Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
0.600 Biomarker disease GENOMICS_ENGLAND Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. 30681346 2019
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
0.600 GeneticVariation disease CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
0.600 GeneticVariation disease CLINVAR Nonfamilial Hypertrophic Cardiomyopathy: Prevalence, Natural History, and Clinical Implications. 28408708 2017
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
0.600 CausalMutation disease CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
0.600 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, FAMILIAL RESTRICTIVE, 3 (disorder)
0.600 GeneticVariation disease CLINVAR Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy. 26914223 2016
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
0.600 CausalMutation disease CLINVAR Clinical and Prognostic Profiles of Cardiomyopathies Caused by Mutations in the Troponin T Gene. 26507537 2016
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
0.600 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, FAMILIAL RESTRICTIVE, 3 (disorder)
0.600 CausalMutation disease CLINVAR Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy. 26656454 2015
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
0.600 CausalMutation disease CLINVAR A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction. 24691700 2015
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
0.600 CausalMutation disease CLINVAR Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. 25524337 2014
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
0.600 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, FAMILIAL RESTRICTIVE, 3 (disorder)
0.600 CausalMutation disease CLINVAR Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. 24793961 2014
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
0.600 CausalMutation disease CLINVAR Allosteric effects of cardiac troponin TNT1 mutations on actomyosin binding: a novel pathogenic mechanism for hypertrophic cardiomyopathy. 24480310 2014
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
0.600 GeneticVariation disease CLINVAR Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy. 25031304 2014
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
0.600 CausalMutation disease CLINVAR Hypertrophic cardiomyopathy: one gene … but many phenotypes. 24792744 2014
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
0.600 CausalMutation disease CLINVAR Analysis of the molecular pathogenesis of cardiomyopathy-causing cTnT mutants I79N, ΔE96, and ΔK210. 23663841 2013
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
0.600 CausalMutation disease CLINVAR Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program. 23233322 2013
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
0.600 GeneticVariation disease CLINVAR Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. 23396983 2013
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
0.600 CausalMutation disease CLINVAR Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy. 24119082 2013
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
0.600 CausalMutation disease CLINVAR Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity. 23539503 2013
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
0.600 CausalMutation disease CLINVAR Usefulness of running wheel for detection of congestive heart failure in dilated cardiomyopathy mouse model. 23383212 2013
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
0.600 CausalMutation disease CLINVAR Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. 23396983 2013
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
0.600 GeneticVariation disease CLINVAR Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience. 23349452 2013
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder)
0.600 CausalMutation disease CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266 2013