JUP, junction plakoglobin, 3728

N. diseases: 81; N. variants: 10
Disease: Skin Abnormalities ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		0.010 GeneticVariation group BEFREE To date, two mutations in the gene encoding PG, JUP, have been described, and in both instances, patients harboring pathogenic mutations suffered from arrhythmogenic right ventricular cardiomyopathy with or without skin abnormalities. 20130592 2010