DSG1, desmoglein 1, 1828

N. diseases: 81; N. variants: 13
Disease: Skin Diseases, Genetic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037277
Disease: Skin Diseases, Genetic
Skin Diseases, Genetic 		0.010 GeneticVariation group BEFREE We studied a new case of SAM syndrome known to have no mutations in DSG1 to detail the clinical, histopathologic, immunofluorescent, and ultrastructural phenotype and to identify the underlying molecular mechanisms in this rare genodermatosis. 26073755 2015