Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7134
Gene Symbol: TNNC1
TNNC1
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 Biomarker CLINGEN Enhanced troponin I binding explains the functional changes produced by the hypertrophic cardiomyopathy mutation A8V of cardiac troponin C. 26976709

2016
Entrez Id: 7134
Gene Symbol: TNNC1
TNNC1
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 Biomarker CLINGEN The structural and functional effects of the familial hypertrophic cardiomyopathy-linked cardiac troponin C mutation, L29Q. 26341255

2015
Entrez Id: 7134
Gene Symbol: TNNC1
TNNC1
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 Biomarker CLINGEN The TNNC1-A8V proband diagnosed with severe obstructive hypertrophic cardiomyopathy at 34 years of age exhibited mild-to-moderate thickening in left and right ventricular walls, decreased left ventricular dimensions, left atrial enlargement, and hyperdynamic left ventricular systolic function. 26304555

2015
Entrez Id: 7134
Gene Symbol: TNNC1
TNNC1
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 Biomarker CLINGEN Genetic profile of hypertrophic cardiomyopathy in Tunisia: Is it different? 26779504

2015
Entrez Id: 7134
Gene Symbol: TNNC1
TNNC1
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 Biomarker CLINGEN Familial hypertrophic cardiomyopathy related cardiac troponin C L29Q mutation alters length-dependent activation and functional effects of phosphomimetic troponin I*. 24260207

2013
Entrez Id: 7134
Gene Symbol: TNNC1
TNNC1
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 Biomarker CLINGEN A mutation in TNNC1-encoded cardiac troponin C, TNNC1-A31S, predisposes to hypertrophic cardiomyopathy and ventricular fibrillation. 22815480

2012
Entrez Id: 7134
Gene Symbol: TNNC1
TNNC1
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 Biomarker CLINGEN Mutations in the Troponin C gene (TNNC1) are a rare genetic cause of hypertrophic cardiomyopathy. 21262074

2011
Entrez Id: 7134
Gene Symbol: TNNC1
TNNC1
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 Biomarker CLINGEN Predicting cardiomyopathic phenotypes by altering Ca2+ affinity of cardiac troponin C. 20566645

2010
Entrez Id: 7134
Gene Symbol: TNNC1
TNNC1
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 Biomarker CLINGEN Distinct troponin C isoform requirements in cardiac and skeletal muscle. 20925115

2010
Entrez Id: 7134
Gene Symbol: TNNC1
TNNC1
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 Biomarker CLINGEN Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C. 18572189

2008
Entrez Id: 7134
Gene Symbol: TNNC1
TNNC1
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 Biomarker CLINGEN Cardiac troponin C-L29Q, related to hypertrophic cardiomyopathy, hinders the transduction of the protein kinase A dependent phosphorylation signal from cardiac troponin I to C. 16302972

2005
Entrez Id: 7134
Gene Symbol: TNNC1
TNNC1
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.500 Biomarker CLINGEN First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy. 11385718

2001