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: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE <b>Conclusion:</b> Development of anti-BP180 autoantibodies occurs at a higher frequency after stroke, suggesting BP180 as a relatively common autoantigen after stroke and providing novel insights into BP pathogenesis in aging. 30863396 2019
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE Bullous pemphigoid (BP) is an IgG-mediated autoimmune blistering disease that targets the hemidesmosomal proteins BP230 and BP180. 15725571 2005
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE Bullous pemphigoid (BP) is an autoimmune bullous disease mostly associated with autoantibodies to the hemidesmosomal BP autoantigens BP180 and BP230. 16403098 2006
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE Bullous pemphigoid (BP) is a subepidermal autoimmune disease characterized by a humoral response to an epidermal basement membrane (BM) component, BP antigen 2 (BPAG2). 19812601 2010
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE Bullous pemphigoid (BP) is an autoimmune blistering skin disorder characterized by circulating serum IgG antibodies against two hemidesmosomal proteins: BP180 and BP230. 27709645 2017
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE Bullous pemphigoid (BP) is the most common autoimmune blistering disease and is linked to IgG recognition of 2 hemidesmosomal antigens, that is, BP230 (BP antigen 1) and BP180 (BP antigen 2, collagen XVII). 28101965 2017
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE Bullous pemphigoid (BP) is an autoimmune bullous disease of the skin characterized by subepidermal blister formation due to tissue-bound and circulating autoantibodies to the hemidesmosomal antigens BP180 and BP230. 28135772 2017
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE Bullous pemphigoid (BP) is an autoimmune blistering dermatosis of the elderly with autoimmunity to hemidesmosomal proteins, BP180 and BP230, which are expressed also in neuronal tissue. 28261030 2017
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE Bullous pemphigoid (BP) is an autoimmune bullous disease caused by autoantibodies against BP180 in the epidermal basement membrane. 28273946 2017
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE Bullous pemphigoid (BP) is the most common autoimmune blistering disease, and is associated with autoantibodies to the hemidesmosomal BP autoantigens BPAG1 and BPAG2. 28590036 2017
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE Bullous pemphigoid (BP) is the most common autoimmune subepidermal blistering skin disease and is characterized by the presence of autoantibodies directed against the hemidesmosomal proteins BP180 and BP230 that can be detected in the skin and serum of BP patients. 28833620 2017
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE Bullous pemphigoid (BP) is an acquired autoimmune blistering disease in which autoantibodies against epitopes in the basement membrane zone of the skin such as BP180 or BP230 are produced. 29411416 2018
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease 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: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE Bullous pemphigoid (BP) is a subepidermal blistering disease characterized by autoantibodies against the two hemidesmosomal proteins, BP180 (type XVII collagen) and BP230. 29607480 2018
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE Bullous pemphigoid (BP) is a common autoimmune blistering disease in which autoantibodies mainly target the hemidesmosomal component BP180 (also known as type XVII collagen) in basal keratinocytes. 29706950 2018
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE Bullous pemphigoid (BP) is an autoimmune blistering disease associated with autoantibodies against BP180 and/or BP230 antigens. 31603994 2020
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE Bullous pemphigoid (BP) is the most prevalent autoimmune skin blistering disease and is characterized by the generation of autoantibodies against the hemidesmosomal proteins BP180 (type XVII collagen) and BP230. 31824475 2019
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE Bullous pemphigoid antigen 2 (BPAG2) is targeted by autoantibodies in patients with bullous pemphigoid (BP), and absent in patients with one type of epidermolysis bullosa (OMIM #226650). 17657247 2007
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 AlteredExpression disease BEFREE BPAG2 is physiologically and aberrantly expressed in neuronal tissue and internal malignancies, and the associations of BP with Parkinson's disease, stroke and internal malignancies invites new investigations into the immunological dysregulation behind the comorbidity. 26603373 2016
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE BP 180 was the commonest positive substrate in pemphigoid (95%) with 78% sensitivity. 31211701 2019
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE A novel chemiluminescent enzyme immunoassay (CLEIA) was recently developed to quantify autoantibodies specific for desmogleins (Dsgs) and BP180, the target antigens of pemphigus and pemphigoid. 28012821 2017
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE A strong antigenic relationship between the 120-kDa protein and the 180-kDa bullous pemphigoid antigen (BP180) was detected by cross-reaction of affinity-purified anti-120-kDa BP patient antibodies to BP180 and cross-reaction of monoclonal anti-180-kDa antibodies to the 120-kDa protein. 9077469 1997
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE A subpopulation of patients with Alzheimer's disease or Parkinson's disease have circulating IgG autoantibodies against BP180, but currently their significance for the development of BP is unclear, because these antineural BP180 antibodies neither bind to the cutaneous basement membrane nor cause BP-like symptoms. 28677172 2017
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE Animal models of BP were developed by passively transferring anti-BP180 IgG into mice, which recapitulates the key features of human BP. 29545809 2018
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 GeneticVariation disease BEFREE As demonstrated in vitro, 92-kD gelatinase cleaved the extracellular, collagenous domain of recombinant 180-kD BP autoantigen (BP180, BPAG2, HD4, type XVII collagen), a transmembrane molecule of the epidermal hemidesmosome. 8182134 1994