DSG1, desmoglein 1, 1828

N. diseases: 81; N. variants: 13
Disease: Skin lesion ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037284
Disease: Skin lesion
Skin lesion 		0.030 GeneticVariation group BEFREE Some patients with severe dermatitis, multiple allergies, and metabolic wasting (SAM) syndrome, caused by biallelic desmoglein 1 (DSG1) mutations, exhibit skin lesions reminiscent of erythrokeratodermia variabilis, caused by mutations in connexin (Cx) genes. 31465738 2020
CUI: C0037284
Disease: Skin lesion
Skin lesion 		0.030 Biomarker group BEFREE Pemphigus foliaceus (PF) is a complex autoimmune disease characterized by bullous skin lesions and the presence of antibodies against desmoglein 1. 24813052 2014
CUI: C0037284
Disease: Skin lesion
Skin lesion 		0.030 Biomarker group BEFREE The mucosal blister-producing PV variant is characterized by autoantibodies against desmoglein (Dsg)3, whereas mucosal and skin lesion-producing PV is characterized by autoantibodies to Dsg3 and Dsg1. 17442983 2007