Gene product table



Protein
Gene Symbol
All allelic disease phenotypes - locus/disease symbols
Tafazzin
TAZ (Xq28)


* Cardiomyopathy, X-linked dilated - CMD3A (10.57, 10.75)
* Noncompaction of left ventricular myocardium, isolated - INVM (10.57, 10.75)
* Endocardial fibroelastosis-2 - G4.5 (10.57, 10.75)
* Barth syndrome - BTHS (10.57, 10.75)
TAR DNA binding protein
TARDBP (1p36.2)


* amyotrophic lateral sclerosis 10 - ALS10 (12.48)
TATA box binding protein
TBP (6q27)


* Spinocerebellar ataxia 17 - SCA17 (13.15)
Tau tubulin kinase 2
TTBK2 (15q15.2)


* Spinocerebellar ataxia 11 - SCA11 (13.10)
tectonin beta-propeller repeat containing 2
TECPR2 (14q32)


* Spastic paraplegia 49, autosomal recessive - SPG49 (15.44)
Telethonin
TCAP (17q12)


* Dilated cardiomyopathy, 1N - (1.27, 2.17, 10.43)
* Congenital musuclar dystrophy with telethonin defect - (1.27, 2.17, 10.43)
* Muscular dystrophy, limb-girdle, type 2G - LGMD2G (1.27, 2.17, 10.43)
Thymidine kinase 2, mitochondrial(M)
TK2 (16q22-q23)


* Mitochondrial dna depletion syndrome, myopathic form - MTDPS3 (13.29, 16.21)
thyroid hormone receptor interactor 4
TRIP4 (15q22.31)


* Muscular dystrophy, congenital Davignon-Chauveau type - MDCD (2.47, 12.34)
* Spinal muscular atrophy with congenital bone fractures 1 - SMABF1 (2.47, 12.34)
Titin
TTN (2q31)


* Congenital myopathy with fatal cardiomyopathy - (1.30, 3.21, 3.40, 4.2, 5.16, 10.8, 10.36)
* Centronuclear myopathy related to TTN - (1.30, 3.21, 3.40, 4.2, 5.16, 10.8, 10.36)
* Cardiomyopathy, familial hypertrophic, 9 - CMH9 (1.30, 3.21, 3.40, 4.2, 5.16, 10.8, 10.36)
* Tibial muscular dystrophy, tardive - TMD (1.30, 3.21, 3.40, 4.2, 5.16, 10.8, 10.36)
* Hereditary myopathy with early respiratory failure - HMERF (1.30, 3.21, 3.40, 4.2, 5.16, 10.8, 10.36)
* Autosomal dominant myopathy with proximal muscle weakness and early respiratory - (1.30, 3.21, 3.40, 4.2, 5.16, 10.8, 10.36)
* Cardiomyopathy, dilated, 1G - CMD1G (1.30, 3.21, 3.40, 4.2, 5.16, 10.8, 10.36)
* Limb girdle muscular dystrophy 2J (autosomal recessive) - LGMD2J (1.30, 3.21, 3.40, 4.2, 5.16, 10.8, 10.36)
Tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E def
TTPA (8q13.1-q13.3)


* Ataxia, Friedreich-like, with selective vitamin E deficiency - AVED (13.48)
* Ataxia with isolated vitamin E deficiency - TTPA (13.48)
Torsin A
TOR1A (9q34)


* Torsion dystonia, early onset - EOTD (16.1)
Torsin A interacting protein 1
TOR1AIP1 (1q25.2)

* LAP1B related muscular dystrophy - (1.9, 1.45)
* Limb-Girdle, Muscular dystrophy, type 2Y - LGMD2Y (1.9, 1.45)
trafficking protein particle complex 11
TRAPPC11 (4q35.1)


* Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype - CMD (1.39, 2.45)
* Limb-Girdle, Muscular dystrophy, type 2S - LGMD2S (1.39, 2.45)
Transforming growth factor, beta 3
TGFB3 (14q24.3)


* Arrhythmogenic right ventricular dysplasia, familial, 1 - ARVD1 (10.79)
* Arrhythmogenic right ventricular dysplasia, 1 - TGFB3 (10.79)
Transglutaminase 6
TGM6 (20p13)


* Spinocerebellar ataxia 35 - SCA35 (13.32)
transient receptor potential cation channel subfamily C member 3
TRPC3 (4q27)


* Spinocerebellar ataxia 41 - SCA41 (13.37)
Transient receptor potential cation channel, subfamily V, member 4
TRPV4 (12q23-q24)


* Scapuloperoneal spinal muscular atrophy - SPSMA (12.24, 12.25, 14.43)
* Spinal muscular atrophy, congenital benin, with contractures - SMAL (12.24, 12.25, 14.43)
* Spinal muscular atrophy congenital non progressive of lower limbs - SMAL (12.24, 12.25, 14.43)
transmembrane protein 240
TMEM240 (1p36.33)


* Spinocerebellar ataxia 19 - SCA21 (13.19)
Transmembrane protein 43
TMEM43 (3p25.1)


* luma related muscular dystrophy - (1.8, 10.83)
* arrhythmogenic right ventricular dysplasia, familial, 5 - ARVD5 (1.8, 10.83)
* Emery-dreifuss muscular dystrophy 7 - EDMD7 (1.8, 10.83)
Transmembrane protein 5
TMEM5 (12q14.2)


* Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A10 - MDGGA10 (2.39)
Transportin 3
TNPO3 (7q32.1-q32.2)


* Muscular dystrophy, Limb-Girdle, Type 1F - LGMD1F (1.18)
Transthyretin (prealbumin, amyloidosis type I)
TTR (18q12.1)


* Familial amyloid neuropathy - (16.4)
Tripartite motif containing 2
TRIM2 (4q31.3)


* Charcot-Marie-Tooth neuropathy Type 2R - CMT2R (14.57)
Tripartite motif containing 63, E3 ubiquitin protein ligase
TRIM63 (1p36.11)


* Cardiac and skeletal aggregate myopathy - (5.10)
Tripartite motif-containing 32
TRIM32 (9q33.2)


* Sarcotubular myopathy - (1.28, 3.43)
* Muscular dystrophy, limb-girdle, type 2H - LGMD2H (1.28, 3.43)
Tripartite motif-containing 54
TRIM54 (2p.23.3)


* Cardiac and skeletal aggregate myopathy - (5.10)
TRK-fused gene
TFG (3q13)


* Hereditary motor and sensory, neuropathy, proximal, type - HMSNP (14.63, 15.52)
* Neuropathy, hereditary motor and sensory, Okinawa type - HMSNO (14.63, 15.52)
* Spastic paraplegia 57, autosomal recessive - SPG57 (14.63, 15.52)
Tropomyosin 1 (alpha)
TPM1 (15q22)


* Cardiomyopathy, familial hypertrophic, 3 - CMH3 (10.3, 10.52)
* Cardiomyopathy, dilated, 1Y - CMD1Y (10.3, 10.52)
Tropomyosin 2 (beta)
TPM2 (9p13)


* Arthrogryposis, distal, type 1A - DA1A (3.4, 3.36, 16.8, 16.13)
* arthrogryposis, distal, type 2B - DA2B (3.4, 3.36, 16.8, 16.13)
* Nemaline myopathy 4 - NEM4 (3.4, 3.36, 16.8, 16.13)
* Cap myopathy, TPM2-related, included - (3.4, 3.36, 16.8, 16.13)
Tropomyosin 3
TPM3 (1q21.2)


* Nemaline myopathy 1, autosomal dominant - NEM1 (3.1, 3.13, 3.37)
Troponin I, cardiac
TNNI3 (19q13.4)


* Cardiomyopathy, familial restrictive - RCM (10.6, 10.64, 10.72)
* Cardiomyopathy, familial hypertrophic - CMH7 (10.6, 10.64, 10.72)
Troponin I, type 2
TNNI2 (11p15.5)


* Arthrogryposis, distal, type 2B - DA2B (16.10)
Troponin T2, cardiac
TNNT2 (1q32)


* Cardiomyopathy, familial hypertrophic, 2 - CMH2 (10.2, 10.34)
* Cardiomyopathy, dilated, 1D - CMD1D (10.2, 10.34)
Troponin T3, skeletal
TNNT3 (11p15.5)


* Arthrogryposis, distal, type 2B - DA2B (16.11)
Ts translation elongation factor, mitochondrial(M)
TSFM (12q14.1)


* Mitochondrial hypertrophic cardiomyopathy related to TSFM - COXPD3 (10.24)
Tubulin, beta 3
TUBB3 (16q24)


* Fibrosis of extraocular muscles, congenital, 3 - CFEOM3 (16.7)
Tyrosyl-DNA phosphodiesterase 1
TDP1 (14q31-q32)


* spinocerebellar ataxia, autosomal recessive, with axonal neuropathy - SCAN1 (13.60)
Tyrosyl-tRNA synthetase
YARS (1p35.1)


* Charcot-Marie-Tooth neuropathy, dominant intermediate C - CMTDIC (14.13)
tyrosyl-tRNA synthetase 2, mitochondrial(M)
YARS2 (12p11.21)


* Myopathy, lactic acidosis, and sideroblastic anemia-2 - MLASA2 (16.31)