Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7535
Gene Symbol: ZAP70
ZAP70
0.100 CausalMutation disease CLINVAR
Entrez Id: 3119
Gene Symbol: HLA-DQB1
HLA-DQB1
0.340 SusceptibilityMutation disease ORPHANET Bullous pemphigoid: etiology, pathogenesis, and inducing factors: facts and controversies. 23806156 2013
Entrez Id: 3119
Gene Symbol: HLA-DQB1
HLA-DQB1
0.340 SusceptibilityMutation disease ORPHANET A common major histocompatibility complex class II allele HLA-DQB1* 0301 is present in clinical variants of pemphigoid. 8710911 1996
Entrez Id: 667
Gene Symbol: DST
DST
0.100 AlteredExpression disease BEFREE We aimed to determine the diagnostic performance of anti-BP180 IgG and anti-BP230 IgG in BP, to correlate disease activity with autoantibody levels through follow-ups, and to relate BP comorbidities with disease activity and autoantibody levels. 31175713 2019
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
0.100 AlteredExpression disease BEFREE It is due to the formation of autoantibodies directed against different epitopes of bullous pemphigoid (BP) 180 as a consequence of the aberrant expression of BP180 in the placental tissue of genetically predisposed women. 30375213 2019
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
0.100 AlteredExpression disease BEFREE Our aims were two-fold: 1) To establish the clinical relationships between total and BP180-specific IgE, eosinophilia and other markers of disease activity; and 2) To determine if eosinophils from BP patients express the high affinity IgE receptor, FcεRI, as a potential mechanism of action for IgE in BP. 25255430 2014
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
0.100 AlteredExpression disease BEFREE We aimed to determine the diagnostic performance of anti-BP180 IgG and anti-BP230 IgG in BP, to correlate disease activity with autoantibody levels through follow-ups, and to relate BP comorbidities with disease activity and autoantibody levels. 31175713 2019
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
0.100 AlteredExpression disease BEFREE We have subsequently found several lines of evidence suggesting a significant role of IL-17A in the BP pathogenesis: (i) IL-17A activated human neutrophils in vitro, (ii) inhibition of dermal-epidermal separation in cryosections of human skin incubated with anti-BP180 IgG and subsequently with anti-IL-17A IgG-treated leukocytes, (iii) close correlation of serum IL-17A levels and diseases activity in a mouse model of BP, (iv) IL17A-deficient mice were protected against autoantibody-induced BP, and (v) pharmacological inhibition of lL-17A reduced the induction of BP in mice. 30219389 2019
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
0.100 AlteredExpression disease BEFREE Routine serological testing and follow-up of BP relies on indirect immunofluorescence (IIF) of serum Abs, commonly performed on monkey oesophagus (ME), and/or enzyme-linked immunosorbent assay (ELISA) testing on recombinantly produced fragments of BP180 and BP230 (BP180-NC16A, BP230-C/N). 30315657 2019
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
0.100 AlteredExpression disease LHGDN Correlation of clinical severity and ELISA indices for the NC16A domain of BP180 measured using BP180 ELISA kit in bullous pemphigoid. 15734283 2005
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
0.100 AlteredExpression disease BEFREE These patients' demographic characteristics and BP180 and BP230 levels were compared with those of a BP control group who were positive for BP180 or BP230 autoantibodies and had positive DIF study findings. 30928465 2019
Entrez Id: 667
Gene Symbol: DST
DST
0.100 AlteredExpression disease BEFREE In addition to the skin, the BP autoantigens BP180 and BP230 are expressed in the central nervous system. 28677172 2017
Entrez Id: 667
Gene Symbol: DST
DST
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
Entrez Id: 667
Gene Symbol: DST
DST
0.100 AlteredExpression disease BEFREE These patients' demographic characteristics and BP180 and BP230 levels were compared with those of a BP control group who were positive for BP180 or BP230 autoantibodies and had positive DIF study findings. 30928465 2019
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
0.100 AlteredExpression disease LHGDN Multicenter prospective study of the humoral autoimmune response in bullous pemphigoid. 18571472 2008
Entrez Id: 1803
Gene Symbol: DPP4
DPP4
0.100 AlteredExpression disease BEFREE To determine the effect of gliptins on the expression of the DPP-4/CD-26 protein we performed immunohistochemistry, which showed that the skin expression of DPP-4/CD-26 was increased in BP patients, but not affected by prior gliptin treatment. 30848289 2019
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
0.100 AlteredExpression disease BEFREE Immunohistochemistry showed strong TWEAK and Fn14 expression and implied an opposite relationship between the TWEAK and BP180 expression in skin samples from BP patients. 28351660 2017
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
0.100 AlteredExpression 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
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
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
Entrez Id: 4318
Gene Symbol: MMP9
MMP9
0.060 AlteredExpression disease BEFREE We here addressed the influence of serum and blister fluid (BF) from patients with BP on the polarization status of macrophages with regards to the metalloproteinase-9 (MMP-9) expression. 31440247 2019
Entrez Id: 3567
Gene Symbol: IL5
IL5
0.040 AlteredExpression disease BEFREE While no positive staining for IL-4 mRNA was detected in all BP subjects with in situ hybridization, IL-5 mRNA was documented in four BP specimens. 12413767 2002
Entrez Id: 3567
Gene Symbol: IL5
IL5
0.040 AlteredExpression disease BEFREE In the present study we evaluated the expression of mRNA for IL-4, IL-5, TGF-beta1, IFN-gamma in CP in comparison to bullous pemphigoid (BP) patients, investigating the role of cytokine profile as possible cause of the different disease evolution. 12558956 2003
Entrez Id: 51561
Gene Symbol: IL23A
IL23A
0.030 AlteredExpression disease BEFREE We further identified IL-17 and IL-23 as important molecules favoring IL-1β expression in monocyte-derived macrophages from BP patients. 31507596 2019
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
0.030 AlteredExpression disease BEFREE FOXP3 mRNA levels were significantly increased in the blood of patients with BP compared with HCs. 28590036 2017
Entrez Id: 6362
Gene Symbol: CCL18
CCL18
0.030 AlteredExpression disease BEFREE CCL18 expression is up-regulated in lesional skin of atopic dermatitis and bullous pemphigoid, suggesting its important roles in the development of these skin diseases. 22404649 2013