MCID: BLL006
MIFTS: 70

Bullous Pemphigoid malady

Skin diseases category

Summaries for Bullous Pemphigoid

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8Disease Ontology, 42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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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: Bullous Pemphigoid, also known as pemphigoid, is related to epidermolysis bullosa and pemphigus, and has symptoms including psoriasis, 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 Integrin Pathway and Akt Signaling. The drug sulfapyridine pwdr and the compounds tyrosine and calcium have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and breast, and related mouse phenotypes are hematopoietic system and immune system.

Disease Ontology:8 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...

Aliases & Classifications for Bullous Pemphigoid

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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 48Orphanet, 60UMLS, 46OMIM, 9diseasecard, 44Novoseek, 34MeSH, 56SNOMED-CT, 39NCIt, 27ICD9CM, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Skin diseases


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

bullous pemphigoid 8 42 10 48 60
pemphigoid 8 42 46
senile dermatitis herpetiformis 42 60
benign pemphigus 42 60
pemphigoid, susceptibility to 9
pemphigoid bullous 44
old age pemphigus 42
pemphigoid nos 8
parapemphigus 42


External Ids:

Disease Ontology8 DOID:8506
MeSH34 D010391
ICD9CM27 694.5
MESH via Orphanet35 D010391
ICD10 via Orphanet26 L12.0
SNOMED-CT via Orphanet57 77090002
UMLS via Orphanet61 C0030805
ICD1025 L12, L12.0, L12.9

Related Diseases for Bullous Pemphigoid

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17GeneCards, 18GeneDecks
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Diseases related to Bullous Pemphigoid via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 249)
idRelated DiseaseScoreTop Affiliating Genes
1epidermolysis bullosa31.3COL17A1, ITGB4, ITGA6, DST
2pemphigus31.3DST
3epidermolysis bullosa acquisita31.1COL17A1, ITGB4, DST, LAD1
4cicatricial pemphigoid31.1COL17A1, ITGB4, ITGA6, DST, LAD1
5dermatitis31.0IL5, IGHE, CCL11
6psoriasis31.0CCL11, HLA-DRB1, DST, RNASE3, IL5, FCER2
7dermatitis herpetiformis31.0CCL11, HLA-DQB1
8herpes gestationis31.0RNASE3, DST, COL17A1
9skin disease30.8RNASE3, IGHE, DST, ITGB4, CCL11, COL17A1
10bullous skin disease30.8IL5, DST, COL17A1
11lichen planus30.7DST, COL17A1
12junctional epidermolysis bullosa30.5COL17A1, ITGB4, ITGA6, DST
13arthritis30.5FCER2, HLA-DRB1
14hepatitis30.4CCL11
15epidermolysis bullosa simplex30.4DST, ITGB4, COL17A1
16systemic lupus erythematosus30.4CD22
17rheumatoid arthritis30.4CCL11, CCL8, HLA-DQB1, HLA-DRB1, RNASE3, FCER2
18multiple sclerosis30.4HLA-DQB1, HLA-DRB1
19ocular cicatricial pemphigoid30.4ITGA6, ITGB4
20eosinophilia30.3CCL11, CCL26, CCL13, IGHE, RNASE3, IL5
21pneumonia30.3IL5, CCL1, CCL11
22diabetes mellitus30.3HLA-DQB1, HLA-DRB1, LAD1
23chronic conjunctivitis30.1IGHE, FCER2
24atopic dermatitis30.1CCL11, CCL1, CCL13, ITGA6, IGHE, RNASE3
25eosinophilic pneumonia30.1CCL11, IGHE, RNASE3, IL5
26churg-strauss syndrome30.1IL5, RNASE3
27chronic eosinophilic pneumonia30.1IL5, RNASE3, CCL11
28conjunctivitis30.1IGHE, RNASE3
29esophagitis30.1IL5, CCL26, CCL11
30adenocarcinoma30.1ITGA6, ITGB4, CCL26
31leukemia30.1CCL11, CCL8, HLA-DRB1, ITGA6, CD22, RNASE3
32leprosy30.1HLA-DRB1
33sarcoidosis30.1FCER2, HLA-DRB1, HLA-DQB1, CCL11
34hepatitis b30.1HLA-DRB1, HLA-DQB1
35celiac disease30.1HLA-DQB1
36tuberculosis30.1HLA-DQB1, HLA-DRB1
37graves' disease30.1HLA-DRB1, HLA-DQB1
38keratoconjunctivitis29.7IL5, RNASE3, CCL11
39nephrotic syndrome29.7SERPINF2, CCL11
40respiratory failure29.7RNASE3, IGHE, CCL11
41neurologic diseases10.5
42burns10.5
43scabies10.5
44gingivitis10.4
45lupus erythematosus10.4
46squamous cell carcinoma10.4
47mucous membrane pemphigoid10.4
48pemphigoid gestationis10.3
49autoimmune thyroiditis10.3
50erythema multiforme10.3

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



Diseases related to bullous pemphigoid

Clinical Features for Bullous Pemphigoid

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48Orphanet
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Symptoms:

48 (show all 12)
  • psoriasis
  • 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
  • eczema

Drugs & Therapeutics for Bullous Pemphigoid

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Bullous Pemphigoid

Drug clinical trials:

Search ClinicalTrials for Bullous Pemphigoid

Search NIH Clinical Center for Bullous Pemphigoid

Search CenterWatch for Bullous Pemphigoid

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Bullous Pemphigoid

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Anatomical Context for Bullous Pemphigoid

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32MalaCards
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MalaCards organs/tissues related to Bullous Pemphigoid:

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

Animal Models for Bullous Pemphigoid or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Bullous Pemphigoid:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539710.6HLA-DQB1, ITGA6, DST, IGHE, CD22, IL5
2MP:000538710.3FCER2, COL17A1, CCL11, CCL1, HLA-DQB1, ITGB4

Publications for Bullous Pemphigoid

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50PubMed
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Articles related to Bullous Pemphigoid:

(show top 50)    (show all 805)
idTitleAuthorsYear
1
IL-17 expression in dermatitis herpetiformis and bullous pemphigoid. (23970818)
2013
2
Esophagitis dissecans superficialis presenting with massive haematemesis in a patient with bullous pemphigoid. (24283100)
2013
3
The approach of dermatologists in the UK to the treatment of bullous pemphigoid: results of a national survey. (23517364)
2013
4
Concurrence of autoantibodies to bullous pemphigoid antigens and desmoglein 3: analysis of pathogenic and nonpathogenic antibodies. (23738642)
2013
5
Bullous pemphigoid with prominent milium formation. (23683484)
2013
6
Bullous pemphigoid as pruritus in the elderly: a common presentation. (23804286)
2013
7
Clinical presentation and diagnostic delay in bullous pemphigoid: a prospective nationwide cohort. (22709136)
2012
8
Monoclonal antibody BP180 against bullous pemphigoid antigen-2 type XVII collagen. (22509921)
2012
9
Bullous pemphigoid associated with type 1 diabetes mellitus responsive to mycophenolate mofetil. (22168231)
2012
10
Evidence-based management of bullous pemphigoid. (21925006)
2011
11
Management of bullous pemphigoid with topical steroids in the clinical practice of a single center: outcome at 6 and 12 months. (21447939)
2011
12
Bullous pemphigoid and percutaneous endoscopic gastrostomy. (20519811)
2010
13
Anti-bullous pemphigoid 180 and 230 antibodies in a sample of unaffected subjects. (20083688)
2010
14
A novel active mouse model for bullous pemphigoid targeting humanized pathogenic antigen. (20089696)
2010
15
Bullous pemphigoid masquerading as recurrent vesicular hand eczema. (20107717)
2010
16
Potential role of interleukin-17 in the pathogenesis of bullous pemphigoid. (19945799)
2010
17
Immunotherapy: responsive autoimmune encephalopathy associated with bullous pemphigoid. (19917827)
2009
18
Coexistence of paraneoplastic pemphigus and bullous pemphigoid. (19207671)
2009
19
Role of methotrexate in the treatment of bullous pemphigoid in the elderly. (18665656)
2008
20
Repigmentation of the white hair after systemic corticosteroids for bullous pemphigoid. (18081750)
2008
21
Role of BP180NC16a-enzyme-linked immunosorbent assay (ELISA) in the diagnosis of bullous pemphigoid in China. (18173596)
2008
22
Expression of selected integrins and selectins in bullous pemphigoid. (17515951)
2007
23
The pathophysiology of bullous pemphigoid. (18094948)
2007
24
Bullous pemphigoid (BP) induced by radiotherapy. (17161480)
2007
25
Herpes gestationis in a mother and newborn: immunoclinical perspectives based on a weekly follow-up of the enzyme-linked immunosorbent assay index of a bullous pemphigoid antigen noncollagenous domain. (17875879)
2007
26
Treatment of bullous pemphigoid with enteric-coated mycophenolate sodium. (17373988)
2007
27
Bullous pemphigoid initially localized around a urostomy. (17076741)
2006
28
Differential roles for beta2 integrins in experimental autoimmune bullous pemphigoid. (16234355)
2006
29
Localisation of bullous pemphigoid antigen 180 (BP180) in cultured human keratinocytes: functionally relevant modification by calcium. (16906396)
2006
30
Role of FcRs in animal model of autoimmune bullous pemphigoid. (16920981)
2006
31
Concomitant psoriasis and bullous pemphigoid: coincidence or pathogenic relationship? (17076725)
2006
32
A case of bullous pemphigoid successfully treated by plasmapheresis: assessment of the change in titers of circulating antibodies by immunoblotting and enzyme-linked immunosorbent assay. (12707470)
2003
33
Benign symmetric lipomatosis in a Chinese man with bullous pemphigoid. (10192163)
1999
34
Internalization of the 180 kDa bullous pemphigoid antigen as immune complexes in basal keratinocytes: an important early event in blister formation in bullous pemphigoid. (9536225)
1998
35
Dermatitis herpetiformis and bullous pemphigoid: a developing association confirmed by immunoelectronmicroscopy. (9068744)
1997
36
Bullous pemphigoid and epidermolysis bullosa acquisita. Differentiation by fluorescence overlay antigen mapping. (8629822)
1996
37
A homozygous deletion mutation in the gene encoding the 180-kDa bullous pemphigoid antigen (BPAG2) in a family with generalized atrophic benign epidermolysis bullosa. (8618019)
1996
38
Tissue-specific expression of the 230-kDa bullous pemphigoid antigen gene (BPAG1). Identification of a novel keratinocyte regulatory cis-element KRE3. (7706309)
1995
39
Optimal conditions of 1 M NaCl splitting technique to demonstrate basement membrane zone antigens in bullous pemphigoid, epidermolysis bullosa acquisita and linear IgA bullous dermatoses. (8049556)
1994
40
Elevated serum levels of IgE-binding factor/soluble CD23 in bullous pemphigoid. (8060916)
1994
41
IgG antibodies from patients with bullous pemphigoid bind to fusion proteins encoded by BPAg1 cDNA. (7504025)
1993
42
The autoimmune blistering skin disease bullous pemphigoid. The presence of plasmin/alpha 2-antiplasmin complexes in skin blister fluid indicates plasmin generation in lesional skin. (7688770)
1993
43
An immunohistochemical study of the distribution of plasminogen and plasminogen activators in bullous pemphigoid. (8481985)
1993
44
Studies on complement deposits in epidermolysis bullosa acquisita and bullous pemphigoid. (1371212)
1992
45
Modulation of bullous pemphigoid antigens by gamma interferon in cultured human keratinocytes. (2109762)
1990
46
Isolation of a human epidermal cDNA corresponding to the 180-kD autoantigen recognized by bullous pemphigoid and herpes gestationis sera. Immunolocalization of this protein to the hemidesmosome. (1698819)
1990
47
Definition of bullous pemphigoid antibody binding to intracellular and extracellular antigen associated with hemidesmosomes. (2645368)
1989
48
Bullous pemphigoid and cicatricial pemphigoid: immunoblotting detection of involved autoantigens. (2491598)
1989
49
Chronic bullous disease of childhood, childhood cicatricial pemphigoid, and linear IgA disease of adults. A comparative study demonstrating clinical and immunopathologic overlap. (3056993)
1988
50
Bullous and cicatricial pemphigoid. Clinical, histopathologic, and immunopathologic correlations. (344998)
1977

Genetic Variations for Bullous Pemphigoid

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Expression for genes affiliated with Bullous Pemphigoid

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Bullous Pemphigoid

Search GEO for disease gene expression data for Bullous Pemphigoid.

Pathways for genes affiliated with Bullous Pemphigoid

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Sources:
51QIAGEN, 29KEGG, 37NCBI BioSystems Database, 12EMD Millipore, 53Reactome
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Pathways related to Bullous Pemphigoid according to GeneCards/GeneDecks:

(show all 23)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.6COL17A1, CCL11, CCL1, CCL26, CCL8, CCL13
2
Hide members
10.6CCL11, CCL1, CCL26, CCL8, CCL13, ITGB4
3
Hide members
10.6CCL11, CCL1, CCL26, CCL8, CCL13, ITGB4
4
Hide members
10.6CCL11, HLA-DQB1, HLA-DRB1, RNASE3, IL5
5
Hide members
10.6CCL1, CCL26, CCL8, CCL13, ITGB4, ITGA6
6
Hide members
10.6FCER2, ITGA6, ITGB4, HLA-DRB1, HLA-DQB1
710.5FCER2, IL5, IGHG3, IGHE, CCL26, CCL11
8
Hide members
10.5ITGA6, ITGB4, HLA-DRB1, HLA-DQB1
9
Hide members
10.5HLA-DQB1, HLA-DRB1, ITGA6, IL5
10
Hide members
10.5CCL11, IGHE, IGHG3, CD22, IL5, FCER2
11
Hide members
10.5DST, ITGA6, ITGB4, COL17A1
1210.5COL17A1, ITGB4, ITGA6, DST
13
Hide members
10.5COL17A1, ITGB4, ITGA6, DST
1410.5COL17A1, ITGB4, ITGA6, DST
15
Hide members
10.5CCL11, CCL1, CCL26, CCL8, CCL13, IL5
1610.5HLA-DRB1, ITGA6, CD22, IL5, FCER2
1710.5HLA-DQB1, HLA-DRB1, ITGA6, CD22
18
Hide members
10.5CCL11, CCL1, CCL26, CCL8, IL5
19
Hide members
10.5CCL13, CCL8, CCL26, CCL1, CCL11
20
Immune response NFAT in immune response
Hide members
10.5HLA-DQB1, HLA-DRB1, IGHE
2110.5COL17A1, ITGB4, ITGA6
22
Immune response CCR3 signaling in eosinophils
Hide members
10.5CCL11, CCL26, CCL8, CCL13
2310.5FCER2, ITGA6, ITGB4

Compounds for genes affiliated with Bullous Pemphigoid

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Sources:
44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB, 28IUPHAR, 59Tocris Bioscience
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Compounds related to Bullous Pemphigoid according to GeneCards/GeneDecks:

(show top 50)    (show all 59)
idCompoundScoreTop Affiliating Genes
1tyrosine4411.0COL17A1, CCL11, CCL8, HLA-DQB1, HLA-DRB1, ITGB4
2calcium44 49 11 2414.0COL17A1, CCL11, CCL1, CCL26, CCL8, CCL13
3allergens4411.0CCL11, HLA-DRB1, IGHE, RNASE3, IL5, FCER2
4tarc4411.0IL5, CCL11, CCL1, CCL26, CCL8, CCL13
5salbutamol44 49 28 11 2415.0CCL11, IGHE, RNASE3, IL5, FCER2
6unicap4411.0CCL11, IGHE, RNASE3, IL5
7sodium cromoglycate4411.0IL5, RNASE3, IGHE, CCL11
8cetirizine44 28 11 2414.0CCL11, IGHE, RNASE3, IL5
9ketotifen44 1112.0CCL11, IGHE, RNASE3, IL5
10nedocromil sodium4411.0IGHE, RNASE3, IL5, FCER2
11leukotriene b444 59 2413.0CCL11, CCL8, RNASE3, IL5, FCER2
12histamine44 28 2413.0CCL11, CCL13, IGHE, RNASE3, IL5, FCER2
13montelukast44 49 28 1113.9CCL11, IGHE, RNASE3, IL5
14rantes4410.9CCL11, CCL8, RNASE3
15budesonide44 49 1112.9IL5, RNASE3, IGHE, CCL11
16fluticasone propionate44 49 59 1113.9CCL11, IGHE, RNASE3, IL5
17oligonucleotide4410.9CCL1, HLA-DQB1, HLA-DRB1, ITGA6, DST, CD22
18pgd24410.9IL5, RNASE3, IGHE, CCL11
19beclomethasone dipropionate4410.9IGHE, RNASE3, IL5
20anti-histamine4410.9CCL11, IGHE, RNASE3
21methacholine44 1111.9CCL11, IGHE, RNASE3, IL5
22lte44410.9CCL11, RNASE3, IL5
23fmlp4410.9CCL11, CCL8, RNASE3, IL5, FCER2
24toluene diisocyanate4410.9IGHE, RNASE3, IL5
25kalinin4410.9DST, ITGA6, ITGB4
26ccl344 2811.9CCL11, CCL1, CCL26, CCL8
27pranlukast44 28 1112.9CCL11, RNASE3, IL5
28salmeterol44 49 28 1113.9CCL11, RNASE3, IL5
29praziquantel44 1111.9IL5, RNASE3, IGHE
30retinoic acid44 2411.9CCL11, ITGB4, ITGA6, IGHE, RNASE3, IL5
31azelastine44 1111.8IL5, RNASE3, IGHE
32prednisolone44 28 1112.8IL5, RNASE3, IGHE, CCL11
33heparin44 28 11 2413.8CCL11, CCL8, RNASE3
34ltc44410.8CCL11, RNASE3, IL5
35gliadin4410.8IGHE
36herbimycin a44 5911.8CCL11, ITGA6, IL5, FCER2
37dexamethasone44 49 28 1113.8CCL11, CCL13, IGHE, RNASE3, IL5, FCER2
38endotoxin4410.8RNASE3, CCL8
39glutamine4410.8HLA-DQB1, IGHE, IL5, FCER2, SERPINF2
40vegf4410.8CCL11, ITGA6, IGHE, RNASE3, IL5, SERPINF2
41txb24410.8SERPINF2, FCER2, RNASE3
42omalizumab44 1111.7IGHE, IL5
43mometasone furoate44 5911.7RNASE3, IL5
44n-formylmethionyl-leucylphenylalanine4410.7IL5, RNASE3, CCL11
45methotrexate44 49 1112.6HLA-DRB1, ITGA6, IGHE, IL5
46levocabastine44 28 1112.6IL5, RNASE3
47oxatomide4410.5IL5, IGHE
48tele-methylhistamine4410.5RNASE3, IGHE
49ccl444 2811.4CCL11, CCL1, CCL8
50capsaicin44 2811.2IL5, RNASE3, IGHE

GO Terms for genes affiliated with Bullous Pemphigoid

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16Gene Ontology
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Cellular components related to Bullous Pemphigoid according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hemidesmosomeGO:03005610.7DST, ITGA6, ITGB4, COL17A1
2basement membraneGO:00560410.7COL17A1, ITGB4, ITGA6, DST, LAD1
3extracellular spaceGO:00561510.6CCL11, CCL1, CCL26, CCL8, CCL13, IL5
4basal plasma membraneGO:00992510.5ITGB4, ITGA6, DST
5MHC class II protein complexGO:04261310.5HLA-DRB1, HLA-DQB1
6extracellular regionGO:00557610.5COL17A1, CCL11, IGHE, IGHG3, RNASE3, IL5
7external side of plasma membraneGO:00989710.2HLA-DRB1, ITGA6, CD22, FCER2

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1immune responseGO:00695510.9IL5, CCL11, CCL1, CCL26, CCL8, CCL13
2hemidesmosome assemblyGO:03158110.8COL17A1, ITGB4, ITGA6, DST
3chemotaxisGO:00693510.8CCL11, CCL1, CCL26, CCL8, CCL13
4inflammatory responseGO:00695410.8CCL11, CCL26, CCL8, CCL13, IL5
5cellular calcium ion homeostasisGO:00687410.8CCL13, CCL8, CCL1, CCL11
6immunoglobulin production involved in immunoglobulin mediated immune responseGO:00238110.7HLA-DRB1, HLA-DQB1
7humoral immune response mediated by circulating immunoglobulinGO:00245510.7HLA-DRB1, HLA-DQB1
8integrin-mediated signaling pathwayGO:00722910.7ITGB4, ITGA6, DST
9cell junction assemblyGO:03432910.7COL17A1, ITGB4, ITGA6
10cell-matrix adhesionGO:00716010.6COL17A1, ITGB4, ITGA6
11eosinophil chemotaxisGO:04824510.6CCL13, CCL11
12extracellular matrix organizationGO:03019810.5COL17A1, ITGB4, ITGA6, DST
13positive regulation of Rac GTPase activityGO:03285510.5CCL26, CCL11
14cytoskeleton organizationGO:00701010.4DST, CCL13, CCL11
15cell motilityGO:04887010.2DST, ITGB4

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

idNameGO IDScoreTop Affiliating Genes
1MHC class II receptor activityGO:03239510.5HLA-DRB1, HLA-DQB1
2chemokine activityGO:00800910.4CCL13, CCL8, CCL26, CCL1, CCL11
3integrin bindingGO:00517810.2ITGA6, DST, FCER2

Products for genes affiliated with Bullous Pemphigoid

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  • Antibodies
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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet