH6	PLP1	ACTC1	ENPP1	ATP5F1A	COX8A	SNX10	KRAS	MGP	IFNGR1	NOD2	TCIRG1	CACNA1D	C4A	KIAA0319L	BANF1	MTHFR	IKBKG	PTEN	RPL3L	IPO8	F13A1	DLL4	KLRC4	NDUFA8	KCNK3	NFU1	MED12	DLK1	HLA-DRB1	IDUA	IL23R	RBPJ	MT-ND4	AGGF1	F2	FAS	AFF4	MT-TQ	PDSS1	COL1A1
HP_REDUCED_FEV1_FVC_RATIO	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_FEV1_FVC_RATIO	SCNN1G	DNAH11	ENG	SCNN1B	HLA-DPB1	SCNN1A	CFTR
HP_ABNORMALITY_ON_PULMONARY_FUNCTION_TESTING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_ON_PULMONARY_FUNCTION_TESTING	TGFB1	RTL1	SCNN1G	PLOD1	ENG	IDS	TTN	TRAPPC11	CHRND	MESP2	TPM2	NEB	MYO1H	B3GALT6	PYROXD1	BAG3	FCGR2A	GIPC1	NLRP3	GALNS	CD19	ACTN2	FRG1	PARN	CFTR	FLNB	CRPPA	NFKB2	IKZF1	DOK7	CTLA4	CHRNE	SFTPC	MEGF10	DNASE1L3	COPA	TERT	AGRN	ACP5	VCP	HLA-DRB1	TNFRSF13B	XYLT1	LRP4	HPS4	MYPN	TOR1A	SCNN1A	SELENON	LRP12	KBTBD13	COL2A1	BAP1	EIF2AK4	SYT2	SCN4A	NDUFAF6	MT-TL2	MT-TN	MS4A1	MAP3K20	SMARCE1	TSC1	CR2	NF2	ACTA1	GZF1	STAC3	CSF2RA	MEG3	HES7	ICOS	FGFR3	FARSA	DDR2	BTNL2	TRAF7	SMO	FKRP	TNFSF12	NEK10	RNF168	WDR19	CD81	COL6A2	RNU4ATAC	MUC5B	SLC12A6	COL13A1	AKT1	SYNE1	KLHL41	DKC1	NFKB1	SBF2	SFTPA2	TNFRSF13C	MYH7	HPS1	PRTN3	MUSK	SLC25A21	HLA-DPA1	ABCC6	STK36	SMARCB1	SGCG	ALMS1	CHRNA1	NOTCH2NLC	MYOT	HLA-B	GDAP1	RYR1	HLA-DPB1	TPM3	RTEL1	TSC2	SUFU	CHRNB1	XYLT2	SLC34A2	JAG2	PIEZO2	GGPS1	DLK1	CSF2RB	GLB1	AK9	PRKCD	RAPSN	DNAH11	SCNN1B	PDGFB	ITCH	MT-TL1	CHCHD10	UNC45B	NKX2-1	MCIDAS	PTPN22	PIK3CA	GNPTAB
HP_INTERLOBULAR_SEPTAL_THICKENING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERLOBULAR_SEPTAL_THICKENING	CSF2RB	SFTPB	SLC34A2	EIF2AK4	BMPR2
HP_RAYNAUD_PHENOMENON	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RAYNAUD_PHENOMENON	AGXT	RNASEH2B	LBR	SLC12A3	STING1	COL4A1	SPP1	ZMPSTE24	COQ2	GUCY1A1	ADAR	IRAK1	RNASEH2A	ACP5	TREX1	CLCNKB	ADA2	LMNA	RNF125	RNASEH2C	IFIH1	STAT4	SAMHD1
HP_CORONARY_ARTERY_ANEURYSM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORONARY_ARTERY_ANEURYSM	LDLRAP1	PCSK9	ABCG8	APOB	LDLR	ABCG5	PRKG1
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	GAA	PSAP	AKT3	CNP	COL4A1	PLP1	PUS3	ARSA	PIK3CA	GFM2	CNKSR2	DDHD2	DPYD	RARS1	HTRA1	B4GALNT1	SPG11	NOTCH3	TM4SF20	SELENOI	SDHB	PAK1	PDP1	MMACHC	CLN5	GM2A	TMEM222	SLC39A14	MSTO1	ODC1	LMNB1	CLN8	RPL10	TRAPPC12	ATN1	GNB2	AHCY	LEMD2	CYP27A1	CACNA1G	STRADA	ZFYVE26	TREX1	RFT1	NKX6-2	AP5Z1	ALG2	ACTA2	UBTF	PYCR2	CYP7B1	ACTL6B
HP_PERIVENTRICULAR_WHITE_MATTER_HYPERINTENSITIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIVENTRICULAR_WHITE_MATTER_HYPERINTENSITIES	GM2A	PSAP	TMEM222	RPL10	CNP	STRADA	ARSA	SELENOI	GNB2	ACTA2	PAK1	MMACHC	CLN5	CNKSR2	ACTL6B	DDHD2
HP_ABNORMAL_GASTROINTESTINAL_MOTILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GASTROINTESTINAL_MOTILITY	TGFB1	POLG	MT-ND6	CPOX	HSD17B10	MYO1H	MYL9	FCGR2A	HMBS	FAH	FOXP3	MYH11	TWNK	CAVIN1	FLVCR1	ACTB	COL4A6	RABL3	ERBB3	IARS2	TRAPPC11	TYMP	MT-TS2	UNC45A	LIG3	LMOD1	MT-TW	GMPPA	MT-TH	MTRFR	CDKN2A	MDM2	DDIT3	CDK4	GUCY2C	RAD21	BRCA1	COL4A5	HNRNPK	SON	MT-CO1	RRM2B	MYLK	HMGA2	PHOX2B	MT-ND1	MT-ND5	AAAS	ACTA2	CLMP	CFTR	PALB2	EWSR1	TXN2	ATP1A2	WFS1	FUS	SMAD4	SAMD9	SLC6A8	MT-TF	BRCA2	NUTM2B-AS1	STAT3	ATP1A3	GUCY1A1	SOX10	CACNA1A	SLC1A3	UBR7	TP53	MT-CO3	ACTG2	PALLD	FLNA	MT-CO2	MT-TL1	WT1	KRAS	IDS	GLA	DHCR7	TANGO2	MT-ND4	IVNS1ABP	MT-TQ	PPOX
HP_PRURITIS_ON_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRURITIS_ON_HAND	NR1H4	ABCB11	ABCB4	ATP8B1	CFTR
HP_ABNORMAL_PERISTALSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PERISTALSIS	GMPPA	MYO1H	AAAS	MYL9	ACTB	FLVCR1	RAD21	ACTG2	SAMD9	MYH11	COL4A5	GLA	MYLK	COL4A6	STAT3	PHOX2B	IVNS1ABP	IARS2	TRAPPC11	GUCY1A1	ACTA2	CLMP	LMOD1
HP_LOW_APGAR_SCORE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_APGAR_SCORE	PDHA1	LONP1	PRPS1	MTM1	PLPBP	USP9X	ALDH7A1	SLC13A5	PNPO	MCTP2
HP_ELEVATED_GAMMA_GLUTAMYLTRANSFERASE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_GAMMA_GLUTAMYLTRANSFERASE_LEVEL	TTC26	COG6	MARS1	LIPA	SLC25A13	MRPL3	MICOS13	DEF6	SLC51B	TREX1	PKHD1	ALMS1	KIF12	SLC37A4	DZIP1L	SLC51A	GIMAP5	ABCB4
HP_GLOMERULAR_DEPOSITS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLOMERULAR_DEPOSITS	COL4A4	NUP107	GATA3	LMX1B	COL7A1	NOS1AP	ARHGDIA	COL4A3	CEP83	MME	CFH	MMP1	DGKE	RNU7-1	COL4A5	SPRY2
HP_PULMONARY_VENOUS_HYPERTENSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_VENOUS_HYPERTENSION	FLNC	TNNT2	KCNN4	KIF20A	TNNI3	MYPN	PIEZO1	SLC4A1	SLC37A4
HP_CONJUNCTIVAL_HYPEREMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONJUNCTIVAL_HYPEREMIA	MAPT	AP1G1	NLRP3	SHMT2	TNFRSF1A
HP_ABNORMALITY_OF_CARDIOVASCULAR_SYSTEM_ELECTROPHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CARDIOVASCULAR_SYSTEM_ELECTROPHYSIOLOGY	TP53	CACNA1S	NOS1AP	RYR2	PRKAG2	PLXND1	CDKN2B	UQCRFS1	SCN1B	RRAS	TBX20	SCN4B	GPC3	COX7B	MT-ND1	RIT1	MT-ND5	TBX5	DES	HSPG2	TGIF1	ACTC1	TNNI3	AKAP9	EYA4	DCAF17	TSC2	EIF4H	SELENON	APOB	NKX2-5	EXOSC5	TTC26	LDLRAP1	EMD	PKP2	RNASEH1	PLN	TWNK	MT-ATP6	ATRX	CDON	ANK2	DLST	PEX7	FGFR1	MT-CO1	TSC1	LRP6	GNB5	PCCB	TLL1	GBA	DEF6	POLG	ACADVL	TG	PEX5	TPM3	VHL	MT-ND6	NAA10	PHYH	COQ9	MT-ATP8	CASR	WIPI2	EFEMP2	STIL	MT-TF	KCNH2	GALC	CAV3	KCNE3	ATP1A3	SIX3	HRAS	SCN3B	LAMB3	SCN9A	KCNE1	KCNE5	CALM3	SFTPB	PTCH1	GATA4	ZIC2	POLG2	SLC19A2	PCSK9	MRPL12	ELN	GTPBP3	SCN5A	MYPN	DISP1	XK	MT-TL1	METTL27	MT-CO3	KYNU	CREBBP	FHL1	JUP	FHOD3	HBB	PTPN22	IDS	HCCS	PEX11B	MYOZ2	SDHAF2	MT-TC	LIPT1	KRAS	NODAL	CDC73	TTR	FKBP6	SCNN1A	FGF8	TSHR	SDHB	MT-TK	RET	LMNA	GAS1	RYR1	ERCC6	USP18	PEX6	CALM1	BUD23	ATP6V1A	SDHD	HMBS	TCAP	DMD	DNAJC30	MT-CYB	SLC2A10	BRAT1	TRPM4	SDHC	DLL1	CLCF1	KCNE2	TDP2	NPPA	GNAS	RHAG	VPS37D	DST	PEX14	RHD	EP300	DSG2	SNTA1	CPT2	SCNN1B	SLC1A3	MT-TE	PIGU	SLMAP	CACNA2D1	TSPYL1	CACNA1C	TECRL	PEX13	CACNB2	KIF1B	GPX4	HCN4	CDH2	TMEM127	NDUFB11	STX16	GLA	LARS2	CASQ2	KCNJ2	PTPN11	NF1	MT-TW	GABRA3	MYBPC3	KCNJ11	PEX1	TSHB	BRAF	KCNQ1	RAF1	SCO2	STAG2	MYH7	MAX	SLC40A1	LAMA3	SDHA	PSAP	GSN	LRP12	UCP2	TBX3	LDB3	SLC25A20	SALL4	SCNN1G	SCUBE3	TPM1	GLI2	WAS	TNXB	DOLK	TMEM70	SLC12A3	LHX4	ERCC8	HNF1A	ATP6V1E1	MYL3	SOS1	HLA-B	MDH2	GNA11	SHH	TDGF1	NDUFB8	TAB2	DUOXA2	KCNJ5	BVES	ELP1	GYG1	NRAS	SOS2	KCNJ8	TRDN	DSC2	CPOX	TMEM43	PCCA	FOXC2	GJA5	RBM20	BPTF	PEX12	MT-TS2	SCN10A	ALDOA	MRPS14	ASXL1	MEFV	CDKN1B	DSP	BAZ1B	NEU1	HTRA2	WIPF1	RRAS2	RMRP	MT-TV	PRKG2	GATAD1	MT-ND4L	HLA-DRB1	POMT2	COQ4	ATP1A2	JPH2	DUOX2	FMO3	CALM2	HESX1	ALG10B	ABCC9	RHCE	NKX2-6	GLUL	PEX10	HEPHL1	PEX3	MT-ND4	LPIN1	SOX10	FH	PTEN	TANGO2	GAA	GPC4	PEX26	NDUFA8	CSF2RA	KCND3	SLC5A5	ISCU	CDKN2C	CLIP2	CBL	RANGRF	GTF2IRD1	SFTPC	YY1	MYO1H	COL4A1	TNNT2	MT-ND3	LAMP2	GTF2I	CTLA4	NCF1	SLC25A11	DYSF	TOR1A	CDKN1A	TOP3A	DPP6	TTN	TAFAZZIN	MT-TH	DNMT3A	KCNJ18	FOXH1	DNAJC19	MEN1	SYNE2	RRM2B	CLCNKB	MADD	LAMA2	SMAD3	LEMD2	ABCC6	KCNA5	PLEC	ABCA12	MRAS	LDLR	BCL7B	HLA-DPA1	IYD	CACNA1A	SLC25A4	GJA1	MYL2	MT-CO2	TNNI3K	MFAP5	IFNG	POU1F1	BRF1	NDUFAF3	HMGCL	APRT	AKT1	SVIL	HADH	TPM2	AGXT	DMPK	ACADM	HADHB	GATA5	GNB2	NDUFS2	SLC4A3	ENPP1	RAB3GAP2	FBP1	RFC2	MECP2	NUP155	TET2	ABCA3	HJV	SPRED2	ACTN2	MYH6	HFE	CPT1A	ACTA1	ABCG8	CNBP	BMP2	PPA2	ECE1	FLAD1	PPP1CB	SRSF2	MYL4	PRTN3	TGFBR1	TNNC1	SYNE1	HLA-DPB1	CLIC2	PEX19	PSMD12	CSF2RB	SDHAF1	TGFB3	DAXX	FLNC	AMN	CSRP3	MYLK2	TTPA	PPOX	GDAP1	MLXIPL	SRY	LRP1	GCGR	MGME1	SURF1	BTNL2	SPECC1L	HADHA	LIMK1	ABCC8	VPS33A	PSMB8	PROP1	GPD1L	HDAC4	GMPPB	TGFBR2	KIF20A	PHOX2B	DPAGT1	ZNF699	ABCG5	SGO1	PAX8	LHX3	PRDM16	PGM1	LAMC2	CRLF1	SMC1A	ALPK3	FXN	P4HA2	CITED2	PEX2	MGAT2	SPRED1	ACAD9	TBL2	CIZ1	PEX16	RASA2	FBXL4	SCN4A	PIK3CA	IKZF1	TMEM270	CAVIN1	SEMA3A	SCO1	AKAP10	CDH23	STX1A	PNPLA2	MT-ND2	SCN2B	CACNA1D	CUBN	PYGM	NEXN	MTFMT	LZTR1	GTF2IRD2	CTNNA3	GATA6	GFM2	BANF1	TPO	GNAI2	DBH	MMP2	KCNK3	JAG2	DTNA	MMP14	MT-TQ	EPAS1	HNF4A	GNAQ	MTO1	KIT
HP_ABNORMAL_MORPHOLOGY_OF_THE_GREAT_VESSELS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_THE_GREAT_VESSELS	RERE	ELN	NTNG2	KAT6A	ZEB2	EED	CCDC40	PLXND1	GATA4	UQCRFS1	GATA6	MAT2A	SMG8	SALL4	RRAS	GPC3	COX7B	CDC42	HRAS	RIT1	FANCC	CEP120	BCOR	FBN2	CDH2	MED27	EIF4H	HDAC4	APOB	FANCF	SIX3	CTU2	ERCC4	TTC26	LDLRAP1	FANCD2	PAH	RBM10	LIFR	FBLN5	PTCH1	LRRC56	KRAS	TUBG1	UMPS	FOXE3	SLC2A10	NODAL	ZIC3	RSPH1	RSPRY1	TRIP4	MYCN	RPL10	PACS1	PTEN	OFD1	COL1A2	NADSYN1	TGFBR2	ESCO2	EMC10	CRKL	ADK	MLX	LTBP1	IFIH1	TBX4	SEMA3E	CHST3	PTPN23	EHMT1	TRIP12	TPM3	HPGD	TSC1	NAA10	SOX2	SMARCB1	POLR1D	EFEMP2	CYP7A1	MAD2L2	SHANK3	MED13L	FANCA	ALG3	SKI	RPL27	TGFBR1	FANCB	SPTBN1	STIL	RSPH9	KDM6A	FBXW11	WDFY3	RPL35A	TCF20	RPS26	WNT4	CD96	JAG1	TTC37	TBX1	NKX2-5	ODAD3	TMEM94	POLA1	TELO2	PCSK9	ARID1B	RPS15A	IFT43	MEIS2	BCORL1	RLIM	DNAJB13	METTL27	RNU4ATAC	KCNN3	DHCR7	CREBBP	PIGN	MYH11	TGIF1	FLT4	CEP57	NPHP3	TMCO1	DYRK1A	DISP1	MYT1L	FTO	APOE	ESS2	FIG4	FADD	PKD1	PTPN22	GANAB	PLOD1	IDS	RPL15	NEDD4L	ADAT3	RSPO2	CADM3	CHRM3	PIK3R2	HCCS	DNAH5	GLI3	ADAR	DNAAF11	C2CD3	SPAG1	KCNH1	ODAD1	RBP4	TDGF1	ZMPSTE24	QRICH1	KMT2E	MEGF8	UBE3B	SIK3	MGP	RIPPLY2	FKBP6	PIGL	NSD1	HPDL	SMARCD1	DOCK6	HIBCH	OTUD5	CSGALNACT1	TSC2	CCDC65	ACTA2	DGCR2	USP18	GATA5	BUD23	WDR37	MYOCD	FANCE	DNAJC30	TCF7L2	PUS7	FLI1	SNX10	GDF1	IGBP1	CFAP53	SYNCRIP	ASCC1	VPS37D	AASS	SMAD4	EP300	AGO2	SMAD2	CCNQ	RPS19	COA6	PIGT	DNAJB11	SALL1	ARX	DLL4	CXCR4	SHH	MYLK	TMEM260	TRIP13	GJA5	TBX20	HYMAI	DVL3	KDM3B	COL1A1	HEY2	XRCC2	HNRNPK	THOC6	KAT8	KCNE5	SETD1A	ACTB	RNASEH2A	AGGF1	AFF4	TRIP11	CDK8	BRAF	LARS2	BRCA1	PORCN	CRELD1	PTPN11	GAS1	ZMYND10	SUPT16H	DRC1	RAI1	ALDH18A1	RAD21	FLNB	SNRPN	KDM4B	CTCF	RAF1	C12orf57	HGD	PSMD12	TALDO1	NIPA1	MYPN	ZMIZ1	ALG12	TBC1D24	RPS28	PRKCZ	AMER1	ZNF148	RPL35	EIF2AK3	LZTR1	MESP2	RIN2	ABCC9	RPL5	TNRC6B	FGFR3	UFD1	TFAP2B	COL3A1	HIRA	LMNA	MCIDAS	PALB2	MYRF	KCNAB2	FGFR1	ANKS6	WASHC5	ARFGEF2	CLCN7	FANCG	FGF10	FBN1	SOS1	ACTL6A	UBR7	NF1	PDPN	MAP3K7	NOTCH1	TAB2	RAB23	TGFB3	MAPK1	NRAS	SOS2	SEC24C	FGF8	EXT2	ARF1	TLL1	LTBP4	MASP1	WT1	HS2ST1	DNAAF6	ANKRD17	SMC3	RTL1	APC2	SRCAP	HSPG2	PKD1L1	G6PC3	ROBO4	ACVR2B	BAP1	SATB1	TGFBR3	SPEN	FOXC2	BPTF	FOXF1	NEK9	CCDC39	ENG	CCNO	GPC6	EIF2AK4	FOXJ1	SLX4	DNAAF5	NIPA2	RPGR	BAZ1B	MEG3	ADH5	FMR1	NOTCH2	RRAS2	UBE2A	DNAI2	ERCC8	CRTAP	ENPP1	SNX14	HLA-DRB1	CCDC22	SVBP	PCGF2	WDPCP	COQ4	KCNJ8	UBE2T	NOD2	TCIRG1	NKX2-6	GJA1	STRA6	TAOK1	SLC35A2	WASF1	ZMYM2	RPL31	NEK10	FOXH1	SF3B4	MED12	RFWD3	SON	ERCC6	RPS29	B3GLCT	RPL11	FLNA	MAP1B	DGCR8	TSR2	RREB1	DDX11	CLIP2	CBL	SH3PXD2B	GTF2IRD1	UNC45B	RBM8A	CWC27	HYDIN	COMT	PRKACB	CITED2	SFTPB	TRMT1	EOGT	GATA1	SKIV2L	RAD51	GBA	KANSL1	AMMECR1	GTF2I	NCF1	ARSL	DNAAF2	ROR2	DOCK3	NR2F2	SUCLG1	PEX19	POLR1C	RPL18	YY1AP1	GPC4	INTU	IGF2	ODAD4	DDX59	LOX	ARHGAP31	ALG9	SMARCA4	SLC29A3	ACTL6B	CHD7	CALM3	FANCL	COL5A2	RNASEH2C	DPYSL5	SMAD3	DNAH1	MID1	TSFM	PHGDH	CHD4	SLC25A24	SMC1A	WDR35	MAPK8IP3	MRAS	LDLR	BUB1B	KCNMA1	PPP2R1A	BCL7B	SMG9	FOXC1	MYH3	CFAP300	COL5A1	CHUK	ARID1A	TGFB2	WAC	ABL1	RPS10	WDR26	CDON	SOX11	MED25	PRDM16	ZIC2	MFAP5	NXN	DIS3L2	BRF1	STAG2	CCDC32	SNRPB	FKBP14	ARL6IP6	FANCI	ATP6V1B2	TPM2	KYNU	TRRAP	USP9X	SLC12A2	RFC2	FKTN	TKT	PRKG1	PKD2	DNAAF4	BICRA	SPRED2	GRIA4	ZFPM2	PLAGL1	TGDS	FGFR2	NONO	RAD51C	IL12B	TCOF1	TRAIP	PCNT	DLL3	ABCG8	BICC1	BMPR1A	DNMT3A	RPS24	ECE1	PPP1CB	GAS2L2	ADA2	MKKS	COG6	PEX1	DHCR24	SMARCA2	BUB1	TMTC3	RNF2	ODAD2	ANGPTL6	ZNF462	NTNG1	MMP21	GLI2	CHRNG	NSMCE2	PIGO	PRDM6	CNOT3	DLK1	BRCA2	TBX2	NEK8	GP1BB	AEBP1	PQBP1	CFAP221	MLXIPL	SRY	ABCD4	ARID2	HLA-B	MCTP2	ABCC6	MED13	TTC12	SPECC1L	DGCR6	LIMK1	VPS33A	CLCN3	RPS17	RPS7	CFAP298	VAC14	KAT6B	PUF60	KMT2D	GAS8	TP63	SIX6	DNAAF3	UBE4B	THSD1	LMX1B	WRN	ARVCF	KDR	ALX3	PGM3	RPS27	SPEF2	ZNF699	ABCG5	TANC2	BCL11B	RNASEH2B	SOX4	DDX6	NOTCH3	POLR1A	DNAI1	RSPH3	BMPR2	BCAS3	SETD2	SMARCC2	MADD	CACNA1C	SAMD9	RPS20	ACSL4	PGM1	PALS1	BMP2	RAC1	SMAD6	LFNG	NPR3	MMP23B	PTH1R	DNAAF1	TNFSF11	P4HA2	DPM1	SLC34A2	MGAT2	STXBP1	SMARCE1	SUFU	GNB2	DACT1	SLC37A4	MKS1	BUB3	TBL2	TRAF7	SAMHD1	GJA8	RASA2	MAF	FANCM	B3GALT6	ALX1	ADAMTS10	ANK1	STK36	NFIX	TMEM270	BRIP1	DYNC2LI1	DNAL1	NCAPG2	DPF2	HTT	B3GAT3	STX1A	ALB	RSPH4A	ERMARD	PLCB3	ALG8	COL18A1	NDUFB11	DNAH9	MYH7	CASZ1	POLR1B	LMBRD2	RPL26	JMJD1C	BCR	GTF2IRD2	DLL1	PRKCD	MAP2K1	NKAP	CCDC103	LUZP1	HES7	MRPS16	CFC1	MMP2	SSR4	IPO8	LEMD3	CARS1	GABRD	TBX5	DTNA	MMP14	HUWE1	DNAH11	RBPJ	TRAPPC4	NME8	TREX1	BGN	JARID2
HP_ABNORMAL_SYSTEMIC_BLOOD_PRESSURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SYSTEMIC_BLOOD_PRESSURE	TP53	TNPO3	ADD1	SMAD4	OFD1	TGFBR1	COMT	BNC2	CFH	CHCHD2	CDKN2B	CCDC28B	SUGCT	MAT2A	TXNRD2	LEPR	MT-ND5	GTF2I	KYNU	CTLA4	NCF1	SLC25A11	EXT2	PDE8B	SH2B3	TRPC6	CYP21A2	EIF4H	TCF4	MED12	CDKN1A	ACAT1	APOB	DZIP1L	AGT	YY1AP1	ABCB6	SDCCAG8	TTC26	LDLRAP1	IFT27	NPHP1	ATRX	MT-TK	HELLPAR	SCNN1A	ARHGAP31	ZMPSTE24	SLC2A10	DNMT3A	HSD3B2	BBS5	ALG9	NFKB2	DLST	IL12A	IFT74	BRCC3	USP8	CCN2	LRP6	ADA2	CEP290	MPI	CEP19	TGFBR2	DIS3L2	NOTCH1	DEF6	CLCNKB	SHPK	TREX1	PHF21A	LMNA	NTRK1	MLX	COL5A2	RET	THBD	RNU7-1	BBS7	VHL	CYP17A1	KIF1B	TSC1	TRIM28	ABCC6	SMAD3	IL12RB1	ABCD3	CAV1	GDF2	SMARCAL1	CASR	CDH23	WT1	DNAJB11	WDR35	CALR	CYP11B2	CYP11B1	LDLR	LEP	BCL7B	HLA-DPA1	NOTCH3	MT-ND6	PKD1	TGFB2	ALMS1	ACVRL1	CFI	NPHP4	OTX2	SFTPB	SNCA	PRKACA	NKX2-5	COL3A1	POR	ARMC5	PDE4D	STAT1	PCSK9	PRKAR1A	KCTD1	CPOX	TMEM127	POU3F4	COL4A4	METTL27	GJA1	MYH11	HMGCL	JAK2	RYR1	APRT	NOS3	CLCN2	FIG4	POU2AF1	DCDC2	ATP7A	SP110	PKHD1	GANAB	MT-TF	IDS	HSD11B2	HEXB	DBH	TRIM32	SLC12A1	HBB	REST	ELN	H19	DLL4	ENPP1	TNFRSF11B	TBX1	GBE1	SDHAF2	CD46	MT-TC	RFC2	CCR6	TET2	LHX4	FARSB	PRKG1	CORIN	ABCA3	PLIN1	FBN1	MGP	PKD2	COL1A1	KRT18	FKBP6	INVS	PAM16	MYMK	LYZ	PIGM	SLC30A10	KCNJ1	ACTN4	MYH7	FLT1	MT-CO1	COQ2	IRF5	GBA	SPIB	EDA	SDHB	POU6F2	DOCK6	GLIS3	EGFR	MKKS	TSC2	NR3C1	ERCC6	ITCH	BUD23	PDE3A	TRIP13	NPHP3	SDHD	TBX19	CYP11A1	HMBS	IL12B	AGTR1	DNAJC30	MT-CYB	NOD2	ABCB4	SDHC	ABCG8	BICC1	WDR19	LMX1B	BRCA2	RPGRIP1L	SAA1	SCNN1G	ARSA	GIGYF2	VPS37D	ECE1	FN1	ELP1	SRSF2	PRTN3	SMAD2	MT-TL1	AVPR2	NR3C2	OSGEP	ERCC8	EIF4G1	COL4A3	AIP	CFAP418	SCNN1B	MT-TE	KIT	ANGPTL6	FUZ	MEF2A	HLA-DPB1	NSMCE2	APOA1	MYLK	NFU1	PSAP	ACE	B2M	CACNA1D	GUCY1A1	LEMD3	NF1	DAXX	MDM2	DYRK1B	HEY2	KCNMB1	GLA	F5	GP1BB	HLA-DRB1	ASXL1	LARS2	CELA2A	ACP5	FGA	PPOX	IQCB1	EOGT	MT-TW	MLXIPL	TMEM67	GNB3	IRF4	HLA-B	G6PC1	IFT172	CFHR1	MT-TV	CEP164	MAX	BTNL2	LIMK1	XYLT1	STAR	CC2D2A	GSN	MMEL1	VAC14	BBS9	GCH1	GMPPA	INPP5E	CHRNA3	IDUA	SLC25A20	STN1	MAFB	THSD1	WRN	ARVCF	MPL	LRRK2	FOXA2	CBS	FGFR2	KRT8	C3	UFD1	DNAJC13	PTGIS	WNK1	ACTA2	BBS1	HESX1	ABCG5	MFAP5	SLC35A2	NEUROG3	VANGL1	SLC12A3	SERPINA6	KLHL3	SLC37A4	HIRA	NOTCH2	BMPR2	TJP2	ARL6	GNAS	XPNPEP3	NNT	PPARG	LIPA	SMAD6	MKS1	CYP3A5	STOX1	DDC	DHPS	INF2	MDH2	MT-CO3	GNA11	XYLT2	GNB2	BSCL2	TGFB3	SEC24C	TBL2	ALX4	ERCC4	MUC1	CYB561	PIGA	GIMAP5	PTPN22	RUNX1	CD2AP	LOX	MT-CO2	KCNJ5	MTRR	CLDN1	REN	PROP1	BBS12	WNK4	CACNA1H	TGFBR3	NFIX	TMEM270	BBS4	ENG	SIM1	SEMA4D	GATA5	DGUOK	LZTFL1	STAT2	MTTP	NDUFAF6	STX1A	ALB	GPC3	MC4R	LRIG2	CUL3	PRKAG2	CDKN1B	POU1F1	BAZ1B	FMR1	HMOX1	HGD	SCN2B	SCAPER	ITGA8	DCTN1	LMNB1	LBX1	MRAP	BBS10	TMEM70	CCND1	CFHR3	GPR101	JMJD1C	GTF2IRD2	PDE11A	GLI2	CBL	ACTG2	CFB	FMO3	HPSE2	MEN1	TNFRSF11A	GPR35	BBIP1	SPRY2	SOX3	BBS2	MST1	SPG11	WDPCP	VPS35	FH	FOXE3	COQ7	MMP2	TNFSF15	TTC8	COL4A5	COL5A1	MT-TS2	TTR	HFE	AAAS	SDHA	MMP14	ADAMTSL4	MT-TQ	MC2R	RREB1	TRAF3IP1	CDKN2C	EPAS1	CLIP2	RBPJ	TMEM237	GTF2IRD1	MT-ND1	EDA2R	KIF12	SERPING1	SFTPC
HP_POSTEXERTIONAL_MALAISE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTEXERTIONAL_MALAISE	COL9A2	COMP	COL9A1	SLC22A12	NPPA	KCNQ1	PYGM	KCNE1	SLC2A9	SVIL	SCN5A	COL9A3	PYGL
HP_CRYPTOZOOSPERMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CRYPTOZOOSPERMIA	SYCP2	CATIP	TEX15	TDRD9	NR5A1
HP_SCLEROSING_CHOLANGITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCLEROSING_CHOLANGITIS	RFX5	RFXAP	CIITA	RFXANK	KIF12	CD40LG	REL	ABCB4	DCDC2
HP_ACROPARESTHESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACROPARESTHESIA	SLC26A2	PRNP	SPTLC2	GALC	LMX1B	PMP22	COMP
HP_LINGUAL_DYSTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LINGUAL_DYSTONIA	GNAL	VPS13A	THAP1	ATP13A2	NGLY1
HP_ANKYLOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANKYLOSIS	MUSK	LMNA	ENPP1	MMP2	PTDSS1	POR	WNT7A	MBTPS2	ADGRG6	TNFRSF11B	PLCB4	GDF5	FGFR1	ZMPSTE24	FGFR2	TRPV3	GNAI3	NOG	GNAS	PERP
HP_ARTERIA_LUSORIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTERIA_LUSORIA	PLD1	DDX6	PIK3CD	NKX2-6	KNSTRN	PLXND1
HP_BONE_MARROW_HYPERCELLULARITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BONE_MARROW_HYPERCELLULARITY	PML	IRF2BP2	CXCR4	FASLG	ASXL1	NUMA1	FAS	STAT5B	BCOR	CALR	NPM1	PRKAR1A	FIP1L1	STAT3	PRKCD	CASP10	RARA	RPS14	SRSF2	NABP1	SLC7A7	RASGRP1	JAK2	TBL1XR1	MPL	TET2	ZBTB16	KIT	SRC
HP_CHRONIC_INFECTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_INFECTION	PML	IRF2BP2	RARA	RPS14	NABP1	TET2	PLEKHM1	BCHE	CARD9	NUMA1	STAT5B	BCOR	MAGT1	CLCN7	NPM1	SF3B1	TCIRG1	PRKAR1A	TBL1XR1	FIP1L1	HBB	ZBTB16	STAT3
HP_SPERMATOGENESIS_MATURATION_ARREST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPERMATOGENESIS_MATURATION_ARREST	RNF212	PNLDC1	STAG3	XRCC2	TERB1	TERB2	M1AP
HP_ACRAL_BLISTERING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACRAL_BLISTERING	COL7A1	PLEC	SMARCAD1	COL17A1	KRT5	KRT14	ITGB4	FERMT1
HP_IMPAIRMENT_OF_ACTIVITIES_OF_DAILY_LIVING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRMENT_OF_ACTIVITIES_OF_DAILY_LIVING	SACS	COMT	NOTCH2NLC	ALS2	BIN1	MYO1H	SLC2A1	BNC2	CDKN2B	CLCN4	ABCD1	HTRA1	FA2H	WASHC5	MNX1	FUZ	TBCD	FLVCR1	GABRG2	ZNF41	SCN9A	TYROBP	NOP56	GDI1	FTSJ1	TBP	ISL1	CDKN1A	ALDH18A1	TRIO	BAP1	TBX1	SBF1	TRPV4	CHRNA2	IGHMBP2	SMARCE1	ARSA	NF2	MYF6	ATP13A2	SLC20A2	NEFL	SPG7	KIF5A	ARVCF	TRAF7	KCNT1	COL2A1	NEXMIF	SLC9A7	SMO	MTMR14	UFD1	NIPA1	CLCNKB	CRKL	AP5Z1	CNKSR2	FAR1	GBA2	AKT1	SPTLC2	PSAP	TIMM50	DKK1	VANGL1	SLC12A3	HIRA	JRK	EIF2AK2	SLC1A4	ATXN8OS	DNMT1	ATXN10	DMD	CACNA1H	ZEB2	ARHGEF6	RTN2	PDGFB	KY	VANGL2	CCL2	COPB1	IQSEC2	TP63	NOTCH3	ACSL4	SMARCB1	C19orf12	PRDM8	ALMS1	FUS	SYP	GABRB3	CACNA1G	RETREG1	SUFU	SQSTM1	FARS2	ZNF711	DDHD2	GABRA1	TBXT	TSPAN7	HS6ST2	DACT1	MAPK1	MED12	SEC24C	TERT	COQ2	GALNT2	IFT57	PEX11B	USP9X	PIK3CA	SLC44A1	HEXB	ADNP	IL1RAPL1	PIGF	SPTLC1	DNM2	SIGMAR1	AUH	HMBS	KCND3	SCN4A	FMR1	VCP	ATL3	MORC2	UBAP1	CHMP2B	DLG3	CRH	MID2	CPT1C	ATL1	LRIG2	CDKN1B	PDCD1	CABP4	HSPD1	ACSF3	KCNC3	FRMPD4	ZFYVE26	ARX	DEPDC5	LMNB1	ALG13	RAB39B	PANK2	SYNE1	GALC	STEEP1	PLP1	SLC9A6	GBE1	CHRNA4	JMJD1C	BCR	SPG11	GJC2	HLA-DRB1	AGTR2	CAPN1	HPSE2	MEN1	HACE1	STUB1	COG5	UPF3B	RPS6KA3	DSTYK	SALL1	ZMYM2	TTR	CHRNB2	CFAP43	PTCHD1	PDGFRB	DPYSL5	USP27X	FITM2	RREB1	CDKN2C	ZNF81	HLA-DQB1	GP1BB	PAK3	MECP2	RYR1	SPAST	ZC4H2	HCFC1	CYP7B1
HP_ABNORMAL_OVARIAN_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_OVARIAN_MORPHOLOGY	FSHR	LMNA	MLXIPL	STK11	AR	SRY	BMP15	FGF17	AKT1	LEPR	DHH	DMRT1	IFT172	GTF2I	SOX9	SOX3	MT-CYB	NCF1	FOXL2	DCAF17	LIMK1	SPRY4	WT1	EIF4H	SDCCAG8	BBS9	IFT27	INSR	BBS5	LARS2	CHD7	IFT74	PHKB	MAP3K1	CEP290	PPARG	WDR11	CEP19	FGFR1	DUSP6	PHKG2	TP63	MID1	LHB	CAVIN1	GNRHR	BBS7	SDHD	CYP17A1	PTPN11	SLC37A4	CBX2	BNC1	POR	BSCL2	SDHC	LEP	AGPAT2	BCL7B	MKS1	STOX1	LMNB2	HNF1A	ALMS1	PAX6	SETBP1	NSMF	MCM8	PHKA2	PSMC3IP	F7	NUP107	NR5A1	PRKAR1A	PROKR2	ESR1	METTL27	TBL2	PPP1R12A	MRPS22	MSH3	NDNF	USF3	ZPR1	SEC23B	SPIDR	TACR3	VAMP7	TRIM32	ZFPM2	NR0B1	BBS12	GNAS	ELN	GATA4	TMEM270	POLR3H	MSX1	RFC2	BBS4	BBS1	C14orf39	PRLR	LZTFL1	CAV1	CORIN	SETD2	FKBP6	STX1A	OFD1	FLT1	FIGLA	PIK3CA	BAZ1B	ATM	MKKS	ERAL1	FGF8	PTEN	SCAPER	WWOX	KLLN	HS6ST1	BUD23	GNRH1	BBS10	PMM2	DNAJC30	PROK2	GTF2IRD2	FOS	KISS1R	DMRT3	ARL6	LIPE	VPS37D	BBIP1	BBS2	NTHL1	CYP11B1	WDPCP	CFAP418	MMP2	TTC8	KISS1	ANTXR2	TAC3	CYB5A	DHX37	HARS2	MMP14	CYP19A1	NPHP1	SDHB	ALG9	CLIP2	GTF2IRD1	PLIN1	NOBOX	CIDEC	AKT2
HP_ABNORMAL_OVARIAN_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_OVARIAN_PHYSIOLOGY	FASLG	EIF2B1	AIRE	EIF2B4	FOXL2	POF1B	BMP15	SPIDR	TACR3	STAG3	FGF17	PRKCD	DIAPH2	BNC1	FMR1	POLR3H	TWNK	CEP164	RASGRP1	DCAF17	SPRY4	C14orf39	PRLR	FSHB	INVS	EIF2B5	CDH23	GALK1	BMP4	TTI2	ZMPSTE24	FIGLA	NR5A1	LARS2	ERAL1	CHD7	CASP10	FGF8	XRCC2	RIN2	POLG2	BLM	WDR11	AARS2	HS6ST1	FGFR1	ANAPC1	GALT	NPHP3	GNRH1	LMNA	ATM	DUSP6	EIF2B2	GNRHR	POLG	WDR19	PROK2	FAS	HSF2BP	KISS1R	NBN	RCBTB1	SDCCAG8	B4GALNT1	AIP	ZFHX4	NPHP4	PMM2	KISS1	NPHP1	TAC3	NSMF	MCM8	PSMC3IP	GGPS1	MEN1	MCM3AP	NUP107	COL25A1	PROKR2	EIF2B3	THOC6	FSHR	TRAF3IP1	HFM1	MRPS22	NOBOX	CEP290	IQCB1
HP_ABNORMAL_ENDOCRINE_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ENDOCRINE_PHYSIOLOGY	PROP1	MOGS	GHRHR	KCNJ11	CYP17A1	UCP2	POR	ARMC5	GH1	LHX4	LHX3	TXNRD2	HESX1	NFKB2	GNAS	POU1F1	NNT	HNF1A	MC2R	RBM28	MRAP	STAR	ABCC8	MED12	SP110	PPOX
HP_ABNORMAL_RESPONSE_TO_ENDOCRINE_STIMULATION_TEST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RESPONSE_TO_ENDOCRINE_STIMULATION_TEST	MC2R	GHRHR	RBM28	CYP17A1	POR	ARMC5	GH1	MRAP	LHX4	STAR	TXNRD2	NFKB2	NNT	GNAS
HP_ABNORMAL_RESPONSE_TO_ACTH_STIMULATION_TEST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RESPONSE_TO_ACTH_STIMULATION_TEST	RBM28	CYP17A1	NFKB2	TXNRD2	POR
HP_ABNORMAL_RESPONSE_TO_INSULIN_TOLERANCE_TEST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RESPONSE_TO_INSULIN_TOLERANCE_TEST	MRAP	LHX4	STAR	MC2R	GHRHR	TXNRD2	GH1	NNT
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	MRAP	STAR	MC2R	TXNRD2	NNT
HP_ABNORMAL_RESPONSE_TO_GLUCAGON_STIMULATION_TEST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RESPONSE_TO_GLUCAGON_STIMULATION_TEST	KCNJ11	ABCC8	MED12	UCP2	HNF1A
HP_DECREASED_PREALBUMIN_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_PREALBUMIN_LEVEL	HLA-DQA1	CRLF1	FOXP3	HLA-DQB1	NOS1
HP_ABNORMAL_HUMERUS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HUMERUS_MORPHOLOGY	RSPO2	SRCAP	RNU4ATAC	GNPTAB	PRKG2	ATP7A	B3GALT6	SLC26A2	TMEM251	KIAA0753	COL2A1	FLNB
HP_ABNORMAL_THYROID_STIMULATING_HORMONE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_THYROID_STIMULATING_HORMONE_LEVEL	NKX2-1	PROP1	IRS4	PAX8	CDH23	TSHR	LHX4	LHX3	SMARCAL1	DUOX2	DUOXA2	DCAF17	SLC16A2	PDGFRB	HESX1	CPE	IGSF1	TSHB	POU1F1	SLC5A5	SECISBP2	TPO	TBL1X	SLC35A2	PMM2	IYD	THRB	ALMS1	TG	PSMB8	PRKAR1A
HP_DECREASED_THYROID_STIMULATING_HORMONE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_THYROID_STIMULATING_HORMONE_LEVEL	PROP1	HESX1	CPE	TSHB	POU1F1	LHX4	LHX3	TSHR
HP_ABNORMAL_CIRCULATING_INHIBIN_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_INHIBIN_LEVEL	SNRPN	MAGEL2	NDN	POR	OCA2	XRCC2
HP_ABNORMAL_CIRCULATING_ANTIMULLERIAN_HORMONE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_ANTIMULLERIAN_HORMONE_CONCENTRATION	C14orf39	AR	SPIDR	DHX37	XRCC2
HP_ABNORMAL_UTERUS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_UTERUS_MORPHOLOGY	FANCM	NRAS	SEC23B	CDC73	PIK3CA	STK11	CCNQ	SRY	TLR2	RAD51	RIPK4	POLE	POLD1	FH	MNX1	BAX	GATA3	SLC6A17	FANCC	BRIP1	COL4A6	FOXF1	BRAF	CDH1	MSH6	DYNC2I2	FRAS1	FANCF	PTPRJ	ERCC4	SLX4	INTU	AKT1	FANCD2	COL1A1	LRP2	MLH3	TP53	BUB1	MCC	LARS2	AXIN1	COL3A1	PLA2G2A	COL4A5	DCC	PTEN	TGFBR2	ITGA8	ESCO2	FLCN	KLLN	FGFR3	FANCL	RAD51C	COL5A2	BMPR1A	FANCE	SMAD3	EP300	THOC6	CCND1	PDGFRL	AURKA	MID1	DACT1	STAT6	PHGDH	BUB1B	MLH1	SDHD	CTNNB1	MSH2	PALB2	RARB	PTPN12	FREM2	UBE2T	RPS20	APC	SDHC	AXIN2	MAD2L2	FGFR2	STRA6	FANCA	HYLS1	SALL1	HOXA13	PMS2	NDP	NTHL1	FANCG	FGF10	RAD54B	TNXB	SEMA4A	TGFBR1	ALG9	MSH3	CHEK2	DYNC2I1	COL5A1	CXCR4	DLC1	SETBP1	HNF1B	SF3B4	RFWD3	GNB2	FLI1	SRC	IFT80	BRCA2	XRCC2	SDHB	DYNC2H1	NAB2	GRIP1	CDKN1B	DHCR7	CREBBP	PPP1R12A	PIGN	RPS6KA3	FANCB	BRCA1	SPECC1L	FANCI	WT1	USF3	WDR35	GREM1
HP_TRICEPS_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRICEPS_WEAKNESS	DOK7	RAPSN	DYSF	MUSK	CHRND	CHRNB1	CHRNE	SCN4A	AGRN	MYH7	LRP4	POMT1	JAG1	COL13A1	CHRNA1	MFN2	FBXO38	ADSS1	AK9
HP_RECURRENT_GASTROENTERITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_GASTROENTERITIS	MAN2B1	EGFR	BLM	ADAT3	CD3E	IRF9	DCLRE1C	VPS33A	SLC35C1	FOXP3	SP110	CD3G	ADAM17
HP_THINNING_OF_DESCEMET_MEMBRANE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THINNING_OF_DESCEMET_MEMBRANE	PITX2	PAX6	OVOL2	FOXC1	CYP1B1	FOXE3
HP_IMPAIRED_OROPHARYNGEAL_SWALLOW_RESPONSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_OROPHARYNGEAL_SWALLOW_RESPONSE	TSEN15	TSEN2	SEPSECS	NGLY1	TAF1	PLAA	GIPC1	BRAF	NOTCH2NLC	TSEN54	TSEN34	PMP22
HP_MULTIFOCAL_SEIZURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIFOCAL_SEIZURES	CDKL5	CARS2	TBCK	SMC1A	TFE3	GALNT2	PIGQ	TANGO2	WARS2	BRAT1	SLC13A5	PIGS
HP_POSTTERM_PREGNANCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTTERM_PREGNANCY	SNRPN	MAGEL2	NDN	OCA2	DUOX2
HP_NUCHAL_RIGIDITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NUCHAL_RIGIDITY	TLR3	TICAM1	CACNA1A	UNC93B1	PRRT2	IRF3	ATP1A2	TRAF3	TBK1	SCN1A
HP_WRIST_DROP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_WRIST_DROP	ACTA1	PLOD1	NF2	LDB3	CADM3
HP_ABNORMAL_CIRCULATING_PROGESTERONE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_PROGESTERONE_LEVEL	EIF2B1	EIF2B3	EIF2B4	HSD3B2	POR	CYP17A1	EIF2B5	FOXL2	EIF2B2	CYP11B1
HP_INAPPROPRIATE_ANTIDIURETIC_HORMONE_SECRETION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INAPPROPRIATE_ANTIDIURETIC_HORMONE_SECRETION	PROP1	MOGS	HESX1	POU1F1	LHX4	SP110	PPOX	LHX3
HP_ABNORMAL_RADIOACTIVE_IODINE_UPTAKE_TEST_RESULT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RADIOACTIVE_IODINE_UPTAKE_TEST_RESULT	PROP1	TPO	TSHR	LHX4	LHX3	DUOX2	DUOXA2	IYD	TRHR	TG	HESX1	TSHB	POU1F1	SLC5A5
HP_INTERNALLY_NUCLEATED_SKELETAL_MUSCLE_FIBERS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERNALLY_NUCLEATED_SKELETAL_MUSCLE_FIBERS	NOTCH2NLC	ACTN2	ANO5	RYR1	SQSTM1	TTN	LAMA2
HP_SWOLLEN_LIP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SWOLLEN_LIP	PLG	KNG1	HS3ST6	ANGPT1	MYOF	XPNPEP2
HP_PRODUCTIVE_COUGH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PRODUCTIVE_COUGH	HYDIN	SCNN1G	ZMYND10	DRC1	NUMA1	BCOR	DNAI1	CCDC40	RSPH3	MCIDAS	PRKAR1A	DNAH5	STAT3	STK36	CFTR	GAS2L2	RARA	CCDC103	ODAD2	DNAAF11	CFAP300	DNAAF2	SPAG1	ODAD1	DNAL1	TTC12	CCDC39	CCNO	RSPH9	TBL1XR1	SCNN1A	CFAP298	DNAAF1	FOXJ1	PML	IRF2BP2	NEK10	DNAAF4	ODAD3	ODAD4	STAT5B	DNAAF5	LRRC56	GAS8	RPGR	NPM1	RSPH4A	FIP1L1	RSPH1	DNAAF3	DNAH9	CCDC65	DNAJB13	NABP1	SCNN1B	OFD1	DNAH11	NME8	DNAI2	ZBTB16	CFAP221	SPEF2	DNAH1	DNAAF6
HP_ABNORMAL_SUBCLAVIAN_ARTERY_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SUBCLAVIAN_ARTERY_MORPHOLOGY	PLD1	DDX6	PIK3CD	CREBBP	NKX2-6	EP300	KNSTRN	PLXND1
HP_DELIRIUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELIRIUM	RYR1	MMACHC	PRDX1	SLC25A13	FIG4	MT-TE	ALAD	NAGS	DNMT1
HP_ABNORMAL_RENAL_CORPUSCLE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_CORPUSCLE_MORPHOLOGY	NF1	NPHS1	FASLG	IL12A-AS1	YRDC	FN1	MYO1E	MT-ND6	FCGR2A	IL12A	TBC1D8B	BSND	TRIM8	LPIN2	INF2	PRKCD	FAH	AMMECR1	G6PC1	MT-ND3	NUP133	CTLA4	SLC25A11	COPA	SMARCAL1	TRPC6	VHL	WT1	MT-TW	NUP85	PGM3	HLA-B	GATA3	PLCE1	KIRREL1	ERAP1	MT-TH	PAX2	PTPRO	DNMT3A	NUP107	DLST	CASP10	C1QA	MT-CO1	WAS	MT-ND1	COL4A3	MAGI2	CLCNKB	VPS33A	TREX1	STAT4	UBAC2	RNU7-1	DAAM2	CD81	SLC12A3	MEFV	TPRKB	CFI	EMP2	MME	SGPL1	ANLN	ACSL4	WDR73	MT-TF	OCRL	HLA-DPA1	JAK1	SLC37A4	LMNB2	ALMS1	APOL1	NPHS2	NUP37	MMACHC	MDH2	ITGB4	MT-CO3	SDHB	PLEC	TP53RK	CCR1	HNF1B	MT-CO2	KIF1B	JAG1	ELP1	CRB2	MT-TL1	COL4A4	LAMB2	NUP205	MUC1	NPHP3	CFH	PTPN22	NUP160	C4A	GAPVD1	CD2AP	RET	ARHGDIA	MT-TK	MTRR	SLC12A1	SLC41A1	FOXP3	APOE	FOXC2	TLR4	SDHAF2	FCGR2B	DNASE1L3	RASGRP1	IL10	CEP83	MT-TS2	LMX1B	NUP93	CLCN5	NOS1AP	KCNJ1	ACTN4	MMP1	COQ2	SDHC	COL7A1	WIPF1	WDR19	REN	MT-ND5	LMNA	MYOCD	MT-TV	ITGA3	MT-ATP6	C3	COQ8B	SEC61A1	FAS	MTX2	CFHR5	IFNGR1	LAGE3	MT-ND2	DGKE	ZAP70	SPRY2	PRTN3	SOX18	DNASE1	MT-ND4	SCARB2	C1QB	MAX	OSGEP	FH	AVIL	MT-TE	GON7	ADA	SOCS1	HLA-DPB1	KLRC4	COL4A5	ZNFX1	COQ6	SDHA	ARHGAP24	IL23R	TMEM127	ANKFY1	EPAS1	SLC7A7	KCNE5	GLA	SDHD	MT-TQ	NARS2	C1QC
HP_ABNORMAL_BOWMAN_CAPSULE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BOWMAN_CAPSULE_MORPHOLOGY	DAAM2	EMP2	AVIL	YRDC	SLC41A1	KIRREL1	NOS1AP	ZAP70
HP_SHOCK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHOCK	DSP	MYL2	SCNN1B	JUP	TRDN	RPL3L	SCNN1A	SCNN1G	NAA10	DAXX	ATRX
HP_HYPOVOLEMIC_SHOCK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOVOLEMIC_SHOCK	DSP	SCNN1B	JUP	SCNN1A	SCNN1G
HP_FLUSHING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FLUSHING	NF1	APC2	RUNX1	HPGD	MAOA	RET	ADGRE2	CBL	ATP1A2	CDH23	SETD2	SRSF2	SDHAF2	SLC25A11	ATP1A3	MAX	NPRL2	VHL	RYR1	FH	CACNA1A	SLC1A3	KIT	MDH2	TET2	SDHB	ASXL1	SCN9A	KIF1B	DEPDC5	DNMT3A	SDHA	DLST	NPRL3	USP8	TMEM127	SDHC	HNF4A	EPAS1	SDHD	ALDH2	NSD1
HP_ABNORMAL_PERIFOLLICULAR_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PERIFOLLICULAR_MORPHOLOGY	KRT81	KRT86	MBTPS2	LRP1	KRT83	HLA-DRA
HP_CUTANEOUS_ABSCESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CUTANEOUS_ABSCESS	PGM3	PSEN1	TGFB1	CYBC1	BTK	PSENEN	GJB2	IL17RA	IL10RB	IKBKB	GJB6	UBE2A	CTSC	RIPK1	MPEG1	IL10RA	CARMIL2	ELANE	IKZF3	LCP2	MNX1	IL6R
HP_INTERSTITIAL_CARDIAC_FIBROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTERSTITIAL_CARDIAC_FIBROSIS	FLNC	TNNT2	KIF20A	DOLK	RPL3L	TNNI3	MYPN
HP_ABNORMAL_CARDIOMYOCYTE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CARDIOMYOCYTE_MORPHOLOGY	RYR1	CACNA1S	DSP	DOLK	RPL3L	ACTN2	GYG1	PNPLA2
HP_VEGETATIVE_STATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VEGETATIVE_STATE	TTC26	NHLRC1	PSAP	ABCD1	ISCA2	ARSA	PLA2G6	EPM2A
HP_ECCHYMOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECCHYMOSIS	STX11	NUMA1	P2RY12	BCOR	TERT	PRKAR1A	CDH23	GBA	STAT3	ITGB3	PRF1	ITGA2B	F13B	RARA	TERC	CHST14	GP6	GP1BB	TBXA2R	IFNG	GGCX	JAK2	TBL1XR1	USP8	SBDS	TET2	STXBP2	AIP	GFI1B	F13A1	COL5A1	PML	IRF2BP2	COL1A1	GP1BA	STAT5B	CALR	UNC13D	NPM1	ITGA2	FIP1L1	COL3A1	CD109	NABP1	F2	COL5A2	MPL	ZBTB16	GIMAP5
HP_MACULAR_PURPURA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACULAR_PURPURA	STX11	ETHE1	ITGA2B	NUMA1	WAS	P2RY12	BCOR	TERT	PRKAR1A	CDH23	GBA	STAT3	ITGB3	ETV6	PRF1	SAMD9	F13B	RARA	TERC	CHST14	GP6	GP1BB	TBXA2R	IFNG	GGCX	JAK2	TBL1XR1	USP8	FYB1	SBDS	TET2	STXBP2	OCLN	AIP	GP1BA	GFI1B	APOE	LCP2	F13A1	COL5A1	PML	IRF2BP2	GATA1	FERMT3	COL1A1	CASP10	STAT5B	CALR	UNC13D	TREX1	NPM1	RAB27A	ITGA2	FCGR2C	FIP1L1	COL3A1	CLCN7	NEU1	CD109	NABP1	GP9	USP18	PEPD	WIPF1	F2	COL5A2	MPL	ZBTB16	GNA14	GIMAP5	HOXA11
HP_METAPHYSEAL_STRIATIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METAPHYSEAL_STRIATIONS	MTAP	PISD	PORCN	KIF22	RECQL4	ADA	AMER1	TONSL	ANAPC1	WDR26
HP_INTESTINAL_PERFORATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTESTINAL_PERFORATION	TYMP	B2M	POLG	GATA6	C1R
HP_ANKLE_WEAKNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANKLE_WEAKNESS	DOK7	RAPSN	MUSK	CHRND	TTN	CHRNB1	CHRNE	SCN4A	LDB3	AGRN	LRP4	COL13A1	BSCL2	CHRNA1	MATR3	AK9
HP_ABNORMAL_CELL_PROLIFERATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CELL_PROLIFERATION	PGM3	CD27	NSMCE3	TGFB1	CIITA	IL2RG	ZAP70	CTPS1	REL	MGAT2	CD3E	RFX5	JAK3	RFXANK	CD3D	RAG2	IL2RA	RAC2	PIK3CD	CD247	WIPF1	EXTL3	MRTFA	DEF6	KNSTRN	IL7R	PNP	RASGRP1	RFXAP	LCP2	SYK	RAG1
HP_ABNORMAL_T_CELL_PROLIFERATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_T_CELL_PROLIFERATION	PGM3	CD3E	NSMCE3	RASGRP1	TGFB1	RAG2	WIPF1	CTPS1	LCP2	MRTFA	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	CD27	CIITA	RAC2	PIK3CD	CD247	IL2RG	ZAP70	EXTL3	MGAT2	CD3E	KNSTRN	IL7R	PNP	RFX5	RASGRP1	JAK3	RFXAP	RFXANK	CD3D	RAG2	IL2RA	SYK	RAG1
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	PIK3CD	IL2RA	JAK3	KNSTRN
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	PGM3	FASLG	IL2RG	NSMCE3	CIITA	LCK	WAS	FAS	OTULIN	MYC	ITK	RFX5	ATP6AP2	RFXANK	EPG5	HLA-DPB1	LEPR	LEP	PRKCD	CASP10	LAT	PIK3CD	BLM	UNC119	RASGRP1	IVNS1ABP	EXTL3	SMARCAL1	TOM1	DEF6	IKBKB	KNSTRN	MAGT1	IL7R	ATM	RFXAP	CD4	LCP2
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	PGM3	FASLG	IL2RG	NSMCE3	BLM	WIPF1	ZAP70	WAS	FAS	RASGRP1	EXTL3	IKBKB	IL7R	CD8A	PRKCD	CD3G	CASP10
HP_ABNORMAL_CD4_CD8_RATIO	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CD4_CD8_RATIO	PGM3	CIITA	AP3B1	UNC119	CTPS1	DEF6	MAGT1	RFX5	WDR1	RASGRP1	RFXAP	RFXANK	IL2RA	CASP8	ZAP70
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	FASLG	FAS	FOXP3	RASGRP1	CASP10	PRKCD
HP_REDUCED_ANTIGEN_SPECIFIC_T_CELL_PROLIFERATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_ANTIGEN_SPECIFIC_T_CELL_PROLIFERATION	PGM3	NSMCE3	RAG2	CTPS1	LCP2	RAG1
HP_IMPAIRED_ANTIGEN_SPECIFIC_RESPONSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_ANTIGEN_SPECIFIC_RESPONSE	CD70	IGKC	PGM3	FASLG	CD81	NSMCE3	ALG12	WAS	FAS	CTPS1	REL	ICOS	CARD11	RIPK1	CD19	TNFRSF13C	HYOU1	RAG2	PIK3CD	IL2RA	PRKCD	ZAP70	CASP10	RAC2	IGHG2	COG6	CR2	RASGRP1	KNSTRN	MAGT1	IRF2BP2	PMM2	CD247	SLC35C1	LRBA	ADA	CARMIL2	CASP8	LCP2	TNFRSF13B	RAG1
HP_INCREASED_PROPORTION_OF_CD25_MAST_CELLS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_PROPORTION_OF_CD25_MAST_CELLS	ASXL1	RUNX1	LYST	TET2	SRSF2	CBL
HP_ABNORMAL_CHROMOSOME_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CHROMOSOME_MORPHOLOGY	RTEL1	MDM4	ZCCHC8	TERT	PARN
HP_HIGH_SERUM_CALCITRIOL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIGH_SERUM_CALCITRIOL	SLC34A3	CLCN5	VDR	SLC34A1	KL
HP_ABNORMAL_NASAL_MUCUS_SECRETION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NASAL_MUCUS_SECRETION	CCDC40	SDHD	ODAD1	DNAH1	CCDC39	SREBF1	LRRC56	SCN9A
HP_INCREASED_BODY_MASS_INDEX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_BODY_MASS_INDEX	FLT1	THOC2	THRA	CORIN	STOX1
HP_ABNORMAL_CIRCULATING_OSTEOCALCIN_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_OSTEOCALCIN_LEVEL	FN1	COL2A1	FAM20A	SLC34A3	AVP	SLC34A1
HP_ABNORMAL_SPEECH_PROSODY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SPEECH_PROSODY	MT-TL1	FBXO7	SNCA	GRIN2A	GBA	GIGYF2	SRPX2	MT-ND2	MT-TK	MAPT	MT-ND5	MT-ND3	LRRK2	MT-ND4	CWF19L1	MT-TW	EIF4G1	VPS35	DNAJC13	FOXP2	MT-TV	MT-ATP6	MT-ND6	MT-ND1
HP_MONOTONIC_SPEECH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MONOTONIC_SPEECH	EIF4G1	VPS35	DNAJC13	GBA	GIGYF2	FBXO7	LRRK2	SNCA	CWF19L1
HP_PREGNANCY_EXPOSURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREGNANCY_EXPOSURE	TP63	MME	MSX1	IRF6	SERPINC1	NECTIN1
HP_EROSION_OF_ORAL_MUCOSA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EROSION_OF_ORAL_MUCOSA	COL7A1	LAMB3	KRT14	DSG3	MMP1	LAMC2	LAMA3	KRT5
HP_SOFT_TISSUE_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SOFT_TISSUE_NEOPLASM	STAT6	NAB2	PDGFRB	APC	NOTCH3	COL4A6	COL4A5
HP_IMPAIRMENT_IN_PERSONALITY_FUNCTIONING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRMENT_IN_PERSONALITY_FUNCTIONING	TP53	NTNG2	TARDBP	MECP2	DCPS	DRD2	NCDN	CDKN2B	HSPG2	LARP7	CHCHD10	TGIF1	PDE8B	VCP	GABRA1	PTCHD1	CDH2	PHF21A	MED27	EIF4H	PRNP	SIX3	NDUFA10	CHRNA2	PTCH1	MT-TN	TWNK	SMARCE1	HTT	CDON	DLST	FGFR1	MT-CO1	C19orf12	TRAF7	KCNT1	MT-ND1	EMC10	POLG	CRKL	SLC18A2	TREX1	RIMS2	SMC3	CC2D1A	ARV1	PTPN23	GNRHR	PSAP	TRIP12	SQSTM1	TSC1	PSEN1	IRF6	CASR	CDH23	FMN2	DNMT1	ATP1A2	STIL	PDGFB	MT-TF	GALC	CLCN3	SCN2A	TOMM40	PET100	ATP1A3	NODAL	SPTBN1	NOTCH3	TBK1	FBXW11	WDFY3	PLA2G6	TCF20	PDGFRB	MAPT	SPG21	PRKACA	UBA5	NSMF	SOX5	EPCAM	ZIC2	DCTN1	ARMC5	POLG2	AMT	TUSC3	GABRD	BCORL1	DISP1	RLIM	XK	MT-TL1	TERT	METTL27	GABRB2	CREBBP	PGK1	MTPAP	NSUN2	TMCO1	GRN	DYRK1A	MYT1L	LRRK2	SNCA	VHL	MATR3	PIK3CA	PTPN22	SPEN	PRKN	ADAT3	SCN1A	CHD8	RAD21	NDUFV2	NDUFA4	GNAS	ELN	TBX1	GLUD2	SDHAF2	SLC1A2	FMR1	AP2S1	KCNA2	AARS1	VPS13C	TDGF1	ARSA	KMT2E	CHMP2B	MSH2	OCA2	NDUFAF2	FKBP6	BRD4	FGF8	CSF1R	UBE3A	PON3	HPDL	COMT	GBA	SDHB	ACTL6B	RET	PDCD1	CABP4	TSC2	RAI1	GAS1	HCN1	CDKL5	BUD23	SDHD	NDUFA12	HMBS	DNAJC30	FGF14	SCN9A	GLI3	TCF7L2	ADCY5	PHIP	PUS7	TLK2	SDHC	DLL1	HDAC8	FLI1	VPS13A	BCL11B	NR4A2	SYNCRIP	VPS37D	GRIN2A	DEAF1	EP300	GABRA5	C9orf72	AGO2	IGF1R	PTS	ST3GAL3	STUB1	CBS	CUX2	SLC1A3	ANXA11	CCNF	CNKSR2	TP63	MED23	PARS2	NTRK1	SHH	KISS1	IQSEC2	PGAP1	NECAP1	SETD5	PSAT1	ANG	CLTC	FLT4	ECHS1	TAF1	KNL1	CLCN4	TMEM127	STX16	GABBR2	KAT8	GLA	SETD1A	VAPB	CACNA1G	SLC19A3	COX15	UBQLN2	SPAST	KCNJ2	NF1	MT-ND6	CACNA1A	FGF17	CEP85L	NOVA2	SNRPN	ABCA7	KDM4B	AIP	TSHB	SLC6A17	LGI1	GABRG2	AFF2	STAG2	PCDH19	PINK1	TBP	NKX2-1	GSN	LAS1L	MT-TW	TRAPPC9	GM2A	GCH1	RRM2B	FIG4	GABRA2	IDUA	MLH1	CYP27A1	NECTIN1	TNRC6B	WDR11	NEXMIF	GLI2	UFD1	FTL	GABRB3	MAMLD1	DNAJC13	ADGRV1	TACO1	ARID2	EIF2B2	PFN1	HLA-DQB1	VANGL1	HLA-DQA1	HIRA	ATXN10	ALAD	FRRS1L	CACNA1H	AOPEP	OCRL	PIGS	SEMA4A	SMARCB1	DDC	ACTL6A	TANC2	MSTO1	MDH2	MT-CO3	GNA11	SUFU	EPHA4	SGCE	MYO7A	PMS2	MAPK1	LINS1	TMEM106B	SEC24C	HIVEP2	UBE4A	TTC19	EZR	PAH	HS2ST1	ANKRD17	CFAP410	ARSG	APC2	RSRC1	TBC1D2B	SRCAP	SYNGAP1	SMPD1	ABCB4	SATB1	MT-TT	AMACR	NIPBL	TAF15	CELF2	USP7	VPS16	BPTF	WHRN	GATAD2B	ACSL4	KMT2A	MT-TS2	CTSF	XPR1	PHGDH	SATB2	CISD2	CDKN1B	BAZ1B	BAP1	SLC12A2	MAN2B1	UQCRC1	KPTN	HNRNPA1	RNF168	HS6ST1	MT-ND5	PON2	PANK2	HTRA1	CHRNA4	GPR101	SCN1B	PROK2	SLC45A1	MAOA	FUS	PDE11A	HLA-DRB1	B3GALNT2	SVBP	ATXN2	YWHAG	KDM5B	ATP7B	GRIK2	HTRA2	FMO3	TRHR	CRADD	GPR35	HEPHL1	MED12L	ALKBH8	SPG11	FH	WASF1	RORA	B4GALNT1	FGF13	NFIX	ADSL	USH1G	WFS1	FUZ	MAN1B1	FOXG1	ESPN	FOXH1	SDHA	WDR62	NDUFS1	UNC13A	DHDDS	PCDH15	EIF2B3	RREB1	CDKN2C	CLIP2	PRKCG	CLN6	GTF2IRD1	TREM2	SPECC1L	SPART	DALRD3	YY1	ZMIZ1	SLC6A19	TRMT1	NDUFA13	KANSL1	LEPR	PARK7	GTF2I	NCF1	SLC25A11	DOCK3	SCN3A	NTRK2	TCF4	CDKN1A	SZT2	NHLRC1	NDUFS2	MT-TL2	MT-TH	DNMT3A	FOXRED1	MEN1	SURF1	CHD7	FTSJ1	USP8	PDE10A	GALT	DPYSL5	C12orf4	DUSP6	WAC	TBCK	JRK	RPS20	MAPK8IP3	KCNMA1	NTNG1	BCL7B	SLC35C1	NDUFS4	KCNB1	NDP	PPM1D	SYNJ1	HNMT	TBC1D7	ATP10A	DNAJC6	SLC25A4	MED12	PODXL	MT-CO2	SMC1A	ATRX	KIF1B	HARS1	CPOX	LMAN2L	PER3	USH2A	GRIN2D	CCDC32	MAGEL2	PDE2A	GCSH	NDUFS8	KCTD17	SLC6A4	EIF2B1	EIF2B4	PRKAR1B	TACR3	CHD2	CLIP1	EHMT1	MLH3	CLN3	ASH1L	PON1	EEF1A2	SOD1	TGFBR2	RFC2	WASHC4	NDUFA9	UBR7	EIF2B5	STEEP1	PRR12	KRAS	SLC39A4	PPT1	GRIA4	COQ2	NAA20	FA2H	FOXP1	NR3C1	COQ5	TECR	FBXO31	PER2	ATP2A2	NONO	NEK1	TK2	NFASC	CLTRN	PPP2R2B	PRKAR1A	SLC2A3	PPARGC1A	PRSS12	AFG3L2	CYFIP2	FLII	HNRNPH2	KISS1R	ABCB11	GIGYF2	SLC13A5	DNA2	ELP1	PPP1CB	DNM1	ATP13A2	TOR1A	METTL23	BMPR1A	EIF4G1	SETD1B	RNF2	NDUFS7	PDHA1	BSND	FAN1	EDC3	DGUOK	TAC3	ATP8B1	PSMD12	CNOT3	NDUFA2	SCN8A	PURA	MT-ND4	GP1BB	BCS1L	SRPX2	ERBB4	PQBP1	AP3B2	SARDH	PPOX	MBD5	MLXIPL	PSEN2	HSD17B10	PRPH	SLC2A1	IRF4	MED25	PIGC	ALG14	HLA-B	ZC3H14	MED13	TYROBP	GDAP2	LIMK1	SPRY4	OPTN	DEPDC5	NFIB	NDUFAF5	NR1H4	SARS1	SLC7A6OS	NUS1	GLE1	NF2	DLAT	SLC20A2	ARVCF	SMO	SNCAIP	RNF125	NDUFV1	CDK19	APP	UBTF	DDB1	NSD1	AKT1	IQSEC1	DDX6	CHRNA7	BCAS3	SETD2	ATXN8OS	MADD	EPM2A	PALS1	TET3	TUBB3	MBOAT7	KIF15	COL7A1	P4HA2	CRBN	GRM7	CACNA1B	TTC5	GNB2	DAO	TMEM240	PROKR2	TBL2	ALDH4A1	SORL1	PRRT2	AP1G1	IL1RAPL1	CIZ1	GLDC	WWOX	ADNP	TNIK	RPS6KA3	NDUFAF6	THOC2	NDUFS3	TMEM270	SEMA4D	CLN5	NAGS	PPP3CA	MIR17HG	JPH3	CRH	GLT8D1	PMS1	UFSP2	ZBTB20	STX1A	ATP6V1A	NDST1	COASY	LIPT1	TRAK1	MMP1	CLCNKB	MTFMT	AARS2	LMNB1	GNRH1	LMBRD2	SLC9A6	USH1C	CEP78	CEP152	JMJD1C	RELN	BCR	GTF2IRD2	AR	CIB2	ADH1C	MSH6	DPH1	FGF12	MST1	MAX	AIMP1	VPS35	NEFH	CHRNB2	STX1B	DNAJC5	CARS1	ALDH5A1	CLRN1	UCHL1	HUWE1	PAK3	ALG9	MAPK10	EPAS1	TRAPPC4	NEMF	SUGCT	MT-TQ	PDZD7	MSX1	JARID2	CLCNKA	HTR2A
HP_LOW_SELF_ESTEEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_SELF_ESTEEM	TP63	JRK	GABRG2	FMO3	MSX1	IRF6	SLC2A1	NECTIN1	GABRA1	CACNA1H	GABRB3
HP_STATUS_EPILEPTICUS_WITHOUT_PROMINENT_MOTOR_SYMPTOMS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STATUS_EPILEPTICUS_WITHOUT_PROMINENT_MOTOR_SYMPTOMS	SCN1A	ADGRV1	SCN1B	GABRG2	ODC1	SCN9A	STX1B	CDKN2B	SCN2A	CDKN1B	GRIN2A	MEN1	GABRD	CDKN2C	HCN1	PCDH19	GABRA1	CHD2	CDKN1A	ADORA2A
HP_ABNORMAL_MITRAL_VALVE_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MITRAL_VALVE_PHYSIOLOGY	FLNC	IL12A-AS1	ELN	MLXIPL	TGFB3	IL12A	POLG	MYPN	ALDH18A1	PYROXD1	AKT3	PIK3R2	LMNA	MYL2	TNNT2	ADAMTS10	G6PC3	TBX20	AIP	FBN1	SMAD4	MCTP2	TMEM270	GTF2I	TLR4	NCF1	CTCF	SCO2	RFC2	SURF1	RAF1	IL10	HADHA	LIMK1	FBN2	XYLT1	EIF4H	VPS33A	DCHS1	APOB	NKX2-5	HCCS	EXOSC5	SYT2	LDLRAP1	HLA-B	CHST3	COL1A1	FKBP6	HADHB	STX1A	IRX5	ERAP1	NOTCH1	DSE	LOX	ZMPSTE24	LZTR1	ZNF148	CITED2	RSPRY1	BAZ1B	MAN2B1	CRYAB	LTBP2	TPM1	KIF20A	COL1A2	MAP3K7	NOTCH2	BUD23	UBE2A	IDUA	COL5A2	STAT4	SMAD3	FAR1	DNAJC30	UBAC2	MYH6	ACTC1	ABCG5	GPR101	ABCG8	SGO1	PLD1	GTF2IRD2	DNMT3A	TNNI3	MTX2	GBA	IFNGR1	MEFV	NF1	CCND2	PRDM16	VPS37D	FHL1	RPL5	LDLR	GATA6	PPP1CB	GJA1	CBL	SDHD	C4A	NKAP	BCL7B	B3GALT6	HEPHL1	BANF1	FBLN5	RIT1	ABCC6	PKD1	RPL3L	HAAO	ALPK3	KLRC4	COL5A1	CLIC2	DZIP1	GATA4	ANKRD11	COX7B	SOX5	SKI	AGA	NDUFS2	XYLT2	CCR1	NDUFB8	PCSK9	DTNA	FLNA	TLL1	IL23R	NDUFB11	METTL27	TBL2	CLIP2	GLA	MAPK1	NDUFAF3	FAS	GTF2IRD1	RPS6KA3	FHOD3	BGN	PDSS1	ADAMTSL2	GNPTAB
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	TRIM8	GRIN2A	SRPX2	FRRS1L	CNKSR2
HP_ABNORMAL_CIRCULATING_T4_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_T4_LEVEL	PROP1	MAGEL2	NDN	TSHR	OCA2	LHX4	TRHR	LHX3	SNRPN	DUOX2	DUOXA2	HESX1	TSHB	POU1F1	SLC5A5	TPO	IYD	ALMS1	TG	SECISBP2
HP_ABNORMAL_THYROID_HORMONE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_THYROID_HORMONE_LEVEL	PROP1	IRS4	MAGEL2	NDN	MADD	TSHR	OCA2	LHX4	TRHR	LHX3	SNRPN	DUOX2	DUOXA2	THRA	HESX1	CPE	THRB	TSHB	POU1F1	SLC5A5	TG	TPO	USP9X	TBL1X	IYD	ALMS1	SECISBP2
HP_SUBRETINAL_FLUID	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBRETINAL_FLUID	ZNF408	CFI	EFEMP1	LRP5	CFH	CTNNB1	BEST1	TSPAN12	FZD4	NDP
HP_SUBRETINAL_DEPOSITS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBRETINAL_DEPOSITS	KIAA0586	CSPP1	C1QTNF5	CYP4V2	TIMP3
HP_INCREASED_THETA_FREQUENCY_ACTIVITY_IN_EEG	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_THETA_FREQUENCY_ACTIVITY_IN_EEG	SETD1B	KCNT1	CRH	CHRNB2	KCNQ3	CHRNA2	DEPDC5	CABP4	CHRNA4	KCNQ2	RPL10
HP_ABNORMAL_DERMOEPIDERMAL_JUNCTION_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DERMOEPIDERMAL_JUNCTION_MORPHOLOGY	DSP	LAMB3	PLEC	COL17A1	ITGA6	JUP	ITGB4	ZAP70	LAMC2	LAMA3
HP_CARDIAC_CONDUCTION_ABNORMALITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIAC_CONDUCTION_ABNORMALITY	SCN5A	GPC3	MT-TL1	GABRA3	AGXT	DMPK	MT-ND6	ABCC9	MYBPC3	TMEM43	LRP1	SCN1B	TBX20	GNB2	SCN4B	MYOZ2	NKX2-5	LMNA	SLC4A3	MT-ND3	BRAF	DES	MT-CYB	JUP	SCO2	DYSF	GNB5	SEMA3A	SURF1	NPPA	BTNL2	AKAP9	SDHB	SDHA	MT-TS2	KCNJ2	SELENON	CACNA1S	SCN10A	EXOSC5	MT-TW	CASQ2	CACNA2D1	EMD	KCNQ1	TTR	PKP2	GJA5	ACTN2	GPD1L	RNASEH1	TTN	HCN4	CREBBP	LDB3	TRDN	MT-TH	GYG1	PTPN11	MYH7	KCND3	CITED2	MT-TK	PEX7	MT-CO1	SYNE2	CALM3	KCNJ5	MT-ND1	CALM1	RRM2B	DEF6	ATP6V1A	MT-ND5	ACADVL	RMRP	PRKAG2	TRPM4	MT-TV	MYH6	ACTC1	PRKG2	MT-ATP6	ACTA1	SGO1	SCN2B	RYR2	POMT2	CACNB2	ATP1A2	MT-ATP8	PLEC	MT-ND2	CTNNA3	GATA6	PPP1CB	EP300	CACNA1D	MT-TF	KCNH2	ATP6V1E1	CACNA1C	SCN3B	KCNE3	FHL1	BANF1	MT-ND4	KCNJ18	GNAI2	ATP1A3	SCNN1A	TNNC1	CACNA1A	KCNE5	MMP2	SLC1A3	PIGU	SLMAP	GPC4	SYNE1	MT-CO3	GATA4	MYL2	NDUFS2	SLC25A20	MT-CO2	NDUFB8	TNNI3K	RAF1	TBX5	GPX4	BVES	MMP14	SDHAF1	TLL1	CDH2	LEMD2	GJA1	SDHD	GLA	RANGRF	CPT2	NDUFAF3	HLA-DRB1	PHYH	KCNJ8	MT-TQ
HP_ABNORMAL_QT_INTERVAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_QT_INTERVAL	GPC3	KCNE1	NOS1AP	GABRA3	CDC73	SCN5A	SRY	SLC12A3	KCNJ5	KCNA5	CDKN2B	GNAS	CALM2	SCN4B	ALG10B	CACNA1C	MEN1	PHOX2B	SLC4A3	KCNQ1	AKAP9	KCNH2	TBX5	CAVIN1	SNTA1	CALM1	BPTF	KCNJ18	MECP2	RYR1	TANGO2	KCNJ2	CDKN1A	CACNA1S	CALM3	TRDN	ALPK3	GPC4	CACNA2D1	TECRL	CACNB2	SCN10A	PSMD12	TNNI3K	CDKN1B	ANK2	DNAJC19	CAV3	GMPPB	KCNE2	STX16	CDKN2C	CLCNKB	ACADVL	TRPM4	DPAGT1	SVIL	HADH
HP_ABNORMAL_AORTIC_VALVE_CUSP_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_AORTIC_VALVE_CUSP_MORPHOLOGY	SMC3	MLXIPL	TGFBR1	SRY	SMAD6	LOX	RAI1	SKIV2L	GATA5	MAT2A	BCAS3	ROBO4	KANSL1	ELN	TAF2	MCTP2	TMEM270	GTF2I	NCF1	RFC2	FOXF1	MYH11	PPP2R5D	LIMK1	FBN2	EIF4H	PRKG1	B3GAT3	FKBP6	BBS2	CREBBP	ACTA2	STX1A	NOTCH1	ARHGAP31	BAZ1B	SNIP1	MYH7	PUF60	HNRNPK	PACS1	ABCC9	NADSYN1	TGFBR2	BUD23	MYOCD	FBN1	DNAJC30	MFAP5	CHST3	IFT122	SLC25A24	SGO1	GTF2IRD2	NOTCH3	SMAD3	VPS37D	SMAD4	EP300	CBL	ZEB2	FDFT1	BCL7B	SMAD2	EDNRA	B3GALT6	CCNQ	RAC1	SPTBN1	TNXB	TGFB2	WAC	FOXE3	MMP2	ZNF462	MYLK	KIF3B	TTC37	GJA5	NKX2-5	MAP3K7	TAB2	FLNA	TGFB3	NAA10	MMP14	HEY2	METTL27	NXN	TBL2	CLIP2	YY1AP1	ACTB	RPL26	BCOR	AGO2	GTF2IRD1	OGT	CAPN15	WT1	GJA8
HP_SUICIDAL_IDEATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUICIDAL_IDEATION	KCNT1	SLC2A3	CRH	CHRNB2	CHRNA2	DEPDC5	TMEM67	SPTBN1	HTT	CDH23	CEP85L	FIG4	CABP4	DCDC2	CYP27A1	CHRNA4	DCTN1	USP8
HP_ABNORMAL_PR_INTERVAL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PR_INTERVAL	SCN2B	GABRA3	GAA	MT-CYB	NKX2-5	GPD1L	KCNJ18	SLC12A3	PRKAG2	KCNA5	CLCNKB	TLL1	GNB5	TRPM4	CACNA1S
HP_ABNORMALITY_OF_FUNDUS_PIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FUNDUS_PIGMENTATION	ROM1	APC	PRPH2	GGCX	SLC45A2	COL4A1	MC1R	BLOC1S6	RBP3	GUCA1A	GPR143	AIPL1	MITF	CFAP418	PAX3	EDNRB	OCA2	TSC2	EFEMP1	CRX	CLRN1	TYR	MTTP	CFI	SOX10	SLC25A15	PRPF8	CACNA1F	PDE6G	EPG5	LRAT	IFNG	CFH	RHO	CNGA1	CAPN5	POU3F4	TSC1	MIR140	MUTYH	RDH5	RLBP1	GUCY2D	ARL6	KIF7
HP_GEOGRAPHIC_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GEOGRAPHIC_ATROPHY	CFHR3	CFHR1	IMPDH1	HMCN1	APOE	NMNAT1
HP_IMPAIRED_TANDEM_GAIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_TANDEM_GAIT	PUS7	PTPN23	PLOD1	TRIP12	NTNG2	SRCAP	ZMIZ1	SVBP	DDX6	SYNCRIP	TRMT1	BCAS3	MADD	MAPK8IP3	SATB1	KDM4B	KCNMA1	PALS1	AGO2	FMR1	SLC12A2	PSMD12	MED13	DOCK3	FBXW11	WDFY3	RNF2	WASF1	MED27	ACTL6A	JAG1	CLCN3	HTT	SLC35C1	UBR7	KMT2E	BPTF	NTNG1	TCF20	MTRFR	SPTBN1	GRIA4	CNOT3	HPDL	ATP6AP2	HUWE1	BCORL1	RLIM	COQ5	GDAP1	ACTL6B	ITPR1	TNRC6B	KAT8	SETD1A	MYT1L	TRAPPC4	EMC10	LMBRD2	CCDC32	DPYSL5	JARID2	HS2ST1	TCF7L2	TANC2	ANKRD17
HP_ABNORMAL_ATRIOVENTRICULAR_VALVE_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ATRIOVENTRICULAR_VALVE_PHYSIOLOGY	FLNC	IL12A-AS1	ELN	MLXIPL	TGFB3	IL12A	ALDH18A1	PYROXD1	AKT3	MYL2	TNNT2	TBX20	AIP	FBN1	SMAD4	MCTP2	GTF2I	NCF1	CTCF	ARL6	SCO2	KIF20A	SURF1	RAF1	HADHA	LIMK1	FBN2	XYLT1	CDH2	EIF4H	VPS33A	DCHS1	APOB	NKX2-5	HCCS	EXOSC5	SYT2	TTC26	LDLRAP1	HLA-B	HADHB	ERAP1	ATRX	DSE	LOX	SCN5A	ZMPSTE24	ZNF148	MYCN	RSPRY1	LZTR1	CRYAB	TPM1	COL1A2	NOTCH2	LMNA	COL5A2	STAT4	SMAD3	FAR1	DVL3	UBAC2	ABCG5	SLC25A24	SGO1	NONO	TNNI3	MEFV	PRDM16	FHL1	RPL5	LDLR	CBL	SDHD	BCL7B	ATP6V1E1	B3GALT6	RIT1	ABCC6	PKD1	PIK3R2	HAAO	ALPK3	GATA4	SOX5	AGA	XYLT2	CITED2	CCR1	NDUFB8	PCSK9	FLNA	TLL1	MYPN	FBLN5	METTL27	TBL2	MAP3K7	MAPK1	NDUFAF3	RPS6KA3	FHOD3	POLG	ADAMTS10	G6PC3	DLL4	COX6B1	TMEM270	TLR4	PRKAR1A	TAB2	RFC2	NCAPG2	IL10	CHST3	COL1A1	FKBP6	STX1A	IRX5	NOTCH1	RAD21	BAZ1B	CSGALNACT1	RPS19	MYH7	RNF2	MAN2B1	LTBP2	BUD23	WDR37	UBE2A	IDUA	DNAJC30	MYH6	ACTC1	ATP6AP1	GPR101	ABCG8	PLD1	GTF2IRD2	DNMT3A	MTX2	GBA	IFNGR1	NF1	CCND2	VPS37D	GATA6	PPP1CB	GJA1	C4A	NKAP	HEPHL1	BANF1	COA6	RPL3L	KLRC4	COL5A1	CLIC2	DZIP1	ANKRD11	COX7B	SKI	NDUFS2	MYSM1	DTNA	DAXX	IL23R	NEK1	NDUFB11	ALG9	CLIP2	GLA	FAS	GTF2IRD1	BGN	PDSS1	ADAMTSL2	GNPTAB
HP_ABNORMAL_TRICUSPID_VALVE_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TRICUSPID_VALVE_PHYSIOLOGY	SLC25A24	FLNC	PLD1	NONO	DNMT3A	TNNI3	MYPN	MTX2	TNNT2	TBX20	GATA6	PPP1CB	FBN1	DLL4	COX6B1	SDHD	ATP6V1E1	HEPHL1	PRKAR1A	ARL6	COA6	TAB2	KIF20A	NCAPG2	HADHA	CDH2	VPS33A	RPL3L	ALPK3	NKX2-5	HCCS	EXOSC5	CLIC2	TTC26	CHST3	GATA4	COX7B	DVL3	HADHB	CITED2	ATRX	SCN5A	MYSM1	FLNA	RAD21	MYCN	CSGALNACT1	RPS19	MYH7	TLL1	RNF2	DAXX	NEK1	NDUFB11	ALG9	COL1A2	WDR37	MYH6	ACTC1	ATP6AP1	ADAMTSL2
HP_ABNORMAL_AORTIC_VALVE_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_AORTIC_VALVE_PHYSIOLOGY	IL12A-AS1	ELN	SMAD4	MLXIPL	TGFBR1	IL12A	ALDH18A1	FGFR1	PLXND1	SKIV2L	MAT2A	FBN1	GTF2I	EBP	NCF1	MYH11	NR2F2	LIMK1	EIF4H	GNPTAB	APOB	IDUA	YY1AP1	TTC26	LDLRAP1	HLA-B	VWF	FBLN5	GNPTG	ERAP1	AMER1	ARHGAP31	ZMPSTE24	SLC2A10	RRAS2	SLC35A1	COL1A2	TGFBR2	CREBBP	NOTCH2	LTBP2	NOTCH1	CRKL	LMNA	LTBP1	STAT4	SMAD3	UBAC2	ABCG5	MFAP5	MEFV	SHOC2	LDLR	BUB1B	CBL	ZEB2	BCL7B	ATP6V1E1	ANKS6	WASHC5	ARFGEF2	DDX58	SMAD6	SPTBN1	FOXF1	TGFB2	HAAO	D2HGDH	TTC37	NKX2-5	CCR1	PCSK9	TAB2	FLNA	TGFB3	GLB1	MAPK1	METTL27	BUB3	TBL2	CEP57	NPHP3	ARF1	MAN2B1	DYRK1A	EFEMP2	CCNQ	GJA1	NEDD4L	LOX	GATA5	ADAMTS10	ROBO4	EHMT1	TMEM270	TLR4	RFC2	IL10	PRKG1	CHST3	CYP24A1	FKBP6	HCN4	ACTA2	STX1A	ERMARD	WT1	BAZ1B	SNIP1	SCN1B	PUF60	BUD23	DNAJC30	ABCG8	FLI1	BCR	GTF2IRD2	KRAS	TTR	CCDC22	PCGF2	IFNGR1	VPS37D	DPH1	NKX2-6	EP300	C4A	SMAD2	COA6	BUB1	C12orf57	TMTC3	FOXE3	B4GALT7	KLRC4	CLIC2	MYLK	TRIP13	SON	IFIH1	MAP1B	IL23R	HEY2	CLIP2	NEK8	ACTB	FAS	GTF2IRD1	GBA	PDSS1	BCOR	ADAMTSL2
HP_ABNORMAL_HEART_VALVE_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEART_VALVE_PHYSIOLOGY	IL12A-AS1	ELN	SMAD4	TGFB3	TGFBR1	IL12A	ZEB2	PYROXD1	ALDH18A1	FGFR1	PLXND1	SKIV2L	GATA6	BRAF	MAT2A	TNNT2	KANSL1	TBX20	GPC3	FBN1	GTF2I	NCF1	ARL6	RAF1	MYH11	GDF1	NR2F2	FBN2	CDH2	SOS1	EIF4H	DCHS1	APOB	IDUA	YY1AP1	NKX2-5	HCCS	EXOSC5	SYT2	TTC26	LDLRAP1	HLA-B	GPC4	FBLN5	GNPTG	ERAP1	ATRX	DSE	LOX	ARHGAP31	SCN5A	ZMPSTE24	SLC2A10	RRAS2	MYCN	RSPRY1	SLC29A3	CHD7	COL1A2	TGFBR2	NOTCH1	CRKL	ADK	LMNA	LTBP1	COL5A2	STAT4	SMAD3	DVL3	GATA4	SEMA3E	SFTPA2	SLC25A24	DSP	TBCK	PTPN11	TERC	LDLR	EFEMP2	BUB1B	SDHD	BCL7B	DDX58	RIT1	SPTBN1	HRAS	ABCC6	PKD1	TGFB2	WAC	D2HGDH	EBP	TTC37	SOX5	MYL2	PCSK9	FLNA	MYPN	NRXN1	METTL27	MAP3K7	GNPTAB	NDUFAF3	CEP57	NPHP3	RPS6KA3	FHOD3	DYRK1A	STN1	CCNQ	NEDD4L	PIK3R2	GATA5	EHMT1	DLL4	TLR4	PRKAR1A	RFC2	FKTN	PRKG1	MGP	COL1A1	CYP24A1	FKBP6	INVS	HCN4	CREBBP	TAB2	IRX5	OTUD5	CSGALNACT1	SNIP1	RPS19	SCN1B	LTBP2	BUD23	WDR37	ZNF469	DNAJC30	ACTC1	ATP6AP1	ABCG8	FLI1	DNMT3A	TTR	GBA	IFNGR1	CCND2	VPS37D	PPP1CB	EP300	FAM13A	SFTPC	C4A	SMAD2	COA6	ADAMTS10	BUB1	TMTC3	RPL3L	B4GALT7	CLIC2	DZIP1	MYLK	TRIP13	PGAP1	ANKRD11	MUC5B	COX7B	NF1	B3GLCT	SKI	PSMD12	MYSM1	FLT4	IFIH1	PRDM5	DAXX	DPP9	IL23R	HEY2	NDUFB11	TBX2	GLA	NEK8	ACTB	FLNC	AGO2	SARDH	BCOR	DNAL1	MLXIPL	KRAS	AKT3	NRAS	AIP	MCTP2	DSG1	CTCF	FBXW11	SCO2	KIF20A	SURF1	HADHA	LIMK1	XYLT1	VPS33A	ACAD8	VWF	HADHB	SFTPA1	AMER1	CCDC32	ZNF148	LZTR1	SLC35A1	CRYAB	TPM1	CUL3	ABCA3	NOTCH2	KAT6A	CDC42	FAR1	UBAC2	ZNF699	ABCG5	RTEL1	MFAP5	SGO1	NONO	TNNI3	MEFV	PRDM16	SHOC2	FHL1	RPL5	CBL	BMP2	ATP6V1E1	ANKS6	B3GALT6	WASHC5	ARFGEF2	SMAD6	FOXF1	HAAO	PARN	ALPK3	AGA	XYLT2	CITED2	CCR1	NDUFB8	SPRED1	ATP11A	GLB1	MAPK1	TLL1	BUB3	TBL2	ARF1	ZIC3	MAN2B1	TRAF7	SMC3	GJA1	POLG	RPL27	FAT4	G6PC3	ROBO4	KDM6A	COX6B1	ENPP1	MAP2K1	MAP2K2	TMEM270	BPTF	NCAPG2	IL10	CHST3	RNF135	ACTA2	STX1A	TERT	ERMARD	WT1	RAD21	BAZ1B	RAB23	MYH7	RNF2	PUF60	MRAS	UBE2A	MYH6	GPR101	PLD1	BCR	GTF2IRD2	CCDC22	PCGF2	NEK9	MTX2	DPH1	NKX2-6	STRA6	NKAP	HEPHL1	BANF1	C12orf57	FOXE3	KLRC4	COL5A1	POLR3A	NDUFS2	SON	DTNA	ADA	IGFBP7	SOS2	MAP1B	LEMD2	WNT4	NEK1	ALG9	CLIP2	FAS	GTF2IRD1	BGN	PDSS1	ADAMTSL2
HP_ABNORMAL_PULMONARY_VALVE_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PULMONARY_VALVE_PHYSIOLOGY	SMC3	MLXIPL	ZEB2	KRAS	RPL27	PLXND1	FAT4	GATA6	BRAF	ADAMTS10	G6PC3	NRAS	KANSL1	KDM6A	GPC3	ELN	ENPP1	MAP2K1	MAP2K2	TMEM270	GTF2I	FBN1	DSG1	NCF1	FBXW11	SCO2	TAB2	KIF20A	BPTF	RFC2	SURF1	FOXF1	GDF1	FKTN	LIMK1	SOS1	EIF4H	GPC4	CHST3	MGP	ACAD8	CYP24A1	RNF135	FKBP6	INVS	CREBBP	STX1A	DCHS1	SFTPA1	TERT	PTPN11	ARHGAP31	CCDC32	LZTR1	NF1	RAD21	BAZ1B	OTUD5	RAB23	SLC29A3	LTBP2	CHD7	CUL3	COL1A2	ABCA3	BUD23	KAT6A	CDC42	ZNF469	MRAS	ADK	SMAD3	DNAJC30	GATA4	ZNF699	RTEL1	SEMA3E	SFTPA2	SGO1	DSP	TBCK	GTF2IRD2	CCDC22	NEK9	NOTCH2	TERC	VPS37D	SHOC2	EFEMP2	NKX2-6	PPP1CB	EP300	FAM13A	SFTPC	STRA6	BMP2	BCL7B	ANKS6	HRAS	WASHC5	COL1A1	RIT1	WAC	PARN	B4GALT7	POLR3A	PGAP1	MUC5B	B3GLCT	MAP3K7	NDUFS2	TTC37	PSMD12	NDUFB8	SPRED1	ATP11A	FLT4	RAF1	ADA	IGFBP7	SOS2	PRDM5	LEMD2	WNT4	DPP9	TBX2	NRXN1	METTL27	TBL2	CLIP2	NEK8	NOTCH1	AGO2	NDUFAF3	GTF2IRD1	ZIC3	SARDH	BCOR	TRAF7	STN1	DNAL1	GNPTAB
HP_ABNORMAL_HEART_SOUND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEART_SOUND	LDLRAP1	IDS	ABCG8	GAA	TMEM260	SDHD	BICRA	GATA4	NKX2-5	SLC25A4	CITED2	BMPR2	MYH7	PCSK9	TBX20	LDLR	TLL1	GATA6	FIG4	PRKAR1A	GJA1	SMAD6	FBN1	NOTCH1	SPTBN1	GATA5	DDX6	SMARCA2	MYH6	GNPTAB	ACTC1	RBBP8	APOB	ABCG5	CWC27
HP_SYSTOLIC_HEART_MURMUR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYSTOLIC_HEART_MURMUR	TBX20	TMEM260	GJA1	GATA4	CITED2	TLL1	MYH6	ACTC1	GATA6	NKX2-5
HP_ABNORMAL_STOOL_COMPOSITION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_STOOL_COMPOSITION	UROS	UROD	CPOX	EPCAM	SLC10A2	ALAD	GATA1	DEF6	SLC9A3
HP_OPPORTUNISTIC_INFECTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPPORTUNISTIC_INFECTION	IGKC	PIK3CD	RAG1	TGFB1	IGHG2	IKBKG	MBL2	IL2RG	PTPRC	ZNFX1	ZAP70	PNP	IL7R	IL12RB1	MPEG1	JAK3	ADA	DCLRE1C	ELANE	RAG2	IL21R
HP_SEVERE_VIRAL_INFECTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_VIRAL_INFECTION	CD70	CD27	FCGR3A	LAT	TGFB1	RAC2	BLM	ZNFX1	CTPS1	REL	DEF6	MAGT1	TPP2	MCM10	PGM3	IL2RA	TLR7	XIAP	SH2D1A	ADORA2A	IKBKG
HP_SEVERE_CYTOMEGALOVIRUS_INFECTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_CYTOMEGALOVIRUS_INFECTION	LAT	TPP2	MCM10	REL	DEF6	MAGT1	IKBKG
HP_COMPENSATORY_HEAD_POSTURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COMPENSATORY_HEAD_POSTURE	KIF21A	GRK1	CACNA1F	CACNA2D4	PDE6B	SLC24A1	RHO	TUBB3	ZFHX4	LRIT3	COL25A1	GRM6	TRPM1	GNAT1	NYX	GNB3	SAG	CABP4	GPR179
HP_ABNORMAL_ASCENDING_AORTA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ASCENDING_AORTA_MORPHOLOGY	MYLK	TGFB3	TGFBR1	NKX2-5	LOX	ACTA2	SMAD3	FOXE3	GNB2	MAT2A	COL3A1	SMAD4	MFAP5	ELN	HEY2	SMAD2	TGFBR2	SMAD6	MYH11	PRKG1	NOTCH1	GATA5	FBN1	TGFB2
HP_RECURRENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT	BCKDHB	SMC1A	DBT	BCKDHA	ADORA2A
HP_ABNORMAL_BASOPHIL_COUNT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BASOPHIL_COUNT	SRSF2	ASXL1	BACH2	TET2	KIT
HP_ABNORMAL_ORAL_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ORAL_PHYSIOLOGY	SLC12A5	MECP2	PRPH	WAS	ZEB2	PYROXD1	CLCN4	SRPX2	VPS13A	KANSL1	STAT3	AP4B1	CFTR	HLA-B	F2	AXIN2	TREM2	QDPR	SELENBP1	LBR	GPT2	ZNF41	PCDH19	IRF5	GDI1	GABRA1	FTSJ1	OPTN	KIF23	DLAT	GSN	TGFA	F13B	CHRM3	SATB2	IRF6	GRIK2	SCN9A	STAT5B	WNT10A	CHMP2B	POLR3A	GLE1	FIG4	PDE10A	FGF10	WNT10B	UBE3A	SNRPN	ALS2	CCN2	COLQ	CERT1	TPM3	NABP1	NEXMIF	SLC9A7	EIF2S3	HPDL	FGFR3	STRADA	LAMA2	MT-CO3	FOXP2	CNKSR2	FOXP1	FOXG1	PLA2G6	F8	DEAF1	PFN1	SLC12A2	ITGA7	LAMB2	GRIN2A	PRKAR1A	POU3F3	ADSS1	TUBB2B	DMD	ARHGEF6	TP63	SCN1A	AP4S1	SCN2A	IQSEC2	SPTBN1	AP4E1	TUBB3	ACSL4	POLR3B	TBK1	AP4M1	FGFR2	PRPS1	SYP	KIF15	TASP1	ATP10A	SETD5	MTRFR	HERC1	MSX1	EPHA4	FARS2	P4HA2	TH	DCTN1	ZNF711	ATRX	CAV1	TSPOAP1	MYL2	TSPAN7	DAO	MAP3K20	ATP7B	FBLN1	MED12	NRXN1	SCNN1B	LMNB2	ACTA1	USP9X	ZBTB16	MATR3	CFAP410	RTL1	SCNN1G	GRIN1	PTPN22	IDS	SPEN	GABRG2	ADNP	IL1RAPL1	BCOR	GNS	GFM2	MRE11	ATP6AP2	VCP	FGFR1	TAF15	IKZF1	RARA	PON1	EDARADD	F5	SOD1	ATP1A3	CCR6	PPP2R5D	ATXN2	SERPINE1	SCNN1A	PTS	PMP22	DLG3	PML	TPM2	GLT8D1	OCA2	SIM1	MID2	PON3	CLDN11	LRP6	GNAI3	MEG3	NTNG2	PAX9	FRMPD4	ARX	HNRNPA1	BCORL1	ALG13	ZBTB11	RAB39B	NONO	NEK1	PON2	PI4KA	GCH1	PYGM	NECTIN1	STEEP1	SLC9A6	F10	MAT1A	SELENON	PPARGC1A	FUS	HLA-DRB1	NUMA1	CHCHD10	PCGF2	HNRNPH2	AGTR2	SLC16A2	NOD2	C9orf72	SCN1B	LPIN1	HACD1	SMARCA2	MED27	TBL1XR1	NEFH	UPF3B	SH3TC2	RPS6KA3	MT-CO1	TANGO2	ANXA11	CCNF	ZC4H2	IRF2BP2	ADGRG1	SHMT2	ANG	SATB1	PTCHD1	NPM1	DLK1	FIP1L1	UNC13A	USP27X	PAK3	SQSTM1	VAC14	EDA	CLDN10	F13A1	ZNF81	VAPB	EXTL3	ERBB4	MAGEL2	TARDBP	UBQLN2	SUMO1	HCFC1	SPART	SERPING1	GABBR2
HP_DECREASED_CIRCULATING_PARATHYROID_HORMONE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_PARATHYROID_HORMONE_LEVEL	GCM2	AIRE	SLC34A3	PTH	SLC34A1	TBX1	CASR
HP_ABNORMAL_WAIST_TO_HIP_RATIO	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_WAIST_TO_HIP_RATIO	ABCC8	HNF1A	IRS2	PAX4	SDC3	HMGA1	POMC	ENPP1	NEUROD1	MTNR1B	RETN	PTPN1	IGF2BP2	WFS1	SLC30A8	AKT2	PPARG	KCNJ11	GCK	GHRL	LIPC	IRS1	NR0B2	TCF7L2	AGRP	UCP3	CARTPT	ADRB2	IL6	GPD2	PPP1R3A	HNF4A	MAPK8IP1	PDX1	SLC2A2	ADRB3	HNF1B
HP_ABNORMAL_REFLEX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_REFLEX	PROM1	NOTCH2NLC	TARDBP	IL12A	AGRN	PYROXD1	NALCN	CHCHD2	CLCN4	SLC2A1	OPA3	TAF2	RYR1	DYSF	DES	FLVCR1	HSPG2	CHRNE	CHCHD10	SLC25A4	ATXN1	SELENON	IGHMBP2	ERCC3	FANCF	EXOSC5	NDUFA10	ERCC4	MORC2	SUCLA2	CRAT	FANCD2	MAB21L1	GTPBP2	TWNK	ISCA2	MT-TK	PDK3	MYF6	TRIP4	MT-ATP6	TBCD	TECPR2	TRAF3	LAMA2	ALS2	NEFL	STIL	COLQ	CHP1	ASAH1	LRAT	POLG	STAT4	TERT	CTNNA2	GLYCTK	SYNJ1	ARV1	CLP1	TPM3	TIMM50	DHH	GLRX5	SQSTM1	HGSNAT	NRAS	CAV1	PHYH	PUS3	COQ9	FLNC	FUS	UNC93B1	MAD2L2	ATP1A2	RTN2	FANCA	PDGFB	GALC	PSAP	PET100	ATP1A3	ASPA	AP4E1	DNMT1	COPB2	NIPA1	LYST	RAB3GAP1	PPP2R2B	RAI1	GJC2	RMND1	PEX12	UBA5	SLC39A14	RNASEH2C	SCYL2	ZNF711	TARS1	POLG2	AMT	GRID2	PLP1	PNKP	DEGS1	GBA2	ARL6	PTRH2	CLCNKA	NKX6-2	VAMP1	TCTN2	REEP1	ALDH18A1	PKDCC	SLC44A1	PLOD1	VWA3B	MT-TT	DYNC1I2	RP1L1	DNM2	AUH	PLA2G6	POMGNT1	PNPLA6	ADCY5	WNK1	FMR1	FLRT1	MYPN	ARSA	QRICH1	CHMP2B	MCPH1	DDHD1	PEX26	OCA2	CLPB	CSF1R	VAPB	AGBL5	KIF1A	RUBCN	RUSC2	PEX5	HIBCH	NT5C2	STAC3	PEX16	MTRFR	MICU1	ATP5MK	COL13A1	BUD23	PMM2	DPAGT1	FANCE	BICD2	PRCD	DNAJC30	BRAT1	PRKRA	LGI4	MFF	VPS13A	PLPBP	CNP	HSPD1	KLHL41	NDUFA1	AASS	DST	SLC16A2	TUBGCP2	DEAF1	RNASEH1	FXR1	PSEN1	DHDDS	EMC1	HACD1	PIGT	CFL2	ERCC8	FHL1	SPAST	DSTYK	SLC1A3	XPA	MT-ND6	PITX3	POMT2	MECP2	ACTA1	PGAP1	EP300	TRPV4	ADGRG1	NECAP1	ABCD1	CLTC	DOCK3	TFG	USP27X	HNRNPK	HPDL	STX16	SEMA4A	ZNF81	CACNA1G	COX4I1	SLC19A3	BRCA1	DPM3	CACNA1A	PYCR2	TUBA8	GABRA3	SPG7	FKRP	PRPF3	HTRA1	VLDLR	WASHC5	TSHB	ENTPD1	SLC6A5	PIGG	CYP7B1	AIFM1	ORAI1	PINK1	RP1	DLAT	CC2D2A	LRP12	NUP62	KIF1C	FGF13	TBC1D24	JAM2	NEB	LDB3	TPM2	HIKESHI	CDK5	SDHA	RNF170	GABRA2	CYP27A1	KPNA3	SOD1	PIGL	SMPD1	LARGE1	EMD	FTL	MCCC2	NDUFA9	TACO1	AP3B2	EGR2	GM2A	ATXN2	IFT88	SYT2	FKTN	MFN2	LHX4	MME	MKS1	PDE6A	PPP1R15B	SPTAN1	PITRM1	IREB2	DMD	MAG	KLHL7	MUSK	HCN1	OCRL	PEX19	ACSL4	DDC	SELENOI	PRDM8	ROM1	CNTN1	MSTO1	VPS37A	GAN	TPP1	SLC25A46	RETREG1	PRPF6	DDHD2	MYL2	PRNP	SLC25A22	DUOXA2	ELP1	MPZ	PEX3	MED12	COQ2	SOX10	XPC	APOB	PEX1	VPS11	HPRT1	PRPH	PEX11B	PIK3R5	SNAP29	NTRK2	MEGF10	MRPS25	SPTBN4	PC	CA8	GMPPB	PMP22	UBAP1	SPEG	PGAP3	UGDH	BIN1	PRPH2	SAG	MYORG	DGUOK	TAF1	BAZ1B	RFT1	KCNC3	CD59	ARX	FAM126A	BEST1	AP4S1	MERTK	ABCC8	RMRP	PANK2	ACOX1	MTM1	MT-TV	PLAA	ATP13A2	CNNM2	BSCL2	ATL3	AMPD1	NDUFS2	COL12A1	TMEM106B	DKC1	DUOX2	HTRA2	DCAF8	ABCB7	WDR81	UBE2T	HESX1	RP9	PRUNE1	OPA1	FSCN2	GLUL	TTC8	PDHB	TAOK1	SCO2	LPIN1	FBLN5	UPF3B	B4GALNT1	RPS6KA3	MT-CO1	TANGO2	SEC31A	ADSL	ABHD12	CLRN1	TINF2	SLC25A15	SPG11	TK2	PDYN	AAAS	RFWD3	ERCC6	NDUFS1	CRB1	ERCC2	TOE1	IQSEC2	CLIP2	TRIM2	SMN1	PRKCG	MPV17	TBK1	FAS	GTF2IRD1	TRAPPC6B	VPS13C	TMEM67	ATXN10	CCDC88C	HCFC1	COG7	DALRD3	SACS	COA7	TRAPPC11	SLC6A19	SZT2	SEMA6B	TTPA	GARS1	CWF19L1	CCDC88A	FRMPD4	ITPR1	PARK7	AP4B1	KIZ	MT-ND3	FXN	GTF2I	TIMM8A	ATXN3	ZNHIT3	ADSS1	WARS1	PRPS1	ACAT1	ADCY6	HLA-B	MPLKIP	COX5A	SLC25A1	ALG1	MT-TL2	ATP7A	FOXRED1	SURF1	UBE3A	SYNE2	NEU1	KY	FA2H	PAH	REEP6	SBF2	FDX2	SLC12A2	TBCK	PLEC	SLC1A4	SNCA	POMK	WDR73	NDUFS4	NDP	KIAA0586	LYRM7	COL4A1	C19orf12	IYD	AP4M1	GJA1	TH	ATRX	AUTS2	KIF14	PIGN	POU1F1	CYP2U1	POU3F4	TLR3	ZEB2	HK1	ALG14	NDUFS8	TDP1	CNGB1	HEXB	SPTLC1	ABCA1	ERLIN2	KCNJ6	IBA57	DNM1L	ZNF408	NSUN2	CA4	TLR4	SIL1	MYOT	EEF1A2	ERBB3	MICOS13	KCNA2	WWOX	MARS1	PNPLA2	PRR12	ATP8A2	ELN	CPT1C	CLDN11	RGR	CNTNAP1	MYH7	ERCC5	CDHR1	PGAP2	TCAP	CRYAB	ABHD5	ELOVL4	TBC1D20	ANO10	PI4KA	RAD51C	EYS	PODXL	PRPF8	GLRA1	CLTRN	SCYL1	APOE	VPS13D	IFNGR1	PMPCA	SAMD9L	DCTN1	DNM1	SASS6	SEPTIN9	IFT172	GPT2	LINS1	PDHA1	PRKN	GJB1	SYNE1	NARS1	MTTP	DNAJC3	SDHAF1	IL23R	BRCA2	CFAP418	SETX	BCS1L	PRRT2	SNRPN	PPOX	CIT	SAR1B	MLXIPL	MAPT	DNAJC6	KRAS	ASPM	GRN	LMNA	MGME1	SRPX2	MYH14	FARS2	TSEN2	GRM1	ZNF41	SCN9A	TYROBP	NOP56	NR2E3	CYFIP2	RP2	FTSJ1	ATP6V1A	BEAN1	UQCRQ	VPS33A	CACNA1S	HADHA	PSMB8	NDUFAF5	IMPDH1	PGM3	PROP1	CEP135	IER3IP1	C9orf72	KLHL9	HADHB	MT-TL1	NUS1	PDE8B	CCT5	HDAC4	SLC35A1	SCN8A	SLC20A2	KIF5A	GRIA3	SNAP25	AR	HUWE1	SLC12A6	CNKSR2	DARS2	CHRND	POMT1	CHMP1A	NONO	IDH3B	MTPAP	LAMB2	ATXN8OS	TSEN34	PIGV	PAX1	ST3GAL5	SEPSECS	PLEKHG5	POLR3B	GPHN	TBC1D23	GDAP1	NUBPL	RPE65	SCN1A	NAGA	GTF2H5	AMPD2	CHRNB1	PCYT2	NRL	GRIN2A	ACD	OTOG	ALDH4A1	ACER3	GLDC	GNAS	ADPRS	HRAS	NDUFAF6	HTT	DPYD	TGM6	ZFYVE27	ATP6AP2	BRIP1	EXOC8	PPP2R5D	PEX10	CLN5	OFD1	JPH3	SIM1	CNTNAP2	STX1A	LIPT1	ATL1	TRAK1	ADAR	MTFMT	PEX7	ALG13	SLC25A19	HINT1	GBA	ZFR	PIEZO2	CAPN1	MINPP1	NGLY1	UFC1	SPTBN2	GTF2IRD2	DARS1	GMPPA	UBA1	PIGO	MT-ND2	NDUFAF3	FGF12	TRIM37	VCP	TRMT10A	B4GAT1	ALG2	RRM2B	SH3TC2	KLRC4	HSPB3	PEX6	TTR	LMNB1	PIGA	SHMT2	PLEKHG4	CARS1	PRPF4	CDK5RAP2	SPR	CAMTA1	PPP1R21	VAC14	WDR4	PDSS1	AHI1	TRMU	IL12A-AS1	MYO9A	RTEL1	DCC	B3GALNT2	MT-TE	STUB1	EXOSC3	PRSS12	FBXO38	INF2	SUMF1	FANCC	EIF4H	JAG1	PIGW	LIFR	MT-TN	TPI1	ERAP1	POLR3A	LRP4	LRSAM1	SLC7A14	PCLO	PCARE	SLC6A9	TG	TBX4	JPH1	SLC52A3	KATNB1	GOSR2	SNX14	ERCC1	FKBP10	MT-ATP8	CRPPA	GFPT1	SHANK3	MTMR14	SPTBN1	SPG21	MRE11	WDR62	CRX	ZSWIM6	TSEN54	FLI1	RAB7A	XK	PDXK	GNE	MARS2	TMEM63A	HSPB1	METTL27	GABRB2	CREBBP	USP9X	LRRK2	GUCA1B	FASTKD2	DYNC1H1	MT-ND1	ERGIC1	CERKL	BAG3	CADM3	NDUFV2	PRX	GCH1	TMX2	NDUFA4	ATXN7	GBE1	SLC1A2	MAN2B1	PEX13	LBR	AARS1	KCNQ3	PTS	SLC52A2	ATAD1	NDUFAF2	FKBP6	PIGB	TSHR	RAB18	NSD1	KCND3	ACTL6B	SNIP1	SLC33A1	KCNK9	ERLIN1	ZFYVE26	PCDH12	NDUFA12	MSL3	HSPB8	SMN2	PEX14	GFM1	ASCC1	VPS37D	VWA1	IARS2	C4A	GABRA5	RARS1	UCHL1	ARL2BP	SLC25A21	L1CAM	STIM1	ALG6	SIGMAR1	TNR	SLC29A3	PARS2	PSAT1	ECHS1	XRCC2	MATR3	KCNA1	COX15	RFC1	PRPF31	LITAF	BSND	BCAS3	PET117	TICAM1	IFT140	DOK7	OSTM1	KBTBD13	SCN4A	INPP5E	SUCLG1	WARS2	NEFH	UGP2	GPAA1	KNL1	GLRB	ELP2	PEX2	UBAC2	DPM2	DKK1	FAM161A	VANGL1	METTL5	PALB2	CHAT	MED25	DHX38	TSEN15	FANCG	FBN1	CHRNA1	RDH12	KARS1	CCR1	TSPAN7	TTC19	SNRNP200	EXOSC1	ALG3	IL1RAPL1	GAD1	SYNGAP1	TMEM43	HSD17B4	MED17	DDB2	CELF2	SDHB	KCNT1	TREX1	GRM7	DNAJB2	KLC2	CTSF	VRK1	RBP3	SLX4	RNF2	RHO	GABRG2	INPP5K	EIF2S3	MFSD2A	SLC25A12	ATM	ARHGEF2	MAT1A	CEP152	ZNF513	PARN	TTN	DENND5A	MT-ND4	KIF1B	COX20	GEMIN4	SLC35C1	GAA	KCNA4	COX6A1	ALG11	PTCHD1	TULP1	PDGFRB	MT-ND5	AK9	SLC5A5	EXTL3	NCAPD3	ARSI	HNRNPDL	GAMT	SPART	HARS1	TREM2	MYO1H	GIPC1	RAD51	NDUFA13	KCNQ2	KIDINS220	NEK2	NCF1	MRPS34	SCN3A	DAG1	NEK1	NDUFS7	SBF1	CEP63	IMPG1	GTF2E2	ST3GAL3	ARL6IP1	JAM3	FANCL	AP5Z1	YWHAG	GCLC	GLE1	KDM5C	ITGA7	PRICKLE1	LMOD3	GRIN1	ARHGEF6	APTX	ABCA4	BCL7B	SMG9	KCNB1	KCNJ18	MDH2	SPATA7	POMGNT2	FIG4	NDE1	ATN1	GFER	TSPOAP1	TRMT5	MAP3K20	RAPSN	BBS2	MT-TW	GNB4	HMGCL	FANCB	GRIN2D	FGD4	ALG9	FANCI	ATP6V1B2	PIGP	GCSH	FBXO7	GBF1	ACADM	SLC46A1	CENPJ	DNASE1L3	RFC2	PDE6G	DLG3	ISCA1	SLC5A7	IMPG2	CASK	CDC40	MCOLN1	COQ5	SCAPER	AFG3L2	RAB39B	CTDP1	NFASC	SLC2A3	RPGRIP1L	FLII	ARHGEF18	AGTR2	SLC13A5	TUB	PLCB1	COG5	PDE6B	PTF1A	FUZ	EXOSC9	PPIL1	RLIM	NDUFA2	COQ8A	SDHD	ANKLE2	PAK3	XRCC1	PQBP1	REEP2	CACNA1E	NDUFAF4	ABAT	ATP1A1	TSPYL1	USH2A	TRIM8	USP8	IFRD1	TRIM32	PNPT1	RARS2	GDAP2	GDI1	LIMK1	TYMP	KCNK4	GNAQ	MECR	RXYLT1	SLC9A7	CDK6	AHR	PAX7	MSTN	MT-CO3	MYL1	NDUFV1	CDK19	FAR1	CARS2	MEFV	LHX3	SPTLC2	CPT1A	EGF	MCCC1	GEMIN5	TTBK2	EYA1	TUBB3	SYP	MBOAT7	NAGLU	DPM1	TRAPPC14	CACNA1B	GNB2	IDH3A	OCLN	TMEM240	CLCNKB	TBL2	TOPORS	DYM	TUBB2B	ASNS	NDRG1	QARS1	FANCM	ACO2	EEF2	NDUFS3	TMEM270	IL10	KDM1A	PPP3CA	COG4	MID2	COASY	MAK	KIAA1549	RPGR	ARL3	RNF113A	SLC18A3	SLC18A2	CNGA1	SIK1	STEEP1	TAF13	COX8A	GFM2	SLC39A8	TPO	UROC1	DBH	ZC4H2	PHC1	AP1S2	MCM3AP	ALDH5A1	PIGY	COX10	RLBP1	MAGEL2	NARS2	DHX16	BCAT2
HP_LYMPHANGIECTASIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LYMPHANGIECTASIS	MPI	CCBE1	PIEZO1	SOX18	FAT4	FOXF1	ADAMTS3	HRAS
HP_ABNORMAL_LIBIDO	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LIBIDO	GNRHR	PRKAR1A	PRKACA	KISS1	SLC2A3	PROK2	TAC3	ABCD1	NSMF	PDE11A	CDH23	TACR3	ARMC5	KISS1R	MEN1	CDKN2B	HTT	FGF17	CDKN1B	PROKR2	CHD7	USP8	FGF8	GNAS	WDR11	CDKN2C	PDE8B	HS6ST1	FGFR1	GNRH1	SPRY4	AIP	FSHB	CDKN1A	DUSP6
HP_ABNORMAL_HEMATOCRIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEMATOCRIT	JAK2	EPO	EPAS1	VHL	HBB	HBA2	SH2B3	EGLN1	HBA1	HSCB
HP_ISOMERISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ISOMERISM	NODAL	CFC1	FANCB	ZIC3	GDF1
HP_INEFFECTIVE_ESOPHAGEAL_PERISTALSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INEFFECTIVE_ESOPHAGEAL_PERISTALSIS	GLA	ACTB	COL4A6	STAT3	GMPPA	PHOX2B	MYO1H	AAAS	IVNS1ABP	IARS2	TRAPPC11	GUCY1A1	FLVCR1	SAMD9	MYH11	COL4A5
HP_ABNORMAL_HEART_RATE_VARIABILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEART_RATE_VARIABILITY	DLL1	GLI2	PTCH1	TDGF1	MADD	NODAL	GAS1	SHH	FOXH1	STIL	ZIC2	SIX3	GALC	SMC1A	TGIF1	STAG2	FGFR1	PSAP	CDON	DISP1	FGF8	PHOX2B
HP_BLOODSTREAM_INFECTIOUS_AGENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLOODSTREAM_INFECTIOUS_AGENT	CD27	LAT	CTPS1	REL	TOM1	DEF6	MAGT1	ITK	TPP2	PGM3	ELANE	PRKCD	IKZF3	TET2
HP_ABNORMAL_LIVER_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LIVER_PHYSIOLOGY	ASAH1	ATP8B1	CYP7B1	HSD3B7	SC5D	ABCB11	AP1B1	AKR1D1	TJP2	PKHD1	ALMS1	TMPRSS6	AMACR	ABCB4	SLC51A	PGM1	SLC25A13	AP1S1
HP_RECURRENT_JOINT_DISLOCATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_JOINT_DISLOCATION	DSE	CHST14	COL1A2	COL5A2	PRKACB	RYR1	IPO8	COL1A1
HP_ACROMICRIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACROMICRIA	RTL1	MEG3	SNRPN	NPAP1	MAGEL2	DLK1	SNORD116-1	PWRN1	SLC26A2	NDN	PWAR1	HERC2	MKRN3	SNORD115-1
HP_ABNORMAL_EYELID_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EYELID_PHYSIOLOGY	KCTD17	MAPT	VPS13A	PARK7	HPCA	DRD5	ATN1	AARS1	PLA2G6	TWIST1	ANO3	FGFR3	POLR1D	CACNA1A	ATP13A2	CLCN1	CP	TOR1A	HSPG2	POLR1B	FTL	THAP1	SALL4	TAF1	PANK2	TBC1D24	DDC	FGFR2	MAFB	TUBB4A	SYNJ1	TBP	CHN1	POLR1C	STARD7	TCOF1	CPLX1
HP_AGYRIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGYRIA	DAG1	FKTN	POMT2	DCX	KIF2A	FKRP	PAFAH1B1	TUBA1A	CDK5	POMT1	TUBG1	CEP85L	CRPPA	POMK	LARGE1
HP_ABNORMAL_LDL_CHOLESTEROL_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LDL_CHOLESTEROL_CONCENTRATION	APOC3	ABCG8	SLC25A13	TMEM43	TTPA	LPL	SMPD1	MSMO1	LDLR	LMNA	CYP7A1	FDFT1	ABCA2	FHL1	LIPA	SAR1B	NGLY1	PPP1R17	GHR	APOB	APOA2	SYNE1	LCAT	LDLRAP1	MTTP	ALB	EPHX2	PCSK9	TMEM199	CCDC115	B4GALT1	CEP19	SYNE2	APOA5	SLC7A7	PANK2	ANGPTL3	EMD	CELA2A	ALG6	APOE	ABCG5
HP_ABNORMAL_HDL_CHOLESTEROL_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HDL_CHOLESTEROL_CONCENTRATION	CREB3L3	APOC3	ALMS1	MTTP	SLC25A13	LIPC	ABCA1	LMNA	LCAT	SMPD1	APOA1	CETP	PPARG	CEP19	APOA5	SLC7A7	LIPA	GALNT2	CELA2A	APOE	PSMB8
HP_ABNORMAL_COAGULATION_FACTOR_V_ACTIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_COAGULATION_FACTOR_V_ACTIVITY	MCFD2	AHCY	SLC37A4	LMAN1	F5
HP_ELEVATED_TOTAL_SERUM_TRYPTASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_TOTAL_SERUM_TRYPTASE	ASXL1	SRSF2	RUNX1	KIT	TET2	CBL
HP_MICROGRAPHIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MICROGRAPHIA	ATXN8OS	PDGFB	SLC20A2	GLUD2	VPS13A	NR4A2	MAPT	FTL	SNCAIP	ATXN2	ADH1C	TBP	PDGFRB	SNCA	MT-TT	GBA
HP_ABNORMAL_CRANIAL_NERVE_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CRANIAL_NERVE_PHYSIOLOGY	IL12A-AS1	IL12A	MYO9A	AGRN	CLCN4	RAD51	HK1	SDHC	COL6A1	TCIRG1	KLHL41	DES	FANCC	CTLA4	CHRNE	COL6A2	ALG2	MTMR2	ADSS1	ANKH	MPZ	ABCA1	TGFB1	AMER1	FANCF	ADCY6	BAP1	ERCC4	SUCLA2	HLA-B	FANCD2	SLC25A4	BIN1	SLC25A1	ERAP1	EYA1	TWNK	SMARCE1	MTRFR	SLC5A7	BMS1	COLQ	TRAF7	CHD7	ESCO2	ASAH1	SALL4	POLG	LAMA2	FANCL	STAT4	LARGE1	PEX5	SEMA3E	GLE1	SLC52A3	TPM3	CA2	AKT3	SH3TC2	SDHAF2	OSTM1	PLEC	ACTA1	LMOD3	SLC18A3	GFPT1	NEFL	MAD2L2	ARHGEF6	RYR1	FANCA	KY	MTMR14	IQSEC2	HLA-DPA1	FKRP	CRYAB	COL6A3	LYST	GJA1	MYH7	TNFRSF11A	GJC2	WDR26	ADA2	CHRNB1	COL3A1	ZNF711	POLG2	PRDM16	RERE	DOK7	CHRNA1	GNE	HOXB1	RAPSN	TERT	POMT1	PDGFB	FANCB	USP9X	FANCI	MYD88	ALG14	PIK3CA	TPM2	DMPK	CHKB	BAG3	CCDC174	PEX11B	COL13A1	NLRP3	PSAP	MUSK	SPEG	TUBB6	TLR4	DNASE1L3	FKTN	MYPN	IDH1	SLC52A2	DCTN1	DLG3	TNFRSF1A	BICRA	MYMK	SOST	DNM2	SDHB	SELENON	CLCN7	LRP5	BTNL2	CDH23	DNAJB6	PEX6	FRMPD4	CNTNAP1	RAB39B	PI4KA	TK2	SDHD	LMNA	REV3L	RAD51C	DPAGT1	FANCE	NEB	SNX10	NRAS	IFNGR1	AGTR2	PEX14	CRLF1	CFL2	C4A	PRTN3	PTDSS1	CHRND	AIP	ZFHX4	SMARCB1	SALL1	ANGPTL6	HLA-DPB1	KLHL40	TRPV4	LMX1B	PEX13	PEX19	ADGRG1	PTEN	DNA2	TUBB3	COL25A1	USP27X	IDH2	IL23R	BRCA2	XRCC2	PLXND1	ZNF81	PAK3	MECP2	HLA-DRB1	BRCA1	SUPT16H	LRP4	MYL2	IRF4	PEX1	VCP	FRG1	RRM2B	MGME1	SRPX2	TRIM32	ZNF41	SLC19A3	GDI1	TMEM67	FTSJ1	GSN	TFAP2A	LRP12	KBTBD13	SCN4A	PRKCZ	TTN	ITGB4	SIX1	NF2	UBE4B	ANO5	THSD1	UGT1A1	SLC9A7	SNAP25	SMO	PTRH2	SLC12A6	CNKSR2	UBAC2	AKT1	DKK1	SYT2	LAMB2	MEFV	PALB2	KCNAB2	POMT2	CHAT	DMD	SLC39A14	FANCG	ACSL4	GAN	MMP23B	CAPN3	SYP	SUFU	TNFSF11	PDPN	PEX2	CCR1	SQSTM1	TSPAN7	PRNP	DACT1	MED12	MAFB	CHN1	PTPN22	PEX16	FANCM	CRPPA	HSPG2	IL1RAPL1	SPEN	HMBS	TGFBR3	PABPN1	BRIP1	VAMP1	MEGF10	ENG	IL10	SPTBN4	PEX12	GMPPB	SLX4	CHCHD10	MID2	SMCHD1	ACADS	PUF60	DLL4	CASZ1	ARX	ALG13	STEEP1	MTM1	PMP22	CLCF1	TFG	COL12A1	UBA1	UBE2T	NOD2	YME1L1	PEX10	LUZP1	PEX3	SCO2	UPF3B	SGCD	RPS6KA3	KLRC4	PEX26	ZC4H2	FUZ	SHMT2	MEN1	PTCHD1	RFWD3	GABRD	SKI	AK9	FAS	PTPN11	NARS2	SIX5	HCFC1
HP_OCULAR_FLUTTER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCULAR_FLUTTER	SLC6A3	ATP1A2	CACNA1A	SLC35A2	SLC1A3	ATP1A3
HP_DELAYED_ABILITY_TO_WALK	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_ABILITY_TO_WALK	CHD3	MECP2	ALS2	RAI1	RALA	PLOD1	SEMA6B	BRAT1	TRIM8	TBR1	HK1	PIEZO2	INPP5E	FRMPD4	FAR1	HERC2	ABCA2	ATG5	LMNB1	MAPK8IP3	FBXO11	RAB11B	ATP6V1A	RYR1	YY1	JAG1	AHDC1	PAK1	MPZ	COL12A1	SET	XYLT1	TRMT1	GRIK2	SLC16A2	SPOP	ZNF148	SLC5A7	DLAT	EBF3	SNRPN	LAMA2	BRPF1	CUL3	ATG7	LSS	KDM5B	HUWE1	FOXP1	DOLK	CNTNAP2	AP3B2	MID1	WDR26	PACS2	TIMM50	SMC1A	MTPAP	MYO9A	PLP1	DYNC1H1	DPM3	IQSEC1	EP300	SHOC2	CNKSR2	WDR4	ZEB2	CSNK2B	COG1	COPB1	NCDN	KARS1	CPLX1	ALMS1	RAB3GAP1	TCF20	DHPS	RUBCN	FUS	ATP10A	MBOAT7	SETD5	ZNF407	TMEM94	AMPD2	REPS1	HS6ST2	PCYT2	ZSWIM6	SLC37A4	NARS1	CYP3A4	SYT1	ARID1B	STAG2	FBLN1	TMEM63A	LMNB2	GALNT2	SLC9A7	TANGO2	PIGG	MAGEL2	CDK13	GRIA4	PRMT7	SLC12A2	FASTKD2	GRIN1	DYNC1I2	SPTLC1	FBXL3	SIGMAR1	CADM3	KMT2E	ERLIN2	POLR2A	ACTN2	TRRAP	PPP2CA	MRPS25	NCAPG2	DHX30	PPP2R5D	NMNAT1	TMTC3	KDM1A	CLCN3	HECW2	MRPS14	CNOT3	CREBBP	RPL10	UBE3A	CELF2	CLDN11	CASK	RUSC2	OPHN1	CLCNKB	CAMK2A	HNRNPK	PHEX	CUBN	SLC18A2	KPTN	NDUFA12	NONO	MRAS	MSL3	TNPO3	SLC25A1	NFASC	P4HTM	ADARB1	GARS1	BCL11B	SPG11	SLC25A42	FLVCR1	PMPCA	NDUFA1	ARL13B	SMARCA2	ASXL3	RORA	SDHB	BSND	LRRC32	TRAPPC9	PNPLA2	PGAP1	TMEM222	FOXG1	SHMT2	KDM3B	DAG1	SMARCD1	PIGO	PIGC	SATB1	DOCK3	SON	DPYSL5	PUS7	NEUROD2	FITM2	AHI1	PAK3	ODC1	TRIM2	WASF1	AMN	DPF2	NBEA	TRIO	CWC27	ZC4H2	KLHL15	CLCNKA
HP_ABNORMAL_CONUS_TERMINALIS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CONUS_TERMINALIS_MORPHOLOGY	ZMYM2	PIGG	CREBBP	EP300	SUPT16H	EXT1	LETM1	DARS1	CPLX1	FGFRL1	PIK3CA	PRMT7	EXT2	MNX1	NSD2	RASA1	CTBP1	KDM1A	NELFA	HAAO	CTNNB1	TRAF7
HP_USUAL_INTERSTITIAL_PNEUMONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_USUAL_INTERSTITIAL_PNEUMONIA	MUC5B	RTEL1	SFTPC	ABCA3	SFTPA2	TERT
HP_NOCTURNAL_SEIZURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NOCTURNAL_SEIZURES	LGI1	KCNT1	DEPDC5	CRH	CHRNB2	CHRNA2	GPHN	NPRL2	SPTBN1	SATB1	GRIN2A	GLRA1	CABP4	NPRL3	CHRNA4	RELN
HP_ELEVATED_CIRCULATING_ASPARTATE_AMINOTRANSFERASE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CIRCULATING_ASPARTATE_AMINOTRANSFERASE_CONCENTRATION	TTC26	NSMCE2	VPS13A	USP53	MRPL3	HADHB	SUCLG1	ASL	SLC51B	SLC37A4	PRKCD	OCRL	CYP7B1	PGM1	HMOX1	NR1H4	PEX16	SLC2A2	SMPD1	PEPD	MARS1	LIPA	BAAT	DEF6	NFS1	KIF12	COG8	SCO1	HADHA	ATP6AP1
HP_SPASTIC_PARAPARETIC_GAIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPASTIC_PARAPARETIC_GAIT	KIF1A	AMPD2	ATP6AP2	FARS2	SLC39A14	KIF5A	SHMT2	FBXO7	ARL6IP1
HP_LEG_DYSTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEG_DYSTONIA	PARK7	VPS16	AOPEP	GFM2	FTL
HP_ARM_DYSTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARM_DYSTONIA	SYNE1	VPS16	DLAT	SPG11	FUS	ALS2	SPTLC1	AOPEP	SIGMAR1	FTL
HP_ELEVATED_CIRCULATING_ALANINE_AMINOTRANSFERASE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_CIRCULATING_ALANINE_AMINOTRANSFERASE_CONCENTRATION	TTC26	NSMCE2	GAA	VPS13A	USP53	MRPL3	SUCLG1	SLC51B	PKHD1	SLC37A4	PRKCD	OCRL	CYP7B1	PGM1	HMOX1	NR1H4	SLC2A2	SMPD1	MARS1	LIPA	BAAT	TKFC	SLC25A13	DEF6	NFS1	KIF12	SCO1	ATP6AP1	FADD	BCAT2
HP_ABNORMAL_URINE_CARBOHYDRATE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_CARBOHYDRATE_LEVEL	CASP10	GAA	FUCA1	KRT18	DCXR	SLC25A13	SMAD4	IL1RN	TTC37	GALK1	KHK	FBP1	APC	GALT	MUTYH	GK	ERBB2	PIK3CA	TKT	MAN2B1	RPIA	NEU1	MIR140	KRT8	OCRL	GALE	KRAS	IL1B	GLB1	IRF1	TP53	STK11	KLF6	SNX14	MANBA	FGFR2
HP_ABNORMAL_URINE_CARBOXYLIC_ACID_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_CARBOXYLIC_ACID_LEVEL	TMEM70	AUH	ARG1	HPD	TIMM50	TAT	KIF1B	CPOX	ACADM	MVK	ASL	DBT	HMBS	OPA3	PCCA	SDHA	ALAD	OXCT1	MICOS13	POLG	BCKDHA	UROC1	HGD	SUCLG1	ATAD3A	UMPS	SLC25A15	SLC7A7	UROS	CLPB	TAFAZZIN	GATA1	PCCB	BCKDHB	ALDH5A1	DNAJC19	NDUFB10	ATP5F1D	ATP5F1E	HTRA2	ASS1	ATPAF2	HMGCL	RET	SERAC1	PAH	AGK	PPOX
HP_ABNORMAL_PULMONARY_THORACIC_IMAGING_FINDING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PULMONARY_THORACIC_IMAGING_FINDING	HYDIN	IFNGR1	FASLG	IL12A-AS1	ZMYND10	COMT	IL12A	DRC1	SFTPB	B3GALT6	CCDC40	TP73	DNAH5	LPIN2	SLC41A1	STK36	PRKCD	ASAH1	DNAAF11	TBX1	TLR4	CTLA4	DNAAF2	SPAG1	ODAD1	CCR6	DNAL1	GAS8	RASGRP1	TTC12	TERT	IRF5	CCDC39	CCNO	IL10	RIPK4	HLA-DRB1	ABCA3	CFAP298	EIF2AK4	FOXJ1	HLA-B	DNAAF4	ODAD4	SFTPA1	ERAP1	DNAAF5	LRRC56	BMPR2	RPGR	RAB27A	TSC1	RSPH4A	FOXP1	RSPH1	CSF2RA	DNAAF3	IL2RA	DNAH9	BACH2	CCDC65	BTNL2	PAX3	CASP10	CCN2	ARVCF	DNAI1	OFD1	SMPD1	CSF2RB	NHLRC2	UFD1	LAMA2	STAT4	DNAI2	UBAC2	SPEF2	RTEL1	DNAH1	JMJD1C	SFTPA2	DSP	STAT3	FAS	MEFV	RSPH3	HIRA	MCIDAS	PLEC	TERC	SFTPC	FAM13A	GAS2L2	C4A	CCDC103	PRTN3	CFAP300	OCRL	HLA-DPA1	RSPH9	ODAD2	PARN	APOE	HLA-DPB1	BIRC3	KLRC4	DNAAF1	CXCR4	TSC2	NEK10	MUC5B	ODAD3	SLC34A2	CCR1	CAV1	ATP11A	COL3A1	PDGFRA	DPP9	IL23R	DNAJB13	SEC24C	RREB1	DNAH11	GP1BB	BCL10	NME8	UBA1	GBA	NKX2-1	CFAP221	PTPN22	DNAAF6	MYD88	STN1	MALT1
HP_DIMINISHED_ABILITY_TO_CONCENTRATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIMINISHED_ABILITY_TO_CONCENTRATE	TWNK	EMC10	HERC2	POLG	DYM	TBL1X	SPTBN1	TREX1	ERF
HP_HETEROPHORIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HETEROPHORIA	HOXB1	HACE1	TRAPPC11	SCN8A	KIDINS220	TBX1	AFF4
HP_HETEROTROPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HETEROTROPIA	KDM6B	UNC80	ACADSB	MYO9A	AGRN	ZEB2	PYROXD1	NDN	TRIT1	LCA5	DPM1	CDC42	TAF2	KIDINS220	PRPS1	MYF5	MRPS34	FBXW11	DDOST	FGFR3	KDM1A	LRAT	PHOX2A	AHDC1	FAM149B1	PIGW	MED12	ERCC3	TMEM231	EXOSC5	KIF21A	PUF60	ATAD3A	MPLKIP	TMEM216	SLC25A1	RNASEH1	WARS2	ARHGAP31	RRAS2	RPL10	SOBP	PIGL	GTF2E2	RPE65	NEXMIF	SNAP25	HPDL	MADD	HUWE1	DPAGT1	PTRH2	COL6A1	CHST3	CHMP1A	NONO	SYT2	TYR	NALCN	CRIPT	LMNB1	CHAT	SREBF1	IRF2BPL	PIGV	COL6A3	CLCN3	MYOD1	FGF10	NCDN	ATP1A3	GRHL2	LYRM7	TGFBR1	TUBB3	CLCN6	KIAA0753	CACNA1A	TBC1D23	ADAT3	COL11A1	MKRN3	PMM2	CPLANE1	SALL2	TOPORS	BLOC1S3	SOST	SOX5	GTF2H5	HMGB3	PDE4D	TARS1	ATRX	GRID2	RERE	GNB2	ZSWIM6	SMAD3	PIGN	WT1	GLRB	HOXB1	NPAP1	GALNT2	ERCC2	TGFBR2	COL6A2	DPP6	PWAR1	MAGEL2	AP1G1	DYRK1A	ALG9	ADNP	DNMBP	ADGRG1	RTL1	MC1R	THOC2	KCNMA1	ZEB1	PTEN	SNRPN	USP7	VAMP1	APC	SLC17A5	UBE3A	EXOC8	NGLY1	PPP2R5D	NMNAT1	RP1L1	OFD1	SYT1	COL8A2	SLC25A46	COG8	B3GAT3	TENM3	PGAP3	PHGDH	PRR12	GRM1	VSX1	SLC5A7	COL12A1	AHCY	KIF7	PGAP2	HADHA	NTNG2	EFNB1	RNF2	SPATA7	RNF113A	SON	CLP1	SLC18A3	ADD3	COL13A1	BCORL1	GNA14	NR2F1	GBA	P4HTM	ADARB1	LGI4	TMEM67	SIAH1	GALC	TCTN3	KAT8	ATOH7	MEG3	HNRNPH2	COL4A1	PDE6D	TBX1	SEC23A	ATP1A2	LAGE3	PIGO	HERC2	CYB5R3	SLC6A8	FGFR2	IARS2	DLK1	SCO2	EMC1	PWRN1	PIGT	POU4F1	OCA2	SLC35A2	RRM2B	MBD5	RORA	SLC1A3	SNORD115-1	ZC4H2	COL4A2	PAX6	NEUROD2	PIGY	OVOL2	PPP1R21	PEX5	CYB5A	SNORD116-1	ALG2	CRB1	BCOR	AMMECR1	PYCR2	FBN1	SLC38A8
HP_ABNORMAL_SPUTUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SPUTUM	HYDIN	TGFB1	SCNN1G	IL12A-AS1	COL5A1	ENG	ZMYND10	TGFBR1	IL12A	DRC1	LOX	CCDC40	FCGR2A	HLA-B	MAT2A	DNAH5	ELN	STK36	CFTR	DNAAF11	TLR4	CTLA4	IL17RA	F5	DNAAF2	SPAG1	ODAD1	DNASE1L3	DNAL1	CLEC7A	TTC12	CCDC39	BTNL2	CCNO	IL10	HLA-DRB1	SCNN1A	COL5A2	PRKG1	CFAP298	FOXJ1	DNAAF4	ACTA2	ODAD4	ERAP1	DNAAF5	LRRC56	GAS8	GDF2	RPGR	TSC1	RSPH4A	RSPH1	DNAAF3	DNAH9	TSC2	COL3A1	IL17RC	CCDC65	OFD1	TGFBR2	IL17F	MLX	IL12B	STAT4	FBN1	DNAI2	UBAC2	SMAD4	SPEF2	MFAP5	DNAH1	SMAD3	IFNGR1	MEFV	DNAI1	RSPH3	MCIDAS	GAS2L2	C4A	CCDC103	PRTN3	SMAD2	CFAP300	HLA-DPA1	RSPH9	TGFB2	FOXE3	ACVRL1	ODAD2	HLA-DPB1	KLRC4	DNAAF1	MYLK	NEK10	ODAD3	SLC34A2	CCR1	EIF2AK4	TGFB3	IL23R	HEY2	DNAJB13	SCNN1B	DNAH11	MYH11	FAS	TRAF3IP2	NME8	TLL1	CFAP221	GIMAP5	PTPN22	DNAAF6
HP_DECREASED_VIGILANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_VIGILANCE	CDKN2B	PLP1	CACNA1A	CDKN1B	CDKN2C	PRRT2	CDKN1A	ATP1A2	MEN1	SCN1A
HP_FOCAL_CORTICAL_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_CORTICAL_DYSPLASIA	NUP133	TSC1	DEPDC5	AKT3	CNTNAP2	COL4A1	NPRL2	TSC2	MTOR	NPRL3	PIK3CA
HP_FOCAL_CORTICAL_DYSPLASIA_TYPE_II	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_CORTICAL_DYSPLASIA_TYPE_II	TSC1	TSC2	MTOR	DEPDC5	NPRL3
HP_HYPEREOSINOPHILIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPEREOSINOPHILIA	NLRP1	TRAC	CARD9	EXTL3	IPO8	SPINK5
HP_GASTROINTESTINAL_EOSINOPHILIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROINTESTINAL_EOSINOPHILIA	TGFB1	TGFB3	SMAD3	TGFBR2	TGFB2	TGFBR1	JAK1
HP_ABNORMAL_MALE_URETHRAL_MEATUS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MALE_URETHRAL_MEATUS_MORPHOLOGY	RERE	DKC1	AR	COMT	RPL10	ZEB2	CDC6	GATA4	CDKN1C	RTTN	GATA1	SRCAP	RAD51	SMG8	KANSL1	GPC3	COX7B	MAMLD1	CDC42	FANCC	PEX3	PIEZO2	CYP21A2	SUCLG1	NELFA	RPL18	FANCF	HCCS	ERCC4	GPC4	FANCD2	PITX2	IGF2	LETM1	FZD2	HSD3B2	CHRNG	DNAJC19	FGF10	SMARCA4	CTC1	EVC2	ARX	WT1	ESCO2	COLEC11	FANCL	CILK1	FRAS1	SMC3	PLAG1	MID1	RAC1	EHMT1	PNPLA6	MED25	CYP17A1	PTPN11	SOX2	SMARCB1	GLI3	EFNB1	CPLX1	FREM2	COLEC10	MAD2L2	FANCA	PEX6	RPL27	ARID1A	WNT7A	SPTBN1	KARS1	DYNC2LI1	PSPH	FGFR2	RPL35A	ABL1	PAX6	RPS10	RTEL1	RPS26	WNT4	NIPBL	FLNA	PEX12	SOX11	TMEM94	POR	HNF1B	PDE4D	ATRX	TONSL	PRDM16	SMS	ARID1B	RPS15A	CSPP1	OBSL1	TMEM63A	DHCR7	NSD2	CREBBP	BCOR	PPP1R12A	PIGN	FANCB	FAT4	DVL1	DYRK1A	ARL6IP6	FANCI	STAR	PEX16	SMC1A	FIG4	HBA1	RPL15	SOX9	ADAT3	KDM6A	RAD21	VAMP7	ZFPM2	BDNF	NR0B1	KLHL41	USB1	TBX1	C2CD3	GMNN	SRD5A2	ZMPSTE24	RBBP8	HOXA13	LIG4	BUB1B	RIPPLY2	PEX26	BICRA	BRD4	MYMK	MAPRE2	HMGA2	BMP4	MECP2	ATR	SMARCD1	OTUD5	CTBP1	WWOX	TERC	CYP11A1	RAD51C	FANCE	KIF7	DLL3	EVC	NEB	SIAH1	PEX14	RPS24	WNT5A	EP300	TAPT1	ADA2	FDFT1	MKKS	SALL1	RPS19	FGFR1	PTDSS1	PEX1	CLMP	CCDC8	SMARCA2	TUBB	KLHL40	KDM3B	B3GLCT	CYB5A	RLIM	ATP6AP2	TERT	ORC6	BRCA2	XRCC2	NDUFB11	THOC6	GRIP1	CDT1	WDR35	GP1BB	KIAA0753	AFF4	BRCA1	PQBP1	GATAD2B	KAT5	ORC1	PIGG	LMOD3	SRY	HDAC8	ORC4	ARID2	TRIM8	SMAD4	MTOR	BRAF	MCTP2	ISL1	PRKAR1A	UBR1	TFAP2A	PSMD12	RPS17	RPS7	MTM1	VAC14	TBX22	ZMIZ1	ALG12	RPS28	PRKCZ	DCHS1	TP63	CHRNA3	SIX6	RPL35	PTPRF	UBE4B	MESP2	ARCN1	ARVCF	LMNA	RPL5	SCUBE3	GLI1	HOXD13	CDH11	NOTCH2	CUL4B	UFD1	LSS	KDM5B	HUWE1	RPS27	NSD1	ZNF699	DACT1	TMEM70	MAB21L2	USP9X	SOX4	NR5A1	HIRA	PALB2	KCNAB2	SETD2	SMARCC2	NPM1	SAMD9	RPS20	HYLS1	WASHC5	COG1	MNX1	FANCG	PEX19	LFNG	MMP23B	POLR3A	CDC45	CUL7	NKX2-1	SETD5	SETBP1	PDPN	SMARCE1	FGFR3	NSUN2	SPRED1	RAF1	NAA10	SEC24C	RSPO1	NHP2	FOXC1	PARN	FANCM	APC2	HSPG2	FGFRL1	SPEN	MAP3K1	PEX11B	SPECC1L	FBXL4	KIAA0586	POLE	BRIP1	FOXF1	PEX10	PEX13	DPF2	KDM1A	SSR4	PEX5	SLX4	NDUFS4	SLC25A10	DVL3	HBA2	COL3A1	PUF60	ACTA1	SYNGAP1	RPL11	CDCA7	CASZ1	KRAS	ERMARD	UBE2A	RPL26	SIN3A	JMJD1C	CCDC22	DMRT3	NOP10	UBA1	UBE2T	MAP2K1	KMT2D	PEX2	MED12	LUZP1	MED12L	HES7	B9D2	NDUFA8	ZMYM2	RPL31	TTC8	TTC37	DHX37	CARS1	RFWD3	TINF2	GABRD	SKI	WRAP53	RPS29	EPG5	TSR2	RREB1	PCNT	KIFBP	SMCHD1	ATPAF2	OGT
HP_UNUSUAL_INFECTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNUSUAL_INFECTION	NDE1	IL12A-AS1	ELN	IL12A	MYO9A	WAS	AGRN	ZEB2	TBCE	TIMMDC1	PYROXD1	REL	CCDC40	FCGR2A	DLK1	NDN	RIPK1	POLA1	TXNRD2	DPM2	TBX20	CLEC7A	JAK3	AGA	CDC42	MNX1	IL6ST	PIK3R1	DNAAF5	RYR1	FANCC	SNRPN	TERC	COL6A2	TNFRSF13B	PNP	TCIRG1	EIF4H	TCF3	TAP1	RUNX2	ERCC3	FANCF	NKX2-5	ERCC4	TTC26	TTC12	FANCD2	MALT1	PSAP	ODC1	FBLN5	USB1	LRRC56	ERAP1	UBB	SCNN1A	UMPS	WDR19	TRAC	ALOXE3	CD3D	RSPH1	IKZF3	TBCD	CTC1	TECPR2	RPL10	C1QA	PHKB	COLQ	OFD1	TAPBP	ASAH1	GBA	DEF6	PRF1	CRKL	IRF2BP2	BLNK	LTBP1	STAT4	ERCC2	SERAC1	FOXJ1	CASP8	RNU7-1	CORO1A	DNAAF1	RAC1	EHMT1	CIITA	LRRC8A	GMNN	IL12RB1	IGHM	SMARCB1	NLRP3	MEG3	SMARCAL1	STAT3	CDH23	MASP2	CPLX1	SLC46A1	CTNNB1	RMRP	MAD2L2	SHANK3	MED13L	FANCA	ALG3	KMT2C	GALC	SPTBN1	JAK1	KNSTRN	RSPH9	UNC93B1	KDM6A	CHAMP1	ELANE	LAMB3	COL6A3	SGSH	CACNA1B	LYST	DDX6	L2HGDH	MSN	SRP54	ALMS1	DNAAF6	LCP2	RTEL1	NFKBIA	DNAH5	TTC37	FUCA1	TBX1	GATA4	UROS	MAGEL2	ODAD3	RTL1	TARS1	TONSL	ARID1B	IRF6	MEFV	HYOU1	TSEN54	CSPP1	DNAJB13	SCN10A	GCLC	METTL27	KATNIP	NPAP1	DHCR7	CFAP298	CREBBP	BCOR	TRIP4	NKX2-1	DYRK1A	NCF4	HBB	ESS2	POU2AF1	FLNA	FADD	OCA2	PKD1	SP110	PKHD1	SCNN1G	PTPN22	GANAB	AIRE	PLOD1	IDS	MESP2	CARD9	MYPN	ADAT3	MYL9	CHRM3	COL13A1	INSR	NPHS1	GALNS	IL7	DRC1	CCDC39	VPS4A	IL21	DNAAF11	EGFR	IL17RA	MAN2B1	SPAG1	COL4A6	ODAD1	DNMT3B	NGLY1	FARSB	LBR	CD19	CTLA4	FGFR3	NLRC4	CORIN	ADAMTS3	CD79B	TNFRSF1A	UBE3B	SLC5A2	MGP	FKBP6	POMP	MS4A1	TPP2	RNF113A	FLT1	IL2RB	IRF5	SMARCD1	GLIS3	HELLS	ICOS	CCDC65	DGCR2	PRPS1	PLCG2	ITCH	GOT2	BUD23	IL17F	FANCE	DNAJC30	MBTPS2	SLC6A14	ATP6AP1	GLI3	SH2D1A	RNU4ATAC	STX11	RAG1	FLI1	SIAH1	SNX10	BCL11B	TET2	CEBPE	KRT5	IGBP1	CTPS1	TERT	TTC7A	PTEN	DBR1	SDR9C7	VPS37D	AASS	DCLRE1C	IFNG	GUSB	CSF3R	EP300	SFTPC	C4A	CR2	HACD1	HYAL1	DNAJC21	PDHA1	SLC26A2	TFE3	DNAJB11	CLPB	LIPN	SNORD115-1	ADA	STK4	PIGU	CFAP52	SLC29A3	SPPL2A	SCNN1B	CXCR4	ANTXR2	IARS1	MBL2	IL2RG	ZNFX1	IRAK4	FIP1L1	ATP6AP2	HLA-B	IFIH1	DISC1	SMPD1	C1R	ORC6	DEAF1	XRCC2	IFNAR2	PRKCD	THOC6	COG4	DNAH11	GSTM3	LEP	IKBKB	ADA2	MVK	BRCA1	ACP5	POLR3GL	TNFRSF11A	PIGG	EFL1	HLA-DRB1	ZMYND10	ALDH18A1	PURA	TBX21	GFI1	CD8A	ABCA12	STAT5B	PET117	PSEN1	ODAD2	ZBTB24	DSG1	CTCF	DDOST	LAMA3	ISL1	HSPA9	COL5A2	RAC2	SLC7A9	ALG12	AICDA	PTPRC	VPS51	RELB	UGP2	ARPC1B	IDUA	RAG2	EIF2AK3	NCF2	NECTIN1	CD247	UNC119	TNFSF12	ALPL	MANBA	CTSC	CARD11	C8A	EN1	UBAC2	ECM1	DYNC2I2	ADNP	ADORA2A	CD27	TMEM70	MTM1	SYT2	RALGAPA1	MDM4	SLC37A4	CFI	CRIPT	MCIDAS	PALB2	INPPL1	CHAT	NPM1	C7	ARHGAP29	TSEN15	WASHC5	COG1	CLCN7	FANCG	EDNRA	OCRL	MYD88	STOX1	LMNB2	MC2R	PSMB4	CD70	TSC2	SETBP1	PHKA2	GJB2	CCR1	HGSNAT	LEPR	NSUN2	MYL2	SLC25A22	ELP1	MAPK1	GAS2L2	LONP1	CDCA7	CLDN19	NHP2	TRAF3IP2	TLL1	TRIM37	CD79A	ZBTB16	ANAPC1	CFH	CCNO	MYH3	TGFB1	IGKC	NCF1	ITK	NHEJ1	G6PC3	PKD2	ZAP70	RFXAP	CD3G	NFKB2	KIAA0586	FOXC2	VAMP1	BPTF	B3GALT6	MAGT1	SPTBN4	GRM7	HMOX1	SBDS	KRAS	RASGRP1	MYO5A	RBCK1	TMC8	TRIP11	MTHFD1	SLX4	PSMB9	DNAI2	SCN11A	BCL10	DLL3	LRIG2	RPGR	PCYT1A	RFXANK	IL2RA	ALG13	BAZ1B	ATM	RNF2	FMR1	JAGN1	TCTN3	WIPF1	KPTN	MAP3K7	RNF168	CD81	POLE	MRAP	UBE2A	PLP1	SIN3A	SYK	SHROOM4	SELENON	SEC61A1	CCDC22	NUMA1	PCGF2	BTD	NOP10	FMO3	HERC2	UBE2T	NBN	BRAF	GLUL	TAOK1	CCBE1	HEPHL1	FCHO1	STX3	C1QB	STK36	TBL1XR1	ASXL3	ATN1	TNFSF15	SLC35C1	GAA	STXBP2	SOCS1	TGM1	FCGR3A	NEK10	TK2	RFWD3	IL7R	TINF2	WDR1	EPG5	RPL11	GRIA3	DGCR8	ACVRL1	SLC7A7	CLIP2	EXTL3	FAS	GTF2IRD1	GJB6	SERPINA1	RAB27A	CD4	BTK	COG7	HYDIN	TNPO3	LCK	DKC1	IFNGR1	BNC2	SKIV2L	SRCAP	RAD51	TNNT2	KANSL1	PIK3CD	COL6A1	HAX1	GTF2I	NFE2L2	AK2	ARSL	DNAAF2	LMNB1	ROR2	ZNHIT3	SCN9A	YY1	SUCLG1	NELFA	MED12	C6	LAMTOR2	DZIP1L	WFS1	TRIO	ALG1	CFB	MPLKIP	SDCCAG8	PEX5	SLC25A1	LETM1	ODAD4	TAFAZZIN	VANGL1	ALG9	SMARCA4	XIAP	DDR2	USP8	DNAI1	GTF2E2	NABP1	ALB	DLG1	STAT1	FOXN1	LAMA2	FANCL	NTRK1	SMN1	TBX6	ITGB2	HPGD	ERF	PHKG2	DNAH1	SH3KBP1	TFRC	WAC	ITGA7	BCHE	NAGLU	PLEC	SLC1A4	SREBF1	BCL7B	ARID1A	MIF	CFAP300	TNXB	PSENEN	HLA-DPA1	IKZF1	MKRN3	BIRC3	WDR26	IKBKG	TASP1	MYH11	NEPRO	SOX11	MED25	TBK1	MAP3K20	SMARCE1	KCTD1	MSX1	NXN	SLC2A1	TF	IGLL1	ACTA1	RSPH3	STIM1	FANCB	APRT	AKT1	FANCI	GATA2	LRBA	TLR3	BCL6	ANKRD17	COL5A1	ENG	EFEMP2	ASXL1	CEACAM6	POLR2A	CISD2	KCNJ6	TP73	PLG	DNAAF4	BCL2	SLC41A1	USP9X	TLR4	RAB3GAP2	DNASE1L3	RFC2	MRTFA	CD55	SMARCA2	SMARCD2	LIG4	CYBB	TYK2	PML	FERMT3	TPM2	TNRC6B	SLC5A7	UNG	SPIB	RFX5	TNFRSF13C	NFKB1	NCKAP1L	FOXP1	SON	IGHG2	BLM	AP3B1	CTBP1	COL2A1	KRT14	RAD51C	MCM10	ACTC1	FOXP3	TLR7	TRAIP	CFTR	PCNT	CLTRN	SPINK5	SLC39A4	BICC1	CYBC1	UROD	IFNGR2	MYSM1	CFD	ATRX	SAMD9L	KIF1A	ADAM17	PRTN3	COG6	CYP4F22	SLC3A1	TBC1D24	PEPD	HLA-DPB1	CFAP410	EXOSC9	ARSB	CCDC103	NAA10	PSMD12	UNC13D	KCNN4	SATB1	B2M	IL23R	BRCA2	PRKDC	TRPS1	IVNS1ABP	GRHL3	SNORD116-1	MCM4	WASF1	NBEA	CFAP221	EDARADD	C1QC	SLC6A19	GNPTAB	KAT5	FLNC	MLXIPL	PLEKHM1	SRY	STING1	ARID2	IRF4	MGME1	ZNF341	DGCR6	LIMK1	STAR	SLC39A8	VPS33A	COL11A2	MMEL1	PSMB8	DOCK8	GRHPR	PGM3	KAT6B	IER3IP1	KMT2D	IRF8	TOP3A	CARD10	GAS8	TSC1	CD3E	MNS1	CHRNA3	MPEG1	CD40LG	DNAAF3	SLC26A9	BACH2	IL17RC	NSD2	SLC35A1	TPM3	KIF20A	SNAP25	NOTCH2	NRAS	NHLRC2	DCTN4	IDH1	MINPP1	FCN3	HPSE2	DDB1	HPS6	SPEF2	ZNF699	AP3D1	EOMES	NIPAL4	SLC35A2	TP63	TNNI3	SOX4	LAMB2	EYA4	PRKAR1A	SMARCC2	TSEN34	CACNA1C	SAMD9	PGM1	LAMC2	NNT	FCGR3B	ALOX12B	MECP2	SEPSECS	TBC1D23	IL10RA	C4B	POLR3A	IL6R	KIF15	SLC9A3	EXT1	TNFSF11	P4HA2	GTF2H5	MGAT2	GNB2	GLB1	TBL2	KRT1	PWAR1	PARN	DYM	GINS1	CARMIL2	GIMAP5	A2ML1	CYBA	FANCM	GNS	CLCA4	SNORA31	FBXL4	CCDC47	RARA	TMEM270	CAVIN1	BRIP1	DNAL1	FAT4	TSEN2	VPS45	HFE	IL10	ATP6V0A2	DPF2	DLX4	LMBRD1	CD40	ISG15	KDM5C	SETD2	C8B	SIM1	STX1A	C5	RSPH4A	CITED2	DNAH9	ORAI1	AGXT	COL4A5	BMP4	SLC18A3	ARL3	TOM1	SIK1	MYH6	ITGA3	C3	P4HTM	CEACAM3	BCR	GTF2IRD2	CLDN16	MIR140	FLVCR1	GATA6	IL21R	RPS14	LAT	NME8	ATP7A	SETD1A	PWRN1	SULT2B1	UROC1	SF3B1	IRF9	PKP1	HLA-DQB1	KLRC4	PRDM12	HOXA13	GATA1	WRAP53	SLC11A1	PPP1R21	TAP2	NDUFC2	SLC52A3	TICAM1	IRF3	CDH1
HP_SACCADIC_OSCILLATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SACCADIC_OSCILLATION	SLC6A3	SLC35A2	CLCN7	TNFSF11	SNX10	KIF1B	VPS13D	ATP1A3	ATP1A2	CACNA1A	SLC1A3	GBA	TMEM240	TCIRG1
HP_CONJUNCTIVAL_ICTERUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONJUNCTIVAL_ICTERUS	PKHD1	SLCO1B3	PIGA	PIEZO1	SLCO1B1
HP_LIMBAL_STEM_CELL_DEFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMBAL_STEM_CELL_DEFICIENCY	GJB6	NLRP1	FGFR2	FGF10	PAX6	GJB2	FGFR3	DDR2
HP_ABNORMAL_PERIPHERAL_NERVOUS_SYSTEM_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PERIPHERAL_NERVOUS_SYSTEM_PHYSIOLOGY	GDAP1	AIFM1	MOGS	TPI1	NOTCH2NLC	LITAF	RAI1	NALCN	SPTLC1	SEMA6B	YEATS2	FBXO38	PMP22	LMNA	FXN	FLVCR1	PLA2G6	PNPT1	TIMM8A	MTMR2	PSAP	ATXN1	CYP27A1	MPZ	LIG3	NEFL	SBF1	NHLRC1	HSD17B4	TRPV4	SACS	CHCHD10	IGHMBP2	CTDP1	ARSA	FBLN5	IDUA	GALC	CCT5	REEP1	LAMA2	DNM2	LRSAM1	HPDL	MYH14	PTRH2	NTRK1	SLC12A6	SBF2	PLP1	EGR2	MFN2	SPTLC2	JPH1	HK1	SH3TC2	SORD	ERCC8	ATXN10	MED25	SUCLA2	EPM2A	KIF1A	DIAPH3	SYT2	LYST	NDRG1	GJC2	CPLANE1	SPG21	FIG4	EBP	GJB1	PNKP	OPA1	DEGS1	RAB7A	TYMP	ERCC4	SOX10	FGD4	TBC1D24	DYNC1H1	MYH3	SCN9A	CADM3	PRX	WNK1	SNAP29	SAMD9L	CEP126	ERCC3	PRPS1	VCP	SPTBN4	NMNAT1	ATL3	SUMF1	LTBP3	MORC2	ATL1	SLC25A15	DHH	ERCC6	MTRFR	RRM2B	UQCRC1	NEU1	FAM126A	TBC1D20	ARHGEF10	OTOF	PDK3	HSPB1	NFASC	HSPB8	NGLY1	MFF	BSCL2	VPS13A	ABCD1	TFG	POLG	RETREG1	PLEKHG5	FBN1	DCAF8	GFM2	MATR3	AARS1	SAMD12	KIF1B	EDNRB	ABHD12	SIGMAR1	MARCHF6	LMNB1	SETX	PEX6	MPV17	COMP	GARS1	STARD7	DHX16
HP_VERY_LOW_VISUAL_ACUITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERY_LOW_VISUAL_ACUITY	COL8A2	VSX1	ZEB1	GRHL2	OVOL2
HP_DECREASED_CIRCULATING_TOTAL_IGG	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_TOTAL_IGG	CD81	MS4A1	CD19	PIK3CD	CR2	ATP6AP1	IVNS1ABP	KNSTRN	SYK
HP_DECREASED_CIRCULATING_IGG_SUBCLASS_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_IGG_SUBCLASS_LEVEL	EPG5	ATM	CD247	CR2	PIK3CD	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	CD70	CD81	RAC2	PIK3CD	ALG12	CTPS1	REL	ICOS	CARD11	KNSTRN	IRF2BP2	CD19	RIPK1	TNFRSF13C	CD247	HYOU1	LRBA	CARMIL2	CASP8	TNFRSF13B	CR2
HP_EPISODIC_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISODIC_PAIN	NF1	SDHB	CDC73	HEXB	SDHD	RET	ATRX	TGFBI	KIF1B	DNMT3A	SDHA	TXNRD2	MEFV	FLI1	DLST	LEMD3	DAXX	ESR1	NNT	TMEM127	SDHC	MC2R	SDHAF2	EPAS1	SLC25A11	CDKN1B	LPL	ERBB3	MAX	VHL	MRAP	CPT2	STAR	FH	PIGA	GNE	MDH2	F12
HP_KERATOSIS_PILARIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KERATOSIS_PILARIS	COL12A1	ODC1	GJA1	CARD14	GNB2	BRAF	LZTR1	KRT81	COL6A1	RAF1	SHOC2	NRAS	SOS2	FLG	NLRP1	WNT10A	MAP2K1	HEPHL1	KRT83	COL6A2	COL6A3	SOS1	KRT86	MBTPS2	KDF1	LRP1	KRT16
HP_JOINT_SUBLUXATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_SUBLUXATION	COL2A1	PLOD1	XYLT1	EFEMP2	MMP2	FBLN5	MADD	GALNS	COL1A1	GLI3	GLB1	COL1A2	PUF60	DDR2	FLNB	CHD7	B3GALT6	ADAMTS2	ARSL	COL5A1	TNXB	RMRP	IDUA	LTBP1	KIF22	SEMA3E
HP_APHTHOUS_ULCER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APHTHOUS_ULCER	HLA-B	FASLG	IL12A-AS1	NOD2	IL12A	MVK	HLA-DQA1	FAS	CCR1	ERAP1	IFNGR1	MEFV	GFI1	IL6	WDR1	NLRP3	DCLRE1C	HYOU1	NLRP12	ORAI1	PRKCD	IL21	IL23R	CASP10	C4A	TLR4	PRKDC	RASGRP1	IL10	ADA2	ELANE	STAT4	SRP54	UBAC2	TCIRG1	CARMIL2	NCF4	KLRC4	IL17RC	HLA-DQB1
HP_ABDOMINAL_CRAMPS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABDOMINAL_CRAMPS	ASXL1	RUNX1	TET2	SRSF2	CBL
HP_UNUSUAL_INFECTION_BY_ANATOMICAL_SITE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNUSUAL_INFECTION_BY_ANATOMICAL_SITE	TLR3	CIITA	BCL6	PTPN22	NDE1	IL12A-AS1	ENG	PIK3R1	IL12A	CARD9	WAS	ICOS	NCF1	CYBA	IRF4	BCL2	MEFV	SNORA31	IL7	JAK3	RFXANK	RFXAP	HLA-B	CD79A	TLR4	LBR	CTLA4	STAT1	DNASE1L3	MRTFA	IL10	RFX5	CD19	BLNK	NLRP3	TCF3	NLRC4	CFB	C8B	BCL10	ERAP1	VANGL1	CYBB	TNFRSF13C	NCKAP1L	CD40LG	RAG2	XIAP	NCF2	WIPF1	PRF1	STAT4	C8A	PGM3	UBAC2	FOXP3	SH2D1A	CLTRN	STX11	CD27	TMEM70	RAG1	TFRC	IGLL1	HLA-DRB1	LRRC8A	IFNGR1	IGHM	CFI	DBR1	ATRX	IL2RG	BTK	FCGR3B	C4A	PRTN3	IKBKG	HLA-DPA1	MYD88	UNC93B1	L2HGDH	SLC35C1	STXBP2	C4B	TNFRSF13B	HLA-DPB1	KLRC4	CR2	CXCR4	P4HA2	CCR1	UNC13D	TBK1	HYOU1	IL23R	ACVRL1	FAS	CYBC1	MVK	NCF4	TICAM1	IRF3	CD79B	CARMIL2	SLC6A19
HP_UNUSUAL_SKIN_INFECTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNUSUAL_SKIN_INFECTION	MVK	PGM3	NCKAP1L	CARD9	CARMIL2	IKBKG
HP_MOLLUSCUM_CONTAGIOSUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOLLUSCUM_CONTAGIOSUM	MVK	PGM3	NCKAP1L	CARMIL2	IKBKG
HP_SEVERE_INFECTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_INFECTION	CD70	IGKC	CD27	RAG1	FCGR3A	TGFB1	PTPRC	ZNFX1	CTPS1	REL	CD3E	ITK	IL7R	TPP2	CD3D	IL2RA	IL7	PRKCD	RAG2	IKZF3	TET2	XIAP	FOXP3	FCGR3B	LAT	RAC2	IGHG2	BLM	CD247	PRPS1	MECP2	TOM1	DEF6	MAGT1	MCM10	PGM3	TMC8	ELANE	TLR7	SH2D1A	ADORA2A	IKBKG
HP_SEVERE_VARICELLA_ZOSTER_INFECTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEVERE_VARICELLA_ZOSTER_INFECTION	CD70	CD27	FCGR3A	TGFB1	RAC2	BLM	PGM3	IL2RA	CTPS1	MAGT1
HP_ABNORMAL_CIRCULATING_GLOBULIN_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_GLOBULIN_LEVEL	RFX5	ALB	RFXAP	CIITA	SERPINE1	RFXANK	PLG	TF
HP_ABNORMAL_CIRCULATING_METABOLITE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_METABOLITE_CONCENTRATION	TP53	CACNA1S	FAM111A	SLCO1B3	MYO5A	UMOD	GNA11	TBCE	PYROXD1	UQCRFS1	ABCD1	TXNRD2	DPM2	PRKCSH	FAH	SKIV2L	TCIRG1	GATA3	DYSF	CTNS	HSPG2	UNC45A	ZMPSTE24	TMPRSS6	SUCLA2	LDLRAP1	PEX7	USB1	MYH7	KRAS	TWNK	MT-TK	IRF6	PAX2	PTPRO	HSD3B2	MYF6	DLST	PRDM16	PYGL	TBCD	TRAF3	LAMA2	PHKB	DMP1	COG2	MARS1	DEF6	POLG	PRF1	ACADVL	ATP6V0A4	ADK	FTL	PEX5	GLYCTK	PSTPIP1	APOC3	CIITA	CYP17A1	GLRX5	TIA1	IL12RB1	CLCN5	CAV1	PHYH	COQ9	NLRP3	MEG3	CASR	NDUFS8	UNC93B1	SGCG	ATP6V1A	CYP7A1	EHHADH	CAV3	LAMB3	TJP2	PIK3C2A	SLC2A9	FAM20C	SLC34A3	RAI1	NUP37	PDP1	CALM3	TRAPPC11	IL1RN	ITGB4	LRP5	SLC39A14	UROS	RTL1	POLG2	AMT	PCSK9	APOA5	GALNT2	INS	GNPTAB	CLCNKA	FKTN	HBB	APOE	ESS2	POU2AF1	VHL	DCDC2	ZPR1	PKHD1	KCNA1	GAPVD1	ALMS1	LACC1	CARD9	DNM2	SLC12A1	PLA2G6	POMGNT1	PEX11B	NPHS1	NR0B1	NDUFAF4	GNAS	TBX1	SDHAF2	PDHX	CD46	ALAS2	DES	SCN4A	HLA-DRB1	NUP214	MYPN	QRICH1	NLRC4	CORIN	ADAMTS3	MYBPC3	FBN1	SLC25A13	INVS	GCM2	LIPC	PCCB	DCAF17	SPATA5	SLCO1B1	RET	DGCR2	RYR1	RRM2B	MICU1	DNAJB6	PEX6	FKRP	WDR19	CLCNKB	BUD23	ABCB11	COL6A2	GCH1	LMNA	PMM2	DPAGT1	ALG6	DNAJC30	SPTB	SDHB	ATP6AP1	SLC34A1	STX11	NLRP1	VPS13A	SNX10	CYP11A1	KLHL41	AASS	PLA2G7	DEAF1	RHD	RNASEH1	LYST	CBS	LDHA	OSGEP	MMAB	ERCC8	PDHA1	FHL1	DNAJB11	MT-TE	AVPR2	MT-ND6	POMT2	B4GAT1	SCNN1B	TMEM260	ACTA1	PEX13	KIF1B	ITGA7	YARS1	LCAT	DYRK1B	SMPD1	TMEM127	CLDN10	STX16	GLA	CDKN1B	ETFA	CELA2A	SGCA	DPM3	CEL	AKT2	NF1	GABRA3	EFL1	HPD	LBR	TBC1D8B	ABCC2	KCNJ11	TSHB	G6PC1	QDPR	PRPS1	DSG1	APOC2	ORAI1	CALM1	FOXRED1	MAX	SLC40A1	LAMA3	NSMCE2	LRP12	COL12A1	LIG3	DSG2	NUP85	ALG12	TPM2	ALDOB	GALNT3	PCK1	SLC25A20	STEAP3	NDUFB10	FHL2	UGT1A1	MYO1E	NDUFAF2	LARGE1	COL4A3	C3	UFD1	MAGI2	EMD	CCBE1	POMT1	HLA-DQA1	WNK1	MCCC2	HMGCL	GHR	SGCB	PIGT	NUP133	TMEM70	ARG1	KLHL3	SLC25A26	FGFR1	PITRM1	AGPAT2	CP	NUP107	CLCN7	LIPA	OCRL	HNRNPA1	SEMA4A	AIP	MSTO1	PSMB4	CAPN3	MDH2	ALDH4A1	SCN5A	KLF1	PLEC	FECH	CYP11B2	SLC30A9	TNFRSF11B	DUOXA2	ELP1	UBR1	NDUFA6	ABCG5	LONP1	NAB2	BCS1L	CPT2	NEB	AIFM1	STK11	NOS3	CACNA1C	CFH	ENO3	PIGA	APOB	MT-TF	CPOX	SDHD	KCNJ5	ITK	CTH	NDUFS3	HPRT1	ABCB4	GMPPB	PIK3R5	CAP2	PCBD1	NDUFB11	MPI	ABCA1	NAGS	CDC73	PC	NUP93	PHGDH	SCN4B	NOS1AP	PAFAH1B1	SCN10A	DGUOK	CUL3	PTH	MPC1	BAZ1B	FTCD	DUX4	SDHC	ACSF3	SLC4A1	EBP	TBL1X	RNF168	MRAP	RMRP	ABCC9	MT-TV	MT-ATP6	SLC25A38	SYK	NPHS2	COQ8B	CNNM2	PPARG	BTD	ABCB6	CFB	DUOX2	TRHR	CALM2	MMUT	CFTR	GLUL	SCO2	ANO5	LPIN1	HAND2	NDUFA11	DCLRE1C	FH	MT-CO1	TANGO2	MOCS2	TNFSF15	HLCS	STXBP2	HLA-DQB1	ACTN4	SLC25A15	NDUFV2	BCKDK	CSF2RA	GNMT	CCDC115	GPIHBP1	DGCR8	ARHGDIA	DAG1	MC2R	ISCU	MDH1	IQSEC2	ODC1	SLC7A7	CLIP2	MPV17	TBK1	GTF2IRD1	GATAD1	COG7	PKLR	COA7	FLCN	TTPA	COL6A1	LEPR	NEXN	MT-ND3	PREPL	G6PD	NDUFV1	GTF2I	CTLA4	ABCA2	ADSS1	HINT1	KRT5	SUCLG1	PEX19	TCF4	ACAT1	PGAM2	RHAG	COX5A	WT1	MT-TL2	GALK1	MCCC1	ALG9	KCNJ18	HFE	NDUFAF1	ALB	SYNE2	KCNE2	RASA1	NADK2	NDUFS1	LMAN1	PAH	THBD	FDX2	TSFM	CAVIN1	TBCK	DLD	WDR35	RPS20	LDLR	WDR4	POMK	AKAP9	WDR73	TRAPPC2L	SLC3A1	COL4A1	IYD	CFI	FGF23	SLC26A3	SLC25A4	HNF1B	SLC2A1	FRG1	POMGNT2	DOK7	ATP8B1	SPTA1	PIGN	DNAJC21	HK1	TRMT10C	ANK2	TLR3	HADH	NUP160	ALG14	TDP1	CHKB	MEN1	CD2AP	LMF1	SPINK1	IFT172	MEFV	NSUN2	CYP7B1	SIL1	XIAP	MYOT	FBP1	KCNN4	MICOS13	EMP2	CD55	TMTC3	SERPINE1	PNPLA2	TMPRSS15	PKD2	KRT18	SLC2A2	ELN	KCNJ1	LDB3	SPIB	RFX5	TRNT1	ABCC6	TNNT2	FOXP1	TCAP	FARSA	ETFB	CRYAB	PHEX	ANK1	ABHD5	CYP2R1	PLAU	MPO	TBX19	RFXAP	FOXP3	STAT6	BICC1	BMPR1A	CNBP	UROD	SLC19A1	AHCY	AGL	DNA2	PRTN3	COG6	PLA2G4A	CYP11B1	SECISBP2	PHKA1	APOA2	SYNE1	HLA-DPB1	MTTP	USP53	SLC22A12	UNC13D	B2M	CSF2RB	AMACR	HAMP	INSR	SETX	CHCHD10	PDSS2	OTC	AEBP1	CIDEC	SARDH	PPOX	SAR1B	LAMA1	MLXIPL	FN1	ACTN2	GPD1	TMEM67	NDUFB9	ABCD4	ALG8	XRCC4	TRPM6	SCNN1G	TKT	MGME1	MYH14	CFHR1	HAVCR2	TFG	BTNL2	DGCR6	CAMKMT	STAR	PRKAR1A	VPS33A	HADHA	PIEZO1	PSMB8	NR1H4	KLHL9	HADHB	TTN	NOS1	RAB27A	PTEN	TF	MOCOS	IL10	ARVCF	VCP	NDUFAF8	AR	TK2	KCNE1	MT-ND2	VMA21	BSCL2	SAMD9	NNT	PHKG2	COL7A1	SCNN1A	FLNC	CRB2	TYMP	ACAD9	ASS1	PANK2	MUC1	GSR	GLDC	FAM111B	SPR	PEX16	TIMM22	CRPPA	MVK	HHAT	HMBS	FBXL4	WNK4	NPPA	HCFC1	ENPP1	AQP2	FAT4	SEMA4D	LMBRD1	SCO1	ZBTB20	CDH23	NDUFAF6	STX1A	MC4R	RBM20	NDUFS4	GCK	COL3A1	AGXT	CYP27B1	MTHFR	BAAT	TMEM126B	REN	DHCR24	POGLUT1	NGLY1	AP1S1	JMJD1C	SLCO2A1	NR3C2	GTF2IRD2	MTX2	GPX1	PIGH	SDHA	OAT	DMD	PLEKHG5	MSMO1	PRKCD	TNFRSF11A	BCL10	CACNA1D	NEFL	APOL1	CA12	KCNJ10	COQ7	NUP205	JAG2	PTH1R	KCNE3	TRPC6	CEP19	ATP5F1D	HNRNPA2B1	ATPAF2	MTO1	CPS1	TRMU	IFNGR1	PRODH	TNNC1	B3GALNT2	CDKN2B	DLK1	HRAS	TBX5	L2HGDH	PDE8B	SQOR	PNP	TMPO	EIF4H	CYP27A1	TTC26	C1QBP	MT-TN	HTT	ASL	HAL	IL12A	ACOX2	PFKM	C19orf12	LRP6	TREX1	ARNT2	NDUFAF3	TG	SERAC1	ACADS	RNU7-1	SEMA3E	PYGM	MTR	TAT	HSD3B7	GOSR2	ABCD3	DBT	NEUROD1	GFPT1	SLC33A1	STIM1	KY	TKFC	SPTBN1	KARS1	PSPH	COL6A3	PHKA2	MMACHC	MTRR	GALM	SLC6A3	MIF	PRKACA	ITPR3	TTC37	PLG	ARMC5	BLK	PLCE1	PDX1	JAG1	FLI1	XK	GNE	TIMMDC1	METTL27	DHCR7	NPC2	MT-TL1	TRIP4	AKR1D1	PKD1	GATM	MT-ND1	CREB3L3	ERGIC1	GANAB	MYC	BAG3	PABPN1	IL37	NDUFA13	MIPEP	LIPT2	AP2S1	LIPT1	GALE	FARSB	PTS	COG8	TNFRSF1A	UBE3B	CYP24A1	NDUFS7	FKBP6	SYNJ1	TSHR	FLT1	IRF5	SRP54	RAF1	OTUD5	B4GALT1	GOT2	PEX10	PDK3	NFS1	PUS1	TFR2	HSD11B2	SLC5A1	TTR	TDP2	SLC25A42	CCND1	VPS37D	PEX14	IFNG	NLRP12	SGCD	FDFT1	CRLF1	SLC29A3	IARS1	ZNFX1	PSAT1	GLUD1	ERCC6	ATP1A1	ARHGAP24	MATR3	SLC30A10	ADA2	TAF1A	KCNJ2	CASK	PLN	NDUFB3	RINT1	BSND	MYL2	PEX1	ABCC8	ETFDH	PIEZO2	KCNQ1	SQSTM1	PET117	TICAM1	PEX12	SMARCAL1	HNF4A	OSTM1	PAX4	MMADHC	PPP1R17	EGF	KBTBD13	TALDO1	QRSL1	PNPO	ACAD8	UCP2	TMEM199	COX16	EIF2AK3	DGAT1	NOTCH3	FKBP14	MTMR14	ALPL	KRT8	VDR	PEX2	PPCS	TPM1	MAD2L2	MAGED2	SLC12A3	PDGFRB	SLC37A4	INPP5K	HIRA	TAFAZZIN	SLC10A1	INPPL1	APOA1	VIPAS39	ALAD	HNF1A	APP	ACTC1	STOX1	LMNB2	FAN1	CD244	GGPS1	COQ2	BCKDHB	DNMT3B	BVES	SEC24C	ERCC4	CLDN19	TPM3	PTPN22	TRIM32	APC2	TMEM43	PCCA	KIT	GATB	EPB42	CDKN1C	PSEN2	NOTCH2NLC	RBCK1	ALDOA	CLCN2	PSMB9	OTULIN	PIGY	GATC	RFXANK	SMCHD1	ANGPTL3	UBE2A	PDE4D	ATM	TRPV4	CFHR3	ATP5F1A	MAT1A	SEC61A1	LTBP4	MPDU1	PDE11A	FOS	LTC4S	PNPLA8	PLVAP	LPL	GPR35	RHCE	RPIA	PEX3	IDH2	MT-ND4	ACAT2	COX20	SLC35A2	IL36RN	MYH6	GAA	PEX26	ALG2	AP1B1	FGFR3	MT-ND5	SLC5A5	CETP	RREB1	CDKN2C	MOCS1	HNRNPDL	PCYT1A	LAMA4	KIF12	IGF1	NUBPL	EPB41	TNPO3	COMT	KLF11	BIN1	DPM1	LAMP2	KYNU	NCF1	SLC25A11	PNLIP	NT5E	COPA	BCKDHA	MED12	CDKN1A	PSMB10	DZIP1L	TRIO	ALG1	DCXR	GNPTG	DNMT3A	NDUFS6	NFKB2	CHD7	MT-TP	MT-TI	AP5Z1	CASQ1	COL9A3	CA2	COX6A2	LMOD3	SGPL1	LEP	APTX	BCL7B	GCDH	NFKBIL1	PDHB	PRSS1	CA5A	HLA-DPA1	NDUFS2	USP8	CCT5	IL6	SLC17A5	POLD1	CTNNB1	PPM1B	GFER	CYP3A4	SBDS	ATP7B	MT-TW	ABCG8	UBA1	CPA1	SVIL	GCSH	SLC22A5	MRPL3	SLC16A1	ACADM	LIPE	VPS33B	PSAP	SLC41A1	RFC2	ITGA6	GYPC	CYC1	TRDN	PLIN1	HJV	PRDX1	ISCA1	KL	CPT1A	KRT14	MCM10	CSRP3	RAG2	SLC2A3	BMP2	FLII	TFAM	FLAD1	MMAA	CFL2	MEF2A	SMAD4	MECP2	ADCY3	BTK	EPHX2	SLC51B	NBAS	TUFM	ATP6V0A2	DSP	UQCRC2	GP1BB	NR3C1	C2orf69	SNTA1	ADAMTS13	CAD	RAG1	NDUFA1	MRM2	HSD17B10	POMC	STING1	NDUFAF5	IRF4	MCEE	AFP	DMGDH	LIMS2	LIMK1	KIF23	MMEL1	MPZ	SLC51A	RXYLT1	HSD17B4	CARD10	NRAS	TNNI3	POPDC3	SLC30A2	CSF1R	MCFD2	SEC63	PGAP2	SH2B1	MT-CO3	SLC6A6	NSD1	CNOT1	ZNF699	IGFALS	RFX6	SARS2	PAX8	SC5D	SORD	PGK1	SETD2	PGM1	LAMC2	GIPC1	PRSS2	SLC6A8	MYMK	POLR3A	TOR1AIP1	IL6R	ATAD3A	TNFSF11	SLC34A2	TMEM165	GNB2	APPL1	GNAS-AS1	MKS1	ANLN	TBL2	LAMB2	RSPO1	NEFH	NSDHL	ANKRD1	MET	GK	GPHN	COX6B1	SLC9A3R1	TMEM270	GUCY2D	PET100	STAT2	DOLK	COG4	GYS2	FTH1	FXYD2	SLC52A1	PSEN1	MMP1	HMOX1	ITGA3	CC2D2A	IFT122	COX8A	CLDN16	GALT	SLC22A4	VCL	ATP6V1E1	CTRC	SLC39A8	XDH	MST1	TPO	UROC1	DBH	GATA1	ASPA	ALDH5A1	KCNH2	CYP19A1	COX10	ANKFY1	EPAS1	NDUFC2	INF2	SUGCT	DNAJC19	NARS2	MIEF2	DHX16	BCAT2
HP_HYPOCHROMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOCHROMIA	RHAG	HBB	SLC11A2	GLRX5	RHD	RHCE	STEAP3	UMPS	SLC25A38
HP_ABNORMAL_TISSUE_METABOLITE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TISSUE_METABOLITE_CONCENTRATION	PEX1	HEXB	MCOLN1	SLC22A5	ABCD1	PEX14	ARSA	PEX11B	PEX10	PEX12	PEX2	CP	PEX3	PSAP	PEX6	LPIN1	PEX19	PEX13	HEXA	MT-CO1	ACBD5	PEX16	PEX26	BCS1L	PEX5	PNPLA2	HSD17B4	GLRX5	PIGA	GLA	KHK	SLC30A10	SLC51B	CCDC115	STEAP3	HBB	MT-CO3	GM2A
HP_ABNORMAL_METABOLISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_METABOLISM	AKR1D1	CAD	FASLG	SAR1B	ELN	EFL1	ALG3	ALDH18A1	ENPP1	COG2	ABCD4	TTPA	MGAT2	ALG8	DPM2	STT3A	TAT	AGA	PRKCD	CYP7B1	HCFC1	MCEE	MPI	ERCC3	LMBRD1	DOLK	CTNS	RASGRP1	DDOST	FARSB	SIM1	SEMA4D	GRM7	CYP2R1	MMADHC	ATP6V0A2	SUCLG1	MMACHC	TCF4	COG8	DZIP1L	SSR4	MTHFD1	SUCLA2	COG4	PRDX1	MAN1B1	ALG1	SLC2A2	SRD5A3	SLC30A10	KL	ALDOB	SRP54	TMEM199	SLC52A1	DLAT	ALG13	OTUD5	MMP1	ERCC5	RFT1	CUBN	LRP5	CASP10	ACOX2	B4GALT1	BCO1	DMP1	CYP27B1	ACSF3	CBS	COL7A1	CLCN5	COG5	VDR	GALT	EDEM3	STT3B	ALG11	DPAGT1	ALG6	ATP6AP1	ZNF699	SLC34A1	DPM3	SLC35A2	MPDU1	MTR	ABCD1	HLA-DQA1	FAS	SLC37A4	SLC34A3	SLC19A1	CCND1	SLC10A1	AMN	MMAA	RNF13	GPR35	PGM1	ATP6V1A	CYP7A1	COG1	ATP6V1E1	SLC39A8	COG6	MST1	FBLN5	PTH1R	OCRL	SPTBN1	TTR	ERCC2	MMAB	AMACR	TJP2	ERCC4	MAGT1	MTRR	GALM	MMUT	GUCY2C	PMM2	HLA-DQB1	FGF23	MTTP	IARS1	UROS	FKTN	DPM1	KHK	GATA1	SLC51B	RPS10	ATP6AP2	CCDC115	RPL11	CYP3A4	FTCD	SBDS	DNAJC21	GALNT2	ALDH4A1	ALG2	CBLIF	COG7	PKHD1
HP_ABNORMAL_IMMUNE_SYSTEM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_IMMUNE_SYSTEM_MORPHOLOGY	IFNGR1	WAS	RTEL1	TNNC1	REL	RIPK1	SALL4	JAK3	MNX1	IL6ST	PIK3R1	FANCC	TERC	TNFRSF13B	PNP	TMPO	TCF3	TGFB1	ERCC3	FANCF	ERCC4	FANCD2	TAFAZZIN	USB1	BCR	TRAC	CD3D	PRDM16	IKZF3	TET2	CTC1	TRAF3	EVC2	DMP1	LBR	RPL18	DEF6	PRF1	IRF2BP2	FANCG	BLNK	TERT	IFIH1	PSTPIP1	CASP8	CORO1A	SEMA3E	CIITA	LRRC8A	IGHM	NLRP3	SMARCAL1	STAT3	CDH23	UNC93B1	SLC46A1	SGCG	RMRP	MAD2L2	FANCA	SH2B3	COG4	SLC35A1	RARA	RPL27	TONSL	JAK1	KNSTRN	ELANE	DYNC2LI1	ETV6	LYST	MSN	SRP54	RPL35A	MMACHC	RNASEH2B	LCP2	IL1RN	RPS26	TTC37	FUCA1	UROS	IL10RB	JAK2	TARS1	RPS15A	GLB1	MEFV	HYOU1	RAC2	GATA1	SCN10A	POT1	MDM2	NPC2	CREBBP	CEP57	NCF4	STS	MYD88	SP110	ZPR1	DMD	MPL	RPL15	CARD9	ENPP1	MYC	IL37	ADAR	IL7	IL21	VPS13B	SAMD9L	GBA	APC	MAN2B1	DES	RABL3	DNMT3B	LIG4	CTLA4	NLRC4	TCN2	ADAMTS3	TNFRSF1A	MYBPC3	CLPB	MS4A1	TPP2	PCCB	PIGL	RAF1	DOCK6	HELLS	OTUD5	ICOS	MYPN	ATRX	MICU1	ITCH	ANAPC1	CALR	PMM2	FANCE	ATP6AP1	SH2D1A	RNU4ATAC	TFR2	STX11	RAG1	NUP214	NLRP1	FASLG	BCL11B	CEBPE	FAS	TDP2	CTPS1	TTC7A	PTEN	DCLRE1C	IFNG	NLRP12	CSF3R	SGCD	BRCA2	RPS19	CXCR2	MMAB	DNAJC21	UNC13D	GATA2	ADA	STK4	DLL4	KIF11	SLC29A3	CXCR4	TRIP13	EP300	IL2RG	ZNFX1	IRAK4	FIP1L1	ATP6AP2	SMPD1	XRCC2	PRKCD	F13A1	GFI1	KIT	RNASEH2A	IKBKB	ADA2	MVK	BRCA1	ACP5	TAF1A	NF1	CASK	SAMD9	PLN	EFL1	FCGR2A	KRAS	TBX21	CD8A	LDB3	XRCC4	CD19	TICAM1	PSEN1	ZBTB24	OSTM1	F13B	DSG2	ALG12	RPS28	PTPRC	TXNRD2	FANCI	RPL35	ARPC1B	RAG2	EIF2AK3	LZTR1	NCF2	FHL2	RPL5	CD247	UNC119	TNFSF12	IRAK1	CTSC	PPCS	PALB2	CD27	TPM1	MDM4	SLC37A4	IVD	NUMA1	NPM1	SMAD4	ALAD	CBL	LIPA	MSH2	ACTC1	MYH7	HLA-B	TP53	PSMB4	APOE	CAPN3	CD70	SCN5A	ACTN2	SETBP1	GJB2	NOTCH1	NSUN2	TBXAS1	CDCA7	LMNB2	ERCC2	NHP2	CD79A	ZBTB16	TCIRG1	CD79B	PIGA	PTPN22	APC2	RUNX1	CARD11	NCF1	ITK	NHEJ1	G6PC3	RFXAP	CD3G	CAP2	NFKB2	FCGR2B	MAGT1	DOCK2	SBDS	PSEN2	RASGRP1	MTHFD1	SLX4	RECQL4	ASXL1	PSMB9	SCN11A	BCL10	OTULIN	CHD7	GSS	TTN	RFXANK	IL2RA	ATM	ADH5	PTPN11	FTCD	JAGN1	HTRA2	WIPF1	CD81	UBE2A	ABCC9	BRD4	SYK	SEC61A1	PARN	DKC1	NOP10	FMO3	UBE2T	NBN	MMUT	CFTR	CCBE1	FCHO1	HAND2	CBFB	KLHDC8B	TBL1XR1	IL36RN	MYH6	SLC35C1	STXBP2	SOCS1	TINF2	RPL31	FCGR3A	RFWD3	IL7R	WDR1	RPS29	EPG5	RPL11	ACVRL1	TSR2	SLC7A7	TCAP	EXTL3	TAL2	NUTM1	TBK1	GATAD1	GJB6	RBM8A	RAB27A	LAMA4	CD4	ABL1	LCK	RPS7	SKIV2L	RAD51	LPIN2	PIK3CD	BAG3	LEPR	HAX1	NEXN	G6PD	AK2	SCN9A	MYH9	MLH1	ACAT1	LAMTOR2	IGKC	MPLKIP	FIBP	VANGL1	HSCB	SPP1	CD28	RRAS2	XIAP	CASP10	USP8	GTF2E2	NABP1	STAT1	NEU1	FOXN1	FANCL	NTRK1	RNASEH2C	ITGB2	PDGFRB	FDX2	PACS2	TFRC	MLLT10	CA2	FKTN	FUT8	ANKRD26	ARHGAP31	SGPL1	SREBF1	LEP	BUB1B	ARHGAP26	TNFRSF1B	TRNT1	PSENEN	PRSS1	HLA-DPA1	IKZF1	RPS10	SH3GL1	TREX1	FGF23	SLC17A5	LPP	IGLL1	HMGCL	TLR3	FANCB	CPA1	LRBA	IKBKG	SCARB2	ENG	BCOR	BLOC1S6	HBB	LMNA	SPINK1	DDR2	RPS17	CLN3	HAVCR2	SMARCD2	FLT3	CYBB	PML	FERMT3	PRDX1	TAL1	CR2	RFX5	CDC40	NCKAP1L	TNNT2	CHEK2	PHEX	ABHD5	IGHG2	BLM	AP3B1	RAD51C	MCM10	FOXP3	STAT4	CSRP3	ABCB4	SPINK5	DLX3	CYBC1	DNMT3A	RPS24	MYSM1	SLC19A1	PCCA	MMAA	ZAP70	BTK	SRSF2	PRTN3	BUB1	HLA-DPB1	GNB1	PPIL1	PDGFRA	TBX2	DSP	IVNS1ABP	DDX41	MCM4	HLA-DRB1	AMN	EOGT	TNFAIP3	STING1	ABCD4	BRAF	NRAS	ZNF341	BTNL2	VPS33A	DOCK8	PGM3	CARD10	STAT5B	CRYAB	TTI2	CD3E	MPEG1	TNNI3	CD40LG	ERCC6L2	BACH2	GLI1	IL17RA	CEBPA	IDH1	RPS27	NSD1	ZNF699	BAX	AP3D1	NSMCE3	SARS2	LACC1	TREM2	PRKAR1A	NFKB1	SETD2	RPS20	FCGR3B	PRSS2	CYP26C1	IL10RA	IL6R	PIK3CA	PALLD	CLCN7	AGA	GTF2H5	MGAT2	EVC	SPRED1	PKHD1	ACD	CASR	BUB3	RPL26	ERBB3	GINS1	CARMIL2	ANKRD1	SAMHD1	CYBA	FANCM	RB1	MTRR	FBXL4	LMBRD1	BRIP1	FAT4	VPS45	ASAH1	STAT2	CD40	DOLK	RBM20	PNPLA2	CDKN2A	THPO	RNF113A	TYROBP	CUBN	TOM1	MECOM	CHIC2	PICALM	GPI	SDHA	TNFRSF13C	VCL	MAP2K1	RPS14	NPC1	CTRC	LAT	DNASE1	SLC27A4	SF3B1	IPO8	WRAP53	RBPJ
HP_OPPORTUNISTIC_BACTERIAL_INFECTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPPORTUNISTIC_BACTERIAL_INFECTION	IGKC	IL12RB1	MPEG1	IGHG2	IKBKG	ZNFX1
HP_INCREASED_BLOOD_PRESSURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_BLOOD_PRESSURE	TP53	TNPO3	ADD1	SMAD4	OFD1	TGFBR1	COMT	BNC2	CDKN2B	CCDC28B	SUGCT	MAT2A	MT-ND5	GTF2I	CTLA4	NCF1	SLC25A11	EXT2	PDE8B	SH2B3	TRPC6	CYP21A2	EIF4H	TCF4	MED12	CDKN1A	ACAT1	APOB	DZIP1L	YY1AP1	ABCB6	SDCCAG8	TTC26	LDLRAP1	IFT27	NPHP1	MT-TK	ARHGAP31	ZMPSTE24	SLC2A10	DNMT3A	BBS5	ALG9	DLST	IL12A	IFT74	BRCC3	USP8	CCN2	LRP6	ADA2	CEP290	AGT	MPI	CEP19	TGFBR2	DIS3L2	NOTCH1	DEF6	SHPK	TREX1	PHF21A	LMNA	MLX	RET	THBD	RNU7-1	BBS7	VHL	CYP17A1	KIF1B	TSC1	TRIM28	ABCC6	SMAD3	IL12RB1	ABCD3	GDF2	SMARCAL1	CDH23	WT1	DNAJB11	WDR35	CALR	CYP11B2	CYP11B1	LDLR	BCL7B	HLA-DPA1	NOTCH3	MT-ND6	PKD1	TGFB2	ALMS1	ACVRL1	CFI	NPHP4	PRKACA	NKX2-5	COL3A1	POR	ARMC5	STAT1	PCSK9	CAV1	PRKAR1A	KCTD1	CPOX	TMEM127	POU3F4	COL4A4	METTL27	GJA1	MYH11	JAK2	APRT	NOS3	CLCN2	FIG4	POU2AF1	DCDC2	SP110	PKHD1	GANAB	MT-TF	IDS	HSD11B2	TRIM32	HBB	REST	ELN	H19	DLL4	ENPP1	TNFRSF11B	TBX1	GBE1	SDHAF2	CD46	MT-TC	RFC2	CCR6	TET2	FARSB	PRKG1	CORIN	PLIN1	FBN1	MGP	PKD2	KRT18	FKBP6	INVS	PAM16	MYMK	LYZ	PIGM	SLC30A10	ACTN4	MYH7	FLT1	MT-CO1	IRF5	SPIB	EDA	SDHB	POU6F2	DOCK6	GLIS3	EGFR	MKKS	TSC2	NR3C1	ERCC6	ITCH	BUD23	PDE3A	TRIP13	NPHP3	SDHD	HMBS	IL12B	DNAJC30	MT-CYB	NOD2	ABCB4	SDHC	ABCG8	BICC1	WDR19	LMX1B	BRCA2	RPGRIP1L	VPS37D	ECE1	FN1	ELP1	PRTN3	SMAD2	MT-TL1	AVPR2	NR3C2	OSGEP	ERCC8	COL4A3	CFAP418	SCNN1B	MT-TE	ANGPTL6	FUZ	MEF2A	HLA-DPB1	NSMCE2	APOA1	MYLK	NFU1	B2M	CACNA1D	GUCY1A1	LEMD3	NF1	MDM2	DYRK1B	HEY2	KCNMB1	GLA	F5	GP1BB	HLA-DRB1	ASXL1	AIP	LARS2	CELA2A	ACP5	FGA	PPOX	IQCB1	EOGT	MT-TW	MLXIPL	TMEM67	GNB3	HLA-B	SCNN1G	G6PC1	IFT172	CFHR1	MT-TV	CEP164	MAX	BTNL2	LIMK1	XYLT1	CC2D2A	MMEL1	VAC14	BBS9	GCH1	INPP5E	SRSF2	IDUA	STN1	MAFB	THSD1	WRN	ARVCF	MPL	CBS	FGFR2	KRT8	C3	UFD1	PTGIS	WNK1	ACTA2	BBS1	ABCG5	MFAP5	SLC35A2	NEUROG3	VANGL1	SERPINA6	KLHL3	SLC37A4	HIRA	NOTCH2	BMPR2	TJP2	ARL6	GNAS	XPNPEP3	PPARG	LIPA	SMAD6	MKS1	CYP3A5	STOX1	INF2	MDH2	MT-CO3	SCNN1A	XYLT2	GNB2	BSCL2	TGFB3	SEC24C	TBL2	ALX4	ERCC4	MUC1	CFH	PIGA	GIMAP5	PTPN22	RUNX1	CD2AP	LOX	MT-CO2	KCNJ5	MTRR	CLDN1	BBS12	WNK4	CACNA1H	TGFBR3	NFIX	TMEM270	BBS4	ENG	SEMA4D	GATA5	DGUOK	LZTFL1	STAT2	MTTP	NDUFAF6	STX1A	GPC3	MC4R	LRIG2	CUL3	CDKN1B	BAZ1B	FMR1	HMOX1	HGD	SCN2B	SCAPER	ITGA8	LBX1	BBS10	TMEM70	CCND1	CFHR3	GPR101	JMJD1C	GTF2IRD2	PDE11A	CBL	ACTG2	CFB	FMO3	HPSE2	MEN1	TNFRSF11A	GPR35	BBIP1	SPRY2	BBS2	MST1	WDPCP	FH	FOXE3	COQ7	MMP2	TNFSF15	TTC8	COL4A5	MT-TS2	HFE	SDHA	MMP14	ADAMTSL4	MT-TQ	AGTR1	RREB1	TRAF3IP1	CDKN2C	EPAS1	CLIP2	RBPJ	TMEM237	GTF2IRD1	MT-ND1	GBA	EDA2R	KIF12
HP_2_HYDROXYGLUTARATE_ACIDURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_2_HYDROXYGLUTARATE_ACIDURIA	SLC25A1	L2HGDH	IDH1	IDH2	D2HGDH
HP_ABNORMAL_GRANULOCYTE_COUNT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GRANULOCYTE_COUNT	CIITA	SAMD9	FASLG	RAG1	EFL1	IL7R	WAS	ABCD4	TBX21	RPS7	GFI1	GATA1	RAG2	STAT3	HAX1	RFXANK	PRKCD	IL6ST	CD79A	TICAM1	TERC	IFNG	ZNF341	SMARCAL1	BTNL2	PNP	BLNK	NLRP3	TCF3	LAMTOR2	DOCK8	RPL18	ELANE	RPS17	AK2	ERCC3	PGM3	MPLKIP	RPS28	USB1	CARD10	STAT5B	TAFAZZIN	SRSF2	FIBP	HSCB	RAB27A	TRAC	FANCI	CXCR4	RPL35	CARD11	CD3D	CD40LG	EIF2AK3	BACH2	XIAP	TET2	SLC35A1	CASP10	TRAF3	USP8	PIK3CD	GTF2E2	NABP1	RPL5	CD247	NRAS	VPS33A	FANCG	RPS27	FANCE	FANCA	PDGFRB	FDX2	AP3D1	PACS2	TFRC	BCL11B	MAD2L2	MDM4	FANCC	SLC37A4	LRRC8A	CD3E	IGHM	FUT8	SBDS	PRKAR1A	CDH23	TPP2	UNC93B1	SLC46A1	PRF1	SREBF1	RPS20	RMRP	STX11	FCGR3B	SLC35C1	COG4	RPL27	TONSL	JAK1	LYST	MSN	SRP54	RPL35A	MMACHC	RPS10	CAPN3	IL1RN	RPS26	AGA	GTF2H5	STAT1	TARS1	RPS15A	MEFV	ADA	RAC2	DNAJC21	IGLL1	ERCC2	RPL26	TLR3	GATA2	GINS1	ZBTB16	LRBA	TCIRG1	CD79B	IKBKG	RUNX1	PIK3R1	RPL15	CARD9	BCOR	MTRR	ICOS	EXTL3	G6PC3	FBXL4	RFXAP	DCLRE1C	FOXP3	FAS	VPS13B	IL2RG	RARA	LMBRD1	SAMD9L	RASGRP1	VPS45	IRAK4	ACP5	LBR	RFX5	KRAS	SMARCD2	CD40	TCN2	PML	PRDX1	RECQL4	ASXL1	CLPB	OTULIN	PCCB	FANCD2	CDC40	CHD7	GSS	RPS19	RNF113A	RPL11	ATRX	JAGN1	HTRA2	CUBN	AP3B1	WIPF1	ITCH	ANAPC1	UBE2A	MECOM	SH2D1A	RNU4ATAC	TFR2	SPINK5	NLRP1	SEC61A1	MMUT	NUMA1	TDP2	RPS24	TERT	CBL	FMO3	PCCA	ETV6	MMAA	CSF3R	ADA2	SLC27A4	CXCR2	MMAB	SF3B1	TBL1XR1	IL36RN	UNC13D	STXBP2	STK4	IPO8	IRF2BP2	RPL31	BTK	ZNFX1	ZAP70	PPIL1	NPM1	MYSM1	FIP1L1	WDR1	RPS29	PDGFRA	TSR2	LIG4	TBK1	HLA-DRB1	AMN	RBM8A	MVK	KIT
HP_REDUCED_FORCED_VITAL_CAPACITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_FORCED_VITAL_CAPACITY	TGFB1	RTEL1	TPM2	JAG2	BAG3	GGPS1	FCGR2A	ACTA1	SELENON	CSF2RA	PARN	SFTPC	CRPPA	SLC25A21	FKRP	NEK10	COL6A2	STK36	UNC45B	LRP12	MCIDAS	MYH7	RYR1	CFTR	TPM3	SYT2
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	TGFB1	STK36	RTEL1	CSF2RA	ITCH	NEK10	PARN	CFTR	FCGR2A
HP_ABNORMAL_GROWTH_HORMONE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GROWTH_HORMONE_LEVEL	EFL1	PTCH1	POMC	GH1	SHH	CDKN2B	NDN	GPR101	KANSL1	CDKN1B	SNRPN	AIP	SIX3	TGIF1	CTSK	STAG2	DCAF17	YY1	GHSR	SOX3	PRKAR1A	CDKN1A	BAP1	PROP1	PREPL	SMARCE1	NF2	ZNF148	FANCI	CDON	FOXH1	IGF2	DLL1	RRAS2	NFKB2	FGF8	BRCC3	FGFR1	ZIC2	SLC29A3	TRAF7	CHD7	FOXA2	GLI2	SMO	EIF2S3	ARNT2	MARS2	HESX1	AKT1	TDGF1	ADNP	SEMA3E	TBCK	GMNN	LHX4	LHX3	SRD5A3	GAS1	WDR4	GNAS	STIL	TP63	TBCE	HPGD	SMC1A	SMARCB1	KIAA0753	ALMS1	ADAT3	MKRN3	OTX2	PITX2	FLNB	SUFU	NODAL	MAGEL2	OCA2	LEPR	PCSK1	GNB2	SBDS	POU1F1	DISP1	DNAJC21	POU3F4	TERT	SLCO2A1	KATNIP	NPAP1	PDGFB	TMCO1	PWAR1	NKX2-1	PIK3CA	RFWD3	GHRHR	MEN1	GLI3	ESCO2	CDKN1C	DYRK1A	VPS13B	POLE	PNPLA6	IARS2	GRM7	KMT2A	KCNJ11	CDH23	RNPC3	SRP54	PDE4D	PMM2	SIN3A	TMEM67	MPDU1	MADD	HERC2	FANCF	BTK	PWRN1	SNORD115-1	POLR3A	STAT5B	THOC2	TBX2	RBM28	STX16	CDKN2C	SLC7A7	CEP57	SNORD116-1	AFF4	WASHC5	ACP5	POLR3GL
HP_ACIDEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACIDEMIA	MCEE	SUCLA2	GCDH	LMBRD1	ACSF3	L2HGDH	PRDX1	IDH2	ETFA	MMAB	ABCD4	MMADHC	SUCLG1	MMACHC	SUGCT	ETFDH	DNAJC19	PAH	MMUT	MMAA	HCFC1	ETFB
HP_PERIVENTRICULAR_NODULAR_HETEROTOPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIVENTRICULAR_NODULAR_HETEROTOPIA	ZSWIM6	ARF1	NEDD4L	ERMARD	DCHS1	VPS35L	ARFGEF2	TBC1D24	ZNF292	FAT4	MAP1B	INTS8	CPLX1	ZMIZ1
HP_SUBCORTICAL_HETEROTOPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBCORTICAL_HETEROTOPIA	LAMB1	FAT4	TUBG1	EML1	CEP85L	TUBGCP2	CRPPA	KIF2A	DCHS1	PAFAH1B1	COL4A2
HP_SUBCORTICAL_BAND_HETEROTOPIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBCORTICAL_BAND_HETEROTOPIA	LAMB1	FAT4	TUBG1	EML1	CEP85L	TUBGCP2	KIF2A	DCHS1	PAFAH1B1
HP_ABNORMAL_C_REACTIVE_PROTEIN_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_C_REACTIVE_PROTEIN_LEVEL	LACC1	NLRP1	PTPN22	HLA-DRB1	MVK	STING1	ITK	NLRP3	IL37	SPINK1	UNC93B1	MEFV	NLRP12	PRKCD	SLC22A4	CFTR	TICAM1	CTRC	PRTN3	CTLA4	NFKBIL1	PRSS1	COPA	PRSS2	HLA-DPA1	IL36RN	PSMB8	NLRC4	IL6R	IL1RN	HLA-DPB1	TNFRSF1A	IL6	MIF	ZNFX1	CARD10	CD244	OTULIN	IL10	TRAF3	HMOX1	CASR	CIITA	DEF6	TBK1	ADA2	TLR3	UBA1	CPA1	PSTPIP1	C2orf69	SYK
HP_PULMONARY_CYST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_CYST	DSP	PTEN	MUC5B	ABCA3	SFTPA1	TERT	FLCN	TTC7A	ATP11A	TERC	AKT1	YARS1	SREBF1	PARN	RTEL1	FAM13A	DPP9	SFTPC	STN1	SFTPA2
HP_LONG_THUMB	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_THUMB	NPR3	KCNN3	TBC1D24	PTH1R	ADH5
HP_KNUCKLE_PAD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KNUCKLE_PAD	KRT16	GJB2	KRT9	KRT1	SMARCAD1	LORICRIN
HP_ABNORMAL_PULSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PULSE	XYLT1	ABCC6	RASA1	ENPP1	XYLT2
HP_COILED_SPERM_FLAGELLA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COILED_SPERM_FLAGELLA	DNAH8	ARMC2	CFAP44	TTC29	CFAP47	CFAP251	CFAP69	CFAP43	DNAH10	CATIP	CFAP65	SPEF2	CFAP58	FSIP2	DNAH2	DNAH17	CFAP91	DNAH1	QRICH2
HP_TAPERED_SPERM_HEAD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TAPERED_SPERM_HEAD	CATIP	ARMC2	CFAP70	TTC29	DNAH17	CFAP69	ACTL9
HP_ABNORMAL_RENAL_INSTERSTITIAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_INSTERSTITIAL_MORPHOLOGY	IFT122	ALMS1	MLXIPL	GTF2IRD2	MRPL3	SLC12A3	SLC37A4	TMEM67	PUS3	NPHP3	BSND	VPS37D	DPH1	ELN	RPGRIP1L	BCL7B	TMEM270	GTF2I	GBE1	FOXC2	PKHD1	NCF1	RFC2	BTNL2	ACP5	LIMK1	CEP83	EIF4H	MMUT	CLCN5	FAN1	FKBP6	INVS	NDUFAF6	STX1A	NPHP1	SLC30A9	COQ2	PTPRO	BAZ1B	ANTXR1	METTL27	SLC7A7	TBL2	CLIP2	WDR19	CPT2	TRAF3IP1	BCS1L	BUD23	MUC1	NPHP4	REN	CLCNKB	GTF2IRD1	HLA-DRB1	PDSS2	CTNS	DNAJC30	FOXP3	DCDC2
HP_HAND_APRAXIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAND_APRAXIA	PLP1	GABBR2	MECP2	CDKL5	SMC1A	NTNG1
HP_SKEWFOOT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKEWFOOT	ATP1A2	SLC26A2	CACNA1A	SLC1A3	NDRG1	ATP1A3
HP_ELEVATED_LACTATE_PYRUVATE_RATIO	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_LACTATE_PYRUVATE_RATIO	GFM1	MRPL3	NDUFB10	NDUFS4	SUCLG1
HP_STATUS_EPILEPTICUS_WITH_PROMINENT_MOTOR_SYMPTOMS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_STATUS_EPILEPTICUS_WITH_PROMINENT_MOTOR_SYMPTOMS	SCN1A	SCN1B	PEX5	MRM2	GABRG2	SCN2A	SCN9A	PCDH19	POLG	ASAH1	GABRA1	VAMP2	KCTD7	TWNK	PDE2A
HP_FOCAL_MOTOR_STATUS_EPILEPTICUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_MOTOR_STATUS_EPILEPTICUS	TWNK	SCN1A	SCN1B	MRM2	GABRG2	SCN2A	SCN9A	PDE2A	PCDH19	POLG	GABRA1
HP_NON_CONVULSIVE_STATUS_EPILEPTICUS_WITHOUT_COMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NON_CONVULSIVE_STATUS_EPILEPTICUS_WITHOUT_COMA	ADGRV1	GABRG2	SCN1B	CDKN2C	HCN1	ODC1	STX1B	SCN1A	CDKN2B	SCN2A	CDKN1B	GRIN2A	CDKN1A	MEN1	SCN9A	GABRD
HP_GENERALIZED_ONSET_MOTOR_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_ONSET_MOTOR_SEIZURE	UBE3A	MT-TK	CACNA1I	PURA	CDKL5	NEUROD2	PDX1	CACNA1A	TRIT1	STAT3	GBA	DPM1	DPM2	KCNQ3	KCNQ2	MT-ND3	CDH15	INS	KCTD7	TBCD	SCN2A	KIF1A	PCDH19	CHD2	KCNT2	GABRA1	SDHA	CLCN2	PSAP	TBC1D24	AP2M1	MTHFR	NHLRC1	IER3IP1	SCN1A	SCN9A	GCK	MT-ND5	CILK1	ERBB4	MYT1L	KNSTRN	RPL10	CACNG2	MT-TP	NEXMIF	COG2	MT-TI	MT-TL1	ASAH1	DOCK7	GABRB3	PTRH2	DPAGT1	NSD1	GNAO1	PIGT	ADGRV1	MED13	PRICKLE1	CAMK2B	MED12L	GRIN1	SETD2	TSEN34	MBD5	PIGQ	ZMYND11	CIC	NTNG1	EPM2A	TSEN15	GABRG2	TRPM3	GALC	SYNGAP1	SCN1B	DLL1	ASH1L	AFG3L2	CAMK2A	TRAPPC9	NBEA	SLC2A1	SEPSECS	CUX1	KIRREL3	KARS1	CPLX1	PRDM8	TCF4	ARX	CHAMP1	MBOAT7	HACE1	DEAF1	NDE1	KCNA1	ACSF3	SMC1A	GABRD	DNM1L	SMS	EPB41L1	SLC25A22	GABRA5	GLB1	PCYT2	NARS1	TSEN54	GRIN2A	CUX2	VPS53	TANGO2	MT-TW	MT-ND1	CACNB4	MT-TF	APC2	TRIM8	MT-RNR1	GAD1	ADGRG1	PIK3CD	ALDH7A1	MT-TH	TMX2	PRICKLE2	DYRK1A	OPHN1	SIK1	PTEN	LNPK	SLC6A1	HCN2	TSEN2	PRRT2	EXOC8	SDHB	NGLY1	HIVEP2	ALDH5A1	ARHGEF9	GRN	PHGDH	BUB1B	PPP3CA	CARS2	GAMT	CLN8	PAFAH1B1	SLC12A5	SLC25A15	STXBP1	GRIN2B	SET	SPATA5	EEF1A2	JRK	COQ5	MFSD8	PLAGL1	HCN1	DYNC1H1	PCDH12	MT-TV	MT-ATP6	SLC9A6	GRM7	BRAT1	EFHC1	KDM5B	PNKP	ABCC8	DMXL2	COX8A	SETD1B	BTD	CASK	NDUFA1	MT-ND2	KCNQ5	MT-TS2	MT-ND4	SAMD12	CLTC	DOCK8	RAB11A	MT-ND6	CSNK2B	HYMAI	PIGA	STX1B	NUS1	SCN8A	SATB1	DNM1	BRSK2	SDHAF1	ELOVL4	TAOK1	MT-TQ	MAPK10	PIGP	SDHD	GABBR2	DHDDS	KCNJ11	MECP2	NEU1
HP_FOCAL_NON_MOTOR_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOCAL_NON_MOTOR_SEIZURE	RELN	GRIN1	SCN8A	SETD1B	PACS1	CNTN2	CACNA1I	CAMK2B	NHLRC1	MED12L	PRICKLE2	KCNQ5	MBD5	GAL	ZMYND11	KCNQ2	CIC	EPM2A	SRPX2	CDH15	LGI1	TRPM3	KIF1A	DLL1	ASH1L	PRRT2	NBEA	CUX1	KIRREL3	NPRL2	NGLY1	CLTC	CAMK2A	HIVEP2	DOCK8	RAB11A	DEPDC5	KCNQ3	TCF4	PHGDH	CHAMP1	CACNA1A	PPP3CA	CSNK2B	DEAF1	ADGRG1	EPB41L1	GRIN2B	BRSK2	SET	EEF1A2	ERBB4	SYNGAP1	NPRL3	MYT1L	TAOK1	SCN1A	CACNG2	MICAL1	KCNA1	DYNC1H1	PI4KA	TREX1	PDE2A	ATP1A2	GLI3	KDM5B
HP_TONIC_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TONIC_SEIZURE	GRIN1	GABRG2	TRIM8	CHD2	CACNA1I	PURA	NEUROD2	CACNA1A	CEP85L	PIK3CA	DPM1	PRICKLE2	KCNQ3	SCN2A	KCNQ2	CDH15	TBCD	SCN1A	KIF1A	HCN2	SQOR	PRRT2	PCDH19	NGLY1	GABRA1	CAMK2A	HIVEP2	NSF	ARHGEF9	CLCN3	PPP3CA	GRIK2	SCN9A	PAFAH1B1	STXBP1	CDKL5	GRIN2B	SET	EEF1A2	ERBB4	MYT1L	RPL10	CACNG2	PSAP	PHACTR1	NEXMIF	CUL3	COG2	SIK1	DYNC1H1	DOCK7	GABRB3	EN1	DMXL2	GRM7	GNAO1	PIGT	ARX	KDM5B	PNKP	SETD1B	AKT3	PTPN23	CAMK2B	MED12L	CASK	SCN1B	KCNQ5	MBD5	PIGQ	GRIA2	ZMYND11	CIC	TRPM3	DLL1	ASH1L	MECP2	NBEA	CUX2	CUX1	KIRREL3	KARS1	CLTC	DOCK8	RAB11A	TCF4	CHAMP1	CSNK2B	DEAF1	KCNA1	SCN8A	SATB1	EPB41L1	SLC25A22	GABRA5	DNM1	BRSK2	GRIN2A	SYNGAP1	VPS53	TAOK1	CLCN4	MAPK10	PIGP	TANGO2	ADGRV1
HP_MYOCLONIC_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOCLONIC_SEIZURE	KCNMA1	MT-TK	CACNA1I	CDKL5	PDX1	CACNA1A	TRIT1	CEP85L	STAT3	GBA	DPM1	DPM2	MT-ND3	CDH15	INS	KCTD7	KIF1A	PCDH19	CHD2	KCNT2	GABRA1	SDHA	PSAP	TBC1D24	TMEM231	AP2M1	EXOSC5	MTHFR	NHLRC1	IER3IP1	SCN1A	GRIK2	SCN9A	GCK	CTSD	MT-ND5	HCN4	ERBB4	GPAA1	MYT1L	KNSTRN	CACNG2	MT-TP	NEXMIF	MT-TI	MT-TL1	ASAH1	GABRB3	PTRH2	EXOC7	DPAGT1	NSD1	PIGT	ADGRV1	AP3D1	PRICKLE1	CAMK2B	MED12L	GRIN1	SETD2	TSEN34	MBD5	ZMYND11	CIC	NTNG1	EPM2A	TSEN15	GABRG2	CSNK2B	TRPM3	GALC	SYNGAP1	SCN1B	CLCN3	DLL1	SCN2A	ASH1L	NCDN	AFG3L2	CAMK2A	TRAPPC9	NBEA	SLC2A1	SEPSECS	CUX1	KIRREL3	CPLX1	PRDM8	TCF4	CHAMP1	MBOAT7	HACE1	DEAF1	NDE1	SMC1A	DNM1L	SMS	EPB41L1	SLC25A22	GABRA5	GLB1	NARS1	TSEN54	CUX2	GABRD	VPS53	DALRD3	KCNJ11	TANGO2	MT-TW	ALDH7A1	CILK1	MT-ND1	MT-TF	APC2	TGFB1	HEXB	MT-RNR1	GAD1	ADGRG1	PIK3CD	MT-TH	PRICKLE2	DYRK1A	OPHN1	SIK1	PTEN	LNPK	SLC6A1	TSEN2	MICOS13	EXOC8	SDHB	NGLY1	HIVEP2	ALDH5A1	CLN5	GRN	PHGDH	BUB1B	PPP3CA	CARS2	GAMT	CLN8	PAFAH1B1	SLC12A5	SLC25A15	STXBP1	CDC40	GRIN2B	SET	SPATA5	EEF1A2	MFSD8	PLAGL1	HCN1	DYNC1H1	PCDH12	MT-TV	DMXL2	MT-ATP6	BRAT1	EFHC1	ARX	KDM5B	ABCC8	SPATA5L1	COX8A	SETD1B	PTPN23	PLPBP	BTD	SLC13A5	RTN4IP1	NDUFA1	MT-ND2	GRIN2A	KCNQ5	CACNA1D	MT-TS2	MT-ND4	SAMD12	CLTC	DOCK8	RAB11A	MT-ND6	HYMAI	PIGA	CLCN2	STX1B	NUS1	SATB1	PPIL1	DNM1	BRSK2	SDHAF1	PIGQ	CAMTA1	ELOVL4	TAOK1	PPP1R21	MT-TQ	MAPK10	SDHD	GABBR2	DHDDS	EXTL3	MECP2	PYCR2	NEU1
HP_INFECTION_RELATED_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFECTION_RELATED_SEIZURE	MAF	SLC44A1	SCN8A	GABRG2	TRIM8	ACADM	SCN1A	SLC2A1	HCN1	AUH	NEUROD2	CEP85L	KCNQ3	KCNJ6	DYRK1A	EFHC1	FAR1	DPYD	KCNQ2	KCTD7	HERC2	SCN2A	GPT2	SLC6A1	HCN2	LMNB1	TSEN2	RNU12	PRRT2	PCDH19	CHD2	NPRL2	GABRA1	CLCN2	TBC1D24	AP2M1	CPA6	COG4	GABRD	RPL10	SCN9A	SLC12A5	MT-TK	CDKL5	RSRC1	CILK1	TBCD	JRK	SIK1	AP4S1	PDE2A	ATP1A2	GLS	GRM7	GNAO1	ADORA2A	ERLIN2	PNKP	ADGRV1	DMXL2	SCN1B	WAC	GALC	EMC10	CASK	AASS	TSEN34	PIGQ	CNKSR2	GRIA2	CACNA1H	SLC35C1	TSEN15	SYNGAP1	PTH1R	SEPSECS	SPTBN1	MBD5	GRIN2A	VPS11	ARX	WDR26	CPLX1	GABRB3	MBOAT7	CACNA1A	KCNA1	STX1B	SETD5	POGZ	DEPDC5	HS6ST2	APP	TSEN54	NPRL3	PIGP	PEPD	ALDH4A1	SLC25A22	SRPX2	MVK	NFIX	KMT5B	NEXMIF	CACNB4
HP_ABNORMAL_URINE_PH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_PH	HOGA1	MT-TL1	HPD	ETHE1	AGXT	CPOX	ACADM	MVK	GATM	PCCA	ABCD4	DHTKD1	SUGCT	HMBS	ETFDH	ACAD9	HCFC1	MT-ND3	MCEE	PET117	LMBRD1	L2HGDH	SLC25A4	POLG	MMADHC	HGD	SUCLG1	MMACHC	LDHD	SCO1	SLC52A2	TCN2	MCCC2	GRHPR	SUCLA2	CPT2	UROC1	PRDX1	ACAD8	GCDH	NDUFS4	TAFAZZIN	SLC26A1	MCCC1	COX16	SLC25A20	SLC52A1	MT-TK	MPC1	DNAJC19	NDUFB10	ACADS	ETFB	ACSF3	HADH	PCCB	NFS1	IDH1	RET	HMGCL	MT-TV	PEX1	MT-ATP6	NADK2	MRPS2	TAT	KIF1B	BTD	SLC25A19	HLCS	MT-ND2	FLAD1	MMAA	CD320	ALAD	SDHD	ACADVL	SLC25A1	OXCT1	IDH2	SLC25A21	MT-ND4	MMAB	PDP1	MMUT	MT-ND6	D2HGDH	UROS	GATA1	ALDH5A1	MT-ND5	ETFA	MT-TW	MLYCD	PPOX	MT-ND1
HP_ABNORMAL_BRONCHOALVEOLAR_LAVAGE_FLUID_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BRONCHOALVEOLAR_LAVAGE_FLUID_MORPHOLOGY	SLC7A7	SFTPC	CSF2RB	MARS1	SFTPB	COPA	HLA-DRB1	MUC5B	NKX2-1	CSF2RA	ABCA3	SFTPA2	TERT	BTNL2
HP_ABNORMAL_CELLULAR_COMPOSITION_OF_BRONCHOALVEOLAR_FLUID	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CELLULAR_COMPOSITION_OF_BRONCHOALVEOLAR_FLUID	MUC5B	NKX2-1	HLA-DRB1	SFTPC	SFTPA2	COPA	TERT	BTNL2
HP_ELEVATED_BRONCHOALVEOLAR_LAVAGE_FLUID_NEUTROPHIL_PROPORTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_BRONCHOALVEOLAR_LAVAGE_FLUID_NEUTROPHIL_PROPORTION	MUC5B	NKX2-1	SFTPC	SFTPA2	TERT
HP_PERSISTENT_HEAD_LAG	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERSISTENT_HEAD_LAG	UGP2	COX10	EN1	MECP2	MICOS13	SUCLG1	SPTBN1	FARSB	NONO
HP_DELAYED_ABILITY_TO_ROLL_OVER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DELAYED_ABILITY_TO_ROLL_OVER	SON	PGAP1	YIF1B	CELF2	MECP2	MRPS25	VPS35L	NDUFA8
HP_INCREASED_FECAL_PORPHYRIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_FECAL_PORPHYRIN	UROS	UROD	CPOX	ALAD	GATA1
HP_MALE_REPRODUCTIVE_SYSTEM_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALE_REPRODUCTIVE_SYSTEM_NEOPLASM	STAT6	PRKAR1A	CDC73	RAD51	ZFHX3	PDE11A	BRCA2	EWSR1	DMRT3	VAMP7	RNF43	RAD51C	ZFPM2	NR0B1	KANSL1	TXNRD2	AR	KEAP1	NNT	GATA4	CHEK2	SOX9	TP53	MAP3K1	PDE8B	MXI1	RAD51D	CYP11B1	STAR	NBN	CDH1	PTEN	NR5A1	APC	RNASEL	CDKN2A	MRE11	BRIP1	COL14A1	PRKACA	DICER1	STK11	DHX37	RAD50	IGF2	FLI1	BRCA1	WT1	MC2R	NAB2	EPHB2	MDM2	CDKN1B	WWOX	AAGAB	PALB2	MRAP	SRY	BMPR1A	STS	AKT1	KLF6	MAD1L1	GREM1	BARD1
HP_FEMALE_REPRODUCTIVE_SYSTEM_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEMALE_REPRODUCTIVE_SYSTEM_NEOPLASM	STAT6	BUB1B	NRAS	SEC23B	MLH1	CDC73	PIK3CA	SDHD	STK11	SRY	CTNNB1	TLR2	DOCK8	MSH2	PTPN12	RPS20	APC	POLE	POLD1	FH	SDHC	AXIN2	BAX	PTEN	SLC6A17	PMS2	COL4A6	NTHL1	BMPR1A	BRAF	RAD54B	SEMA4A	BUB1	CDH1	MSH3	MSH6	CHEK2	PTPRJ	CXCR4	AKT1	TRIP13	MLH3	TP53	DLC1	MCC	FLI1	SRC	PLA2G2A	COL4A5	DCC	SDHB	NAB2	BUB3	CDKN1B	FLCN	KLLN	FGFR3	CEP57	EP300	CCND1	USF3	PDGFRL	AURKA	GREM1
HP_DECREASED_NASAL_NITRIC_OXIDE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_NASAL_NITRIC_OXIDE	MCIDAS	CFAP298	DRC1	LRRC56	DNAJB13	CFAP52	CCNO
HP_MOTOR_REGRESSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOTOR_REGRESSION	POLR3K	HSD17B4	SELENOI	CLN8	ADH5	POLR3GL
HP_PSYCHOGENIC_NON_EPILEPTIC_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSYCHOGENIC_NON_EPILEPTIC_SEIZURE	NF1	TP53	NTNG2	SRCAP	DRD2	RET	PRKN	ZMIZ1	TRMT1	SATB1	PARK7	KDM4B	SDHAF2	SLC12A2	PSMD12	SLC25A11	MED13	DOCK3	PINK1	VHL	VPS13C	MED27	CLCN3	HTT	UBR7	KMT2E	CREBBP	GRIA4	HPDL	DNMT3A	DLST	USP8	SDHC	ACTL6B	TNRC6B	CDKL5	MYT1L	EMC10	LMBRD2	DPYSL5	SDHB	TCF7L2	TANC2	PUS7	PTPN23	TRIP12	SVBP	DDX6	SYNCRIP	BCAS3	CDH23	HTRA2	MADD	MAPK8IP3	KCNMA1	EP300	NTNG1	SPART	PALS1	AGO2	MAX	KCTD17	FH	FBXW11	WDFY3	SYNJ1	RNF2	WASF1	ACTL6A	BPTF	MDH2	SNCA	TCF20	DNAJC6	SPTBN1	PODXL	SMC1A	CNOT3	KIF1B	SDHA	UCHL1	HUWE1	BCORL1	RLIM	TMEM127	EPAS1	GABBR2	KAT8	SETD1A	TOR1A	TRAPPC4	SGCE	SDHD	CCDC32	CIZ1	LRRK2	MECP2	JARID2	HS2ST1	ANKRD17
HP_DECREASED_SERUM_TERMINAL_COMPLEMENT_COMPONENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SERUM_TERMINAL_COMPLEMENT_COMPONENT	C8A	C9	C8B	C6	C7	C5
HP_ABNORMAL_FACTOR_IX_ACTIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FACTOR_IX_ACTIVITY	F9	PMM2	VKORC1	MGAT2	SLC37A4	GGCX
HP_ABNORMAL_MACROSCOPIC_URINE_APPEARANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MACROSCOPIC_URINE_APPEARANCE	AKR1D1	NPHS1	NPHS2	GAPVD1	PYGM	COQ8B	CPOX	UROD	TBC1D8B	ABCC2	DMD	CD2AP	BLVRA	HMBS	ALAD	APOL1	NUP133	LPIN1	EMP2	PTPRO	MT-CO1	MAGI2	NUP37	NUP205	NUP93	NUP85	ACTN4	TTC26	TSC2	UROS	WT1	GATA1	TSC1	SPP1	PAX2	PLCE1	ARHGAP24	ATP11C	CRB2	NUP107	ARHGDIA	TRPC6	ANLN	ANKFY1	MYO1E	IRAK1	COL4A3	INF2	CPT2	MT-CO3	STAT4	CLTRN	SLC6A19	NUP160
HP_APLASIA_HYPOPLASIA_OF_THE_THYROID_GLAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_THYROID_GLAND	KAT6B	NKX2-1	PROP1	IRS4	PAX8	TSHR	LHX4	LHX3	NKX2-5	GNB2	TRHR	HESX1	DUOX2	POLR1D	FOXE1	TSHB	POU1F1	SLC26A4	POLR1B	NSDHL	POLR1C	ADAMTSL1	TCOF1	GLI3
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	AASS	LMBRD1	PRDX1	SLC7A9	MTR	SLC3A1	PREPL	MTHFR	PPM1B	CBS	ABCD4	MMADHC	CAMKMT	MMACHC	MTRR	HCFC1
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	AASS	GUCY2D	SLC7A9	SLC3A1	SLC1A1	SLC7A7
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	GSS	MOCS2	OPLAH	MOCS1	SLC25A13	GPHN	ASPA
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	ALDH4A1	PRODH	AASS	PRDX1	SLC7A9	SLC6A20	CTH	SLC36A2	SLC6A19	TNFRSF11B	DHTKD1	ALDH5A1	PLOD2	LMBRD1	SLC6A18	SLC7A7	MMACHC	SLC3A1	TNFRSF11A	DMGDH
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	ALDH4A1	SLC6A19	PRODH	SLC6A18	SLC6A20	SLC36A2	GLYCTK	PCCB	AMT	MCCC2	GLDC	IVD	PCCA	GCSH	ACADM
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	PRODH	AASS	ARG1	MTR	PREPL	SLC6A20	SLC36A2	SLC6A19	ABCD4	SLC3A1	IVD	PCCA	HCFC1	LMBRD1	SLC6A18	CBS	MMADHC	CAMKMT	GUCY2D	MMACHC	MTRR	ACADM	MTHFR	ALDH4A1	PRDX1	SLC7A9	SLC1A1	PPM1B	PCCB	AMT	HAL	SLC7A7	OPLAH	GLYCTK	MCCC2	GLDC	SARDH	CLTRN	GCSH
HP_ABNORMAL_CIRCULATING_PROTEINOGENIC_AMINO_ACID_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_PROTEINOGENIC_AMINO_ACID_CONCENTRATION	PRODH	HPD	SLC25A13	ASL	ABCD4	MTRR	GCH1	FAH	PCBD1	QDPR	PET117	LMBRD1	KYNU	NAGS	BCKDHA	MMADHC	GUCY2D	MMACHC	PTS	TALDO1	PNPO	MCCC2	MTHFR	PHGDH	PRDX1	COX5A	SUCLG1	SLC30A10	PCCB	IRF6	MCCC1	AHCY	COX16	NDUFB10	HAL	FTCD	MICU1	CPS1	NADK2	NFS1	ADK	PAH	GLYCTK	AASS	ARG1	MAT1A	COX8A	MTR	TAT	PSAT1	GLRX5	DBT	SLC19A1	DLD	PCCA	MMAA	GLUL	CBS	MMAB	UROC1	PSPH	PDP1	MMUT	ALDH4A1	BCKDK	TTC37	AMT	BCKDHB	TNFRSF11B	GNMT	OTC	COX10	MDH1	ASS1	SLC7A7	NDUFC2	GLDC	SARDH	SPR	GCSH	BCAT2
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	ATP5F1A	MT-TL1	COX8A	SLC25A4	PDHX	SLC25A13	MRPL3	POLG	DBT	COQ9	PNPLA8	CTH	PDHA1	MT-ND2	NDUFA13	MIPEP	FBXL4	MT-ND3	COX6B1	LMBRD1	LIPT2	FBP1	MT-ND4	CA5A	MICOS13	BCKDHA	KARS1	PC	MMACHC	PDP1	SCO1	MT-ND6	LIG3	NAGS	MTHFR	PRDX1	COX5A	NDUFS4	ASPA	BCKDHB	COX16	MT-TK	NDUFB10	MT-ND5	COX10	TYMP	RRM2B	TRMT10C	SLC7A7	UQCRC2	NDUFC2	TMEM126B	MT-TW	ALDH4A1	MTO1	NFS1	TMEM70	MT-TV	MT-ATP6	MT-ND1
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	AASS	MT-TL1	SLC25A13	MRM2	SLC25A15	OAT	PCK1	OTC	ALDH5A1	MT-ND2	MT-TK	HFE	MT-ND5	MT-ND3	SLC7A7	APP	MT-ND4	PLAU	MT-TW	MPO	NOS3	CPS1	MT-TV	MT-ATP6	MT-ND6	DMGDH	MT-ND1
HP_ABNORMAL_RIGHT_VENTRICULAR_FUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RIGHT_VENTRICULAR_FUNCTION	TBX20	TTN	SDHD	GATA4	SELENON	SLC34A2	WNT5A	EIF2AK4	ATRX	BMPR2	ROR2	CITED2	MYH6	ACTC1	DVL1	TLL1	GATA6	DAXX	NKX2-5	MYH7
HP_ABNORMAL_SHOULDER_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SHOULDER_PHYSIOLOGY	PKDCC	SGCA	GNE	TRAPPC2	RECQL4	MYH7	ZMPSTE24	HGD	LMNA	COMP	FBN1	ZC4H2	TPM2	GNPTAB
HP_ABNORMAL_RENAL_ECHOGENICITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_ECHOGENICITY	KIAA0586	TTC26	TCTN2	DAAM2	MYH11	KIF14	PBX1	DZIP1L	SARS2	COG6	INVS	BICC1	TMEM67	CSPP1	REN	SLC30A9	MYOCD	CILK1	IFT43	DCDC2	RNU7-1	XPNPEP3	CC2D2A
HP_ABNORMAL_CIRCULATING_CERULOPLASMIN_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_CERULOPLASMIN_CONCENTRATION	SLC33A1	TMEM199	CP	CCDC115	COG2	AP1B1	AP1S1
HP_ABNORMAL_PHARYNX_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PHARYNX_MORPHOLOGY	CIITA	STK11	WAS	ICOS	SHH	XPNPEP2	GFI1	ARID2	GIPC1	CD19	JAK3	LEPR	RFXANK	HLA-B	DNAAF5	ASAH1	ODAD2	PNP	ANKH	TNFRSF13B	DCLRE1C	TAP1	COL5A2	GNPTAB	PSMB8	ELANE	MST1R	IGKC	ALG12	AICDA	USB1	HYDIN	TNFRSF13C	CXCR4	NFKB2	RSPRY1	SCNN1G	SMARCA4	XIAP	PIK3CD	DNAI1	TAPBP	UNC119	TNFSF12	TP53	IL17RA	FOXN1	SALL4	IRF2BP2	HPS6	FOXJ1	F12	DNAAF1	SH3KBP1	SOX4	MDM4	NAGLU	DOCK8	CFI	SERPING1	SMARCB1	NFKB1	SMARCC2	EP300	LEP	STAT3	RSPH1	ARID1A	IL7R	SPAG1	SGSH	SRP54	ALMS1	NOTCH2NLC	GJA1	PRPS1	DNAAF6	GUSB	IL6R	CR2	DNAH5	IGHM	SOX11	P4HA2	HGSNAT	MGAT2	STAT1	SMARCE1	ARID1B	PRKAR1A	HYOU1	GLB1	GAS2L2	ZMYND10	KATNIP	CFAP298	CREBBP	RPGR	CD79A	DYM	LRBA	TCIRG1	CARMIL2	NCF4	RAG1	PTPN22	COL5A1	IDS	ADNP	GNS	PLG	GALNS	DNAAF4	RAG2	RFXAP	STXBP2	GAS8	ACP5	MAGT1	RFX5	DPF2	CTLA4	OFD1	CD79B	TNFRSF1A	MGP	COG4	KDM5C	DNAI2	SCNN1A	UNG	MS4A1	SMARCD1	EGFR	FOXP1	RAC2	IGHG2	USP9X	NEK10	RNF168	CD81	ATM	PLP1	GLI3	SH2D1A	RSPH4A	IL2RG	HLA-DRB1	KRT5	DNAAF2	BLM	NBN	PRKCD	TCOF1	DNAAF11	MATR3	IL21R	MED12	FGFR1	FCHO1	STX3	NME8	ODAD1	SMARCA2	STK36	TP63	MID1	TBC1D24	SLC29A3	FCGR3A	SCNN1B	ARSB	ZAP70	SETBP1	MYSM1	ADA	HLA-DPB1	TAP2	IVNS1ABP	IKBKB	ADA2	CCDC65	MCIDAS	CD4	DNAJB13	FGFR2
HP_DECREASED_CD4_CD8_RATIO	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CD4_CD8_RATIO	AP3B1	IL2RA	UNC119	CTPS1	CASP8	DEF6	MAGT1
HP_NON_MOTOR_SEIZURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NON_MOTOR_SEIZURE	UBE3A	KCNMA1	CACNA1I	SLC2A1	SZT2	CLCN4	NEUROD2	TRIM8	CACNA1A	CEP85L	DPM1	KCNQ3	GABRB3	KIF4A	FAR1	KCNQ2	SRPX2	CDH15	LGI1	SCN2A	KIF1A	GABRG2	ZNF41	PRRT2	PCDH19	CHD2	GDI1	KCNT2	GABRA1	FTSJ1	CLCN2	DEPDC5	AP2M1	MTHFR	NHLRC1	ATAD3A	SCN1A	SCN9A	KCNB1	CDKL5	CILK1	NFKB2	ERBB4	GPAA1	MYT1L	CACNG2	NEXMIF	SLC9A7	DOCK7	LAMA2	TREX1	CSTB	CNKSR2	PDE2A	NSD1	GNAO1	PIGT	ADGRV1	WAC	GOSR2	PACS1	CNTN2	CAMK2B	MED12L	JRK	DPM3	GRIN1	SETD2	EFHC1	MBD5	PIGQ	GAL	ZMYND11	DMD	CIC	EPM2A	CACNA1H	ZEB2	ARHGEF6	TRPM3	SYNGAP1	SCN1B	DLL1	SLC6A1	ASH1L	MECP2	NBEA	IQSEC2	CUX1	KIRREL3	ACSL4	ALMS1	TCF4	NUBPL	ARX	SYP	WDR26	CHAMP1	DEAF1	KCNA1	RELN	ZNF711	GABRD	TSPAN7	EPB41L1	CUX2	NPRL3	MED12	MICAL1	ALDH7A1	ALDH4A1	ASAH1	STX1B	USP9X	HCN1	CACNB4	APC2	SLC35A3	SCN8A	AFF3	IL1RAPL1	DHFR	ADGRG1	SMPD1	PRICKLE2	EHMT1	DYRK1A	SMARCA2	PTEN	NPRL2	NGLY1	CAMK2A	HIVEP2	DLG3	PHGDH	PPP3CA	RORB	MID2	PAFAH1B1	PIGM	SLC12A5	GRIN2B	SET	SPATA5	EEF1A2	HNRNPK	SON	FRMPD4	SIK1	ALG13	DYNC1H1	RAB39B	PI4KA	STEEP1	ATP1A2	GRM7	GLI3	KDM5B	PNKP	SPATA5L1	DMXL2	SETD1B	FRRS1L	PLPBP	SLC13A5	CASK	AGTR2	GRIN2A	KCNQ5	SATB2	CLTC	DOCK8	RAB11A	UPF3B	RPS6KA3	CSNK2B	PGAP1	NUS1	SATB1	GLUD1	PTCHD1	DNM1	ALDH5A1	BRSK2	USP27X	PAK3	TAOK1	MAPK10	PIGP	ZNF81	DHDDS	SLC25A22	RNU4ATAC	HCFC1	GATAD2B
HP_ABNORMAL_GLOMERULAR_BASEMENT_MEMBRANE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GLOMERULAR_BASEMENT_MEMBRANE_MORPHOLOGY	COL4A4	GATA3	LMX1B	NOS1AP	ARHGDIA	COL4A3	CEP83	CFH	DGKE	RNU7-1	COL4A5
HP_ELEVATED_URINARY_MONOCARBOXYLIC_ACID_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_URINARY_MONOCARBOXYLIC_ACID_LEVEL	HGD	ALDH5A1	OXCT1	ACADM	NDUFB10
HP_ACUTE_PHASE_RESPONSE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_PHASE_RESPONSE	NF1	IFNGR1	PKLR	STING1	CDKN2B	SLC4A1	HBB	HLA-B	TICAM1	CP	CTLA4	HAVCR2	SLC25A11	COPA	SLC40A1	NLRP3	PRKAR1A	CDKN1A	PSMB10	TGFB1	PIEZO1	PSMB8	TMPRSS6	TTC26	GNAS	CARD10	PTPN22	SPP1	LPIN2	PSMG2	ARPC1B	HJV	STEAP3	DLST	IL10	TRAF3	SLC29A3	CLDN19	IRAK1	VDR	DEF6	CASR	PRF1	FTL	RET	PSTPIP1	ADORA2A	MVK	UNC93B1	TRPV6	CD247	STX11	STAT4	NFKBIL1	PRSS1	PRSS2	OCRL	HLA-DPA1	MEFV	PTPN2	SLC34A3	PSMB4	MDH2	IL1RN	SLC7A7	IL6	MIF	SDHB	P4HA2	CD244	PDE4D	KIF1B	CYP3A4	GNAS-AS1	BCS1L	CIITA	TLR3	UBA1	CPA1	VHL	MYD88	LACC1	AIRE	CDC73	ITK	IL37	SPINK1	CYP27B1	STXBP2	SDHAF2	XIAP	CPOX	TREX1	CYP2R1	IL2RB	STAT2	NLRC4	TNFRSF1A	KCNN4	GLRX5	GCM2	PSMB9	CASP10	POMP	OTULIN	KL	FTH1	HFE	CDKN1B	PTH	HMOX1	SDHC	FAM20A	MCM10	PUS1	SLC25A38	SLC34A1	SYK	TFR2	NLRP1	BMP2	HLA-DRB1	TBX1	SLC19A1	MEN1	IFNG	NLRP12	PRKCD	SLC22A4	CFTR	CTRC	PRTN3	LYST	MAX	HAMP	ANKRD55	NOD2	IL2RA	FH	IL36RN	HLA-DPB1	PHEX	ZNFX1	UNC13D	SDHA	TMEM127	SOST	STX16	CDKN2C	TBK1	ADA2	SDHD	RNU4ATAC	C2orf69
HP_ABNORMAL_GAMETOGENESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GAMETOGENESIS	TUBB8	PANX1	WEE2	TRIP13	PATL2
HP_NEURALGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEURALGIA	TRAF7	TERT	SUFU	PDGFB	SMO	SMARCE1	SMARCB1	NF2	PRNP	SH3TC2	AKT1	BAP1	PIK3CA
HP_PSYCHIC_EPILEPTIC_AURA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PSYCHIC_EPILEPTIC_AURA	RELN	PRRT2	DEPDC5	SCN8A	MICAL1	PDE2A	LGI1	GAL	NPRL3	NPRL2
HP_EPILEPTIC_AURA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPILEPTIC_AURA	RELN	NHLRC1	CACNA1A	SCN8A	ADGRG1	CNTN2	PRRT2	DEPDC5	GAL	NPRL3	EPM2A	SCN1A	SRPX2	MICAL1	KCNA1	NPRL2	PI4KA	TREX1	PDE2A	ATP1A2	LGI1
HP_ABNORMAL_URINE_METABOLITE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_METABOLITE_LEVEL	HSD17B10	PRODH	NPHS1	MYO1E	OFD1	KLF11	ARG1	SLC6A19	CFH	PDX1	GATA6	LPIN2	OPA3	AGA	INF2	SDHA	FAH	AMMECR1	PREPL	G6PD	INS	HPRT1	GTF2I	SUMF1	NUP133	CTNS	CTLA4	NCF1	SLC25A11	PNP	BCKDHA	TRPC6	SUCLG1	EIF4H	TOP2A	UNC45A	ACAT1	MICOS13	SLCO1B1	PGAM2	MTHFR	SUCLA2	COL2A1	LRP2	CTH	DCXR	WT1	FH	GCK	TAFAZZIN	GALK1	MT-TH	HELLPAR	UMPS	SPP1	PAX2	PTPRO	KANK2	DNMT3A	WDR4	TPRKB	ALG9	TBC1D8B	DLST	ASL	DNAJC19	HAL	PYGL	PHKB	MT-CO1	NEU1	MARS1	MT-ND1	CLCNKB	TREX1	NT5C3A	RET	HPD	SERAC1	PAH	GLYCTK	THBD	GCLC	PHKG2	RNU7-1	AGK	PYGM	TIMM50	PHOX2B	LIN28B	MTR	VHL	TAT	KIF1B	SLC36A2	SLC5A1	NAGLU	CLCN5	DBT	PUS3	SMARCAL1	NEUROD1	DLD	OGDH	SGPL1	TRPV6	EHHADH	ALAD	SDHD	ACADVL	WDR73	BCL7B	MT-TF	GCDH	OXCT1	SLC3A1	TRNT1	CHUK	CA5A	HLA-DPA1	KARS1	SGSH	CFI	NUP37	MMACHC	MTRR	TP53	TNFRSF11A	PMM2	NIPBL	FUCA1	UROS	PPM1B	SUOX	MT-CO2	KHK	AMT	BLK	PLCE1	CPOX	PLOD2	TMEM127	ATP7B	MT-TL1	HNF1B	COL4A4	METTL27	KYNU	TANGO2	PGK1	CPT2	HMGCL	RYR1	APRT	SLCO1B3	NOS3	WDR19	HADH	PKD1	ATP6V1B2	GATM	NUP160	GCSH	GAPVD1	AUH	GANAB	SCARB2	IDS	ACADM	HADHB	APC	COX14	SLC12A1	CD2AP	IFT172	GALNS	MYH9	ELN	SLC34A1	SDHAF2	GBA	CD46	FBP1	COL4A6	DNASE1L3	RFC2	NGLY1	GALE	EMP2	SMARCA2	ATAD3A	MAGI2	PDSS2	SLC6A20	CORIN	PRPS1	SLC5A2	PKD2	PRDX1	KRT18	FKBP6	SLC2A2	CLPB	PIGB	LYZ	PCCB	KCNJ1	ACTN4	FLT1	ERCC5	SDHB	PEX5	CRPPA	PIK3CA	ETFB	GRHPR	ERCC6	FKRP	BUD23	NFS1	HMBS	DNAJC30	STAT4	CLTRN	PCBD1	AASS	BICC1	LMX1B	SAA1	SLCO2A1	LAGE3	RRM2B	VPS37D	PCCA	GUSB	FN1	MMAA	DGKE	ZAP70	PRTN3	KCNJ11	PEX1	CBS	LDHA	NUP107	OSGEP	MMAB	ERCC8	COL4A3	CACNA1S	SLC2A9	DNAJB11	MT-TE	BSND	PHKA1	HLA-DPB1	NSMCE2	APOA1	ARSB	SLC22A12	GLUD1	PIGA	B2M	ARHGAP24	LCAT	KCNE5	GLA	ETFA	MT-ND4	BCS1L	SLITRK6	AMN	FARS2	MVK	OTC	ACP5	SLC16A12	CEL	SARDH	OCRL	FGA	ADAMTS13	PPOX	CASK	NF1	YRDC	MLXIPL	MT-ND6	SLC25A13	PLOD1	ABCD4	TRIM8	STAT3	ABCC8	ETFDH	PFKM	TKT	G6PC1	MCEE	SGCB	TBC1D24	MAX	DDOST	POLG	KRAS	HNF4A	LIMK1	PAX4	MMADHC	HGD	CAMKMT	GLB1	VPS33A	GSN	GNPTAB	HADHA	NAGA	MT-TW	NUP85	UROC1	PSTPIP1	GATA3	IER3IP1	SLC7A9	KIRREL1	ALDOB	PCK1	COX16	IDUA	MYCN	NDUFB10	MAFB	CUBN	SLC35A1	ATP5F1E	CPS1	OPLAH	IRAK1	ALPL	LMO1	KRT8	C3	CASR	SH2B1	MT-CO3	MCCC2	KLF6	PIGT	CD81	TMEM70	GAA	SARS2	XPA	SLC12A3	SLC37A4	NOTCH2	IVD	ANLN	ACSL4	HACE1	SLC6A18	MCCC1	STOX1	SURF1	LMNB2	IL1B	NPHS2	DMGDH	MDH2	MIA3	SLC7A7	ALDH4A1	TK2	FAN1	SLC1A1	ANO5	PHKA2	TP53RK	ALK	HGSNAT	LAMB2	COQ2	BCKDHB	TNFRSF11B	APPL1	ERBB2	CRB2	HNF1A	ERCC4	ASS1	TBL2	PEPD	MAN2B1	GLDC	XPC	SLC16A1	PTPN22	MAF	DPYD	SMAD4	IL1RN	GNS	ARHGDIA	MT-TK	DHTKD1	GK	CYP27B1	DDB2	GPHN	HCFC1	APOE	LMBRD1	TMEM270	FOXC2	SNAP29	COA8	CYP2R1	GUCY2D	MEFV	MT-TS2	PET100	STAT2	ALDOA	NUP93	FGFR2	PIK3C2A	GYS2	NDUFAF6	NOS1AP	STX1A	DGUOK	GSS	MUTYH	BAZ1B	FTCD	COL4A5	HMOX1	SDHC	SLC19A2	HTRA2	LPIN1	MIR140	ITGA8	CD59	MT-ND5	RMRP	IRF1	ITGA3	STK11	SNX14	PIEZO1	MT-TN	CASP10	COQ8B	GTF2IRD2	CLDN16	MTX2	GALT	OAT	DMD	CFB	FMO3	SPRY2	RPIA	XDH	APOL1	ERCC3	LMNA	GEMIN4	DBH	MOCS2	NUP205	SLC25A15	SPINK5	TTC37	GATA1	ASPA	COQ6	ALDH5A1	HFE	ERCC2	ATP5F1D	ISCU	ANKFY1	EPAS1	CLIP2	MOCS1	HIBCH	GTF2IRD1	ATPAF2	SUGCT	MT-TQ	CLCNKA	MANBA
HP_ABNORMAL_URINE_OSMOLALITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_URINE_OSMOLALITY	AVPR2	SLC12A1	CLCN5	AQP2	NPHP1	KCNJ1
HP_IRREGULARLY_SHAPED_SPERM_TAIL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRREGULARLY_SHAPED_SPERM_TAIL	DNAH10	DNAH8	CFAP47	IFT74	CFAP91
HP_TISSUE_ISCHEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TISSUE_ISCHEMIA	PTPN22	IL12A-AS1	CALR	ENG	MLXIPL	MPL	TGFBR1	IL12A	MYBPC3	LOX	RNF213	APP	HLA-B	MAT2A	TBX20	ELN	TGFBR3	PIK3CA	TMEM270	GTF2I	TLR4	ACTB	ABCC6	CTLA4	NCF1	RFC2	SMARCAL1	NPPA	IL10	LIMK1	EIF4H	ACTG1	PRKG1	NKX2-5	NAGS	PIK3C2A	JAK2	FKBP6	ACTA2	STX1A	GLA	ERAP1	GDF2	ZMPSTE24	SLC2A10	THPO	CITED2	BAZ1B	COL3A1	THSD1	BRCC3	TET2	SON	CBS	TGFBR2	RASA1	BUD23	LMNA	MLX	IL12B	STAT4	FBN1	DNAJC30	UBAC2	MYH6	SMAD4	ACTC1	ENPP1	KRAS	MFAP5	GTF2IRD2	HLA-DRB1	SMAD3	COL4A1	IFNGR1	MEFV	EPHB4	VPS37D	CTNNB1	SCN5A	GATA6	BRAF	C4A	BCL7B	SH2B3	PRTN3	SMAD2	HTRA1	IKBKG	HLA-DPA1	GUCY1A1	NOTCH3	TP53	TGFB2	MYH7	SCNN1B	FOXE3	ACVRL1	ANGPTL6	HLA-DPB1	KLRC4	MYLK	ADA2	GATA4	P4HA2	SCNN1A	CCR1	SCNN1G	GNB2	TGFB3	TLL1	IL23R	HEY2	METTL27	TBL2	CLIP2	MYH11	FAS	GTF2IRD1	ADAMTS13
HP_NEUROINFLAMMATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEUROINFLAMMATION	C4A	HLA-B	IL12A-AS1	TLR4	IL12A	POLG	CCR1	ERAP1	IFNGR1	IL10	MEFV	FAS	NLRP3	TK2	STAT4	UBAC2	NOD2	IL23R	KLRC4
HP_TUBE_FEEDING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TUBE_FEEDING	MOGS	PTCH1	UNC80	DCPS	ALS2	MYO1H	CACNA1I	NCDN	TBCK	BRAF	KANSL1	DPM1	DPM2	SNRPN	MED25	SHH	PIGC	CDH15	CDON	ZC3H14	SIX3	PRPS1	KIF1A	CTCF	GPT2	TGIF1	STAG2	C2CD3	KRT5	PSAP	YY1	TOR1A	PIGW	TRIO	SATB2	PUF60	NHLRC1	TRAPPC9	GAS1	SARS1	ALG12	DCHS1	FOXH1	DLL1	ERBB4	MYT1L	FGF8	FGFR1	ZIC2	CACNG2	PIGL	TPM3	GLI2	CREBBP	EDEM3	IDH1	EN1	UBTF	C12orf4	ZNF699	TDGF1	PIGT	CC2D1A	IQSEC1	NONO	WAC	ITGA7	RALGAPA1	PACS1	NALCN	CAMK2B	NACC1	TXN2	MED12L	FMN2	GRIN1	SLC1A4	TSEN34	MBD5	SLC5A6	ZMYND11	CIC	EPM2A	FRRS1L	PPP2R1A	STIL	PIGV	TSEN15	TRPM3	GALC	SMC1A	ASH1L	NBEA	SEPSECS	CUX1	KIRREL3	NODAL	KNSTRN	ASPA	CLCN6	MBOAT7	FUS	TCF4	HNMT	WDR26	CHAMP1	SCN1A	COL7A1	MTRFR	SETBP1	DEAF1	MGAT2	CRBN	COQ2	DNM1L	GRM7	MYL2	TTC5	PTCD3	EPB41L1	GNB2	DEGS1	MAP3K20	TSEN54	LINS1	TUSC3	DISP1	PNPT1	DALRD3	LMAN2L	LONP1	ITCH	MT-TE	ACTA1	UBE4A	NSUN2	TRIP4	EZR	RTL1	RSRC1	ADNP	TNIK	SPTLC1	SIGMAR1	FAT4	CLIP1	PRICKLE2	DYRK1A	COL4A6	WASHC4	B3GALT6	TSEN2	PGAP1	CAMK2A	SPTBN4	HIVEP2	HECW2	PGAP3	PPP3CA	UGDH	TPM2	RECQL4	CARS2	UFSP2	SIM1	CLN8	NDST1	SCN3A	GRIN2B	SET	SRCAP	PGAP2	SPATA5	EEF1A2	NAA20	MEG3	CLCNKB	KCNK9	KLHL40	COL4A5	HNRNPK	SON	TECR	ACSF3	FBXO31	SLC12A2	BLM	PDE10A	KRT14	TOM1	ANAPC1	DYNC1H1	LRPPRC	PLP1	FOXP3	KDM5B	COL2A1	MFF	SELENON	COX8A	SLC45A1	MPDU1	SETD1B	PRSS12	SPG11	B3GALNT2	PTPN23	TFG	CLTCL1	SPOP	GRIK2	PIGO	AASS	KCNQ5	CRADD	RNF13	GFM2	EP300	FDFT1	PIK3CD	METTL23	ST3GAL3	HACD1	ALKBH8	COG5	CLTC	AIMP1	ASXL3	DOCK8	SLC35A2	PDHA1	RAB11A	BSND	PIGU	EDC3	MED23	MAN1B1	CSNK2B	ABCD1	TRAPPC12	PSAT1	DLK1	BRSK2	YARS1	PIGY	SYNGAP1	TAOK1	KIAA0753	AFF4	PDSS2	MAGEL2	NEMF	AP1G1	CLCNKA	TRMU	GNPTAB
HP_ELEVATED_URINARY_DICARBOXYLIC_ACID_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_URINARY_DICARBOXYLIC_ACID_LEVEL	HMBS	UROS	CPOX	ALAD	GATA1	PPOX
HP_ABNORMAL_CIRCULATING_BILIRUBIN_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_BILIRUBIN_CONCENTRATION	AKR1D1	TNPO3	UGT1A1	PKLR	SLCO1B3	LBR	SLC25A13	POMC	VPS33B	TMEM67	ABCC2	EPB42	ABCB4	SLC4A1	PRKCSH	TSHB	RHAG	CYP7B1	PFKM	G6PD	NR1H4	FBP1	KCNN4	LIPT1	CPOX	FARSB	OSTM1	KIF23	PEX19	GYPC	MED12	MMEL1	SPTB	PIEZO1	SLC51A	SLCO1B1	TTC26	CPT2	GLRX5	FH	TSHR	PAFAH1B1	ALDOB	DGUOK	IRF5	SPIB	ABCB11	SPTA1	EIF2AK3	IL12A	ATP8B1	SEC63	ANK1	BAAT	PRF1	UBE2A	ADK	TG	ZNF699	RFX6	SLC35A2	PAX8	HSD3B7	SC5D	GPX1	IL12RB1	ABCD3	SLC19A1	PGK1	DUOX2	SLC10A1	WDR35	RHD	RHCE	VIPAS39	TPO	SPTBN1	IYD	TNFSF15	LRP5	SLC17A5	MTTP	UROS	KLF1	GATA1	HBB	PKHD1	DUOXA2	AMACR	TRMU	SLC5A5	HK1	SLC2A1	SLC30A10	ODC1	POLG2	GSR	KIF12	IGF1	PIGA	POU2AF1	DCDC2	EPB41	CASK
HP_ACUTE_CORONARY_SYNDROME	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACUTE_CORONARY_SYNDROME	SCNN1G	ABCG8	IL12A-AS1	CALR	ENPP1	MLXIPL	GTF2IRD2	IL12A	BCHE	VHL	IFNGR1	MEFV	MPL	ABCA1	JAK2	CDH23	IRF4	HLA-B	LPL	VPS37D	MYH9	CTNNB1	LDLR	BRAF	CFTR	ELN	C4A	IKZF1	BCL7B	SH2B3	TMEM270	GTF2I	TLR4	NCF1	RFC2	CBS	IL10	LIMK1	TP53	EIF4H	CYP27A1	SCNN1A	APOB	MEF2A	KLRC4	LDLRAP1	FKBP6	STX1A	GLA	CCR1	ERAP1	PTPN11	PCSK9	ZMPSTE24	LMNA	RAF1	THOC2	ABCC6	BAZ1B	DYRK1B	IL23R	USP8	TET2	WRN	HGD	CEP19	LRP6	SCNN1B	METTL27	TBL2	CLIP2	BUD23	FAS	GTF2IRD1	MLX	CELA2A	IL12B	STAT4	DNAJC30	UBAC2	SLC2A10	PIGA	ABCG5	ADAMTS13
HP_ABNORMAL_MUSCLE_FIBER_TYPE_DISTRIBUTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MUSCLE_FIBER_TYPE_DISTRIBUTION	KCNA1	NEB	GARS1	LMOD3	CHRND	ACTN2	TPM2	BIN1	TPM3	LAMB2	DNM2	RYR1	TTN	KLHL41	DYNC1H1	ACTA1	COL6A1	GFPT1	CFL2	SPEG	MYH7	DOK7	MUSK	CHRNE	KY	MTMR14	COL6A2	ALG2	AGRN	CLCN6	LRP4	COL6A3	FXR1	MYPN	CHRNA1	KBTBD13	TNNT1	KLHL40	CHRNB1	SCN4A	VCP	GMPPB	MYF6	ALG14	AK9	COQ5	PNPT1	COLQ	RAPSN	UNC45B	POMT1	DPAGT1	COL13A1
HP_SHORT_TERM_MEMORY_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHORT_TERM_MEMORY_IMPAIRMENT	MAPT	RRM2B	GSN	RNASEH1	PRNP
HP_PULMONARY_INTERSTITIAL_THICKENING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_INTERSTITIAL_THICKENING	CSF2RB	SFTPB	SLC34A2	SFTPC	EIF2AK4	BMPR2
HP_EEG_WITH_FRONTAL_EPILEPTIFORM_DISCHARGES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_FRONTAL_EPILEPTIFORM_DISCHARGES	PI4KA	GRIN2A	SPATA5	ADGRG1	FRRS1L	SRPX2
HP_EEG_WITH_PARIETAL_EPILEPTIFORM_DISCHARGES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_PARIETAL_EPILEPTIFORM_DISCHARGES	PI4KA	TRIM8	TFE3	ADGRG1	TBC1D24	SRPX2
HP_EEG_WITH_CENTROTEMPORAL_EPILEPTIFORM_DISCHARGES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EEG_WITH_CENTROTEMPORAL_EPILEPTIFORM_DISCHARGES	SRPX2	GRIN2A	IQSEC2	GABRG2	FRRS1L
HP_LUPUS_NEPHRITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LUPUS_NEPHRITIS	PTPN22	CTLA4	DNASE1	FCGR2A	FCGR2B	TREX1
HP_ABNORMAL_EXTEROCEPTIVE_SENSATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EXTEROCEPTIVE_SENSATION	SACS	AIFM1	IL12A-AS1	CALR	UNC80	IL12A	POLG	MPV17	YY1	SPTLC1	CACNA1A	KRT9	NDN	SLC2A1	PMP22	AIP	SDHA	HLA-B	SNRPN	SCN9A	PSAP	ATXN1	H19	JAG1	ABCA1	LIG3	KRT1	LIFR	KLHL9	ERAP1	CTDP1	OPA3	CCT5	EBF3	MEN1	MLH1	HDAC4	CUBN	TET2	GNA11	NEFL	NGF	CLCNKB	MADD	KRT5	NTRK1	NF2	STAT4	ATP13A2	FAR1	UBAC2	UBTF	DEAF1	SPTLC2	PRNP	SCN11A	DKK1	DHH	HK1	TGM1	SLC12A3	NALCN	MEFV	MPL	CASR	SORD	SBF2	RPS20	ALAD	GNAS	NTNG1	SHANK3	ZEB2	SH2B3	GALC	KIF1A	HPGD	MECP2	SEMA4A	DSE	CHAMP1	RAI1	MKRN3	GDAP1	KRT14	TDP1	GJB1	P4HA2	UROS	MAGEL2	NAGLU	EPCAM	OCA2	CCR1	SMC1A	JAK2	SLC19A2	PMS2	NAGA	ELP1	NARS1	COL1A1	NPRL3	SCN1A	TYMP	SLCO2A1	NPAP1	PRRT2	PIK3CA	SCN10A	APP	ALDH4A1	PWAR1	FGD4	IGF2	MPZ	RELA	PTPN22	HEXB	SLC12A1	WNK1	SCN4A	MLH3	TLR4	GABRG2	TGFBR2	NPRL2	PRPS1	IL10	ATL3	VCP	KIF5A	MSH2	DDHD1	TNFRSF1A	FBN1	KRAS	MORC2	KDM5C	PMS1	SIM1	GLA	ATL1	KCNJ1	SLC26A2	THPO	MFN2	PDCD1	HARS1	SYNGAP1	HNRNPK	CHST14	RRM2B	MTHFR	CDKL5	KRT16	TK2	HMBS	HINT1	ATP1A2	GNA14	GPR101	NGLY1	ABCD1	HLA-DRB1	FLII	TRAPPC2	UROD	IFNGR1	RETREG1	CLTCL1	ZFTA	MSH6	CCND1	NLRP3	DCAF8	HERC2	SCYL1	VWA1	C4A	GBE1	BMPR1A	PWRN1	TP53	ZFHX2	SH3TC2	GRIN2A	FAN1	SNORD115-1	KLRC4	LMX1B	GATA1	HSPB1	PLEKHG4	SETX	DEPDC5	GRIA3	ALDH18A1	IL23R	FMR1	SEPTIN9	HPDL	IQSEC2	STX16	GABBR2	KCNQ1OT1	TMEM218	HLA-DQB1	COMP	SNORD116-1	FAS	SRPX2	CBLIF	AEBP1	SERPING1
HP_DEATH_IN_ADULTHOOD	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEATH_IN_ADULTHOOD	POLG	KRAS	MLXIPL	PMS1	GTF2IRD2	FKBP6	EPCAM	STX1A	ACTB	MSH6	PMS2	VPS37D	DSP	BAZ1B	APP	MLH1	VPS4A	ELN	SCN4A	MLH3	BCL7B	TMEM270	GTF2I	NCF1	METTL27	TBL2	CLIP2	TGFBR2	PIK3CA	RFC2	BUD23	GTF2IRD1	RPS6KA3	LIMK1	TYMP	EIF4H	SLC9A6	DNAJC30	FAN1	MSH2	CST3	BCS1L
HP_SUPERNUMERARY_CUSP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUPERNUMERARY_CUSP	CHSY1	EP300	NHS	NEK1	CREBBP
HP_ABNORMAL_LEUKOCYTE_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LEUKOCYTE_PHYSIOLOGY	CIITA	IFNGR1	TNPO3	FASLG	MOGS	COMT	SLC25A13	WAS	STING1	REL	ICOS	SKIV2L	RIPK1	MTOR	RTEL1	PIK3CD	CD19	JAK3	LEPR	RFXANK	PRKCD	IKBKB	IL6ST	PIK3R1	STAT5B	GATA3	RAG1	CD79A	ZBTB24	NFE2L2	AK2	TIMM8A	TNFRSF13B	SMARCAL1	DGCR6	PNP	KRT5	BLNK	DCLRE1C	TCF3	VPS33A	TCF4	TP53	RAC2	MMEL1	PSMB8	LAMTOR2	ERCC3	UMPS	PLCG2	TBX1	IGKC	PGM3	MPLKIP	PSTPIP1	ALG12	AICDA	CARD10	CDSN	CD3E	TNFRSF13C	CXCR4	CD3D	CD40LG	NFKB2	SLC26A9	RAG2	BACH2	IL12A	XIAP	CASP10	PLA2G7	ARVCF	GTF2E2	ALB	IKBKG	CD247	TNFSF12	NRAS	UFD1	DEF6	DCTN4	PRF1	IRF2BP2	MUC5B	MS4A1	CARD11	ERCC2	KRT9	CASP8	PIGT	PTEN	CD27	CD81	SH3KBP1	TFRC	NSMCE3	STAT3	IGLL1	MVK	HLA-DQA1	LRRC8A	IL12RB1	IGHM	DOCK8	HIRA	NFKB1	CFTR	TPP2	SFTPA2	LEP	SLC5A6	ZEB2	TNFRSF1B	MIF	TRNT1	EDNRA	TONSL	TGFB1	KNSTRN	IL7R	MSN	MS4A2	IKZF1	PSMB4	LCP2	PMM2	IL6R	CR2	ELANE	CD70	SLC9A3	TTC37	GTF2H5	MGAT2	TARS1	HYOU1	COL1A1	TERT	GCLC	SEC24C	RNF168	KRT1	PEPD	ITCH	CDCA7	MYD88	LRBA	ESS2	CD79B	CARMIL2	POU2AF1	SP110	EPG5	GPC3	SCARB2	CARD9	ITK	CEACAM6	EXTL3	CLCA4	NHEJ1	ZAP70	RFXAP	SLC46A1	FOXP3	IL21	FAS	STXBP2	CAVIN1	GBA	MAN2B1	SFTPC	FAT4	RASGRP1	VPS45	HFE	DNMT3B	MRTFA	IRAK4	MAGT1	SEMA4D	HMOX1	CD55	RFX5	KRAS	CTLA4	CD40	NLRC4	TCN2	IL4R	MTHFD1	TYK2	ADAMTS3	PSMB9	BCL10	UNG	POMP	OTULIN	RNF113A	IL2RB	IRF5	CD28	SPIB	STX1A	CISD2	LIG4	NCKAP1L	IL2RA	HELLS	ATM	DGCR2	SON	CCND1	IGHG2	BLM	AP3B1	WIPF1	KRT14	TOM1	RMRP	SLC6A14	ATP6AP1	SH2D1A	RNU4ATAC	SYK	JMJD1C	SPINK5	STX11	IL2RG	SLC39A4	NLRP1	CEACAM3	CNBP	KRT74	CTPS1	MYSM1	PLVAP	NBN	SAMD9L	GPR35	IL21R	BTK	CCBE1	LAT	COG6	MST1	KLHDC8B	UNC13D	TNFSF15	SLC35C1	ADA	IPO8	GPC4	HLA-DQB1	SPPL2A	FCGR3A	CSNK2A1	KCNN4	SETX	B2M	SLC11A1	IFIH1	ATP6AP2	LMNA	DGCR8	RREB1	SLC7A7	GSTM3	COL7A1	IVNS1ABP	GP1BB	ADAM17	ADA2	SERPINA1	FLNA	RBM8A	RAB27A	HLA-DRB1	TNFRSF11A
HP_ABNORMAL_CIRCULATING_SEX_HORMONE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_SEX_HORMONE_CONCENTRATION	FSHR	TP53	EIF2B1	EIF2B4	AR	SRY	BMP15	SPIDR	TACR3	VAMP7	FGF17	ZFPM2	NR0B1	TXNRD2	CPE	LEPR	GNAS	GATA4	SOX9	BNC1	POLR3H	MAP3K1	CYP11B1	FOXL2	DCAF17	SPRY4	STAR	FSHB	NR5A1	DHX37	EIF2B5	BAP1	FGD1	INSR	NR2F2	SMARCE1	NF2	HSD3B2	LARS2	DHH	NFKB2	CHD7	FGF8	XRCC2	TRAF7	POLA1	WDR11	WT1	SMO	DMXL2	WWOX	HS6ST1	FGFR1	GNRH1	MRAP	CYP11A1	ALG6	AKT1	CTDP1	DUSP6	EIF2B2	LHB	GNRHR	SLC39A4	PROK2	CYP17A1	KISS1R	DMRT3	POR	LEP	NNT	B4GALNT1	SMARCB1	ALMS1	WNT4	POLR3A	KISS1	TAC3	SUFU	HFE	NSMF	PSMC3IP	CYB5A	NUP107	PROKR2	EIF2B3	MC2R	TERT	RBM28	PDGFB	NR3C1	MRPS22	NDNF	LGR4	PIK3CA
HP_BLISTERING_BY_ANATOMICAL_LOCATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLISTERING_BY_ANATOMICAL_LOCATION	KRT5	ITGB4	KRT14	LAMC2	FERMT1	KRT17	DSG1	LAMA3	PLEC	COL17A1	ITGA6	LAMB3	COL7A1	KRT6B	CD151	SMARCAD1	KRT6A	MMP1	DSG3	COL2A1	KRT1	KRT16
HP_BLISTERING_BY_HISTOLOGICAL_LOCATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLISTERING_BY_HISTOLOGICAL_LOCATION	KRT5	KRT14	COL7A1	PLEC	LAMC2	LAMA3	ITGA6	ITGB4	LAMB3
HP_ABNORMAL_RENAL_VASCULAR_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_VASCULAR_MORPHOLOGY	LDLRAP1	ABCG8	VHL	ELN	SDHD	STAT1	MLXIPL	KIF1B	PNPLA2	PCSK9	JAG1	NF1	LDLR	TMEM127	POU3F4	ALG9	SDHB	YY1AP1	MAX	ADA2	RET	APOB	FIG4	ABCG5	VAC14
HP_VIRAL_ENCEPHALITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VIRAL_ENCEPHALITIS	TLR3	CD27	DBR1	TICAM1	NCKAP1L	HYOU1	STAT1	SNORA31	TBK1	UNC93B1
HP_ABNORMAL_CIRCULATING_GABA_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_GABA_CONCENTRATION	MPO	NOS3	ALDH5A1	APP	HFE	PLAU
HP_PERIPHERAL_CYANOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_CYANOSIS	TCF4	COL1A1	ETHE1	AGXT	RNASEH2B	MVK	TREX1	ELP1	ADAR	KCNQ2	PAX3	FUCA1	SEPTIN9	RNASEH2A	RPS6KA3	COL5A2	RNASEH2C	KCNQ3	IFIH1	SAMHD1	COL5A1
HP_FETAL_ANOMALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FETAL_ANOMALY	FASLG	PKLR	IL7R	TREM2	MYO9A	AGRN	BIN1	CTSA	BNC2	TBCK	UQCRFS1	GATA1	NDN	GATA6	RAG2	RRAS	KANSL1	PREPL	RIT1	FGFR3	NDUFV1	GTF2I	SNRPN	PEX3	NCF1	HSPG2	VCP	SCN3A	CHMP2B	MT-ND3	RYR1	EIF4H	PEX19	NTRK2	TOR1A	PIGW	NELFA	MPZ	RPL18	SZT2	SYT2	TTC26	ATP8B1	RAG1	SLC25A1	ALG1	ODC1	LETM1	MYLPF	IGHMBP2	NDUFS6	MYF6	CHRNG	EBF3	TRIP4	RAPSN	MAPT	MYCN	CASP10	PACS1	NDUFAF1	NEU1	BICD2	SLC26A2	SMN1	SPTA1	NDUFAF3	SLC6A9	YWHAG	COL6A3	NDUFS1	SMC3	GLE1	TSFM	PHGDH	ARV1	ITGA7	SOX18	ABCC6	OSTM1	EFNB1	ACTA1	NDUFS8	CPLX1	WDR35	CRPPA	MRAS	BUB1B	NALCN	ATP1A2	BCL7B	CACNA1A	KCNB1	CLCN3	SLC3A1	PEX6	CHUK	MYOD1	RPL27	KIAA0586	FANCB	NDUFS2	SYNJ1	DDX6	IKZF1	RPL35A	MMACHC	MKRN3	RPS10	MYH7	PMM2	NDUFB10	IL1RN	DYNC2I1	RPS26	FLT4	FLNB	SLC17A5	EBP	PSAT1	LMOD3	PEX12	GPKOW	UBA5	UROS	MAGEL2	PPM1B	SCYL2	RPS15A	DOK7	MAP3K20	PIGN	CALCRL	TIMMDC1	METTL27	NPAP1	DHCR7	GABRB2	NPC2	NSD2	TRIP11	COL6A2	CEP57	TMCO1	GRIN2D	GRN	ALG9	PEX16	SMC1A	FIG4	OCA2	ATP6V1B2	ERGIC1	DMPK	SPEN	RPL15	HADHB	DNM2	MYL9	ALDH7A1	RAD21	CCDC174	POLR2A	DNM1L	NDUFAF4	ELN	KLHL41	ENPP1	NR1H4	NECAP1	GBE1	SLC1A2	EEF1A2	RFC2	KRAS	KCNA2	AARS1	PIEZO1	MYPN	ZMPSTE24	GYPC	QRICH1	ERCC5	ADAMTS3	SLC27A4	TPM2	PEX26	CARS2	NDUFS7	FKBP6	SPRED2	BRD4	SLC5A7	LMNA	ADGRG6	IL2RB	SELENON	PGAP2	ACTL6B	CSGALNACT1	RAI1	PTH1R	IGF2	SON	VPS13B	CTBP1	CNTNAP1	COL13A1	RASA1	BUD23	COL6A1	MYH3	DNAJC30	MCM10	GRIP1	TRAIP	NFASC	CHRND	ADARB1	NEB	LGI4	PEX14	COL11A1	CYFIP2	FLII	FAS	RPS24	UROD	GFPT1	EPHB4	TTC7A	EMC10	ASCC1	VPS37D	DEAF1	GUSB	SLC13A5	DNA2	PSEN1	TAPT1	DNM1	ADA2	GABRA5	RPS19	NUP88	GBA	HACD1	BUB1	FXR1	SNORD115-1	CNKSR2	EXOSC9	PARS2	TRIP13	KLHL40	B3GLCT	CLTC	ALG14	TRPV4	CHRNA1	HNRNPK	DYNC2H1	LIG4	AFF2	WNT7A	AGGF1	SNORD116-1	AP3B2	PTPN11	PIGG	NDUFB3	MLXIPL	NDUFA1	HDAC8	NDUFB9	PLOD1	NDUFAF5	BSND	RIPK4	NRAS	ALG8	SNAP25	TGM1	PRKCD	HBA1	MCTP2	ASAH1	TBC1D24	CTCF	RAF1	KIF20A	FOXRED1	LIMK1	NSF	CAMKMT	GLB1	CHRNE	HADHA	COL2A1	NUP188	RPS17	RPS7	ATN1	KBTBD13	TALDO1	QRSL1	VAC14	HSD17B4	FGF13	C9orf72	RPS28	SLC16A2	NUS1	GABRA2	RPL35	LZTR1	SCN8A	GMPPB	PIGL	TPM3	RPL5	NEXMIF	MTMR14	NDUFAF2	HOXD13	NDUFAF8	PAX7	PTRH2	MYL1	ATP1A3	CDK19	DPAGT1	RPS27	ZNF699	MT-ND2	MTM1	KIF5C	SLC25A26	POR	CHAT	RPS20	HBA2	PIGV	WASHC5	HCN1	COL1A1	PIGS	FOXF1	SOS1	MYMK	CNTN1	GPC6	ALPK3	ATAD3A	SPTB	GLDN	KLF1	H19	MGAT2	GGPS1	TMEM126B	MYL2	CACNA1B	GNB2	ADA	SOS2	SQSTM1	MKS1	TMEM106B	MUSK	CDAN1	BUB3	TBL2	PWAR1	TRIM37	WT1	TRAF7	RASA2	WWOX	PEX1	SYNGAP1	FGFRL1	GATB	NDUFS3	PEX11B	NIPBL	DCLRE1C	NDUFB11	IL2RG	CELF2	TMEM270	USP7	VAMP1	MEGF10	FAT4	RASGRP1	NEK9	PEX10	PEX13	DYNC2I2	NDUFS4	ASCL1	OFD1	PEX5	PGAP3	PPP3CA	STX1A	COL12A1	ATP6V1A	SCARF2	PIGY	GATC	CHD7	AHCY	BAZ1B	TRAK1	GABRG2	RPL11	SLC18A3	RRAS2	LBR	MECOM	SYNE1	RPL26	PLD1	GTF2IRD2	CCDC22	PLPBP	SLC25A19	ERBB3	UBA1	PIGO	HERC2	ABCB4	PRUNE1	FGF12	FANCF	NPC1	CCBE1	PEX2	HRAS	NDUFA11	PWRN1	RET	COL1A2	SLC35A2	HLCS	BMPER	COX15	IPO8	ZC4H2	RPL31	NDUFV2	NDUFA6	PIGA	DPYSL5	RPS29	WDR62	MT-ND1	DHDDS	IFT80	ZBTB42	NEK1	TSR2	EIF5A	WNT3	IQSEC2	CLIP2	CBL	GTF2IRD1	UNC45B	RMRP	NUBPL	RNU4ATAC	DALRD3	PHOX2B	EPB41
HP_ABNORMAL_FETAL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FETAL_MORPHOLOGY	FASLG	PKLR	MLXIPL	IL7R	TREM2	HDAC8	CTSA	BNC2	TBCK	GATA1	BSND	GATA6	RAG2	RRAS	NRAS	KANSL1	ALG8	GRN	TGM1	PRKCD	HBA1	MCTP2	RIT1	FGFR3	ASAH1	FIG4	GTF2I	TBC1D24	ABCC6	PEX3	HSPG2	NCF1	RAF1	KIF20A	CHMP2B	VCP	LIMK1	NSF	GLB1	EIF4H	PIGW	HADHA	RPL18	COL2A1	RPS17	RPS7	ATN1	TALDO1	QRSL1	VAC14	HSD17B4	FGF13	RAG1	C9orf72	ALG1	ODC1	RPS28	MYLPF	RPL35	NDUFB10	MAPT	LZTR1	CASP10	PACS1	PIGL	FANCB	RPL5	NEU1	HOXD13	SLC26A2	SPTA1	RPS27	ZNF699	SMC3	SOX18	EFNB1	POR	WDR35	MRAS	RPS20	BUB1B	HBA2	RYR1	PIGV	BCL7B	WASHC5	CLCN3	PEX6	COL1A1	RPL27	KIAA0586	PEX19	FOXF1	SOS1	DDX6	RPL35A	MMACHC	GPC6	RPS10	PMM2	GUSB	ALPK3	DYNC2I1	PTH1R	SPTB	RPS26	FLT4	FLNB	SLC17A5	EBP	PEX12	UROS	KLF1	MGAT2	EPHB4	RPS15A	GNB2	ADA	PIGN	SOS2	SQSTM1	MKS1	TMEM106B	CALCRL	CDAN1	METTL27	BUB3	TBL2	NPC2	TRIP11	CEP57	TRIM37	WT1	PEX16	SMC1A	ATP6V1B2	TRAF7	RASA2	PEX1	RPL15	DHCR7	HADHB	MYL9	RAD21	GATB	PEX11B	NIPBL	DCLRE1C	ELN	ENPP1	IL2RG	NR1H4	TMEM270	GBE1	RFC2	FAT4	RASGRP1	NEK9	KRAS	PEX10	PEX13	PIEZO1	HNRNPK	DYNC2I2	GYPC	QRICH1	ADAMTS3	OFD1	PEX5	PGAP3	SLC27A4	PEX26	CARS2	FKBP6	SPRED2	BRD4	STX1A	SCARF2	PIGY	GATC	CHD7	AHCY	PGAP2	BAZ1B	CSGALNACT1	RPL11	RRAS2	RASA1	BUD23	LBR	MECOM	RPL26	DNAJC30	MCM10	GRIP1	ADARB1	PLD1	GTF2IRD2	PEX14	COL11A1	CCDC22	PSEN1	FAS	RPS24	UROD	TTC7A	PIGO	VPS37D	TAPT1	FANCF	ADA2	NPC1	CCBE1	PEX2	HRAS	RPS19	GBA	BUB1	COL1A2	ALG9	SLC35A2	HLCS	BMPER	RPL31	TRIP13	PIGA	PSAT1	DPYSL5	RPS29	IFT80	NEK1	TSR2	DYNC2H1	LIG4	EIF5A	WNT3	CLIP2	CBL	WNT7A	AGGF1	GTF2IRD1	RMRP	RNU4ATAC	EPB41	PTPN11
HP_ABNORMAL_FETAL_PHYSIOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FETAL_PHYSIOLOGY	PIGG	LMOD3	NDUFB3	NDUFA1	TPM2	MYO9A	AGRN	BIN1	HDAC8	NDUFB9	PLOD1	NDUFAF5	TBCK	NDN	RIPK4	SNAP25	PREPL	NDUFV1	SNRPN	ABCC6	CTCF	HSPG2	FOXRED1	CTBP1	SCN3A	MT-ND3	CNTNAP1	ACTA1	RYR1	CAMKMT	PEX19	NTRK2	TOR1A	NELFA	CHRNE	MPZ	NUP188	SZT2	KBTBD13	SYT2	TTC26	ATP8B1	SLC25A1	NEB	LETM1	SLC16A2	RAPSN	IGHMBP2	ZMPSTE24	NUS1	NDUFS6	MYF6	GABRA2	CHRNG	EBF3	TRIP4	MYCN	NSD2	SCN8A	GMPPB	NDUFAF1	LMNA	TPM3	DNM2	NEXMIF	BICD2	MTMR14	NDUFAF2	NDUFAF8	PAX7	PTRH2	MYL1	SMN1	COL6A1	ATP1A3	NDUFAF3	CDK19	SLC6A9	YWHAG	COL6A3	DPAGT1	NDUFS1	SMC3	MT-ND2	GLE1	TSFM	PHGDH	ARV1	MTM1	ITGA7	KIF5C	SLC25A26	OSTM1	NDUFS8	CPLX1	CHAT	CRPPA	NALCN	ATP1A2	CACNA1A	CHRND	KCNB1	HCN1	SLC3A1	CHUK	MYOD1	PIGS	FGFR3	NDUFS2	SYNJ1	IKZF1	MYMK	CNTN1	MKRN3	MYH7	NDUFB10	IL1RN	ATAD3A	GLDN	PSAT1	GPKOW	UBA5	MAGEL2	H19	OCA2	PPM1B	SCYL2	GGPS1	TMEM126B	MYL2	CACNA1B	GNB2	KLHL41	DOK7	MAP3K20	PEX3	MUSK	TIMMDC1	NPAP1	DHCR7	GABRB2	ALDH7A1	COL6A2	TMCO1	GRIN2D	PWAR1	ALG9	SMC1A	ERGIC1	MYH3	WWOX	DMPK	SPEN	SYNGAP1	FGFRL1	RAD21	CCDC174	POLR2A	DNM1L	NDUFS3	NDUFAF4	NIPBL	NDUFB11	CELF2	NECAP1	GBE1	USP7	SLC1A2	VAMP1	EEF1A2	MEGF10	NEK9	KCNA2	AARS1	MYPN	NDUFS4	ASCL1	ERCC5	PPP3CA	NDUFS7	BRD4	SLC5A7	COL12A1	ATP6V1A	ADGRG6	IL2RB	ALG8	SELENON	ACTL6B	TRAK1	RAI1	GABRG2	IGF2	KLHL40	SON	VPS13B	SLC18A3	COL13A1	SYNE1	ENPP1	TRPV4	TRAIP	NFASC	LGI4	CYFIP2	FLII	PLPBP	SLC25A19	SLC13A5	GFPT1	ERBB3	EMC10	UBA1	ASCC1	HERC2	DEAF1	ABCB4	PRUNE1	DNA2	FGF12	DNM1	GABRA5	NUP88	GBA	HACD1	NDUFA11	PWRN1	RET	FXR1	FGF13	SNORD115-1	COX15	IPO8	ZC4H2	CNKSR2	EXOSC9	PARS2	NDUFV2	NDUFA6	B3GLCT	CLTC	DPYSL5	WDR62	RPL11	MT-ND1	DHDDS	ALG14	CHRNA1	ZBTB42	IQSEC2	ODC1	AFF2	SNORD116-1	UNC45B	AP3B2	NUBPL	DALRD3	PHOX2B
HP_MORTALITY_AGING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MORTALITY_AGING	RINT1	MLXIPL	MRM2	NAXE	LHX4	SFTPB	TIMMDC1	VPS35L	ABAT	TSPYL1	TSEN54	MYL2	ETFDH	RNASEH2A	MYH11	GTF2I	OGDH	BOLA3	PEX3	NCF1	HSPG2	KIF20A	ROR2	RARS2	LIMK1	OSTM1	NSF	TYMP	PLEC	EIF4H	TOR1A	GNPTAB	ABCA3	UBR1	PSMB8	COL2A1	QRSL1	LMOD1	TTC26	INTU	COX5A	COASY	ERCC2	PSAP	ALG1	BMPR1B	CENPF	CTSD	SUCLG1	ACTB	GLE1	COX16	IDUA	NDUFB10	MLH1	LMNA	NEB	DNM2	NADSYN1	ESCO2	ALPL	ATG7	MADD	NADK2	VPS33A	MYL1	HMGCL	DPM2	STT3B	TSFM	PHGDH	SLC25A24	TMEM70	MBTPS2	DSP	LAMA3	ERCC1	TPP2	FREM2	APP	SDHD	ACADVL	BCL7B	CRLF1	HYLS1	PEX16	WASHC5	PEX6	LIPA	OCRL	PEX19	FANCB	FGFR3	KARS1	CDON	ERCC6	FAM20C	CNTN1	ITPA	GPR161	SMOC1	PRPS1	PITX1	ATAD3A	PROKR2	HDAC6	RMND1	SLC17A5	SLC25A46	PEX12	EPCAM	POR	SUOX	RNASEH2C	SCYL2	NAXD	AMT	PMS2	MYO5B	ACTG2	NXN	ANTXR2	LAMB3	MUSK	CALCRL	METTL27	RNU4ATAC	TBL2	PIK3CA	LAMC2	NDUFB11	SNRPB	NSDHL	GLDC	WT1	ROBO1	FLNA	FADD	ACTL6B	CST3	GCSH	SCO2	TRIP11	EPG5	GPC3	POLG	AFF3	PEX1	HEXB	PIP5K1C	MRPL3	GAD1	VPS33B	DNM1L	ATP7A	GLI3	PEX11B	MESP2	NFIX	VPS4A	ELN	SCN4A	MLH3	SIK1	NR1H4	TMEM270	FLNB	DOLK	POMT2	TGFBR2	RFC2	LIPT1	FOXF1	EXOC8	PQBP1	GRM7	PEX10	PEX13	PET100	ZMPSTE24	ITGA6	FRAS1	SMARCD2	ASCL1	CLCN3	STAT2	MSH2	BCS1L	PEX5	KRAS	SLC26A2	PEX26	PMS1	FKBP6	PIGB	STX1A	SMPD4	DLL3	NDUFS4	GATC	PLCB3	CDC40	BAZ1B	PTH1R	ETFB	KLHL40	SMO	EMG1	HTRA2	MYLK	ATP5MK	DCX	BUD23	ABCB11	ERCC5	GLB1	NFS1	LBR	REV3L	SLC9A6	DNAJC30	CRTAP	ATP6AP1	BRAT1	CD96	CLCF1	COX8A	FLI1	GTF2IRD2	PEX14	COL11A1	NRAS	KRT5	CCDC22	MTX2	LTC4S	SLC25A19	TFAM	MSH6	VPS37D	ATRX	FXR1	SNAP29	NDUFAF3	GLUL	MRPS22	LAT	PEX2	PKHD1	SLC35D1	COG6	GBA	HESX1	FCHO1	STX3	FKRP	AARS2	RET	ASXL3	RPL3L	ARX	FAN1	SEC31A	PTF1A	GPC4	TMEM260	PIGA	ZNFX1	SATB1	PPIL1	GDF5	TUFM	AIMP1	JPH2	ALG14	SLC25A22	PLXND1	COX10	WDR11	GRIP1	CLIP2	ETFA	NEK8	POLG2	GTF2IRD1	RPS6KA3	ATP1A2	RBM8A	RAB27A	FARS2	CEP55	ACOX1	ITGB4	C2orf69	NDUFA2	PHOX2B	TNFRSF11A
HP_CHROMOSOME_BREAKAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHROMOSOME_BREAKAGE	FMR1	PALB2	SUFU	ERCC4	FANCC	SMARCE1	FANCD2	NF2	BLM	BRIP1	FANCL	FANCI	BAP1	FANCF	TRAF7	TERT	PDGFB	SMO	BRCA2	RNF168	BRCA1	MCM4	COX4I1	SMARCB1	TMEM185A	AKT1	RAD50	FANCE	FANCA	PIK3CA
HP_PROMINENT_COCCYX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROMINENT_COCCYX	COLEC11	COLEC10	TAF1	MASP1	TBX15	SH3PXD2B
HP_FINGER_CLINODACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FINGER_CLINODACTYLY	RERE	OFD1	PRKACB	CITED2	CDC6	BRAT1	SRCAP	RAD51	RB1	XYLT1	BRAF	RRAS	RBM8A	CKAP2L	NKX2-5	RIT1	EVC	GTF2I	FANCC	BCOR	NKX2-6	NCF1	CHSY1	ROR2	MAPK8IP3	KDM1A	PHF21A	EIF4H	HDAC4	FAM149B1	GATA6	RUNX2	TRIO	AMER1	FANCF	SATB2	ERCC4	FANCD2	IGF2	ODC1	CANT1	MAN1B1	GATA4	MYLPF	TWIST1	MYCN	RSPRY1	FGF10	RPL10	HOXD13	BMPR1B	ATG7	CRKL	PAFAH1B1	FANCL	NEK1	HOXA11	SMC3	TBX4	PLAG1	PACS2	BHLHA9	DSP	EFNB1	WIPI2	NUP37	MRAS	BUB1B	WDR4	MAD2L2	SHANK3	FANCA	PPP2R1A	BCL7B	CLCN3	LMBR1	KNSTRN	FGFR2	TCF20	ABL1	SMOC1	TFAP2B	NIPBL	TOPORS	BPTF	TELO2	PRDM16	CHD7	WDR35	PITX1	ALX3	ARID1B	OBSL1	NXN	METTL27	NPR2	LMNB2	CREBBP	PIGN	FLT4	CEP57	FANCB	DVL1	SNRPB	AKT1	MAP1B	FANCI	SMC1A	ATP6V1B2	PKDCC	GPC3	CENPJ	GPC4	FGD1	CCNQ	GDF5	RAD21	LEMD3	TRRAP	ELN	GMNN	RFC2	KRAS	LIG4	PNPLA6	QRICH1	COG8	RBBP8	UBE3B	PRR12	FKBP6	SPRED2	KIAA0753	BRD4	HMGA2	BMP4	RAB18	MACROH2A1	ATR	CSGALNACT1	ZFPM2	RAI1	TGDS	VPS13B	EPB41L1	EMG1	POLA1	GATA5	BUD23	REV3L	RAD51C	FANCE	DNAJC30	SLC2A10	PCNT	RNU4ATAC	KIF7	DLX3	CD96	SIAH1	COL11A1	GDF1	FLII	PIGL	SPOP	VPS37D	ATRX	DEAF1	WNT5A	LMX1B	PIK3CD	L1CAM	TCF4	COG5	CCDC8	TBX1	SMARCA2	BUB1	TRPS1	SALL1	ZNF462	TRIP13	EP300	B3GLCT	DLK1	YWHAE	H19	BRCA2	XRCC2	PLXND1	IHH	RNF216	CDT1	ACVR1	KMT2A	AGO2	PIEZO2	BRCA1	KCNJ11	PQBP1	AMMECR1	KCNJ2	PTPN11	MBD5	KDM6B	ORC1	MLXIPL	HDAC8	ORC4	KDM4B	IFT122	XRCC4	SNRPN	ESCO2	DONSON	NOG	FLNB	MCTP2	TBC1D24	CTCF	RAF1	EIF4A3	AFF2	SPECC1L	C12orf57	CEP152	LIMK1	CNOT2	KCNK4	TFAP2A	KAT6B	PUF60	ALG12	SHH	PRKCZ	CHRNA7	CCDC32	UBE4B	SEMA3E	KDR	EVC2	NEXMIF	USP7	DPAGT1	CDKN1C	CENPE	TP63	NONO	FZD2	PACS1	JAG1	PALB2	KCNAB2	BMP2	FANCG	MECP2	TRAPPC9	PIGS	SOS1	DHPS	MMP23B	NIN	KPTN	MIA3	CUL7	CPLANE1	SHOX	PDPN	MAP3K7	KLF13	FGFR3	NSUN2	SPRED1	GNB2	DACT1	ABCC8	UBR1	MAPK1	STAG2	WDR19	NRAS	SOS2	BUB3	TBL2	YY1AP1	SLC9A7	EXT2	AP1G1	CDC45	MASP1	IFT43	RTL1	RASA2	MAF	FANCM	HSPG2	ALX1	SPEN	TMEM216	MECOM	NUP85	STAG1	TMEM270	BRIP1	ZC4H2	DYM	SOX6	ATRIP	SLX4	CNOT3	STX1A	DVL3	TRPV4	BAZ1B	MEG3	RAB23	CASZ1	ANKRD11	RRAS2	PLK4	CUL4B	HIC1	LZTR1	B3GALT6	BCR	GTF2IRD2	TCTN3	KAT8	PIGH	PDE6D	BLM	UBE2T	HOXA13	UBE3A	LUZP1	LMNA	GJA1	IFT52	TBX15	NAA10	ZNF292	PTEN	JUP	ZMYM2	TRAIP	GJA5	MED12	RFWD3	GABRD	SKI	TBX5	PTH1R	SH3PXD2B	IQSEC2	CLIP2	CBL	GTF2IRD1	OGT	CEP55	IGF1	ORC6
HP_CLINODACTYLY_OF_THE_2ND_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLINODACTYLY_OF_THE_2ND_FINGER	PIK3CD	CHSY1	CSGALNACT1	KNSTRN	MED12
HP_CLINODACTYLY_OF_THE_3RD_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLINODACTYLY_OF_THE_3RD_FINGER	DLK1	PKDCC	RTL1	PIK3CD	MEG3	KNSTRN
HP_CLINODACTYLY_OF_THE_4TH_FINGER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLINODACTYLY_OF_THE_4TH_FINGER	PIK3CD	ABCC8	KCNJ11	SNRPN	KNSTRN
HP_CHORIORETINAL_HYPOPIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHORIORETINAL_HYPOPIGMENTATION	VPS33A	PAX6	MAGEL2	DCT	SIM1	TSC1	TSC2	WT1	SLC25A15
HP_ONYCHOGRYPOSIS_OF_FINGERNAIL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ONYCHOGRYPOSIS_OF_FINGERNAIL	KRT17	COL7A1	DVL1	KRT16	KRT6A	WNT5A	FZD2	KRT6B	DVL3
HP_ABNORMAL_HEMIDIAPHRAGM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEMIDIAPHRAGM_MORPHOLOGY	GNE	GATA6	WT1	NDUFAF5	NR2F2
HP_DECREASED_ADIPOSE_TISSUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_ADIPOSE_TISSUE	CAVIN1	SLC25A24	KCNK9	TGFB3	PPARG	FOS	CAV1	KCNJ6	ERCC8	INSR	LIPE	ERCC4	BSCL2	AGPAT2	ATP6V1E1	SKI	SOX18	IGF1R	LMNA	LMNB2	TGFB1	PSMB8	PTF1A	POLR3A	ZMPSTE24	ERCC3	MPLKIP	SLC2A2	NAA10	FH	GTF2H5	TOP3A	TARS1	GNB2	LEMD2	RNF113A	ERCC6	GTF2E2	BLM	ERCC2	RBM28	PLIN1	CIDEC	FBN1
HP_ABNORMAL_LOWER_LIMB_BONE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LOWER_LIMB_BONE_MORPHOLOGY	IFNGR1	FAM50A	LMNA	OFD1	NTNG2	TBCE	LZTFL1	DDRGK1	EED	B3GALNT2	CCDC28B	DLK1	NDN	XYLT1	MGAT2	SALL4	COL1A2	GPC3	TCIRG1	NKX3-2	LMBR1	FANCC	SNRPN	HSPG2	CHSY1	CEP41	PIEZO2	GABRA1	FBN2	TMEM67	MED27	IFT140	HDAC4	FAM149B1	UNC45A	RUNX2	TGFB1	ZMPSTE24	FANCF	MMP13	KATNB1	ERCC4	TTC26	FANCD2	RBM10	LIFR	BMPR1B	MYLPF	DYNC2H1	B9D1	PRMT7	WDR19	CHRNG	GNAS	RSPRY1	LRP5	SLC39A13	MYCN	AGPS	EVC2	HOXD13	DMP1	GORAB	EMC10	CRKL	TREX1	FGFR2	TG	ATP7A	SC5D	DDX59	SMC3	TBX4	TNNI2	SEMA3E	CHST3	PTPN23	BHLHA9	TRIP12	GMNN	CLCN5	B4GALT7	PHYH	FKBP10	MEG3	SMARCAL1	GLI3	CPLX1	RMRP	MAD2L2	FANCA	COG4	SKI	SCN2A	SMC1A	TONSL	WNT7A	CHEK2	DYNC2LI1	FBXW11	WDFY3	DDX6	PIK3C2A	ALMS1	GJA1	SMOC1	ECEL1	DYNC2I1	TCF20	CD96	FLNA	PSAT1	FUCA1	MAGEL2	KCNA1	PDE4D	HDAC6	SCYL2	RTL1	TELO2	GLB1	CSPP1	PLOD2	GABRD	BCORL1	RLIM	RNU4ATAC	KCNN3	NPAP1	GALNT2	DHCR7	CREBBP	TRIP11	ALOXE3	RPS6KA3	DYRK1A	MYT1L	PRG4	FIG4	RPL13	OCA2	ERGIC1	ADAT3	SCN1A	ENPP1	PIK3CD	KAT6B	RAD21	PLAA	GALNS	HPGD	COL2A1	WNK1	VPS13B	TENT5A	TBX1	COL9A1	MAN2B1	KCNH1	NGLY1	SYT1	INPP5E	COG8	FGFR3	KMT2E	HOXA13	ERCC5	GDF5	MEGF8	UBE3B	MGP	CEP104	BRD4	TSHR	GDF6	PIGL	HPDL	SLC26A2	SRP54	DOCK6	PEX5	TNNT3	OTUD5	CSGALNACT1	RETREG1	TGDS	EPB41L1	FBN1	EMG1	HCN1	CDKL5	ANAPC1	GTF2E2	FANCE	MSL3	GRIP1	SLC2A10	SCN9A	CIBAR1	TCF7L2	PNKP	PUS7	HDAC8	FLI1	SIL1	SYNCRIP	CLTCL1	SCN1B	SOX9	POC1A	TRPV4	NOG	GUSB	MATN3	CRPPA	EP300	SATB2	TAPT1	AGO2	IGF1R	FGFR1	TMEM107	TCF4	PHF6	CCDC8	MKS1	DNAJC21	EIF2AK3	SALL1	SNORD115-1	DLL4	POMT2	TMEM138	LMX1B	SPTBN1	SETD5	GPX4	MMP14	IFIH1	PDE6D	COL1A1	ORC6	XRCC2	LIG4	GABBR2	KAT8	NUP88	GLA	ACVR1	SETD1A	MET	AFF4	COX4I1	FBLN1	RECQL4	BRCA1	SVBP	LRP4	MECP2	KCNJ2	TCTN2	TNFRSF11A	CANT1	ORC1	PIGG	EFL1	RINT1	ORC4	KDM4B	FLNB	COMP	DONSON	TSHB	ASAH1	MYH3	CTCF	CTBP1	PCDH19	C12orf57	HSPA9	NUP188	LAS1L	PRKAR1A	CEP120	TBX22	ZMIZ1	FGD1	PRKCZ	CENPE	EXT1	CPLANE1	TMEM237	NALCN	MAFB	CYP27A1	KNSTRN	SHOX	CERT1	ABCC9	TNRC6B	LARGE1	ALPL	MMP9	CUL4B	VDR	UFD1	CC2D2A	CCBE1	EXOC7	EN1	GHR	ADAMTSL1	BPNT2	FKTN	LHX4	RPGRIP1L	TFAP2B	HIRA	TRAPPC2	CEP290	PALB2	KCNAB2	INPPL1	IHH	ARL6	PIGQ	SF3B4	COG1	HYLS1	FANCG	PIGS	ACTL6A	FN1	BMP2	UBR7	ARX	PITX1	SMO	SETBP1	PDPN	MAP3K7	GJB2	ALG12	NOTCH1	NSUN2	RAB23	DUOXA2	COL3A1	MAPK1	ADA	LEMD3	MUSK	SEC24C	TRPV6	CDC45	MASP1	TMEM231	HS2ST1	ANKRD17	B9D2	AFF3	POR	SRCAP	SLC35D1	TMEM216	ATP6AP2	SATB1	NIPBL	DCLRE1C	SPEN	KIAA0586	ZNF423	USP7	PTH1R	DYM	RB1	GPC6	KATNIP	SLX4	FKRP	PCYT1A	DVL3	HBA2	PIK3CA	CHD7	KIF7	FMR1	TP53	RNF2	TCTN3	POMGNT1	EBP	NOTCH2	MIR140	INPP5K	TRAF3IP1	LBR	UBE2A	TXNDC15	IDUA	MYBPC1	CRTAP	ARID1B	PRKG2	ATP6V0A2	ROR2	PLEKHM1	DUOX2	KCNJ8	HERC2	UBE2T	HESX1	SUFU	HEPHL1	ARL3	SLC35A2	MBD5	WASF1	PTEN	RELN	NFIX	GPC4	ZMYM2	RFWD3	SON	B3GLCT	SLC5A5	NEK1	RREB1	EXTL3	SH3PXD2B	GJB6	RBM8A	GBA	RET	WNT10B	ADAMTSL2	SPART	WDR81	SMAD4	TGFB3	IL7R	COMT	EXOC6B	PRKACB	CDC6	TRMT1	EOGT	HOXD10	RAD51	RAG2	KANSL1	ARSL	DOCK3	MAPK8IP3	DAG1	FBXO11	ANKH	SUCLG1	TOR1A	NELFA	AMER1	AHI1	INTU	RAG1	MMP2	SERPINF1	LETM1	GNPTG	PTPN22	COL11A2	FIBP	EXT2	DDR2	SLC29A3	OBSL1	ACTL6B	RASA1	MADD	FANCL	DPYSL5	GNAO1	GLE1	ADGRV1	PHGDH	CHD4	SLC12A2	SBDS	ARHGAP31	EFNB1	ABCA12	COL10A1	KCNMA1	SLC10A7	NTNG1	MTX2	ZEB2	SLC35C1	GABRG2	KIF1A	CHUK	PPM1D	COL4A1	IYD	MKRN3	BPTF	COL9A3	WDR26	POMGNT2	NEPRO	TOPORS	MED25	CCN6	PIGV	PRDM16	PIGN	NXN	POU1F1	LMNB2	IFT52	NSD2	FANCB	CCDC32	FAT4	DVL1	TBL1XR1	AKT1	ARL6IP6	FANCI	HBA1	ATP6V1B2	TPM2	PIGF	KIAA0825	CAMK2G	RERE	IFT172	PSAP	TMEM251	TRRAP	ASXL1	USP9X	RAB3GAP2	LTBP3	PTPN2	MYH8	PRR12	KIF22	KIAA0753	SMPD4	GRIA4	ATR	IFT80	PHEX	CYP2R1	SIK1	RAD51C	POMK	TCTN1	ATRX	GRM7	PCNT	EVC	DMXL2	BMPR1A	DNMT3A	COL11A1	PPIB	PAPPA2	SLC34A3	CDT1	SMARCA2	CASK	PLOD3	WNT5A	MKKS	PEX1	ADAMTS2	ANKRD55	DHCR24	IL2RA	TRPS1	ARL13B	CFAP410	PAPSS2	CNOT3	ERCC1	NF1	IL2RB	BRCA2	NEK8	KMT2A	GP1BB	SNORD116-1	BMP4	AEBP1	NDE1	AMMECR1	WDR35	FGF9	SRY	VPS35L	NEUROD2	ESCO2	TBC1D24	APC	EIF4A3	PSMD12	MED13	CTSK	C2CD3	SPECC1L	HADHA	CLCN3	RXYLT1	VAC14	PUF60	BGN	PROP1	ALOX12B	BBS2	SHH	POP1	HADHB	PIBF1	RBPJ	SGMS2	UBE4B	ARCN1	WRN	ARVCF	ACAN	KIF14	GLI1	CDH11	KAT6A	HUWE1	TMEM38B	BBS1	TBXAS1	TANC2	COL9A2	POMT1	TBX3	KIF5C	FZD2	POLR1A	CLCN7	LHX3	BCAS3	TBX15	SAMD9	PALS1	NANS	B3GALT6	NPR2	CD247	ERCC6	TUBB3	CTC1	MMP23B	POLR3A	MIA3	ZNF407	STXBP1	BBS9	DACT1	RPGRIP1	PORCN	PWAR1	NPHP3	MAF	FANCM	TRIM8	DCHS1	FGFRL1	CUL7	UFSP2	ADAMTS10	HTT	CYP27B1	TTC21B	FBXL4	RIPK4	CCDC47	IL2RG	BRIP1	PTHLH	P3H1	AIFM1	DYNC2I2	ZSWIM6	SUMF1	CBY1	B3GAT3	KDM5C	ACTB	ZBTB20	SIM1	RAB33B	IFT74	SCARF2	DOK7	TWIST1	ERCC2	PEX7	CASZ1	CHST11	KDELR2	LMBRD2	HINT1	GATA4	JMJD1C	IFT122	SHROOM4	BCR	ARMC9	GFM2	KCNJ5	PPP2R3C	LUZP1	TPO	PWRN1	B4GAT1	IPO8	EZH2	STX1B	DLX5	STAT4	LEMD2	TP63	PIGP	PEX2	TRAPPC4	SLC25A22	ZC4H2	JARID2
HP_ABNORMAL_UPPER_LIMB_BONE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_UPPER_LIMB_BONE_MORPHOLOGY	NTNG2	EXOC6B	COLEC10	ZMIZ1	EED	TRMT1	COL2A1	RAD51	XYLT1	SALL4	RRAS	GPC3	MMP9	RBM8A	AGA	RIT1	GTF2I	SUMF1	LMBR1	FANCC	BCOR	EZH2	NCF1	CHSY1	ROR2	DOCK3	PIEZO2	SUCLG1	MED27	EIF4H	HDAC4	FAM149B1	RUNX2	TGFB1	ZMPSTE24	TRIO	FANCF	MMP13	SATB2	ERCC4	TTC26	GPC4	FANCD2	MMP2	RBM10	PEX5	BMPR1B	PTPN22	CANT1	FZD2	COL11A2	MYLPF	DYNC2H1	WDR19	CTSK	TWIST1	FANCB	ZIC3	EXT2	CHRNG	RAD51C	GNAS	RSPRY1	FGF10	PEX7	DDR2	AGPS	PTEN	HOXD13	ACTL6B	CHD7	ESCO2	EMC10	COLEC11	FANCL	LMNA	COL5A2	DPYSL5	SNRPN	PTCH2	DVL3	NEK1	HPGD	SLC26A2	LRP4	HOXA11	SMC3	COL9A3	SEMA3E	CHST3	PTPN23	TRIP12	DHODH	B4GALT7	FGF16	RECQL4	ARHGAP31	FKBP10	GLI3	GJB6	MAPK8IP3	MRAS	COL10A1	KCNMA1	MAD2L2	MTX2	FANCA	BCL7B	CYP26B1	COG4	SKI	KIF1A	CLCN3	WNT7A	KNSTRN	FBXW11	WDFY3	FGFR2	ACAN	BPTF	SMOC1	TCF20	NIPBL	CD96	FLNA	NEPRO	FLNB	TOPORS	IFT81	MED12	POR	PDE4D	TONSL	IFITM5	PITX1	JAG1	CSPP1	ARID1B	MEIS2	OBSL1	BCORL1	NXN	RLIM	NHS	METTL27	RNU4ATAC	IFT52	NSD2	CREBBP	GDF5	RPS6KA3	FGFR1	CCDC32	FAT4	SNRPB	AKT1	MAGEL2	FANCI	SLC25A24	MYT1L	PRMT7	SMC1A	PRG4	FIG4	ATP7A	TRIP11	NDN	CCNQ	TPM2	ASXL1	FBXL3	NOG	PIK3CD	LONP1	KAT6B	RAD21	EXTL3	GALNS	PRKD1	TMEM251	SMARCA2	ELN	WNK1	VPS13B	FERMT1	SIL1	SPARC	SLC12A2	RAB3GAP2	COL9A1	KCNH1	RFC2	KRAS	LBR	ZNF141	OFD1	FGF23	UBR7	KMT2E	LIG4	LTBP3	BMP1	MEGF8	PTPN2	KIF22	COL1A1	BICRA	FKBP6	SPRED2	KIAA0753	BRD4	GRIA4	KL	HPDL	MACROH2A1	ATR	DOCK6	SNIP1	RPS19	IFT80	FBN1	TRPV4	BUD23	ANAPC1	PDE3A	NONO	REV3L	FANCE	DNAJC30	ABCC9	TCF7L2	PUS7	FGFR3	BMPR1A	CDKL5	TMEM67	SIAH1	TWIST2	SYNCRIP	RETREG1	VPS37D	POC1A	MAF	MATN3	DVL1	RNF13	EP300	TAPT1	PTCH1	AGO2	MKKS	LMX1B	SALL1	SMO	PTDSS1	MASP1	HHAT	CCDC8	ANKRD55	PIGT	IL2RA	RNF2	TFE3	TRPS1	DLL4	NTNG1	GJA5	DYM	SPTBN1	SETD5	PSMD12	CNOT3	B2M	DLK1	MYSM1	GPX4	ERCC1	ZIC1	MMP14	IFIH1	IL2RB	BRCA2	MSX2	XRCC2	PLXND1	IHH	CPLANE1	STX16	KAT8	SETD1A	OTUD6B	WNT5A	AFF4	FBLN1	PHYH	BRCA1	PQBP1	TNNT3	ACVR1	SVBP	AMMECR1	PYCR2	EXOSC2	KCNJ2	PTPN11	GATAD2B	RSPO2	FGF9	EOGT	MLXIPL	SUFU	SRY	DONSON	HDAC8	VPS35L	COMP	RIPK4	KDM4B	INPPL1	APC	RAF1	EIF4A3	CTBP1	MED13	LIMK1	GLB1	PRKAR1A	GNPTAB	VAC14	TBX22	SLX4	BGN	EXT1	TBX3	NALCN	MAFB	BMP2	SHOX	TNRC6B	SUZ12	RMRP	TANC2	BRAF	BPNT2	COL9A2	INTU	PACS1	USP9X	DDX6	LRP5	BCAS3	PALB2	TBX15	GNPAT	MADD	SAMD9	SF3B4	PALS1	B3GALT6	NPR2	FANCG	PIGS	CD247	SOS1	ACTL6A	NPR3	COL11A1	GPC6	POLR3A	IFT43	SLC39A13	GUSB	PTH1R	SETBP1	CLCN7	MAP3K7	ALG12	NOTCH1	GSC	NSUN2	MYH3	RAB23	DACT1	COL3A1	PDGFRB	NRAS	GNAS-AS1	SOS2	PORCN	COL27A1	TBL2	RPL26	SHH	CHN1	HS2ST1	ANKRD17	GJA8	RTL1	RASA2	RFWD3	FANCM	AFF3	SRCAP	ADNP	DHCR7	DCHS1	CPLX1	FGFRL1	CUL7	SCN9A	TNNI2	TMEM216	MECOM	ADAMTS10	G6PC3	SATB1	NFIX	KIAA0586	MAP2K1	TMEM270	BRIP1	PTHLH	P3H1	HTT	ASAH1	B3GAT3	BHLHA9	CTSC	STX1A	RAB33B	SCARF2	PCYT1A	KIF7	BAZ1B	MEG3	PUF60	DNMT3A	NOTCH2	INPP5K	RRAS2	LMBRD2	PRKG2	GATA4	LZTR1	IFT122	ATL3	GTF2IRD2	TCTN3	TCF12	PDE6D	UBE2T	LETM1	HOXA13	BANF1	WASF1	MAP2K2	COL5A1	HFE	ALX4	NSD1	TBX5	STAT4	HUWE1	B3GLCT	SH3PXD2B	TP63	PCNT	CLIP2	CBL	RBPJ	TRAPPC4	GTF2IRD1	CWC27	JARID2	ADAMTSL2
HP_ABNORMAL_FOREARM_BONE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FOREARM_BONE_MORPHOLOGY	TRIP11	RFWD3	FANCM	CCNQ	POR	EXOC6B	CUL7	VPS35L	RAD51	RIPK4	SALL4	FLNB	FGFR2	ESCO2	DONSON	COL2A1	FANCC	BRIP1	APC	DHODH	RAB3GAP2	EIF4A3	P3H1	FGF23	FANCF	MMP13	ERCC4	CHST3	SLX4	FANCD2	RBM10	BMPR1B	FLNA	EXT1	DYNC2H1	SCARF2	SLC26A2	ATR	FANCI	EXT2	RAD51C	FGF10	RPS19	TRPV4	SHOX	CHD7	FANCB	FGFR3	FANCL	FANCE	PRKG2	LRP4	GLI3	HOXA11	SEMA3E	TBX3	TMEM67	RECQL4	PALB2	UBE2T	IHH	SAMD9	MAD2L2	TAPT1	FANCA	LMX1B	B3GALT6	NPR2	FANCG	GDF5	WNT7A	CCDC8	PIGT	COL11A1	IFT43	NIPBL	IFT81	ALG12	SF3B4	B2M	JAG1	TBX5	OBSL1	BRCA2	XRCC2	PCNT	RPL26	PRKAR1A	AFF4	BRCA1	MAFB	CHN1	PDE4D
HP_HYPOPITUITARISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPITUITARISM	TP53	EFL1	GAS1	PTCH1	POMC	GH1	SHH	NDN	KANSL1	SNRPN	LEPR	AIP	TSHB	HBB	CDON	SIX3	TGIF1	CTSK	STAG2	PROP1	TRAPPC11	TACR3	TMEM67	DCAF17	YY1	GHSR	FSHB	SOX3	PRKAR1A	BAP1	PREPL	MT-TL1	SMARCE1	NODAL	NF2	NDNF	ZNF148	FANCI	FOXH1	IGF2	DLL1	RRAS2	NFKB2	FEZF1	FGF8	BRCC3	SEMA3E	FGFR1	ZIC2	SLC29A3	TRAF7	CHD7	FOXA2	GLI2	SMO	GPR101	EIF2S3	RRM2B	ARNT2	MARS2	AAAS	HESX1	AKT1	TDGF1	ADNP	ZSWIM6	TBCK	GMNN	LHX4	LHX3	SRD5A3	MT-ATP8	SEMA3A	CTNNB1	LEP	WDR4	GNAS	STIL	HS6ST1	TP63	TBCE	SMC1A	TBX19	SMARCB1	KIAA0753	ALMS1	ADAT3	MKRN3	OTX2	PITX2	FLNB	SUFU	IL17RD	DUSP6	MAGEL2	OCA2	FLRT3	PCSK1	GNB2	ANOS1	ALX3	APOA5	SBDS	POU1F1	DISP1	DNAJC21	POU3F4	TERT	KATNIP	NPAP1	PDGFB	SOX10	TMCO1	PWAR1	NKX2-1	PIK3CA	RFWD3	GHRHR	DCC	GLI3	ESCO2	CDKN1C	DYRK1A	VPS13B	POLE	PNPLA6	FGF17	IARS2	GRM7	KMT2A	PROKR2	CDH23	RNPC3	BMP4	SRP54	EDA	IGSF1	FARSA	CCDC141	PDE4D	SIN3A	KISS1R	MPDU1	MADD	GMPPA	TRHR	HERC2	BRAF	FANCF	BTK	PWRN1	SNORD115-1	POLR3A	B3GLCT	MEN1	PROK2	STAT5B	THOC2	SPRY4	TBX2	RBM28	STX16	SLC7A7	CEP57	SNORD116-1	AFF4	WASHC5	EDA2R	ACP5	POLR3GL	WDR11
HP_AXONAL_DEGENERATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AXONAL_DEGENERATION	ABCD1	SH3TC2	LMNA	IGHMBP2	SERPING1	TXN2	SETX	CYP27A1	LAMA2	APTX	FLVCR1	GJB1	SLC25A21	LRSAM1	TRIM2	TFG	DNM2	SEPTIN9	GDAP1	TTC19	CTDP1	NAGA
HP_IRREGULAR_DENTITION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRREGULAR_DENTITION	FAT4	RIN2	DCHS1	TMEM231	NFIX	NMNAT1
HP_ANTEVERTED_EARS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANTEVERTED_EARS	PBX1	FGF3	TTI2	CACNA1G	KANSL1	BCOR	HMGB3	KAT6A	RPL10	SYNGAP1
HP_HAPPY_DEMEANOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HAPPY_DEMEANOR	ATP10A	WDR26	TCF4	OCA2	DYRK1A	GRIK2	UBE3A	ZEB2	ASXL1	HDAC8	ZSWIM6	SNRPN	SATB2	RAB11B	TBC1D23	SLC9A6	ADSL	TASP1
HP_ABNORMAL_CIRCULATING_RENIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_RENIN	CYP11B2	HSD11B2	SCNN1B	NR3C2	CYP11A1	CYP17A1	MAGED2	SCNN1A	KCNJ5	KCNJ1	CASR	SLC12A1	HSD3B2	CACNA1D	CYP11B1	SCNN1G	CLCNKB	INSR	SLC12A3	AVPR2	KCNJ16	KCNJ10	BSND	CLCN2	CLCNKA
HP_ABNORMAL_CIRCULATING_ALDOSTERONE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_ALDOSTERONE	CDKN2B	SCNN1B	CDKN1B	CDKN2C	CDKN1A	SCNN1A	SCNN1G	MEN1
HP_ABNORMAL_PROLACTIN_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PROLACTIN_LEVEL	PROP1	SUFU	GLI2	LHX4	SMARCE1	LHX3	NF2	POU1F1	TRHR	HESX1	BAP1	IGSF1	GNAS	TRAF7	TERT	RBM28	SOX3	FOXA2	PDGFB	SMO	SMARCB1	AKT1	OTX2	GLI3	PIK3CA
HP_ABNORMAL_BLOOD_FOLATE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_FOLATE_CONCENTRATION	OTUD5	HLA-DQA1	ZNF699	FTCD	HLA-DQB1
HP_NEOPLASM_OF_THE_INNER_EAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_INNER_EAR	SPRED1	NF2	KARS1	VHL	HRAS
HP_BILATERAL_EXTERNAL_EAR_DEFORMITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_EXTERNAL_EAR_DEFORMITY	DSP	SLC26A2	JUP	FIG4	VAC14	ERLIN2
HP_ABNORMALITY_OF_THE_EUSTACHIAN_TUBE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_EUSTACHIAN_TUBE	TP63	MSX1	IRF6	NECTIN1	WDR26
HP_ABNORMAL_VITAMIN_B12_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_VITAMIN_B12_LEVEL	FASLG	PRDX1	MTR	ABCD1	HLA-DQA1	FAS	ABCD4	SLC19A1	AMN	MMAA	RNF13	PRKCD	CUBN	CASP10	LMBRD1	RASGRP1	MMAB	GRM7	MMADHC	MMACHC	MTRR	GUCY2C	MTHFD1	HLA-DQB1
HP_ABNORMAL_SWEAT_HOMEOSTASIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SWEAT_HOMEOSTASIS	TGFB1	CFTR	FUCA1	SCNN1B	SCNN1A	FCGR2A
HP_ABNORMAL_NERVE_CONDUCTION_VELOCITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NERVE_CONDUCTION_VELOCITY	GDAP1	AIFM1	TPI1	NOTCH2NLC	LITAF	RAI1	SCN9A	NALCN	SPTLC1	PRX	FBXO38	PMP22	WNK1	LMNA	FXN	FLVCR1	SAMD9L	PLA2G6	PNPT1	MTMR2	ERCC3	PRPS1	VCP	ARSA	PSAP	ATXN1	MPZ	LTBP3	LIG3	NEFL	SBF1	HSD17B4	MORC2	SACS	CHCHD10	SLC25A15	IGHMBP2	FBLN5	IDUA	GALC	CCT5	CYP27A1	REEP1	LAMA2	ERCC6	MTRFR	RRM2B	DNM2	UQCRC1	NEU1	LRSAM1	FAM126A	HPDL	TBC1D20	ARHGEF10	MYH14	PDK3	PTRH2	HSPB1	SLC12A6	CTDP1	SBF2	PLP1	EGR2	NFASC	MFN2	NGLY1	JPH1	MFF	HK1	SH3TC2	POLG	SORD	RETREG1	SPTLC2	ERCC8	PLEKHG5	FBN1	DCAF8	ATXN10	MED25	GFM2	MATR3	SUCLA2	AARS1	KIF1A	LYST	KIF1B	ABHD12	NDRG1	BSCL2	GJC2	FIG4	GJB1	SIGMAR1	SETX	PNKP	PEX6	DEGS1	RAB7A	TYMP	SOX10	FGD4	GARS1	DHX16	DYNC1H1
HP_ABNORMAL_SERUM_IRON_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SERUM_IRON_CONCENTRATION	CP	HJV	PKLR	COL7A1	BMP2	CARD9	BCS1L	TTC37	KIF23	TRNT1	HFE	STEAP3	PIGA	HAMP	FOXP1	SKIV2L	TFR2
HP_ABNORMAL_MOTOR_NERVE_CONDUCTION_VELOCITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MOTOR_NERVE_CONDUCTION_VELOCITY	JPH1	NOTCH2NLC	HK1	LITAF	SH3TC2	POLG	LMNA	NALCN	EGR2	SPTLC1	SORD	PRX	SPTLC2	PLEKHG5	DCAF8	FBXO38	PMP22	NEFL	MED25	MPZ	FXN	AARS1	MFN2	MTMR2	KIF1B	ATXN1	CCT5	GDAP1	NDRG1	BSCL2	LIG3	GJC2	FIG4	MORC2	SACS	SIGMAR1	SETX	PNKP	DEGS1	RAB7A	REEP1	TYMP	RRM2B	UQCRC1	GJB1	PRPS1	LRSAM1	FAM126A	HPDL	TBC1D20	PTRH2	HSPB1	SLC12A6	FGD4	GARS1	CTDP1	SBF2	DYNC1H1
HP_ABNORMAL_SENSORY_NERVE_CONDUCTION_VELOCITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SENSORY_NERVE_CONDUCTION_VELOCITY	TYMP	MTRFR	RRM2B	FLVCR1	SACS	CHCHD10	KIF1A	FXN	MFN2	NOTCH2NLC	POLG	HPDL	SCN9A	PMP22	SPTLC1	RETREG1	ATXN1	PTRH2	SLC12A6	LIG3	WNK1	NGLY1
HP_ABNORMAL_CIRCULATING_FERRITIN_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_FERRITIN_CONCENTRATION	STX11	PKLR	BMP2	ITK	SLC19A1	IFNG	SLC4A1	HBB	CP	STXBP2	XIAP	HAVCR2	LYST	SLC40A1	CPOX	HAMP	PIEZO1	STAT2	NLRC4	BCS1L	SLC7A7	TTC26	HJV	KCNN4	HFE	GLRX5	UNC13D	SLC30A10	GFER	FTH1	STEAP3	HMOX1	FTL	PRF1	MCM10	PUS1	SLC25A38	TFR2
HP_ABNORMAL_HEPATIC_IRON_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_HEPATIC_IRON_CONCENTRATION	CP	STEAP3	GLRX5	PIGA	HBB	BCS1L
HP_ABNORMAL_TRANSFERRIN_SATURATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TRANSFERRIN_SATURATION	PKLR	HFE	HJV	STEAP3	HAMP	SLC40A1	SLC30A10	TFR2	BCS1L
HP_DEGENERATION_OF_THE_STRIATUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEGENERATION_OF_THE_STRIATUM	SLC2A3	RNASEH2B	ATXN3	RNASEH2A	HTT	TREX1	PDE8B	RNASEH2C	ADAR	IFIH1	SAMHD1
HP_CORTICAL_MYOCLONUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORTICAL_MYOCLONUS	PGM3	RAPGEF2	CASR	GNA11	TNRC6A
HP_ACNE_INVERSA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACNE_INVERSA	PSEN1	NCSTN	PSENEN	GJB2	KRT5	IKBKB	MEFV	GJB6	POGLUT1	HYOU1	POFUT1	KDF1
HP_ELEVATED_URINARY_CARBOXYLIC_ACID	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_URINARY_CARBOXYLIC_ACID	UROC1	HPD	OXCT1	TAT	UROS	KIF1B	CPOX	ACADM	MVK	GATA1	HGD	ALDH5A1	RET	HMBS	NDUFB10	ALAD	PPOX
HP_GENERALIZED_OSTEOPOROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GENERALIZED_OSTEOPOROSIS	TENT5A	ZBTB20	GCM2	COL1A2	CBS	STAT1	CCN6	COL2A1	SP7	LMNA	MEN1	CDC73	MMP14	COL1A1	B3GAT3	CHST3
HP_LOCALIZED_OSTEOPOROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOCALIZED_OSTEOPOROSIS	FSHR	SOX3	POLR3H	FOXA2	NR5A1	BMP15	PSMC3IP	GLI2	TRAPPC2	LHX4	MRPS22	BNC1	SPIDR	NUP107	PROP1	POU1F1	HESX1	RUNX2	OTX2	HTRA1
HP_ORTHOKERATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORTHOKERATOSIS	DSG1	LORICRIN	CYP4F22	AAGAB	LIPN	NIPAL4	CLDN1	CARD14	FLG2	KDF1	CSTA	WNT10A	COL14A1
HP_ABNORMAL_PELVIS_BONE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PELVIS_BONE_MORPHOLOGY	BGN	POR	EXT1	COL11A2	ERCC8	EXT2	IDUA	FGFR2	B3GLCT	TRPV4	RSPRY1	LEMD3	ERCC6	PCNT	PTH1R	TRIP11	MBTPS2	DYM	BMPER	FIG4	ATP7A	VAC14
HP_ABNORMALITY_OF_THE_PERIOSTEUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PERIOSTEUM	SLCO2A1	GALNT3	FGFR2	COL1A1	IL1RN	KL
HP_ABNORMALITY_OF_HAIR_GROWTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_HAIR_GROWTH	IFT122	EDARADD	GJA1	KRT74	KRT81	KRT25	RNF113A	KRT83	BRAF	SHOC2	PPP1CB	GJB6	LIPH	KRT86	DSG4	LPAR6	ADAM17	MAP2K1	TP63	KRAS	TRPS1	EGFR	CST6	CDSN	RPL21	KRT71	EDAR	GTF2E2	MAP2K2
HP_ABNORMALITY_OF_THE_TONGUE_MUSCLE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_TONGUE_MUSCLE	POMT2	POMT1	FKRP	LARGE1	GMPPB
HP_MACROTHROMBOCYTOPENIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MACROTHROMBOCYTOPENIA	GATA1	GP9	ITGA2B	TUBB1	PRKACG	GP1BA	GP1BB	SLC35A1
HP_OSTEOCHONDROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OSTEOCHONDROSIS	ORC1	ACTB	ACTG1	SMAD3	LMX1B	KRAS	ACAN	DYRK1A	FGFR1
HP_SCALING_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCALING_SKIN	KRT10	OSMR	SAMHD1	MPDU1	KRT74	TGM1	GJA1	CHST8	GJB2	TGM5	KRT1	ZMPSTE24	CDSN	LMNA	GNB2	CAST	CSTA	IL2RA	PKP1	LORICRIN	ELOVL4	ADAM17	PPP2R3C	EGFR	SULT2B1	RASA1	EBP	CARD14	RNF168	CASP14	LDHA	MBTPS2	NIPAL4	IL7R	DCAF17	GJB6	KIT	LRBA	CARMIL2	KIF11
HP_INCREASED_HEAD_CIRCUMFERENCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_HEAD_CIRCUMFERENCE	RERE	FAM111A	SMAD4	CHD3	NTNG2	ZMIZ1	BIN1	EED	B3GALNT2	CLIC2	FGFR1	TRMT1	TBCK	CCDC28B	CLCN4	BRAF	MGAT2	KANSL1	GPC3	ABCC9	SHH	FAR1	TCIRG1	FGFR3	NKX3-2	CEP120	PEX3	EZH2	TGIF1	ROR2	DOCK3	DAG1	ANKH	KDM1A	DOCK6	CDH2	SOS1	PHF21A	MED27	HDAC4	PAK1	PIGW	RUNX2	AMER1	SATB2	SYN1	GPC4	LAMB1	COL2A1	LRP2	IGF2	ODC1	FH	DLK1	MAN1B1	FIBP	ZMPSTE24	SRCAP	MYF6	CDON	FOXH1	MLC1	FGF8	PTEN	OBSL1	ACTL6B	PEX14	BICD2	EDN1	STRADA	SLC29A3	EMC10	ACADVL	SHPK	ADK	SLC26A2	LMNA	DPYSL5	TBX6	MITF	PTCH2	DVL3	TDGF1	CHD1	PLAG1	GNAQ	CHD4	PTPN23	RAC1	KDM5C	TRIP12	SDHD	AKT3	DICER1	SNX14	B4GALT7	NLRP3	GLI3	CRPPA	MAPK8IP3	SDHC	KCNMA1	TWIST1	SHANK3	ARHGEF6	STIL	GCDH	GALC	CLCN3	PEX6	TCF12	RIT1	IQSEC2	TONSL	SIX3	SPTBN1	ASPA	HRAS	COL4A1	PEX1	FBXW11	WDFY3	L2HGDH	ACAN	TCF20	BPTF	GJA1	DYNC2I1	TBC1D7	MED12	D2HGDH	POMGNT2	PTCH1	PEX12	IFT81	ZIC2	TMEM94	HDAC6	ZNF711	APC2	PITX1	IFT43	ZSWIM6	MTOR	PIGN	BCORL1	NXN	DISP1	RLIM	ZDHHC9	SLC2A1	SUFU	AKT1	TRIP11	PPP1R12A	TMCO1	CCDC32	DVL1	USP9X	FIG4	PEX11B	MYT1L	PEX16	USF3	PKDCC	EIF2B1	ANKRD17	DNMT3A	EIF2B4	IDS	HEXB	ACADM	DNM2	CHD8	ADGRG1	CAMK2G	PIK3R2	PLG	PIK3CA	TNFRSF11B	SLC12A2	MAN2B1	PEX13	DNMT3B	LBR	INPPL1	UBR7	KMT2E	EIF2B5	DLG3	SIM1	FGFR2	MYH8	RIPPLY2	RAB39B	PEX26	BICRA	TNRC6B	GRIA4	HMGA2	KCNJ1	NSD1	HPDL	MACROH2A1	PGAP2	HELLS	OTUD5	CSGALNACT1	LRP5	FOXP1	ETFB	SON	GAS1	FRMPD4	ITCH	KLLN	NONO	POMK	ANK3	SLC2A10	TCF7L2	KIF7	DLL3	PUS7	B4GALT1	DLL1	MEG3	BMPR1A	FLI1	TNFRSF11A	SNX10	RPGRIP1L	IGBP1	NODAL	SYNCRIP	CCND2	AGTR2	SOX9	POC1A	THRA	WNT5A	NF1	PPP1CB	AGO2	PTDSS1	PHF6	CRADD	PIGT	DHCR24	GNAI3	RNF2	TFE3	SMARCB1	POMT2	WDR81	NTNG1	NFIA	ANTXR2	ARSB	CNOT3	UBE2A	USP27X	H19	DYNC2H1	KAT8	SETD1A	ZNF81	ETFA	PAK3	AGGF1	MECP2	AP1S2	NFIX	CACNA1E	SERPINH1	WDR35	APC	MSX2	VPS35L	NRAS	ETFDH	INPP5E	KDM4B	ZBTB24	ZNF41	HEPACAM	PSMD12	AFF2	MED13	XYLT1	STAG2	GDI1	C12orf57	FTSJ1	PSAP	SPRED1	GABBR2	NFIB	CC2D2A	RXYLT1	FMR1	HSD17B4	TMEM216	POP1	SLC16A2	ZNF469	CSF1R	LZTR1	MESP2	BMP2	PIGL	ALKBH8	GRIA3	SUZ12	SLC9A7	PEX5	PPP2R5D	GLI2	SMPD1	MTMR14	LARGE1	NOTCH2	CUL4B	HUWE1	SEC24D	RNF125	IDH1	CNKSR2	EML1	BRWD3	BBS1	MPDZ	CDKN1C	TANC2	EIF2B2	DEAF1	POMT1	MAB21L2	FZD2	DIS3L2	DDX6	FKTN	CHRNA7	BCAS3	SETD2	SHOC2	TBX15	IHH	MADD	ARL6	DMD	PALS1	PIGV	SLC25A1	TET3	WASHC5	CLCN7	SMC1A	PEX19	LFNG	TUBB3	ACSL4	ACTL6A	MYMK	POLR3A	KPTN	PLCB4	GUSB	SYP	HERC1	UPF3B	TNFSF11	TSPAN7	GNB2	RAF1	PEX2	ZIC1	CDCA7	ACER3	EXT2	HS2ST1	FBN1	SEC23B	IL1RAPL1	GAD1	SLC35D1	SIX2	CCNK	SATB1	DPYD	H1-4	POLE	MAP2K1	PPP2CA	USP7	PTHLH	PEX10	DYNC2I2	HTT	SUMF1	LRP4	OFD1	PGAP3	ERF	FKRP	RNF135	ZBTB20	CNTNAP2	MID2	IFT74	NDUFS4	CCDC22	ASXL2	KIAA1109	OPHN1	POMGNT1	NEU1	SMO	KRAS	SOST	FAM149B1	ARX	TBL1X	ERMARD	ALG13	MRAS	L1CAM	IDUA	LMBRD2	STEEP1	MTM1	RTL1	HOXD13	SVBP	PCGF2	SEC23A	SH2B1	PIGO	KCNJ8	DPH1	NDUFAF3	YME1L1	TAOK1	TRIM37	UBE3A	SPINT2	HES7	B4GAT1	WASF1	MAP2K2	RPS6KA3	MOCS2	PIGA	GFAP	PTCHD1	B3GLCT	PIGY	IFT80	CAMTA1	ZBTB42	SDHB	EIF2B3	MOCS1	TRAPPC4	TMEM67	RYR1	BGN	PDSS1	TRIO	CWC27	JARID2	HCFC1
HP_MILD_MICROCEPHALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MILD_MICROCEPHALY	THOC6	OCA2	GATA6	SDHD	LARP7	CWF19L1	SDHB	SDHA	PLAG1	COG6	CEP85L	ASPA	UBE3A	RIC1	SDHAF1
HP_ENCEPHALOMALACIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENCEPHALOMALACIA	DNMT3A	MICU1	ABCC6	ALX4	ENPP1	ZNFX1	ANGPTL6	COL3A1	ENG	TGFBR3	THSD1	MSX2
HP_NON_MEDULLARY_THYROID_CARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NON_MEDULLARY_THYROID_CARCINOMA	SRGAP1	HABP2	MINPP1	HRAS	NRAS	FOXE1	NKX2-1
HP_ABNORMAL_CONSUMPTION_BEHAVIOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CONSUMPTION_BEHAVIOR	NDN	ARNT2	CDC73	PREPL	MAPT	ADNP	MYO9A	HSPG2	POMC	YY1	AGRN	TMEM67	LZTFL1	SPEN	KCNJ5	ARID2	RERE	SOX2	KCNJ11	CISD2	IRF4	SLC5A2	NPHP4	SLC41A1	PTPN22	LEPR	DPYD	CACNA1A	SNRPN	CTNS	VAMP1	LARP7	AQP2	SIM1	DPF2	ABCC8	MC4R	ACAT1	DZIP1L	WFS1	SATB2	OCA2	PSEN1	SLC25A13	MAN1B1	SETD2	INSR	SLC25A1	PRKCZ	UBE3A	UCP2	SLC5A7	IFT74	LRIG2	NPHP1	KCNJ1	AVPR2	HTT	SMARCD1	GRN	UBE4B	MEN1	SMARCA4	SYNGAP1	PCDH19	SLC18A3	NTRK2	CASZ1	NEXMIF	SNAP25	GPR101	MAGEL2	COL13A1	HNF1A	ELP2	CASR	CLCNKB	HESX1	ZNF699	PLA2G6	KCNJ10	HSD11B2	SLC2A3	SYT2	CLDN16	PACS1	SLC12A3	SOX4	NPHP3	SMARCB1	SLC3A1	KCNAB2	NLRP3	SMARCC2	HERC2	CHAT	CYP11B2	BSCL2	CTNNB1	CYP11B1	HPSE2	LEP	BRAF	GNAS	AGPAT2	CACNA1D	FGFR1	LUZP1	SCN4A	ARID1A	PWRN1	MBD5	ALMS1	DHPS	MKRN3	MMP23B	SNORD115-1	SOX3	ATP10A	NKX2-1	OTX2	ITPR3	SOX11	PDPN	HNF1B	SMARCE1	PCSK1	PRDM16	ARID1B	GABRD	SKI	BBS9	PROKR2	IL6	SH2B1	CLDN10	SLC7A7	NPAP1	MN1	SNORD116-1	PWAR1	DCDC2	PKHD1	AVP
HP_ABNORMAL_SKIN_MORPHOLOGY_OF_THE_PALM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SKIN_MORPHOLOGY_OF_THE_PALM	WNT10A	DKC1	ITGB4	PERP	RPL10	TNNC1	BRAF	TRPV3	SLURP1	BAG3	TAT	CKAP2L	NEXN	ROR2	TRAPPC11	KDSR	KRT10	KRT5	RAB11B	YY1	DOCK6	RPS23	NECTIN1	TMPO	HDAC4	TCF4	LAMC2	KRT6B	TCF12	ALOXE3	LAMB3	RBM10	LIFR	GJB4	KRT6A	PNPLA1	DSP	CAST	SERPINA12	TWIST1	GJA1	PRDM16	KRT16	CTC1	SLC39A13	PLEC	CHD7	PEX14	COL7A1	TRPM4	AAAS	ALOX12B	POGLUT1	PTCH2	KRT9	TGM1	CARD14	SMC3	TBX4	SEMA3E	GLE1	SLC25A24	BHLHA9	EHMT1	PNPLA6	SDHD	WAC	HPGD	KATNB1	KRT14	SOX18	B4GALT7	KRT1	FKTN	SRD5A3	GJB6	SDHC	PKP1	NALCN	TNFRSF1B	GJB2	PEX6	RIT1	DSG1	SPTBN1	HRAS	PEX1	MBTPS2	KCNN3	SMOC1	BMPR1B	RTEL1	NIPBL	TASP1	MED25	COG6	AUTS2	TELO2	SERPINB7	TSEN54	ARID1B	FLG	CTSB	MTOR	NXN	GATA1	JUP	SLCO2A1	RNU4ATAC	AKT1	NSD2	CREBBP	BRF1	BCOR	RPS6KA3	TBL1XR1	PEX11B	MAP1B	SMC1A	USF3	FIG4	PKDCC	DMD	FGD1	TPM2	NOG	RTL1	RAD21	PLAA	COX14	LMNA	EXTL3	ASXL1	VPS13B	USB1	FERMT1	DES	PEX13	LAMA3	SMARCA2	COL14A1	UBE3B	MYBPC3	PRR12	COL17A1	TERT	DOK7	BRD4	SMPD4	BMP4	CDK19	ATR	KRT17	MCOLN1	RAF1	PEX5	TNNT2	OTUD5	CSGALNACT1	FOXP1	PEX16	PIK3CA	MYPN	TGDS	ATP2A2	KLLN	AAGAB	TERC	NIPAL4	WDR37	NBAS	MYH3	CDK10	MSL3	CSRP3	NLRP1	CD96	KCNH1	ABCA12	CTSC	MEG3	PTEN	PIGL	PLOD3	SDR9C7	PEX26	SGCD	PTCH1	NUP88	PDHA1	ZNF462	CFTR	PEPD	FLNA	PIEZO2	EP300	DLK1	C1R	SMARCAD1	CEP57	GJB3	TRPS1	IVNS1ABP	ATP6V1B2	RIN2	PORCN	TAF1A	TNNT3	MYOD1	PLN	FGF9	APC	SUFU	LBR	HDAC8	KDM4B	PLOD1	TRIM8	RIPK4	LDB3	CSTA	ESCO2	AIP	MCTP2	SASH1	PEX12	CTCF	CTBP1	FGFR2	VPS33A	KANK2	POFUT1	TFAP2A	NUP188	DSG2	VAC14	KAT6B	PUF60	XYLT1	VPS51	TGM5	RAPSN	TXNRD2	CRYAB	TP63	TNNI3	ZNF469	DLX4	PTPRF	LZTR1	LMX1B	FHL2	RHBDF2	NEXMIF	CYP4F22	AQP5	DPAGT1	CCBE1	PSENEN	PPCS	ADAMTSL1	TPM1	LORICRIN	PACS1	DIS3L2	TAFAZZIN	SHOC2	NPM1	KRT6C	TSEN34	GDF5	TSEN15	NUP107	KLHL24	SMS	SEPSECS	PEX19	PIGS	ACTC1	DSE	MYH7	UBR7	IFT43	SCN5A	ACTN2	EXT1	POMP	STXBP1	GNB2	NAA10	PEX2	UBR1	RSPO1	LONP1	ITCH	IFT57	NHP2	TRIM37	PARN	ANKRD1	DSC2	KCNK9	SEC23B	AFF3	ADNP	CPLX1	FGFRL1	TNNI2	CIB1	G6PC3	DPYD	STAG1	CAP2	MAP2K1	PPP2CA	SNAP29	NECTIN4	ANKRD11	TSEN2	SPECC1L	SEMA4D	ATP6V0A2	PSEN2	KRT2	HNRNPK	OFD1	DOLK	CHST3	RBM20	CD28	ASXL2	TTN	FGFR3	PSEN1	CERS3	CHST14	KRAS	KRT83	ARL3	MRAS	SLC18A3	ABCC9	SIN3A	GPR101	NGLY1	IFT122	CTLA4	MTX2	GMPPA	SDHA	NOP10	DPH1	GPR35	LETM1	VCL	MED12	MST1	HAND2	ZNF292	ASXL3	MYH6	MAP2K2	PEX10	ZC4H2	ZMYM2	SETBP1	MAP3K7	MUSK	LEMD3	TINF2	WRAP53	THOC2	B3GLCT	SDHB	DDX11	TCAP	ENPP1	GATAD1	LAMA4	CEP55	IGF1	CD4	PEX3
HP_ABNORMAL_INSULIN_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_INSULIN_LEVEL	CNGB1	ALMS1	PROM1	CERKL	KLF11	YY1	RP1L1	HADH	USH2A	PRPF3	NDN	KCNJ11	INSR	ABCC8	ZNF408	CPE	LEPR	CA4	KIZ	MPI	IFT140	NEK2	SNRPN	CAVIN1	PDE6G	NR2E3	RP2	SIM1	DCAF17	HNF4A	PAX4	RP1	MC4R	ZMPSTE24	CAV1	RBP3	IMPDH1	IMPG1	MAFA	INS	PRPH2	SAG	UCP2	GCK	GALK1	IMPG2	RGR	MAK	AGBL5	KIAA1549	CDHR1	MEN1	RPGR	ARL3	POMC	RHO	SCAPER	POMGNT1	PPARG	AHR	DMXL2	BEST1	CNGA1	MAGEL2	LRAT	MERTK	RNF125	OFD1	PMM2	SLC7A14	PCARE	PRCD	EYS	PLAGL1	PRPF8	REEP6	STAT6	IFT88	HYMAI	IDH3B	GLUD1	FAM161A	DIS3L2	PAPPA2	FOS	ARHGEF18	HGSNAT	ZNF513	NEUROD1	PDE6A	HERC2	BSCL2	RP9	LEP	FSCN2	AGPAT2	TRMT10A	TTC8	KLHL7	HNF1A	ABCA4	TUB	DHX38	DHDDS	ARL2BP	LMNA	PWRN1	IFT172	PDE6B	DBH	ROM1	ESR1	SECISBP2	MKRN3	SNORD115-1	CLRN1	SPATA7	RPE65	RDH12	PRPF6	TULP1	PCSK1	BLK	AKT2	APPL1	CRX	NRL	PRPF4	PDX1	IDH3A	CRB1	CFAP418	RLBP1	SH2B1	NAB2	SEMA4A	NPAP1	CDKN1B	BBS2	ZFP57	ARL6	SNORD116-1	PLIN1	PWAR1	SLC16A1	TOPORS	PRPF31	CEL	SNRNP200	GUCA1B	AHI1
HP_HYPOINSULINEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOINSULINEMIA	STAT6	NAB2	HYMAI	ABCC8	KCNJ11	KLF11	DMXL2	ZFP57	GCK	HNF4A	BLK	PAX4	RNF125	NEUROD1	APPL1	PDX1	CEL	PLAGL1	HNF1A	INS
HP_ELEVATED_HEMOGLOBIN_A1C	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ELEVATED_HEMOGLOBIN_A1C	NSMCE2	YIPF5	KCNJ11	KLF11	INS	MTX2	GCK	HNF4A	BLK	PAX4	NEUROD1	CELA2A	APPL1	PDX1	ABCC8	CEL	HNF1A
HP_REDUCED_NATURAL_KILLER_CELL_COUNT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_REDUCED_NATURAL_KILLER_CELL_COUNT	CD70	PGM3	FCGR3A	PIK3CD	AP3B1	DNMT3B	IL2RG	TOM1	KNSTRN	MCM4	RIPK1	MCM10	NLRC4	SYK
HP_ABNORMAL_SIZE_OF_THE_DENTAL_ROOT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SIZE_OF_THE_DENTAL_ROOT	EDA	MSX1	EDARADD	TONSL	WNT10A	LRP6	TGFA	BCOR	SUMO1	IRF6	WNT10B	FGFR1	PAX9	AXIN2
HP_PULMONARY_HEMORRHAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_HEMORRHAGE	PML	IRF2BP2	ENG	ZNFX1	NUMA1	STAT5B	BCOR	EIF2AK4	NPM1	PRKAR1A	FIP1L1	COL3A1	STAT3	SLC35A1	HMOX1	RARA	PRTN3	NABP1	CTLA4	CTCF	WAS	WIPF1	COPA	HLA-DPA1	TBL1XR1	ZBTB16	PTPN22	NLRC4	SP110	HLA-DPB1	SLC7A7
HP_ABNORMAL_SIZE_OF_THE_CLITORIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SIZE_OF_THE_CLITORIS	ORC1	PEX1	CCNQ	AR	DHCR7	GAD1	ORC4	CDC6	KAT6B	VAMP7	MAP3K1	ATIC	HCCS	INSR	ZFPM2	NR0B1	PEX11B	ESCO2	COX7B	GATA4	SOX9	GMNN	PEX3	CYP11B1	PEX10	PEX13	NR5A1	CAV1	PEX5	VAC14	UBE3B	PEX26	TALDO1	ATR	HSD3B2	NDUFB11	CEP152	FGFR2	PPARG	WT1	WWOX	CYP11A1	FRAS1	TRAIP	MINPP1	CAVIN1	PEX14	FOS	DMRT3	POR	SRY	BSCL2	AGPAT2	PEX2	PEX6	PEX19	FDXR	CDC45	CD96	PEX12	DHX37	UBR1	ARID1B	ORC6	TOE1	CDT1	PPP1R12A	RSPO1	PEX16	FIG4
HP_IMPAIRED_GLUCOSE_TOLERANCE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMPAIRED_GLUCOSE_TOLERANCE	MAFA	WFS1	NSMCE2	INSR	KLF11	SLC5A1	CAV1	GCK	BLK	KCNJ11	NEUROD1	CDH23	APPL1	PDX1	ABCC8	HNF1A	INS	USP8	HNF1B	LRP6	SLC2A2	IFT172	SLC40A1	HNF4A	LMNA	PAX4	POLG2	ESR1	CEL	PSMB8	AIP
HP_ADENOCARCINOMA_OF_THE_INTESTINES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADENOCARCINOMA_OF_THE_INTESTINES	RPL31	RPL15	RPS28	RPS24	GATA1	RPS15A	APC	RPL35	RPS29	MSH2	POLE	POLD1	RPS20	GPR35	TSR2	ADA2	RPL11	RPL5	RPS19	NTHL1	MST1	RPL27	MUTYH	BMPR1A	AAGAB	SEMA4D	MLH1	RPL26	TCF4	RPS27	RPL35A	RPS10	RPL18	RPS17	RPS7	SMAD4	COL14A1	RPS26	GREM1
HP_ADENOCARCINOMA_OF_THE_SMALL_INTESTINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADENOCARCINOMA_OF_THE_SMALL_INTESTINE	NTHL1	BMPR1A	AAGAB	APC	MLH1	MSH2	SMAD4	COL14A1	GREM1
HP_ADENOCARCINOMA_OF_THE_COLON	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ADENOCARCINOMA_OF_THE_COLON	RPL31	RPL15	RPS28	RPS24	GATA1	RPS15A	RPL35	RPS29	POLE	POLD1	RPS20	TSR2	ADA2	RPL11	RPL5	RPS19	RPL27	MUTYH	AAGAB	RPL26	BMPR1A	MLH1	RPS27	RPL35A	RPS10	RPL18	RPS17	RPS7	COL14A1	RPS26	GREM1
HP_NEOPLASM_OF_THE_PITUITARY_GLAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_PITUITARY_GLAND	MEN1	GANAB	PRKAR1A	BICC1	GNAS	PDE11A	TSC1	YY1	CDKN2B	MSH6	CDH23	GPR101	CDKN1B	RPS20	CTNNB1	BRAF	AIP	MLH3	APC	TGFBR2	PDE8B	BMPR1A	SEMA4A	SMARCB1	USP8	IDH1	DNAJB11	FAN1	CDKN1A	MSH2	BAP1	PRKACA	KRAS	PKD2	PMS1	SUFU	EPCAM	ARMC5	SMARCE1	NF2	PMS2	ALG9	IDH2	MLH1	TSC2	TRAF7	TERT	CDKN2C	PDGFB	SMO	PIK3CA	AKT1	PKD1
HP_NASOGASTRIC_TUBE_FEEDING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NASOGASTRIC_TUBE_FEEDING	CC2D1A	GRIN1	IQSEC1	MFF	MOGS	NONO	WAC	SLC45A1	RSRC1	MPDU1	PRSS12	DCPS	TNIK	B3GALNT2	PACS1	NCDN	KDM5B	NACC1	GRIK2	FMN2	AASS	CLIP1	DPM2	MED25	CRADD	PIGC	EPM2A	FRRS1L	ZC3H14	PIK3CD	METTL23	COL4A6	ST3GAL3	WASHC4	ALKBH8	PGAP1	KNSTRN	ASPA	AIMP1	ASXL3	SLC35A2	MBOAT7	BSND	HNMT	HECW2	EDC3	MED23	NHLRC1	TRAPPC9	MAN1B1	SARS1	RECQL4	CARS2	UFSP2	SIM1	ABCD1	PSAT1	CRBN	NDST1	GRM7	TTC5	PTCD3	GNB2	SRCAP	NAA20	LINS1	TUSC3	CLCNKB	KCNK9	COL4A5	TECR	LMAN2L	ACSF3	FBXO31	SLC12A2	ANAPC1	UBE4A	NSUN2	MAGEL2	EZR	NEMF	PLP1	AP1G1	C12orf4	FOXP3	ZNF699	CLCNKA
HP_ABNORMAL_CIRCULATING_FREE_FATTY_ACID_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_FREE_FATTY_ACID_CONCENTRATION	KCNJ11	ABCC8	HADH	UCP2	GLYCTK	HNF1A	ACADVL
HP_DECREASED_SERUM_IRON	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SERUM_IRON	CP	COL7A1	TRNT1	CARD9	PIGA	FOXP1	SKIV2L
HP_MALE_SEXUAL_DYSFUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MALE_SEXUAL_DYSFUNCTION	SACS	HEXB	AR	PRKN	TACR3	CDKN2B	IRF4	HBB	ABCD1	FGF17	DCC	PARK7	AIP	COQ2	FMR1	SLC40A1	PINK1	SPRY4	VPS13C	HESX1	CDKN1A	UBAP1	PROKR2	BAP1	TTR	CDH23	SMARCE1	FGFR1	NF2	NDNF	HFE	CDKN1B	HJV	FEZF1	CHD7	FGF8	TRAF7	CCDC141	WDR11	SMO	HS6ST1	LMNB1	GNRH1	GALC	AKT1	DUSP6	GPR101	TFR2	GNRHR	PROK2	BMP2	KISS1R	HTRA2	ATXN8OS	SEMA3A	MEN1	RTN2	NDP	GUCY1A1	HAMP	SMARCB1	SYNJ1	SNCA	KISS1	DNAJC6	TAC3	SUFU	IL17RD	NSMF	PODXL	FLRT3	UCHL1	ANOS1	TERT	CDKN2C	PDGFB	SOX10	CACNA1G	LRRK2	PIGA	PIK3CA
HP_OLIGOARTHRITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OLIGOARTHRITIS	STAT4	IL2RA	PTPN22	ANKRD55	TOM1	TNFRSF1A	HLA-B	CD247	PTPN2	IL36RN	IL2RB	MEFV
HP_BLIND_VAGINA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLIND_VAGINA	CYP17A1	AR	WT1	MAMLD1	MTM1
HP_DARK_URINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DARK_URINE	AKR1D1	TTC26	PYGM	CPOX	LPIN1	IRAK1	SPP1	MT-CO3	HMBS	MT-CO1	ATP11C	STAT4
HP_HYPOPLASIA_OF_THE_OLFACTORY_BULB	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_OLFACTORY_BULB	POU3F3	ZSWIM6	GSX2	TUBB3	SMCHD1
HP_ABNORMAL_MORPHOLOGY_OF_THE_OLFACTORY_BULB	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_THE_OLFACTORY_BULB	DLL1	GLI2	PTCH1	TDGF1	NODAL	GAS1	POU3F3	GSX2	SHH	FOXH1	SMCHD1	STIL	ZIC2	SIX3	SMC1A	TGIF1	ERBB3	STAG2	FGFR1	TUBB3	CDON	ZSWIM6	DISP1	FGF8
HP_ABNORMAL_SUBSTANTIA_NIGRA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SUBSTANTIA_NIGRA_MORPHOLOGY	ATXN8OS	SLC44A1	GCH1	FBXO7	NR4A2	MAPT	ATXN2	ADH1C	VPS41	ATXN3	SNCA	MT-TT	GBA	GLUD2	SNCAIP	TBCE	SPG11	FTL	LRRK2	WDR45	TBP	C19orf12	PRKN
HP_ABNORMAL_MORPHOLOGY_OF_THE_RADIUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MORPHOLOGY_OF_THE_RADIUS	TRIP11	FLNB	RFWD3	TBX3	TMEM67	CCNQ	DHODH	RECQL4	SHOX	SALL4	IHH	ESCO2	DONSON	SAMD9	TAPT1	FGFR2	FANCF	LMX1B	APC	B3GALT6	NPR2	EIF4A3	FGF10	WNT7A	P3H1	FGF23	COL11A1	IFT43	MMP13	NIPBL	SLX4	RBM10	IFT81	FLNA	EXT1	ALG12	SF3B4	FGFR3	B2M	GDF5	SLC26A2	ATR	FANCI	EXT2	TBX5	RAD51C	RPS19	TRPV4	FANCB	PCNT	RPL26	PRKAR1A	AFF4	MAFB	PRKG2	CHN1	LRP4	GLI3	HOXA11	PDE4D
HP_ABNORMALITY_OF_PERIPHERAL_NERVES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_PERIPHERAL_NERVES	GDAP1	AIFM1	TPI1	NOTCH2NLC	LITAF	RAI1	NALCN	SPTLC1	FBXO38	PMP22	LMNA	FXN	FLVCR1	PLA2G6	PNPT1	MTMR2	PSAP	ATXN1	MPZ	LIG3	NEFL	SBF1	HSD17B4	TRPV4	SACS	CHCHD10	EXT1	IGHMBP2	CTDP1	ARSA	FBLN5	EXT2	IDUA	GALC	CCT5	CYP27A1	REEP1	LAMA2	DNM2	LRSAM1	HPDL	MYH14	PTRH2	NTRK1	SLC12A6	SBF2	PLP1	EGR2	MFN2	SPTLC2	JPH1	DKK1	HK1	SH3TC2	SORD	ERCC8	ATXN10	MED25	SUCLA2	B2M	KIF1A	SYT2	LYST	NDRG1	GJC2	CPLANE1	SPG21	FIG4	GJB1	PRNP	PNKP	DEGS1	RAB7A	TYMP	ERCC4	SOX10	FGD4	DYNC1H1	SCN9A	CADM3	PRX	WNK1	SNAP29	SAMD9L	CEP126	ERCC3	PRPS1	VCP	ATL3	SUMF1	LTBP3	MORC2	ATL1	SLC25A15	DHH	ERCC6	MTRFR	RRM2B	UQCRC1	NEU1	FAM126A	TBC1D20	ARHGEF10	PDK3	HSPB1	NFASC	HSPB8	NGLY1	MFF	BSCL2	VPS13A	TFG	POLG	RETREG1	PLEKHG5	FBN1	DCAF8	GFM2	MATR3	AARS1	KIF1B	ABHD12	SIGMAR1	SETX	PEX6	MPV17	GARS1	DHX16
HP_HYPOLIPIDEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOLIPIDEMIA	APOC3	PCYT1A	MTTP	CCT5	PNLIP	GALNT2	SAR1B	ANGPTL3	NGLY1	CETP	ACOX2
HP_CONGENITAL_MALFORMATION_OF_THE_LEFT_HEART	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONGENITAL_MALFORMATION_OF_THE_LEFT_HEART	FLI1	PAH	NKX2-5	GJA1	CCDC22	B3GLCT	TBX1	PKD1L1	NR2F2	SPOP	COQ4	ARHGAP31	MYRF	GNB2	TBX5	DTNA	ZNF148	WT1	STAG2	KYNU	MCTP2	MKKS	WASHC5	ANKRD11	NADSYN1	TMEM218	FOXF1	SMAD6	NOTCH1	GATA5	CDK8	GATA4	HAAO	TRAF7	POLR3A
HP_NARROW_PALPEBRAL_FISSURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_PALPEBRAL_FISSURE	MED13	DNMT3A	SMAD4	SPEN	TBL1XR1	PCGF2	MEG3	RTL1	KDM4B	SMARCA2	SPOP	RBMX	WDR35	EFEMP2	DDR2	DLK1	SLC6A17	KCTD1	LARP7	PHF6	RECQL4	GATAD2B	DGCR6	DOCK6	TRIP12	INTS1	DDX6	GPC6	B9D2	TENM3	PGM3	ZMYM2	CACNA1G	TBX1	BICRA	TRMT1	PDE4D	SRCAP	HDAC4	DGCR8	MYCN	RPL10	DGCR2	HSPG2	KPTN	KMT2A	EDEM3	CEP55	ESS2	ARID2	PCNT	ADNP
HP_ABNORMALITY_OF_THE_MEDIASTINUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_MEDIASTINUM	STAT6	BCL6	PTPN22	HLA-DRB1	EWSR1	NCF1	CYBA	IRF4	BCL2	PRKCD	HLA-B	TERT	MAGT1	SMARCB1	RASGRP1	APOE	BAP1	BIRC3	EIF2AK4	SUFU	P4HA2	SMARCE1	FOXP1	NF2	CYBB	HLA-DPB1	RHBDF2	GLMN	BTNL2	NCF2	WT1	TRAF7	NAB2	PDGFB	SMO	NUTM1	BCL10	CYBC1	NCF4	PORCN	BRD4	AKT1	PIK3CA	MALT1
HP_ABNORMALITY_OF_THE_THORACIC_CAVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_THORACIC_CAVITY	STAT6	BCL6	PTPN22	EFL1	EFEMP2	HLA-DRB1	EWSR1	NCF1	CYBA	IRF4	BCL2	PRKCD	HLA-B	TERT	MAGT1	SMARCB1	RASGRP1	APOE	BAP1	BIRC3	EIF2AK4	SUFU	P4HA2	FBLN5	SMARCE1	FOXP1	NF2	SRP54	CYBB	HLA-DPB1	RHBDF2	SBDS	GLMN	BTNL2	NCF2	DNAJC21	WT1	TRAF7	NAB2	PDGFB	SMO	NUTM1	BCL10	CYBC1	LTBP1	NCF4	PORCN	BRD4	AKT1	PIK3CA	MALT1	GNPTAB
HP_ABNORMALITY_OF_JAW_MUSCLES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_JAW_MUSCLES	IRF6	TP63	CHRND	CHRNB1	ATXN1	ADGRG1	SCN4A	GIPC1	CHRNA1	AK9	SRPX2	RYR1	DOK7	RAPSN	MUSK	CHRNE	LPIN1	MSX1	AGRN	PI4KA	MT-CO3	CACNA1S	LRP4	NECTIN1	MT-CO1	COL13A1	NOTCH2NLC
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	MAFB	ATL3	RETREG1	HPGD	MMP2	CTSC	MTX2	SCN9A	ZMPSTE24	CTSK	COL3A1	MMP14	PDGFRB	IFIH1	WNK1	DDR2	LMNA	KIF1A	NOTCH2	BANF1	FLNA	ASAH1
HP_ABNORMAL_LACTATE_DEHYDROGENASE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LACTATE_DEHYDROGENASE_LEVEL	AKR1D1	POMT1	GAA	VPS13A	SLC25A13	ACADM	MVK	FKTN	B3GALNT2	MYC	CFH	SLC19A1	PLEC	RHAG	GATA1	RHD	PITRM1	SLC4A1	CRPPA	RHCE	TCIRG1	RPS14	SIL1	KY	LYST	LIPA	LPIN1	JAK2	DAG1	LDHA	B4GAT1	HLA-DRB1	CHEK2	COL4A1	GATA2	CPT2	MT-CO1	RB1	TET2	PIEZO1	RXYLT1	POMT2	CD46	PNPLA2	POMGNT2	FKRP	KCNN4	ZNFX1	USB1	CALR	HELLPAR	SPP1	HBB	FLI1	OCRL	TP53	POMGNT1	CFI	HMOX1	ACAD9	SLC7A7	INPP5K	LARGE1	IRAK1	MT-CO3	POMK	MPL	PIGA	PLA2G6	STAT4
HP_DECREASED_SERUM_COMPLEMENT_C4	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_SERUM_COMPLEMENT_C4	SPP1	C4A	C4B	IRAK1	PRKCD	STAT4
HP_ABNORMAL_DLCO	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DLCO	RTEL1	SFTPC	NDUFAF6	XYLT2	COPA	TERT	EIF2AK4	HLA-DRB1	ABCC6	MUC5B	XYLT1	CSF2RA	SFTPA2	PARN
HP_TIGER_TAIL_BANDING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TIGER_TAIL_BANDING	MPLKIP	GTF2E2	ERCC2	GTF2H5	TARS1	RNF113A	ERCC3
HP_ABNORMAL_LEVELS_OF_ALPHA_FETOPROTEIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LEVELS_OF_ALPHA_FETOPROTEIN	MAD2L2	ZBTB20	SLC25A13	CTNNB1	SETX	KIT	NPHS1	MET	FGFR3	FLI1	PIK3R5	FAH	PIGN	BCL10	MKS1	NR1H4	AFP	PRPS1	RNF168	PEX6	STK11	PLEC	ATM	ITGA6	KIF12	ITGB4	OCRL	NGLY1
HP_ABNORMALITY_OF_THE_TESTIS_SIZE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_TESTIS_SIZE	TSPY1	FANCM	MECP2	CLIC2	CCDC28B	RAD51	FGF17	LEPR	AGA	TSHB	GDF6	SOX9	FANCC	SOX3	SNRPN	HSPG2	TACR3	DCAF17	SPRY4	FSHB	FANCF	SATB2	ERCC4	FMR1	FANCD2	PHGDH	NDNF	HSD3B2	FEZF1	DNAJC19	RPL10	CHD7	BRCC3	WRN	FAM111A	WDR11	FOXA2	WT1	PROK2	DAZ1	FGFR1	CUL4B	TOGARAM1	DAZ4	FANCL	CCDC141	DAZ2	BBS1	HESX1	DUSP6	GNRHR	MBTPS2	KDM5C	XPA	DKC1	PALB2	SEMA3A	ARL6	LEP	SAMD9	XRCC2	MAD2L2	FANCA	HS6ST1	TEX15	SRY	FANCG	FBN1	NF1	ALMS1	C14orf39	DDX3Y	OTX2	TDRD9	MED12	CUL7	LHCGR	IL17RD	NSMF	MAGEL2	MCM8	OCA2	HDAC8	FLRT3	ATRX	NANOS1	NR5A1	SEMA3E	ANOS1	PRKAR1A	PROKR2	UPF3B	ZDHHC9	FGF8	TEX11	GNRH1	SOX10	SRA1	RSPO1	FANCB	IL1RAPL1	XPC	AKT1	FANCI	CYP17A1	ZPR1	ARX	CHRM3	VAMP7	AXL	KCNJ6	PROP1	ZFPM2	DCC	NR0B1	GLI3	GNAS	DDB2	GATA4	BRIP1	MAP3K1	CYP11B1	LHX4	NDN	RBMY1A1	MEIOB	SLX4	SIM1	RAB18	ERCC5	POU1F1	SOHLH1	POLA1	TCTN3	DMXL2	WWOX	MAP3K7	TBC1D20	GBA2	CYP11A1	PMM2	RAD51C	FANCE	SYCP3	CDKN1C	CTDP1	KISS1R	ZMYND15	SLC39A4	GLI2	DMRT3	CFTR	RBMX	UBE2T	PHF8	PNLDC1	ERCC3	DAZ3	PHF6	PQBP1	PTEN	TEX14	SLC29A3	B4GAT1	KISS1	TAC3	KLHL10	CYB5A	DHX37	RLIM	RFWD3	THOC2	USP9Y	CYP19A1	TAF4B	BRCA2	ERCC2	SYCE1	OGT	BRCA1
HP_HYPERKERATOTIC_PAPULE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERKERATOTIC_PAPULE	KRT5	COL7A1	POFUT1	AAGAB	KRT14	LRP1	PSENEN	GJB2	GJB6	POGLUT1	COL14A1
HP_SEROSITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEROSITIS	BRCA1	NPHS1	NPHS2	GAPVD1	MAF	PTPN22	LACC1	HLA-B	IL12A-AS1	COQ8B	CTLA4	FCGR2A	HLA-DRB1	IL12A	MVK	TBC1D8B	IFNGR1	MEFV	IRF4	CD2AP	CALR	NOD2	HBA1	HBA2	C4A	PRTN3	TLR4	DNASE1	APOL1	NUP133	FCGR2B	HLA-DPA1	IL10	EMP2	PTPRO	MAGI2	NUP37	NUP205	ELANE	NUP93	HLA-DPB1	KLRC4	CFB	TREX1	NUP85	TNFRSF1A	ACTN4	IL6	MYH11	MIF	P4HA2	WT1	CCR1	ERAP1	PAX2	PLCE1	ARHGAP24	CRB2	NUP107	IL23R	ARHGDIA	TRPC6	ANLN	ANKFY1	MYO1E	F5	COL4A3	INF2	JAK2	FAS	PMM2	STAT4	UBAC2	PRG4	RNU7-1	NUP160
HP_THIN_EYEBROW	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THIN_EYEBROW	EDARADD	UBE3B	BCL11B	COL11A1	EDA	KDM4B	LIPH	CRIPT	ATP1A2	CLDN1	AEBP1	AASS	CCNK	RMRP	WNT10A	STAG1	TP63	TRPS1	DOLK	SOX18	EDNRA	JUP	BANF1	RPS28	GJB2	NECTIN4	ATP1A3	EDAR	DSG4	ALX4	KDM6A	MEGF8	ASXL3	NECTIN1	NF1	HDAC4	CACNA1A	SLC1A3	KANK2	KREMEN1	MBTPS2	GNPTAB	APCDD1	KRT71	POLR3A	CDC45	ANTXR1	B4GALT7	LPAR6	PEX6	CHST3	KRT74	KMT2D	NAA10	SPINK5	BRF1	KRT17	LSS	PEX1	GJB6	SNRPE	EPS8L3	RNU4ATAC	EBP	KIFBP	ST14	KAT6A	RPL21	TMCO1	DSP	RIN2	CDH3	HRURF	ITGA3	TWIST2
HP_SPARSE_EYEBROW	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPARSE_EYEBROW	STAG2	KAT5	EDARADD	DSC3	GAD1	ALX1	KDM6A	PURA	CLDN1	CDC42	WNT10A	DPH1	FIG4	TBCD	DOLK	JUP	NECTIN4	EBP	LARP7	RECQL4	MEGF8	YY1	NECTIN1	SOS1	HNRNPK	HDAC4	NFIB	KDM1A	TWIST2	KANK2	GNPTAB	APCDD1	WNT10B	KRT71	KRT74	NUP188	LIG4	ANTXR1	HECW2	VAC14	UBE3B	LPAR6	CHST3	GJB2	KMT2D	MAN1B1	GTPBP2	ODC1	IRX5	ZMPSTE24	SPOP	KRT17	LZTR1	DLX4	GJA1	GJB6	SON	KAT6A	TRPS1	RPL21	DSP	RMRP	CDH3	LRP1	ITGA3	TP63	SPINK5	WDR26	TBX3	SIAH1	COL11A1	EDA	MTX2	KRT25	LIPH	CRIPT	LMNA	WDR35	PPP1CB	PPP2R3C	SOX18	EDNRA	HEPHL1	BANF1	RPS28	MED12L	SMS	EDAR	DSG4	SMARCA2	ALX4	NF1	MBTPS2	POLR3A	B4GALT7	ATAD3A	HERC1	MED25	NAA10	MESD	BRF1	NSUN2	RAF1	LSS	SOS2	MEIS2	SNRPE	RNU4ATAC	KIFBP	ST14	TMCO1	COG6	RIN2	HRURF	PQBP1	CWC27	PIGK
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	PGM3	CD3E	DCLRE1C	CD247	CD3D	RAG2	IL2RG	PNP	IL7R	RAG1
HP_ABNORMALITY_OF_BODY_MASS_INDEX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_BODY_MASS_INDEX	FLT1	HTT	SLC2A3	SLC25A13	THOC2	THRA	SLC16A2	CORIN	STOX1
HP_LIMB_MYOCLONUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_MYOCLONUS	SCN2A	PRNP	DRD2	ABCD1	SLC2A1	SMC1A	SCN8A	GABRA1	JRK	MAPT	KCNQ2	KCNQ3	NTNG1	CACNA1H	KCTD7	GABRG2	GABBR2	NOP56	CDKL5	PRRT2	TOR1A	KCTD17	SGCE	ASAH1	TBC1D24	MECP2	CPLX1	GABRB3
HP_KNEE_JOINT_HYPERMOBILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_KNEE_JOINT_HYPERMOBILITY	COMP	LMX1B	MEFV	FGFR3	TNFRSF1A
HP_DECREASED_LIBIDO	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_LIBIDO	CDKN2B	CDH23	AIP	FSHB	CDKN1B	CDKN2C	CDKN1A	MEN1
HP_PAIN_IN_HEAD_AND_NECK_REGION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAIN_IN_HEAD_AND_NECK_REGION	GNAQ	BAP1	ZEB1	AGBL1	SUFU	DKK1	VSX1	TCF4	SCN9A	SMARCE1	TGFBI	TONSL	NF2	HMBS	KRT6A	OVOL2	GNA11	SF3B1	KRT17	TRAF7	TERT	CTNS	SLC39A14	RASA1	PDGFB	SMO	SLC4A11	GRHL2	CYSLTR2	COL8A2	SMARCB1	NTRK1	COL17A1	KRT16	AKT1	HTRA1	CHST6	PIK3CA	KRT6B
HP_ABNORMAL_CERVICAL_SPINE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CERVICAL_SPINE_MORPHOLOGY	CHST14	TRPV4	FUCA1	ARSL	EBP	SLC26A2	FLNB	SOX9	RIPPLY2	GLE1	DSE	DHX37	CHRNG	CHRND	HTRA1	CHRNA1	POLR3A
HP_EARLY_ONSET_OF_SEXUAL_MATURATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EARLY_ONSET_OF_SEXUAL_MATURATION	LMNA	MLXIPL	NTNG2	ZMIZ1	TRMT1	NEUROD2	DLK1	NDN	SMAD4	KANSL1	TXNRD2	KDM4B	FREM1	HRAS	CDON	GTF2I	SNRPN	SCN2A	NCF1	PSMD12	CTBP1	MED13	DOCK3	LIMK1	TSC2	STAR	MED27	EIF4H	CLCN3	AIP	SIX3	GAS1	KMT2D	INSR	PTCH1	KRAS	DDX3X	CDKL5	NRAS	HSD3B2	LRP5	TSC1	ACTL6B	TNRC6B	PPARG	USP7	MKRN3	EMC10	DPYSL5	CNTNAP2	GNAO1	TANC2	PIGT	CAVIN1	PTPN23	MAB21L2	TRIP12	CYP17A1	DDX6	BCAS3	MEG3	MADD	MAPK8IP3	PIGQ	KCNMA1	AGPAT2	PALS1	NNT	BCL7B	KMT2C	NODAL	STIL	KDM6A	FBXW11	WDFY3	ACTL6A	ALMS1	IDH1	BPTF	ARX	MIA3	NF1	TCF20	LHCGR	MAGEL2	KCNA1	STK11	OCA2	RTL1	TONSL	ZIC2	PRKAR1A	FLI1	IFNG	BCORL1	RLIM	METTL27	TBL2	FGF8	NPAP1	DHCR7	HSD11B1	NSD2	CREBBP	TGIF1	EHMT1	PWAR1	CCDC32	IQSEC2	MYT1L	HS2ST1	ANKRD17	GNAS	SPEN	TRIM8	SRCAP	PIGF	CPLX1	FGFRL1	GLI3	NR0B1	SATB1	DYRK1A	ELN	TMEM270	SLC12A2	RFC2	CYP11B1	TDGF1	SOX6	HTT	UBR7	KMT2E	CAV1	FKBP6	SIM1	STX1A	GRIA4	HPDL	BAZ1B	RAB23	RAI1	PLAGL1	SIK1	BUD23	MRAP	LMBRD2	MSL3	DNAJC30	GRM7	TCF7L2	PCNT	PNKP	PUS7	MEN1	DMXL2	GTF2IRD2	DISP1	GLI2	FLII	SVBP	FOS	SYNCRIP	DLL1	CASK	PTH1R	SCN1B	VPS37D	HERC2	DEAF1	LETM1	H6PD	AGO2	PWRN1	ASXL3	SLC35A2	RNF2	WASF1	TANGO2	TFE3	MMP2	SNORD115-1	NTNG1	SHH	EP300	HYMAI	PAPSS2	SPTBN1	FOXH1	BSCL2	CNOT3	MMP14	HUWE1	KISS1R	EIF5A	MC2R	PIGP	KAT8	CLIP2	SETD1A	NR3C1	SNORD116-1	TRAPPC4	SLC25A22	GTF2IRD1	NFIX	JARID2	IDH2
HP_NEOPLASM_OF_THE_PERIPHERAL_NERVOUS_SYSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_PERIPHERAL_NERVOUS_SYSTEM	NF1	MEN1	RET	YY1	SDHD	KIT	CDKN2B	RNF43	LRP1	CDKN1B	SDHC	SDHAF2	SLC25A11	KRIT1	MAX	VHL	SPRED1	GDNF	MLH1	CDKN1A	APC	ASCL1	LZTR1	BAP1	MAFA	KCNJ11	PHOX2B	ATRX	SMARCE1	DNMT3A	NF2	LMNA	SDHB	DLST	TSC2	TRAF7	PDCD10	SMO	AKT1	CCND1	KIF1B	TSC1	PRKAR1A	SPTBN1	HRAS	SMARCB1	FH	MDH2	KARS1	SUFU	ARMC5	SDHA	BDNF	CCM2	TMEM127	DAXX	GNAS	TERT	GCGR	CDKN2C	EPAS1	PDGFB	EDN3	MYO1H	PIK3CA
HP_SCHWANNOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCHWANNOMA	KARS1	NF2	SMARCB1	HRAS	NF1	PRKAR1A	RNF43	SPRED1	LZTR1
HP_INTRACRANIAL_MENINGIOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTRACRANIAL_MENINGIOMA	TRAF7	TERT	SUFU	PDGFB	SMO	SMARCE1	SMARCB1	NF2	AKT1	BAP1	PIK3CA
HP_NEOPLASM_OF_THE_EYE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_EYE	NF1	GNAQ	SEC23B	SDHD	VHL	XPA	TSC1	RET	RB1	SDHC	DDB2	GNA11	PTEN	SDHAF2	ERCC3	NDP	SLC25A11	MAX	KRT10	BAP1	TSC2	FH	KRT1	MDH2	SDHB	PIK3CA	KIF1B	ERCC5	NF2	SDHA	DLST	IFNG	STK11	SF3B1	TMEM127	ERCC4	ERCC2	AKT1	KLLN	CYSLTR2	CHEK2	BRAF	TP53	XPC	MSH6	CCND1	USF3
HP_NEOPLASM_OF_THE_BREAST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_BREAST	FASLG	SEC23B	ERBB2	STK11	NQO2	RNF43	RAD51C	AKT1	BRCA2	POLE	POLD1	GNAS	PRKCD	CDK4	SLC6A17	CDH1	TP53	KRAS	RABL3	PDE8B	BRCA1	RASGRP1	RAD51D	CHEK2	ATM	NBN	RB1CC1	IDH1	APC	BRIP1	COL14A1	CDKN2B	PRLR	POT1	BAP1	MSH6	CDKN2A	ATR	PTEN	TWIST1	CTNNB1	PIK3CA	XRCC3	CASP10	WRN	SLC22A18	BLM	KLLN	ESR1	AAGAB	PALB2	BARD1	PPM1D	PRKN	PHB1	PRKAR1A	MLH1	RAD51	SDHD	PDE11A	FAS	MSH2	ZFTA	SMAD4	SDHC	RAD54L	NTHL1	LMNA	MGMT	MRE11	NF1	CASP8	PRKACA	PALLD	OPCML	MITF	RAD50	MEFV	IDH2	HMMR	SDHB	TERF2IP	MDM2	ACD	FGFR2	MC1R	TERT	AXIN2	USF3	RELA
HP_EPIRETINAL_MEMBRANE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIRETINAL_MEMBRANE	NF2	TRNT1	APC	ZNF408	HLA-A	C1QTNF5	LRP5	CTNNB1	TSPAN12	FZD4	NDP
HP_NUCLEAR_CATARACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NUCLEAR_CATARACT	BFSP1	CHMP4B	MIP	NHS	IMPG2	GJA1	MVK	CFAP410	GALK1	VIM	GJA8	CRYBB2	CRYGC	FTL	CRYBB1	WFS1	HSF4	CRYBB3
HP_CORTICAL_CATARACT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORTICAL_CATARACT	KIAA1549	PANK4	NF2	BFSP1	OPA3	MIP	OCRL
HP_CEREBRAL_PALSY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_PALSY	PROC	NTN1	GABRA2	AUTS2	WDR81	ITGA2B	SLC5A6	AIP	VLDLR	SCN4A	CACNA1D	PCBD1	HPGD	FBXW11	GP1BB	DNASE1L3	PNP	SPTBN1	ITGB3	CA8	SYT1	AP4M1	IDH1	SMARCB1	DNAL4	SLC6A3	RBM10	ATP8A2	UGT1A1	GP1BA	ITGA2	IDUA	SPR	DCC	IDH2	CD109	SLCO2A1	DCX	KANK1	OTUD6B	AP4S1	RAD51	RNF125	TUBB2B	CNTNAP2	GPR101
HP_RECURRENT_HAND_FLAPPING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_HAND_FLAPPING	HERC2	OCA2	NEXMIF	AFF2	GRIK2	ASXL3	HNRNPH2	CDK19	NOVA2	UBE3A	HECW2	FMR1	SYNGAP1
HP_CONSPICUOUSLY_HAPPY_DISPOSITION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONSPICUOUSLY_HAPPY_DISPOSITION	SLC9A6	KANSL1	UNC80	NALCN	SIN3A	HNRNPH2	SATB2
HP_OVERFRIENDLINESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVERFRIENDLINESS	MLXIPL	GTF2IRD2	FKBP6	STX1A	PIGH	MED13L	VPS37D	KANSL1	BAZ1B	ELN	BCL7B	TMEM270	GTF2I	NCF1	METTL27	TBL2	CLIP2	RFC2	BUD23	GTF2IRD1	SMARCA2	LIMK1	EIF4H	DNAJC30
HP_ARTERIOVENOUS_MALFORMATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTERIOVENOUS_MALFORMATION	FANCM	EOGT	ENG	EPHB4	ARHGAP31	RAD51	PALB2	IL6	UBE2T	GUSB	SMAD4	MAD2L2	PIK3CA	FANCA	CCBE1	FANCC	BRIP1	MNX1	FANCG	FAT4	PTEN	ACVRL1	DLL4	FANCF	ADAMTS3	COL5A1	ERCC4	SLX4	FANCD2	COL1A1	NOTCH1	GDF2	RFWD3	DOCK6	COL3A1	GLMN	BRCA2	XRCC2	RASA1	CBS	RBPJ	AGGF1	TEK	FANCB	GNAQ	FANCL	RAD51C	COL5A2	BRCA1	FANCE	KRAS	AKT1	ARL6IP6	FANCI
HP_RECURRENT_PANCREATITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_PANCREATITIS	MT-CO1	MT-TF	CTRC	CASR	CDC73	MT-ND6	PRSS1	MT-ND1	MT-ND4	PRSS2	MT-CO2	MT-TH	MT-ND5	CPA1	MT-TS2	SPINK1	MT-TQ	GCGR	CFTR	MT-TW	MT-CO3	MT-TL1
HP_NEOPLASM_OF_THE_THYROID_GLAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_THYROID_GLAND	FASLG	SEC23B	CDC73	MEN1	CDKN2B	ARID2	AKT1	KCNJ10	KEAP1	PRKCD	MLH3	APC	TGFBR2	RASGRP1	MINPP1	DPF2	HABP2	CDKN1A	ATP7A	MSH2	SMO	NKX2-1	KRAS	PMS1	DICER1	SMARCD1	CDKN1B	MSH3	CHEK2	SMARCA4	MLH1	PIK3CA	CASP10	PTEN	WRN	RET	NRAS	KLLN	EDNRB	BMPR1A	EDN3	SDHD	SOX4	FAS	ERBB2	FOXE1	SLC26A4	PRKAR1A	SMARCB1	MSH6	SMARCC2	RPS20	HRAS	FLCN	SDHC	ERBB3	NRTN	TG	LMNA	ARID1A	SEMA4A	SRGAP1	FAN1	ECE1	CDKN2A	TP53	SREBF1	SOX11	FOXI1	EPCAM	SMARCE1	ARID1B	PMS2	JAG1	GDNF	SDHB	SEMA3C	ABCD1	MDM2	CDKN2C	USF3	SEMA3D	GREM1
HP_TICS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TICS	HDC	PUF60	BCR	VPS13A	ZBTB20	PDGFB	GATAD2B	SPTBN1	PTCHD1	CRKL	PANK2	EMC10	ZSWIM6	MAPK1	ARID2	SLITRK1
HP_MOTOR_TICS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOTOR_TICS	PTCHD1	PANK2	HDC	VPS13A	PDGFB	SLITRK1
HP_ABNORMALITY_OF_THE_PUBIC_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PUBIC_HAIR	LHB	DUSP6	CYP17A1	FEZF1	GNRH1	BMP15	GNRHR	DMRT3	BNC1	VAMP7	SPIDR	AXL	FOXL2	ZFPM2	GJB6	NR0B1	GATA4	SOX9	PPP2R3C	POLR3H	MAP3K1	TP63	FSHB	ANOS1	NR5A1	AR	HLA-DRA	FGF17	COL17A1	PSMC3IP	APCDD1	CYB5A	DHX37	NUP107	SEMA3E	MDM2	ORC6	WDR11	FSHR	EPS8L3	SPRY4	WT1	WWOX	SRA1	MRPS22	SRY	CCDC141	ITGB4
HP_ABNORMALITY_OF_THE_AXILLARY_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_AXILLARY_HAIR	LHB	DUSP6	TBX3	CYP17A1	FEZF1	DSC3	GNRHR	DMRT3	APOE	VAMP7	MAP3K1	AXL	ZFPM2	GJB6	NR0B1	TP63	SNRPE	GATA4	CCBE1	SOX9	PPP2R3C	FAT4	FSHB	NR5A1	PSMB8	AR	HLA-DRA	ADAMTS3	FGF17	COL17A1	ZBTB20	APCDD1	CYB5A	DHX37	SEMA3E	ORC6	WDR11	EPS8L3	GNRH1	SPRY4	WT1	WWOX	SRA1	LPAR6	SRY	CCDC141	AXIN2	ITGB4
HP_FRAGMENTED_EPIPHYSES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FRAGMENTED_EPIPHYSES	COL9A2	COMP	KIF22	COL9A1	COL9A3
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	RASA2	FGF9	MAF	MLXIPL	POR	COLEC10	DONSON	HDAC8	B3GALT6	CPLX1	FGFRL1	RAD21	FGFR3	KAT6B	GDF5	XYLT1	SALL4	MECOM	RRAS	FGFR2	ESCO2	NOG	NIPBL	ELN	FLNB	RIT1	SMOC1	TMEM270	GTF2I	BCOR	APC	DHODH	NCF1	RAF1	CHSY1	CTBP1	ROR2	RFC2	PIEZO2	KRAS	LIMK1	EIF4H	PAX3	B3GAT3	TBX22	RECQL4	BICRA	FKBP6	SPRED2	BMPR1B	BRD4	STX1A	MYH3	CANT1	MACROH2A1	COLEC11	TWIST1	BAZ1B	EVC2	GLI1	HOXA11	MAP3K7	RRAS2	FLNA	BUD23	ANAPC1	NONO	DNAJC30	LZTR1	SMC3	CHST3	EVC	BHLHA9	HOXD13	GTF2IRD2	TCF12	TFAP2B	B4GALT7	FGF16	VPS37D	TBX15	MRAS	SF3B4	LETM1	BCL7B	CYP26B1	MASP1	WNT7A	IHH	DYNC2LI1	SOS1	HOXA13	SETBP1	GSC	TBX5	PITX1	ZIC1	NXN	NRAS	SOS2	PTDSS1	METTL27	TBL2	CLIP2	CBL	NSD2	RPL26	GTF2IRD1	FBLN1	RBM8A	FGFR1	PQBP1	SMC1A	LRP4	ATP7A	PTPN11
HP_SYNOSTOSIS_OF_JOINTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNOSTOSIS_OF_JOINTS	FGF9	SMAD4	MLXIPL	SUFU	OFD1	COLEC10	DONSON	HDAC8	RAD21	ROR2	XYLT1	SALL4	RRAS	ESCO2	NOG	RBM8A	FLNB	RIT1	SMOC1	GTF2I	BCOR	APC	ABCC6	NCF1	RAF1	CHSY1	CTBP1	PIEZO2	LIMK1	GDF5	HGD	EIF4H	FGFR2	TFAP2A	DNAL4	PAX3	TBX22	COL2A1	BMPR1B	CANT1	SIX6	TWIST1	FANCI	CHRNG	KANSL1	DCC	NALCN	HES7	GDF6	EVC2	GLI1	NADSYN1	MYO18B	RAD51	COLEC11	PTCH2	ATP7A	HOXA11	SMC3	MEOX1	CHST3	BHLHA9	NONO	HOXD13	PTCH1	DKK1	VANGL1	FGFR3	NOTCH3	NTN1	TFAP2B	B4GALT7	FGF16	SOX2	RECQL4	POR	TBX15	MRAS	SF3B4	BCL7B	CYP26B1	MYH3	B3GALT6	WNT7A	FKRP	IHH	DYNC2LI1	SOS1	IL1RN	PTH1R	FLNA	SETBP1	SOX5	MAP3K7	EVC	GSC	PITX1	NXN	NRAS	SOS2	PTDSS1	METTL27	TBL2	NSD2	RPL26	FGFR1	MASP1	MAFB	CHN1	SMC1A	RASA2	GPC3	MAF	FGD1	TPM2	CPLX1	FGFRL1	KAT6B	TNNI2	MECOM	NIPBL	MESP2	ELN	RIPK4	TMEM270	DHODH	ANKRD11	TBX6	RFC2	KRAS	B3GAT3	BICRA	FKBP6	SPRED2	BRD4	STX1A	DLL3	MACROH2A1	SLC26A2	BAZ1B	GDF3	PUF60	RRAS2	BUD23	ANAPC1	LMBR1	DNAJC30	BMPER	ENPP1	LZTR1	CHRND	GTF2IRD2	TCF12	VPS37D	LETM1	MKKS	SALL1	TBX4	FN1	FUZ	GPC4	HOXA13	TBX5	ZIC1	CHRNA1	WBP11	PCNT	CLIP2	ACVR1	CBL	AFF4	GTF2IRD1	FBLN1	PQBP1	TNNT3	LRP4	GLI3	PTPN11
HP_SARCOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SARCOMA	FASLG	APC	SUFU	DICER1	TLR2	KIT	CDKN2B	GATA1	LRP1	AKT1	BRAF	KRAS	FH	PRKCD	SLC22A18	PDE8B	GJC2	NF1	TSC2	SPRED1	MLH1	ANTXR2	PAX3	CDKN1A	RPL18	RPS17	RPS7	ASPSCR1	BAP1	PRLR	RPS28	MLH3	BMPR1B	EXT1	MC1R	BUB1	FAM20C	SMARCE1	TSC1	MSH6	NF2	MCC	RPL35	EXT2	RSPRY1	CASP10	WRN	TRAF7	NOTCH3	NR4A3	RPL5	SMO	FLCN	BMPR1A	PTCH2	TAF15	RPS27	SDHC	CCND1	AURKA	BUB1B	PDGFB	SDHD	PDGFRB	EWSR1	NRAS	CTNNB1	MSH2	SSX1	RPS20	AXIN2	PDGFRA	RPL27	SPTBN1	HRAS	SMARCB1	NBN	IDH1	RPL35A	KCNN3	RPS10	RPS26	PRKACA	DLC1	RPS15A	PRKAR1A	IFNG	SRC	SDHB	TERT	MDM2	BUB3	KRT17	CEP57	USF3	PIK3CA	GREM1	ABCA5	SEC23B	CDC73	RPL15	MEN1	RB1	KEAP1	CDKN2A	FOXO1	BAX	FOXC2	KCNH1	COL4A6	SOS1	RECQL4	RASGRP1	SQSTM1	SSX2	PTPRJ	COL1A1	REST	TP53	CDKN1B	FLNA	CHEK2	RPS19	PLA2G2A	PLCD1	COL4A5	RPL11	DCC	KLLN	ANAPC1	PAX7	RPL26	EP300	DHCR24	BRD4	ELMO2	PDGFRL	FLT4	PDE11A	FAS	RPS24	PTEN	PTH1R	TBX18	PTPN12	PTPN11	GNAS	PTCH1	ADA2	MAP2K1	LMNA	RAD54B	RPL31	SDHA	TRIP13	RPS29	IDH2	TSR2	WT1	CDKN2C	FGFR3	NUTM1	ATP6V1B2	MTAP	GDF5
HP_LEIOMYOSARCOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEIOMYOSARCOMA	BUB1B	AKT1	NRAS	PIK3CA	MLH3	TP53	DLC1	BUB1	CTNNB1	TLR2	FLCN	PTPN12	MCC	APC	FH	SRC	AXIN2	BAX	PLA2G2A	DCC	FGFR3	BRAF	RAD54B	CHEK2	EP300	CCND1	PDGFRL	AURKA	PTPRJ
HP_FIBROSARCOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FIBROSARCOMA	APC	PDGFB	FOXC2	COL1A1	MTAP	SPRED1	CTNNB1	BMPR1A	GREM1
HP_DESMOID_TUMORS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DESMOID_TUMORS	APC	SPRED1	CTNNB1	BMPR1A	GREM1
HP_METAPHYSEAL_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METAPHYSEAL_DYSPLASIA	HDAC6	COL2A1	EFL1	POP1	LRRK1	DNAJC21	LONP1	TMEM165	CDKN1C	SBDS	SRP54	SFRP4	GPX4	EXTL3	PTH1R	RUNX2	COL10A1	EIF2AK3	RMRP	NKX3-2	ALG3	POLE	MMP13	AIFM1	ACP5	FGFR3	IDH1	PIK3C2A	UFSP2	DYM	TGFB1	GJA1	CWC27
HP_SENILE_PLAQUES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SENILE_PLAQUES	TREM2	TMEM106B	PRNP	GRN	APOE	PSEN2	ABCA7	CHMP2B	PSEN1	VCP	MAPT	C9orf72
HP_ECTRODACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECTRODACTYLY	JPH1	EOGT	FGFR1	SEM1	PIGG	TP63	DHCR7	CPLX1	FGFRL1	ARHGAP31	PRX	BTRC	ITGB6	NEFL	LSS	AHSG	INF2	PMP22	LETM1	FGFR3	MPZ	MED12	CTBP1	ROR2	WNT7A	MORC2	WNT10B	DLX5	IGF2	NELFA	GNPTAB	SLC52A2	NDRG1	DLL4	BHLHA9	HSD17B4	ARSB	MMP2	SIGMAR1	NOTCH1	CTSD	HMGA2	IRF6	FGFR2	TBX5	DOCK6	GDAP1	NXN	NSD2	PORCN	EPS15L1	IDS	TCTN3	RBPJ	HSPB1	CDH3	HINT1	BSCL2	MBTPS2	SVBP	DLX6	CTDP1	CDKN1C	GLI3	SBF2	EGR2	PLAG1
HP_PREAXIAL_POLYDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREAXIAL_POLYDACTYLY	B9D2	PIGG	DYNC2I1	OFD1	CPLX1	FGFRL1	TMEM216	SALL4	IFT172	EFTUD2	CEP120	C2CD3	KIF7	CTBP1	TCTN2	MEGF8	GLI1	DYNC2I2	FAM149B1	NELFA	TFAP2A	ZSWIM6	CTU2	INTU	SHH	KIAA0753	LETM1	CENPF	DYNC2H1	BMP4	B9D1	CSPP1	FGFR2	GLI3	FANCD2	LMBR1	TMEM237	FGF10	RAB23	PUF60	NSD2	TCTN3	HOXD13	NEK9	TXNDC15	CILK1	TCTN1	NEK1	CNTNAP2	ZNF699	BHLHA9	PDE6D	CEP290	COLEC10	PHF8	HYLS1	SALL1	SMO	TMEM107	GJA1	KIAA0586	TMEM67	IFT43	RPGRIP1L	CDC45	PITX1	MKS1	FLNA	CPLANE1	TOPORS	CC2D2A	FGFR3	DACT1	RPGRIP1	IFT80	EXTL3	IFT57	MAFB	CHN1	TMEM231	WDR35
HP_POSTAXIAL_POLYDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POSTAXIAL_POLYDACTYLY	DYNC2I1	OFD1	TMEM67	PRKACB	LZTFL1	AKT3	TMEM216	CCDC28B	HYLS1	GPC3	INPP5E	GDF6	SMOC1	EVC	IFT172	CEP120	ARL6	C2CD3	MBTPS2	TCTN2	MEGF8	TBX1	IFT140	CC2D2A	NKX2-6	TMEM231	SDCCAG8	CTU2	TTC26	GPC4	INTU	BBS9	IFT27	RBM10	BBS2	SHH	BMPR1B	DDX59	TBX3	DYNC2H1	B9D1	CSPP1	LMBR1	TMEM237	BBS5	IFT74	CFAP418	HOXD13	NKX2-5	EVC2	CEP290	ARMC9	CEP19	BBS7	ALX3	TOGARAM1	IQCE	CILK1	BBS1	NEK1	SC5D	DYNC2I2	RPGRIP1L	GLI3	WDR35	PPP2R1A	GLI1	MKS1	KIAA0586	TGFBR1	TMEM107	PIK3R2	IFT43	CD96	SETD5	KIF3B	UQCC2	IFT81	RAB23	RPGRIP1	PORCN	SUFU	IFT52	DHCR7	TGFBR2	IFT57	TMCO1	NPHP3	PRKACA	WNT7A	GLI2	B9D2	KIAA0753	KIAA0825	PLAA	TRIM32	BBS12	TTC21B	USP9X	KIF7	DYNC2LI1	BBS4	NCAPG2	ZNF141	HNRNPK	HOXA13	CRB2	FLNA	OTUD5	MKKS	IFT80	TCTN3	SYNGAP1	SMO	CHST11	EBP	SCAPER	FGFR2	BBS10	LBR	TXNDC15	TCTN1	CIBAR1	BHLHA9	GATA6	WDPCP	CCND2	BBIP1	COG6	TTC8	SETBP1	GDF5	PDE6D	NPHP1	WDR19	CPLANE1	TMEM218	EXTL3	BMP4
HP_MESOAXIAL_POLYDACTYLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MESOAXIAL_POLYDACTYLY	HOXD13	CPLANE1	TOPORS	FAM149B1	TCTN3	KIAA0753	CHSY1	FGFR2	LZTFL1	MKKS	TFAP2B	PDE6D	OFD1	TMEM216	KIF7	GLI3	TWIST1
HP_ABNORMAL_TENDON_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TENDON_MORPHOLOGY	FKTN	ITGB4	UNC80	MECP2	SLC25A4	MYO9A	AGRN	PYROXD1	EED	MT-TE	RTTN	PDX1	XYLT1	EXOSC3	DPM2	SLURP1	CDC42	NT5C2	IL6ST	PCNA	RYR1	NKX3-2	KLHL41	BCOR	FLVCR1	PAX3	HSPG2	SPRTN	COL6A2	TGIF1	GTF2H5	PIEZO2	FBN2	CYP27A1	SELENON	APOB	ZMPSTE24	ERCC3	EXOSC5	LDLRAP1	EMD	COASY	ERCC2	BIN1	LIFR	GCK	MYLPF	IGHMBP2	DSE	SLC2A10	WDR4	CDON	CHRNG	SLC5A7	TRIP4	RAPSN	TBCD	SLC39A13	RPL10	LAMA2	FGFR1	RNF13	HOXD13	NEFL	CCN2	GORAB	BICD2	COL1A2	ESCO2	GBA	CRKL	SHPK	SLC6A9	IFIH1	PSTPIP1	F8	TBX4	TNNI2	CHST3	ERLIN2	GNRHR	DHODH	FANCC	SNX14	LAMC2	B4GALT7	C19orf12	ERCC1	GLI3	WIPI2	GFPT1	SGCG	KIDINS220	NALCN	ALG3	STIL	SKI	CLCN3	KY	MTMR14	LMBR1	IBA57	TGFBR1	WNT7A	FKRP	SIX3	HRAS	AP4E1	DSP	CAV1	COL6A3	SLC25A19	RAB3GAP1	FAM20C	FUS	LEMD3	SMOC1	ECEL1	NIPBL	FLNA	PTCH1	LMOD3	FUCA1	NSMF	SLC39A14	EPCAM	ZIC2	SCYL2	TARS1	GRID2	TELO2	PCSK9	SMS	DEGS1	ALX3	PLOD2	DISP1	ZDHHC9	RNU4ATAC	KCNN3	TGFBR2	CREBBP	PTRH2	FHL1	DYRK1A	APOE	PRG4	ALDH18A1	ZPR1	ERGIC1	COL12A1	PLOD1	IDS	PIP5K1C	ADAT3	RTL1	BAG3	KAT6B	CADM3	PLAA	PIK3R2	NLRP3	FGFR2	ADAR	POMT1	FERMT1	GBE1	GMNN	FLRT1	NGLY1	SYT1	MYPN	COL2A1	ERCC5	MSH2	ADAMTS3	SIK3	RIPPLY2	FGF8	RAB18	DNM2	SLC26A2	PEX5	LDLR	TNNT3	OTUD5	LMNA	STAC3	KCNK9	TGDS	ERLIN1	GAS1	EPB41L1	EMG1	DNAJB6	ITCH	COL13A1	ATP6V1A	GBA2	ZNF469	PMM2	DPAGT1	DMD	SATB2	MSL3	MBTPS2	TNPO3	BRAT1	CHRND	DLL1	LGI4	CLCF1	SIL1	TTR	FLVCR2	TSEN54	CCR6	ASCC1	DST	SLC16A2	FBN1	CRLF1	VWA1	TAPT1	IARS2	FDFT1	UCHL1	MYOT	L1CAM	STIM1	HACD1	PHF6	OSGEP	ERCC8	PDHA1	SLC29A3	KISS1	ANTXR2	ACTA1	EP300	KLHL40	LMX1B	ADGRG1	DVL3	ABCD1	PSAT1	ERCC6	TUBB3	COL6A1	PRDM5	ALG14	PLXND1	THOC6	NUP88	RNASEH2A	KIAA0753	SGCA	PORCN	CACNA1A	MYOD1	PYCR2	OCRL	POLR3GL	ORC1	TTN	TPM2	KRT14	ORC4	KRT9	RIPK4	BCAS3	FGF17	PITX1	TGM1	ASAH1	MYH3	HSPD1	CTCF	RFC1	ORAI1	TRAK1	STAG2	IRF5	CNTNAP1	SDHA	MEGF8	HGD	COL11A2	PPP1R17	CHRNE	TFAP2A	NUP188	KBTBD13	GCH1	ALG12	PEX7	PRKCZ	NEB	DCHS1	TBX3	HIKESHI	CTDP1	CDK5	MMP1	CCDC32	PSMG2	IDUA	AP4B1	MLH1	LZTR1	MESP2	UROS	PHACTR1	GJA1	WDR11	GLI2	ACTG2	HPDL	CCBE1	EXOC7	PLA2G6	TRPV4	FGFR3	TMEM70	SYT2	KLHL7	COL3A1	KCNAB2	CHAT	VIPAS39	ALAD	ATP6V1E1	COG1	MFN2	PIGS	TRPV3	SEMA4A	CNTN1	GAN	VPS11	PSMB4	CAPN3	TNNT1	SLC25A46	SETBP1	PDPN	SHH	TDGF1	PLEC	MAP3K7	GJB2	CD244	LARGE1	GSC	MYL2	PMS2	MAPK1	MUSK	ABCG5	LONP1	ERCC4	SUZ12	TPM3	CHRNA1	CDC45	GRIA4	NODAL	COL7A1	APC2	TBC1D2B	POR	ALS2	GAD1	TMEM43	AHSG	SPEN	H1-4	USP7	VAMP1	TMEM107	MEGF10	B3GALT6	SDHB	DYM	SPTBN4	KLC2	GMPPB	VRK1	SPEG	MORC2	SMARCAD1	PSMB9	MPDU1	PIGY	KIAA1109	HBA2	ALG13	MEG3	WDR45B	PI4KA	TCTN3	HS6ST1	RBM28	AP4S1	CUL4B	MTM1	MYBPC1	ARID1B	ROR2	ABCC8	PROK2	LTBP4	MED13L	ERBB3	NOD2	PRUNE1	OPA1	GLUL	DLK1	KIAA0319L	CHST14	SOX10	ASXL3	ALG9	SLC35A2	TFG	JUP	SEC31A	ABHD12	GPC4	PPP3CA	ALG2	MED12	NSD1	GDF5	SON	ANKLE2	PEX1	FITM2	PYCR1	ARX	WDR73	BHLHA9	DAG1	TRIM2	PERP	EXTL3	SH3PXD2B	GJB6	OTUD6B	CEP55	ORC6	ADAMTSL2	SPART	SMAD4	TGFB3	TP63	CDC6	TTPA	TWIST2	LPIN2	DPM1	ITGB6	KCNJ6	INS	EZH2	MRPS34	EBP	ZNHIT3	NPPA	YY1	SUCLG1	TOR1A	AMER1	ADCY6	MPLKIP	MMP2	SLC25A1	ALG1	PTPN22	CANT1	MAN1B1	LIAS	FIBP	GLE1	TPRKB	FOXH1	DDR2	CHD7	BRPF1	GTF2E2	SYNE2	SALL4	MYO18B	RNASEH2C	NACC1	SMAD3	DUSP6	PHGDH	KDM5C	ITGA7	SMC1A	NEDD4L	FUT8	EFNB1	SLC1A4	AIMP2	SLC18A3	RPS20	SCN5A	ZNF335	SLC10A7	MTX2	ARL6IP1	ZEB2	DARS2	SMG9	NFKBIL1	ABL1	MYH7	WDR26	FIG4	GPKOW	POLD1	NDE1	MED25	CCN6	AUTS2	PRDM16	MAP3K20	VPS53	PIGN	NXN	POU3F4	KCNJ11	BRF1	CIITA	MYH8	COL11A1	MAGEL2	DVL1	SNRPB	CDK13	SVIL	FCSK	HBA1	PIGP	GPC3	SAMHD1	FGD1	ACADM	TACR3	SPTLC1	VPS33B	ASXL1	SIGMAR1	GFM2	RERE	CHRNB1	NSUN2	LSS	DDHD2	MLH3	POMT2	PRKCG	FKBP10	SLC35A3	ITGA6	PTPN2	COL17A1	KRAS	DOK7	ELN	SMPD4	PPT1	BMP4	CLDN11	KL	ADGRG6	ATR	FOXP1	MTRFR	EXOSC8	TBC1D20	KRT16	REV3L	ZBTB20	CDH3	CRYAB	POMK	DLL3	ABCG8	KISS1R	PIGL	PLOD3	ECE1	MAF	ATRX	WNT5A	CFL2	DNA2	ATAD1	KIF1A	PMP22	BMPR1A	COG5	ANKRD55	SMARCA2	IL2RA	TRPS1	FAN1	APOA2	SYNE1	CLIC2	EXOSC9	NARS1	TAC3	TMEM222	EPHX2	HLA-DRB1	AIMP1	SDHAF1	IL2RB	ELOVL4	SDHD	CDT1	SRD5A3	RFT1	PQBP1	CACNA1E	GNPTAB	NDUFAF4	MLXIPL	STAT3	ALG8	SNAP25	NOG	SEPSECS	SRPX2	FBXW11	SPRY4	LAGE3	VPS33A	PSMB8	KRT1	POP1	KLHL9	UBE4B	IL10	EXOC6B	KIF14	DCX	PAX7	HUWE1	MYL1	IDH1	SLC12A6	NUP107	CHMP1A	KIF5C	RNASEH2B	FZD2	VMA21	SETD2	TBX15	GNPAT	LFNG	CD247	PLEKHG5	MYMK	MMP23B	POLR3A	GDAP1	TOR1AIP1	GUSB	KIF15	ZNF407	ANO5	GNB2	NAA10	PROKR2	PNPT1	UPF3B	PTDSS1	PIK3CA	ACER3	NSDHL	MAFB	RIC1	CHN1	EXOC2	SPG11	CRPPA	ALX1	GNS	FAT4	PLP1	SCN4A	CCDC47	CAVIN1	EXOC8	NCAPG2	ZC4H2	PPP2R5D	AIFM1	LAMB3	GHR	KIF5A	B3GAT3	PIK3C2A	CPT2	TP53RK	NUP133	PMS1	SCARF2	CCDC22	RAB23	ACADS	RNF113A	HS2ST1	CASZ1	GNRH1	HINT1	SLC9A6	DHCR24	P4HTM	UFC1	GARS1	BCR	NEK9	MYH2	MSH6	UBA1	DPH1	SLC22A4	SLC1A2	NKAP	SLC39A8	LUZP1	BANF1	HES7	IKBKG	KIF22	COQ7	TBR1	RAB3GAP2	IPO8	PEX6	LMNB1	PIGA	AP1S2	JAG2	CARS1	GABRD	STAT4	PTH1R	ZBTB42	PPP1R21	EIF5A	GJB1	TMEM218	LAMA3	PEX2	TREX1	BGN	DHX16
HP_SYNOSTOSIS_INVOLVING_DIGITS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNOSTOSIS_INVOLVING_DIGITS	NOG	BHLHA9	IHH	PTDSS1	RECQL4	PCNT	CHSY1	GDF5	ANAPC1	TFAP2B	NONO	PQBP1	BMPR1B
HP_DISTAL_SYMPHALANGISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DISTAL_SYMPHALANGISM	IHH	NOG	PCNT	TFAP2B	GDF5	BMPR1B
HP_PROXIMAL_SYMPHALANGISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROXIMAL_SYMPHALANGISM	NOG	BHLHA9	PTDSS1	CHSY1	NONO	GDF5	PQBP1
HP_SYNOSTOSIS_OF_METACARPALS_METATARSALS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNOSTOSIS_OF_METACARPALS_METATARSALS	SMOC1	FGF9	SALL1	NOG	NONO	HOXD13	FGFR3	TCF12	POR	FGF16	FBLN1	SLC26A2	BHLHA9	GDF5	ZIC1	PQBP1	TWIST1
HP_SYNOSTOSIS_OF_CARPALS_TARSALS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNOSTOSIS_OF_CARPALS_TARSALS	EVC	HOXD13	OFD1	FGFR3	TPM2	RECQL4	TNNI2	SALL4	POR	NOG	ESCO2	FLNB	MKKS	MYH3	APC	B3GALT6	TBX4	CHSY1	ROR2	GDF5	DYNC2LI1	SMOC1	PAX3	BMPR1B	HOXA13	FLNA	GDF6	MACROH2A1	BHLHA9	PITX1	NALCN	NXN	EVC2	GLI1	MAP3K7	FGFR2	LMBR1	FBLN1	FGFR1	RBM8A	TNNT3	ATP7A	LRP4	GLI3
HP_LIP_PIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIP_PIT	KMT2D	IRF6	TP63	OFD1	MSX1	EYA1	KDM6A	RIPK4	SIX1	NECTIN1	TFAP2A	GRHL3
HP_NEOPLASM_OF_THE_COLON	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_COLON	APC	STK11	RPL15	GATA1	RNF43	POLE	POLD1	MLH3	PMS2	TGFBR2	RABL3	BMPR1A	HABP2	MLH1	RPL18	RPS17	RPS7	MSH2	COL14A1	KRAS	PMS1	RPS28	MSH6	CDKN2A	MINPP1	PTEN	RPL35	CHEK2	RPS19	BRCA1	RPL11	RPL5	BLM	AAGAB	RPL26	RPS27	PALB2	SH3KBP1	RPS24	FLCN	RPS20	SMAD4	BUB1B	SMAD7	ADA2	FOXE1	PDGFRA	BRCA2	NTHL1	RPL27	AXIN2	SEMA4A	BUB1	KIT	RPL35A	FAN1	RPS10	TP53	SDHC	RPS26	RPL31	SDHA	TRIP13	PALLD	EPCAM	MUTYH	SDHB	RPS15A	ENG	RPS29	TSR2	MDM2	BUB3	PIK3CA	CEP57	MSH3	GREM1
HP_DIFFUSE_CEREBELLAR_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DIFFUSE_CEREBELLAR_ATROPHY	FMR1	MPLKIP	GTF2E2	CARS2	EMC1	ERCC2	GTF2H5	BTD	TARS1	PEX10	TXN2	KIF1A	TBC1D24	ERCC3	DAB1	RNF113A
HP_SKIN_PIT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_PIT	SUFU	NKX2-5	OFD1	KAT6A	CITED2	CPLX1	FGFRL1	KDM6A	CIB1	LRP1	RIPK4	HK1	ANK1	GPC3	NKX2-6	CTBP1	EYA1	SPECC1L	PAX1	MED12	POFUT1	GATA6	TFAP2A	GPC4	IRF6	KMT2D	GATA4	SIX1	XYLT2	RAB23	ZFPM2	HNRNPK	KDR	EDN1	GATA5	ATP2A2	UBE2A	NECTIN1	PSENEN	MITF	POGLUT1	PTCH2	SYK	MID1	JAG1	PTCH1	GDF1	PPP1CB	LETM1	SALL1	EDNRA	MSX1	TP63	TBX1	GNAI3	EIF2AK3	PLCB4	ZNF462	GJA5	B3GLCT	AUTS2	GSC	GRHL3	STAG2	WBP11	NSD2	KRT5	FLT4	KCNJ2
HP_PERIAURICULAR_SKIN_PITS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIAURICULAR_SKIN_PITS	JAG1	NKX2-5	GDF1	KAT6A	CITED2	CPLX1	FGFRL1	SIX1	LRP1	HK1	ANK1	GPC3	PPP1CB	LETM1	SALL1	EDNRA	NKX2-6	PAX1	CTBP1	EYA1	SPECC1L	TBX1	KDM6A	GNAI3	EIF2AK3	MED12	GATA6	TFAP2A	PLCB4	ZNF462	GPC4	GJA5	KMT2D	B3GLCT	GATA4	AUTS2	GSC	XYLT2	RAB23	STAG2	ZFPM2	HNRNPK	WBP11	KDR	EDN1	GATA5	NSD2	FLT4	UBE2A	MITF	KCNJ2	SYK	MID1
HP_ULCERATIVE_COLITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ULCERATIVE_COLITIS	NOD2	CYBC1	MST1	MAP3K7	SLC37A4	SEMA4D	IL6	IL37	MASP2	TCF4	INAVA	GPR35	BACH2	PLCG2
HP_CROHN_S_DISEASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CROHN_S_DISEASE	IGHM	PSTPIP1	NOD2	CYBC1	CARD10	PI4KA	IL6	CTLA4	MEFV	IL10RA	INAVA	BACH2	IL21	SYK
HP_EMG_IMPAIRED_NEUROMUSCULAR_TRANSMISSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMG_IMPAIRED_NEUROMUSCULAR_TRANSMISSION	CHRND	SYT2	NOTCH2NLC	MYO9A	AGRN	CHRNE	LAMB2	GFPT1	CHAT	TTN	SPEG	CACNA1D	RYR1	DOK7	MUSK	VAMP1	COLQ	ALG2	LRP4	CHRNA1	OPA1	BIN1	CHRNB1	SLC25A1	DPAGT1	SCN4A	SLC5A7	GMPPB	ALG14	AK9	SLC18A3	RAPSN	SNAP25	COL13A1
HP_EMG_SLOW_MOTOR_CONDUCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EMG_SLOW_MOTOR_CONDUCTION	SPTLC1	ATL3	SPTLC2	DMXL2	ATL1
HP_MUSCLE_FIBER_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_FIBER_ATROPHY	SELENON	PLOD1	TTN	ITGA7	CNBP	VPS13A	SARS2	SYT2	TRAPPC11	POLG	SPG11	MYO9A	ALS2	AGRN	CHRNE	SPTLC1	LAMB2	TMEM43	SIGMAR1	GFPT1	CHAT	ACTN2	LMNA	ORAI1	VAMP1	COLQ	FHL1	STIM1	LPIN1	HACD1	SPTBN4	CHRNA1	RYR1	MT-CO1	FUS	ALDOA	SYNE1	TPM2	EMD	SLC25A1	ANO5	SLC5A7	MYL2	CASQ1	MAP3K20	IFIH1	TRIP4	STAC3	ALG14	MYH7	PNPT1	HNRNPK	SLC18A3	TPM3	SYNE2	SNAP25	COL13A1	ACTA1	CPT2	HNRNPA2B1	LAMA2	TK2	MT-CO3
HP_INCREASED_ENDOMYSIAL_CONNECTIVE_TISSUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INCREASED_ENDOMYSIAL_CONNECTIVE_TISSUE	MYH7	GIPC1	COL6A3	COL6A1	NOTCH2NLC	MYOT	ANO5	LAMA2	SGCG	COL12A1	TOR1AIP1	COL6A2
HP_MUSCLE_FIBER_INCLUSION_BODIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_FIBER_INCLUSION_BODIES	NEB	LMOD3	TPM2	TPM3	PYROXD1	RYR1	KLHL41	MYH2	ACTA1	KBTBD13	GFPT1	NEFL	CFL2	ORAI1	MYOT	KY	ALG2	CRYAB	HNRNPA1	MYPN	TNNT1	KLHL40	DPAGT1	GMPPB	CASQ1	GNE	NDUFB3	FLNC	MYO18B	STIM1	ALG14
HP_MUSCLE_FIBER_TUBULAR_INCLUSIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUSCLE_FIBER_TUBULAR_INCLUSIONS	GMPPB	ORAI1	DPAGT1	CASQ1	STIM1	ALG2	GFPT1	ALG14
HP_CEREBRAL_CORTICAL_HEMIATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_CORTICAL_HEMIATROPHY	ACTB	ACTG1	TCTN3	MBTPS2	MYO5A	EHMT1
HP_SUBDURAL_HEMORRHAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SUBDURAL_HEMORRHAGE	ERCC6	ERCC8	GCDH	MMACHC	F8
HP_CEREBRAL_INCLUSION_BODIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_INCLUSION_BODIES	ATXN8OS	APOE	FBXO7	NR4A2	SNCA	PSEN2	PSEN1	ATXN2	EIF4G1	ADH1C	NHLRC1	PLA2G6	GIGYF2	RAB39B	ITM2B	MT-TT	ABCA7	CYLD	EPM2A	GBA	NPC1	GLUD2	APP	TOMM40	TBP	VPS35	PRDM8	PRNP	MAPT	HNRNPA2B1	GRN	HFE	C19orf12	LRRK2	VCP	TIA1	NPC2	PLAU	SNCAIP	SNCB	SORL1	MPO	TREM2	DNAJC13	VPS13C	NOS3	HNRNPA1
HP_LEWY_BODIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LEWY_BODIES	ATXN8OS	FBXO7	NR4A2	SNCA	MAPT	ATXN2	EIF4G1	ADH1C	GBA	GIGYF2	RAB39B	GRN	MT-TT	PLA2G6	C19orf12	GLUD2	LRRK2	TIA1	SNCAIP	SNCB	TBP	VPS35	DNAJC13	VPS13C
HP_ABNORMAL_DENTATE_NUCLEUS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_DENTATE_NUCLEUS_MORPHOLOGY	PDGFB	SLC20A2	WDR81	CP	CLCN3	FTL	PDGFRB	ERCC6	CYP27A1	ERCC8	DPM1	ATN1
HP_JUVENILE_ASEPTIC_NECROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JUVENILE_ASEPTIC_NECROSIS	ORC1	COL2A1	COMP	EXT1	EP300	LMX1B	KRAS	FZD2	CREBBP	COL1A1	TRPV4	FGFR1	TONSL	DVL3	UFSP2	SRCAP	COL1A2	WNT5A	SMAD3	DYRK1A	TRPS1	SIL1	ACTB	INPP5K	ACAN	ADAMTSL2	ATP7A	PHF6	ADAMTS2	FN1	TREX1	DVL1	ACTG1	UNC45A	SLC2A10	MATN3
HP_SCLERODERMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCLERODERMA	IGKC	UROS	HFE	IGHG2	POLD1	LBR	SLC12A3	CLCNKB	LEMD3	LMNA	PAH	UROD	WRN	SLC29A3
HP_IMMUNOLOGIC_HYPERSENSITIVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IMMUNOLOGIC_HYPERSENSITIVITY	TGFB1	TNPO3	ALMS1	IL12A-AS1	RUNX1	GAS1	LIFR	COMT	IL12A	FGF8	MLXIPL	FCGR2A	TBX21	CCDC28B	SRCAP	MTOR	IFT172	CSTA	HNMT	FOXP3	IL6ST	STAT5B	TBX1	TLR4	USP7	ARSL	DNASE1L3	GTF2H5	IL10	SEMA4D	SCN4A	SOX6	TDGF1	CTLA4	IGF2	TCF4	MED12	MMEL1	UNC45A	DOCK8	LIG4	IL4R	IGKC	PGM3	TTC26	SIK3	HLA-B	SLC27A4	IL13	ZIC2	TALDO1	CCL11	BICRA	PEX5	CDH3	ODC1	VPS51	ELN	CREBBP	CARD10	TGM5	SCGB3A2	ERAP1	SRSF2	HMGA2	CDSN	NODAL	IRF5	SPIB	TGIF1	CARD11	FGFR1	FOXP1	LMX1B	TNF	PLA2G7	ARVCF	GRHL2	IGHG2	PLCG2	FOXH1	UFD1	STAT4	UBAC2	BBS1	ERCC2	MUC7	ZNF699	CDKN1C	PSTPIP1	TRAIP	CASP8	CFTR	CHD1	JMJD1C	SPINK5	PLAG1	WAC	TBCK	BCL11B	KRT74	PTGER2	HLA-DQA1	NEK9	IL12RB1	IFNGR1	CBL	MEFV	HIRA	ALOX5	ARL6	GPR35	EP300	SATB2	C4A	PTCH1	MST1	STAT3	SPTBN1	JAK1	NOD2	MS4A2	TNFSF15	KIT	SIX3	ADA	GP1BA	IPO8	SOCS1	MIA3	KLRC4	HLA-DQB1	NKX2-1	GLI2	CDON	SDHD	CCR1	GP1BB	STXBP1	SUFU	NSUN2	GNB2	SHH	HLA-DPB1	HLA-G	NFKB2	FLG	DLL1	IL23R	ELOVL4	SEC24C	ALG9	GP9	RREB1	IDS	PEPD	ODAD3	TET2	IVNS1ABP	ADRB2	DDX41	COX4I2	FAS	AFF4	ASXL1	RBM8A	DISP1	RIC1	LRBA	CARMIL2	POU2AF1
HP_UNILATERAL_CLEFT_LIP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNILATERAL_CLEFT_LIP	SUMO1	KAT5	HYLS1	SMAD4	KIF7	GDF11	MED12	TAPT1
HP_UNILATERAL_CLEFT_PALATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UNILATERAL_CLEFT_PALATE	BMP4	KAT5	ARHGAP29	DLG1	TP63	GDF11	CDH11	SUMO1	DLX4	IRF6	MED12	NECTIN1	MSX1	CDH1
HP_NON_MIDLINE_CLEFT_LIP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NON_MIDLINE_CLEFT_LIP	TP63	KAT5	B3GALT6	FGFR1	CHUK	GDF11	DHODH	SMPD4	RSPO2	DDX59	IRF6	SPOP	CTNND1	SF3B4	HYLS1	SMAD4	DLX4	CDH1	GLI2	TAPT1	NECTIN1	WNT9B	HOXD13	PTCH1	GJA1	PIGN	FGF20	YAP1	SUMO1	NBN	KIF7	MED12	GREB1L	MSX1	ITGA8	TFAP2A	RET
HP_BILATERAL_CLEFT_LIP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_CLEFT_LIP	TP63	CHUK	NECTIN1	SMPD4	RSPO2	PTCH1	IRF6	SPOP	YAP1	CTNND1	DLX4	MED12	CDH1	MSX1	GLI2
HP_BILATERAL_CLEFT_PALATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILATERAL_CLEFT_PALATE	BMP4	ARHGAP29	CHUK	DLG1	NECTIN1	TP63	PTCH1	SPOP	YAP1	CTNND1	DLX4	IRF6	MED12	SLC26A2	CDH1	MSX1	GLI2
HP_NON_MIDLINE_CLEFT_PALATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NON_MIDLINE_CLEFT_PALATE	BMP4	KAT5	ARHGAP29	CHUK	DLG1	NECTIN1	TP63	GDF11	CDH11	PTCH1	SPOP	YAP1	CTNND1	SUMO1	DLX4	IRF6	MED12	SLC26A2	CDH1	MSX1	GLI2
HP_CONTRACTURES_OF_THE_JOINTS_OF_THE_UPPER_LIMBS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONTRACTURES_OF_THE_JOINTS_OF_THE_UPPER_LIMBS	TGFB3	IRF5	ITGB4	UNC80	MECP2	ALS2	PYROXD1	TP63	CDC6	RTTN	TWIST2	XYLT1	IL6ST	FLVCR1	EZH2	PAX3	HSPG2	SPRTN	ROR2	GTF2H5	PIEZO2	FBN2	TOR1A	SELENON	AMER1	SYT2	EMD	ERCC2	COL2A1	MMP2	LIFR	CANT1	MYLPF	IGHMBP2	WDR4	TPRKB	CHRNG	DDR2	LAMA2	HOXD13	NEFL	SLC29A3	SYNE2	ESCO2	LMNA	COL6A2	CRKL	SLC6A9	SMAD3	COL6A3	SLC26A2	PSTPIP1	TNNI2	CHST3	ERLIN2	PHGDH	KDM5C	ITGA7	SMC1A	DHODH	EED	NALCN	LAMC2	ERCC1	GLI3	EFNB1	WDR73	SMG9	SKI	MYH3	KY	LMBR1	WNT7A	CAV1	RAB3GAP1	FUS	SMOC1	ECEL1	MED12	NIPBL	FLNA	GJA1	GPKOW	MED25	POR	CCN6	AUTS2	PRDM16	MAP3K20	ALX3	PLOD2	NXN	ZDHHC9	RNU4ATAC	TGFBR2	ACTA1	BCOR	COL11A1	DVL1	SNRPB	DYRK1A	TNNT1	SVIL	PRG4	ALDH18A1	ERGIC1	GPC3	COL12A1	PLOD1	IDS	FGD1	ADAT3	SPTLC1	ASXL1	SIGMAR1	RTL1	CADM3	RERE	NLRP3	FERMT1	GMNN	FKBP10	SLC35A3	ADAMTS3	SIK3	RIPPLY2	COL17A1	GJB2	TPM2	DOK7	BMP4	ATR	PEX5	TNNT3	KCNK9	TGDS	EMG1	FGFR3	COL6A1	KRT16	CDH3	MBTPS2	NOD2	DLL3	LGI4	CLCF1	MEG3	PIGL	PLOD3	CCR6	ECE1	FBN1	FKTN	WNT5A	CRLF1	FDFT1	NUP88	PMP22	L1CAM	HACD1	COG5	TGFBR1	TRPS1	SYNE1	ANTXR2	TMEM222	LMX1B	DLK1	TUBB3	HLA-DRB1	CDT1	SRD5A3	PQBP1	PORCN	MYOD1	OCRL	POLR3GL	ORC1	KRT14	ORC4	KRT9	CAPN3	SMARCAD1	PITX1	NOG	CTCF	FBXW11	LARGE1	GDF5	LAGE3	COL11A2	TFAP2A	PSMB8	KAT6B	KRT1	SHH	PRKCZ	TBX3	RAPSN	ZMPSTE24	CTDP1	IDUA	UBE4B	EXOC6B	MESP2	UROS	TPM3	SUZ12	ACTG2	PTRH2	CCBE1	NSD1	NUP107	TMEM70	OSGEP	FZD2	KCNAB2	SETD2	FHL1	TBX15	C19orf12	LFNG	ERCC6	PLEKHG5	CNTN1	MMP23B	GDAP1	SLC39A13	SLC25A46	PDPN	ZNF407	ANO5	MYL2	GNB2	NAA10	MAPK1	UPF3B	MUSK	PTDSS1	B3GALT6	CCN2	CDC45	APC2	TBC1D2B	ALG3	ALX1	TMEM43	SPEN	MEGF10	FAT4	LAMB3	KIF5A	B3GAT3	PIK3C2A	CPT2	TP53RK	MORC2	NUP133	RPL10	SCARF2	PIGY	DVL3	TRPV4	RAB23	HS2ST1	CASZ1	TCTN3	ERCC5	SLC18A3	CUL4B	HINT1	MYBPC1	DHCR24	ARID1B	P4HTM	MAFB	BCR	SPG11	DMD	SLC39A8	LUZP1	KIAA0319L	HES7	IKBKG	ASXL3	SLC35A2	KIF22	TBR1	GPC4	POLR3A	PEX6	JAG2	MAP3K7	GABRD	PEX1	PYCR1	UBA1	SH3PXD2B	TMEM218	EXTL3	LAMA3	ORC6	DHX16	ADAMTSL2
HP_ABNORMALITY_OF_LOWER_LIMB_JOINT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_LOWER_LIMB_JOINT	ELN	OFD1	UNC80	MYO9A	AGRN	DDRGK1	RTTN	NDN	STUB1	XYLT1	EXOSC3	TRPV4	COL1A2	IL6ST	NKX3-2	KLHL41	FANCC	CEP120	BCOR	HSPG2	CHSY1	COL6A2	TGIF1	GABRA1	FBN2	EIF4H	RUNX2	TGFB1	IDUA	FANCF	MMP13	ERCC4	TTC26	FANCD2	LIFR	FBLN5	BMPR1B	MYLPF	DYNC2H1	PRMT7	CDON	CHRNG	RSPRY1	TBCD	FGFR1	EVC2	DMP1	COLQ	BICD2	ESCO2	LMNA	FGFR2	LTBP1	ARNT2	SLC6A9	ATP7A	PSTPIP1	SMC3	TBX4	CHST3	ERLIN2	BHLHA9	GMNN	RYR1	CLCN5	NRAS	B4GALT7	C19orf12	PUS3	FKBP10	FLNC	SMARCAL1	GLI3	AEBP1	CENPT	GFPT1	ATP6V1A	MAD2L2	FANCA	STIL	SKI	GALC	CLCN3	SCN2A	TONSL	WNT7A	SIX3	SPTBN1	DSP	KDM6A	DYNC2LI1	NIPA1	COL6A3	SMOC1	ECEL1	CD96	FLNA	PTCH1	SLC39A14	ZIC2	TELO2	CSPP1	PLOD2	GABRD	DISP1	GATA1	METTL27	SLCO2A1	RNU4ATAC	NPAP1	DHCR7	TGFBR2	CREBBP	GNPTAB	PTRH2	DYRK1A	HBB	FIG4	RPL13	ZPR1	ERGIC1	PKDCC	SLC35A3	COL12A1	PLOD1	NEDD4L	SCN1A	ENPP1	LONP1	BAG3	KAT6B	RAD21	CHRM3	PIK3R2	GALNS	HPGD	COL2A1	VPS13B	SNRPN	TBX1	SAMD9L	DHODH	COL9A1	NGLY1	FGFR3	GDF5	MEGF8	UBE3B	SIK3	ATAD1	OCA2	FKBP6	BRD4	FGF8	GDF6	COL9A2	RAB18	PIGL	NSD1	SLC26A2	NT5C2	CSGALNACT1	RETREG1	ERLIN1	GAS1	HCN1	MAGEL2	COL13A1	WDR19	BUD23	MKKS	ANAPC1	LMBR1	PTPN22	DPAGT1	FANCE	DNAJC30	SLC2A10	SCN9A	DLL1	LGI4	FLI1	CLTCL1	SOX9	VPS37D	NOG	FBN1	LOXL3	MATN3	EP300	IARS2	FDFT1	UCHL1	HACD1	HYAL1	MASP1	PHF6	OSGEP	CCDC8	PIGT	SPAST	DSTYK	TFE3	EIF2AK3	SNORD115-1	LMX1B	ABCD1	GPHN	PSAT1	HOXD13	COL6A1	AP4M1	COL11A1	IFIH1	ORC6	XRCC2	FZD2	IFT172	WDR35	KIAA0753	PYCR1	AFF4	FBLN1	RECQL4	BRCA1	TNNT3	LRP4	PYCR2	SERPINH1	OCRL	COL1A1	CANT1	ORC1	FKRP	RINT1	DYNC2I1	TPM2	HDAC8	ALDH18A1	ORC4	FLNB	COMP	DONSON	ASAH1	SLC6A5	CYP7B1	AIFM1	CTBP1	STAG2	PCDH19	CNTNAP1	MBTPS2	C12orf57	SDHA	PSAP	HGD	GLB1	COL5A2	FGF13	EXT1	SLC16A2	UGP2	MYH8	ACTA1	AP4B1	NALCN	MAFB	SOD1	GLRB	FANCB	PPP2R5D	GLI2	CBS	VDR	UFD1	GORAB	GBA2	RMRP	BRAF	BPNT2	SYT2	GPX4	HIRA	PALB2	INPPL1	CHAT	FHL1	IHH	ALAD	COG1	MYH3	ATP6V1E1	ARFGEF2	FANCG	GLI1	PTPN2	SELENOI	FN1	GAN	UBR7	PITX1	CUL7	SHOX	SLC25A46	SHH	TDGF1	MAP3K7	GJB2	GSC	REEP1	MYL2	RAB23	SEC24C	NEB	PAFAH1B1	ARF1	CDC45	COL9A3	COL7A1	SLC12A2	NODAL	KIF1A	APC2	AFF3	TBC1D2B	CPLX1	NIPBL	KIAA0586	MAP2K1	VAMP1	BPTF	MEFV	SDHB	PTH1R	DYM	SPTBN4	IL2RB	GMPPB	GPC6	TRIP11	SLX4	DNAJC21	PIGY	DVL3	COLEC11	BAZ1B	SMO	MAN2B1	EBP	NOTCH2	TCTN3	MIR140	INPP5K	HS6ST1	EFL1	CRTAP	PRKG2	ATP6V0A2	SHROOM4	SCN1B	SELENON	FLT4	TRAPPC2	WNK1	TNFRSF1A	HERC2	UBE2T	HACE1	GEMIN4	SLC35A2	PTEN	JUP	KRT5	RTN2	SEC31A	GPC4	TPM3	TRAPPC12	KIF7	SF3B4	RFWD3	ANKLE2	MFN2	GRIA3	MAP1B	DAG1	RREB1	ATP6AP2	CLIP2	TRIM2	PIEZO2	EXTL3	GTF2IRD1	GJB6	RBM8A	SPART	TGFB3	COMT	EXOC6B	COLEC10	PRKACB	RPL10	CDC6	RAD51	SFRP4	HK1	DPM1	GTF2I	NCF1	TIMM8A	DYSF	ALG2	YY1	TOR1A	AMER1	SATB2	MMP2	SLC25A1	SERPINF1	GNPTG	ZMPSTE24	EXT2	KANSL1	FOXH1	UBE3A	DDR2	SLC29A3	MYO18B	KY	FANCL	NTRK1	FA2H	SMAD3	LARGE1	HOXA11	ADGRV1	CHD4	ITGA7	FUT8	LMOD3	SLC18A3	COL10A1	SLC10A7	ARL6IP1	ZEB2	STAT4	BCL7B	GABRG2	AP4S1	MKRN3	MYH7	TBC1D7	NEPRO	GJA1	POR	CCN6	ATRX	AP4E1	MAP3K20	CYP3A4	ARID1B	PIGN	OBSL1	POU3F4	POMT1	LMNB2	IFT52	NSD2	DVL1	SNRPB	AKT1	ALG9	FANCI	SVIL	SMC1A	ALG14	GPC3	COL5A1	EFEMP2	FGD1	TMEM251	USP9X	SIL1	RAB3GAP2	RFC2	PRR12	KIF22	BICRA	VCP	SLC5A7	ATR	MCOLN1	PHEX	AP3B1	CYP2R1	ANO10	RAD51C	NOD2	CTDP1	GLRA1	EVC	SLC34A3	CDT1	THRA	WNT5A	CFL2	SALL1	SPG11	ADAMTS2	COG5	ANKRD55	TMTC3	IL2RA	PEPD	ARSB	PSMD12	ERCC1	NF1	SDHAF1	BRCA2	SDHD	SRD5A3	TRPS1	GP1BB	CENPJ	SNORD116-1	WASF1	YWHAE	FGF9	MLXIPL	TRIM8	CAPN3	KRAS	PMP22	MCTP2	APC	ABCC6	EIF4A3	GJC2	TMEM67	LIMK1	NLRP3	PSMB8	VAC14	PUF60	BGN	KMT2D	KLHL9	ZNF469	KIF5A	ARVCF	ACAN	SNAP25	KAT6A	VPS33A	IDH1	ZNF699	CHMP1A	NONO	LAMB2	POLR1A	POMT2	SETD2	TBX15	CD247	NANS	B3GALT6	ERCC6	TUBB3	EYA1	CTC1	MYOT	TOR1AIP1	GUSB	MIA3	ZNF407	ANO5	CLCN7	STXBP1	GNB2	PNPT1	PORCN	PTDSS1	TBL2	IFT57	NSDHL	PWAR1	UFSP2	PRKACA	MPZ	TIMM22	HRAS	FANCM	FGFRL1	PI4KA	TNNI2	THOC2	HTT	RPS15A	CYP27B1	ZFYVE27	CCDC47	TMEM270	BRIP1	ZSWIM6	B3GAT3	CPT2	ZBTB20	NDUFAF6	STX1A	RAB33B	SCARF2	AARS1	ERMARD	ATL1	MMP1	COL3A1	HS2ST1	CHST11	ADAMTSL2	SYNE1	CAPN1	P4HTM	JMJD1C	COX8A	GTF2IRD2	MTX2	SIX1	GFM2	LETM1	SLC39A8	SLC35D1	PWRN1	MAP2K2	TGFB2	IPO8	CTNS	ZC4H2	EZH2	STX1B	JAG2	CARS1	DPYSL5	CYP19A1	UBA1	SH3PXD2B	EIF5A	TNFSF11	ADGRG1	SLC52A3	NFIX	DHX16
HP_JOINT_CONTRACTURES_INVOLVING_THE_JOINTS_OF_THE_FEET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_JOINT_CONTRACTURES_INVOLVING_THE_JOINTS_OF_THE_FEET	MYH3	MMP2	TBC1D2B	TGFB3	LIFR	ERLIN2	MYLPF	SCARF2	GLI3	FLNA	ERCC1	CHRNG	FHL1	NT5C2	MMP1	PIGN	HSPG2	SLC29A3	EIF5A	BCOR	FGFR3	COL7A1	PIEZO2	PHF6	PPP2R5D	DSP	FBN1	JUP	NOD2	PSMB8	IPO8	AMER1
HP_ABNORMAL_MAST_CELL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MAST_CELL_MORPHOLOGY	SRSF2	RUNX1	LYST	ASXL1	TET2	KIT	CBL	CYP26C1
HP_DEVIATION_OF_TOES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DEVIATION_OF_TOES	FGF9	MLXIPL	NTNG2	SRY	ZMIZ1	TP63	TRMT1	CLCN4	GBA	KDM4B	CKAP2L	GTF2I	NCF1	ZNF41	EIF4A3	PSMD12	CHSY1	MED13	C2CD3	DOCK3	GDI1	LIMK1	FTSJ1	YY1	MED27	EIF4H	FGFR2	CLCN3	PSMB8	TCF12	XYLT1	TWIST1	RSPRY1	SLC29A3	ACTL6B	BMPR1B	TNRC6B	SLC9A7	USP7	COL1A2	CREBBP	KAT6A	EMC10	CNKSR2	DPYSL5	ERF	TANC2	CHST3	PTPN23	NONO	TRIP12	DDX6	BCAS3	AEBP1	PPP1R15B	FHL1	MADD	MAPK8IP3	KCNMA1	DMD	PALS1	ZEB2	ARHGEF6	BCL7B	NUP107	B3GALT6	IQSEC2	ACSL4	FBXW11	WDFY3	ACTL6A	KCNN3	BMP2	BPTF	SYP	TCF20	HOXD13	DYRK1A	ZNF711	TSPAN7	DACT1	BCORL1	RLIM	DLEC1	MED12	METTL27	TBL2	ITCH	FGFR1	CCDC32	USP9X	AKT1	MYT1L	HS2ST1	ANKRD17	WWOX	ALG3	SRCAP	IL1RAPL1	SATB1	ELN	TMEM270	SLC12A2	RNF6	RFC2	HTT	UBR7	COG8	KMT2E	DLG3	B3GAT3	FKBP6	MID2	STX1A	GRIA4	SATB2	SCARF2	HPDL	KCNJ2	FLNA	FGFR3	BAZ1B	RBBP8	CHST11	FRMPD4	ARX	BUD23	ERMARD	ALG13	RAB39B	ZNF469	LMBRD2	STEEP1	DNAJC30	TCF7L2	PUS7	GDF5	ATL3	CDKL5	FLI1	GTF2IRD2	KCNH1	SVBP	SYNCRIP	PIGH	AGTR2	VPS37D	SLC16A2	EP300	KCNJ5	AGO2	SALL1	HOXA13	HEPHL1	TRMT10A	MYH3	UPF3B	RNF2	WASF1	RPS6KA3	PTEN	IL11RA	NTNG1	SPTBN1	SF3B4	CNOT3	PTCHD1	HUWE1	TGFBR2	USP27X	PRDM5	KAT8	CLIP2	ACVR1	SETD1A	ZNF81	PAK3	TRAPPC4	MECP2	GTF2IRD1	ATP6V1B2	JARID2	HCFC1	CWC27
HP_VITAMIN_B12_DEFICIENCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VITAMIN_B12_DEFICIENCY	AMN	CUBN	ABCD1	LMBRD1	HLA-DQA1	GUCY2C	HLA-DQB1	GRM7	SLC19A1
HP_ABNORMALITY_OF_VITAMIN_METABOLISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_VITAMIN_METABOLISM	AKR1D1	FASLG	SAR1B	ELN	EFL1	ALDH18A1	ENPP1	ABCD4	TTPA	PRKCD	CYP7B1	HCFC1	MCEE	LMBRD1	CTNS	RASGRP1	FARSB	SIM1	SEMA4D	GRM7	CYP2R1	MMADHC	SUCLG1	MMACHC	TCF4	DZIP1L	MTHFD1	SUCLA2	PRDX1	SLC30A10	KL	SRP54	SLC52A1	DLAT	OTUD5	MMP1	CUBN	LRP5	CASP10	ACOX2	BCO1	DMP1	CYP27B1	ACSF3	COL7A1	CLCN5	VDR	GALT	ZNF699	SLC34A1	MTR	ABCD1	HLA-DQA1	FAS	SLC37A4	SLC34A3	SLC19A1	CCND1	SLC10A1	AMN	MMAA	RNF13	GPR35	CYP7A1	MST1	FBLN5	PTH1R	OCRL	SPTBN1	TTR	MMAB	AMACR	TJP2	MTRR	MMUT	GUCY2C	HLA-DQB1	FGF23	MTTP	IARS1	UROS	GATA1	SLC51B	RPS10	RPL11	CYP3A4	FTCD	SBDS	DNAJC21	GALNT2	ALDH4A1	CBLIF	PKHD1
HP_ABNORMALITY_OF_VITAMIN_D_METABOLISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_VITAMIN_D_METABOLISM	ELN	EFL1	HLA-DQA1	ALDH18A1	SLC37A4	SLC34A3	ENPP1	CLCN5	SLC10A1	GPR35	CTNS	MST1	FBLN5	PTH1R	OCRL	FARSB	SEMA4D	CYP2R1	TCF4	DZIP1L	HLA-DQB1	FGF23	COL7A1	MTTP	IARS1	UROS	GATA1	KL	SLC51B	RPS10	SRP54	RPL11	CYP3A4	MMP1	SBDS	LRP5	ACOX2	DNAJC21	DMP1	CYP27B1	GALNT2	VDR	GALT	SLC34A1	PKHD1
HP_LOW_LEVELS_OF_VITAMIN_D	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOW_LEVELS_OF_VITAMIN_D	ELN	COL7A1	EFL1	MTTP	UROS	HLA-DQA1	ALDH18A1	SLC37A4	GATA1	SLC51B	RPS10	SRP54	SLC10A1	RPL11	MMP1	SBDS	GPR35	ACOX2	DNAJC21	CTNS	MST1	GALNT2	FBLN5	PTH1R	OCRL	GALT	FARSB	SEMA4D	TCF4	DZIP1L	PKHD1	HLA-DQB1	FGF23
HP_ABNORMALITY_OF_VITAMIN_E_METABOLISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_VITAMIN_E_METABOLISM	AKR1D1	DNAJC21	EFL1	MTTP	MST1	SLC30A10	SEMA4D	SLC51B	TTPA	SRP54	TCF4	DZIP1L	SBDS	GPR35	CYP7A1	PKHD1
HP_POLLAKISURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POLLAKISURIA	NBN	FMR1	BNC2	FAR1	ALDH18A1	DYSF	FA2H	HOGA1
HP_DYSURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSURIA	IKZF1	HOGA1	BNC2	LAMA3	LAMB3	CISD2	HMBS	APRT	ALMS1	HPRT1	CARMIL2	HLA-B	WFS1	AIP	AGXT	GPR101	SPART	LAMC2
HP_ANURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANURIA	MYH11	CFHR1	CD46	C3	ACE	CFB	REN	AGTR1	CFI	CFH	THBD	AGT	CFHR3
HP_OLIGURIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OLIGURIA	CCN2	LPIN1	CCR6	IRF5	HLA-DRB1	RYR1	CAV1	MT-CO3	APRT	MT-CO1	SLC25A20	DZIP1L	PKHD1
HP_NEOPLASM_OF_THE_THYMUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_THYMUS	CDKN2B	PTEN	CDKN1B	AKT1	CDKN2C	CDKN1A	MEN1
HP_LIVER_ABSCESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIVER_ABSCESS	CYBA	IGKC	NCF2	IGHG2	IRAK4	NCF1	CYBC1	CTSC	PKHD1	CYBB	NCF4	ABCB4
HP_ABNORMAL_BLOOD_PHOSPHATE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_PHOSPHATE_CONCENTRATION	GABRA3	FAM111A	ENPP1	CDC73	ALPL	DMP1	TBCE	SLC34A1	GNAS	CYP27B1	FAH	HRAS	SLC9A3R1	ABCC6	CTNS	AP2S1	VDR	CYP2R1	FGF23	PRKAR1A	CACNA1S	SLC2A2	GCM2	NDUFAF6	KRAS	KL	ALDOB	GALNT3	NRAS	PTH	OCRL	RYR1	PHEX	CLCN5	CASR	PGAP2	MT-CO3	PDE4D	STAT6	SNX10	SLC34A3	MEN1	INPPL1	GATM	TCIRG1	EHHADH	CLCN7	LPIN1	KCNJ18	COL4A3	MT-CO1	FAM20C	GNA11	TNFSF11	TNFRSF11B	PTH1R	CYP3A4	GNAS-AS1	NAB2	STX16	HNF4A
HP_ABNORMAL_CALCIUM_PHOSPHATE_REGULATING_HORMONE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CALCIUM_PHOSPHATE_REGULATING_HORMONE_LEVEL	NF1	AIRE	CDC73	RET	TBX1	CASR	CDKN2B	GNAS	MEN1	CYP27B1	TRPV6	SDHAF2	SLC25A11	OCRL	MAX	CYP2R1	FH	PRKAR1A	SLC34A3	CDKN1A	MDH2	SDHB	PHEX	GCM2	PDE4D	KL	KIF1B	SDHA	CDKN1B	PTH	CYP3A4	DLST	GNAS-AS1	TMEM127	SDHC	FAM20A	SOST	STX16	CDKN2C	CLDN19	VDR	SDHD	RNU4ATAC	VHL	SLC34A1	ADORA2A
HP_INFLAMMATORY_ABNORMALITY_OF_THE_EYE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INFLAMMATORY_ABNORMALITY_OF_THE_EYE	FASLG	IL12A-AS1	PLEC	DKC1	IL12A	TNFAIP3	HDAC8	EPCAM	ICOS	STUB1	IRF4	HLA-B	NLRP3	PRKCD	TKT	IL6ST	GNA11	CD79A	LBR	CTLA4	ERF	BTNL2	MBTPS2	BLNK	TCF3	VPS33A	TCF4	GSN	PSMB8	ERCC3	ZEB1	MPLKIP	MAB21L1	USB1	PTPN22	ERAP1	TP63	MMP1	FOXP1	CYBB	TNFRSF13C	DDB2	RAG2	CTC1	CASP10	NCF2	SAMD9	UROS	SLC29A3	CAPN5	GTF2E2	WAS	CYSLTR2	KAT6A	FGFR3	RNF125	MLX	STAT4	ALOX12B	ERCC6	UBAC2	ERCC2	TGM1	SMC3	TBX4	ERCC1	CD27	GNAQ	TFRC	XPA	LRRC8A	MEFV	IGHM	NPM1	CD247	AP1B1	ALOXE3	SREBF1	GNAS	STX11	GJB2	FGF10	HLA-DPA1	PTPN2	XPC	SCN9A	IGSF3	PSMB4	APOE	RTEL1	BIRC3	CR2	IL6	MIF	BAP1	GTF2H5	BTD	CCR1	TARS1	PIGN	ERCC4	CST6	IGLL1	NHP2	PARN	NCF4	LRBA	SMC1A	CD79B	FBN1	IKBKG	COL7A1	LACC1	AIRE	PIK3R1	NCF1	RAD21	CYBA	PLG	NIPBL	IKZF1	TRAF3IP2	FERMT1	EGFR	FOXC2	TLR4	ERCC8	COL4A6	DNASE1L3	PAX6	RASGRP1	IL10	SEMA4D	CD19	PAX1	IL2RB	TNFRSF1A	PSMB9	BRD4	SLC39A4	ERCC5	CERS3	GJB6	RNF113A	PLCD1	SF3B1	COL4A5	BLM	WIPF1	TERC	REV3L	IL12B	NOD2	RAG1	NLRP1	ABCA12	HLA-DRB1	FAS	ATOH7	UROD	IFNGR1	CLTCL1	NOP10	POLH	MSMO1	CRLF1	GPR35	FGFR2	BTK	IARS2	ADAM17	C4A	PRTN3	MST1	ANKRD55	IL2RA	COL17A1	SLC35C1	HLCS	TNFRSF13B	HLA-DPB1	KLRC4	ALDH3A2	NTRK1	MTTP	PNPLA1	GATA1	NIPAL4	TINF2	WRAP53	HLA-A	TERT	IL23R	PLXND1	STX16	ST14	BCL10	CYBC1	AEBP1	MALT1
HP_EPISCLERITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPISCLERITIS	SLC29A3	NLRP3	MBTPS2	DNASE1L3	PSMB8
HP_ABNORMALITY_OF_THE_SUPRAORBITAL_RIDGES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_SUPRAORBITAL_RIDGES	PEX1	IDS	CITED2	CHD8	PIK3CD	BRAF	PEX11B	ESCO2	ABCC9	NKX2-5	MAP2K1	MAP2K2	AP1G1	NKX2-6	PEX3	FGFR3	PHF6	PEX10	PEX13	LIG4	ANTXR1	CAV1	PEX5	PRR12	PEX26	RBM10	GATA4	FGFR2	HBA2	LZTR1	TAF1	OPHN1	RAB23	KNSTRN	FBXO31	NEU1	KRAS	KDR	ARX	GRIA3	PPARG	GATA5	FLNA	GHR	ZFPM2	CAVIN1	SLC25A24	HDAC8	PEX14	GDF1	TCF12	SEC23A	EDA	FOS	JAG1	SPOP	ERCC4	RBMX	KCNJ8	FHL1	FREM1	PHF8	AGPAT2	SHANK3	SOX11	PEX2	PEX6	MYOD1	TRAPPC9	PEX19	PIK3R1	SP7	PDGFRB	TWIST1	KIF11	PITX2	GJA5	PEX12	MAP3K7	BSCL2	TTC37	FGFR1	NSUN2	GATA6	UBE2A	ZSWIM6	ZIC1	PTH1R	PAK3	LAS1L	PPP1R21	TBX1	PSMC3	SUZ12	FLT4	RPS6KA3	MASP1	PRMT7	PEX16	HBA1
HP_PERIORBITAL_EDEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIORBITAL_EDEMA	NPHS1	GAPVD1	MLXIPL	TBC1D8B	XPNPEP2	CD2AP	AIP	ELN	TMEM270	GTF2I	SUMF1	ACTB	CTLA4	NCF1	NUP133	KCTD1	RFC2	ZNHIT3	EMP2	LIMK1	PIEZO1	EIF4H	ACTG1	MAGI2	GSN	GNPTAB	NUP93	ANTXR1	NUP85	TNFRSF1A	COL1A1	FKBP6	PSMB9	WT1	STX1A	POMP	ABCC9	PAX2	PEX5	NUP107	BAZ1B	SMCHD1	DUX4	RIN2	MYO1E	ADAMTS2	KPTN	CDH11	COL4A3	TGFBI	FRMD4A	BUD23	KAT6A	CCBE1	COL5A2	DNAJC30	FOXG1	SNX14	GPR101	NPHS2	COQ8B	GTF2IRD2	SOX18	VPS37D	KIF1A	SHANK3	BCL7B	PRTN3	PIK3CD	APOL1	MED12L	HLA-DPA1	SPTBN1	KNSTRN	PSPH	PTPRO	SLC35C1	NUP37	NUP205	IGSF3	PSMB4	SLC29A3	HLA-DPB1	COL5A1	ACTN4	FRG1	DNMT3B	PLCE1	ARHGAP24	CRB2	CAMTA1	ARHGDIA	TRPC6	ANLN	ANKFY1	METTL27	TBL2	CLIP2	INF2	PEX2	GTF2IRD1	LTBP4	PTPN22	MYD88	NUP160
HP_PALPEBRAL_EDEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALPEBRAL_EDEMA	SOX18	XPNPEP2	AIP	KIF1A	SHANK3	ACTB	PIK3CD	KCTD1	MED12L	ZNHIT3	SPTBN1	KNSTRN	PSPH	ACTG1	SLC35C1	GSN	GNPTAB	ANTXR1	FRMD4A	SLC29A3	COL5A1	COL1A1	ABCC9	FRG1	DNMT3B	PEX5	CAMTA1	SMCHD1	DUX4	RIN2	ADAMTS2	KPTN	CDH11	TGFBI	KAT6A	PEX2	COL5A2	FOXG1	SNX14	GPR101
HP_FEMORAL_HERNIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FEMORAL_HERNIA	FANCB	ADAMTSL2	PTDSS1	FZD2	ATP7A	DIS3L2	ADAMTS2	COL1A1	TRIP11	TBX1	DVL3	SLC26A2	SMAD4	DVL1	COL1A2	WNT5A	SLC2A10	EHMT1
HP_ABNORMAL_LOCALIZATION_OF_KIDNEY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LOCALIZATION_OF_KIDNEY	KAT5	MLXIPL	SRY	AKT3	RTTN	ARID2	GATA1	RAD51	RIPK4	XRCC4	RBM8A	MNX1	HRAS	MCTP2	BRAF	GTF2I	FANCC	APC	NCF1	SPECC1L	LIMK1	EIF4H	RPL18	RPS17	RPS7	FANCF	HMGA2	TBX22	ERCC4	PUF60	SLX4	FANCD2	KMT2D	RBM10	RPS28	DDX59	KRAS	NRAS	FANCI	RPL35	SALL4	MYCN	SMARCA4	KNSTRN	CFAP418	SEMA3E	CHD7	RPL5	ESCO2	HOXD13	JAM3	COLEC11	FANCL	CCBE1	RPS27	THOC6	DDB1	FANCE	FANCA	SC5D	DACT1	WAC	VANGL1	USP9X	SOX4	SMARCB1	DKC1	PALB2	FGFR1	POR	SMARCC2	COLEC10	HNRNPU	RPS20	MAD2L2	ZEB2	BCL7B	TBC1D20	CHUK	RPL27	FANCG	ARID1A	DSE	KDM6A	DDX6	RPL35A	RPS26	PIK3R2	RPS10	SMOC1	NIPBL	SOX11	HNF1B	SMARCE1	SMS	ARID1B	RPS15A	GNB2	RAF1	RAB18	GREB1L	PORCN	METTL27	TBL2	FANCB	ZIC3	SNRPB	DYRK1A	MAFB	WT1	CHN1	PBX1	FANCM	AFF3	CCNQ	RPL15	DHCR7	FGFR2	PIK3CD	GLI3	LEMD3	ELN	STAG1	RAB3GAP1	TMEM270	BRIP1	AFF4	DYNC2LI1	RECQL4	RFC2	FAT4	RAB3GAP2	DPF2	RBBP8	ADAMTS3	BICRA	FKBP6	STX1A	PTPN11	SMARCD1	BAZ1B	RAI1	RPL11	SON	CHST14	MAP3K7	BUD23	RPL26	RAD51C	DNAJC30	DNA2	NRIP1	CD96	GTF2IRD2	FLII	RPS24	CCND2	VPS37D	UBE2T	DEAF1	RARB	STRA6	ADA2	RPS19	PAX2	DSTYK	SALL1	SSR4	FUZ	ZMYM2	RPL31	SPINK5	RFWD3	TCTN3	UBE2A	RPS29	BRCA2	TSR2	XRCC2	IQSEC2	CLIP2	EXTL3	GTF2IRD1	BRCA1	CAPN15	LRP4	CWC27
HP_COGNITIVE_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COGNITIVE_IMPAIRMENT	IL12A-AS1	NOTCH2NLC	TARDBP	IL12A	ECM1	TIMMDC1	LZTFL1	MT-TE	STUB1	APP	AIFM1	ABCD1	OPA3	MT-ND5	SUMF1	PEX3	CHCHD10	PDE8B	VCP	GABRA1	DCAF17	ATXN1	CYP27A1	CCNF	PRNP	MTHFR	CHRNA2	RNASEH1	ERAP1	CTSD	TUBG1	TWNK	MT-TK	SMARCE1	REEP2	HTT	WDR4	ALOXE3	SLC5A7	MT-CO1	NEFL	SPG7	C19orf12	TRAF7	KCNT1	COG2	MT-ND1	ASAH1	POLG	SLC18A2	TREX1	STAT4	CNTNAP2	TRPM7	ARV1	SDHD	SQSTM1	PSEN1	RTN4R	CDH23	DNMT1	SDHC	ATP6V1A	ATP1A2	DNAJC6	PDGFB	MT-TF	GALC	PEX6	PSAP	SCN2A	TOMM40	MAPT	SMC1A	ATP1A3	IBA57	SPTBN1	PLP1	NOTCH3	SERPINI1	TMEM106B	PLA2G6	CSTB	ALMS1	BRAF	PPP2R2B	PDGFRB	MMACHC	FUS	GJC2	GRID2	SPG21	PRKACA	PEX12	UBA5	EPCAM	ARMC5	POLG2	ATXN3	GLB1	NPHP1	BDNF	GTPBP3	GABRD	MT-TL1	TERT	AKT1	GABRB2	NPC2	MOG	FKTN	GRN	MYO1H	SCARB2	VAMP1	LRRK2	PEX16	USF3	SNCA	ALDH18A1	PIK3CA	PKHD1	SLC44A1	CENPJ	IDS	CST3	DAOA	PRKN	SCN1A	CHRM3	NHLRC1	AUH	KRT83	ATXN7	FAS	ERF	GLUD2	SLC1A2	FMR1	MT-TC	KCNA2	AARS1	VPS13C	SNORD118	B3GALNT2	PTS	CHMP2B	MSH2	PEX26	SLC25A13	SYNJ1	CSF1R	CREBBP	TBK1	GBA	KCND3	DGUOK	ACTL6B	HIBCH	GDF3	CABP4	ROGDI	MTRFR	RRM2B	PDCD10	HCN1	KLLN	GBA2	GCH1	FGF14	MBTPS2	MT-CYB	PRKRA	SCN9A	CLCF1	VPS13A	PEX14	NR4A2	ARSA	GRIN2A	EP300	TUBB2B	C4A	GABRA5	MARS2	TNFSF4	HTRA1	CCDC78	LYST	CUX2	CLMP	COL18A1	SPAST	SLC1A3	LIPN	XPA	CNKSR2	PARS2	NFIA	APOL2	NECAP1	BBS5	CLTC	ITGA7	HLA-B	RNF216	MATR3	GLA	GJB2	PORCN	MT-TW	MT-ND6	CACNA1A	ABCA12	TREM2	ABCA7	ERCC3	QDPR	KCTD7	ATG5	SCO2	PCDH19	PINK1	CEP152	SDHA	TBP	GSN	ATN1	LIG3	NAGA	NIPA1	GM2A	GNAS	JAM2	PHOX2B	HNRNPA2B1	GABRA2	OCRL	MLH1	DSG4	CUBN	RIN2	UGT1A1	IRAK1	FTL	GABRB3	DNAJC13	UBAC2	AASS	CENPE	EIF2B2	ATXN2	AP5Z1	HLA-DQB1	SLC37A4	ERCC8	ATXN10	CP	MFN2	SEMA4A	SMARCB1	PRDM8	NF1	MT-CO3	CACNA1G	TSC2	SUFU	SOST	GDF5	CCR1	HGSNAT	CLN6	KCNC1	NDUFB8	SLC30A9	PMS2	NPRL3	ERCC4	NDUFA6	COQ2	TTC19	NOS3	XPC	CFH	PAH	SMC3	FBN1	PEX1	SYNGAP1	HSD17B4	PEX11B	MT-TT	GMPPB	DCC	NUP85	DDB2	CELF2	NAGS	HSD17B10	SDHB	KMT2A	MT-TS2	CTSF	XPR1	PEX5	DMD	CLN8	KMT2B	NIPA2	MYORG	HEPACAM	BAP1	ATM	L1CAM	GABRG2	ACSF3	TUBA4A	EPRS1	MT-ATP6	RBM28	PLK4	RMRP	IDUA	PANK2	CFHR3	CHRNA4	PLAA	ATP13A2	SCN1B	SEC61A1	LTBP4	PDE11A	PDE10A	FRRS1L	POMT2	HTRA2	IRF6	PTEN	PEX2	P2RY11	WDR45	C9orf72	SPG11	FGF13	TGM1	SLC25A15	SYN2	TRAIP	TK2	ROBO3	TTC8	TTC37	ERCC6	PSEN2	ADAMTSL4	DHDDS	CCM2	WDR73	ERCC2	EIF2B3	SLC7A7	PRKCG	HLA-DRB1	RAB27A	DALRD3	PNKP	UBAP1	TSC1	ALS2	YY1	OPA1	BBIP1	POLR3K	SRCAP	SLC2A1	DNM1L	PARK7	LAMP2	APOL4	TIMM8A	KRIT1	SCN3A	NTRK2	DZIP1L	SZT2	WFS1	SDCCAG8	GALK1	MT-TH	ACTB	SPP1	TPRKB	TMEM240	HFE	MEN1	GDF6	USP8	ADA2	GALT	LAMA2	FA2H	YWHAG	TSFM	ADGRV1	TBCK	NAGLU	SPTBN2	MTOR	MEOX1	SGPL1	RPS20	POMK	CLN5	APTX	DARS2	MYH3	KCNB1	FGFR3	AMACR	SLC25A4	IFT140	PODXL	MT-CO2	FLNA	ATP7B	CYP2U1	TIA1	NDUFAF3	CTSH	ZFYVE26	GRIN2D	ARL6IP6	TUBB4A	MYD88	TLR3	EIF2B1	EIF2B4	FBXO7	HEXB	DRD3	GPC4	FGD1	PRKAR1B	CHD2	SPTLC1	SIGMAR1	CISD2	COA3	ALG13	CYLD	MLH3	CLN3	TLR4	EEF1A2	TGFBR2	MICOS13	MECP2	NPRL2	PNPLA6	GDNF	EIF2B5	KRAS	PRDX1	GCDH	PPT1	ERCC5	APOE	MAG	FKRP	SDR9C7	MFSD8	CEP120	ADD3	PLAU	ITM2B	MPO	LRPPRC	CTDP1	DSTYK	GBE1	PRKAR1A	SLC2A3	NRAS	AFG3L2	CYFIP2	COL4A1	IFNGR1	PMPCA	GIGYF2	RAB39B	SLC13A5	COASY	DNM1	CYP4F22	EPM2A	BMPR1A	HCRT	EIF4G1	HEXA	FAN1	POMGNT1	CHRNG	DEPDC5	SCN8A	ATP6V0A2	SDHAF1	IL23R	DCTN1	NKX6-2	MT-TQ	MT-ND4	EDN3	AP3B2	TTPA	GNPTAB	ITPR1	LAMA1	ZNF365	ATR	XRCC4	CFHR1	MT-TV	TYROBP	SURF1	GDAP2	LAGE3	BBS12	KARS1	GNE	CHI3L1	SLC7A6OS	HTR2A	NUS1	NF2	JPH3	LARS2	DLAT	SLC20A2	DCX	SMO	SNCAIP	SNCB	RBM12	CDK19	FAR1	NUP107	NIPAL4	MCOLN1	OSGEP	MEFV	UBTF	CRLF1	DNAJC3	ALOX12B	PEX19	NBN	CTC1	PTPN22	NDP	UBQLN2	VPS37A	CACNA1B	SPRED1	BSCL2	TYMP	SORL1	RBBP8	CTNS	ATXN8OS	WWOX	SEC23B	MT-RNR1	KRT81	POMT1	PI4KA	COMT	HMBS	COX6B1	CERS1	MAOA	IL10	SIM1	PEX10	PEX13	KIF5A	ATRIP	PPP3CA	TP53RK	CRH	NUP133	PMS1	TINF2	TRAK1	COL3A1	AARS2	LMNB1	HNRNPA1	MTFMT	PCNT	MT-TP	ADH1C	MSH6	PRICKLE1	ABCA5	TP53	KRT86	SPART	FGF12	ATP6V1E1	NPC1	BBS10	LARGE1	IKBKG	SULT2B1	VPS35	KLRC4	TTR	CHRNB2	CFAP43	NDUFS2	STX1B	DNAJC5	PLEKHG4	UCHL1	SPR	UBA1	CAMTA1	MAPK10	HNF4A	METTL23	MTO1	MAGEL2	STARD7	CYP7B1
HP_NEOPLASM_OF_THE_HEART	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_HEART	PRKAR1A	PRKACA	TSC1	SUFU	PDE11A	MYLK	PTCH1	PDE8B	MYH8	TSC2	SOX6	PTCH2	IFNG	ACTG2	LMOD1	MYH11
HP_ARTERIAL_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ARTERIAL_STENOSIS	ENPP1	AGXT	IDS	MLXIPL	MPL	TGFBR1	LOX	SDHD	ABCA1	HLA-B	MAT2A	SMPD1	ELN	TMEM270	GTF2I	NCF1	ABCC6	RFC2	MAX	MYH11	LIMK1	RET	XYLT1	EIF4H	PPP1R17	GHR	APOB	PRKG1	YY1AP1	VAC14	LDLRAP1	FKBP6	ACTA2	STX1A	PNPLA2	LMNA	THPO	LDLR	BAZ1B	COL3A1	CYP27A1	BRCC3	SERPIND1	ADA2	TGFBR2	KCNJ5	BUD23	MLX	IL12B	FBN1	DNAJC30	ERCC8	ATP7A	SLC2A10	ABCG5	MFAP5	PCNT	JAK2	ABCG8	GTF2IRD2	VHL	PPARG	SMAD3	VPS37D	SMAD4	APOA1	CYP7A1	BCL7B	SMAD2	SDHB	F12	NOTCH3	TGFB2	FOXE3	APOA2	NF1	MYLK	XYLT2	EPHX2	STAT1	KIF1B	PCSK9	ERCC6	TGFB3	JAG1	LIPC	TMEM127	HEY2	ESR1	CEP19	POU3F4	METTL27	TBL2	CLIP2	BEST1	GTF2IRD1	CELA2A	AEBP1	ARL6IP6	ZNF687	APOE	FIG4
HP_EXSTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXSTROPHY	ISL1	UPB1	PAH	MED12	CDH11	KRAS	TP63
HP_NEOPLASM_OF_THE_TRACHEOBRONCHIAL_SYSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_TRACHEOBRONCHIAL_SYSTEM	KRAS	CASP8	FASLG	DICER1	SFTPC	COL4A6	EGFR	PRKN	ERCC6	SLC22A18	ERBB2	BRAF	MUC5B	IRF1	MAP3K8	KEAP1	SFTPA2	CYP2A6	TERT	PIK3CA	PPP2R1B	COL4A5
HP_ASYMMETRIC_GROWTH	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ASYMMETRIC_GROWTH	HRAS	HOXD13	HSPG2	ENPP1	NRAS	SPEN	RERE	KCNAB2	TRPV4	CDKN1C	KRAS	SATB2	PIK3CA	USP9X	PTHLH	LUZP1	EBP	KCNQ1OT1	MNX1	BPTF	CTSK	IKBKG	IGF2	FN1	H19	PTEN	HNF1B	SALL1	KCNQ1	MMP23B	COL2A1	TUBB	SETD5	ACTB	PDPN	PRKCZ	EXT1	PSMD12	MAPRE2	HMGA2	TONSL	PRDM16	AKT2	GABRD	SKI	DACT1	EXT2	UBE4B	EFNB1	DMP1	CASZ1	RASA1	MIR140	MAPK1	KAT6A	AGGF1	AKT1	GNAQ	RNF125	PORCN	ARL6IP6	ZNF699	PLAG1
HP_HEMIATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HEMIATROPHY	EBP	MIR140	BPTF	ZNF699	EFNB1	PSMD12
HP_LOWER_LIMB_ASYMMETRY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LOWER_LIMB_ASYMMETRY	HSPG2	ENPP1	SPEN	RERE	KCNAB2	TRPV4	SATB2	USP9X	LUZP1	EBP	MNX1	CTSK	FN1	PTEN	SALL1	MMP23B	COL2A1	TUBB	SETD5	ACTB	PDPN	PRKCZ	EXT1	MAPRE2	PIK3CA	TONSL	PRDM16	IGF2	GABRD	SKI	DACT1	EXT2	UBE4B	H19	DMP1	CASZ1	RASA1	MAPK1	KAT6A	AGGF1	GNAQ	PORCN	AKT1	KRAS
HP_UPPER_LIMB_ASYMMETRY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_LIMB_ASYMMETRY	TUBB	HOXD13	PTHLH	ACTB	MIR140	EBP	MAPRE2	AGGF1	PTEN	IGF2	PORCN	AKT1	H19
HP_SPINAL_CORD_LESION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPINAL_CORD_LESION	SLC33A1	NFIA	FUZ	ACY1	SETD2	RUNX2	DKK1	CCNQ	NRAS	GLRX5	EXT1	CREBBP	RAI1	NOTCH3	SH2B1	EXT2	LEMD3	WASHC5	CCM2	EP300	DDR2	RTN2	FBLN1	KPNA3	PDCD10	TBX6	FOXF1	KRIT1	NOTCH2	KDM1A	ABCA1	UBAP1	CTNNB1	HMGA2
HP_NEOPLASM_OF_THE_ENDOCRINE_SYSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_ENDOCRINE_SYSTEM	NF1	TP53	FASLG	YY1	CDKN2B	ARID2	GPR101	AKT1	CDKN1B	SDHC	CDKN1C	GCM2	AIP	PRKCD	SLC25A11	KCNQ1OT1	PDE8B	MAX	IGF2	VHL	MINPP1	SDHD	CDKN1A	APC	BAP1	DICER1	ATRX	SMARCE1	DNMT3A	NF2	SCN4A	ALG9	MSH3	DLST	MEN1	SMARCA4	MLH1	CASP10	USP8	PTEN	WRN	TRAF7	SMO	NRAS	CLCNKB	RET	BMPR1A	EDN3	TSC1	SLC12A3	SOX4	SMARCB1	SDHAF2	CDH23	SMARCC2	CYP11B2	RPS20	CTNNB1	HRAS	CYP11B1	NRTN	HABP2	SDHB	ARID1A	SLC26A4	SEMA4A	ECE1	MDH2	PRKACA	SUFU	SOX11	KCNJ10	EPCAM	ARMC5	KIF1B	ARID1B	FOXI1	PMS2	JAG1	PRKAR1A	GDNF	TMEM127	GNAS	SDHA	TERT	MDM2	PDGFB	PIK3CA	USF3	PKD1	SEMA3D	GREM1	GANAB	SEC23B	CDC73	KEAP1	CASR	MLH3	TGFBR2	RASGRP1	DPF2	IDH1	ATP7A	CLCN2	MSH2	NKX2-1	MAFA	KRAS	PKD2	KCNJ11	PMS1	CACNA1S	LMNA	SMARCD1	CHEK2	TSC2	KLLN	EDNRB	CCND1	BICC1	PDE11A	FAS	ERBB2	FOXE1	MSH6	FLCN	ERBB3	BRAF	TG	SRGAP1	FH	DNAJB11	KCNQ1	FAN1	CDKN2A	SREBF1	IDH2	DAXX	KCNE3	SEMA3C	ABCD1	GCGR	CDKN2C	EPAS1
HP_ABNORMALLY_OSSIFIED_VERTEBRAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALLY_OSSIFIED_VERTEBRAE	TRIP11	FLNB	SLC26A2	TRAPPC2	COL11A2	VPS35L	SOX9	COL2A1	IFT80	LEMD3	RSPO2	INPPL1	NKX3-2	LFNG	DYNC2H1	LBR	HSPG2	EBP	ALPL	RMRP	WNT3	DYNC2I2	BMPER	RNU4ATAC	WDR35	DYNC2I1
HP_CARCINOID_TUMOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARCINOID_TUMOR	SDHD	CDKN2C	CDKN1B	MEN1	TSC1	ATRX	CDKN2B	APC	LMNA	CDKN1A	TSC2	DAXX
HP_CARDIAC_DIVERTICULUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CARDIAC_DIVERTICULUM	KRAS	PMS1	TGFBR2	PIK3CA	EPCAM	BMPR1A	SEMA4A	MSH6	PMS2	RPS20	FAN1	MLH1	MSH2	MLH3
HP_BILIARY_TRACT_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BILIARY_TRACT_NEOPLASM	BRCA2	BRCA1	HFE	STK11	MST1	PTPN3	SEMA4D	PSAP	RNF43	ARSA	PKHD1	TCF4	DZIP1L	GPR35
HP_NEOPLASM_OF_THE_GALLBLADDER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_GALLBLADDER	ARSA	TCF4	MST1	GPR35	SEMA4D	PSAP
HP_AMAUROSIS_FUGAX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AMAUROSIS_FUGAX	PTPN22	CACNA1A	KRAS	CALR	PMS1	P4HA2	CNTN2	HLA-DRB1	EPCAM	JAK2	MPL	SAMD12	MARCHF6	MSH6	PMS2	HLA-B	RPS20	MLH1	SCN1A	MLH3	TET2	SH2B3	CTNND2	ADA2	PRRT2	TGFBR2	PIK3CA	BMPR1A	ADRA2B	SEMA4A	TP53	YEATS2	MLX	IL12B	FAN1	ATP1A2	MSH2
HP_LIPOATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIPOATROPHY	PLN	TPM1	DMD	PPARG	RNASEH2B	TNNC1	FKTN	TAFAZZIN	SDHA	LMNA	LDB3	ADAR	BAG3	NEXN	SGCD	CAP2	VCL	BANF1	DES	HAND2	FBN1	CLMP	ACTC1	PSEN2	TMPO	MYH6	MYH7	POLR3A	DSG2	DOLK	MYBPC3	PLIN1	SCN5A	ACTN2	ACTB	SLC25A24	RBM20	TXNRD2	FLNA	CRYAB	PIK3CA	RAF1	TNNI3	TTN	TNNT2	PIK3R1	PDGFRB	PSEN1	PRDM16	MYPN	FUCA1	WRN	FHL2	RBM28	DSP	TCAP	LMNB2	RNASEH2A	GATAD1	TREX1	LAMA4	RNASEH2C	TAF1A	ABCC9	PPCS	ANKRD1	IFIH1	CSRP3	SAMHD1	COL3A1
HP_MUCOSAL_TELANGIECTASIAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MUCOSAL_TELANGIECTASIAE	SEC23B	ENG	SDHD	IRF5	PIK3CA	XPA	LBR	CTSA	GDF2	SETX	ERCC5	CCR6	HLA-DRB1	SDHC	ATM	DDB2	ACVRL1	PCNA	PTEN	SDHB	ERCC4	ERCC2	KIAA0319L	ERCC3	GLA	AKT1	RNF168	KLLN	NAGA	PEX6	CAV1	CCN2	GNAQ	XPC	MASP1	SMAD4	USF3
HP_BARRETT_ESOPHAGUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BARRETT_ESOPHAGUS	CTHRC1	ASCC1	MSR1	RAD21	FH	MYH11
HP_ENDOCARDITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENDOCARDITIS	C4A	HLA-B	IL12A-AS1	TLR4	PRKAR1A	IL12A	CCR1	ERAP1	IFNGR1	IL10	MEFV	FAS	STAT4	GBA	UBAC2	IL23R	KLRC4
HP_TELANGIECTASIA_OF_THE_SKIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TELANGIECTASIA_OF_THE_SKIN	WNT10A	ARX	ENG	IRF5	DKC1	SOX18	XPA	LBR	ABCC6	NOP10	BLM	CCR6	XRCC4	NPM1	GPR35	DDB2	FERMT1	PIK3CA	ENPP1	USB1	PCNA	KIAA0319L	ERCC3	MST1	SLC37A4	IKBKG	LMNA	LIG4	SEMA4D	CAV1	CYLD	ACVRL1	TCF4	KIT	RTEL1	SLC29A3	TMC8	NF1	CIB1	ANTXR2	SDHD	ATRX	GDF2	SLC2A10	ERCC5	TINF2	WRAP53	NAGA	HLA-DRB1	IL7	ATM	TERT	VPS53	COL3A1	DAXX	CTC1	WRN	ERCC4	ERCC2	CCN2	GLA	TERC	NHP2	TMC6	POLE	PARN	XPC	PORCN	ARL6IP6	ELMO2	SMAD4	GNPTAB
HP_ABNORMAL_PREPUTIUM_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PREPUTIUM_MORPHOLOGY	ERCC4	FANCM	SLX4	APC2	FANCD2	AR	DKC1	RFWD3	RAD51	PALB2	CENPT	SETD2	UBE2T	MAD2L2	FERMT1	BRCA2	XRCC2	FANCA	FANCC	BRIP1	CTCF	FANCG	ERMARD	MAMLD1	FANCB	FANCL	RAD51C	BRCA1	FANCE	PQBP1	FANCI	NSD1	FANCF
HP_UROGENITAL_FISTULA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UROGENITAL_FISTULA	TGFB1	SLC35A2	LONP1	RECQL4	SALL4	POR	POLR1D	FREM1	MNX1	SALL1	CCNQ	WNT9B	SPINT2	HES7	OCRL	FGF20	LFNG	KDM6A	DYNC2I2	PKP1	GREB1L	ITGA8	POLR1C	DYNC2I1	RIPPLY2	KMT2D	IL10RB	JAK3	DACT1	UBR1	IFT80	PIGN	MESP2	DYNC2H1	TCTN3	POLR1B	MKKS	CDK8	CAPN15	DDB1	TCOF1	WDR35	RET	KIF7	SYK	DLL3
HP_RECTAL_FISTULA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECTAL_FISTULA	IL10RB	LONP1	RECQL4	JAK3	DACT1	SALL4	UBR1	POLR1D	FREM1	PIGN	MNX1	SALL1	CCNQ	TCTN3	POLR1B	SPINT2	MKKS	CDK8	DDB1	POLR1C	TCOF1	KIF7
HP_PERITONEAL_ABSCESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERITONEAL_ABSCESS	PALB2	CDKN2A	KRAS	BRCA2	PALLD	SMAD4	RABL3	TP53	BRCA1	TTC7A
HP_CALCIFICATION_OF_CARTILAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CALCIFICATION_OF_CARTILAGE	HGD	MGP	ABCC6	ZBTB20	ANKH	TNFRSF11B	PEX2	SLC26A2	LBR	PEX5	ENPP1	DDR2
HP_PULMONARY_EDEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PULMONARY_EDEMA	FSHR	FLNC	MOGS	MT-CYB	KIF20A	TNNI3	MYBPC3	MYPN	EPHB4	EIF2AK4	CFH	PLXND1	HELLPAR	PRKAG2	TNNT2	SFTPB	NKX2-6	SFTPC	ABCA3	CD46	CFI
HP_ECLAMPSIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ECLAMPSIA	LMNA	STOX1	NOS3	PPARG	CD46	CFH	CFI	HELLPAR
HP_TOXEMIA_OF_PREGNANCY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TOXEMIA_OF_PREGNANCY	NR1H4	F5	PPARG	ATP8B1	EP300	CFH	HELLPAR	ADGRG6	ABCB11	CORIN	SLC25A20	CYP11B2	ABCB4	CYP11B1	HBA1	HBA2	CFI	LBR	NR3C2	FDXR	SPTBN1	LMNA	STOX1	NOS3	DHPS	CD46
HP_NEOPLASM_OF_THE_LARYNX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_LARYNX	CAT	MLH1	NLRP1	MDM2	RSPO1	MSH2	MSH6	CHEK2	CDKN2A	TP53
HP_NEOPLASM_OF_THE_RESPIRATORY_SYSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_RESPIRATORY_SYSTEM	KRAS	STAT6	TP53	APC2	MLH1	NLRP1	STK11	BRCA2	TSC1	TRIM28	WT1	PDGFRB	EWSR1	DICER1	MSH2	ZFTA	IRF1	TSC2	MAP3K8	SETD2	REST	TRPV3	KEAP1	SFTPA2	H19	HPGD	SFTPC	COL4A6	ERCC6	LMNA	SLC22A18	BAP1	BRAF	PTEN	CDKN2A	COL14A1	MST1R	CASP8	NDUFAF6	PRKN	GPC3	ERBB2	MBTPS2	MSH6	SPRED1	POU6F2	RB1	PRKAR1A	CHEK2	IFNG	TERT	PIK3CA	PPP2R1B	COL4A5	WRN	CAT	NOTCH3	NAB2	SLCO2A1	MDM2	FASLG	EGFR	DIS3L2	AAGAB	RSPO1	TRIP13	MUC5B	AKT1	NSD1	CYP2A6	PERP	RELA
HP_DYSMENORRHEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSMENORRHEA	LMNA	PPARG	PHKA2	CYB5A	HMGA2	IGF2	CYP17A1	CDKN1C	PHKG2	AIP	ANTXR1	GPR101	PLAG1	PHKB
HP_METRORRHAGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METRORRHAGIA	PML	IRF2BP2	RARA	NABP1	F5	NUMA1	STAT5B	BCOR	NPM1	PRKAR1A	TBL1XR1	FIP1L1	ZBTB16	STAT3	FLI1
HP_MULTIPLE_GLOMERULAR_CYSTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MULTIPLE_GLOMERULAR_CYSTS	HNF1B	MT-TL1	MT-ND4	MT-TW	MYOCD	NPHP3	MT-ND2	MT-TV	MT-TK	MT-ATP6	MT-ND5	MT-ND6	MT-ND3	MT-ND1
HP_ODONTOGENIC_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ODONTOGENIC_NEOPLASM	APC	FGF3	SUFU	PTCH2	OFD1	HSPG2	PTCH1	OCRL
HP_MYOSITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MYOSITIS	HLA-B	IL12A-AS1	PSTPIP1	PSMB9	IL12A	RNASEH2B	STING1	CCR1	ERAP1	IFNGR1	MEFV	SPP1	IRF4	PSMG2	ADAR	IL23R	C4A	TLR4	LPIN1	IRAK1	RNASEH2A	TNFRSF1A	IL10	FAS	HNRNPA2B1	LAMA2	MT-CO3	TREX1	RNASEH2C	STAT4	MT-CO1	UBAC2	FOXP3	IFIH1	PSMB4	CAPN3	KLRC4	SAMHD1
HP_OVARIAN_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OVARIAN_NEOPLASM	PALB2	WNT10A	RAD51	SUFU	ERBB2	BRCA2	EWSR1	DMRT3	STAG3	VAMP7	PTEN	RNF43	MAP3K1	RAD51C	ZFTA	MSH6	ZFPM2	NR0B1	SMAD4	KEAP1	PTCH1	BRCA1	MLH3	GATA4	CHEK2	SOX9	CDH1	TP53	PMS2	TGFBR2	RABL3	LMNA	PIK3CA	RAD51D	DICER1	NBN	WT1	IDH1	NR5A1	FAN1	CDKN2A	MRE11	MSH2	BRIP1	KRAS	PMS1	PALLD	EPCAM	OPCML	DHX37	SPRED1	RAD50	PRKAR1A	CTNNB1	FLI1	IDH2	MLH1	WRN	MDM2	WWOX	MSH3	SRY	PRKN	PTCH2	AKT1	FGFR2	RELA	BARD1
HP_GERMINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GERMINOMA	CDH1	ERBB2	DICER1	OPCML	PIK3CA	MAP3K1	PRKN	STS	IGF2	CTNNB1	KEAP1	AKT1	FGFR2
HP_DYSGERMINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSGERMINOMA	MAP3K1	CDH1	PRKN	ERBB2	CTNNB1	AKT1	OPCML	PIK3CA	FGFR2
HP_ENLARGED_THORAX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_THORAX	TRIP11	RASA2	PRKACB	TRAPPC2	PCGF2	KRAS	CUL7	LMNA	LRP5	BRAF	RRAS	GUSB	MRAS	PTPN11	COL2A1	RIT1	MAP2K1	RAF1	FBN1	WNT7A	ACP5	HRAS	DYM	CCDC8	P3H1	NAA10	SOS1	ZMPSTE24	VPS33A	ACAN	EIF2AK3	WNT4	XYLT2	CHST3	INTU	FUCA1	GPKOW	SPRED2	POP1	MYH3	RAB33B	TNFRSF11B	SRCAP	TRPV4	OBSL1	NRAS	LZTR1	SOS2	KDELR2	MAPK1	CBL	RRAS2	KAT6A	BCOR	LBR	IDH1	CILK1	BMPER	PRKACA	GATA4
HP_CHRONIC_HEPATIC_FAILURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_HEPATIC_FAILURE	HFE	RPGRIP1L	MST1	HADHB	INPP5E	SEMA4D	HADHA	TMEM67	TCF4	CC2D2A	GPR35	ALDOB	SP110
HP_NEOPLASM_OF_THE_ADRENAL_GLAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_ADRENAL_GLAND	NF1	TP53	SDHC	VHL	MEN1	RET	YY1	CDKN2B	APC	CYP11B2	CDKN1C	CYP11B1	SDHAF2	SLC25A11	KCNQ1OT1	IGF2	MAX	FH	IDH1	KCNQ1	CDKN1A	CDKN2A	CLCN2	MDH2	SDHB	KIF1B	CACNA1S	DNMT3A	SCN4A	SDHA	CDKN1B	CHEK2	DLST	IDH2	KCNE3	TMEM127	PTEN	MDM2	CDKN2C	EPAS1	SDHD
HP_ESOPHAGITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ESOPHAGITIS	PGM3	TCF4	ATAD1	TGFB1	TGFB3	IARS1	MEN1	REL	STXBP1	RPL11	SMAD3	LMX1B	CARD8	GLRB	FERMT1	SLC6A5	CDKN1B	ADAMTSL2	ATP7A	TGFBR2	ADAMTS2	TGFBR1	PSPH	GPHN	SLC2A10	TGFB2	CARMIL2	MYH11	GLRA1	TRAPPC11	PHGDH
HP_NEUROENDOCRINE_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEUROENDOCRINE_NEOPLASM	NF1	SDHC	VHL	DNMT3A	MEN1	TSC1	RET	YY1	SDHD	PRKAR1A	CDKN2B	DLST	SDHAF2	CDKN1B	SDHB	SLC25A11	MAX	APC	FH	CDKN1A	MDH2	MAFA	KCNJ11	ARMC5	ATRX	KIF1B	LMNA	SDHA	TSC2	TMEM127	DAXX	GNAS	GCGR	CDKN2C	EPAS1	CCND1
HP_ERECTILE_DYSFUNCTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ERECTILE_DYSFUNCTION	SACS	GNRHR	PROK2	HEXB	ABCD1	BMP2	TACR3	KISS1R	CDKN2B	IRF4	HBB	FGF17	DCC	ATXN8OS	SEMA3A	MEN1	AIP	COQ2	HS6ST1	FMR1	NDP	CHD7	SLC40A1	GUCY1A1	HAMP	SPRY4	SMARCB1	HESX1	CDKN1A	PROKR2	BAP1	KISS1	TTR	TAC3	SUFU	HFE	IL17RD	DUSP6	NSMF	CDH23	LMNB1	FLRT3	SMARCE1	FGFR1	NF2	NDNF	CDKN1B	HJV	ANOS1	FEZF1	FGF8	AR	TRAF7	TERT	CCDC141	WDR11	CDKN2C	PDGFB	SMO	SOX10	CACNA1G	GNRH1	GALC	AKT1	PIGA	GPR101	PIK3CA	TFR2
HP_NEOPLASM_OF_THE_ADRENAL_CORTEX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_ADRENAL_CORTEX	TP53	MEN1	CDKN2B	CACNA1S	APC	SCN4A	CDKN1B	CYP11B2	CHEK2	CDKN1C	CYP11B1	IDH2	KCNE3	PTEN	MDM2	CDKN2C	KCNQ1OT1	IGF2	IDH1	KCNQ1	CDKN1A	CDKN2A	CLCN2
HP_ABNORMALITY_OF_NAIL_COLOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_NAIL_COLOR	PEX1	RNU4ATAC	PEX6	TRPS1	ATP2A2	STK11	DSC3	DSG1	FOXC2	DSP	CAST	GJB2	KANK2	ABCA12	GJA1	PLCD1	KIF11
HP_THYROIDITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THYROIDITIS	FASLG	NLRP1	IL7R	HLA-DQA1	SLC12A3	FAS	SLC37A4	TTC7A	PTEN	RAG2	DCLRE1C	AKT1	CDKN1B	GPR35	PRKCD	STAT5B	IL2RG	MST1	POLG	RASGRP1	SEMA4D	TCF4	SOCS1	HLA-DQB1	RAG1	STAT1	CTLA4	SEC23B	CHD7	IL2RA	ADA	PIK3CA	CASP10	FOXD3	LIG4	TBX2	TG	C1S	PLCG2	ITCH	CLCNKB	ADA2	ZFAT	RMRP	LRBA	FOXP3	IL18BP
HP_GRAVES_DISEASE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GRAVES_DISEASE	GABRA3	CACNA1S	KCNJ18	SLC12A3	CLCNKB
HP_NEOPLASM_OF_THE_TONGUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_TONGUE	KAT6B	FASLG	CPLANE1	INTU	TOPORS	SUFU	OFD1	TCTN3	KIAA0753	MDM4	GJB2	FAS	WDPCP	PDE6D	DYNC2H1	SMARCE1	NF2	TMEM216	KIF7	BAP1	PRKCD	CASP10	NEK1	TRAF7	TERT	C2CD3	PDGFB	SMO	EDN1	RASGRP1	SMARCB1	GJB6	GNAI3	FAM149B1	TMEM107	AKT1	TMEM231	PLCB4	PIK3CA
HP_NEOPLASM_OF_THE_ORAL_CAVITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_ORAL_CAVITY	FASLG	MLH1	SUFU	OFD1	TCTN3	MDM4	FAS	WDPCP	MYC	PDE6D	MSH2	TMEM216	APC	PRKCD	PTCH1	C2CD3	FGF3	HSPG2	RASGRP1	LMNA	OCRL	SMARCB1	GNAI3	FAM149B1	TMEM107	PLAG1	TMEM231	PLCB4	BAP1	KAT6B	CPLANE1	INTU	TOPORS	KIAA0753	GJB2	DYNC2H1	SMARCE1	MSH6	NF2	KIF7	CASP10	NEK1	WRN	TRAF7	TERT	PDGFB	SMO	EDN1	GJB6	PTCH2	AKT1	PIK3CA
HP_VAGINAL_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VAGINAL_NEOPLASM	BUB1	STAT6	NAB2	TRIP13	BUB3	COL4A6	FH	BUB1B	CEP57	COL4A5
HP_TYPE_I_DIABETES_MELLITUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TYPE_I_DIABETES_MELLITUS	AIRE	INS	MT-ND6	ABCC8	NEUROG3	HLA-DQA1	SLC12A3	MT-TE	TTC7A	KCNJ11	STUB1	GPR35	TKT	CNOT1	FOXP3	GCK	MT-TF	DNAJC3	MST1	STAT3	SEMA4D	STOX1	MT-TS2	MMP2	TCF4	EIF2AK3	CORIN	MIA3	MT-TW	HLA-DQB1	MT-CO3	PSTPIP1	MT-CO2	STAT1	MT-TH	FLT1	EDA	MMP14	SLC37A4	IL2RA	KCTD1	MT-TL1	CAT	MT-CO1	SLC29A3	ITCH	MT-ND1	MT-ND4	CLCNKB	ADA2	MT-ND5	HNF1A	EDA2R	MT-TQ	LRBA	IL18BP
HP_CELLULITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CELLULITIS	FLT4	CYBA	CXCR4	STAT3	PIK3R1	VEGFC	BTK	LRRC8A	IGHM	GFI1	FOXC2	AEBP1	MPEG1	PIK3CD	IL2RA	COL1A1	SHANK3	CD79A	SLC35C1	PHEX	SLC35A1	NCF2	RAC2	GJC2	IGLL1	AGGF1	ELANE	BLNK	LMNA	PIEZO1	SRP54	TCF3	NCF1	GATA2	TCIRG1	CD79B	PSTPIP1	CYBB	KIF11	IL6R	PLCG2	TNFRSF1A
HP_ABNORMAL_CEREBRAL_VASCULAR_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CEREBRAL_VASCULAR_MORPHOLOGY	NDE1	TGFBR1	COL4A1	CFH	APP	MAT2A	TNNT2	KANSL1	TBX20	F2	MT-ND5	GTF2I	ACTB	NCF1	SLC25A11	SH2B3	KRIT1	MYH11	NPPA	PNP	EIF4H	APOB	NKX2-5	BAP1	MCCC2	MTHFR	LDLRAP1	ODC1	MT-TH	SMARCE1	HELLPAR	ZMPSTE24	SLC2A10	DNMT3A	MCCC1	ALG9	DLST	BRCC3	USP8	PTEN	MT-CO1	TRAF7	ADA2	RASA1	TGFBR2	EDN1	MT-ND1	LMNA	COL5A2	RNASEH2C	SMAD3	LMAN1	ATP7A	IFIH1	F8	VHL	ABCC6	MPL	SMARCAL1	CDH23	CYP11B2	CYP11B1	SCN5A	LDLR	BCL7B	PDGFB	MT-TF	STIM1	CLCN3	COL5A1	SPTBN1	NOTCH3	MT-ND6	PKD1	AMACR	TGFB2	PIK3C2A	ACVRL1	MMACHC	PMM2	GATA4	COL3A1	MT-CO2	STAT1	JAK2	SLC19A2	TONSL	KIF1B	PCSK9	DIAPH1	OTC	JAG1	PRKAR1A	TMEM127	OBSL1	KCNQ1	CD109	MT-TL1	THSD1	TERT	METTL27	FGB	TANGO2	FHOD3	GATA2	MYD88	PIK3CA	GANAB	ENG	CST3	MYPN	RNF213	HBB	ADAR	FGA	ELN	ITGA2B	GGCX	ENPP1	SDHAF2	SPARC	F5	ACTA2	MT-TC	RFC2	TET2	FARSB	RET	SERPINE1	FGG	PRKG1	CD46	PKD2	COL1A1	FKBP6	GCDH	TPP2	PCCB	AIRE	SON	PDCD10	USP18	BUD23	WFS1	LRPPRC	DNAJC30	MT-CYB	ACTC1	SDHB	PCNT	ABCG8	HSD11B2	BICC1	SIAH1	TTR	F10	EPHB4	PLOD3	VPS37D	SMAD4	PCCA	SMAD2	HTRA1	CBS	CCDC8	TP53	GNAI3	DNAJB11	ANGPTL6	PAFAH1B1	F13A1	MYLK	MECP2	GUCY1A1	DYRK1B	HEY2	MSX2	MT-TK	GLA	MT-ND4	NR3C1	GBA	RNASEH2A	SDHD	RFT1	DPM3	ADAMTS13	NF1	FLNC	MT-TW	CALR	MLXIPL	FN1	MYBPC3	IL6	MT-TV	MAX	LIMK1	XYLT1	ACTG1	GNAQ	DOCK8	F13B	ANTXR1	PRKCH	NF2	FCGR2C	CFI	WRN	SLC20A2	MCFD2	KIF20A	DCX	SMO	WAS	TNXB	ALPL	DPAGT1	AKT1	ABCG5	MFAP5	TNNI3	RNASEH2B	IVD	SAMD9	ITGB3	CYP26C1	SMARCB1	PLCB4	MDH2	MT-CO3	SUFU	NOS3	XYLT2	CITED2	F7	PRNP	GNB2	TGFB3	TLL1	PROC	ACAD9	ASS1	TBL2	KRAS	PIGA	SAMHD1	LOX	B3GALT6	CUL7	KCNJ5	TGFBR3	TMEM270	CCM2	SNAP29	TREX1	MT-TS2	PET100	LMBRD1	PROS1	STAT2	CLCN2	NAGS	CPT2	RPL10	STX1A	GP1BA	GDF2	THPO	BAZ1B	AGXT	SDHC	WIPF1	COLGALT1	RNF168	FBN1	ERCC8	MYH6	NGLY1	GTF2IRD2	MMUT	GATA6	CACNA1D	GP1BB	GYS1	FH	FOXE3	GAA	IPO8	COL4A2	NDUFA8	ALOX5AP	ALX4	ZAP70	ITGA2	PDGFRB	ERCC6	SDHA	FLNA	MT-TQ	EPAS1	CLIP2	SERPINF2	GTF2IRD1	CPS1	BGN
HP_DYSKINESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DYSKINESIA	SLC6A3	PARK7	MRM2	YIF1B	UNC80	DCPS	CACNA1I	NCDN	TSEN54	POLR3K	NEUROD2	BCAS3	SLC2A1	VPS13A	MED25	AGA	PIGC	MT-ND3	COQ2	CDH15	ZC3H14	SCN2A	TSEN2	KIF1A	PNPT1	SCO2	PRRT2	SURF1	SCN3A	PINK1	GABRB2	NTRK2	VPS35	PRKRA	ACAT1	MECR	SZT2	EXOSC5	TRAPPC9	SARS1	JAM2	SLC16A2	DDX3X	NUS1	CDKL5	GABRA2	ERBB4	PDE10A	MLH1	MYT1L	CYP27A1	ATP13A2	KNSTRN	SLC35A1	SCN8A	CACNG2	LRRK2	ATG7	FTL	SLC18A2	DNAJC13	ATP1A3	CDK19	YWHAG	C12orf4	GNAO1	AP3B2	CC2D1A	ARV1	IQSEC1	DPYS	GRIN2B	NALCN	PLP1	CAMK2B	MED12L	WIPI2	FMN2	GRIN1	RPS20	SLC46A1	MBD5	IREB2	PIGQ	ZMYND11	CIC	ATP1A2	FRRS1L	CACNA1A	TRPM3	KCNB1	HCN1	DLL1	NDUFS8	ASH1L	NBEA	C9orf72	CUX1	KIRREL3	SEMA4A	SYNJ1	MBOAT7	TCF4	HNMT	ARX	CHAMP1	DNAJC6	UBA5	DEAF1	SLC39A14	KCNA1	PNKD	EPCAM	PODXL	CRBN	NDUFB8	SLC30A9	GRM7	CACNA1B	TTC5	PMS2	EPB41L1	SYT1	CUX2	LINS1	TUSC3	XK	LMAN2L	ATXN7	PIK3CA	PANK2	MT-TW	NDUFAF3	UBE4A	NSUN2	GRIN2D	EZR	FASTKD2	MT-ND1	WWOX	MT-TL1	RSRC1	TRIM8	SNCA	TNIK	PRKN	SYNGAP1	PIK3CD	MRE11	CLIP1	PRICKLE2	NDUFA13	ADCY5	MLH3	CELF2	SIL1	SLC1A2	EEF1A2	TGFBR2	WASHC4	KCNA2	PGAP1	CAMK2A	HIVEP2	NMNAT1	AARS1	VPS13C	CHMP2B	MSH2	PPP3CA	KRAS	PMS1	UFSP2	PDGFB	NDUFS4	ATP6V1A	NDST1	SLC25A10	GBA	SET	ACTL6B	MT-TK	TRAK1	NAA20	GABRG2	TECR	FBXO31	SLC12A2	MICU1	INPP5K	SIK1	DYNC1H1	LRPPRC	MT-TV	MT-ATP6	TMEM43	KDM5B	PNKP	DMXL2	SLC45A1	SETD1B	PRSS12	CYFIP2	B3GALNT2	GNAS	CASK	MSH6	GRIK2	SCN1B	GIGYF2	RAB39B	HTRA2	MT-ND2	KCNQ5	SLC13A5	CRADD	FGF12	DNM1	GABRA5	METTL23	MT-ND4	ST3GAL3	BMPR1A	ALKBH8	B4GALNT1	CLTC	AIMP1	EIF4G1	DOCK8	RAB11A	FGF13	FAN1	MT-ND6	EDC3	CNKSR2	MED23	PARS2	MAN1B1	CSNK2B	FOXG1	NECAP1	NDUFS2	GABRB3	BRSK2	UCHL1	FGF14	DHDDS	MT-ND5	TAOK1	PURA	PIGP	STX16	KCNMA1	SLC25A22	NEMF	ATXN10	AP1G1	DNAJC19	DALRD3
HP_ANGIOEDEMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ANGIOEDEMA	PLCG2	DNASE1L3	ANGPT1	SERPING1	MYOF	CPN1	XPNPEP2	PLG	KNG1	KIT	HS3ST6	F12	SPINK5
HP_ABNORMAL_PIGMENTATION_OF_THE_ORAL_MUCOSA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PIGMENTATION_OF_THE_ORAL_MUCOSA	XYLT1	CDH23	ABCD1	STK11	XYLT2	KRT14	MTX2	USP8	ABCC6
HP_ABNORMAL_TRABECULAR_BONE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_TRABECULAR_BONE_MORPHOLOGY	RECQL4	TNFRSF11A	DKC1	SLC34A3	AMER1	ENPP1	CLCN5	PLCB3	TINF2	NOP10	WRAP53	CYP27B1	NPM1	TRPV4	TCIRG1	TERT	CTC1	TNFRSF11B	USB1	DMP1	CYP2R1	VDR	NOTCH2	TERC	ANAPC1	PTH1R	SLC29A3	NHP2	PARN	PORCN	RTEL1
HP_PREMATURE_SKIN_WRINKLING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PREMATURE_SKIN_WRINKLING	SLC25A24	ELN	ABCC6	EDA	RTEL1	TBL1XR1	ALDH18A1	PLOD1	PARN	DKC1	KCNJ6	TWIST2	CSTA	ALG8	SMARCA2	ATP6V1A	BRAF	FGFR3	ENPP1	ATP6V1E1	MAP2K1	MED12	SYNGAP1	SLC6A1	FBLN5	ADAMTS2	SLC2A1	CHD2	RIT1	PIK3R1	COG5	ATP6V0A2	SCN1A	MAP2K2	TOR1A	POLR3A	TALDO1	CFTR	AP2M1	TINF2	EDARADD	EDAR	NAA10	TGM5	PTPN11	PTEN	ZMPSTE24	LMNA	RAF1	LZTR1	ZNF469	PYCR1	COL3A1	ACD	C1R	KRAS	FGFR2	ADAMTSL2	CDH11	MRAS	TERT	NEXMIF	COG7
HP_LACK_OF_SKIN_ELASTICITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LACK_OF_SKIN_ELASTICITY	TP53	PRKAR1A	NIPAL4	EFEMP2	SPEN	PDE11A	TGM1	ABCC6	CDH23	ABCA12	MTX2	ENPP1	HRAS	COL5A1	ALOX12B	CYP4F22	COPB1	PDE8B	LMNA	SULT2B1	TGFBR1	USP8	FBN1	LIPN	AIP	TGFB2	PRKACA	COL1A1	POLD1	FBLN5	ARMC5	ZMPSTE24	DLG4	ALOXE3	SMAD3	GNAS	SDR9C7	SMARCAD1	WRN	TGFBR2	CUL4B	LTBP1	COL5A2	PAH	ADAMTSL2
HP_ABNORMAL_SHARPEY_FIBER_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SHARPEY_FIBER_MORPHOLOGY	HLA-B	CDC73	GCM2	GNA11	SLC12A3	PDGFRB	PTPN22	TNFRSF1A	ENPP1	KCNJ1	SLC12A1	ALPL	FXYD2	MEN1	STAT4	IL2RB	ATP7B	WRN	DMP1	NOTCH3	PHEX	AP2S1	ANKH	MEFV	TNFRSF11B	LMNA	HYAL1	CD247	ANKRD55	CLCNKB	IL2RA	ATP7A	PTPN2
HP_ENTHESITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENTHESITIS	DMP1	HLA-B	PHEX	PTPN22	ENPP1	CD247	ANKRD55	IL2RA	STAT4	IL2RB	PTPN2
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	CHD3	PROM1	NTNG2	ZMIZ1	MYO1H	TBCE	TRMT1	CCDC28B	RAD51	SMG8	HK1	KIZ	KIDINS220	GTF2I	NEK2	FANCC	CEP290	NCF1	DOCK3	YY1	PCYT1A	MED27	EIF4H	ERCC3	FANCF	EXOSC5	ERCC4	IMPG1	MPLKIP	FANCD2	C1QBP	FIBP	SLC2A10	RDH12	EBF3	GTF2E2	ACTL6B	POMGNT1	COL1A2	LRAT	EMC10	FANCL	SLC7A14	PCARE	DPYSL5	REEP6	CHD4	PTPN23	PACS2	TRIP12	HGSNAT	SMARCAL1	MAPK8IP3	KCNMA1	MAD2L2	ZEB2	FANCA	ABCA4	BCL7B	CACNA1F	TCF4	FBXW11	WDFY3	WAC	BPTF	SPATA7	TBC1D7	TCF20	NIPBL	TARS1	POGZ	RERE	HARS1	CRX	ARID1B	BCORL1	RLIM	METTL27	GALNT2	BBS2	ARL6	GNPTAB	PPP1R12A	LCA5	FANCB	CCDC32	DYRK1A	FANCI	SLC25A24	MYT1L	PRMT7	TUB	GUCA1B	CNGB1	CERKL	RP1L1	USP45	IFT172	ZNF408	CA4	ELN	USP9X	CRB1	SLC12A2	RFC2	VARS1	PDE6G	UBR7	KMT2E	UBE3B	KERA	FKBP6	VSX1	GRIA4	COL9A2	CLDN11	IMPG2	RGR	HPDL	AGBL5	CDHR1	MAG	OTUD5	TULP1	SCAPER	BUD23	ZNF469	OFD1	RAD51C	FANCE	PRCD	EYS	DNAJC30	MBTPS2	PRPF8	NR2F1	TCF7L2	PUS7	ARHGEF18	COL4A1	SYNCRIP	KCNJ13	VPS37D	LOXL3	KIF11	TEAD1	AGO2	LMX1B	DHDDS	ARL2BP	EMC1	PDE6B	RNF2	RPGRIP1	ZFHX4	MT-TS2	TFE3	FLNA	NTNG1	ANKRD11	SPTBN1	CNOT3	COL11A1	COL25A1	PIGQ	CHRDL1	PRDM5	BRCA2	XRCC2	CFAP418	MARK3	KAT8	SEMA4A	SETD1A	BRCA1	AEBP1	PRPF31	AIPL1	FBN1	POLR3GL	GATAD2B	MLXIPL	RPE65	PLOD1	TGFBI	USH2A	PRPF3	MIR184	IFT140	KDM4B	PSMD12	MED13	NR2E3	RP2	LIMK1	RP1	SLC39A8	CLCN3	ANTXR1	IMPDH1	GPR143	ARCN1	TNPO2	SCUBE3	TNRC6B	AHR	KAT6A	EDEM3	KDM5B	DPAGT1	BBS1	NSD1	TANC2	PIGT	CHMP1A	IFT88	IDH3B	FAM161A	GUCY2D	DDX6	TYR	BCAS3	PALB2	SETD2	PDE6A	SHOC2	MADD	AP1B1	KLHL7	PALS1	DHX38	FANCG	SLC4A11	GRHL2	DSE	ACTL6A	ROM1	SETD5	BLOC1S3	PRPF6	GTF2H5	STXBP1	BBS9	COL3A1	NRL	IDH3A	GLRB	TBL2	ERCC2	CLDN19	KCNV2	TRIM37	COL9A3	TOPORS	SNRNP200	HS2ST1	CHST6	ANKRD17	ARSG	FANCM	APC2	SRCAP	ADNP	GDF6	SATB1	DPYD	ZEB1	H1-4	TMEM270	BRIP1	PPP2R5D	GNB5	HTT	COL8A2	RD3	CC2D2A	RBP3	SLX4	PRPH2	SAG	KMT2B	STX1A	DNAJC21	MAK	KIAA1549	BAZ1B	RPGR	ARL3	RHO	RNF113A	CHST14	MAN2B1	BEST1	CNGA1	MERTK	LMBRD2	CEP78	KRAS	P4HTM	ARHGEF2	GTF2IRD2	CLDN16	SVBP	ZNF513	NMNAT1	RHOA	COL9A1	UBE2T	RP9	FSCN2	TTC8	RNU4ATAC	HRAS	MBD5	COL17A1	INTS1	WASF1	NFIX	TGFB2	CLRN1	IQCB1	MAP3K7	PIEZO2	RFWD3	PRPF4	NEUROD2	HUWE1	OVOL2	RLBP1	CLIP2	TRAPPC4	GTF2IRD1	AP3D1	PITX2	JARID2	AHI1
HP_IRIDODONESIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_IRIDODONESIS	CPAMD8	ADAMTS17	FBN1	CHRDL1	LTBP2
HP_TIBIAL_TORSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TIBIAL_TORSION	ADGRV1	SLC29A3	PRR12	GABRG2	SCN1A	SCN1B	HCN1	SCN2A	SCN9A	STX1B	PCDH19	FIBP	GABRA1	RBM8A	DDX6	SLC26A2	GABRD
HP_SCARRING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCARRING	PLEC	PROM1	USH2A	PRPF3	LRP1	POLA1	COL1A2	KIZ	TGFBI	IFT140	NEK2	EBP	NR2E3	BTNL2	RP2	KRT5	RP1	COL5A2	TFAP2A	APC	LAMC2	COL12A1	IMPDH1	IMPG1	LAMB3	MMP1	ZNF469	UROS	TGFBR2	POMGNT1	FKBP14	COL7A1	AHR	CREBBP	LRAT	COL6A2	CTSC	NTRK1	SLC7A14	PCARE	SMAD3	ECM1	ATP7A	REEP6	ERCC1	IFT88	IDH3B	FAM161A	HGSNAT	B4GALT7	COL3A1	LAMA3	AEBP1	ERCC8	PDE6A	KLHL7	ABCA4	DHX38	GJB2	COL5A1	OCRL	DSE	CYP26C1	ROM1	MBTPS2	SLC39A13	SPATA7	RPE65	ITGB4	RDH12	KRT14	ADA2	PRPF6	TNFRSF11B	CRX	NRL	IDH3A	LEMD3	ERCC4	BBS2	ARL6	C1S	TOPORS	SNRNP200	CARMIL2	GUCA1B	IKBKG	CNGB1	PLOD1	CERKL	CPOX	B3GALT6	RP1L1	COL1A1	CLDN1	ZNF408	CA4	NPPA	CFI	FERMT1	PDE6G	NCAPG2	NGLY1	ITGA6	RBP3	PRPH2	SAG	IMPG2	RGR	MAK	AGBL5	KIAA1549	CDHR1	NLRP1	RPGR	ARL3	RHO	SCAPER	ERCC6	CHST14	ADAMTSL2	BEST1	CNGA1	SH3BP2	MERTK	COL6A3	OFD1	PRCD	EYS	PRPF8	UROD	ARHGEF18	ZNF513	RHOA	DST	RP9	EP300	FSCN2	TTC8	TUB	DHDDS	ARL2BP	ADAMTS2	IFT172	TGFBR1	PDE6B	COL17A1	SLC35C1	PKP1	CLRN1	FLNA	PRDM12	NCSTN	MAP3K7	GATA1	TULP1	COL6A1	PRPF4	HLA-A	PRDM5	CRB1	C1R	CFAP418	RLBP1	SEMA4A	HLA-DRB1	GJB6	PRPF31	AHI1	PPOX
HP_ABNORMAL_ARACHNOID_MATER_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ARACHNOID_MATER_MORPHOLOGY	SCN1A	SACS	GANAB	PKD2	BICC1	NARS1	WAC	GPSM2	NRAS	ZNFX1	SHANK3	ADAT3	NOTCH3	OFD1	PUS3	PI4KA	RTTN	SON	SH2B1	FGFR1	ALG9	OTUD5	SCN2A	PUF60	XPNPEP3	FOXC2	EBP	FGFR2	PPP2R5D	DNAJB11	NEK1	DNAJC19	ATP6AP1	KRAS	TMEM231	PKD1	ARID2
HP_TONGUE_THRUSTING	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TONGUE_THRUSTING	UBE3A	OCA2	GABBR2	FOXG1	GRIK2	CDKL5	SMC1A	DDC	BRAF	MECP2	KIF15	NTNG1	SHANK3
HP_CEREBRAL_VISUAL_IMPAIRMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CEREBRAL_VISUAL_IMPAIRMENT	MT-TW	CHD3	PTCH1	SPATA5	YIF1B	KAT6A	DCPS	CACNA1I	NCDN	TBCK	CDKL5	BRAF	CEP85L	HK1	DPM1	SNRPN	MED25	SHH	DOCK7	MT-TL1	RRM2B	PIGC	CDH15	MT-ND5	ZC3H14	SIX3	KIF1A	MT-TV	TIMM8A	LMNB1	TGIF1	STAG2	MAPK8IP3	POLG	GABRB2	AHDC1	PSMD12	TRAPPC9	SARS1	GRIK2	VPS51	TWNK	CDON	FOXH1	DLL1	ERBB4	MYT1L	FGF8	FGFR1	ZIC2	RNF13	CACNG2	CERT1	GLI2	NADK2	DIAPH1	C12orf4	TDGF1	GABRB1	PIGT	CC2D1A	NR2F1	IQSEC1	CHMP1A	RALGAPA1	CAMK2B	MED12L	GAS1	FMN2	GRIN1	TSEN34	MBD5	ZMYND11	CIC	FRRS1L	SHANK3	PPP2R1A	STIL	TSEN15	SLC25A1	TRAPPC2L	TRPM3	TBC1D20	SMC1A	VPS11	ASH1L	ST3GAL5	NBEA	SEPSECS	CUX1	KIRREL3	PIGS	MT-ND6	SELENOI	CLCN6	CACNA1B	MBOAT7	TCF4	HNMT	MT-CO3	CHAMP1	NAGA	SLC25A4	COPB2	DEAF1	NODAL	MTHFS	CRBN	POLG2	COQ2	TELO2	GRM7	TTC5	RERE	EPB41L1	RAB18	TSEN54	LINS1	TUSC3	DISP1	LMAN2L	GNB1	TANGO2	UBE4A	NSUN2	VAMP2	EZR	AMPD2	ASNS	FCSK	TRAF7	PIGP	AFF3	MT-TF	RSRC1	ADNP	TNIK	POGZ	MT-CO2	ARHGDIA	GABRA2	CLIP1	PRICKLE2	SCN1A	RAB3GAP1	COX6B1	CCDC47	MT-TC	WASHC4	TSEN2	PGAP1	CAMK2A	SPTBN4	RAB3GAP2	HIVEP2	PET100	CC2D2A	PDSS2	HECW2	PHGDH	PPP3CA	UFSP2	NDST1	SCN3A	PIGY	MT-CO1	GRIN2B	SET	EEF1A2	NAA20	SON	TECR	FBXO31	SLC12A2	DYNC1H1	MT-CYB	P4HTM	ADARB1	KDM5B	SPATA5L1	SLC45A1	SETD1B	PRSS12	B3GALNT2	FOXRED1	TUBGCP2	TRAPPC12	KCNQ5	CRADD	CACNA1D	FDFT1	CLCN4	METTL23	ST3GAL3	EMC1	KIF5A	ALKBH8	COG5	CLTC	AIMP1	DOCK8	SLC35A2	FGF12	RAB11A	ATN1	PIGU	EDC3	MED23	MT-TS2	MAN1B1	CSNK2B	PIGA	BRSK2	GRIN2D	NEUROD2	PIGQ	SYNGAP1	MT-TQ	TAOK1	MT-TK	GLYCTK	MT-ND1	NEMF	AP1G1	NARS2	CACNA1E	PYCR2	POLR3GL	PARS2
HP_ABNORMAL_GLIAL_CELL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_GLIAL_CELL_MORPHOLOGY	TSC1	TREM2	PRNP	CDKN2B	TSEN54	ETFDH	GRN	L2HGDH	TBCD	PLA2G6	SCO2	AIFM1	CHCHD10	ERBB2	ATXN3	TYROBP	CHMP2B	TFG	SURF1	VCP	GDAP2	POLG	TBP	TSC2	YY1	MLH1	CDKN1A	APC	NUP62	HSD17B4	C9orf72	NF2	NF1	RANBP2	MSH3	MT-ATP6	MAPT	CYP27A1	LRRK2	IDH1	SNCAIP	LAMA2	DNAJC13	NSD1	EIF2B2	LRPPRC	AKT3	SQSTM1	MTOR	CDKN2A	SNCA	SETD2	RPS20	STRADA	ZNF335	PMPCA	KMT2C	MSH2	SEMA4A	PLP1	ERCC6	SERPINI1	NBN	AP4M1	UBQLN2	SETBP1	EPCAM	NDUFB8	NAXD	PMS2	IFNG	TMEM106B	LONP1	POT1	MDM2	PIK3CA	NDUFAF3	EHMT1	RELA	TLR3	ATXN8OS	EIF2B1	APC2	EIF2B4	FBXO7	TP53	THOC2	AVP	MT-TT	DYRK1A	TARDBP	MLH3	GLUD2	HTT	MAN2B1	TGFBR2	NGLY1	KCNT1	SLC25A46	VRK1	EIF2B5	KRAS	PMS1	CSF1R	SLC30A10	GBA	CDKN1B	CHEK2	ADAR	FUS	ETFB	SMO	LMNB1	ATP6V1A	MSH6	ERCC8	BRAT1	TBK1	NR4A2	PSEN1	ATXN2	ADH1C	ZFTA	GIGYF2	LRP5	MEN1	BRCA2	PAX2	BMPR1A	ARX	EIF4G1	VPS35	PDHA1	MOCS2	FAN1	PRKN	COX15	PIGA	KDM3B	NDUFS2	IDH2	EIF2B3	CDKN2C	ETFA	MOCS1	FARS2	NARS2
HP_ABNORMAL_ASTROCYTE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ASTROCYTE_MORPHOLOGY	TSC1	APC2	TREM2	PSEN1	TMEM106B	TSC2	APC	MTOR	CDKN2A	TP53	SETD2	STRADA	GRN	PMS2	AIFM1	ERBB2	CHMP2B	BRCA2	VCP	POLG	IDH1	MLH1	MAPT	NUP62	C9orf72	SLC30A10	PRNP	NF2	ERCC6	MSH3	CHEK2	NF1	IFNG	IDH2	MT-ATP6	ADAR	SQSTM1	POT1	MDM2	LAMA2	MSH6	ERCC8	NSD1
HP_ABNORMAL_THORACIC_SPINE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_THORACIC_SPINE_MORPHOLOGY	WDR81	MOGS	PLOD1	CHRND	PIK3R2	MGAT2	GBA	VPS13B	DOK7	CHRNE	MAN2B1	ANKRD11	SPRTN	IARS2	NEK9	AGRN	DYM	AIFM1	RYR1	LRP4	VPS33A	COL2A1	GNPTAB	ERCC3	TMEM231	AMER1	MYPN	PIK3C2A	SGCA	PUF60	MPLKIP	PEX5	SCN4A	POP1	ZMPSTE24	XYLT2	FGFR3	CYP27A1	RNF113A	ERLIN1	TRPV4	GTF2E2	RBBP8	MIR140	CDH11	HINT1	COL13A1	SLC26A2	PRKG2	SC5D	FLNB	ALDH3A2	TPM3	TRAPPC2	PCGF2	LMNA	SMARCAL1	AEBP1	DMD	PHF8	MUSK	NPR2	KY	GDF3	MED12L	TONSL	TUBB3	KIF22	ALMS1	LHX3	CHRNA1	GUSB	NEPRO	MTRFR	CHRNB1	SOX5	GTF2H5	TARS1	CCN6	TBX5	DES	NARS1	FLI1	AK9	RAPSN	ITCH	SRD5A3	ERCC2	EXTL3	AP1G1	PYCR2	TPM2
HP_ABNORMAL_LUMBAR_SPINE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LUMBAR_SPINE_MORPHOLOGY	NEPRO	POP1	SC5D	TRAPPC2	ERLIN2	CCN6	MGAT2	GBA	FGFR3	NPR2	MAN2B1	COL2A1	CDH11	MED12L	EXTL3	ATG7	RPS6KA3	NTRK1	KIF22	VPS33A	LHX3	GNPTAB	SLC26A2	BMPER	FLNB	AMER1	GUSB	POLR3GL
HP_SELF_INJURIOUS_BEHAVIOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SELF_INJURIOUS_BEHAVIOR	KAT5	UNC80	RPL10	CACNA1I	RTTN	NEUROD2	NDN	VPS13A	SMG8	MGAT2	SNRPN	INPP5E	ALG14	TKT	CDH15	SLC6A17	HERC2	SCN2A	KIF1A	FBXW11	LARP7	CDH2	TRIO	NIPA1	SATB2	ODC1	PRKCZ	DCHS1	TUBG1	CDKL5	ERBB4	UBE4B	HDAC4	MYT1L	HPRT1	CACNG2	CHD7	GRIA3	NEXMIF	KMT2C	CREBBP	ATG7	ELP2	MADD	NTRK1	FOXP1	DPAGT1	CNTNAP2	PAH	GNAO1	CTNNB1	RNU7-1	SEMA3E	WAC	SCN11A	KIF5C	TSC1	NALCN	CAMK2B	MED12L	KCNAB2	ABCA12	GRIN1	SLC1A4	GLS	MBD5	PIGQ	ZMYND11	CIC	TRPM3	CLCN3	DLL1	NDP	ASH1L	SLC6A8	NBEA	OCRL	CUX1	KIRREL3	RAI1	MKRN3	TCF4	MMP23B	ARX	KIF15	NIPBL	CHAMP1	DEAF1	PDPN	MAGEL2	NDE1	KCNA1	SOX5	SHANK3	OCA2	PRDM16	POGZ	RERE	EPB41L1	NAA10	SYT1	HDC	NPAP1	DHCR7	MAPK1	BCOR	VAMP2	TMCO1	EHMT1	PWAR1	AP1G1	SLC6A4	TRIM8	HSPG2	PIGF	SPEN	TMEM231	KMT2E	FAT4	AUH	PRICKLE2	DPYD	USP7	FMR1	CAMK2A	GRM7	HIVEP2	HECW2	PPP3CA	GAMT	ZBTB20	SIM1	NIPA2	GRIN2B	SMARCC2	SET	SPATA5	EEF1A2	OPHN1	NTNG2	TSC2	CASZ1	SIK1	KPTN	DYNC1H1	DNM1	KDM5B	PNKP	DMXL2	MAOA	SETD1B	FLII	HNRNPH2	CASK	CLTCL1	SPOP	SCN1B	ATRX	KCNQ5	GRIA2	EP300	TAOK1	LUZP1	PWRN1	CLTC	ASXL3	DOCK8	RAB11A	SNORD115-1	ADSL	CSNK2B	IQSEC2	AP1S2	TREX1	RLIM	GABRD	SKI	UBE2A	THOC2	ATP1A1	ALDH5A1	BRSK2	SYNGAP1	CLCN4	PIGP	SNORD116-1	SLC25A22	RPS6KA3	WASF1	GJB2	NFIX	NAT8L	SLITRK1	SVBP	GABBR2	HTR2A	GATAD2B
HP_HYPOPLASIA_OF_THE_EAR_CARTILAGE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOPLASIA_OF_THE_EAR_CARTILAGE	TP53RK	WDR4	LAGE3	NUP133	CD96	TPRKB	OSGEP	NUP107	WDR73	DDR2
HP_MEDIASTINAL_LYMPHADENOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MEDIASTINAL_LYMPHADENOPATHY	BCL6	PTPN22	P4HA2	HLA-DRB1	EWSR1	EIF2AK4	NCF1	FOXP1	CYBA	IRF4	CYBB	HLA-DPB1	BCL2	PRKCD	BTNL2	HLA-B	NCF2	WT1	TERT	MAGT1	BCL10	CYBC1	RASGRP1	NCF4	APOE	BIRC3	MALT1
HP_GASTROINTESTINAL_STROMA_TUMOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GASTROINTESTINAL_STROMA_TUMOR	SDHA	MS4A1	SDHB	SDHD	KIT	CR2	NFKB1	SDHC	CD19	PDGFRA	ICOS	TNFRSF13C	NFKB2	PRKCD	TNFSF12	CD81	TNFRSF13B	NF1
HP_HYPERCOAGULABILITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERCOAGULABILITY	PROC	F5	F9	PROS1	HRG	AGGF1	DLD	ANK1	EPB42	GATA2	SLC4A1	THBD	SPTB	HBB	SPTA1	MYD88
HP_LICHENIFICATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LICHENIFICATION	TNFRSF1B	CTLA4	OSMR	NTRK1	LBR	FLT4	COL7A1	GJC2	CD28	CSTA	CARD14	HLA-DRA
HP_GERM_CELL_NEOPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GERM_CELL_NEOPLASIA	APC2	ERBB2	AR	SRY	DMRT3	VAMP7	KIT	RNF43	MAP3K1	ZFPM2	SETD2	NR0B1	CDKN1C	KEAP1	MNX1	BCL10	GATA4	SOX9	CDH1	KCNQ1OT1	IGF2	PIK3CA	WT1	NR5A1	DHH	KCNQ1	PAX6	CDKN2A	TP53	SETBP1	DICER1	OPCML	DHX37	PRKAR1A	CHEK2	CTNNB1	FGFR3	MDM2	WWOX	MSH3	STK11	PRKN	STS	NSD1	AKT1	FGFR2
HP_LARGE_FACE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LARGE_FACE	APC	SETBP1	SUFU	TGFB3	NTNG2	COMT	TPM2	TMEM237	PRKACB	MYO9A	AGRN	ZMIZ1	PYROXD1	CEP120	TRMT1	MKS1	BRAT1	BCAS3	KANSL1	XRCC4	KDM4B	AGA	AIP	FLNB	AP1S2	PSMD12	MED13	EYA1	CEP41	DOCK3	FBXO11	C12orf57	TMEM67	MED27	NFIB	CLCN3	FAM149B1	PAK1	CC2D2A	CHRNE	KBTBD13	IDUA	AHI1	SATB2	MYPN	TBX1	TTC26	FMR1	ATAD3A	MAN1B1	BIN1	ALG12	SLC25A1	MSTO1	SLC16A2	PIBF1	INPP5E	CPLANE1	SLC2A10	PEX13	SRCAP	ACTA1	TPM3	NHS	CHRNG	EBF3	TCTN1	HDAC4	RPL10	NSDHL	ARVCF	ACTL6B	ALKBH8	SCUBE3	TNRC6B	SNAP25	EIF2S3	ATG7	KAT6A	UFD1	TMEM216	EMC10	CRKL	HUWE1	SLC12A6	DPYSL5	DDX3X	SMAD3	PTCH2	BRWD3	NSD1	TANC2	BRAF	ERCC1	PTPN23	NONO	FGF3	MTM1	TRIP12	ITGA7	SYT2	DDX6	SNX14	COL3A1	HIRA	CEP290	SETD2	CHAT	MADD	MAPK8IP3	STRADA	SGCG	KCNMA1	PHF8	PALS1	CRLF1	TET3	MYH3	OCRL	WNT7A	CHAMP1	FBXW11	WDFY3	ACTL6A	TCF20	RAI1	MMACHC	BPTF	MYH7	TOPORS	HERC1	UPF3B	B9D1	MED12	NPHP1	PDE4D	APC2	POLA1	TONSL	SMS	MYL2	MAP3K20	MAPK1	BCORL1	RLIM	KIAA0586	SEC24C	ERCC4	GALNT2	SLC9A7	TSPAN7	PTCH1	PPP1R12A	CCDC32	TBL1XR1	PQBP1	AKT1	RIC1	MYT1L	PRKACA	HS2ST1	CAMTA1	ATP7A	ANKRD17	KCNK9	PBX1	SPEN	NEB	ADAT3	CCDC174	CHRNB1	SATB1	SPEG	NSUN2	ASXL1	DDR2	RYR1	MAP2K1	MAP2K2	ZNF423	SNAP29	VAMP1	SLC12A2	ERCC8	TAB2	PPP2R5D	OFD1	SOX6	HNRNPK	HTT	UBR7	KMT2E	KATNIP	CBY1	STEEP1	UBE3B	MGP	PRDX1	RAB39B	KIAA0753	FLNA	CEP104	SLC5A7	GRIA4	HPDL	ASXL2	KIF7	RUSC2	SELENON	TAF1	OPHN1	SYNGAP1	MEIS2	SLC18A3	KRAS	COL13A1	MRAS	PMM2	RMRP	LMBRD2	NBAS	SLC9A6	TRAIP	SIN3A	TCF7L2	GPR101	JMJD1C	PUS7	TLK2	CLCF1	BCR	TCTN3	RPGRIP1L	FLII	SVBP	PCGF2	SYNCRIP	PDE6D	GFPT1	NF1	KLHL41	SIX1	HYLS1	ARMC9	RAPSN	POC1A	DEAF1	TTN	SLC6A8	NKAP	AGO2	CLCN4	HRAS	HACD1	ARL3	CSPP1	RNF2	WASF1	PTEN	MOCS2	NFIX	PIGU	ARL13B	TMEM231	NTNG1	NFIA	TMEM138	ANKRD11	SPTBN1	B3GLCT	ZNF711	CNOT3	ERCC6	UBE2A	CCDC115	PURA	RREB1	IQSEC2	KAT8	CEP57	SETD1A	MOCS1	OTUD6B	EXTL3	GP1BB	TRAPPC4	MID2	RECQL4	BCOR	JARID2	PIGK	FBN1	TCTN2
HP_PANCREATIC_FIBROSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PANCREATIC_FIBROSIS	B9D2	DYNC2I1	TMEM107	CC2D2A	PTRH2	TCTN2	B9D1	CSPP1	NPHP3	CEP290	TXNDC15	TMEM237	RPGRIP1	TCTN1	TMEM67	TMEM216	TMEM231	RPGRIP1L	TCTN3	MKS1	NEK1
HP_NEOPLASM_OF_THE_PARATHYROID_GLAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_PARATHYROID_GLAND	CDC73	GCM2	MEN1	TSC1	SLC12A3	CDKN2B	CDKN1B	NF1	FLCN	IDH2	CASR	TSC2	CDKN2C	CLCNKB	RET	IDH1	CDKN1A
HP_HYPERTENSIVE_CRISIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERTENSIVE_CRISIS	TBX1	CCN2	ARVCF	SEC24C	RREB1	COMT	MYMK	CCR6	GP1BB	IRF5	UFD1	HIRA	HLA-DRB1	CAV1	MLX	HLA-B	IL12B	JMJD1C
HP_ABNORMAL_SOFT_PALATE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SOFT_PALATE_MORPHOLOGY	ORC1	PTCH1	TGFB3	SUPT16H	SELENOI	TP63	ORC4	CDC6	RAD21	B3GALNT2	GATA1	ROR2	RAD51	HYLS1	SMAD4	MSX2	SNRPN	SHH	SIX3	FANCC	EIF4A3	TGIF1	STAG2	PIEZO2	DAG1	DGCR6	RPS23	PIGW	MED12	RPL18	RPS17	RPS7	TMEM231	AMER1	RXYLT1	FANCF	ERCC4	KAT6B	FANCD2	XYLT1	RPS28	DDX59	COL11A2	UBB	MYLPF	CDON	RPL35	GRHL3	FOXH1	DLL1	FGF8	NECTIN1	SEMA3E	FGFR1	ZIC2	PIGL	TGFBR2	KIF14	DLG1	RPL5	CUL3	GLI2	KMT2C	LARGE1	EDN1	CDH11	FGFR3	FANCL	DDX3X	SMAD3	RPS27	NEK1	TDGF1	FGFR2	POMT1	FKTN	IRF6	B4GALT7	RECQL4	MEG3	PALB2	GAS1	RPS20	PGM1	MAD2L2	ZEB2	FANCA	ALG3	STIL	PIGV	ARHGAP29	TBCE	SMC1A	RPL27	FANCG	FGF10	SMS	TGFBR1	SPTBN1	COL4A1	EYA1	RPL35A	RAI1	KCNN3	RPS10	HAAO	SLC39A13	PLCB4	RPS26	TXNL4A	POMGNT2	TBX1	NODAL	IFT140	MAP3K7	POLA1	CHD7	RPS15A	GNB2	MSX1	DISP1	DLK1	FANCB	SNRPB	CDC45	FKBP14	FANCI	FTO	ESS2	ZPR1	KCNK9	FANCM	RTL1	RPL15	SPECC1L	DYRK1A	SPEG	SMCHD1	RYR1	TUBB6	USP9X	BRIP1	GMNN	TBX22	DLX4	COL2A1	PGAP3	SLX4	PRR12	FKRP	BIN1	BICRA	SMPD4	BMP4	PGAP2	STAC3	POMGNT1	DGCR2	HNRNPK	RPL11	SON	TCTN3	NONO	RPL26	RAD51C	KIF7	POMK	FANCE	COL11A1	GLI3	SIAH1	KCNH1	IGBP1	RPS24	SLC25A19	SIX1	SEC23A	PIGO	UBE2T	TTN	CRPPA	TCOF1	PPP1CB	SATB2	ADA2	RPS19	PTDSS1	HYAL1	B4GAT1	DHCR24	GNAI3	TGFB2	IPO8	FLNA	POMT2	POLR3A	RPL31	PGAP1	SHMT2	SMARCD1	TTC37	SETD5	SF3B4	RLIM	RFWD3	DLG3	RPS29	PIGY	DGCR8	BRCA2	TSR2	XRCC2	ALG9	THOC6	NXN	CDT1	WDR35	ATP6V1B2	DVL1	BRCA1	AEBP1	BGN	RNU4ATAC	ORC6	BCOR	AMMECR1	SERPING1	CDH1
HP_ABNORMAL_EATING_BEHAVIOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EATING_BEHAVIOR	NDN	PREPL	MAPT	ADNP	MYO9A	HSPG2	POMC	YY1	AGRN	SPEN	ARID2	RERE	KCNJ11	SLC5A2	PTPN22	LEPR	DPYD	CACNA1A	SNRPN	VAMP1	LARP7	SIM1	DPF2	ABCC8	MC4R	ACAT1	SATB2	OCA2	PSEN1	SLC25A13	MAN1B1	SETD2	SLC25A1	PRKCZ	UBE3A	UCP2	SLC5A7	IFT74	HTT	SMARCD1	GRN	UBE4B	MEN1	SMARCA4	SYNGAP1	PCDH19	SLC18A3	NTRK2	CASZ1	NEXMIF	SNAP25	GPR101	MAGEL2	COL13A1	HNF1A	ELP2	CLCNKB	ZNF699	PLA2G6	KCNJ10	SLC2A3	SYT2	PACS1	SLC12A3	SOX4	SMARCB1	SLC3A1	KCNAB2	SMARCC2	HERC2	CHAT	BSCL2	CTNNB1	LEP	BRAF	GNAS	AGPAT2	LUZP1	SCN4A	ARID1A	PWRN1	MBD5	ALMS1	DHPS	MKRN3	MMP23B	SNORD115-1	ATP10A	NKX2-1	ITPR3	SOX11	PDPN	SMARCE1	PCSK1	PRDM16	ARID1B	GABRD	SKI	BBS9	IL6	SH2B1	SLC7A7	NPAP1	MN1	SNORD116-1	PWAR1
HP_BULIMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BULIMIA	SNRPN	NEXMIF	MAGEL2	NDN	OCA2
HP_VASCULAR_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VASCULAR_NEOPLASM	KDM6B	NF1	PIGG	GAS1	BIN1	CTSA	FGFR1	GFI1	BRAF	MTOR	MGAT2	KANSL1	KRAS	ESCO2	HRAS	TBC1D24	SLC25A11	CTBP1	KRIT1	MAX	TSC2	GNAQ	NELFA	GNPTAB	ANTXR1	PUF60	LETM1	TSC1	NODAL	NRAS	PTEN	MYF6	RRAS2	DLST	NSD2	RASA1	MTMR14	HOXD13	VHL	FLT4	IDH1	MPL	SMAD4	SLC26A2	NSD1	SDHD	FZD2	DIS3L2	RECQL4	SETD2	CPLX1	SHOC2	SDHC	WASHC5	SDHB	PTCH1	NDP	CYP26C1	ELANE	FGFR2	SRP54	ACVRL1	SIX3	MDH2	CDON	SETBP1	DPM1	POR	EIF2AK4	SUFU	KIF1B	ARID1B	IFNG	TMEM127	AKT1	NOTCH1	DHCR7	KDR	CREBBP	DVL1	DISP1	ARL6IP6	TCIRG1	USF3	ATP6V1B2	APC2	SEC23B	SPEN	RET	DNM2	FGFRL1	FGF8	GLI3	ASXL1	PIK3CA	MAP2K1	CCM2	SDHAF2	TDGF1	GPC6	OFD1	ZIC2	CALR	GDF2	DVL3	TGIF1	STAC3	PDCD10	HS2ST1	FOXH1	KLLN	TEK	MSL3	CCND1	GNA14	TFAP2A	BMPR1A	CD96	CCDC22	SEC23A	EPHB4	PTH1R	WNT5A	PPP1CB	JAK2	FH	MAP2K2	TET2	GLI2	EP300	LEMD3	SHH	SDHA	IDH2	DLL1	TBX2	ENG	SRD5A3	EXTL3	AGGF1	RYR1
HP_NEOPLASM_OF_THE_RECTUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_RECTUM	SEC23B	SDHD	POLE	STK11	RNF43	MSH6	RPS20	POLD1	KEAP1	SDHC	MLH3	PTEN	PDGFRA	NTHL1	TGFBR2	BMPR1A	AXIN2	SEMA4A	KIT	FAN1	CDKN2A	MSH2	TP53	SDHA	KRAS	PMS1	DICER1	PIK3CA	EPCAM	SMAD4	SDHB	PMS2	ENG	PRKAR1A	CHEK2	MLH1	MDM2	AKT1	MUTYH	KLLN	MSH3	USF3	GREM1
HP_ABNORMALITY_OF_THE_HUMERORADIAL_JOINT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_HUMERORADIAL_JOINT	FGF9	AFF3	CD96	POR	EXOC6B	DONSON	B4GALT7	EXTL3	TBX15	FGFR2	ASXL1	RNU4ATAC	CYP26B1	SKI	B3GALT6	CLCN3	NOG	WNT7A	GPC6	SLC39A13	FLNA	PRKAR1A	B3GAT3	GDF5	BMP1	COL5A1	NIPBL	KIF22	COL1A1	EP300	LMX1B	MAP3K7	FZD2	SCARF2	GSC	IFITM5	ATR	SRCAP	ERCC1	CHRNG	ARID1B	PTDSS1	SHOX	NOTCH2	COL27A1	CREBBP	FGFR1	COL5A2	CHST3
HP_CHEST_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHEST_PAIN	NF1	SCNN1G	CALR	ENG	WWOX	MPL	TGFBR1	MYBPC3	RET	LOX	IRF4	HLA-B	MAT2A	MEFV	BAP1	ELN	CFTR	SCN4A	SDHAF2	CTLA4	PRKAR1A	SLC25A11	COL4A6	RNF6	BTNL2	HLA-DRB1	VHL	SCNN1A	PRKG1	HLA-DQB1	TNFRSF1A	EXT1	PLN	ACTA2	MT-TK	NOS1	PNPLA2	TSC1	SPP1	DNMT3A	THPO	APC	EXT2	DLST	TET2	COL4A5	SDHC	RASA1	WAS	TGFBR2	WIPF1	IRAK1	MLX	HLA-DQA1	IL12B	FBN1	SDHB	STAT4	TMEM43	MFAP5	JAK2	SMAD3	GNAS	SMAD4	SH2B3	PRTN3	SMAD2	HLA-DPA1	MAX	MYH11	NOD2	TP53	FH	DBH	TNNC1	CRLF1	TGFB2	MYH7	FOXE3	MEF2A	MDH2	HLA-DPB1	TSC2	MYLK	MYL2	SLC34A2	KIF1B	HBB	CTNNB1	TGFB3	SDHA	COL3A1	CDH2	HEY2	DLEC1	TMEM127	SCNN1B	STX16	EPAS1	SDHD	DPM3	PIGA	PTPN22	PPOX
HP_ATELECTASIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ATELECTASIS	HYDIN	STAT3	ZMYND10	COMT	DRC1	B3GALT6	DNAI1	CCDC40	RSPH3	HIRA	MCIDAS	PLEC	TP73	DNAH5	STK36	GAS2L2	ASAH1	CCDC103	DNAAF11	TBX1	CFAP300	DNAAF2	SPAG1	ODAD1	DNAL1	GAS8	TTC12	OCRL	CCDC39	CCNO	RIPK4	RSPH9	ODAD2	SFTPB	ABCA3	CFAP298	DNAAF1	FOXJ1	CXCR4	TSC2	NEK10	DNAAF4	ODAD3	ODAD4	DNAAF5	LRRC56	RPGR	TSC1	RSPH4A	RSPH1	DNAAF3	DNAH9	CCDC65	PAX3	DNAJB13	ARVCF	SEC24C	OFD1	RREB1	DNAH11	GP1BB	NHLRC2	UFD1	NME8	LAMA2	NKX2-1	DNAI2	CFAP221	SPEF2	DNAH1	DNAAF6	SFTPC	JMJD1C
HP_ESOPHAGEAL_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ESOPHAGEAL_NEOPLASM	CTHRC1	ASCC1	SDHA	RNF6	WWOX	STK11	STAT1	SDHB	TGFBR2	APC	PRKAR1A	RAD21	RHBDF2	KIT	FH	DLEC1	COL4A5	PDGFRA	BLM	COL4A6	MSR1	AAGAB	DCC	MYH11	SDHC	COL14A1	LZTS1
HP_SCHIZOPHRENIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCHIZOPHRENIA	PRODH	ARSG	FLI1	DRD3	DNMT3A	COMT	SNCA	DAOA	CIB2	KRT81	MT-TE	TBX1	HIRA	RTN4R	CHRNA7	ARSA	KRT83	GIGYF2	KRT86	APOL4	WHRN	MTHFR	SETD1A	AMACR	EIF4G1	VPS35	MT-TS2	MSTO1	USH1G	NIPA1	MED12	CDH23	NKX2-1	SYN2	WFS1	CHI3L1	GJA5	HTR2A	APOL2	ESPN	TUBG1	MYO7A	NIPA2	PSAP	GBA	HARS1	CLRN1	DSG4	PCDH15	FTSJ1	CAT	UPF3B	ARVCF	SEC24C	ZDHHC9	USH2A	RREB1	LRRK2	ATP2A2	GP1BB	ATG7	UFD1	RBM12	DNAJC13	SHANK3	USH1C	ADGRV1	PDZD7	CEP78	JMJD1C	GJA8
HP_MANIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MANIA	PRKAR1A	TBCK	FLI1	MT-ND6	DNMT3A	COMT	PDE11A	RPS6KA3	TBX1	HIRA	CHRNA7	CEP85L	SMPD1	RRM2B	MT-TF	CLCN4	VPS16	PDE8B	MT-TS2	MT-TW	MT-CO3	PRKACA	MECP2	SLC25A4	SLC25A13	ARMC5	MT-CO2	TWNK	MT-TH	POLG2	FA2H	MT-TL1	GNAS	MT-CO1	ARVCF	SEC24C	RREB1	MT-ND1	MT-ND4	ATP2A2	GP1BB	UFD1	POLG	MT-ND5	MT-TQ	JMJD1C
HP_ABNORMALITY_OF_SALIVATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_SALIVATION	SLC12A5	MECP2	PRPH	ZEB2	CLCN4	SRPX2	VPS13A	AP4B1	TREM2	QDPR	LBR	GPT2	ZNF41	PCDH19	IRF5	GDI1	GABRA1	FTSJ1	OPTN	DLAT	GSN	CHRM3	SATB2	GRIK2	SCN9A	CHMP2B	POLR3A	GLE1	FIG4	PDE10A	FGF10	UBE3A	SNRPN	ALS2	CCN2	CERT1	NEXMIF	SLC9A7	EIF2S3	HPDL	FGFR3	STRADA	FOXP2	CNKSR2	FOXP1	FOXG1	PLA2G6	DEAF1	PFN1	SLC12A2	GRIN2A	POU3F3	TUBB2B	DMD	ARHGEF6	TP63	SCN1A	AP4S1	SCN2A	IQSEC2	SPTBN1	AP4E1	ACSL4	POLR3B	TBK1	AP4M1	FGFR2	PRPS1	HLA-B	SYP	KIF15	TASP1	ATP10A	SETD5	HERC1	EPHA4	TH	DCTN1	ZNF711	ATRX	CAV1	TSPOAP1	TSPAN7	DAO	ATP7B	FBLN1	MED12	NRXN1	LMNB2	USP9X	MATR3	CFAP410	RTL1	SPEN	GABRG2	IL1RAPL1	GNS	GFM2	MRE11	ATP6AP2	VCP	TAF15	IKZF1	PON1	SOD1	ATP1A3	CCR6	ATXN2	PTS	PMP22	DLG3	GLT8D1	OCA2	SIM1	MID2	PON3	CLDN11	MEG3	NTNG2	FRMPD4	ARX	HNRNPA1	BCORL1	ALG13	ZBTB11	RAB39B	NONO	NEK1	PON2	PI4KA	GCH1	STEEP1	SLC9A6	PPARGC1A	FUS	CHCHD10	PCGF2	HNRNPH2	AGTR2	SLC16A2	NOD2	C9orf72	SCN1B	SMARCA2	MED27	NEFH	UPF3B	SH3TC2	RPS6KA3	TANGO2	ANXA11	CCNF	ZC4H2	ADGRG1	SHMT2	ANG	SATB1	PTCHD1	DLK1	UNC13A	USP27X	PAK3	SQSTM1	VAC14	CLDN10	ZNF81	VAPB	EXTL3	HLA-DRB1	ERBB4	MAGEL2	TARDBP	UBQLN2	EDARADD	HCFC1	SPART	SERPING1	GABBR2
HP_GANGRENE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GANGRENE	CTLA4	PTPN22	IL12A-AS1	NIPAL4	AGXT	HLA-DRB1	IL12A	NUMA1	BCOR	IFNGR1	MEFV	PRKAR1A	HLA-B	ABCA12	STAT3	C4A	TNFRSF1B	RARA	PRTN3	TLR4	ABCC6	ALOX12B	CYP4F22	HLA-DPA1	IL10	SULT2B1	TBL1XR1	LIPN	PROS1	KIF11	HLA-DPB1	KLRC4	TGM1	PML	IRF2BP2	P4HA2	CCR1	ERAP1	STAT5B	NPM1	CD28	FIP1L1	ALOXE3	SDR9C7	IL23R	CAT	NABP1	PROC	FAS	MLX	IL12B	STAT4	UBAC2	ENPP1	ZBTB16
HP_CLUBBING_OF_FINGERS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLUBBING_OF_FINGERS	TGFB1	BMPR1A	DSP	MUC5B	INTU	STK11	SLC34A2	SFTPA1	TERT	EIF2AK4	FCGR2A	SLCO2A1	ATP11A	TERC	PTEN	GJB6	NCKAP1L	PTH1R	SFTPA2	SLC5A6	FAM13A	DPP9	SFTPC	IL21	HSPG2	ABCA3	NLRP3	CD55	TLL1	RASGRP1	JAG1	HPGD	LRBA	PSMB8	PARN	RTEL1	CFTR	STN1
HP_CLUBBING_OF_TOES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLUBBING_OF_TOES	ERCC4	FANCM	SLX4	FANCD2	PIGL	RFWD3	RAD51	PALB2	UBE2T	RHBDF2	HPGD	SMARCA2	MAD2L2	BRCA2	XRCC2	FANCA	FANCC	BRIP1	SLCO2A1	FANCG	FANCB	UBE2A	FANCL	TLL1	RAD51C	BRCA1	FANCE	FANCI	FANCF
HP_VISCERAL_ANGIOMATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VISCERAL_ANGIOMATOSIS	PTEN	ENG	KRAS	FGFR1	TEK	GDF2	PTH1R	FGFR2	GNAQ	IDH1	SLC26A2	ACVRL1	AKT1	SMAD4	IDH2	PIK3CA
HP_ABNORMALITY_OF_THE_LYMPHATIC_SYSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_LYMPHATIC_SYSTEM	IFNGR1	IL12A-AS1	EPB41	IL12A	CTSA	DDRGK1	CCDC40	FCGR2A	PLXND1	CDKN2B	RRAS	NLRP3	GPC3	JAK3	AGA	FAH	CDC42	PIK3R1	CDK4	RIT1	TCIRG1	SUMF1	PNP	TSC2	TGFB1	KATNB1	TTC26	FGG	ATM	PSAP	NBEAL2	USB1	TPI1	ERAP1	ATRX	B9D1	CLCN7	UMPS	TWIST1	TRAC	CD3D	RSPH1	RSPRY1	IKZF3	PEX7	CTC1	MYCN	PHKB	TSC1	OFD1	DIS3L2	ESCO2	GBA	DEF6	RIPK1	PRF1	SPTA1	STAT4	FRAS1	HBA1	BCR	IFIH1	PSTPIP1	CASP8	RNU7-1	SEMA3E	HSD3B7	HBA2	MVK	ABCD3	CALR	POLR1D	HBB	SH2B3	STIM1	JAK1	HRAS	RSPH9	SGSH	LYST	ALMS1	IDH1	RTEL1	IL1RN	MIF	TTC37	FUCA1	UROS	ODAD3	RNASEH2C	JAK2	PIK3CA	SLC4A1	XK	DNAJB13	RHAG	TERF2IP	SLCO2A1	ACD	NPC2	NPHP3	AKR1D1	NCF4	DCDC2	SP110	PKHD1	PTPN22	LACC1	AIRE	IDS	MPL	CARD9	MYC	DNAH5	ADAR	LEMD3	REST	CCDC39	H19	DNAAF11	TBX1	GBE1	MAN2B1	SPAG1	KCNH1	ODAD1	RNF6	RABL3	FAM111A	KRAS	LIG4	NGLY1	GALE	NODAL	CD19	CTLA4	NLRC4	ADAMTS3	TNFRSF1A	MEGF8	POT1	SCNN1A	PIGM	POMP	MS4A1	TPP2	IL2RB	MINPP1	PEX5	GLIS3	ICOS	CCDC65	BTNL2	B4GALT1	ATP8B1	ERCC6	MICU1	ITCH	SH3BP2	TERC	ABCB11	TRIP13	LMNA	SPTB	ATP6AP1	SH2D1A	RNU4ATAC	STX11	IDUA	NLRP1	FASLG	VPS13A	SNX10	BRCA2	TET2	HLA-DRB1	GNE	FAS	TTC7A	CCND1	IFNG	GUSB	NLRP12	RHD	LIPA	RARB	C4A	CR2	TMEM107	UNC13D	TFE3	TMEM67	ADA	TNFRSF13B	SLC29A3	MKS1	RPSA	CXCR4	APOA1	ANTXR2	SCNN1B	IARS1	IL2RG	CDKN2A	NF1	ZNFX1	PTEN	FIP1L1	B2M	ANK1	YARS1	ALG14	SMPD1	PRKCD	COG4	IFT172	CDKN1B	RNASEH2A	GATA1	ADA2	ATP6V1B2	CAV1	IDH2	PTPN11	CASK	TNFRSF11A	RINT1	ZMYND10	LBR	SLC25A13	DRC1	XRCC4	STAT3	ASAH1	APOC2	RAF1	CTBP1	TCTN2	OSTM1	GLB1	DCLRE1C	CC2D2A	GSN	RAC2	TFAP2A	TALDO1	AICDA	PRKCZ	PTPRC	CENPF	INPP5E	CSPP1	CCDC32	PSMG2	TMEM237	ARPC1B	STEAP3	SCNN1G	FGFR2	BRCA1	NCF2	CD247	FGA	WAS	TNFSF12	IRAK1	UFD1	CCBE1	UBAC2	PALB2	CD27	HIRA	MCIDAS	CEP290	MYRF	KCNAB2	ERCC8	NPM1	SMAD4	AGPAT2	COG1	HYLS1	SOS1	TP53	RPGRIP1L	PSMB4	APOE	CD70	SDHD	PDPN	KLF1	PHKA2	CCR1	HGSNAT	RAB23	NRAS	SOS2	DLEC1	SEC24C	CDAN1	NOTCH1	NHP2	ZBTB16	WT1	TMEM231	DNAAF6	RTL1	RFWD3	B9D2	RUNX1	WWOX	HSPG2	CPLX1	CARD11	ALPK1	NCF1	ITK	CLDN1	EPB42	G6PC3	RAG2	ACVR2B	BAP1	ZAP70	SPEN	NFKB2	MPI	FOXF1	NEK9	CCNO	MAGT1	HABP2	RASGRP1	RBCK1	OCLN	EIF2AK4	FOXJ1	ASXL1	PSMB9	MAP2K2	OTULIN	DNAAF5	RPGR	MEFV	DGUOK	CHD7	IL2RA	MEG3	TCTN3	NEU1	KPTN	WIPF1	RRAS2	RNF168	CD81	TXNDC15	DNAI2	SNX14	SYK	PPARG	NUMA1	CBL	ATP7B	NOP10	FMO3	SCYL1	NOD2	MMUT	GPR35	RHCE	NKX2-6	STRA6	FCHO1	SOX10	TBL1XR1	MGMT	RELN	GAA	STXBP2	GPC4	SOCS1	NEK10	HBG1	RAG1	SETBP1	IL7R	TINF2	WDR1	EPG5	CCDC115	TGFBR2	GPIHBP1	CA2	RREB1	CDKN2C	SLC7A7	COX4I2	BCL10	RBM8A	RMRP	RAB27A	BTK	COG7	HYDIN	PKLR	CYP7B1	DKC1	COMT	SKIV2L	BRAF	LPIN2	DPM1	PIK3CD	G6PD	AK2	DNAAF2	TCF4	MED12	CDKN1A	PSMB10	ABCA1	POLR1C	DZIP1L	ELANE	IGKC	HLA-B	ALG1	ODAD4	GALK1	LRRC56	SPP1	CD28	XIAP	CASP10	MTHFR	DNAI1	NABP1	RASA1	LPL	TNFRSF4	FGB	GCLC	PHKG2	DNAH1	TRIM28	EWSR1	NAGLU	WDR35	TRPV6	MRAS	ZEB2	TNFRSF1B	CFAP300	HPGD	TRNT1	KCNN3	BIRC3	FLT4	IL6	SLC17A5	BTD	STAT1	SLC2A1	PRDM16	AKT2	CPOX	ABCB4	HK1	HBG2	NSD2	ABCG8	AKT1	ALG9	GATA2	LRBA	MYD88	BCL6	SCARB2	HEXB	CELSR1	BCOR	RERE	IL12RB1	BCL2	SEC23B	TLR4	DNASE1L3	KCNN4	PIEZO1	HAVCR2	GYPC	CYBB	PTPN2	PML	HJV	FERMT3	DNAAF4	GLRX5	SPRED2	LYZ	UNG	SLC30A10	HFE	POU6F2	NCKAP1L	FARSA	CDIN1	IGHG2	BLM	AP3B1	TCTN1	MCM10	FOXP3	TCOF1	CFTR	SLC39A4	CYBC1	BMP2	UROD	EPHB4	PTH1R	SAMD9L	ABL1	GAS2L2	FOXE1	SRSF2	SOX18	COG6	COG5	ANKRD55	DHCR24	ODAD2	MPIG6B	PEPD	CFAP410	MMP21	ARSB	USP53	DLK1	HLA-DPB1	PDGFRA	HAMP	TERT	DAXX	IL23R	NEK8	F5	GP1BB	MCM4	PHYH	OTC	NDE1	CFAP221	GNPTAB	MOGS	PLEKHM1	GPD1	STING1	IRF4	TMEM216	INPPL1	CTSK	TTC12	VPS33A	PSMB8	HMGA2	CFAP298	HSD17B4	IRF8	STAT5B	ALDOA	GAS8	FOXP1	MNS1	MPEG1	TNFRSF13C	CD40LG	DNAAF3	UBE4B	BACH2	ARVCF	NOTCH2	CASR	TBXAS1	SPEF2	ZNF699	AP3D1	NSMCE3	GDF1	RNASEH2B	SC5D	CD3E	VANGL2	RSPH3	PRKAR1A	NFKB1	BSCL2	SAMD9	TP63	MMP23B	DNAAF1	KIF3B	PALLD	TNFSF11	P4HA2	GNB2	RPGRIP1	SLC37A4	ZIC3	PARN	ERBB3	GINS1	ALAS2	GIMAP5	SAMHD1	EXOC2	CYBA	RASA2	FGFRL1	GNS	LCAT	FAT4	STK36	CCDC47	RARA	CAVIN1	DYNC2LI1	DNAL1	VPS45	BPGM	ACP5	IL10	SEMA4D	STAT2	CD40	CDON	PIK3C2A	ISG15	NDUFS4	PNPLA2	RSPH4A	THPO	COL18A1	DNAH9	HMOX1	GP1BA	CASZ1	POLR1B	LZTR1	JMJD1C	GPI	RORC	MEN1	LETM1	NPC1	CCDC103	LAT	LUZP1	MST1	SF3B1	CFC1	CFAP45	CTNS	KLRC4	IRF2BP2	ORAI1	TREX1	MITF	GABRD	SKI	WRAP53	COX10	WNT3	DNAH11	PEX2	NME8	MC1R	KIT	MALT1
HP_LYMPHANGIOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LYMPHANGIOMA	PTEN	CCBE1	PTH1R	IDH1	AKT1	COL18A1	FAT4	IDH2	ADAMTS3
HP_ABNORMALITY_OF_THE_TONSILS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_TONSILS	TBX1	IGKC	IDUA	IDS	SCNN1B	CYBC1	COMT	CA2	BTK	IL2RG	SCNN1A	HIRA	AKT2	MPEG1	ADA	CD40LG	IL2RA	RSPRY1	SCNN1G	ARVCF	SEC24C	RREB1	IGHG2	BLM	GP1BB	UFD1	RIPK1	DCLRE1C	ABCA1	ELANE	JMJD1C
HP_ABNORMAL_LYMPHATIC_VESSEL_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LYMPHATIC_VESSEL_MORPHOLOGY	FLT4	MPI	CCBE1	TSC1	TSC2	SOX18	RASA1	CELSR1	FAT4	FOXF1	HRAS	PIEZO1	IFNG	ADAMTS3
HP_ABNORMAL_PLACENTA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_PLACENTA_MORPHOLOGY	RTL1	PHGDH	MEG3	CFH	LMNA	KIT	CDKN1C	BCL10	FANCF	DLK1	HSPG2	KCNQ1OT1	IGF2	SPTBN1	STOX1	GLB1	ZMPSTE24	KCNQ1	CDKN2A	TP53	CORIN	CD46	HYMAI	TTC37	HMGA2	HELLPAR	FLT1	CHEK2	FGFR3	CFI	MKS1	MUSK	PLAGL1	MDM2	STK11	IGF1	PLAG1
HP_CHORIOCARCINOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHORIOCARCINOMA	KIT	STK11	MDM2	CHEK2	TP53	FGFR3	CDKN2A	BCL10
HP_SYNOVITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SYNOVITIS	MAP2K1	PTPN22	CD247	ANKRD55	IL2RA	LPIN2	STAT4	BRAF	NOD2	F8	PTPN11	IL2RB	POLR3A	PTPN2
HP_HYPEROSTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPEROSTOSIS	ALMS1	B3GALT6	GNAS	SLCO2A1	TNFRSF11A	KRAS	XPA	GJA1	FGFR1	LRP4	LRP5	SMAD4	DDB2	TNFRSF11B	COL1A1	ERCC3	SLC39A14	PTDSS1	GNAQ	PTEN	TGFB1	PRKAR1A	ANKH	SOST	HNRNPA2B1	AMER1	PIK3CA	LEMD3	GALNT3	ERCC5	TBXAS1	THOC2	MAP2K1	TCIRG1	CA2	ERCC4	ERCC2	MAN2B1	PHEX	VCP	WAS	WIPF1	TNFSF11	COX4I2	AKT1	SLC29A3	RPS6KA3	IDUA	XPC	FLNA	HNRNPA1	ABCC9	NOTCH3
HP_RECURRENT_PHARYNGITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_PHARYNGITIS	PTPN22	ALG12	P4HA2	HLA-DRB1	NFKB2	XIAP	SH2D1A	SLC29A3	HLA-B	TNFRSF1A
HP_EXOSTOSES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXOSTOSES	SHOX	EXT1	EXT2	ALX4	RAD21	COL2A1	COL11A2	CHRNG	IDH2	MSX2	PTPN11	PTEN	ACAN	ATP7A	TRPS1	PHF21A	IDH1	AKT1	IPO8
HP_UROGENITAL_SINUS_ANOMALY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UROGENITAL_SINUS_ANOMALY	CYP11A1	AR	SRY	SOX9	DMRT3	NR2F2	DHX37	CHRM3	VAMP7	ZFPM2	NR0B1	NR5A1	GATA4	MKKS	WT1	WWOX	MAP3K1	PPP1R12A	SRD5A2
HP_CONJUNCTIVAL_HAMARTOMA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONJUNCTIVAL_HAMARTOMA	PTEN	SDHB	SEC23B	SDHD	KRT1	PIK3CA	AKT1	USF3	SDHC	KLLN	KRT10
HP_ABNORMAL_SACROILIAC_JOINT_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SACROILIAC_JOINT_MORPHOLOGY	DMP1	PHEX	TWIST2	ENPP1	HLA-B	TNFRSF1A	FGFR3
HP_BREAST_APLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BREAST_APLASIA	IKBKG	PLXND1	ORC1	GMNN	TWIST2	KCTD1	CDT1	TBX3	ORC4	CDC6	LMNA	REV3L	CDC45	ORC6	DYRK1A	TP63	MTX2
HP_PERIPHERAL_ARTERIOVENOUS_FISTULA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PERIPHERAL_ARTERIOVENOUS_FISTULA	ENG	ACVRL1	RASA1	SMAD4	EPHB4	COL3A1	AGGF1	GDF2
HP_INSOMNIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INSOMNIA	SLC2A3	MLXIPL	GTF2IRD2	HCRT	YY1	SLC12A3	PRKN	PRNP	HLA-DRB1	ABCB11	HMBS	HTRA2	VPS37D	ABCB4	PARK7	ELN	HLA-DQB1	BCL7B	TMEM270	GTF2I	NCF1	RFC2	STUB1	PINK1	TUBB3	LIMK1	VPS13C	SYNJ1	EIF4H	ZNF365	SNCA	NAGS	NR1H4	PRR12	DNAJC6	SLC25A13	FKBP6	FARS2	ATP8B1	PODXL	STX1A	SATB1	HTT	UCHL1	BAZ1B	MEN1	CPOX	CRY1	DCTN1	METTL27	TBL2	CLIP2	GALNT2	BUD23	CLCNKB	GTF2IRD1	DNAJC30	LRRK2	PDE2A
HP_HYPERSOMNIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERSOMNIA	PRR12	SLC26A4	NKX2-5	TDP2	PAX8	FOXE1	PRNP	NKX2-1	DUOX2	TSHR	AIP	GPR101
HP_PROSTATE_NEOPLASM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PROSTATE_NEOPLASM	STAT6	RAD51	ZFHX3	BRCA2	RNF43	RAD51C	RAD50	CHEK2	PTEN	TP53	AR	BRCA1	NAB2	EPHB2	MDM2	AAGAB	PALB2	MXI1	RAD51D	NBN	CDH1	BMPR1A	KLF6	MAD1L1	APC	RNASEL	CDKN2A	MRE11	BRIP1	COL14A1	GREM1	BARD1
HP_HERNIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HERNIA	ELN	TGFB3	TGFBR1	COMT	COLEC10	ALDH18A1	EED	EOGT	SKIV2L	SRCAP	RAD51	GATA6	TWIST2	MAT2A	COL1A2	CDKN1C	GPC3	COX7B	ABCC9	AGA	CDC42	MYH11	GTF2I	FANCC	SCN2A	CEP120	EZH2	NCF1	HSPG2	KCNQ1OT1	ROR2	EIF4H	HDAC4	TOR1A	NELFA	MED12	ERCC3	AMER1	FANCF	HCCS	LMOD1	ERCC4	TTC26	GPC4	MPLKIP	FANCD2	LRP2	ODC1	FBLN5	LETM1	FIBP	NR2F2	DSE	SLC2A10	WDR4	FGFR1	TPRKB	CHRNG	SMARCA4	RPL10	RNF13	MTHFR	GTF2E2	CHD7	NEU1	TGFBR2	CRKL	PAFAH1B1	SHPK	FANCL	SLC26A2	LTBP1	COL5A2	SMAD3	DVL3	TG	ATP7A	GNAO1	PLAGL1	AMHR2	SMC3	SEMA3E	CHST3	PLAG1	MID1	SLC25A24	HYMAI	SMC1A	IRF6	GMNN	NAA10	SMARCB1	GLI3	EFNB1	AEBP1	RARB	CPLX1	FREM2	WDR35	FREM1	EFEMP2	ATP6V1A	MAD2L2	SLC10A7	NALCN	FANCA	PPP2R1A	WDR73	BCL7B	SKI	KMT2C	MYH3	COL5A1	CHUK	TTC7A	KIAA0586	ARID1A	KNSTRN	TNXB	DDX6	IYD	TGFB2	ABL1	TMEM107	DYNC2I1	WNT4	NIPBL	TASP1	CD96	FLNA	FLNB	TTC37	FUCA1	TBX1	SOX11	IFT81	KCNA1	MED25	TARS1	AUTS2	ARID1B	POGZ	SEMA5A	PLOD2	MTOR	NXN	POU1F1	METTL27	DIS3L2	BRF1	TRIP11	PPP1R12A	PIGN	COL11A1	RPS6KA3	FANCB	TMCO1	EHMT1	DVL1	FKBP14	FANCI	FTO	ESS2	IGF2	ZEB1	PBX1	DNMT3A	PLOD1	IDS	FGD1	NEDD4L	ADAT3	COL1A1	PIK3CD	KDM6A	LONP1	RTL1	RAD21	POLR2A	NLRP3	GALNS	TRRAP	SMARCA2	SMCHD1	TENT5A	MAN2B1	KCNH1	RFC2	DNMT3B	DACT1	FARSB	LBR	WT1	LDHD	FRAS1	PRKG1	BMP1	MEGF8	RIPPLY2	PRR12	ATAD1	NKX2-5	FKBP6	TNRC6B	BRD4	TSHR	IRX5	MAPRE2	HMGA2	MECP2	SMARCD1	GLIS3	PIK3R1	HELLS	DUOX2	SNIP1	C1S	DGCR2	TSHB	TGDS	MYLK	CTBP1	SIK1	COL2A1	WDR19	BUD23	ZNF469	RAD51C	FANCE	SATB2	DNAJC30	MBTPS2	ATRX	GRM7	BRAT1	GLRA1	TRAIP	KIF7	DLL3	PNKP	IDUA	DMXL2	FLI1	RPGRIP1L	GNE	MEG3	CASK	SCN1B	VPS37D	SMAD4	THRA	GUSB	WNT5A	SALL1	SMAD2	PTDSS1	TCF4	ADAMTS2	MASP1	CBS	OSGEP	TMTC3	TFE3	GON7	SLC29A3	TP63	NFIA	PIEZO2	TUBB	ARSB	KDM3B	B3GLCT	GPHN	AMH	RLIM	DLK1	ZFPM2	YWHAE	ATP6V0A2	PIGQ	PRDM5	ELOVL4	C1R	HEY2	BRCA2	CLCN4	XRCC2	NDUFB11	DYNC2H1	GRIP1	GP1BB	PYCR1	ATP1A2	AP1S2	RIN2	BRCA1	NAT8L	PORCN	BCOR	SERPINH1	FBN1	POLR3GL	GNPTAB	NOTCH3	RSPO2	PIGG	MLXIPL	GDF11	HDAC8	ABCD4	ARID2	NEUROD2	RIPK4	XRCC4	MCTP2	ZBTB24	SLC6A5	CTCF	SLC5A5	FBXW11	SPECC1L	DGCR6	LIMK1	ISL1	H19	LAGE3	VPS33A	COL11A2	CC2D2A	AR	ANTXR1	PUF60	PROP1	TBX3	INPP5E	CDKL5	OCRL	NSD2	NECTIN1	MESP2	GLRB	ARVCF	ELMO2	SUZ12	ACTG2	CLDN19	HOXD13	CDH11	NOTCH2	UFD1	KCNJ11	GORAB	KDM5B	MAMLD1	CCBE1	EN1	NSD1	NUP107	ZNF699	MFAP5	BCL11B	ABCC8	PAX8	GDF1	FZD2	PACS1	SOX4	LHX4	VANGL2	HIRA	LHX3	PALB2	SETD2	SMARCC2	SHOC2	BSCL2	AGPAT2	HYLS1	WASHC5	ARFGEF2	FANCG	RAC1	PIGS	LFNG	FGFR2	RPS26	GPC6	ARX	PIK3CA	SETBP1	SHANK3	GTF2H5	HGSNAT	SMARCE1	GNB2	RAB23	DUOXA2	COL3A1	SLC37A4	GLB1	MAPK1	STAG2	MKS1	SEC24C	TBL2	CDCA7	NOTCH1	ERCC2	PTCH1	ZFP57	ARF1	NSDHL	ZIC3	LTBP4	NPHP3	RIC1	TRAF7	MAF	FANCM	APC2	TRIM8	ADNP	DHCR7	GAD1	LOX	DYRK1A	NFIX	TMEM270	PPP2CA	BRIP1	PCNA	FOXF1	NEK9	P3H1	DPF2	SOX6	DYNC2I2	B3GAT3	OFD1	PHGDH	SLX4	TP53RK	NUP133	CREBBP	ACTA2	STX1A	DNAJC21	PIGY	ERMARD	COLEC11	BAZ1B	RNF2	RNF113A	MEIS2	CHST14	ADAMTSL2	TMEM70	CUL4B	HIC1	PRKG2	GATA4	SIN3A	JMJD1C	BHLHA9	PLD1	BCR	GTF2IRD2	CCDC22	MED13L	UBA1	SH2B1	KCNJ8	UBE2T	HESX1	DPH1	STRA6	ATP6V1E1	KMT2D	PPP2R3C	RPS28	TPO	HES7	IKBKG	GJA1	ALG9	FOXE3	MMP2	SLC35C1	KCNQ1	BMPER	SEC31A	IPO8	NDUFA8	CTNND2	RFWD3	MMP14	IFT80	NDUFAF5	SH3PXD2B	MAP1B	DGCR8	RREB1	PIGP	CLIP2	MN1	SLC25A22	GTF2IRD1	TMEM67	MSX1	CWC27
HP_ACANTHOLYSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ACANTHOLYSIS	IKZF1	DSP	ATP2C1	KRT2	DSG1	JUP	HLA-B	ATP2A2
HP_ORCHITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORCHITIS	C4A	HLA-B	IL12A-AS1	TLR4	IL12A	CCR1	ERAP1	IFNGR1	IL10	MEFV	FAS	STAT4	UBAC2	IL23R	KLRC4	TNFRSF1A
HP_TOENAIL_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TOENAIL_DYSPLASIA	BHLHA9	EVC	TBC1D24	EVC2	FLT4	VEGFC	LMX1B	TP63	SOX18	GJC2	EOGT	TAF1	ATP6V1B2	SHANK3	BMP2
HP_FINGERNAIL_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FINGERNAIL_DYSPLASIA	KRT17	LMX1B	TP63	FZD2	ROR2	SOST	LRP4	DVL3	DVL1	KRT16	IL11RA	KRT6A	WNT5A	TFAP2A	NXN	KRT6B
HP_NEOPLASM_OF_THE_MIDDLE_EAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_MIDDLE_EAR	APC2	NKX2-1	EYA1	SETD2	NSD1	SYK	DDR2	SIX1
HP_ABNORMALITY_OF_THE_PERIUNGUAL_REGION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PERIUNGUAL_REGION	KRT17	SLC39A4	TSC2	STAT3	BLM	KIF1A	TSC1	STING1	SCN9A	ADAM17	LAMA3	RETREG1	LAMB3	KRT16	NFKB2	KRT6A	WNK1	LAMC2	KRT6B
HP_SEPSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEPSIS	EFL1	PIK3R1	IL7R	WAS	NCF1	CYBA	RAG2	ABCA12	G6PC3	DCLRE1C	MNX1	MYH11	IKZF1	CD79A	IL2RG	AK2	CTCF	MRTFA	LAMA3	KRT5	BLNK	TCF3	VPS33A	CTLA4	SMARCD2	ATP7A	ELANE	ALG1	SMO	LMOD1	ABCA3	IGKC	PGM3	COG4	FERMT3	RAG1	ALG12	SRP54	APC	CHD7	CYBB	ALOXE3	CD40LG	NFKB2	SDR9C7	NCF2	HMOX1	RET	RAC2	IGHG2	MYLK	WIPF1	KRT14	GALT	DEF6	EDNRB	TREX1	IDH1	SERAC1	FOXP3	EDN3	CD27	TFRC	NIPAL4	COX8A	MMUT	ERBB2	LRRC8A	IGHM	SAMD9	RNF13	ERBB3	LAMC2	FCGR3B	NRTN	ALOX12B	CYP4F22	SULT2B1	MYD88	LAMB3	PKP1	GALM	ECE1	LIPN	HLA-B	SFTPB	TGM1	SREBF1	CXCR4	BTK	GJB2	CTNNB1	YARS1	HYOU1	GDNF	SBDS	ADA	ACTG2	DNAJC21	LIG4	SEMA3C	ABCD1	IGLL1	CYBC1	GJB6	RMRP	NCF4	LRBA	CD79B	SFTPC	SEMA3D
HP_LONG_FINGERS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_FINGERS	PIGG	YRDC	TGFB3	TGFBR1	COMT	SUPT16H	UNC80	EXOC6B	BMP15	RPL10	EED	PLOD1	CDKL5	STUB1	MAT2A	KANSL1	PIEZO2	AIP	CDC42	AMMECR1	INPPL1	FIG4	EBP	ZNHIT3	FBXO11	RAB11B	KDM1A	FBN2	PHF21A	PYCR2	NELFA	RUNX2	PSMB8	LAS1L	TRIO	AMER1	EXOSC5	VAC14	ZMIZ1	TBX1	PUF60	ALG12	ODC1	LETM1	YY1	DSE	SPOP	SLC2A10	DLG4	TWIST1	CHRNG	EBF3	SLC39A13	NSD2	ARVCF	TGFBR2	ARX	COL1A2	CBS	ACTG2	UFD1	DLX5	SH2B1	CRKL	HUWE1	PTRH2	CTSC	SLC12A6	SMAD3	DPAGT1	KDSR	ADAMTSL1	MFAP5	TBX4	CHD4	NR2F1	KDM5C	SMC1A	KATNB1	PTCH1	NALCN	B4GALT7	COL3A1	HIRA	BNC1	POR	CPLX1	ACSL4	EFEMP2	PHF8	ZEB2	CYP26B1	FBN1	SKI	KMT2C	GJB3	NUP107	CLCN3	MYOD1	COPB1	TRAPPC9	SMS	TCF4	DDX6	TGFB2	TCF20	MYMK	NPR3	CNTN1	ABL1	POLR3A	MED12	NSDHL	XYLT2	HERC1	PSMC3IP	TMEM94	PTCH2	TP53RK	ZDHHC9	BRF1	KIF1A	ATRX	FBLN5	PIGV	TELO2	GNB2	NARS1	SMARCE1	MAPK1	PIGN	COL12A1	UPF3B	SEC24C	FSHR	NPR2	LMNB2	NR5A1	HIVEP2	LARS1	MYH11	MRPS22	RPS6KA3	EHMT1	MAGEL2	DYRK1A	MAP1B	MAF	SPEN	ALG3	LOX	B3GALT6	KMT2E	PLAA	SPIDR	FGFR2	CCNK	SPEG	ELN	ASXL1	VPS13B	RYR1	CNOT1	USP9X	POLR3H	PHF6	GATAD2B	PUM1	PQBP1	KMT2A	PAX1	SOX6	SMARCAD1	SLC25A46	PRKG1	SIM1	BMP1	OFD1	CPT2	PRR12	CNOT3	BIN1	KIFBP	PIGB	TUBB	ACTA2	COL2A1	IRX5	SATB2	SCARF2	RUSC2	SNIP1	RETREG1	FARSA	SON	CHST14	FGFR3	CTBP1	EIF2S3	FLNA	BCORL1	ZNF469	PMM2	MTM1	COL11A1	GATA4	SIN3A	ABCC9	GPR101	KIF7	TNNT3	JMJD1C	PHIP	GJA1	HDAC8	UBE3B	BCR	PAPPA2	WNK1	PCGF2	HNRNPH2	SUFU	LAGE3	ECE1	SMAD4	SCN9A	TTN	CRLF1	RNF13	GJB4	IARS2	NKAP	SMAD2	MED12L	OSGEP	SMARCA2	ASXL3	SETD1B	FOXE3	TFE3	TBR1	GATA2	NFIX	IPO8	PEPD	ZMYM2	MYLK	MAP3K7	DOCK3	DPYSL5	MAPRE2	PRDM5	ALG14	C1R	HEY2	SOX5	RREB1	KCNE5	OTUD6B	GP1BB	WASF1	AEBP1	SVBP	COG7
HP_APLASIA_HYPOPLASIA_OF_THE_COLON	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_COLON	MYH11	ACTG2	MYLK	ZMPSTE24	SOX10	LMNA	LMOD1	GATA6	GUCY2C
HP_HALITOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HALITOSIS	SCNN1G	MAT1A	SELENBP1	SCNN1B	SCNN1A	CFTR
HP_BLUE_NEVUS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BLUE_NEVUS	TYRP1	ARL6IP6	PRKAR1A	PUS3	TASP1
HP_RENOVASCULAR_HYPERTENSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RENOVASCULAR_HYPERTENSION	MLXIPL	GTF2IRD2	FKBP6	XYLT2	STX1A	STAT1	VPS37D	BAZ1B	COL3A1	ELN	BCL7B	TMEM270	GTF2I	NCF1	METTL27	TBL2	CLIP2	YY1AP1	RFC2	BUD23	GTF2IRD1	ABCC6	LIMK1	XYLT1	EIF4H	DNAJC30	FIG4	NF1	VAC14
HP_LONG_THORAX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_THORAX	INTU	TRPV4	PRKACB	PRKACA	PCGF2	KAT6A	BCOR	NAA10
HP_INTESTINAL_FISTULA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_INTESTINAL_FISTULA	TGFB1	KMT2D	B3GLCT	IL10RB	LONP1	RECQL4	JAK3	DACT1	SALL4	UBR1	POLR1D	FREM1	PIGN	MNX1	SALL1	CCNQ	TCTN3	POLR1B	SPINT2	MKKS	KDM6A	CDK8	PKP1	DDB1	POLR1C	TCOF1	KIF7	SYK
HP_GLOMERULOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GLOMERULOPATHY	HLA-B	IL12A-AS1	LMX1B	FN1	IL12A	WT1	CCR1	ERAP1	HNF1B	IFNGR1	MEFV	MT-TK	MTRR	LPIN2	ELP1	ACSL4	IL23R	AMMECR1	APOE	C4A	PRTN3	FOXC2	TLR4	CTLA4	MT-TL1	KCNE5	GLA	WAS	DNASE1L3	LMNB2	WIPF1	OCRL	HLA-DPA1	SCARB2	IL10	FAS	LMNA	STAT4	UBAC2	MT-TE	MMACHC	PTPN22	HLA-DPB1	KLRC4
HP_CHEILITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHEILITIS	KRT17	FERMT1	CUBN	BLM	IL17RA	DSC3	PERP	GJB2	SLC39A4	CLEC7A	OCRL	IL17F	TRAF3IP2	GJB6	AMN	CAST	SREBF1	MBTPS2	KRT16	PKP1	KRT6A	IL17RC	SLC46A1	KRT6B
HP_LYMPHOCYTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LYMPHOCYTOSIS	FASLG	ZAP70	LMNB2	FAS	RASGRP1	CASP10	NRAS	REL	BTNL2	CARD11	IL7R	HLA-DRB1	KRAS	ARPC1B	NCKAP1L	RNASEH2B	PRKCD	EIF2AK3	XIAP	SH2D1A
HP_GALACTORRHEA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GALACTORRHEA	CDH23	MEN1	CDKN2C	CDKN2B	AIP	PRLR	IRF4	CDKN1B	CDKN1A	GPR101
HP_ROUND_EAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ROUND_EAR	TNNI2	MYH3	TNNT3	CEP57	TPM2	NALCN	PSMC3	ERF
HP_ABNORMALITY_OF_VITAMIN_K_METABOLISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_VITAMIN_K_METABOLISM	DNAJC21	EFL1	MST1	HLA-DQA1	SEMA4D	AMACR	TJP2	SRP54	TCF4	DZIP1L	SBDS	GPR35	PKHD1	HLA-DQB1
HP_VITREOUS_FLOATERS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VITREOUS_FLOATERS	ARL3	TTR	ZNF408	HLA-A	LRP5	CTNNB1	TSPAN12	FZD4	NDP
HP_NEOPLASM_OF_THE_SMALL_INTESTINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_SMALL_INTESTINE	WRN	SDHA	PDGFRA	SDHD	STK11	NTHL1	LMNA	BMPR1A	AAGAB	SDHB	APC	MLH1	KIT	MSH2	SMAD4	SDHC	COL14A1	GREM1
HP_NEOPLASM_OF_THE_LARGE_INTESTINE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_LARGE_INTESTINE	NRAS	APC	SEC23B	PIK3CA	STK11	RPL15	TLR2	GATA1	RNF43	POLE	POLD1	KEAP1	BAX	MLH3	PMS2	TGFBR2	RABL3	BMPR1A	BRAF	SEMA4D	MSH6	HABP2	MLH1	TCF4	RPL18	RPS17	RPS7	MSH2	COL14A1	PTPRJ	AKT1	KRAS	PMS1	DICER1	RPS28	TP53	BUB1	CDKN2A	MINPP1	PTEN	MCC	RPL35	CHEK2	RPS19	BRCA1	PLA2G2A	RPL11	DCC	RPL5	BLM	FLCN	KLLN	AAGAB	RPL26	EP300	RPS27	CCND1	PDGFRL	AURKA	PALB2	BUB1B	SH3KBP1	SDHD	RPS24	CTNNB1	DOCK8	PTPN12	RPS20	SMAD4	SDHC	AXIN2	GPR35	SMAD7	ADA2	FOXE1	PDGFRA	BRCA2	NTHL1	MST1	RPL27	RAD54B	SEMA4A	KIT	RPL35A	FAN1	RPS10	RPS26	RPL31	SDHA	TRIP13	PALLD	EPCAM	DLC1	MUTYH	SDHB	RPS15A	ENG	RPS29	PRKAR1A	SRC	TSR2	MDM2	BUB3	FGFR3	CEP57	MSH3	USF3	GREM1
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	NF1	SEC23B	RET	WDPCP	ALX1	CDKN2B	TMEM216	AKT1	GLI3	MLH3	SDHAF2	VPS16	SLC25A11	TGFBR2	FAT4	KRIT1	TSC2	OFD1	FAM149B1	CDKN1A	ZSWIM6	MSH2	BAP1	ADAMTS3	PDGFB	KRAS	PMS1	KIAA0753	GCDH	CREBBP	SMARCE1	NF2	SIX6	PTEN	KIF7	TP53	CDKN1B	DLST	MLH1	PIK3CA	WRN	SMO	SDHC	TRAF7	TSC1	NOTCH3	MN1	PDCD10	KLLN	VHL	CHEK2	ALX3	CCND1	BMPR1A	SDHD	TCTN3	NRAS	PDGFRB	PDE6D	SOX2	MSH6	FGFR1	RPS20	MEN1	EP300	CCBE1	NTHL1	LMNA	OCRL	MAX	SEMA4A	SMARCB1	FH	FAN1	MDH2	SDHB	CPLANE1	TOPORS	SUFU	EPCAM	ARMC5	KIF1B	PMS2	SDHA	IFNG	CCM2	GNAS	TMEM127	TERT	CDKN2C	USF3
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	GPC3	APC2	SUFU	HSPG2	ASXL1	DICER1	SPEN	CDKN2B	RERE	TP53	KEAP1	PHOX2B	BRAF	MLH3	PMS2	APC	TGFBR2	ERBB2	TSC2	YY1	GDNF	IDH1	MLH1	CDKN1A	ASCL1	MSH2	PTCH2	BRCA2	KRAS	PMS1	PRKCZ	TUBB	MAPRE2	PTPN11	NF2	NF1	SDHB	CDKN1B	RUNX1	MSH3	CHEK2	UBE4B	SMO	TSC1	CASZ1	MSH6	BRD4	NSD1	SMARCB1	KIF1B	ZFTA	KCNAB2	LRP5	CDKN2A	SETD2	RPS20	NBN	MEN1	PTCH1	LUZP1	BMPR1A	RET	SEMA4A	ELP1	FAN1	MMP23B	GPC4	PALB2	SETBP1	PDPN	EPCAM	PRDM16	GABRD	SKI	RAF1	BDNF	IFNG	IDH2	POT1	MDM2	CDKN2C	PIK3CA	CTNNB1	EDN3	NUTM1	MYO1H	RELA
HP_RECURRENT_CUTANEOUS_ABSCESS_FORMATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_CUTANEOUS_ABSCESS_FORMATION	GJB6	UBE2A	PSEN1	CTSC	BTK	PSENEN	GJB2	CARMIL2	LCP2
HP_APLASIA_HYPOPLASIA_OF_THE_EYEBROW	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_HYPOPLASIA_OF_THE_EYEBROW	WNT10A	KAT5	EDARADD	IL7R	KDM4B	PURA	RIPK4	TWIST2	BRAF	RAG2	ABCA12	ITGB6	CDC42	FIG4	TBCD	EBP	LARP7	MBTPS2	DCAF17	MEGF8	YY1	NECTIN1	SOS1	HDAC4	NFIB	KANK2	GNPTAB	KRT71	KRT74	NUP188	ANTXR1	VAC14	LPAR6	RAG1	KMT2D	MAN1B1	GTPBP2	ODC1	ZMPSTE24	SPOP	ALOXE3	OTX2	DLX4	GJA1	LZTR1	UROS	LMNA	EPS8L3	KAT6A	TRPS1	DSP	CDH3	FRAS1	TP63	PRRX1	WDR26	TBX3	NIPAL4	SOX18	EDA	NAA10	LIPH	CRIPT	AEBP1	GJB6	WDR35	RMRP	EDNRA	GJB2	ALOX12B	ATP1A3	SMS	KDM6A	NF1	CACNA1A	KREMEN1	SHOC2	POLR3A	CDC45	ATAD3A	HERC1	MED25	APCDD1	BRF1	NSUN2	KRT85	RAF1	MEIS2	ADA	RNU4ATAC	RPL21	TMCO1	ANAPC1	HBA1	STAG2	DSC3	GAD1	ALX1	CLDN1	CCNK	LSS	AHSG	DCLRE1C	STAG1	DPH1	IL2RG	MAP2K1	MAP2K2	DOLK	JUP	NECTIN4	RECQL4	HNRNPK	KDM1A	WNT10B	LIG4	HECW2	UBE3B	CHST3	IRX5	DNAJC21	KRT17	HBA2	CHD7	COL3A1	SDR9C7	SON	KRAS	LRP1	ITGA3	PCNT	SPINK5	FLI1	SIAH1	BCL11B	COL11A1	MTX2	KRT25	SMARCA2	TTC7A	ATP1A2	AASS	PPP1CB	SNRPE	PPP2R3C	HEPHL1	BANF1	RPS28	CYP4F22	MED12L	HR	EDAR	DSG4	SULT2B1	ALX4	ASXL3	SLC1A3	LIPN	B4GALT7	TGM1	PEX6	MESD	SF3B4	SOS2	PEX1	KIFBP	ST14	EDA2R	COG6	RIN2	HRURF	PQBP1	AXIN2	CWC27	PIGK
HP_SEPTO_OPTIC_DYSPLASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SEPTO_OPTIC_DYSPLASIA	OTX2	ARNT2	FGFR1	WDR11	FOXA2	HESX1	LHX4	GLI2	CDON	STAG2	SOX2	WNT3	POU1F1	GPR161	ROBO1	SOX3	RSPO2	PROKR2	PROP1
HP_NEOPLASM_OF_THE_MALE_EXTERNAL_GENITALIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_THE_MALE_EXTERNAL_GENITALIA	PRKAR1A	PRKACA	CDC73	DICER1	AR	PDE11A	STK11	EWSR1	DMRT3	DHX37	VAMP7	ZFPM2	NR0B1	KANSL1	TXNRD2	CHEK2	IGF2	FLI1	KEAP1	NNT	GATA4	WT1	SOX9	MC2R	MDM2	CDKN1B	WWOX	MAP3K1	PDE8B	CYP11B1	MRAP	STAR	SRY	STS	PTEN	NR5A1	AKT1	CDKN2A	TP53
HP_ABNORMAL_EMOTION_AFFECT_BEHAVIOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_EMOTION_AFFECT_BEHAVIOR	PRODH	TP53	NPHS1	IL12A-AS1	UNC80	MYT1L	TARDBP	IL12A	MECP2	ZEB2	ECM1	CACNA1I	RTTN	NDN	SMG8	MGAT2	ATP5F1A	SNRPN	ENTPD1	HSPG2	LARP7	CHCHD10	TGIF1	PDE8B	RAB11B	PTCHD1	CLCN2	TRIP12	CDH2	PRNP	NDUFA10	SUCLA2	MAB21L1	ODC1	CHRNA2	ERAP1	TUBG1	SMARCE1	PAX2	HTT	CDON	CILK1	ERBB4	PYGL	FGFR1	RNF13	PACS1	NSDHL	C19orf12	TRAF7	KCNT1	PRF1	TREX1	STAT4	CNTNAP2	IFIH1	RNU7-1	SEMA3E	CLP1	EHMT1	PSAP	TIMM50	GLRX5	SQSTM1	TSC1	PUS3	SMARCB1	CASR	CDH23	GLS	SLC46A1	SHANK3	STIL	KMT2C	GALC	CLCN3	PET100	ATP1A3	SLC2A1	IBA57	SIX3	SPTBN1	ASPA	DNMT1	NOTCH3	TBK1	TMEM106B	SLC25A19	PLA2G6	TCF20	RAI1	NUP37	ITPA	SLC6A3	NIPBL	CHAMP1	PTCH1	PRKACA	TBX1	DEAF1	MAGEL2	KCNA1	SOX5	EPCAM	ZIC2	DCTN1	ARMC5	NAXD	AMT	GABRD	ARID1B	RERE	ZSWIM6	PLCE1	SYT1	DISP1	HDC	TERT	NPAP1	PDGFB	DHCR7	CREBBP	BCOR	PGK1	MTPAP	TMCO1	HBB	LRRK2	ESS2	DCDC2	OCA2	MATR3	PIK3CA	GRIN1	GAPVD1	SPEN	SYN1	DYNC1I2	PRKN	ADAT3	TMEM231	EEF1A2	NDUFV2	AUH	ADAR	NDUFA4	VPS13C	PTS	ARSA	CHMP2B	SLC52A2	MSH2	PPP3CA	SLC25A13	NDUFAF2	GAMT	LSM11	FGF8	UBE3A	PON3	GBA	SET	RUSC2	SMARCD1	SPATA5	PDCD1	HIBCH	SLC6A17	CABP4	TSC2	DGCR2	GAS1	ZFYVE26	GCH1	NDUFA12	DNM1	ANK3	SATB2	FGF14	TCN2	PHIP	PNKP	DLL1	HDAC8	VPS13A	SETD1B	CNP	GNAS	CLTCL1	EFHC1	SCN1B	SLC16A2	GRIN2A	KIF11	EP300	PSEN1	C4A	C9orf72	FDFT1	AVPR2	STUB1	TCF4	CUX2	RAB11A	TFE3	SLC1A3	ANXA11	SNORD115-1	CCNF	NTRK1	IQSEC2	KDM3B	ANG	ATP1A1	ARHGAP24	ECHS1	KNL1	CLCN4	COG4	STX16	VAPB	RNASEH2A	RPS6KA3	SLC19A3	COX15	GJB2	UBQLN2	SVBP	SPAST	PYCR2	OCRL	YIF1B	TBC1D8B	KDM4B	CACNA1A	TTI2	CEP85L	TREM2	INPP5E	QDPR	FIG4	AP1S2	HERC2	KIF1A	AFF2	STAG2	PINK1	CHD2	SDHA	TBP	LAS1L	NIPA1	NUP85	ZMIZ1	GRN	PRKCZ	DCHS1	DDX3X	WARS2	CDKL5	SLC25A20	NUP107	MLH1	CYP27A1	MYO1E	NEXMIF	GLI2	SMPD1	COL4A3	ALPL	CUL4B	VDR	ELP2	FTL	GABRB3	DNAJC13	DPAGT1	HMGCL	UBAC2	TACO1	GM2A	EIF2B2	LINGO1	PFN1	ARG1	SCN11A	HLA-DQB1	SDHAF1	USP9X	UBE4A	SLC1A4	KCNAB2	UBA5	PIGQ	ALAD	CIC	SYNGAP1	NBEA	SEMA4A	DDC	SPG21	AIP	ARX	TK2	GNA11	SUFU	EPHA4	PDPN	DYRK1A	SHH	TDGF1	CCR1	LEPR	PMS2	NDUFS1	MAPK1	ALDH7A1	TTC19	GRIA4	PAH	NODAL	CACNB4	CFAP410	APC2	POGZ	KMT2E	VCP	TAF15	PCBD1	USP7	SCN1A	NAGS	VPS16	NUP133	GABRG2	BPTF	HSD17B10	SDHB	GRM7	KMT2A	CTSF	NUP93	PHGDH	NIPA2	PIGY	BAP1	FMR1	PCDH19	KPTN	HNRNPA1	RNF168	AQP2	PON2	ABCC8	UBE2A	PANK2	ENPP1	SIN3A	HTRA1	CHRNA4	NPHS2	COQ8B	MAOA	FUS	PDE11A	FRRS1L	SLC13A5	MED13L	ATP1A2	ATP7B	HTRA2	KCNQ5	TAOK1	HEPHL1	WDR45	MED12L	SPG11	ASXL3	MBD5	B4GALNT1	HLCS	ADSL	ACTN4	FUZ	FMO3	FOXG1	BRSK2	WDR62	UNC13A	GRIA3	DGCR8	ARHGDIA	EIF2B3	TMEM237	FAS	ATXN10	TRIO	SPART	GABBR2	SLITRK1	RPL10	SLC6A19	NDUFA13	FRMPD4	PARK7	CDH15	MAPT	SCN2A	CP	ABCA2	SUCLG1	MED12	ACAT1	AP2M1	HLA-B	NHLRC1	GRIK2	WT1	NDUFS2	MAN1B1	KANSL1	FOXRED1	FOXH1	SMARCA4	SURF1	ATP13A2	HPRT1	FTSJ1	USP8	CACNG2	CHD7	ST3GAL3	EIF2S3	ATG7	MADD	RNASEH2C	NACC1	GNAO1	KDM5C	WAC	NALCN	NAGLU	CAMK2B	IQSEC1	ABCA12	RPS20	ZMYND11	NDUFS4	TRPM3	NDP	ASH1L	ARID1A	MKRN3	TASP1	ATP10A	EBP	DNAJC6	SOX11	UQCC2	TH	NDE1	MED25	PODXL	PRDM16	TSPOAP1	OTC	SARS1	VPS53	PDE2A	CAMTA1	NUP160	GCSH	NDUFS8	SLC6A4	EIF2B1	EIF2B4	SAMHD1	PRKAR1B	SNCA	PIGF	ASXL1	CD2AP	PRICKLE2	MLH3	AP1G1	TLR4	PON1	SLC6A1	FBP1	SOD1	TGFBR2	CAMK2A	EMP2	ATXN2	NDUFA9	MAGI2	TKT	EIF2B5	STEEP1	KRAS	RORB	SLC39A4	PPT1	COQ2	SMARCC2	NTNG2	JRK	RBBP8	SIK1	DYNC1H1	NONO	NEK1	GABRA1	NDST1	NFASC	CLTRN	KDM5B	DMXL2	PRKAR1A	SLC2A3	PPARGC1A	DNMT3A	FLII	HNRNPH2	IFNGR1	SMARCA2	PIGL	CASK	SPOP	GIGYF2	ATRX	GRIA2	ELP1	AIFM1	BMPR1A	CLTC	EIF4G1	NDUFS7	HEXA	LINS1	PDHA1	BSND	FAN1	CSNK2B	TMEM222	PSMD12	ACOX1	RLIM	NDUFA2	PUS7	SCN8A	IL23R	SH2B1	SDHD	BCS1L	AGO2	SNORD116-1	WASF1	PRRT2	SRPX2	NAT8L	SARDH	GATAD2B	AVP	KAT5	PRPH	NDUFAF4	TMEM67	ASL	ARID2	NEUROD2	KCNQ3	ALG14	SEPSECS	ABCC6	FBXW11	TYROBP	DGCR6	MT-ATP6	OPTN	NFIB	NDUFAF5	PUF60	UROC1	GLE1	NF2	UBE4B	HDAC4	DCX	SMO	NHLRC2	NDUFV1	FOXP1	UBTF	NSD1	AKT1	C12orf4	CTNNB1	WDR26	ATXN1	KIF5C	RNASEH2B	SOX4	MEFV	METTL5	SETD2	EPM2A	SLC25A1	SMC1A	ST3GAL5	SLC6A8	CUX1	KIRREL3	TUBB3	PTPRO	TBC1D23	MMP23B	KIF15	EPB41L1	GNB2	DAO	NAA10	CRB2	TMEM240	ANLN	ASS1	ALDH4A1	VAMP2	PWAR1	GLDC	SASS6	SPR	TRIM8	ADNP	POLG	NDUFAF6	FAT4	CYP27B1	DPYD	NDUFS3	EXOC8	IL10	PPP2R5D	HIVEP2	CYP2R1	DPF2	ASAH1	CLN5	HECW2	MIR17HG	JPH3	CRH	GLT8D1	PMS1	ZBTB20	SIM1	GYS2	GRIN2B	SRCAP	LIPT1	IMPA1	OPHN1	CLCNKB	MTFMT	CASZ1	DEPDC5	SLC9A6	CEP152	PLPBP	DARS1	PIGH	HLA-DRB1	MSH6	BCAP31	SLC1A2	NKAP	LUZP1	APOL1	SETD1A	PWRN1	VPS35	NEFH	DOCK8	SYNJ1	NUP205	KLRC4	CHRNB2	HFE	SHMT2	CARS1	SKI	THOC2	ALDH5A1	DPYSL5	UCHL1	PAK3	TRPC6	ALG9	MAPK10	ANKFY1	PIGP	INF2	CLN8	SLC25A22	NFIX	CPS1	CLCNKA	HTR2A	MANBA
HP_ABNORMAL_FEAR_ANXIETY_RELATED_BEHAVIOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_FEAR_ANXIETY_RELATED_BEHAVIOR	TP53	NTNG2	COMT	DRD2	YY1	ZMIZ1	TRMT1	KANSL1	SHH	PARK7	GTF2I	NCF1	HSPG2	SLC25A11	LARP7	TGIF1	VCP	DOCK3	GABRA1	CDH2	PHF21A	MED27	EIF4H	PRNP	MSTO1	CHRNA2	GRIK2	SCN9A	TWNK	MT-TH	HTT	DNMT3A	CDON	FOXH1	DLST	MEN1	FGF8	CHD7	FTSJ1	USP8	FGFR1	MT-CO1	ACTL6B	KCNT1	PDE10A	MT-ND1	GALT	EMC10	POLG	TREX1	MYO7A	DPYSL5	RIMS2	PAH	DUSP6	TDGF1	SMC3	ADGRV1	PTPN23	GNRHR	TRIP12	WAC	TSC1	JRK	WFS1	CASR	CDH23	RPS20	MAPK8IP3	KCNMA1	NTNG1	STIL	BCL7B	MT-TF	SLC35C1	GABRG2	SCN1A	CLCN3	NDP	SCN2A	PPM1D	SIX3	SPTBN1	NOTCH3	TBK1	FBXW11	WDFY3	TCF20	PDGFRB	BPTF	MAPT	GABRB3	PTCH1	DNAJC6	SLC25A4	NSMF	SOX5	EPCAM	ZIC2	DCTN1	PODXL	MT-CO2	SMC1A	POLG2	KIF1B	HARS1	CPOX	GABRD	BCORL1	DISP1	RLIM	XK	MT-TL1	USH2A	METTL27	CREBBP	SLC45A1	TMCO1	CCDC32	GRN	DYRK1A	FIG4	MYT1L	LRRK2	VHL	MATR3	KCTD17	SLC6A4	PRKAR1B	PRKN	TACR3	CHD8	RAD21	EHMT1	ELN	MLH3	CLN3	TBX1	SDHAF2	FMR1	ASH1L	PON1	SLC12A2	SOD1	TGFBR2	RFC2	ATXN2	VPS13C	UBR7	KMT2E	MSH2	STEEP1	PRR12	KRAS	FKBP6	BRD4	PON3	PDGFB	GRIA4	HPDL	COQ2	SDHB	RET	FA2H	CABP4	FOXP1	TSC2	NR3C1	RAI1	GAS1	HCN1	CDKL5	BUD23	NEK1	SDHD	HMBS	DNAJC30	NFASC	TCF7L2	ADCY5	CLTRN	PPP2R2B	PHIP	PUS7	TLK2	SDHC	DLL1	SLC2A3	PPARGC1A	VPS13A	BCL11B	FLII	CHCHD10	NODAL	HNRNPH2	KISS1R	SYNCRIP	GNAS	VPS37D	GRIN2A	DEAF1	PPP1CB	EP300	C9orf72	AGO2	IGF1R	STUB1	BMPR1A	SETD1B	RNF2	MT-TS2	ANXA11	FAN1	ATP1A3	SNCA	CCNF	KISS1	MECP2	TAC3	SETD5	PSMD12	ANG	CNOT3	FLT4	PRKAR1A	TAF1	CLCN4	TMEM127	PURA	STX16	GABBR2	KAT8	GLA	SETD1A	VAPB	MT-ND4	GP1BB	TOR1A	SRPX2	ERBB4	PQBP1	UBQLN2	NFIX	SLC6A19	PPOX	NF1	MLXIPL	MT-ND6	PRPH	HDAC8	SLC2A1	FGF17	SNRPN	KDM4B	AIP	RRM2B	ALG14	TREM2	MED13	CHMP2B	STAG2	PCDH19	PINK1	LIMK1	SPRY4	OPTN	NKX2-1	NFIB	MT-TW	GM2A	GCH1	SLC7A6OS	GLE1	DLAT	MLH1	ARVCF	TNRC6B	WDR11	NEXMIF	GLI2	UFD1	MAMLD1	RNF125	DDB1	NSD1	TANC2	ARID2	PFN1	NONO	HLA-DQB1	HLA-DQA1	DDX6	HIRA	BCAS3	SETD2	MADD	ALAD	CACNA1H	PALS1	TET3	OCRL	SEMA4A	ACTL6A	KPTN	MDH2	MT-CO3	COL7A1	GNA11	EPHA4	SGCE	PMS2	DAO	PROKR2	TMEM106B	SEC24C	TBL2	PIK3CA	MAPK1	HIVEP2	ALDH4A1	PRRT2	TTC19	AP1G1	MAN2B1	CIZ1	HS2ST1	ANKRD17	CFAP410	ARSG	APC2	SRCAP	ADNP	CACNA1A	THOC2	SATB1	NIPBL	TAF15	TMEM270	WHRN	ACSL4	KMT2A	CLN5	NAGS	MIR17HG	JPH3	CRH	GLT8D1	PMS1	ZBTB20	STX1A	SATB2	BAZ1B	MMP1	UQCRC1	HNRNPA1	DEPDC5	HS6ST1	MT-ND5	PON2	GNRH1	LMBRD2	USH1C	CEP78	CHRNA4	GPR101	JMJD1C	SCN1B	PROK2	GTF2IRD2	AR	FUS	PSEN1	SVBP	CIB2	YWHAG	MSH6	HTRA2	DPH1	PDE11A	SPART	MED12L	MAX	NEFH	FH	SYNJ1	WASF1	USH1G	FUZ	CHRNB2	FMO3	ESPN	STX1B	ALDH5A1	CLRN1	SDHA	UCHL1	HUWE1	UNC13A	PAK3	PCDH15	SQSTM1	RREB1	IQSEC2	EPAS1	CLIP2	TRAPPC4	GTF2IRD1	TARDBP	SPECC1L	MT-TQ	PDZD7	JARID2	HTR2A
HP_APLASIA_OF_THE_MUSCULATURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_APLASIA_OF_THE_MUSCULATURE	PLXND1	REV3L	LMX1B	TRPV4	TBX5	MYMK	CHRNG	TBX3	CHRND	CHRNA1
HP_DUODENAL_STENOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DUODENAL_STENOSIS	ERCC4	FANCM	SLX4	FANCD2	TTC7A	RFWD3	RAD51	PALB2	UBE2T	MAD2L2	RARB	BRCA2	XRCC2	FANCA	GATA1	FANCC	BRIP1	STRA6	FANCG	FANCB	FANCL	FOXF1	RAD51C	BRCA1	FANCE	FANCI	CDC45	FANCF
HP_PALMAR_TELANGIECTASIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PALMAR_TELANGIECTASIA	TCF4	SOX18	MST1	LBR	GPR35	SEMA4D
HP_ABNORMALITY_OF_THE_PALM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PALM	WNT10A	WDR81	DKC1	ITGB4	PERP	RPL10	TNNC1	NDN	BRAF	GPC3	TRPV3	SLURP1	BAG3	TAT	CKAP2L	NEXN	FBN1	BCOR	CHSY1	ROR2	TRAPPC11	KDSR	KRT10	KRT5	RAB11B	YY1	DOCK6	RPS23	NECTIN1	TMPO	HDAC4	TCF4	LAMC2	TRIO	YY1AP1	KRT6B	TCF12	GPC4	ALOXE3	LAMB3	RBM10	LIFR	GJB4	KRT6A	PNPLA1	DSP	CAST	SERPINA12	TWIST1	KANSL1	GJA1	RSPRY1	PRDM16	KRT16	CTC1	SLC39A13	PLEC	CHD7	PEX14	COL7A1	CRKL	TRPM4	AAAS	ALOX12B	SNRPN	POGLUT1	PTCH2	KRT9	TGM1	CARD14	SMC3	TBX4	SEMA3E	GLE1	SLC25A24	BHLHA9	EHMT1	PNPLA6	KDM5C	SDHD	WAC	HPGD	KATNB1	KRT14	SOX18	B4GALT7	KRT1	FKTN	SRD5A3	GJB6	SDHC	RMRP	PKP1	NALCN	TNFRSF1B	TBCE	GJB2	PEX6	RIT1	DSG1	SPTBN1	HRAS	PEX1	RAI1	MBTPS2	KCNN3	MKRN3	SMOC1	BMPR1B	RTEL1	DYNC2I1	NIPBL	TASP1	FLNA	MED25	COG6	POR	AUTS2	TONSL	TELO2	SERPINB7	TSEN54	ARID1B	FLG	CTSB	MTOR	NXN	GATA1	JUP	SLCO2A1	RNU4ATAC	MAP3K7	NPAP1	AKT1	NSD2	CREBBP	BRF1	TRIP11	RPS6KA3	MAGEL2	DVL1	TBL1XR1	PEX11B	MAP1B	SMC1A	USF3	FIG4	PKDCC	DMD	FGD1	TPM2	NOG	CAMK2G	RTL1	KAT6B	RAD21	PLAA	COX14	LMNA	EXTL3	COL2A1	SMARCA2	ASXL1	VPS13B	USB1	FERMT1	SIL1	RAB3GAP2	DES	PEX13	LAMA3	FGFR2	LTBP3	COL14A1	UBE3B	MYBPC3	PRR12	COL17A1	TERT	DOK7	BRD4	SMPD4	BMP4	PIGL	CDK19	ATR	KRT17	MCOLN1	RAF1	PEX5	TNNT2	OTUD5	CSGALNACT1	SNIP1	FOXP1	PEX16	PIK3CA	MYPN	IFT80	TGDS	ATP2A2	KLLN	AAGAB	TERC	NIPAL4	WDR37	NBAS	MYH3	CDK10	MSL3	SLC2A10	CSRP3	MRPS28	NLRP1	CD96	KCNH1	COL11A1	ABCA12	CTSC	MEG3	PTEN	PLOD3	SDR9C7	WNT5A	CRLF1	PEX26	SGCD	PTCH1	NUP88	FGFR1	PTDSS1	PIK3R1	PDHA1	SNORD115-1	ZNF462	CFTR	PEPD	PIEZO2	ANTXR2	EP300	DLK1	GPX4	MAPRE2	C1R	SMARCAD1	FZD2	DYNC2H1	IHH	CEP57	GJB3	TRPS1	IVNS1ABP	SNORD116-1	ATP6V1B2	RIN2	PORCN	TAF1A	TNNT3	MYOD1	WDR35	KCNJ2	MBD5	PLN	FGF9	APC	SUFU	LBR	HDAC8	KDM4B	PLOD1	TRIM8	SMAD4	RIPK4	LDB3	CSTA	ESCO2	AIP	MCTP2	SASH1	PEX12	CTCF	CTBP1	VPS33A	KANK2	POFUT1	COL11A2	TFAP2A	NUP188	DSG2	PRKAR1A	VAC14	PUF60	BGN	XYLT1	VPS51	TGM5	RAPSN	TXNRD2	CRYAB	TP63	TNNI3	ZNF469	DLX4	PTPRF	LZTR1	LMX1B	FHL2	SCUBE3	RHBDF2	NEXMIF	CYP4F22	AQP5	COG4	DPAGT1	CCBE1	PSENEN	PPCS	ADAMTSL1	ORC1	TPM1	LORICRIN	FGFR3	PACS1	DIS3L2	TAFAZZIN	SHOC2	INPPL1	FHL1	NPM1	KRT6C	TSEN34	GDF5	TSEN15	NUP107	KLHL24	EVC	SMS	SEPSECS	PEX19	PIGS	ACTC1	DSE	MYH7	UBR7	IFT43	HDAC6	SCN5A	ACTN2	EXT1	UPF3B	POMP	DPM1	STXBP1	GNB2	NAA10	PEX2	UBR1	MAPK1	RSPO1	LONP1	ITCH	IFT57	NHP2	PWAR1	TRIM37	PARN	ANKRD1	DSC2	KCNK9	SEC23B	AFF3	ADNP	CPLX1	FGFRL1	IGF1R	TNNI2	CIB1	ADAMTS10	G6PC3	DPYD	STAG1	CAP2	MAP2K1	PPP2CA	SNAP29	NECTIN4	ANKRD11	TSEN2	RECQL4	SPECC1L	PTH1R	DYM	SEMA4D	AIFM1	ATP6V0A2	PSEN2	KRT2	HNRNPK	DYNC2I2	OFD1	DOLK	CHST3	RBM20	DVL3	CD28	ASXL2	TTN	PSEN1	CERS3	EVC2	CHST14	KRAS	KRT83	INPP5K	ARL3	MRAS	SLC18A3	CUL4B	ABCC9	SIN3A	GPR101	NGLY1	IFT122	CTLA4	BCR	MTX2	GMPPA	SDHA	NOP10	HERC2	DPH1	GPR35	LETM1	VCL	PPP2R3C	MED12	MST1	HAND2	ATP7A	PWRN1	ZNF292	ASXL3	MYH6	MAP2K2	SLC35C1	PEX10	ZC4H2	ZMYM2	SETBP1	MUSK	LEMD3	TINF2	WRAP53	THOC2	DPYSL5	B3GLCT	SDHB	COL9A2	DDX11	TCAP	SH3PXD2B	ENPP1	GATAD1	LAMA4	CEP55	IGF1	CD4	KLHL15	ADAMTSL2	PEX3
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	WNT10A	PLN	PLEC	SUFU	DKC1	ITGB4	PERP	AAGAB	KRT14	TNNC1	PLOD1	KRT9	BRAF	LDB3	AKT1	ABCA12	TRPV3	SLURP1	BAG3	ABCC9	TAT	TGM1	NEXN	AIP	SASH1	FIG4	DSG1	ATP2A2	TRAPPC11	KDSR	KRT10	KRT5	NECTIN1	TMPO	KANK2	GJB2	CSTA	LAMC2	DSG2	KRT6B	ALOX12B	ALOXE3	LAMB3	KRT1	PIGN	GJB4	USB1	KRT6A	DSP	TXNRD2	CRYAB	CARD14	MBTPS2	PNPLA1	TP63	CAST	SERPINA12	TNNI3	ZNF469	GJA1	PRDM16	CYP27A1	LZTR1	KRT16	CTC1	FHL2	COL7A1	RHBDF2	CYP4F22	FGFR2	AQP5	CTSC	TRPM4	AAAS	PTCH2	PPCS	TPM1	LORICRIN	SDHD	HPGD	PTCH1	TBL1XR1	B4GALT7	FKTN	TAFAZZIN	SRD5A3	GJB6	NPM1	KRT6C	SDHC	PKP1	TNFRSF1B	GJB3	KLHL24	RIT1	HRAS	ACTC1	ERCC6	KCNN3	MYH7	RTEL1	SCN5A	ACTN2	SOX18	POMP	COG6	SERPINB7	CTSB	MTOR	RSPO1	JUP	SLCO2A1	CREBBP	NHP2	PARN	USF3	ANKRD1	DSC2	SEC23B	DMD	LMNA	ASXL1	CAP2	KRT17	MAP2K1	FERMT1	SNAP29	DES	ATP6V0A2	LAMA3	PSEN2	KRT2	HNRNPK	SMARCAD1	COL14A1	DOLK	MYBPC3	COL17A1	RECQL4	TERT	RBM20	CD28	MCOLN1	RAF1	TTN	TNNT2	PSEN1	CERS3	PIK3CA	MYPN	KRAS	KRT83	KLLN	TERC	ANAPC1	NIPAL4	MRAS	NLRP1	CSRP3	GPR101	CTLA4	PLAA	KCNH1	MTX2	GMPPA	SDHA	PTEN	PIGL	NOP10	SDR9C7	KCNJ8	SGCD	VCL	HAND2	MYH6	MAP2K2	CFTR	PEPD	EP300	LEMD3	TINF2	WRAP53	PIGQ	C1R	SDHB	TCAP	IVNS1ABP	ENPP1	ATP6V1B2	GATAD1	LAMA4	TAF1A	CD4
HP_THICK_HAIR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_THICK_HAIR	SMC3	VPS13B	ATP6V1E1	COG4	INSR	AFF4	KCNN3	MSTO1	ATP7A	CLDN1	VPS33A	NEK1	ATP6V0A2	ATP6V1A	ASXL1
HP_ENLARGED_OVARIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ENLARGED_OVARIES	PTEN	FSHR	SDHB	INSR	SEC23B	SDHD	STK11	PIK3CA	AKT1	POR	KLLN	CYB5A	CYP17A1	USF3	SDHC	CYP19A1	ESR1	MID1
HP_ABNORMALITY_OF_GLOBE_LOCATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_GLOBE_LOCATION	NDE1	ZEB2	TBCE	SHH	RTTN	RB1	HYLS1	XYLT1	RRAS	COL1A2	DPM2	RAC3	GPC3	CDC42	SKIV2L	NKX3-2	HSPG2	TGIF1	CDH2	SOS1	MED27	HDAC4	TCF3	FAM149B1	PAK1	RUNX2	TGFB1	ZMPSTE24	ERCC3	FANCF	KATNB1	ERCC4	FANCD2	PAH	RBM10	ODC1	USB1	SMARCE1	PRMT7	UMPS	FGFR1	CHRNG	TRIP4	FGF10	TBCD	SLC39A13	TRAF7	DEF6	EMC10	TOGARAM1	ADK	LMNA	MITF	CDON	CLP1	EHMT1	TRIP12	MED25	LRRC8A	NAA10	IGHM	NLRP3	GLI3	STAT3	COLEC10	FREM1	EFEMP2	ATP6V1A	MAD2L2	NALCN	MED13L	FANCA	SETBP1	PTCH1	CLCN3	NCDN	TGFBR1	DHX37	FBXW11	DDX6	TCF20	FAM20C	BRAF	KREMEN1	RPL35A	RAI1	RPS26	NIPBL	FLNA	PSAT1	SIX3	IFT81	NSMF	TMEM94	TARS1	PLP1	SMS	RPS15A	WDR35	CSPP1	SEMA5A	ALX3	DISP1	RLIM	TERT	KATNIP	PDGFB	ALDH6A1	GALNT2	TGFBR2	PTRH2	RAB3GAP2	STAMBP	FLT4	DYRK1A	MYT1L	FIG4	ZPR1	PIK3CA	PKDCC	SPEN	RPL15	DYNC1I2	ADAT3	CHD8	KAT6B	EEF1A2	INSR	FGFR2	LEMD3	ELN	TBX1	KRAS	FGF20	STIM1	OFD1	MYPN	ATAD3A	QRICH1	FRAS1	TENM3	ADAMTS3	SIK3	TMEM138	FGF8	CDH1	PIGL	HPDL	CDK19	RUSC2	PEX5	DCPS	HELLS	GAS1	MICU1	WDR37	PMM2	FANCE	ALG6	ATP6AP1	ACTL6B	CHRND	RNU4ATAC	PUS7	FLI1	SIAH1	TWIST2	SYNCRIP	KLHL41	TWIST1	AASS	DEAF1	ALX4	TAPT1	AGO2	PPP1CB	RPS19	EMC1	TMEM107	MASP1	PIK3R1	OSGEP	ERCC8	SLC26A2	MKS1	KISS1	ACTA1	EP300	NTRK1	DVL3	SPTBN1	CHST3	MAPRE2	YARS1	KNL1	HNRNPK	KAT8	AFF4	ATP6V1B2	BRCA1	MYOD1	PYCR2	POLR3GL	APC	SUPT16H	RAD21	FLNB	IFT122	KDM4B	CTBP1	STAG2	RYR1	TCTN2	MEGF8	ACTG1	COL11A2	TFAP2A	PSMD12	ZMIZ1	CACNA1G	TMEM216	TBC1D24	NEB	CENPF	RAPSN	TMEM237	MAFB	CYP27A1	LZTR1	KNSTRN	SEMA3E	NKX2-5	RPL5	TNRC6B	WDR11	UFD1	SALL4	SEC24D	CCBE1	RAB3GAP1	AP3B2	PRRX1	FGF3	RALGAPA1	DIS3L2	TFAP2B	COL3A1	CRIPT	CEP290	KCNAB2	PPP1R15B	GLI2	COG1	WASHC5	SLC39A14	OCRL	DSE	SMARCB1	ACTL6A	CNTN1	PIK3R2	ITGA8	UBR7	CPLANE1	SMO	SUFU	MAP3K7	SHANK3	KLF13	GSC	NSUN2	TGFB3	MAPK1	PEX3	COL1A1	NRAS	MUSK	PIGG	PAFAH1B1	FOXC1	LTBP4	CD79B	NODAL	HS2ST1	PDE4D	RTL1	AFF3	SRCAP	CPLX1	SIX2	FGFR3	ESCO2	SNAP29	ANKRD11	BPTF	PGAP3	UGDH	CNOT3	TUBB	PEX6	KIAA1109	KIF7	ALG13	TAF1	MEG3	TCTN3	HS6ST1	AP4S1	ERMARD	LBR	TXNDC15	SIN3A	ATP6V0A2	JAG1	PROK2	TCF12	SEC23A	CTCF	WDPCP	PDE6D	UBE2T	PRUNE1	TAOK1	CHST14	MED12L	C12orf57	ZNF292	ASXL3	FBN1	ATN1	INTS1	PTEN	MOCS2	ZMYM2	RPL31	COL2A1	GJA5	MED12	NSD1	RFWD3	ERCC6	B3GLCT	CASK	WDR73	TSR2	IQSEC2	SOST	SPECC1L	TRIO	GPC4	PRKACB	CITED2	FLCN	RPS7	CTLA4	NKX2-6	ATXN3	ERF	ANKH	DOCK6	AHDC1	BAP1	SATB2	INTU	MPLKIP	COX5A	ALG1	MSTO1	LETM1	CANT1	MAN1B1	TAFAZZIN	FIBP	ACTB	FOXH1	BRPF1	NFIX	LRP2	NGF	COLEC11	SMAD3	PTCH2	ZSWIM6	SLC25A24	PACS2	TBCK	SMC1A	TDGF1	DICER1	RECQL4	SLC1A4	MAPK8IP3	MRAS	HNRNPU	LARP7	NDP	TTC7A	ABL1	RPS10	TASP1	ATRX	AUTS2	PIGV	PRDM16	POGZ	CHD7	FANCL	ARID1B	MTOR	PIGN	IGLL1	NSD2	GLE1	COL11A1	SLC45A1	CCDC32	FAT4	TBL1XR1	CAMTA1	HBA1	FGD1	TACR3	ASXL1	RERE	POLR2A	KCNJ6	DNM1L	EXTL3	TRRAP	TSHR	USP9X	KCNH1	COX7B	PRKG1	LIG4	SRC	BUB1B	PRR12	KIAA0753	DOK7	KCNJ2	PGAP2	LRP5	NTNG2	FOXP1	FARSA	TBC1D20	PPP3CA	RAD51C	CDK10	TCOF1	BMPR1A	CDKL5	TMEM67	TNFRSF11A	RPS24	KISS1R	CCND2	SPOP	PLOD3	MAF	THRA	ZIC1	PRTN3	PIK3CD	WNT9B	NUP88	PTH1R	SEPTIN9	HHAT	CKAP2L	SMARCA2	HLA-DPB1	PIEZO2	NARS1	TAC3	SKI	PIGO	CC2D2A	PYCR1	UBE2A	CHRNA1	BRCA2	TBX2	PRKDC	NXN	CEP57	SNRPN	GATAD2B	GNPTAB	NOTCH3	CIT	FGF9	MLXIPL	ABCD4	ROR2	ZBTB18	ALG8	XRCC4	CNOT1	MCTP2	CD79A	PRPS1	PITX2	KCTD1	IGF2	LAGE3	PSMB8	TMEM231	HMGA2	VAC14	PUF60	NF2	NF1	DLL1	KIDINS220	UBE4B	SLC35A1	ARCN1	ARVCF	ALKBH8	GRIA3	SUZ12	CREBBP	NOTCH2	HUWE1	SLC12A6	AKT1	MFAP5	TANC2	AP3D1	NONO	FZD2	BCAS3	FAR1	POR	SHOC2	TBX15	RPS20	POU1F1	CHSY1	DHPS	MMP23B	IFT43	NIN	SCN1A	GTF2H5	MGAT2	B3GALT6	HS6ST2	RPGRIP1	MEF2C	PROKR2	LAS1L	COL27A1	PEPD	ZIC3	CHN1	RPS6KA3	ALX1	FGFRL1	CTNND1	ANK1	CCNK	DPYD	STAG1	CCDC47	ZIC2	BRIP1	RIPK4	AIFM1	SOX6	SSR4	NUP133	PAX3	ZBTB20	PTPN11	CCDC22	PLCB3	P4HB	GZF1	EFNB1	SYNGAP1	RPL11	MEIS2	ERCC2	MTHFR	SLC18A3	SLC9A6	NGLY1	JMJD1C	SHROOM4	BCR	MTX2	GJA1	LUZP1	TRMT10A	SETD1A	MAP2K2	MID1	TGFB2	EZH2	ORAI1	PIGA	CARS1	GABRD	SOS2	PPP1R21	DNMT3B	KIFBP	WDR4	PRKAR1A	SMCHD1	ACOX1	DPF2	JARID2	ACY1	EED	MSX2	MAT2A	CDK5RAP2	CDKN1C	AGA	RIT1	FANCC	CEP120	PIGW	GREB1L	GATA6	CTU2	TTC26	FH	B9D1	SLC2A10	RSRC1	OTX2	EBF3	RSPRY1	BRCC3	PACS1	FAM111A	GORAB	CRKL	SHPK	ARNT2	PCLO	MARS2	CNTNAP2	LRP4	DDX59	TBX4	PTPN23	GNRHR	B4GALT7	TPRKB	FREM2	CRPPA	POLR1D	STIL	COG4	RPL27	TONSL	HRAS	WDFY3	ALMS1	PDGFRB	TTC37	FUCA1	TELO2	TCIRG1	BCORL1	DHCR7	PPP1R12A	MYH11	TMCO1	ERGIC1	PDHX	COX14	CRB1	FARSB	KMT2E	UBE3B	PIGB	OTUD5	CAMK2A	TGDS	B4GALT1	EPB41L1	ITCH	GATA5	SH3BP2	LMBR1	MSL3	TCF7L2	PHIP	HDAC8	BCL11B	GDF1	GNE	SOX9	POC1A	SMAD4	IARS2	SMAD2	IGF1R	GBA	PTDSS1	TCF4	PHF6	TFE3	EIF2AK3	GATA2	IL11RA	GON7	PIGU	TRAPPC9	SLC29A3	MYLK	PGAP1	HYMAI	HEY2	XRCC2	THOC6	EXOSC2	SERPINH1	PARS2	AKT3	TTI2	FGF17	NOVA2	ZBTB24	RAF1	SPRED1	THRB	KBTBD13	ANTXR1	RPS28	PRKCZ	VPS51	DCHS1	RPL35	DLX4	PHACTR1	PPP2R1A	PPP2R5D	EDEM3	DDX3X	BPNT2	HIRA	PALB2	PLK4	INPPL1	CBL	ATP6V1E1	FANCG	ACBD5	RPGRIP1L	PITX1	HERC1	PDPN	TP53RK	SEC24C	CDCA7	SLC9A7	TPM3	EXT2	TRIM37	PTPN22	ANKRD17	MYH3	B9D2	GAD1	ASPM	AVP	SATB1	ABCA12	KIAA0586	MAP2K1	FOXF1	UBE3A	KMT2A	SLX4	MRPS14	DNAJC21	PIGY	ASXL2	HBA2	FMR1	RNF2	MAN2B1	MIR140	RRAS2	CRTAP	SVBP	CENPJ	HACE1	ALG9	WASF1	RELN	SLC35C1	KCNQ1	CTNND2	SON	RPS29	EPG5	TXNL4A	RREB1	MN1	MOCS1	SH3PXD2B	OGT	DVL1	SPART	CHD3	COMT	BNC2	TRMT1	GATA1	RAD51	DPM1	GPT2	EBP	LMNB1	KCNQ1OT1	DOCK3	FBXO11	ALDH18A1	NELFA	POLR1C	RPL18	AMER1	SET	MMP2	GATA4	KANSL1	DDR2	FBXO31	GTF2E2	BBS7	DPYSL5	DUSP6	PHGDH	CHD4	LRPPRC	KDM5C	WAC	STRADA	KCNMA1	SMG9	COL5A1	HLA-DPA1	KCNN3	TOPORS	GPKOW	POLD1	AGL	FANCB	CDK13	FANCI	MYD88	COA3	AP1G1	SLC12A2	BICRA	SPRED2	SMPD4	IRX5	GRIA4	ADGRG6	XYLT2	GPAA1	ZFPM2	PLAGL1	NBAS	TCTN1	NFASC	ABCC9	DNMT3A	FLII	HNRNPH2	WNT5A	ADA2	PEX1	FN1	NTNG1	EXOSC9	DLK1	ERCC1	GRIP1	GP1BB	YWHAE	VPS35L	TRIM8	IRF4	MED13	RARS2	CTSK	SPRY4	BLNK	KCNK4	RPS17	INTS8	HSD17B4	CHRNA7	VSX1	EXOC6B	BMP2	KDR	ELMO2	CDH11	KAT6A	RMRP	RPS27	DDB1	TPM2	NUP107	ZNF699	RET	NSMCE3	MADD	PALS1	EVC	CLCN6	VANGL2	POLR3A	CDC45	KIF15	GNB2	SLC37A4	WDR19	IL1RAPL1	EXOC2	QARS1	GJA8	RASA2	FANCM	ALPL	LOX	ADAMTS10	GK	OPHN1	DPH1	PPP2CA	P3H1	KDM1A	HTT	HECW2	B3GAT3	ACTA2	SRD5A3	RNF113A	EVC2	CASZ1	POLR1B	GNRH1	GLB1	LMBRD2	RPL26	ITGA3	PLEC	COX8A	SH2B1	WARS2	KCNJ5	BANF1	SPINT2	IFT52	FOXE3	TBR1	BMPER	IPO8	CSNK2A1	POLR1A	AP1S2	SMARCD1	THOC2	ZMYND11	PAK3	LEMD2	EIF5A	PEX2	TRAPPC4	BGN	ZC4H2
HP_ABNORMALITY_OF_GLOBE_SIZE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_GLOBE_SIZE	RERE	FAM111A	SMAD4	FKTN	COMT	ZEB2	ALX4	SHH	B3GALNT2	RTTN	TMEM216	RAD51	RB1	HYLS1	COX7B	KCNJ6	OTX2	FANCC	CEP120	BCOR	NDP	EBP	CHSY1	DAG1	DOCK6	ALDH1A3	POLR1C	SIX6	ERCC3	AP2M1	FANCF	HCCS	ERCC4	INTU	MPLKIP	FANCD2	MAB21L1	ERCC2	MSTO1	B9D1	ARHGAP31	BRIP1	NHS	HMX1	SALL4	PEX7	LRP5	GTF2E2	ARX	CHD7	ESCO2	DOCK7	TOGARAM1	FANCG	FANCL	MITF	FRAS1	PTCH2	SEMA3E	CHST3	RAX	GNAQ	PHGDH	SLC25A24	MBTPS2	NRAS	SOX2	FUT8	ERCC1	FZD4	SBF2	RARB	ERCC5	FREM2	CRPPA	POLR1D	BUB1B	MAD2L2	FANCA	WDR73	SMG9	TKFC	SLC2A1	BRCA1	YAP1	COL4A1	SMOC1	WDR26	POMGNT2	GJA1	MED25	HMGB3	NUAK2	HDAC6	TARS1	PIGV	RAB18	ALX3	CTNNB1	FOXE3	ALDH6A1	CSPP1	PIGN	CEP57	FANCB	TBL1XR1	AKT1	ZNF408	FANCI	NEXMIF	FIG4	IKBKG	FGFR1	PAX6	COX14	PIK3R2	POMGNT1	GLI3	RAB3GAP1	SMCHD1	TBX1	SLC6A1	RAB3GAP2	POMT2	ERCC8	POMT1	SMARCA2	RBBP8	TUBGCP6	MFRP	TENM3	KIF14	PRR12	VAX1	MAPRE2	BMP4	KCNJ1	CASK	ATR	GLIS3	XYLT2	GLI2	VPS13B	ERCC6	POMK	TBC1D20	GDF3	WDR37	RAD51C	KIF7	FANCE	TCTN1	FREM1	TCOF1	CYP1B1	ATOH7	TSPAN12	KIF11	PTCH1	SMO	TMEM107	OSGEP	CRYAA	BUB1	SCN1A	TMEM67	SALL1	DLL4	PRSS56	PITX3	MKS1	TUBB	TRIP13	CRB1	SETD5	CC2D2A	PDE6D	BRCA2	XRCC2	NDUFB11	GRIP1	ACTB	GP1BB	PHYH	VSX2	PQBP1	PORCN	FBN1	OCRL	ABCB6	EOGT	SUFU	LRPAP1	SYCE1	DONSON	VPS35L	RIPK4	KRAS	GDF6	MT-CYB	FBXW11	CHD2	SIX3	C12orf57	TCTN2	TFAP2A	NUP188	RXYLT1	VAC14	PUF60	CENPF	CTDP1	TMEM237	FGFR2	FKRP	ARVCF	ALKBH8	LARGE1	UFD1	ZNF699	ADAMTSL1	MAB21L2	ASPH	TUBGCP4	RPGRIP1L	HIRA	CEP290	PALB2	PLK4	SYNGAP1	GMPPB	PIK3CA	TMEM98	GTF2H5	NOTCH1	DACT1	NAA10	RPGRIP1	SEC24C	BUB3	ACTG1	BEST1	WNT3	TMEM231	HRAS	FANCM	B9D2	CHUK	DPYD	ALX1	RSPO2	PXDN	RECQL4	NCAPG2	B3GAT3	SLX4	TWIST1	RBP4	TCTN3	RNF113A	POLR1B	MIR140	TXNDC15	SIN3A	PIEZO2	JMJD1C	MED13L	RHOA	FOXL2	UBE2T	CPSF1	STRA6	FGF3	PAX2	TBX15	B4GAT1	INTS1	PTEN	TBR1	RFWD3	RREB1	RBPJ	SH3PXD2B	PCYT1A	CAPN15	SLC38A8
HP_RECTAL_POLYPOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECTAL_POLYPOSIS	BMPR1A	ENG	MUTYH	SMAD4	GREM1
HP_CONNECTIVE_TISSUE_NEVI	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CONNECTIVE_TISSUE_NEVI	LEMD3	TSC2	TSC1	PTEN	SLC25A24	IFNG
HP_SCLEROSIS_OF_FINGER_PHALANX	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SCLEROSIS_OF_FINGER_PHALANX	ERCC6	TRPS1	ERCC8	EIF2AK3	GJA1	NGLY1	TONSL
HP_OPEN_OPERCULUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OPEN_OPERCULUM	KIAA0586	GCDH	CSPP1	FH	C2CD3
HP_ABNORMAL_RENAL_MEDULLA_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_RENAL_MEDULLA_MORPHOLOGY	ZNF423	PBX1	WDR19	TMEM67	DYNC2LI1	NPHP3	BSND	DYNC2I1	NPHP4	TTC21B	NEK8	XPNPEP3	RPGRIP1L	ANKS6	CEP164	PKHD1	SDCCAG8	AP2S1	OSTM1	IFT172	PDHA1	CEP83	IFT140	DYNC2I2	INVS	COQ7	DZIP1L	TRIP11	CEP290	CEP120	NIPBL	CRB2	NPHP1	FAN1	TMEM216	TMEM138	MAPKBP1	IFT80	IFT43	DYNC2H1	CEP41	JAG1	AHI1	LONP1	TRAF3IP1	DCDC2	MUC1	GLIS2	ZNF699	DHX16	IQCB1
HP_NARROW_FORAMEN_OBTURATORIUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NARROW_FORAMEN_OBTURATORIUM	HLA-DRB1	CAV1	CCN2	CCR6	KIAA0319L	IRF5
HP_SHYNESS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SHYNESS	AP4E1	NONO	AP4M1	SETD2	AP4S1	DPYD	C12orf4	AP4B1	POLA1	FMR1	RLIM
HP_HYPERESTHESIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERESTHESIA	PSAP	NTRK1	GALC	NF2	ATL1	UNC80	COL1A1	NALCN
HP_ABNORMAL_SHAPE_OF_THE_PALPEBRAL_FISSURE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SHAPE_OF_THE_PALPEBRAL_FISSURE	KAT5	ANKRD17	FANCM	IFT74	KATNB1	HNRNPH2	NDN	RAD51	PALB2	SNRPN	HERC2	UBE2T	MAD2L2	FANCA	FANCC	KMT2C	BRIP1	CLCN3	FANCG	FOXL2	PWRN1	SYT1	GON7	MKRN3	SNORD115-1	SIM1	FANCF	KIF15	OCA2	NSDHL	ERCC4	SLX4	FANCD2	MAGEL2	STXBP1	RFWD3	UBE2A	RNF2	PUF60	LMX1B	BRCA2	XRCC2	NPAP1	MAPK1	BRF1	SNORD116-1	FANCB	FANCL	EHMT1	PWAR1	RAD51C	BRCA1	FANCE	FANCI	CHD1
HP_ABNORMAL_SIZE_OF_THE_PALPEBRAL_FISSURES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_SIZE_OF_THE_PALPEBRAL_FISSURES	RERE	SMAD4	TGFB3	NTNG2	COLEC10	ZMIZ1	TRMT1	CLCN4	RAD51	KANSL1	GTF2I	FANCC	ACTB	NCF1	PAX3	HSPG2	LARP7	LMNB1	ROR2	DOCK3	PIEZO2	FOXL2	DOCK6	TRIP12	MED27	EIF4H	PIGW	FANCF	ERCC4	FANCD2	RBM10	LIFR	ODC1	FIBP	MYLPF	SLC2A10	SRCAP	SALL4	MYCN	RPL10	FTSJ1	BRPF1	ACTL6B	EMC10	MADD	CRKL	COLEC11	FANCL	PCLO	DPYSL5	THOC6	FOXG1	CHD4	CLP1	SLC25A24	PTPN23	RAC1	WAC	SNX14	WDR35	MAPK8IP3	EFEMP2	KCNMA1	MAD2L2	ARHGEF6	FANCA	BCL7B	BRCA1	IQSEC2	SPTBN1	KDM6A	FBXW11	WDFY3	DDX6	TMEM107	BPTF	SMOC1	TCF20	GJA1	TBX1	GPKOW	MED12	PDE4D	NUAK2	ZNF711	AUTS2	PIGV	BCORL1	NXN	RLIM	METTL27	PPP1R12A	ERF	FANCB	CCDC32	MAGEL2	FAT4	DVL1	USP9X	TBL1XR1	CDK13	FANCI	MYT1L	PRMT7	ESS2	DNMT3A	SPEN	CAMK2G	RTL1	PIK3R2	NSUN2	SMARCA2	ELN	DDR2	SLC12A2	RFC2	ZMPSTE24	UBR7	KMT2E	LIG4	DLG3	TENM3	BMP1	UBE3B	PRR12	BICRA	FKBP6	SMPD4	GRIA4	MECP2	RAB18	HPDL	ATR	KCNJ2	PGAP2	STAC3	SLC6A17	FOXP1	DGCR2	FRMPD4	BUD23	ATP6V1A	RAB39B	RAD51C	FANCE	DNAJC30	ABCC9	TCF7L2	PCNT	RNU4ATAC	PUS7	TLK2	BCL11B	MEG3	HNRNPH2	SYNCRIP	CLTCL1	SPOP	AGTR2	VPS37D	RBMX	WNT5A	AGO2	SMO	SEPTIN9	MASP1	PHF6	HHAT	TP63	RNF2	ZFHX4	SALL1	NTNG1	B3GLCT	PIGO	SETD5	CNOT3	DLK1	MAPRE2	ERCC1	COL25A1	USP27X	ALG14	BRCA2	XRCC2	HNRNPK	PURA	KAT8	CEP57	SETD1A	ZNF81	KMT2A	OTUD6B	PAK3	RECQL4	BCOR	EXOSC2	GATAD2B	MOGS	MLXIPL	DONSON	KDM4B	SOX9	RIPK4	MCTP2	ZNF41	PSMD12	KCTD1	MED13	GDI1	DGCR6	LIMK1	ACTG1	NFIB	CLCN3	PGM3	KAT6B	SLX4	CACNA1G	KMT2D	DCHS1	RBPJ	ZNF148	CEP152	HDAC4	PIGL	LMNA	TNRC6B	SLC9A7	EDEM3	HUWE1	CNKSR2	DDB1	AP3B2	TANC2	ARID2	BRAF	ADNP	ORC1	FZD2	BCAS3	PALB2	EP300	TBX15	DMD	PALS1	FANCG	ERCC6	ACSL4	ACTL6A	SYP	KIF15	TXNL4A	TSPAN7	GNB2	DACT1	MAPK1	MUSK	TBL2	MAFB	CHN1	HS2ST1	ANKRD17	MYH3	FANCM	AFF3	IL1RAPL1	ANK1	CCNK	SATB1	MAP2K1	TMEM270	BRIP1	ANKRD11	SOX6	HTT	GPC6	PGAP3	UGDH	CREBBP	MID2	TUBB	STX1A	SCARF2	PIGY	DVL3	BAZ1B	PUF60	KRAS	MIR140	KPTN	ARX	ERMARD	ALG13	LMBRD2	CUL4B	STEEP1	BCR	GTF2IRD2	SVBP	PCGF2	RHOA	UBE2T	STRA6	SOX11	KCNJ5	ALX4	UPF3B	INTS1	WASF1	MAP2K2	RPS6KA3	B9D2	IPO8	ZMYM2	POLR1A	PTCHD1	RFWD3	PYCR1	DGCR8	COG7	EIF5A	CLIP2	TRAPPC4	GTF2IRD1	CEP55	JARID2	HCFC1
HP_ABNORMAL_LENGTH_OF_CORPUS_CALLOSUM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LENGTH_OF_CORPUS_CALLOSUM	SLC35A2	ITGB6	LSS	AHSG	PDHB
HP_NEOPLASM_OF_FATTY_TISSUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEOPLASM_OF_FATTY_TISSUE	ZSWIM6	SEC23B	BMPR1A	CDC73	MT-TP	SDHD	KRAS	MT-TK	MT-RNR1	MEN1	GNA11	RPL10	ABCC6	ALX1	FGFR1	FLCN	CDKN2B	PTEN	MT-TH	APC	AKT1	SDHC	FUZ	ENPP1	MT-TS2	AP2S1	VANGL2	CCL2	SPRED1	CDKN1A	MSTO1	MT-TF	PIK3CA	VANGL1	TBXT	MT-ND5	CDKN1B	MFN2	LEMD3	TAF1	ALX3	SDHB	MT-TQ	CDKN2C	KLLN	USF3	MT-TL1
HP_CORNEAL_EROSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CORNEAL_EROSION	ABCA12	MPV17	EPCAM	TGFBI	FOXC2	CLTCL1	CHST6	TWIST2	ALOXE3	ELP1	FGFR2	FERMT1	IKZF1	TP63	SPINT2	FGF10	KRT3	MBTPS2	COL17A1	HLA-B	CTNS	COL4A5	PLCG2	PAX6	ALDH3A2	NTRK1	COL7A1	GJB2	KIFBP	PNPLA1	SLC39A4	FGFR3	NIPAL4	COL4A3	CERS3	MMP1	PRDM5	WT1	COL4A4	ZNF469	GJB6	ALOX12B	TGM1
HP_DOWN_SLOPING_SHOULDERS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DOWN_SLOPING_SHOULDERS	MLXIPL	SUFU	NTNG2	SRCAP	ZMIZ1	TRMT1	LMNA	SATB1	KDM4B	ELN	FIG4	TMEM270	GTF2I	NCF1	SLC12A2	PSMD12	SPRTN	MED13	EYA1	RFC2	DOCK3	LIMK1	PAX1	MED27	EIF4H	CLCN3	HTT	UBR7	RUNX2	KMT2E	TRPV4	FKBP6	STX1A	IRX5	GRIA4	HPDL	BAZ1B	EFNB1	ACTL6B	CHD7	TNRC6B	BUD23	MYT1L	EMC10	LMBRD2	CUL4B	DPYSL5	DNAJC30	PTCH2	TCF7L2	TANC2	SEMA3E	PUS7	PTPN23	TRIP12	GTF2IRD2	SVBP	DDX6	SYNCRIP	BCAS3	VPS37D	PPP1R15B	MADD	MAPK8IP3	KCNMA1	PTCH1	PALS1	BCL7B	AGO2	ATP7A	TRMT10A	FBXW11	WDFY3	RNF2	WASF1	ACTL6A	BPTF	NTNG1	TCF20	SPTBN1	CNOT3	TBX5	NAA10	HUWE1	BCORL1	RLIM	METTL27	KAT8	TBL2	CLIP2	SETD1A	PIEZO2	BCOR	TRAPPC4	GTF2IRD1	CCDC32	OTUD6B	JARID2	HS2ST1	ANKRD17
HP_OCULAR_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_OCULAR_PAIN	TGFBI	GNAQ	CTNS	BAP1	ZEB1	AGBL1	SLC39A14	VSX1	SLC4A11	GRHL2	CYSLTR2	TCF4	SCN9A	COL8A2	COL17A1	CHST6	OVOL2	GNA11	SF3B1
HP_PAPULE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PAPULE	IL12A-AS1	SEC23B	IL12A	GGCX	PLEC	LRP1	LPIN2	CSTA	TLR4	CTLA4	IL17RA	ATP2A2	ABCC6	AQP5	CLEC7A	IL10	XYLT1	HAVCR2	BRAF	POFUT1	COL14A1	TMC8	KRT5	HLA-B	COL1A1	TGM5	ERAP1	ZMPSTE24	KRT14	IL7	EGFR	IL17RC	GLMN	COL7A1	ELOVL4	KLLN	AAGAB	IL17F	LMNA	IDH1	PSENEN	COL5A2	STAT4	POGLUT1	MBTPS2	UBAC2	ECM1	NOD2	CARD14	SDHD	STAT3	MVK	IFNGR1	MEFV	NLRP3	GJB6	FLCN	SDHC	GNAS	C4A	PTEN	PRTN3	HLA-DPA1	LDHA	CYLD	KIT	CFTR	PEPD	HLA-DPB1	KLRC4	NF1	COL5A1	CIB1	ERCC4	PIK3CA	XYLT2	CCR1	LEMD3	SLC17A9	ANTXR2	IL23R	SDHB	AKT1	NAGA	FAS	TRAF3IP2	TMC6	GNAQ	GJB2	AEBP1	USF3	PTPN22
HP_SKIN_PLAQUE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_PLAQUE	CIB1	KRT14	LORICRIN	COL2A1	SDHD	MPDU1	CTLA4	TSC1	GJB2	CARD14	MEFV	CD28	IL7	TNFRSF1B	TSC2	GLMN	LAMC2	ATP2A2	RASA1	EBP	COL7A1	TRPM4	BTNL2	LDHA	KDSR	ADA2	LAMA3	HLA-DRB1	KRT5	TMC6	UBA1	GJB6	LAMB3	IDH1	KRT83	HAVCR2	KIT	PSMB8	CFTR	TMC8
HP_SKIN_NODULE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_NODULE	BCL6	IL12A-AS1	SEC23B	COL5A1	IL12A	FGFR1	TTPA	HLA-B	BCL2	LEMD3	INSR	G6PC1	BRAF	ENPP1	ASAH1	TNFRSF11B	ABCA1	TLR4	SLC37A4	IARS2	BTNL2	IL10	TSC2	IDH1	CYP27A1	ANTXR2	PPP1R17	COL5A2	GHR	APOB	HMGA2	CYLD	FBN1	FERMT3	COL1A1	MMP2	MC1R	ERAP1	PTPN11	APC	MDM2	DDIT3	CDK4	LDLR	GNAS	COL3A1	GLMN	PTEN	TSC1	NOTCH3	ATP2A2	KLLN	TEK	MLX	IL12B	STAT4	UBAC2	ECM1	PDGFB	SDHD	KIF1B	KRAS	ABCC6	PDGFRB	IFNGR1	MEFV	FUS	PTH1R	LPL	APOA1	SDHC	TNFRSF11A	C4A	NRAS	FGFR2	SALL1	KIT	APOE	APOA2	KIF11	KLRC4	PIK3CA	GJB2	EPHX2	CCR1	MYSM1	SPRED1	CTNNB1	RAF1	DACT1	MMP14	PRKAR1A	IFNG	IDH2	IL23R	SDHB	HLA-DRB1	GLA	ACVR1	AKT1	COL7A1	NAGA	FAS	PCSK9	GJB6	PORCN	USF3	OCRL
HP_SKIN_VESICLE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_VESICLE	STAT3	DKC1	DSC3	PLEC	TINF2	NOP10	WRAP53	MEFV	NPM1	TERT	CTC1	USB1	ATP2C1	COL7A1	KRT5	TERC	NHP2	PSENEN	PARN	POGLUT1	SLC35C1	POFUT1	RTEL1	PPOX	ATP2A2
HP_PUSTULE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PUSTULE	CIB1	HLA-B	PSTPIP1	SCNN1B	SCNN1A	SLC39A4	STING1	JAK3	LPIN2	MEFV	IL7	EGFR	SCNN1G	ADAM17	CTSB	IL17RA	MRTFA	LDHA	TMC6	CTSC	IL36RN	ECM1	CARD14	IL1RN	TMC8
HP_EPIDERMOID_CYST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIDERMOID_CYST	KRT17	APC	CEP57	TSC1	KRT6A	KRT5	CTNND1	PSENEN	POGLUT1	KRT16	POFUT1	CDH1	TSC2	ANTXR1	KRT6B
HP_SKIN_EROSION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_EROSION	COL7A1	KRT14	UROS	DSP	NAXE	PLEC	TGM5	UROD	GATA1	ZMPSTE24	LMNA	CSTA	LAMC2	ATP2C1	COL2A1	LAMA3	KRT5	LAMB3	ARL6IP6	KIT	PPOX	ITGB4
HP_SKIN_ULCER	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SKIN_ULCER	PTPN22	IRF5	CTLA4	DKC1	MPV17	SCN9A	NCF1	SPTLC1	GFI1	CYBA	HLA-B	EPB42	GBA	TRPV3	WNK1	HBB	USB1	LBR	AK2	IL17RA	AQP5	LYST	CCR6	CLEC7A	KRT10	ATL3	HAVCR2	TAP1	KRT1	SLC4A1	PROS1	PGM3	PSTPIP1	COL1A1	SLC39A4	ATL1	ITGB4	MBTPS2	PIGL	CYBB	NFKB1	CD28	CCT5	IL17RC	BMS1	CTC1	NCF2	USP8	DLL4	WRN	CCN2	NOTCH3	RASA1	TAPBP	WAS	WIPF1	NOTCH2	TERC	IL17F	LAMA3	MLX	IL12B	ITGB2	NGF	SPTB	NOD2	GBE1	SPTLC2	PDGFB	STAT3	TP63	HLA-DRB1	PDGFRB	DOCK8	RETREG1	PTH1R	NOP10	SBF2	CDH23	NPM1	TNFRSF1B	PLEC	PRTN3	KIAA0319L	KIF1A	IKBKG	LMNA	OCRL	F12	HLA-DPA1	MEFV	ELANE	CAV1	SRP54	IDH1	KIF11	RTEL1	PEPD	HLA-DPB1	NTRK1	ANTXR2	P4HA2	BTK	TINF2	WDR1	WRAP53	ANK1	TERT	SPTA1	TREX1	TAP2	ADA2	NHP2	CYBC1	TRAF3IP2	GNAQ	PARN	NCF4	TCIRG1	IDH2	PERP	COL3A1
HP_VERRUCAE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_VERRUCAE	CIB1	CXCR4	PIK3R1	LRRC8A	IGHM	DOCK8	DCLRE1C	IL7	CD79A	ATP2A2	IGLL1	TMC6	IKBKG	IVNS1ABP	BLNK	TCF3	FCN3	ECM1	TMC8	CD4	CD79B	CARMIL2	STK4
HP_POROKERATOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_POROKERATOSIS	FDPS	RECQL4	PMVK	ANAPC1	MVK	SLC17A9	MVD
HP_CYANOTIC_EPISODE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CYANOTIC_EPISODE	SCN1A	SCN1B	GABRG2	SCN2A	SCN9A	PCDH19	PSAT1	GABRA1
HP_UPPER_LIMB_HYPERTONIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_UPPER_LIMB_HYPERTONIA	VPS37A	SPG7	TSEN15	TSEN54	TSEN34	TSEN2	SEPSECS	MTPAP	CLDN11
HP_SMALL_HAND	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SMALL_HAND	SMC3	NDN	FAM50A	WDR81	CHUK	RTL1	FGD1	UNC80	MECP2	HDAC8	TBCE	FGFR2	KDM6A	RAD21	ROR2	CDKL5	DLK1	XYLT1	MEG3	HTT	SNRPN	NIPBL	MCTP2	EVC	USP9X	USP7	CTSK	RECQL4	MAPK8IP3	FBXO11	PUM1	GABBR2	HDAC4	LIG4	LTBP3	SATB2	OCA2	CNOT3	KIFBP	SIM1	CENPE	BRD4	CANT1	KCNJ2	SLC6A17	FMR1	RNF2	WRN	EVC2	MAGEL2	CUL4B	HUWE1	COG4	CCBE1	RMRP	CDK10	ADNP	NGLY1	ORC1	SHROOM4	SMC1A	COL11A1	KIF5C	PCGF2	MIR140	NALCN	POC1A	FBN1	HERC2	DPH1	DVL1	NTNG1	KCNJ5	KMT2D	IGF1R	COG1	HPGD	TCF4	PPM1D	PWRN1	SIN3A	TUBB3	MBD5	MKRN3	SNORD115-1	DYNC1H1	GJA1	CTNND2	TRPV4	BPTF	SMARCD1	DPM1	SATB1	TELO2	NSUN2	SON	SEMA5A	PIGN	LAS1L	SLCO2A1	NPAP1	GALNT2	WNT5A	SNORD116-1	AFF4	PWAR1	SPECC1L	COL3A1
HP_COLORECTAL_POLYPOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_COLORECTAL_POLYPOSIS	SEC23B	SDHD	DICER1	POLE	PIK3CA	RNF43	CHEK2	POLD1	KEAP1	SDHC	PTEN	SDHB	MDM2	AKT1	MUTYH	KLLN	AXIN2	MSH3	BMPR1A	USF3	CDKN2A	TP53	GREM1
HP_CHORIORETINAL_DEGENERATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHORIORETINAL_DEGENERATION	NDE1	PRPH2	SAG	VCAN	TSPAN12	NDP	ROM1	OAT	LCA5	CHM	ZNF408	GUCA1A	CYP4V2	ZEB1	TEAD1	GUCY2D	CRB1	PAX2	GRHL2	RPE65	LRAT	EYS	DPP6	COL8A2	EFEMP1	LRP5	SLC25A15	CFI	VSX1	C1QTNF5	TIMP3	RP2	CRX	ADAMTS18	JAG1	HMX1	HADHA	CFH	CTNNB1	SPATA7	ACVRL1	OVOL2	NRL	POU3F4	FZD4	FSCN2	RNU7-1
HP_RECURRENT_SPONTANEOUS_ABORTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_SPONTANEOUS_ABORTION	F2	ABCC6	C11orf80	SYCP3	F13A1	ENPP1	ANXA5	F5	F13B	F12	HTR1A	SERPINC1
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	CCDC65	SPAG1	ODAD2	HYDIN	ODAD1	ODAD3	CFAP298	DNAAF11	DNAAF5	ZMYND10
HP_GIANT_CELL_HEPATITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_GIANT_CELL_HEPATITIS	AKR1D1	AMACR	HSD3B7	VPS33B	VIPAS39
HP_LIMB_TREMOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LIMB_TREMOR	CARS2	PGAP1	LMNB1	CACNA1G	UBE3A	ITPR1	DDC	SNRPN	SLC12A6	CIZ1	ANO3	TUBB4A	PMP22	ITPA	MPZ	COL6A3
HP_ORAL_MUCOSAL_BLISTERS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORAL_MUCOSAL_BLISTERS	KRT5	COL17A1	LAMB3	KRT14	ITGB4	PLEC	LAMC2	MMP1	COL7A1	DSG3	LAMA3	ITGA6
HP_ABSENT_SKIN_PIGMENTATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_SKIN_PIGMENTATION	TYRP1	KIT	SNAI2	OCA2	MC1R	TYR
HP_DECREASED_ABSENT_ANKLE_REFLEXES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_ABSENT_ANKLE_REFLEXES	PGM3	OPA1	SACS	SLC25A4	DYSF	VPS13A	HARS1	KLHL9	RAI1	SQSTM1	TWNK	POLG2	PLEKHG4	CADM3	MYOT	ATXN3	MRE11	OPA3	ATP6AP2	MFN2	RRM2B	GNE	NEFL	GJB1	ALDH18A1	C19orf12	ARL6IP1	POLG	PDK3	VCP	HINT1
HP_SPARSE_OR_ABSENT_EYELASHES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_SPARSE_OR_ABSENT_EYELASHES	EDARADD	DSC3	ALX1	CLDN1	RIPK4	TWIST2	BRAF	DPH1	FIG4	MAP2K1	DOLK	NECTIN4	EBP	RECQL4	MBTPS2	NECTIN1	ZMPSTE24	KANK2	APCDD1	POLR1C	ANTXR1	VAC14	LPAR6	GJB2	GTPBP2	ODC1	MPLKIP	TSR2	TP63	LMNA	DLX4	GJB6	KRAS	EPS8L3	BLM	POLR1B	ANAPC1	NHP2	RPL21	DSP	CDH3	FRAS1	LRP1	ITGA3	TCOF1	PHGDH	NOP10	SOX18	COL11A1	GJA1	EDA	LIPH	DKC1	WDR35	POLR1D	RMRP	SNRPE	MTX2	EDNRA	BANF1	HR	EDAR	DSG4	SMARCA2	KRT25	HOXC13	ALX4	NF1	MAP2K2	JUP	TRPS1	KREMEN1	POLR3A	B4GALT7	KRT74	SPINK5	SF3B4	KRT85	LSS	CST6	RNU4ATAC	TMCO1	HRURF	CWC27
HP_ABSENT_SHORTENED_DYNEIN_ARMS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABSENT_SHORTENED_DYNEIN_ARMS	DNAAF3	DNAAF1	TTC12	DNAI1	NME8	ODAD1	ODAD3	CFAP298	CCDC39	DNAAF11	CFAP300	DNAL1	DNAAF5	ZMYND10
HP_METABOLIC_ALKALOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_METABOLIC_ALKALOSIS	HSD11B2	SLC26A3	SLC12A3	SCNN1B	KCNJ5	KCNJ1	BSND	SLC12A1	CACNA1D	SCNN1G	CLCNKB	NR3C1	IKZF1	SCNN1A	CLCNKA	KCNJ10	NARS2	HLA-B	CLCN2
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	SCNN1B	DCLRE1C	AICDA	RAG2	ZAP70	SCNN1A	SCNN1G	USP9X	UNG	GLI3	MGAT2	RAG1
HP_CHRONIC_HEPATITIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_HEPATITIS	ALMS1	AIRE	RFX5	RFXAP	CIITA	RFXANK	CD40LG	HBB	C4B	PGM1	IL21R
HP_CHRONIC_HEPATITIS_DUE_TO_CRYPTOSPORIDIUM_INFECTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_HEPATITIS_DUE_TO_CRYPTOSPORIDIUM_INFECTION	RFX5	RFXAP	CIITA	RFXANK	IL21R
HP_MITOCHONDRIAL_RESPIRATORY_CHAIN_DEFECTS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MITOCHONDRIAL_RESPIRATORY_CHAIN_DEFECTS	MT-ND4L	SLC3A1	PPM1B	MT-ND6	MT-ATP6	DNAJC30	MT-ND2	CAMKMT	MT-CO3	MT-ND4	MT-ND1	TRMU	MT-CYB	FBXL4	NDUFS2	MT-CO1	CYP27A1	PREPL	PNPT1	MT-ND5
HP_BIVENTRICULAR_HYPERTROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BIVENTRICULAR_HYPERTROPHY	MYL2	ATP6V1E1	PRKAG2	TNNC1	ALG12	CACNA1D	TALDO1	DEF6
HP_EPILEPTIC_ENCEPHALOPATHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPILEPTIC_ENCEPHALOPATHY	KCNQ2	CAD	AFF3	CNPY3	SZT2	HCN1	ADAM22	KMT2E	CDKL5	DNM1L	DPM2	SCN1A	DOCK7	SYNGAP1	WWOX	SCN8A	STAG1	SIK1	NECAP1	NTRK2	BOLA3	SLC6A1	CHD2	CYFIP2	KCNT2	KCNT1	ATP6V1A	NSF	GABRB2	GLS	ARHGEF9	AP2M1	PNPO	UGDH	CARS2	SYNJ1	CELF2	PAFAH1B1	SCN3A	AARS1	STXBP1	KCNB1	ROGDI	RNF13	PHACTR1	SCN2A	ST3GAL3	DCX	PPP3CA	SLC25A12	DNM1	DPAGT1	AP3B2	GABRB1	ARX	PACS2	SLC35A2	COQ4	TWNK	GRIN2A	ARV1	SPTAN1	DENND5A	SLC1A2	CACNA2D2	CLCN4	PLCB1	SCN1B	FRRS1L	GUF1	SLC2A1	CPLX1	FGF12	CACNA1B	MDH2	EEF1A2	TBC1D24	PIGA	GRIN1	NUS1	SLC13A5	PMPCB	SLC25A22	GABRB3	GRIN2D	HNRNPU	NEUROD2	CUX2	MEF2C	GNAO1	NRXN1	MDH1	GABRG2	KCNQ5	KCNA2	DHDDS	GRIN2B	ALG9	CACNA1A	NEXMIF	CACNA1E	FCSK	PIGP	GABBR2	PARS2	GABRA1
HP_ORAL_PHARYNGEAL_DYSPHAGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ORAL_PHARYNGEAL_DYSPHAGIA	GRIN1	SLC2A3	SETD1B	ADNP	CACNA1I	CAMK2B	FLCN	MED12L	ATP1A2	GIPC1	RAI1	PRICKLE2	TSEN34	KCNQ5	MBD5	NECTIN1	ZMYND11	CIC	CDH15	ARHGAP29	TSEN15	TRPM3	KIF1A	DLL1	ASH1L	TSEN2	ATP1A3	NBEA	SEPSECS	CUX1	KIRREL3	CNTNAP1	ASPA	CLTC	CAMK2A	HIVEP2	YY1	DOCK8	RAB11A	DLX4	CACNA1A	TANGO2	SLC1A3	NOTCH2NLC	TCF4	CTNS	ADCY6	CHAMP1	EXOSC9	PPP3CA	CSNK2B	MTRFR	DEAF1	UBB	HTT	EPB41L1	GRIN2B	BRSK2	SET	IRF6	EEF1A2	TSEN54	ERBB4	TAF1	MSX1	SYNGAP1	MYT1L	TAOK1	BMP4	CACNG2	DLG1	SCUBE3	TP63	ASAH1	GRHL3	DYNC1H1	ZNF699	NGLY1	CDH1	KDM5B
HP_NEURONAL_LOSS_IN_BASAL_GANGLIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEURONAL_LOSS_IN_BASAL_GANGLIA	MAPT	SCO2	NDUFS2	VRK1	SURF1	NDUFAF3	NDUFB8	HTT
HP_CSF_LYMPHOCYTIC_PLEIOCYTOSIS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CSF_LYMPHOCYTIC_PLEIOCYTOSIS	TICAM1	CACNA1A	SAMHD1	PRRT2	RNASEH2B	RNASEH2C	RNASEH2A	TREX1	TBK1	TLR3	UNC93B1	ADAR	ATP1A2	IFIH1	TRAF3	SCN1A
HP_AGENESIS_OF_LATERAL_INCISOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGENESIS_OF_LATERAL_INCISOR	MSX1	WNT10A	BLM	LRP6	NAA10	IRF6	DLX4	B3GLCT	NECTIN1	WNT10B	FGFR1	PAX9	AXIN2	BMP4	ARHGAP29	DLG1	EDA	EDARADD	TP63	BCOR	TGFA	SUMO1	CDH1
HP_AGENESIS_OF_MAXILLARY_INCISOR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_AGENESIS_OF_MAXILLARY_INCISOR	EDA	MSX1	EDARADD	BCOR	WNT10A	RIPK4	BLM	LRP6	NAA10	B3GLCT	TGFA	SUMO1	IRF6	WNT10B	FGFR1	PAX9	AXIN2
HP_TALL_CHIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TALL_CHIN	TLK2	MYH8	APC2	SETD2	NSD1	EIF2S3	OPHN1
HP_LONG_EAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_LONG_EAR	EIF5A	KDM3B	DPYD	EED	WNT7A
HP_MENOMETRORRHAGIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MENOMETRORRHAGIA	FGG	ITGA2B	FGB	FGA	ITGB3
HP_CLEFT_HARD_PALATE	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLEFT_HARD_PALATE	ZEB2	EIF4A3	NEK1	AMMECR1	NUAK2	TP63
HP_ABNORMALITY_OF_THE_PERIPHERAL_NERVOUS_SYSTEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_THE_PERIPHERAL_NERVOUS_SYSTEM	SNAI2	TNPO3	NOS1AP	COMT	NOTCH2NLC	TMEM237	ZEB2	CEP120	NALCN	PRNP	CHCHD2	SEMA6B	CCDC28B	RAD51	YEATS2	FBXO38	LEPR	SHH	PARK7	PMP22	LMNA	FXN	TBX5	FANCC	FLVCR1	PLA2G6	TIMM8A	DYSF	TGIF1	MTMR2	CEP41	WDR45	TBP	ATXN1	TMEM67	CYP27A1	PIGW	RET	MPZ	PAX3	WFS1	FANCF	AHI1	ERCC4	NEFL	SBF1	NHLRC1	FANCD2	MITF	SACS	LIFR	DDX59	GCK	IGHMBP2	FBLN5	CDON	FOXH1	SALL4	ERBB2	IL12A	FGF8	LAMA2	FGFR1	KCNE2	LRSAM1	TMEM216	MYH14	EDN3	FANCL	NTRK1	COL5A2	GDAP1	SBF2	TDGF1	PLP1	MFN2	GDNF	SPTLC2	JPH1	PSAP	MBTPS2	KIF1B	SH3TC2	IL12RB1	CAV1	TXN2	SNCA	LEP	SOX10	RMRP	MAD2L2	SUCLA2	AKAP9	FANCA	STIL	NRTN	B2M	GALC	KIF1A	VPS11	ATP1A3	SIX3	SYT2	TCF4	SCN9A	LYST	CACNA1A	CCT5	CALM3	NDRG1	GJC2	SCN5A	CPLANE1	PTCH1	SPG21	FIG4	EBP	DNAJC6	MAPT	ZIC2	NPHP1	PODXL	PIGV	ATXN3	PNKP	DEGS1	BDNF	RAB7A	DISP1	GATA1	KIAA0586	DHCR7	CREBBP	ANK2	BCOR	PIGN	FANCB	FGD4	MYO1H	FANCI	HK1	LRRK2	REEP1	POU2AF1	ATP7A	DYNC1H1	FBXO7	PLOD1	HEXB	PRKN	DBH	CADM3	PRX	CISD2	WNK1	TBX1	GLUD2	SAMD9L	ERBB3	ERCC3	PRPS1	ARSA	VPS13C	L1CAM	INPP5E	TRDN	KIT	LTBP3	SMO	OPA1	COL1A1	TTR	CEP104	SLC25A15	SCN11A	COQ2	IRF5	GBA	SPIB	PGAP2	DHH	GAS1	ERCC6	MTRFR	RRM2B	TBC1D20	MKKS	OTOF	PDK3	RAD51C	FANCE	CTDP1	BRAT1	NFASC	HSPB8	SPTLC1	IDUA	DLL1	MFF	VPS13A	ABCD1	NR4A2	NODAL	RETREG1	GIGYF2	ECE1	ATRX	ELP1	PHOX2B	SEPTIN9	MKS1	ERCC8	EIF4G1	CSPP1	ZFHX4	SLC1A3	ARX	EGR2	BSCL2	ARL13B	MECP2	TMEM138	EP300	SIGMAR1	PIGO	SETX	PEX6	COL25A1	BRCA2	XRCC2	MATR3	GP1BB	RFC1	BRCA1	GARS1	SNTA1	PPOX	TCTN2	AIFM1	MOGS	TPI1	LITAF	RAI1	TSPYL1	KCNQ1	LGI1	PNPT1	CALM1	STAG2	PINK1	GABBR2	DEPDC5	GSN	MMEL1	LIG3	CYP11B2	HSD17B4	TRPV4	CHCHD10	GMPPA	PIBF1	CHRNA3	TCTN1	PIGL	ARVCF	DNM2	GLI2	ACTG2	SNCAIP	TWNK	HPDL	UFD1	CC2D2A	SH2B1	DNAJC13	PTRH2	EDNRB	SLC12A6	KCNE1	BBS1	SLC6A2	NSD1	HIRA	CEP290	SORD	PALB2	SETD2	ARL6	ATXN10	MED25	EPM2A	SMC1A	DIAPH3	FANCG	SLC6A8	TUBB3	FOXF1	SETBP1	GJB1	B9D1	POLR3A	GNB2	KCNJ5	NAA10	CAV3	TYMP	SEC24C	CYB561	CACNA1C	TBC1D24	SEMA3D	ATXN8OS	MYH3	FANCM	APC2	MT-TT	ZNF423	SNAP29	BRIP1	CEP126	SCN3A	VCP	SIM1	SPTBN4	NMNAT1	ATL3	ASCL1	SUMF1	KATNIP	CBY1	PGAP3	KITLG	SLX4	MORC2	KIFBP	SCN4B	GLA	ATL1	SCN10A	RAD21	UQCRC1	NEU1	SLC18A2	FAM126A	KRAS	LMNB1	ARHGEF10	HSPB1	ACOX1	NGLY1	JMJD1C	RELN	TFG	POLG	ATXN2	RPGRIP1L	ADH1C	HYLS1	ATP1A2	ARMC9	TYR	HTRA2	PLEKHG5	FBN1	DCAF8	UBE2T	CALM2	GFM2	SUFU	AARS1	GBE1	SAMD12	SPG11	ARL3	VPS35	SYNJ1	TNFSF15	ABHD12	TMEM231	COL5A1	SREBF1	MARCHF6	AAAS	SF3B4	RFWD3	UCHL1	PIGY	KCNH2	FMR1	SEMA3C	RREB1	MPV17	COMP	STARD7	DHX16
HP_RECURRENT_EAR_INFECTIONS	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_RECURRENT_EAR_INFECTIONS	IDS	PIK3CD	ALG12	ODC1	LEP	DDOST	SPTBN1	KNSTRN	GFI1	ELANE	UBE2A	IDUA	SRP54	TCIRG1	SP110
HP_EPIGASTRIC_PAIN	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EPIGASTRIC_PAIN	CTRC	ALMS1	MET	SPINK1	CTNNB1	CD46	CFH	CFI	HELLPAR
HP_CLEFT_LIP	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CLEFT_LIP	RERE	KAT5	PIGG	SMAD4	SUFU	PTCH1	FKTN	OFD1	GDF11	PROKR2	SHH	FLNB	GATA1	HYLS1	RIPK4	GPC3	ESCO2	SMOC1	SIX3	CEP120	TGIF1	CTBP1	STAG2	NECTIN1	NELFA	MED12	GREB1L	TFAP2A	POLR1C	RPL18	RPS17	RPS7	AMER1	GPC4	INTU	FGD1	RPS28	LETM1	DDX59	FAM20C	MYLPF	DYNC2H1	SPOP	IRF6	ARHGAP31	TP63	CCDC32	CDON	RPL35	KANSL1	GRHL3	FOXH1	DLX4	DLL1	CC2D2A	FGF8	FKRP	NSD2	SEMA3E	FGFR1	ZIC2	MTHFR	CHD7	RPL5	FOXA2	GLI2	HOXD13	EIF2S3	ALX3	COLEC11	CILK1	DDX3X	FRAS1	PTCH2	DVL3	RPS27	NEK1	HESX1	TDGF1	RET	MEOX1	MID1	ZSWIM6	PHGDH	BMP4	DHODH	FZD2	RPGRIP1L	VANGL2	GAS1	CPLX1	FREM2	COLEC10	POLR1D	RPS20	PHF8	STIL	SMG9	NUP107	SMC1A	RPL27	YAP1	DSE	CYP26C1	NBN	RPL35A	RPS10	ITGA8	OTX2	DYNC2I1	RPS26	WNT4	NIPBL	TXNL4A	GJA1	MSX2	NODAL	NUAK2	PIGV	RPS15A	NAA10	MEIS2	DISP1	JUP	MKS1	PORCN	POMT2	KATNIP	BCOR	IFT57	PIGN	NSDHL	TMCO1	DVL1	MASP1	RIC1	ANKRD17	CHUK	RPL15	RSPO2	ASXL1	FGFRL1	CTNND1	GLI3	SPECC1L	TRRAP	UBB	FOXC2	C2CD3	ACTB	FOXF1	LHX4	FGF20	POMT1	DYNC2I2	PROP1	VAX1	CDH1	SMPD4	POU1F1	RPS19	EFNB1	RAI1	RPL11	SMO	CHST14	TGDS	TCTN3	POLR1B	EVC2	RPL26	KIF7	SLC2A10	TCOF1	EVC	B3GALT6	FLII	RPS24	NSMF	DEAF1	WNT5A	TAPT1	ADA2	LMX1B	WNT9B	MSX1	SUMO1	INTS1	TFE3	TRAPPC9	SLC29A3	RPL31	ALX4	B3GLCT	SF3B4	RPS29	EPG5	IFT80	TSR2	TCTN2	TBX2	CPLANE1	WNT3	PAX3	IQSEC2	GRIP1	SMCHD1	WDR35	LARGE1
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	KAT5	POMT1	ORC1	SIAH1	GDF11	ZEB2	FKTN	ORC4	CDC6	RAD21	B3GALNT2	LMNA	HYLS1	SMAD4	BRAF	CRPPA	SMCHD1	MAP2K1	BCOR	GMNN	PTDSS1	HYAL1	PIEZO2	DAG1	SIX3	B4GAT1	DGCR6	PPP2R5D	DHCR24	COL4A1	RPS23	SOX6	MAP2K2	ZMPSTE24	LIG4	RXYLT1	POMT2	KAT6B	POMGNT2	PRR12	FKRP	TBX1	BICRA	COL2A1	AMER1	CARS1	NSUN2	SON	DGCR8	POMGNT1	DGCR2	WBP11	KRAS	HS2ST1	TCTN3	CUL3	CDT1	LARGE1	CDH11	STAG2	FOXP2	KIF7	POMK	CDC45	ESS2	RNU4ATAC	ORC6	AMMECR1
HP_ABNORMAL_T_CELL_ACTIVATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_T_CELL_ACTIVATION	TGFB1	EPG5	CD40LG	LEPR	CARMIL2	LEP	CASP8	MAGT1
HP_ABNORMAL_LIVER_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LIVER_MORPHOLOGY	IFNGR1	CTSA	REL	DDRGK1	FCGR2A	CCDC28B	RRAS	DPM2	CDKN1C	GPC3	PRKCSH	AGA	FAH	SKIV2L	RIT1	TCIRG1	YARS2	SUMF1	PEX3	PDE8B	TCF3	UNC45A	TGFB1	APOB	TTC26	LDLRAP1	AXIN1	MET	C1QBP	PSAP	MYORG	ATRX	B9D1	CLCN7	BBS5	XRCC4	CD3D	CC2D2A	IL12A	PYGL	CTC1	PHKB	DLD	CEP290	MARS1	CEP19	PCCB	GBA	DEF6	RIPK1	NHP2	PRF1	ACADVL	TOGARAM1	SHPK	TREX1	ADK	NDUFAF3	PEX5	CNTNAP2	HBA1	ACADS	SC5D	IFIH1	PSTPIP1	SLC20A2	RNU7-1	SLC25A13	BBS7	PNPLA6	CIITA	HSD3B7	HBA2	TSC1	MVK	LRRC8A	IL12RB1	ABCD3	IGHM	NLRP3	NDUFS8	DNAJB11	CALR	CYP7A1	SDHD	HBB	PEX6	TKFC	SPTBN1	JAK1	SGSH	SLC25A19	LYST	ALMS1	NDUFAF1	SERPINA1	PHKA2	GALM	TRAPPC11	RTEL1	NDUFB10	IL1RN	DYNC2I1	CD96	RMND1	MIF	LRP5	PRKACA	TTC37	PEX12	FUCA1	ARMC5	RNASEH2C	PCSK9	IFT43	JAG1	HYOU1	XK	GCLC	TIMMDC1	SLCO2A1	TP53	NPC2	PTRH2	NPHP3	AKR1D1	NCF4	WDR19	APOE	PEX16	POU2AF1	FADD	DCDC2	PKD1	SP110	ZPR1	DHDDS	PKHD1	MT-ND1	GANAB	LACC1	AIRE	IDS	MYPN	COX14	TRIM32	PEX11B	INSR	GALNS	ADAR	NDUFAF4	GNAS	VPS4A	NR1H4	GBE1	IL17RA	MAN2B1	KCNH1	RABL3	KRAS	LIG4	NGLY1	GALE	FARSB	CD19	IGF2R	CTLA4	SLC4A1	COG8	CORIN	PEX26	NDUFS7	CLPB	PIGM	TPP2	FLT1	IL2RB	IRF5	SRP54	DOCK6	GLIS3	MT-TK	OTUD5	MKKS	TSC2	BTNL2	B4GALT1	ATP8B1	ERCC6	RRM2B	MICU1	USP18	HADH	ITCH	TERC	ABCB11	NFS1	LMNA	PMM2	SPTB	SLC6A14	ATP6AP1	SH2D1A	RNU4ATAC	TFR2	STX11	IDUA	NLRP1	FASLG	VPS13A	SNX10	PEX14	TET2	GFM1	HLA-DRB1	GNE	FAS	SAA1	TTC7A	RHAG	IFNG	GUSB	RHD	LIPA	ARL13B	BRCA2	SDCCAG8	TMEM107	CBS	MMAB	DNAJC21	ERCC8	UNC13D	CPT2	TFE3	EIF2AK3	TMEM67	ADA	MT-ND6	DLL4	UROD	TNFRSF13B	SLC29A3	MKS1	SLC40A1	APOA1	IARS1	HYMAI	PEX13	IL2RG	ZNFX1	B2M	ATP6AP2	ANK1	YARS1	SMPD1	SEC63	COG4	SLC30A10	IFT172	GSTM3	ETFA	WDR35	RNASEH2A	AGGF1	ADA2	ATP6V1B2	CAV1	ACP5	AKT2	IL18BP	PTPN11	IQCB1	TNFRSF11A	EFL1	NDUFB3	RINT1	LBR	MYBPC3	ICOS	ABCC2	MYL2	KCNJ11	PEX1	ETFDH	INPP5E	PRKCD	LYRM4	G6PC1	ASAH1	APOC2	RAF1	KIF20A	CEP164	FOXRED1	CLEC7A	DDOST	POLG	TCTN2	OSTM1	NSMCE2	GLB1	LIG3	TALDO1	PRKCZ	PTPRC	UCP2	HNRNPA2B1	CSPP1	ALDOB	PCK1	TMEM199	PSMG2	TMEM237	SLC25A20	STEAP3	FGFR2	BRCA1	ANTXR1	NCF2	MPL	CD247	NDUFAF2	KRT8	MUC5B	CTSC	HMGCL	PALB2	CD27	TMEM70	ARG1	DIS3L2	SLC37A4	TJP2	MYRF	KCNAB2	NPM1	ARL6	SMAD4	AP1B1	SFTPA2	VIPAS39	AGPAT2	HNF1A	COG1	PPARG	ANKS6	STAT3	EDNRA	PIGS	STOX1	SOS1	RPGRIP1L	PSMB4	CD70	HADHA	PDPN	KLF1	FECH	NOTCH1	HGSNAT	TMEM126B	TRMU	NRAS	SOS2	ERCC4	LMNB2	MT-TE	TRAF3IP2	TRIM37	CD79B	TMEM231	SLC22A5	RTL1	B9D2	RUNX1	HSPG2	PCCA	NCF1	ITK	CLDN1	EPB42	NDUFS3	G6PC3	RAG2	ACAD9	BAP1	PKD2	ZAP70	RFXAP	DCLRE1C	SPEN	AP1S1	NDUFB11	MPI	COA8	IRAK4	HMOX1	PC	RASGRP1	RBCK1	NDUFS4	OCLN	LZTFL1	BCS1L	ALG8	ASXL1	PSMB9	GDF2	DGUOK	CHD7	RFXANK	IL2RA	ALG13	MPC1	MEG3	PIK3CA	RFT1	TCTN3	NEU1	RAC2	SCAPER	KPTN	RRAS2	TRAF3IP1	JAK2	BBS10	TXNDC15	RMRP	MT-TV	ENPP1	MT-ATP6	SNX14	SYK	PDE11A	FOS	CBL	ATP7B	NOP10	SCYL1	MMUT	GPR35	RHCE	BBIP1	PEX10	PEX2	BBS2	MT-ND4	NDUFA11	TNFRSF1A	WDPCP	SOX10	ALG9	TNFSF15	TTC8	SLC35C1	GAA	KCNQ1	STXBP2	GPC4	SOCS1	SLC25A15	ABCB4	NDUFV2	NDUFA6	HBG1	IL7R	TINF2	GNMT	EARS2	CCDC115	PDGFRL	GPIHBP1	MT-ND5	F5	ACVRL1	CA2	NEK1	ENG	WT1	SLC7A7	EXTL3	MPV17	COX4I2	RBM8A	RAB27A	KIF12	NUBPL	BTK	COG7	ADAMTSL2	TNPO3	CYP7B1	DKC1	CASP8	LPIN2	TNNT2	DPM1	SDHA	FBN1	MT-ND3	NDUFV1	CP	KCNQ1OT1	TERT	SUCLG1	TCF4	MED12	PSMB10	ABCA1	ACAT1	DZIP1L	IGKC	COX5A	RAG1	IFT27	ALG1	PTPN22	GALK1	KRIT1	NDUFS6	CD28	DNAJC19	XIAP	IFT74	CASP10	LPL	GALT	JAM3	MADD	PCK2	NDUFS1	PHKG2	FDX2	TSFM	CAVIN1	LRPPRC	EWSR1	NAGLU	RECQL4	SBDS	ARHGAP31	TRPV6	MRAS	LDLR	TNFRSF1B	GCDH	HPGD	NDUFS2	AMACR	NPHP4	KCNN3	IL6	SLC17A5	NPHP1	POLD1	IFT140	CTNNB1	BTD	HNF1B	STAT1	SLC2A1	AGL	PRDM16	NAGA	TRMT5	CPOX	SPTA1	CIDEC	C1S	HBG2	IGLL1	MT-TW	GATA2	MYD88	AUH	SCARB2	PDGFRB	HEXB	MRPL3	ACADM	LIPE	VPS33B	DHFR	CEACAM6	RERE	MEFV	USB1	FBP1	SFTPC	DNASE1L3	KCNN4	MICOS13	CD55	HAVCR2	CYBB	PNPLA2	PTPN2	PLIN1	HJV	FERMT3	KRT18	GLRX5	SPRED2	ELN	LYZ	SPIB	RFX5	JAK3	HFE	TARS2	MFN2	NCKAP1L	CPT1A	FARSA	ETFB	CDIN1	PLAGL1	ABHD5	IGHG2	AP3B1	TBX19	TCTN1	LTBP3	FOXP3	CFTR	MRPS28	ABCG8	PRKAR1A	HMGCS2	SLC39A4	BICC1	CYBC1	BMP2	TFAM	MMAA	SRSF2	COG6	HAMP	COG5	ANKRD55	CFAP418	MAGT1	PEPD	MTTP	ARSB	PEX19	USP53	BSCL2	ACOX1	DLK1	SLC51B	TUFM	PDGFRA	DAXX	DYNC2H1	TTC21B	NEK8	POLG2	MCM4	C2orf69	FGA	GNPTAB	APC	SAR1B	FLNC	EOGT	MOGS	NDUFA1	PLEKHM1	GPD1	NDUFB9	MLXIPL	ASL	NDUFAF5	IRF4	TMEM216	TKT	INPPL1	CD79A	ABCC6	MT-CYB	BOLA3	XYLT1	CTSK	IGF2	BLNK	PDGFB	ABCC8	VPS33A	MMEL1	PSMB8	SLC51A	HSD17B4	BBS9	HADHB	TNFRSF13C	STN1	CD40LG	SLC26A9	UBE4B	IL17RC	VCP	NDUFAF8	NOTCH2	NHLRC2	IL17F	DCTN4	CASR	DPAGT1	BBS1	ZNF699	ABCG5	MT-ND2	PTEN	ERCC1	AP3D1	CD81	NEUROG3	TNNI3	CARS2	RNASEH2B	CD3E	PGM1	SLC25A1	MCCC1	XPR1	SURF1	C4B	MMP23B	ATAD3A	CR2	SLC9A3	KIF3B	PALLD	MRPL44	TNFSF11	SLC34A2	TMEM165	GNB2	RPGRIP1	RHBDF2	TYMP	ASS1	LARS1	PARN	ERBB3	FAM111B	GIMAP5	SAMHD1	CYBA	RASA2	MT-TL1	PIK3R1	GNS	LCAT	CLCA4	BBS12	CCDC47	DYNC2LI1	BBS4	VPS45	SEMA4D	GUCY2D	HNF4A	INVS	DYNC2I2	SCO1	NAGS	PIK3C2A	OFD1	CDKN2A	STX1A	CASZ1	BAAT	UQCRB	PIEZO1	MT-TN	HNRNPA1	LZTR1	IFT122	CEACAM3	MTX2	ACTG2	IL21R	NPC1	LUZP1	SLC2A2	MST1	ATP7A	ALG2	SF3B1	BMPER	COX15	CTNS	POLR3A	PIGA	GABRD	SKI	WRAP53	SLC11A1	STAT4	IFT80	CYP19A1	PPP1R21	RBPJ	JAM2	ATPAF2	MRPS7	KIT
HP_ABNORMAL_NEURAL_TUBE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_NEURAL_TUBE_MORPHOLOGY	MLXIPL	SUFU	PTCH1	COMT	SUPT16H	COLEC10	FLNB	TMEM216	RAD51	KANSL1	INPP5E	SHH	POMT2	FUZ	BRAF	GTF2I	SIX3	FANCC	TBC1D24	NCF1	TGIF1	STAG2	LIMK1	H19	EIF4H	RUNX2	AMER1	FANCF	ERCC4	TBX1	PUF60	FANCD2	ITGB4	FIBP	VANGL1	CDON	HMX1	FOXH1	DLL1	HES7	GDF6	BMS1	FGF8	FGFR1	ZIC2	MESP2	ARVCF	FANCB	GLI2	TNXB	SALL4	UFD1	FANCL	CCBE1	TBX6	FRAS1	PTCH2	SC5D	TDGF1	DACT1	PHGDH	PTPN11	NOTCH3	HIRA	RECQL4	PALB2	GAS1	MEOX1	FREM2	MAD2L2	CEP290	PLEC	BMP2	FANCA	ALG3	STIL	BCL7B	MYH3	SMC1A	VANGL2	CCL2	FANCG	WNT7A	LFNG	HAAO	FLNA	CUL7	SETBP1	NODAL	PIK3CA	POLA1	NSUN2	TBXT	RAF1	CSPP1	ARID1B	DISP1	PORCN	SEC24C	METTL27	TBL2	CREBBP	NOTCH2NLC	FKTN	SNRPB	MASP1	MAFB	FANCI	CHN1	IGF2	MTRR	ATP6V1B2	RTL1	FANCM	ZIC1	POMT1	GMPPB	ELN	KIAA0586	TMEM270	BRIP1	KCNH1	RFC2	MTHFD1	PAX3	B3GALNT2	ZSWIM6	LIG4	SLX4	RIPPLY2	KIF22	ACTB	FKBP6	CDH1	STX1A	OFD1	COLEC11	FKRP	BAZ1B	MEG3	GDF3	RAB23	DLL4	BUD23	NEK9	RMRP	RAD51C	FANCE	DNAJC30	BMPER	JMJD1C	DLL3	FLI1	GTF2IRD2	GJA1	DARS1	SLC25A19	IRF6	VPS37D	UBE2T	LMX1B	CCNQ	LARGE1	IKBKG	SIN3A	RORA	TRIM36	MTR	POMGNT1	CHRNG	EP300	ALX4	B3GLCT	MTHFR	MAP3K7	DLK1	RFWD3	NF1	BRCA2	MSX2	XRCC2	WBP11	RREB1	GRIP1	CLIP2	KCNQ1OT1	GP1BB	GTF2IRD1	RBM8A	BRCA1	GLI3
HP_DECREASED_CIRCULATING_GABA_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_DECREASED_CIRCULATING_GABA_CONCENTRATION	MPO	NOS3	APP	HFE	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	BCKDHB	HMGCL	PCCA	PAH	DBT	BCKDHA	PCCB
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	CASP10	KRT18	SMAD4	IL1RN	KRT8	KRAS	APC	IL1B	MUTYH	IRF1	ERBB2	TP53	STK11	KLF6	PIK3CA	FGFR2
HP_PHYSICAL_URTICARIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PHYSICAL_URTICARIA	TNPO3	SLC27A4	SUPT16H	PLCG2	IL12RB1	IRF5	SPIB	TNFSF15	KIT	MMEL1	CARMIL2	POU2AF1	IL12A	SERPING1
HP_HIPPOCAMPAL_ATROPHY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HIPPOCAMPAL_ATROPHY	NEK1	BICRA	ABCA7	CAMTA1	RNU4ATAC	CPA6	GRM7
HP_HYPERKETONEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERKETONEMIA	GCDH	PHKA2	SLC37A4	PHKG2	COX6B1
HP_ABNORMAL_CIRCULATING_IGA_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_IGA_LEVEL	TNPO3	FASLG	MOGS	NLRP1	MVK	HLA-DQA1	WAS	FAS	STING1	REL	IL12RB1	ICOS	CARD11	CD3E	BLM	CCND1	MTOR	DCLRE1C	RAG2	IL2RG	PRKCD	CAVIN1	PIK3CD	CR2	RASGRP1	TNFRSF13B	KNSTRN	IL7R	CD19	CTLA4	TNFSF15	MMEL1	PSMB8	ADA	IPO8	CD40	PMM2	TCN2	PLCG2	IKBKG	HLA-DQB1	IGKC	PGM3	ALG12	AICDA	CSNK2A1	CARD10	CASP10	UNG	OTULIN	IRF5	SPIB	JAK3	TNFRSF13C	CD3D	CD40LG	IL2RA	NFKB2	BACH2	IL12A	IGHG2	CD247	DNMT3B	ITCH	IVNS1ABP	RNF168	TOM1	IRF2BP2	ATM	LRBA	ATP6AP1	POU2AF1	CASP8	PIGT	SYK	RAG1	TNFRSF11A
HP_ABNORMAL_CIRCULATING_IGE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_IGE_LEVEL	GPC3	FASLG	NSMCE3	TGFB1	STAT3	KRT74	CARD9	WAS	FAS	DOCK8	IL2RG	PRKCD	FOXP3	IL21	IL6ST	STAT5B	CDSN	RASGRP1	IRAK4	IL7R	MS4A2	ADA	IPO8	CD40	IL6R	IL4R	GPC4	TYK2	PGM3	SPINK5	CARD10	NCKAP1L	CD40LG	IL2RA	BACH2	CASP10	PLA2G7	KRT1	COL7A1	EXTL3	TOM1	ADAM17	CD247	KRT9
HP_ABNORMAL_CIRCULATING_IGG_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_IGG_LEVEL	EPG5	IFNGR1	FASLG	MOGS	TGFB1	STING1	REL	ICOS	ITK	RAG2	PIK3CD	PRKCD	IL21	FAS	RAG1	RASGRP1	CD19	VPS33A	CTLA4	RAC2	PSMB8	CD40	TCN2	IGKC	PGM3	ALG12	AICDA	CARD10	CASP10	UNG	JAK3	TNFRSF13C	CXCR4	NCKAP1L	CD3D	CD40LG	BACH2	XIAP	SON	IGHG2	BLM	CD247	RNF168	TOM1	IRF2BP2	ATM	MS4A1	ERCC2	ATP6AP1	CASP8	SH2D1A	SYK	SPINK5	CD81	IL2RG	NLRP1	CNBP	CTPS1	CD3E	CCND1	TPP2	DCLRE1C	SLC5A6	CR2	TONSL	KNSTRN	IL7R	ADA	IPO8	TNFRSF13B	PMM2	IL6R	IKBKG	SPPL2A	CSNK2A1	MGAT2	B2M	SP110	NFKB2	IVNS1ABP	EXTL3	LRBA	TNFRSF11A
HP_ABNORMAL_CIRCULATING_IGM_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_IGM_LEVEL	IFNGR1	TNPO3	FASLG	MOGS	NSMCE3	CNBP	WAS	FAS	IL12RB1	CARD11	BLM	TPP2	ICOS	RAG2	PIK3CD	IL2RG	GPR35	PRKCD	MST1	RASGRP1	KLHDC8B	KNSTRN	SEMA4D	VPS33A	CTLA4	TNFSF15	TCF4	RAC2	MMEL1	LAMTOR2	ADA	CD40	TCN2	IL6R	PLCG2	IKBKG	SPPL2A	IGKC	ALG12	CASP10	UNG	OTULIN	IRF5	SPIB	JAK3	CD19	TNFRSF13C	CD40LG	NFKB2	BACH2	IL12A	XIAP	IGHG2	DNMT3B	IVNS1ABP	RNF168	EXTL3	TOM1	IRF2BP2	MYD88	CD247	PGM3	LRBA	ATP6AP1	POU2AF1	CASP8	SH2D1A	PIGT	SYK	RAG1	TNFRSF11A
HP_CHRONIC_NEUTROPENIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_CHRONIC_NEUTROPENIA	DNAJC21	SRP54	CDC40	EFL1	LRBA	SBDS	SLC37A4	FIBP	PPIL1	CXCR2
HP_TRANSIENT_NEUTROPENIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_TRANSIENT_NEUTROPENIA	DNAJC21	SRP54	EFL1	CLPB	SBDS	IRAK4	FIBP
HP_BRAIN_IMAGING_ABNORMALITY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRAIN_IMAGING_ABNORMALITY	ERGIC1	APC2	MT-ND6	TREM2	HSD17B10	GATM	RAI1	PURA	TBCK	HMBS	GRN	DYRK1A	CDC42	COQ2	USP7	SLC6A1	SCO2	CHMP2B	SQOR	SURF1	VCP	CHD2	GRM7	PSAP	MT-TS2	KARS1	VPS33A	COG8	ACAT1	ALG1	AP2M1	BAP1	NIPA1	MT-TW	MTHFR	C9orf72	ALG12	SIM1	UBE3A	TUBG1	SUCLG1	MT-TH	NIPA2	SMARCE1	SIN3A	NF2	APOE	COX16	EIF2AK3	FOXP1	MAPT	CYP27A1	SNRPN	MT-CO1	TRAF7	SMO	CREBBP	MT-ND1	HPDL	MT-ND5	TREX1	DPAGT1	NSD1	AKT1	ADORA2A	NGLY1	DEAF1	PRNP	ABCD1	SDHAF1	CNP	PSEN1	TBL1XR1	BTD	NF1	TMEM106B	SH2B1	SETD2	SIN3B	EP300	SATB2	SLC6A8	SDHD	MT-TF	KMT2C	GALC	SYNGAP1	SLC2A1	ASPA	SMARCB1	SLC35A2	SCN1A	ATN1	SDHB	PDP1	WDR26	MT-CO3	ATP10A	MTRFR	SUFU	IARS1	NDUFS2	MT-CO2	POLR3A	NDUFB8	DNM1L	SPRED1	RERE	PSEN2	MT-TL1	SQSTM1	TERT	PDGFB	MT-ND4	CACNA1G	NDUFAF3	MAGEL2	EHMT1	ACP5	MT-TQ	NEXMIF	GAMT	PIK3CA
HP_PEDIATRIC_ONSET	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_PEDIATRIC_ONSET	RERE	KCNQ2	SLC6A3	MECP2	UMOD	DCC	TIMMDC1	PYROXD1	REL	FCGR2A	PRKAG2	BRAT1	SLC2A1	RIPK1	MACF1	POLA1	JAK3	DOCK7	FAR1	PMP22	DNAAF5	TCIRG1	L2HGDH	S1PR2	PLA2G6	COL6A2	PNP	PTCHD1	JAG1	PAK1	CD164	LRP5	ATP2B3	EXOSC5	SUCLA2	TTC26	NEFL	EMD	GTPBP2	SCN1A	CTSD	SCNN1A	SRCAP	TRAC	EBF3	SI	ACOX2	LAMA2	MARS1	ASAH1	DEF6	PRF1	TOGARAM1	ATP6V0A4	BLNK	ADK	GDAP1	CORO1A	PYGM	JPH1	MTR	SNX14	RYR1	RASGRP2	ABCD3	TH	STAT3	PCDH15	SLC46A1	SDHD	MED13L	SLC33A1	GJB2	COPB1	SCN4A	NCDN	FANCB	PLP1	CPLX1	COL6A3	SCN9A	LYST	NDUFAF1	KRT86	ITPA	MTRR	GJC2	NFKBIA	TMEM94	BRF1	GRID2	ZSWIM6	SYT1	CUX2	GNB1	GABRG2	TCTN2	TNNI3	CC2D1A	AIRE	ANGPT2	DYNC1I2	GATM	CADM3	EEF1A2	AUH	PRX	GCH1	PNPLA6	TMX2	IL37	GALNS	WT1	NDUFA13	MIPEP	DRC1	CCDC39	POMT1	WNK1	IL21	NR1H4	ALAS2	LIPT1	DNM2	VARS1	DHX30	ARFGEF2	FARSB	CACNB4	NUP214	TGFB1	PTS	COL1A1	CD79B	DPAGT1	COL1A2	SLC6A5	RUSC2	REST	ATP8B1	SCN2A	PLCG2	TGFBI	CALM1	PNKD	SH3BP2	ABCB11	PCDH12	SPATA5L1	DMD	CLCN1	TNPO3	ATP6AP1	ACTL6B	ADCY5	PHIP	TLK2	NLRP1	SIL1	CNP	SCNN1G	EMC10	RETREG1	DBR1	FOXRED1	TUBGCP2	RCBTB1	NLRP12	VWA1	MPZ	MTHFR	CEP104	PIGT	PIK3R1	CPT2	TNR	EIF2AK3	GON7	LGI1	TRAPPC9	SCNN1B	RPSA	NTRK1	PGAP1	TECRL	ZNFX1	GPHN	ITGA7	HNF1A	ATP6AP2	SMPD1	TREX1	HPDL	IKBKB	F2	ADA2	KCNA1	MVK	SGCA	CAV1	AMBN	PIGK	CASK	TNFRSF11A	SAMD9	YRDC	RINT1	YIF1B	SUPT16H	TPM2	ERCC4	LITAF	KDM4B	ERCC6	TBX21	TBR1	BCAS3	TTI2	TRIT1	MYH9	QDPR	PET117	HERC2	SLC19A3	KCNT2	POLG	NLRP3	MMADHC	HGD	DLAT	NKX2-1	RPL35A	CHRNE	LRP12	GFI1B	ZMIZ1	CRB1	FGF13	TRMT1	PLCE1	SUCLG1	HIKESHI	SDHA	CTNS	GALNT3	PCK1	HCN4	PSMG2	CXCR4	ILDR1	GPAA1	OCRL	CUBN	ABCA4	PROM1	TNPO2	FKTN	NEXMIF	NDUFA10	MYO5A	AQP5	VDR	EDEM3	CARD11	DDX3X	PARN	SGCB	AASS	AP3B2	EGR2	GABRB1	ADNP	EIF2B2	ARG1	TACSTD2	PSAT1	SDHAF1	RYR2	KLHL7	SLC25A26	CFI	TJP2	UPB1	TPP2	SPTAN1	PITRM1	IREB2	NUP107	COLQ	GP6	LIPA	TBX19	KRT83	AOPEP	PIGS	MEFV	LMNB2	DDC	SASH1	MTFMT	NPHS2	GAN	TK2	SGCE	NLGN3	NDUFS1	DCDC2	SYNE1	GLRB	HIVEP2	KCNA2	AIFM1	EXT2	CHRNA1	TRDN	CD247	TBC1D24	CFH	CPA6	GABRA1	UVSSA	TBC1D2B	ALS2	GAD1	NEB	CYB5A	KMT2E	ITK	PANK4	APC2	VPS16	HCN2	MRPS25	HSD17B10	GATAD2B	GRIK2	MAGT1	LCA5	NMNAT1	ACSL4	NOTCH2NLC	NDUFV2	LMX1B	SPEG	EIF2AK4	BCL10	EXT1	NOS1AP	OTULIN	ASXL2	ALG13	RFT1	WDR45B	TCF3	NCF2	CD59	FAM126A	TBL1X	DCX	BCORL1	CHD1	SLC25A12	EDC3	VAMP1	TXN2	NCF1	PRKG2	SLC25A38	BSCL2	NDUFS2	COL12A1	YWHAG	PNPLA8	RTN4IP1	IDH3A	PSPH	RPGRIP1L	FCHO1	PAX2	COX20	GEMIN4	LMNA	C12orf57	NDUFAF8	IL36RN	PINK1	CHRNA4	ADSL	SOCS1	NDUFA8	ZMYM2	FCGR3A	SPG11	AAAS	GFAP	SON	EARS2	CCDC115	KCNMA1	EIF2B3	DAG1	ISCU	SOST	PERP	MPV17	COX4I2	ADGRV1	MID2	UNC45B	RAB27A	KIF12	CD4	SPART	TSC1	WDR81	SLC12A5	CHD3	YIPF5	LCK	ACADSB	PRNP	POLR3K	PDHA1	CWF19L1	AMTN	TPP1	DIAPH1	COL6A1	HAX1	FRMPD4	ITPR1	KIDINS220	G6PD	RAG1	TBCD	NFE2L2	NUP133	LMNB1	TIE1	COPA	WARS1	PRPS1	CFB	CASQ2	GATA1	ATAD3A	COX5A	SACS	MMP2	HPCA	ATP7A	LMAN2L	HSCB	HYDIN	RANBP2	ERBB2	MLC1	ATP13A2	GPR101	NLRC4	ATG7	CSTB	TNFRSF4	MS4A1	SNRPN	SBF2	AGK	MFN2	DAAM2	LRPPRC	NAGLU	CASR	SPTBN2	COX6A2	MTOR	AIMP2	ARV1	GRIN1	POMK	TLCD3B	STX11	APTX	ACADVL	WDR73	TRAPPC2L	KIF1A	TRNT1	CD3D	IKZF1	RUBCN	CCT5	ELANE	UQCC2	IFT140	DOK7	PCDH19	CYP3A4	FLG	VPS53	ABCB4	IQSEC2	HABP2	HNMT	DDOST	NDUFB8	MAGEL2	FGD4	SVIL	RPS29	PRMT7	MFF	PDE2A	PIGP	EIF2B1	EIF2B4	HEXB	TACO1	MRPL3	HADHB	COG2	KRT81	PLG	DNAAF4	SLC41A1	GNB2	NDUFB9	MUSK	CLPX	TMEM251	TUBB6	ARL3	ASH1L	KCNH1	MICOS13	IMPDH1	TMTC3	NLGN4X	EIF2B5	CYBB	FERMT3	PRDX1	TTN	GRM1	ISCA1	CASP10	CLDN11	FBN1	KCTD7	NCKAP1L	FRMD7	RPS19	TIMM8A	CEP78	MFSD8	ADD3	CYP2R1	ALG11	GFPT1	CTDP1	KCNJ10	CFTR	PTPRQ	CYP1B1	DPM3	SLC39A4	PAPPA2	SLC34A3	HNRNPH2	SLC19A1	VPS41	MMAA	IL2RG	ZAP70	RDX	WAC	HEXA	FMN2	RPL3L	PRKN	ZNF462	ROR1	NARS1	USP53	FLNA	ACOX1	SYNE2	NBAS	UBE2A	TUFM	GABRB3	RNASET2	TGM3	GNAS	NKX6-2	PRKDC	GJB3	BCS1L	AGO2	AKT1	CBLIF	NBEA	FZD4	MYH7	AMMECR1	C2orf69	CAD	TMEM67	TNFAIP3	POMC	GPD1	ADAM22	CDKL5	PGAP3	TRPM6	FRG1	TET2	PLEKHM1	ALG14	SEPSECS	RNASEH2A	BOLA3	HEPACAM	PNPT1	PUS3	LARGE1	LIMS2	CLCN7	HADHA	PSMB8	DOCK8	SLC51A	SLC7A6OS	KIRREL1	CARD10	CARD14	CD3E	KCNB1	DLG4	TPM3	PDE10A	SLC35A1	CLIC5	PIK3CD	CUL3	PHOX2B	NEMF	LAMA3	ZNF142	KDM5B	HUWE1	TMPRSS3	VPS33A	SLC6A6	FOXP1	ADGRG1	DDB1	NDUFV1	MRPS2	WDR26	CHRND	SARS2	MCOLN1	IGLL1	LACC1	DYNC1H1	PDP1	SPTLC2	LDHA	PMPCA	SLC5A6	GAL	GEMIN5	MAST1	CTNNB1	PLEKHG5	XPC	CTC1	MYMK	DHPS	ADAT3	RPS26	EPO	GUSB	PHKG2	IL6R	MIA3	SLC7A7	IGHM	SELENON	NAGA	KIF3B	FXN	UPF3B	SLC4A11	MRPL44	FECH	ZNF407	DPM1	VPS37A	HNRNPU	SLC37A4	GLB1	NFKB2	TMEM240	SLC12A3	MICAL1	PEPD	PANK2	COL9A1	VAMP2	CARMIL2	NDRG1	GIMAP5	SPR	EXOC2	CYBA	SMPX	MCM6	DSC3	ACO2	PI4KA	UFSP2	TSC2	CHST6	ICOS	SPECC1L	HCFC1	STXBP2	LMBRD1	CAVIN1	PPP2CA	PLEKHG2	SAR1B	VPS45	ACP5	MMACHC	PET100	GUCY2D	CHD2	ERCC8	CLCN3	SLURP1	NDUFAF6	SRD5A3	CELF2	GLA	NDUFS4	SCN3A	TSHR	TRPV4	OPHN1	TRPA1	PDCD10	PSAP	SLC18A2	IMPG2	KDELR2	BAAT	TOM1	NGF	P4HTM	NGLY1	RELN	RAG2	GARS1	SLCO2A1	NR3C2	CLDN16	DARS1	MTX2	FLVCR1	RORC	SNAP29	YME1L1	SLC6A8	IL21R	NPC1	KITLG	CACNA2D2	BANF1	RPS28	SETD1A	CA12	POMT2	GLRA1	ABCB7	F13A1	VARS2	MARCHF6	TBCE	AP1S2	JAG2	NUS1	ZNF711	COQ6	ALDH5A1	CD19	GRIN2D	NEUROD2	AFG3L2	COX10	COL9A2	COA8	DEAF1	HIBCH	NDUFC2	ATPAF2	SLC52A3	METTL23	ADAR	MRPS7	NARS2	MIEF2	DDHD1	TRIOBP
HP_ABNORMAL_CIRCULATING_AMYLASE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_AMYLASE_LEVEL	DNAJC21	NFS1	SRP54	EFL1	CNOT1	SBDS
HP_HYPOAMYLASEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPOAMYLASEMIA	DNAJC21	SRP54	EFL1	CNOT1	SBDS
HP_NEGATIVISM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_NEGATIVISM	COMT	SYN2	CHI3L1	APOL4	DRD3	HTR2A	APOL2	DAOA	MTHFR	RTN4R
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	CD70	CD81	RIPK1	ALG12	CD247	CTPS1	REL
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	CD19	TNFRSF13C	HYOU1	CASP8	TNFRSF13B	ICOS	CARD11	CR2
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	CD19	TNFRSF13C	TNFRSF13B	ICOS	CR2
HP_HYPERPLASIA_OF_THE_MAXILLA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERPLASIA_OF_THE_MAXILLA	WDR26	AP2M1	HBB	SOX5	ZBTB11
HP_MOON_FACIES	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_MOON_FACIES	PRKACA	PRKAR1A	CDH23	PDE11A	XYLT1	PDE8B	ARMC5	USP8	GNAS
HP_ABNORMAL_CARDIAC_TEST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CARDIAC_TEST	GPC3	NOS1AP	GABRA3	CDC73	SCN5A	ABCC9	SRY	PRKAG2	KCNJ5	CDKN2B	SCN1B	TBX20	SCN4B	PHOX2B	RRM2B	SLC4A3	NPPA	KCNQ1	TBX5	CAVIN1	MT-CYB	JUP	DYSF	CALM1	BPTF	SEMA3A	AKAP9	MECP2	DCAF17	GNB5	KCNJ2	PPCS	CDKN1A	CACNA1S	TRDN	SCN10A	NKX2-5	CACNA2D1	PKP2	GPD1L	TTN	TWNK	GYG1	KCND3	CDKN1B	CITED2	ANK2	DNAJC19	HCN4	NEU1	GMPPB	SCN2B	KCNE2	CALM3	KCNH2	CLCNKB	POLG	ACADVL	LAMA2	DMD	TRPM4	KCNE1	DPAGT1	MYH6	ACTC1	TMEM43	GAA	TTR	SLC12A3	CACNB2	KCNA5	GNAS	ATP1A2	CALM2	ALG10B	CACNA1C	MEN1	GATA6	B2M	SCN3B	SNTA1	KCNE3	COA6	MYL3	KCNJ18	ATP1A3	FBN1	RYR1	SCNN1A	DBH	TNNC1	CACNA1A	TANGO2	KCNE5	SLC1A3	RPL3L	SLMAP	ALPK3	GPC4	SLC25A4	FXN	GATA4	TECRL	MYL2	PSMD12	POLG2	TNNI3K	GTPBP3	TLL1	CAV3	STX16	CDKN2C	RANGRF	BRF1	FHOD3	KCNJ8	SVIL	HADH
HP_ABNORMAL_CARDIAC_EXERCISE_STRESS_TEST	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CARDIAC_EXERCISE_STRESS_TEST	SCN5A	TBX5	NOS1AP	KCNE2	SCN4B	CALM1	ANK2	SCN10A	KCNJ5	KCNE1	CACNA1C	CALM2	CALM3	TRDN	KCNH2	CAV3	SNTA1	KCNQ1	AKAP9
HP_ABNORMAL_CIRCULATING_DEHYDROEPIANDROSTERONE_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CIRCULATING_DEHYDROEPIANDROSTERONE_CONCENTRATION	TP53	MRAP	STAR	MC2R	HSD3B2	CYP17A1	TXNRD2	NNT
HP_FOOD_ALLERGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_FOOD_ALLERGY	IGKC	SLC27A4	RBM8A	SOX6	IGHG2	PGM3	FOXP3	SPTBN1	JAK1	IL6ST	SPINK5
HP_ABNORMAL_BLOOD_CARBON_DIOXIDE_LEVEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_BLOOD_CARBON_DIOXIDE_LEVEL	RYR1	SELENON	TPM2	TPM3	ITGA7	HACD1	PHOX2B	ACTA1	MYL2	CACNA1S	MAP3K20	LRP12
HP_HYPERGASTRINEMIA	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_HYPERGASTRINEMIA	CDKN2B	CDKN1B	MCOLN1	CDKN2C	CDKN1A	MEN1
HP_ABNORMAL_CSF_CARBOXYLIC_ACID_CONCENTRATION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_CSF_CARBOXYLIC_ACID_CONCENTRATION	PET117	PDHA1	LONP1	ALDH5A1	PDHX	AASS	DLAT	NDUFA4	GLYCTK	GLUL
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	PET117	PDHA1	LONP1	PDHX	DLAT	NDUFA4
HP_ABNORMAL_MANDIBULAR_RAMUS_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_MANDIBULAR_RAMUS_MORPHOLOGY	PLCB4	GNAI3	HMX1	EDN1	NFIX	KCNJ2
HP_ABNORMALITY_OF_FRONTALIS_MUSCLE_BELLY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_FRONTALIS_MUSCLE_BELLY	SLC18A3	VAMP1	CHAT	SLC25A1	SNAP25	SYT2	MYO9A	AGRN	SLC5A7	COL13A1
HP_ABNORMALITY_OF_CARTILAGE_OF_EXTERNAL_EAR	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_CARTILAGE_OF_EXTERNAL_EAR	MGP	ABCC6	HS2ST1	TCTN3	ZBTB20	EDN1	FGFR2	GNAI3	TWIST1	FGFR3	ENPP1	PLCB4	ZNF462	STEEP1
HP_ABNORMALITY_OF_HEAD_BLOOD_VESSEL	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMALITY_OF_HEAD_BLOOD_VESSEL	ABCG8	LRP5	NDE1	MT-ND4L	MLXIPL	HEXB	GTF2IRD2	FZD4	COMT	SELENOI	HOXA1	DARS1	CTSA	COL4A1	HIRA	MT-ND6	VPS37D	SMPD1	LDLR	MT-ND5	MT-ND1	ELN	ASAH1	BCL7B	TMEM270	GTF2I	TBX1	GALC	ABCC6	NCF1	RFC2	MYOC	F12	MT-ATP6	LIMK1	PSAP	GLB1	DNAJC30	EIF4H	HEXA	CYP1B1	APOB	POLR3A	TMEM231	MT-ND4	NF1	LDLRAP1	PRPF3	GM2A	FKBP6	LMX1B	STX1A	PCSK9	IGFBP7	BAZ1B	ANTXR1	NEU1	ARVCF	SEC24C	PTDSS1	RREB1	METTL27	TBL2	CLIP2	MT-CO3	GP1BB	TULP1	BEST1	BUD23	UFD1	GTF2IRD1	NEK1	ENPP1	MT-ND2	ABCG5	JMJD1C	NDP	MT-CYB
HP_ABNORMAL_ODONTOID_TISSUE_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_ODONTOID_TISSUE_MORPHOLOGY	PEX1	PLEC	MLXIPL	OFD1	COMT	TBCE	KRT14	RAD21	DSPP	ATR	IFT122	ODAPH	AMTN	DLX3	FLNB	AXIN2	GTF2I	APC	NCF1	CTSK	CLEC7A	CEP152	LAMA3	KRT5	LIMK1	GLB1	EIF4H	FAM20A	KLK4	RUNX2	POLR1C	TGFA	SLC24A4	LAMC2	ERCC3	HCCS	TBX1	MPLKIP	LAMB3	GNAS	LIFR	DDX59	WNT10A	MMP1	GALNT3	COL17A1	ZNF469	FGF10	WNT10B	IL17RC	ARVCF	GRHL2	GTF2E2	TSC1	SCUBE3	NECTIN1	GPR68	IL17F	FGFR3	CNNM4	VDR	UFD1	SLC29A3	SEC24D	MYO7A	COL1A1	ADGRV1	ITGB6	CENPE	ITGA6	ERCC1	NUP133	FAM83H	SLC35A2	ENAM	HLA-DQA1	HIRA	POLR1D	SLC10A7	BCL7B	TP63	TTC7A	OCRL	NF1	PIK3C2A	FGFR2	FAM20C	MIA3	AMELX	GJA1	MSX1	GTF2H5	COG6	PDE4D	TARS1	SLC13A5	TMEM165	IFITM5	ITGB4	GNB2	WDR35	TCIRG1	WDR19	OBSL1	PORCN	SEC24C	USH2A	METTL27	TBL2	ERCC4	ERCC2	CLDN19	COL1A2	CREBBP	TRAF3IP2	STIM1	TRIM37	RBBP8	AKT1	IFT43	COL7A1	AIRE	CENPJ	DHCR7	B3GALT6	CUL7	LONP1	CLDN1	GALNS	CYP27B1	IRF6	FGFR1	ELN	NUP85	TMEM270	FERMT1	IL17RA	EDARADD	NECTIN4	ERCC8	RFC2	WHRN	CYP2R1	FKBP10	SMARCD2	ATRIP	TRIP11	RECQL4	FKBP6	STX1A	DNAJC21	ACP4	LRP6	BAZ1B	ORAI1	ROGDI	PAX9	RNF113A	PHEX	POLR1B	BUD23	ANAPC1	PLK4	P4HB	DNAJC30	MBTPS2	USH1C	ELMO2	TCOF1	PCNT	JMJD1C	ALDH3A2	TNFRSF11A	GTF2IRD2	SMOC2	PPIB	CIB2	RHOA	VPS37D	HRAS	FGF3	PTDSS1	RELT	IKBKG	IFT52	PIK3R1	CCDC8	SMARCA2	PTEN	MMP20	USH1G	CDH23	HLA-DQB1	PEX6	TRAIP	EP300	PGAP1	COX7B	LMX1B	ESPN	SATB1	WDR72	ERCC6	PCDH15	NDUFB11	EDA	RREB1	STX16	CLIP2	GP1BB	GTF2IRD1	LTBP3	PDZD7	LRP4	AMBN	SUMO1	SERPINH1	KCNJ2
HP_ABNORMAL_INTERNAL_CAROTID_ARTERY_MORPHOLOGY	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_INTERNAL_CAROTID_ARTERY_MORPHOLOGY	LDLRAP1	PCSK9	ABCG8	NDE1	LMX1B	APOB	HOXA1	LDLR	ABCG5	NF1
HP_BRONCHOCONSTRICTION	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_BRONCHOCONSTRICTION	PLA2G7	IL13	ALOX5	CCL11	TBX21	PTGER2	HLA-G	MUC7	SCGB3A2	ADRB2	HNMT	TNF
HP_EXANTHEM	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_EXANTHEM	STX11	RUNX1	ZNFX1	TET2	MVK	BTNL2	SRSF2	CBL	TNFRSF1A	UNC13D	NLRP3	HLA-DRB1	ASXL1	ANK1	EPB42	SLC4A1	KIT	PRF1	STXBP2	SPTB	SPTA1
HP_ABNORMAL_LUNG_DEVELOPMENT	http://www.gsea-msigdb.org/gsea/msigdb/human/geneset/HP_ABNORMAL_LUNG_DEVELOPMENT	HYDIN	PIGG	LMOD3	DYNC2I1	ZMYND10	COMT	DONSON	DRC1	CCDC40	PLXND1	ETFDH	GPC3	ATP5F1A	MCTP2	FGFR3	CEP120	HSPG2	DNAAF2	TTC12	DGCR6	IFT140	NELFA	GREB1L	DZIP1L	AGT	CFAP298	TBX1	PUF60	GPC4	INTU	RBM10	LIFR	PIGN	LETM1	ODAD4	RAPSN	LRRC56	GAS8	ZMPSTE24	GLE1	CHRNG	RSPH1	DNAAF3	CC2D2A	TRIP4	NDUFB10	COL2A1	NSD2	EVC2	ARVCF	LMNA	FANCB	OFD1	GLI1	HOXD13	UFD1	SLC26A2	FRAS1	DPAGT1	SPEF2	DNAH1	RET	PIGT	PHGDH	SLC25A24	GDF1	VANGL1	DNAI1	RSPH3	HIRA	MCIDAS	MYRF	RARB	CPLX1	FREM2	BUB1B	RYR1	ALG3	HYLS1	MYH3	CFAP300	CHUK	MYOD1	KIAA0586	RSPH9	DYNC2LI1	FAM20C	ITGA8	CDC45	PTH1R	WNT4	GLDN	DNAAF1	FLNA	MYH11	FLNB	SETBP1	GPKOW	IFT81	ODAD3	TMEM94	EVC	NAA10	DNAJB13	MKS1	MUSK	SEC24C	BUB3	DHCR7	TRIP11	BCOR	CSPP1	CEP57	NPHP3	NSDHL	WNT3	LTBP4	AKT1	WT1	ESS2	DNAAF6	PKHD1	RTL1	B3GALT6	KAT6B	CHRM3	REN	DNAH5	GLI3	TTC21B	LONP1	SPECC1L	STK36	RSPO2	KLHL41	DNAAF11	SPAG1	ODAD1	DNAL1	FOXF1	NEK9	CCDC39	CCNO	FGF20	NODAL	IFT172	DYNC2I2	FOXJ1	DNAAF4	INVS	DOK7	DNAAF5	RPGR	RSPH4A	ADGRG6	DYNC2H1	TRPV4	MEG3	DNAH9	CCDC65	ACTA1	ETFB	DGCR2	SON	SMO	EMG1	TCTN3	CTBP1	MKKS	LBR	SLC18A3	AGTR1	DNAI2	GRIP1	CHRND	PIEZO2	JMJD1C	NEB	LGI4	ZFPM2	ASCC1	FLCN	NKX2-6	TAPT1	GAS2L2	STRA6	CCDC103	WNT9B	NUP88	GBA	PEX1	AARS2	BUB1	ALG9	PTEN	ODAD2	COQ7	BMPER	FUZ	TRIP13	NEK10	KLHL40	RLIM	DLK1	IFT80	GATA6	ACE	DGCR8	CHRNA1	NEK1	WDR19	RREB1	DNAH11	ETFA	NEK8	WDR35	GP1BB	NME8	CEP55	PORCN	CFAP221