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: rs397516484
rs397516484
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease:
CARDIOMYOPATHY, DILATED, 1D (disorder) 		G 0.700 CausalMutation CLINVAR Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. 24793961 2014
dbSNP: rs397516484
rs397516484
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease:
CARDIOMYOPATHY, DILATED, 1D (disorder) 		G 0.700 CausalMutation CLINVAR Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. 23283745 2013
dbSNP: rs397516484
rs397516484
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease:
CARDIOMYOPATHY, DILATED, 1D (disorder) 		G 0.700 CausalMutation CLINVAR Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program. 23233322 2013
dbSNP: rs397516484
rs397516484
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease:
CARDIOMYOPATHY, DILATED, 1D (disorder) 		G 0.700 CausalMutation CLINVAR Defective dynamic properties of human cardiac troponin mutations. 20057144 2010
dbSNP: rs397516484
rs397516484
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease:
CARDIOMYOPATHY, DILATED, 1D (disorder) 		G 0.700 CausalMutation CLINVAR Low prevalence of cardiac troponin T mutations in a Greek hypertrophic cardiomyopathy cohort. 15958377 2005
dbSNP: rs397516484
rs397516484
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C1832243
Disease:
CARDIOMYOPATHY, DILATED, 1D (disorder) 		G 0.700 CausalMutation CLINVAR Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. 12974739 2003