Gene product table

A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z

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

* Cardiomyopathy, X-linked dilated - CMD3A (10.54, 10.69)
* Noncompaction of left ventricular myocardium, isolated - INVM (10.54, 10.69)
* Endocardial fibroelastosis-2 - G4.5 (10.54, 10.69)
* Barth syndrome - BTHS (10.54, 10.69)
TAR DNA binding protein
TARDBP (1p36.2)

* amyotrophic lateral sclerosis 10 - ALS10 (12.31)
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)
telethonin
TCAP (17q12)

* Dilated cardiomyopathy, 1N - (1.25, 2.26, 10.40)
* Congenital musuclar dystrophy with telethonin defect - (1.25, 2.26, 10.40)
* Muscular dystrophy, limb-girdle, type 2G - LGMD2G (1.25, 2.26, 10.40)
Thymidine kinase 2, mitochondrial
TK2 (16q22-q23)

* Mitochondrial dna depletion syndrome, myopathic form - MTDPS3 (13.28, 16.21)
titin
TTN (2q31)

* Congenital myopathy with fatal cardiomyopathy - (1.28, 3.31, 4.2, 5.13, 10.8, 10.33)
* Cardiomyopathy, familial hypertrophic, 9 - CMH9 (1.28, 3.31, 4.2, 5.13, 10.8, 10.33)
* Tibial muscular dystrophy, tardive - TMD (1.28, 3.31, 4.2, 5.13, 10.8, 10.33)
* Hereditry myopathy with early respiratory failure - HMERF (1.28, 3.31, 4.2, 5.13, 10.8, 10.33)
* Autosomal dominant myopathy with proximal muscle weakness and early respiratory - (1.28, 3.31, 4.2, 5.13, 10.8, 10.33)
* Cardiomyopathy, dilated, 1G - CMD1G (1.28, 3.31, 4.2, 5.13, 10.8, 10.33)
* Limb girdle muscular dystrophy 2J (autosomal recessive) - LGMD2J (1.28, 3.31, 4.2, 5.13, 10.8, 10.33)
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 (13.38)
* Ataxia with isolated vitamin E deficiency - TTPA (13.38)
torsin A
TOR1A (9q34)

* Torsion dystonia, early onset - EOTD (16.1)
transforming growth factor, beta 3
TGFB3 (14q24.3)

* Arrhythmogenic right ventricular dysplasia, familial, 1 - ARVD1 (10.72)
* Arrhythmogenic right ventricular dysplasia, 1 - TGFB3 (10.72)
transient receptor potential cation channel, subfamily V, member 4
TRPV4 (12q23-q24)

* Scapuloperoneal spinal muscular atrophy - SPSMA (12.19, 12.20, 14.38)
* Spinal muscular atrophy, congenital benin, with contractures - SMAL (12.19, 12.20, 14.38)
* Spinal muscular atrophy congenital non progressive of lower limbs - SMAL (12.19, 12.20, 14.38)
transmembrane protein 43
TMEM43 (3p25.1)

* luma related muscular dystrophy - (1.8, 10.76)
* arrhythmogenic right ventricular dysplasia, familial, 5 - ARVD5 (1.8, 10.76)
transthyretin (prealbumin, amyloidosis type I)
TTR (18q12.1)

* Familial amyloid neuropathy - (16.4)
Tripartite motif-containing 32
TRIM32 (9q33.2)

* Sarcotubular myopathy - (1.26, 3.34)
* Muscular dystrophy, limb-girdle, type 2H - LGMD2H (1.26, 3.34)
tropomyosin 1 (alpha)
TPM1 (15q22)

* Cardiomyopathy, familial hypertrophic, 3 - CMH3 (10.3, 10.49)
* Cardiomyopathy, dilated, 1Y - CMD1Y (10.3, 10.49)
tropomyosin 2 (beta)
TPM2 (9p13)

* Arthrogryposis, distal, type 1A - DA1A (3.4, 3.5, 3.27, 16.8, 16.13)
* arthrogryposis, distal, type 2B - DA2B (3.4, 3.5, 3.27, 16.8, 16.13)
* Nemaline myopathy 4 - NEM4 (3.4, 3.5, 3.27, 16.8, 16.13)
* Cap myopathy, TPM2-related, included - (3.4, 3.5, 3.27, 16.8, 16.13)
tropomyosin 3
TPM3 (1q21.2)

* Nemaline myopathy 1, autosomal dominant - NEM1 (3.1, 3.11, 3.28)
troponin I, cardiac
TNNI3 (19q13.4)

* Cardiomyopathy, familial restrictive - RCM (10.6, 10.61, 10.66)
* Cardiomyopathy, familial hypertrophic - CMH7 (10.6, 10.61, 10.66)
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, 10.30)
* Cardiomyopathy, dilated, 1D - CMD1D (10.2, 10.30)
troponin T3, skeletal
TNNT3 (11p15.5)

* Arthrogryposis, distal, type 2B - DA2B (16.11)
tubulin, beta 3
TUBB3 (16q24)

* Fibrosis of extraocular muscles, congenital, 3 - CFEOM3 (16.7)
twinkle/twinky (mt DNA helicase)
PEO1 (10q23.3-q24.3)

* Spinocerebellar ataxia, infantile-onset, with sensory neuropathy - IOSCA (13.39, 16.18)
* Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEO3A (13.39, 16.18)
Tyrosyl-DNA phosphodiesterase 1
TDP1 (14q31-q32)

* spinocerebellar ataxia, autosomal recessive, with axonal neuropathy - SCAN1 (13.49)
tyrosyl-tRNA synthetase
YARS (1p35.1)

* Charcot-Marie-Tooth neuropathy, dominant intermediate C - CMTDIC (14.13)