| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.900 | CausalMutation | disease | CLINVAR | Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy. | 20716751 | 2010 | ||||
|
0.900 | CausalMutation | disease | CLINVAR | A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy. | 19279339 | 2009 | ||||
|
0.900 | GeneticVariation | disease | UNIPROT | Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. | 20031617 | 2009 | ||||
|
0.900 | CausalMutation | disease | CLINVAR | Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity. | 19095136 | 2008 | ||||
|
0.900 | CausalMutation | disease | CLINVAR | Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. | 16917092 | 2006 | ||||
|
0.900 | GeneticVariation | disease | UNIPROT | Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations. | 15941723 | 2005 | ||||
|
0.900 | CausalMutation | disease | CLINVAR | Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy. | 16061754 | 2005 | ||||
|
0.900 | GeneticVariation | disease | UNIPROT | Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. | 12373648 | 2002 | ||||
|
0.900 | CausalMutation | disease | CLINVAR | Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. | 11063735 | 2000 | ||||
|
0.900 | CausalMutation | disease | CLINVAR | Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. | 10594734 | 1999 | ||||
|
0.900 | Biomarker | disease | MGD | |||||||
|
0.900 | Biomarker | disease | CTD_human |