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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)