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Disorder Names
Tangier disease(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)
Tay-Sachs disease(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)
T-cell immunodeficiency, congenital alopecia, and nail dystrophy(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)
Thiamine metabolism dysfunction syndrome(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)
Thiamine-responsive megaloblastic anemia syndrome(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)
Thiopurine S-methyltransferase 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)
Timothy 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)
Toenail dystrophy, isolated(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)
Townes-Brocks Syndrome(ABCG2, AHI1, ALDH16A1, ALMS1, ANOS1, BCS1L, C3, CCBE1, CD151, CDC73, CEP41, CFH, CFHR5, COL4A1, CPT2, DHCR7, FGF20, FN1, FREM1, GATA3, GPC3, H19, HSD11B2, IFT140, JAG1, KAT6B, KMT2D, LRP4, MBTPS2, MKKS, NEK8, NIPBL, NOTCH2, NPHP3, NSD1, SALL1, SALL4, SLC17A3, SLC2A9, SPRY2, TMEM138, TMEM216, VIPAS39, VPS33B, WNT4)
Transaldolase deficiency(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)
Transaldolase deficiency(AGL, AGXT, ALDOA, ALDOB, ARSB, BTD, DCXR, ENO3, EPM2A, FBP1, FUCA1, G6PC, G6PD, GAA, GALE, GALK1, GALNS, GALT, GBE1, GK, GLB1, GNPTAB, GNPTG, GNS, GPI, GRHPR, GUSB, GYG1, GYS1, GYS2, HGSNAT, HLCS, HOGA1, HYAL1, IDS, IDUA, KHK, LAMP2, LCT, LDHA, LDHB, MAN2B1, MANBA, MCOLN1, NAGLU, NEU1, NHLRC1, PC, PCK1, PCK2, PFKM, PGAM2, PGK1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PYGL, PYGM, RPIA, SGSH, SI, SLC16A1, SLC2A1, SLC2A2, SLC37A4, SLC5A1, TALDO1, TPI1)
Trichodento-osseous 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)
Trichohepatoenteric 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)
Trichorhinophalangeal syndrome (type I, II, III)(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)
Trichothiodystrophy(BLM, DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, GTF2H5, MPLKIP, POLH, RECQL4, RNF113A, UVSSA, WRN, XPA, XPC)
Trifunctional protein 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)
Trimethylaminuria(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)
Triosephosphate isomerase deficiency(AGL, AGXT, ALDOA, ALDOB, ARSB, BTD, DCXR, ENO3, EPM2A, FBP1, FUCA1, G6PC, G6PD, GAA, GALE, GALK1, GALNS, GALT, GBE1, GK, GLB1, GNPTAB, GNPTG, GNS, GPI, GRHPR, GUSB, GYG1, GYS1, GYS2, HGSNAT, HLCS, HOGA1, HYAL1, IDS, IDUA, KHK, LAMP2, LCT, LDHA, LDHB, MAN2B1, MANBA, MCOLN1, NAGLU, NEU1, NHLRC1, PC, PCK1, PCK2, PFKM, PGAM2, PGK1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PYGL, PYGM, RPIA, SGSH, SI, SLC16A1, SLC2A1, SLC2A2, SLC37A4, SLC5A1, TALDO1, TPI1)
Tuberous sclerosis(AKT1, BRAF, CBL, FAS, HRAS, KRAS, MAP2K1, MAP2K2, NF1, NF2, NRAS, PIK3CA, PTEN, PTPN11, RAF1, RASA1, SDHB, SEC23B, SHOC2, SOS1, SPRED1, TSC1, TSC2)
Tumoral calcinosis, hyperphosphatemic(CLCN5, DMP1, FAM20C, FGF23, FGFR1, GALNT3, KL, LMX1B, PHEX, SLC34A1, SLC34A3, TFAP2A)
Tyrosinemia(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)
Tall stature, scoliosis & macrodactyly of great toes(DIS3L2, DNMT3A, EZH2, FBN1, FBN2, FGFR3, GPC3, LRP4, NPR2, NSD1, RNF135, SETD2, SKI, SMAD3, SOST, TGFB2, TGFB3, TGFBR1, TGFBR2)
Tarsal-carpal coalition syndrome(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)
Terminal osseous 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)
Tetraamelia(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)
Thanatophoric 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)
Thrombocytopenia-absent radius 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)
Thyroid cancer(ATM, AIP, BRCA1, BRCA2, CDC73, CDKN2A, MEN1, PALB2, PTEN, RET, SDHAF2, SDHB, SDHC, SDHD, SMAD4, STK11, TP53, VHL)
Torrance 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)
Townes-Brocks 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)
Treacher Collins 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)
Tricho-rhino-phalangeal 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)
Trichodentoosseous dysplasia(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)
Trichothiodystrophy(ERCC2, ERCC3)
Trigonocephaly(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)
Triphalangeal thumb-polysyndactyly syndrome(CC2D2A,CEP290,EVC, EVC2, FAM58A,FBLN1, FGF10, FGFR2, FGFR3, FRAS1, FREM2, GJA1, GLI3, GREM1, GRIP1, HYLS1, HOXD13, ICK, KIF7, LMBR1, LRP4, MKKS, MKS1, NOG, OFD1, RAB23, RPGRIP1L, SALL1, TMEM216, TMEM67, WDPCP)
Tuberous sclerosis(TSC1, TSC2)
Turcot syndrome(APC, BMPR1A, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, SMAD4, STK11, TP53)
T(T)
TAAR6(TAAR6)
TAAR9(TAAR9)
TAB2(TAB2)
TAC3(TAC3)
TACO1(TACO1)
TACR3(TACR3)
TACSTD2(TACSTD2)
TAF1(TAF1)
TAF15(TAF15)
TAF1C(TAF1C)
TAF1L(TAF1L)
TAF2(TAF2)
TAF7L(TAF7L)
TAL1(TAL1)
TALDO1(TALDO1)
TAP1(TAP1)
TAP2(TAP2)
TAPBP(TAPBP)
TARDBP(TARDBP)
TAS1R1(TAS1R1)
TAS1R2(TAS1R2)
TAS1R3(TAS1R3)
TAS2R16(TAS2R16)
TAS2R19(TAS2R19)
TAS2R3(TAS2R3)
TAS2R38(TAS2R38)
TAS2R43(TAS2R43)
TAS2R46(TAS2R46)
TAS2R50(TAS2R50)
TAS2R9(TAS2R9)
TAT(TAT)
TAZ(TAZ)
TBC1D1(TBC1D1)
TBC1D23(TBC1D23)
TBC1D24(TBC1D24)
TBC1D4(TBC1D4)
TBCE(TBCE)
TBK1(TBK1)
TBL1X(TBL1X)
TBL1XR1(TBL1XR1)
TBL1Y(TBL1Y)
TBP(TBP)
TBX1(TBX1)
TBX10(TBX10)
TBX15(TBX15)
TBX19(TBX19)
TBX2(TBX2)
TBX20(TBX20)
TBX21(TBX21)
TBX22(TBX22)
TBX3(TBX3)
TBX4(TBX4)
TBX5(TBX5)
TBX6(TBX6)
TBXA2R(TBXA2R)
TBXAS1(TBXAS1)
TCAP(TCAP)
TCF21(TCF21)
TCF4(TCF4)
TCF7(TCF7)
TCF7L1(TCF7L1)
TCF7L2(TCF7L2)
TCIRG1(TCIRG1)
TCN1(TCN1)
TCN2(TCN2)
TCOF1(TCOF1)
TCP1(TCP1)
TCTE1(TCTE1)
TCTE3(TCTE3)
TCTN1(TCTN1)
TCTN2(TCTN2)
TDGF1(TDGF1)
TDO2(TDO2)
TDP1(TDP1)
TDRD7(TDRD7)
TEAD1(TEAD1)
TECR(TECR)
TECTA(TECTA)
TEK(TEK)
TEKT2(TEKT2)
TENM4(TENM4)
TEP1(TEP1)
TERC(TERC)
TERT(TERT)
TET1(TET1)
TEX14(TEX14)
TF(TF)
TFAM(TFAM)
TFAP2A(TFAP2A)
TFAP2B(TFAP2B)
TFB1M(TFB1M)
TFCP2(TFCP2)
TFF1(TFF1)
TFPI(TFPI)
TFR2(TFR2)
TFRC(TFRC)
TG(TG)
TGFB1(TGFB1)
TGFB2(TGFB2)
TGFB3(TGFB3)
TGFBI(TGFBI)
TGFBR1(TGFBR1)
TGFBR2(TGFBR2)
TGFBR3(TGFBR3)
TGFBRAP1(TGFBRAP1)
TGIF1(TGIF1)
TGM1(TGM1)
TGM2(TGM2)
TGM5(TGM5)
TGM6(TGM6)
TH(TH)
THADA(THADA)
THAP1(THAP1)
THBD(THBD)
THBS1(THBS1)
THBS2(THBS2)
THBS4(THBS4)
THPO(THPO)
THRA(THRA)
THRB(THRB)
THSD7A(THSD7A)
TICAM1(TICAM1)
TIMM44(TIMM44)
TIMM8A(TIMM8A)
TIMP1(TIMP1)
TIMP2(TIMP2)
TIMP3(TIMP3)
TINAG(TINAG)
TINF2(TINF2)
TIRAP(TIRAP)
TJP2(TJP2)
TK2(TK2)
TLK1(TLK1)
TLL1(TLL1)
TLR1(TLR1)
TLR10(TLR10)
TLR2(TLR2)
TLR3(TLR3)
TLR4(TLR4)
TLR5(TLR5)
TLR6(TLR6)
TLR7(TLR7)
TLR8(TLR8)
TLR9(TLR9)
TM4SF19(TM4SF19)
TMC1(TMC1)
TMC6(TMC6)
TMC8(TMC8)
TMCO1(TMCO1)
TMEM114(TMEM114)
TMEM126A(TMEM126A)
TMEM127(TMEM127)
TMEM135(TMEM135)
TMEM138(TMEM138)
TMEM165(TMEM165)
TMEM173(TMEM173)
TMEM185A(TMEM185A)
TMEM187(TMEM187)
TMEM2(TMEM2)
TMEM216(TMEM216)
TMEM237(TMEM237)
TMEM39A(TMEM39A)
TMEM43(TMEM43)
TMEM67(TMEM67)
TMEM70(TMEM70)
TMEM8A(TMEM8A)
TMEM9(TMEM9)
TMIE(TMIE)
TMLHE(TMLHE)
TMPO(TMPO)
TMPRSS11A(TMPRSS11A)
TMPRSS15(TMPRSS15)
TMPRSS3(TMPRSS3)
TMPRSS4(TMPRSS4)
TMPRSS5(TMPRSS5)
TMPRSS6(TMPRSS6)
TNC(TNC)
TNF(TNF)
TNFAIP2(TNFAIP2)
TNFAIP3(TNFAIP3)
TNFRSF10A(TNFRSF10A)
TNFRSF10B(TNFRSF10B)
TNFRSF11A(TNFRSF11A)
TNFRSF11B(TNFRSF11B)
TNFRSF13B(TNFRSF13B)
TNFRSF13C(TNFRSF13C)
TNFRSF1A(TNFRSF1A)
TNFRSF1B(TNFRSF1B)
TNFRSF25(TNFRSF25)
TNFRSF4(TNFRSF4)
TNFSF10(TNFSF10)
TNFSF11(TNFSF11)
TNFSF13B(TNFSF13B)
TNFSF14(TNFSF14)
TNFSF15(TNFSF15)
TNFSF4(TNFSF4)
TNFSF8(TNFSF8)
TNKS(TNKS)
TNNC1(TNNC1)
TNNI2(TNNI2)
TNNI3(TNNI3)
TNNI3K(TNNI3K)
TNNT1(TNNT1)
TNNT2(TNNT2)
TNNT3(TNNT3)
TNP1(TNP1)
TNR(TNR)
TNS3(TNS3)
TNXB(TNXB)
TOMM40(TOMM40)
TOP1MT(TOP1MT)
TOPBP1(TOPBP1)
TOPORS(TOPORS)
TOR1A(TOR1A)
TOX3(TOX3)
TP53(TP53)
TP53AIP1(TP53AIP1)
TP53BP1(TP53BP1)
TP53I3(TP53I3)
TP53RK(TP53RK)
TP63(TP63)
TP73(TP73)
TPCN2(TPCN2)
TPH1(TPH1)
TPH2(TPH2)
TPI1(TPI1)
TPK1(TPK1)
TPM1(TPM1)
TPM2(TPM2)
TPM3(TPM3)
TPMT(TPMT)
TPO(TPO)
TPP1(TPP1)
TPP2(TPP2)
TPRN(TPRN)
TPSB2(TPSB2)
TPTE(TPTE)
TRAC(TRAC)
TRADD(TRADD)
TRAF3(TRAF3)
TRAF3IP1(TRAF3IP1)
TRAF3IP2(TRAF3IP2)
TRAF6(TRAF6)
TRAK2(TRAK2)
TRAPPC10(TRAPPC10)
TRAPPC2(TRAPPC2)
TRAPPC9(TRAPPC9)
TRB(TRB)
TRBV9(TRBV9)
TRD(TRD)
TRDN(TRDN)
TREM2(TREM2)
TRERF1(TRERF1)
TREX1(TREX1)
TRHR(TRHR)
TRIB1(TRIB1)
TRIB3(TRIB3)
TRIL(TRIL)
TRIM17(TRIM17)
TRIM21(TRIM21)
TRIM22(TRIM22)
TRIM32(TRIM32)
TRIM37(TRIM37)
TRIM5(TRIM5)
TRIO(TRIO)
TRIOBP(TRIOBP)
TRIP11(TRIP11)
TRIP12(TRIP12)
TRMT1(TRMT1)
TRMU(TRMU)
TROAP(TROAP)
TROVE2(TROVE2)
TRPA1(TRPA1)
TRPC3(TRPC3)
TRPC4(TRPC4)
TRPC5(TRPC5)
TRPC6(TRPC6)
TRPM1(TRPM1)
TRPM2(TRPM2)
TRPM3(TRPM3)
TRPM4(TRPM4)
TRPM6(TRPM6)
TRPM7(TRPM7)
TRPS1(TRPS1)
TRPV1(TRPV1)
TRPV3(TRPV3)
TRPV4(TRPV4)
TRPV5(TRPV5)
TRRAP(TRRAP)
TSC1(TSC1)
TSC2(TSC2)
TSEN2(TSEN2)
TSEN34(TSEN34)
TSEN54(TSEN54)
TSFM(TSFM)
TSHB(TSHB)
TSHR(TSHR)
TSHZ1(TSHZ1)
TSLP(TSLP)
TSPAN12(TSPAN12)
TSPAN17(TSPAN17)
TSPAN7(TSPAN7)
TSPO(TSPO)
TSPYL1(TSPYL1)
TSSC4(TSSC4)
TSSK2(TSSK2)
TSSK3(TSSK3)
TSSK4(TSSK4)
TST(TST)
TTBK2(TTBK2)
TTC19(TTC19)
TTC21B(TTC21B)
TTC37(TTC37)
TTC8(TTC8)
TTI2(TTI2)
TTLL11(TTLL11)
TTN(TTN)
TTPA(TTPA)
TTR(TTR)
TTTY13(TTTY13)
TUBA1A(TUBA1A)
TUBA8(TUBA8)
TUBB1(TUBB1)
TUBB2B(TUBB2B)
TUBB3(TUBB3)
TUBGCP4(TUBGCP4)
TUBGCP5(TUBGCP5)
TUBGCP6(TUBGCP6)
TUFM(TUFM)
TULP1(TULP1)
TULP3(TULP3)
TUSC3(TUSC3)
TWIST1(TWIST1)
TWIST2(TWIST2)
TXN2(TXN2)
TXNRD2(TXNRD2)
TYK2(TYK2)
TYMP(TYMP)
TYMS(TYMS)
TYR(TYR)
TYROBP(TYROBP)
TYRP1(TYRP1)
T-cell immunodeficiency, congenital alopecia, and nail dystrophy(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)
T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations(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)
Transcobalamin II deficiency(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)
Thrombophilia due to thrombomodulin defect(C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4B, C5, C6, C7, C8A, C8B, C9, CD59, CFB, CFD, CFH, CFHR5, CFI, CFP, COLEC11, CR2, FCN3, ITGB2, MASP2, SERPING1, THBD)