EBJ
MCID: JNC001
MIFTS: 59

Junctional Epidermolysis Bullosa (EBJ) malady

Genetic diseases, Rare diseases, Skin diseases, Fetal diseases, Oral diseases categories
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Summaries for Junctional Epidermolysis Bullosa

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43NIH Rare Diseases, 21Genetics Home Reference, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Junctional epidermolysis bullosa (jeb) is a type of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily.  jeb is separated into two categories: the herlitz type and the non-herlitz type. the herlitz type of jeb is very severe, and individuals with this condition often do not survive infancy. the non-herlitz type includes several subtypes that cause mild to severe blistering of the skin present at birth or shortly thereafter.   jeb is inherited in an autosomal recessive pattern. it is caused by mutations in the lamb3, col17a1, or lamc2, and lama3 genes. last updated: 7/22/2011

MalaCards: Junctional Epidermolysis Bullosa, also known as epidermolysis bullosa, junctional, is related to epidermolysis bullosa and epidermolysis bullosa with pyloric atresia, and has symptoms including bladder and ureter anomalies, respiratory distress/dyspnea/respiratory failure/lung volume reduction and larynx/laryngeal/epiglottic/subglottic cysts. An important gene associated with Junctional Epidermolysis Bullosa is LAMC2 (laminin, gamma 2), and among its related pathways are Validated transcriptional targets of AP1 family members Fra1 and Fra2 and Cytoskeleton remodeling Keratin filaments. The compounds calcipotriol and yigsr have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and testes, and related mouse phenotypes are other and renal/urinary system.

Genetics Home Reference:21 Junctional epidermolysis bullosa (JEB) is one of the major forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. Blisters and skin erosions form in response to minor injury or friction, such as rubbing or scratching. Researchers classify junctional epidermolysis bullosa into two main types: Herlitz JEB and non-Herlitz JEB. Although the types differ in severity, their features overlap significantly, and they can be caused by mutations in the same genes.

GeneReviews summary for ebj

Aliases & Classifications for Junctional Epidermolysis Bullosa

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8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 58SNOMED-CT, 35MeSH, 36MESH via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
junctional epidermolysis bullosa:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable; Age of death: Before age 5


Aliases & Descriptions:

junctional epidermolysis bullosa 8 19 43 21 10 49 62
epidermolysis bullosa, junctional 43 20 21
jeb 43 21 49
epidermolysis bullosa atrophicans 43 49
congenital junctional epidermolysis bullosa 8
epidermolysis bullosa junctional 45
ebj 49


External Ids:

Disease Ontology8 DOID:3209
MeSH35 D016109
MESH via Orphanet36 D016109
SNOMED-CT via Orphanet59 399971009
UMLS via Orphanet63 C0079301

Related Diseases for Junctional Epidermolysis Bullosa

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17GeneCards, 18GeneDecks
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Diseases in the Junctional Epidermolysis Bullosa family:

Lamb3-Related Junctional Epidermolysis Bullosa Col17a1-Related Junctional Epidermolysis Bullosa
Lamc2-Related Junctional Epidermolysis Bullosa Lama3-Related Junctional Epidermolysis Bullosa
Late-Onset Junctional Epidermolysis Bullosa

Diseases related to Junctional Epidermolysis Bullosa via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 57)
idRelated DiseaseScoreTop Affiliating Genes
1epidermolysis bullosa32.1KRT14, LAMA3, LAMB3, LAMC2, DST, ITGA6
2epidermolysis bullosa with pyloric atresia31.4ITGA6, ITGB4
3junctional epidermolysis bullosa, herlitz type31.2LAMA3, LAMC2, LAMB3
4junctional epidermolysis bullosa, non-herlitz type31.2LAMB3, ITGB4, COL17A1
5bullous pemphigoid30.9ITGA6, COL17A1, DST
6epidermolysis bullosa simplex30.4COL17A1, DST, ITGB4, KRT14
7epidermolysis bullosa acquisita30.3LAMA3, LAMC2, LAD1, DST, ITGB4, COL17A1
8junctional epidermolysis bullosa inversa10.5
9late-onset localized junctional epidermolysis bullosa - intellectual disability10.5
10late-onset junctional epidermolysis bullosa10.5
11urethritis10.4
12pyloric stenosis10.4
13lamb3-related junctional epidermolysis bullosa10.4
14col17a1-related junctional epidermolysis bullosa10.4
15lamc2-related junctional epidermolysis bullosa10.4
16lama3-related junctional epidermolysis bullosa10.4
17epidermolysis bullosa, junctional, with pyloric stenosis10.4
18amelogenesis imperfecta10.3
19protein-losing enteropathy10.3
20polycystic kidney disease10.3
21duodenitis10.3
22acute laryngitis10.3
23congenital muscular dystrophy10.3
24keratoacanthoma10.3
25kidney disease10.3
26laryngitis10.3
27muscular dystrophy10.3
28nephrotic syndrome10.3
29urethral stricture10.3
30duodenal atresia10.3
31kindler syndrome10.3
32rhabdoid tumor10.3
33mental retardation10.3
34epidermolysis bullosa dystrophica, ad10.3
35gastric outlet obstruction10.3
36maternal uniparental disomy of chromosome 110.3
37adult familial nephronophthisis - spastic quadriparesia10.3
38cicatricial pemphigoid10.1COL17A1
39ocular cicatricial pemphigoid10.1ITGA6, ITGB4
40epidermolysis bullosa simplex with pyloric atresia10.1ITGB4, ITGA6
41aplasia cutis congenita10.1ACHE
42herpes gestationis10.1COL17A1, DST
43skin disease10.1COL17A1, KRT14
44bullous skin disease10.1COL17A1, DST
45lichen planus10.0LAMC2, COL17A1, DST
46basal cell carcinoma10.0DST, ITGB4, COL17A1, LAMC2
47neurilemmoma10.0ITGA6, ITGB4, ACHE
48squamous cell carcinoma of the head and neck10.0ITGA6, ITGB4, KRT14
49adenoma10.0KRT14, ITGB4, ITGA6, LAMC2
50ovarian cancer10.0ACHE, ITGB4, COL17A1, ITGA6

Graphical network of the top 20 diseases related to Junctional Epidermolysis Bullosa:



Diseases related to junctional epidermolysis bullosa

Symptoms for Junctional Epidermolysis Bullosa

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49Orphanet
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Symptoms:

49 (show all 34)
  • bladder and ureter anomalies
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • larynx/laryngeal/epiglottic/subglottic cysts
  • larynx/laryngeal stenosis/atresia
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • renal failure
  • recurrent urinary infections
  • restricted joint mobility/joint stiffness/ankylosis
  • anaemia
  • early death/lethality
  • dehydration/hydroelectrolytic loss
  • sepsis severe/septicemia
  • polyhydramnios
  • onycholysis
  • alopecia
  • irregular/in bands/reticular skin hyperpigmentation
  • enamel anomaly
  • skin hypoplasia/aplasia/atrophy
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • dysplastic/thick/grooved fingernails
  • dysplastic/thick/grooved toenails
  • autosomal recessive inheritance
  • pruritus/itching
  • stomach/gastric anomaly
  • duodenal atresia/stenosis/megaduodenum
  • mucosal/cutaneous hemorrhage
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • corneal ulceration/perforation
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • syndactyly of fingers/interdigital palm
  • syndactyly of toes
  • chronic skin infection/ulcerations/ulcers/cancrum
  • follicular/erythematous/edematous papules/milium
  • anomalies of teeth and dentition

Drugs & Therapeutics for Junctional Epidermolysis Bullosa

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

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Search NIH Clinical Center for Junctional Epidermolysis Bullosa

Genetic Tests for Junctional Epidermolysis Bullosa

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20GeneTests
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Genetic tests related to Junctional Epidermolysis Bullosa:

id Genetic test Affiliating Genes
1 Junctional Epidermolysis Bullosa20 LAMC2

Anatomical Context for Junctional Epidermolysis Bullosa

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33MalaCards
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MalaCards organs/tissues related to Junctional Epidermolysis Bullosa:

33
Skin, Lung, Testes, Kidney, Eye

Animal Models for Junctional Epidermolysis Bullosa or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Junctional Epidermolysis Bullosa:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053959.3ITGA6, DST, LAMC2, LAMC1
2MP:00053679.1ITGB4, ITGA6, DST, LAMC2, LAMC1
3MP:00053779.0LAMC2, ACHE, ITGA6, ITGB4, KRT14
4MP:00053818.6LAMA3, LAMB3, LAMC2, DST, ITGA6, ITGB4
5MP:00053828.6LAMA3, LAMB3, LAMC2, ACHE, ITGA6, ITGB4
6MP:00053888.5LAMB3, LAMC1, LAMC2, ACHE, ITGA6, ITGB4
7MP:00107718.5LAMA3, LAMB3, LAMC2, DST, ITGA6, ITGB4
8MP:00053918.4LAMC1, DST, ACHE, ITGA6, ITGB4, KRT14
9MP:00053787.5LAMA3, LAMC1, DST, ACHE, ITGA6, COL17A1
10MP:00107686.8KRT14, LAMA3, LAMB3, LAMC1, LAMC2, LAMB1

Publications for Junctional Epidermolysis Bullosa

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52PubMed
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Articles related to Junctional Epidermolysis Bullosa:

(show top 50)    (show all 266)
idTitleAuthorsYear
1
Somatic correction of junctional epidermolysis bullosa by a highly recombinogenic AAV variant. (24390279)
2014
2
Junctional Epidermolysis Bullosa Incidence and Survival: 5-Year Experience of the Dystrophic Epidermolysis Bullosa Research Association of America (DebRA) Nurse Educator, 2007 to 2011. (23721227)
2013
3
Early intra-amniotic gene transfer using lentiviral vector improves skin blistering phenotype in a murine model of Herlitz junctional epidermolysis bullosa. (21938019)
2012
4
Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa. (21357940)
2011
5
Risk of squamous cell carcinoma in junctional epidermolysis bullosa, non-Herlitz type: report of 7 cases and a review of the literature. (21624701)
2011
6
Bullous pemphigoid in a patient with suspected non-Herlitz junctional epidermolysis bullosa. (20456391)
2010
7
Granulation tissue in the eyelid margin and conjunctiva in junctional epidermolysis bullosa with features of laryngo-onycho-cutaneous syndrome. (17362460)
2007
8
Retrospective diagnosis of fatal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defects. (17344927)
2007
9
Junctional epidermolysis bullosa. Identification of a new mutation in two Lebanese families]. (16142104)
2005
10
Junctional epidermolysis bullosa in two domestic shorthair kittens. (15725108)
2005
11
Increased risk of squamous cell carcinoma in junctional epidermolysis bullosa. (15324385)
2004
12
Sustainable correction of junctional epidermolysis bullosa via transposon-mediated nonviral gene transfer. (12808440)
2003
13
Novel and recurrent mutations in the integrin beta 4 subunit gene causing lethal junctional epidermolysis bullosa with pyloric atresia. (14705814)
2003
14
PhiC31 integrase-mediated nonviral genetic correction of junctional epidermolysis bullosa. (12828862)
2003
15
Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families. (11907499)
2002
16
Junctional epidermolysis bullosa with pyloric stenosis. (11841649)
2001
17
Normal expression of the 19-DEJ-1 epitope in two siblings with late-onset junctional epidermolysis bullosa. (11359397)
2001
18
Junctional epidermolysis bullosa gravis (Herlitz): diagnostic and genetic aspects. (11451332)
2001
19
Junctional epidermolysis bullosa associated with congenital localized absence of skin, and pyloric atresia in two newborn siblings. (11174408)
2001
20
Truncated typeXVII collagen expression in a patient with non-herlitz junctional epidermolysis bullosa caused by a homozygous splice-site mutation. (11406649)
2001
21
Preimplantation genetic diagnosis in two families at risk for recurrence of Herlitz junctional epidermolysis bullosa. (10949552)
2000
22
Rudimentary hemidesmosome formation in congenital generalized junctional epidermolysis bullosa in the Sprague-Dawley rat. (10896395)
2000
23
Molecular and fetal tissue biopsy capabilities are needed to maximize prenatal diagnosis of junctional epidermolysis bullosa: fetal skin biopsy using a 1-mm microendoscope. (10720872)
2000
24
Junctional epidermolysis bullosa in the neonate: a case report. (10442731)
1999
25
Corrective gene transfer of keratinocytes from patients with junctional epidermolysis bullosa restores assembly of hemidesmosomes in reconstructed epithelia. (9930337)
1998
26
Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa. (9501007)
1998
27
Heterozygosity for premature termination codon mutations in LAMB3 in siblings with non-lethal junctional epidermolysis bullosa. (9856855)
1998
28
Maternal uniparental meroisodisomy in the LAMB3 region of chromosome 1 results in lethal junctional epidermolysis bullosa. (9579554)
1998
29
Laminin 5 genes and Herlitz junctional epidermolysis bullosa: novel mutations and polymorphisms in the LAMB3 and LAMC2 genes. Mutations in brief no. 190. Online. (10660342)
1998
30
A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at risk. (8530087)
1995
31
Role of elevated alpha-fetoprotein in prenatal diagnosis of junctional epidermolysis bullosa and pyloric atresia. (7524513)
1994
32
Antigenic expression of integrin alpha 6 beta 4 in junctional epidermolysis bullosa. (8063286)
1994
33
Prenatal testing in a fetus at risk for autosomal dominant polycystic kidney disease and autosomal recessive junctional epidermolysis bullosa with pyloric atresia. (8291561)
1993
34
Nicein (BM-600) in junctional epidermolysis bullosa: polyclonal antibodies provide new clues for pathogenic role. (8228337)
1993
35
Congenital muscular dystrophy associated with familial junctional epidermolysis bullosa letalis. (8307068)
1993
36
Treatment of chronic erosions of junctional epidermolysis bullosa with human epidermal allografts. (1607462)
1992
37
The pyloric atresia-junctional epidermolysis bullosa syndrome. Report of a case and review of the literature. (1497363)
1992
38
Expression of integrin alpha 6 beta 4 in junctional epidermolysis bullosa. (1402007)
1992
39
Prenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia. (2182874)
1990
40
GB3 monoclonal antibody for the diagnosis of junctional epidermolysis bullosa: results of a multicenter study. (2273105)
1990
41
Eye involvement in junctional epidermolysis bullosa. (2818285)
1989
42
Treatment of junctional epidermolysis bullosa with epidermal autografts. (3114337)
1987
43
Anaesthesia for children with junctional epidermolysis bullosa (letalis). (3608059)
1987
44
The generalized atrophic benign form of junctional epidermolysis bullosa. Experience with four patients in the United States. (3521495)
1986
45
Junctional epidermolysis bullosa, pyloric atresia, and genitourinary disease. (3952029)
1986
46
Hemidesmosome heterogeneity in junctional epidermolysis bullosa revealed by morphometric analysis. (3745934)
1986
47
GB3 monoclonal antibody for diagnosis of junctional epidermolysis bullosa. (2870344)
1986
48
Non-lethal junctional epidermolysis bullosa in two adult sisters. (4093948)
1985
49
Phenytoin and junctional epidermolysis bullosa. (3977324)
1985
50
Junctional epidermolysis bullosa in two siblings: clinical observations, collagen studies and electron microscopy. (6093844)
1984

Variations for Junctional Epidermolysis Bullosa

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Expression for genes affiliated with Junctional Epidermolysis Bullosa

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Junctional Epidermolysis Bullosa

Search GEO for disease gene expression data for Junctional Epidermolysis Bullosa.

Pathways for genes affiliated with Junctional Epidermolysis Bullosa

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50PathCards, 38NCBI BioSystems Database, 60Thomson Reuters, 55Reactome, 30KEGG, 12EMD Millipore, 53QIAGEN
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Pathways related to Junctional Epidermolysis Bullosa according to GeneCards/GeneDecks:

(show all 24)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0LAMA3, ITGB4
29.8KRT14, DST
39.7LAMB1, LAMC1
49.7LAMB1, LAMC1
59.7ITGA6, ITGB4, COL17A1
69.5LAMB1, LAMC2, LAMC1
79.5LAMB1, LAMC1, LAMA3
89.2LAMC1, LAMB1, ITGA6, ITGB4
99.0LAMB1, LAMC2, LAMC1, LAMB3, LAMA3
10
Show member pathways
9.0LAMA3, LAMB3, LAMC1, LAMC2, LAMB1
118.7LAMA3, LAMB3, LAMC1, LAMC2, LAMB1, ITGA6
12
Show member pathways
8.7LAMA3, LAMB3, LAMC1, LAMC2, LAMB1, ITGA6
138.7LAMA3, LAMB3, LAMC1, LAMC2, LAMB1, ITGA6
14
Show member pathways
8.6LAMA3, LAMB3, LAMC2, DST, ITGA6, ITGB4
15
Show member pathways
8.6LAMA3, LAMB3, LAMC2, DST, ITGA6, ITGB4
16
Show member pathways
Proteogylcan syndecan-mediated signaling events38
8.5LAMA3, LAMB3, LAMC1, LAMC2, LAMB1, ITGA6
17
Show member pathways
Integrin-mediated cell adhesion38
Focal Adhesion38
8.5LAMA3, LAMB3, LAMC1, LAMC2, LAMB1, ITGA6
188.5LAMA3, LAMB3, LAMC1, LAMC2, LAMB1, ITGA6
19
Show member pathways
8.5LAMA3, LAMB3, LAMC1, LAMC2, LAMB1, ITGA6
20
Show member pathways
8.2LAMA3, LAMB3, LAMC1, LAMC2, LAMB1, ITGA6
21
Show member pathways
8.2LAMA3, LAMB3, LAMC1, LAMC2, LAMB1, ITGA6
22
Show member pathways
8.2LAMA3, LAMB3, LAMC1, LAMC2, LAMB1, ITGA6
23
Show member pathways
7.9LAMA3, LAMB3, LAMC1, LAMC2, LAMB1, DST
24
Show member pathways
7.4EIF6, LAMA3, LAMB3, COL17A1, ITGB4, ITGA6

Compounds for genes affiliated with Junctional Epidermolysis Bullosa

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45Novoseek, 61Tocris Bioscience, 29IUPHAR, 11DrugBank
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Compounds related to Junctional Epidermolysis Bullosa according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1calcipotriol45 61 29 1112.8KRT14, ITGB4
2yigsr459.7LAMB1, ITGA6
3gold459.6COL17A1, DST, LAMC2
4hpvs459.5KRT14, ITGA6
5kalinin458.6ITGB4, ITGA6, DST, LAMC2, LAMC1, LAMB3

GO Terms for genes affiliated with Junctional Epidermolysis Bullosa

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16Gene Ontology
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Cellular components related to Junctional Epidermolysis Bullosa according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1laminin-5 complexGO:0056109.9LAMC2, LAMB3, LAMA3
2cell leading edgeGO:0312529.9ITGB4, DST
3laminin-2 complexGO:0056079.8LAMB1, LAMC2
4basal plasma membraneGO:0099259.6ITGB4, ITGA6, DST
5laminin-1 complexGO:0056069.6LAMA3, LAMC1, LAMB1
6hemidesmosomeGO:0300569.5DST, ITGA6, ITGB4, COL17A1
7laminin-10 complexGO:0432599.4LAMB1, LAMC1
8extracellular regionGO:0055768.3LAMA3, LAMB3, LAMC1, LAMC2, LAMB1, ACHE
9basement membraneGO:0056048.2COL17A1, LAMA3, LAMC1, LAMB1, LAD1, DST

Biological processes related to Junctional Epidermolysis Bullosa according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1cell motilityGO:0488709.9DST, ITGB4
2filopodium assemblyGO:0468479.8ITGB4, ITGA6
3cell-matrix adhesionGO:0071609.8COL17A1, ITGB4, ITGA6
4substrate adhesion-dependent cell spreadingGO:0344469.7LAMB1, LAMC1
5integrin-mediated signaling pathwayGO:0072299.7ITGB4, ITGA6, DST
6brown fat cell differentiationGO:0508739.6ITGA6, LAMB3
7response to woundingGO:0096119.6DST, ACHE, ITGB4
8epidermis developmentGO:0085449.3KRT14, COL17A1, LAMC2, LAMB3, LAMA3
9extracellular matrix disassemblyGO:0226179.0LAMA3, LAMB3, LAMC1, LAMC2, LAMB1, COL17A1
10cell junction assemblyGO:0343298.9KRT14, COL17A1, ITGB4, ITGA6, LAMC2, LAMB3
11hemidesmosome assemblyGO:0315818.2KRT14, LAMA3, LAMB3, LAMC1, LAMC2, DST
12cell adhesionGO:0071558.2LAMA3, LAMB3, LAMC1, LAMC2, LAMB1, DST
13extracellular matrix organizationGO:0301988.1LAMA3, LAMB3, COL17A1, ITGB4, ITGA6, DST

Molecular functions related to Junctional Epidermolysis Bullosa according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glycosphingolipid bindingGO:0432089.7LAMC1, LAMB1
2laminin bindingGO:0432369.5ACHE, ITGA6
3integrin bindingGO:0051789.3ITGA6, DST, LAMB1
4structural molecule activityGO:0051989.3LAD1, LAMB1, LAMB3, LAMA3
5protein bindingGO:0055157.3LAMB3, DST, ACHE, ITGA6, ITGB4, COL17A1

Products for genes affiliated with Junctional Epidermolysis Bullosa

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Sources for Junctional Epidermolysis Bullosa

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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