Protein | Gene Symbol | All allelic disease phenotypes - locus/disease symbols |
| Tafazzin | |  * Cardiomyopathy, X-linked dilated - CMD3A (10.103, 10.90)
* Noncompaction of left ventricular myocardium, isolated - INVM (10.103, 10.90)
* Endocardial fibroelastosis-2 - G4.5 (10.103, 10.90)
* Barth syndrome - BTHS (10.103, 10.90)
|
Tank-binding kinase 1 | | * Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS4 (12.88)
| TAR DNA binding protein | | * Distal myopathy, late-onset - (4.29, 12.63)
* amyotrophic lateral sclerosis 10 - ALS10 (4.29, 12.63)
| TATA box binding protein | | * Spinocerebellar ataxia 17 - SCA17 (13.15)
| Tau tubulin kinase 2 | | * Spinocerebellar ataxia 11 - SCA11 (13.10)
| Tectonin beta-propeller repeat containing 2 | | * Spastic paraplegia 49, autosomal recessive - SPG49 (14.114, 15.49)
* Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay - HSAN9 (14.114, 15.49)
| Telethonin | | * Dilated cardiomyopathy, 1N - (2.16, 10.27, 10.51)
* Congenital musuclar dystrophy with telethonin defect - (2.16, 10.27, 10.51)
* Muscular dystrophy, limb-girdle, type 2G - LGMD2G (2.16, 10.27, 10.51)
* Hypertrophic cardiomyopathy related to TCAP - CMH25 (2.16, 10.27, 10.51)
| THAP domain-containing protein 11 | | * Spinocerebellar ataxia 51 - SCA51 (13.47)
| Tho complex, subunit 2 | | * Arthrogryposis multiplex congenita 7, X-linked - AMC7 (17.26)
| Thymidine kinase 2, mitochondrial(M) | | * Mitochondrial dna depletion syndrome, myopathic form - MTDPS3 (13.28, 16.9, 16.13)
* Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 3 - PEOB3 (13.28, 16.9, 16.13)
| Thymidine phosphorylase | | * Mitochondrial DNA depletion syndrome 1 (MNGIE type) - MTDPS1 (16.12)
| Thyroid hormone receptor interactor 4 | | * Muscular dystrophy, congenital Davignon-Chauveau type - MDCD (2.48, 12.16)
* Spinal muscular atrophy with congenital bone fractures 1 - SMABF1 (2.48, 12.16)
| Titin | | * Congenital myopathy with fatal cardiomyopathy - (1.32, 3.24, 3.28, 3.39, 4.4, 5.10, 10.8, 10.44, 12.101)
* Centronuclear myopathy related to TTN - (1.32, 3.24, 3.28, 3.39, 4.4, 5.10, 10.8, 10.44, 12.101)
* LGMDR10 (Formerly LGMD2J) - (1.32, 3.24, 3.28, 3.39, 4.4, 5.10, 10.8, 10.44, 12.101)
* Lethal Congenital Contracture Syndrome related to TTN - (1.32, 3.24, 3.28, 3.39, 4.4, 5.10, 10.8, 10.44, 12.101)
* Cardiomyopathy, familial hypertrophic, 9 - CMH9 (1.32, 3.24, 3.28, 3.39, 4.4, 5.10, 10.8, 10.44, 12.101)
* Tibial muscular dystrophy, tardive - TMD (1.32, 3.24, 3.28, 3.39, 4.4, 5.10, 10.8, 10.44, 12.101)
* Hereditary myopathy with early respiratory failure - HMERF (1.32, 3.24, 3.28, 3.39, 4.4, 5.10, 10.8, 10.44, 12.101)
* Autosomal dominant myopathy with proximal muscle weakness and early respiratory - (1.32, 3.24, 3.28, 3.39, 4.4, 5.10, 10.8, 10.44, 12.101)
* Cardiomyopathy, dilated, 1G - CMD1G (1.32, 3.24, 3.28, 3.39, 4.4, 5.10, 10.8, 10.44, 12.101)
* Limb girdle muscular dystrophy 2J (autosomal recessive) - LGMD2J (1.32, 3.24, 3.28, 3.39, 4.4, 5.10, 10.8, 10.44, 12.101)
* Congenital myopathy 5 with cardiomyopathy (formerly Salih myopathy) - CMYP5 (SALMY) (1.32, 3.24, 3.28, 3.39, 4.4, 5.10, 10.8, 10.44, 12.101)
| Tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E def | | * Ataxia, Friedreich-like, with selective vitamin E deficiency - AVED (13.59)
* Ataxia with isolated vitamin E deficiency - TTPA (13.59)
| Torsin A | | * Torsion dystonia, early onset - EOTD (17.1)
| Torsin A interacting protein 1 | | * LAP1B related muscular dystrophy - (1.9, 11.41)
* Congenital myasthenic syndrome - (1.9, 11.41)
* Limb-Girdle, Muscular dystrophy, type 2Y - LGMD2Y (1.9, 11.41)
* Myopathy, autosomal recessive, with rigid spine and distal joint contractures - MRRSDC (1.9, 11.41)
| Trafficking protein particle complex 11 | | * Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype - CMD (1.35, 2.42)
* Limb-Girdle, Muscular dystrophy, type 2S - LGMD2S (1.35, 2.42)
| Trafficking protein particle complex 2-like | | * Congenital muscular dystrophy related to TRAPPC2L - (2.52)
| Trans-2,3-Enoyl-CoA Reductase-Like Protein | | * Ventricular tachycardia, catecholaminergic polymorphic, recessive - CPVT3 (10.130)
| Transforming growth factor, beta 3 | | * Arrhythmogenic right ventricular dysplasia, familial, 1 - ARVD1 (10.115)
* Arrhythmogenic right ventricular dysplasia, 1 - TGFB3 (10.115)
| Transglutaminase 6 | | * Spinocerebellar ataxia 35 - SCA35 (13.31)
| Transient receptor potential cation channel subfamily C member 3 | | * Spinocerebellar ataxia 41 - SCA41 (13.36)
| Transient receptor potential cation channel, subfamily V, member 4 | | * Scapuloperoneal spinal muscular atrophy - SPSMA (12.30, 12.39, 14.50)
* Spinal muscular atrophy, congenital benin, with contractures - SMAL (12.30, 12.39, 14.50)
* Spinal muscular atrophy congenital non progressive of lower limbs - SMAL (12.30, 12.39, 14.50)
* Neuronopathy, distal hereditary motor, type VIII - HMN8 (12.30, 12.39, 14.50)
| Translocase of inner mitochondrial membrane 22(M) | | * Combined oxidative phosphorylation deficiency 43 - COXPD43 (16.25)
| Translocase of Outer Mitochondrial Membrane 70 | | * Neurological impairment - (13.55)
| Transmembrane protein 126B(M) | | * Mitochondrial complex I deficiency, nuclear type 29 - MC1DN29 (16.31)
| Transmembrane protein 168 | | * Brugada syndrome - BRGDA (10.186)
| Transmembrane protein 240 | | * Spinocerebellar ataxia 19 - SCA21 (13.19)
| Transmembrane protein 43 | | * luma related muscular dystrophy - (1.8, 10.119)
* arrhythmogenic right ventricular dysplasia, familial, 5 - ARVD5 (1.8, 10.119)
* Emery-dreifuss muscular dystrophy 7 - EDMD7 (1.8, 10.119)
| Transmembrane protein 63c | | * Spastic paraplegia 87, autosomal recessive - SPG87 (15.76)
| Transmembrane Protein 65 | | * Mitochondrial myopathy with severe neurological manifestations - (16.27)
| Transportin 3 | | * Congenital Myopathy related to TNPO3 - (1.17, 3.62)
* Muscular dystrophy, Limb-Girdle, Type 1F - LGMD1F (1.17, 3.62)
| Transthyretin (prealbumin, amyloidosis type I) | | * Familial amyloid neuropathy - (17.4)
| Triadin | | * Cardiac arrhythmia syndrome, with or without skeletal muscle weakness - CPVT5 (10.132)
| Tripartite motif containing 2 | | * Charcot-Marie-Tooth neuropathy Type 2R - CMT2R (14.90)
| Tripartite motif containing 63, E3 ubiquitin protein ligase | | * Cardiac and skeletal aggregate myopathy - (5.14)
| Tripartite motif-containing 32 | | * Sarcotubular myopathy - (1.31, 3.42)
* Muscular dystrophy, limb-girdle, type 2H - LGMD2H (1.31, 3.42)
| Tripartite motif-containing 54 | | * Cardiac and skeletal aggregate myopathy - (5.14)
| Tripeptidyl peptidase I | | * Spinocerebellar ataxia, autosomal recessive 7 - SCAR7 (13.67)
| TRK-fused gene | | * Hereditary motor and sensory, neuropathy, proximal, type - HMSNP (14.71, 15.57)
* Neuropathy, hereditary motor and sensory, Okinawa type - HMSNO (14.71, 15.57)
* Spastic paraplegia 57, autosomal recessive - SPG57 (14.71, 15.57)
| tRNA-histidine guanyltransferase 1-like protein | | * Spinocerebellar ataxia, autosomal recessive 28 - SCAR28 (13.88)
| Tropomyosin 1 (alpha) | | * Cardiomyopathy, familial hypertrophic, 3 - CMH3 (10.3, 10.112, 10.62)
* Cardiomyopathy, dilated, 1Y - CMD1Y (10.3, 10.112, 10.62)
* Left ventricular noncompaction 9 - LVNC9 (10.3, 10.112, 10.62)
| Tropomyosin 2 (beta) | | * Arthrogryposis, distal, type 1A - DA1A (3.6, 3.36, 17.9, 17.15)
* arthrogryposis, distal, type 2B - DA2B (3.6, 3.36, 17.9, 17.15)
* Nemaline myopathy 4 - NEM4 (3.6, 3.36, 17.9, 17.15)
* Cap myopathy, TPM2-related, included - (3.6, 3.36, 17.9, 17.15)
| Tropomyosin 3 | | * Nemaline myopathy 1, autosomal dominant - NEM1 (3.3, 3.4)
| Troponin C Fast | | * Congenital myopathy 15 - CMYP15 (3.54)
| Troponin I, cardiac | | * Cardiomyopathy, familial restrictive - RCM (10.6, 10.69, 10.81, 10.96)
* Cardiomyopathy, familial hypertrophic - CMH7 (10.6, 10.69, 10.81, 10.96)
* Cardiomyopathy, dilated, 1FF - CMD1FF (10.6, 10.69, 10.81, 10.96)
| Troponin I, type 2 | | * Arthrogryposis, distal, type 2B - DA2B (17.12)
| Troponin T2, cardiac | | * Cardiomyopathy, familial hypertrophic, 2 - CMH2 (10.2, 10.109, 10.42, 10.98)
* Cardiomyopathy, dilated, 1D - CMD1D (10.2, 10.109, 10.42, 10.98)
* Left ventricular noncompaction 6 - LVNC6 (10.2, 10.109, 10.42, 10.98)
| Troponin T3, skeletal | | * Nemalin myopathy with distal arthrogryposis - (3.16, 17.13)
* Arthrogryposis, distal, type 2B - DA2B (3.16, 17.13)
| Tryptophanyl-tRNA synthetase | | * Neuronopathy, distal hereditary motor, type IX - HMN9 (12.31)
| Ts translation elongation factor, mitochondrial(M) | | * Mitochondrial hypertrophic cardiomyopathy related to TSFM - COXPD3 (10.32)
| Tubulin, Alpha-4A | | * Amyotrophic lateral sclerosis 22 - ALS22 (12.75)
| Tubulin, beta 3 | | * Fibrosis of extraocular muscles, congenital, 3 - CFEOM3 (17.7)
| Twinkle mtDNA helicase | | * Spinocerebellar ataxia, infantile-onset, with sensory neuropathy - IOSCA (13.60, 16.3)
* Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEO3A (13.60, 16.3)
| Tyrosyl-DNA phosphodiesterase 1 | | * spinocerebellar ataxia, autosomal recessive, with axonal neuropathy - SCAN1 (13.94)
| Tyrosyl-DNA phosphodiesterase 2 | | * Spinocerebellar ataxia, autosomal recessive 23 - SCAR23 (13.83)
| Tyrosyl-tRNA synthetase | | * Charcot-Marie-Tooth neuropathy, dominant intermediate C - CMTDIC (14.16)
| Tyrosyl-tRNA synthetase 2, mitochondrial(M) | | * Myopathy, lactic acidosis, and sideroblastic anemia-2 - MLASA2 (16.23)
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