COL17A1, collagen type XVII alpha 1 chain, 1308

N. diseases: 138; N. variants: 28
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.050 Biomarker group BEFREE We predict that future studies of gliptin-associated BP will offer valuable information concerning autoimmunity against BP180 and may also shed light on the pathology of autoimmune diseases in general. 30904079 2019
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.050 Biomarker group BEFREE BP180 Is Critical in the Autoimmunity of Bullous Pemphigoid. 29276517 2017
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.050 Biomarker group BEFREE In a patient with dysregulation of Th1/Th2 balance, anergy is lost and T-cells are subsequently primed resulting in the development of functional autoimmunity against the BP180-NC16a domain leading to clinically overt disease. 28101965 2017
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.050 Biomarker group BEFREE Given the critical role of hemidesmosomes in maintaining epithelial integrity, we sought to investigate the distribution of BP180 in nasal tissue and evaluate for evidence of systemic autoimmunity against this antigen in CRS. 24167818 2013
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.050 Biomarker group BEFREE In BP, the antigens involved in the autoimmunity are epidermal basement membrane peptides BPAg1 and BPAg2. 8710911 1996