JUP, junction plakoglobin, 3728

N. diseases: 81; N. variants: 10
Disease: Keratoderma, Palmoplantar ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.110 GeneticVariation disease BEFREE As a constituent of both types of intercellular junctions, plakoglobin has multiple interaction partners and mutations in its gene [junction plakoglobin (JUP)] have been associated with mild cutaneous disease, palmoplantar keratoderma and arrhythmogenic heart disease. 21320868 2011
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.110 Biomarker disease HPO