TNNT2, troponin T2, cardiac type, 7139

N. diseases: 79; N. variants: 73
Disease: CARDIOMYOPATHY, DILATED, 1D (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121964855
rs121964855
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease:
CARDIOMYOPATHY, DILATED, 1D (disorder) 		T 0.700 CausalMutation CLINVAR Analysis of the molecular pathogenesis of cardiomyopathy-causing cTnT mutants I79N, ΔE96, and ΔK210. 23663841 2013
dbSNP: rs121964855
rs121964855
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease:
CARDIOMYOPATHY, DILATED, 1D (disorder) 		T 0.700 CausalMutation CLINVAR Myosin cross-bridges do not form precise rigor bonds in hypertrophic heart muscle carrying troponin T mutations. 21683708 2011
dbSNP: rs121964855
rs121964855
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease:
CARDIOMYOPATHY, DILATED, 1D (disorder) 		T 0.700 CausalMutation CLINVAR Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology. 18651846 2008
dbSNP: rs121964855
rs121964855
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease:
CARDIOMYOPATHY, DILATED, 1D (disorder) 		T 0.700 CausalMutation CLINVAR Characterization of the two eIF4A-binding sites on human eIF4G-1. 11060291 2001
dbSNP: rs121964855
rs121964855
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease:
CARDIOMYOPATHY, DILATED, 1D (disorder) 		T 0.700 CausalMutation CLINVAR Inotropic stimulation induces cardiac dysfunction in transgenic mice expressing a troponin T (I79N) mutation linked to familial hypertrophic cardiomyopathy. 11113119 2001
dbSNP: rs121964855
rs121964855
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease:
CARDIOMYOPATHY, DILATED, 1D (disorder) 		T 0.700 CausalMutation CLINVAR Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy. 10617660 2000
dbSNP: rs121964855
rs121964855
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease:
CARDIOMYOPATHY, DILATED, 1D (disorder) 		T 0.700 CausalMutation CLINVAR Ca2+ sensitization and potentiation of the maximum level of myofibrillar ATPase activity caused by mutations of troponin T found in familial hypertrophic cardiomyopathy. 10085122 1999
dbSNP: rs121964855
rs121964855
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease:
CARDIOMYOPATHY, DILATED, 1D (disorder) 		T 0.700 CausalMutation CLINVAR Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. 8205619 1994