Syndrome |
Gene |
Chromosome |
Location |
Category |
TAKENOUCHI-KOSAKI SYNDROME | TKS | 1 | p36.12 | Autism spectrum | |
Tatton-Brown-Rahman syndrome | DNMT3A | 2 | p23.3 | Asthma | |
Tay-Sachs disease | HEXA | 15 | q23 | Ataxia spectrum | |
T-cell immunodeficiency congenital alopecia and nail dystrophy | FOXN1 | 17 | q11.2 | Alopecia | |
TEMTAMY SYNDROME | TEMTYS | 12 | p13.31 | Autism spectrum | |
THIOREDOXIN REDUCTASE 2 | TXNRD2 | 22 | q11.21 | Autism spectrum | |
Thrombotic thrombocytopenic purpura | ADAMTS13 | 9 | q34 | Tachycardia (>100 beats/minute) | |
Thyroid disorders | ASXL3 | 18 | q12.1 | Hypothyroidism | |
Thyroid disorders | CCDC6 | 10 | q21.2 | Hypothyroidism | |
Thyroid disorders | CHEK2 | 22 | q12.1 | Hypothyroidism | |
Thyroid disorders | CRYM | 16 | p12.2 | Hypothyroidism | |
Thyroid disorders | DICER1 | 14 | q32.13 | Hypothyroidism | |
Thyroid disorders | ERC1 | 12 | p13.33 | Hypothyroidism | |
Thyroid disorders | FCRL3 | 1 | q23.1 | Hypothyroidism | |
Thyroid disorders | FNLB | 3 | p14.3 | Hypothyroidism | |
Thyroid disorders | FOXE1 | 9 | q22.33 | Hypothyroidism | |
Thyroid disorders | FSHB | 11 | p14.1 | Hypothyroidism | |
Thyroid disorders | HABP2 | 10 | q25.3 | Hypothyroidism | |
Thyroid disorders | HR | 8 | p21.3 | Hypothyroidism | |
Thyroid disorders | HRAS | 11 | p15.5 | Hypothyroidism | |
Thyroid disorders | KCNJ18 | 17 | p11.2 | Hypothyroidism | |
Thyroid disorders | MED17 | 11 | q21 | Hypothyroidism | |
Thyroid disorders | MED23 | 6 | q23.2 | Hypothyroidism | |
Thyroid disorders | MIR2861 | 9 | q34.11 | Hypothyroidism | |
Thyroid disorders | NCOA2 | 8 | q13.3 | Hypothyroidism | |
Thyroid disorders | NCOA4 | 10 | q11.22 | Hypothyroidism | |
Thyroid disorders | NNT | 5 | p12 | Hypothyroidism | |
Thyroid disorders | NR0B2 | 1 | p36.11 | Hypothyroidism | |
Thyroid disorders | NR4A2 | 2 | q24.1 | Hypothyroidism | |
Thyroid disorders | NR4A3 | 9 | q31.1 | Hypothyroidism | |
Thyroid disorders | NTRK1 | 1 | q23.1 | Hypothyroidism | |
Thyroid disorders | P4HB | 17 | q25.3 | Hypothyroidism | |
Thyroid disorders | PCM1 | 8 | p22 | Hypothyroidism | |
Thyroid disorders | PSMC3IP | 17 | q21.2 | Hypothyroidism | |
Thyroid disorders | PTEN | 10 | q23.31 | Hypothyroidism | |
Thyroid disorders | PTPN11 | 12 | q24.13 | Hypothyroidism | |
Thyroid disorders | PTPN22 | 1 | p13.2 | Hypothyroidism | |
Thyroid disorders | RARB | 3 | p24.2 | Hypothyroidism | |
Thyroid disorders | RET | 10 | q11.21 | Hypothyroidism | |
Thyroid disorders | RFN139 | 8 | q24.13 | Hypothyroidism | |
Thyroid disorders | RPL7A | 9 | q34.2 | Hypothyroidism | |
Thyroid disorders | SCGB3A2 | 5 | Q32 | Hypothyroidism | |
Thyroid disorders | SDHB | 1 | p36.13 | Hypothyroidism | |
Thyroid disorders | SDHD | 11 | q23.1 | Hypothyroidism | |
Thyroid disorders | SECISBP2 | 9 | q22.2 | Hypothyroidism | |
Thyroid disorders | SEPSECS | 4 | p15.2 | Hypothyroidism | |
Thyroid disorders | TBC1D24 | 16 | p13.3 | Hypothyroidism | |
Thyroid disorders | THADA | 2 | p21 | Hypothyroidism | |
Thyroid disorders | TRIP11 | 14 | q32.12 | Hypothyroidism | |
Thyroid disorders | TRIP13 | 5 | p15.33 | Hypothyroidism | |
Thyroid disorders | TRIP4 | 15 | q22.31 | Hypothyroidism | |
Thyroid disorders | WRN | 8 | p12 | Hypothyroidism | |
Thyroid disorders | ZFAT | 8 | q24.22 | Hypothyroidism | |
Timothy Syndrome | CACNA1C | 12 | p13.3 | Autism spectrum | |
Timothy Syndrome | TS | 12 | p13.33 | Autism spectrum | |
TNF RECEPTOR-ASSOCIATED FACTOR 7 | TRAF7 | 16 | p13.3 | Autism spectrum | |
TONNE-KALSCHEUER SYNDROME | TOKAS | 23 | q13.2 | Autism spectrum | |
TOPOISOMERASE DNA I | TOP1 | 20 | q12 | Autism spectrum | |
TOPOISOMERASE DNA II BETA | TOP2B | 3 | p24.2 | Autism spectrum | |
TOPOISOMERASE DNA III BETA | TOP3B | 22 | q11.22 | Autism spectrum | |
Tourette syndrome | SLITRK1 | 13 | q31.1 | Panic phobia anxiety | |
TRAFFICKING PROTEIN PARTICLE COMPLEX SUBUNIT 6B | TRAPPC6B | 14 | q21.1 | Autism spectrum | |
Transcobalamin deficiency | TCN2 | 22 | q12.2 | Vitamin B12 metabolism spectrum | |
TRANSCRIPTION FACTOR 12 | TCF12 | 15 | q21.3 | Autism spectrum | |
TRANSDUCIN-BETA-LIKE 1 RECEPTOR 1 | TBL1XR1 | 3 | q26.32 | Autism spectrum | |
TRANSFORMATION/TRANSCRIPTION DOMAIN-ASSOCIATED PROTEIN | TRRAP | 7 | q22.1 | Autism spectrum | |
TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL SUBFAMILY C MEMBER 5 | TRPC5 | 23 | q23 | Autism spectrum | |
Transthyretin amyloidosis | TTR | 18 | q12.1 | Ataxia spectrum | |
Trismus-pseudocamptodactyly | MYH8 | 17 | p13.1 | Arthrogryposis spectrum | |
TRNT1 deficiency | TRNT1 | 3 | p26.2 | Ataxia spectrum | |
TSHZ3 haploinsufficiency | TSHZ3 | 19 | q12 | Autism spectrum | |
TUBB4A-related leukodystrophy | TUBB4A | 19 | p13.3 | Ataxia spectrum | |
TUBEROUS SCLEROSIS 2 | IFNG | 12 | q15 | Autism spectrum | |
Tuberous sclerosis complex | TSC1 | 9 | q34 | Autism spectrum | |
Tuberous sclerosis complex | TSC2 | 16 | p13.3 | Autism spectrum | |
TURNPENNY-FRY SYNDROME | TPFS | 17 | q12 | Autism spectrum | |
Type 1 Diabetes | ACE | 17 | q23.3 | Diabetes | |
Type 1 Diabetes | AGTR1 | 3 | q24 | Diabetes | |
Type 1 Diabetes | BTNL2 | 6 | p21.32 | Diabetes | |
Type 1 Diabetes | C4A | 6 | p21.33 | Diabetes | |
Type 1 Diabetes | CCR5 | 3 | p21.31 | Diabetes | |
Type 1 Diabetes | CD3e | 11 | q23.3 | Diabetes | |
Type 1 Diabetes | CDAN1 | 15 | q15.2 | Diabetes | |
Type 1 Diabetes | CTLA4 | 2 | q33.2 | Diabetes | |
Type 1 Diabetes | FOXP3 | 23 | p11.23 | Diabetes | |
Type 1 Diabetes | HLA-DQA1 | 6 | p21.32 | Diabetes | |
Type 1 Diabetes | HLA-DQB1 | 6 | p21.32 | Diabetes | |
Type 1 Diabetes | HLA-DRB1 | 6 | p21.32 | Diabetes | |
Type 1 Diabetes | HNF1A | 12 | q24.31 | Diabetes | |
Type 1 Diabetes | HNF4A | 20 | q13.12 | Diabetes | |
Type 1 Diabetes | IL2RA | 10 | p15.1 | Diabetes | |
Type 1 Diabetes | IL6 | 7 | p15.3 | Diabetes | |
Type 1 Diabetes | INS | 11 | p15.5 | Diabetes | |
Type 1 Diabetes | ITPR3 | 6 | p21.31 | Diabetes | |
Type 1 Diabetes | NLRP1 | 17 | p13.2 | Diabetes | |
Type 1 Diabetes | OAS1 | 12 | q24.13 | Diabetes | |
Type 1 Diabetes | PTPN22 | 1 | p13.2 | Diabetes | |
Type 1 Diabetes | SEC23B | 20 | p11.23 | Diabetes | |
Type 1 Diabetes | SLC29A3 | 10 | q22.1 | Diabetes | |
Type 1 Diabetes | SUMO4 | 6 | q25.1 | Diabetes | |
Type 2 Diabetes | ABCA1 | 9 | q31.1 | Diabetes | |
Type 2 Diabetes | ACE | 17 | q23.3 | Diabetes | |
Type 2 Diabetes | ADCY5 | 3 | q21.1 | Diabetes | |
Type 2 Diabetes | ADRB2 | 5 | q32 | Diabetes | |
Type 2 Diabetes | AGPAT2 | 9 | q34.3 | Diabetes | |
Type 2 Diabetes | ALOX12 | 17 | p13.1 | Diabetes | |
Type 2 Diabetes | ANGPTL4 | 19 | p13.2 | Diabetes | |
Type 2 Diabetes | CAPN10 | 2 | q37.3 | Diabetes | |
Type 2 Diabetes | CAT | 11 | p13 | Diabetes | |
Type 2 Diabetes | CAVIN1 | 17 | q21.2 | Diabetes | |
Type 2 Diabetes | CIDEA | 18 | p11.21 | Diabetes | |
Type 2 Diabetes | CIDEC | 3 | p25.3 | Diabetes | |
Type 2 Diabetes | ENPP1 | 6 | q23.2 | Diabetes | |
Type 2 Diabetes | FTO | 16 | q12.2 | Diabetes | |
Type 2 Diabetes | GCGR | 17 | q25.3 | Diabetes | |
Type 2 Diabetes | GCKR | 2 | p23.3 | Diabetes | |
Type 2 Diabetes | GHR | 5 | p13.1 | Diabetes | |
Type 2 Diabetes | HNF4A | 20 | q13.12 | Diabetes | |
Type 2 Diabetes | KLF11 | 2 | p25.1 | Diabetes | |
Type 2 Diabetes | LPIN1 | 2 | p25.1 | Diabetes | |
Type 2 Diabetes | MAPK8IP1 | 11 | p11.2 | Diabetes | |
Type 2 Diabetes | NEUROD1 | 2 | q31.3 | Diabetes | |
Type 2 Diabetes | PIK3R1 | 5 | q13.1 | Diabetes | |
Type 2 Diabetes | PNPLA2 | 11 | p15.5 | Diabetes | |
Type 2 Diabetes | PPARG | 3 | p25.2 | Diabetes | |
Type 2 Diabetes | PPARGC1B | 5 | q32 | Diabetes | |
Type 2 Diabetes | PTPRN2 | 7 | q36.3 | Diabetes | |
Type 2 Diabetes | RETN | 19 | p13.2 | Diabetes | |
Type 2 Diabetes | SH2B3 | 12 | q24.12 | Diabetes | |
Type 2 Diabetes | SLC19A2 | 1 | q24.2 | Diabetes | |
Type 2 Diabetes | SLC2A10 | 20 | q13.12 | Diabetes | |
Type 2 Diabetes | SLC2A2 | 3 | q26.2 | Diabetes | |
Type 2 Diabetes | SLC2A4 | 17 | p13.1 | Diabetes | |
Type 2 Diabetes | SLC30A8 | 8 | q24.11 | Diabetes | |
Type 2 Diabetes | TBC1D4 | 13 | q22.2 | Diabetes | |
Type 2 Diabetes | TFAP2B | 6 | p12.3 | Diabetes | |
Type 2 Diabetes | WRN | 8 | p12 | Diabetes | |
TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE GAMMA | YWHAG | 7 | q11.23 | Autism spectrum | |
Tyrosine hydroxylase deficiency | TH | 11 | p15.5 | Panic phobia anxiety | |
TYROSINE KINASE NONRECEPTOR 2 | TNK2 | 3 | q29 | Autism spectrum | |
Tyrosinemia type 01 | FAH | 15 | q25.1 | Ataxia spectrum | |
Tyrosinemia type 02 | TAT | 16 | q22.2 | Ataxia spectrum | |
Tyrosinemia type 03 | HPD | 12 | q24.31 | Ataxia spectrum | |