Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.900 Biomarker disease GENOMICS_ENGLAND Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. 30681346 2019
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.900 GeneticVariation disease CLINVAR Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment. 24113344 2014
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.900 GeneticVariation disease CLINVAR Homozygous mutation in the cardiac troponin I gene: clinical heterogeneity in hypertrophic cardiomyopathy. 23270746 2013
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.900 GeneticVariation disease CLINVAR High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort. 22429680 2012
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.900 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
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.900 GeneticVariation disease CLINVAR Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy. 21511876 2011
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.900 GeneticVariation disease CLINVAR Genetic screening and double mutation in Japanese patients with hypertrophic cardiomyopathy. 21799269 2011
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.900 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
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.900 Biomarker disease GENOMICS_ENGLAND The genetics of dilated cardiomyopathy. 20186049 2010
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.900 GeneticVariation disease UNIPROT Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling. 16199542 2005
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.900 GeneticVariation disease CLINVAR Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences. 15698845 2005
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.900 GeneticVariation disease CLINVAR Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. 15607392 2004
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.900 GeneticVariation disease CLINVAR Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy. 12860912 2003
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.900 GeneticVariation disease UNIPROT Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. 12974739 2003
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.900 GeneticVariation disease UNIPROT Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. 12707239 2003
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.900 GeneticVariation disease UNIPROT Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. 11815426 2002
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.900 GeneticVariation disease CLINVAR Functional consequences of the mutations in human cardiac troponin I gene found in familial hypertrophic cardiomyopathy. 11735257 2001
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.900 GeneticVariation disease CLINVAR Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy. 10806205 2000
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.900 GeneticVariation disease UNIPROT Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. 9241277 1997
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.900 Biomarker disease MGD
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.900 Biomarker disease CTD_human
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7
0.900 CausalMutation disease CLINVAR