Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.900 Biomarker disease GENOMICS_ENGLAND Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. 30681346 2019
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.900 GeneticVariation disease CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.900 GeneticVariation disease CLINVAR Nonfamilial Hypertrophic Cardiomyopathy: Prevalence, Natural History, and Clinical Implications. 28408708 2017
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.900 CausalMutation disease CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.900 CausalMutation disease CLINVAR Clinical and Prognostic Profiles of Cardiomyopathies Caused by Mutations in the Troponin T Gene. 26507537 2016
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.900 GeneticVariation disease CLINVAR Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy. 26914223 2016
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.900 Biomarker disease MGD Gene-Targeted Mice with the Human Troponin T R141W Mutation Develop Dilated Cardiomyopathy with Calcium Desensitization. 27936050 2016
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.900 CausalMutation disease CLINVAR Mutations in troponin T associated with Hypertrophic Cardiomyopathy increase Ca(2+)-sensitivity and suppress the modulation of Ca(2+)-sensitivity by troponin I phosphorylation. 27036851 2016
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.900 CausalMutation disease CLINVAR Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy. 26656454 2015
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.900 CausalMutation disease CLINVAR A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction. 24691700 2015
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.900 CausalMutation disease CLINVAR Establishing disease causality for a novel gene variant in familial dilated cardiomyopathy using a functional in-vitro assay of regulated thin filaments and human cardiac myosin. 26498512 2015
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.900 CausalMutation disease CLINVAR Hypertrophic cardiomyopathy: one gene … but many phenotypes. 24792744 2014
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.900 GeneticVariation disease CLINVAR Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy. 25031304 2014
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.900 CausalMutation disease CLINVAR Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. 24793961 2014
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.900 CausalMutation disease CLINVAR Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. 25524337 2014
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.900 CausalMutation disease CLINVAR Allosteric effects of cardiac troponin TNT1 mutations on actomyosin binding: a novel pathogenic mechanism for hypertrophic cardiomyopathy. 24480310 2014
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.900 CausalMutation disease CLINVAR A novel arginine to tryptophan (R144W) mutation in troponin T (cTnT) gene in an indian multigenerational family with dilated cardiomyopathy (FDCM). 24992688 2014
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.900 CausalMutation disease CLINVAR Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. 23396983 2013
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.900 GeneticVariation disease CLINVAR Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience. 23349452 2013
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.900 CausalMutation disease CLINVAR Mutations in the cardiac troponin T gene show various prognoses in Japanese patients with hypertrophic cardiomyopathy. 23494605 2013
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.900 CausalMutation disease CLINVAR Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy. 24119082 2013
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.900 CausalMutation disease CLINVAR Usefulness of running wheel for detection of congestive heart failure in dilated cardiomyopathy mouse model. 23383212 2013
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.900 CausalMutation disease CLINVAR Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy. 24205113 2013
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.900 CausalMutation disease CLINVAR Analysis of the molecular pathogenesis of cardiomyopathy-causing cTnT mutants I79N, ΔE96, and ΔK210. 23663841 2013
CARDIOMYOPATHY, DILATED, 1D (disorder)
0.900 CausalMutation disease CLINVAR Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program. 23233322 2013