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Disorder Names

Aarskog-Scott syndrome(ACSL4, ADNP, AFF2, AGTR2, AHI1, ANK3, ANKRD11, AP1S1, AP1S2, AP3B2, ARFGEF2, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARL13B, ATP10A, ATP6AP2, ATP7A, ATP8A2, ATP13A2, ATRX, AUTS2, BCAP31, BCL11A, BCOR, BRWD3, C12orf57, CA8, CACNA1A, CACNG2, CAMTA1, CASK, CBS, CC2D1A, CC2D2A, CCDC22, CDH15, CDKL5, CEP290, CEP41, CHD2, CHKB, CIC, CLIC2, CLN3, CLN5, CLN6, CLN8, CNNM2, CNTNAP2, CRADD, CRBN, CREBBP, CTNNB1, CTSD, CUL4B, DCAF17, DCX, DEAF1, DIP2B, DLG3, DMD, DNAJC5, DNM1, DNMT3A, DOCK8, DPP6, DYNC1H1, DYRK1A, EFHC2, EFTUD2, EHMT1, ELK1, ELOVL4, ELP2, ENTPD1, EP300, EPB41L1, ESCO2, FGD1, FGFR2, FKRP, FKTN, FLNA, FMN2, FMR1, FOXP1, FRMPD4, FTSJ1, GAMT, GATM, GDI1, GFAP, GNB5, GPC3, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRM1, GRN, HDAC4, HDAC8, HEPACAM, HNRNPU, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IGF1, IL1RAPL1, INPP5E, IQSEC2, IRX5, ISPD, ITPR1, KAT6B, KCNJ10, KCNK9, KCTD7, KDM5C, KIAA1033, KIAA2022, KIF11, KIF1A, KIF7, KIRREL3, L1CAM, LAMA1, LAMP2, LARGE, LINS, MAGT1, MAN1B1, MAOA, MBD5, MBTPS2, MCPH1, MECP2, MED12, MED13L, MED23, MEF2C, MFSD8, MGAT2, MTHFR, MYT1L, NDP, NDST1, NIPBL, NLGN4X, NR2F1, NRXN1, NSD1, NSDHL, NSUN2, NXF5, OCRL, OFD1, OMG, OPHN1, OTC, PAFAH1B1, PAK3, PAX6, PCDH19, PDHA1, PDHX, PEX11B, PEX7, PGK1, PHF6, PHF8, PIGL, PIGO, PIGV, PLP1, POGZ, POLG, POMGNT1, POMT1, POMT2, PORCN, POU1F1, PPM1D, PPP2R1A, PPT1, PQBP1, PRMT7, PRPS1, PRSS12, PTCHD1, RAB39B, RAB3GAP2, RAB40AL, RAD21, RBBP8, RPGRIP1L, RPS6KA3, SATB2, SETBP1, SHROOM4, SIL1, SLC16A1, SLC16A2, SLC2A1, SLC4A4, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, SMC3, SMS, SOBP, SOX3, SOX5, SPTAN1, SRD5A3, SRPX2, ST3GAL3, STXBP1, SYNGAP1, SYP, TAF2, TBC1D24, TBCE, TBL1XR1, TCF4, TCTN1, TCTN2, TECR, TMCO1, TMEM138, TMEM216, TMEM237, TMEM67, TPP1, TRAPPC9, TRIO, TSPAN7, TTC21B, TTI2, TUBA1A, TUSC3, UBE2A, UBE3A, UPF3B, USP9X, VLDLR, WDR81, WWOX, ZBTB16, ZCCHC12, ZDHHC15, ZDHHC9, ZEB2, ZMYND11, ZNF41, ZNF674, ZNF711, ZNF81)

Abetalipoproteinaemia(ABCA1, ABCG5, ABCG8, ACAT2, AGPAT2, ANGPTL3, APOA1, APOA2, APOA5, APOB, APOC2, APOC3, APOE, BSCL2, CAV1, CETP, CIDEC, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP21A2, CYP24A1, CYP27B1, DECR1, DGAT1, EPHX2, GPD1, GPIHBP1, HSD3B2, JAG1, LCAT, LDLR, LDLRAP1, LIPC, LIPE, LIPI, LMF1, LMNA, LPL, MTTP, NOTCH2, PANK2, PCSK9, PLIN1, PPARG, PSMB8, PTRF, SAR1B, SMPD1, SPTLC1, SPTLC2, USF1)

Ablepharon-macrostomia syndrome(ANTXR1, APCDD1, ATP7A, BCS1L, BRAF, CDH3, CDSN, CLDN1, DCAF17, DLX3, DSC3, DSG1, DSG4, DSP, EDA, EDAR, EDARADD, EDNRA, ERCC2, ERCC3, FOXN1, GJA1, GJB2, GJB6, GTF2H5, HR, JUP, KRAS, KRT14, KRT74, KRT81, KRT83, KRT85, KRT86, LIPH, LPAR6, MAP2K1, MAP2K2, MBTPS2, MPLKIP, OFD1, PKP1, PVRL1, PVRL4, RBM28, RECQL4, RIN2, RMRP, RNF113A, RPL21, SHOC2, SKIV2L, SLC39A4, SMARCA2, SPINK5, ST14, TRPS1, TTC37, TWIST2, VDR, WNT10A)

Abnormal mineralization disorders(ALPL, ANKH, CASR, CDC73, CLCN5, CYP27B1, CYP2R1, DLX3, DMP1, ENPP1, FAH, FGF23, FGFR3, GALNT3, HRAS, KL, MEN1, NT5E, PHEX, PTH, SLC2A2, SLC34A1, SLC34A3, SLC9A3R1, VDR)

ACAT2 deficiency(ABCA1, ABCG5, ABCG8, ACAT2, AGPAT2, ANGPTL3, APOA1, APOA2, APOA5, APOB, APOC2, APOC3, APOE, BSCL2, CAV1, CETP, CIDEC, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP21A2, CYP24A1, CYP27B1, DECR1, DGAT1, EPHX2, GPD1, GPIHBP1, HSD3B2, JAG1, LCAT, LDLR, LDLRAP1, LIPC, LIPE, LIPI, LMF1, LMNA, LPL, MTTP, NOTCH2, PANK2, PCSK9, PLIN1, PPARG, PSMB8, PTRF, SAR1B, SMPD1, SPTLC1, SPTLC2, USF1)

Acatalasaemia / catalase deficiency(ABCD1, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACOX1, AGPS, AMACR, CAT, CPT1A, CPT2, DNM1L, GNPAT, HADH, HADHA, HADHB, HMGCL, HSD17B10, HSD17B4, LPIN1, MFF, MLYCD, OXCT1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, SCP2, SLC22A5, SLC25A20, TAZ, TRIM37)

Aceruloplasminemia(HFE, ABCB6, ATP7A, ATP7B, CLDN16, CLDN19, CNNM2, CP, EGF, FTH1, FXYD2, HAMP, HFE2, KCNA1, SLC12A3, SLC30A10, SLC39A4, SLC40A1, TFR2, TRPM6)

Acetyl-CoA carboxylase deficiency(ABCD1, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACOX1, AGPS, AMACR, CAT, CPT1A, CPT2, DNM1L, GNPAT, HADH, HADHA, HADHB, HMGCL, HSD17B10, HSD17B4, LPIN1, MFF, MLYCD, OXCT1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, SCP2, SLC22A5, SLC25A20, TAZ, TRIM37)

Acheiropody(ARHGAP31, B4GALT7, BMPR1B, COL11A2, COL2A1, COMP, DHODH, DLX5, DOCK6, DYM, ESCO2, FBXW4, FGF10, FGFR1, FGFR2, FGFR3, FLNA, FLNB, GDF5, GLE1, GSC, HDAC8, KDM6A, KMT2D, LMBR1, LRP4, MYH3, NIPBL, NSDHL, PAX3, PITX1, POP1, PTH1R, RAD21, RBM8A, RECQL4, ROR2, SALL1, SALL4, SF3B4, SHOX, SLC26A2, SMC1A, SMC3, SMOC1, TBL1XR1, TBX15, TBX3, TBX5, TNNI2, TNNT3, TP63, TPM2, TRPV4, WDR19, WNT10B, WNT3, WNT5A, WNT7A, ZIC3)

Achondrogenesis(ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11, ANO5, ARHGAP31, ARID1A, ARID1B, ARSB, ARSE, ATP7A, B3GAT3, BMP2, BMPR1B, CANT1, CCDC8, CHST14, CHST3, CHSY1, COL10A1, COL11A1, COL11A2, COL1A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CUL7, DDR2, DHCR24, DLX3, DOCK6, DYM, EBP, EIF2AK3, EP300, EXT1, EXT2, FAM20C, FBN1, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FLNB, GALNS, GDF5, GJA1, GLB1, GNAS, GNPAT, GPC6, GPX4, GUSB, HDAC4, HOXD13, HPGD, HSPA9, HSPG2, HYAL1, IDH1, IDH2, IDS, IDUA, IFT140, IHH, IMPAD1, IRX5, KIF22, KIF7, LBR, LIFR, LRP4, LTBP2, MATN3, MGP, MMP13, MMP9, MSX2, MTAP, NAGLU, NF1, NKX3-2, NOG, NOTCH1, NPR2, NSDHL, OBSL1, PAPSS2, PCNT, PDE4D, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PIGV, POP1, PRG4, PRKAR1A, PTCH1, PTCH2, PTEN, PTH1R, PTHLH, PTPN11, RASA1, RMRP, RNU4ATAC, ROR2, RUNX2, SBDS, SEC23A, SETBP1, SH3BP2, SH3PXD2B, SHOX, SLC26A2, SLC35D1, SLC39A13, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SOST, SOX9, SUFU, TBC1D24, TBCE, TBXAS1, TGFB1, TMCO1, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TYROBP, WISP3, WNT5A, XYLT1)

Achondroplasia(ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11, ANO5, ARHGAP31, ARID1A, ARID1B, ARSB, ARSE, ATP7A, B3GAT3, BMP2, BMPR1B, CANT1, CCDC8, CHST14, CHST3, CHSY1, COL10A1, COL11A1, COL11A2, COL1A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CUL7, DDR2, DHCR24, DLX3, DOCK6, DYM, EBP, EIF2AK3, EP300, EXT1, EXT2, FAM20C, FBN1, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FLNB, GALNS, GDF5, GJA1, GLB1, GNAS, GNPAT, GPC6, GPX4, GUSB, HDAC4, HOXD13, HPGD, HSPA9, HSPG2, HYAL1, IDH1, IDH2, IDS, IDUA, IFT140, IHH, IMPAD1, IRX5, KIF22, KIF7, LBR, LIFR, LRP4, LTBP2, MATN3, MGP, MMP13, MMP9, MSX2, MTAP, NAGLU, NF1, NKX3-2, NOG, NOTCH1, NPR2, NSDHL, OBSL1, PAPSS2, PCNT, PDE4D, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PIGV, POP1, PRG4, PRKAR1A, PTCH1, PTCH2, PTEN, PTH1R, PTHLH, PTPN11, RASA1, RMRP, RNU4ATAC, ROR2, RUNX2, SBDS, SEC23A, SETBP1, SH3BP2, SH3PXD2B, SHOX, SLC26A2, SLC35D1, SLC39A13, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SOST, SOX9, SUFU, TBC1D24, TBCE, TBXAS1, TGFB1, TMCO1, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TYROBP, WISP3, WNT5A, XYLT1)

Acrocallosal syndrome(ACTB, ACTG1, ADGRG1, AHI1, AKT3, AP1S2, ARFGEF2, ARL13B, ASNS, ASPA, ASXL1, ATP6V0A2, B3GNT1, B4GAT1, B9D1, B9D2, CASK, CC2D2A, CCDC22, CCDC88C, CDON, CEP290, CEP41, COL4A1, COL4A2, CRADD, CUL4B, DAG1, DCX, DHFR, DISP1, DKC1, DLL1, DYNC1H1, EBP, EMX2, ERCC1, ERCC6, EXOSC3, FGF8, FGFR1, FGFR3, FIG4, FKRP, FKTN, FLNA, FLVCR2, FTO, GLI2, GLI3, GPHN, GPSM2, GPX4, HCCS, HEPACAM, HESX1, HYLS1, IGBP1, IL6, INPP5E, ISPD, ITPR1, KIAA1279, KIF1BP, KIF7, L1CAM, LAMA1, LAMB1, LAMC3, LARGE, MED12, MID1, MKS1, MLC1, MOCS1, MOCS2, MPDZ, MRPS16, MSX2, NDE1, NEDD4L, NFIA, NPHP1, NPHP3, OCLN, OFD1, OPHN1, OTX2, PAFAH1B1, PAX6, PEX13, PHGDH, PIEZO2, PIGA, PIK3CA, PIK3R2, PLG, PMM2, POMGNT1, POMGNT2, POMT1, POMT2, PQBP1, PRRX1, PTCH1, RAB18, RAB3GAP1, RAB3GAP2, RAI1, RARS2, RBM10, RBM8A, RELN, RNF113A, RNU4ATAC, ROGDI, RPGRIP1L, SEPSECS, SHH, SIX3, SLC12A6, SLC25A19, SMARCE1, SNAP29, SOX2, SPECC1L, SRD5A3, SRPX2, TAF1, TCTN1, TCTN2, TDGF1, TERT, TGIF1, TINF2, TMEM138, TMEM216, TMEM237, TMEM67, TRIM37, TSEN2, TSEN34, TSEN54, TTC21B, TUBA1A, TUBA8, TUBB2B, TUBB3, TUBGCP6, USP9X, VLDLR, VPS13B, VRK1, YWHAE, ZIC1, ZIC3)

Acrocallosal syndrome(ARL6, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8orf37, CC2D2A, CEP290, CEP41, DYNC2H1, EVC, EVC2, GLI3, IFT122, IFT140, IFT43, IFT80, INPP5E, KIF7, LZTFL1, MKKS, MKS1, NEK1, NPHP3, OFD1, RPGRIP1, RPGRIP1L, SDCCAG8, TCTN1, TCTN2, TMEM138, TMEM216, TMEM237, TMEM67, TRIM32, TTC21B, TTC8, WDPCP, WDR19, WDR35)

Acrocapitofemoral dysplasia(ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11, ANO5, ARHGAP31, ARID1A, ARID1B, ARSB, ARSE, ATP7A, B3GAT3, BMP2, BMPR1B, CANT1, CCDC8, CHST14, CHST3, CHSY1, COL10A1, COL11A1, COL11A2, COL1A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CUL7, DDR2, DHCR24, DLX3, DOCK6, DYM, EBP, EIF2AK3, EP300, EXT1, EXT2, FAM20C, FBN1, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FLNB, GALNS, GDF5, GJA1, GLB1, GNAS, GNPAT, GPC6, GPX4, GUSB, HDAC4, HOXD13, HPGD, HSPA9, HSPG2, HYAL1, IDH1, IDH2, IDS, IDUA, IFT140, IHH, IMPAD1, IRX5, KIF22, KIF7, LBR, LIFR, LRP4, LTBP2, MATN3, MGP, MMP13, MMP9, MSX2, MTAP, NAGLU, NF1, NKX3-2, NOG, NOTCH1, NPR2, NSDHL, OBSL1, PAPSS2, PCNT, PDE4D, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PIGV, POP1, PRG4, PRKAR1A, PTCH1, PTCH2, PTEN, PTH1R, PTHLH, PTPN11, RASA1, RMRP, RNU4ATAC, ROR2, RUNX2, SBDS, SEC23A, SETBP1, SH3BP2, SH3PXD2B, SHOX, SLC26A2, SLC35D1, SLC39A13, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SOST, SOX9, SUFU, TBC1D24, TBCE, TBXAS1, TGFB1, TMCO1, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TYROBP, WISP3, WNT5A, XYLT1)

Acrodermatitis enteropathica(ANTXR1, APCDD1, ATP7A, BCS1L, BRAF, CDH3, CDSN, CLDN1, DCAF17, DLX3, DSC3, DSG1, DSG4, DSP, EDA, EDAR, EDARADD, EDNRA, ERCC2, ERCC3, FOXN1, GJA1, GJB2, GJB6, GTF2H5, HR, JUP, KRAS, KRT14, KRT74, KRT81, KRT83, KRT85, KRT86, LIPH, LPAR6, MAP2K1, MAP2K2, MBTPS2, MPLKIP, OFD1, PKP1, PVRL1, PVRL4, RBM28, RECQL4, RIN2, RMRP, RNF113A, RPL21, SHOC2, SKIV2L, SLC39A4, SMARCA2, SPINK5, ST14, TRPS1, TTC37, TWIST2, VDR, WNT10A)

Acrodysostosis(ACTB, ACTG1, ADAMTSL2, AGA, ALX1, ALX4, ARSB, BMPER, CDC6, CDT1, CHST3, COG1, COL10A1, COL2A1, COLEC11, COMP, CREBBP, CTSA, CTSK, CYP26B1, DHODH, DLL3, EDNRA, EFNB1, EFTUD2, EP300, EVC, EVC2, FGFR1, FGFR2, FGFR3, FLNB, FREM1, FUCA1, GALNS, GDF3, GDF6, GLB1, GLI3, GNPTAB, GNPTG, GNS, GUSB, HES7, HGSNAT, HYAL1, ICK, IDS, IDUA, IFT122, IFT43, IHH, IL11RA, KAT6B, LFNG, LMNA, LMX1B, MAN2B1, MANBA, MASP1, MESP2, MSX2, MYO18B, NAGLU, NEU1, NKX3-2, NOTCH2, OFD1, ORC1, ORC4, ORC6, PDE4D, POLR1C, POLR1D, POR, PRKAR1A, RAB23, RECQL4, RMRP, RPS26, RUNX2, SBDS, SF3B4, SGSH, SKI, SLC17A5, SRCAP, SUMF1, TBX15, TBX4, TBX6, TCOF1, WDR19, WDR35, WNT5A, ZIC1)

Acromesomelic chondrodysplasia(ARHGAP31, B4GALT7, BMPR1B, COL11A2, COL2A1, COMP, DHODH, DLX5, DOCK6, DYM, ESCO2, FBXW4, FGF10, FGFR1, FGFR2, FGFR3, FLNA, FLNB, GDF5, GLE1, GSC, HDAC8, KDM6A, KMT2D, LMBR1, LRP4, MYH3, NIPBL, NSDHL, PAX3, PITX1, POP1, PTH1R, RAD21, RBM8A, RECQL4, ROR2, SALL1, SALL4, SF3B4, SHOX, SLC26A2, SMC1A, SMC3, SMOC1, TBL1XR1, TBX15, TBX3, TBX5, TNNI2, TNNT3, TP63, TPM2, TRPV4, WDR19, WNT10B, WNT3, WNT5A, WNT7A, ZIC3)

Acromicric dysplasia(ACP5, ACVR1, ADAMTS10, ADAMTS17, ADAMTSL2, AGPS, AIRE, ALG9, ALX4, ANKH, ANKRD11, ANO5, ARHGAP31, ARID1A, ARID1B, ARSB, ARSE, ATP7A, B3GAT3, BMP2, BMPR1B, CANT1, CCDC8, CHST14, CHST3, CHSY1, COL10A1, COL11A1, COL11A2, COL1A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CUL7, DDR2, DHCR24, DLX3, DOCK6, DYM, EBP, EIF2AK3, EP300, EXT1, EXT2, FAM20C, FBN1, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FLNB, GALNS, GDF5, GJA1, GLB1, GNAS, GNPAT, GPC6, GPX4, GUSB, HDAC4, HOXD13, HPGD, HSPA9, HSPG2, HYAL1, IDH1, IDH2, IDS, IDUA, IFT140, IHH, IMPAD1, IRX5, KIF22, KIF7, LBR, LIFR, LRP4, LTBP2, MATN3, MGP, MMP13, MMP9, MSX2, MTAP, NAGLU, NF1, NKX3-2, NOG, NOTCH1, NPR2, NSDHL, OBSL1, PAPSS2, PCNT, PDE4D, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PIGV, POP1, PRG4, PRKAR1A, PTCH1, PTCH2, PTEN, PTH1R, PTHLH, PTPN11, RASA1, RMRP, RNU4ATAC, ROR2, RUNX2, SBDS, SEC23A, SETBP1, SH3BP2, SH3PXD2B, SHOX, SLC26A2, SLC35D1, SLC39A13, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SOST, SOX9, SUFU, TBC1D24, TBCE, TBXAS1, TGFB1, TMCO1, TRAPPC2, TREM2, TRIP11, TRPS1, TRPV4, TYROBP, WISP3, WNT5A, XYLT1)

Action myoclonus renal failure(APRT, CC2D2A, CEP290,CLCN5, COL4A3, COL4A4, COQ2, DCDC2, GLIS2, IFT140, IFT43, INVS, IQCB1, ITGA3, LAMB2, LMX1B, NEK8, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, PDSS1, PDSS2, PLCE1, PTPRO, REN, RPGRIP1L, SCARB2, SDCCAG8, SLC26A1, SLC34A1, SLC36A2, SLC6A19, SLC6A20, SLC9A3R1, SMARCAL1, TMEM67, TRAF3IP1, TTC21B,UMOD, WDR19, WT1, XPNPEP3)

Acyl-CoA dehydrogenase long-chain deficiency(ABCD1, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACOX1, AGPS, AMACR, CAT, CPT1A, CPT2, DNM1L, GNPAT, HADH, HADHA, HADHB, HMGCL, HSD17B10, HSD17B4, LPIN1, MFF, MLYCD, OXCT1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, SCP2, SLC22A5, SLC25A20, TAZ, TRIM37)

Acyl-CoA dehydrogenase, medium chain, deficiency(ABCD1, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACOX1, AGPS, AMACR, CAT, CPT1A, CPT2, DNM1L, GNPAT, HADH, HADHA, HADHB, HMGCL, HSD17B10, HSD17B4, LPIN1, MFF, MLYCD, OXCT1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, SCP2, SLC22A5, SLC25A20, TAZ, TRIM37)

Adenine phosphoribosyltransferase deficiency(APRT, CC2D2A, CEP290,CLCN5, COL4A3, COL4A4, COQ2, DCDC2, GLIS2, IFT140, IFT43, INVS, IQCB1, ITGA3, LAMB2, LMX1B, NEK8, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, PDSS1, PDSS2, PLCE1, PTPRO, REN, RPGRIP1L, SCARB2, SDCCAG8, SLC26A1, SLC34A1, SLC36A2, SLC6A19, SLC6A20, SLC9A3R1, SMARCAL1, TMEM67, TRAF3IP1, TTC21B,UMOD, WDR19, WT1, XPNPEP3)

Adenine phosphoribosyltransferase deficiency(ADA, ADAR, ADSL, AMPD1, APRT, ATIC, DGUOK, DHODH, DPYD, DPYS, HPRT1, IFIH1, ITPA, MOCOS, NT5C3A, PNP, PRPS1, REN, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RRM2B, SAMHD1, TK2, TPMT, TREX1, TYMP, UMOD, UMPS, UPB1, XDH)

Adenosine deaminase deficiency, partial(ADA, ADAR, ADSL, AMPD1, APRT, ATIC, DGUOK, DHODH, DPYD, DPYS, HPRT1, IFIH1, ITPA, MOCOS, NT5C3A, PNP, PRPS1, REN, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RRM2B, SAMHD1, TK2, TPMT, TREX1, TYMP, UMOD, UMPS, UPB1, XDH)

Adenylosuccinase deficiency(ADA, ADAR, ADSL, AMPD1, APRT, ATIC, DGUOK, DHODH, DPYD, DPYS, HPRT1, IFIH1, ITPA, MOCOS, NT5C3A, PNP, PRPS1, REN, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RRM2B, SAMHD1, TK2, TPMT, TREX1, TYMP, UMOD, UMPS, UPB1, XDH)

Adermatoglyphia(ABCC6, ADAMTS2, ALDH18A1, ANTXR2, ATP6V0A2, ATP7A, B4GALT7, BANF1, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, ECM1, EFEMP2, ELN, ERCC4, FBLN5, FBN1, FKBP14, FLNA, GGCX, GORAB, GSN, HPGD, HRAS, LMNA, LTBP4, MMP14, PEPD, PLOD1, PYCR1, RIN2, SLC2A10, SLC39A13, SLCO2A1, SMARCAD1, TALDO1, TNXB, WRN, ZMPSTE24)

Adipose tissue disorders(AGPAT2, ALMS1, BANF1, BSCL2, CAV1, CIDEC, CREBBP, EP300, FADD, FAS, FASLG, GNAS, INPP5E, LEP, LEPR, LIPE, LMNA, MC4R, NTRK2, PCNT, PCSK1, PEPD, PHF6, PIK3R1, PLIN1, POMC, POU1F1, PPARG, PRKAR1A, PSMB8, PTRF, RAB23, RPS6KA3, SERPINA1, SIM1, TBX3, VPS13B, ZMPSTE24)

Adrenal hyperplasia(ABCA1, ABCG5, ABCG8, ACAT2, AGPAT2, ANGPTL3, APOA1, APOA2, APOA5, APOB, APOC2, APOC3, APOE, BSCL2, CAV1, CETP, CIDEC, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP21A2, CYP24A1, CYP27B1, DECR1, DGAT1, EPHX2, GPD1, GPIHBP1, HSD3B2, JAG1, LCAT, LDLR, LDLRAP1, LIPC, LIPE, LIPI, LMF1, LMNA, LPL, MTTP, NOTCH2, PANK2, PCSK9, PLIN1, PPARG, PSMB8, PTRF, SAR1B, SMPD1, SPTLC1, SPTLC2, USF1)

ADULT syndrome (Acro-dermato-ungual-lacrimaltooth syndrome)(ARHGAP31, B4GALT7, BMPR1B, COL11A2, COL2A1, COMP, DHODH, DLX5, DOCK6, DYM, ESCO2, FBXW4, FGF10, FGFR1, FGFR2, FGFR3, FLNA, FLNB, GDF5, GLE1, GSC, HDAC8, KDM6A, KMT2D, LMBR1, LRP4, MYH3, NIPBL, NSDHL, PAX3, PITX1, POP1, PTH1R, RAD21, RBM8A, RECQL4, ROR2, SALL1, SALL4, SF3B4, SHOX, SLC26A2, SMC1A, SMC3, SMOC1, TBL1XR1, TBX15, TBX3, TBX5, TNNI2, TNNT3, TP63, TPM2, TRPV4, WDR19, WNT10B, WNT3, WNT5A, WNT7A, ZIC3)

ADULT syndrome (Acro-dermato-ungual-lacrimaltooth syndrome)(AIRE, ANTXR1, ARHGAP31, ARID1A, ARID1B, ATP2A2, ATP2C1, CDAN1, CDH3, COL17A1, COL7A1, CTC1, CTSC, DKC1, DLX3, DOCK6, DSP, DST, EDA, EDAR, ERCC2, ERCC3, EVC, EVC2, EXT1, EZH2, FERMT1, FIG4, FOXN1, FZD6, GJA1, GJB2, GJB6, GLI3, GTF2H5, IFT122, IFT43, IKBKG, IRF6, ITGB4, KRT14, KRT16, KRT17, KRT5, KRT6A, KRT6B, KRT6C, KRT81, KRT83, KRT85, KRT86, LAMA3, LAMB3, LAMC2, LMX1B, LRP4, MBTPS2, MSX1, NHP2, NLRP1, NOP10, NOTCH1, PIGO, PKP1, PLCD1, PLEC, PORCN, PVRL1, RECQL4, RIPK4, ROR2, RSPO4, SETBP1, SMARCA2, SMARCA4, SMARCB1, SOST, STAT1, TBC1D24, TBX3, TERC, TERT, TINF2, TP63, TRPS1, TRPV3, USB1, WDR19, WNT10A, WRAP53)

Agenesis of the corpus callosum(ACTB, ACTG1, ADGRG1, AHI1, AKT3, AP1S2, ARFGEF2, ARL13B, ASNS, ASPA, ASXL1, ATP6V0A2, B3GNT1, B4GAT1, B9D1, B9D2, CASK, CC2D2A, CCDC22, CCDC88C, CDON, CEP290, CEP41, COL4A1, COL4A2, CRADD, CUL4B, DAG1, DCX, DHFR, DISP1, DKC1, DLL1, DYNC1H1, EBP, EMX2, ERCC1, ERCC6, EXOSC3, FGF8, FGFR1, FGFR3, FIG4, FKRP, FKTN, FLNA, FLVCR2, FTO, GLI2, GLI3, GPHN, GPSM2, GPX4, HCCS, HEPACAM, HESX1, HYLS1, IGBP1, IL6, INPP5E, ISPD, ITPR1, KIAA1279, KIF1BP, KIF7, L1CAM, LAMA1, LAMB1, LAMC3, LARGE, MED12, MID1, MKS1, MLC1, MOCS1, MOCS2, MPDZ, MRPS16, MSX2, NDE1, NEDD4L, NFIA, NPHP1, NPHP3, OCLN, OFD1, OPHN1, OTX2, PAFAH1B1, PAX6, PEX13, PHGDH, PIEZO2, PIGA, PIK3CA, PIK3R2, PLG, PMM2, POMGNT1, POMGNT2, POMT1, POMT2, PQBP1, PRRX1, PTCH1, RAB18, RAB3GAP1, RAB3GAP2, RAI1, RARS2, RBM10, RBM8A, RELN, RNF113A, RNU4ATAC, ROGDI, RPGRIP1L, SEPSECS, SHH, SIX3, SLC12A6, SLC25A19, SMARCE1, SNAP29, SOX2, SPECC1L, SRD5A3, SRPX2, TAF1, TCTN1, TCTN2, TDGF1, TERT, TGIF1, TINF2, TMEM138, TMEM216, TMEM237, TMEM67, TRIM37, TSEN2, TSEN34, TSEN54, TTC21B, TUBA1A, TUBA8, TUBB2B, TUBB3, TUBGCP6, USP9X, VLDLR, VPS13B, VRK1, YWHAE, ZIC1, ZIC3)

Aicardi-goutieres syndrome(ABCD4, ACTB, ADAR, AIMP1, AKT3, ALG12, ALG3, AP3B1, AP4E1, AP4M1, ARFGEF2, ARG1, ARID1A, ARID1B, ASNS, ASPM, ATP1A3, ATP6V0A2, ATR, ATRX, AUTS2, BCAP31, BCL11A, BCOR, BRAT1, BUB1B, CASK, CDC6, CDK5RAP2, CDKL5, CDT1, CENPJ, CEP135, CEP152, CEP63, COG7, CTNNB1, CTSD, CYB5R3, DEAF1, DHCR24, DHCR7, DIAPH1, DLD, DNM1L, DOCK6, DPM1, DPP6, DPYD, DYNC1H1, DYRK1A, EFTUD2, EMG1, EP300, ERCC1, ERCC2, ERCC4, ERCC5, ERCC6, ERCC8, ESCO2, EXOSC3, FKTN, FREM1, GLI2, GLYCTK, GNPAT, IER3IP1, IFIH1, IGF1R, IQSEC2, KARS, KAT6B, KDM5C, KIAA1279, KIF11, KMT2D, KNL1, LIG4, LINS1, LMBRD1, MBTPS2, MCM4, MCPH1, MECP2, MED17, MFSD2A, MID1, MMACHC, MMADHC, MOCS2, MRE11, MRPS22, MSMO1, MTHFR, MTR, MTRR, NBN, NDE1, NHEJ1, NIPBL, NR2E1, NSDHL, NSUN2, OCLN, ORC1, ORC4, ORC6, PAFAH1B1, PAH, PAK3, PAX6, PCDH15, PCNT, PDHA1, PDX1, PHF6, PHGDH, PIEZO2, PNKP, PNPO, POMGNT1, POMT1, POMT2, PQBP1, PTCH1, PTPRT, PUS1, RAB18, RAB3GAP1, RAB3GAP2, RAD21, RARS2, RBBP8, RNASEH2A, RNASEH2B, RNASEH2C, RNU4ATAC, RPL10, RPS6KA3, SAMHD1, SEPSECS, SHH, SIX3, SLC16A2, SLC25A19, SLC2A1, SLC6A8, SLC9A6, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SNX3, SPR, STIL, SYNGAP1, TAF2, TCF4, TMEM165, TRAPPC9, TREX1, TSEN54, TUBA1A, TUBB2B, TUBB3, TUBGCP4, TUBGCP6, UBE3A, VPS13B, VRK1, WDR62, WHSC1, WWOX, XPA, XRCC4, ZBTB16, ZEB2, ZNF335)

Aicardi-Goutieres syndrome(ADA, ADAR, ADSL, AMPD1, APRT, ATIC, DGUOK, DHODH, DPYD, DPYS, HPRT1, IFIH1, ITPA, MOCOS, NT5C3A, PNP, PRPS1, REN, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RRM2B, SAMHD1, TK2, TPMT, TREX1, TYMP, UMOD, UMPS, UPB1, XDH)

Aicardi-Goutières Syndrome(AARS2, ABCD1, ACOX1, ADAR, AIMP1, APP, ARSA, ASPA, CLCN2, COX10, COX15, CSF1R, CTC1, CYP27A1, DARS2, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC8, FA2H, FAM126A, FOLR1, FOXRED1, GALC, GFAP, HEPACAM, HSD17B4, HSPD1, HTRA1, IFIH1, LAMB1, LMNB1, MLC1, MPV17, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NOTCH3, NUBPL, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PLP1, POLR1C, POLR3A, POLR3B, PSAP, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SCP2, SDHA, SLC16A2, SOX10, SUMF1, SURF1, TREM2, TREX1, TYMP, TYROBP)

AICA-ribosiduria due to ATIC deficiency(ADA, ADAR, ADSL, AMPD1, APRT, ATIC, DGUOK, DHODH, DPYD, DPYS, HPRT1, IFIH1, ITPA, MOCOS, NT5C3A, PNP, PRPS1, REN, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RRM2B, SAMHD1, TK2, TPMT, TREX1, TYMP, UMOD, UMPS, UPB1, XDH)

Alagille syndrome(ABCA1, ABCG5, ABCG8, ACAT2, AGPAT2, ANGPTL3, APOA1, APOA2, APOA5, APOB, APOC2, APOC3, APOE, BSCL2, CAV1, CETP, CIDEC, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP21A2, CYP24A1, CYP27B1, DECR1, DGAT1, EPHX2, GPD1, GPIHBP1, HSD3B2, JAG1, LCAT, LDLR, LDLRAP1, LIPC, LIPE, LIPI, LMF1, LMNA, LPL, MTTP, NOTCH2, PANK2, PCSK9, PLIN1, PPARG, PSMB8, PTRF, SAR1B, SMPD1, SPTLC1, SPTLC2, USF1)

Albinism, oculocutaneous(ABCB6, ADAM10, ADAR, AP3B1, BLOC1S6, C10orf11, DKC1, DTNBP1, EDN3, EDNRB, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, IKBKG, KIT, KITLG, KRT14, KRT5, LYST, MITF, MLPH, MYO5A, NHP2, NLRP1, NOP10, OCA2, PAX3, RAB27A, SLC24A5, SLC45A2, SNAI2, SOX10, STK11, TERT, TINF2, TYR, TYRP1, WRAP53)

Albright hereditary osteodystrophy(AGPAT2, ALMS1, BANF1, BSCL2, CAV1, CIDEC, CREBBP, EP300, FADD, FAS, FASLG, GNAS, INPP5E, LEP, LEPR, LIPE, LMNA, MC4R, NTRK2, PCNT, PCSK1, PEPD, PHF6, PIK3R1, PLIN1, POMC, POU1F1, PPARG, PRKAR1A, PSMB8, PTRF, RAB23, RPS6KA3, SERPINA1, SIM1, TBX3, VPS13B, ZMPSTE24)

Alexander disease(AARS2, ABCD1, ACOX1, ADAR, AIMP1, APP, ARSA, ASPA, CLCN2, COX10, COX15, CSF1R, CTC1, CYP27A1, DARS2, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC8, FA2H, FAM126A, FOLR1, FOXRED1, GALC, GFAP, HEPACAM, HSD17B4, HSPD1, HTRA1, IFIH1, LAMB1, LMNB1, MLC1, MPV17, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NOTCH3, NUBPL, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PLP1, POLR1C, POLR3A, POLR3B, PSAP, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SCP2, SDHA, SLC16A2, SOX10, SUMF1, SURF1, TREM2, TREX1, TYMP, TYROBP)

Alkaptonuria(AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, ALDH6A1, AMT, ARG1, ASL, ASNS, ASPA, ASS1, AUH, BCKDHA, BCKDHB, BOLA3, CBS, CD320, CPS1, CTH, D2HGDH, DBT, DMGDH, DNAJC19, ETFA, ETFB, ETFDH, FAH, FMO3, FTCD, GCDH, GCH1, GCLC, GCSH, GLDC, GLUD1, GLUL, GLYCTK, GNMT, GSS, HAL, HGD, HIBCH, HMGCL, HPD, HSD17B10, HTRA2, IDH2, IVD, KYNU, L2HGDH, LIAS, LMBRD1, MAT1A, MCCC1, MCCC2, MCEE, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, NAGS, OAT, OCRL, OPA3, OTC, PAH, PCBD1, PCCA, PCCB, PEPD, PHGDH, PRODH, PSAT1, PSPH, PTS, PYCR1, QDPR, SARDH, SLC1A1, SLC25A13, SLC25A15, SLC36A2, SLC3A1, SLC6A19, SLC6A20, SLC7A7, SLC7A9, SUCLA2, SUCLG1, SUGCT, SUOX, TAT, TAZ, UROC1)

Allan-Herndon-Dudley syndrome(ACSL4, ADNP, AFF2, AGTR2, AHI1, ANK3, ANKRD11, AP1S1, AP1S2, AP3B2, ARFGEF2, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARL13B, ATP10A, ATP6AP2, ATP7A, ATP8A2, ATP13A2, ATRX, AUTS2, BCAP31, BCL11A, BCOR, BRWD3, C12orf57, CA8, CACNA1A, CACNG2, CAMTA1, CASK, CBS, CC2D1A, CC2D2A, CCDC22, CDH15, CDKL5, CEP290, CEP41, CHD2, CHKB, CIC, CLIC2, CLN3, CLN5, CLN6, CLN8, CNNM2, CNTNAP2, CRADD, CRBN, CREBBP, CTNNB1, CTSD, CUL4B, DCAF17, DCX, DEAF1, DIP2B, DLG3, DMD, DNAJC5, DNM1, DNMT3A, DOCK8, DPP6, DYNC1H1, DYRK1A, EFHC2, EFTUD2, EHMT1, ELK1, ELOVL4, ELP2, ENTPD1, EP300, EPB41L1, ESCO2, FGD1, FGFR2, FKRP, FKTN, FLNA, FMN2, FMR1, FOXP1, FRMPD4, FTSJ1, GAMT, GATM, GDI1, GFAP, GNB5, GPC3, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRM1, GRN, HDAC4, HDAC8, HEPACAM, HNRNPU, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IGF1, IL1RAPL1, INPP5E, IQSEC2, IRX5, ISPD, ITPR1, KAT6B, KCNJ10, KCNK9, KCTD7, KDM5C, KIAA1033, KIAA2022, KIF11, KIF1A, KIF7, KIRREL3, L1CAM, LAMA1, LAMP2, LARGE, LINS, MAGT1, MAN1B1, MAOA, MBD5, MBTPS2, MCPH1, MECP2, MED12, MED13L, MED23, MEF2C, MFSD8, MGAT2, MTHFR, MYT1L, NDP, NDST1, NIPBL, NLGN4X, NR2F1, NRXN1, NSD1, NSDHL, NSUN2, NXF5, OCRL, OFD1, OMG, OPHN1, OTC, PAFAH1B1, PAK3, PAX6, PCDH19, PDHA1, PDHX, PEX11B, PEX7, PGK1, PHF6, PHF8, PIGL, PIGO, PIGV, PLP1, POGZ, POLG, POMGNT1, POMT1, POMT2, PORCN, POU1F1, PPM1D, PPP2R1A, PPT1, PQBP1, PRMT7, PRPS1, PRSS12, PTCHD1, RAB39B, RAB3GAP2, RAB40AL, RAD21, RBBP8, RPGRIP1L, RPS6KA3, SATB2, SETBP1, SHROOM4, SIL1, SLC16A1, SLC16A2, SLC2A1, SLC4A4, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, SMC3, SMS, SOBP, SOX3, SOX5, SPTAN1, SRD5A3, SRPX2, ST3GAL3, STXBP1, SYNGAP1, SYP, TAF2, TBC1D24, TBCE, TBL1XR1, TCF4, TCTN1, TCTN2, TECR, TMCO1, TMEM138, TMEM216, TMEM237, TMEM67, TPP1, TRAPPC9, TRIO, TSPAN7, TTC21B, TTI2, TUBA1A, TUSC3, UBE2A, UBE3A, UPF3B, USP9X, VLDLR, WDR81, WWOX, ZBTB16, ZCCHC12, ZDHHC15, ZDHHC9, ZEB2, ZMYND11, ZNF41, ZNF674, ZNF711, ZNF81)

Alopecia universalis congenital(ANTXR1, APCDD1, ATP7A, BCS1L, BRAF, CDH3, CDSN, CLDN1, DCAF17, DLX3, DSC3, DSG1, DSG4, DSP, EDA, EDAR, EDARADD, EDNRA, ERCC2, ERCC3, FOXN1, GJA1, GJB2, GJB6, GTF2H5, HR, JUP, KRAS, KRT14, KRT74, KRT81, KRT83, KRT85, KRT86, LIPH, LPAR6, MAP2K1, MAP2K2, MBTPS2, MPLKIP, OFD1, PKP1, PVRL1, PVRL4, RBM28, RECQL4, RIN2, RMRP, RNF113A, RPL21, SHOC2, SKIV2L, SLC39A4, SMARCA2, SPINK5, ST14, TRPS1, TTC37, TWIST2, VDR, WNT10A)

Alpha thalassemia X-linked intellectual disability syndrome(ABCB7, ALAD, ALAS2, ANK1, ATRX, CPOX, CYB5A, CYB5R3, CYCS, EPB42, FECH, FTH1, GATA1, HAMP, HBB, HBD, HBG1, HBG2, HFE, HFE2, HMBS, HMOX1, HSPA9, PPOX, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, SLC25A38, SLC40A1, SLC4A1, SPTA1, SPTB, TFR2, TMPRSS6, UROD, UROS)

Alpha-1-antitrypsin deficiency(AGPAT2, ALMS1, BANF1, BSCL2, CAV1, CIDEC, CREBBP, EP300, FADD, FAS, FASLG, GNAS, INPP5E, LEP, LEPR, LIPE, LMNA, MC4R, NTRK2, PCNT, PCSK1, PEPD, PHF6, PIK3R1, PLIN1, POMC, POU1F1, PPARG, PRKAR1A, PSMB8, PTRF, RAB23, RPS6KA3, SERPINA1, SIM1, TBX3, VPS13B, ZMPSTE24)

Alpha-dystroglycanopathy(ANO5, ASAH1, ASCC1, ATP7A, B3GNT1, BAG3, BIN1, BSCL2, CAPN3, CAV3, CHKB, CLCN1, COL12A1, COL6A1, COL6A2, COL6A3, COQ2, DAG1, DES, DMD, DNAJB2, DNAJB6, DPM1, DPM3, DYNC1H1, DYSF, EMD, FHL1, FKRP, FKTN, GAA, GARS, GJB1, HSPB8, IGHMBP2, ISPD, ITGA7, LAMA2, LAMP2, LARGE, LMNA, MPZ, MYH7, MYOT, PABPN1, PHKA1, PLEC, PLEKHG5, POMGNT1, POMGNT2, POMT1, POMT2, PSMB8, PYGM, REEP1, SCN4A, SEPN1, SGCA, SGCB, SGCD, SGCG, SIGMAR1, SLC16A2, SLC52A3, SLC5A7, SNCA, SYNE1, SYNE2, TCAP, TMEM43, TRIM32, TRPV4, TTN, UBA1, VAPB, VRK1)

Alpha-methylacetoacetic aciduria(AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, ALDH6A1, AMT, ARG1, ASL, ASNS, ASPA, ASS1, AUH, BCKDHA, BCKDHB, BOLA3, CBS, CD320, CPS1, CTH, D2HGDH, DBT, DMGDH, DNAJC19, ETFA, ETFB, ETFDH, FAH, FMO3, FTCD, GCDH, GCH1, GCLC, GCSH, GLDC, GLUD1, GLUL, GLYCTK, GNMT, GSS, HAL, HGD, HIBCH, HMGCL, HPD, HSD17B10, HTRA2, IDH2, IVD, KYNU, L2HGDH, LIAS, LMBRD1, MAT1A, MCCC1, MCCC2, MCEE, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, NAGS, OAT, OCRL, OPA3, OTC, PAH, PCBD1, PCCA, PCCB, PEPD, PHGDH, PRODH, PSAT1, PSPH, PTS, PYCR1, QDPR, SARDH, SLC1A1, SLC25A13, SLC25A15, SLC36A2, SLC3A1, SLC6A19, SLC6A20, SLC7A7, SLC7A9, SUCLA2, SUCLG1, SUGCT, SUOX, TAT, TAZ, UROC1)

Alpha-methylacetoacetic aciduria(AARS2, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, AGK, AIFM1, AMACR, ATP5E, ATPAF2, BCS1L, BTD, C12orf65, COA5, COQ2, COQ4, COQ6, COQ8A, COQ9, COX10, COX15, COX6B1, CPT1A, CPT2, DARS2, DGUOK, DLAT, DLD, EARS2, ELAC2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FH, FOXRED1, GCDH, GFM1, HADH, HADHA, HADHB, HCCS, HIBCH, HMGCL, HMGCS2, HSD17B10, ISCU, LIAS, LRPPRC, MARS2, MLYCD, MPV17, MRPL3, MRPS16, MRPS22, MTFMT, MTO1, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NUBPL, OPA1, OXCT1, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PKLR, POLG, POLG2, PUS1, RARS2, RRM2B, SCO1, SCO2, SDHA, SLC19A3, SLC22A5, SLC25A19, SLC25A20, SLC25A4, SUCLA2, SUCLG1, SUGCT, SURF1, TACO1, TFAM, TK2, TMEM70, TPK1, TRMU, TSFM, TTC19, TUFM, TWNK, TXN2, TYMP, UQCRB, UQCRQ, YARS2)

Alpha-methylacyl-CoA racemase deficiency(ABCD1, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACOX1, AGPS, AMACR, CAT, CPT1A, CPT2, DNM1L, GNPAT, HADH, HADHA, HADHB, HMGCL, HSD17B10, HSD17B4, LPIN1, MFF, MLYCD, OXCT1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, SCP2, SLC22A5, SLC25A20, TAZ, TRIM37)

Alport syndrome(COL4A3, COL4A4, COL4A5, MYH9)

Alström syndrome(AGPAT2, ALMS1, BANF1, BSCL2, CAV1, CIDEC, CREBBP, EP300, FADD, FAS, FASLG, GNAS, INPP5E, LEP, LEPR, LIPE, LMNA, MC4R, NTRK2, PCNT, PCSK1, PEPD, PHF6, PIK3R1, PLIN1, POMC, POU1F1, PPARG, PRKAR1A, PSMB8, PTRF, RAB23, RPS6KA3, SERPINA1, SIM1, TBX3, VPS13B, ZMPSTE24)

Amyloidosis, Finnish type(ALDH18A1, ATP6V0A2, ATP7A, BLM, EFEMP2, ELN, FBLN5, GGCX, GORAB, GSN, HRAS, LMNA, LTBP4, PYCR1, RIN2, SLC2A10, TALDO1, WRN, ZMPSTE24)

Amyloidotic polyneuropathy(AARS, ABCD1, ABHD12, AIFM1, ALDH18A1, AP1S1, ARHGEF10, ATL1, ATP7A, BSCL2, C10orf2, CCT5, CD59, CSGALNACT1, CTDP1, DCTN1, DFNB59, DHH, DIAPH3, DNAJB2, DNM2, DNMT1, DST, DYNC1H1, EGR2, FAM134B, FBLN5, FGD4, FIG4, GAN, GARS, GBA, GDAP1, GJB1, GJB3, GLA, GSN, HADHA, HADHB, HARS, HK1, HOXD10, HSPB1, HSPB3, HSPB8, IFRD1, IGHMBP2, IKBKAP, INF2, KARS, KIF1A, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MED25, MFN2, MME, MPZ, MTMR2, MYH14, NAGLU, NDRG1, NEFH, NEFL, NGF, NTRK1, OPA1, OTOF, PHYH, PLEKHG5, PMP22, PNPLA6, POLG, PRPS1, PRX, RAB7A, REEP1, RPIA, SACS, SBF2, SCN10A, SCN9A, SCP2, SEPT9, SETX, SH3TC2, SIGMAR1, SLC12A6, SLC25A19, SLC5A7, SNAP29, SOX10, SPG11, SPTLC1, SPTLC2, SURF1, SYT2, TDP1, TMEM126A, TRPV4, TTR, TYMP, VCP, VRK1, WNK1, YARS)

Amyotrophic lateral sclerosis(ALS2, ANG, APEX1, CHMP2B, DAO, DCTN1, ERBB4, FIG4, FUS, GLE1, GRN, MATR3, NEFH, OPTN, PFN1, PON1, PON2, PRPH, PSEN1, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, TAF15, TARDBP, TBK1, UBQLN2, VAPB, VCP)

Anauxetic dysplasia(ARHGAP31, B4GALT7, BMPR1B, COL11A2, COL2A1, COMP, DHODH, DLX5, DOCK6, DYM, ESCO2, FBXW4, FGF10, FGFR1, FGFR2, FGFR3, FLNA, FLNB, GDF5, GLE1, GSC, HDAC8, KDM6A, KMT2D, LMBR1, LRP4, MYH3, NIPBL, NSDHL, PAX3, PITX1, POP1, PTH1R, RAD21, RBM8A, RECQL4, ROR2, SALL1, SALL4, SF3B4, SHOX, SLC26A2, SMC1A, SMC3, SMOC1, TBL1XR1, TBX15, TBX3, TBX5, TNNI2, TNNT3, TP63, TPM2, TRPV4, WDR19, WNT10B, WNT3, WNT5A, WNT7A, ZIC3)

Andermann syndrome(AARS, ABCD1, ABHD12, AIFM1, ALDH18A1, AP1S1, ARHGEF10, ATL1, ATP7A, BSCL2, C10orf2, CCT5, CD59, CSGALNACT1, CTDP1, DCTN1, DFNB59, DHH, DIAPH3, DNAJB2, DNM2, DNMT1, DST, DYNC1H1, EGR2, FAM134B, FBLN5, FGD4, FIG4, GAN, GARS, GBA, GDAP1, GJB1, GJB3, GLA, GSN, HADHA, HADHB, HARS, HK1, HOXD10, HSPB1, HSPB3, HSPB8, IFRD1, IGHMBP2, IKBKAP, INF2, KARS, KIF1A, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MED25, MFN2, MME, MPZ, MTMR2, MYH14, NAGLU, NDRG1, NEFH, NEFL, NGF, NTRK1, OPA1, OTOF, PHYH, PLEKHG5, PMP22, PNPLA6, POLG, PRPS1, PRX, RAB7A, REEP1, RPIA, SACS, SBF2, SCN10A, SCN9A, SCP2, SEPT9, SETX, SH3TC2, SIGMAR1, SLC12A6, SLC25A19, SLC5A7, SNAP29, SOX10, SPG11, SPTLC1, SPTLC2, SURF1, SYT2, TDP1, TMEM126A, TRPV4, TTR, TYMP, VCP, VRK1, WNK1, YARS)

Andermann syndrome(ACTB, ACTG1, ADGRG1, AHI1, AKT3, AP1S2, ARFGEF2, ARL13B, ASNS, ASPA, ASXL1, ATP6V0A2, B3GNT1, B4GAT1, B9D1, B9D2, CASK, CC2D2A, CCDC22, CCDC88C, CDON, CEP290, CEP41, COL4A1, COL4A2, CRADD, CUL4B, DAG1, DCX, DHFR, DISP1, DKC1, DLL1, DYNC1H1, EBP, EMX2, ERCC1, ERCC6, EXOSC3, FGF8, FGFR1, FGFR3, FIG4, FKRP, FKTN, FLNA, FLVCR2, FTO, GLI2, GLI3, GPHN, GPSM2, GPX4, HCCS, HEPACAM, HESX1, HYLS1, IGBP1, IL6, INPP5E, ISPD, ITPR1, KIAA1279, KIF1BP, KIF7, L1CAM, LAMA1, LAMB1, LAMC3, LARGE, MED12, MID1, MKS1, MLC1, MOCS1, MOCS2, MPDZ, MRPS16, MSX2, NDE1, NEDD4L, NFIA, NPHP1, NPHP3, OCLN, OFD1, OPHN1, OTX2, PAFAH1B1, PAX6, PEX13, PHGDH, PIEZO2, PIGA, PIK3CA, PIK3R2, PLG, PMM2, POMGNT1, POMGNT2, POMT1, POMT2, PQBP1, PRRX1, PTCH1, RAB18, RAB3GAP1, RAB3GAP2, RAI1, RARS2, RBM10, RBM8A, RELN, RNF113A, RNU4ATAC, ROGDI, RPGRIP1L, SEPSECS, SHH, SIX3, SLC12A6, SLC25A19, SMARCE1, SNAP29, SOX2, SPECC1L, SRD5A3, SRPX2, TAF1, TCTN1, TCTN2, TDGF1, TERT, TGIF1, TINF2, TMEM138, TMEM216, TMEM237, TMEM67, TRIM37, TSEN2, TSEN34, TSEN54, TTC21B, TUBA1A, TUBA8, TUBB2B, TUBB3, TUBGCP6, USP9X, VLDLR, VPS13B, VRK1, YWHAE, ZIC1, ZIC3)

Andersen-Tawil syndrome(ABCC9, ACTC1, AKAP9, ANK2, ANK3, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CASQ2, CAV3, DES, DSC2, DSG2, DSP, EMD, GATA4, GJA5, GLA, GPD1L, JUP, KCNA5, KCND3, KCNE1, KCNE1L, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LAMP2, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, NKX2-5, NPPA, NUP155, PKP2, PRKAG2, RANGRF, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SNTA1, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRPM4, TTR)

Angelman syndrome(ACSL4, ADNP, AFF2, AGTR2, AHI1, ANK3, ANKRD11, AP1S1, AP1S2, AP3B2, ARFGEF2, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARL13B, ATP10A, ATP6AP2, ATP7A, ATP8A2, ATP13A2, ATRX, AUTS2, BCAP31, BCL11A, BCOR, BRWD3, C12orf57, CA8, CACNA1A, CACNG2, CAMTA1, CASK, CBS, CC2D1A, CC2D2A, CCDC22, CDH15, CDKL5, CEP290, CEP41, CHD2, CHKB, CIC, CLIC2, CLN3, CLN5, CLN6, CLN8, CNNM2, CNTNAP2, CRADD, CRBN, CREBBP, CTNNB1, CTSD, CUL4B, DCAF17, DCX, DEAF1, DIP2B, DLG3, DMD, DNAJC5, DNM1, DNMT3A, DOCK8, DPP6, DYNC1H1, DYRK1A, EFHC2, EFTUD2, EHMT1, ELK1, ELOVL4, ELP2, ENTPD1, EP300, EPB41L1, ESCO2, FGD1, FGFR2, FKRP, FKTN, FLNA, FMN2, FMR1, FOXP1, FRMPD4, FTSJ1, GAMT, GATM, GDI1, GFAP, GNB5, GPC3, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRM1, GRN, HDAC4, HDAC8, HEPACAM, HNRNPU, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IGF1, IL1RAPL1, INPP5E, IQSEC2, IRX5, ISPD, ITPR1, KAT6B, KCNJ10, KCNK9, KCTD7, KDM5C, KIAA1033, KIAA2022, KIF11, KIF1A, KIF7, KIRREL3, L1CAM, LAMA1, LAMP2, LARGE, LINS, MAGT1, MAN1B1, MAOA, MBD5, MBTPS2, MCPH1, MECP2, MED12, MED13L, MED23, MEF2C, MFSD8, MGAT2, MTHFR, MYT1L, NDP, NDST1, NIPBL, NLGN4X, NR2F1, NRXN1, NSD1, NSDHL, NSUN2, NXF5, OCRL, OFD1, OMG, OPHN1, OTC, PAFAH1B1, PAK3, PAX6, PCDH19, PDHA1, PDHX, PEX11B, PEX7, PGK1, PHF6, PHF8, PIGL, PIGO, PIGV, PLP1, POGZ, POLG, POMGNT1, POMT1, POMT2, PORCN, POU1F1, PPM1D, PPP2R1A, PPT1, PQBP1, PRMT7, PRPS1, PRSS12, PTCHD1, RAB39B, RAB3GAP2, RAB40AL, RAD21, RBBP8, RPGRIP1L, RPS6KA3, SATB2, SETBP1, SHROOM4, SIL1, SLC16A1, SLC16A2, SLC2A1, SLC4A4, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, SMC3, SMS, SOBP, SOX3, SOX5, SPTAN1, SRD5A3, SRPX2, ST3GAL3, STXBP1, SYNGAP1, SYP, TAF2, TBC1D24, TBCE, TBL1XR1, TCF4, TCTN1, TCTN2, TECR, TMCO1, TMEM138, TMEM216, TMEM237, TMEM67, TPP1, TRAPPC9, TRIO, TSPAN7, TTC21B, TTI2, TUBA1A, TUSC3, UBE2A, UBE3A, UPF3B, USP9X, VLDLR, WDR81, WWOX, ZBTB16, ZCCHC12, ZDHHC15, ZDHHC9, ZEB2, ZMYND11, ZNF41, ZNF674, ZNF711, ZNF81)

Angioedema, hereditary(ACVRL1, CCBE1, CCM2, ENG, F12, FLT4, GATA2, GLMN, HRAS, KRIT1, PDCD10, PTEN, PTPN11, PTPN14, RASA1, SERPING1, TEK)

Ankyloblepharon-ectodermal defects-cleft lip and palate syndrome(AIRE, ANTXR1, ARHGAP31, ARID1A, ARID1B, ATP2A2, ATP2C1, CDAN1, CDH3, COL17A1, COL7A1, CTC1, CTSC, DKC1, DLX3, DOCK6, DSP, DST, EDA, EDAR, ERCC2, ERCC3, EVC, EVC2, EXT1, EZH2, FERMT1, FIG4, FOXN1, FZD6, GJA1, GJB2, GJB6, GLI3, GTF2H5, IFT122, IFT43, IKBKG, IRF6, ITGB4, KRT14, KRT16, KRT17, KRT5, KRT6A, KRT6B, KRT6C, KRT81, KRT83, KRT85, KRT86, LAMA3, LAMB3, LAMC2, LMX1B, LRP4, MBTPS2, MSX1, NHP2, NLRP1, NOP10, NOTCH1, PIGO, PKP1, PLCD1, PLEC, PORCN, PVRL1, RECQL4, RIPK4, ROR2, RSPO4, SETBP1, SMARCA2, SMARCA4, SMARCB1, SOST, STAT1, TBC1D24, TBX3, TERC, TERT, TINF2, TP63, TRPS1, TRPV3, USB1, WDR19, WNT10A, WRAP53)

Antley-Bixler syndrome(ABCB11, ABCB4, ABCD3, AKR1D1, AMACR, ATP8B1, BAAT, CYP27A1, CYP7B1, DHCR24, DHCR7, EBP, FGFR2, HSD3B7, LBR, MSMO1, MVK, NR1H4, NSDHL, POR, SC5D, SLC10A2, STS, TJP2, UGT1A1)

Antley-Bixler syndrome(ACTB, ACTG1, ADAMTSL2, AGA, ALX1, ALX4, ARSB, BMPER, CDC6, CDT1, CHST3, COG1, COL10A1, COL2A1, COLEC11, COMP, CREBBP, CTSA, CTSK, CYP26B1, DHODH, DLL3, EDNRA, EFNB1, EFTUD2, EP300, EVC, EVC2, FGFR1, FGFR2, FGFR3, FLNB, FREM1, FUCA1, GALNS, GDF3, GDF6, GLB1, GLI3, GNPTAB, GNPTG, GNS, GUSB, HES7, HGSNAT, HYAL1, ICK, IDS, IDUA, IFT122, IFT43, IHH, IL11RA, KAT6B, LFNG, LMNA, LMX1B, MAN2B1, MANBA, MASP1, MESP2, MSX2, MYO18B, NAGLU, NEU1, NKX3-2, NOTCH2, OFD1, ORC1, ORC4, ORC6, PDE4D, POLR1C, POLR1D, POR, PRKAR1A, RAB23, RECQL4, RMRP, RPS26, RUNX2, SBDS, SF3B4, SGSH, SKI, SLC17A5, SRCAP, SUMF1, TBX15, TBX4, TBX6, TCOF1, WDR19, WDR35, WNT5A, ZIC1)

Apert syndrome(ACTB, ACTG1, ADAMTSL2, AGA, ALX1, ALX4, ARSB, BMPER, CDC6, CDT1, CHST3, COG1, COL10A1, COL2A1, COLEC11, COMP, CREBBP, CTSA, CTSK, CYP26B1, DHODH, DLL3, EDNRA, EFNB1, EFTUD2, EP300, EVC, EVC2, FGFR1, FGFR2, FGFR3, FLNB, FREM1, FUCA1, GALNS, GDF3, GDF6, GLB1, GLI3, GNPTAB, GNPTG, GNS, GUSB, HES7, HGSNAT, HYAL1, ICK, IDS, IDUA, IFT122, IFT43, IHH, IL11RA, KAT6B, LFNG, LMNA, LMX1B, MAN2B1, MANBA, MASP1, MESP2, MSX2, MYO18B, NAGLU, NEU1, NKX3-2, NOTCH2, OFD1, ORC1, ORC4, ORC6, PDE4D, POLR1C, POLR1D, POR, PRKAR1A, RAB23, RECQL4, RMRP, RPS26, RUNX2, SBDS, SF3B4, SGSH, SKI, SLC17A5, SRCAP, SUMF1, TBX15, TBX4, TBX6, TCOF1, WDR19, WDR35, WNT5A, ZIC1)

Argininemia(AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, ALDH6A1, AMT, ARG1, ASL, ASNS, ASPA, ASS1, AUH, BCKDHA, BCKDHB, BOLA3, CBS, CD320, CPS1, CTH, D2HGDH, DBT, DMGDH, DNAJC19, ETFA, ETFB, ETFDH, FAH, FMO3, FTCD, GCDH, GCH1, GCLC, GCSH, GLDC, GLUD1, GLUL, GLYCTK, GNMT, GSS, HAL, HGD, HIBCH, HMGCL, HPD, HSD17B10, HTRA2, IDH2, IVD, KYNU, L2HGDH, LIAS, LMBRD1, MAT1A, MCCC1, MCCC2, MCEE, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, NAGS, OAT, OCRL, OPA3, OTC, PAH, PCBD1, PCCA, PCCB, PEPD, PHGDH, PRODH, PSAT1, PSPH, PTS, PYCR1, QDPR, SARDH, SLC1A1, SLC25A13, SLC25A15, SLC36A2, SLC3A1, SLC6A19, SLC6A20, SLC7A7, SLC7A9, SUCLA2, SUCLG1, SUGCT, SUOX, TAT, TAZ, UROC1)

Argininosuccinic aciduria(AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, ALDH6A1, AMT, ARG1, ASL, ASNS, ASPA, ASS1, AUH, BCKDHA, BCKDHB, BOLA3, CBS, CD320, CPS1, CTH, D2HGDH, DBT, DMGDH, DNAJC19, ETFA, ETFB, ETFDH, FAH, FMO3, FTCD, GCDH, GCH1, GCLC, GCSH, GLDC, GLUD1, GLUL, GLYCTK, GNMT, GSS, HAL, HGD, HIBCH, HMGCL, HPD, HSD17B10, HTRA2, IDH2, IVD, KYNU, L2HGDH, LIAS, LMBRD1, MAT1A, MCCC1, MCCC2, MCEE, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, NAGS, OAT, OCRL, OPA3, OTC, PAH, PCBD1, PCCA, PCCB, PEPD, PHGDH, PRODH, PSAT1, PSPH, PTS, PYCR1, QDPR, SARDH, SLC1A1, SLC25A13, SLC25A15, SLC36A2, SLC3A1, SLC6A19, SLC6A20, SLC7A7, SLC7A9, SUCLA2, SUCLG1, SUGCT, SUOX, TAT, TAZ, UROC1)

Arrhythmias(ABCC9, ACTC1, AKAP9, ANK2, ANK3, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CASQ2, CAV3, DES, DSC2, DSG2, DSP, EMD, GATA4, GJA5, GLA, GPD1L, JUP, KCNA5, KCND3, KCNE1, KCNE1L, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LAMP2, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, NKX2-5, NPPA, NUP155, PKP2, PRKAG2, RANGRF, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SNTA1, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRPM4, TTR)

Arrhythmogenic Right Ventricular Cardiomyopathy/ Dysplasia(ABCC9, ACE, ACTC1, ACTN2, AGT, ANKRD1, BAG3, BMP10, CASQ2, CHRM2, COX15, CRYAB, CSRP3, DES, DMD, DNAJC19, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FKTN, FLT1, FOXD4, FXN, GLA, ILK, JUP, LAMA2, LAMA4, LAMP2, LDB3, LMNA, MURC, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYO6, MYOM1, MYOZ2, MYPN, NDUFAF1, NEBL, NEXN, OBSCN, PDLIM3, PKP2, PLN, PRKAG2, PSEN1, PSEN2, RAF1, RBM20, RYR2, SCN5A, SDHA, SGCD, SLC25A4, SRI, SYNE1, TAZ, TCAP, TCF21, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, TXNRD2, VCL, VPS13A)

Arterial tortuosity syndrome(ABCC6, ADAMTS2, ALDH18A1, ANTXR2, ATP6V0A2, ATP7A, B4GALT7, BANF1, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, ECM1, EFEMP2, ELN, ERCC4, FBLN5, FBN1, FKBP14, FLNA, GGCX, GORAB, GSN, HPGD, HRAS, LMNA, LTBP4, MMP14, PEPD, PLOD1, PYCR1, RIN2, SLC2A10, SLC39A13, SLCO2A1, SMARCAD1, TALDO1, TNXB, WRN, ZMPSTE24)

Arthrogryposis(ADCY6, B4GALT7, CHRNA1, CHRNB1, CHRND, CHRNG, CHST14, COLEC11, DNM2, DOK7, EFNB1, EMG1, ERBB3, FBLN1, FBN2, FGF9, FGFR1, FGFR2, FGFR3, FKBP10, FLNB, GDF5, GLE1, GLI3, GSC, HOXA11, IL11RA, KRAS, LRP4, MASP1, MSX2, MUSK, MYBPC1, MYH3, MYH8, NOG, PIEZO2, PIP5K1C, PITX1, POR, PRMT7, PTPN11, RAB23, RAPSN, RECQL4, RIPK4, RYR1, SALL4, TBX22, TBX4, TNNI2, TNNT3, TPM2, UBA1, VIPAS39, VPS33B, ZIC1)

Arts syndrome(ACSL4, ADNP, AFF2, AGTR2, AHI1, ANK3, ANKRD11, AP1S1, AP1S2, AP3B2, ARFGEF2, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARL13B, ATP10A, ATP6AP2, ATP7A, ATP8A2, ATP13A2, ATRX, AUTS2, BCAP31, BCL11A, BCOR, BRWD3, C12orf57, CA8, CACNA1A, CACNG2, CAMTA1, CASK, CBS, CC2D1A, CC2D2A, CCDC22, CDH15, CDKL5, CEP290, CEP41, CHD2, CHKB, CIC, CLIC2, CLN3, CLN5, CLN6, CLN8, CNNM2, CNTNAP2, CRADD, CRBN, CREBBP, CTNNB1, CTSD, CUL4B, DCAF17, DCX, DEAF1, DIP2B, DLG3, DMD, DNAJC5, DNM1, DNMT3A, DOCK8, DPP6, DYNC1H1, DYRK1A, EFHC2, EFTUD2, EHMT1, ELK1, ELOVL4, ELP2, ENTPD1, EP300, EPB41L1, ESCO2, FGD1, FGFR2, FKRP, FKTN, FLNA, FMN2, FMR1, FOXP1, FRMPD4, FTSJ1, GAMT, GATM, GDI1, GFAP, GNB5, GPC3, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRM1, GRN, HDAC4, HDAC8, HEPACAM, HNRNPU, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IGF1, IL1RAPL1, INPP5E, IQSEC2, IRX5, ISPD, ITPR1, KAT6B, KCNJ10, KCNK9, KCTD7, KDM5C, KIAA1033, KIAA2022, KIF11, KIF1A, KIF7, KIRREL3, L1CAM, LAMA1, LAMP2, LARGE, LINS, MAGT1, MAN1B1, MAOA, MBD5, MBTPS2, MCPH1, MECP2, MED12, MED13L, MED23, MEF2C, MFSD8, MGAT2, MTHFR, MYT1L, NDP, NDST1, NIPBL, NLGN4X, NR2F1, NRXN1, NSD1, NSDHL, NSUN2, NXF5, OCRL, OFD1, OMG, OPHN1, OTC, PAFAH1B1, PAK3, PAX6, PCDH19, PDHA1, PDHX, PEX11B, PEX7, PGK1, PHF6, PHF8, PIGL, PIGO, PIGV, PLP1, POGZ, POLG, POMGNT1, POMT1, POMT2, PORCN, POU1F1, PPM1D, PPP2R1A, PPT1, PQBP1, PRMT7, PRPS1, PRSS12, PTCHD1, RAB39B, RAB3GAP2, RAB40AL, RAD21, RBBP8, RPGRIP1L, RPS6KA3, SATB2, SETBP1, SHROOM4, SIL1, SLC16A1, SLC16A2, SLC2A1, SLC4A4, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, SMC3, SMS, SOBP, SOX3, SOX5, SPTAN1, SRD5A3, SRPX2, ST3GAL3, STXBP1, SYNGAP1, SYP, TAF2, TBC1D24, TBCE, TBL1XR1, TCF4, TCTN1, TCTN2, TECR, TMCO1, TMEM138, TMEM216, TMEM237, TMEM67, TPP1, TRAPPC9, TRIO, TSPAN7, TTC21B, TTI2, TUBA1A, TUSC3, UBE2A, UBE3A, UPF3B, USP9X, VLDLR, WDR81, WWOX, ZBTB16, ZCCHC12, ZDHHC15, ZDHHC9, ZEB2, ZMYND11, ZNF41, ZNF674, ZNF711, ZNF81)

Asparagine synthetase deficiency(AASS, ABCD4, ACAD8, ACADSB, ACAT1, ACSF3, ACY1, ADK, AHCY, ALDH18A1, ALDH4A1, ALDH6A1, AMT, ARG1, ASL, ASNS, ASPA, ASS1, AUH, BCKDHA, BCKDHB, BOLA3, CBS, CD320, CPS1, CTH, D2HGDH, DBT, DMGDH, DNAJC19, ETFA, ETFB, ETFDH, FAH, FMO3, FTCD, GCDH, GCH1, GCLC, GCSH, GLDC, GLUD1, GLUL, GLYCTK, GNMT, GSS, HAL, HGD, HIBCH, HMGCL, HPD, HSD17B10, HTRA2, IDH2, IVD, KYNU, L2HGDH, LIAS, LMBRD1, MAT1A, MCCC1, MCCC2, MCEE, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, NAGS, OAT, OCRL, OPA3, OTC, PAH, PCBD1, PCCA, PCCB, PEPD, PHGDH, PRODH, PSAT1, PSPH, PTS, PYCR1, QDPR, SARDH, SLC1A1, SLC25A13, SLC25A15, SLC36A2, SLC3A1, SLC6A19, SLC6A20, SLC7A7, SLC7A9, SUCLA2, SUCLG1, SUGCT, SUOX, TAT, TAZ, UROC1)

Aspartylglucosaminuria(AGA, AP3B1, ARSA, ARSB, ASAH1, ATP13A2, BLOC1S6, CLN3, CLN5, CLN6, CLN8, CTNS, CTSA, CTSC, CTSD, CTSK, DNAJC5, DTNBP1, FIG4, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GM2A, GNPTAB, GNPTG, GNS, GRN, GUSB, HEXA, HEXB, HGSNAT, HPS1, HPS3, HPS4, HPS5, HPS6, HYAL1, IDS, IDUA, KCTD7, LAMP2, LIPA, LYST, MAN2B1, MANBA, MCOLN1, MFSD8, NAGA, NAGLU, NEU1, NPC1, NPC2, PPT1, PSAP, SGSH, SLC17A5, SMPD1, SUMF1, TPP1)

Asphyxiating thoracic dystrophy(ARL6, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8orf37, CC2D2A, CEP290, CEP41, DYNC2H1, EVC, EVC2, GLI3, IFT122, IFT140, IFT43, IFT80, INPP5E, KIF7, LZTFL1, MKKS, MKS1, NEK1, NPHP3, OFD1, RPGRIP1, RPGRIP1L, SDCCAG8, TCTN1, TCTN2, TMEM138, TMEM216, TMEM237, TMEM67, TRIM32, TTC21B, TTC8, WDPCP, WDR19, WDR35)

Ataxia(ABCB7, ABHD12, ADCK3, AFG3L2, ANO10, APTX, ATCAY, ATM, ATP13A2, ATP1A3, ATP8A2, C10orf2, CA8, CACNA1A, CACNA1G, CACNB4, CAMTA1, CC2D2A, CCDC88C, CISD2, CLCN2, CLN5, CLN6, CLN8, COQ2, COQ4, COQ6, COQ9, COX10, COX6B1, CSTB, CTSD, CYP27A1, DARS2, DNAJC19, DNAJC5, DNMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, EPM2A, FASTKD2, FGF14, FLVCR1, FMR1, FXN, GJB1, GOSR2, GPR56, GRM1, GRN, IFRD1, IFT140, ITM2B, ITPR1, KCNA1, KCND3, KCNJ10, KCTD7, KIAA0226, LMNB2, MARS2, MECP2, MFSD8, MME, MRE11A, MTPAP, NBN, NDUFS7, NHLRC1, NKX2-1, NPC1, NPC2, NUBPL, OPA1, PAX6, PC, PDHA1, PDSS1, PDSS2, PDYN, PEX10, PEX16, PEX2, PEX7, PHYH, PIK3R5, PLEKHG4, PMM2, PNKP, PNPLA6, POLG, POLR3A, POLR3B, PPT1, PRF1, PRICKLE1, PRKCG, PRPS1, PRX, PSEN1, RNF170, RPGRIP1L, SACS, SCARB2, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SETX, SIL1, SLC1A3, SLC2A1, SLC9A6, SPTBN2, SQSTM1, SRD5A3, SYNE1, SYT14, TACO1, TDP1, TGM6, TMEM67, TPP1, TRPC3, TTBK2, TTC19, TTPA, VLDLR, WDR81, WFS1, WWOX, ZNF592)

Ataxia with isolated vitamin E deficiency(ABCD4, ALDH7A1, AMN, BTD, CD320, CUBN, DHFR, FOLR1, GCH1, GGCX, GIF, GPHN, HLCS, LMBRD1, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MTHFR, PAH, PANK2, PCBD1, PNPO, PTS, QDPR, RBP4, SLC19A2, SLC19A3, SLC25A19, SLC46A1, SLC52A1, SLC52A3, SPR, TCN2, TPK1, TTPA, VKORC1)

Ataxia-telangiectasia(ABCB7, ABHD12, ADCK3, AFG3L2, ANO10, APTX, ATCAY, ATM, ATP13A2, ATP1A3, ATP8A2, C10orf2, CA8, CACNA1A, CACNA1G, CACNB4, CAMTA1, CC2D2A, CCDC88C, CISD2, CLCN2, CLN5, CLN6, CLN8, COQ2, COQ4, COQ6, COQ9, COX10, COX6B1, CSTB, CTSD, CYP27A1, DARS2, DNAJC19, DNAJC5, DNMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, EPM2A, FASTKD2, FGF14, FLVCR1, FMR1, FXN, GJB1, GOSR2, GPR56, GRM1, GRN, IFRD1, IFT140, ITM2B, ITPR1, KCNA1, KCND3, KCNJ10, KCTD7, KIAA0226, LMNB2, MARS2, MECP2, MFSD8, MME, MRE11A, MTPAP, NBN, NDUFS7, NHLRC1, NKX2-1, NPC1, NPC2, NUBPL, OPA1, PAX6, PC, PDHA1, PDSS1, PDSS2, PDYN, PEX10, PEX16, PEX2, PEX7, PHYH, PIK3R5, PLEKHG4, PMM2, PNKP, PNPLA6, POLG, POLR3A, POLR3B, PPT1, PRF1, PRICKLE1, PRKCG, PRPS1, PRX, PSEN1, RNF170, RPGRIP1L, SACS, SCARB2, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SETX, SIL1, SLC1A3, SLC2A1, SLC9A6, SPTBN2, SQSTM1, SRD5A3, SYNE1, SYT14, TACO1, TDP1, TGM6, TMEM67, TPP1, TRPC3, TTBK2, TTC19, TTPA, VLDLR, WDR81, WFS1, WWOX, ZNF592)

Ataxia-telangiectasia(ATM)

Atrichia with papular lesions(ANTXR1, APCDD1, ATP7A, BCS1L, BRAF, CDH3, CDSN, CLDN1, DCAF17, DLX3, DSC3, DSG1, DSG4, DSP, EDA, EDAR, EDARADD, EDNRA, ERCC2, ERCC3, FOXN1, GJA1, GJB2, GJB6, GTF2H5, HR, JUP, KRAS, KRT14, KRT74, KRT81, KRT83, KRT85, KRT86, LIPH, LPAR6, MAP2K1, MAP2K2, MBTPS2, MPLKIP, OFD1, PKP1, PVRL1, PVRL4, RBM28, RECQL4, RIN2, RMRP, RNF113A, RPL21, SHOC2, SKIV2L, SLC39A4, SMARCA2, SPINK5, ST14, TRPS1, TTC37, TWIST2, VDR, WNT10A)

ATRX syndrome(ACSL4, ADNP, AFF2, AGTR2, AHI1, ANK3, ANKRD11, AP1S1, AP1S2, AP3B2, ARFGEF2, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARL13B, ATP10A, ATP6AP2, ATP7A, ATP8A2, ATP13A2, ATRX, AUTS2, BCAP31, BCL11A, BCOR, BRWD3, C12orf57, CA8, CACNA1A, CACNG2, CAMTA1, CASK, CBS, CC2D1A, CC2D2A, CCDC22, CDH15, CDKL5, CEP290, CEP41, CHD2, CHKB, CIC, CLIC2, CLN3, CLN5, CLN6, CLN8, CNNM2, CNTNAP2, CRADD, CRBN, CREBBP, CTNNB1, CTSD, CUL4B, DCAF17, DCX, DEAF1, DIP2B, DLG3, DMD, DNAJC5, DNM1, DNMT3A, DOCK8, DPP6, DYNC1H1, DYRK1A, EFHC2, EFTUD2, EHMT1, ELK1, ELOVL4, ELP2, ENTPD1, EP300, EPB41L1, ESCO2, FGD1, FGFR2, FKRP, FKTN, FLNA, FMN2, FMR1, FOXP1, FRMPD4, FTSJ1, GAMT, GATM, GDI1, GFAP, GNB5, GPC3, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GRM1, GRN, HDAC4, HDAC8, HEPACAM, HNRNPU, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IGF1, IL1RAPL1, INPP5E, IQSEC2, IRX5, ISPD, ITPR1, KAT6B, KCNJ10, KCNK9, KCTD7, KDM5C, KIAA1033, KIAA2022, KIF11, KIF1A, KIF7, KIRREL3, L1CAM, LAMA1, LAMP2, LARGE, LINS, MAGT1, MAN1B1, MAOA, MBD5, MBTPS2, MCPH1, MECP2, MED12, MED13L, MED23, MEF2C, MFSD8, MGAT2, MTHFR, MYT1L, NDP, NDST1, NIPBL, NLGN4X, NR2F1, NRXN1, NSD1, NSDHL, NSUN2, NXF5, OCRL, OFD1, OMG, OPHN1, OTC, PAFAH1B1, PAK3, PAX6, PCDH19, PDHA1, PDHX, PEX11B, PEX7, PGK1, PHF6, PHF8, PIGL, PIGO, PIGV, PLP1, POGZ, POLG, POMGNT1, POMT1, POMT2, PORCN, POU1F1, PPM1D, PPP2R1A, PPT1, PQBP1, PRMT7, PRPS1, PRSS12, PTCHD1, RAB39B, RAB3GAP2, RAB40AL, RAD21, RBBP8, RPGRIP1L, RPS6KA3, SATB2, SETBP1, SHROOM4, SIL1, SLC16A1, SLC16A2, SLC2A1, SLC4A4, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, SMC3, SMS, SOBP, SOX3, SOX5, SPTAN1, SRD5A3, SRPX2, ST3GAL3, STXBP1, SYNGAP1, SYP, TAF2, TBC1D24, TBCE, TBL1XR1, TCF4, TCTN1, TCTN2, TECR, TMCO1, TMEM138, TMEM216, TMEM237, TMEM67, TPP1, TRAPPC9, TRIO, TSPAN7, TTC21B, TTI2, TUBA1A, TUSC3, UBE2A, UBE3A, UPF3B, USP9X, VLDLR, WDR81, WWOX, ZBTB16, ZCCHC12, ZDHHC15, ZDHHC9, ZEB2, ZMYND11, ZNF41, ZNF674, ZNF711, ZNF81)

Atypical hemolytic uremic syndrome(C3, CD46, CFB, CFH, CFHR1, CFHR3, CFHR4, CFHR5, CFI, THBD)

Autism spectrum disorders(ADNP, ADSL, AFF2, AUTS2, CDKL5, CHD8, DHCR7, DYRK1A, FMR1, FOXP1, GABRB3, GRIA3, GRIN2A, GRIN2B, HCN1, HERC2, HNRNPU, HOXA1, IL1RAPL1, ITGB3, KCND2, KDM5C, KIAA2022, MAGEL2, MAOA, MECP2, MEF2C, NIPBL, NLGN3, NLGN4X, NRXN1, PCDH19, POGZ, PTEN, RAB39B, RBFOX1, SCN2A, SCN8A, SETD2, SLC6A8, SLC9A6, SYNGAP1, TCF4, TMLHE, TRIO, TSC1, TSC2, UBE3A, UPF3B, ZIC1)

Autoimmune lymphoproliferative syndrome(AGPAT2, ALMS1, BANF1, BSCL2, CAV1, CIDEC, CREBBP, EP300, FADD, FAS, FASLG, GNAS, INPP5E, LEP, LEPR, LIPE, LMNA, MC4R, NTRK2, PCNT, PCSK1, PEPD, PHF6, PIK3R1, PLIN1, POMC, POU1F1, PPARG, PRKAR1A, PSMB8, PTRF, RAB23, RPS6KA3, SERPINA1, SIM1, TBX3, VPS13B, ZMPSTE24)

Autoinflammation, lipodystrophy, and dermatosis syndrome(AGPAT2, ALMS1, BANF1, BSCL2, CAV1, CIDEC, CREBBP, EP300, FADD, FAS, FASLG, GNAS, INPP5E, LEP, LEPR, LIPE, LMNA, MC4R, NTRK2, PCNT, PCSK1, PEPD, PHF6, PIK3R1, PLIN1, POMC, POU1F1, PPARG, PRKAR1A, PSMB8, PTRF, RAB23, RPS6KA3, SERPINA1, SIM1, TBX3, VPS13B, ZMPSTE24)

Atelosteogenesis(ADCY6, B4GALT7, CHRNA1, CHRNB1, CHRND, CHRNG, CHST14, COLEC11, DNM2, DOK7, EFNB1, EMG1, ERBB3, FBLN1, FBN2, FGF9, FGFR1, FGFR2, FGFR3, FKBP10, FLNB, GDF5, GLE1, GLI3, GSC, HOXA11, IL11RA, KRAS, LRP4, MASP1, MSX2, MUSK, MYBPC1, MYH3, MYH8, NOG, PIEZO2, PIP5K1C, PITX1, POR, PRMT7, PTPN11, RAB23, RAPSN, RECQL4, RIPK4, RYR1, SALL4, TBX22, TBX4, TNNI2, TNNT3, TPM2, UBA1, VIPAS39, VPS33B, ZIC1)

A2M(A2M)

A4GALT(A4GALT)

A4GNT(A4GNT)

AAAS(AAAS)

AADAC(AADAC)

AADACL2(AADACL2)

AANAT(AANAT)

AARS(AARS)

AARS2(AARS2)

AASS(AASS)

ABAT(ABAT)

ABCA1(ABCA1)

ABCA10(ABCA10)

ABCA12(ABCA12)

ABCA13(ABCA13)

ABCA2(ABCA2)

ABCA3(ABCA3)

ABCA4(ABCA4)

ABCA7(ABCA7)

ABCB1(ABCB1)

ABCB11(ABCB11)

ABCB4(ABCB4)

ABCB6(ABCB6)

ABCB7(ABCB7)

ABCC1(ABCC1)

ABCC11(ABCC11)

ABCC2(ABCC2)

ABCC3(ABCC3)

ABCC4(ABCC4)

ABCC6(ABCC6)

ABCC8(ABCC8)

ABCC9(ABCC9)

ABCD1(ABCD1)

ABCD3(ABCD3)

ABCD4(ABCD4)

ABCG1(ABCG1)

ABCG2(ABCG2)

ABCG5(ABCG5)

ABCG8(ABCG8)

ABHD12(ABHD12)

ABHD5(ABHD5)

ABI3BP(ABI3BP)

ABO(ABO)

ACACA(ACACA)

ACACB(ACACB)

ACAD8(ACAD8)

ACAD9(ACAD9)

ACADL(ACADL)

ACADM(ACADM)

ACADS(ACADS)

ACADSB(ACADSB)

ACADVL(ACADVL)

ACAN(ACAN)

ACAT1(ACAT1)

ACAT2(ACAT2)

ACBD5(ACBD5)

ACBD6(ACBD6)

ACCS(ACCS)

ACE(ACE)

ACHE(ACHE)

ACLY(ACLY)

ACO2(ACO2)

ACOX1(ACOX1)

ACP5(ACP5)

ACSF3(ACSF3)

ACSL4(ACSL4)

ACSL5(ACSL5)

ACSM2B(ACSM2B)

ACSM3(ACSM3)

ACTA1(ACTA1)

ACTA2(ACTA2)

ACTB(ACTB)

ACTC1(ACTC1)

ACTG1(ACTG1)

ACTN2(ACTN2)

ACTN3(ACTN3)

ACTN4(ACTN4)

ACVR1(ACVR1)

ACVR1B(ACVR1B)

ACVR1C(ACVR1C)

ACVR2B(ACVR2B)

ACVRL1(ACVRL1)

ACY1(ACY1)

ADA(ADA)

ADAM10(ADAM10)

ADAM12(ADAM12)

ADAM17(ADAM17)

ADAM19(ADAM19)

ADAM33(ADAM33)

ADAM7(ADAM7)

ADAM9(ADAM9)

ADAMTS10(ADAMTS10)

ADAMTS13(ADAMTS13)

ADAMTS16(ADAMTS16)

ADAMTS17(ADAMTS17)

ADAMTS18(ADAMTS18)

ADAMTS2(ADAMTS2)

ADAMTSL2(ADAMTSL2)

ADAMTSL3(ADAMTSL3)

ADAMTSL4(ADAMTSL4)

ADAR(ADAR)

ADARB1(ADARB1)

ADC(ADC)

ADCK3(ADCK3)

ADCY10(ADCY10)

ADCY3(ADCY3)

ADCY5(ADCY5)

ADCY6(ADCY6)

ADCY9(ADCY9)

ADCYAP1(ADCYAP1)

ADD1(ADD1)

ADH1B(ADH1B)

ADH1C(ADH1C)

ADH4(ADH4)

ADH5(ADH5)

ADH7(ADH7)

ADIPOQ(ADIPOQ)

ADIPOR1(ADIPOR1)

ADK(ADK)

ADM(ADM)

ADNP(ADNP)

ADORA1(ADORA1)

ADORA2A(ADORA2A)

ADORA3(ADORA3)

ADRA1A(ADRA1A)

ADRA2A(ADRA2A)

ADRA2B(ADRA2B)

ADRA2C(ADRA2C)

ADRB1(ADRB1)

ADRB2(ADRB2)

ADRB3(ADRB3)

ADRBK2(ADRBK2)

ADSL(ADSL)

ADTRP(ADTRP)

AFF2(AFF2)

AFF3(AFF3)

AFG3L2(AFG3L2)

AFP(AFP)

AGA(AGA)

AGBL4(AGBL4)

AGER(AGER)

AGGF1(AGGF1)

AGK(AGK)

AGL(AGL)

AGMO(AGMO)

AGO1(AGO1)

AGO2(AGO2)

AGPAT2(AGPAT2)

AGPS(AGPS)

AGRN(AGRN)

AGRP(AGRP)

AGT(AGT)

AGTR1(AGTR1)

AGTR2(AGTR2)

AGXT(AGXT)

AGXT2(AGXT2)

AHCY(AHCY)

AHI1(AHI1)

AHR(AHR)

AHRR(AHRR)

AHSG(AHSG)

AHSP(AHSP)

AICDA(AICDA)

AIF1(AIF1)

AIFM1(AIFM1)

AIMP1(AIMP1)

AIP(AIP)

AIPL1(AIPL1)

AIRE(AIRE)

AK1(AK1)

AK2(AK2)

AKAP10(AKAP10)

AKAP13(AKAP13)

AKAP2(AKAP2)

AKAP9(AKAP9)

AKR1B1(AKR1B1)

AKR1C2(AKR1C2)

AKR1C3(AKR1C3)

AKR1C4(AKR1C4)

AKR1D1(AKR1D1)

AKR7A2(AKR7A2)

AKR7A3(AKR7A3)

AKT1(AKT1)

AKT2(AKT2)

AKT3(AKT3)

ALAD(ALAD)

ALAS2(ALAS2)

ALB(ALB)

ALCAM(ALCAM)

ALDH16A1(ALDH16A1)

ALDH18A1(ALDH18A1)

ALDH1A1(ALDH1A1)

ALDH1A2(ALDH1A2)

ALDH2(ALDH2)

ALDH3A2(ALDH3A2)

ALDH4A1(ALDH4A1)

ALDH5A1(ALDH5A1)

ALDH6A1(ALDH6A1)

ALDH7A1(ALDH7A1)

ALDOA(ALDOA)

ALDOB(ALDOB)

ALG1(ALG1)

ALG10B(ALG10B)

ALG11(ALG11)

ALG12(ALG12)

ALG13(ALG13)

ALG2(ALG2)

ALG3(ALG3)

ALG6(ALG6)

ALG8(ALG8)

ALG9(ALG9)

ALK(ALK)

ALMS1(ALMS1)

ALOX12(ALOX12)

ALOX12B(ALOX12B)

ALOX15(ALOX15)

ALOX5(ALOX5)

ALOX5AP(ALOX5AP)

ALOXE3(ALOXE3)

ALPL(ALPL)

ALS2(ALS2)

ALS2CL(ALS2CL)

ALX1(ALX1)

ALX3(ALX3)

ALX4(ALX4)

AMACR(AMACR)

AMELX(AMELX)

AMELY(AMELY)

AMER1(AMER1)

AMH(AMH)

AMHR2(AMHR2)

AMN(AMN)

AMPD1(AMPD1)

AMPD3(AMPD3)

AMT(AMT)

ANAPC1(ANAPC1)

ANG(ANG)

ANGPT1(ANGPT1)

ANGPTL3(ANGPTL3)

ANGPTL4(ANGPTL4)

ANGPTL5(ANGPTL5)

ANK1(ANK1)

ANK2(ANK2)

ANK3(ANK3)

ANKH(ANKH)

ANKK1(ANKK1)

ANKRD1(ANKRD1)

ANKRD11(ANKRD11)

ANKRD26(ANKRD26)

ANKS1A(ANKS1A)

ANKS1B(ANKS1B)

ANO10(ANO10)

ANO5(ANO5)

ANO6(ANO6)

ANO7(ANO7)

ANTXR1(ANTXR1)

ANTXR2(ANTXR2)

ANXA11(ANXA11)

ANXA5(ANXA5)

AOAH(AOAH)

AOC1(AOC1)

AP1S1(AP1S1)

AP1S2(AP1S2)

AP3B1(AP3B1)

AP3B2(AP3B2)

AP4B1(AP4B1)

AP4E1(AP4E1)

AP4M1(AP4M1)

AP4S1(AP4S1)

AP5Z1(AP5Z1)

APAF1(APAF1)

APBA2(APBA2)

APBB1(APBB1)

APBB3(APBB3)

APC(APC)

APCDD1(APCDD1)

APEX1(APEX1)

APH1A(APH1A)

APH1B(APH1B)

APLNR(APLNR)

APOA1(APOA1)

APOA2(APOA2)

APOA4(APOA4)

APOA5(APOA5)

APOB(APOB)

APOBEC3B(APOBEC3B)

APOBEC3G(APOBEC3G)

APOBEC3H(APOBEC3H)

APOC1(APOC1)

APOC2(APOC2)

APOC3(APOC3)

APOC4(APOC4)

APOD(APOD)

APOE(APOE)

APOH(APOH)

APOL1(APOL1)

APOL3(APOL3)

APOM(APOM)

APP(APP)

APRT(APRT)

APTX(APTX)

AQP1(AQP1)

AQP2(AQP2)

AQP3(AQP3)

AQP4(AQP4)

AQP5(AQP5)

AQP7(AQP7)

AR(AR)

AREL1(AREL1)

ARF4(ARF4)

ARFGEF2(ARFGEF2)

ARG1(ARG1)

ARHGAP24(ARHGAP24)

ARHGAP31(ARHGAP31)

ARHGAP6(ARHGAP6)

ARHGAP9(ARHGAP9)

ARHGEF10(ARHGEF10)

ARHGEF11(ARHGEF11)

ARHGEF12(ARHGEF12)

ARHGEF6(ARHGEF6)

ARHGEF7(ARHGEF7)

ARHGEF9(ARHGEF9)

ARID1A(ARID1A)

ARID1B(ARID1B)

ARL11(ARL11)

ARL13B(ARL13B)

ARL14EP(ARL14EP)

ARL6(ARL6)

ARL6IP5(ARL6IP5)

ARMS2(ARMS2)

ARPC3(ARPC3)

ARSA(ARSA)

ARSB(ARSB)

ARSE(ARSE)

ARSF(ARSF)

ART4(ART4)

ARVCF(ARVCF)

ARX(ARX)

AS3MT(AS3MT)

ASAH1(ASAH1)

ASAH2(ASAH2)

ASB10(ASB10)

ASCC1(ASCC1)

ASCC3(ASCC3)

ASCL1(ASCL1)

ASIC3(ASIC3)

ASIP(ASIP)

ASL(ASL)

ASMT(ASMT)

ASMTL(ASMTL)

ASNS(ASNS)

ASPA(ASPA)

ASPM(ASPM)

ASPN(ASPN)

ASPRV1(ASPRV1)

ASS1(ASS1)

ASTN2(ASTN2)

ASXL1(ASXL1)

ATCAY(ATCAY)

ATF1(ATF1)

ATF3(ATF3)

ATF5(ATF5)

ATF6(ATF6)

ATG16L1(ATG16L1)

ATG7(ATG7)

ATIC(ATIC)

ATL1(ATL1)

ATM(ATM)

ATN1(ATN1)

ATOH7(ATOH7)

ATP10A(ATP10A)

ATP10D(ATP10D)

ATP13A2(ATP13A2)

ATP13A4(ATP13A4)

ATP1A2(ATP1A2)

ATP1A3(ATP1A3)

ATP1B1(ATP1B1)

ATP2A1(ATP2A1)

ATP2A2(ATP2A2)

ATP2A3(ATP2A3)

ATP2B2(ATP2B2)

ATP2B4(ATP2B4)

ATP2C1(ATP2C1)

ATP5E(ATP5E)

ATP5SL(ATP5SL)

ATP6AP2(ATP6AP2)

ATP6V0A1(ATP6V0A1)

ATP6V0A2(ATP6V0A2)

ATP6V0A4(ATP6V0A4)

ATP6V1B1(ATP6V1B1)

ATP7A(ATP7A)

ATP7B(ATP7B)

ATP8A2(ATP8A2)

ATP8B1(ATP8B1)

ATPAF2(ATPAF2)

ATR(ATR)

ATRNL1(ATRNL1)

ATRX(ATRX)

ATXN1(ATXN1)

ATXN10(ATXN10)

ATXN2(ATXN2)

ATXN3(ATXN3)

ATXN3L(ATXN3L)

ATXN7(ATXN7)

ATXN8OS(ATXN8OS)

AUH(AUH)

AURKA(AURKA)

AURKC(AURKC)

AUTS2(AUTS2)

AVP(AVP)

AVPR1A(AVPR1A)

AVPR1B(AVPR1B)

AVPR2(AVPR2)

AXIN1(AXIN1)

AXIN2(AXIN2)

AXL(AXL)

Autoinflammation, antibody deficiency, and immune dysregulation syndrome(ADAM17, CARD14, DNASE1L3, IL10RA, IL10RB, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRP12, NLRP3, NOD2, PLCG2, PSMB8, PSTPIP1, TNFAIP3, TNFRSF1A)

Autoinflammation, lipodystrophy, and dermatosis syndrome(ADAM17, CARD14, DNASE1L3, IL10RA, IL10RB, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRP12, NLRP3, NOD2, PLCG2, PSMB8, PSTPIP1, TNFAIP3, TNFRSF1A)

Autoinflammatory syndrome, familial, Behcet-like(ADAM17, CARD14, DNASE1L3, IL10RA, IL10RB, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRP12, NLRP3, NOD2, PLCG2, PSMB8, PSTPIP1, TNFAIP3, TNFRSF1A)

Autoinflammatory disorders(ADAM17, CARD14, DNASE1L3, IL10RA, IL10RB, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRP12, NLRP3, NOD2, PLCG2, PSMB8, PSTPIP1, TNFAIP3, TNFRSF1A)

Ataxia-telangiectasia(ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CHD7, CIITA, CORO1A, DCLRE1C, DKC1, DNMT3B, DOCK8, FCGR3A, FOXN1, IFNAR2, IL21, IL21R, IL2RG, IL7R, IRF7, ITK, JAK3, LIG4, MAGT1, MCM4, MS4A1, NBN, NFKB1, NHEJ1, NHP2, ORAI1, PIK3CD, PNP, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RNF168, SEMA3E, SH2D1A, SLC46A1, SMARCAL1, SP110, SPINK5, STAT3, STAT5B, STIM1, STK4, TAP1, TAP2, TAPBP, TCN2, TERT, TFRC, TINF2, TYK2, WAS, ZAP70, ZBTB24)

Autoimmune disease, multisystem, infantile-onset, 1(ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CHD7, CIITA, CORO1A, DCLRE1C, DKC1, DNMT3B, DOCK8, FCGR3A, FOXN1, IFNAR2, IL21, IL21R, IL2RG, IL7R, IRF7, ITK, JAK3, LIG4, MAGT1, MCM4, MS4A1, NBN, NFKB1, NHEJ1, NHP2, ORAI1, PIK3CD, PNP, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RNF168, SEMA3E, SH2D1A, SLC46A1, SMARCAL1, SP110, SPINK5, STAT3, STAT5B, STIM1, STK4, TAP1, TAP2, TAPBP, TCN2, TERT, TFRC, TINF2, TYK2, WAS, ZAP70, ZBTB24)

Autoimmune disease, multisystem, infantile-onset, 2(ADA, AK2, ATM, B2M, BCL10, BLM, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CHD7, CIITA, CORO1A, DCLRE1C, DKC1, DNMT3B, DOCK8, FCGR3A, FOXN1, IFNAR2, IL21, IL21R, IL2RG, IL7R, IRF7, ITK, JAK3, LIG4, MAGT1, MCM4, MS4A1, NBN, NFKB1, NHEJ1, NHP2, ORAI1, PIK3CD, PNP, PRKDC, PTPRC, RAG1, RAG2, RFX5, RFXANK, RNF168, SEMA3E, SH2D1A, SLC46A1, SMARCAL1, SP110, SPINK5, STAT3, STAT5B, STIM1, STK4, TAP1, TAP2, TAPBP, TCN2, TERT, TFRC, TINF2, TYK2, WAS, ZAP70, ZBTB24)

Alpha-Mannosidosis(CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR1, IFNGR2, IL12B, IL12RB1, IRF8, ITGB2, MAN2B1, NCF1, NCF2, NCF4, RAC2, SBDS, SLC35C1, SLC37A4, STAT1, TAZ, USB1, VPS13B, WAS)

Autoimmune disease, multisystem, with facial dysmorphism(ACP5, AIRE, AP3B1, BLOC1S6, CASP10, CASP8, CD27, CTLA4, FADD, FAS, FASLG, IL10RA, IL10RB, IL2RA, ITCH, ITK, LYST, PLCG2, PRF1, RAB27A, SH2D1A, STAT3, STAT5B, STX11, STXBP2, TMEM173, UNC13D, XIAP)

Autoimmune lymphoproliferative syndrome, type IA(ACP5, AIRE, AP3B1, BLOC1S6, CASP10, CASP8, CD27, CTLA4, FADD, FAS, FASLG, IL10RA, IL10RB, IL2RA, ITCH, ITK, LYST, PLCG2, PRF1, RAB27A, SH2D1A, STAT3, STAT5B, STX11, STXBP2, TMEM173, UNC13D, XIAP)

Autoimmune lymphoproliferative syndrome, type IB(ACP5, AIRE, AP3B1, BLOC1S6, CASP10, CASP8, CD27, CTLA4, FADD, FAS, FASLG, IL10RA, IL10RB, IL2RA, ITCH, ITK, LYST, PLCG2, PRF1, RAB27A, SH2D1A, STAT3, STAT5B, STX11, STXBP2, TMEM173, UNC13D, XIAP)

Autoimmune lymphoproliferative syndrome, type II(ACP5, AIRE, AP3B1, BLOC1S6, CASP10, CASP8, CD27, CTLA4, FADD, FAS, FASLG, IL10RA, IL10RB, IL2RA, ITCH, ITK, LYST, PLCG2, PRF1, RAB27A, SH2D1A, STAT3, STAT5B, STX11, STXBP2, TMEM173, UNC13D, XIAP)

Autoimmune lymphoproliferative syndrome, type IIB(ACP5, AIRE, AP3B1, BLOC1S6, CASP10, CASP8, CD27, CTLA4, FADD, FAS, FASLG, IL10RA, IL10RB, IL2RA, ITCH, ITK, LYST, PLCG2, PRF1, RAB27A, SH2D1A, STAT3, STAT5B, STX11, STXBP2, TMEM173, UNC13D, XIAP)

Autoimmune lymphoproliferative syndrome, type V(ACP5, AIRE, AP3B1, BLOC1S6, CASP10, CASP8, CD27, CTLA4, FADD, FAS, FASLG, IL10RA, IL10RB, IL2RA, ITCH, ITK, LYST, PLCG2, PRF1, RAB27A, SH2D1A, STAT3, STAT5B, STX11, STXBP2, TMEM173, UNC13D, XIAP)

Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia(ACP5, AIRE, AP3B1, BLOC1S6, CASP10, CASP8, CD27, CTLA4, FADD, FAS, FASLG, IL10RA, IL10RB, IL2RA, ITCH, ITK, LYST, PLCG2, PRF1, RAB27A, SH2D1A, STAT3, STAT5B, STX11, STXBP2, TMEM173, UNC13D, XIAP)

Agammaglobulinemia 2(AICDA, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, ICOS, IGLL1, MS4A1, PIK3CD, PIK3R1, TNFRSF13B, UNG)

Agammaglobulinemia 3(AICDA, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, ICOS, IGLL1, MS4A1, PIK3CD, PIK3R1, TNFRSF13B, UNG)

Agammaglobulinemia 4(AICDA, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, ICOS, IGLL1, MS4A1, PIK3CD, PIK3R1, TNFRSF13B, UNG)

Agammaglobulinemia 6(AICDA, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, ICOS, IGLL1, MS4A1, PIK3CD, PIK3R1, TNFRSF13B, UNG)

Agammaglobulinemia 7, autosomal recessive(AICDA, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, ICOS, IGLL1, MS4A1, PIK3CD, PIK3R1, TNFRSF13B, UNG)

Agammaglobulinemia and isolated hormone deficiency(AICDA, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, ICOS, IGLL1, MS4A1, PIK3CD, PIK3R1, TNFRSF13B, UNG)

Agammaglobulinemia, X-linked 1(AICDA, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, CXCR4, ICOS, IGLL1, MS4A1, PIK3CD, PIK3R1, TNFRSF13B, UNG)

Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete(AKR1C2, AR, CBX2, CYP11A1, DHCR7, DHH, DMRT1, HSD17B3, LHCGR, MAP3K1, NR0B1, NR5A1, SOX9, ZFPM2)

Androgen insensitivity(AKR1C2, AR, CBX2, CYP11A1, DHCR7, DHH, DMRT1, HSD17B3, LHCGR, MAP3K1, NR0B1, NR5A1, SOX9, ZFPM2)

Aromatase deficiency(CYP11B1, CYP17A1, CYP19A1, CYP21A2, HSD3B2, NR3C1, POR, STAR)

Aromatase excess syndrome(CYP11B1, CYP17A1, CYP19A1, CYP21A2, HSD3B2, NR3C1, POR, STAR)