TNNT2, troponin T2, cardiac type, 7139

N. diseases: 79; N. variants: 73
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121964856
rs121964856
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy
0.730 GeneticVariation BEFREE Our results indicated that expression of the mutant (Arg92Gln) cTnT, known to cause HCM in humans, impaired intact adult cardiac myocyte contractility. 9201030 1997
dbSNP: rs121964856
rs121964856
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy
0.730 GeneticVariation BEFREE Genotyping showed a heterozygous mis-sense mutation (275G>A) in the cardiac troponin T (TNNT2) gene, which is causally associated with HCM. 19087273 2008
dbSNP: rs121964856
rs121964856
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy
0.730 GeneticVariation BEFREE Further, engineered heart tissues (EHTs) prepared by combining rat decellularized heart extracellular matrices with heterozygous R92Q mutant cardiomyocytes showed similar drug responses as to HCM patients and increased sensitivity to caspofungin-induced cardiotoxicity. 31759053 2020
dbSNP: rs74315379
rs74315379
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease:
Cardiomyopathy, Dilated
0.720 GeneticVariation BEFREE Gene-Targeted Mice with the Human Troponin T R141W Mutation Develop Dilated Cardiomyopathy with Calcium Desensitization. 27936050 2016
dbSNP: rs74315379
rs74315379
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease:
Cardiomyopathy, Dilated
0.720 GeneticVariation BEFREE A missense mutation R141W in the strong tropomyosin-binding region of cardiac troponin T (cTnT) has recently been reported to cause dilated cardiomyopathy (DCM), following the first report of a DCM-causing deletion mutation DeltaK210. 14654368 2003
dbSNP: rs74315380
rs74315380
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease:
Cardiomyopathy, Dilated
0.720 GeneticVariation BEFREE A missense mutation R141W in the strong tropomyosin-binding region of cardiac troponin T (cTnT) has recently been reported to cause dilated cardiomyopathy (DCM), following the first report of a DCM-causing deletion mutation DeltaK210. 14654368 2003
dbSNP: rs74315380
rs74315380
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease:
Cardiomyopathy, Dilated
0.720 GeneticVariation BEFREE Gene-Targeted Mice with the Human Troponin T R141W Mutation Develop Dilated Cardiomyopathy with Calcium Desensitization. 27936050 2016
dbSNP: rs121964857
rs121964857
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy
0.710 GeneticVariation BEFREE TNNT2 R278C was present in a woman with severe HC, but a sister and a daughter were mutation carriers and did not have hypertrophy. 12881443 2003
dbSNP: rs397516456
rs397516456
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy
0.710 GeneticVariation BEFREE Seven single nucleotide polymorphisms and haplotypes in MYBPH were investigated for hypertrophy modifying effects in 388 individuals (27 families), in which three unique South African HCM-causing founder mutations (p.R403W and pA797T in β-myosin heavy chain gene (MYH7) and p.R92W in the cardiac troponin T gene (TNNT2)) segregate. 26969327 2016
dbSNP: rs397516457
rs397516457
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy
0.710 GeneticVariation BEFREE In contrast, a missense mutation R94L in the vicinity of the strong tropomyosin-binding region associated with hypertrophic cardiomyopathy (HCM) resulted in an increase in the Ca(2+) sensitivity of force generation, as in the case of the other HCM-causing mutations in cTnT reported previously. 14654368 2003
dbSNP: rs727504245
rs727504245
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial
0.710 GeneticVariation BEFREE We have identified a novel missense mutation in exon 9 (Ala104Val) of the cTnT gene in a patient with familial HCM. 9140840 1997
dbSNP: rs727504246
rs727504246
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy
0.710 GeneticVariation BEFREE Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophic cardiomyopathy (HCM) as "benign defects," associated with near-normal survival: N232S, G256E, F513C, V606M, R719Q, and L908V of beta-myosin heavy chain (MYH7); S179F of troponin T (TNNT2); and D175N of alpha-tropomyosin (TPM1). 12473556 2002
dbSNP: rs3729547
rs3729547
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1449563
Disease:
Cardiomyopathy, Familial Idiopathic
0.020 GeneticVariation BEFREE These results suggest that the TPM1 (rs1071646) and TNNT2 (rs3729547) gene variants might represent risk factors for patients with DCM in the Kazakh population. 26400351 2015
dbSNP: rs3729547
rs3729547
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1449563
Disease:
Cardiomyopathy, Familial Idiopathic
0.020 GeneticVariation BEFREE In the TNNT2 gene, there was a significant association between DCM and genotype for the tagging SNPs rs3729547 (χ(2) = 6.63, P = 0.036, OR = 0.650, and 95% CI = 0.453-0.934) and rs3729843 (χ(2) = 9.787, P = 0.008, OR = 1.912, and 95% CI = 1.265-2.890) in the Chinese Han population. 23586019 2013
dbSNP: rs3729843
rs3729843
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1449563
Disease:
Cardiomyopathy, Familial Idiopathic
0.020 GeneticVariation BEFREE In the TNNT2 gene, there was a significant association between DCM and genotype for the tagging SNPs rs3729547 (χ(2) = 6.63, P = 0.036, OR = 0.650, and 95% CI = 0.453-0.934) and rs3729843 (χ(2) = 9.787, P = 0.008, OR = 1.912, and 95% CI = 1.265-2.890) in the Chinese Han population. 23586019 2013
dbSNP: rs3729843
rs3729843
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1449563
Disease:
Cardiomyopathy, Familial Idiopathic
0.020 GeneticVariation BEFREE Alleles of two novel SNPs (c.192 + 353 C>A, OR = 0.095, 95% CI: 0.013-0.714, P = 0.022; c.192 + 463 G>A, OR = 0.090, 95% CI: 0.012-0.675, P = 0.019) and SNP rs3729843 (OR = 1.889, 95% CI: 1.252-2.852; P = 0.002) were significantly correlated with DCM. 25110706 2014
dbSNP: rs74315379
rs74315379
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1449563
Disease:
Cardiomyopathy, Familial Idiopathic
0.020 GeneticVariation BEFREE A missense mutation R141W in the strong tropomyosin-binding region of cardiac troponin T (cTnT) has recently been reported to cause dilated cardiomyopathy (DCM), following the first report of a DCM-causing deletion mutation DeltaK210. 14654368 2003
dbSNP: rs74315379
rs74315379
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1449563
Disease:
Cardiomyopathy, Familial Idiopathic
0.020 GeneticVariation BEFREE We generated a gene-targeted knock-in murine model of the autosomal dominant Arg141Trp (R141W) mutation in Tnnt2, which was first described in a human family with DCM. 27936050 2016
dbSNP: rs74315380
rs74315380
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1449563
Disease:
Cardiomyopathy, Familial Idiopathic
0.020 GeneticVariation BEFREE We generated a gene-targeted knock-in murine model of the autosomal dominant Arg141Trp (R141W) mutation in Tnnt2, which was first described in a human family with DCM. 27936050 2016
dbSNP: rs74315380
rs74315380
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1449563
Disease:
Cardiomyopathy, Familial Idiopathic
0.020 GeneticVariation BEFREE A missense mutation R141W in the strong tropomyosin-binding region of cardiac troponin T (cTnT) has recently been reported to cause dilated cardiomyopathy (DCM), following the first report of a DCM-causing deletion mutation DeltaK210. 14654368 2003
dbSNP: rs1060500235
rs1060500235
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0878544
Disease:
Cardiomyopathies
0.010 GeneticVariation BEFREE Two novel variants in cardiomyopathy-related genes were identified: c.247 A > C; p.N83H in the Troponin T Type 2 gene (TNNT2) and c.2863G > A; p.D955N in the Myosin Heavy Polypeptide 7 gene (MYH7). 28642161 2017
dbSNP: rs121964856
rs121964856
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0745103
Disease:
Hyperlipoproteinemia Type IIa
0.010 GeneticVariation BEFREE Similar to a mouse FHC model expressing a truncated cTnT protein, the left ventricles of all R92Q lines are smaller than those of wild-type. 10449439 1999
dbSNP: rs121964856
rs121964856
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C4551472
Disease:
Hypertrophic obstructive cardiomyopathy
0.010 GeneticVariation BEFREE Expression of a mutant (Arg92Gln) human cardiac troponin T, known to cause hypertrophic cardiomyopathy, impairs adult cardiac myocyte contractility. 9201030 1997
dbSNP: rs121964856
rs121964856
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C3825201
Disease:
Mitochondrial pathology
0.010 GeneticVariation BEFREE In striking contrast to truncation mice, however, the R92Q hearts demonstrate significant induction of atrial natriuretic factor and beta-myosin heavy chain transcripts, interstitial fibrosis, and mitochondrial pathology. 10449439 1999
dbSNP: rs121964856
rs121964856
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0878544
Disease:
Cardiomyopathies
0.010 GeneticVariation BEFREE Of 180 families with genetically studied cardiomyopathies, 21 families (11.7%) were identified as having mutations in TNNT2: 10 families had Arg92Gln, 5 had Arg286His, 3 had Arg278Cys, 1 had Arg92Trp, 1 had Arg94His, and 1 had Ile221Thr. 26507537 2016