TNNI3, troponin I3, cardiac type, 7137

N. diseases: 159; N. variants: 50
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516347
rs397516347
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C1860752
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		0.700 GeneticVariation UNIPROT Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. 16199542 2005
dbSNP: rs397516347
rs397516347
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C1860752
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		0.700 GeneticVariation UNIPROT Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239 2003
dbSNP: rs397516347
rs397516347
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C1860752
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		0.700 GeneticVariation UNIPROT Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. 12974739 2003
dbSNP: rs397516347
rs397516347
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C1860752
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		0.700 GeneticVariation UNIPROT Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. 11815426 2002
dbSNP: rs397516347
rs397516347
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C1860752
Disease:
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 		0.700 GeneticVariation UNIPROT Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. 9241277 1997