| Gene |
Chromosome |
Location |
Syndrome |
Category |
| TAF15 | 17 | q12 | ALS | ALS - amyotrophic lateral sclerosis | |
| TAF6 | 7 | q22.1 | Alazami-Yuan syndrome | Autism spectrum | |
| TAGAP | 6 | q25.3 | Rheumatoid arthritis | Arthritis | |
| TARDBP | 1 | p36.22 | ALS | ALS - amyotrophic lateral sclerosis | |
| TAT | 16 | q22.2 | Tyrosinemia type 02 | Ataxia spectrum | |
| TBC1D24 | 16 | p13.3 | Thyroid disorders | Hypothyroidism | |
| TBC1D24 | 16 | p13.3 | Microcephaly - other | Microcephaly | |
| TBC1D4 | 13 | q22.2 | Type 2 Diabetes | Diabetes | |
| TBCK | 4 | q24 | Hypotonia infantile with psychomotor retardation and characteristic facies 3 | Autism spectrum | |
| TBHS | 22 | q11.23 | HYPERTELORISM TEEBI TYPE | Autism spectrum | |
| TBK1 | 12 | q14.2 | ALS | ALS - amyotrophic lateral sclerosis | |
| TBL1XR1 | 3 | q26.32 | TRANSDUCIN-BETA-LIKE 1 RECEPTOR 1 | Autism spectrum | |
| TBP | 6 | q27 | Huntington disease-like syndrome type 4 | Huntington`s disease spectrum | |
| TBP | 6 | q27 | Parkinson disease susceptability | Parkinsonism |
| TBR1 | 2 | q24.2 | Autism 18 (AUTS18) | Autism spectrum | |
| TBX1 | 22 | q11.21 | DiGeorge 22q11.2 deletion syndrome | Autism spectrum | |
| TBX21 | 17 | q21.32 | Asthma with nasal polyps and aspirin intolerance (ANPAI) | Asthma | |
| TBX5 | 12 | q24.1 | Holt-Oram syndrome | Bradycardia (<60 beats/minute) | |
| TCF12 | 15 | q21.3 | TRANSCRIPTION FACTOR 12 | Autism spectrum | |
| TCF20 | 22 | q13.2 | Alacrima Achalasia and Mental Retardation Syndrome | Autism spectrum | |
| TCF4 | 18 | q21.2 | Microcephaly - other | Microcephaly | |
| TCF4 | 18 | q21.1 | Pitt-Hopkins syndrome | Autism spectrum | |
| TCF7L2 | 10 | q25.2-3 | Diabetes mellitus type 2 | Autism spectrum | |
| TCF7L2 | 10 | q25.2 | Gestational diabetes | Diabetes | |
| TCN2 | 22 | q12.2 | Transcobalamin deficiency | Vitamin B12 metabolism spectrum | |
| TDGF1 | 3 | p21.31 | Microcephaly - other | Microcephaly | |
| TDP1 | 14 | q32.11 | Spinocerebellar ataxia autosomal recessive with axonal neuropathy type 01 | Ataxia spectrum | |
| TDRD7 | 9 | q22.33 | Cataract 36 (CTRCT36) | Cataracts | |
| TEMTYS | 12 | p13.31 | TEMTAMY SYNDROME | Autism spectrum | |
| TFAP2A | 6 | p24 | Branchio-oculo-facial syndrome | Cleft lip / cleft palate | |
| TFAP2B | 6 | p12.3 | Type 2 Diabetes | Diabetes | |
| TG | 8 | q24.22 | Congenital hypothyroidism | Hypothyroidism | |
| TG | 8 | q24 | Graves Disease | Bradycardia (<60 beats/minute) | |
| TG | 8 | q24.22 | Graves disease - overactive thyroid | Hyperthyroidism | |
| TGFB2 | 1 | q41 | Loeys-Dietz syndrome | Asthma | |
| TGFB3 | 14 | q24 | Arrhythmogenic right ventricular cardiomyopathy | Tachycardia (>100 beats/minute) | |
| TGFBI | 5 | q31.1 | Lattice corneal dystrophy type I | Photophobia - sensitivity to light | |
| TGFBR1 | 9 | q22 | Loeys-Dietz syndrome | Asthma | |
| TGFBR2 | 3 | p22 | Loeys-Dietz syndrome | Asthma | |
| TGIF1 | 18 | p11.31 | Microcephaly - other | Microcephaly | |
| TGIF1 | 18 | p11.3 | Nonsyndromic holoprosencephaly | Cleft lip / cleft palate | |
| TGM1 | 14 | q12 | Lamellar ichthyosis | Alopecia | |
| TGM6 | 20 | p13 | Spinocerebellar ataxia type 35 | Ataxia spectrum | |
| TH | 11 | p15.5 | Tyrosine hydroxylase deficiency | Panic phobia anxiety | |
| THADA | 2 | p21 | Thyroid disorders | Hypothyroidism | |
| THRA | 17 | q21.1 | Congenital hypothyroidism | Hypothyroidism | |
| THRB | 3 | p24.2 | Generalized thyroid hormone resistance | Tachycardia (>100 beats/minute) | |
| TIMM8 | 23 | q22.1 | Deafness-dystonia-optic neuronopathy syndrome | Ataxia spectrum | |
| TK2 | 16 | q21 | Progressive external ophthalmoplegia | Ataxia spectrum | |
| TKS | 1 | p36.12 | TAKENOUCHI-KOSAKI SYNDROME | Autism spectrum | |
| TLE3 | 15 | q23 | Rheumatoid arthritis | Arthritis | |
| TLK2 | 17 | q23.2 | Mental retardation autosomal dominant 57 | Autism spectrum | |
| TM6SF2 | 19 | p13.11 | Non-alcoholic fatty liver disease | Diabetes | |
| TMEM114 | 16 | p13.2 | Congenital and juvenile cataracts | Cataracts | |
| TMEM240 | 1 | p36.33 | Spinocerebellar ataxia type 21 | Ataxia spectrum | |
| TMEM43 | 3 | p25.1 | Arrhythmogenic right ventricular cardiomyopathy | Tachycardia (>100 beats/minute) | |
| TMLHE | 23 | q28 | Epsilon-trimethyllysine hydroxylase deficiency | Autism spectrum | |
| TNF | 6 | p21.33 | Narcolepsy | Sleep disorders | |
| TNF | 6 | p21.33 | Guillain-Barré syndrome | Guillain-Barre spectrum | |
| TNFAIP3 | 6 | q23.3 | Rheumatoid arthritis | Arthritis | |
| TNFRSF14 | 1 | p36.32 | Rheumatoid arthritis | Arthritis | |
| TNFRSF1B | 1 | p36.22 | Narcolepsy | Sleep disorders | |
| TNK2 | 3 | q29 | TYROSINE KINASE NONRECEPTOR 2 | Autism spectrum | |
| TNNI2 | 11 | p15.5 | Distal arthrogryposis type 2B (Sheldon-Hall syndrome) | Arthrogryposis spectrum | |
| TNNT3 | 11 | p15.5 | Distal arthrogryposis type 2B (Sheldon-Hall syndrome) | Arthrogryposis spectrum | |
| TNRC6B | 22 | q13.1 | Autism 18 (AUTS18) | Autism spectrum | |
| TOKAS | 23 | q13.2 | TONNE-KALSCHEUER SYNDROME | Autism spectrum | |
| TOP1 | 20 | q12 | TOPOISOMERASE DNA I | Autism spectrum | |
| TOP2B | 3 | p24.2 | TOPOISOMERASE DNA II BETA | Autism spectrum | |
| TOP3B | 22 | q11.22 | TOPOISOMERASE DNA III BETA | Autism spectrum | |
| TOPB | 3 | p24.2 | Ataxia-telangiectasia | Ataxia spectrum | |
| TOX3 | 16 | q12.1 | Restless legs syndrome | Sleep disorders | |
| TP63 | 3 | q28 | Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | Cleft lip / cleft palate | |
| TPFS | 17 | q12 | TURNPENNY-FRY SYNDROME | Autism spectrum | |
| TPM2 | 9 | p13 | Distal arthrogryposis type 1 | Arthrogryposis spectrum | |
| TPMT | 6 | p22.3 | Crohn Disease | Irritable Bowel Disorders | |
| TPO | 2 | p25.3 | Congenital hypothyroidism | Hypothyroidism | |
| TPP1 | 11 | p15.4 | Neuronal ceroid lipofuscinosis disease type 2 | Ataxia spectrum | |
| TRA | 14 | q11.2 | Narcolepsy | Sleep disorders | |
| TRAF1 | 9 | q33.2 | Rheumatoid arthritis | Arthritis | |
| TRAF6 | 11 | p12 | Rheumatoid arthritis | Arthritis | |
| TRAF7 | 16 | p13.3 | TNF RECEPTOR-ASSOCIATED FACTOR 7 | Autism spectrum | |
| TRAPPC6B | 14 | q21.1 | TRAFFICKING PROTEIN PARTICLE COMPLEX SUBUNIT 6B | Autism spectrum | |
| TRDN | 6 | q22.31 | Ventricular tachycardia | Tachycardia (>100 beats/minute) | |
| TREX1 | 3 | p21.31 | Microcephaly - other | Microcephaly | |
| TREX1 | 3 | p21.31 | Aicardi-Goutieres Syndrome | Autism spectrum | |
| TRH | 3 | q22.1 | Hypothalamic hypothyroidism | Hypothyroidism | |
| TRHR | 8 | q23.1 | Congenital hypothyroidism | Hypothyroidism | |
| TRIB1 | 8 | q24.13 | Non-alcoholic fatty liver disease | Diabetes | |
| TRIO | 5 | p15.2 | Mental retardation autosomal dominant 44 | Autism spectrum | |
| TRIP11 | 14 | q32.12 | Thyroid disorders | Hypothyroidism | |
| TRIP12 | 2 | q36.3 | Mental retardation autosomal dominant 49 | Autism spectrum | |
| TRIP13 | 5 | p15.33 | Thyroid disorders | Hypothyroidism | |
| TRIP4 | 15 | q22.31 | Thyroid disorders | Hypothyroidism | |
| trisomy | 13 | all | Patau syndrome | Cleft lip / cleft palate | |
| TRMT10A | 4 | q23 | Microcephaly short stature and impaired glucose metabolism | Microcephaly | |
| TRNT1 | 3 | p26.2 | TRNT1 deficiency | Ataxia spectrum | |
| TRPA1 | 13 | q13 | Familial episodic pain syndrome | Tachycardia (>100 beats/minute) | |
| TRPC5 | 23 | q23 | TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL SUBFAMILY C MEMBER 5 | Autism spectrum | |
| TRPM4 | 19 | q13.33 | Progressive familial heart block | Bradycardia (<60 beats/minute) | |
| TRPM7 | 15 | q21.2 | ALS | ALS - amyotrophic lateral sclerosis | |
| TRRAP | 7 | q22.1 | TRANSFORMATION/TRANSCRIPTION DOMAIN-ASSOCIATED PROTEIN | Autism spectrum | |
| TS | 12 | p13.33 | Timothy Syndrome | Autism spectrum | |
| TSC1 | 9 | q34 | Tuberous sclerosis complex | Autism spectrum | |
| TSC2 | 16 | p13.3 | Tuberous sclerosis complex | Autism spectrum | |
| TSEN2 | 3 | p25.2 | Pontocerebellar hypoplasia | Microcephaly | |
| TSEN34 | 19 | q13.4 | Pontocerebellar hypoplasia | Microcephaly | |
| TSEN54 | 17 | q25.1 | Pontocerebellar hypoplasia | Microcephaly | |
| TSHB | 1 | p13.2 | Congenital hypothyroidism | Hypothyroidism | |
| TSHR | 14 | q31 | Graves Disease | Bradycardia (<60 beats/minute) | |
| TSHR | 14 | q31.1 | Graves disease - overactive thyroid | Hyperthyroidism | |
| TSHR | 14 | q31.1 | Congenital hypothyroidism | Hypothyroidism | |
| TSHZ3 | 19 | q12 | TSHZ3 haploinsufficiency | Autism spectrum | |
| TSPAN7 | 23 | p11.4 | Huntington`s disease | Huntington`s disease spectrum | |
| TTBK2 | 15 | q15.2 | Spinocerebellar ataxia type 11 | Ataxia spectrum | |
| TTPA | 8 | q12.3 | Ataxia with vitamin E deficiency | Ataxia spectrum | |
| TTR | 18 | q12.1 | Transthyretin amyloidosis | Ataxia spectrum | |
| TUBA1A | 12 | q13.12 | Microcephaly - other | Microcephaly | |
| TUBA4A | 2 | q35 | ALS | ALS - amyotrophic lateral sclerosis | |
| TUBB4A | 19 | p13.3 | TUBB4A-related leukodystrophy | Ataxia spectrum | |
| TUBGCP4 | 15 | q15.3 | Microcephaly - other | Microcephaly | |
| TUBGCP6 | 22 | q13.31-.33 | Microcephaly and chorioretinopathy autosomal recessive 1 (MCCRP1) | Microcephaly | |
| TULP1 | 6 | p21.31 | Leber congenital amaurosis | Photophobia - sensitivity to light | |
| TWNK | 10 | q24.31 | Ataxia neuropathy spectrum | Ataxia spectrum | |
| TXNL4A | 18 | q23 | Burn-McKeown syndrome | Cleft lip / cleft palate | |
| TXNRD2 | 22 | q11.21 | THIOREDOXIN REDUCTASE 2 | Autism spectrum | |
| TYK2 | 19 | p13.2 | Rheumatoid arthritis | Arthritis | |
| TYK2 | 19 | p13.2 | Crohn Disease | Irritable Bowel Disorders | |
| TYR | 11 | q14.3 | Oculocutaneous albinism type 1 | Photophobia - sensitivity to light | |
| TYRP1 | 9 | p23 | Oculocutaneous albinism type 3 | Photophobia - sensitivity to light | |