MCID: MCS003
MIFTS: 58

Mucous Membrane Pemphigoid malady

Skin diseases, Rare diseases categories

Summaries for Mucous Membrane Pemphigoid

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 Cicatricial pemphigoid (also known as \"Mucous Membrane Pemphigoid\", \"MMP\", \"Benign mucosal... more...

MalaCards: Mucous Membrane Pemphigoid, also known as pemphigoid, benign mucous membrane, is related to ocular cicatricial pemphigoid and cicatricial pemphigoid, and has symptoms including visual loss/blindness/amblyopia, corneal clouding/opacity/vascularisation and functional anomalies of the genital system. An important gene associated with Mucous Membrane Pemphigoid is COL17A1 (collagen, type XVII, alpha 1), and among its related pathways are Cell adhesion Endothelial cell contacts by non junctional mechanisms and Arf6 trafficking events. The compounds unicap and sodium cromoglycate have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and trachea, and related mouse phenotypes are hearing/vestibular/ear and renal/urinary system.

Description from OMIM:48 164185

Aliases & Classifications for Mucous Membrane Pemphigoid

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Sources:
50Orphanet, 48OMIM, 63UMLS, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Skin diseases
Orphanet: 50 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

50
mucous membrane pemphigoid:
Inheritance: Sporadic; Age of onset: Adulthood; Age of death: Normal


Aliases & Descriptions:

mucous membrane pemphigoid 50 48
pemphigoid, benign mucous membrane 63
mucosynechial pemphigoid 50
cicatricial pemphigoid 50
mucosal pemphigoid 50


External Ids:

SNOMED-CT via Orphanet60 34250006
OMIM48 164185
ICD10 via Orphanet27 L12.1

Related Diseases for Mucous Membrane Pemphigoid

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18GeneCards, 19GeneDecks
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Diseases related to Mucous Membrane Pemphigoid via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 143)
idRelated DiseaseScoreTop Affiliating Genes
1ocular cicatricial pemphigoid32.0ITGA6, ITGB4
2cicatricial pemphigoid31.4COL17A1
3pemphigus31.3CD79A, CDH3, DSG1
4pemphigus vulgaris30.9CDH1, CDH3, DSG1
5lichen planus30.9COL17A1, LAMC2
6bullous pemphigoid30.9ITGA6, COL17A1
7epidermolysis bullosa30.8LAMB3, LAMC2, ITGA6, COL17A1, ITGB4
8epidermolysis bullosa acquisita30.7DSG1, LAMC2, CD79A, ITGB4, COL17A1
9conjunctivitis30.7CD79A, IGHE
10herpes gestationis30.4COL17A1
11ovarian cancer30.4CDH1, ITGB4, ITGA6, COL17A1
12pancreatic cancer30.4CDH1, ITGA6, ITGB4, CDH3
13hepatocellular carcinoma30.3EIF6, CDH3, ITGA6, CDH1
14dermatitis herpetiformis30.3CD79A, HLA-DQB1
15adenocarcinoma30.3LAMC2, ITGA6, CDH1, CDH3, ITGB4
16respiratory failure30.2IL13, IGHE
17dermatitis30.2CD79A, IGHE, DSG1, IL13
18esophagitis10.7
19gingivitis10.7
20periodontitis10.6
21laryngitis10.6
22stevens-johnson syndrome10.6
23arthritis10.6
24rheumatoid arthritis10.6
25cataract10.5
26entropion10.5
27graft versus host disease10.4
28leukemia10.4
29linear iga disease10.4
30brunsting-perry syndrome10.4
31corneal ulcer10.3
32keratitis10.3
33lichen sclerosus10.3
34erythema multiforme10.2
35diphtheria10.2
36primary biliary cirrhosis10.2
37wegener's granulomatosis10.2
38sclerosing cholangitis10.2
39cholangitis10.2
40chronic lymphocytic leukemia10.2
41connective tissue disease10.2
42herpes simplex10.2
43hypertension10.2
44liver cirrhosis10.2
45lupus erythematosus10.2
46myasthenia gravis10.2
47pancreatitis10.2
48periodontal disease10.2
49prostatitis10.2
50renal cell carcinoma10.2

Graphical network of the top 20 diseases related to Mucous Membrane Pemphigoid:



Diseases related to mucous membrane pemphigoid

Symptoms for Mucous Membrane Pemphigoid

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Sources:
48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

164185

Clinical features from OMIM:

164185

Symptoms:

50 (show all 9)
  • visual loss/blindness/amblyopia
  • corneal clouding/opacity/vascularisation
  • functional anomalies of the genital system
  • abnormal scarring/cheloids/hypertrophic scars
  • gingivitis
  • autoimmunity/autoimmune reaction/autoantibodies
  • enanthema/aphtosa/aphta/leukoplakia
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis

Drugs & Therapeutics for Mucous Membrane Pemphigoid

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Mucous Membrane Pemphigoid

Drug clinical trials:

Search ClinicalTrials for Mucous Membrane Pemphigoid

Search NIH Clinical Center for Mucous Membrane Pemphigoid

Search CenterWatch for Mucous Membrane Pemphigoid

Genetic Tests for Mucous Membrane Pemphigoid

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Anatomical Context for Mucous Membrane Pemphigoid

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34MalaCards
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MalaCards organs/tissues related to Mucous Membrane Pemphigoid:

34
Skin, T cells, Trachea, Testes, Prostate, Thyroid, Liver, Eye

Animal Models for Mucous Membrane Pemphigoid or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Mucous Membrane Pemphigoid:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.7LAMC2, ITGA6, ITGB4, IL13
2MP:00053678.6HLA-DQB1, LAMC2, ITGA6, ITGB4, CD79A
3MP:00053798.3CDH1, CDH3, IL13, ITGA6, HLA-DQB1
4MP:00053888.2HLA-DQB1, LAMB3, LAMC2, ITGA6, ITGB4, IL13
5MP:00053817.7HLA-DQB1, LAMB3, LAMC2, ITGA6, ITGB4, IL13
6MP:00107717.7CDH1, LAMB3, LAMC2, ITGA6, ITGB4, IL13
7MP:00053847.2HLA-DQB1, ITGA6, ITGB4, IL13, EIF6, CD79A
8MP:00053877.0IGHE, HLA-DQB1, LAMC2, ITGA6, ITGB4, IL13
9MP:00107686.6HLA-DQB1, LAMB3, LAMC2, ITGA6, ITGB4, IL13

Publications for Mucous Membrane Pemphigoid

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Sources:
53PubMed
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Articles related to Mucous Membrane Pemphigoid:

(show top 50)    (show all 254)
idTitleAuthorsYear
1
Amlodipine as a cause of mucous membrane pemphigoid: first report of amlodipine as a causative agent in MMP. (24008928)
2013
2
Critical analysis of the use of rituximab in mucous membrane pemphigoid: a review of the literature. (23200198)
2013
3
Interleukin-4RA gene polymorphism is associated with oral mucous membrane pemphigoid. (23557074)
2013
4
Treatment of mucous membrane pemphigoid with mycophenolate mofetil. (23132447)
2013
5
Identification of epitopes within integrin I^4 for binding of auto-antibodies in ocular cicatricial and mucous membrane pemphigoid: preliminary report. (24130186)
2013
6
A Case of Mucous Membrane Pemphigoid Involving the Trachea and Bronchus with Autoantibodies to I^3 Subunit of Laminin-332. (23995302)
2013
7
Case of mucous membrane pemphigoid characterized by circulating immunoglobulin A and immunoglobulin G autoantibodies to the gamma-2 subunit of laminin-332. (22364356)
2012
8
Mucous membrane pemphigoid: do we really care about a more specific diagnosis? (22703909)
2012
9
Mucous membrane pemphigoid with generalized blisters: IgA and IgG autoantibodies target both laminin-332 and type XVII collagen. (22182184)
2012
10
Lichen planus-type chronic graft-versus-host disease complicated by mucous membrane pemphigoid with positive anti-BP180/230 and scleroderma-related autoantibodies followed by reduced regulatory T cell frequency. (22217601)
2012
11
Rituximab for patients with refractory mucous membrane pemphigoid. (21422323)
2011
12
Angioimmunoblastic T-cell lymphoma presenting with both IgA-related leukocytoclastic vasculitis and mucous membrane pemphigoid. (21489903)
2011
13
Therapeutic effect of etanercept in anti-laminin 5 (laminin 332) mucous membrane pemphigoid. (22126878)
2011
14
Rare case of asymptomatic mucous membrane pemphigoid. (21696532)
2011
15
Reciprocal altered expression of E-cadherin and P-cadherin in mucous membrane pemphigoid. (21781454)
2011
16
Pathogenesis of mucous membrane pemphigoid. (21605815)
2011
17
Anti-laminin-332 mucous membrane pemphigoid associated with recurrent metastatic prostate carcinoma: hypothesis for a paraneoplastic phenomenon. (21527374)
2011
18
Rituximab for severe mucous membrane pemphigoid: safe enough to be drug of first choice? (21768487)
2011
19
Mucous membrane pemphigoid with antibodies to the I^3 subunit of laminin 332. (21453313)
2011
20
The management of mucous membrane pemphigoid and pemphigus. (20597945)
2010
21
Benign mucous membrane pemphigoid concurrent with primary sclerosing cholangitis. (19405234)
2009
22
Oral Pathology Quiz #61. Case number 2. Mucous membrane pemphigoid. (19177962)
2008
23
Mucous membrane pemphigoid in HIV patient: a case report. (19025605)
2008
24
An unusual presentation of mucous membrane pemphigoid. (18174805)
2008
25
A prospective study of upper aerodigestive tract manifestations of mucous membrane pemphigoid. (16862049)
2006
26
Role of electron microscopy in the diagnosis of ocular mucous membrane pemphigoid. (16828515)
2006
27
Cicatricial pemphigoid (mucous membrane pemphigoid): current and emerging therapeutic approaches. (15799681)
2005
28
Mucous membrane pemphigoid of the vulva. (15863576)
2005
29
Mucous membrane pemphigoid. Update for the general practitioner. (14621367)
2003
30
Testing your diagnostic skills. Case No.1. Benign mucous membrane pemphigoid. (12833724)
2003
31
In vitro organ culture model for mucous membrane pemphigoid. (11161979)
2001
32
Mucous membrane pemphigoid presenting with isolated esophageal involvement: a case report. (10968869)
2000
33
Image interpretation session: 1999. Benign mucous membrane pemphigoid (cicatricial pemphigoid). (10682788)
2000
34
Mucous membrane pemphigoid, thymoma, and myasthenia gravis. (11044197)
2000
35
Mucous membrane pemphigoid: a dual circulating antibody response with IgG and IgA signifies a more severe and persistent disease. (9640363)
1998
36
Mucous membrane pemphigoid. Treatment experience at two institutions. (1508509)
1992
37
Benign mucous membrane pemphigoid: a case report. (1742665)
1991
38
Mucous membrane pemphigoid: a case report. (2198110)
1990
39
Oral involvement in mucous membrane pemphigoid. (3552187)
1987
40
Localization of basement membrane components in mucous membrane pemphigoid. (3881535)
1985
41
Oesophageal involvement in benign mucous membrane pemphigoid. (6365406)
1984
42
Mucous membrane pemphigoid--a preventable cause of laryngeal stenosis. (6350515)
1983
43
Case 32, part 2. Cicatricial pemphigoid (benign mucous membrane pemphigoid). (6999138)
1980
44
Benign mucous membrane pemphigoid in association with internal malignancy. (6987041)
1980
45
Benign mucous membrane pemphigoid. (378137)
1979
46
Benign mucous membrane pemphigoid in an 18-year-old woman. (356737)
1978
47
Benign mucous membrane pemphigoid. II. Cytology. (4134586)
1974
48
Mucous membrane pemphigoid. (5569330)
1971
49
Oral lesions of mucous membrane pemphigoid. A study of 85 cases. (5548985)
1971
50
Benign mucous membrane pemphigoid with laryngeal stenosis in a patient with thyroid carcinoma. (5654579)
1968

Variations for Mucous Membrane Pemphigoid

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Expression for genes affiliated with Mucous Membrane Pemphigoid

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mucous Membrane Pemphigoid

Search GEO for disease gene expression data for Mucous Membrane Pemphigoid.

Pathways for genes affiliated with Mucous Membrane Pemphigoid

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Sources:
51PathCards, 61Thomson Reuters, 39NCBI BioSystems Database, 31KEGG, 55R&D Systems, 54QIAGEN, 56Reactome, 13EMD Millipore, 5Cell Signaling Technology
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Pathways related to Mucous Membrane Pemphigoid according to GeneCards/GeneDecks:

(show all 26)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9ITGA6, ITGB4
29.6CDH1, ITGA6
39.5CDH3, CDH1
49.4ITGA6, LAMC2, LAMB3
5
Show member pathways
Immune response BCR pathway61
Fc-epsilon receptor I signaling in mast cells39
9.2IGHE, IL13, CD79A
6
Show member pathways
Immune response T cell receptor signaling pathway61
Immune response CD28 signaling61
Immune response ICOS pathway in T helper cell61
9.1IGHE, HLA-DQB1, CD79A
79.1ITGB4, ITGA6, LAMC2, LAMB3
8
Show member pathways
Integrin-mediated cell adhesion39
Focal Adhesion39
9.1ITGB4, ITGA6, LAMC2, LAMB3
9
Show member pathways
Proteogylcan syndecan-mediated signaling events39
9.1ITGB4, ITGA6, LAMC2, LAMB3
10
Show member pathways
9.1LAMB3, LAMC2, ITGA6, ITGB4
11
Show member pathways
9.1CD79A, ITGB4, ITGA6, HLA-DQB1
12
Show member pathways
9.1LAMB3, LAMC2, CDH1
139.0ITGA6, ITGB4, COL17A1, CDH1
149.0CDH1, CDH3, ITGB4, ITGA6
15
Show member pathways
8.9LAMB3, LAMC2, ITGA6, ITGB4, COL17A1
16
Show member pathways
8.9LAMB3, LAMC2, ITGA6, ITGB4, COL17A1
17
Show member pathways
8.8CDH1, IL13, ITGB4, ITGA6
188.8LAMB3, LAMC2, ITGA6, CDH1
19
Show member pathways
8.8CDH1, ITGB4, ITGA6, HLA-DQB1
208.7HLA-DQB1, ITGA6, CDH3, CDH1
21
Show member pathways
8.6LAMB3, LAMC2, ITGA6, ITGB4, COL17A1, CD79A
22
Show member pathways
8.4HLA-DQB1, LAMB3, LAMC2, ITGA6, IL13
23
Show member pathways
8.2LAMB3, LAMC2, ITGA6, ITGB4, COL17A1, CDH1
24
Show member pathways
8.0LAMB3, LAMC2, ITGA6, ITGB4, COL17A1, EIF6
25
Show member pathways
7.9CDH1, LAMB3, LAMC2, ITGA6, ITGB4, COL17A1
26
Show member pathways
7.5LAMB3, LAMC2, ITGA6, ITGB4, IL13, COL17A1

Compounds for genes affiliated with Mucous Membrane Pemphigoid

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Sources:
46Novoseek, 12DrugBank, 52PharmGKB, 30IUPHAR, 25HMDB, 62Tocris Bioscience
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Compounds related to Mucous Membrane Pemphigoid according to GeneCards/GeneDecks:

(show top 50)    (show all 56)
idCompoundScoreTop Affiliating Genes
1unicap4610.1IGHE, CD79A
2sodium cromoglycate4610.0CD79A, IGHE
3trimellitic anhydride469.9IGHE, IL13
4methyltetrahydrophthalic anhydride469.9IL13, IGHE
5omalizumab46 1210.9IGHE, IL13
6silicone469.9IGHE, CD79A
7ovomucoid469.9IL13, IGHE
8desloratadine46 1210.8IL13, IGHE
9rituximab46 52 1211.8DSG1, IL13, CD79A
10ivig469.7CD79A, DSG1, IGHE
11montelukast46 52 30 1212.7IL13, IGHE
12praziquantel46 1210.7CD79A, IL13, IGHE
13penicillin469.7IGHE, IL13, CD79A
14mycophenolic acid46 52 1211.6IL13, IGHE
15salbutamol46 52 30 25 1213.6CD79A, IL13, IGHE
16methacholine46 52 1211.6IGHE, IL13, CD79A
17allergens469.6CD79A, IL13, IGHE
18gliadin469.6CD79A, HLA-DQB1, IGHE
19kalinin469.6ITGB4, ITGA6, LAMC2, LAMB3
20prednisolone46 30 1211.6IGHE, IL13, CD79A
21inositol469.5CD79A, IL13, IGHE
22thyroxine46 2510.5IGHE, IL13, CD79A
23fluticasone propionate46 52 62 1212.5IL13, IGHE
24carbachol46 30 1211.4IL13, CD79A, CDH1
25budesonide46 52 1211.4IL13, IGHE
26hyaluronic acid46 2510.4CDH1, CD79A, IL13
27mannose469.4CDH1, CD79A, IL13
28matrigel469.4CDH1, ITGB4, ITGA6
29nickel46 2510.3CDH1, IL13, HLA-DQB1
30folate469.3IGHE, CD79A, CDH1
31aspirin46 52 30 2512.3IL13, CD79A, CDH1
32tarc469.3CDH1, IL13, IGHE
33acetylcholine46 52 30 25 1213.3IGHE, DSG1, IL13, CD79A
34sucrose46 25 1211.2DSG1, IL13, COL17A1, CDH1
35methotrexate52 46 1211.2CDH1, CD79A, ITGA6, IGHE
36n acetylcysteine469.0IGHE, CD79A, CDH1
37indomethacin46 30 62 1212.0IGHE, IL13, CD79A, CDH1
38histamine46 30 2511.0CDH1, CD79A, IL13, IGHE
39lactate468.9CDH1, CD79A, IL13, IGHE
40heparin46 30 25 1211.9IGHE, IL13, CD79A, CDH1
41glutamine468.7IGHE, HLA-DQB1, IL13, CDH1
42dexamethasone46 52 30 1211.7IGHE, IL13, CD79A, CDH1
43aspartate468.7IGHE, HLA-DQB1, IL13, CDH1
44progesterone46 30 62 25 1212.6CDH1, CDH3, EIF6, ITGA6
45estrogen468.6IGHE, IL13, CDH3, CD79A, CDH1
46glutamate468.4IGHE, HLA-DQB1, IL13, CD79A, CDH1
47arginine468.3CDH1, CD79A, IL13, IGHE
48retinoic acid46 259.1IGHE, DSG1, ITGA6, ITGB4, IL13, CD79A
49vegf467.9IGHE, ITGA6, IL13, EIF6, CD79A, CDH1
50tyrosine467.4HLA-DQB1, ITGA6, ITGB4, IL13, COL17A1, EIF6

GO Terms for genes affiliated with Mucous Membrane Pemphigoid

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Sources:
17Gene Ontology
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Cellular components related to Mucous Membrane Pemphigoid according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hemidesmosomeGO:0300569.9COL17A1, ITGB4, ITGA6
2laminin-5 complexGO:0056109.9LAMB3, LAMC2
3basal plasma membraneGO:0099259.8ITGA6, ITGB4
4basement membraneGO:0056049.8COL17A1, ITGB4, ITGA6
5lateral plasma membraneGO:0163289.5CDH1, DSG1
6external side of plasma membraneGO:0098979.4CD79A, IL13, ITGA6
7cell-cell adherens junctionGO:0059139.4CDH1, CDH3, ITGA6
8cytoplasmic side of plasma membraneGO:0098989.2CDH1, DSG1
9extracellular regionGO:0055767.9IGHE, LAMB3, LAMC2, IL13, COL17A1, CDH1
10plasma membraneGO:0058867.7HLA-DQB1, DSG1, ITGA6, ITGB4, COL17A1, CDH3

Biological processes related to Mucous Membrane Pemphigoid according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1filopodium assemblyGO:0468479.9ITGB4, ITGA6
2cell-matrix adhesionGO:0071609.9ITGA6, ITGB4, COL17A1
3brown fat cell differentiationGO:0508739.7ITGA6, LAMB3
4epidermis developmentGO:0085449.6COL17A1, LAMC2, LAMB3
5cellular component disassembly involved in execution phase of apoptosisGO:0069219.5CDH1, DSG1
6cell-cell adhesionGO:0163379.4DSG1, ITGA6, CDH1
7homophilic cell adhesionGO:0071569.3DSG1, CDH3, CDH1
8adherens junction organizationGO:0343329.2CDH1, CDH3
9cell adhesionGO:0071559.2CDH3, ITGB4, LAMC2, LAMB3
10hemidesmosome assemblyGO:0315819.1LAMB3, LAMC2, ITGA6, ITGB4, COL17A1
11extracellular matrix disassemblyGO:0226179.0CDH1, COL17A1, LAMC2, LAMB3
12extracellular matrix organizationGO:0301988.5LAMB3, LAMC2, ITGA6, ITGB4, COL17A1, CDH1
13cell junction assemblyGO:0343298.2CDH1, CDH3, COL17A1, ITGB4, ITGA6, LAMC2

Molecular functions related to Mucous Membrane Pemphigoid according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1gamma-catenin bindingGO:0452959.5CDH1, DSG1

Products for genes affiliated with Mucous Membrane Pemphigoid

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mucous Membrane Pemphigoid

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet