| 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 | Biomarker | disease | GENOMICS_ENGLAND | Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. | 27532257 | 2017 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants. | 23299917 | 2013 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | How do MYBPC3 mutations cause hypertrophic cardiomyopathy? | 22057632 | 2012 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. | 21551322 | 2011 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. | 20215591 | 2010 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | The genetics of dilated cardiomyopathy. | 20186049 | 2010 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy. | 20433692 | 2010 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy. | 9048664 | 1997 | ||||
|
0.700 | Biomarker | disease | CTD_human | |||||||
|
0.700 | GeneticVariation | disease | CLINVAR |