MCID: BLL006
MIFTS: 60

Bullous Pemphigoid malady

Rare diseases, Skin diseases categories

Aliases & Classifications for Bullous Pemphigoid

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Sources:
9Disease Ontology, 41NIH Rare Diseases, 11DISEASES, 47Orphanet, 60UMLS, 10diseasecard, 43Novoseek, 38NCIt, 55SNOMED-CT, 33MeSH, 27ICD9CM, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Bullous Pemphigoid, Aliases & Descriptions:

Name: Bullous Pemphigoid 9 41 11 47 60
Senile Dermatitis Herpetiformis 41 60
Benign Pemphigus 41 60
Pemphigoid 9 41
Pemphigoid, Susceptibility to 10
 
Pemphigoid Bullous 43
Old Age Pemphigus 41
Pemphigoid Nos 9
Parapemphigus 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Skin diseases
Orphanet: 47 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

47
bullous pemphigoid:
Age of onset: All ages


External Ids:

Disease Ontology9 DOID:8506
MeSH33 D010391
ICD9CM27 694.5
Orphanet47 703
MESH via Orphanet34 D010391
ICD10 via Orphanet26 L12.0
UMLS via Orphanet61 C0030805
ICD1025 L12, L12.0, L12.9

Summaries for Bullous Pemphigoid

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NIH Rare Diseases:41 Bullous pemphigoid is a skin disorder characterized by large blisters. the blisters are usually located on the arms, legs, or middle of the body. about one-third of persons with bullous pemphigoid also develop blisters in the mouth. the blisters may break open and form ulcers or open sores. it usually occurs in elderly persons and is rare in young people. symptoms come and go. in most patients, the condition goes away within 6 years. the cause is not known, but may be related to immune system disorders. last updated: 4/28/2010

MalaCards based summary: Bullous Pemphigoid, also known as senile dermatitis herpetiformis, is related to pemphigus and cicatricial pemphigoid, and has symptoms including abnormality of the oral cavity, diabetes mellitus and eczema. An important gene associated with Bullous Pemphigoid is HLA-DQB1 (major histocompatibility complex, class II, DQ beta 1), and among its related pathways are Cytokines and Inflammatory Response and Epstein-Barr virus infection. The drug sulfapyridine pwdr and the compounds glatiramer acetate and mometasone furoate have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and testes, and related mouse phenotypes are digestive/alimentary and respiratory system.

Disease Ontology:9 An autoimmune disease of skin and connective tissue characterized by large blisters.

Wikipedia:63 Bullous pemphigoid is an acute or chronic autoimmune skin disease, involving the formation of blisters,... more...

Related Diseases for Bullous Pemphigoid

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Diseases related to Bullous Pemphigoid via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 244)
idRelated DiseaseScoreTop Affiliating Genes
1pemphigus32.1DST
2cicatricial pemphigoid32.1COL17A1
3epidermolysis bullosa31.7DST, ITGA6, ITGB4, COL17A1
4epidermolysis bullosa acquisita31.6LAD1, DST, ITGB4, COL17A1
5dermatitis31.5RNASE3, FCER2
6herpes gestationis31.5DST, RNASE3, COL17A1
7pemphigus foliaceus31.5DST, HLA-DRB1
8skin disease31.4HLA-DRB1
9lichen planus31.2DST, COL17A1
10dermatitis herpetiformis31.1HLA-DQB1, CCL11
11epidermolysis bullosa simplex31.1DST, ITGB4, COL17A1
12pemphigus vulgaris31.0HLA-DRB1, FCER2, DST, CCL11
13ocular cicatricial pemphigoid31.0ITGA6, ITGB4
14junctional epidermolysis bullosa30.9DST, ITGA6, ITGB4, COL17A1
15conjunctivitis30.9RNASE3
16pneumonia30.7CCL11, IL5
17bullous skin disease30.7DST, IL5, COL17A1
18churg-strauss syndrome30.7RNASE3, IL5
19esophagitis30.4CCL26, CCL11, IL5
20chronic eosinophilic pneumonia30.4IL5, CCL11, RNASE3
21eosinophilic pneumonia30.3RNASE3, CCL11, IL5
22hypereosinophilic syndrome30.3RNASE3, CCL11, IL5
23psoriasis30.2HLA-DRB1, FCER2, SERPINF2, DST, RNASE3, CCL11
24eosinophilia30.0FCER2, RNASE3, CCL26, CCL11, CCL13, IL5
25keratoconjunctivitis29.9RNASE3, CCL11, IL5
26ulcerative colitis29.9CCL11, RNASE3, HLA-DRB1
27melanoma29.8HLA-DRB1, DST, CCL11, ITGA6, ITGB4
28rheumatoid arthritis29.7HLA-DQB1, HLA-DRB1, FCER2, RNASE3, CCL11
29atopic dermatitis29.7FCER2, RNASE3, CCL11, CCL13, ITGA6, IL5
30respiratory failure29.6CCL11, RNASE3
31leukemia29.5HLA-DRB1, FCER2, SERPINF2, RNASE3, CCL11, ITGA6
32neurologic diseases10.6
33burns10.6
34scabies10.6
35paragonimiasis10.5IL5
36eosinophilia-myalgia syndrome10.5IL5
37gingivitis10.5
38strongyloidiasis10.5IL5
39lupus erythematosus10.5
40pemphigoid gestationis10.5
41arthritis10.4
42hepatitis10.4
43hemophilia10.4
44acquired hemophilia10.4
45lichen planus pemphigoides10.4
46epidermolysis bullosa, junctional, non-herlitz type10.4ITGB4, COL17A1
47systemic lupus erythematosus10.4
48erythema multiforme10.4
49thyroiditis10.4
50linear iga disease10.4

Graphical network of the top 20 diseases related to Bullous Pemphigoid:



Diseases related to bullous pemphigoid

Symptoms for Bullous Pemphigoid

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Symptoms:

 47 (show all 12)
  • eczema
  • urticaria
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • macules
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • negative nikolski's sign
  • enanthema/aphtosa/aphta/leukoplakia
  • diabetes mellitus
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • autoimmunity/autoimmune reaction/autoantibodies
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • psoriasis

HPO human phenotypes related to Bullous Pemphigoid:

(show all 9)
id Description Frequency HPO Source Accession
1 abnormality of the oral cavity hallmark (90%) HP:0000163
2 diabetes mellitus hallmark (90%) HP:0000819
3 eczema hallmark (90%) HP:0000964
4 urticaria hallmark (90%) HP:0001025
5 hypermelanotic macule hallmark (90%) HP:0001034
6 weight loss hallmark (90%) HP:0001824
7 autoimmunity hallmark (90%) HP:0002960
8 abnormal blistering of the skin hallmark (90%) HP:0008066
9 psoriasis typical (50%) HP:0003765

Drugs & Therapeutics for Bullous Pemphigoid

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Drug clinical trials:

Search ClinicalTrials for Bullous Pemphigoid

Search NIH Clinical Center for Bullous Pemphigoid

Inferred drug relations via UMLS60/NDF-RT39:

Genetic Tests for Bullous Pemphigoid

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Anatomical Context for Bullous Pemphigoid

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MalaCards organs/tissues related to Bullous Pemphigoid:

31
Skin, T cells, Testes, Breast, Neutrophil, B cells, Thyroid, Thymus, Brain, Liver, Eye, Colon, Lung, Prostate, Endothelial

Animal Models for Bullous Pemphigoid or affiliated genes

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MGI Mouse Phenotypes related to Bullous Pemphigoid:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.3IL5, ITGB4, ITGA6, DST, FCER2, HLA-DQB1
2MP:00053888.3IL5, ITGB4, ITGA6, CCL11, HLA-DQB1
3MP:00053877.3HLA-DQB1, FCER2, CCL11, ITGA6, ITGB4, IL5

Publications for Bullous Pemphigoid

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Articles related to Bullous Pemphigoid:

(show top 50)    (show all 824)
idTitleAuthorsYear
1
Prospective study of ocular manifestations of pemphigus and bullous pemphigoid identifies a high prevalence of dry eye syndrome. (25651493)
2015
2
Childhood bullous pemphigoid: report of 2 cases. (25186446)
2014
3
Bullous pemphigoid: associations and management guidelines: facts and controversies. (23806157)
2013
4
IL-17 expression in dermatitis herpetiformis and bullous pemphigoid. (23970818)
2013
5
Childhood bullous pemphigoid. (24413516)
2013
6
Whole body application of a potent topical corticosteroid for bullous pemphigoid. (23551654)
2013
7
Association of pemphigus and bullous pemphigoid with thyroid autoimmunity in Caucasian patients. (23522419)
2013
8
Bullous pemphigoid: role of complement and mechanisms for blister formation within the lamina lucida. (23651418)
2013
9
A case report of bullous pemphigoid induced by dipeptidyl peptidase-4 inhibitors. (23426497)
2013
10
Perifollicular pigmentation in bullous pemphigoid: A diagnostic sign. (23130215)
2011
11
Chronic renal graft rejection-associated bullous pemphigoid: A cross-reactive immune response? (21088811)
2011
12
Acute zoster in known pemphigus vulgaris and bullous pemphigoid: avoiding the "disease flare" trap. (21571161)
2011
13
Bullous pemphigoid associated with chronic renal allograft rejection: resolution after transplantectomy. (21839308)
2011
14
Accuracy of indirect immunofluorescence on sodium chloride-split skin in the differential diagnosis of bullous pemphigoid and epidermolysis bullosa acquisita. (22016274)
2011
15
Dual targets for mouse mast cell protease-4 in mediating tissue damage in experimental bullous pemphigoid. (21880713)
2011
16
Bullous pemphigoid in a patient with suspected non-Herlitz junctional epidermolysis bullosa. (20456391)
2010
17
Prevalence of autoantibodies to bullous pemphigoid antigens within the normal population. (20083697)
2010
18
Ecthyma-gangrenosum-like bullous pemphigoid. (20689254)
2010
19
Favourable progression of acquired hemophilia-associated bullous pemphigoid. (19451049)
2009
20
Utility of an interferon-gamma release assay for latent tuberculosis diagnosis in a case of bullous pemphigoid. (19769839)
2009
21
Medication history of a series of patients with bullous pemphigoid from northern Greece - observations and discussion. (19200186)
2009
22
Searching for foreign antigens as possible triggering factors of autoimmunity: Torque Teno virus DNA prevalence is elevated in sera of patients with bullous pemphigoid. (18400063)
2008
23
Childhood bullous pemphigoid in association with hyperimmunoglobulin E syndrome. (18304149)
2008
24
A new approach on bullous pemphigoid therapy. (18325915)
2008
25
Fatal bullous pemphigoid unresponsive to any therapeutic regimens. (17243967)
2007
26
Serum chemokine profile in patients with bullous pemphigoid. (17300233)
2007
27
Bullous pemphigoid associated with hypereosinophilic syndrome: simultaneous response to imatinib. (17097375)
2007
28
Furosemide-induced bullous pemphigoid: case report and review of literature. (16774111)
2006
29
Bullous pemphigoid initially localized around a urostomy. (17076741)
2006
30
Radiation therapy as a trigger factor for initially localized bullous pemphigoid. (16297104)
2005
31
Granulocyte-derived elastase and gelatinase B are required for dermal-epidermal separation induced by autoantibodies from patients with epidermolysis bullosa acquisita and bullous pemphigoid. (15538734)
2004
32
T cell receptor gene usage of BP180-specific T lymphocytes from patients with bullous pemphigoid and pemphigoid gestationis. (15451475)
2004
33
Memory B cells specific for the NC16A domain of the 180 kDa bullous pemphigoid autoantigen can be detected in peripheral blood of bullous pemphigoid patients and induced in vitro to synthesize autoantibodies. (12603849)
2003
34
Anti-glomerular basement membrane nephritis and bullous pemphigoid caused by distinct anti-alpha 3(IV)NC1 and anti-BP180 antibodies in a patient with Crohn's disease. (12200819)
2002
35
Increased tryptase and myeloperoxidase levels in blister fluids of patients with bullous pemphigoid: correlations with cytokines, adhesion molecules and anti-basement membrane zone antibodies. (10772387)
2000
36
Increased serum levels of interleukin (IL)-5, IL-6 and IL-8 in bullous pemphigoid. (9459128)
1998
37
Direct interaction between the intracellular domains of bullous pemphigoid antigen 2 (BP180) and beta 4 integrin, hemidesmosomal components of basal keratinocytes. (9500991)
1998
38
180-kDa bullous pemphigoid antigen defective generalized atrophic benign epidermolysis bullosa: report of four cases with an unusually mild phenotype. (9666835)
1998
39
Hemidesmosome formation is initiated by the beta4 integrin subunit, requires complex formation of beta4 and HD1/plectin, and involves a direct interaction between beta4 and the bullous pemphigoid antigen 180. (9660880)
1998
40
Bullous pemphigoid in an HB virus carrier: interaction between corticosteroids and HB virus. (9114616)
1997
41
Study of epitopic sites of the major bullous pemphigoid antigen (BPAg1)]. (7574105)
1995
42
A case of bullous pemphigoid with antibodies against intercellular 130 kd antigen. (7560455)
1995
43
Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa. (7550320)
1995
44
Primary cutaneous blastomycosis: report of a case acquired by direct inoculation of a bullous pemphigoid lesion. (8040417)
1994
45
Bullous pemphigoid in a 19-year-old woman. A case with unusual target antigens. (8123579)
1994
46
IgG antibodies from patients with bullous pemphigoid bind to fusion proteins encoded by BPAg1 cDNA. (7504025)
1993
47
Granulocyte activation in bullous diseases: release of granular proteins in bullous pemphigoid and pemphigus vulgaris. (8393016)
1993
48
HD4, a 180 kDa bullous pemphigoid antigen, is a major transmembrane glycoprotein of the hemidesmosome. (8514739)
1993
49
Comparative structural analysis of desmoplakin, bullous pemphigoid antigen and plectin: members of a new gene family involved in organization of intermediate filaments. (1390446)
1992
50
Direct immunofluorescence studies of sodium chloride-separated skin in the differential diagnosis of bullous pemphigoid and epidermolysis bullosa acquisita. (2180996)
1990

Variations for Bullous Pemphigoid

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Expression for genes affiliated with Bullous Pemphigoid

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Search GEO for disease gene expression data for Bullous Pemphigoid.

Pathways for genes affiliated with Bullous Pemphigoid

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Pathways related to Bullous Pemphigoid according to GeneCards Suite gene sharing:

(show all 23)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9IL5, HLA-DRB1
29.6HLA-DRB1, FCER2, HLA-DQB1
39.5ITGA6, HLA-DRB1, HLA-DQB1
49.4COL17A1, ITGB4, ITGA6
59.2FCER2, ITGB4, ITGA6
6
Show member pathways
9.2ITGB4, HLA-DRB1, HLA-DQB1, ITGA6
7
Show member pathways
9.2IL5, ITGA6, HLA-DRB1, HLA-DQB1
8
Show member pathways
9.2DST, ITGA6, ITGB4, COL17A1
9
Show member pathways
9.2ITGA6, COL17A1, ITGB4, DST
10
Show member pathways
9.2ITGA6, ITGB4, COL17A1, DST
11
Show member pathways
9.2ITGB4, COL17A1, DST, ITGA6
129.0ITGA6, IL5, FCER2, HLA-DRB1
13
Show member pathways
9.0CCL26, CCL11, CCL13
14
Show member pathways
9.0CCL13, CCL26, CCL11
15
Show member pathways
8.8ITGB4, ITGA6, FCER2, HLA-DQB1, HLA-DRB1
16
Show member pathways
8.6IL5, CCL13, CCL11, CCL26
178.3CCL26, IL5, CCL11, IGHG3, FCER2
18
Show member pathways
8.2IL5, CCL11, HLA-DQB1, RNASE3, HLA-DRB1
19
Show member pathways
8.2IL5, CCL13, CCL11, FCER2, CCL26
20
Show member pathways
7.9CCL13, ITGB4, ITGA6, COL17A1, CCL26, CCL11
21
Show member pathways
7.8CCL11, IL5, CCL13, ITGA6, ITGB4, CCL26
22
Show member pathways
7.8CCL13, ITGB4, CCL11, CCL26, IL5, ITGA6
23
Show member pathways
7.5CCL26, CCL11, CCL13, ITGA6, ITGB4, IL5

Compounds for genes affiliated with Bullous Pemphigoid

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Compounds related to Bullous Pemphigoid according to GeneCards Suite gene sharing:

(show top 50)    (show all 58)
idCompoundScoreTop Affiliating Genes
1glatiramer acetate43 1211.1IL5, HLA-DRB1
2mometasone furoate43 5910.9IL5, RNASE3
3levocabastine43 28 1211.9IL5, RNASE3
4kalinin439.8DST, ITGA6, ITGB4
5beclomethasone dipropionate439.8IL5, RNASE3
6toluene diisocyanate439.8IL5, RNASE3
7gliadin439.7HLA-DQB1, RNASE3
8praziquantel43 1210.7IL5, RNASE3
95-oxoete439.6IL5, CCL11
10roxithromycin43 28 1211.6CCL11, IL5
11nedocromil sodium439.5IL5, RNASE3, FCER2
12azelastine43 1210.5RNASE3, IL5
13ltd4439.5IL5, RNASE3
14anti-histamine439.3RNASE3, CCL11
15txb2439.3FCER2, SERPINF2, RNASE3
16glutamine439.2HLA-DQB1, FCER2, SERPINF2, IL5
17unicap439.1RNASE3, CCL11, IL5
18lte4439.1IL5, CCL11, RNASE3
19sodium cromoglycate439.1IL5, CCL11, RNASE3
20cetirizine43 28 24 1212.1IL5, CCL11, RNASE3
21pranlukast43 28 1211.1IL5, CCL11, RNASE3
22salmeterol43 49 28 1212.1RNASE3, CCL11, IL5
23ketotifen43 1210.1RNASE3, CCL11, IL5
24montelukast43 49 28 1212.1IL5, CCL11, RNASE3
25ltc4439.1RNASE3, CCL11, IL5
26budesonide43 49 1211.1RNASE3, CCL11, IL5
27fluticasone propionate43 49 59 1212.1IL5, CCL11, RNASE3
28pgd2439.1RNASE3, CCL11, IL5
29tarc439.1CCL26, CCL11, CCL13, IL5
30methacholine43 49 1211.0IL5, CCL11, RNASE3
31n-formylmethionyl-leucylphenylalanine439.0RNASE3, CCL11, IL5
32oligonucleotide439.0HLA-DQB1, HLA-DRB1, DST, RNASE3, ITGA6
33prednisolone43 28 1210.9IL5, CCL11, RNASE3
34herbimycin a43 599.8IL5, ITGA6, CCL11, FCER2
35salbutamol43 49 28 24 1212.7FCER2, RNASE3, CCL11, IL5
36leukotriene b443 59 2410.7FCER2, RNASE3, CCL11, IL5
37fmlp438.7FCER2, RNASE3, CCL11, IL5
38ionomycin438.6FCER2, CCL11, IL5
39pge2438.5IL5, CCL11, RNASE3, FCER2
40allergens438.5IL5, CCL11, RNASE3, FCER2, HLA-DRB1
41rantes438.4RNASE3, CCL26, CCL11, CCL13, IL5
42endotoxin438.4CCL11, RNASE3, SERPINF2
43histamine43 28 2410.4FCER2, RNASE3, CCL11, CCL13, IL5
44oxygen43 249.3SERPINF2, CCL26, CCL11, CCL13, ITGB4
45dexamethasone43 49 28 1211.3FCER2, RNASE3, CCL11, CCL13, IL5
46heparin43 28 24 1211.3SERPINF2, RNASE3, CCL11, IL5
47vegf438.0SERPINF2, RNASE3, CCL11, ITGA6, IL5
48retinoic acid43 248.8FCER2, RNASE3, CCL11, ITGA6, ITGB4, IL5
49tyrosine437.2HLA-DQB1, HLA-DRB1, FCER2, RNASE3, CCL11, ITGA6
50calcium43 49 24 1210.0FCER2, SERPINF2, DST, RNASE3, CCL26, CCL11

GO Terms for genes affiliated with Bullous Pemphigoid

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Cellular components related to Bullous Pemphigoid according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1MHC class II protein complexGO:004261310.2HLA-DRB1, HLA-DQB1
2integral component of lumenal side of endoplasmic reticulum membraneGO:007155610.1HLA-DQB1, HLA-DRB1
3cell leading edgeGO:003125210.0ITGB4, DST
4clathrin-coated endocytic vesicle membraneGO:003066910.0HLA-DRB1, HLA-DQB1
5trans-Golgi network membraneGO:003258810.0HLA-DRB1, HLA-DQB1
6transport vesicle membraneGO:00306589.9HLA-DRB1, HLA-DQB1
7ER to Golgi transport vesicle membraneGO:00125079.7HLA-DRB1, HLA-DQB1
8basal plasma membraneGO:00099259.7DST, ITGA6, ITGB4
9external side of plasma membraneGO:00098979.5HLA-DRB1, FCER2, ITGA6
10hemidesmosomeGO:00300569.4COL17A1, ITGB4, ITGA6, DST
11basement membraneGO:00056049.1LAD1, DST, ITGA6, ITGB4, COL17A1
12extracellular spaceGO:00056158.0IGHG3, SERPINF2, CCL26, CCL11, CCL13, IL5
13extracellular regionGO:00055767.8IGHG3, SERPINF2, RNASE3, CCL11, IL5, COL17A1

Biological processes related to Bullous Pemphigoid according to GeneCards Suite gene sharing:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1immunoglobulin production involved in immunoglobulin mediated immune responseGO:000238110.3HLA-DRB1, HLA-DQB1
2humoral immune response mediated by circulating immunoglobulinGO:000245510.2HLA-DQB1, HLA-DRB1
3cell motilityGO:004887010.0ITGB4, DST
4integrin-mediated signaling pathwayGO:00072299.7DST, ITGA6, ITGB4
5cell-matrix adhesionGO:00071609.7COL17A1, ITGB4, ITGA6
6cell junction assemblyGO:00343299.7ITGA6, ITGB4, COL17A1
7filopodium assemblyGO:00468479.6ITGA6, ITGB4
8eosinophil chemotaxisGO:00482459.5CCL11, CCL13
9hemidesmosome assemblyGO:00315819.5COL17A1, ITGB4, ITGA6, DST
10cytokine-mediated signaling pathwayGO:00192219.4IL5, HLA-DRB1, HLA-DQB1
11extracellular matrix organizationGO:00301989.4COL17A1, ITGB4, ITGA6, DST
12positive regulation of Rac GTPase activityGO:00328559.3CCL11, CCL26
13positive regulation of actin filament polymerizationGO:00308389.3CCL11, CCL26
14cytoskeleton organizationGO:00070109.2CCL13, CCL11, DST
15chemotaxisGO:00069359.1CCL26, CCL11, CCL13
16inflammatory responseGO:00069548.9IL5, CCL13, CCL11, CCL26
17immune responseGO:00069558.5HLA-DQB1, HLA-DRB1, CCL26, CCL11, CCL13, IL5

Molecular functions related to Bullous Pemphigoid according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1MHC class II receptor activityGO:003239510.0HLA-DRB1, HLA-DQB1
2integrin bindingGO:00051789.0ITGA6, DST, FCER2
3chemokine activityGO:00080098.9CCL13, CCL11, CCL26

Products for genes affiliated with Bullous Pemphigoid

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Sources for Bullous Pemphigoid

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3CDC
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14FMA
22GTR
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24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
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51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet