COL17A1, collagen type XVII alpha 1 chain, 1308

N. diseases: 138; N. variants: 28
Disease: Bullous Dermatitis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085932
Disease: Bullous Dermatitis
Bullous Dermatitis 		0.020 Biomarker group BEFREE Bullous pemphigoid (BP), the most frequent autoimmune bullous disorder, is a paradigmatic autoantibody-mediated disease associated with autoantibodies against BP180 (type XVII collagen, Col17). 29599777 2018
CUI: C0085932
Disease: Bullous Dermatitis
Bullous Dermatitis 		0.020 GeneticVariation group BEFREE Bullous pemphigoid, the most common autoimmune subepidermal bullous disorder, is associated with autoantibodies targeting antigenic sites clustered within the extracellular domain of BP180. 12445194 2002