DSC2, desmocollin 2, 1824

N. diseases: 81; N. variants: 28
Disease: Hypertrophic disorder of skin, unspecified ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0263630
Disease: Hypertrophic disorder of skin, unspecified
Hypertrophic disorder of skin, unspecified 		0.010 GeneticVariation group BEFREE We report the case of a master athlete carrying trigenic mutations in desmoglein-2 (DSG2), desmocollin-2 (DSC2) and heavy chain myosin 6 (MYH6), which determine a mild hypertrophic phenotype associated both to ventricular tachyarrhythmias and atrio-ventricular block. 30716529 2020