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 GeneticVariation disease BEFREE To begin to characterize the 230-kD bullous pemphigoid antigen (BPA) gene, we performed Southern analysis on genomic DNA with probes derived from 7 kb of cDNA that spans most of the coding region of this hemidesmosomal plaque protein. 1906508 1991
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 GeneticVariation disease BEFREE Mucous membrane pemphigoids (MMPs) and bullous pemphigoid (BP) are autoimmune bullous diseases that share physiopathological features: both can result from autoantibodies directed against BP180 or BP230 antigens. 29881377 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 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 LHGDN Experimental bullous pemphigoid generated in mice with an antigenic epitope of the human hemidesmosomal protein BP230. 15725571 2005
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 Southern hybridizations suggested that the BP antigen gene (BPAG1) is present as a single copy in the human genome. 2045679 1991
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE Two hemidesmosomal components are the bullous pemphigoid (BP) antigens: BP230 shows homology to desmoplakin, a desmosomal component; BP180 contains extracellular collagen domains. 8250577 1993
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 While historically BP has been characterized as an IgG driven disease mediated by anti-BP180 and BP230 IgG autoantibodies, developments in recent years have further elucidated the role of eosinophils and IgE autoantibodies. 30042946 2018
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE Collagen XVII and dystonin-e have been identified as target antigens.BP affects mostly the elderly. 28286109 2017
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE We have found an association between BP, ND and specific serologic profile characterized by higher levels of anti-BP180 and anti-BP230 (t(45)=2.319, p=0.025 and t(45)= 2.486, p=0.017, respectively), as compared to BP patients without ND. 30062977 2018
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE BPAG1 is an auto-antigen in the skin disease bullous pemphigoid (BP) and anti-BPAG1 auto-antibodies are detectable in sera from BP patients and are used for BP diagnosis. 20479946 2010
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE Two proteins, BP180 and BP230, have been identified as primary targets of autoantibodies in BP. 10379705 1999
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE These findings demonstrate that antibodies against BP230 can elicit the clinical and immunopathological features of BP in neonatal mice, suggesting that anti-BP230 antibodies may possibly play a pathogenic role in this disease. 15725571 2005
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 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 Instead, circulating autoantibodies directed to both collagen XVII, also named BP180, and BP230, are hallmarks of the autoimmune blistering disease bullous pemphigoid (BP). 31709656 2020
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 IgG and IgE autoantibodies against the hemidesmosomal antigens Bullous Pemphigoid (BP) 180 and BP230 are of pathogenic relevance, since autoantibody-antigen binding results in complement activation, immune cells infiltration, impaired hemidesmosomal function, and loss of dermal-epidermal adhesion. 30769277 2019
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE There are several lines of evidence indicating that the physiopathological bases of bullous pemphigoid (BP), the most common subepidermal autoimmune bullous disease, are hallmarked by the production of autoantibodies directed against the hemidesmosomal anchoring proteins BP180 and BP230. 31312206 2019
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 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 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 blistering skin disorder characterized by circulating serum IgG antibodies against two hemidesmosomal proteins: BP180 and BP230. 27709645 2017