Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.500 Biomarker CLINGEN Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction. 27625337

2016

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.500 Biomarker CLINGEN Proteomics. Tissue-based map of the human proteome. 25613900

2015

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.500 Biomarker CLINGEN Molecular mechanisms of sarcomere dysfunction in dilated and hypertrophic cardiomyopathy. 21297871

2011

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.500 Biomarker CLINGEN Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. 19608031

2009

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.500 Biomarker CLINGEN Truncation of titin's elastic PEVK region leads to cardiomyopathy with diastolic dysfunction. 19679835

2009

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.500 Biomarker CLINGEN Cardiac hypertrophy and reduced contractility in hearts deficient in the titin kinase region. 17261657

2007

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.500 Biomarker CLINGEN Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy. 15582318

2004

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.500 Biomarker CLINGEN Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene. 10462489

1999

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.500 Biomarker CLINGEN A molecular map of the interactions between titin and myosin-binding protein C. Implications for sarcomeric assembly in familial hypertrophic cardiomyopathy. 8631348

1996