MCID: MCS003
MIFTS: 58

Mucous Membrane Pemphigoid malady

Skin diseases, Rare diseases categories
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Summaries for Mucous Membrane Pemphigoid

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Sources:
65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 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:47 164185

Aliases & Classifications for Mucous Membrane Pemphigoid

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Sources:
49Orphanet, 47OMIM, 62UMLS, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Skin diseases
Orphanet: 49 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

49
mucous membrane pemphigoid:
Inheritance: Sporadic; Age of onset: Adulthood; Age of death: Normal


Aliases & Descriptions:

mucous membrane pemphigoid 49 47
pemphigoid, benign mucous membrane 62
mucosynechial pemphigoid 49
cicatricial pemphigoid 49
mucosal pemphigoid 49


External Ids:

SNOMED-CT via Orphanet59 34250006
OMIM47 164185
ICD10 via Orphanet26 L12.1

Related Diseases for Mucous Membrane Pemphigoid

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17GeneCards, 18GeneDecks
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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:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

164185

Clinical features from OMIM:

164185

Symptoms:

49 (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:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Mucous Membrane Pemphigoid

Search NIH Clinical Center for Mucous Membrane Pemphigoid

Genetic Tests for Mucous Membrane Pemphigoid

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Anatomical Context for Mucous Membrane Pemphigoid

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33MalaCards
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MalaCards organs/tissues related to Mucous Membrane Pemphigoid:

33
Skin, T cells, Trachea, Testes, Prostate, Thyroid, Liver, Eye

Animal Models for Mucous Membrane Pemphigoid or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Mucous Membrane Pemphigoid:

37
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:
52PubMed
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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, 15Gene 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:
50PathCards, 60Thomson Reuters, 38NCBI BioSystems Database, 30KEGG, 54R&D Systems, 53QIAGEN, 55Reactome, 12EMD 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 pathway60
Fc-epsilon receptor I signaling in mast cells38
9.2IGHE, IL13, CD79A
6
Show member pathways
Immune response T cell receptor signaling pathway60
Immune response CD28 signaling60
Immune response ICOS pathway in T helper cell60
9.1IGHE, HLA-DQB1, CD79A
79.1ITGB4, ITGA6, LAMC2, LAMB3
8
Show member pathways
Integrin-mediated cell adhesion38
Focal Adhesion38
9.1ITGB4, ITGA6, LAMC2, LAMB3
9
Show member pathways
Proteogylcan syndecan-mediated signaling events38
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:
45Novoseek, 11DrugBank, 51PharmGKB, 29IUPHAR, 24HMDB, 61Tocris Bioscience
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Compounds related to Mucous Membrane Pemphigoid according to GeneCards/GeneDecks:

(show top 50)    (show all 56)
idCompoundScoreTop Affiliating Genes
1unicap4510.1IGHE, CD79A
2sodium cromoglycate4510.0CD79A, IGHE
3trimellitic anhydride459.9IGHE, IL13
4methyltetrahydrophthalic anhydride459.9IL13, IGHE
5omalizumab45 1110.9IGHE, IL13
6silicone459.9IGHE, CD79A
7ovomucoid459.9IL13, IGHE
8desloratadine45 1110.8IL13, IGHE
9rituximab45 51 1111.8DSG1, IL13, CD79A
10ivig459.7CD79A, DSG1, IGHE
11montelukast45 51 29 1112.7IL13, IGHE
12praziquantel45 1110.7CD79A, IL13, IGHE
13penicillin459.7IGHE, IL13, CD79A
14mycophenolic acid45 51 1111.6IL13, IGHE
15salbutamol45 51 29 24 1113.6CD79A, IL13, IGHE
16methacholine45 51 1111.6IGHE, IL13, CD79A
17allergens459.6CD79A, IL13, IGHE
18gliadin459.6CD79A, HLA-DQB1, IGHE
19kalinin459.6ITGB4, ITGA6, LAMC2, LAMB3
20prednisolone45 29 1111.6IGHE, IL13, CD79A
21inositol459.5CD79A, IL13, IGHE
22thyroxine45 2410.5IGHE, IL13, CD79A
23fluticasone propionate45 51 61 1112.5IL13, IGHE
24carbachol45 29 1111.4IL13, CD79A, CDH1
25budesonide45 51 1111.4IL13, IGHE
26hyaluronic acid45 2410.4CDH1, CD79A, IL13
27mannose459.4CDH1, CD79A, IL13
28matrigel459.4CDH1, ITGB4, ITGA6
29nickel45 2410.3CDH1, IL13, HLA-DQB1
30folate459.3IGHE, CD79A, CDH1
31aspirin45 51 29 2412.3IL13, CD79A, CDH1
32tarc459.3CDH1, IL13, IGHE
33acetylcholine45 51 29 24 1113.3IGHE, DSG1, IL13, CD79A
34sucrose45 24 1111.2DSG1, IL13, COL17A1, CDH1
35methotrexate51 45 1111.2CDH1, CD79A, ITGA6, IGHE
36n acetylcysteine459.0IGHE, CD79A, CDH1
37indomethacin45 29 61 1112.0IGHE, IL13, CD79A, CDH1
38histamine45 29 2411.0CDH1, CD79A, IL13, IGHE
39lactate458.9CDH1, CD79A, IL13, IGHE
40heparin45 29 24 1111.9IGHE, IL13, CD79A, CDH1
41glutamine458.7IGHE, HLA-DQB1, IL13, CDH1
42dexamethasone45 51 29 1111.7IGHE, IL13, CD79A, CDH1
43aspartate458.7IGHE, HLA-DQB1, IL13, CDH1
44progesterone45 29 61 24 1112.6CDH1, CDH3, EIF6, ITGA6
45estrogen458.6IGHE, IL13, CDH3, CD79A, CDH1
46glutamate458.4IGHE, HLA-DQB1, IL13, CD79A, CDH1
47arginine458.3CDH1, CD79A, IL13, IGHE
48retinoic acid45 249.1IGHE, DSG1, ITGA6, ITGB4, IL13, CD79A
49vegf457.9IGHE, ITGA6, IL13, EIF6, CD79A, CDH1
50tyrosine457.4HLA-DQB1, ITGA6, ITGB4, IL13, COL17A1, EIF6

GO Terms for genes affiliated with Mucous Membrane Pemphigoid

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Sources:
16Gene 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet