Protein | Gene Symbol | All allelic disease phenotypes - locus/disease symbols |
| Tafazzin | |  * 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 | | * amyotrophic lateral sclerosis 10 - ALS10 (12.48)
| 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 (15.44)
| Telethonin | | * 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) | | * Mitochondrial dna depletion syndrome, myopathic form - MTDPS3 (13.29, 16.21)
| thyroid hormone receptor interactor 4 | | * 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 | | * 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 | | * Ataxia, Friedreich-like, with selective vitamin E deficiency - AVED (13.48)
* Ataxia with isolated vitamin E deficiency - TTPA (13.48)
| Torsin A | | * Torsion dystonia, early onset - EOTD (16.1)
| Torsin A interacting protein 1 | | * LAP1B related muscular dystrophy - (1.9, 1.45)
* Limb-Girdle, Muscular dystrophy, type 2Y - LGMD2Y (1.9, 1.45)
| trafficking protein particle complex 11 | | * Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype - CMD (1.39, 2.45)
* Limb-Girdle, Muscular dystrophy, type 2S - LGMD2S (1.39, 2.45)
| Transforming growth factor, beta 3 | | * Arrhythmogenic right ventricular dysplasia, familial, 1 - ARVD1 (10.79)
* Arrhythmogenic right ventricular dysplasia, 1 - TGFB3 (10.79)
| Transglutaminase 6 | | * Spinocerebellar ataxia 35 - SCA35 (13.32)
| transient receptor potential cation channel subfamily C member 3 | | * Spinocerebellar ataxia 41 - SCA41 (13.37)
| Transient receptor potential cation channel, subfamily V, member 4 | | * 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 | | * Spinocerebellar ataxia 19 - SCA21 (13.19)
| Transmembrane protein 43 | | * 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 | | * Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A10 - MDGGA10 (2.39)
| Transportin 3 | | * Muscular dystrophy, Limb-Girdle, Type 1F - LGMD1F (1.18)
| Transthyretin (prealbumin, amyloidosis type I) | | * Familial amyloid neuropathy - (16.4)
| Tripartite motif containing 2 | | * Charcot-Marie-Tooth neuropathy Type 2R - CMT2R (14.57)
| Tripartite motif containing 63, E3 ubiquitin protein ligase | | * Cardiac and skeletal aggregate myopathy - (5.10)
| Tripartite motif-containing 32 | | * Sarcotubular myopathy - (1.28, 3.43)
* Muscular dystrophy, limb-girdle, type 2H - LGMD2H (1.28, 3.43)
| Tripartite motif-containing 54 | | * Cardiac and skeletal aggregate myopathy - (5.10)
| TRK-fused gene | | * 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) | | * Cardiomyopathy, familial hypertrophic, 3 - CMH3 (10.3, 10.52)
* Cardiomyopathy, dilated, 1Y - CMD1Y (10.3, 10.52)
| Tropomyosin 2 (beta) | | * 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 | | * Nemaline myopathy 1, autosomal dominant - NEM1 (3.1, 3.13, 3.37)
| Troponin I, cardiac | | * Cardiomyopathy, familial restrictive - RCM (10.6, 10.64, 10.72)
* Cardiomyopathy, familial hypertrophic - CMH7 (10.6, 10.64, 10.72)
| Troponin I, type 2 | | * Arthrogryposis, distal, type 2B - DA2B (16.10)
| Troponin T2, cardiac | | * Cardiomyopathy, familial hypertrophic, 2 - CMH2 (10.2, 10.34)
* Cardiomyopathy, dilated, 1D - CMD1D (10.2, 10.34)
| Troponin T3, skeletal | | * Arthrogryposis, distal, type 2B - DA2B (16.11)
| Ts translation elongation factor, mitochondrial(M) | | * Mitochondrial hypertrophic cardiomyopathy related to TSFM - COXPD3 (10.24)
| Tubulin, beta 3 | | * Fibrosis of extraocular muscles, congenital, 3 - CFEOM3 (16.7)
| Tyrosyl-DNA phosphodiesterase 1 | | * spinocerebellar ataxia, autosomal recessive, with axonal neuropathy - SCAN1 (13.60)
| Tyrosyl-tRNA synthetase | | * Charcot-Marie-Tooth neuropathy, dominant intermediate C - CMTDIC (14.13)
| tyrosyl-tRNA synthetase 2, mitochondrial(M) | | * Myopathy, lactic acidosis, and sideroblastic anemia-2 - MLASA2 (16.31)
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