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 | |