COL17A1, collagen type XVII alpha 1 chain, 1308

N. diseases: 138; N. variants: 28
Disease: Eosinophilic spongiosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0406653
Disease: Eosinophilic spongiosis
Eosinophilic spongiosis 		0.010 Biomarker disease BEFREE Diagnosis relies on (1) the histopathological evaluation demonstrating eosinophilic spongiosis or a subepidermal detachment with eosinophils; (2) the detection of IgG and/or C3 deposition at the basement membrane zone using direct or indirect immunofluorescence assays; and (3) quantification of circulating autoantibodies against BP180 and/or BP230 using ELISA. 31090818 2019