Gene product table



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


* Cardiomyopathy, X-linked dilated - CMD3A (10.80, 10.91)
* Noncompaction of left ventricular myocardium, isolated - INVM (10.80, 10.91)
* Endocardial fibroelastosis-2 - G4.5 (10.80, 10.91)
* Barth syndrome - BTHS (10.80, 10.91)
Tank-binding kinase 1
TBK1 (12q14.2)


* Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS4 (12.75)
TAR DNA binding protein
TARDBP (1p36.2)


* amyotrophic lateral sclerosis 10 - ALS10 (12.53)
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 (15.48)
Telethonin
TCAP (17q12)


* Dilated cardiomyopathy, 1N - (1.31, 2.16, 10.26, 10.49)
* Congenital musuclar dystrophy with telethonin defect - (1.31, 2.16, 10.26, 10.49)
* Muscular dystrophy, limb-girdle, type 2G - LGMD2G (1.31, 2.16, 10.26, 10.49)
* Hypertrophic cardiomyopathy related to TCAP - CMH25 (1.31, 2.16, 10.26, 10.49)
Thymidine kinase 2, mitochondrial(M)
TK2 (16q22-q23)


* Mitochondrial dna depletion syndrome, myopathic form - MTDPS3 (13.28, 16.41, 16.45)
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 3 - PEOB3 (13.28, 16.41, 16.45)
Thymidine phosphorylase
TYMP (22q13.33)


* Mitochondrial DNA depletion syndrome 1 (MNGIE type) - MTDPS1 (16.44)
Thyroid hormone receptor interactor 4
TRIP4 (15q22.31)


* Muscular dystrophy, congenital Davignon-Chauveau type - MDCD (2.50, 12.11)
* Spinal muscular atrophy with congenital bone fractures 1 - SMABF1 (2.50, 12.11)
Titin
TTN (2q31)


* Congenital myopathy with fatal cardiomyopathy - (1.34, 3.25, 3.32, 3.43, 4.2, 5.10, 10.8, 10.42, 12.87)
* Centronuclear myopathy related to TTN - (1.34, 3.25, 3.32, 3.43, 4.2, 5.10, 10.8, 10.42, 12.87)
* LGMDR10 (Formerly LGMD2J) - (1.34, 3.25, 3.32, 3.43, 4.2, 5.10, 10.8, 10.42, 12.87)
* Lethal Congenital Contracture Syndrome related to TTN - (1.34, 3.25, 3.32, 3.43, 4.2, 5.10, 10.8, 10.42, 12.87)
* Cardiomyopathy, familial hypertrophic, 9 - CMH9 (1.34, 3.25, 3.32, 3.43, 4.2, 5.10, 10.8, 10.42, 12.87)
* Tibial muscular dystrophy, tardive - TMD (1.34, 3.25, 3.32, 3.43, 4.2, 5.10, 10.8, 10.42, 12.87)
* Hereditary myopathy with early respiratory failure - HMERF (1.34, 3.25, 3.32, 3.43, 4.2, 5.10, 10.8, 10.42, 12.87)
* Autosomal dominant myopathy with proximal muscle weakness and early respiratory - (1.34, 3.25, 3.32, 3.43, 4.2, 5.10, 10.8, 10.42, 12.87)
* Cardiomyopathy, dilated, 1G - CMD1G (1.34, 3.25, 3.32, 3.43, 4.2, 5.10, 10.8, 10.42, 12.87)
* Limb girdle muscular dystrophy 2J (autosomal recessive) - LGMD2J (1.34, 3.25, 3.32, 3.43, 4.2, 5.10, 10.8, 10.42, 12.87)
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 (13.53)
* Ataxia with isolated vitamin E deficiency - TTPA (13.53)
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)
* Limb-Girdle, Muscular dystrophy, type 2Y - LGMD2Y (1.9, 1.9)
* Myopathy, autosomal recessive, with rigid spine and distal joint contractures - MRRSDC (1.9, 1.9)
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 (1.42, 2.43)
* Limb-Girdle, Muscular dystrophy, type 2S - LGMD2S (1.42, 2.43)
Trans-2,3-Enoyl-CoA Reductase-Like Protein
TECRL (4q13.1)

* Ventricular tachycardia, catecholaminergic polymorphic, recessive - CPVT3 (10.117)
Transforming growth factor, beta 3
TGFB3 (14q24.3)


* Arrhythmogenic right ventricular dysplasia, familial, 1 - ARVD1 (10.103)
* Arrhythmogenic right ventricular dysplasia, 1 - TGFB3 (10.103)
Transglutaminase 6
TGM6 (20p13)


* Spinocerebellar ataxia 35 - SCA35 (13.31)
Transient receptor potential cation channel subfamily C member 3
TRPC3 (4q27)


* Spinocerebellar ataxia 41 - SCA41 (13.36)
Transient receptor potential cation channel, subfamily V, member 4
TRPV4 (12q23-q24)


* Scapuloperoneal spinal muscular atrophy - SPSMA (12.29, 12.30, 14.49)
* Spinal muscular atrophy, congenital benin, with contractures - SMAL (12.29, 12.30, 14.49)
* Spinal muscular atrophy congenital non progressive of lower limbs - SMAL (12.29, 12.30, 14.49)
Translocase of inner mitochondrial membrane 22(M)
TIMM22 (17q13.3)


* Early onset of mitochondrial myopathy - (16.71)
Transmembrane protein 168
TMEM168 (7q31.1 )

* Brugada syndrome - BRGDA (10.172)
Transmembrane protein 240
TMEM240 (1p36.33)


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


* luma related muscular dystrophy - (1.8, 10.107)
* arrhythmogenic right ventricular dysplasia, familial, 5 - ARVD5 (1.8, 10.107)
* Emery-dreifuss muscular dystrophy 7 - EDMD7 (1.8, 10.107)
Transmembrane Protein 65
TMEM65 (8q24.13)

* Mitochondrial myopathy with severe neurological manifestations - (16.65)
Transportin 3
TNPO3 (7q32.1-q32.2)


* Congenital Myopathy related to TNPO3 - (1.14, 3.61)
* Muscular dystrophy, Limb-Girdle, Type 1F - LGMD1F (1.14, 3.61)
Transthyretin (prealbumin, amyloidosis type I)
TTR (18q12.1)


* Familial amyloid neuropathy - (16.4)
Triadin
TRDN (6q22.31)


* CPVT5 - Ventricular tachycar (10.119)
Tripartite motif containing 2
TRIM2 (4q31.3)


* Charcot-Marie-Tooth neuropathy Type 2R - CMT2R (14.85)
Tripartite motif containing 63, E3 ubiquitin protein ligase
TRIM63 (1p36.11)


* Cardiac and skeletal aggregate myopathy - (5.13)
Tripartite motif-containing 32
TRIM32 (9q33.2)


* Sarcotubular myopathy - (1.32, 3.46)
* Muscular dystrophy, limb-girdle, type 2H - LGMD2H (1.32, 3.46)
Tripartite motif-containing 54
TRIM54 (2p.23.3)


* Cardiac and skeletal aggregate myopathy - (5.13)
Tripeptidyl peptidase I
TPP1 (11p15.4)


* Spinocerebellar ataxia, autosomal recessive 7 - SCAR7 (13.60)
TRK-fused gene
TFG (3q13)


* Hereditary motor and sensory, neuropathy, proximal, type - HMSNP (14.69, 15.56)
* Neuropathy, hereditary motor and sensory, Okinawa type - HMSNO (14.69, 15.56)
* Spastic paraplegia 57, autosomal recessive - SPG57 (14.69, 15.56)
tRNA-histidine guanyltransferase 1-like protein
THG1L (5q33.3)


* Spinocerebellar ataxia, autosomal recessive 28 - SCAR28 (13.81)
Tropomyosin 1 (alpha)
TPM1 (15q22)


* Cardiomyopathy, familial hypertrophic, 3 - CMH3 (10.3, 10.100, 10.60)
* Cardiomyopathy, dilated, 1Y - CMD1Y (10.3, 10.100, 10.60)
* Left ventricular noncompaction 9 - LVNC9 (10.3, 10.100, 10.60)
Tropomyosin 2 (beta)
TPM2 (9p13)


* Arthrogryposis, distal, type 1A - DA1A (3.4, 3.40, 16.9, 16.15)
* arthrogryposis, distal, type 2B - DA2B (3.4, 3.40, 16.9, 16.15)
* Nemaline myopathy 4 - NEM4 (3.4, 3.40, 16.9, 16.15)
* Cap myopathy, TPM2-related, included - (3.4, 3.40, 16.9, 16.15)
Tropomyosin 3
TPM3 (1q21.2)


* Nemaline myopathy 1, autosomal dominant - NEM1 (3.1, 3.16, 3.39)
Troponin I, cardiac
TNNI3 (19q13.4)


* Cardiomyopathy, familial restrictive - RCM (10.6, 10.67, 10.78, 10.85)
* Cardiomyopathy, familial hypertrophic - CMH7 (10.6, 10.67, 10.78, 10.85)
* Cardiomyopathy, dilated, 1FF - CMD1FF (10.6, 10.67, 10.78, 10.85)
Troponin I, type 2
TNNI2 (11p15.5)


* Arthrogryposis, distal, type 2B - DA2B (16.12)
Troponin T2, cardiac
TNNT2 (1q32)


* Cardiomyopathy, familial hypertrophic, 2 - CMH2 (10.2, 10.40, 10.87, 10.97)
* Cardiomyopathy, dilated, 1D - CMD1D (10.2, 10.40, 10.87, 10.97)
* Left ventricular noncompaction 6 - LVNC6 (10.2, 10.40, 10.87, 10.97)
Troponin T3, skeletal
TNNT3 (11p15.5)


* Arthrogryposis, distal, type 2B - DA2B (16.13)
Tryptophanyl-tRNA synthetase
WARS (14q32.2)


* Neuronopathy, distal hereditary motor, type IX - HMN9 (12.25)
Ts translation elongation factor, mitochondrial(M)
TSFM (12q14.1)


* Mitochondrial hypertrophic cardiomyopathy related to TSFM - COXPD3 (10.30)
Tubulin, Alpha-4A
TUBA4A (2q35)


* Amyotrophic lateral sclerosis 22 - ALS22 (12.65)
Tubulin, beta 3
TUBB3 (16q24.3)


* Fibrosis of extraocular muscles, congenital, 3 - CFEOM3 (16.7)
Twinkle mtDNA helicase
TWNK (10q23.-q24.1)


* Spinocerebellar ataxia, infantile-onset, with sensory neuropathy - IOSCA (13.54, 16.35)
* Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEO3A (13.54, 16.35)
Tyrosyl-DNA phosphodiesterase 1
TDP1 (14q31-q32)


* spinocerebellar ataxia, autosomal recessive, with axonal neuropathy - SCAN1 (13.82)
Tyrosyl-DNA phosphodiesterase 2
TDP2 (6p22.3)


* Spinocerebellar ataxia, autosomal recessive 23 - SCAR23 (13.76)
Tyrosyl-tRNA synthetase
YARS (1p35.1)


* Charcot-Marie-Tooth neuropathy, dominant intermediate C - CMTDIC (14.15)
Tyrosyl-tRNA synthetase 2, mitochondrial(M)
YARS2 (12p11.21)


* Myopathy, lactic acidosis, and sideroblastic anemia-2 - MLASA2 (16.61)