TNNT2, troponin T2, cardiac type, 7139

N. diseases: 79; N. variants: 73
Disease: Cardiomyopathy, Dilated ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs74315380
rs74315380
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		A 0.720 GeneticVariation CLINVAR Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates. 22675533 2012
dbSNP: rs74315380
rs74315380
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		A 0.720 GeneticVariation CLINVAR Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. 21551322 2011
dbSNP: rs74315380
rs74315380
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		A 0.720 GeneticVariation CLINVAR Mutations in sarcomere protein genes in left ventricular noncompaction. 18506004 2008
dbSNP: rs74315380
rs74315380
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		A 0.720 GeneticVariation CLINVAR Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments. 17932326 2007
dbSNP: rs74315380
rs74315380
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		A 0.720 GeneticVariation CLINVAR Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype. 15923195 2005
dbSNP: rs74315380
rs74315380
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		A 0.720 GeneticVariation CLINVAR Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. 15542288 2004
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