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 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 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 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 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 To develop a new method to evaluate autoantibodies in various autoimmune bullous skin diseases, we examined reactivity of bullous pemphigoid (BP) and pemphigus vulgaris (PV) patients' sera with partial bacterial fusion proteins of the 230 kD BP antigen (BPAG1) and PV antigen, respectively, by an enzyme-linked immunosorbent assay (ELISA), and compared the results with those of immunoblotting. 7543794 1995
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 Sera from patients and controls with BP from the US and Japan were assayed for reactivity to intact BPAG1 and BPAG2 by immunoblot, and to fusion proteins encoded by BPAG1 by immunoblot and enzyme-linked immunosorbant assay (ELISA). 8884529 1996
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 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 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 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 BP230- and BP180-specific auto-antibodies in bullous pemphigoid. 15175032 2004
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 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 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 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 LHGDN Serum levels of IgE anti-BP180 and anti-BP230 autoantibodies in patients with bullous pemphigoid. 17920818 2008
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 The known antigens in BP are Bullous Pemphigoid Antigen 1 (BPAG1, also known as BP230), Bullous Pemphigoid Antigen 2 (BPAG2, also known as BP180), and subunits of human integrins α6 and β4. 21782980 2011
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE Our present findings demonstrate that antibodies against BP230 are non-pathogenic in experimental models of bullous pemphigoid and suggest that proper activation of the complement and granulocytes represent prerequisites for conferring bullous pemphigoid autoantibodies their tissue destructive potential. 24468586 2014
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 AlteredExpression disease BEFREE The BP autoantigens BP180 and BP230 are expressed in the cutaneous basement membrane and the central nervous system. 27650606 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
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
0.100 Biomarker disease BEFREE IgE autoantibodies to BP180 were found in 21 of 36 BP sera and IgE autoantibodies to BP230 were found in 18 of 36 BP sera. 27716903 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