Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 Biomarker CLINGEN Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 Biomarker CLINGEN We have sequenced all the exons, including the exon-intron boundaries of TNNI3 gene in 101 hypertrophic cardiomyopathy patients (HCM), along with 160 healthy controls, inhabited in the same geographical region of southern India. 22876777

2012
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 Biomarker CLINGEN Generation and functional characterization of knock-in mice harboring the cardiac troponin I-R21C mutation associated with hypertrophic cardiomyopathy. 22086914

2012
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 Biomarker CLINGEN Long-term outcome of 4 Korean families with hypertrophic cardiomyopathy caused by 4 different mutations. 20641121

2010
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 Biomarker CLINGEN Differential protein expression profiling of myocardial tissue in a mouse model of hypertrophic cardiomyopathy. 19715700

2010
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 Biomarker CLINGEN Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives. 19035361

2009
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 Biomarker CLINGEN Functional consequences of the human cardiac troponin I hypertrophic cardiomyopathy mutation R145G in transgenic mice. 18430738

2008
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 Biomarker CLINGEN Molecular insights from a novel cardiac troponin I mouse model of familial hypertrophic cardiomyopathy. 16950368

2006
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 Biomarker CLINGEN Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences. 15698845

2005
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 Biomarker CLINGEN Transgenic rabbit model for human troponin I-based hypertrophic cardiomyopathy. 15867176

2005
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 Biomarker CLINGEN Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. 15607392

2004
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 Biomarker CLINGEN The heightened Ca2+ sensitivity of force found with hypertrophic cardiomyopathy (HCM)-associated mutant cardiac troponin I (cTnIR145G; R146G in rodents) has been postulated to be an underlying cause of hypertrophic growth and premature sudden death in humans and in animal models of the disease. 12242271

2002
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 Biomarker CLINGEN Transgenic modeling of a cardiac troponin I mutation linked to familial hypertrophic cardiomyopathy. 11055985

2000
Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 Biomarker CLINGEN Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. 9241277

1997