Nervous system development

Pathway network for the Nervous system development SuperPath

Sources:

Reactome

Pathways in the Nervous system development SuperPath

#	Name	Source	Genes
1	Nervous system development	Reactome	ABL1 ABL2 ABLIM1 ABLIM2 ABLIM3 ACTB ACTG1 ACTR2 ACTR3 ADAM10 ADGRG6 ADGRV1 ADRM1 AGAP2 AGRN AKAP5 ALCAM ANK1 ANK2 ANK3 AP2A1 AP2A2 AP2B1 AP2M1 AP2S1 APH1A APH1B ARHGAP35 ARHGAP39 ARHGEF11 ARHGEF12 ARHGEF28 ARHGEF7 ARPC1A ARPC1B ARPC2 ARPC3 ARPC4 ARPC5 ARTN BUB1B-PAK6 CACNA1C CACNA1D CACNA1G CACNA1H CACNA1I CACNA1S CACNB1 CACNB2 CACNB3 CACNB4 CAP1 CAP2 CASC3 CD24 CD72 CDC42 CDK5 CDK5R1 CFL1 CHL1 CLASP1 CLASP2 CLTA CLTB CLTC CLTCL1 CNTN1 CNTN2 CNTN6 CNTNAP1 COL2A1 COL3A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL5A1 COL5A2 COL5A3 COL6A1 COL6A2 COL6A3 COL6A5 COL6A6 COL9A1 COL9A2 COL9A3 CREB1 CRMP1 CSNK2A1 CSNK2A2 CSNK2B CUL2 CXCL12 CXCR4 CYP51A1 DAB1 DAG1 DCX DLG1 DLG3 DLG4 DNM1 DNM2 DNM3 DOCK1 DOK1 DOK2 DOK4 DOK5 DOK6 DPYSL2 DPYSL3 DPYSL4 DPYSL5 DRP2 DSCAM DSCAML1 EFNA1 EFNA2 EFNA3 EFNA4 EFNA5 EFNB1 EFNB2 EFNB3 EGFR EGR2 EIF4A3 EIF4G1 ELOB ELOC ENAH EPHA1 EPHA10 EPHA2 EPHA3 EPHA4 EPHA5 EPHA6 EPHA7 EPHA8 EPHB1 EPHB2 EPHB3 EPHB4 EPHB6 ERBB2 ETF1 EVL EZR FARP2 FAU FES FGFR1 FLRT3 FRS2 FYN GAB1 GAB2 GAP43 GDNF GFRA1 GFRA2 GFRA3 GFRA4 GIT1 GPC1 GRB10 GRB2 GRB7 GRIN1 GRIN2B GSK3B GSPT1 GSPT2 HDAC2 HJV HMGCR HOXA2 HRAS HSP90AA1 HSP90AB1 HSPA8 IRS2 ISL1 ITGA1 ITGA10 ITGA2 ITGA2B ITGA5 ITGA9 ITGAV ITGB1 ITGB3 ITSN1 KALRN KCNQ2 KCNQ3 KIF4A KIF4B KRAS L1CAM LAMA1 LAMA2 LAMB1 LAMC1 LDB1 LHX2 LHX3 LHX4 LHX9 LIMK1 LIMK2 LYN LYPLA2 MAG MAGOH MAGOHB MAP2K1 MAP2K2 MAPK1 MAPK3 MAPK7 MBP MET MMP2 MMP9 MPZ MSI1 MSN MYH10 MYH11 MYH14 MYH9 MYL12A MYL12B MYL6 MYL9 MYO10 MYO9B NAB1 NAB2 NCAM1 NCAN NCBP1 NCBP2 NCK1 NCK2 NCSTN NELL2 NEO1 NFASC NGEF NRAS NRCAM NRP1 NRP2 NRTN NTN1 NTN4 NUMB PABPC1 PAK1 PAK2 PAK3 PAK4 PAK5 PAK6 PDLIM7 PFN1 PFN2 PIK3CA PIK3CB PIK3CD PIK3R1 PIK3R2 PIK3R3 PIP5K1C PITPNA PLCG1 PLXNA1 PLXNA2 PLXNA3 PLXNA4 PLXNB1 PLXNB3 PLXNC1 PLXND1 PMP22 POU3F1 POU3F2 PPP3CB PRKACA PRKACB PRKACG PRKAR2A PRKCA PRNP PRX PSEN1 PSEN2 PSENEN PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 PSPN PTK2 PTPN11 PTPRA PTPRC RAC1 RANBP9 RAP1GAP RASA1 RBM8A RBX1 RDX RELN RET RGMA RGMB RHOA RHOB RHOC RND1 RNPS1 ROBO1 ROBO2 ROBO3 ROCK1 ROCK2 RPL10 RPL10A RPL10L RPL11 RPL12 RPL13 RPL13A RPL14 RPL15 RPL17 RPL18 RPL18A RPL19 RPL21 RPL22 RPL22L1 RPL23 RPL23A RPL24 RPL26 RPL26L1 RPL27 RPL27A RPL28 RPL29 RPL3 RPL30 RPL31 RPL32 RPL34 RPL35 RPL35A RPL36 RPL36A RPL36AL RPL37 RPL37A RPL38 RPL39 RPL39L RPL3L RPL4 RPL41 RPL5 RPL6 RPL7 RPL7A RPL8 RPL9 RPLP0 RPLP1 RPLP2 RPS10 RPS11 RPS12 RPS13 RPS14 RPS15 RPS15A RPS16 RPS17 RPS18 RPS19 RPS2 RPS20 RPS21 RPS23 RPS24 RPS25 RPS26 RPS27 RPS27A RPS27L RPS28 RPS29 RPS3 RPS3A RPS4X RPS4Y1 RPS4Y2 RPS5 RPS6 RPS6KA1 RPS6KA2 RPS6KA3 RPS6KA4 RPS6KA5 RPS6KA6 RPS7 RPS8 RPS9 RPSA RRAS SCD5 SCN10A SCN11A SCN1A SCN1B SCN2A SCN2B SCN3A SCN3B SCN4A SCN4B SCN5A SCN7A SCN8A SCN9A SDC2 SEM1 SEMA3A SEMA3E SEMA4A SEMA4D SEMA5A SEMA6A SEMA6D SEMA7A SH3GL2 SH3KBP1 SHC1 SHC3 SHTN1 SIAH1 SIAH2 SLIT1 SLIT2 SLIT3 SMARCA4 SOS1 SOS2 SOX10 SPTA1 SPTAN1 SPTB SPTBN1 SPTBN2 SPTBN4 SPTBN5 SRC SREBF2 SRGAP1 SRGAP2 SRGAP3 ST8SIA2 ST8SIA4 TEAD1 TIAM1 TLN1 TREM2 TRIO TRPC1 TRPC3 TRPC4 TRPC5 TRPC6 TRPC7 TUBA1A TUBA1B TUBA1C TUBA3C TUBA3D TUBA3E TUBA4A TUBA4B TUBA8 TUBAL3 TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB8 TUBB8B TYROBP UBA52 UBB UBC UNC5A UNC5B UNC5C UNC5D UPF2 UPF3A UPF3B USP33 UTRN VASP VAV2 VAV3 VLDLR WASL WWTR1 YAP1 YES1 ZSWIM8 (see all 559) (see less)
2	Developmental Biology	Reactome	ABCG2 ABL1 ABL2 ABLIM1 ABLIM2 ABLIM3 ACTA2 ACTB ACTG1 ACTL6A ACTR2 ACTR3 ACVR1B ACVR1C ACVR2A ACVR2B ADAM10 ADAM11 ADAM22 ADAM23 ADGRG6 ADGRV1 ADIPOQ ADIRF ADRM1 AGAP2 AGO1 AGO2 AGO3 AGO4 AGRN AICDA AIMP1 AIMP2 AJUBA AKAP5 AKT1 AKT2 AKT3 ALCAM ALDH1A1 ALDH1A3 ALX3 AMH AMY2A ANGPTL4 ANK1 ANK2 ANK3 ANXA1 ANXA2 ANXA3 AP2A1 AP2A2 AP2B1 AP2M1 AP2S1 APH1A APH1B AQP1 AQP3 AQP8 AREG ARHGAP35 ARHGAP39 ARHGEF11 ARHGEF12 ARHGEF28 ARHGEF7 ARID1A ARID1B ARPC1A ARPC1B ARPC2 ARPC3 ARPC4 ARPC5 ARTN ASAH1 ASH2L ATP6V0B ATP6V0C ATP6V0D1 ATP6V0E1 ATP6V1A ATP6V1B2 ATP6V1C1 ATP6V1E1 ATP6V1G1 ATP6V1H BCL2 BCL2A1 BCL7A BCL7B BCL7C BHLHA15 BIRC7 BMP4 BMP7 BNIP2 BOC BORCS8-MEF2B BRCA1 BTG4 BUB1B-PAK6 CA2 CACNA1C CACNA1D CACNA1G CACNA1H CACNA1I CACNA1S CACNB1 CACNB2 CACNB3 CACNB4 CACNG2 CACNG3 CACNG4 CACNG8 CALML5 CAP1 CAP2 CAPN1 CAPNS1 CARM1 CASC3 CASP14 CBFB CCNB1 CCNC CCND1 CCND3 CD24 CD36 CD44 CD72 CD74 CDC25B CDC42 CDH15 CDH2 CDH4 CDK19 CDK2 CDK4 CDK5 CDK5R1 CDK8 CDKN1A CDKN2A CDON CDSN CEACAM1 CEBPA CEBPB CEBPD CEBPE CEL CELA2A CELA3B CER1 CFC1 CFL1 CFTR CHD3 CHD4 CHD9 CHL1 CIDEA CLASP1 CLASP2 CLDN10 CLTA CLTB CLTC CLTCL1 CNN1 CNOT1 CNOT10 CNOT11 CNOT2 CNOT3 CNOT4 CNOT6 CNOT6L CNOT7 CNOT8 CNOT9 CNTN1 CNTN2 CNTN6 CNTNAP1 COL11A1 COL11A2 COL1A1 COL1A2 COL24A1 COL27A1 COL2A1 COL3A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL5A1 COL5A2 COL5A3 COL6A1 COL6A2 COL6A3 COL6A5 COL6A6 COL9A1 COL9A2 COL9A3 COX7A1 CPA1 CPA2 CPB1 CREB1 CREBBP CRIPTO CRIPTO3 CRMP1 CSF1 CSF3R CSNK2A1 CSNK2A2 CSNK2B CSPG4 CSTA CTCF CTNNA1 CTNNA2 CTNNB1 CTRC CTRL CUL2 CXCL12 CXCR4 CYP51A1 DAB1 DAG1 DAND5 DARS1 DCT DCX DEK DHH DIAPH1 DICER1 DIO2 DIS3L2 DLG1 DLG3 DLG4 DLL1 DLL3 DLX5 DMKN DMRT1 DNM1 DNM2 DNM3 DOCK1 DOK1 DOK2 DOK4 DOK5 DOK6 DPF1 DPF2 DPF3 DPPA2 DPPA3 DPPA4 DPY30 DPYSL2 DPYSL3 DPYSL4 DPYSL5 DRAP1 DRP2 DSC1 DSC2 DSC3 DSCAM DSCAML1 DSG3 DSG4 DUX4 DUXA DUXB E2F1 EBF1 EBF2 EDIL3 EDN1 EDN3 EDNRB EED EEF1E1 EFNA1 EFNA2 EFNA3 EFNA4 EFNA5 EFNB1 EFNB2 EFNB3 EGF EGFR EGR2 EIF4A1 EIF4A2 EIF4A3 EIF4B EIF4E EIF4G1 ELOB ELOC ELOVL3 EMX2 ENAH EOMES EP300 EPAS1 EPCAM EPHA1 EPHA10 EPHA2 EPHA3 EPHA4 EPHA5 EPHA6 EPHA7 EPHA8 EPHB1 EPHB2 EPHB3 EPHB4 EPHB6 EPRS1 ERBB2 ERICH5 ETF1 EVL EVPL EYA1 EZH2 EZR FABP4 FABP5 FAM120B FARP2 FAU FES FGF10 FGF2 FGF4 FGF7 FGF8 FGF9 FGFR1 FLG FLI1 FLRT3 FN1 FOXA1 FOXA2 FOXA3 FOXC1 FOXC2 FOXD3 FOXF1 FOXH1 FOXO1 FOXO3 FOXO4 FOXP1 FRS2 FURIN FYN GAB1 GAB2 GAP43 GATA2 GATA3 GATA4 GATA6 GATAD2A GATAD2B GBX2 GCK GDF1 GDNF GFI1 GFRA1 GFRA2 GFRA3 GFRA4 GIT1 GJB3 GMPR GNMT GP2 GPC1 GPR143 GRB10 GRB2 GRB7 GREM1 GRIN1 GRIN2B GSC GSK3B GSPT1 GSPT2 GXYLT2 H1-8 H2AB1 H2AC14 H2AC18 H2AC19 H2AC20 H2AC4 H2AC6 H2AC7 H2AC8 H2AJ H2AX H2AZ2 H2BC1 H2BC10 H2BC11 H2BC12 H2BC12L H2BC13 H2BC14 H2BC15 H2BC17 H2BC21 H2BC26 H2BC3 H2BC4 H2BC5 H2BC6 H2BC7 H2BC8 H2BC9 H3-3A H3-3B H3C1 H3C10 H3C11 H3C12 H3C13 H3C14 H3C15 H3C2 H3C3 H3C4 H3C6 H3C7 H3C8 H4C1 H4C11 H4C12 H4C13 H4C14 H4C15 H4C16 H4C2 H4C3 H4C4 H4C5 H4C6 H4C8 H4C9 HAND1 HAND2 HDAC1 HDAC2 HDAC3 HELZ2 HES1 HES7 HEY1 HEY2 HHEX HIF3A HINT1 HIRA HJV HMGCR HNF1A HNF1B HNF4A HNF4G HNRNPU HOPX HOXA1 HOXA11 HOXA2 HOXA3 HOXA4 HOXA6 HOXB1 HOXB2 HOXB3 HOXB4 HOXC11 HOXC4 HOXD1 HOXD11 HOXD3 HOXD4 HRAS HSP90AA1 HSP90AB1 HSPA8 IAPP IARS1 ID1 ID4 IHH IL6R INS INSM1 IRF4 IRS2 IRX1 IRX2 ISL1 ITGA1 ITGA10 ITGA2 ITGA2B ITGA5 ITGA6 ITGA8 ITGA9 ITGAV ITGB1 ITGB3 ITGB4 ITSN1 IVL JAG1 JUN JUP KALRN KARS1 KAT2A KAT2B KAT5 KAZN KCNQ2 KCNQ3 KDM4E KDM5A KDM5B KDM6A KDM6B KIF4A KIF4B KIT KITLG KLF4 KLF5 KLK1 KLK12 KLK13 KLK14 KLK5 KLK7 KLK8 KMT2A KMT2C KMT2D KPRP KRAS KRT1 KRT10 KRT12 KRT13 KRT14 KRT15 KRT16 KRT17 KRT18 KRT19 KRT2 KRT20 KRT23 KRT24 KRT25 KRT26 KRT27 KRT28 KRT3 KRT31 KRT32 KRT33A KRT33B KRT34 KRT35 KRT36 KRT37 KRT38 KRT39 KRT4 KRT40 KRT5 KRT6A KRT6B KRT6C KRT7 KRT71 KRT72 KRT73 KRT74 KRT75 KRT76 KRT77 KRT78 KRT79 KRT8 KRT80 KRT81 KRT82 KRT83 KRT84 KRT85 KRT86 KRT9 KRTAP1-1 KRTAP1-3 KRTAP1-4 KRTAP1-5 KRTAP10-1 KRTAP10-10 KRTAP10-11 KRTAP10-12 KRTAP10-2 KRTAP10-3 KRTAP10-4 KRTAP10-5 KRTAP10-6 KRTAP10-7 KRTAP10-8 KRTAP10-9 KRTAP11-1 KRTAP12-1 KRTAP12-2 KRTAP12-3 KRTAP12-4 KRTAP13-1 KRTAP13-2 KRTAP13-3 KRTAP13-4 KRTAP15-1 KRTAP16-1 KRTAP17-1 KRTAP19-1 KRTAP19-2 KRTAP19-3 KRTAP19-4 KRTAP19-5 KRTAP19-6 KRTAP19-7 KRTAP19-8 KRTAP2-1 KRTAP2-2 KRTAP2-3 KRTAP2-4 KRTAP20-1 KRTAP20-2 KRTAP21-1 KRTAP21-2 KRTAP21-3 KRTAP22-1 KRTAP23-1 KRTAP24-1 KRTAP25-1 KRTAP26-1 KRTAP27-1 KRTAP29-1 KRTAP3-1 KRTAP3-2 KRTAP3-3 KRTAP4-1 KRTAP4-11 KRTAP4-2 KRTAP4-3 KRTAP4-4 KRTAP4-5 KRTAP4-6 KRTAP4-7 KRTAP4-8 KRTAP4-9 KRTAP5-1 KRTAP5-10 KRTAP5-11 KRTAP5-2 KRTAP5-3 KRTAP5-4 KRTAP5-5 KRTAP5-6 KRTAP5-7 KRTAP5-8 KRTAP5-9 KRTAP6-1 KRTAP6-2 KRTAP8-1 KRTAP9-1 KRTAP9-2 KRTAP9-3 KRTAP9-4 KRTAP9-6 KRTAP9-7 KRTAP9-8 KRTAP9-9 KRTDAP L1CAM LAMA1 LAMA2 LAMA3 LAMA4 LAMA5 LAMB1 LAMB2 LAMB3 LAMC1 LAMC2 LAMC3 LARS1 LCE1A LCE1B LCE1C LCE1D LCE1E LCE1F LCE2A LCE2B LCE2C LCE2D LCE3A LCE3B LCE3C LCE3D LCE3E LCE4A LCE5A LCE6A LDB1 LEF1 LEFTY1 LEFTY2 LELP1 LEP LEUTX LFNG LGALS7 LGALS7B LGI1 LGI2 LGI3 LGI4 LHX1 LHX2 LHX3 LHX4 LHX9 LIG1 LIMK1 LIMK2 LIN28A LIPJ LIPK LIPM LIPN LORICRIN LPL LRIG1 LYN LYPLA2 MAFA MAFB MAG MAGOH MAGOHB MAML1 MAML2 MAML3 MAMLD1 MAP2K1 MAP2K2 MAP2K6 MAPK1 MAPK11 MAPK12 MAPK14 MAPK3 MAPK7 MARK3 MARS1 MBD3 MBP MC1R MC3R MC4R MC5R MCM2 MCM5 MECOM MED1 MED10 MED11 MED12 MED13 MED13L MED14 MED15 MED16 MED17 MED18 MED19 MED20 MED21 MED22 MED23 MED24 MED25 MED26 MED27 MED28 MED29 MED30 MED31 MED4 MED6 MED7 MED8 MED9 MEF2A MEF2B MEF2C MEF2D MEIS1 MESP1 MESP2 MET METTL23 MITF MIXL1 MLANA MLPH MME MMP2 MMP9 MOV10 MPZ MSGN1 MSI1 MSN MSX1 MTA1 MTA2 MTA3 MYB MYC MYF5 MYF6 MYH10 MYH11 MYH14 MYH9 MYL12A MYL12B MYL6 MYL9 MYO10 MYO5A MYO9B MYOCD MYOD1 MYOG MYRIP NAB1 NAB2 NANOG NCAM1 NCAN NCBP1 NCBP2 NCK1 NCK2 NCOA1 NCOA2 NCOA3 NCOA6 NCOR1 NCOR2 NCSTN NELL2 NEO1 NEUROD1 NEUROG3 NFASC NFKB1 NGEF NKX2-2 NKX2-5 NKX6-1 NODAL NOG NOTCH1 NOTO NPM2 NPNT NR2F2 NR5A1 NR5A2 NR6A1 NRAS NRCAM NRP1 NRP2 NRTN NTN1 NTN3 NTN4 NUMB ONECUT1 ONECUT3 OSR1 OTX2 PABPC1 PABPN1 PABPN1L PAGR1 PAIP1 PAK1 PAK2 PAK3 PAK4 PAK5 PAK6 PAX2 PAX3 PAX6 PAX7 PAX8 PAXIP1 PBX1 PCDH19 PCGF2 PCK1 PCSK6 PDIA2 PDLIM7 PDX1 PERP PFN1 PFN2 PI3 PIAS2 PIK3CA PIK3CB PIK3CD PIK3R1 PIK3R2 PIK3R3 PIP5K1C PITPNA PKLR PKNOX1 PKP2 PKP3 PKP4 PLA2G1B PLAC8 PLCG1 PLIN1 PLK1 PLXNA1 PLXNA2 PLXNA3 PLXNA4 PLXNB1 PLXNB3 PLXNC1 PLXND1 PMEL PML PMP22 PNLIP PNLIPRP2 POLR2A POLR2B POLR2C POLR2D POLR2E POLR2F POLR2G POLR2H POLR2I POLR2J POLR2K POLR2L POMC POU3F1 POU3F2 POU3F3 POU5F1 PPARA PPARG PPARGC1A PPARGC1B PPL PPP3CB PRDM14 PRDM16 PRKACA PRKACB PRKACG PRKAR2A PRKCA PRM1 PRM2 PRNP PROM1 PRSS1 PRSS3 PRSS8 PRX PSEN1 PSEN2 PSENEN PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 PSPN PTF1A PTGDS PTK2 PTPN11 PTPRA PTPRC PXDN PXN QARS1 RAB27A RAC1 RANBP9 RAP1GAP RARA RARB RARG RARS1 RASA1 RBBP4 RBBP5 RBBP7 RBM8A RBPJ RBX1 RDX REG1A RELA RELN RET RFX6 RGMA RGMB RHOA RHOB RHOC RIPPLY2 RNASE1 RND1 RNPS1 ROBO1 ROBO2 ROBO3 ROCK1 ROCK2 RPL10 RPL10A RPL10L RPL11 RPL12 RPL13 RPL13A RPL14 RPL15 RPL17 RPL18 RPL18A RPL19 RPL21 RPL22 RPL22L1 RPL23 RPL23A RPL24 RPL26 RPL26L1 RPL27 RPL27A RPL28 RPL29 RPL3 RPL30 RPL31 RPL32 RPL34 RPL35 RPL35A RPL36 RPL36A RPL36AL RPL37 RPL37A RPL38 RPL39 RPL39L RPL3L RPL4 RPL41 RPL5 RPL6 RPL7 RPL7A RPL8 RPL9 RPLP0 RPLP1 RPLP2 RPS10 RPS11 RPS12 RPS13 RPS14 RPS15 RPS15A RPS16 RPS17 RPS18 RPS19 RPS2 RPS20 RPS21 RPS23 RPS24 RPS25 RPS26 RPS27 RPS27A RPS27L RPS28 RPS29 RPS3 RPS3A RPS4X RPS4Y1 RPS4Y2 RPS5 RPS6 RPS6KA1 RPS6KA2 RPS6KA3 RPS6KA4 RPS6KA5 RPS6KA6 RPS7 RPS8 RPS9 RPSA RPTN RRAS RUNX1 RXRA SALL1 SALL4 SBSN SCD5 SCN10A SCN11A SCN1A SCN1B SCN2A SCN2B SCN3A SCN3B SCN4A SCN4B SCN5A SCN7A SCN8A SCN9A SDC2 SEM1 SEMA3A SEMA3E SEMA4A SEMA4D SEMA5A SEMA6A SEMA6D SEMA7A SERPINA4 SERPINE1 SH3GL2 SH3KBP1 SHC1 SHC3 SHH SHTN1 SIAH1 SIAH2 SIN3A SIRT1 SIX1 SIX2 SLC2A2 SLC2A4 SLC4A4 SLIT1 SLIT2 SLIT3 SMAD1 SMAD2 SMAD3 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC1 SMARCC2 SMARCD1 SMARCD2 SMARCD3 SMARCE1 SMYD1 SNAI1 SNAI2 SNW1 SOS1 SOS2 SOX1 SOX10 SOX17 SOX2 SOX9 SPAG9 SPI1 SPINK1 SPINK5 SPINK6 SPINK9 SPRR1A SPRR1B SPRR2A SPRR2B SPRR2D SPRR2E SPRR2F SPRR2G SPRR3 SPTA1 SPTAN1 SPTB SPTBN1 SPTBN2 SPTBN4 SPTBN5 SRC SREBF1 SREBF2 SRF SRGAP1 SRGAP2 SRGAP3 SRPK1 SRY SS18 SS18L1 ST14 ST8SIA2 ST8SIA4 STAT3 STPG4 STT3B STX1A STX1B SUMO1 SUZ12 SYCN SYTL2 TAL1 TBL1X TBL1XR1 TBPL2 TBX1 TBX2 TBX20 TBX3 TBX5 TBX6 TBXT TCF12 TCF3 TCF4 TCF7 TCF7L1 TCF7L2 TCHH TEAD1 TEAD2 TEAD4 TERT TET3 TFAP2A TFAP2B TFAP2C TFDP1 TFDP2 TFE3 TFEB TFEC TFPI2 TFRC TGFA TGFB1 TGM1 TGM5 TGS1 THRAP3 TIAM1 TLN1 TNFSF11 TNKS1BP1 TNRC6A TNRC6B TNRC6C TP53 TPRX1 TPRX2 TREM2 TRIM33 TRIO TRPC1 TRPC3 TRPC4 TRPC5 TRPC6 TRPC7 TRPM1 TUBA1A TUBA1B TUBA1C TUBA3C TUBA3D TUBA3E TUBA4A TUBA4B TUBA8 TUBAL3 TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB8 TUBB8B TUT4 TUT7 TYR TYROBP TYRP1 UBA52 UBB UBC UBE2I UCP1 UHRF1 UNC5A UNC5B UNC5C UNC5D UNG UPF2 UPF3A UPF3B USF1 USP33 UTRN VASP VAV2 VAV3 VIM VLDLR VTN WASL WDR5 WFDC2 WNT1 WNT10B WNT11 WNT3A WNT4 WNT9B WT1 WWTR1 XPO1 YAP1 YES1 YWHAB YWHAE YWHAG YWHAH YWHAZ YY1 ZEB1 ZEB2 ZFP36L2 ZFPM2 ZIC1 ZIC2 ZIC3 ZNF335 ZNF423 ZNF467 ZNF521 ZNF638 ZSCAN10 ZSCAN4 ZSWIM8 (see all 1471) (see less)
3	Axon guidance	Reactome	ABL1 ABL2 ABLIM1 ABLIM2 ABLIM3 ACTB ACTG1 ACTR2 ACTR3 ADAM10 ADRM1 AGAP2 AGRN AKAP5 ALCAM ANK1 ANK2 ANK3 AP2A1 AP2A2 AP2B1 AP2M1 AP2S1 APH1A APH1B ARHGAP35 ARHGAP39 ARHGEF11 ARHGEF12 ARHGEF28 ARHGEF7 ARPC1A ARPC1B ARPC2 ARPC3 ARPC4 ARPC5 ARTN BUB1B-PAK6 CACNA1C CACNA1D CACNA1G CACNA1H CACNA1I CACNA1S CACNB1 CACNB2 CACNB3 CACNB4 CAP1 CAP2 CASC3 CD24 CD72 CDC42 CDK5 CDK5R1 CFL1 CHL1 CLASP1 CLASP2 CLTA CLTB CLTC CLTCL1 CNTN1 CNTN2 CNTN6 CNTNAP1 COL2A1 COL3A1 COL4A1 COL4A2 COL4A3 COL4A4 COL4A5 COL5A1 COL5A2 COL5A3 COL6A1 COL6A2 COL6A3 COL6A5 COL6A6 COL9A1 COL9A2 COL9A3 CREB1 CRMP1 CSNK2A1 CSNK2A2 CSNK2B CUL2 CXCL12 CXCR4 DAB1 DAG1 DCX DLG1 DLG3 DLG4 DNM1 DNM2 DNM3 DOCK1 DOK1 DOK2 DOK4 DOK5 DOK6 DPYSL2 DPYSL3 DPYSL4 DPYSL5 DSCAM DSCAML1 EFNA1 EFNA2 EFNA3 EFNA4 EFNA5 EFNB1 EFNB2 EFNB3 EGFR EIF4A3 EIF4G1 ELOB ELOC ENAH EPHA1 EPHA10 EPHA2 EPHA3 EPHA4 EPHA5 EPHA6 EPHA7 EPHA8 EPHB1 EPHB2 EPHB3 EPHB4 EPHB6 ERBB2 ETF1 EVL EZR FARP2 FAU FES FGFR1 FLRT3 FRS2 FYN GAB1 GAB2 GAP43 GDNF GFRA1 GFRA2 GFRA3 GFRA4 GIT1 GPC1 GRB10 GRB2 GRB7 GRIN1 GRIN2B GSK3B GSPT1 GSPT2 HJV HOXA2 HRAS HSP90AA1 HSP90AB1 HSPA8 IRS2 ISL1 ITGA1 ITGA10 ITGA2 ITGA2B ITGA5 ITGA9 ITGAV ITGB1 ITGB3 ITSN1 KALRN KCNQ2 KCNQ3 KIF4A KIF4B KRAS L1CAM LAMA1 LAMB1 LAMC1 LDB1 LHX2 LHX3 LHX4 LHX9 LIMK1 LIMK2 LYN LYPLA2 MAGOH MAGOHB MAP2K1 MAP2K2 MAPK1 MAPK3 MAPK7 MET MMP2 MMP9 MSI1 MSN MYH10 MYH11 MYH14 MYH9 MYL12A MYL12B MYL6 MYL9 MYO10 MYO9B NCAM1 NCAN NCBP1 NCBP2 NCK1 NCK2 NCSTN NELL2 NEO1 NFASC NGEF NRAS NRCAM NRP1 NRP2 NRTN NTN1 NTN4 NUMB PABPC1 PAK1 PAK2 PAK3 PAK4 PAK5 PAK6 PDLIM7 PFN1 PFN2 PIK3CA PIK3CB PIK3CD PIK3R1 PIK3R2 PIK3R3 PIP5K1C PITPNA PLCG1 PLXNA1 PLXNA2 PLXNA3 PLXNA4 PLXNB1 PLXNB3 PLXNC1 PLXND1 PPP3CB PRKACA PRKACB PRKACG PRKAR2A PRKCA PRNP PSEN1 PSEN2 PSENEN PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 PSPN PTK2 PTPN11 PTPRA PTPRC RAC1 RANBP9 RAP1GAP RASA1 RBM8A RBX1 RDX RELN RET RGMA RGMB RHOA RHOB RHOC RND1 RNPS1 ROBO1 ROBO2 ROBO3 ROCK1 ROCK2 RPL10 RPL10A RPL10L RPL11 RPL12 RPL13 RPL13A RPL14 RPL15 RPL17 RPL18 RPL18A RPL19 RPL21 RPL22 RPL22L1 RPL23 RPL23A RPL24 RPL26 RPL26L1 RPL27 RPL27A RPL28 RPL29 RPL3 RPL30 RPL31 RPL32 RPL34 RPL35 RPL35A RPL36 RPL36A RPL36AL RPL37 RPL37A RPL38 RPL39 RPL39L RPL3L RPL4 RPL41 RPL5 RPL6 RPL7 RPL7A RPL8 RPL9 RPLP0 RPLP1 RPLP2 RPS10 RPS11 RPS12 RPS13 RPS14 RPS15 RPS15A RPS16 RPS17 RPS18 RPS19 RPS2 RPS20 RPS21 RPS23 RPS24 RPS25 RPS26 RPS27 RPS27A RPS27L RPS28 RPS29 RPS3 RPS3A RPS4X RPS4Y1 RPS4Y2 RPS5 RPS6 RPS6KA1 RPS6KA2 RPS6KA3 RPS6KA4 RPS6KA5 RPS6KA6 RPS7 RPS8 RPS9 RPSA RRAS SCN10A SCN11A SCN1A SCN1B SCN2A SCN2B SCN3A SCN3B SCN4A SCN4B SCN5A SCN7A SCN8A SCN9A SDC2 SEM1 SEMA3A SEMA3E SEMA4A SEMA4D SEMA5A SEMA6A SEMA6D SEMA7A SH3GL2 SH3KBP1 SHC1 SHC3 SHTN1 SIAH1 SIAH2 SLIT1 SLIT2 SLIT3 SOS1 SOS2 SPTA1 SPTAN1 SPTB SPTBN1 SPTBN2 SPTBN4 SPTBN5 SRC SRGAP1 SRGAP2 SRGAP3 ST8SIA2 ST8SIA4 TIAM1 TLN1 TREM2 TRIO TRPC1 TRPC3 TRPC4 TRPC5 TRPC6 TRPC7 TUBA1A TUBA1B TUBA1C TUBA3C TUBA3D TUBA3E TUBA4A TUBA4B TUBA8 TUBAL3 TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB8 TUBB8B TYROBP UBA52 UBB UBC UNC5A UNC5B UNC5C UNC5D UPF2 UPF3A UPF3B USP33 VASP VAV2 VAV3 VLDLR WASL YES1 ZSWIM8 (see all 534) (see less)
4	Signaling by ROBO receptors	Reactome	ABL1 ABL2 ADRM1 AKAP5 ARHGAP39 BUB1B-PAK6 CAP1 CAP2 CASC3 CDC42 CLASP1 CLASP2 COL4A5 CUL2 CXCL12 CXCR4 DAG1 EIF4A3 EIF4G1 ELOB ELOC ENAH ETF1 EVL FAU FLRT3 GPC1 GSPT1 GSPT2 HOXA2 ISL1 LDB1 LHX2 LHX3 LHX4 LHX9 MAGOH MAGOHB MSI1 MYO9B NCBP1 NCBP2 NCK1 NCK2 NELL2 NRP1 NTN1 PABPC1 PAK1 PAK2 PAK3 PAK4 PAK5 PAK6 PFN1 PFN2 PPP3CB PRKACA PRKACB PRKACG PRKAR2A PRKCA PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RAC1 RBM8A RBX1 RHOA RNPS1 ROBO1 ROBO2 ROBO3 RPL10 RPL10A RPL10L RPL11 RPL12 RPL13 RPL13A RPL14 RPL15 RPL17 RPL18 RPL18A RPL19 RPL21 RPL22 RPL22L1 RPL23 RPL23A RPL24 RPL26 RPL26L1 RPL27 RPL27A RPL28 RPL29 RPL3 RPL30 RPL31 RPL32 RPL34 RPL35 RPL35A RPL36 RPL36A RPL36AL RPL37 RPL37A RPL38 RPL39 RPL39L RPL3L RPL4 RPL41 RPL5 RPL6 RPL7 RPL7A RPL8 RPL9 RPLP0 RPLP1 RPLP2 RPS10 RPS11 RPS12 RPS13 RPS14 RPS15 RPS15A RPS16 RPS17 RPS18 RPS19 RPS2 RPS20 RPS21 RPS23 RPS24 RPS25 RPS26 RPS27 RPS27A RPS27L RPS28 RPS29 RPS3 RPS3A RPS4X RPS4Y1 RPS4Y2 RPS5 RPS6 RPS7 RPS8 RPS9 RPSA SEM1 SLIT1 SLIT2 SLIT3 SOS1 SOS2 SRC SRGAP1 SRGAP2 SRGAP3 UBA52 UBB UBC UPF2 UPF3A UPF3B USP33 VASP ZSWIM8 (see all 205) (see less)
5	Regulation of expression of SLITs and ROBOs	Reactome	ADRM1 CASC3 COL4A5 CUL2 DAG1 EIF4A3 EIF4G1 ELOB ELOC ETF1 FAU GSPT1 GSPT2 HOXA2 ISL1 LDB1 LHX2 LHX3 LHX4 LHX9 MAGOH MAGOHB MSI1 NCBP1 NCBP2 PABPC1 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RBM8A RBX1 RNPS1 ROBO1 ROBO2 ROBO3 RPL10 RPL10A RPL10L RPL11 RPL12 RPL13 RPL13A RPL14 RPL15 RPL17 RPL18 RPL18A RPL19 RPL21 RPL22 RPL22L1 RPL23 RPL23A RPL24 RPL26 RPL26L1 RPL27 RPL27A RPL28 RPL29 RPL3 RPL30 RPL31 RPL32 RPL34 RPL35 RPL35A RPL36 RPL36A RPL36AL RPL37 RPL37A RPL38 RPL39 RPL39L RPL3L RPL4 RPL41 RPL5 RPL6 RPL7 RPL7A RPL8 RPL9 RPLP0 RPLP1 RPLP2 RPS10 RPS11 RPS12 RPS13 RPS14 RPS15 RPS15A RPS16 RPS17 RPS18 RPS19 RPS2 RPS20 RPS21 RPS23 RPS24 RPS25 RPS26 RPS27 RPS27A RPS27L RPS28 RPS29 RPS3 RPS3A RPS4X RPS4Y1 RPS4Y2 RPS5 RPS6 RPS7 RPS8 RPS9 RPSA SEM1 SLIT1 SLIT2 UBA52 UBB UBC UPF2 UPF3A UPF3B USP33 ZSWIM8 (see all 159) (see less)

Gene overlap in member pathways for Nervous system development SuperPath

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

#	Symbol	Description	Category	# Related Pathways
1	PSMD14	Proteasome 26S Subunit, Non-ATPase 14	Protein Coding	5
2	RNPS1	RNA Binding Protein With Serine Rich Domain 1	Protein Coding	5
3	ADRM1	ADRM1 26S Proteasome Ubiquitin Receptor	Protein Coding	5
4	RPL35	Ribosomal Protein L35	Protein Coding	5
5	RPL39L	Ribosomal Protein L39 Like	Protein Coding	5
6	COL4A5	Collagen Type IV Alpha 5 Chain	Protein Coding	5
7	RPS4Y2	Ribosomal Protein S4 Y-Linked 2	Protein Coding	5
8	RPL10L	Ribosomal Protein L10 Like	Protein Coding	5
9	DAG1	Dystroglycan 1	Protein Coding	5
10	EIF4G1	Eukaryotic Translation Initiation Factor 4 Gamma 1	Protein Coding	5
11	RPL22L1	Ribosomal Protein L22 Like 1	Protein Coding	5
12	ETF1	Eukaryotic Translation Termination Factor 1	Protein Coding	5
13	FAU	FAU Ubiquitin Like And Ribosomal Protein S30 Fusion	Protein Coding	5
14	CASC3	CASC3 Exon Junction Complex Subunit	Protein Coding	5
15	NCBP2	Nuclear Cap Binding Protein Subunit 2	Protein Coding	5
16	USP33	Ubiquitin Specific Peptidase 33	Protein Coding	5
17	ZSWIM8	Zinc Finger SWIM-Type Containing 8	Protein Coding	5
18	RPL13A	Ribosomal Protein L13a	Protein Coding	5
19	GSPT2	G1 To S Phase Transition 2	Protein Coding	5
20	RPL36	Ribosomal Protein L36	Protein Coding	5
21	UPF2	UPF2 Regulator Of Nonsense Mediated MRNA Decay	Protein Coding	5
22	PABPC1	Poly(A) Binding Protein Cytoplasmic 1	Protein Coding	5
23	GSPT1	G1 To S Phase Transition 1	Protein Coding	5
24	HOXA2	Homeobox A2	Protein Coding	5
25	ISL1	ISL LIM Homeobox 1	Protein Coding	5
26	RPSA	Ribosomal Protein SA	Protein Coding	5
27	MAGOH	Mago Homolog, Exon Junction Complex Subunit	Protein Coding	5
28	MSI1	Musashi RNA Binding Protein 1	Protein Coding	5
29	NCBP1	Nuclear Cap Binding Protein Subunit 1	Protein Coding	5
30	RPL10A	Ribosomal Protein L10a	Protein Coding	5
31	RPS27L	Ribosomal Protein S27 Like	Protein Coding	5
32	RPL26L1	Ribosomal Protein L26 Like 1	Protein Coding	5
33	MAGOHB	Mago Homolog B, Exon Junction Complex Subunit	Protein Coding	5
34	PSMA1	Proteasome 20S Subunit Alpha 1	Protein Coding	5
35	PSMA2	Proteasome 20S Subunit Alpha 2	Protein Coding	5
36	PSMA3	Proteasome 20S Subunit Alpha 3	Protein Coding	5
37	PSMA4	Proteasome 20S Subunit Alpha 4	Protein Coding	5
38	PSMA5	Proteasome 20S Subunit Alpha 5	Protein Coding	5
39	PSMA6	Proteasome 20S Subunit Alpha 6	Protein Coding	5
40	PSMA7	Proteasome 20S Subunit Alpha 7	Protein Coding	5
41	PSMB1	Proteasome 20S Subunit Beta 1	Protein Coding	5
42	PSMB2	Proteasome 20S Subunit Beta 2	Protein Coding	5
43	PSMB3	Proteasome 20S Subunit Beta 3	Protein Coding	5
44	PSMB4	Proteasome 20S Subunit Beta 4	Protein Coding	5
45	PSMB5	Proteasome 20S Subunit Beta 5	Protein Coding	5
46	PSMB6	Proteasome 20S Subunit Beta 6	Protein Coding	5
47	PSMB7	Proteasome 20S Subunit Beta 7	Protein Coding	5
48	LHX9	LIM Homeobox 9	Protein Coding	5
49	PSMC1	Proteasome 26S Subunit, ATPase 1	Protein Coding	5
50	PSMC2	Proteasome 26S Subunit, ATPase 2	Protein Coding	5
51	PSMC3	Proteasome 26S Subunit, ATPase 3	Protein Coding	5
52	PSMC4	Proteasome 26S Subunit, ATPase 4	Protein Coding	5
53	PSMC5	Proteasome 26S Subunit, ATPase 5	Protein Coding	5
54	PSMC6	Proteasome 26S Subunit, ATPase 6	Protein Coding	5
55	PSMD1	Proteasome 26S Subunit, Non-ATPase 1	Protein Coding	5
56	PSMD2	Proteasome 26S Subunit Ubiquitin Receptor, Non-ATPase 2	Protein Coding	5
57	PSMD3	Proteasome 26S Subunit, Non-ATPase 3	Protein Coding	5
58	PSMD7	Proteasome 26S Subunit, Non-ATPase 7	Protein Coding	5
59	PSMD8	Proteasome 26S Subunit, Non-ATPase 8	Protein Coding	5
60	PSMD11	Proteasome 26S Subunit, Non-ATPase 11	Protein Coding	5
61	PSMD12	Proteasome 26S Subunit, Non-ATPase 12	Protein Coding	5
62	PSMD13	Proteasome 26S Subunit, Non-ATPase 13	Protein Coding	5
63	ROBO1	Roundabout Guidance Receptor 1	Protein Coding	5
64	ROBO2	Roundabout Guidance Receptor 2	Protein Coding	5
65	RPL3	Ribosomal Protein L3	Protein Coding	5
66	RPL3L	Ribosomal Protein L3 Like	Protein Coding	5
67	RPL4	Ribosomal Protein L4	Protein Coding	5
68	RPL5	Ribosomal Protein L5	Protein Coding	5
69	RPL6	Ribosomal Protein L6	Protein Coding	5
70	RPL7	Ribosomal Protein L7	Protein Coding	5
71	RPL7A	Ribosomal Protein L7a	Protein Coding	5
72	RPL8	Ribosomal Protein L8	Protein Coding	5
73	RPL9	Ribosomal Protein L9	Protein Coding	5
74	RPL10	Ribosomal Protein L10	Protein Coding	5
75	RPL11	Ribosomal Protein L11	Protein Coding	5
76	RPL12	Ribosomal Protein L12	Protein Coding	5
77	RPL13	Ribosomal Protein L13	Protein Coding	5
78	RPL15	Ribosomal Protein L15	Protein Coding	5
79	RPL17	Ribosomal Protein L17	Protein Coding	5
80	RPL18	Ribosomal Protein L18	Protein Coding	5
81	RPL18A	Ribosomal Protein L18a	Protein Coding	5
82	RPL19	Ribosomal Protein L19	Protein Coding	5
83	RPL21	Ribosomal Protein L21	Protein Coding	5
84	RPL22	Ribosomal Protein L22	Protein Coding	5
85	RPL23A	Ribosomal Protein L23a	Protein Coding	5
86	RPL24	Ribosomal Protein L24	Protein Coding	5
87	RPL26	Ribosomal Protein L26	Protein Coding	5
88	RPL27	Ribosomal Protein L27	Protein Coding	5
89	RPL30	Ribosomal Protein L30	Protein Coding	5
90	RPL27A	Ribosomal Protein L27a	Protein Coding	5
91	RPL28	Ribosomal Protein L28	Protein Coding	5
92	RPL29	Ribosomal Protein L29	Protein Coding	5
93	RPL31	Ribosomal Protein L31	Protein Coding	5
94	RPL32	Ribosomal Protein L32	Protein Coding	5
95	RPL34	Ribosomal Protein L34	Protein Coding	5
96	RPL35A	Ribosomal Protein L35a	Protein Coding	5
97	RPL36AL	Ribosomal Protein L36a Like	Protein Coding	5
98	RPL37	Ribosomal Protein L37	Protein Coding	5
99	RPL37A	Ribosomal Protein L37a	Protein Coding	5
100	RPL38	Ribosomal Protein L38	Protein Coding	5
101	RPL39	Ribosomal Protein L39	Protein Coding	5
102	RPL41	Ribosomal Protein L41	Protein Coding	5
103	RPL36A	Ribosomal Protein L36a	Protein Coding	5
104	RPLP0	Ribosomal Protein Lateral Stalk Subunit P0	Protein Coding	5
105	RPLP1	Ribosomal Protein Lateral Stalk Subunit P1	Protein Coding	5
106	RPLP2	Ribosomal Protein Lateral Stalk Subunit P2	Protein Coding	5
107	RPS2	Ribosomal Protein S2	Protein Coding	5
108	RPS3	Ribosomal Protein S3	Protein Coding	5
109	RPS3A	Ribosomal Protein S3A	Protein Coding	5
110	RPS4X	Ribosomal Protein S4 X-Linked	Protein Coding	5
111	RPS4Y1	Ribosomal Protein S4 Y-Linked 1	Protein Coding	5
112	RPS5	Ribosomal Protein S5	Protein Coding	5
113	RPS6	Ribosomal Protein S6	Protein Coding	5
114	RPS7	Ribosomal Protein S7	Protein Coding	5
115	RPS8	Ribosomal Protein S8	Protein Coding	5
116	RPS9	Ribosomal Protein S9	Protein Coding	5
117	RPS10	Ribosomal Protein S10	Protein Coding	5
118	RPS11	Ribosomal Protein S11	Protein Coding	5
119	RPS12	Ribosomal Protein S12	Protein Coding	5
120	RPS13	Ribosomal Protein S13	Protein Coding	5
121	RPS14	Ribosomal Protein S14	Protein Coding	5
122	RPS15	Ribosomal Protein S15	Protein Coding	5
123	RPS15A	Ribosomal Protein S15a	Protein Coding	5
124	RPS16	Ribosomal Protein S16	Protein Coding	5
125	RPS17	Ribosomal Protein S17	Protein Coding	5
126	RPS18	Ribosomal Protein S18	Protein Coding	5
127	RPS19	Ribosomal Protein S19	Protein Coding	5
128	RPS20	Ribosomal Protein S20	Protein Coding	5
129	RPS21	Ribosomal Protein S21	Protein Coding	5
130	RPS23	Ribosomal Protein S23	Protein Coding	5
131	RPS24	Ribosomal Protein S24	Protein Coding	5
132	RPS25	Ribosomal Protein S25	Protein Coding	5
133	RPS26	Ribosomal Protein S26	Protein Coding	5
134	RPS27	Ribosomal Protein S27	Protein Coding	5
135	RPS27A	Ribosomal Protein S27a	Protein Coding	5
136	RPS28	Ribosomal Protein S28	Protein Coding	5
137	RPS29	Ribosomal Protein S29	Protein Coding	5
138	ROBO3	Roundabout Guidance Receptor 3	Protein Coding	5
139	UPF3B	UPF3B Regulator Of Nonsense Mediated MRNA Decay	Protein Coding	5
140	UPF3A	UPF3A Regulator Of Nonsense Mediated MRNA Decay	Protein Coding	5
141	SLIT1	Slit Guidance Ligand 1	Protein Coding	5
142	ELOC	Elongin C	Protein Coding	5
143	ELOB	Elongin B	Protein Coding	5
144	UBA52	Ubiquitin A-52 Residue Ribosomal Protein Fusion Product 1	Protein Coding	5
145	UBB	Ubiquitin B	Protein Coding	5
146	UBC	Ubiquitin C	Protein Coding	5
147	SEM1	SEM1 26S Proteasome Subunit	Protein Coding	5
148	LHX3	LIM Homeobox 3	Protein Coding	5
149	CUL2	Cullin 2	Protein Coding	5
150	LDB1	LIM Domain Binding 1	Protein Coding	5
151	LHX4	LIM Homeobox 4	Protein Coding	5
152	RPL14	Ribosomal Protein L14	Protein Coding	5
153	RPL23	Ribosomal Protein L23	Protein Coding	5
154	SLIT2	Slit Guidance Ligand 2	Protein Coding	5
155	LHX2	LIM Homeobox 2	Protein Coding	5
156	EIF4A3	Eukaryotic Translation Initiation Factor 4A3	Protein Coding	5
157	PSMD6	Proteasome 26S Subunit, Non-ATPase 6	Protein Coding	5
158	RBM8A	RNA Binding Motif Protein 8A	Protein Coding	5
159	RBX1	Ring-Box 1	Protein Coding	5
160	PAK4	P21 (RAC1) Activated Kinase 4	Protein Coding	4
161	CAP2	Cyclase Associated Actin Cytoskeleton Regulatory Protein 2	Protein Coding	4
162	CAP1	Cyclase Associated Actin Cytoskeleton Regulatory Protein 1	Protein Coding	4
163	BUB1B-PAK6	BUB1B-PAK6 Readthrough	Protein Coding	4
164	CLASP2	Cytoplasmic Linker Associated Protein 2	Protein Coding	4
165	CLASP1	Cytoplasmic Linker Associated Protein 1	Protein Coding	4
166	SRGAP2	SLIT-ROBO Rho GTPase Activating Protein 2	Protein Coding	4
167	FLRT3	Fibronectin Leucine Rich Transmembrane Protein 3	Protein Coding	4
168	ABL1	ABL Proto-Oncogene 1, Non-Receptor Tyrosine Kinase	Protein Coding	4
169	ABL2	ABL Proto-Oncogene 2, Non-Receptor Tyrosine Kinase	Protein Coding	4
170	GPC1	Glypican 1	Protein Coding	4
171	RHOA	Ras Homolog Family Member A	Protein Coding	4
172	MYO9B	Myosin IXB	Protein Coding	4
173	NCK1	NCK Adaptor Protein 1	Protein Coding	4
174	NELL2	Neural EGFL Like 2	Protein Coding	4
175	PAK1	P21 (RAC1) Activated Kinase 1	Protein Coding	4
176	PAK2	P21 (RAC1) Activated Kinase 2	Protein Coding	4
177	PAK3	P21 (RAC1) Activated Kinase 3	Protein Coding	4
178	EVL	Enah/Vasp-Like	Protein Coding	4
179	PFN1	Profilin 1	Protein Coding	4
180	PFN2	Profilin 2	Protein Coding	4
181	PPP3CB	Protein Phosphatase 3 Catalytic Subunit Beta	Protein Coding	4
182	PRKACA	Protein Kinase CAMP-Activated Catalytic Subunit Alpha	Protein Coding	4
183	PRKACB	Protein Kinase CAMP-Activated Catalytic Subunit Beta	Protein Coding	4
184	PRKACG	Protein Kinase CAMP-Activated Catalytic Subunit Gamma	Protein Coding	4
185	ENAH	ENAH Actin Regulator	Protein Coding	4
186	PRKAR2A	Protein Kinase CAMP-Dependent Type II Regulatory Subunit Alpha	Protein Coding	4
187	PRKCA	Protein Kinase C Alpha	Protein Coding	4
188	PAK6	P21 (RAC1) Activated Kinase 6	Protein Coding	4
189	PAK5	P21 (RAC1) Activated Kinase 5	Protein Coding	4
190	SRGAP1	SLIT-ROBO Rho GTPase Activating Protein 1	Protein Coding	4
191	RAC1	Rac Family Small GTPase 1	Protein Coding	4
192	CXCL12	C-X-C Motif Chemokine Ligand 12	Protein Coding	4
193	SLIT3	Slit Guidance Ligand 3	Protein Coding	4
194	SOS1	SOS Ras/Rac Guanine Nucleotide Exchange Factor 1	Protein Coding	4
195	SOS2	SOS Ras/Rho Guanine Nucleotide Exchange Factor 2	Protein Coding	4
196	SRC	SRC Proto-Oncogene, Non-Receptor Tyrosine Kinase	Protein Coding	4
197	VASP	Vasodilator Stimulated Phosphoprotein	Protein Coding	4
198	CXCR4	C-X-C Motif Chemokine Receptor 4	Protein Coding	4
199	ARHGAP39	Rho GTPase Activating Protein 39	Protein Coding	4
200	NCK2	NCK Adaptor Protein 2	Protein Coding	4
201	NRP1	Neuropilin 1	Protein Coding	4
202	NTN1	Netrin 1	Protein Coding	4
203	AKAP5	A-Kinase Anchoring Protein 5	Protein Coding	4
204	SRGAP3	SLIT-ROBO Rho GTPase Activating Protein 3	Protein Coding	4
205	CDC42	Cell Division Cycle 42	Protein Coding	4
206	CD24	CD24 Molecule	Protein Coding	3
207	RANBP9	RAN Binding Protein 9	Protein Coding	3
208	ARPC5	Actin Related Protein 2/3 Complex Subunit 5	Protein Coding	3
209	ARPC4	Actin Related Protein 2/3 Complex Subunit 4	Protein Coding	3
210	ARPC3	Actin Related Protein 2/3 Complex Subunit 3	Protein Coding	3
211	ARPC1B	Actin Related Protein 2/3 Complex Subunit 1B	Protein Coding	3
212	ACTR3	Actin Related Protein 3	Protein Coding	3
213	ACTR2	Actin Related Protein 2	Protein Coding	3
214	ARPC2	Actin Related Protein 2/3 Complex Subunit 2	Protein Coding	3
215	PLXNC1	Plexin C1	Protein Coding	3
216	ADAM10	ADAM Metallopeptidase Domain 10	Protein Coding	3
217	CDK5	Cyclin Dependent Kinase 5	Protein Coding	3
218	SEMA3A	Semaphorin 3A	Protein Coding	3
219	TUBA1B	Tubulin Alpha 1b	Protein Coding	3
220	TUBB3	Tubulin Beta 3 Class III	Protein Coding	3
221	TUBB4A	Tubulin Beta 4A Class IVa	Protein Coding	3
222	TUBB4B	Tubulin Beta 4B Class IVb	Protein Coding	3
223	MYL12B	Myosin Light Chain 12B	Protein Coding	3
224	MYL9	Myosin Light Chain 9	Protein Coding	3
225	VAV3	Vav Guanine Nucleotide Exchange Factor 3	Protein Coding	3
226	SEMA4D	Semaphorin 4D	Protein Coding	3
227	ARPC1A	Actin Related Protein 2/3 Complex Subunit 1A	Protein Coding	3
228	DPYSL4	Dihydropyrimidinase Like 4	Protein Coding	3
229	MYL12A	Myosin Light Chain 12A	Protein Coding	3
230	CFL1	Cofilin 1	Protein Coding	3
231	CHL1	Cell Adhesion Molecule L1 Like	Protein Coding	3
232	FRS2	Fibroblast Growth Factor Receptor Substrate 2	Protein Coding	3
233	TUBA3E	Tubulin Alpha 3e	Protein Coding	3
234	SCN11A	Sodium Voltage-Gated Channel Alpha Subunit 11	Protein Coding	3
235	LYPLA2	Lysophospholipase 2	Protein Coding	3
236	TUBA3D	Tubulin Alpha 3d	Protein Coding	3
237	AGAP2	ArfGAP With GTPase Domain, Ankyrin Repeat And PH Domain 2	Protein Coding	3
238	AP2M1	Adaptor Related Protein Complex 2 Subunit Mu 1	Protein Coding	3
239	AP2S1	Adaptor Related Protein Complex 2 Subunit Sigma 1	Protein Coding	3
240	CLTA	Clathrin Light Chain A	Protein Coding	3
241	CLTB	Clathrin Light Chain B	Protein Coding	3
242	CLTC	Clathrin Heavy Chain	Protein Coding	3
243	CNTN1	Contactin 1	Protein Coding	3
244	COL2A1	Collagen Type II Alpha 1 Chain	Protein Coding	3
245	COL3A1	Collagen Type III Alpha 1 Chain	Protein Coding	3
246	COL4A1	Collagen Type IV Alpha 1 Chain	Protein Coding	3
247	COL4A2	Collagen Type IV Alpha 2 Chain	Protein Coding	3
248	COL4A3	Collagen Type IV Alpha 3 Chain	Protein Coding	3
249	COL4A4	Collagen Type IV Alpha 4 Chain	Protein Coding	3
250	COL5A1	Collagen Type V Alpha 1 Chain	Protein Coding	3
251	COL5A2	Collagen Type V Alpha 2 Chain	Protein Coding	3
252	COL6A1	Collagen Type VI Alpha 1 Chain	Protein Coding	3
253	COL6A2	Collagen Type VI Alpha 2 Chain	Protein Coding	3
254	COL6A3	Collagen Type VI Alpha 3 Chain	Protein Coding	3
255	COL9A1	Collagen Type IX Alpha 1 Chain	Protein Coding	3
256	COL9A2	Collagen Type IX Alpha 2 Chain	Protein Coding	3
257	COL9A3	Collagen Type IX Alpha 3 Chain	Protein Coding	3
258	COL6A6	Collagen Type VI Alpha 6 Chain	Protein Coding	3
259	UNC5D	Unc-5 Netrin Receptor D	Protein Coding	3
260	CREB1	CAMP Responsive Element Binding Protein 1	Protein Coding	3
261	CRMP1	Collapsin Response Mediator Protein 1	Protein Coding	3
262	CSNK2A1	Casein Kinase 2 Alpha 1	Protein Coding	3
263	CSNK2A2	Casein Kinase 2 Alpha 2	Protein Coding	3
264	CSNK2B	Casein Kinase 2 Beta	Protein Coding	3
265	NCAN	Neurocan	Protein Coding	3
266	HJV	Hemojuvelin BMP Co-Receptor	Protein Coding	3
267	AP2A1	Adaptor Related Protein Complex 2 Subunit Alpha 1	Protein Coding	3
268	DAB1	DAB Adaptor Protein 1	Protein Coding	3
269	AP2A2	Adaptor Related Protein Complex 2 Subunit Alpha 2	Protein Coding	3
270	AP2B1	Adaptor Related Protein Complex 2 Subunit Beta 1	Protein Coding	3
271	DCX	Doublecortin	Protein Coding	3
272	DLG1	Discs Large MAGUK Scaffold Protein 1	Protein Coding	3
273	DLG3	Discs Large MAGUK Scaffold Protein 3	Protein Coding	3
274	DLG4	Discs Large MAGUK Scaffold Protein 4	Protein Coding	3
275	DNM1	Dynamin 1	Protein Coding	3
276	DNM2	Dynamin 2	Protein Coding	3
277	DOCK1	Dedicator Of Cytokinesis 1	Protein Coding	3
278	DOK1	Docking Protein 1	Protein Coding	3
279	DPYSL2	Dihydropyrimidinase Like 2	Protein Coding	3
280	DPYSL3	Dihydropyrimidinase Like 3	Protein Coding	3
281	DSCAM	DS Cell Adhesion Molecule	Protein Coding	3
282	EFNA1	Ephrin A1	Protein Coding	3
283	EFNA2	Ephrin A2	Protein Coding	3
284	EFNA3	Ephrin A3	Protein Coding	3
285	EFNA4	Ephrin A4	Protein Coding	3
286	EFNA5	Ephrin A5	Protein Coding	3
287	EFNB1	Ephrin B1	Protein Coding	3
288	EFNB2	Ephrin B2	Protein Coding	3
289	EFNB3	Ephrin B3	Protein Coding	3
290	EGFR	Epidermal Growth Factor Receptor	Protein Coding	3
291	EPHA2	EPH Receptor A2	Protein Coding	3
292	EPHA1	EPH Receptor A1	Protein Coding	3
293	EPHA3	EPH Receptor A3	Protein Coding	3
294	EPHA4	EPH Receptor A4	Protein Coding	3
295	EPHA5	EPH Receptor A5	Protein Coding	3
296	EPHA7	EPH Receptor A7	Protein Coding	3
297	EPHA8	EPH Receptor A8	Protein Coding	3
298	EPHB1	EPH Receptor B1	Protein Coding	3
299	EPHB2	EPH Receptor B2	Protein Coding	3
300	EPHB3	EPH Receptor B3	Protein Coding	3
301	EPHB4	EPH Receptor B4	Protein Coding	3
302	EPHB6	EPH Receptor B6	Protein Coding	3
303	ERBB2	Erb-B2 Receptor Tyrosine Kinase 2	Protein Coding	3
304	ALCAM	Activated Leukocyte Cell Adhesion Molecule	Protein Coding	3
305	UNC5B	Unc-5 Netrin Receptor B	Protein Coding	3
306	DOK6	Docking Protein 6	Protein Coding	3
307	FES	FES Proto-Oncogene, Tyrosine Kinase	Protein Coding	3
308	FGFR1	Fibroblast Growth Factor Receptor 1	Protein Coding	3
309	ABLIM3	Actin Binding LIM Protein Family Member 3	Protein Coding	3
310	NFASC	Neurofascin	Protein Coding	3
311	PLXND1	Plexin D1	Protein Coding	3
312	ARHGEF12	Rho Guanine Nucleotide Exchange Factor 12	Protein Coding	3
313	NCSTN	Nicastrin	Protein Coding	3
314	PIP5K1C	Phosphatidylinositol-4-Phosphate 5-Kinase Type 1 Gamma	Protein Coding	3
315	KIF4A	Kinesin Family Member 4A	Protein Coding	3
316	FYN	FYN Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	3
317	GAB1	GRB2 Associated Binding Protein 1	Protein Coding	3
318	COL6A5	Collagen Type VI Alpha 5 Chain	Protein Coding	3
319	NGEF	Neuronal Guanine Nucleotide Exchange Factor	Protein Coding	3
320	GAP43	Growth Associated Protein 43	Protein Coding	3
321	TUBB8B	Tubulin Beta 8B	Protein Coding	3
322	DNM3	Dynamin 3	Protein Coding	3
323	GDNF	Glial Cell Derived Neurotrophic Factor	Protein Coding	3
324	GFRA1	GDNF Family Receptor Alpha 1	Protein Coding	3
325	GFRA2	GDNF Family Receptor Alpha 2	Protein Coding	3
326	GFRA3	GDNF Family Receptor Alpha 3	Protein Coding	3
327	CNTN6	Contactin 6	Protein Coding	3
328	RND1	Rho Family GTPase 1	Protein Coding	3
329	RPS6KA6	Ribosomal Protein S6 Kinase A6	Protein Coding	3
330	LAMA1	Laminin Subunit Alpha 1	Protein Coding	3
331	EPHA10	EPH Receptor A10	Protein Coding	3
332	EPHA6	EPH Receptor A6	Protein Coding	3
333	KIF4B	Kinesin Family Member 4B	Protein Coding	3
334	RGMB	Repulsive Guidance Molecule BMP Co-Receptor B	Protein Coding	3
335	ANK1	Ankyrin 1	Protein Coding	3
336	ANK2	Ankyrin 2	Protein Coding	3
337	ANK3	Ankyrin 3	Protein Coding	3
338	GRB2	Growth Factor Receptor Bound Protein 2	Protein Coding	3
339	GRB7	Growth Factor Receptor Bound Protein 7	Protein Coding	3
340	GRB10	Growth Factor Receptor Bound Protein 10	Protein Coding	3
341	GIT1	GIT ArfGAP 1	Protein Coding	3
342	GRIN1	Glutamate Ionotropic Receptor NMDA Type Subunit 1	Protein Coding	3
343	GRIN2B	Glutamate Ionotropic Receptor NMDA Type Subunit 2B	Protein Coding	3
344	ARHGAP35	Rho GTPase Activating Protein 35	Protein Coding	3
345	GSK3B	Glycogen Synthase Kinase 3 Beta	Protein Coding	3
346	SH3KBP1	SH3 Domain Containing Kinase Binding Protein 1	Protein Coding	3
347	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	3
348	HSPA8	Heat Shock Protein Family A (Hsp70) Member 8	Protein Coding	3
349	HSP90AA1	Heat Shock Protein 90 Alpha Family Class A Member 1	Protein Coding	3
350	HSP90AB1	Heat Shock Protein 90 Alpha Family Class B Member 1	Protein Coding	3
351	TUBB8	Tubulin Beta 8 Class VIII	Protein Coding	3
352	TUBB2B	Tubulin Beta 2B Class IIb	Protein Coding	3
353	ITGA1	Integrin Subunit Alpha 1	Protein Coding	3
354	ITGA2	Integrin Subunit Alpha 2	Protein Coding	3
355	ITGA2B	Integrin Subunit Alpha 2b	Protein Coding	3
356	ITGA5	Integrin Subunit Alpha 5	Protein Coding	3
357	ITGA9	Integrin Subunit Alpha 9	Protein Coding	3
358	ITGAV	Integrin Subunit Alpha V	Protein Coding	3
359	ITGB1	Integrin Subunit Beta 1	Protein Coding	3
360	ITGB3	Integrin Subunit Beta 3	Protein Coding	3
361	AGRN	Agrin	Protein Coding	3
362	KCNQ2	Potassium Voltage-Gated Channel Subfamily Q Member 2	Protein Coding	3
363	KCNQ3	Potassium Voltage-Gated Channel Subfamily Q Member 3	Protein Coding	3
364	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	3
365	RHOB	Ras Homolog Family Member B	Protein Coding	3
366	RHOC	Ras Homolog Family Member C	Protein Coding	3
367	L1CAM	L1 Cell Adhesion Molecule	Protein Coding	3
368	LAMB1	Laminin Subunit Beta 1	Protein Coding	3
369	LAMC1	Laminin Subunit Gamma 1	Protein Coding	3
370	ABLIM1	Actin Binding LIM Protein 1	Protein Coding	3
371	LIMK1	LIM Domain Kinase 1	Protein Coding	3
372	LIMK2	LIM Domain Kinase 2	Protein Coding	3
373	LYN	LYN Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	3
374	MET	MET Proto-Oncogene, Receptor Tyrosine Kinase	Protein Coding	3
375	MMP2	Matrix Metallopeptidase 2	Protein Coding	3
376	MMP9	Matrix Metallopeptidase 9	Protein Coding	3
377	MSN	Moesin	Protein Coding	3
378	MYH9	Myosin Heavy Chain 9	Protein Coding	3
379	MYH10	Myosin Heavy Chain 10	Protein Coding	3
380	MYH11	Myosin Heavy Chain 11	Protein Coding	3
381	MYL6	Myosin Light Chain 6	Protein Coding	3
382	MYO10	Myosin X	Protein Coding	3
383	NCAM1	Neural Cell Adhesion Molecule 1	Protein Coding	3
384	NEO1	Neogenin 1	Protein Coding	3
385	NRAS	NRAS Proto-Oncogene, GTPase	Protein Coding	3
386	NRCAM	Neuronal Cell Adhesion Molecule	Protein Coding	3
387	NRTN	Neurturin	Protein Coding	3
388	COL5A3	Collagen Type V Alpha 3 Chain	Protein Coding	3
389	APH1A	Aph-1A Gamma-Secretase Subunit	Protein Coding	3
390	SPTBN5	Spectrin Beta, Non-Erythrocytic 5	Protein Coding	3
391	TUBA8	Tubulin Alpha 8	Protein Coding	3
392	PIK3CA	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha	Protein Coding	3
393	PIK3CB	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Beta	Protein Coding	3
394	PIK3CD	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Delta	Protein Coding	3
395	PIK3R1	Phosphoinositide-3-Kinase Regulatory Subunit 1	Protein Coding	3
396	PIK3R2	Phosphoinositide-3-Kinase Regulatory Subunit 2	Protein Coding	3
397	PITPNA	Phosphatidylinositol Transfer Protein Alpha	Protein Coding	3
398	PLCG1	Phospholipase C Gamma 1	Protein Coding	3
399	SHC3	SHC Adaptor Protein 3	Protein Coding	3
400	PLXNA1	Plexin A1	Protein Coding	3
401	PLXNA2	Plexin A2	Protein Coding	3
402	PLXNB1	Plexin B1	Protein Coding	3
403	PLXNB3	Plexin B3	Protein Coding	3
404	TREM2	Triggering Receptor Expressed On Myeloid Cells 2	Protein Coding	3
405	PLXNA3	Plexin A3	Protein Coding	3
406	DOK4	Docking Protein 4	Protein Coding	3
407	SCN3B	Sodium Voltage-Gated Channel Beta Subunit 3	Protein Coding	3
408	DOK5	Docking Protein 5	Protein Coding	3
409	PSENEN	Presenilin Enhancer, Gamma-Secretase Subunit	Protein Coding	3
410	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	3
411	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	3
412	MAPK7	Mitogen-Activated Protein Kinase 7	Protein Coding	3
413	MAP2K1	Mitogen-Activated Protein Kinase Kinase 1	Protein Coding	3
414	MAP2K2	Mitogen-Activated Protein Kinase Kinase 2	Protein Coding	3
415	PRNP	Prion Protein (Kanno Blood Group)	Protein Coding	3
416	PSPN	Persephin	Protein Coding	3
417	RELN	Reelin	Protein Coding	3
418	PSEN1	Presenilin 1	Protein Coding	3
419	PSEN2	Presenilin 2	Protein Coding	3
420	DPYSL5	Dihydropyrimidinase Like 5	Protein Coding	3
421	RGMA	Repulsive Guidance Molecule BMP Co-Receptor A	Protein Coding	3
422	TRPC7	Transient Receptor Potential Cation Channel Subfamily C Member 7	Protein Coding	3
423	DSCAML1	DS Cell Adhesion Molecule Like 1	Protein Coding	3
424	PTK2	Protein Tyrosine Kinase 2	Protein Coding	3
425	SEMA6A	Semaphorin 6A	Protein Coding	3
426	SHTN1	Shootin 1	Protein Coding	3
427	SPTBN4	Spectrin Beta, Non-Erythrocytic 4	Protein Coding	3
428	PTPN11	Protein Tyrosine Phosphatase Non-Receptor Type 11	Protein Coding	3
429	PTPRA	Protein Tyrosine Phosphatase Receptor Type A	Protein Coding	3
430	PTPRC	Protein Tyrosine Phosphatase Receptor Type C	Protein Coding	3
431	RAP1GAP	RAP1 GTPase Activating Protein	Protein Coding	3
432	RASA1	RAS P21 Protein Activator 1	Protein Coding	3
433	NTN4	Netrin 4	Protein Coding	3
434	RDX	Radixin	Protein Coding	3
435	RET	Ret Proto-Oncogene	Protein Coding	3
436	ACTB	Actin Beta	Protein Coding	3
437	ROCK1	Rho Associated Coiled-Coil Containing Protein Kinase 1	Protein Coding	3
438	RPS6KA1	Ribosomal Protein S6 Kinase A1	Protein Coding	3
439	RPS6KA2	Ribosomal Protein S6 Kinase A2	Protein Coding	3
440	RPS6KA3	Ribosomal Protein S6 Kinase A3	Protein Coding	3
441	RRAS	RAS Related	Protein Coding	3
442	SCN1A	Sodium Voltage-Gated Channel Alpha Subunit 1	Protein Coding	3
443	SCN1B	Sodium Voltage-Gated Channel Beta Subunit 1	Protein Coding	3
444	SCN2A	Sodium Voltage-Gated Channel Alpha Subunit 2	Protein Coding	3
445	SCN2B	Sodium Voltage-Gated Channel Beta Subunit 2	Protein Coding	3
446	SCN3A	Sodium Voltage-Gated Channel Alpha Subunit 3	Protein Coding	3
447	SCN4A	Sodium Voltage-Gated Channel Alpha Subunit 4	Protein Coding	3
448	SCN4B	Sodium Voltage-Gated Channel Beta Subunit 4	Protein Coding	3
449	SCN5A	Sodium Voltage-Gated Channel Alpha Subunit 5	Protein Coding	3
450	SCN7A	Sodium Voltage-Gated Channel Alpha Subunit 7	Protein Coding	3
451	SCN8A	Sodium Voltage-Gated Channel Alpha Subunit 8	Protein Coding	3
452	SCN9A	Sodium Voltage-Gated Channel Alpha Subunit 9	Protein Coding	3
453	SCN10A	Sodium Voltage-Gated Channel Alpha Subunit 10	Protein Coding	3
454	SDC2	Syndecan 2	Protein Coding	3
455	GFRA4	GDNF Family Receptor Alpha 4	Protein Coding	3
456	SEMA4A	Semaphorin 4A	Protein Coding	3
457	ARHGEF28	Rho Guanine Nucleotide Exchange Factor 28	Protein Coding	3
458	ITSN1	Intersectin 1	Protein Coding	3
459	SH3GL2	SH3 Domain Containing GRB2 Like 2, Endophilin A1	Protein Coding	3
460	SHC1	SHC Adaptor Protein 1	Protein Coding	3
461	SIAH1	Siah E3 Ubiquitin Protein Ligase 1	Protein Coding	3
462	SIAH2	Siah E3 Ubiquitin Protein Ligase 2	Protein Coding	3
463	SPTA1	Spectrin Alpha, Erythrocytic 1	Protein Coding	3
464	SPTAN1	Spectrin Alpha, Non-Erythrocytic 1	Protein Coding	3
465	SPTB	Spectrin Beta, Erythrocytic	Protein Coding	3
466	SPTBN1	Spectrin Beta, Non-Erythrocytic 1	Protein Coding	3
467	SPTBN2	Spectrin Beta, Non-Erythrocytic 2	Protein Coding	3
468	CNTN2	Contactin 2	Protein Coding	3
469	TIAM1	TIAM Rac1 Associated GEF 1	Protein Coding	3
470	TLN1	Talin 1	Protein Coding	3
471	ACTG1	Actin Gamma 1	Protein Coding	3
472	TRIO	Trio Rho Guanine Nucleotide Exchange Factor	Protein Coding	3
473	TRPC1	Transient Receptor Potential Cation Channel Subfamily C Member 1	Protein Coding	3
474	TRPC3	Transient Receptor Potential Cation Channel Subfamily C Member 3	Protein Coding	3
475	TRPC4	Transient Receptor Potential Cation Channel Subfamily C Member 4	Protein Coding	3
476	TRPC5	Transient Receptor Potential Cation Channel Subfamily C Member 5	Protein Coding	3
477	TRPC6	Transient Receptor Potential Cation Channel Subfamily C Member 6	Protein Coding	3
478	TUBA4A	Tubulin Alpha 4a	Protein Coding	3
479	TUBA3C	Tubulin Alpha 3c	Protein Coding	3
480	TUBB2A	Tubulin Beta 2A Class IIa	Protein Coding	3
481	TYROBP	Transmembrane Immune Signaling Adaptor TYROBP	Protein Coding	3
482	VAV2	Vav Guanine Nucleotide Exchange Factor 2	Protein Coding	3
483	EZR	Ezrin	Protein Coding	3
484	VLDLR	Very Low Density Lipoprotein Receptor	Protein Coding	3
485	YES1	YES Proto-Oncogene 1, Src Family Tyrosine Kinase	Protein Coding	3
486	CACNA1C	Calcium Voltage-Gated Channel Subunit Alpha1 C	Protein Coding	3
487	CACNA1D	Calcium Voltage-Gated Channel Subunit Alpha1 D	Protein Coding	3
488	CACNA1S	Calcium Voltage-Gated Channel Subunit Alpha1 S	Protein Coding	3
489	CACNB1	Calcium Voltage-Gated Channel Auxiliary Subunit Beta 1	Protein Coding	3
490	CACNB2	Calcium Voltage-Gated Channel Auxiliary Subunit Beta 2	Protein Coding	3
491	CACNB3	Calcium Voltage-Gated Channel Auxiliary Subunit Beta 3	Protein Coding	3
492	TUBA1A	Tubulin Alpha 1a	Protein Coding	3
493	CACNB4	Calcium Voltage-Gated Channel Auxiliary Subunit Beta 4	Protein Coding	3
494	ST8SIA4	ST8 Alpha-N-Acetyl-Neuraminide Alpha-2,8-Sialyltransferase 4	Protein Coding	3
495	MYH14	Myosin Heavy Chain 14	Protein Coding	3
496	TUBAL3	Tubulin Alpha Like 3	Protein Coding	3
497	SEMA6D	Semaphorin 6D	Protein Coding	3
498	TUBA4B	Tubulin Alpha 4b	Protein Coding	3
499	TUBB1	Tubulin Beta 1 Class VI	Protein Coding	3
500	ST8SIA2	ST8 Alpha-N-Acetyl-Neuraminide Alpha-2,8-Sialyltransferase 2	Protein Coding	3
501	CLTCL1	Clathrin Heavy Chain Like 1	Protein Coding	3
502	APH1B	Aph-1B Gamma-Secretase Subunit	Protein Coding	3
503	ABLIM2	Actin Binding LIM Protein Family Member 2	Protein Coding	3
504	TUBB6	Tubulin Beta 6 Class V	Protein Coding	3
505	TUBA1C	Tubulin Alpha 1c	Protein Coding	3
506	SEMA7A	Semaphorin 7A (JohnMiltonHagen Blood Group)	Protein Coding	3
507	PIK3R3	Phosphoinositide-3-Kinase Regulatory Subunit 3	Protein Coding	3
508	CNTNAP1	Contactin Associated Protein 1	Protein Coding	3
509	ITGA10	Integrin Subunit Alpha 10	Protein Coding	3
510	UNC5C	Unc-5 Netrin Receptor C	Protein Coding	3
511	NUMB	NUMB Endocytic Adaptor Protein	Protein Coding	3
512	IRS2	Insulin Receptor Substrate 2	Protein Coding	3
513	NRP2	Neuropilin 2	Protein Coding	3
514	CDK5R1	Cyclin Dependent Kinase 5 Regulatory Subunit 1	Protein Coding	3
515	ARHGEF7	Rho Guanine Nucleotide Exchange Factor 7	Protein Coding	3
516	CACNA1I	Calcium Voltage-Gated Channel Subunit Alpha1 I	Protein Coding	3
517	CACNA1H	Calcium Voltage-Gated Channel Subunit Alpha1 H	Protein Coding	3
518	CACNA1G	Calcium Voltage-Gated Channel Subunit Alpha1 G	Protein Coding	3
519	WASL	WASP Like Actin Nucleation Promoting Factor	Protein Coding	3
520	RPS6KA4	Ribosomal Protein S6 Kinase A4	Protein Coding	3
521	KALRN	Kalirin RhoGEF Kinase	Protein Coding	3
522	UNC5A	Unc-5 Netrin Receptor A	Protein Coding	3
523	SEMA5A	Semaphorin 5A	Protein Coding	3
524	DOK2	Docking Protein 2	Protein Coding	3
525	ARTN	Artemin	Protein Coding	3
526	PLXNA4	Plexin A4	Protein Coding	3
527	RPS6KA5	Ribosomal Protein S6 Kinase A5	Protein Coding	3
528	PDLIM7	PDZ And LIM Domain 7	Protein Coding	3
529	ROCK2	Rho Associated Coiled-Coil Containing Protein Kinase 2	Protein Coding	3
530	CD72	CD72 Molecule	Protein Coding	3
531	SEMA3E	Semaphorin 3E	Protein Coding	3
532	ARHGEF11	Rho Guanine Nucleotide Exchange Factor 11	Protein Coding	3
533	GAB2	GRB2 Associated Binding Protein 2	Protein Coding	3
534	FARP2	FERM, ARH/RhoGEF And Pleckstrin Domain Protein 2	Protein Coding	3
535	YAP1	Yes1 Associated Transcriptional Regulator	Protein Coding	2
536	CYP51A1	Cytochrome P450 Family 51 Subfamily A Member 1	Protein Coding	2
537	DRP2	Dystrophin Related Protein 2	Protein Coding	2
538	EGR2	Early Growth Response 2	Protein Coding	2
539	WWTR1	WW Domain Containing Transcription Regulator 1	Protein Coding	2
540	HDAC2	Histone Deacetylase 2	Protein Coding	2
541	HMGCR	3-Hydroxy-3-Methylglutaryl-CoA Reductase	Protein Coding	2
542	LAMA2	Laminin Subunit Alpha 2	Protein Coding	2
543	MAG	Myelin Associated Glycoprotein	Protein Coding	2
544	MBP	Myelin Basic Protein	Protein Coding	2
545	MPZ	Myelin Protein Zero	Protein Coding	2
546	NAB1	NGFI-A Binding Protein 1	Protein Coding	2
547	NAB2	NGFI-A Binding Protein 2	Protein Coding	2
548	PMP22	Peripheral Myelin Protein 22	Protein Coding	2
549	POU3F1	POU Class 3 Homeobox 1	Protein Coding	2
550	POU3F2	POU Class 3 Homeobox 2	Protein Coding	2
551	ADGRG6	Adhesion G Protein-Coupled Receptor G6	Protein Coding	2
552	PRX	Periaxin	Protein Coding	2
553	SMARCA4	SWI/SNF Related BAF Chromatin Remodeling Complex Subunit ATPase 4	Protein Coding	2
554	SOX10	SRY-Box Transcription Factor 10	Protein Coding	2
555	SREBF2	Sterol Regulatory Element Binding Transcription Factor 2	Protein Coding	2
556	TEAD1	TEA Domain Transcription Factor 1	Protein Coding	2
557	UTRN	Utrophin	Protein Coding	2
558	SCD5	Stearoyl-CoA Desaturase 5	Protein Coding	2
559	ADGRV1	Adhesion G Protein-Coupled Receptor V1	Protein Coding	2
560	CDH2	Cadherin 2	Protein Coding	1
561	AKT3	AKT Serine/Threonine Kinase 3	Protein Coding	1
562	MED6	Mediator Complex Subunit 6	Protein Coding	1
563	DUXB	Double Homeobox B	Protein Coding	1
564	KRTAP25-1	Keratin Associated Protein 25-1	Protein Coding	1
565	KRTAP4-9	Keratin Associated Protein 4-9	Protein Coding	1
566	KRTAP4-7	Keratin Associated Protein 4-7	Protein Coding	1
567	CDH4	Cadherin 4	Protein Coding	1
568	MED16	Mediator Complex Subunit 16	Protein Coding	1
569	MEF2B	Myocyte Enhancer Factor 2B	Protein Coding	1
570	KRTAP21-3	Keratin Associated Protein 21-3	Protein Coding	1
571	DUX4	Double Homeobox 4	Protein Coding	1
572	MAMLD1	Mastermind Like Domain Containing 1	Protein Coding	1
573	KRTAP9-7	Keratin Associated Protein 9-7	Protein Coding	1
574	KRTAP16-1	Keratin Associated Protein 16-1	Protein Coding	1
575	KRTAP9-6	Keratin Associated Protein 9-6	Protein Coding	1
576	KRTAP29-1	Keratin Associated Like Protein 29-1	Protein Coding	1
577	EDIL3	EGF Like And Discoidin Domains 3	Protein Coding	1
578	CDH15	Cadherin 15	Protein Coding	1
579	CDK2	Cyclin Dependent Kinase 2	Protein Coding	1
580	CDK4	Cyclin Dependent Kinase 4	Protein Coding	1
581	CDK8	Cyclin Dependent Kinase 8	Protein Coding	1
582	CDKN1A	Cyclin Dependent Kinase Inhibitor 1A	Protein Coding	1
583	CDKN2A	Cyclin Dependent Kinase Inhibitor 2A	Protein Coding	1
584	LAMC3	Laminin Subunit Gamma 3	Protein Coding	1
585	NPM2	Nucleophosmin/Nucleoplasmin 2	Protein Coding	1
586	CACNG3	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 3	Protein Coding	1
587	CACNG2	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 2	Protein Coding	1
588	WFDC2	WAP Four-Disulfide Core Domain 2	Protein Coding	1
589	CDSN	Corneodesmosin	Protein Coding	1
590	CARM1	Coactivator Associated Arginine Methyltransferase 1	Protein Coding	1
591	NCOA2	Nuclear Receptor Coactivator 2	Protein Coding	1
592	CEBPA	CCAAT Enhancer Binding Protein Alpha	Protein Coding	1
593	CEBPB	CCAAT Enhancer Binding Protein Beta	Protein Coding	1
594	CEBPD	CCAAT Enhancer Binding Protein Delta	Protein Coding	1
595	KAT5	Lysine Acetyltransferase 5	Protein Coding	1
596	CEBPE	CCAAT Enhancer Binding Protein Epsilon	Protein Coding	1
597	CEL	Carboxyl Ester Lipase	Protein Coding	1
598	DRAP1	DR1 Associated Protein 1	Protein Coding	1
599	PAIP1	Poly(A) Binding Protein Interacting Protein 1	Protein Coding	1
600	LEFTY1	Left-Right Determination Factor 1	Protein Coding	1
601	CTCF	CCCTC-Binding Factor	Protein Coding	1
602	DLL3	Delta Like Canonical Notch Ligand 3	Protein Coding	1
603	SIX2	SIX Homeobox 2	Protein Coding	1
604	KDM5B	Lysine Demethylase 5B	Protein Coding	1
605	CFTR	CF Transmembrane Conductance Regulator	Protein Coding	1
606	PPARGC1A	PPARG Coactivator 1 Alpha	Protein Coding	1
607	ADIRF	Adipogenesis Regulatory Factor	Protein Coding	1
608	SPINK5	Serine Peptidase Inhibitor Kazal Type 5	Protein Coding	1
609	CHD3	Chromodomain Helicase DNA Binding Protein 3	Protein Coding	1
610	CHD4	Chromodomain Helicase DNA Binding Protein 4	Protein Coding	1
611	WDR5	WD Repeat Domain 5	Protein Coding	1
612	PKP3	Plakophilin 3	Protein Coding	1
613	KLK8	Kallikrein Related Peptidase 8	Protein Coding	1
614	STX1B	Syntaxin 1B	Protein Coding	1
615	KRT71	Keratin 71	Protein Coding	1
616	MED8	Mediator Complex Subunit 8	Protein Coding	1
617	CTRC	Chymotrypsin C	Protein Coding	1
618	CIDEA	Cell Death Inducing DFFA Like Effector A	Protein Coding	1
619	KRT74	Keratin 74	Protein Coding	1
620	H4C16	H4 Histone 16	Protein Coding	1
621	METTL23	Methyltransferase 23, Arginine	Protein Coding	1
622	KRT40	Keratin 40	Protein Coding	1
623	CNN1	Calponin 1	Protein Coding	1
624	RPTN	Repetin	Protein Coding	1
625	H3C14	H3 Clustered Histone 14	Protein Coding	1
626	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	1
627	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	1
628	H2BC26	H2B Clustered Histone 26	Protein Coding	1
629	DIS3L2	DIS3 Like 3''-5'' Exoribonuclease 2	Protein Coding	1
630	COL11A1	Collagen Type XI Alpha 1 Chain	Protein Coding	1
631	COL11A2	Collagen Type XI Alpha 2 Chain	Protein Coding	1
632	ACVR1C	Activin A Receptor Type 1C	Protein Coding	1
633	OSR1	Odd-Skipped Related Transcription Factor 1	Protein Coding	1
634	H1-8	H1.8 Linker Histone	Protein Coding	1
635	PPARGC1B	PPARG Coactivator 1 Beta	Protein Coding	1
636	COX7A1	Cytochrome C Oxidase Subunit 7A1	Protein Coding	1
637	RIPPLY2	Ripply Transcriptional Repressor 2	Protein Coding	1
638	CPA1	Carboxypeptidase A1	Protein Coding	1
639	CPA2	Carboxypeptidase A2	Protein Coding	1
640	CPB1	Carboxypeptidase B1	Protein Coding	1
641	CREBBP	CREB Binding Lysine Acetyltransferase	Protein Coding	1
642	KRTAP13-1	Keratin Associated Protein 13-1	Protein Coding	1
643	KRT72	Keratin 72	Protein Coding	1
644	LIPJ	Lipase Family Member J	Protein Coding	1
645	MAPK14	Mitogen-Activated Protein Kinase 14	Protein Coding	1
646	CSF1	Colony Stimulating Factor 1	Protein Coding	1
647	CSF3R	Colony Stimulating Factor 3 Receptor	Protein Coding	1
648	KRT80	Keratin 80	Protein Coding	1
649	GSC	Goosecoid Homeobox	Protein Coding	1
650	MESP2	Mesoderm Posterior BHLH Transcription Factor 2	Protein Coding	1
651	CSPG4	Chondroitin Sulfate Proteoglycan 4	Protein Coding	1
652	KRT25	Keratin 25	Protein Coding	1
653	DSG4	Desmoglein 4	Protein Coding	1
654	CSTA	Cystatin A	Protein Coding	1
655	NKX2-5	NK2 Homeobox 5	Protein Coding	1
656	LELP1	Late Cornified Envelope Like Proline Rich 1	Protein Coding	1
657	CTNNA1	Catenin Alpha 1	Protein Coding	1
658	CTNNA2	Catenin Alpha 2	Protein Coding	1
659	CTNNB1	Catenin Beta 1	Protein Coding	1
660	SMYD1	SET And MYND Domain Containing 1	Protein Coding	1
661	CTRL	Chymotrypsin Like	Protein Coding	1
662	DPPA2	Developmental Pluripotency Associated 2	Protein Coding	1
663	IRX2	Iroquois Homeobox 2	Protein Coding	1
664	DARS1	Aspartyl-TRNA Synthetase 1	Protein Coding	1
665	KRT28	Keratin 28	Protein Coding	1
666	LGI4	Leucine Rich Repeat LGI Family Member 4	Protein Coding	1
667	DCT	Dopachrome Tautomerase	Protein Coding	1
668	ZNF467	Zinc Finger Protein 467	Protein Coding	1
669	BHLHA15	Basic Helix-Loop-Helix Family Member A15	Protein Coding	1
670	DIAPH1	Diaphanous Related Formin 1	Protein Coding	1
671	DIO2	Iodothyronine Deiodinase 2	Protein Coding	1
672	DLX5	Distal-Less Homeobox 5	Protein Coding	1
673	DMRT1	Doublesex And Mab-3 Related Transcription Factor 1	Protein Coding	1
674	JAG1	Jagged Canonical Notch Ligand 1	Protein Coding	1
675	DSC1	Desmocollin 1	Protein Coding	1
676	DSC2	Desmocollin 2	Protein Coding	1
677	DSC3	Desmocollin 3	Protein Coding	1
678	DSG3	Desmoglein 3	Protein Coding	1
679	E2F1	E2F Transcription Factor 1	Protein Coding	1
680	EBF1	EBF Transcription Factor 1	Protein Coding	1
681	EDN1	Endothelin 1	Protein Coding	1
682	EDN3	Endothelin 3	Protein Coding	1
683	EDNRB	Endothelin Receptor Type B	Protein Coding	1
684	KRT24	Keratin 24	Protein Coding	1
685	AGO3	Argonaute RISC Catalytic Component 3	Protein Coding	1
686	AGO4	Argonaute RISC Component 4	Protein Coding	1
687	EGF	Epidermal Growth Factor	Protein Coding	1
688	KRT78	Keratin 78	Protein Coding	1
689	EIF4A1	Eukaryotic Translation Initiation Factor 4A1	Protein Coding	1
690	EIF4A2	Eukaryotic Translation Initiation Factor 4A2	Protein Coding	1
691	EIF4B	Eukaryotic Translation Initiation Factor 4B	Protein Coding	1
692	EIF4E	Eukaryotic Translation Initiation Factor 4E	Protein Coding	1
693	DAND5	DAN Domain BMP Antagonist Family Member 5	Protein Coding	1
694	LCE4A	Late Cornified Envelope 4A	Protein Coding	1
695	TET3	Tet Methylcytosine Dioxygenase 3	Protein Coding	1
696	ZSCAN4	Zinc Finger And SCAN Domain Containing 4	Protein Coding	1
697	STT3B	STT3 Oligosaccharyltransferase Complex Catalytic Subunit B	Protein Coding	1
698	EMX2	Empty Spiracles Homeobox 2	Protein Coding	1
699	ERICH5	Glutamate Rich 5	Protein Coding	1
700	LGI3	Leucine Rich Repeat LGI Family Member 3	Protein Coding	1
701	EP300	EP300 Lysine Acetyltransferase	Protein Coding	1
702	EPAS1	Endothelial PAS Domain Protein 1	Protein Coding	1
703	EPRS1	Glutamyl-Prolyl-TRNA Synthetase 1	Protein Coding	1
704	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	1
705	AKT2	AKT Serine/Threonine Kinase 2	Protein Coding	1
706	MECOM	MDS1 And EVI1 Complex Locus	Protein Coding	1
707	EVPL	Envoplakin	Protein Coding	1
708	EYA1	EYA Transcriptional Coactivator And Phosphatase 1	Protein Coding	1
709	EZH2	Enhancer Of Zeste 2 Polycomb Repressive Complex 2 Subunit	Protein Coding	1
710	ALDH1A1	Aldehyde Dehydrogenase 1 Family Member A1	Protein Coding	1
711	FABP4	Fatty Acid Binding Protein 4	Protein Coding	1
712	FABP5	Fatty Acid Binding Protein 5	Protein Coding	1
713	MED19	Mediator Complex Subunit 19	Protein Coding	1
714	ALDH1A3	Aldehyde Dehydrogenase 1 Family Member A3	Protein Coding	1
715	RFX6	Regulatory Factor X6	Protein Coding	1
716	FGF2	Fibroblast Growth Factor 2	Protein Coding	1
717	FGF4	Fibroblast Growth Factor 4	Protein Coding	1
718	FGF7	Fibroblast Growth Factor 7	Protein Coding	1
719	FGF8	Fibroblast Growth Factor 8	Protein Coding	1
720	FGF9	Fibroblast Growth Factor 9	Protein Coding	1
721	FGF10	Fibroblast Growth Factor 10	Protein Coding	1
722	TFEC	Transcription Factor EC	Protein Coding	1
723	SNW1	SNW Domain Containing 1	Protein Coding	1
724	FOXF1	Forkhead Box F1	Protein Coding	1
725	FOXC1	Forkhead Box C1	Protein Coding	1
726	PAXIP1	PAX Interacting Protein 1	Protein Coding	1
727	CNOT1	CCR4-NOT Transcription Complex Subunit 1	Protein Coding	1
728	FOXC2	Forkhead Box C2	Protein Coding	1
729	NCOA6	Nuclear Receptor Coactivator 6	Protein Coding	1
730	FOXO1	Forkhead Box O1	Protein Coding	1
731	FOXO3	Forkhead Box O3	Protein Coding	1
732	ZNF423	Zinc Finger Protein 423	Protein Coding	1
733	CDK19	Cyclin Dependent Kinase 19	Protein Coding	1
734	TNRC6B	Trinucleotide Repeat Containing Adaptor 6B	Protein Coding	1
735	FLG	Filaggrin	Protein Coding	1
736	FLI1	Fli-1 Proto-Oncogene, ETS Transcription Factor	Protein Coding	1
737	KDM6B	Lysine Demethylase 6B	Protein Coding	1
738	MLANA	Melan-A	Protein Coding	1
739	KAZN	Kazrin, Periplakin Interacting Protein	Protein Coding	1
740	TUT4	Terminal Uridylyl Transferase 4	Protein Coding	1
741	FN1	Fibronectin 1	Protein Coding	1
742	MED13L	Mediator Complex Subunit 13L	Protein Coding	1
743	DICER1	Dicer 1, Ribonuclease III	Protein Coding	1
744	SIRT1	Sirtuin 1	Protein Coding	1
745	ZFPM2	Zinc Finger Protein, FOG Family Member 2	Protein Coding	1
746	CELA3B	Chymotrypsin Like Elastase 3B	Protein Coding	1
747	HEY1	Hes Related Family BHLH Transcription Factor With YRPW Motif 1	Protein Coding	1
748	HEY2	Hes Related Family BHLH Transcription Factor With YRPW Motif 2	Protein Coding	1
749	SUZ12	SUZ12 Polycomb Repressive Complex 2 Subunit	Protein Coding	1
750	CASP14	Caspase 14	Protein Coding	1
751	CNOT6L	CCR4-NOT Transcription Complex Subunit 6 Like	Protein Coding	1
752	NR5A2	Nuclear Receptor Subfamily 5 Group A Member 2	Protein Coding	1
753	NR5A1	Nuclear Receptor Subfamily 5 Group A Member 1	Protein Coding	1
754	LCE5A	Late Cornified Envelope 5A	Protein Coding	1
755	KRTAP15-1	Keratin Associated Protein 15-1	Protein Coding	1
756	H2BC1	H2B Clustered Histone 1	Protein Coding	1
757	COL24A1	Collagen Type XXIV Alpha 1 Chain	Protein Coding	1
758	NPNT	Nephronectin	Protein Coding	1
759	PTF1A	Pancreas Associated Transcription Factor 1a	Protein Coding	1
760	ALX3	ALX Homeobox 3	Protein Coding	1
761	KLK5	Kallikrein Related Peptidase 5	Protein Coding	1
762	CNOT10	CCR4-NOT Transcription Complex Subunit 10	Protein Coding	1
763	MYRIP	Myosin VIIA And Rab Interacting Protein	Protein Coding	1
764	ZNF521	Zinc Finger Protein 521	Protein Coding	1
765	SIN3A	SIN3 Transcription Regulator Family Member A	Protein Coding	1
766	KRT23	Keratin 23	Protein Coding	1
767	LRIG1	Leucine Rich Repeats And Immunoglobulin Like Domains 1	Protein Coding	1
768	SS18L1	SS18L1 Subunit Of BAF Chromatin Remodeling Complex	Protein Coding	1
769	KLK13	Kallikrein Related Peptidase 13	Protein Coding	1
770	LCE2B	Late Cornified Envelope 2B	Protein Coding	1
771	GATA2	GATA Binding Protein 2~Name Same As:- HGNC:18350	Protein Coding	1
772	GATA3	GATA Binding Protein 3	Protein Coding	1
773	GATA4	GATA Binding Protein 4	Protein Coding	1
774	GATA6	GATA Binding Protein 6	Protein Coding	1
775	GBX2	Gastrulation Brain Homeobox 2	Protein Coding	1
776	GCK	Glucokinase	Protein Coding	1
777	KAT2A	Lysine Acetyltransferase 2A	Protein Coding	1
778	NR6A1	Nuclear Receptor Subfamily 6 Group A Member 1	Protein Coding	1
779	AGO1	Argonaute RISC Component 1	Protein Coding	1
780	GDF1	Growth Differentiation Factor 1	Protein Coding	1
781	GREM1	Gremlin 1, DAN Family BMP Antagonist	Protein Coding	1
782	GFI1	Growth Factor Independent 1 Transcriptional Repressor	Protein Coding	1
783	AMH	Anti-Mullerian Hormone	Protein Coding	1
784	FOXD3	Forkhead Box D3	Protein Coding	1
785	GJB3	Gap Junction Protein Beta 3	Protein Coding	1
786	FOXP1	Forkhead Box P1	Protein Coding	1
787	CACNG4	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 4	Protein Coding	1
788	AGO2	Argonaute RISC Catalytic Component 2	Protein Coding	1
789	GNMT	Glycine N-Methyltransferase	Protein Coding	1
790	TNRC6A	Trinucleotide Repeat Containing Adaptor 6A	Protein Coding	1
791	ZNF638	Zinc Finger Protein 638	Protein Coding	1
792	GMPR	Guanosine Monophosphate Reductase	Protein Coding	1
793	AMY2A	Amylase Alpha 2A	Protein Coding	1
794	GP2	Glycoprotein 2	Protein Coding	1
795	TPRX1	Tetrapeptide Repeat Homeobox 1	Protein Coding	1
796	KRTAP13-4	Keratin Associated Protein 13-4	Protein Coding	1
797	STPG4	Sperm-Tail PG-Rich Repeat Containing 4	Protein Coding	1
798	DLL1	Delta Like Canonical Notch Ligand 1	Protein Coding	1
799	KRT6C	Keratin 6C	Protein Coding	1
800	MED4	Mediator Complex Subunit 4	Protein Coding	1
801	UHRF1	Ubiquitin Like With PHD And Ring Finger Domains 1	Protein Coding	1
802	CNOT7	CCR4-NOT Transcription Complex Subunit 7	Protein Coding	1
803	ANXA1	Annexin A1	Protein Coding	1
804	H2AC8	H2A Clustered Histone 8	Protein Coding	1
805	H2AC7	H2A Clustered Histone 7	Protein Coding	1
806	H2AX	H2A.X Variant Histone	Protein Coding	1
807	H2BC5	H2B Clustered Histone 5	Protein Coding	1
808	H2BC3	H2B Clustered Histone 3	Protein Coding	1
809	ANXA2	Annexin A2	Protein Coding	1
810	H3-3A	H3.3 Histone A	Protein Coding	1
811	H3-3B	H3.3 Histone B	Protein Coding	1
812	ANXA3	Annexin A3	Protein Coding	1
813	HDAC1	Histone Deacetylase 1	Protein Coding	1
814	HHEX	Hematopoietically Expressed Homeobox	Protein Coding	1
815	HINT1	Histidine Triad Nucleotide Binding Protein 1	Protein Coding	1
816	FOXA1	Forkhead Box A1	Protein Coding	1
817	FOXA2	Forkhead Box A2	Protein Coding	1
818	FOXA3	Forkhead Box A3	Protein Coding	1
819	HNF4A	Hepatocyte Nuclear Factor 4 Alpha	Protein Coding	1
820	HNF4G	Hepatocyte Nuclear Factor 4 Gamma	Protein Coding	1
821	ONECUT1	One Cut Homeobox 1	Protein Coding	1
822	KRT73	Keratin 73	Protein Coding	1
823	HNRNPU	Heterogeneous Nuclear Ribonucleoprotein U	Protein Coding	1
824	HOXA1	Homeobox A1	Protein Coding	1
825	HOXA3	Homeobox A3	Protein Coding	1
826	HOXA4	Homeobox A4	Protein Coding	1
827	HOXA6	Homeobox A6	Protein Coding	1
828	HOXA11	Homeobox A11	Protein Coding	1
829	HOXB1	Homeobox B1	Protein Coding	1
830	HOXB2	Homeobox B2	Protein Coding	1
831	HOXB3	Homeobox B3	Protein Coding	1
832	HOXB4	Homeobox B4	Protein Coding	1
833	HOXC4	Homeobox C4	Protein Coding	1
834	HOXC11	Homeobox C11	Protein Coding	1
835	HOXD1	Homeobox D1	Protein Coding	1
836	HOXD3	Homeobox D3	Protein Coding	1
837	HOXD4	Homeobox D4	Protein Coding	1
838	HOXD11	Homeobox D11	Protein Coding	1
839	HES1	Hes Family BHLH Transcription Factor 1	Protein Coding	1
840	H3C15	H3 Clustered Histone 15	Protein Coding	1
841	IAPP	Islet Amyloid Polypeptide	Protein Coding	1
842	IARS1	Isoleucyl-TRNA Synthetase 1	Protein Coding	1
843	KRTAP8-1	Keratin Associated Protein 8-1	Protein Coding	1
844	KRTAP11-1	Keratin Associated Protein 11-1	Protein Coding	1
845	KRTAP19-1	Keratin Associated Protein 19-1	Protein Coding	1
846	KRTAP13-2	Keratin Associated Protein 13-2	Protein Coding	1
847	KRTAP13-3	Keratin Associated Protein 13-3	Protein Coding	1
848	KRTAP23-1	Keratin Associated Protein 23-1	Protein Coding	1
849	KRTAP6-1	Keratin Associated Protein 6-1	Protein Coding	1
850	KRTAP6-2	Keratin Associated Protein 6-2	Protein Coding	1
851	KRTAP19-2	Keratin Associated Protein 19-2	Protein Coding	1
852	KRTAP19-3	Keratin Associated Protein 19-3	Protein Coding	1
853	KRTAP19-4	Keratin Associated Protein 19-4	Protein Coding	1
854	KRTAP19-5	Keratin Associated Protein 19-5	Protein Coding	1
855	KRTAP19-6	Keratin Associated Protein 19-6	Protein Coding	1
856	KRTAP19-7	Keratin Associated Protein 19-7	Protein Coding	1
857	KRTAP20-1	Keratin Associated Protein 20-1	Protein Coding	1
858	KRTAP20-2	Keratin Associated Protein 20-2	Protein Coding	1
859	KRTAP21-1	Keratin Associated Protein 21-1	Protein Coding	1
860	KRTAP21-2	Keratin Associated Protein 21-2	Protein Coding	1
861	KRTAP22-1	Keratin Associated Protein 22-1	Protein Coding	1
862	KRT79	Keratin 79	Protein Coding	1
863	ID1	Inhibitor Of DNA Binding 1	Protein Coding	1
864	ID4	Inhibitor Of DNA Binding 4	Protein Coding	1
865	LIPM	Lipase Family Member M	Protein Coding	1
866	KRT27	Keratin 27	Protein Coding	1
867	SYCN	Syncollin	Protein Coding	1
868	LEUTX	Leucine Twenty Homeobox	Protein Coding	1
869	AQP8	Aquaporin 8	Protein Coding	1
870	MSGN1	Mesogenin 1	Protein Coding	1
871	NOTO	Notochord Homeobox	Protein Coding	1
872	RBPJ	Recombination Signal Binding Protein For Immunoglobulin Kappa J Region	Protein Coding	1
873	LCE1A	Late Cornified Envelope 1A	Protein Coding	1
874	LCE1B	Late Cornified Envelope 1B	Protein Coding	1
875	LCE1C	Late Cornified Envelope 1C	Protein Coding	1
876	LCE1D	Late Cornified Envelope 1D	Protein Coding	1
877	LCE1E	Late Cornified Envelope 1E	Protein Coding	1
878	LCE1F	Late Cornified Envelope 1F	Protein Coding	1
879	LCE2A	Late Cornified Envelope 2A	Protein Coding	1
880	LCE2C	Late Cornified Envelope 2C	Protein Coding	1
881	LCE2D	Late Cornified Envelope 2D	Protein Coding	1
882	LCE3A	Late Cornified Envelope 3A	Protein Coding	1
883	LCE3B	Late Cornified Envelope 3B	Protein Coding	1
884	LCE3C	Late Cornified Envelope 3C	Protein Coding	1
885	LCE3E	Late Cornified Envelope 3E	Protein Coding	1
886	KRT26	Keratin 26	Protein Coding	1
887	KRTAP12-2	Keratin Associated Protein 12-2	Protein Coding	1
888	KRTAP12-1	Keratin Associated Protein 12-1	Protein Coding	1
889	KRTAP10-10	Keratin Associated Protein 10-10	Protein Coding	1
890	IHH	Indian Hedgehog Signaling Molecule	Protein Coding	1
891	IL6R	Interleukin 6 Receptor	Protein Coding	1
892	AQP1	Aquaporin 1 (Colton Blood Group)	Protein Coding	1
893	DPPA3	Developmental Pluripotency Associated 3	Protein Coding	1
894	AQP3	Aquaporin 3 (Gill Blood Group)	Protein Coding	1
895	INS	Insulin	Protein Coding	1
896	INSM1	INSM Transcriptional Repressor 1	Protein Coding	1
897	PDX1	Pancreatic And Duodenal Homeobox 1	Protein Coding	1
898	ITGA6	Integrin Subunit Alpha 6	Protein Coding	1
899	IRF4	Interferon Regulatory Factor 4	Protein Coding	1
900	ITGB4	Integrin Subunit Beta 4	Protein Coding	1
901	IVL	Involucrin	Protein Coding	1
902	JUN	Jun Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	1
903	JUP	Junction Plakoglobin	Protein Coding	1
904	KARS1	Lysyl-TRNA Synthetase 1	Protein Coding	1
905	AREG	Amphiregulin	Protein Coding	1
906	KRT77	Keratin 77	Protein Coding	1
907	SBSN	Suprabasin	Protein Coding	1
908	KIT	KIT Proto-Oncogene, Receptor Tyrosine Kinase	Protein Coding	1
909	KLK1	Kallikrein 1	Protein Coding	1
910	KRTAP5-9	Keratin Associated Protein 5-9	Protein Coding	1
911	KRT1	Keratin 1	Protein Coding	1
912	KRT2	Keratin 2	Protein Coding	1
913	KRT3	Keratin 3	Protein Coding	1
914	KRT4	Keratin 4	Protein Coding	1
915	KRT5	Keratin 5	Protein Coding	1
916	KRT6A	Keratin 6A	Protein Coding	1
917	KRT6B	Keratin 6B	Protein Coding	1
918	KRT7	Keratin 7	Protein Coding	1
919	KRT8	Keratin 8	Protein Coding	1
920	KRT9	Keratin 9	Protein Coding	1
921	KRT10	Keratin 10	Protein Coding	1
922	KRT12	Keratin 12	Protein Coding	1
923	KRT13	Keratin 13	Protein Coding	1
924	KRT14	Keratin 14	Protein Coding	1
925	KRT15	Keratin 15	Protein Coding	1
926	KRTAP10-4	Keratin Associated Protein 10-4	Protein Coding	1
927	KRTAP10-6	Keratin Associated Protein 10-6	Protein Coding	1
928	KRTAP10-7	Keratin Associated Protein 10-7	Protein Coding	1
929	KRTAP10-9	Keratin Associated Protein 10-9	Protein Coding	1
930	KRTAP10-1	Keratin Associated Protein 10-1	Protein Coding	1
931	KRTAP10-11	Keratin Associated Protein 10-11	Protein Coding	1
932	KRTAP10-2	Keratin Associated Protein 10-2	Protein Coding	1
933	KRTAP10-5	Keratin Associated Protein 10-5	Protein Coding	1
934	KRTAP10-8	Keratin Associated Protein 10-8	Protein Coding	1
935	KRTAP10-3	Keratin Associated Protein 10-3	Protein Coding	1
936	KRTAP12-3	Keratin Associated Protein 12-3	Protein Coding	1
937	KRTAP12-4	Keratin Associated Protein 12-4	Protein Coding	1
938	KRTAP10-12	Keratin Associated Protein 10-12	Protein Coding	1
939	KRT16	Keratin 16	Protein Coding	1
940	KRT17	Keratin 17	Protein Coding	1
941	KRTAP5-1	Keratin Associated Protein 5-1	Protein Coding	1
942	KRTAP5-3	Keratin Associated Protein 5-3	Protein Coding	1
943	KRTAP5-4	Keratin Associated Protein 5-4	Protein Coding	1
944	KRTAP5-10	Keratin Associated Protein 5-10	Protein Coding	1
945	TBPL2	TATA-Box Binding Protein Like 2	Protein Coding	1
946	KRT18	Keratin 18	Protein Coding	1
947	KRT19	Keratin 19	Protein Coding	1
948	KRT31	Keratin 31	Protein Coding	1
949	KRT32	Keratin 32	Protein Coding	1
950	KRT33A	Keratin 33A	Protein Coding	1
951	KRT33B	Keratin 33B	Protein Coding	1
952	KRT34	Keratin 34	Protein Coding	1
953	KRTDAP	Keratinocyte Differentiation Associated Protein	Protein Coding	1
954	KRT35	Keratin 35	Protein Coding	1
955	KRT81	Keratin 81	Protein Coding	1
956	KRT82	Keratin 82	Protein Coding	1
957	KRTAP26-1	Keratin Associated Protein 26-1	Protein Coding	1
958	KRT83	Keratin 83	Protein Coding	1
959	KRT84	Keratin 84	Protein Coding	1
960	KRT85	Keratin 85	Protein Coding	1
961	KRT86	Keratin 86	Protein Coding	1
962	MAFA	MAF BZIP Transcription Factor A	Protein Coding	1
963	KDM4E	Lysine Demethylase 4E	Protein Coding	1
964	PABPN1L	PABPN1 Like, Cytoplasmic	Protein Coding	1
965	KRT39	Keratin 39	Protein Coding	1
966	ONECUT3	One Cut Homeobox 3	Protein Coding	1
967	LAMA3	Laminin Subunit Alpha 3	Protein Coding	1
968	LAMA4	Laminin Subunit Alpha 4	Protein Coding	1
969	LAMA5	Laminin Subunit Alpha 5	Protein Coding	1
970	LAMB2	Laminin Subunit Beta 2	Protein Coding	1
971	LAMB3	Laminin Subunit Beta 3	Protein Coding	1
972	LAMC2	Laminin Subunit Gamma 2	Protein Coding	1
973	LEP	Leptin	Protein Coding	1
974	LFNG	LFNG O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase	Protein Coding	1
975	LGALS7	Galectin 7	Protein Coding	1
976	LHX1	LIM Homeobox 1	Protein Coding	1
977	LIG1	DNA Ligase 1	Protein Coding	1
978	MED11	Mediator Complex Subunit 11	Protein Coding	1
979	LORICRIN	Loricrin Cornified Envelope Precursor Protein	Protein Coding	1
980	LPL	Lipoprotein Lipase	Protein Coding	1
981	SPINK6	Serine Peptidase Inhibitor Kazal Type 6	Protein Coding	1
982	EPCAM	Epithelial Cell Adhesion Molecule	Protein Coding	1
983	SMAD1	SMAD Family Member 1	Protein Coding	1
984	SMAD2	SMAD Family Member 2	Protein Coding	1
985	SMAD3	SMAD Family Member 3	Protein Coding	1
986	SMAD4	SMAD Family Member 4	Protein Coding	1
987	MARK3	Microtubule Affinity Regulating Kinase 3	Protein Coding	1
988	MARS1	Methionyl-TRNA Synthetase 1	Protein Coding	1
989	MC1R	Melanocortin 1 Receptor	Protein Coding	1
990	MC3R	Melanocortin 3 Receptor	Protein Coding	1
991	MC4R	Melanocortin 4 Receptor	Protein Coding	1
992	MC5R	Melanocortin 5 Receptor	Protein Coding	1
993	MCM2	Minichromosome Maintenance Complex Component 2	Protein Coding	1
994	MCM5	Minichromosome Maintenance Complex Component 5	Protein Coding	1
995	ADAM11	ADAM Metallopeptidase Domain 11	Protein Coding	1
996	MEF2A	Myocyte Enhancer Factor 2A	Protein Coding	1
997	BORCS8-MEF2B	BORCS8-MEF2B Readthrough	Protein Coding	1
998	MEF2C	Myocyte Enhancer Factor 2C	Protein Coding	1
999	MEF2D	Myocyte Enhancer Factor 2D	Protein Coding	1
1000	MEIS1	Meis Homeobox 1	Protein Coding	1
1001	KITLG	KIT Ligand	Protein Coding	1
1002	ASAH1	N-Acylsphingosine Amidohydrolase 1	Protein Coding	1
1003	MITF	Melanocyte Inducing Transcription Factor	Protein Coding	1
1004	KMT2A	Lysine Methyltransferase 2A	Protein Coding	1
1005	FOXO4	Forkhead Box O4	Protein Coding	1
1006	TRPM1	Transient Receptor Potential Cation Channel Subfamily M Member 1	Protein Coding	1
1007	MME	Membrane Metalloendopeptidase	Protein Coding	1
1008	MOV10	Mov10 RNA Helicase	Protein Coding	1
1009	KLK14	Kallikrein Related Peptidase 14	Protein Coding	1
1010	KLK12	Kallikrein Related Peptidase 12	Protein Coding	1
1011	KRTAP5-5	Keratin Associated Protein 5-5	Protein Coding	1
1012	KRTAP5-2	Keratin Associated Protein 5-2	Protein Coding	1
1013	KRTAP5-6	Keratin Associated Protein 5-6	Protein Coding	1
1014	KRTAP5-7	Keratin Associated Protein 5-7	Protein Coding	1
1015	KRTAP5-11	Keratin Associated Protein 5-11	Protein Coding	1
1016	MSX1	Msh Homeobox 1	Protein Coding	1
1017	KPRP	Keratinocyte Proline Rich Protein	Protein Coding	1
1018	LCE6A	Late Cornified Envelope 6A	Protein Coding	1
1019	MYB	MYB Proto-Oncogene, Transcription Factor	Protein Coding	1
1020	MYC	MYC Proto-Oncogene, BHLH Transcription Factor	Protein Coding	1
1021	MYF5	Myogenic Factor 5	Protein Coding	1
1022	MYF6	Myogenic Factor 6	Protein Coding	1
1023	MYO5A	Myosin VA	Protein Coding	1
1024	MYOD1	Myogenic Differentiation 1	Protein Coding	1
1025	MYOG	Myogenin	Protein Coding	1
1026	H2AB1	H2A.B Variant Histone 1	Protein Coding	1
1027	NEUROD1	Neuronal Differentiation 1	Protein Coding	1
1028	NFKB1	Nuclear Factor Kappa B Subunit 1	Protein Coding	1
1029	NKX2-2	NK2 Homeobox 2	Protein Coding	1
1030	NKX6-1	NK6 Homeobox 1	Protein Coding	1
1031	NODAL	Nodal Growth Differentiation Factor	Protein Coding	1
1032	CNOT2	CCR4-NOT Transcription Complex Subunit 2	Protein Coding	1
1033	CNOT3	CCR4-NOT Transcription Complex Subunit 3	Protein Coding	1
1034	CNOT4	CCR4-NOT Transcription Complex Subunit 4	Protein Coding	1
1035	NOTCH1	Notch Receptor 1	Protein Coding	1
1036	NTN3	Netrin 3	Protein Coding	1
1037	GPR143	G Protein-Coupled Receptor 143	Protein Coding	1
1038	OTX2	Orthodenticle Homeobox 2	Protein Coding	1
1039	TPRX2	Tetrapeptide Repeat Homeobox 2	Protein Coding	1
1040	DUXA	Double Homeobox A	Protein Coding	1
1041	FURIN	Furin, Paired Basic Amino Acid Cleaving Enzyme	Protein Coding	1
1042	PCSK6	Proprotein Convertase Subtilisin/Kexin Type 6	Protein Coding	1
1043	SERPINE1	Serpin Family E Member 1	Protein Coding	1
1044	NEUROG3	Neurogenin 3	Protein Coding	1
1045	PAX2	Paired Box 2	Protein Coding	1
1046	PAX3	Paired Box 3	Protein Coding	1
1047	PAX6	Paired Box 6	Protein Coding	1
1048	PAX7	Paired Box 7	Protein Coding	1
1049	DHH	Desert Hedgehog Signaling Molecule	Protein Coding	1
1050	PBX1	PBX Homeobox 1	Protein Coding	1
1051	CDON	Cell Adhesion Associated, Oncogene Regulated	Protein Coding	1
1052	MED31	Mediator Complex Subunit 31	Protein Coding	1
1053	PCK1	Phosphoenolpyruvate Carboxykinase 1	Protein Coding	1
1054	ANGPTL4	Angiopoietin Like 4	Protein Coding	1
1055	LEF1	Lymphoid Enhancer Binding Factor 1	Protein Coding	1
1056	PLAC8	Placenta Associated 8	Protein Coding	1
1057	KRT76	Keratin 76	Protein Coding	1
1058	LARS1	Leucyl-TRNA Synthetase 1	Protein Coding	1
1059	MED15	Mediator Complex Subunit 15	Protein Coding	1
1060	TRIM33	Tripartite Motif Containing 33	Protein Coding	1
1061	ATP6V1H	ATPase H+ Transporting V1 Subunit H	Protein Coding	1
1062	CALML5	Calmodulin Like 5	Protein Coding	1
1063	ATP6V1A	ATPase H+ Transporting V1 Subunit A	Protein Coding	1
1064	ATP6V1B2	ATPase H+ Transporting V1 Subunit B2	Protein Coding	1
1065	PI3	Peptidase Inhibitor 3	Protein Coding	1
1066	SERPINA4	Serpin Family A Member 4	Protein Coding	1
1067	ATP6V0C	ATPase H+ Transporting V0 Subunit C	Protein Coding	1
1068	ATP6V1C1	ATPase H+ Transporting V1 Subunit C1	Protein Coding	1
1069	ATP6V1E1	ATPase H+ Transporting V1 Subunit E1	Protein Coding	1
1070	PKLR	Pyruvate Kinase L/R	Protein Coding	1
1071	PKNOX1	PBX/Knotted 1 Homeobox 1	Protein Coding	1
1072	PKP2	Plakophilin 2	Protein Coding	1
1073	PLA2G1B	Phospholipase A2 Group IB	Protein Coding	1
1074	ATP6V0B	ATPase H+ Transporting V0 Subunit B	Protein Coding	1
1075	PLIN1	Perilipin 1	Protein Coding	1
1076	PLK1	Polo Like Kinase 1	Protein Coding	1
1077	MBD3	Methyl-CpG Binding Domain Protein 3	Protein Coding	1
1078	ADAM22	ADAM Metallopeptidase Domain 22	Protein Coding	1
1079	PML	PML Nuclear Body Scaffold	Protein Coding	1
1080	PNLIP	Pancreatic Lipase	Protein Coding	1
1081	PNLIPRP2	Pancreatic Lipase Related Protein 2 (Gene/Pseudogene)	Protein Coding	1
1082	H2BC12L	H2B Clustered Histone 12 Like	Protein Coding	1
1083	POLR2A	RNA Polymerase II Subunit A	Protein Coding	1
1084	POLR2B	RNA Polymerase II Subunit B	Protein Coding	1
1085	POLR2C	RNA Polymerase II Subunit C	Protein Coding	1
1086	POLR2D	RNA Polymerase II Subunit D	Protein Coding	1
1087	POLR2E	RNA Polymerase II, I And III Subunit E	Protein Coding	1
1088	POLR2F	RNA Polymerase II, I And III Subunit F	Protein Coding	1
1089	POLR2G	RNA Polymerase II Subunit G	Protein Coding	1
1090	WNT4	Wnt Family Member 4	Protein Coding	1
1091	POLR2H	RNA Polymerase II, I And III Subunit H	Protein Coding	1
1092	POLR2I	RNA Polymerase II Subunit I	Protein Coding	1
1093	POLR2J	RNA Polymerase II Subunit J	Protein Coding	1
1094	POLR2K	RNA Polymerase II, I And III Subunit K	Protein Coding	1
1095	POLR2L	RNA Polymerase II, I And III Subunit L	Protein Coding	1
1096	POMC	Proopiomelanocortin	Protein Coding	1
1097	KRT20	Keratin 20	Protein Coding	1
1098	POU3F3	POU Class 3 Homeobox 3	Protein Coding	1
1099	POU5F1	POU Class 5 Homeobox 1	Protein Coding	1
1100	PPARA	Peroxisome Proliferator Activated Receptor Alpha	Protein Coding	1
1101	PPARG	Peroxisome Proliferator Activated Receptor Gamma	Protein Coding	1
1102	MED1	Mediator Complex Subunit 1	Protein Coding	1
1103	BTG4	BTG Anti-Proliferation Factor 4	Protein Coding	1
1104	MED18	Mediator Complex Subunit 18	Protein Coding	1
1105	GATAD2A	GATA Zinc Finger Domain Containing 2A	Protein Coding	1
1106	SYTL2	Synaptotagmin Like 2	Protein Coding	1
1107	PPL	Periplakin	Protein Coding	1
1108	MED9	Mediator Complex Subunit 9	Protein Coding	1
1109	LGI2	Leucine Rich Repeat LGI Family Member 2	Protein Coding	1
1110	DPPA4	Developmental Pluripotency Associated 4	Protein Coding	1
1111	H4C15	H4 Clustered Histone 15	Protein Coding	1
1112	MAML3	Mastermind Like Transcriptional Coactivator 3	Protein Coding	1
1113	CNOT11	CCR4-NOT Transcription Complex Subunit 11	Protein Coding	1
1114	MED29	Mediator Complex Subunit 29	Protein Coding	1
1115	H2AJ	H2A.J Histone	Protein Coding	1
1116	MESP1	Mesoderm Posterior BHLH Transcription Factor 1	Protein Coding	1
1117	CFC1	Cryptic, EGF-CFC Family Member 1	Protein Coding	1
1118	MAPK11	Mitogen-Activated Protein Kinase 11	Protein Coding	1
1119	MAP2K6	Mitogen-Activated Protein Kinase Kinase 6	Protein Coding	1
1120	PRM1	Protamine 1	Protein Coding	1
1121	PRM2	Protamine 2	Protein Coding	1
1122	PRSS1	Serine Protease 1	Protein Coding	1
1123	PRSS3	Serine Protease 3	Protein Coding	1
1124	KLK7	Kallikrein Related Peptidase 7	Protein Coding	1
1125	PRSS8	Serine Protease 8	Protein Coding	1
1126	TBX20	T-Box Transcription Factor 20	Protein Coding	1
1127	SALL4	Spalt Like Transcription Factor 4	Protein Coding	1
1128	PTGDS	Prostaglandin D2 Synthase	Protein Coding	1
1129	AICDA	Activation Induced Cytidine Deaminase	Protein Coding	1
1130	GATAD2B	GATA Zinc Finger Domain Containing 2B	Protein Coding	1
1131	CNOT6	CCR4-NOT Transcription Complex Subunit 6	Protein Coding	1
1132	ARID1B	AT-Rich Interaction Domain 1B	Protein Coding	1
1133	MTA3	Metastasis Associated 1 Family Member 3	Protein Coding	1
1134	PCDH19	Protocadherin 19	Protein Coding	1
1135	TNRC6C	Trinucleotide Repeat Containing Adaptor 6C	Protein Coding	1
1136	KRTAP5-8	Keratin Associated Protein 5-8	Protein Coding	1
1137	PXN	Paxillin	Protein Coding	1
1138	KMT2C	Lysine Methyltransferase 2C	Protein Coding	1
1139	QARS1	Glutaminyl-TRNA Synthetase 1	Protein Coding	1
1140	RAB27A	RAB27A, Member RAS Oncogene Family	Protein Coding	1
1141	ACTA2	Actin Alpha 2, Smooth Muscle	Protein Coding	1
1142	RARA	Retinoic Acid Receptor Alpha	Protein Coding	1
1143	RARB	Retinoic Acid Receptor Beta	Protein Coding	1
1144	RARG	Retinoic Acid Receptor Gamma	Protein Coding	1
1145	RARS1	Arginyl-TRNA Synthetase 1	Protein Coding	1
1146	KDM5A	Lysine Demethylase 5A	Protein Coding	1
1147	RBBP4	RB Binding Protein 4, Chromatin Remodeling Factor	Protein Coding	1
1148	CACNG8	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 8	Protein Coding	1
1149	RBBP5	RB Binding Protein 5, Histone Lysine Methyltransferase Complex Subunit	Protein Coding	1
1150	RBBP7	RB Binding Protein 7, Chromatin Remodeling Factor	Protein Coding	1
1151	CCND1	Cyclin D1	Protein Coding	1
1152	BCL2	BCL2 Apoptosis Regulator	Protein Coding	1
1153	REG1A	Regenerating Family Member 1 Alpha	Protein Coding	1
1154	BCL2A1	BCL2 Related Protein A1	Protein Coding	1
1155	RELA	RELA Proto-Oncogene, NF-KB Subunit	Protein Coding	1
1156	DPF2	Double PHD Fingers 2	Protein Coding	1
1157	RNASE1	Ribonuclease A Family Member 1, Pancreatic	Protein Coding	1
1158	BCL7A	BAF Chromatin Remodeling Complex Subunit BCL7A	Protein Coding	1
1159	RXRA	Retinoid X Receptor Alpha	Protein Coding	1
1160	SALL1	Spalt Like Transcription Factor 1	Protein Coding	1
1161	MAPK12	Mitogen-Activated Protein Kinase 12	Protein Coding	1
1162	CELA2A	Chymotrypsin Like Elastase 2A	Protein Coding	1
1163	CEACAM1	CEA Cell Adhesion Molecule 1	Protein Coding	1
1164	ZNF335	Zinc Finger Protein 335	Protein Coding	1
1165	PRDM16	PR/SET Domain 16	Protein Coding	1
1166	PRDM14	PR/SET Domain 14	Protein Coding	1
1167	PERP	P53 Apoptosis Effector Related To PMP22	Protein Coding	1
1168	SOX17	SRY-Box Transcription Factor 17	Protein Coding	1
1169	SPINK9	Serine Peptidase Inhibitor Kazal Type 9	Protein Coding	1
1170	LIPK	Lipase Family Member K	Protein Coding	1
1171	LIPN	Lipase Family Member N	Protein Coding	1
1172	HIF3A	Hypoxia Inducible Factor 3 Subunit Alpha	Protein Coding	1
1173	KRTAP24-1	Keratin Associated Protein 24-1	Protein Coding	1
1174	KRTAP27-1	Keratin Associated Protein 27-1	Protein Coding	1
1175	EBF2	EBF Transcription Factor 2	Protein Coding	1
1176	SHH	Sonic Hedgehog Signaling Molecule	Protein Coding	1
1177	PDIA2	Protein Disulfide Isomerase Family A Member 2	Protein Coding	1
1178	PMEL	Premelanosome Protein	Protein Coding	1
1179	SIX1	SIX Homeobox 1	Protein Coding	1
1180	SLC2A2	Solute Carrier Family 2 Member 2	Protein Coding	1
1181	SLC2A4	Solute Carrier Family 2 Member 4	Protein Coding	1
1182	BMP4	Bone Morphogenetic Protein 4	Protein Coding	1
1183	KRTAP4-11	Keratin Associated Protein 4-11	Protein Coding	1
1184	LGALS7B	Galectin 7B	Protein Coding	1
1185	H3C13	H3 Clustered Histone 13	Protein Coding	1
1186	BMP7	Bone Morphogenetic Protein 7	Protein Coding	1
1187	SNAI2	Snail Family Transcriptional Repressor 2	Protein Coding	1
1188	SMARCA2	SWI/SNF Related BAF Chromatin Remodeling Complex Subunit ATPase 2	Protein Coding	1
1189	SMARCB1	SWI/SNF Related BAF Chromatin Remodeling Complex Subunit B1	Protein Coding	1
1190	SMARCC1	SWI/SNF Related BAF Chromatin Remodeling Complex Subunit C1	Protein Coding	1
1191	SMARCC2	SWI/SNF Related BAF Chromatin Remodeling Complex Subunit C2	Protein Coding	1
1192	SMARCD1	SWI/SNF Related BAF Chromatin Remodeling Complex Subunit D1	Protein Coding	1
1193	SMARCD2	SWI/SNF Related BAF Chromatin Remodeling Complex Subunit D2	Protein Coding	1
1194	SMARCD3	SWI/SNF Related BAF Chromatin Remodeling Complex Subunit D3	Protein Coding	1
1195	SMARCE1	SWI/SNF Related BAF Chromatin Remodeling Complex Subunit E1	Protein Coding	1
1196	SNAI1	Snail Family Transcriptional Repressor 1	Protein Coding	1
1197	BNIP2	BCL2 Interacting Protein 2	Protein Coding	1
1198	SOX1	SRY-Box Transcription Factor 1	Protein Coding	1
1199	SOX2	SRY-Box Transcription Factor 2	Protein Coding	1
1200	SOX9	SRY-Box Transcription Factor 9	Protein Coding	1
1201	SPI1	Spi-1 Proto-Oncogene	Protein Coding	1
1202	SPINK1	Serine Peptidase Inhibitor Kazal Type 1	Protein Coding	1
1203	SPRR1A	Small Proline Rich Protein 1A	Protein Coding	1
1204	SPRR1B	Small Proline Rich Protein 1B	Protein Coding	1
1205	SPRR2A	Small Proline Rich Protein 2A	Protein Coding	1
1206	SPRR2B	Small Proline Rich Protein 2B	Protein Coding	1
1207	SPRR2D	Small Proline Rich Protein 2D	Protein Coding	1
1208	SPRR2E	Small Proline Rich Protein 2E	Protein Coding	1
1209	SPRR2F	Small Proline Rich Protein 2F	Protein Coding	1
1210	SPRR2G	Small Proline Rich Protein 2G	Protein Coding	1
1211	SPRR3	Small Proline Rich Protein 3	Protein Coding	1
1212	BRCA1	BRCA1 DNA Repair Associated	Protein Coding	1
1213	SREBF1	Sterol Regulatory Element Binding Transcription Factor 1	Protein Coding	1
1214	SRF	Serum Response Factor	Protein Coding	1
1215	SRPK1	SRSF Protein Kinase 1	Protein Coding	1
1216	SRY	Sex Determining Region Y	Protein Coding	1
1217	SS18	SS18 Subunit Of BAF Chromatin Remodeling Complex	Protein Coding	1
1218	ST14	ST14 Transmembrane Serine Protease Matriptase	Protein Coding	1
1219	STAT3	Signal Transducer And Activator Of Transcription 3	Protein Coding	1
1220	ZFP36L2	ZFP36 Ring Finger Protein Like 2	Protein Coding	1
1221	STX1A	Syntaxin 1A	Protein Coding	1
1222	MED22	Mediator Complex Subunit 22	Protein Coding	1
1223	TBXT	T-Box Transcription Factor T	Protein Coding	1
1224	KLF5	KLF Transcription Factor 5	Protein Coding	1
1225	TAL1	TAL BHLH Transcription Factor 1, Erythroid Differentiation Factor	Protein Coding	1
1226	TBX1	T-Box Transcription Factor 1	Protein Coding	1
1227	TBL1X	Transducin Beta Like 1 X-Linked	Protein Coding	1
1228	TBX2	T-Box Transcription Factor 2	Protein Coding	1
1229	TBX5	T-Box Transcription Factor 5	Protein Coding	1
1230	TBX6	T-Box Transcription Factor 6	Protein Coding	1
1231	TCF4	Transcription Factor 4	Protein Coding	1
1232	TBX3	T-Box Transcription Factor 3	Protein Coding	1
1233	HNF1A	HNF1 Homeobox A	Protein Coding	1
1234	HNF1B	HNF1 Homeobox B	Protein Coding	1
1235	TCF3	Transcription Factor 3	Protein Coding	1
1236	TCF7	Transcription Factor 7	Protein Coding	1
1237	TCF7L2	Transcription Factor 7 Like 2	Protein Coding	1
1238	ZEB1	Zinc Finger E-Box Binding Homeobox 1	Protein Coding	1
1239	TCF12	Transcription Factor 12	Protein Coding	1
1240	CRIPTO	Cripto, EGF-CFC Family Member	Protein Coding	1
1241	CRIPTO3	Cripto, EGF-CFC Family Member 3	Protein Coding	1
1242	TEAD4	TEA Domain Transcription Factor 4	Protein Coding	1
1243	TERT	Telomerase Reverse Transcriptase	Protein Coding	1
1244	TFAP2A	Transcription Factor AP-2 Alpha	Protein Coding	1
1245	TFAP2B	Transcription Factor AP-2 Beta	Protein Coding	1
1246	TFAP2C	Transcription Factor AP-2 Gamma	Protein Coding	1
1247	NR2F2	Nuclear Receptor Subfamily 2 Group F Member 2	Protein Coding	1
1248	TFDP1	Transcription Factor Dp-1	Protein Coding	1
1249	TFDP2	Transcription Factor Dp-2	Protein Coding	1
1250	TFE3	Transcription Factor Binding To IGHM Enhancer 3	Protein Coding	1
1251	TFRC	Transferrin Receptor	Protein Coding	1
1252	TGFA	Transforming Growth Factor Alpha	Protein Coding	1
1253	TGFB1	Transforming Growth Factor Beta 1	Protein Coding	1
1254	LEFTY2	Left-Right Determination Factor 2	Protein Coding	1
1255	TGM1	Transglutaminase 1	Protein Coding	1
1256	TCHH	Trichohyalin	Protein Coding	1
1257	TP53	Tumor Protein P53	Protein Coding	1
1258	H2AC19	H2A Clustered Histone 19	Protein Coding	1
1259	GXYLT2	Glucoside Xylosyltransferase 2	Protein Coding	1
1260	KRTAP4-8	Keratin Associated Protein 4-8	Protein Coding	1
1261	KRTAP1-4	Keratin Associated Protein 1-4	Protein Coding	1
1262	KRTAP2-2	Keratin Associated Protein 2-2	Protein Coding	1
1263	KRTAP19-8	Keratin Associated Protein 19-8	Protein Coding	1
1264	KRTAP9-1	Keratin Associated Protein 9-1	Protein Coding	1
1265	HIRA	Histone Cell Cycle Regulator	Protein Coding	1
1266	TYR	Tyrosinase	Protein Coding	1
1267	TYRP1	Tyrosinase Related Protein 1	Protein Coding	1
1268	KRTAP2-3	Keratin Associated Protein 2-3	Protein Coding	1
1269	UBE2I	Ubiquitin Conjugating Enzyme E2 I	Protein Coding	1
1270	SUMO1	Small Ubiquitin Like Modifier 1	Protein Coding	1
1271	UCP1	Uncoupling Protein 1	Protein Coding	1
1272	UNG	Uracil DNA Glycosylase	Protein Coding	1
1273	USF1	Upstream Transcription Factor 1	Protein Coding	1
1274	KDM6A	Lysine Demethylase 6A	Protein Coding	1
1275	VIM	Vimentin	Protein Coding	1
1276	VTN	Vitronectin	Protein Coding	1
1277	WNT1	Wnt Family Member 1	Protein Coding	1
1278	WNT10B	Wnt Family Member 10B	Protein Coding	1
1279	WNT11	Wnt Family Member 11	Protein Coding	1
1280	WNT9B	Wnt Family Member 9B	Protein Coding	1
1281	WT1	WT1 Transcription Factor	Protein Coding	1
1282	XPO1	Exportin 1	Protein Coding	1
1283	YY1	YY1 Transcription Factor	Protein Coding	1
1284	YWHAB	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Beta	Protein Coding	1
1285	YWHAE	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Epsilon	Protein Coding	1
1286	YWHAG	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Gamma	Protein Coding	1
1287	YWHAH	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Eta	Protein Coding	1
1288	YWHAZ	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Zeta	Protein Coding	1
1289	ZIC1	Zic Family Zinc Finger 1	Protein Coding	1
1290	ZIC2	Zic Family Zinc Finger 2	Protein Coding	1
1291	ZIC3	Zic Family Zinc Finger 3	Protein Coding	1
1292	CA2	Carbonic Anhydrase 2	Protein Coding	1
1293	PCGF2	Polycomb Group Ring Finger 2	Protein Coding	1
1294	PXDN	Peroxidasin	Protein Coding	1
1295	PAX8	Paired Box 8	Protein Coding	1
1296	MLPH	Melanophilin	Protein Coding	1
1297	DEK	DEK Proto-Oncogene	Protein Coding	1
1298	IRX1	Iroquois Homeobox 1	Protein Coding	1
1299	TFEB	Transcription Factor EB	Protein Coding	1
1300	BIRC7	Baculoviral IAP Repeat Containing 7	Protein Coding	1
1301	PAGR1	PAXIP1 Associated Glutamate Rich Protein 1	Protein Coding	1
1302	AIMP2	Aminoacyl TRNA Synthetase Complex Interacting Multifunctional Protein 2	Protein Coding	1
1303	TUT7	Terminal Uridylyl Transferase 7	Protein Coding	1
1304	TBL1XR1	TBL1X/Y Related 1	Protein Coding	1
1305	LIN28A	Lin-28 RNA Binding Posttranscriptional Regulator A	Protein Coding	1
1306	TFPI2	Tissue Factor Pathway Inhibitor 2	Protein Coding	1
1307	NANOG	Nanog Homeobox	Protein Coding	1
1308	CHD9	Chromodomain Helicase DNA Binding Protein 9	Protein Coding	1
1309	MED28	Mediator Complex Subunit 28	Protein Coding	1
1310	KMT2D	Lysine Methyltransferase 2D	Protein Coding	1
1311	PABPN1	Poly(A) Binding Protein Nuclear 1	Protein Coding	1
1312	DPF3	Double PHD Fingers 3	Protein Coding	1
1313	KRTAP1-3	Keratin Associated Protein 1-3	Protein Coding	1
1314	KRTAP1-1	Keratin Associated Protein 1-1	Protein Coding	1
1315	MED25	Mediator Complex Subunit 25	Protein Coding	1
1316	KRTAP9-9	Keratin Associated Protein 9-9	Protein Coding	1
1317	KRTAP4-6	Keratin Associated Protein 4-6	Protein Coding	1
1318	KRTAP2-1	Keratin Associated Protein 2-1	Protein Coding	1
1319	DPF1	Double PHD Fingers 1	Protein Coding	1
1320	NCOA3	Nuclear Receptor Coactivator 3	Protein Coding	1
1321	CAPN1	Calpain 1	Protein Coding	1
1322	CAPNS1	Calpain Small Subunit 1	Protein Coding	1
1323	ARID1A	AT-Rich Interaction Domain 1A	Protein Coding	1
1324	H4C9	H4 Clustered Histone 9	Protein Coding	1
1325	EOMES	Eomesodermin	Protein Coding	1
1326	H2AC14	H2A Clustered Histone 14	Protein Coding	1
1327	H2AC6	H2A Clustered Histone 6	Protein Coding	1
1328	H2AC4	H2A Clustered Histone 4	Protein Coding	1
1329	H2AC18	H2A Clustered Histone 18	Protein Coding	1
1330	H2AC20	H2A Clustered Histone 20	Protein Coding	1
1331	H2BC8	H2B Clustered Histone 8	Protein Coding	1
1332	H2BC13	H2B Clustered Histone 13	Protein Coding	1
1333	ELOVL3	ELOVL Fatty Acid Elongase 3	Protein Coding	1
1334	H2BC15	H2B Clustered Histone 15	Protein Coding	1
1335	H2BC14	H2B Clustered Histone 14	Protein Coding	1
1336	H2BC7	H2B Clustered Histone 7	Protein Coding	1
1337	TCF7L1	Transcription Factor 7 Like 1	Protein Coding	1
1338	H2BC6	H2B Clustered Histone 6	Protein Coding	1
1339	H2BC9	H2B Clustered Histone 9	Protein Coding	1
1340	H2BC10	H2B Clustered Histone 10	Protein Coding	1
1341	H2BC4	H2B Clustered Histone 4	Protein Coding	1
1342	H2BC17	H2B Clustered Histone 17	Protein Coding	1
1343	H2BC21	H2B Clustered Histone 21	Protein Coding	1
1344	H3C1	H3 Clustered Histone 1	Protein Coding	1
1345	H3C4	H3 Clustered Histone 4	Protein Coding	1
1346	H3C3	H3 Clustered Histone 3	Protein Coding	1
1347	H3C6	H3 Clustered Histone 6	Protein Coding	1
1348	H3C11	H3 Clustered Histone 11	Protein Coding	1
1349	H3C8	H3 Clustered Histone 8	Protein Coding	1
1350	H3C12	H3 Clustered Histone 12	Protein Coding	1
1351	H3C10	H3 Clustered Histone 10	Protein Coding	1
1352	H3C2	H3 Clustered Histone 2	Protein Coding	1
1353	H4C1	H4 Clustered Histone 1	Protein Coding	1
1354	H4C4	H4 Clustered Histone 4	Protein Coding	1
1355	H4C6	H4 Clustered Histone 6	Protein Coding	1
1356	H4C12	H4 Clustered Histone 12	Protein Coding	1
1357	H4C11	H4 Clustered Histone 11	Protein Coding	1
1358	H4C3	H4 Clustered Histone 3	Protein Coding	1
1359	H4C8	H4 Clustered Histone 8	Protein Coding	1
1360	H4C2	H4 Clustered Histone 2	Protein Coding	1
1361	H4C5	H4 Clustered Histone 5	Protein Coding	1
1362	H4C13	H4 Clustered Histone 13	Protein Coding	1
1363	H4C14	H4 Clustered Histone 14	Protein Coding	1
1364	MIXL1	Mix Paired-Like Homeobox	Protein Coding	1
1365	KRTAP1-5	Keratin Associated Protein 1-5	Protein Coding	1
1366	KRTAP3-1	Keratin Associated Protein 3-1	Protein Coding	1
1367	KRTAP3-2	Keratin Associated Protein 3-2	Protein Coding	1
1368	KRTAP9-2	Keratin Associated Protein 9-2	Protein Coding	1
1369	KRTAP9-3	Keratin Associated Protein 9-3	Protein Coding	1
1370	KRTAP9-8	Keratin Associated Protein 9-8	Protein Coding	1
1371	KRTAP17-1	Keratin Associated Protein 17-1	Protein Coding	1
1372	MED10	Mediator Complex Subunit 10	Protein Coding	1
1373	MAML2	Mastermind Like Transcriptional Coactivator 2	Protein Coding	1
1374	FAM120B	Family With Sequence Similarity 120 Member B	Protein Coding	1
1375	HOPX	HOP Homeobox	Protein Coding	1
1376	KRTAP4-4	Keratin Associated Protein 4-4	Protein Coding	1
1377	TEAD2	TEA Domain Transcription Factor 2	Protein Coding	1
1378	LCE3D	Late Cornified Envelope 3D	Protein Coding	1
1379	DPY30	Dpy-30 Histone Methyltransferase Complex Regulatory Subunit	Protein Coding	1
1380	HES7	Hes Family BHLH Transcription Factor 7	Protein Coding	1
1381	ZSCAN10	Zinc Finger And SCAN Domain Containing 10	Protein Coding	1
1382	AJUBA	Ajuba LIM Protein	Protein Coding	1
1383	PKP4	Plakophilin 4	Protein Coding	1
1384	ITGA8	Integrin Subunit Alpha 8	Protein Coding	1
1385	H2BC12	H2B Clustered Histone 12	Protein Coding	1
1386	KRTAP9-4	Keratin Associated Protein 9-4	Protein Coding	1
1387	KRTAP4-1	Keratin Associated Protein 4-1	Protein Coding	1
1388	KRTAP4-5	Keratin Associated Protein 4-5	Protein Coding	1
1389	KRTAP4-3	Keratin Associated Protein 4-3	Protein Coding	1
1390	KRTAP4-2	Keratin Associated Protein 4-2	Protein Coding	1
1391	KRTAP3-3	Keratin Associated Protein 3-3	Protein Coding	1
1392	KRTAP2-4	Keratin Associated Protein 2-4	Protein Coding	1
1393	COL27A1	Collagen Type XXVII Alpha 1 Chain	Protein Coding	1
1394	HELZ2	Helicase With Zinc Finger 2	Protein Coding	1
1395	TNKS1BP1	Tankyrase 1 Binding Protein 1	Protein Coding	1
1396	ACTL6A	Actin Like 6A	Protein Coding	1
1397	TNFSF11	TNF Superfamily Member 11	Protein Coding	1
1398	RUNX1	RUNX Family Transcription Factor 1	Protein Coding	1
1399	NCOA1	Nuclear Receptor Coactivator 1	Protein Coding	1
1400	CBFB	Core-Binding Factor Subunit Beta	Protein Coding	1
1401	SLC4A4	Solute Carrier Family 4 Member 4	Protein Coding	1
1402	KRT38	Keratin 38	Protein Coding	1
1403	KRT37	Keratin 37	Protein Coding	1
1404	KRT36	Keratin 36	Protein Coding	1
1405	EED	Embryonic Ectoderm Development	Protein Coding	1
1406	ADAM23	ADAM Metallopeptidase Domain 23	Protein Coding	1
1407	HDAC3	Histone Deacetylase 3	Protein Coding	1
1408	PROM1	Prominin 1	Protein Coding	1
1409	KAT2B	Lysine Acetyltransferase 2B	Protein Coding	1
1410	CCNB1	Cyclin B1	Protein Coding	1
1411	CCNC	Cyclin C	Protein Coding	1
1412	FOXH1	Forkhead Box H1	Protein Coding	1
1413	CCND3	Cyclin D3	Protein Coding	1
1414	H3C7	H3 Clustered Histone 7	Protein Coding	1
1415	H2BC11	H2B Clustered Histone 11	Protein Coding	1
1416	WNT3A	Wnt Family Member 3A	Protein Coding	1
1417	ATP6V0E1	ATPase H+ Transporting V0 Subunit E1	Protein Coding	1
1418	MED30	Mediator Complex Subunit 30	Protein Coding	1
1419	SPAG9	Sperm Associated Antigen 9	Protein Coding	1
1420	PIAS2	Protein Inhibitor Of Activated STAT 2	Protein Coding	1
1421	ASH2L	ASH2 Like, Histone Lysine Methyltransferase Complex Subunit	Protein Coding	1
1422	CLDN10	Claudin 10	Protein Coding	1
1423	ACVR1B	Activin A Receptor Type 1B	Protein Coding	1
1424	MTA1	Metastasis Associated 1	Protein Coding	1
1425	ATP6V0D1	ATPase H+ Transporting V0 Subunit D1	Protein Coding	1
1426	KRT75	Keratin 75	Protein Coding	1
1427	CNOT9	CCR4-NOT Transcription Complex Subunit 9	Protein Coding	1
1428	BOC	BOC Cell Adhesion Associated, Oncogene Regulated	Protein Coding	1
1429	ACVR2A	Activin A Receptor Type 2A	Protein Coding	1
1430	LGI1	Leucine Rich Glioma Inactivated 1	Protein Coding	1
1431	MTA2	Metastasis Associated 1 Family Member 2	Protein Coding	1
1432	NOG	Noggin	Protein Coding	1
1433	AIMP1	Aminoacyl TRNA Synthetase Complex Interacting Multifunctional Protein 1	Protein Coding	1
1434	BCL7C	BAF Chromatin Remodeling Complex Subunit BCL7C	Protein Coding	1
1435	BCL7B	BAF Chromatin Remodeling Complex Subunit BCL7B	Protein Coding	1
1436	MED14	Mediator Complex Subunit 14	Protein Coding	1
1437	ACVR2B	Activin A Receptor Type 2B	Protein Coding	1
1438	DMKN	Dermokine	Protein Coding	1
1439	KLF4	KLF Transcription Factor 4	Protein Coding	1
1440	TGM5	Transglutaminase 5	Protein Coding	1
1441	CNOT8	CCR4-NOT Transcription Complex Subunit 8	Protein Coding	1
1442	CER1	Cerberus 1, DAN Family BMP Antagonist	Protein Coding	1
1443	MYOCD	Myocardin	Protein Coding	1
1444	ADIPOQ	Adiponectin, C1Q And Collagen Domain Containing	Protein Coding	1
1445	MED21	Mediator Complex Subunit 21	Protein Coding	1
1446	HAND1	Heart And Neural Crest Derivatives Expressed 1	Protein Coding	1
1447	H2AZ2	H2A.Z Variant Histone 2	Protein Coding	1
1448	ABCG2	ATP Binding Cassette Subfamily G Member 2 (JR Blood Group)	Protein Coding	1
1449	MED23	Mediator Complex Subunit 23	Protein Coding	1
1450	MED17	Mediator Complex Subunit 17	Protein Coding	1
1451	MED26	Mediator Complex Subunit 26	Protein Coding	1
1452	MED27	Mediator Complex Subunit 27	Protein Coding	1
1453	MED7	Mediator Complex Subunit 7	Protein Coding	1
1454	HAND2	Heart And Neural Crest Derivatives Expressed 2	Protein Coding	1
1455	MED20	Mediator Complex Subunit 20	Protein Coding	1
1456	CD36	CD36 Molecule (CD36 Blood Group)	Protein Coding	1
1457	EEF1E1	Eukaryotic Translation Elongation Factor 1 Epsilon 1	Protein Coding	1
1458	ATP6V1G1	ATPase H+ Transporting V1 Subunit G1	Protein Coding	1
1459	CD44	CD44 Molecule (IN Blood Group)	Protein Coding	1
1460	NCOR1	Nuclear Receptor Corepressor 1	Protein Coding	1
1461	NCOR2	Nuclear Receptor Corepressor 2	Protein Coding	1
1462	TGS1	Trimethylguanosine Synthase 1	Protein Coding	1
1463	CD74	CD74 Molecule	Protein Coding	1
1464	MAML1	Mastermind Like Transcriptional Coactivator 1	Protein Coding	1
1465	ZEB2	Zinc Finger E-Box Binding Homeobox 2	Protein Coding	1
1466	MED24	Mediator Complex Subunit 24	Protein Coding	1
1467	MAFB	MAF BZIP Transcription Factor B	Protein Coding	1
1468	CDC25B	Cell Division Cycle 25B	Protein Coding	1
1469	THRAP3	Thyroid Hormone Receptor Associated Protein 3	Protein Coding	1
1470	MED12	Mediator Complex Subunit 12	Protein Coding	1
1471	MED13	Mediator Complex Subunit 13	Protein Coding	1

Disorders associated with Nervous system development SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Diamond-blackfan anemia	Enrichment	RPL11, RPL15, RPL17, RPL18, RPL26, RPL27, RPL31, RPL35, RPL35A, RPL5, RPL8, RPL9, RPS10, RPS15A, RPS17, RPS19, RPS20, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7	16.00
2	Diamond-blackfan anemia 1	Enrichment	RPL11, RPL17, RPL35A, RPL5, RPL9, RPS10, RPS17, RPS19, RPS20, RPS24, RPS26, RPS7	13.01
3	Lung non-small cell carcinoma	Enrichment	EGFR, ERBB2, HRAS, KRAS, MAP2K1, NRAS, PIK3CA	7.39
4	Noonan syndrome 1	Enrichment	HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RRAS, SOS1, SOS2	6.98
5	Waardenburg syndrome, type 2e	Enrichment	EDNRB, KITLG, MITF, POLR2F, SNAI2, SOX10, TYR	6.76
6	Noonan syndrome and noonan-related syndrome	Enrichment	HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, SOS1	6.16
7	Spondylocostal dysostosis, autosomal recessive	Enrichment	DLL3, HES7, LFNG, MESP2, RIPPLY2, TBX6	5.79
8	Capillary malformation-arteriovenous malformation 1	Enrichment	EPHB4, KRAS, MAP2K1, PIK3CA, RASA1	5.74
9	Noonan syndrome 3	Enrichment	CLTC, HRAS, KRAS, PTPN11, SOS1	5.74
10	Bladder cancer	Enrichment	ARID1A, BRCA1, CDKN1A, CDKN2A, CTNNB1, EGFR, ERBB2, HRAS, KDM6A, KRAS, PIK3CA, TERT, TP53	5.46
11	Brugada syndrome	Enrichment	CACNA1C, CACNB2, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A, SEMA3A	5.34
12	Rasopathy	Enrichment	HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, SOS1, SOS2	5.34
13	Renal agenesis, bilateral	Enrichment	EYA1, GFRA1, ITGA8, NPNT, RET, ROBO1, WNT9B	5.29
14	Tetralogy of fallot	Enrichment	EPHB4, GATA4, GATA6, GDF1, HEY2, JAG1, NKX2-5, NOTCH1, RET, ROBO1, TBX1, ZFPM2	5.24
15	Complex neurodevelopmental disorder	Enrichment	ACTL6A, AGO1, AGO2, ANK2, CACNA1C, CDK8, CNOT1, CNOT3, CNTN2, CSNK2A1, DLG4, DPYSL5, EIF4A2, GRIN2B, H4C3, H4C5, H4C9, MED13, MED27, MYH10, NRCAM, PAK3, PLXNA1, PSMD12, SCN2A, SCN8A, SIAH1, SPTBN1, TCF7L2, TIAM1, TNRC6B	5.21
16	Lissencephaly	Enrichment	ACTG1, DCX, RELN, TUBA1A, TUBA3E, TUBB2B, TUBB3	4.99
17	Arteriovenous malformation	Enrichment	EPHB4, HRAS, MAP2K1, PIK3CA, RASA1	4.99
18	Microform holoprosencephaly	Enrichment	CDON, CRIPTO, DLL1, FGF8, FGFR1, FOXH1, NODAL, SHH, ZIC2	4.94
19	Lobar holoprosencephaly	Enrichment	CDON, CRIPTO, DLL1, FGF8, FGFR1, FOXH1, NODAL, SHH, ZIC2	4.94
20	Self-limited infantile epilepsy	Enrichment	KCNQ2, KCNQ3, SCN2A, SCN8A	4.94
21	Hypertrophic neuropathy of dejerine-sottas	Enrichment	EGR2, MPZ, PMP22, PRX	4.86
22	Maturity-onset diabetes of the young	Enrichment	CEL, GCK, HNF1A, HNF1B, HNF4A, INS, NEUROD1, PDX1, PTF1A, RFX6	4.84
23	Myopathy, x-linked, with excessive autophagy	Enrichment	EPHB4, HRAS, MAP2K1, PIK3CA, RASA1	4.70
24	46,xy partial gonadal dysgenesis	Enrichment	GATA4, NR5A1, OTX2, SOS1, SOX9, SRY, WT1, ZFPM2	4.51
25	Heart, malformation of	Enrichment	CDK8, COL11A2, COL2A1, GATA4, GDF1, JAG1, MAPK1, NODAL, TBX5	4.40
26	Semilobar holoprosencephaly	Enrichment	CDON, CRIPTO, DLL1, FGF8, FGFR1, FOXH1, NODAL, SHH, ZIC2	4.40
27	West syndrome	Enrichment	DNM1, GRIN1, GRIN2B, KCNQ2, SCN1A, SCN2A, SCN8A, SPTAN1, TUBA1A	4.36
28	Coffin-siris syndrome 1	Enrichment	ARID1A, ARID1B, DPF2, SMARCA4, SMARCB1, SMARCC2, SMARCD1, SMARCE1	4.22
29	Septopreoptic holoprosencephaly	Enrichment	CDON, CRIPTO, DLL1, FGF8, FOXH1, NODAL, SHH, ZIC2	4.22
30	Midline interhemispheric variant of holoprosencephaly	Enrichment	CDON, CRIPTO, DLL1, FGF8, FOXH1, NODAL, SHH, ZIC2	4.22
31	Multiple epiphyseal dysplasia due to collagen 9 anomaly	Enrichment	COL9A1, COL9A2, COL9A3	4.22
32	Collagen vi-related dystrophies	Enrichment	COL6A1, COL6A2, COL6A3	4.22
33	Tubulinopathy-associated dysgyria	Enrichment	TUBA1A, TUBB2B, TUBB3	4.22
34	Intermediate collagen vi-related muscular dystrophy	Enrichment	COL6A1, COL6A2, COL6A3	4.22
35	Digenic alport syndrome	Enrichment	COL4A3, COL4A4, COL4A5	4.22
36	Hereditary sodium channelopathy-related small fibers neuropathy	Enrichment	SCN10A, SCN11A, SCN9A	4.22
37	Charcot-marie-tooth disease type 1	Enrichment	EGR2, MPZ, PMP22	4.16
38	Nevus, epidermal	Enrichment	HRAS, KRAS, NRAS, PIK3CA	4.12
39	Conotruncal heart malformations	Enrichment	GATA6, GDF1, NKX2-5, TBX1, ZFPM2	4.09
40	Waardenburg syndrome, type 4a	Enrichment	EDN3, EDNRB, MITF, POLR2F, SOX10	4.09
41	Waardenburg syndrome	Enrichment	EDNRB, MITF, PAX3, POLR2F, SOX10	4.09
42	Lip and oral cavity carcinoma	Enrichment	ABL1, CDKN2A, EGFR, HRAS, KIT, PIK3CA, TP53	4.08
43	Protein-deficiency anemia	Enrichment	NRAS, RPL11, RPS26, SPTA1, SPTB	4.04
44	Autosomal dominant non-syndromic intellectual disability	Enrichment	CACNA1I, CLTC, CSNK2B, DPYSL2, GRIN1, GRIN2B, ITSN1, KCNQ2, SCN8A	3.90
45	Hirschsprung disease 1	Enrichment	DSCAM, EDN3, EDNRB, ERBB2, GDNF, IHH, NRTN, POLR2F, RET, SOX10, SREBF1	3.90
46	Pachyonychia congenita 1	Enrichment	KRT16, KRT17, KRT6A, KRT6B	3.86
47	Monilethrix	Enrichment	DSG4, KRT81, KRT83, KRT86	3.86
48	Isolated congenitally uncorrected transposition of the great arteries	Enrichment	CFC1, GDF1, MED13L, ZIC3	3.86
49	Benign epilepsy with centrotemporal spikes	Enrichment	GRIN1, KCNQ3, RELN, SCN1A, SCN1B, SCN2A, SCN9A, SPTAN1	3.78
50	Generalized epilepsy with febrile seizures plus	Enrichment	ADGRV1, SCN1A, SCN1B, SCN2A, SCN9A	3.77
51	Alobar holoprosencephaly	Enrichment	CDON, CRIPTO, DLL1, FGF8, FOXH1, NODAL, SHH, ZIC2	3.73
52	Stickler syndrome	Enrichment	BMP4, COL11A1, COL2A1, COL9A1, COL9A2, COL9A3	3.64
53	Centralopathic epilepsy	Enrichment	GRIN1, KCNQ3, RELN, SCN1A, SCN1B, SCN2A, SCN9A, SPTAN1	3.63
54	Erythermalgia, primary	Enrichment	SCN10A, SCN11A, SCN9A	3.63
55	Schimmelpenning-feuerstein-mims syndrome	Enrichment	HRAS, KRAS, NRAS	3.63
56	Cardiofaciocutaneous syndrome 1	Enrichment	KRAS, MAP2K1, MAP2K2	3.63
57	Cardiofaciocutaneous syndrome	Enrichment	KRAS, MAP2K1, MAP2K2	3.63
58	Chronic myelogenous leukemia, bcr-abl1 positive	Enrichment	ABL1, KRAS, NRAS	3.63
59	Tubulinopathy	Enrichment	TUBA1A, TUBB2A, TUBB2B	3.63
60	Autosomal recessive stickler syndrome	Enrichment	COL9A1, COL9A2, COL9A3	3.63
61	Bethlem muscular dystrophy	Enrichment	COL6A1, COL6A2, COL6A3	3.63
62	Microcephaly	Enrichment	ABL1, ACTB, ACTG1, ARID1A, ARID1B, COL4A1, CTNNB1, DIAPH1, EP300, FLG, GRIN2B, IARS1, KARS1, KMT2A, KMT2D, MAPK1, MED12, PAK3, PSMC3, PTPN11, QARS1, SCN1A, TCF4, TRIO, TUBB4A, YWHAG, ZIC2	3.59
63	Gallbladder cancer	Enrichment	CTNNB1, KRAS, PIK3CA, SMAD4, TP53	3.59
64	Skin disease	Enrichment	FLG, ITGB4, KRT14, KRT17, LAMB3, LAMC2, NCSTN, TGM1, TYR	3.57
65	Type 2 diabetes mellitus	Enrichment	AKT2, GCK, HNF1A, HNF1B, HNF4A, IRS2, NEUROD1, PDX1, PPARG, RBPJ, SLC2A2, SLC2A4, TCF7L2	3.47
66	Diamond-blackfan anemia 15 with mandibulofacial dysostosis	Enrichment	RPS26, RPS28	3.39
67	Dravet syndrome	Enrichment	SCN1A, SCN1B, SCN2A, SCN9A	3.38
68	Autosomal dominant macrothrombocytopenia	Enrichment	ITGA2B, ITGB3, TUBA8, TUBB1	3.38
69	46,xy complete gonadal dysgenesis	Enrichment	DHH, DMRT1, NR5A1, SOX9, SRY, WT1	3.34
70	Diabetes mellitus	Enrichment	CELA2A, GCK, HNF1A, INS, RFX6, SPINK1	3.34
71	Alport syndrome 3a, autosomal dominant	Enrichment	COL4A3, COL4A4, COL4A5	3.24
72	Paroxysmal extreme pain disorder	Enrichment	SCN10A, SCN11A, SCN9A	3.24
73	Ullrich congenital muscular dystrophy 1a	Enrichment	COL6A1, COL6A2, COL6A3	3.24
74	Autosomal dominant alport syndrome	Enrichment	COL4A3, COL4A4, COL4A5	3.24
75	Alport syndrome	Enrichment	COL4A3, COL4A4, COL4A5	3.24
76	Rhabdomyosarcoma 2	Enrichment	FOXO1, PAX3, PAX7, TP53	3.20
77	Congenital heart defects, multiple types, 4	Enrichment	BMP7, GATA4, GATA6, NR2F2	3.20
78	Persistent truncus arteriosus	Enrichment	GATA6, NKX2-5, PLXND1, TBX1	3.20
79	Juvenile myelomonocytic leukemia	Enrichment	KRAS, NRAS, PTPN11, RRAS	3.04
80	Cerebral palsy	Enrichment	CACNA1C, COL4A1, COL4A2, GRIN2B, SMARCA4, TUBA1A, TUBB4A	3.02
81	Long qt syndrome 1	Enrichment	ANK2, CACNA1C, PTPN11, SCN10A, SCN4B, SCN5A	3.02
82	Congenital fibrosis of the extraocular muscles	Enrichment	TUBA1A, TUBB2B, TUBB3	2.95
83	Hereditary spherocytosis	Enrichment	ANK1, SPTA1, SPTB	2.95
84	Fetomaternal alloimmune thrombocytopenia 1	Enrichment	ITGA2, ITGA2B, ITGB3	2.95
85	Lung squamous cell carcinoma	Enrichment	EGFR, KRAS, PIK3CA	2.95
86	Monilethrix 1	Enrichment	KRT81, KRT83, KRT86	2.90
87	Palmoplantar keratoderma, epidermolytic, 1	Enrichment	KRT1, KRT16, KRT9	2.90
88	Waardenburg syndrome, type 2a	Enrichment	MITF, POLR2F, SOX10	2.90
89	46,xx sex reversal 1	Enrichment	NR5A1, SOX9, SRY	2.90
90	Tessadori-bicknell-van haaften neurodevelopmental syndrome 4	Enrichment	H2BC12, H4C1, H4C9	2.90
91	Junctional epidermolysis bullosa	Enrichment	ITGA6, ITGB4, LAMA3, LAMB3, LAMC2	2.89
92	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	Enrichment	LHX3, LHX4	2.87
93	Microphthalmia/coloboma 12	Enrichment	CDON, MYH10, PAX2, PAX6, RARB, YAP1	2.85
94	Seizures, benign familial neonatal, 2	Enrichment	KCNQ2, KCNQ3	2.81
95	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	Enrichment	TREM2, TYROBP	2.81
96	Pyropoikilocytosis, hereditary	Enrichment	SPTA1, SPTB	2.81
97	Seizures, benign familial infantile, 3	Enrichment	KCNQ2, SCN2A	2.81
98	Encephalocraniocutaneous lipomatosis	Enrichment	FGFR1, KRAS	2.81
99	Ras-associated autoimmune leukoproliferative disorder	Enrichment	KRAS, NRAS	2.81
100	Rosette-forming glioneuronal tumor	Enrichment	FGFR1, PIK3CA	2.81
101	Benign familial neonatal epilepsy	Enrichment	KCNQ3, SCN2A	2.81
102	Immune system disease	Enrichment	CDC42, PIK3CD	2.81
103	Baraitser-winter cerebrofrontofacial syndrome	Enrichment	ACTB, ACTG1	2.81
104	Seizures, benign familial infantile, 5	Enrichment	KCNQ3, SCN8A	2.81
105	Self-limited neonatal epilepsy	Enrichment	KCNQ2, KCNQ3	2.81
106	Benign neonatal seizures	Enrichment	KCNQ3, SCN2A	2.81
107	Sveinsson chorioretinal atrophy	Enrichment	SEMA4A, TEAD1	2.77
108	Neuropathy, congenital hypomyelinating, 1, autosomal recessive	Enrichment	EGR2, MPZ	2.77
109	Roussy-levy hereditary areflexic dystasia	Enrichment	MPZ, PMP22	2.77
110	Ehlers-danlos syndrome, classic type, 1	Enrichment	COL1A1, COL1A2, COL5A1, COL5A2	2.76
111	Epidermolysis bullosa, junctional 1a, intermediate	Enrichment	ITGB4, LAMA3, LAMB3, LAMC2	2.76
112	Anterior segment dysgenesis 5	Enrichment	ARHGAP35, BMP4, COL4A1, PAX6	2.76
113	Junctional epidermolysis bullosa non-herlitz type	Enrichment	ITGB4, LAMA3, LAMB3, LAMC2	2.76
114	Adrenocortical carcinoma	Enrichment	CDKN2A, CTNNB1, TERT, TP53	2.76
115	Breast adenocarcinoma	Enrichment	AKT1, KRAS, PIK3CA, TP53	2.76
116	Classic ehlers-danlos syndrome	Enrichment	COL1A1, COL1A2, COL5A1, COL5A2	2.76
117	Albinism	Enrichment	DCT, GPR143, TYR, TYRP1	2.76
118	Patent foramen ovale	Enrichment	GATA4, GATA6, NKX2-5, PSMC3, PTPN11, TBX20, TBX5	2.73
119	Bethlem myopathy 1a	Enrichment	COL6A1, COL6A2, COL6A3	2.72
120	Thyroid cancer, nonmedullary, 2	Enrichment	HRAS, NRAS, SRGAP1	2.72
121	Polymicrogyria, bilateral perisylvian, x-linked	Enrichment	SCN3A, TUBA1A, TUBB2B	2.72
122	Leukemia, chronic myeloid	Enrichment	ABL1, KRAS, NRAS	2.72
123	Neuropathy, hereditary sensory and autonomic, type v	Enrichment	SCN10A, SCN11A, SCN9A	2.72
124	Pilomyxoid astrocytoma	Enrichment	FGFR1, KRAS, SRGAP3	2.72
125	Focal epilepsy	Enrichment	SCN2A, SCN8A, SPTAN1	2.72
126	Follicular thyroid carcinoma	Enrichment	HRAS, NRAS, SRGAP1	2.72
127	Early-onset autosomal dominant alzheimer disease	Enrichment	PSEN1, PSEN2, TREM2	2.72
128	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	ACTA2, COL1A1, COL3A1, COL5A1, COL5A2, HEY2, MED12, MYH11, NOTCH1, SMAD2, SMAD3, SMAD4	2.71
129	Familial atrial fibrillation	Enrichment	SCN1B, SCN2B, SCN3B, SCN4B, SCN5A	2.67
130	Colorectal cancer	Enrichment	AKT1, ARID1A, BRCA1, CCND1, CTNNA1, CTNNB1, EP300, EPCAM, ERBB2, MET, NRAS, PIK3CA, PIK3R1, PPARG, RET, SMAD4, SOX9, SRC, TP53	2.67
131	Mosaic variegated aneuploidy syndrome 1	Enrichment	BUB1B-PAK6, PAK6	2.66
132	Lung cancer susceptibility 3	Enrichment	ACTA2, EGFR, ERBB2, FGF10, KRAS, TP53	2.65
133	Heart disease	Enrichment	ABL1, CREBBP, GATA4, NKX2-5, NR2F2, TBX5	2.65
134	Peters-plus syndrome	Enrichment	ARHGAP35, BMP4, COL4A1, FOXC1, PAX6	2.63
135	Cakut	Enrichment	ACTG1, COL4A1, FOXC1, GATA3, HNF1B, PAX2, ROBO1, SALL1, SLIT2, SRGAP1	2.60
136	Developmental and epileptic encephalopathy	Enrichment	KCNQ2, SCN1A, SCN2A, SCN3A, SCN8A, SPTAN1	2.59
137	Scoliosis	Enrichment	COL2A1, CREBBP, GRIN2B, MED13L, MYF5, PTPN11, RELN, TBX6	2.55
138	Coloboma of macula	Enrichment	CDON, MYH10, PAX2, PAX6, RARB, YAP1	2.47
139	Corpus callosum, agenesis of	Enrichment	ARID1B, CDH2, COL4A1, CREBBP, MED12, TUBA1A	2.47
140	Isolated corpus callosum agenesis	Enrichment	ARID1B, CDH2, COL4A1, CREBBP, MED12, TUBA1A	2.47
141	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Enrichment	ARID1B, CDH2, COL4A1, CREBBP, MED12, TUBA1A	2.47
142	Combined pituitary hormone deficiency	Enrichment	LHX3, LHX4	2.44
143	Waardenburg syndrome, type 1	Enrichment	MITF, PAX3, POLR2F, SOX10	2.43
144	Atrial heart septal defect	Enrichment	ACTL6A, NKX2-5, RPL5, SMARCA4, TBX5	2.41
145	Interatrial communication	Enrichment	ACTL6A, NKX2-5, RPL5, SMARCA4, TBX5	2.41
146	Developmental and epileptic encephalopathy 14	Enrichment	KCNQ2, SCN1A, SCN2A	2.37
147	Bilateral perisylvian polymicrogyria	Enrichment	SCN3A, TUBA1A, TUBB2B	2.37
148	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	Enrichment	MYH9, TUBB1	2.34
149	Hematuria, benign familial, 1	Enrichment	COL4A3, COL4A4	2.34
150	Spondyloepiphyseal dysplasia congenita	Enrichment	CLASP1, COL2A1	2.34
151	Bleeding disorder, platelet-type, 16	Enrichment	ITGA2B, ITGB3	2.34
152	Langerhans cell histiocytosis	Enrichment	MAP2K1, NRAS	2.34
153	Alzheimer disease 4	Enrichment	PSEN1, PSEN2	2.34
154	Ehlers-danlos syndrome, classic type, 2	Enrichment	COL5A1, COL5A2	2.34
155	Generalized epilepsy with febrile seizures plus, type 1	Enrichment	SCN1A, SCN1B	2.34
156	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	PIK3CA, PIK3R1	2.34
157	Immunodeficiency 14a with lymphoproliferation, autosomal dominant	Enrichment	PIK3CD, PIK3R1	2.34
158	Large congenital melanocytic nevus	Enrichment	HRAS, NRAS	2.34
159	Immunodeficiency 14	Enrichment	PIK3CD, PIK3R1	2.34
160	Tricuspid valve insufficiency	Enrichment	MYH11, PTPN11	2.34
161	Schizencephaly	Enrichment	COL4A1, EMX2, SHH	2.33
162	Polyposis syndrome, hereditary mixed, 1	Enrichment	BRCA1, CTNNA1, GREM1	2.33
163	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	AKT3, PIK3CA, PIK3R2	2.33
164	Maturity-onset diabetes of the young, type 3	Enrichment	GCK, HNF1A, HNF4A	2.33
165	Lung sarcomatoid carcinoma	Enrichment	KRAS, TERT, TP53	2.33
166	Malignant epithelioid hemangioendothelioma	Enrichment	TFE3, WWTR1, YAP1	2.33
167	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	CDC42, PTPN11, YWHAZ	2.33
168	Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)	Enrichment	CBFB, KIT, MYH11	2.33
169	Hereditary progressive cardiac conduction defect	Enrichment	NKX2-5, SCN1B, SCN5A	2.33
170	Pseudomyogenic hemangioendothelioma	Enrichment	ACTB, SERPINE1, WWTR1	2.33
171	Connective tissue disease	Enrichment	ACTA2, COL11A1, COL2A1, COL5A1, COL9A1, COL9A3, NOTCH1, SMAD3, SOX9	2.25
172	Myeloma, multiple	Enrichment	CCND1, CREBBP, H3C1, KMT2C, KMT2D, KRAS, NCOR2, PIK3R2, RXRA, TCF3, TET3, TP53, YAP1	2.23
173	Mosaic variegated aneuploidy syndrome	Enrichment	BUB1B-PAK6, PAK6	2.22
174	Epicanthus	Enrichment	KCNQ2, PTPN11, RPL17, TCF4, TFAP2A	2.21
175	Septooptic dysplasia	Enrichment	ARID1A, FGFR1, OTX2, SHH, SOX2	2.21
176	Meningioma	Enrichment	AKT1, PIK3CA, SMARCB1, SMARCE1, TERT	2.21
177	Undetermined early-onset epileptic encephalopathy	Enrichment	CLTC, DNM1, LIMK1, SCN1A, SCN1B, SCN3A, SCN8A	2.21
178	Autism spectrum disorder	Enrichment	ANK2, ARID1B, CNTN6, CSNK2A1, CSNK2B, EED, GRIN2B, KDM5B, KDM6A, KMT2A, KMT2C, MAP2K1, MED13L, MEF2C, PBX1, PTPN11, SCN2A, SMARCB1, TCF12, TCF4, TNRC6B	2.21
179	Glioma susceptibility 1	Enrichment	ERBB2, H3-3A, H3C1, TP53	2.17
180	Permanent neonatal diabetes mellitus	Enrichment	GCK, INS, PDX1, STAT3	2.17
181	Visceral heterotaxy	Enrichment	ACVR2B, CFC1, DAND5, GDF1, LEFTY2, NODAL, ZIC3	2.17
182	Ellis-van creveld syndrome	Enrichment	PRKACA, PRKACB	2.12
183	Lung cancer	Enrichment	EGFR, ERBB2, KRAS, MET, PIK3CA	2.11
184	Specific learning disability	Enrichment	MAPK1, PTPN11, RPS6KA3	2.10
185	Brain small vessel disease 1 with or without ocular anomalies	Enrichment	COL4A1, COL4A2	2.06
186	Alport syndrome 2, autosomal recessive	Enrichment	COL4A3, COL4A4	2.06
187	Ventricular fibrillation, paroxysmal familial, 1	Enrichment	CACNA1C, SCN5A	2.06
188	Hereditary elliptocytosis	Enrichment	SPTA1, SPTB	2.06
189	Autosomal recessive alport syndrome	Enrichment	COL4A3, COL4A4	2.06
190	Differentiated thyroid carcinoma	Enrichment	HRAS, KRAS, NRAS, PAX8, PPARG, RET, TERT, TRIM33	2.00
191	Cardiac conduction defect	Enrichment	CACNA1C, SCN1B, SCN5A	1.99
192	Epidermolytic hyperkeratosis 1	Enrichment	KRT1, KRT10, KRT2	1.97
193	Epidermolysis bullosa simplex 1c, localized	Enrichment	ITGB4, KRT14, KRT5	1.97
194	Lymphoma	Enrichment	KMT2D, PTPN11, TP53	1.97
195	Familial woolly hair syndrome	Enrichment	KRT25, KRT71, KRT74	1.97
196	Holoprosencephaly	Enrichment	FGF8, FGFR1, ZIC2	1.97
197	Epidermolysis bullosa	Enrichment	ITGA6, KRT5, LAMB3	1.97
198	Nonsyndromic 46,xx testicular disorders/differences of sex development	Enrichment	NR5A1, SOX9, SRY	1.97
199	Aniridia	Enrichment	EPHA2, FOXC1, PAX6	1.97
200	Acute myeloid leukemia with t(8;21)(q22;q22) translocation	Enrichment	CEBPA, KIT, RUNX1	1.97
201	Thrombocytopenia	Enrichment	ITGA2B, ITGB3, MYH9, PTPN11, SRC, TUBB1	1.96
202	Charge syndrome	Enrichment	EP300, KDM6A, KMT2D, SEMA3E	1.96
203	Adult hepatocellular carcinoma	Enrichment	CTNNB1, EGF, PIK3CA, TP53	1.96
204	Ventricular septal defect	Enrichment	FOXF1, RPS6KA3, SMARCA4, TBX5	1.96
205	Pituitary stalk interruption syndrome	Enrichment	LHX4, ROBO1	1.95
206	Pituitary hormone deficiency, combined, 3	Enrichment	LHX3	1.93
207	Robin sequence with cleft mandible and limb anomalies	Enrichment	EIF4A3	1.93
208	Nystagmus 8, congenital, autosomal recessive	Enrichment	ROBO1	1.93
209	Intellectual developmental disorder, x-linked, syndromic 35	Enrichment	RPL10	1.93
210	Alport syndrome 1, x-linked	Enrichment	COL4A5	1.93
211	Intellectual developmental disorder, x-linked, syndromic 14	Enrichment	UPF3B	1.93
212	Asplenia, isolated congenital	Enrichment	RPSA	1.93
213	Vesicoureteral reflux 2	Enrichment	ROBO2	1.93
214	Diamond-blackfan anemia 10	Enrichment	RPS26	1.93
215	Hypotrichosis 12	Enrichment	RPL21	1.93
216	Microtia, hearing impairment, and cleft palate	Enrichment	HOXA2	1.93
217	Diamond-blackfan anemia 13	Enrichment	RPS29	1.93
218	Parkinson disease 18, autosomal dominant	Enrichment	EIF4G1	1.93
219	Muscular dystrophy-dystroglycanopathy , type a, 9	Enrichment	DAG1	1.93
220	Diamond-blackfan anemia 7	Enrichment	RPL11	1.93
221	Diamond-blackfan anemia 18	Enrichment	RPL18	1.93
222	Spondyloepimetaphyseal dysplasia, isidor-toutain type	Enrichment	RPL13	1.93
223	Spermatogenic failure 63	Enrichment	RPL10L	1.93
224	Neurodevelopmental disorder with microcephaly, hypotonia, and absent language	Enrichment	PSMB1	1.93
225	Autism x-linked 5	Enrichment	RPL10	1.93
226	Diamond-blackfan anemia 20	Enrichment	RPS15A	1.93
227	Stankiewicz-isidor syndrome	Enrichment	PSMD12	1.93
228	Diamond-blackfan anemia 3	Enrichment	RPS24	1.93
229	Diamond-blackfan anemia 8	Enrichment	RPS7	1.93
230	Deafness, cataract, impaired intellectual development, and polyneuropathy	Enrichment	PSMC3	1.93
231	Diamond-blackfan anemia 4	Enrichment	RPS17	1.93
232	Conjugate gaze palsy	Enrichment	ROBO3	1.93
233	Diamond-blackfan anemia 11	Enrichment	RPL26	1.93
234	Muscular dystrophy-dystroglycanopathy , type c, 9	Enrichment	DAG1	1.93
235	Spondyloepimetaphyseal dysplasia	Enrichment	RPL13	1.93
236	Diamond-blackfan anemia 19	Enrichment	RPL35	1.93
237	Autosomal recessive congenital nystagmus	Enrichment	ROBO1	1.93
238	Brachycephaly, trichomegaly, and developmental delay	Enrichment	RPS23	1.93
239	Cardiomyopathy, dilated, 2d	Enrichment	RPL3L	1.93
240	Pituitary hormone deficiency, combined or isolated, 8	Enrichment	ROBO1	1.93
241	Syndromic x-linked intellectual disability 14	Enrichment	UPF3B	1.93
242	Neurooculorenal syndrome	Enrichment	ROBO1	1.93
243	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	Enrichment	RPL10	1.93
244	Pure red-cell aplasia	Enrichment	RPS26	1.93
245	X-linked alport syndrome	Enrichment	COL4A5	1.93
246	Diamond-blackfan anemia 22	Enrichment	RPL17	1.93
247	Muscle-eye-brain disease with bilateral multicystic leucodystrophy	Enrichment	DAG1	1.93
248	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	Enrichment	RPL10	1.93
249	Congenital nystagmus	Enrichment	ROBO1	1.93
250	Pancreas, dorsal, agenesis of	Enrichment	PDX1, PTF1A	1.93
251	Maturity-onset diabetes of the young, type 1	Enrichment	GCK, HNF4A	1.93
252	Spondyloepimetaphyseal dysplasia, strudwick type	Enrichment	COL2A1, FN1	1.93
253	Spondylometaphyseal dysplasia, corner fracture type	Enrichment	COL2A1, FN1	1.93
254	Specific granule deficiency 1	Enrichment	CEBPE, SMARCD2	1.93
255	Otospondylomegaepiphyseal dysplasia, autosomal recessive	Enrichment	COL11A2, COL2A1	1.93
256	Thumb deformity	Enrichment	CREBBP, TBX5	1.93
257	Epidermolysis bullosa simplex 1d, generalized, intermediate or severe, autosomal recessive	Enrichment	KRT14, KRT5	1.93
258	Tropical calcific pancreatitis	Enrichment	CTRC, SPINK1	1.93
259	Waardenburg syndrome, type 4c	Enrichment	POLR2F, SOX10	1.93
260	Keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy	Enrichment	KRT1, MPZ	1.93
261	Piebald trait	Enrichment	KIT, SNAI2	1.93
262	Griscelli syndrome, type 3	Enrichment	MLPH, MYO5A	1.93
263	Peeling skin syndrome 2	Enrichment	CSTA, TGM5	1.93
264	Corneal dystrophy, meesmann, 1	Enrichment	KRT12, KRT3	1.93
265	Kallikrein, decreased urinary activity of	Enrichment	KLK1, PTF1A	1.93
266	Otospondylomegaepiphyseal dysplasia, autosomal dominant	Enrichment	COL11A2, COL2A1	1.93
267	Tessadori-bicknell-van haaften neurodevelopmental syndrome 1	Enrichment	H4C1, H4C3	1.93
268	Tessadori-bicknell-van haaften neurodevelopmental syndrome 2	Enrichment	H4C1, H4C11	1.93
269	Intellectual developmental disorder, autosomal dominant 48	Enrichment	RAC1, RARB	1.93
270	Ehlers-danlos syndrome, arthrochalasia type, 2	Enrichment	COL1A1, COL1A2	1.93
271	Vertebral anomalies and variable endocrine and t-cell dysfunction	Enrichment	DICER1, TBX2	1.93
272	Melanoma, cutaneous malignant 8	Enrichment	MITF, TYR	1.93
273	Fibrochondrogenesis	Enrichment	COL11A1, COL11A2	1.93
274	Childhood hepatocellular carcinoma	Enrichment	CTNNB1, MET	1.93
275	Rhabdoid tumor predisposition syndrome	Enrichment	SMARCA4, SMARCB1	1.93
276	Branchiootic syndrome	Enrichment	EYA1, SIX1	1.93
277	Papillary renal cell carcinoma	Enrichment	MET, MITF	1.93
278	Branchiootic syndrome 1	Enrichment	EYA1, SIX1	1.93
279	46,xy sex reversal 3	Enrichment	GATA4, NR5A1	1.93
280	Stickler syndrome, type ii	Enrichment	COL11A1, COL1A1	1.93
281	Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease	Enrichment	POLR2F, SOX10	1.93
282	Familial isolated congenital asplenia	Enrichment	NKX2-5, RPSA	1.93
283	Hypotrichosis simplex of the scalp	Enrichment	CDSN, KRT74	1.93
284	White sponge nevus	Enrichment	KRT13, KRT4	1.93
285	Bryant-li-bhoj neurodevelopmental syndrome 2	Enrichment	H3-3A, H3-3B	1.93
286	Ehlers-danlos/osteogenesis imperfecta syndrome	Enrichment	COL1A1, COL1A2	1.93
287	B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)	Enrichment	PBX1, TCF3	1.93
288	Hyperinsulinism due to hnf1a deficiency	Enrichment	HNF1A, HNF4A	1.93
289	Monilethrix 2	Enrichment	KRT81, KRT86	1.93
290	Renal hypoplasia, bilateral	Enrichment	PAX2, PBX1	1.93
291	B-lymphoblastic leukemia/lymphoma with t	Enrichment	KIT, KMT2A	1.93
292	Tafro syndrome	Enrichment	MAP2K2, RUNX1	1.93
293	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome	Enrichment	HOXA11, MECOM	1.93
294	Specific granule deficiency	Enrichment	CEBPE, SMARCD2	1.93
295	Ehlers-danlos syndrome	Enrichment	COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, SMAD3	1.90
296	Aortic aneurysm, familial thoracic 1	Enrichment	COL3A1, GATA4, MYH11, NOTCH1, SMAD3	1.89
297	Hereditary chronic pancreatitis	Enrichment	CFTR, CPA1, CTRC, PRSS1, SPINK1	1.89
298	Kallmann syndrome	Enrichment	FGFR1, FLRT3, SEMA3A, SOX10	1.87
299	Fetal akinesia deformation sequence 1	Enrichment	CNTNAP1, SCN4A, SCN5A, SCN8A, TUBA1A	1.85
300	Capillary malformations, congenital	Enrichment	PIK3CA, RASA1	1.84
301	Retinal detachment	Enrichment	COL2A1, COL9A3	1.84
302	Heart conduction disease	Enrichment	CACNA1C, SCN5A	1.84
303	Familial porencephaly	Enrichment	COL4A1, COL4A2	1.84
304	Inherited cancer-predisposing syndrome	Enrichment	BRCA1, CDK4, CDKN2A, CEBPA, CTNNA1, DICER1, EGFR, EPCAM, EZH2, KIT, MECOM, MET, MITF, PTPN11, RET, RPS20, RUNX1, SMAD4, SMARCA4, SMARCB1, SMARCE1, TP53, WT1	1.84
305	Intellectual developmental disorder, x-linked 30	Enrichment	PAK3	1.82
306	Noonan syndrome 4	Enrichment	SOS1	1.82
307	Amyotrophic lateral sclerosis 18	Enrichment	PFN1	1.82
308	Noonan syndrome 9	Enrichment	SOS2	1.82
309	Whim syndrome 1	Enrichment	CXCR4	1.82
310	Cardiomyopathy, dilated, 2i	Enrichment	CAP2	1.82
311	Knobloch syndrome 2	Enrichment	PAK2	1.82
312	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	Enrichment	PAK1	1.82
313	Mirror movements 4	Enrichment	NTN1	1.82
314	Cardioacrofacial dysplasia 2	Enrichment	PRKACB	1.82
315	Celiac disease 4	Enrichment	MYO9B	1.82
316	Pigmented nodular adrenocortical disease, primary, 4	Enrichment	PRKACA	1.82
317	Cardioacrofacial dysplasia 1	Enrichment	PRKACA	1.82
318	Thrombocytopenia 6	Enrichment	SRC	1.82
319	Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies	Enrichment	RHOA	1.82
320	Takenouchi-kosaki syndrome	Enrichment	CDC42	1.82
321	Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies	Enrichment	RHOA	1.82
322	Nocarh syndrome	Enrichment	CDC42	1.82
323	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	Enrichment	RAC1	1.82
324	Developmental and epileptic encephalopathy 1	Enrichment	GRIN1, KCNQ2, SCN1A, SCN8A	1.81
325	Muscular dystrophy, limb-girdle, autosomal recessive 23	Enrichment	L1CAM, LAMA2	1.81
326	Sensory peripheral neuropathy	Enrichment	MPZ, SCN11A	1.81
327	Focal segmental glomerulosclerosis	Enrichment	COL4A4, COL4A5, EYA1, PAX2, TRPC6, WT1	1.79
328	Autosomal non-syndromic agammaglobulinemia	Enrichment	PIK3CD, PIK3R1, SPI1, TCF3	1.77
329	Spastic ataxia	Enrichment	CACNA1G, CACNB4, DAB1, SCN2A, SPTAN1, TUBB3	1.76
330	Myopia	Enrichment	COL11A1, COL2A1, COL4A4, MYH11, TYR	1.75
331	Kidney disease	Enrichment	COL4A3, COL4A4, COL4A5, LAMB2, WT1	1.75
332	Rare genetic intellectual disability	Enrichment	ARID1B, CREBBP, EP300, FOXP1, KMT2A	1.75
333	Epilepsy	Enrichment	GRIN2B, SCN1A, SCN2A, SCN3A, SCN8A	1.71
334	Myopathy	Enrichment	COL6A1, COL6A2, COL6A3, DNM2, SCN4A	1.71
335	Developmental dysplasia of the hip 1	Enrichment	COL2A1, PSMC3, TRIM33	1.70
336	Branchiootorenal syndrome 1	Enrichment	EYA1, SIX1, TFAP2A	1.70
337	Myopathy, centronuclear, 1	Enrichment	DNM2, MYF6, MYOD1	1.70
338	Kabuki syndrome 1	Enrichment	KDM6A, KMT2A, KMT2D	1.70
339	Epidermolysis bullosa, junctional 1b, severe	Enrichment	LAMA3, LAMB3, LAMC2	1.70
340	Holoprosencephaly 1	Enrichment	FGF8, FGFR1, ZIC2	1.70
341	Albinism, ocular, type i	Enrichment	GPR143, TYR, TYRP1	1.70
342	Keratoconus	Enrichment	COL1A1, COL4A1, COL5A2	1.70
343	Double outlet right ventricle	Enrichment	GDF1, NKX2-5, ZFPM2	1.70
344	46,xy disorder of sex development	Enrichment	NR2F2, NR5A1, SRY	1.70
345	Kidney clear cell sarcoma	Enrichment	IRX2, TERT, YWHAE	1.70
346	Klippel-trenaunay-weber syndrome	Enrichment	PIK3CA, RASA1	1.68
347	Hypokalemic periodic paralysis, type 1	Enrichment	CACNA1S, SCN4A	1.68
348	Cowden syndrome 1	Enrichment	EGFR, PIK3CA	1.68
349	Telangiectasia, hereditary hemorrhagic, type 1	Enrichment	PSEN1, RASA1	1.68
350	Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1	Enrichment	TUBB2B, VLDLR	1.68
351	Hemihyperplasia, isolated	Enrichment	PIK3CA, RHOA	1.68
352	Hemangioma, capillary infantile	Enrichment	MYH9, RASA1	1.68
353	Hemorrhage, intracerebral	Enrichment	COL4A1, COL4A2	1.68
354	Pain disorder	Enrichment	COL5A1, SCN4A	1.68
355	Patent ductus arteriosus	Enrichment	PSMC3, PTPN11	1.68
356	Autism	Enrichment	ALDH1A3, CNTN6, COL11A1, CREBBP, FOXP1, GSPT2, KMT2D, RPL17, SCN1A, SCN2A, SCN8A, SHH, STX1A, TCF7L2	1.67
357	Hypertension	Enrichment	COL4A4, COL4A5, MYH9	1.64
358	Chromosome 5q deletion syndrome	Enrichment	RPS14	1.63
359	Gaze palsy, familial horizontal, with progressive scoliosis 1	Enrichment	ROBO3	1.63
360	Diamond-blackfan anemia 6	Enrichment	RPL5	1.63
361	Diamond-blackfan anemia 9	Enrichment	RPS10	1.63
362	Diamond-blackfan anemia 5	Enrichment	RPL35A	1.63
363	Diamond-blackfan anemia 12	Enrichment	RPL15	1.63
364	Birk-aharoni syndrome	Enrichment	PSMC1	1.63
365	Proteasome-associated autoinflammatory syndrome 3	Enrichment	PSMB4	1.63
366	Bladder exstrophy	Enrichment	ISL1	1.63
367	Diamond-blackfan anemia 16	Enrichment	RPL27	1.63
368	17q24.2 microdeletion syndrome	Enrichment	PSMD12	1.63
369	Diamond-blackfan anemia 17	Enrichment	RPS27	1.63
370	Horizontal gaze palsy with progressive scoliosis	Enrichment	ROBO3	1.63
371	X-linked diffuse leiomyomatosis-alport syndrome	Enrichment	COL4A5	1.63
372	Submucosal cleft palate	Enrichment	UBB	1.63
373	Cleft hard palate	Enrichment	UBB	1.63
374	Leukemia, acute myeloid	Enrichment	CEBPA, GATA2, KIT, KMT2A, KRAS, NRAS, RUNX1, TERT, TP53	1.60
375	Charcot-marie-tooth disease	Enrichment	DNM2, LAMA2, MPZ, PMP22, PRX	1.59
376	Hepatocellular carcinoma	Enrichment	CTNNB1, MET, PIK3CA, RET, TERT, TP53	1.58
377	Microphthalmia	Enrichment	ALDH1A3, OTX2, PAX6, RARB, SOX2, TFAP2A	1.58
378	Distal arthrogryposis	Enrichment	ADGRG6, CNTNAP1, SCN4A, SCN5A, SCN8A	1.55
379	Brugada syndrome 1	Enrichment	SCN10A, SCN5A	1.55
380	Glanzmann thrombasthenia 1	Enrichment	ITGA2B, ITGB3	1.55
381	Intervertebral disc disease	Enrichment	COL9A2, COL9A3	1.55
382	Semantic dementia	Enrichment	PSEN1, TREM2	1.55
383	Hemolytic anemia	Enrichment	SPTA1, SPTB	1.55
384	Fibromatosis, gingival, 1	Enrichment	SOS1	1.52
385	Microcephalic osteodysplastic primordial dwarfism, type i	Enrichment	CLASP1	1.52
386	Lowry-wood syndrome	Enrichment	CLASP1	1.52
387	Pulmonic stenosis	Enrichment	SOS1	1.52
388	Bleeding disorder, platelet-type, 19	Enrichment	PRKACG	1.52
389	Hypogonadotropic hypogonadism 21 with or without anosmia	Enrichment	FLRT3	1.52
390	Roifman syndrome	Enrichment	CLASP1	1.52
391	Congenital heart defects and skeletal malformations syndrome	Enrichment	ABL1	1.52
392	Fibrolamellar carcinoma	Enrichment	PRKACA	1.52
393	Rnu4atac-opathy	Enrichment	CLASP1	1.52
394	Melanoma, cutaneous malignant 1	Enrichment	CDK4, CDKN2A, MC1R, MITF, TERT	1.52
395	Pancreatitis, hereditary	Enrichment	CFTR, CPA1, CTRC, PRSS1, SPINK1	1.52
396	Renal cell carcinoma with mit translocations	Enrichment	CLTC, TFE3, TFEB	1.50
397	Branchiootorenal syndrome	Enrichment	EYA1, SIX1, TFAP2A	1.50
398	Epidermolysis bullosa simplex	Enrichment	ITGB4, KRT14, KRT5	1.50
399	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	Enrichment	ABL1, CDKN2A, TP53	1.50
400	Early infantile developmental and epileptic encephalopathy	Enrichment	GRIN1, SCN1B, SCN2A	1.50
401	Precursor t-cell acute lymphoblastic leukemia	Enrichment	ABL1, CDKN2A, CNOT3, MYB, MYC, TAL1	1.49
402	Long qt syndrome	Enrichment	ANK2, CACNA1C, CACNA1S, SCN5A	1.49
403	Non-immune hydrops fetalis	Enrichment	EPHB4, HRAS, KRAS, PTPN11	1.49
404	Hyper-ige syndrome 1, autosomal dominant, with recurrent infections	Enrichment	ITGB3, STAT3	1.49
405	Spondylocostal dysostosis 5	Enrichment	MESP2, TBX6	1.49
406	Telecanthus	Enrichment	COL11A1, COL5A2	1.49
407	Intellectual developmental disorder, x-linked, syndromic, lujan-fryns type	Enrichment	MED12, UPF3B	1.49
408	Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies	Enrichment	HNF1B, WNT4	1.49
409	Weaver syndrome	Enrichment	EZH2, SUZ12	1.49
410	Ectodermal dysplasia 4, hair/nail type	Enrichment	KRT74, KRT85	1.49
411	Heart defects, congenital, and other congenital anomalies	Enrichment	DLG4, GATA6	1.49
412	Nuchal bleb, familial	Enrichment	CFTR, SOS1	1.49
413	Osteoporosis, juvenile	Enrichment	WNT1, WNT3A	1.49
414	Transposition of the great arteries, dextro-looped	Enrichment	ACVR1B, MED13L	1.49
415	Peeling skin syndrome 4	Enrichment	CSTA, KRT2	1.49
416	Ichthyosis with confetti	Enrichment	KRT1, KRT10	1.49
417	Ichthyosis, annular epidermolytic, 1	Enrichment	KRT1, KRT10	1.49
418	Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome	Enrichment	ATP6V1B2, ATP6V1C1	1.49
419	Chromosome 17q12 deletion syndrome	Enrichment	HNF1B, LHX1	1.49
420	Anus, imperforate	Enrichment	CTNNB1, MED12	1.49
421	Tessadori-bicknell-van haaften neurodevelopmental syndrome 3	Enrichment	H4C1, H4C5	1.49
422	Peeling skin syndrome 1	Enrichment	CDSN, TGM5	1.49
423	Autosomal recessive cutis laxa type ii classic type	Enrichment	ATP6V1A, ATP6V1E1	1.49
424	High-grade b-cell lymphoma double-hit/triple-hit	Enrichment	BCL2, MYC	1.49
425	Atypical teratoid rhabdoid tumor	Enrichment	SMARCB1, TP53	1.49
426	Chromophobe renal cell carcinoma	Enrichment	HNF1A, HNF1B	1.49
427	Macrocytic anemia	Enrichment	RPL17, TERT	1.49
428	Intraocular pressure quantitative trait locus	Enrichment	CREBBP, ZEB1	1.49
429	Duane retraction syndrome	Enrichment	MAFB, SALL4	1.49
430	Familial vesicoureteral reflux	Enrichment	ROBO2, SOX17	1.49
431	Cryptogenic cirrhosis	Enrichment	KRT18, KRT8	1.49
432	Butterfly-shaped pigment dystrophy	Enrichment	CTNNA1, OTX2	1.49
433	High bone mass osteogenesis imperfecta	Enrichment	COL1A1, COL1A2	1.49
434	Annular epidermolytic ichthyosis	Enrichment	KRT1, KRT10	1.49
435	Renal cell carcinoma	Enrichment	MET, TFE3	1.49
436	Hypomyelination neuropathy-arthrogryposis syndrome	Enrichment	CNTNAP1, LGI4	1.49
437	Keratoacanthoma	Enrichment	NOTCH1, PIK3CA	1.49
438	Autosomal dominant epidermolytic ichthyosis	Enrichment	KRT1, KRT10	1.49
439	Epilepsy with auditory features	Enrichment	LGI1, RELN	1.49
440	Proteasome-associated autoinflammatory syndrome 1	Enrichment	PSMB4	1.46
441	Uvula, bifid	Enrichment	UBB	1.46
442	Thrombocytopenia-absent radius syndrome	Enrichment	RBM8A	1.46
443	Pituitary hormone deficiency, combined, 4	Enrichment	LHX4	1.46
444	Cleft soft palate	Enrichment	UBB	1.46
445	Proteosome-associated autoinflammatory syndrome	Enrichment	PSMB4	1.46
446	Thyroid hemiagenesis	Enrichment	PSMD3	1.46
447	Charcot-marie-tooth disease type 4	Enrichment	EGR2, MPZ, PRX	1.45
448	Arthrogryposis, distal, type 1a	Enrichment	CNTNAP1, MET	1.43
449	Melanocytic nevus syndrome, congenital	Enrichment	HRAS, NRAS	1.43
450	Gastroesophageal reflux	Enrichment	COL5A1, RPS6KA3	1.43
451	Orthostatic intolerance	Enrichment	COL5A1, RPS6KA3	1.43
452	Lennox-gastaut syndrome	Enrichment	DNM1, SCN1A	1.43
453	Gastric cancer	Enrichment	BRCA1, CDK4, CDKN2A, EPCAM, ERBB2, KRAS, PIK3CA, SMAD4, TP53	1.42
454	Stickler syndrome, type i	Enrichment	COL2A1	1.40
455	Lymphatic malformation 5	Enrichment	EPHB4	1.40
456	Multiple endocrine neoplasia, type iib	Enrichment	RET	1.40
457	Elliptocytosis 2	Enrichment	SPTA1	1.40
458	Arthritis, sacroiliac	Enrichment	RELN	1.40
459	Macrodactyly	Enrichment	PIK3CA	1.40
460	Paget disease, extramammary	Enrichment	ERBB2	1.40
461	Osteoglophonic dysplasia	Enrichment	FGFR1	1.40
462	Metachondromatosis	Enrichment	PTPN11	1.40
463	Cystic angiomatosis of bone, diffuse	Enrichment	RASA1	1.40
464	Epiphyseal dysplasia, multiple, with myopia and conductive deafness	Enrichment	COL2A1	1.40
465	Thyrotoxic periodic paralysis 1	Enrichment	CACNA1S	1.40
466	Trigonocephaly 1	Enrichment	FGFR1	1.40
467	Hydrocephalus due to congenital stenosis of aqueduct of sylvius	Enrichment	L1CAM	1.40
468	Spondylometaphyseal dysplasia, algerian type	Enrichment	COL2A1	1.40
469	Baraitser-winter syndrome 1	Enrichment	ACTB	1.40
470	Coffin-lowry syndrome	Enrichment	RPS6KA3	1.40
471	Oculoectodermal syndrome	Enrichment	KRAS	1.40
472	Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement	Enrichment	TUBB3	1.40
473	Fatal familial insomnia	Enrichment	PRNP	1.40
474	Intellectual developmental disorder, x-linked 100	Enrichment	KIF4A	1.40
475	Hypocalciuric hypercalcemia, familial, type iii	Enrichment	AP2S1	1.40
476	Cardiac arrhythmia, ankyrin-b-related	Enrichment	ANK2	1.40
477	Immunodeficiency 50	Enrichment	MSN	1.40
478	Taurodontism, microdontia, and dens invaginatus	Enrichment	KIF4A	1.40
479	Osteoarthritis with mild chondrodysplasia	Enrichment	COL2A1	1.40
480	Spinocerebellar ataxia 5	Enrichment	SPTBN2	1.40
481	Deafness, autosomal recessive 26	Enrichment	GAB1	1.40
482	Avascular necrosis of femoral head, primary, 1	Enrichment	COL2A1	1.40
483	Immunodeficiency 61	Enrichment	SH3KBP1	1.40
484	Czech dysplasia	Enrichment	COL2A1	1.40
485	Epilepsy, idiopathic generalized 9	Enrichment	CACNB4	1.40
486	Deafness, autosomal recessive 24	Enrichment	RDX	1.40
487	Deafness, autosomal dominant 17	Enrichment	MYH9	1.40
488	Brugada syndrome 4	Enrichment	CACNB2	1.40
489	Brugada syndrome 5	Enrichment	SCN1B	1.40
490	Melorheostosis, isolated	Enrichment	MAP2K1	1.40
491	Megalencephaly, autosomal dominant	Enrichment	PIK3CA	1.40
492	Kniest dysplasia	Enrichment	COL2A1	1.40
493	Acne inversa, familial, 1	Enrichment	NCSTN	1.40
494	Leopard syndrome 1	Enrichment	PTPN11	1.40
495	Platyspondylic lethal skeletal dysplasia, torrance type	Enrichment	COL2A1	1.40
496	Long qt syndrome 10	Enrichment	SCN4B	1.40
497	Gerstmann-straussler disease	Enrichment	PRNP	1.40
498	Developmental and epileptic encephalopathy 5	Enrichment	SPTAN1	1.40
499	Congenital myopathy 12	Enrichment	CNTN1	1.40
500	Cowden syndrome 5	Enrichment	PIK3CA	1.40
501	Focal segmental glomerulosclerosis 2	Enrichment	TRPC6	1.40
502	Cardiofaciocutaneous syndrome 3	Enrichment	MAP2K1	1.40
503	Intellectual developmental disorder, autosomal recessive 37	Enrichment	ANK3	1.40
504	Episodic pain syndrome, familial, 3	Enrichment	SCN11A	1.40
505	Melanosis, neurocutaneous	Enrichment	NRAS	1.40
506	Charcot-marie-tooth disease, dominant intermediate b	Enrichment	DNM2	1.40
507	Spondyloepiphyseal dysplasia, stanescu type	Enrichment	COL2A1	1.40
508	Developmental and epileptic encephalopathy 7	Enrichment	KCNQ2	1.40
509	Developmental and epileptic encephalopathy 11	Enrichment	SCN2A	1.40
510	Macrothrombocytopenia, isolated, 1, autosomal dominant	Enrichment	TUBB1	1.40
511	Noonan syndrome 6	Enrichment	NRAS	1.40
512	Lissencephaly 5	Enrichment	LAMB1	1.40
513	Kuru	Enrichment	PRNP	1.40
514	Neuropathy, hereditary sensory and autonomic, type vii	Enrichment	SCN11A	1.40
515	Cone-rod dystrophy 10	Enrichment	SEMA4A	1.40
516	Episodic ataxia, type 5	Enrichment	CACNB4	1.40
517	Developmental and epileptic encephalopathy 27	Enrichment	GRIN2B	1.40
518	Lissencephaly 7 with cerebellar hypoplasia	Enrichment	CDK5	1.40
519	Spinocerebellar ataxia 41	Enrichment	TRPC3	1.40
520	Acrogeria, gottron type	Enrichment	COL3A1	1.40
521	Epiphyseal dysplasia, multiple, 6	Enrichment	COL9A1	1.40
522	Achondrogenesis, type ii	Enrichment	COL2A1	1.40
523	Atrial fibrillation, familial, 14	Enrichment	SCN2B	1.40
524	Cerebral cavernous malformations 4	Enrichment	PIK3CA	1.40
525	Visceral neuropathy, familial, 2, autosomal recessive	Enrichment	ERBB2	1.40
526	Noonan syndrome 13	Enrichment	MAPK1	1.40
527	Leber congenital amaurosis with early-onset deafness	Enrichment	TUBB4B	1.40
528	Corpus callosum, partial agenesis of, x-linked	Enrichment	L1CAM	1.40
529	Hydrocephalus, congenital, x-linked	Enrichment	L1CAM	1.40
530	Deafness, autosomal dominant 88	Enrichment	EPHA10	1.40
531	Neurodevelopmental disorder with speech impairment and with or without seizures	Enrichment	CACNA1I	1.40
532	Epiphyseal dysplasia, multiple, 2	Enrichment	COL9A2	1.40
533	Deafness, autosomal dominant 4a	Enrichment	MYH14	1.40
534	Congenital myopathy 18	Enrichment	CACNA1S	1.40
535	Ullrich congenital muscular dystrophy 1b	Enrichment	COL6A2	1.40
536	Short syndrome	Enrichment	PIK3R1	1.40
537	Spherocytosis, type 3	Enrichment	SPTA1	1.40
538	Myoclonus, familial, 2	Enrichment	SCN8A	1.40
539	Craniofrontonasal syndrome	Enrichment	EFNB1	1.40
540	Lissencephaly, x-linked, 1	Enrichment	DCX	1.40
541	Fetomaternal alloimmune thrombocytopenia 2	Enrichment	ITGA2B	1.40
542	Hemochromatosis, type 2a	Enrichment	HJV	1.40
543	Congenital smooth muscle hamartoma, with or without hemihypertrophy	Enrichment	ACTB	1.40
544	Immune dysregulation, autoimmunity, and autoinflammation	Enrichment	PLCG1	1.40
545	Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia	Enrichment	ARPC1B	1.40
546	Spongiform encephalopathy with neuropsychiatric features	Enrichment	PRNP	1.40
547	Developmental and epileptic encephalopathy 62	Enrichment	SCN3A	1.40
548	Osteofibrous dysplasia	Enrichment	MET	1.40
549	Long qt syndrome 4	Enrichment	ANK2	1.40
550	Spondyloperipheral dysplasia	Enrichment	COL2A1	1.40
551	Myosclerosis, autosomal recessive	Enrichment	COL6A2	1.40
552	Porencephaly	Enrichment	COL4A1	1.40
553	Ullrich congenital muscular dystrophy 1c	Enrichment	COL6A3	1.40
554	Intellectual developmental disorder, x-linked 19	Enrichment	RPS6KA3	1.40
555	Oocyte/zygote/embryo maturation arrest 24	Enrichment	TUBA1C	1.40
556	Masa syndrome	Enrichment	L1CAM	1.40
557	Atrial fibrillation, familial, 13	Enrichment	SCN1B	1.40
558	Spinocerebellar ataxia, autosomal recessive 14	Enrichment	SPTBN2	1.40
559	Developmental delay, impaired speech, and behavioral abnormalities	Enrichment	SPTBN1	1.40
560	Epiphyseal dysplasia, multiple, 3	Enrichment	COL9A3	1.40
561	Huntington disease-like 1	Enrichment	PRNP	1.40
562	Cholestasis, progressive familial intrahepatic, 11	Enrichment	SEMA7A	1.40
563	Renal hypodysplasia/aplasia 4	Enrichment	GFRA1	1.40
564	Cardiomyopathy, dilated, 1v	Enrichment	PSEN2	1.40
565	Cardiofaciocutaneous syndrome 2	Enrichment	KRAS	1.40
566	Primary aldosteronism, seizures, and neurologic abnormalities	Enrichment	CACNA1D	1.40
567	Alzheimer disease 18	Enrichment	ADAM10	1.40
568	Retinitis pigmentosa 35	Enrichment	SEMA4A	1.40
569	Deafness, autosomal recessive 97	Enrichment	MET	1.40
570	Prostate cancer/brain cancer susceptibility	Enrichment	EPHB2	1.40
571	Brugada syndrome 3	Enrichment	CACNA1C	1.40
572	Epilepsy, childhood absence 6	Enrichment	CACNA1H	1.40
573	Hemifacial myohyperplasia	Enrichment	PIK3CA	1.40
574	Lethal congenital contracture syndrome 7	Enrichment	CNTNAP1	1.40
575	Malignant hyperthermia 5	Enrichment	CACNA1S	1.40
576	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive	Enrichment	GRIN1	1.40
577	Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth	Enrichment	PIK3CA	1.40
578	Becker nevus syndrome	Enrichment	ACTB	1.40
579	Melorheostosis	Enrichment	MAP2K1	1.40
580	Dystonia-deafness syndrome 1	Enrichment	ACTB	1.40
581	Autism 9	Enrichment	MET	1.40
582	Hyperpigmentation, familial progressive, 1	Enrichment	SPTA1	1.40
583	Stickler syndrome, type i, nonsyndromic ocular	Enrichment	COL2A1	1.40
584	Episodic ataxia, type 9	Enrichment	SCN2A	1.40
585	Cortical dysplasia, complex, with other brain malformations 7	Enrichment	TUBB2B	1.40
586	Cardiomyopathy, dilated, 1u	Enrichment	PSEN1	1.40
587	Stickler syndrome, type iv	Enrichment	COL9A1	1.40
588	Intellectual developmental disorder, autosomal dominant 6, with or without seizures	Enrichment	GRIN2B	1.40
589	Lethal congenital contracture syndrome 5	Enrichment	DNM2	1.40
590	Sinoatrial node dysfunction and deafness	Enrichment	CACNA1D	1.40
591	Episodic pain syndrome, familial, 2	Enrichment	SCN10A	1.40
592	Blood group, john milton hagen system	Enrichment	SEMA7A	1.40
593	Immunodeficiency 36 with lymphoproliferation	Enrichment	PIK3R1	1.40
594	Cardiofaciocutaneous syndrome 4	Enrichment	MAP2K2	1.40
595	Familial alzheimer-like prion disease	Enrichment	PRNP	1.40
596	Hypogonadotropic hypogonadism 16 with or without anosmia	Enrichment	SEMA3A	1.40
597	Alzheimer disease 17	Enrichment	TREM2	1.40
598	Peripheral neuropathy, myopathy, hoarseness, and hearing loss	Enrichment	MYH14	1.40
599	Oocyte/zygote/embryo maturation arrest 23	Enrichment	TUBA4A	1.40
600	Reticulate acropigmentation of kitamura	Enrichment	ADAM10	1.40
601	Spinocerebellar ataxia 37	Enrichment	DAB1	1.40
602	Benign familial infantile epilepsy	Enrichment	SCN2A	1.40
603	Frontotemporal dementia and/or amyotrophic lateral sclerosis 9	Enrichment	TUBA4A	1.40
604	Synovitis	Enrichment	RELN	1.40
605	Immunodeficiency 14b, autosomal recessive	Enrichment	PIK3CD	1.40
606	Brugada syndrome 7	Enrichment	SCN3B	1.40
607	Dystonia 27	Enrichment	COL6A3	1.40
608	Agammaglobulinemia 7, autosomal recessive	Enrichment	PIK3R1	1.40
609	Hirschsprung disease 3	Enrichment	GDNF	1.40
610	Acne inversa, familial, 2, with or without dowling-degos disease	Enrichment	PSENEN	1.40
611	Developmental and epileptic encephalopathy 101	Enrichment	GRIN1	1.40
612	Immunodeficiency 105, severe combined	Enrichment	PTPRC	1.40
613	Spinocerebellar ataxia 42	Enrichment	CACNA1G	1.40
614	Acne inversa, familial, 3	Enrichment	PSEN1	1.40
615	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	Enrichment	GRIN1	1.40
616	Stickler syndrome, type v	Enrichment	COL9A2	1.40
617	Epilepsy, familial focal, with variable foci 4	Enrichment	SCN3A	1.40
618	Hartsfield syndrome	Enrichment	FGFR1	1.40
619	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	Enrichment	CACNA1G	1.40
620	Prion disease	Enrichment	PRNP	1.40
621	Bleeding disorder, platelet-type, 22	Enrichment	EPHB2	1.40
622	8p11.2 deletion syndrome	Enrichment	ANK1	1.40
623	Spherocytosis, type 2	Enrichment	SPTB	1.40
624	Hyperaldosteronism, familial, type iv	Enrichment	CACNA1H	1.40
625	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	Enrichment	TUBB6	1.40
626	Okur-chung neurodevelopmental syndrome	Enrichment	CSNK2A1	1.40
627	Autoinflammatory disease, systemic, with vasculitis	Enrichment	LYN	1.40
628	Thrombocytopenia 8, with dysmorphic features and developmental delay	Enrichment	ACTB	1.40
629	Neuropathy, congenital hypomyelinating, 3	Enrichment	CNTNAP1	1.40
630	Qualitative or quantitative defects of collagen 6	Enrichment	COL6A2	1.40
631	Neurodevelopmental disorder with language delay and seizures	Enrichment	TIAM1	1.40
632	Intellectual developmental disorder, autosomal dominant 63, with macrocephaly	Enrichment	TRIO	1.40
633	Cd45 deficiency	Enrichment	PTPRC	1.40
634	Elliptocytosis 3	Enrichment	SPTB	1.40
635	Neurodevelopmental disorder with neuromuscular and skeletal abnormalities	Enrichment	NRCAM	1.40
636	Muscular channelopathy	Enrichment	SCN4A	1.40
637	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2	Enrichment	TREM2	1.40
638	Vitreoretinopathy with phalangeal epiphyseal dysplasia	Enrichment	COL2A1	1.40
639	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia	Enrichment	PIK3CA	1.40
640	Neurodevelopmental disorder with central and peripheral motor dysfunction	Enrichment	NFASC	1.40
641	Ritscher-schinzel syndrome 4	Enrichment	DPYSL5	1.40
642	Bethlem myopathy 1b	Enrichment	COL6A2	1.40
643	Macrothrombocytopenia, isolated, 2, autosomal dominant	Enrichment	TUBA8	1.40
644	Dworschak-punetha neurodevelopmental syndrome	Enrichment	PLXNA1	1.40
645	Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia	Enrichment	SPTAN1	1.40
646	Arthrogryposis, distal, type 11	Enrichment	MET	1.40
647	Developmental delay with or without epilepsy	Enrichment	SPTAN1	1.40
648	Baraitser-winter syndrome	Enrichment	ACTB	1.40
649	Lissencephaly due to tuba1a mutation	Enrichment	TUBA1A	1.40
650	Cerebellar hypoplasia	Enrichment	VLDLR	1.40
651	Col4a1-related disorders	Enrichment	COL4A1	1.40
652	Congenital myopathy 26	Enrichment	TUBA4A	1.40
653	Dcx-related disorders	Enrichment	DCX	1.40
654	Spastic ataxia 11, autosomal dominant	Enrichment	TUBA4A	1.40
655	Kcnq3-related disorders	Enrichment	KCNQ3	1.40
656	Amyotrophic lateral sclerosis type 22	Enrichment	TUBA4A	1.40
657	Neuronopathy, distal hereditary motor, autosomal dominant 11	Enrichment	SPTAN1	1.40
658	Symptomatic form of coffin-lowry syndrome in female carriers	Enrichment	RPS6KA3	1.40
659	Congenital insensitivity to pain with severe intellectual disability	Enrichment	CLTCL1	1.40
660	Autosomal dominant charcot-marie-tooth disease type 2m	Enrichment	DNM2	1.40
661	Hypospadias	Enrichment	PIK3CA	1.40
662	Bethlem myopathy 1c	Enrichment	COL6A3	1.40
663	Retinal lattice degeneration	Enrichment	COL9A3	1.40
664	Craniodigital syndrome and intellectual disability syndrome	Enrichment	CSNK2B	1.40
665	Grin2b-related neurodevelopmental disorder	Enrichment	GRIN2B	1.40
666	Conn's syndrome	Enrichment	CACNA1H	1.40
667	Autosomal dominant nonsyndromic hearing loss 17	Enrichment	MYH9	1.40
668	Congenital pulmonary airway malformation	Enrichment	KRAS	1.40
669	Thyroid cancer	Enrichment	RET	1.40
670	Autosomal dominant rhegmatogenous retinal detachment	Enrichment	COL2A1	1.40
671	Polymicrogyria with optic nerve hypoplasia	Enrichment	TUBA8	1.40
672	Rare venous malformation	Enrichment	PIK3CA	1.40
673	Prp systemic amyloidosis	Enrichment	PRNP	1.40
674	Fetomaternal alloimmune thrombocytopenia 3	Enrichment	ITGA2	1.40
675	Col4a1 or col4a2-related cerebral small vessel disease	Enrichment	COL4A1	1.40
676	Multiple epiphyseal dysplasia with myopia and deafness	Enrichment	COL2A1	1.40
677	Immune dysregulation, neurodevelopmental defects, and colitis	Enrichment	ITGAV	1.40
678	Gorham's disease	Enrichment	RASA1	1.40
679	Diaphragmatic eventration	Enrichment	PIK3CA	1.40
680	Hypochondrogenesis	Enrichment	COL2A1	1.40
681	Congenital smooth muscle hamartoma	Enrichment	ACTB	1.40
682	Capillary leak syndrome	Enrichment	TLN1	1.40
683	Pneumothorax	Enrichment	COL5A1	1.40
684	Pik3ca-related overgrowth spectrum	Enrichment	PIK3CA	1.40
685	Developmental malformations-deafness-dystonia syndrome	Enrichment	ACTB	1.40
686	Atypical timothy syndrome	Enrichment	CACNA1C	1.40
687	Aldosterone-producing adenoma with seizures and neurological abnormalities	Enrichment	CACNA1D	1.40
688	X-linked complicated spastic paraplegia type 1	Enrichment	L1CAM	1.40
689	Inherited human prion disease	Enrichment	PRNP	1.40
690	Dysspondyloenchondromatosis	Enrichment	COL2A1	1.40
691	Rare combined vascular malformation	Enrichment	PIK3CA	1.40
692	Abdominal aortic aneurysm	Enrichment	COL3A1	1.40
693	Cavernous lymphangioma	Enrichment	PIK3CA	1.40
694	Intellectual disability, autosomal dominant 8	Enrichment	GRIN1	1.40
695	Pik3ca-related overgrowth syndrome	Enrichment	PIK3CA	1.40
696	Timothy syndrome type 2	Enrichment	CACNA1C	1.40
697	Kcnq2-related disorders	Enrichment	KCNQ2	1.40
698	Phakomatosis pigmentokeratotica	Enrichment	HRAS	1.40
699	Pash syndrome	Enrichment	NCSTN	1.40
700	Periodic paralysis with transient compartment-like syndrome	Enrichment	CACNA1S	1.40
701	Huntington's disease-like	Enrichment	PSEN2	1.40
702	Silver-russell syndrome due to maternal uniparental disomy of chromosome 7	Enrichment	GRB10	1.40
703	Type 2 collagen-related bone disorder	Enrichment	COL2A1	1.40
704	Hartsfield-bixler-demyer syndrome	Enrichment	FGFR1	1.40
705	Hemihyperplasia-multiple lipomatosis syndrome	Enrichment	PIK3CA	1.40
706	Eccrine angiomatous hamartoma	Enrichment	PIK3CA	1.40
707	Timothy syndrome type 1	Enrichment	CACNA1C	1.40
708	Macrodactyly of toe	Enrichment	PIK3CA	1.40
709	Serous carcinoma of the corpus uteri	Enrichment	ERBB2	1.40
710	Ephb4-related lymphatic-related hydrops fetalis	Enrichment	EPHB4	1.40
711	Neurocutaneous melanocytosis	Enrichment	NRAS	1.40
712	Inherited creutzfeldt-jakob disease	Enrichment	PRNP	1.40
713	Temporomandibular joint anomaly	Enrichment	DOCK1	1.40
714	Gastrointestinal system disease	Enrichment	RET	1.40
715	Cacna1c-related disorders	Enrichment	CACNA1C	1.40
716	Vein of galen aneurysmal malformation	Enrichment	EPHB4	1.40
717	Malignant astrocytoma	Enrichment	PTPN11	1.40
718	Multiple endocrine neoplasia	Enrichment	RET	1.40
719	Charcot-marie-tooth disease and deafness	Enrichment	PMP22	1.39
720	Guillain-barre syndrome, familial	Enrichment	PMP22	1.39
721	Charcot-marie-tooth disease, demyelinating, type 1d	Enrichment	EGR2	1.39
722	Charcot-marie-tooth disease, axonal, type 2j	Enrichment	MPZ	1.39
723	Neuropathy, hereditary, with liability to pressure palsies	Enrichment	PMP22	1.39
724	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development	Enrichment	YAP1	1.39
725	Uveal coloboma-cleft lip and palate-intellectual disability	Enrichment	YAP1	1.39
726	Febrile seizures, familial, 4	Enrichment	ADGRV1	1.39
727	Charcot-marie-tooth disease, dominant intermediate d	Enrichment	MPZ	1.39
728	Charcot-marie-tooth disease, axonal, type 2i	Enrichment	MPZ	1.39
729	Deafness, autosomal dominant 79	Enrichment	SCD5	1.39
730	Smarca4-deficient sarcoma of thorax	Enrichment	SMARCA4	1.39
731	Ovarian small cell carcinoma	Enrichment	SMARCA4	1.39
732	Lethal congenital contracture syndrome 9	Enrichment	ADGRG6	1.39
733	Spastic paraplegia 75, autosomal recessive	Enrichment	MAG	1.39
734	Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome	Enrichment	CYP51A1	1.39
735	Autosomal dominant intermediate charcot-marie-tooth disease with neuropathic pain	Enrichment	MPZ	1.39
736	Low density lipoprotein cholesterol level quantitative trait locus 3	Enrichment	HMGCR	1.39
737	Charcot-marie-tooth disease type 2i	Enrichment	MPZ	1.39
738	Muscular dystrophy, limb-girdle, autosomal recessive 28	Enrichment	HMGCR	1.39
739	Charcot-marie-tooth disease type 1d	Enrichment	EGR2	1.39
740	Charcot-marie-tooth disease type 2j	Enrichment	MPZ	1.39
741	Laminin subunit alpha 2-related muscular dystrophy	Enrichment	LAMA2	1.39
742	Ovarian cancer	Enrichment	AKT1, BRCA1, CDKN2A, CTNNB1, DICER1, EGFR, ERBB2, HNF1A, HNF1B, KIT, KRAS, MET, PIK3CA, RET, SMARCB1, TP53, WT1	1.36
743	Acute promyelocytic leukemia	Enrichment	PML, RARA, STAT3, TBL1XR1	1.35
744	T-cell acute lymphoblastic leukemia	Enrichment	ABL1	1.35
745	Amyotrophy, monomelic	Enrichment	SLIT1	1.34
746	Microtia-anotia	Enrichment	HOXA2	1.34
747	Myoclonic-atonic epilepsy	Enrichment	AP2M1, SCN1A	1.33
748	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Enrichment	CACNA1C, RAC1	1.33
749	Congenital central hypoventilation syndrome	Enrichment	GDNF, RET	1.33
750	Progressive non-fluent aphasia	Enrichment	PSEN1, TREM2	1.33
751	Familial thoracic aortic aneurysm and dissection	Enrichment	COL3A1, MYH11	1.33
752	Behavioral variant of frontotemporal dementia	Enrichment	PSEN1, TREM2	1.33
753	Pancreatic cancer	Enrichment	ACVR1B, BRCA1, CDKN2A, KRAS, SMAD4, TP53	1.33
754	Erythrokeratodermia variabilis et progressiva 1	Enrichment	GJB3, KRT83, LORICRIN	1.33
755	Renal hypodysplasia/aplasia 1	Enrichment	ITGA8, RET, WNT9B	1.33
756	Hypoplastic left heart syndrome	Enrichment	NKX2-5, NOTCH1, TBX20	1.33
757	Isolated split hand-split foot malformation	Enrichment	DLX5, SEM1, WNT10B	1.33
758	Diffuse large b-cell lymphoma	Enrichment	CREBBP, FOXO1, STAT3, TBL1XR1, TP53	1.32
759	Hypertelorism	Enrichment	COL11A1, COL1A1, EFNB1, MED13L, MYH10, PAX6, PIK3CA, RET, RPS6KA3, TFAP2A	1.30
760	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	ACTG1, COL11A1, COL11A2, GJB3, KITLG, MCM2, MITF, MYH14, MYH9, SIX1	1.30
761	Polymicrogyria	Enrichment	PSMC3, SCN3A	1.25
762	Familial isolated dilated cardiomyopathy	Enrichment	CAP2, PSEN1, PSEN2, RPL3L, SCN5A	1.25
763	Osteoporosis	Enrichment	COL1A1, COL1A2, SRC, WNT1	1.25
764	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Enrichment	CDH2, DSC2, JUP, PKP2	1.25
765	Hemangioma	Enrichment	RPL5	1.24
766	Macs syndrome	Enrichment	ALDH1A3, OTX2, PAX6, SHH, SOX2	1.24
767	Mirror movements 1	Enrichment	NTN1	1.23
768	Knobloch syndrome	Enrichment	PAK2	1.23
769	Gingival fibromatosis	Enrichment	SOS1	1.23
770	Male infertility due to gonadal dysgenesis or sperm disorder	Enrichment	SOS2	1.23
771	Ehlers-danlos syndrome, arthrochalasia type, 1	Enrichment	COL1A1, COL1A2	1.22
772	Epidermolysis bullosa simplex 1b, generalized intermediate	Enrichment	KRT14, KRT5	1.22
773	Aniridia 1	Enrichment	PAX6, WT1	1.22
774	Branchiooculofacial syndrome	Enrichment	EYA1, TFAP2A	1.22
775	Dowling-degos disease 1	Enrichment	ADAM10, KRT5	1.22
776	Diffuse gastric and lobular breast cancer syndrome	Enrichment	CTNNA1, KRAS	1.22
777	Nicolaides-baraitser syndrome	Enrichment	ARID1B, SMARCA2	1.22
778	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Enrichment	AKT3, PIK3R2	1.22
779	Aminoacylase 1 deficiency	Enrichment	ACTB, ZNF335	1.22
780	Leptin deficiency or dysfunction	Enrichment	LEP, PPARG	1.22
781	Blepharophimosis	Enrichment	ARID1B, SMARCA2	1.22
782	Multiple synostoses syndrome	Enrichment	FGF9, NOG	1.22
783	Dowling-degos disease	Enrichment	KRT5, PSENEN	1.22
784	Epidermolysis bullosa simplex generalized type	Enrichment	KRT14, KRT5	1.22
785	Embryonal rhabdomyosarcoma	Enrichment	DICER1, TP53	1.22
786	Blood platelet disease	Enrichment	CD36, RUNX1	1.22
787	Epidermolytic nevus	Enrichment	HRAS, KRT10	1.22
788	Epidermolytic hyperkeratosis	Enrichment	KRT1, KRT10	1.22
789	Episodic ataxia	Enrichment	LGI3, SCN2A	1.22
790	Smarca2-related nicolaides-baraitser syndrome	Enrichment	ARID1B, SMARCA2	1.22
791	Coronary artery anomaly	Enrichment	CELA2A, LPL	1.22
792	Osteogenesis imperfecta with normal sclerae, dominant form	Enrichment	COL1A1, COL1A2	1.22
793	Mitral valve insufficiency	Enrichment	MYH11, TBX5	1.22
794	Non-syndromic bicoronal craniosynostosis	Enrichment	TCF12, ZIC1	1.22
795	Transposition of the great arteries	Enrichment	GATA4, GDF1	1.22
796	Middle aortic syndrome	Enrichment	GATA6, JAG1	1.22
797	Clear cell papillary renal cell carcinoma	Enrichment	HNF1A, MITF	1.22
798	Familial isolated arrhythmogenic right ventricular dysplasia	Enrichment	DSC2, PKP2, SCN5A	1.19
799	Strabismus	Enrichment	FOXP1, KMT2D, MED13L, PCDH19, PTPN11, TYR	1.19
800	Epilepsy, myoclonic juvenile	Enrichment	CACNB4, KCNQ3	1.17
801	Frontotemporal dementia 1	Enrichment	PSEN1, TREM2	1.17
802	Familial colorectal cancer type x	Enrichment	RPS20, SEMA4A	1.17
803	Pancytopenia	Enrichment	RPL17	1.17
804	Anterior segment dysgenesis	Enrichment	COL4A1, FOXC1, PAX6, PXDN	1.15
805	Lynch syndrome	Enrichment	CFTR, EPCAM, KRAS, PIK3CA	1.15
806	Epilepsy, idiopathic generalized	Enrichment	ADGRV1, CACNA1H	1.14
807	Knobloch syndrome 1	Enrichment	PAK2	1.13
808	Seizures, benign familial neonatal, 1	Enrichment	KCNQ2	1.11
809	Cri-du-chat syndrome	Enrichment	SEMA5A	1.11
810	Ehlers-danlos syndrome, vascular type	Enrichment	COL3A1	1.11
811	Lymphatic malformation 1	Enrichment	EPHB4	1.11
812	Aortic aneurysm, familial thoracic 4	Enrichment	MYH11	1.11
813	Atrial standstill 1	Enrichment	SCN5A	1.11
814	Ehlers-danlos syndrome, hypermobility type	Enrichment	COL3A1	1.11
815	Progressive familial heart block, type ia	Enrichment	SCN5A	1.11
816	Dystonia 4, torsion, autosomal dominant	Enrichment	TUBB4A	1.11
817	Paramyotonia congenita	Enrichment	SCN4A	1.11
818	Scoliosis, isolated 1	Enrichment	MAPK7	1.11
819	Costello syndrome	Enrichment	HRAS	1.11
820	Batten-turner congenital myopathy	Enrichment	SCN4A	1.11
821	Intellectual developmental disorder, x-linked, syndromic, raymond type	Enrichment	SPTAN1	1.11
822	Indifference to pain, congenital, autosomal recessive	Enrichment	SCN9A	1.11
823	Intracranial hypertension, idiopathic	Enrichment	EPHB4	1.11
824	Timothy syndrome	Enrichment	CACNA1C	1.11
825	Cataract 35	Enrichment	MYH9	1.11
826	Alzheimer disease 3	Enrichment	PSEN1	1.11
827	Lethal congenital contracture syndrome 3	Enrichment	PIP5K1C	1.11
828	Histiocytoma, angiomatoid fibrous	Enrichment	CREB1	1.11
829	Sick sinus syndrome 1	Enrichment	SCN5A	1.11
830	Myotonia, potassium-aggravated	Enrichment	SCN4A	1.11
831	Pick disease of brain	Enrichment	PSEN1	1.11
832	Legg-calve-perthes disease	Enrichment	COL2A1	1.11
833	Deafness, autosomal recessive 28	Enrichment	TRIO	1.11
834	Deafness, autosomal dominant 20	Enrichment	ACTG1	1.11
835	Keratosis, seborrheic	Enrichment	PIK3CA	1.11
836	Pfeiffer syndrome	Enrichment	FGFR1	1.11
837	Jackson-weiss syndrome	Enrichment	FGFR1	1.11
838	Lissencephaly 1	Enrichment	LAMB1	1.11
839	Creutzfeldt-jakob disease	Enrichment	PRNP	1.11
840	Roifman-chitayat syndrome	Enrichment	PIK3CD	1.11
841	Baraitser-winter syndrome 2	Enrichment	ACTG1	1.11
842	Epilepsy, early-onset, 5, with or without developmental delay	Enrichment	CNTN2	1.11
843	Chudley-mccullough syndrome	Enrichment	SPTB	1.11
844	Specific language impairment 5	Enrichment	COL4A4	1.11
845	Atrial fibrillation, familial, 10	Enrichment	SCN5A	1.11
846	Muscular dystrophy, limb-girdle, autosomal recessive 3	Enrichment	TUBA1A	1.11
847	Noonan syndrome 8	Enrichment	PIK3CA	1.11
848	Migraine, familial hemiplegic, 3	Enrichment	SCN1A	1.11
849	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	Enrichment	SPTBN4	1.11
850	Cognitive impairment with or without cerebellar ataxia	Enrichment	SCN8A	1.11
851	Long qt syndrome 3	Enrichment	SCN5A	1.11
852	Long qt syndrome 8	Enrichment	CACNA1C	1.11
853	Developmental and epileptic encephalopathy 6b	Enrichment	SCN1A	1.11
854	Megacystis-microcolon-intestinal hypoperistalsis syndrome 2	Enrichment	MYH11	1.11
855	Sinoatrial node disease	Enrichment	SCN5A	1.11
856	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	Enrichment	COL4A2	1.11
857	Myopia 28, autosomal recessive	Enrichment	DOK1	1.11
858	Stickler syndrome, type vi	Enrichment	COL9A3	1.11
859	Fibromuscular dysplasia, multifocal	Enrichment	COL5A1	1.11
860	Developmental delay, language impairment, and ocular abnormalities	Enrichment	ARPC4	1.11
861	Dystonia 30	Enrichment	PTPRA	1.11
862	Intellectual developmental disorder, x-linked 90	Enrichment	DLG3	1.11
863	Werner syndrome	Enrichment	PTPN11	1.11
864	Congenital myopathy 22a, classic	Enrichment	SCN4A	1.11
865	Poirier-bienvenu neurodevelopmental syndrome	Enrichment	CSNK2B	1.11
866	Congenital myopathy 22b, severe fetal	Enrichment	SCN4A	1.11
867	Keratoconus 9	Enrichment	TUBA3D	1.11
868	Polymicrogyria with or without vascular-type ehlers-danlos syndrome	Enrichment	COL3A1	1.11
869	Congenital heart defects, multiple types, 9	Enrichment	PLXND1	1.11
870	Myasthenic syndrome, congenital, 16	Enrichment	SCN4A	1.11
871	Autosomal recessive limb-girdle muscular dystrophy type 2d	Enrichment	TUBA1A	1.11
872	Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome	Enrichment	VLDLR	1.11
873	Bilateral generalized polymicrogyria	Enrichment	GRIN1	1.11
874	Lissencephaly 3	Enrichment	TUBA1A	1.11
875	Aortic dissection	Enrichment	COL3A1	1.11
876	Delayed puberty, self-limited	Enrichment	SEMA6A	1.11
877	Vulto-van silfhout-de vries syndrome	Enrichment	DLG4	1.11
878	Developmental and epileptic encephalopathy 30	Enrichment	SCN2A	1.11
879	Glomerulonephritis	Enrichment	COL4A4	1.11
880	Metaphyseal anadysplasia 2	Enrichment	MMP9	1.11
881	Medullary thyroid carcinoma	Enrichment	RET	1.11
882	Immunodeficiency 104, severe combined	Enrichment	PTPRC	1.11
883	Congenital hemolytic anemia	Enrichment	SPTA1	1.11
884	Cortical dysplasia, complex, with other brain malformations 1	Enrichment	TUBB3	1.11
885	Ichthyosis, congenital, autosomal recessive 10	Enrichment	KCNQ2	1.11
886	Intellectual developmental disorder, autosomal dominant 60, with seizures	Enrichment	AP2M1	1.11
887	Immunodeficiency 113 with autoimmunity and autoinflammation	Enrichment	ARPC5	1.11
888	Familial avascular necrosis of the femoral head	Enrichment	COL2A1	1.11
889	Pseudosarcomatous fibromatosis	Enrichment	MYH9	1.11
890	Visceral myopathy 2	Enrichment	MYH11	1.11
891	Congenital disorder of glycosylation, type iw, autosomal dominant	Enrichment	CACNA1D	1.11
892	Hypokalemic periodic paralysis, type 2	Enrichment	SCN4A	1.11
893	Scn1a seizure disorders	Enrichment	SCN1A	1.11
894	Hereditary lymphedema i	Enrichment	EPHB4	1.11
895	Torsion dystonia 4	Enrichment	TUBB4A	1.11
896	Buratti-harel syndrome	Enrichment	SIAH1	1.11
897	Megacystis-microcolon-intestinal hypoperistalsis syndrome 4	Enrichment	MYL9	1.11
898	Interfrontal craniofaciosynostosis	Enrichment	FGFR1	1.11
899	Metaphyseal anadysplasia	Enrichment	MMP9	1.11
900	Hemochromatosis type 2	Enrichment	HJV	1.11
901	Malignant migrating partial seizures of infancy	Enrichment	SCN2A	1.11
902	Developmental and epileptic encephalopathy 76	Enrichment	SCN1A	1.11
903	Arthritis	Enrichment	RELN	1.11
904	Immunodeficiency 133	Enrichment	ARPC5	1.11
905	Small fiber neuropathy	Enrichment	SCN9A	1.11
906	Isolated atrial standstill	Enrichment	SCN5A	1.11
907	Hjv or hamp-related hemochromatosis	Enrichment	HJV	1.11
908	Continuous spikes and waves during sleep	Enrichment	TUBA1A	1.11
909	Wooly hair nevus	Enrichment	HRAS	1.11
910	Congenital long qt syndrome	Enrichment	PTPN11, SCN5A	1.10
911	Postsynaptic congenital myasthenic syndromes	Enrichment	AGRN, SCN4A	1.10
912	Nonsyndromic hearing loss	Enrichment	ACTG1, COL11A2, EPHA10, GJB3, KARS1, MITF, MYH14, RDX	1.10
913	Charcot-marie-tooth disease, demyelinating, type 1a	Enrichment	PMP22	1.09
914	Charcot-marie-tooth disease, demyelinating, type 1b	Enrichment	MPZ	1.09
915	Hemangiopericytoma, malignant	Enrichment	NAB2	1.09
916	Rhabdoid tumor predisposition syndrome 2	Enrichment	SMARCA4	1.09
917	Usher syndrome, type iic	Enrichment	ADGRV1	1.09
918	Charcot-marie-tooth disease, demyelinating, type 4f	Enrichment	PRX	1.09
919	Neuropathy, congenital hypomyelinating, 2	Enrichment	MPZ	1.09
920	Charcot-marie-tooth disease type 1b	Enrichment	MPZ	1.09
921	Spinocerebellar ataxia 46	Enrichment	PRX	1.09
922	Charcot-marie-tooth disease type 1a	Enrichment	PMP22	1.09
923	Otosclerosis 12	Enrichment	SMARCA4	1.09
924	Coffin-siris syndrome 4	Enrichment	SMARCA4	1.09
925	Charcot-marie-tooth disease type 4f	Enrichment	PRX	1.09
926	Hydrops fetalis, nonimmune	Enrichment	EPHB4, HRAS, PTPN11	1.09
927	Tooth agenesis	Enrichment	FGFR1, MSX1, SUMO1, TGFA, WNT10B	1.09
928	Rare genetic deafness	Enrichment	ACTG1, ADGRV1, COL11A2, COL4A5, DIAPH1, EDNRB, EYA1, MITF, MYH9, PAX3, POLR2F, RDX, SOX10	1.09
929	Cat eye syndrome	Enrichment	ACTG1, PAX6, TFAP2A	1.07
930	Leukemia, chronic lymphocytic	Enrichment	CCND1, RPS15, TP53	1.07
931	Melanoma	Enrichment	CDKN2A, MC1R, MITF	1.07
932	Wolff-parkinson-white syndrome	Enrichment	JUP, NODAL, SCN5A, TBX20	1.06
933	Arrhythmogenic right ventricular cardiomyopathy	Enrichment	DSC2, JUP, PKP2, SCN5A	1.06
934	Rhabdomyosarcoma	Enrichment	BRCA1, DICER1, HRAS, TP53	1.06
935	Gliosarcoma	Enrichment	EGFR, FGFR1, PPARG, TP53	1.06
936	Nephrotic syndrome	Enrichment	COL4A3, COL4A4, COL4A5, TRPC6	1.06
937	Chronic kidney disease	Enrichment	COL4A4, COL4A5	1.04
938	Epidermolysis bullosa simplex 2f, with mottled pigmentation	Enrichment	KRT14, KRT5	1.03
939	Epidermolysis bullosa simplex 1a, generalized severe	Enrichment	KRT14, KRT5	1.03
940	Hyperlipidemia, familial combined, 3	Enrichment	LPL, USF1	1.03
941	Arrhythmogenic right ventricular dysplasia, familial, 1	Enrichment	DSC2, PKP2	1.03
942	Albinism, oculocutaneous, type ii	Enrichment	MC1R, TYRP1	1.03
943	Hypogonadotropic hypogonadism 1 with or without anosmia	Enrichment	POLR2F, SOX10	1.03
944	Ventricular septal defect 1	Enrichment	BMP7, GATA4	1.03
945	Cholangitis, primary sclerosing	Enrichment	SEMA4D, TCF4	1.03
946	Fuchs' endothelial dystrophy	Enrichment	TCF4, ZEB1	1.03
947	Amblyopia	Enrichment	KMT2D, TFAP2A	1.03
948	Arrhythmogenic right ventricular dysplasia 1	Enrichment	DSC2, PKP2	1.03
949	Histiocytoid hemangioma	Enrichment	VIM, ZFP36L2	1.03
950	Acute megakaryocytic leukemia	Enrichment	KMT2A, TP53	1.03
951	Hemimegalencephaly	Enrichment	AKT3, PIK3CA	1.03
952	Coloboma of choroid and retina	Enrichment	ACTG1, PAX6	1.03
953	Endometrial stromal sarcoma	Enrichment	SUZ12, YWHAE	1.03
954	Hypotrichosis simplex	Enrichment	RPL21	1.00
955	Myelofibrosis	Enrichment	SRC	1.00
956	Moyamoya angiopathy	Enrichment	ABL1	1.00
957	Walker-warburg syndrome	Enrichment	COL4A1, DAG1	0.99
958	Cataract	Enrichment	COL5A1, EPHA2	0.99
959	Giant cell glioblastoma	Enrichment	EGFR, FGFR1, PPARG, TP53	0.98
960	Nanophthalmos	Enrichment	ALDH1A3, OTX2, SOX2	0.97
961	Ichthyosis	Enrichment	FLG, ST14, TGM1	0.97
962	Ichthyosis hystrix, curth-macklin type	Enrichment	KRT1	0.96
963	Holoprosencephaly 3	Enrichment	SHH	0.96
964	Palmoplantar keratoderma, punctate type ii	Enrichment	BRCA1	0.96
965	Adenosine triphosphate, elevated, of erythrocytes	Enrichment	PKLR	0.96
966	Dermatopathia pigmentosa reticularis	Enrichment	KRT14	0.96
967	Multicentric carpotarsal osteolysis syndrome	Enrichment	MAFB	0.96
968	Craniofacial-deafness-hand syndrome	Enrichment	PAX3	0.96
969	Neuromyotonia and axonal neuropathy, autosomal recessive	Enrichment	HINT1	0.96
970	Proteus syndrome	Enrichment	AKT1	0.96
971	Insulinomatosis and diabetes mellitus	Enrichment	MAFA	0.96
972	Frontonasal dysplasia 1	Enrichment	ALX3	0.96
973	Atrial septal defect 7 with or without atrioventricular conduction defects	Enrichment	NKX2-5	0.96
974	Hepatic adenomas, familial	Enrichment	HNF1A	0.96
975	Pachyonychia congenita 2	Enrichment	KRT17	0.96
976	Deafness, congenital, with onychodystrophy, autosomal dominant	Enrichment	ATP6V1B2	0.96
977	Waardenburg syndrome, type 3	Enrichment	PAX3	0.96
978	46,xy sex reversal 4	Enrichment	DMRT1	0.96
979	Mullerian aplasia and hyperandrogenism	Enrichment	WNT4	0.96
980	46,xy sex reversal 7	Enrichment	DHH	0.96
981	Velocardiofacial syndrome	Enrichment	TBX1	0.96
982	Hypoinsulinemic hypoglycemia with hemihypertrophy	Enrichment	AKT2	0.96
983	Ehlers-danlos syndrome, cardiac valvular type	Enrichment	COL1A2	0.96
984	Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive	Enrichment	DLX5	0.96
985	Leukodystrophy, hypomyelinating, 3	Enrichment	AIMP1	0.96
986	Pancreatic agenesis 1	Enrichment	PDX1	0.96
987	Stapes ankylosis with broad thumbs and toes	Enrichment	NOG	0.96
988	Tarsal-carpal coalition syndrome	Enrichment	NOG	0.96
989	Hypertelorism and tetralogy of fallot	Enrichment	FOXC1	0.96
990	Torticollis	Enrichment	ACTL6A	0.96
991	Anemia, congenital, nonspherocytic hemolytic, 2	Enrichment	PKLR	0.96
992	Woolly hair, autosomal dominant	Enrichment	KRT74	0.96
993	Nystagmus 6, congenital, x-linked	Enrichment	GPR143	0.96
994	Hypothyroidism, congenital, nongoitrous, 5	Enrichment	NKX2-5	0.96
995	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	Enrichment	PCK1	0.96
996	Rhabdomyosarcoma, embryonal, 2	Enrichment	DICER1	0.96
997	Ichthyosis, congenital, autosomal recessive 11	Enrichment	ST14	0.96
998	Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities	Enrichment	GSC	0.96
999	Spermatogenic failure, x-linked, 9	Enrichment	RBBP7	0.96
1000	Loose anagen hair syndrome	Enrichment	KRT75	0.96
1001	Palmoplantar keratoderma, nonepidermolytic	Enrichment	KRT1	0.96
1002	Griscelli syndrome, type 2	Enrichment	RAB27A	0.96
1003	Kabuki syndrome 2	Enrichment	KDM6A	0.96
1004	Hypothyroidism, congenital, nongoitrous, 8	Enrichment	TBL1X	0.96
1005	Deafness, autosomal recessive 53	Enrichment	COL11A2	0.96
1006	Body mass index quantitative trait locus 9	Enrichment	MC3R	0.96
1007	Maturity-onset diabetes of the young, type 8, with exocrine dysfunction	Enrichment	CEL	0.96
1008	Spondylocostal dysostosis 3, autosomal recessive	Enrichment	LFNG	0.96
1009	Hyperlipidemia, familial combined, 1	Enrichment	USF1	0.96
1010	Immunodeficiency 108 with autoinflammation	Enrichment	CEBPE	0.96
1011	Maturity-onset diabetes of the young, type 4	Enrichment	PDX1	0.96
1012	Heterotaxy, visceral, 1, x-linked	Enrichment	ZIC3	0.96
1013	Arrhythmogenic right ventricular dysplasia, familial, 12	Enrichment	JUP	0.96
1014	Albinism, oculocutaneous, type ib	Enrichment	TYR	0.96
1015	Hypomagnesemia 4, renal	Enrichment	EGF	0.96
1016	Branchial cleft anomalies	Enrichment	KMT2D	0.96
1017	Coronary heart disease 7	Enrichment	CD36	0.96
1018	Macular dystrophy, patterned, 2	Enrichment	CTNNA1	0.96
1019	Vohwinkel syndrome, variant form	Enrichment	LORICRIN	0.96
1020	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs	Enrichment	WNT4	0.96
1021	Melanoma, cutaneous malignant 3	Enrichment	CDK4	0.96
1022	Skin/hair/eye pigmentation, variation in, 8	Enrichment	IRF4	0.96
1023	Mastocytosis, cutaneous	Enrichment	KIT	0.96
1024	Char syndrome	Enrichment	TFAP2B	0.96
1025	Stargardt disease 4	Enrichment	PROM1	0.96
1026	Intellectual developmental disorder, autosomal dominant 3	Enrichment	CDH15	0.96
1027	Diarrhea 4, malabsorptive, congenital, with diabetes mellitus and combined pituitary hormone deficiency	Enrichment	NEUROG3	0.96
1028	Holt-oram syndrome	Enrichment	TBX5	0.96
1029	Ichthyosis bullosa of siemens	Enrichment	KRT2	0.96
1030	Marshall syndrome	Enrichment	COL11A1	0.96
1031	Brachydactyly, type b2	Enrichment	NOG	0.96
1032	Cardiomyopathy, dilated, 1jj	Enrichment	LAMA4	0.96
1033	Maturity-onset diabetes of the young, type 6	Enrichment	NEUROD1	0.96
1034	Maturity-onset diabetes of the young, type 2	Enrichment	GCK	0.96
1035	Infantile liver failure syndrome 1	Enrichment	LARS1	0.96
1036	Heterochromia iridis	Enrichment	MITF	0.96
1037	Hyperpigmentation with or without hypopigmentation, familial progressive	Enrichment	KITLG	0.96
1038	Keloid formation	Enrichment	ASAH1	0.96
1039	Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy	Enrichment	MED23	0.96
1040	Townes-brocks syndrome 1	Enrichment	SALL1	0.96
1041	Naegeli-franceschetti-jadassohn syndrome	Enrichment	KRT14	0.96
1042	Ivic syndrome	Enrichment	SALL4	0.96
1043	Microphthalmia/coloboma 5	Enrichment	SHH	0.96
1044	Mucoepithelial dysplasia, hereditary	Enrichment	SREBF1	0.96
1045	Tietz albinism-deafness syndrome	Enrichment	MITF	0.96
1046	Otofaciocervical syndrome 1	Enrichment	EYA1	0.96
1047	Prostate cancer, hereditary, 11	Enrichment	HNF1B	0.96
1048	Deafness, autosomal dominant 1, with or without thrombocytopenia	Enrichment	DIAPH1	0.96
1049	Earlobe crease	Enrichment	FOXP1	0.96
1050	Blood group, colton system	Enrichment	AQP1	0.96
1051	Pancreatic and cerebellar agenesis	Enrichment	PTF1A	0.96
1052	Uric acid concentration, serum, quantitative trait locus 1	Enrichment	ABCG2	0.96
1053	Split-hand/foot malformation 6	Enrichment	WNT10B	0.96
1054	Fibrochondrogenesis 1	Enrichment	COL11A1	0.96
1055	Symphalangism, proximal, 1a	Enrichment	NOG	0.96
1056	Sacral agenesis with vertebral anomalies	Enrichment	TBXT	0.96
1057	Coffin-siris syndrome 5	Enrichment	SMARCE1	0.96
1058	Spinocerebellar ataxia 43	Enrichment	MME	0.96
1059	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	Enrichment	HNF4A	0.96
1060	Gand syndrome	Enrichment	GATAD2B	0.96
1061	Increased analgesia from kappa-opioid receptor agonist, female-specific	Enrichment	MC1R	0.96
1062	Macular dystrophy, retinal, 2	Enrichment	PROM1	0.96
1063	Multiple synostoses syndrome 1	Enrichment	NOG	0.96
1064	Griscelli syndrome, type 1	Enrichment	MYO5A	0.96
1065	Tooth agenesis, selective, 8	Enrichment	WNT10B	0.96
1066	Vesicoureteral reflux 3	Enrichment	SOX17	0.96
1067	Craniosynostosis 6	Enrichment	ZIC1	0.96
1068	Cutis laxa, autosomal recessive, type iid	Enrichment	ATP6V1A	0.96
1069	Bleeding disorder, platelet-type, 21	Enrichment	FLI1	0.96
1070	46,xx sex reversal 4	Enrichment	NR5A1	0.96
1071	Mitchell-riley syndrome	Enrichment	RFX6	0.96
1072	Spermatogenic failure 8	Enrichment	NR5A1	0.96
1073	Hirschsprung disease 4	Enrichment	EDN3	0.96
1074	Elejalde neuroectodermal melanolysosomal syndrome	Enrichment	MYO5A	0.96
1075	Pachyonychia congenita 3	Enrichment	KRT6A	0.96
1076	Deafness, autosomal dominant 2b	Enrichment	GJB3	0.96
1077	Facial paresis, hereditary congenital, 3	Enrichment	HOXB1	0.96
1078	Waardenburg syndrome, type 4b	Enrichment	EDN3	0.96
1079	Ichthyosis, congenital, autosomal recessive 12	Enrichment	CASP14	0.96
1080	Pseudofolliculitis barbae	Enrichment	KRT75	0.96
1081	Steatocystoma multiplex	Enrichment	KRT17	0.96
1082	Atrioventricular septal defect 4	Enrichment	GATA4	0.96
1083	Atrioventricular septal defect 5	Enrichment	GATA6	0.96
1084	Aplasia of lacrimal and salivary glands	Enrichment	FGF10	0.96
1085	White sponge nevus 1	Enrichment	KRT4	0.96
1086	Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia	Enrichment	MED27	0.96
1087	Global developmental delay with speech and behavioral abnormalities	Enrichment	TNRC6B	0.96
1088	Ectodermal dysplasia 17 with or without limb malformations	Enrichment	LEF1	0.96
1089	Holoprosencephaly 12 with or without pancreatic agenesis	Enrichment	CNOT1	0.96
1090	Naxos disease	Enrichment	JUP	0.96
1091	Abdominal obesity-metabolic syndrome 4	Enrichment	CELA2A	0.96
1092	Skin/hair/eye pigmentation, variation in, 3	Enrichment	TYR	0.96
1093	Charcot-marie-tooth disease, axonal, type 2hh	Enrichment	JAG1	0.96
1094	Coffin-siris syndrome 11	Enrichment	SMARCD1	0.96
1095	Auriculocondylar syndrome 3	Enrichment	EDN1	0.96
1096	Agammaglobulinemia 10, autosomal dominant	Enrichment	SPI1	0.96
1097	Uncombable hair syndrome 3	Enrichment	TCHH	0.96
1098	Intellectual developmental disorder, autosomal recessive 44	Enrichment	METTL23	0.96
1099	Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect	Enrichment	LGI4	0.96
1100	Helix syndrome	Enrichment	CLDN10	0.96
1101	Nephrotic syndrome, type 26	Enrichment	LAMA5	0.96
1102	Ichthyosis, annular epidermolytic, 2	Enrichment	KRT1	0.96
1103	Oocyte/zygote/embryo maturation arrest 13	Enrichment	ZFP36L2	0.96
1104	46,xy sex reversal 10	Enrichment	SOX9	0.96
1105	Hydrocephalus, congenital, 5	Enrichment	SMARCC1	0.96
1106	Impaired intellectual development and distinctive facial features with or without cardiac defects	Enrichment	MED13L	0.96
1107	Agammaglobulinemia 8b, autosomal recessive	Enrichment	TCF3	0.96
1108	Immunodeficiency 131	Enrichment	IRF4	0.96
1109	Skin/hair/eye pigmentation, variation in, 2	Enrichment	MC1R	0.96
1110	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	Enrichment	PBX1	0.96
1111	Cortical dysplasia, complex, with other brain malformations 9	Enrichment	CTNNA2	0.96
1112	Megabladder, congenital	Enrichment	MYOCD	0.96
1113	Pulmonary hypertension, primary, 6	Enrichment	CAPNS1	0.96
1114	46,xx sex reversal 5	Enrichment	NR2F2	0.96
1115	Heterotaxy, visceral, 5, autosomal	Enrichment	NODAL	0.96
1116	Bone marrow failure syndrome 5	Enrichment	TP53	0.96
1117	46,xx sex reversal 2	Enrichment	SOX9	0.96
1118	Combined osteogenesis imperfecta and ehlers-danlos syndrome 2	Enrichment	COL1A2	0.96
1119	Orofacial cleft 10	Enrichment	SUMO1	0.96
1120	Renal cell carcinoma, xp11-associated	Enrichment	TFE3	0.96
1121	Developmental and epileptic encephalopathy 54	Enrichment	HNRNPU	0.96
1122	Intellectual developmental disorder, x-linked, syndromic, with pigmentary mosaicism and coarse facies	Enrichment	TFE3	0.96
1123	Lymphedema, primary, with myelodysplasia	Enrichment	GATA2	0.96
1124	Erythrokeratodermia variabilis et progressiva 5	Enrichment	KRT83	0.96
1125	Papilloma of choroid plexus	Enrichment	TP53	0.96
1126	Microphthalmia, syndromic 6	Enrichment	BMP4	0.96
1127	Perlman syndrome	Enrichment	DIS3L2	0.96
1128	Body mass index quantitative trait locus 20	Enrichment	MC4R	0.96
1129	Basal cell carcinoma 7	Enrichment	TP53	0.96
1130	Deafness, autosomal dominant 37	Enrichment	COL11A1	0.96
1131	Imagawa-matsumoto syndrome	Enrichment	SUZ12	0.96
1132	Autism 19	Enrichment	EIF4E	0.96
1133	Hypospadias 2, x-linked	Enrichment	MAMLD1	0.96
1134	Agenesis of corpus callosum, cardiac, ocular, and genital syndrome	Enrichment	CDH2	0.96
1135	Anaplastic thyroid carcinoma	Enrichment	TP53	0.96
1136	Ifap syndrome 2	Enrichment	SREBF1	0.96
1137	Left ventricular noncompaction 8	Enrichment	PRDM16	0.96
1138	Orofacial cleft 11	Enrichment	BMP4	0.96
1139	T-cell large granular lymphocyte leukemia	Enrichment	STAT3	0.96
1140	Infant-type hemispheric glioma	Enrichment	BRCA1	0.96
1141	Palmoplantar keratoderma, nonepidermolytic, focal or diffuse	Enrichment	KRT6C	0.96
1142	Plasminogen activator inhibitor-1 deficiency	Enrichment	SERPINE1	0.96
1143	Hypoplastic right heart syndrome	Enrichment	TBX20	0.96
1144	Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language	Enrichment	MEF2C	0.96
1145	Charcot-marie-tooth disease, recessive intermediate b	Enrichment	KARS1	0.96
1146	Netherton syndrome	Enrichment	SPINK5	0.96
1147	Dicer1 syndrome	Enrichment	DICER1	0.96
1148	Deafness, autosomal dominant 23	Enrichment	SIX1	0.96
1149	Radioulnar synostosis with amegakaryocytic thrombocytopenia 1	Enrichment	HOXA11	0.96
1150	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness	Enrichment	MITF	0.96
1151	Lacrimoauriculodentodigital syndrome 3	Enrichment	FGF10	0.96
1152	Microphthalmia, syndromic 5	Enrichment	OTX2	0.96
1153	Keratosis palmoplantaris striata iii	Enrichment	KRT1	0.96
1154	Bone mineral density quantitative trait locus 16	Enrichment	WNT1	0.96
1155	Athabaskan brainstem dysgenesis syndrome	Enrichment	HOXA1	0.96
1156	Deafness, autosomal dominant 13	Enrichment	COL11A2	0.96
1157	Hyperinsulinemic hypoglycemia, familial, 3	Enrichment	GCK	0.96
1158	White sponge nevus 2	Enrichment	KRT13	0.96
1159	Radioulnar synostosis with amegakaryocytic thrombocytopenia 2	Enrichment	MECOM	0.96
1160	Agammaglobulinemia 8a, autosomal dominant	Enrichment	TCF3	0.96
1161	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	Enrichment	AKT3	0.96
1162	Deafness, autosomal dominant 70	Enrichment	MCM2	0.96
1163	Skin/hair/eye pigmentation, variation in, 7	Enrichment	KITLG	0.96
1164	Heterotaxy, visceral, 2, autosomal	Enrichment	CFC1	0.96
1165	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy	Enrichment	IARS1	0.96
1166	Leukodystrophy, hypomyelinating, 9	Enrichment	RARS1	0.96
1167	Meier-gorlin syndrome 8	Enrichment	MCM5	0.96
1168	Pleuropulmonary blastoma	Enrichment	DICER1	0.96
1169	Question mark ears, isolated	Enrichment	EDN1	0.96
1170	Acrocapitofemoral dysplasia	Enrichment	IHH	0.96
1171	Coronary artery disease, autosomal dominant, 1	Enrichment	MEF2A	0.96
1172	Intellectual developmental disorder, autosomal recessive 65	Enrichment	KDM5B	0.96
1173	Ophthalmoplegia, external, with rib and vertebral anomalies	Enrichment	MYF5	0.96
1174	Hypotrichosis and recurrent skin vesicles	Enrichment	DSC3	0.96
1175	Global developmental delay, lung cysts, overgrowth, and wilms tumor	Enrichment	DICER1	0.96
1176	Platelet glycoprotein iv deficiency	Enrichment	CD36	0.96
1177	Congenital myopathy 19	Enrichment	PAX7	0.96
1178	Rhabdoid tumor predisposition syndrome 1	Enrichment	SMARCB1	0.96
1179	Meacham syndrome	Enrichment	WT1	0.96
1180	Atrial septal defect 4	Enrichment	TBX20	0.96
1181	Atrial septal defect 2	Enrichment	GATA4	0.96
1182	Hypotrichosis 3	Enrichment	KRT74	0.96
1183	Arrhythmogenic right ventricular dysplasia, familial, 14	Enrichment	CDH2	0.96
1184	Erythrocytosis, familial, 4	Enrichment	EPAS1	0.96
1185	Multiple synostoses syndrome 3	Enrichment	FGF9	0.96
1186	Ventricular septal defect 3	Enrichment	NKX2-5	0.96
1187	Holoprosencephaly 11	Enrichment	CDON	0.96
1188	Intellectual developmental disorder, autosomal dominant 10	Enrichment	CACNG2	0.96
1189	Interleukin 6, serum level of, quantitative trait locus	Enrichment	IL6R	0.96
1190	Cortical malformations, occipital	Enrichment	LAMC3	0.96
1191	Pancreatic lipase deficiency	Enrichment	PNLIP	0.96
1192	Immunodeficiency 21	Enrichment	GATA2	0.96
1193	Plasma triglyceride level quantitative trait locus	Enrichment	ANGPTL4	0.96
1194	Soluble interleukin-6 receptor, serum level of, quantitative trait locus	Enrichment	IL6R	0.96
1195	Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures	Enrichment	EIF4A2	0.96
1196	Nephronophthisis 14	Enrichment	ZNF423	0.96
1197	Craniosynostosis 3	Enrichment	TCF12	0.96
1198	Zimmermann-laband syndrome 2	Enrichment	ATP6V1B2	0.96
1199	Ichthyosis, congenital, autosomal recessive 8	Enrichment	LIPN	0.96
1200	Microcephaly 10, primary, autosomal recessive	Enrichment	ZNF335	0.96
1201	Pituitary hormone deficiency, combined, 6	Enrichment	OTX2	0.96
1202	Cowden syndrome 6	Enrichment	AKT1	0.96
1203	Immunodeficiency 46	Enrichment	TFRC	0.96
1204	Otofacial neurodevelopmental syndrome	Enrichment	ZSCAN10	0.96
1205	Hyper-ige syndrome 5, autosomal recessive, with recurrent infections	Enrichment	IL6R	0.96
1206	Monilethrix 3	Enrichment	KRT83	0.96
1207	Congenital myopathy 17	Enrichment	MYOD1	0.96
1208	Microphthalmia, syndromic 12	Enrichment	RARB	0.96
1209	Pachyonychia congenita 4	Enrichment	KRT6B	0.96
1210	Testicular anomalies with or without congenital heart disease	Enrichment	GATA4	0.96
1211	Fibrochondrogenesis 2	Enrichment	COL11A2	0.96
1212	Olmsted syndrome 2	Enrichment	PERP	0.96
1213	Premature ovarian failure 7	Enrichment	NR5A1	0.96
1214	Hypotrichosis 13	Enrichment	KRT71	0.96
1215	Melanoma, cutaneous malignant 5	Enrichment	MC1R	0.96
1216	Neurilemmoma	Enrichment	SMARCB1	0.96
1217	Lynch syndrome 8	Enrichment	EPCAM	0.96
1218	Loeys-dietz syndrome 6	Enrichment	SMAD2	0.96
1219	Retinitis pigmentosa 41	Enrichment	PROM1	0.96
1220	Immunodeficiency 96	Enrichment	LIG1	0.96
1221	Type 1 diabetes mellitus 20	Enrichment	HNF1A	0.96
1222	Hypogonadotropic hypogonadism 6 with or without anosmia	Enrichment	FGF8	0.96
1223	Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome	Enrichment	KMT2D	0.96
1224	Corneal dystrophy, fuchs endothelial, 3	Enrichment	TCF4	0.96
1225	Basel-vanagaite-smirin-yosef syndrome	Enrichment	MED25	0.96
1226	Ductal carcinoma in situ	Enrichment	TP53	0.96
1227	Hypoplastic left heart syndrome 2	Enrichment	NKX2-5	0.96
1228	Atrial septal defect 9	Enrichment	GATA6	0.96
1229	Blood group, junior system	Enrichment	ABCG2	0.96
1230	Coffin-siris syndrome 3	Enrichment	SMARCB1	0.96
1231	Tet3-related beck-fahrner syndrome	Enrichment	TET3	0.96
1232	Developmental and epileptic encephalopathy 56	Enrichment	YWHAG	0.96
1233	Ectodermal dysplasia 7, hair/nail type	Enrichment	KRT74	0.96
1234	Kleefstra syndrome 2	Enrichment	KMT2C	0.96
1235	Developmental and epileptic encephalopathy 61	Enrichment	ADAM22	0.96
1236	Hypomyelination with brainstem and spinal cord involvement and leg spasticity	Enrichment	DARS1	0.96
1237	Structural brain anomalies with impaired intellectual development and craniosynostosis	Enrichment	ZIC1	0.96
1238	Arid1b-related disorder	Enrichment	ARID1B	0.96
1239	Patent ductus arteriosus 2	Enrichment	TFAP2B	0.96
1240	Ctcf-related disorder	Enrichment	CTCF	0.96
1241	Epilepsy, familial adult myoclonic, 6	Enrichment	TNRC6A	0.96
1242	Autoimmune disease, multisystem, infantile-onset, 1	Enrichment	STAT3	0.96
1243	Visual impairment and progressive phthisis bulbi	Enrichment	MARK3	0.96
1244	Charcot-marie-tooth disease, axonal, type 2u	Enrichment	MARS1	0.96
1245	Cohen-gibson syndrome	Enrichment	EED	0.96
1246	Seizures, cortical blindness, and microcephaly syndrome	Enrichment	DIAPH1	0.96
1247	8p23.1 microdeletion syndrome	Enrichment	GATA4	0.96
1248	Bryant-li-bhoj neurodevelopmental syndrome 1	Enrichment	H3-3A	0.96
1249	Duane retraction syndrome 3 with or without deafness	Enrichment	MAFB	0.96
1250	Vissers-bodmer syndrome	Enrichment	CNOT1	0.96
1251	Cutis laxa, autosomal recessive, type iic	Enrichment	ATP6V1E1	0.96
1252	Deafness-lymphedema-leukemia syndrome	Enrichment	GATA2	0.96
1253	Diaph1-related sensorineural hearing loss-thrombocytopenia syndrome	Enrichment	DIAPH1	0.96
1254	Blepharophimosis-impaired intellectual development syndrome	Enrichment	SMARCA2	0.96
1255	Leukodystrophy, hypomyelinating, 15	Enrichment	EPRS1	0.96
1256	Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities	Enrichment	MED11	0.96
1257	Deafness, congenital heart defects, and posterior embryotoxon	Enrichment	JAG1	0.96
1258	Coffin-siris syndrome 7	Enrichment	DPF2	0.96
1259	Snijders blok-fisher syndrome	Enrichment	POU3F3	0.96
1260	Trichothiodystrophy 9, nonphotosensitive	Enrichment	MARS1	0.96
1261	Menke-hennekam syndrome 1	Enrichment	CREBBP	0.96
1262	Beck-fahrner syndrome	Enrichment	TET3	0.96
1263	Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies	Enrichment	CNOT2	0.96
1264	Turnpenny-fry syndrome	Enrichment	PCGF2	0.96
1265	Oocyte/zygote/embryo maturation arrest 8	Enrichment	BTG4	0.96
1266	Guillouet-gordon syndrome	Enrichment	MED16	0.96
1267	Malignant sertoli-leydig cell tumor of ovary	Enrichment	DICER1	0.96
1268	Neuropathy with hearing impairment	Enrichment	GJB3	0.96
1269	Erythrokeratodermia variabilis et progressiva 7	Enrichment	PERP	0.96
1270	Chronic mast cell leukemia	Enrichment	KIT	0.96
1271	Griscelli syndrome	Enrichment	RAB27A	0.96
1272	Obesity due to melanocortin 4 receptor deficiency	Enrichment	MC4R	0.96
1273	Autosomal recessive dyskeratosis congenita 4	Enrichment	TERT	0.96
1274	Leukoencephalopathy, progressive, infantile-onset, with or without deafness	Enrichment	KARS1	0.96
1275	Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects	Enrichment	LGI3	0.96
1276	Blistering, acantholytic, of oral and laryngeal mucosa	Enrichment	DSG3	0.96
1277	Bent bone dysplasia syndrome 2	Enrichment	LAMA5	0.96
1278	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	Enrichment	GATAD2B	0.96
1279	Thyroid gland undifferentiated carcinoma	Enrichment	TP53	0.96
1280	Asphyxia neonatorum	Enrichment	COL1A1	0.96
1281	Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization	Enrichment	MME	0.96
1282	Microcephalic primordial dwarfism due to znf335 deficiency	Enrichment	ZNF335	0.96
1283	Deafness, autosomal dominant 69	Enrichment	KITLG	0.96
1284	Congenital heart defects, multiple types, 8, with or without heterotaxy	Enrichment	SMAD2	0.96
1285	Small-cell carcinoma of the ovary of hypercalcemic type	Enrichment	TP53	0.96
1286	Attention deficit-hyperactivity disorder 8	Enrichment	CDH2	0.96
1287	Hereditary hypotrichosis with recurrent skin vesicles	Enrichment	DSC3	0.96
1288	Generalized epilepsy with febrile seizures plus, type 9	Enrichment	STX1B	0.96
1289	Adenoid ameloblastoma	Enrichment	CTNNB1	0.96
1290	Asah1-related disorders	Enrichment	ASAH1	0.96
1291	Cdkn2a cancer predisposition	Enrichment	CDKN2A	0.96
1292	Pparg-associated congenital generalized lipodystrophy	Enrichment	PPARG	0.96
1293	Heritable thoracic aortic disease	Enrichment	SMAD4	0.96
1294	Occipital pachygyria and polymicrogyria	Enrichment	LAMC3	0.96
1295	Short-rib thoracic dysplasia 22 without polydactyly	Enrichment	FGF4	0.96
1296	45,x/46,xy mixed gonadal dysgenesis	Enrichment	SRY	0.96
1297	Acute myeloid leukemia with mll rearrangement	Enrichment	KMT2A	0.96
1298	Rubinstein-taybi syndrome due to 16p13.3 microdeletion	Enrichment	CREBBP	0.96
1299	Congenital hereditary facial paralysis-variable hearing loss syndrome	Enrichment	HOXB1	0.96
1300	Capillary hemangioma	Enrichment	AKT3	0.96
1301	Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype	Enrichment	TP53	0.96
1302	Pulmonary hypertension, primary, 7	Enrichment	SOX17	0.96
1303	Non-acquired combined pituitary hormone deficiency	Enrichment	FOXA2	0.96
1304	Charcot-marie-tooth disease type 2t	Enrichment	MME	0.96
1305	Palmoplantar keratoderma, epidermolytic, 2	Enrichment	KRT1	0.96
1306	Pancreatic triacylglycerol lipase deficiency	Enrichment	PNLIP	0.96
1307	Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome	Enrichment	TBXT	0.96
1308	Mme-related autosomal dominant charcot marie tooth disease type 2	Enrichment	MME	0.96
1309	Gestational diabetes	Enrichment	GCK	0.96
1310	Multiple paragangliomas associated with polycythemia	Enrichment	EPAS1	0.96
1311	Epilepsy, early-onset, 3, with or without developmental delay	Enrichment	ATP6V0C	0.96
1312	Chromosome 15q24 deletion syndrome	Enrichment	SIN3A	0.96
1313	Oculovertebral syndrome	Enrichment	NR6A1	0.96
1314	Developmental dysplasia of the hip 4	Enrichment	TRIM33	0.96
1315	Stat3-related early-onset multisystem autoimmune disease	Enrichment	STAT3	0.96
1316	Hyperinsulinism due to hnf4a deficiency	Enrichment	HNF4A	0.96
1317	5q14.3 microdeletion syndrome	Enrichment	MEF2C	0.96
1318	Agammaglobulinemia	Enrichment	SPI1	0.96
1319	Ichthyosis linearis circumflexa	Enrichment	SPINK5	0.96
1320	Aortic arch interruption	Enrichment	NKX2-5	0.96
1321	Facial cleft	Enrichment	SMARCE1	0.96
1322	Isolated bone marrow mastocytosis	Enrichment	KIT	0.96
1323	Aquagenic palmoplantar keratoderma	Enrichment	CFTR	0.96
1324	Isolated delta-storage pool disease	Enrichment	FLI1	0.96
1325	Smoldering systemic mastocytosis	Enrichment	KIT	0.96
1326	Choroid plexus cancer	Enrichment	TP53	0.96
1327	Cebpe-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome	Enrichment	CEBPE	0.96
1328	Heterotaxy, visceral, 13, autosomal	Enrichment	DAND5	0.96
1329	Focal palmoplantar keratoderma	Enrichment	KRT6C	0.96
1330	Supratentorial primitive neuroectodermal tumor	Enrichment	DICER1	0.96
1331	Minimal pigment oculocutaneous albinism type 1	Enrichment	TYR	0.96
1332	Congenitally uncorrected transposition of the great arteries with coarctation	Enrichment	CFC1	0.96
1333	Duane retraction syndrome 3	Enrichment	MAFB	0.96
1334	Complete atrioventricular septal defect without ventricular hypoplasia	Enrichment	MEF2C	0.96
1335	Autosomal recessive severe congenital neutropenia	Enrichment	SMARCD2	0.96
1336	Chronic neutrophilic leukemia	Enrichment	CSF3R	0.96
1337	Gynandroblastoma	Enrichment	DICER1	0.96
1338	Split hand-foot malformation 1 with sensorineural hearing loss	Enrichment	DLX5	0.96
1339	Dicer1 tumor predisposition	Enrichment	DICER1	0.96
1340	Acute myeloid leukemia with mutated cebpa	Enrichment	CEBPA	0.96
1341	Atrial heart septal defect 7	Enrichment	NKX2-5	0.96
1342	Mastocytosis	Enrichment	KIT	0.96
1343	Partial atrioventricular septal defect with ventricular hypoplasia	Enrichment	GATA4	0.96
1344	Duane retraction syndrome with congenital deafness	Enrichment	MAFB	0.96
1345	Menke-hennekam syndrome	Enrichment	CREBBP	0.96
1346	Autosomal dominant deafness - onychodystrophy syndrome	Enrichment	ATP6V1B2	0.96
1347	Female infertility due to an implantation defect of genetic origin	Enrichment	ZFP36L2	0.96
1348	Pulmonary alveolar proteinosis	Enrichment	MARS1	0.96
1349	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome	Enrichment	COL11A1	0.96
1350	Familial progressive hyperpigmentation	Enrichment	KITLG	0.96
1351	Autosomal recessive epidermolytic ichthyosis	Enrichment	KRT10	0.96
1352	Cystic lymphangioma	Enrichment	COL11A2	0.96
1353	Pleomorphic xanthoastrocytoma	Enrichment	TP53	0.96
1354	Bosley-salih-alorainy syndrome	Enrichment	HOXA1	0.96
1355	Hypogonadotropic hypogonadism 26 with or without anosmia	Enrichment	TCF12	0.96
1356	Whipple disease	Enrichment	IRF4	0.96
1357	Congenital plasminogen activator inhibitor type 1 deficiency	Enrichment	SERPINE1	0.96
1358	Cutaneous mastocytoma	Enrichment	KIT	0.96
1359	Pancreatic agenesis-holoprosencephaly syndrome	Enrichment	CNOT1	0.96
1360	Pax2-related disorder	Enrichment	PAX2	0.96
1361	Sall4-related disorders	Enrichment	SALL4	0.96
1362	Typical urticaria pigmentosa	Enrichment	KIT	0.96
1363	Autosomal dominant epilepsy with auditory features	Enrichment	LGI1	0.96
1364	Medullary sponge kidney	Enrichment	HNF1B	0.96
1365	Biliary atresia with splenic malformation syndrome	Enrichment	CFC1	0.96
1366	Mef2c-related disorder	Enrichment	MEF2C	0.96
1367	1q44 microdeletion syndrome	Enrichment	HNRNPU	0.96
1368	Autosomal dominant nonsyndromic hearing loss 23	Enrichment	SIX1	0.96
1369	Nodular urticaria pigmentosa	Enrichment	KIT	0.96
1370	Renal dysplasia, bilateral	Enrichment	HNF1B	0.96
1371	Premature aging	Enrichment	VIM	0.96
1372	Unilateral multicystic dysplastic kidney	Enrichment	HNF1B	0.96
1373	Pseudoxanthomatous diffuse cutaneous mastocytosis	Enrichment	KIT	0.96
1374	Lama5-related multisystemic syndrome	Enrichment	LAMA5	0.96
1375	Renal dysplasia, unilateral	Enrichment	HNF1B	0.96
1376	Telangiectasia macularis eruptiva perstans	Enrichment	KIT	0.96
1377	Acute mast cell leukemia	Enrichment	KIT	0.96
1378	Chronic lymphoproliferative disorder of natural killer cells	Enrichment	STAT3	0.96
1379	Six2-related frontonasal dysplasia	Enrichment	SIX2	0.96
1380	Dislocation of the hip-dysmorphism syndrome	Enrichment	TRIM33	0.96
1381	Egf-related primary hypomagnesemia with intellectual disability	Enrichment	EGF	0.96
1382	Distal 17p13.3 microdeletion syndrome	Enrichment	YWHAE	0.96
1383	Familial progressive hyper- and hypopigmentation	Enrichment	KITLG	0.96
1384	Autosomal dominant spondylocostal dysostosis	Enrichment	TBX6	0.96
1385	Plaque-form urticaria pigmentosa	Enrichment	KIT	0.96
1386	Interstitial lung disease specific to childhood	Enrichment	FGF10	0.96
1387	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome	Enrichment	EOMES	0.96
1388	Congenitally uncorrected transposition of the great arteries with cardiac malformation	Enrichment	CFC1	0.96
1389	Bullous diffuse cutaneous mastocytosis	Enrichment	KIT	0.96
1390	Microcystic stromal tumor	Enrichment	CTNNB1	0.96
1391	Primary peritoneal carcinoma	Enrichment	BRCA1	0.96
1392	Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome	Enrichment	QARS1	0.96
1393	Hypopigmentation of the skin	Enrichment	TYR	0.96
1394	Akt2-related familial partial lipodystrophy	Enrichment	AKT2	0.96
1395	Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome	Enrichment	SHH	0.96
1396	Testis seminoma	Enrichment	KIT	0.96
1397	46,xy ovotesticular disorder of sex development	Enrichment	MAMLD1	0.96
1398	Acral self-healing collodion baby	Enrichment	TGM1	0.96
1399	Atresia of urethra	Enrichment	FOXF1	0.96
1400	Aplastic anemia	Enrichment	RPL5	0.95
1401	Mccune-albright syndrome	Enrichment	COL2A1	0.94
1402	Dystonia 12	Enrichment	SCN2A	0.94
1403	Prognathism, mandibular	Enrichment	CSNK2B	0.94
1404	Retinal arteries, tortuosity of	Enrichment	COL4A1	0.94
1405	Hypogonadotropic hypogonadism 2 with or without anosmia	Enrichment	FGFR1	0.94
1406	Thyroid carcinoma, familial medullary	Enrichment	RET	0.94
1407	Pompe disease, infantile-onset	Enrichment	PIK3CA	0.94
1408	Band heterotopia	Enrichment	DCX	0.94
1409	Myopathy, centronuclear, x-linked	Enrichment	DNM2	0.94
1410	Multicentric osteolysis, nodulosis, and arthropathy	Enrichment	MMP2	0.94
1411	Leukodystrophy, hypomyelinating, 6	Enrichment	TUBB4A	0.94
1412	Generalized epilepsy with febrile seizures plus, type 2	Enrichment	SCN1A	0.94
1413	Brain small vessel disease 2	Enrichment	COL4A2	0.94
1414	Chromosome 8p11 myeloproliferative syndrome	Enrichment	FGFR1	0.94
1415	Developmental and epileptic encephalopathy 13	Enrichment	SCN8A	0.94
1416	Epilepsy, familial temporal lobe, 7	Enrichment	RELN	0.94
1417	Neonatal nephrocutaneous inflammatory syndrome	Enrichment	EGFR	0.94
1418	Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy	Enrichment	SPTBN1	0.94
1419	Generalized epilepsy with febrile seizures plus, type 7	Enrichment	SCN9A	0.94
1420	Oocyte/zygote/embryo maturation arrest 2	Enrichment	TUBB8	0.94
1421	Short-rib thoracic dysplasia 11 with or without polydactyly	Enrichment	SPTAN1	0.94
1422	Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	Enrichment	COL4A1	0.94
1423	Tremor, hereditary essential, 6	Enrichment	SCN4A	0.94
1424	Cortical dysplasia, complex, with other brain malformations 5	Enrichment	TUBB2A	0.94
1425	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	Enrichment	CACNA1C	0.94
1426	Intellectual developmental disorder, autosomal dominant 56	Enrichment	CLTC	0.94
1427	Pilarowski-bjornsson syndrome	Enrichment	COL4A3	0.94
1428	Developmental and epileptic encephalopathy 31b	Enrichment	DNM1	0.94
1429	Alport syndrome 3b, autosomal recessive	Enrichment	COL4A3	0.94
1430	Intellectual developmental disorder, autosomal dominant 62	Enrichment	DLG4	0.94
1431	Wieacker-wolff syndrome	Enrichment	RASA1	0.94
1432	Poretti-boltshauser syndrome	Enrichment	LAMA1	0.94
1433	Hypogonadotropic hypogonadism 5 with or without anosmia	Enrichment	SEMA3E	0.94
1434	Intellectual developmental disorder, autosomal dominant 44, with microcephaly	Enrichment	TRIO	0.94
1435	Neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures	Enrichment	DLG4	0.94
1436	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	Enrichment	COL4A1	0.94
1437	Lymphatic malformation 7	Enrichment	EPHB4	0.94
1438	Gingival overgrowth	Enrichment	RET	0.94
1439	Capillary malformation-arteriovenous malformation 2	Enrichment	EPHB4	0.94
1440	Kyphosis	Enrichment	RELN	0.94
1441	Hematuria, benign familial, 2	Enrichment	COL4A3	0.94
1442	Dlg4-related synaptopathy	Enrichment	DLG4	0.94
1443	Spermatocytoma	Enrichment	HRAS	0.94
1444	Bleeding disorder, platelet-type, 24	Enrichment	ITGB3	0.94
1445	Neonatal inflammatory skin and bowel disease	Enrichment	EGFR	0.94
1446	Melanoma of soft tissue	Enrichment	CREB1	0.94
1447	Thyrotoxic periodic paralysis	Enrichment	CACNA1S	0.94
1448	Multiple epiphyseal dysplasia	Enrichment	COL2A1	0.94
1449	Hereditary episodic ataxia	Enrichment	SCN2A	0.94
1450	Gaucher disease, type ii	Enrichment	PRX	0.93
1451	Muscular dystrophy, duchenne type	Enrichment	UTRN	0.93
1452	Muscular dystrophy, congenital merosin-deficient, 1a	Enrichment	LAMA2	0.93
1453	Gaucher's disease	Enrichment	PRX	0.93
1454	Lama2-related muscular dystrophy	Enrichment	LAMA2	0.93
1455	Atrial septal defect 1	Enrichment	FOXP1, TBX5	0.88
1456	Dyskeratosis congenita, autosomal dominant 1	Enrichment	MECOM, TERT	0.88
1457	Li-fraumeni syndrome	Enrichment	CDKN2A, TP53	0.88
1458	Osteogenesis imperfecta, type i	Enrichment	COL1A1, COL1A2	0.88
1459	Rubinstein-taybi syndrome 1	Enrichment	CREBBP, EP300	0.88
1460	Split-hand/foot malformation 1	Enrichment	DLX5, LEF1	0.88
1461	Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome	Enrichment	PAX6, WT1	0.88
1462	Pierre robin syndrome	Enrichment	MED13L, SOX9	0.88
1463	Moyamoya disease 1	Enrichment	ACTA2, DIAPH1	0.88
1464	Type 1 diabetes mellitus	Enrichment	HNF1A, INS	0.88
1465	Epidermolysis bullosa, junctional 5b, with pyloric atresia	Enrichment	ITGA6, ITGB4	0.88
1466	Testicular germ cell tumor	Enrichment	KIT, KITLG	0.88
1467	Wilms tumor 5	Enrichment	DIS3L2, WT1	0.88
1468	Wiedemann-steiner syndrome	Enrichment	ARID1B, KMT2A	0.88
1469	Chromosome 16p13.3 deletion syndrome, proximal	Enrichment	CREBBP, EP300	0.88
1470	Inguinal hernia	Enrichment	ACTL6A, COL5A1	0.88
1471	Intestinal pseudo-obstruction	Enrichment	MYH11, TFAP2B	0.88
1472	Renal hypoplasia	Enrichment	PAX2, WNT9B	0.88
1473	Hypertrichosis	Enrichment	ARID1B, CREBBP	0.88
1474	Sporadic pheochromocytoma/secreting paraganglioma	Enrichment	EPAS1, RET	0.88
1475	Digeorge syndrome	Enrichment	HIRA, HNF1A, TBX1	0.88
1476	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Enrichment	DSC2, JUP, PKP2	0.88
1477	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Enrichment	DSC2, JUP, PKP2	0.88
1478	Creatine phosphokinase, elevated serum	Enrichment	DAG1, LAMA2	0.86
1479	Isolated elevated serum creatine phosphokinase levels	Enrichment	DAG1, LAMA2	0.86
1480	Pulmonary hypertension, primary, 1	Enrichment	RPL5	0.85
1481	Alzheimer disease, familial, 1	Enrichment	PSEN1, UNC5C	0.85
1482	Sudden infant death syndrome	Enrichment	SCN1A, SCN5A	0.85
1483	Peripheral nervous system disease	Enrichment	MPZ, PMP22, PRX	0.84
1484	Neuropathy	Enrichment	MPZ, PMP22, PRX	0.84
1485	Intellectual developmental disorder, autosomal dominant 1	Enrichment	ITSN1	0.83
1486	Acyl-coa dehydrogenase, very long-chain, deficiency of	Enrichment	DLG4	0.83
1487	Fucosidosis	Enrichment	DCX	0.83
1488	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1	Enrichment	MYH11	0.83
1489	Neuropathy, hereditary sensory and autonomic, type iia	Enrichment	SCN9A	0.83
1490	Astigmatism	Enrichment	GRIN2B	0.83
1491	Neurofibromatosis-noonan syndrome	Enrichment	MAP2K2	0.83
1492	Frontotemporal dementia 2	Enrichment	PRNP	0.83
1493	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	MAPK1	0.83
1494	Long qt syndrome 2	Enrichment	SCN5A	0.83
1495	Hyperkalemic periodic paralysis	Enrichment	SCN4A	0.83
1496	Barrett esophagus	Enrichment	ERBB2	0.83
1497	Developmental and epileptic encephalopathy 12	Enrichment	SCN2A	0.83
1498	Central hypoventilation syndrome, congenital, 1	Enrichment	RET	0.83
1499	Hereditary sensory and autonomic neuropathy type 2	Enrichment	SCN9A	0.83
1500	Developmental and epileptic encephalopathy 52	Enrichment	SCN1B	0.83
1501	Enophthalmos	Enrichment	CSNK2B	0.83
1502	Syndactyly	Enrichment	CSNK2B	0.83
1503	Atrial fibrillation	Enrichment	SCN5A	0.83
1504	Cerebrovascular disease	Enrichment	PIK3CA	0.83
1505	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1	Enrichment	CLTC	0.83
1506	Sotos syndrome 1	Enrichment	SCN4A	0.83
1507	Noonan syndrome with multiple lentigines	Enrichment	PTPN11	0.83
1508	Pilocytic astrocytoma	Enrichment	KRAS	0.83
1509	Malignant hyperthermia	Enrichment	CACNA1S	0.83
1510	Familial cerebral cavernous malformations	Enrichment	PIK3CA	0.83
1511	Charcot-marie-tooth hereditary neuropathy	Enrichment	SPTAN1	0.83
1512	Familial or sporadic hemiplegic migraine	Enrichment	SCN1A	0.83
1513	Sick sinus syndrome	Enrichment	SCN5A	0.83
1514	Digenic hemochromatosis	Enrichment	HJV	0.83
1515	Haddad syndrome	Enrichment	RET	0.83
1516	Paroxysmal familial ventricular fibrillation	Enrichment	SCN5A	0.83
1517	Familial sick sinus syndrome	Enrichment	SCN5A	0.83
1518	Isolated macular dystrophy	Enrichment	COL4A5	0.82
1519	Aortic valve disease 1	Enrichment	NKX2-5, NOTCH1, SOS1	0.80
1520	Diaphragmatic hernia, congenital	Enrichment	CDK8, GATA6, ZFPM2	0.80
1521	Osteogenesis imperfecta, type iv	Enrichment	COL1A1, COL1A2, WNT1	0.80
1522	Atypical hemolytic-uremic syndrome	Enrichment	COL4A5	0.79
1523	Craniosynostosis	Enrichment	CTNNA1, GRIN2B, TCF12, TFAP2B	0.78
1524	Non-syndromic x-linked intellectual disability	Enrichment	DLG3, RPS6KA3, UPF3B	0.78
1525	Non-syndromic genetic deafness	Enrichment	ACTG1, MYH14, RDX	0.78
1526	Arteriovenous malformations of the brain	Enrichment	EGFR, KRAS	0.77
1527	Congenital myopathy	Enrichment	CACNA1S, SCN4A	0.77
1528	Osteogenesis imperfecta, type ii	Enrichment	COL1A1, COL1A2	0.77
1529	Hypothyroidism, congenital, nongoitrous, 2	Enrichment	NKX2-5, PAX8	0.77
1530	Squamous cell carcinoma, head and neck	Enrichment	EGFR, TP53	0.77
1531	Dyskeratosis congenita, autosomal dominant 2	Enrichment	MECOM, TERT	0.77
1532	Adams-oliver syndrome	Enrichment	NOTCH1, RBPJ	0.77
1533	Oculocutaneous albinism	Enrichment	TYR, TYRP1	0.77
1534	Hereditary hemorrhagic telangiectasia	Enrichment	RASA1, SMAD4	0.77
1535	Megacolon	Enrichment	AKT3, ZEB2	0.77
1536	Cataract 6, multiple types	Enrichment	EPHA2	0.74
1537	Hemifacial hyperplasia	Enrichment	EFNB1	0.74
1538	Moebius syndrome	Enrichment	PLXND1	0.74
1539	Sotos syndrome	Enrichment	SCN4A	0.74
1540	Visceral myopathy 1	Enrichment	MYH11	0.74
1541	Multiple endocrine neoplasia, type iia	Enrichment	RET	0.74
1542	Martsolf syndrome 1	Enrichment	ARHGAP35	0.74
1543	Spherocytosis, type 1	Enrichment	ANK1	0.74
1544	Convulsions, familial infantile, with paroxysmal choreoathetosis	Enrichment	SCN8A	0.74
1545	Deafness, autosomal recessive 63	Enrichment	MYH9	0.74
1546	Myasthenic syndrome, congenital, 8	Enrichment	AGRN	0.74
1547	Lissencephaly 2	Enrichment	RELN	0.74
1548	Developmental and epileptic encephalopathy 31a	Enrichment	DNM1	0.74
1549	Glanzmann thrombasthenia 2	Enrichment	ITGB3	0.74
1550	Pervasive developmental disorder	Enrichment	SPTBN1	0.74
1551	Congenital ptosis	Enrichment	MYH10	0.74
1552	Cardiac arrest	Enrichment	SCN5A	0.74
1553	Female infertility due to oocyte meiotic arrest	Enrichment	TUBB8	0.74
1554	Dementia	Enrichment	PSEN1	0.74
1555	Primary hypereosinophilic syndrome	Enrichment	FGFR1	0.74
1556	Sleep disorder	Enrichment	GRIN2B	0.74
1557	Rare pervasive developmental disorder	Enrichment	SPTBN1	0.74
1558	Familial cerebral saccular aneurysm	Enrichment	COL3A1	0.74
1559	Cardiomyopathy, dilated, 1a	Enrichment	DSC2, HAND2, LPL, SEMA3E	0.73
1560	Hepatoblastoma	Enrichment	CTNNB1, JAG1, TERT, TP53	0.73
1561	Multiple sclerosis	Enrichment	ITGB4, LAMA5, LAMB1	0.73
1562	Cleft lip/palate	Enrichment	BMP4, DLG1, MSX1	0.73
1563	Neuronopathy, distal hereditary motor, autosomal dominant 2	Enrichment	MPZ	0.72
1564	Genetic motor neuron disease	Enrichment	MPZ	0.72
1565	Hereditary breast carcinoma	Enrichment	AKT1, BRCA1, EPCAM, KRAS, PIK3CA, RET, TP53	0.71
1566	Centronuclear myopathy	Enrichment	CACNA1S, DNM2	0.70
1567	Prostate cancer	Enrichment	BRCA1, EPHB2, HNF1B, PIK3CA, TP53	0.70
1568	Epiphyseal dysplasia, multiple, 1	Enrichment	COL1A1	0.69
1569	Keratitis, hereditary	Enrichment	PAX6	0.69
1570	Hypotrichosis 2	Enrichment	CDSN	0.69
1571	Tubulointerstitial kidney disease, autosomal dominant 1	Enrichment	HNF1B	0.69
1572	Amelogenesis imperfecta, type ia	Enrichment	LAMB3	0.69
1573	Ectrodactyly and ectodermal dysplasia without cleft lip/palate	Enrichment	LEF1	0.69
1574	Papillorenal syndrome	Enrichment	PAX2	0.69
1575	Melanoma-astrocytoma syndrome	Enrichment	CDKN2A	0.69
1576	Burkitt lymphoma	Enrichment	MYC	0.69
1577	Renal cysts and diabetes syndrome	Enrichment	HNF1B	0.69
1578	Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome	Enrichment	GATA3	0.69
1579	Foveal hypoplasia 1	Enrichment	PAX6	0.69
1580	Congenital anomalies of kidney and urinary tract 2	Enrichment	HNF1B	0.69
1581	Ichthyosis hystrix, lambert type	Enrichment	KRT10	0.69
1582	Deafness, unilateral	Enrichment	SIX1	0.69
1583	Ichthyosis vulgaris	Enrichment	FLG	0.69
1584	Alopecia, androgenetic, 1	Enrichment	SMARCD1	0.69
1585	Myhre syndrome	Enrichment	SMAD4	0.69
1586	Campomelic dysplasia	Enrichment	SOX9	0.69
1587	Duane retraction syndrome 1	Enrichment	MAFB	0.69
1588	Adrenocortical carcinoma, hereditary	Enrichment	TP53	0.69
1589	Camurati-engelmann disease 1	Enrichment	TGFB1	0.69
1590	Aganglionosis, total intestinal	Enrichment	EDNRB	0.69
1591	Albinism, oculocutaneous, type iii	Enrichment	TYRP1	0.69
1592	Spinal muscular atrophy with progressive myoclonic epilepsy	Enrichment	ASAH1	0.69
1593	Fanconi-bickel syndrome	Enrichment	SLC2A2	0.69
1594	Hyperlipoproteinemia, type i	Enrichment	LPL	0.69
1595	Farber lipogranulomatosis	Enrichment	ASAH1	0.69
1596	Trichomegaly	Enrichment	ARID1B	0.69
1597	Storage pool platelet disease	Enrichment	RUNX1	0.69
1598	Thrombocytopenia, paris-trousseau type	Enrichment	FLI1	0.69
1599	Epidermolysis bullosa, junctional 2c, laryngoonychocutaneous	Enrichment	LAMA3	0.69
1600	Bruck syndrome 1	Enrichment	COL1A2	0.69
1601	Argininemia	Enrichment	MED23	0.69
1602	Mowat-wilson syndrome	Enrichment	ZEB2	0.69
1603	Denys-drash syndrome	Enrichment	WT1	0.69
1604	Agnathia-otocephaly complex	Enrichment	OTX2	0.69
1605	Developmental and epileptic encephalopathy 9	Enrichment	PCDH19	0.69
1606	Spermatogenic failure, y-linked, 2	Enrichment	CFTR	0.69
1607	Ebstein anomaly	Enrichment	CDK8	0.69
1608	Ulnar-mammary syndrome	Enrichment	TBX3	0.69
1609	Myasthenic syndrome, congenital, 5	Enrichment	LAMB2	0.69
1610	Abcd syndrome	Enrichment	EDNRB	0.69
1611	Osteopathia striata with cranial sclerosis	Enrichment	CTNNB1	0.69
1612	Pulmonary hypoplasia, primary	Enrichment	FGF10	0.69
1613	Carotid intimal medial thickness 1	Enrichment	PPARG	0.69
1614	Hardikar syndrome	Enrichment	MED12	0.69
1615	Dermatofibrosarcoma protuberans	Enrichment	COL1A1	0.69
1616	Cervical cancer	Enrichment	TP53	0.69
1617	Axenfeld-rieger syndrome, type 3	Enrichment	FOXC1	0.69
1618	Nephrotic syndrome, type 4	Enrichment	WT1	0.69
1619	Arrhythmogenic right ventricular dysplasia, familial, 11	Enrichment	DSC2	0.69
1620	Vacterl association, x-linked, with or without hydrocephalus	Enrichment	ZIC3	0.69
1621	Opitz-kaveggia syndrome	Enrichment	MED12	0.69
1622	Genitourinary tract anomalies	Enrichment	HOXA11	0.69
1623	Anterior segment dysgenesis 7	Enrichment	PXDN	0.69
1624	Alveolar soft part sarcoma	Enrichment	TFE3	0.69
1625	46,xy gonadal dysgenesis with minifascicular neuropathy	Enrichment	DHH	0.69
1626	Neutropenia, nonimmune chronic idiopathic, of adults	Enrichment	GFI1	0.69
1627	Aortic aneurysm, familial thoracic 2	Enrichment	ACTA2	0.69
1628	Axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities	Enrichment	FOXC1	0.69
1629	Spondylocostal dysostosis 2, autosomal recessive	Enrichment	MESP2	0.69
1630	Premature ovarian failure 3	Enrichment	AGO2	0.69
1631	Chromosome 22q11.2 duplication syndrome	Enrichment	TBX1	0.69
1632	Schwannomatosis 1	Enrichment	SMARCB1	0.69
1633	Branchiootic syndrome 3	Enrichment	SIX1	0.69
1634	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Enrichment	SMAD4	0.69
1635	Immunodeficiency with hyper-igm, type 2	Enrichment	AICDA	0.69
1636	Epidermolysis bullosa simplex 2e, with migratory circinate erythema	Enrichment	KRT5	0.69
1637	Dermatitis, atopic, 2	Enrichment	FLG	0.69
1638	Genitopatellar syndrome	Enrichment	LGI1	0.69
1639	Holoprosencephaly 5	Enrichment	ZIC2	0.69
1640	Glycine n-methyltransferase deficiency	Enrichment	GNMT	0.69
1641	Lymphedema-distichiasis syndrome	Enrichment	FOXC2	0.69
1642	Proximal renal tubular acidosis-ocular anomaly syndrome	Enrichment	SLC4A4	0.69
1643	Complement component c1s deficiency	Enrichment	KMT2D	0.69
1644	Osteogenesis imperfecta, type xv	Enrichment	WNT1	0.69
1645	Smooth muscle dysfunction syndrome	Enrichment	ACTA2	0.69
1646	Diabetes mellitus, permanent neonatal, 1	Enrichment	GCK	0.69
1647	Chromosome 6q24-q25 deletion syndrome	Enrichment	ARID1B	0.69
1648	Duane-radial ray syndrome	Enrichment	SALL4	0.69
1649	Solitary median maxillary central incisor	Enrichment	SHH	0.69
1650	Neutrophilia, hereditary	Enrichment	CSF3R	0.69
1651	Bone marrow failure syndrome 2	Enrichment	GCK	0.69
1652	Melanoma, cutaneous malignant 2	Enrichment	CDKN2A	0.69
1653	Aortic aneurysm, familial thoracic 6	Enrichment	ACTA2	0.69
1654	Optic nerve hypoplasia, bilateral	Enrichment	PAX6	0.69
1655	Orofacial cleft 5	Enrichment	MSX1	0.69
1656	Goiter, multinodular 1, with or without sertoli-leydig cell tumors	Enrichment	DICER1	0.69
1657	Frasier syndrome	Enrichment	WT1	0.69
1658	46,xy sex reversal 9	Enrichment	ZFPM2	0.69
1659	Adams-oliver syndrome 5	Enrichment	NOTCH1	0.69
1660	Duane retraction syndrome 2	Enrichment	MAFB	0.69
1661	Lipase deficiency, combined	Enrichment	LPL	0.69
1662	Charcot-marie-tooth disease, axonal, type 2b2	Enrichment	MED25	0.69
1663	Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1	Enrichment	TERT	0.69
1664	Sifrim-hitz-weiss syndrome	Enrichment	CHD4	0.69
1665	Neutropenia, severe congenital, 2, autosomal dominant	Enrichment	GFI1	0.69
1666	Maturity-onset diabetes of the young, type 10	Enrichment	INS	0.69
1667	Moyamoya disease 5	Enrichment	ACTA2	0.69
1668	Intellectual developmental disorder, autosomal dominant 43	Enrichment	QARS1	0.69
1669	Diarrhea 5, with tufting enteropathy, congenital	Enrichment	EPCAM	0.69
1670	Witkop syndrome	Enrichment	MSX1	0.69
1671	Choanal atresia, posterior	Enrichment	KMT2D	0.69
1672	Pierson syndrome	Enrichment	LAMB2	0.69
1673	Spondylocostal dysostosis 4, autosomal recessive	Enrichment	HES7	0.69
1674	Lymphoma, hodgkin, classic	Enrichment	TP53	0.69
1675	Immunodeficiency, common variable, 12, with autoimmunity	Enrichment	NFKB1	0.69
1676	Congenital disorder of glycosylation, type ix	Enrichment	STT3B	0.69
1677	Intellectual developmental disorder with language impairment and with or without autistic features	Enrichment	FOXP1	0.69
1678	Spastic paraplegia 76, autosomal recessive	Enrichment	CAPN1	0.69
1679	Heterotaxy, visceral, 4, autosomal	Enrichment	ACVR2B	0.69
1680	Osteopetrosis, autosomal recessive 2	Enrichment	TNFSF11	0.69
1681	Neutropenia, severe congenital, 7, autosomal recessive	Enrichment	CSF3R	0.69
1682	Albinism, oculocutaneous, type ia	Enrichment	TYR	0.69
1683	Palmoplantar keratoderma, nonepidermolytic, focal 1	Enrichment	KRT16	0.69
1684	Cardiomyopathy, dilated, 1ff	Enrichment	KLF5	0.69
1685	Skin/hair/eye pigmentation, variation in, 11	Enrichment	TYRP1	0.69
1686	Loeys-dietz syndrome 3	Enrichment	SMAD3	0.69
1687	Adams-oliver syndrome 3	Enrichment	RBPJ	0.69
1688	Peroxisome biogenesis disorder 4b	Enrichment	GNMT	0.69
1689	Oculocutaneous albinism, type viii	Enrichment	DCT	0.69
1690	Neutropenia, severe congenital, 8, autosomal dominant	Enrichment	GATA6	0.69
1691	Anterior segment dysgenesis 3	Enrichment	FOXC1	0.69
1692	Severe combined immunodeficiency with sensitivity to ionizing radiation	Enrichment	ARID1B	0.69
1693	Developmental and epileptic encephalopathy 87	Enrichment	CDK19	0.69
1694	Combined osteogenesis imperfecta and ehlers-danlos syndrome 1	Enrichment	COL1A1	0.69
1695	Epidermolysis bullosa, junctional 3b, severe	Enrichment	LAMC2	0.69
1696	Epidermolysis bullosa, junctional 3a, intermediate	Enrichment	LAMC2	0.69
1697	Gabriele-de vries syndrome	Enrichment	YY1	0.69
1698	Waardenburg syndrome, type 2f	Enrichment	KITLG	0.69
1699	Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities	Enrichment	KAT5	0.69
1700	Hyperproinsulinemia	Enrichment	INS	0.69
1701	Deafness, congenital, and adult-onset progressive leukoencephalopathy	Enrichment	KARS1	0.69
1702	Developmental and epileptic encephalopathy 93	Enrichment	ATP6V1A	0.69
1703	Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive	Enrichment	KRT5	0.69
1704	Specific granule deficiency 2	Enrichment	SMARCD2	0.69
1705	Epidermolysis bullosa, junctional 2a, intermediate	Enrichment	LAMA3	0.69
1706	Epidermolysis bullosa, junctional 5a, intermediate	Enrichment	ITGB4	0.69
1707	Snijders blok-campeau syndrome	Enrichment	CHD3	0.69
1708	Coffin-siris syndrome 8	Enrichment	SMARCC2	0.69
1709	Fanconi anemia, complementation group s	Enrichment	BRCA1	0.69
1710	Bronchiectasis and nasal polyposis	Enrichment	WFDC2	0.69
1711	Sjogren-larsson syndrome	Enrichment	KRT14	0.69
1712	46,xy sex reversal 1	Enrichment	SRY	0.69
1713	Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures	Enrichment	AGO1	0.69
1714	Epidermolytic hyperkeratosis 2a, autosomal dominant	Enrichment	KRT10	0.69
1715	Spastic paraplegia 70, autosomal recessive	Enrichment	MARS1	0.69
1716	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	Enrichment	DLL1	0.69
1717	Autoinflammatory disease, familial, behcet-like 3	Enrichment	RELA	0.69
1718	Ohdo syndrome, x-linked	Enrichment	MED12	0.69
1719	Corneal dystrophy, meesmann, 2	Enrichment	KRT3	0.69
1720	Menke-hennekam syndrome 2	Enrichment	EP300	0.69
1721	Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities	Enrichment	BORCS8-MEF2B	0.69
1722	Inflammatory bowel disease, immunodeficiency, and encephalopathy	Enrichment	TGFB1	0.69
1723	Deafness, autosomal recessive 89	Enrichment	KARS1	0.69
1724	Intravascular large b-cell lymphoma	Enrichment	BCL2	0.69
1725	Ichthyosis, x-linked	Enrichment	FLG	0.69
1726	Nephrotic syndrome, type 5, with or without ocular abnormalities	Enrichment	LAMB2	0.69
1727	Hyperuricemic nephropathy, familial juvenile, 3	Enrichment	HNF1B	0.69
1728	Leukodystrophy, hypomyelinating, 17	Enrichment	AIMP2	0.69
1729	Pancreatic cancer 4	Enrichment	BRCA1	0.69
1730	Osteopetrosis, autosomal recessive 3	Enrichment	CA2	0.69
1731	Alopecia-intellectual disability syndrome 4	Enrichment	CNOT1	0.69
1732	Microphthalmia, isolated 8	Enrichment	ALDH1A3	0.69
1733	Rela fusion-positive ependymoma	Enrichment	RELA	0.69
1734	Intellectual developmental disorder, autosomal dominant 21	Enrichment	CTCF	0.69
1735	Townes-brocks syndrome	Enrichment	SALL1	0.69
1736	Charcot-marie-tooth disease type 2b2	Enrichment	MED25	0.69
1737	Acute basophilic leukemia	Enrichment	MYB	0.69
1738	Focal segmental glomerulosclerosis 7	Enrichment	PAX2	0.69
1739	Pyloric stenosis, infantile hypertrophic, 5	Enrichment	FOXF1	0.69
1740	Acute myeloid leukemia with kat6a-crebbp fusion	Enrichment	CREBBP	0.69
1741	Senior-loken syndrome 7	Enrichment	AKT3	0.69
1742	Split hand-foot malformation	Enrichment	LEF1	0.69
1743	Kleefstra syndrome	Enrichment	KMT2C	0.69
1744	Melanoma-pancreatic cancer syndrome	Enrichment	CDKN2A	0.69
1745	Cleidocranial dysplasia 2	Enrichment	CBFB	0.69
1746	Cataract 30	Enrichment	VIM	0.69
1747	Hypotrichosis 6	Enrichment	DSG4	0.69
1748	Erythrocytosis, familial, 3	Enrichment	EPAS1	0.69
1749	Pancreatic agenesis 2	Enrichment	PTF1A	0.69
1750	Pineoblastoma	Enrichment	DICER1	0.69
1751	Camurati-engelmann disease	Enrichment	TGFB1	0.69
1752	Dermatitis	Enrichment	FLG	0.69
1753	Congenital fibrosarcoma	Enrichment	TP53	0.69
1754	Li-fraumeni syndrome 1	Enrichment	TP53	0.69
1755	Severe congenital neutropenia 7	Enrichment	CSF3R	0.69
1756	Sarcoma	Enrichment	TP53	0.69
1757	Witteveen-kolk syndrome	Enrichment	SIN3A	0.69
1758	Epidermolytic acanthoma	Enrichment	KRT10	0.69
1759	Immunodeficiency with hyper-igm, type 5	Enrichment	UNG	0.69
1760	Diabetes mellitus, permanent neonatal, 4	Enrichment	INS	0.69
1761	Angiocentric glioma	Enrichment	MYB	0.69
1762	Steel syndrome	Enrichment	COL27A1	0.69
1763	Developmental and epileptic encephalopathy 78	Enrichment	YY1	0.69
1764	Melanoma, cutaneous malignant 9	Enrichment	TERT	0.69
1765	Trypsinogen deficiency	Enrichment	PRSS1	0.69
1766	El hayek-chahrour neurodevelopmental syndrome	Enrichment	KDM5A	0.69
1767	Interstitial lung and liver disease	Enrichment	MARS1	0.69
1768	Familial lipoprotein lipase deficiency	Enrichment	LPL	0.69
1769	Cervix carcinoma	Enrichment	TP53	0.69
1770	Hodgkin's lymphoma	Enrichment	TP53	0.69
1771	Aortic valve disease 2	Enrichment	TBX5	0.69
1772	Bardet-biedl syndrome 16	Enrichment	AKT3	0.69
1773	Insulinoma	Enrichment	YY1	0.69
1774	B-lymphoblastic leukemia/lymphoma with hyperdiploidy	Enrichment	GATA3	0.69
1775	Epidermolysis bullosa, junctional 2b, severe	Enrichment	LAMA3	0.69
1776	Proximal symphalangism	Enrichment	NOG	0.69
1777	Hypoparathyroidism-deafness-renal disease syndrome	Enrichment	GATA3	0.69
1778	Idiopathic interstitial pneumonia	Enrichment	TERT	0.69
1779	Inflammatory breast carcinoma	Enrichment	BRCA1	0.69
1780	Esotropia	Enrichment	TFAP2A	0.69
1781	Epilepsy, progressive myoclonic, 8	Enrichment	GDF1	0.69
1782	Charcot-marie-tooth disease, axonal, type 2t	Enrichment	MME	0.69
1783	Stolerman neurodevelopmental syndrome	Enrichment	KDM6B	0.69
1784	Intellectual developmental disorder, autosomal dominant 39	Enrichment	PXDN	0.69
1785	Spondylocostal dysostosis 6, autosomal recessive	Enrichment	RIPPLY2	0.69
1786	Blepharophimosis - intellectual disability syndrome	Enrichment	SMARCA2	0.69
1787	Cholestasis-pigmentary retinopathy-cleft palate syndrome	Enrichment	MED12	0.69
1788	Hereditary mixed polyposis syndrome	Enrichment	GREM1	0.69
1789	Isolated dandy-walker malformation with hydrocephalus	Enrichment	ZIC1	0.69
1790	Juvenile nasopharyngeal angiofibroma	Enrichment	CTNNB1	0.69
1791	Epidermolysis bullosa simplex 2a, generalized severe	Enrichment	KRT5	0.69
1792	Intellectual developmental disorder with hypotonia and behavioral abnormalities	Enrichment	CDK8	0.69
1793	Otofaciocervical syndrome	Enrichment	EYA1	0.69
1794	Axenfeld-rieger syndrome	Enrichment	FOXC1	0.69
1795	Peritoneum cancer	Enrichment	BRCA1	0.69
1796	Childhood-onset epilepsy syndrome	Enrichment	ATP6V0C	0.69
1797	Bilateral breast cancer	Enrichment	BRCA1	0.69
1798	Radioulnar synostosis	Enrichment	MECOM	0.69
1799	Localized junctional epidermolysis bullosa, non-herlitz type	Enrichment	ITGB4	0.69
1800	Med12-related disorders	Enrichment	MED12	0.69
1801	Familial partial lipodystrophy	Enrichment	PPARG	0.69
1802	Autosomal dominant nonsyndromic deafness	Enrichment	GATA3	0.69
1803	Blepharophimosis - intellectual disability syndrome, mkb type	Enrichment	MED12	0.69
1804	Acute myeloid leukemia with t(6;9) (p23;q34.1)	Enrichment	DEK	0.69
1805	Deletion 5q35	Enrichment	NKX2-5	0.69
1806	Posterior hypospadias	Enrichment	MAMLD1	0.69
1807	Autosomal recessive proximal renal tubular acidosis	Enrichment	SLC4A4	0.69
1808	Hyperinsulinism	Enrichment	HNF4A	0.69
1809	X-linked myotubular myopathy-abnormal genitalia syndrome	Enrichment	MAMLD1	0.69
1810	Congenital hypogonadotropic hypogonadism	Enrichment	EMX2	0.69
1811	Kleefstra syndrome due to a point mutation	Enrichment	KMT2C	0.69
1812	Dentinogenesis imperfecta	Enrichment	COL1A2	0.69
1813	Acute myeloid leukemia with t(9;11)(p22;q23)	Enrichment	KMT2A	0.69
1814	Teratoma	Enrichment	CTNNB1	0.69
1815	Primary mediastinal large b-cell lymphoma	Enrichment	XPO1	0.69
1816	B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality	Enrichment	FOXP1	0.69
1817	Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)	Enrichment	MECOM	0.69
1818	Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)	Enrichment	KMT2A	0.69
1819	Malignant granulosa cell tumor of the ovary	Enrichment	DICER1	0.69
1820	B-lymphoblastic leukemia/lymphoma with t(17;19)	Enrichment	TCF3	0.69
1821	Common variable immunodeficiency 12	Enrichment	NFKB1	0.69
1822	Isolated radial hemimelia	Enrichment	SHH	0.69
1823	Lens subluxation	Enrichment	TFAP2A	0.69
1824	Familial patent arterial duct	Enrichment	TFAP2B	0.69
1825	Pleomorphic rhabdomyosarcoma	Enrichment	TP53	0.69
1826	Desmoplastic small round cell tumor	Enrichment	WT1	0.69
1827	Idiopathic/heritable pulmonary arterial hypertension	Enrichment	FOXF1	0.69
1828	Campomelic dysplasia and related disorders	Enrichment	SOX9	0.69
1829	Spastic paraplegia 4, autosomal dominant	Enrichment	COL3A1, TCF4	0.67
1830	Spondylocostal dysostosis 1, autosomal recessive	Enrichment	DLL3, MESP2	0.67
1831	Difference of sex development	Enrichment	NR5A1, WT1	0.67
1832	Myocardial infarction	Enrichment	ITGB3, PSMA6	0.67
1833	Ritscher-schinzel syndrome 1	Enrichment	DPYSL5	0.67
1834	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	Enrichment	ANK2	0.67
1835	Basal cell carcinoma 1	Enrichment	RASA1	0.67
1836	Inflammatory myofibroblastic tumor	Enrichment	CLTC	0.67
1837	Familial adult myoclonic epilepsy	Enrichment	CNTN2	0.67
1838	Early myoclonic encephalopathy	Enrichment	TUBA1A	0.67
1839	Multicystic kidney dysplasia	Enrichment	KIF4A	0.67
1840	Childhood absence epilepsy	Enrichment	CACNA1H	0.67
1841	Multicystic dysplastic kidney	Enrichment	KIF4A	0.67
1842	Renal cell carcinoma, nonpapillary	Enrichment	HNF1A, HNF1B, MET	0.66
1843	Osteogenesis imperfecta, type iii	Enrichment	COL1A1, COL1A2, WNT1	0.66
1844	Attention deficit-hyperactivity disorder	Enrichment	RPL17	0.64
1845	Congenital nervous system abnormality	Enrichment	ANK3, DCX, PSEN1, TUBA1A, TUBB4A, VLDLR	0.62
1846	Nervous system disease	Enrichment	ANK3, DCX, PSEN1, TUBA1A, TUBB4A, VLDLR	0.62
1847	Human immunodeficiency virus type 1	Enrichment	CXCL12	0.62
1848	Renal cell carcinoma, papillary, 1	Enrichment	MET	0.61
1849	Multiple enchondromatosis, maffucci type	Enrichment	COL2A1	0.61
1850	Overgrowth syndrome	Enrichment	PIK3R1	0.61
1851	Parkinson disease, late-onset	Enrichment	EIF4G1	0.61
1852	Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay	Enrichment	ARID1A, ARID1B, FLG	0.61
1853	Hydrocephalus, congenital, 1	Enrichment	CDK8, KIF4A, MED12	0.61
1854	Orofacial cleft 1	Enrichment	FGF10, MAFB	0.59
1855	Loeys-dietz syndrome	Enrichment	SMAD2, SMAD3	0.59
1856	Atypical chronic myeloid leukemia, bcr-abl1 negative	Enrichment	CSF3R, RUNX1	0.59
1857	Primary hyperaldosteronism	Enrichment	CACNA1H, TP53	0.59
1858	Cowden syndrome	Enrichment	AKT1, PIK3CA	0.59
1859	Usher syndrome, type iia	Enrichment	ADGRV1	0.59
1860	Motor neuron disease	Enrichment	MPZ	0.59
1861	Hemochromatosis, type 1	Enrichment	HJV	0.56
1862	Alternating hemiplegia of childhood	Enrichment	SCN2A	0.56
1863	Cryptorchidism	Enrichment	TUBA1A	0.56
1864	Catecholaminergic polymorphic ventricular tachycardia 1	Enrichment	ANK2	0.56
1865	Hypothyroidism	Enrichment	RET	0.56
1866	Early-onset posterior polar cataract	Enrichment	EPHA2	0.56
1867	Cardiomyopathy, dilated, 1e	Enrichment	MED12, PKP2, SCN5A	0.56
1868	Congenital muscular dystrophy	Enrichment	LAMA2	0.54
1869	Neuroblastoma	Enrichment	SMARCA4	0.54
1870	Brachydactyly, type a1	Enrichment	IHH	0.54
1871	Desmoid disease, hereditary	Enrichment	CTNNB1	0.54
1872	Lacrimoauriculodentodigital syndrome 1	Enrichment	FGF10	0.54
1873	Prune belly syndrome	Enrichment	MYOCD	0.54
1874	Jacobsen syndrome	Enrichment	FLI1	0.54
1875	Oculopharyngeal muscular dystrophy 1	Enrichment	PABPN1	0.54
1876	Type 1 diabetes mellitus 2	Enrichment	INS	0.54
1877	Zimmermann-laband syndrome 1	Enrichment	ATP6V1B2	0.54
1878	Alagille syndrome 1	Enrichment	JAG1	0.54
1879	Mesothelioma, malignant	Enrichment	WT1	0.54
1880	Right atrial isomerism	Enrichment	GDF1	0.54
1881	Juvenile polyposis syndrome	Enrichment	SMAD4	0.54
1882	Megalocornea	Enrichment	COL11A1	0.54
1883	Nijmegen breakage syndrome	Enrichment	GCK	0.54
1884	Ichthyosis, congenital, autosomal recessive 1	Enrichment	TGM1	0.54
1885	Gillespie syndrome	Enrichment	PAX6	0.54
1886	Nail disorder, nonsyndromic congenital, 4	Enrichment	KRT17	0.54
1887	Hypophosphatasia, infantile	Enrichment	COL11A2	0.54
1888	Syndactyly, type iv	Enrichment	SHH	0.54
1889	Ifap syndrome 1, with or without bresheck syndrome	Enrichment	SREBF1	0.54
1890	Hirschsprung disease 2	Enrichment	EDNRB	0.54
1891	Platelet disorder, familial, with associated myeloid malignancy	Enrichment	RUNX1	0.54
1892	Pierpont syndrome	Enrichment	TBL1XR1	0.54
1893	Epilepsy, familial temporal lobe, 1	Enrichment	LGI1	0.54
1894	Glomerulopathy with fibronectin deposits 2	Enrichment	FN1	0.54
1895	Obesity, early-onset, with adrenal insufficiency and red hair	Enrichment	POMC	0.54
1896	Autoimmune disease 1	Enrichment	FOXD3	0.54
1897	Sarcoma, synovial	Enrichment	SS18	0.54
1898	Osteogenic sarcoma	Enrichment	TP53	0.54
1899	Alveolar capillary dysplasia with misalignment of pulmonary veins	Enrichment	FOXF1	0.54
1900	Corneal dystrophy, posterior polymorphous, 3	Enrichment	ZEB1	0.54
1901	Corneal dystrophy, fuchs endothelial, 6	Enrichment	ZEB1	0.54
1902	Cone-rod dystrophy 12	Enrichment	PROM1	0.54
1903	Nasopharyngeal carcinoma	Enrichment	TP53	0.54
1904	Diaphragmatic hernia 3	Enrichment	ZFPM2	0.54
1905	Adiponectin deficiency	Enrichment	ADIPOQ	0.54
1906	Epidermolysis bullosa, lethal acantholytic	Enrichment	JUP	0.54
1907	Neurodevelopmental disorder with spastic diplegia and visual defects	Enrichment	CTNNB1	0.54
1908	Caffey disease	Enrichment	COL1A1	0.54
1909	Woolly hair, autosomal recessive 3	Enrichment	KRT25	0.54
1910	Microcephaly, postnatal progressive, with seizures and brain atrophy	Enrichment	MED17	0.54
1911	Congenital heart defects, multiple types, 6	Enrichment	GDF1	0.54
1912	Lipodystrophy, familial partial, type 4	Enrichment	PLIN1	0.54
1913	Miller-dieker lissencephaly syndrome	Enrichment	YWHAE	0.54
1914	Brown-vialetto-van laere syndrome 2	Enrichment	GNMT	0.54
1915	Chromosome 17p13.3, centromeric, duplication syndrome	Enrichment	YWHAE	0.54
1916	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	Enrichment	QARS1	0.54
1917	Exudative vitreoretinopathy 7	Enrichment	CTNNB1	0.54
1918	Epidermolysis bullosa, junctional 6, with pyloric atresia	Enrichment	ITGA6	0.54
1919	Keratoderma-ichthyosis-deafness syndrome, autosomal recessive	Enrichment	HNF1A	0.54
1920	Intellectual developmental disorder, autosomal dominant 61	Enrichment	MED13	0.54
1921	Epidermolysis bullosa simplex 2b, generalized intermediate	Enrichment	KRT5	0.54
1922	Epidermolytic hyperkeratosis 2b, autosomal recessive	Enrichment	KRT10	0.54
1923	Hypotrichosis 8	Enrichment	KRT25	0.54
1924	Tethered spinal cord syndrome	Enrichment	CREBBP	0.54
1925	Nail disorder, nonsyndromic congenital, 9	Enrichment	ARID1B	0.54
1926	Coffin-siris syndrome 2	Enrichment	ARID1A	0.54
1927	Umbilical hernia	Enrichment	ACTL6A	0.54
1928	Breast implant-associated anaplastic large cell lymphoma	Enrichment	STAT3	0.54
1929	Desmoid tumor	Enrichment	CTNNB1	0.54
1930	Hyper ige syndrome	Enrichment	STAT3	0.54
1931	Klippel-feil syndrome 2	Enrichment	RIPPLY2	0.54
1932	Dedifferentiated liposarcoma	Enrichment	CDK4	0.54
1933	Keratosis palmoplantaris striata	Enrichment	KRT1	0.54
1934	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	Enrichment	PERP	0.54
1935	Loeys-dietz syndrome 1	Enrichment	SMAD2	0.54
1936	Interstitial lung disease	Enrichment	TERT	0.54
1937	Testicular germ cell cancer	Enrichment	KIT	0.54
1938	Leukodystrophy and acquired microcephaly with or without dystonia	Enrichment	DLL3	0.54
1939	Anaplastic astrocytoma	Enrichment	TP53	0.54
1940	Hypoplastic or aplastic tibia with polydactyly	Enrichment	SHH	0.54
1941	Squamous cell carcinoma	Enrichment	TP53	0.54
1942	Adenocarcinoma	Enrichment	TP53	0.54
1943	Periventricular leukomalacia	Enrichment	ARID1A	0.54
1944	Intellectual developmental disorder, autosomal dominant 41	Enrichment	TBL1XR1	0.54
1945	End stage renal disease	Enrichment	GATA3	0.54
1946	Bone osteosarcoma	Enrichment	TP53	0.54
1947	Desmoplastic/nodular medulloblastoma	Enrichment	CTCF	0.54
1948	Epidermolysis bullosa simplex 2c, localized	Enrichment	KRT5	0.54
1949	Adenoid cystic carcinoma	Enrichment	MYB	0.54
1950	Schwannomatosis	Enrichment	SMARCB1	0.54
1951	Lessel-kreienkamp syndrome	Enrichment	AGO2	0.54
1952	Phosphoenolpyruvate carboxykinase deficiency	Enrichment	PCK1	0.54
1953	Isolated anophthalmia-microphthalmia syndrome	Enrichment	ALDH1A3	0.54
1954	Palmoplantar keratosis	Enrichment	KRT9	0.54
1955	Well-differentiated liposarcoma	Enrichment	CDK4	0.54
1956	Mixed phenotype acute leukemia with t	Enrichment	KMT2A	0.54
1957	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with runx1	Enrichment	RUNX1	0.54
1958	Isolated dandy-walker malformation without hydrocephalus	Enrichment	ZIC1	0.54
1959	Self-improving collodion baby	Enrichment	TGM1	0.54
1960	Obesity due to pro-opiomelanocortin deficiency	Enrichment	POMC	0.54
1961	Breast cancer	Enrichment	AKT1, BRCA1, EPCAM, HNF1A, JUN, KRAS, PIK3CA, RET, SHC1, TP53	0.53
1962	Optic nerve disease	Enrichment	KARS1, TYR	0.53
1963	Familial colorectal cancer	Enrichment	GREM1, TP53	0.53
1964	Primary bone dysplasia	Enrichment	COL1A1, COL1A2	0.53
1965	Cryptorchidism, unilateral or bilateral	Enrichment	TUBA1A	0.52
1966	Coronary heart disease 5	Enrichment	KALRN	0.52
1967	Hypogonadotropic hypogonadism	Enrichment	FGFR1	0.52
1968	Hydrops fetalis	Enrichment	L1CAM	0.52
1969	Genetic steroid-resistant nephrotic syndrome	Enrichment	COL4A3, LAMA5, PAX2, TRPC6, WT1	0.51
1970	Limb-girdle muscular dystrophy	Enrichment	HMGCR	0.50
1971	Left ventricular noncompaction	Enrichment	NKX2-5, PKP2, PRDM16, SCN5A, TBX20	0.48
1972	Marfan syndrome	Enrichment	COL2A1	0.48
1973	Meningioma, familial	Enrichment	SMARCB1, SMARCE1	0.47
1974	Myelodysplastic syndrome	Enrichment	GATA2, TP53	0.47
1975	Combined immunodeficiency	Enrichment	ARPC1B, TFRC	0.47
1976	Osteochondrodysplasia	Enrichment	COL1A1, COL1A2	0.47
1977	Combined t cell and b cell immunodeficiency	Enrichment	ARPC1B, TFRC	0.47
1978	Combined t and b cell immunodeficiency	Enrichment	ARPC1B, TFRC	0.47
1979	Presynaptic congenital myasthenic syndromes	Enrichment	AGRN, LAMA5	0.47
1980	Pectus excavatum	Enrichment	PTPN11	0.45
1981	Movement disease	Enrichment	SCN2A	0.45
1982	Isolated growth hormone deficiency, type ii	Enrichment	MED13	0.43
1983	Otitis media	Enrichment	SPINK5	0.43
1984	Polydactyly, preaxial ii	Enrichment	SHH	0.43
1985	Klippel-feil syndrome 2, autosomal recessive	Enrichment	RIPPLY2	0.43
1986	Small cell cancer of the lung	Enrichment	TP53	0.43
1987	Deafness, autosomal recessive 1a	Enrichment	GJB3	0.43
1988	Phenylketonuria	Enrichment	COL1A1	0.43
1989	Chordoma	Enrichment	TBXT	0.43
1990	Microphthalmia, syndromic 3	Enrichment	SOX2	0.43
1991	Thyroid cancer, nonmedullary, 1	Enrichment	TP53	0.43
1992	Dermatitis, atopic	Enrichment	FLG	0.43
1993	Autoimmune lymphoproliferative syndrome	Enrichment	ACTA2	0.43
1994	Auriculocondylar syndrome 1	Enrichment	EDN1	0.43
1995	Lipodystrophy, familial partial, type 3	Enrichment	PPARG	0.43
1996	Persistent mullerian duct syndrome, types i and ii	Enrichment	AMH	0.43
1997	Pitt-hopkins syndrome	Enrichment	TCF4	0.43
1998	Epidermolysis bullosa simplex 5c, with pyloric atresia	Enrichment	ITGB4	0.43
1999	Pilomatrixoma	Enrichment	CTNNB1	0.43
2000	Cholangiocarcinoma	Enrichment	BRCA1	0.43
2001	Spermatogenic failure 1	Enrichment	NR5A1	0.43
2002	Arthrogryposis multiplex congenita 2, neurogenic type	Enrichment	LGI4	0.43
2003	Alazami syndrome	Enrichment	CTNNB1	0.43
2004	Intellectual developmental disorder, autosomal dominant 26	Enrichment	KMT2D	0.43
2005	Congenital generalized lipodystrophy	Enrichment	PPARG	0.43
2006	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	Enrichment	POLR2A	0.43
2007	Mantle cell lymphoma	Enrichment	CCND1	0.43
2008	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies	Enrichment	CNOT3	0.43
2009	Neonatal diabetes mellitus	Enrichment	INS	0.43
2010	Generalized epilepsy	Enrichment	STX1B	0.43
2011	Aortic aneurysm	Enrichment	SMAD3	0.43
2012	Craniopharyngioma	Enrichment	CTNNB1	0.43
2013	Corneal dystrophy	Enrichment	ZEB1	0.43
2014	Idiopathic bronchiectasis	Enrichment	CFTR	0.43
2015	Persistent mullerian duct syndrome	Enrichment	AMH	0.43
2016	Autosomal recessive osteopetrosis	Enrichment	TNFSF11	0.43
2017	Gjb2-related autosomal recessive nonsyndromic hearing loss	Enrichment	GJB3	0.43
2018	Eyelid coloboma	Enrichment	PAX6	0.43
2019	Cerebral malaria	Enrichment	CD36	0.43
2020	Vacterl association	Enrichment	FOXF1	0.43
2021	Full schwannomatosis	Enrichment	SMARCB1	0.43
2022	Systemic mastocytosis with associated hematologic neoplasm	Enrichment	KIT	0.43
2023	Cleft lip and alveolus	Enrichment	MSX1	0.43
2024	Lens coloboma	Enrichment	PAX6	0.43
2025	Usher syndrome type 2	Enrichment	ADGRV1	0.43
2026	Congenital hypothyroidism	Enrichment	PAX8, TUBB1	0.42
2027	Renal hypodysplasia/aplasia 3	Enrichment	BMP4, RET	0.42
2028	Cutis laxa	Enrichment	ATP6V1E1, COL5A1	0.42
2029	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	PFN1, PSEN1, TREM2	0.40
2030	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	CFTR, DMRT1, FGF8, GATA4, NR5A1, PTPN11, RPL10L	0.39
2031	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly	Enrichment	COL5A1	0.39
2032	Neural tube defects	Enrichment	ITGB1	0.39
2033	Alzheimer's disease	Enrichment	PSEN1	0.39
2034	Clubfoot	Enrichment	COL5A1	0.39
2035	Stereotypic movement disorder	Enrichment	DNM1	0.39
2036	Nk-cell enteropathy	Enrichment	PIK3CB	0.39
2037	Hypercholesterolemia, familial, 1	Enrichment	SMARCA4	0.38
2038	Sensorineural hearing loss	Enrichment	COL11A2, COL9A1, EDN3, KARS1, RET, ZSCAN10	0.37
2039	Hypogonadotropic hypogonadism 7 with or without anosmia	Enrichment	FGFR1	0.37
2040	Medulloblastoma	Enrichment	ANK3	0.37
2041	Pheochromocytoma	Enrichment	RET	0.37
2042	Congenital myasthenic syndrome	Enrichment	AGRN	0.37
2043	Lymphoma, mucosa-associated lymphoid type	Enrichment	FOXP1	0.36
2044	Kbg syndrome	Enrichment	TBX1	0.36
2045	Exudative vitreoretinopathy 1	Enrichment	CTNNB1	0.36
2046	Vater/vacterl association	Enrichment	FOXF1	0.36
2047	Von hippel-lindau syndrome	Enrichment	CCND1	0.36
2048	Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative	Enrichment	SALL4	0.36
2049	Vitamin d-dependent rickets, type 2a	Enrichment	PRSS1	0.36
2050	Atrioventricular septal defect	Enrichment	TBX5	0.36
2051	Chondrosarcoma, extraskeletal myxoid	Enrichment	TCF12	0.36
2052	Night blindness, congenital stationary, type 1c	Enrichment	TRPM1	0.36
2053	Breast-ovarian cancer, familial 2	Enrichment	BRCA1	0.36
2054	Leber congenital amaurosis 10	Enrichment	WT1	0.36
2055	Liver failure, infantile, transient	Enrichment	LARS1	0.36
2056	Rubinstein-taybi syndrome 2	Enrichment	EP300	0.36
2057	Follicular lymphoma	Enrichment	BCL2	0.36
2058	Acute myeloid leukemia with maturation	Enrichment	KIT	0.36
2059	Osteopetrosis	Enrichment	CA2	0.36
2060	Night blindness	Enrichment	TRPM1	0.36
2061	Juvenile glaucoma	Enrichment	FOXC1	0.36
2062	2q23.1 microduplication syndrome	Enrichment	ACVR2A	0.36
2063	Aplasia cutis congenita	Enrichment	ITGB4	0.36
2064	Cleft upper lip	Enrichment	MSX1	0.36
2065	Autosomal dominant severe congenital neutropenia	Enrichment	GFI1	0.36
2066	Inherited acute myeloid leukemia	Enrichment	CEBPA	0.36
2067	Aggressive systemic mastocytosis	Enrichment	RUNX1	0.36
2068	Generalized juvenile polyposis/juvenile polyposis coli	Enrichment	SMAD4	0.36
2069	Idiopathic aplastic anemia	Enrichment	TERT	0.36
2070	Autosomal recessive non-syndromic intellectual disability	Enrichment	AIMP1, EZR, GRIN1, KDM5B, MED23, MED25, METTL23	0.35
2071	Hydrocephalus	Enrichment	KIF4A	0.34
2072	Body mass index quantitative trait locus 11	Enrichment	MC3R, MC4R, MYH9, POMC, PPARG, SCN1A	0.34
2073	Brittle bone disorder	Enrichment	COL1A1, COL1A2, WNT1	0.34
2074	Usher syndrome, type i	Enrichment	ADGRV1	0.33
2075	Familial hypercholesterolemia	Enrichment	SMARCA4	0.33
2076	Isolated congenital microcephaly	Enrichment	TUBA3E	0.32
2077	Ear malformation	Enrichment	ADGRV1, COL11A2, MITF	0.31
2078	Dandy-walker syndrome	Enrichment	TUBA1A	0.31
2079	Cataract 44	Enrichment	EPHA2	0.31
2080	Syndromic intellectual disability	Enrichment	TRIO	0.31
2081	Wilms tumor 1	Enrichment	DIS3L2, WT1	0.31
2082	Autosomal recessive congenital ichthyosis	Enrichment	LIPN, TGM1	0.31
2083	Coloboma of optic nerve	Enrichment	PAX6	0.30
2084	Corneal dystrophy, posterior polymorphous, 1	Enrichment	ZEB1	0.30
2085	Weyers acrofacial dysostosis	Enrichment	CTNNB1	0.30
2086	Facioscapulohumeral muscular dystrophy 1	Enrichment	DUX4	0.30
2087	Hyperinsulinemic hypoglycemia, familial, 1	Enrichment	GCK	0.30
2088	Pendred syndrome	Enrichment	DIAPH1	0.30
2089	Anxiety	Enrichment	OTX2	0.30
2090	Renal dysplasia, cystic	Enrichment	WNT9B	0.30
2091	Kleefstra syndrome 1	Enrichment	KMT2C	0.30
2092	Congenital anomalies of kidney and urinary tract 1	Enrichment	PAX2	0.30
2093	Inflammatory bowel disease 25, autosomal recessive	Enrichment	TGFB1	0.30
2094	Immunodeficiency-centromeric instability-facial anomalies syndrome	Enrichment	UHRF1	0.30
2095	Pulmonary fibrosis	Enrichment	TERT	0.30
2096	Clear cell renal cell carcinoma	Enrichment	HNF1A	0.30
2097	Hoyeraal-hreidarsson syndrome	Enrichment	TERT	0.30
2098	Il10-related early-onset inflammatory bowel disease	Enrichment	TGFB1	0.30
2099	Autosomal dominant secondary polycythemia	Enrichment	EPAS1	0.30
2100	Inherited arrhythmogenic cardiomyopathy	Enrichment	PKP2	0.30
2101	Glycine encephalopathy	Enrichment	PCDH19	0.30
2102	Nonsyndromic genetic hyperinsulinism	Enrichment	GCK	0.30
2103	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	ADGRV1, MET, MYH9, RDX	0.30
2104	Cleft palate, isolated	Enrichment	SMARCA4	0.29
2105	Beckwith-wiedemann syndrome	Enrichment	COL6A1	0.29
2106	Neuromuscular disease	Enrichment	SPTAN1	0.29
2107	Polycystic kidney disease	Enrichment	COL4A4	0.29
2108	Normosmic congenital hypogonadotropic hypogonadism	Enrichment	FGFR1	0.29
2109	Early-onset nuclear cataract	Enrichment	EPHA2	0.29
2110	Esophageal atresia/tracheoesophageal fistula	Enrichment	ITSN1	0.27
2111	Auditory neuropathy	Enrichment	CDH2, DIAPH1, TUBB4A	0.26
2112	Esophageal cancer	Enrichment	TP53	0.26
2113	Multiple endocrine neoplasia, type i	Enrichment	CDKN1A	0.26
2114	Arima syndrome	Enrichment	ZNF423	0.26
2115	Glaucoma 3, primary congenital, a	Enrichment	PXDN	0.26
2116	Gastrointestinal stromal tumor	Enrichment	KIT	0.26
2117	Essential thrombocythemia	Enrichment	TP53	0.26
2118	Common variable immunodeficiency	Enrichment	NFKB1	0.26
2119	Vesicoureteral reflux	Enrichment	MED13L	0.26
2120	Paroxysmal dystonia	Enrichment	FLG	0.26
2121	Congenital hydrocephalus	Enrichment	SMARCC1	0.26
2122	Williams-beuren syndrome	Enrichment	LIMK1	0.26
2123	Hereditary breast ovarian cancer syndrome	Enrichment	BRCA1, CTNNA1, CTNNA2, KRAS, MITF, TP53	0.25
2124	Polycystic liver disease	Enrichment	CTNNB1, HNF4A	0.25
2125	Autosomal dominant polycystic liver disease	Enrichment	CTNNB1, HNF4A	0.25
2126	Endometrial cancer	Enrichment	PIK3CA	0.24
2127	Hereditary paraganglioma-pheochromocytoma syndromes	Enrichment	RET	0.24
2128	Leber congenital amaurosis 1	Enrichment	PROM1	0.22
2129	Lymphoma, non-hodgkin, familial	Enrichment	TP53	0.22
2130	Glycine encephalopathy 1	Enrichment	PCDH19	0.22
2131	Ewing sarcoma	Enrichment	FLI1	0.22
2132	Exudative vitreoretinopathy	Enrichment	CTNNB1	0.22
2133	Severe congenital neutropenia	Enrichment	CSF3R	0.22
2134	Infantile nephronophthisis	Enrichment	ZNF423	0.22
2135	Malaria	Enrichment	SCN8A	0.22
2136	Cardiomyopathy, familial hypertrophic, 1	Enrichment	CACNA1C	0.21
2137	Muscular dystrophy	Enrichment	COL6A2	0.21
2138	Neuropathy, hereditary motor and sensory, okinawa type	Enrichment	MED25, MME	0.20
2139	Jeune thoracic dystrophy	Enrichment	SPTAN1	0.20
2140	Tooth agenesis, selective, 1	Enrichment	MSX1	0.19
2141	Cornelia de lange syndrome 1	Enrichment	KMT2A	0.19
2142	Bronchiectasis with or without elevated sweat chloride 1	Enrichment	CFTR	0.19
2143	Vas deferens, congenital bilateral aplasia of	Enrichment	CFTR	0.19
2144	Arrhythmogenic right ventricular dysplasia, familial, 9	Enrichment	PKP2	0.19
2145	Leukemia, acute lymphoblastic 3	Enrichment	WT1	0.19
2146	Cystic kidney disease	Enrichment	PAX2	0.19
2147	Colonic benign neoplasm	Enrichment	EPCAM	0.19
2148	Cornelia de lange syndrome	Enrichment	KMT2A	0.19
2149	Leukodystrophy	Enrichment	KARS1, RARS1	0.18
2150	Visceral heterotaxy 5	Enrichment	DAND5, GDF1, NODAL	0.17
2151	Asphyxiating thoracic dystrophy	Enrichment	SPTAN1	0.17
2152	Schizophrenia	Enrichment	CNTN6, RELN	0.17
2153	Cataract 30, multiple types	Enrichment	VIM	0.17
2154	Lynch syndrome 1	Enrichment	EPCAM	0.17
2155	Amelogenesis imperfecta, type ie	Enrichment	LAMB3	0.17
2156	Ciliary dyskinesia, primary, 3	Enrichment	NFKB1	0.17
2157	Congenital nonbullous ichthyosiform erythroderma	Enrichment	TGM1	0.17
2158	Severe covid-19	Enrichment	ITGAV	0.16
2159	Cystic fibrosis	Enrichment	CFTR, STX1A, TGFB1	0.16
2160	Stargardt disease 1	Enrichment	COL2A1	0.15
2161	Leukemia, acute lymphoblastic	Enrichment	CDKN2A	0.14
2162	Uterine corpus cancer	Enrichment	BRCA1	0.14
2163	Heritable pulmonary arterial hypertension	Enrichment	SOX17	0.14
2164	Male infertility	Enrichment	CFTR, DMRT1, NR5A1	0.14
2165	Short-rib thoracic dysplasia 1 with or without polydactyly	Enrichment	SPTAN1	0.13
2166	Severe combined immunodeficiency	Enrichment	PTPRC	0.13
2167	Deafness, autosomal recessive	Enrichment	ADGRV1, MYH9	0.13
2168	Autosomal recessive nonsyndromic deafness	Enrichment	ADGRV1, MYH9	0.13
2169	Lactic acidosis	Enrichment	KARS1	0.13
2170	46 xx gonadal dysgenesis	Enrichment	NR5A1	0.13
2171	Usher syndrome	Enrichment	ADGRV1	0.12
2172	Breast-ovarian cancer, familial 1	Enrichment	BRCA1	0.11
2173	Chromosome 1p36 deletion syndrome	Enrichment	PRDM16	0.11
2174	Amelogenesis imperfecta	Enrichment	LAMB3	0.11
2175	Periventricular nodular heterotopia	Enrichment	BRCA1	0.10
2176	Hereditary spastic paraplegia	Enrichment	SPTAN1	0.09
2177	Polydactyly, postaxial, type a1	Enrichment	EP300	0.09
2178	Male infertility with spermatogenesis disorder	Enrichment	KMT2D	0.09
2179	Hypertrophic cardiomyopathy	Enrichment	PTPN11	0.08
2180	Optic atrophy plus syndrome	Enrichment	TUBB6	0.08
2181	Dilated cardiomyopathy	Enrichment	LAMA2, SCN5A	0.07
2182	Interstitial lung disease 2	Enrichment	TERT	0.07
2183	Dyskeratosis congenita	Enrichment	TERT	0.05
2184	Primary ovarian insufficiency	Enrichment	DPPA2, MECOM, NR5A2, WT1	0.05
2185	Multisystem inflammatory syndrome in children	Enrichment	RAB27A	0.04
2186	Congenital stationary night blindness	Enrichment	TRPM1	0.03
2187	Cone-rod dystrophy 2	Enrichment	SEMA4A	0.03
2188	Autoinflammatory disease	Enrichment	RAB27A	0.03
2189	Leber plus disease	Enrichment	TUBB4B	0.01
2190	Fanconi anemia, complementation group a	Enrichment	BRCA1	0.01
2191	Dystonia	Enrichment	MYO5A	0.01
2192	Eye disease	Enrichment	TYR	0.01
2193	Hereditary retinal dystrophy	Enrichment	ADGRV1, COL2A1, COL9A1, LAMA1, SEMA4A	0.00
2194	Fundus dystrophy	Enrichment	ADGRV1, COL2A1, COL9A1, LAMA1, SEMA4A	0.00
2195	Retinitis pigmentosa	Enrichment	ADGRV1, SEMA4A	0.00

¹ WikiPathways

² PubChem

³ R&D Systems

⁴ Reactome

⁵ GeneGo (Thomson Reuters)

⁶ QIAGEN

⁷ PharmGKB

⁸ Cell Signaling Technology

⁹ Sino Biological

¹⁰ Tocris

¹¹ MalaCards

Nervous system development

Pathway Network for Nervous system development

Pathway network for the Nervous system development SuperPath

Member Pathways for Nervous system development

Pathways in the Nervous system development SuperPath

Gene overlap in member pathways for Nervous system development SuperPath

Associated Genes for Nervous system development

Associated Disorders for Nervous system development

Disorders associated with Nervous system development SuperPath

STRING Interaction Network for Nervous system development

Sources for Nervous system development