DST, dystonin, 667

N. diseases: 147; N. variants: 19
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 Bullous pemphigoid (BP) is an acquired autoimmune skin disease, and its target antigens are a 230 kDa plaque protein (BP230) and a 180 kDa transmembrane protein with interrupted collagenous domains (BP180, type XVII collagen), which localize at the hemidesmosome. 10959044 2000
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 skin blistering disease characterized immunohistologically by dermal-epidermal junction (DEJ) separation, an inflammatory cell infiltrate in the upper dermis, and autoantibodies targeted toward the hemidesmosomal proteins BP230 and BP180. 17879094 2007
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 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) is an autoimmune bullous disease characterized by autoantibody production against BP180 and BP230. 29423547 2018
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE Bullous pemphigoid (BP) is an autoimmune and inflammatory skin disease associated with subepidermal blistering and autoantibodies directed against the hemidesmosomal components BP180 and BP230. 29545809 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 an autoimmune bullous skin disease characterized by anti-BP180 and anti-BP230 autoantibodies (AAbs). 29619029 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 target the hemidesmosomal components BP180 and/or BP230 in basal keratinocytes. 31191560 2019
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 BP230- and BP180-specific auto-antibodies in bullous pemphigoid. 15175032 2004
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE Although both its large size and poor solubility limit production of BP230, the developed yeast system provides cellular fractions enriched in BP230 recombinant proteins that constitute useful tools for the diagnosis of bullous pemphigoid. 12767802 2003
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE Although sera from almost all patients with BP react with the 230-kD BP antigen the specific epitope(s) of BPAg1 that IgG binds is not known. 7504025 1993
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE Among BPAG1 isoforms, BPAG1e is well studied because it was first identified as an autoantigen in patients with bullous pemphigoid, an autoimmune skin disease. 28736206 2017
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE As the BP autoantigen primary structures are known, the question was addressed as to whether it is possible to demonstrate circulating antibodies against BP autoantigens (BPAG1 and BPAG2) by means of an ELISA system, using antigenic epitopes. 10867809 2000
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE As the BPAG1 gene encodes the epithelial isoform of BP antigen 1 (BPAG1-e), a major autoantigen of BP, as well as additional variants expressed in the neurones of the CNS and peripheral nervous system and in Schwann cells, we tested the hypothesis that products of the BPAG1 gene act as shared autoantigens in both BP and MS. 15787824 2005
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE Autoantibodies present in the sera of patients with bullous pemphigoid (BP) bind to the basement membrane zone of normal human skin and commonly recognize two epidermal proteins, the BP240 and BP180 antigens. 1698819 1990
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE BP is immunologically characterized by tissue-bound and circulating autoantibodies directed against either the BP antigen 180 (BP180, or BPAG2) or the BP antigen 230 (BP230, or BPAG1e), or even both, which are components of hemidesmosomes involved in the dermal-epidermal cohesion. 28247089 2017