Source: ALL
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 | CLINVAR | Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. | 27532257 | 2017 | ||||
|
0.700 | GeneticVariation | disease | CLINVAR | Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. | 25611685 | 2015 | ||||
|
0.700 | GeneticVariation | disease | CLINVAR | Genetics of hypertrophic cardiomyopathy in Norway. | 24111713 | 2014 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Infantile hypertrophic cardiomyopathy associated with a novel MYL3 mutation. | 23594557 | 2013 | ||||
|
0.700 | GeneticVariation | disease | CLINVAR | Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study. | 16754800 | 2006 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. | 12707239 | 2003 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology. | 12021217 | 2002 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. | 8673105 | 1996 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | |||||||
|
0.700 | Biomarker | disease | CTD_human |