MCID: BLL006
MIFTS: 70

Bullous Pemphigoid malady

Rare diseases, Skin diseases, Immune diseases categories
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Summaries for Bullous Pemphigoid

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NIH Rare Diseases:42 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 pemphigoid, is related to pemphigus and epidermolysis bullosa, and has symptoms including eczema, urticaria and erythema/erythematous lesions/erythroderma/polymorphous erythema. An important gene associated with Bullous Pemphigoid is HLA-DRB1 (major histocompatibility complex, class II, DR 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:8 An autoimmune disease of skin and connective tissue characterized by large blisters.

Wikipedia:65 Bullous pemphigoid is an acute or chronic autoimmune skin disease, involving the formation of blisters,... more...

Aliases & Classifications for Bullous Pemphigoid

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 48Orphanet, 62UMLS, 46OMIM, 9diseasecard, 44Novoseek, 34MeSH, 57SNOMED-CT, 27ICD9CM, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
See all sources

Bullous Pemphigoid, Aliases & Descriptions:

Name: Bullous Pemphigoid 8 42 10 48 62
Pemphigoid 8 42 46
Senile Dermatitis Herpetiformis 42 62
Benign Pemphigus 42 62
Pemphigoid, Susceptibility to 9
 
Pemphigoid Bullous 44
Old Age Pemphigus 42
Pemphigoid Nos 8
Parapemphigus 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Skin diseases, Immune diseases
Orphanet: 48 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

48
bullous pemphigoid:
Prevalence: 1-9/100000; Age of onset: Variable


External Ids:

Disease Ontology8 DOID:8506
MeSH34 D010391
ICD9CM27 694.5
MESH via Orphanet35 D010391
ICD10 via Orphanet26 L12.0
UMLS via Orphanet63 C0030805
ICD1025 L12, L12.0, L12.9

Related Diseases for Bullous Pemphigoid

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

(show top 50)    (show all 261)
idRelated DiseaseScoreTop Affiliating Genes
1pemphigus32.1DST
2epidermolysis bullosa31.7ITGB4, DST, COL17A1, ITGA6
3epidermolysis bullosa acquisita31.6COL17A1, ITGB4, LAD1, DST
4herpes gestationis31.5COL17A1, RNASE3, DST
5pemphigus foliaceus31.5DST, HLA-DRB1
6skin disease31.4HLA-DRB1
7mucous membrane pemphigoid31.4COL17A1
8lichen planus31.2COL17A1, DST
9dermatitis herpetiformis31.1HLA-DQB1, CCL11
10epidermolysis bullosa simplex31.0DST, ITGB4, COL17A1
11pemphigus vulgaris31.0FCER2, DST, CCL11, HLA-DRB1
12ocular cicatricial pemphigoid31.0ITGB4, ITGA6
13junctional epidermolysis bullosa30.9COL17A1, ITGB4, ITGA6, DST
14conjunctivitis30.9RNASE3
15pneumonia30.7CCL11, IL5
16bullous skin disease30.7COL17A1, IL5, DST
17churg-strauss syndrome30.7IL5, RNASE3
18esophagitis30.4CCL26, IL5, CCL11
19chronic eosinophilic pneumonia30.3IL5, CCL11, RNASE3
20eosinophilic pneumonia30.3IL5, RNASE3, CCL11
21hypereosinophilic syndrome30.3RNASE3, CCL11, IL5
22psoriasis30.3IL5, CCL11, RNASE3, DST, SERPINF2, FCER2
23multiple sclerosis30.1CCL11, HLA-DQB1, HLA-DRB1, IL5
24eosinophilia30.0CCL13, IL5, CCL11, CCL26, RNASE3, FCER2
25keratoconjunctivitis29.9IL5, RNASE3, CCL11
26ulcerative colitis29.9CCL11, RNASE3, HLA-DRB1
27type 1 diabetes mellitus29.8HLA-DRB1, HLA-DQB1, CCL11
28rheumatoid arthritis29.7HLA-DQB1, HLA-DRB1, FCER2, CCL11, RNASE3
29sarcoidosis29.7CCL11, HLA-DRB1, HLA-DQB1, FCER2
30atopic dermatitis29.7ITGA6, CCL13, CCL11, FCER2, RNASE3, IL5
31respiratory failure29.6RNASE3, CCL11
32leukemia29.5ITGA6, RNASE3, SERPINF2, HLA-DRB1, FCER2, CCL11
33cicatricial pemphigoid10.8
34dermatitis10.8
35neurologic diseases10.6
36burns10.5
37paragonimiasis10.5IL5
38eosinophilia-myalgia syndrome10.5IL5
39strongyloidiasis10.5IL5
40gingivitis10.5
41lupus erythematosus10.5
42scabies10.5
43pemphigoid gestationis10.5
44junctional epidermolysis bullosa, non-herlitz type10.4ITGB4, COL17A1
45arthritis10.4
46hemophilia10.4
47acquired hemophilia10.4
48lichen planus pemphigoides10.4
49folliculitis10.4CCL11
50hepatitis10.4

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:

48 (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:

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Search NIH Clinical Center for Bullous Pemphigoid

Inferred drug relations via UMLS62/NDF-RT40:

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:

32
Skin, T cells, Testes, Breast, Neutrophil, B cells, Thyroid, Thymus, Brain, Liver, Colon, Lung, Prostate, Endothelial

Animal Models for Bullous Pemphigoid or affiliated genes

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MGI Mouse Phenotypes related to Bullous Pemphigoid:

36
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 805)
idTitleAuthorsYear
1
Childhood bullous pemphigoid: report of 2 cases. (25186446)
2014
2
Bullous pemphigoid: associations and management guidelines: facts and controversies. (23806157)
2013
3
IL-17 expression in dermatitis herpetiformis and bullous pemphigoid. (23970818)
2013
4
Childhood bullous pemphigoid. (24413516)
2013
5
Whole body application of a potent topical corticosteroid for bullous pemphigoid. (23551654)
2013
6
Association of pemphigus and bullous pemphigoid with thyroid autoimmunity in Caucasian patients. (23522419)
2013
7
Bullous pemphigoid: role of complement and mechanisms for blister formation within the lamina lucida. (23651418)
2013
8
A case report of bullous pemphigoid induced by dipeptidyl peptidase-4 inhibitors. (23426497)
2013
9
Perifollicular pigmentation in bullous pemphigoid: A diagnostic sign. (23130215)
2011
10
Chronic renal graft rejection-associated bullous pemphigoid: A cross-reactive immune response? (21088811)
2011
11
Acute zoster in known pemphigus vulgaris and bullous pemphigoid: avoiding the "disease flare" trap. (21571161)
2011
12
Bullous pemphigoid associated with chronic renal allograft rejection: resolution after transplantectomy. (21839308)
2011
13
Accuracy of indirect immunofluorescence on sodium chloride-split skin in the differential diagnosis of bullous pemphigoid and epidermolysis bullosa acquisita. (22016274)
2011
14
Dual targets for mouse mast cell protease-4 in mediating tissue damage in experimental bullous pemphigoid. (21880713)
2011
15
Bullous pemphigoid in a patient with suspected non-Herlitz junctional epidermolysis bullosa. (20456391)
2010
16
Prevalence of autoantibodies to bullous pemphigoid antigens within the normal population. (20083697)
2010
17
Ecthyma-gangrenosum-like bullous pemphigoid. (20689254)
2010
18
Favourable progression of acquired hemophilia-associated bullous pemphigoid. (19451049)
2009
19
Utility of an interferon-gamma release assay for latent tuberculosis diagnosis in a case of bullous pemphigoid. (19769839)
2009
20
Medication history of a series of patients with bullous pemphigoid from northern Greece - observations and discussion. (19200186)
2009
21
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
22
Localized flexural bullous pemphigoid. (19882021)
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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Expression patterns in normal tissues for genes affiliated with Bullous Pemphigoid

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Pathways for genes affiliated with Bullous Pemphigoid

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Pathways related to Bullous Pemphigoid according to GeneCards/GeneDecks:

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

(show top 50)    (show all 58)
idCompoundScoreTop Affiliating Genes
1glatiramer acetate44 1111.1IL5, HLA-DRB1
2mometasone furoate44 6110.9RNASE3, IL5
3levocabastine44 28 1111.9RNASE3, IL5
4kalinin449.8ITGA6, DST, ITGB4
5beclomethasone dipropionate449.8RNASE3, IL5
6toluene diisocyanate449.8IL5, RNASE3
7praziquantel44 1110.7RNASE3, IL5
8gliadin449.6RNASE3, HLA-DQB1
95-oxoete449.6CCL11, IL5
10roxithromycin44 28 1111.6CCL11, IL5
11azelastine44 1110.6IL5, RNASE3
12nedocromil sodium449.5IL5, FCER2, RNASE3
13ltd4449.5IL5, RNASE3
14anti-histamine449.3RNASE3, CCL11
15txb2449.3RNASE3, SERPINF2, FCER2
16glutamine449.2FCER2, HLA-DQB1, SERPINF2, IL5
17unicap449.1IL5, RNASE3, CCL11
18lte4449.1RNASE3, CCL11, IL5
19sodium cromoglycate449.1RNASE3, CCL11, IL5
20cetirizine44 28 24 1112.1CCL11, IL5, RNASE3
21pranlukast44 28 1111.1IL5, RNASE3, CCL11
22ketotifen44 1110.1IL5, RNASE3, CCL11
23salmeterol44 50 28 1112.1RNASE3, IL5, CCL11
24montelukast44 50 28 1112.1IL5, CCL11, RNASE3
25ltc4449.1CCL11, RNASE3, IL5
26budesonide44 50 1111.1IL5, RNASE3, CCL11
27fluticasone propionate44 50 61 1112.1CCL11, RNASE3, IL5
28pgd2449.1IL5, CCL11, RNASE3
29tarc449.1CCL11, CCL26, CCL13, IL5
30methacholine44 50 1111.0RNASE3, CCL11, IL5
31n-formylmethionyl-leucylphenylalanine449.0IL5, CCL11, RNASE3
32oligonucleotide449.0ITGA6, HLA-DQB1, HLA-DRB1, DST, RNASE3
33prednisolone44 28 1110.9RNASE3, CCL11, IL5
34herbimycin a44 619.8ITGA6, IL5, FCER2, CCL11
35salbutamol44 50 28 24 1112.7RNASE3, CCL11, FCER2, IL5
36leukotriene b444 61 2410.7CCL11, IL5, FCER2, RNASE3
37fmlp448.7FCER2, IL5, RNASE3, CCL11
38ionomycin448.6CCL11, IL5, FCER2
39allergens448.5FCER2, IL5, CCL11, RNASE3, HLA-DRB1
40pge2448.5FCER2, RNASE3, CCL11, IL5
41rantes448.4RNASE3, CCL11, CCL26, IL5, CCL13
42endotoxin448.4RNASE3, CCL11, SERPINF2
43histamine44 28 2410.4CCL11, IL5, RNASE3, FCER2, CCL13
44oxygen44 249.3SERPINF2, CCL11, ITGB4, CCL13, CCL26
45dexamethasone44 50 28 1111.3CCL13, RNASE3, CCL11, IL5, FCER2
46heparin44 28 24 1111.3IL5, SERPINF2, RNASE3, CCL11
47vegf448.0SERPINF2, ITGA6, CCL11, IL5, RNASE3
48retinoic acid44 248.8CCL11, FCER2, ITGA6, RNASE3, ITGB4, IL5
49tyrosine447.2ITGB4, HLA-DQB1, HLA-DRB1, FCER2, RNASE3, CCL11
50calcium44 50 24 1110.0RNASE3, CCL11, CCL26, DST, COL17A1, SERPINF2

GO Terms for genes affiliated with Bullous Pemphigoid

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Cellular components related to Bullous Pemphigoid according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1MHC class II protein complexGO:04261310.2HLA-DRB1, HLA-DQB1
2integral component of lumenal side of endoplasmic reticulum membraneGO:07155610.1HLA-DQB1, HLA-DRB1
3cell leading edgeGO:03125210.0ITGB4, DST
4clathrin-coated endocytic vesicle membraneGO:03066910.0HLA-DRB1, HLA-DQB1
5trans-Golgi network membraneGO:03258810.0HLA-DRB1, HLA-DQB1
6transport vesicle membraneGO:0306589.9HLA-DRB1, HLA-DQB1
7ER to Golgi transport vesicle membraneGO:0125079.7HLA-DRB1, HLA-DQB1
8basal plasma membraneGO:0099259.7DST, ITGA6, ITGB4
9external side of plasma membraneGO:0098979.5HLA-DRB1, FCER2, ITGA6
10hemidesmosomeGO:0300569.4COL17A1, ITGB4, ITGA6, DST
11basement membraneGO:0056049.1LAD1, DST, ITGA6, ITGB4, COL17A1
12extracellular spaceGO:0056158.0IGHG3, SERPINF2, CCL26, CCL11, CCL13, IL5
13extracellular regionGO:0055767.8IGHG3, SERPINF2, RNASE3, CCL11, IL5, COL17A1

Biological processes related to Bullous Pemphigoid according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1immunoglobulin production involved in immunoglobulin mediated immune responseGO:00238110.3HLA-DRB1, HLA-DQB1
2humoral immune response mediated by circulating immunoglobulinGO:00245510.2HLA-DQB1, HLA-DRB1
3cell motilityGO:04887010.0ITGB4, DST
4integrin-mediated signaling pathwayGO:0072299.7DST, ITGA6, ITGB4
5cell-matrix adhesionGO:0071609.7COL17A1, ITGB4, ITGA6
6cell junction assemblyGO:0343299.7ITGA6, ITGB4, COL17A1
7filopodium assemblyGO:0468479.6ITGA6, ITGB4
8eosinophil chemotaxisGO:0482459.5CCL11, CCL13
9hemidesmosome assemblyGO:0315819.5COL17A1, ITGB4, ITGA6, DST
10cytokine-mediated signaling pathwayGO:0192219.4IL5, HLA-DRB1, HLA-DQB1
11extracellular matrix organizationGO:0301989.4COL17A1, ITGB4, ITGA6, DST
12positive regulation of Rac GTPase activityGO:0328559.3CCL11, CCL26
13positive regulation of actin filament polymerizationGO:0308389.3CCL11, CCL26
14cytoskeleton organizationGO:0070109.2CCL13, CCL11, DST
15chemotaxisGO:0069359.1CCL26, CCL11, CCL13
16inflammatory responseGO:0069548.9IL5, CCL13, CCL11, CCL26
17immune responseGO:0069558.5HLA-DQB1, HLA-DRB1, CCL26, CCL11, CCL13, IL5

Molecular functions related to Bullous Pemphigoid according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MHC class II receptor activityGO:03239510.0HLA-DRB1, HLA-DQB1
2integrin bindingGO:0051789.0ITGA6, DST, FCER2
3chemokine activityGO:0080098.9CCL13, CCL11, CCL26

Products for genes affiliated with Bullous Pemphigoid

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Sources for Bullous Pemphigoid

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet