| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. | 30681346 | 2019 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. | 21846512 | 2012 | ||||
|
0.700 | GeneticVariation | disease | CLINVAR | High prevalence of Arginine to Glutamine substitution at 98, 141 and 162 positions in Troponin I (TNNI3) associated with hypertrophic cardiomyopathy among Indians. | 22876777 | 2012 | ||||
|
0.700 | GeneticVariation | disease | CLINVAR | Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy. | 21511876 | 2011 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy. | 21533915 | 2011 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | The genetics of dilated cardiomyopathy. | 20186049 | 2010 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy. | 19590045 | 2009 | ||||
|
0.700 | GeneticVariation | disease | CLINVAR | Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences. | 15698845 | 2005 | ||||
|
0.700 | GeneticVariation | disease | CLINVAR | Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. | 15607392 | 2004 | ||||
|
0.700 | GeneticVariation | disease | CLINVAR | Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy. | 12860912 | 2003 | ||||
|
0.700 | Biomarker | disease | CTD_human | |||||||
|
0.700 | CausalMutation | disease | CLINVAR |