MCID: EPD062
MIFTS: 45

Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Categories: Genetic diseases, Rare diseases, Skin diseases, Fetal diseases, Oral diseases

Aliases & Classifications for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

MalaCards integrated aliases for Epidermolysis Bullosa, Junctional, Non-Herlitz Type:

Name: Epidermolysis Bullosa, Junctional, Non-Herlitz Type 54 50
Gabeb 12 50 56 71 52
Generalized Atrophic Benign Epidermolysis Bullosa 12 50 56 71
Generalized Junctional Epidermolysis Bullosa, Non-Herlitz Type 12 50 56
Junctional Epidermolysis Bullosa Generalisata Mitis 12 50 56
Junctional Epidermolysis Bullosa, Disentis Type 12 50 56
Jeb-Nh Gen 12 50 56
Jen-Nh 12 50 56
Epidermolysis Bullosa, Generalized Atrophic Benign 54 13
Junctional Epidermolysis Bullosa, Non-Herlitz Type 50 56
Junctional Epidermolysis Bullosa Non-Herlitz Type 12 14
Jeb-I 56 69
Localized Junctional Epidermolysis Bullosa, Non-Herlitz Type 56
Epidermolysis Bullosa, Junctional, Localisata Variant 54
Epidermolysis Bullosa Junctionalis, Non-Herlitz Type 50
Epidermolysis Bullosa Atrophicans Generalisata Mitis 71
Epidermolysis Bullosa Junctionalis Severe Non-Lethal 71
Generalized Junctional Epidermolysis Bullosa Mitis 71
Epidermolysis Bullosa Junctionalis Disentis Type 71
Epidermolysis Bullosa Junctionalis Progressive 71
Non-Herlitz Junctional Epidermolysis Bullosa 71
Epidermolysis Bullosa Inversa Dystrophica 69
Junctional Epidermolysis Bullosa Inversa 56
Junctional Epidermolysis Bullosa 69
Inverse Jeb 56
Jeb-Nh Loc 56
Jeb-Nh 50
Ebj-I 56

Characteristics:

Orphanet epidemiological data:

56
localized junctional epidermolysis bullosa, non-herlitz type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;
junctional epidermolysis bullosa, non-herlitz type
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;
generalized junctional epidermolysis bullosa, non-herlitz type
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age;
junctional epidermolysis bullosa inversa
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity


HPO:

32
epidermolysis bullosa, junctional, non-herlitz type:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Disease Ontology : 12 A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has material basis in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5

MalaCards based summary : Epidermolysis Bullosa, Junctional, Non-Herlitz Type, also known as gabeb, is related to junctional epidermolysis bullosa inversa and localized junctional epidermolysis bullosa, non-herlitz type, and has symptoms including failure to thrive, palmoplantar keratoderma and anemia. An important gene associated with Epidermolysis Bullosa, Junctional, Non-Herlitz Type is COL17A1 (Collagen Type XVII Alpha 1 Chain), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. Affiliated tissues include skin, and related phenotypes are craniofacial and digestive/alimentary

UniProtKB/Swiss-Prot : 71 Generalized atrophic benign epidermolysis bullosa: A non-lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair and tooth abnormalities.

Description from OMIM: 226650

Related Diseases for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Diseases related to Epidermolysis Bullosa, Junctional, Non-Herlitz Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
id Related Disease Score Top Affiliating Genes
1 junctional epidermolysis bullosa inversa 12.4
2 localized junctional epidermolysis bullosa, non-herlitz type 12.4
3 epidermolysis bullosa 10.3
4 junctional epidermolysis bullosa 10.3
5 muscular dystrophy, limb-girdle, type 2q 10.3 ITGB4 PLEC
6 penis agenesis 10.3 COL17A1 DST
7 congenital ichthyosis-microcephalus-tetraplegia syndrome 10.3 LAMA3 LAMB3 LAMC2
8 ligneous conjunctivitis 10.2 COL17A1 DST ITGB4
9 epidermolysis bullosa, junctional, herlitz type 10.2 LAMA3 LAMB3 LAMC2
10 squamous cell carcinoma 10.2
11 peripheral nervous system neoplasm 10.1 COL17A1 DST
12 epidermolysis bullosa simplex, ogna type 10.1 COL17A1 DST PLEC
13 fbxl4-related encephalomyopathic mitochondrial dna depletion syndrome 10.0 ITGA6 ITGB4 PLEC
14 rectum carcinoma in situ 10.0 COL17A1 COL7A1 DST
15 familial nephrotic syndrome 10.0 COL7A1 DST
16 spinocerebellar ataxia 23 9.9 COL7A1 DST ITGB4
17 classic hairy cell leukemia 9.9 COL17A1 DST
18 acute vascular insufficiency of intestine 9.8 CD79A COL17A1 DST
19 aplasia cutis congenita recessive 9.8 COL7A1 ITGA6 ITGB4
20 bilateral retinoblastoma 9.8 COL17A1 DST ITGB4 PLEC
21 acute pulmonary heart disease 9.8 CD79A COL17A1 DST
22 lymphoma 9.7 CD79A COL17A1 DST
23 dyskinesia of esophagus 9.7 CD79A COL17A1 DST
24 epidermolysis bullosa simplex superficialis 9.7 CD79A ITGA6 ITGB4
25 dermatitis herpetiformis 9.6 CD79A COL17A1 DST LAMA3
26 ureteral lymphoma 9.5 CD79A COL17A1 DST PLEC
27 nemaline myopathy 9 9.4 COL17A1 DST ITGA6 ITGB4 PLEC
28 autism spectrum disorder 9.2 CD79A COL17A1 DST LAMA3 PLEC
29 nephrosclerosis 9.0 CD79A COL17A1 DST ITGB4 LAMA3 LAMC2
30 jejunal somatostatinoma 8.9 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMB3
31 lip and oral cavity cancer 8.8 CD79A COL17A1 DST ITGB4 LAD1
32 pilar sheath acanthoma 8.8 CD79A COL17A1 COL7A1 DST ITGB4 LAMA3
33 small non-cleaved cell lymphoma 8.5 CD79A COL17A1 COL7A1 DST ITGB4 LAMB3
34 gilbert syndrome 8.0 COL17A1 COL7A1 DST ITGA6 ITGB4 LAMA3
35 bartholin's duct cyst 7.8 CD79A COL17A1 DST ITGA6 ITGB4 LAMA3
36 bilirubin metabolic disorder 7.3 CD79A COL17A1 COL7A1 DST ITGA6 ITGB4

Graphical network of the top 20 diseases related to Epidermolysis Bullosa, Junctional, Non-Herlitz Type:



Diseases related to Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Symptoms & Phenotypes for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Teeth:
hypodontia
dental caries
enamel pitting

Skin Nails & Hair- Skin:
absent dermal ridges
palmar hyperhidrosis
plantar hyperkeratosis
non-scarring skin blistering (hands, feet, elbow, knee - onset in adolescence)

Skeletal- Feet:
plantar hyperkeratosis

Skin Nails & Hair- Skin Electron Microscopy:
junctional blister formation
widened lamina lucida
normal hemidesmosomes

Head And Neck- Mouth:
oral mucosa blisters

Skeletal- Hands:
absent dermal ridges
mild finger contractures
palmar hyperhidrosis

Skin Nails & Hair- Skin Histology:
subepidermal blistering
loss of dermal papillae
loss of superficial elastic fibers

Skin Nails & Hair- Nails:
nail dystrophy (onset in childhood or adolescence)
fragile nails


Clinical features from OMIM:

226650

Human phenotypes related to Epidermolysis Bullosa, Junctional, Non-Herlitz Type:

56 32 (show all 38)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 56 32 hallmark (90%) Very frequent (99-80%) HP:0001508
2 palmoplantar keratoderma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000982
3 anemia 56 32 frequent (33%) Frequent (79-30%) HP:0001903
4 hydronephrosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000126
5 renal insufficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0000083
6 milia 56 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001056
7 fragile skin 56 32 hallmark (90%) Very frequent (99-80%) HP:0001030
8 anonychia 56 32 frequent (33%) Frequent (79-30%) HP:0001798
9 nail dystrophy 56 32 frequent (33%) Very frequent (99-80%),Frequent (79-30%),Frequent (79-30%) HP:0008404
10 sparse body hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0002231
11 pyloric stenosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002021
12 aplasia cutis congenita 56 32 hallmark (90%) Very frequent (99-80%) HP:0001057
13 atrophic scars 56 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001075
14 scarring alopecia of scalp 56 32 hallmark (90%) Very frequent (99-80%) HP:0004552
15 growth delay 56 32 occasional (7.5%) Very frequent (99-80%),Occasional (29-5%) HP:0001510
16 urethral obstruction 56 32 occasional (7.5%) Occasional (29-5%) HP:0000796
17 corneal erosion 56 32 occasional (7.5%) Occasional (29-5%) HP:0200020
18 skin ulcer 56 32 frequent (33%) Frequent (79-30%) HP:0200042
19 abnormality of skin pigmentation 56 32 hallmark (90%) Very frequent (99-80%) HP:0001000
20 skin vesicle 56 32 hallmark (90%) Very frequent (99-80%) HP:0200037
21 hyperpigmentation of the skin 56 32 frequent (33%) Frequent (79-30%) HP:0000953
22 hypopigmentation of the skin 56 32 frequent (33%) Frequent (79-30%) HP:0001010
23 abnormality of the larynx 56 32 hallmark (90%) Very frequent (99-80%) HP:0001600
24 absent toenail 56 32 hallmark (90%) Very frequent (99-80%) HP:0001802
25 absent fingernail 56 32 hallmark (90%) Very frequent (99-80%) HP:0001817
26 hypoplasia of dental enamel 56 32 occasional (7.5%) Very frequent (99-80%),Occasional (29-5%) HP:0006297
27 dermal atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0004334
28 oral mucosal blisters 56 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0200097
29 urinary bladder inflammation 56 32 occasional (7.5%) Occasional (29-5%) HP:0100577
30 hypodontia 32 HP:0000668
31 palmar hyperhidrosis 32 HP:0006089
32 plantar hyperkeratosis 32 HP:0007556
33 fragile nails 32 HP:0001808
34 nail dysplasia 32 HP:0002164
35 carious teeth 32 HP:0000670
36 abnormal blistering of the skin 56 Very frequent (99-80%),Very frequent (99-80%)
37 abnormality of the bladder 56 Occasional (29-5%)
38 camptodactyly of finger 32 HP:0100490

MGI Mouse Phenotypes related to Epidermolysis Bullosa, Junctional, Non-Herlitz Type:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.63 COL7A1 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
2 digestive/alimentary MP:0005381 9.43 COL7A1 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
3 integument MP:0010771 9.17 LAMB3 LAMC2 PLEC COL7A1 ITGA6 ITGB4

Drugs & Therapeutics for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Survey to Identify Burdens and Unmet Needs of Patients With Epidermolysis Bullosa Completed NCT03158662

Search NIH Clinical Center for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Genetic Tests for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Anatomical Context for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

MalaCards organs/tissues related to Epidermolysis Bullosa, Junctional, Non-Herlitz Type:

39
Skin

Publications for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Variations for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

UniProtKB/Swiss-Prot genetic disease variations for Epidermolysis Bullosa, Junctional, Non-Herlitz Type:

71
id Symbol AA change Variation ID SNP ID
1 COL17A1 p.Ser265Cys VAR_017596
2 COL17A1 p.Gly627Val VAR_017598
3 COL17A1 p.Gly633Asp VAR_017599 rs121912773
4 COL17A1 p.Arg1303Gln VAR_017601 rs121912771
5 ITGB4 p.Gly931Asp VAR_011299 rs121912466
6 LAMB3 p.Glu210Lys VAR_004170 rs121912482
7 LAMB3 p.Gly199Ala VAR_037310 rs121912486
8 LAMB3 p.Lys207Gln VAR_037311 rs121912487

ClinVar genetic disease variations for Epidermolysis Bullosa, Junctional, Non-Herlitz Type:

6 (show all 30)
id Gene Variation Type Significance SNP ID Assembly Location
1 LAMA3 NM_198129.2(LAMA3): c.8962C> T (p.Gln2988Ter) single nucleotide variant Pathogenic rs137852758 GRCh37 Chromosome 18, 21519286: 21519286
2 LAMB3 NM_000228.2(LAMB3): c.1903C> T (p.Arg635Ter) single nucleotide variant Pathogenic rs80356682 GRCh37 Chromosome 1, 209799066: 209799066
3 LAMB3 NM_000228.2(LAMB3): c.904delT (p.Trp302Glyfs) deletion Pathogenic rs786205094 GRCh37 Chromosome 1, 209803999: 209803999
4 LAMB3 NM_000228.2(LAMB3): c.628G> A (p.Glu210Lys) single nucleotide variant Pathogenic rs121912482 GRCh37 Chromosome 1, 209806415: 209806415
5 LAMB3 NM_000228.2(LAMB3): c.1439_1443delCGTGT (p.Pro480Argfs) deletion Pathogenic rs786205095 GRCh37 Chromosome 1, 209800770: 209800774
6 LAMB3 NM_000228.2(LAMB3): c.628+42G> A single nucleotide variant Pathogenic rs587776812 GRCh37 Chromosome 1, 209806373: 209806373
7 LAMB3 NM_000228.2(LAMB3): c.596G> C (p.Gly199Ala) single nucleotide variant Pathogenic rs121912486 GRCh37 Chromosome 1, 209806447: 209806447
8 LAMB3 NM_000228.2(LAMB3): c.565-3T> C single nucleotide variant Pathogenic rs587776813 GRCh37 Chromosome 1, 209806481: 209806481
9 LAMB3 NM_000228.2(LAMB3): c.619A> C (p.Lys207Gln) single nucleotide variant Pathogenic rs121912487 GRCh37 Chromosome 1, 209806424: 209806424
10 LAMB3 NM_000228.2(LAMB3): c.629-1G> A single nucleotide variant Pathogenic rs587776814 GRCh37 Chromosome 1, 209806122: 209806122
11 LAMC2 NM_005562.2(LAMC2): c.733C> T (p.Arg245Ter) single nucleotide variant Pathogenic rs118203901 GRCh37 Chromosome 1, 183191316: 183191316
12 LAMC2 LAMC2, IVS3, G-A, -1 single nucleotide variant Pathogenic
13 LAMC2 LAMC2, 1-BP INS, 3511A insertion Pathogenic
14 ITGB4 NM_000213.4(ITGB4): c.2792G> A (p.Gly931Asp) single nucleotide variant Pathogenic rs121912466 GRCh37 Chromosome 17, 73738672: 73738672
15 COL17A1 COL17A1, 1-BP DEL, 2965G deletion Pathogenic
16 COL17A1 COL17A1, 2-BP DEL, 520AG deletion Pathogenic
17 COL17A1 NM_000494.3(COL17A1): c.3676C> T (p.Arg1226Ter) single nucleotide variant Pathogenic rs121912769 GRCh37 Chromosome 10, 105794469: 105794469
18 COL17A1 COL17A1, 1-BP INS, 4150G insertion Pathogenic
19 COL17A1 COL17A1, 5-BP DEL, NT2944 deletion Pathogenic
20 COL17A1 NM_000494.3(COL17A1): c.3067C> T (p.Gln1023Ter) single nucleotide variant Pathogenic rs121912770 GRCh37 Chromosome 10, 105798167: 105798167
21 COL17A1 COL17A1, 1-BP DEL, 1706A deletion Pathogenic
22 COL17A1 NM_000494.3(COL17A1): c.3908G> A (p.Arg1303Gln) single nucleotide variant Pathogenic rs121912771 GRCh37 Chromosome 10, 105793951: 105793951
23 COL17A1 COL17A1, IVS31AS, A-G, -2 single nucleotide variant Pathogenic
24 COL17A1 COL17A1, IVS31AS, G-T, -1 single nucleotide variant Pathogenic
25 COL17A1 COL17A1, 2-BP DEL, 4003TC deletion Pathogenic
26 COL17A1 NM_000494.3(COL17A1): c.2564T> G (p.Leu855Ter) single nucleotide variant Pathogenic rs121912772 GRCh37 Chromosome 10, 105801284: 105801284
27 COL17A1 NM_000494.3(COL17A1): c.1898G> A (p.Gly633Asp) single nucleotide variant Pathogenic rs121912773 GRCh37 Chromosome 10, 105812830: 105812830
28 COL17A1 NM_000494.3(COL17A1): c.433C> T (p.Arg145Ter) single nucleotide variant Pathogenic rs121912774 GRCh37 Chromosome 10, 105831820: 105831820
29 COL17A1 NM_000494.3(COL17A1): c.2435-6_2440delTTTCAGAGGGGT deletion Likely pathogenic rs797045084 GRCh38 Chromosome 10, 104043576: 104043587
30 ITGB4 NM_000213.4(ITGB4): c.5329+2T> C single nucleotide variant Likely pathogenic rs762236241 GRCh37 Chromosome 17, 73753393: 73753393

Expression for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Search GEO for disease gene expression data for Epidermolysis Bullosa, Junctional, Non-Herlitz Type.

Pathways for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Pathways related to Epidermolysis Bullosa, Junctional, Non-Herlitz Type according to GeneCards Suite gene sharing:

(show all 23)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.62 COL17A1 COL7A1 ITGA6 ITGB4 LAMA3 LAMB3
2
Show member pathways
13.18 COL17A1 COL7A1 ITGA6 ITGB4 LAMA3 LAMB3
3
Show member pathways
12.81 CD79A COL17A1 COL7A1 ITGA6 ITGB4 LAMA3
4
Show member pathways
12.7 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
5
Show member pathways
12.61 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
6 12.48 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
7 12.47 ITGA6 LAMA3 LAMB3 LAMC2
8
Show member pathways
12.38 COL17A1 DST ITGA6 ITGB4 LAMA3 LAMB3
9
Show member pathways
12.33 COL17A1 COL7A1 DST ITGA6 ITGB4 LAMA3
10
Show member pathways
12.15 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
11
Show member pathways
12.05 ITGA6 LAMA3 LAMB3 LAMC2
12
Show member pathways
11.99 ITGA6 ITGB4 LAMA3
13
Show member pathways
11.94 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
14
Show member pathways
11.93 COL17A1 COL7A1 DST ITGA6 ITGB4 LAMA3
15 11.78 ITGA6 ITGB4 PLEC
16 11.72 LAMA3 LAMB3 LAMC2
17 11.66 ITGA6 LAMA3 LAMB3 LAMC2
18 11.49 LAMA3 LAMB3 LAMC2
19
Show member pathways
11.48 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
20 11.21 ITGA6 ITGB4
21 11.13 ITGB4 LAMA3
22 11.12 COL17A1 ITGA6 ITGB4

GO Terms for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

Cellular components related to Epidermolysis Bullosa, Junctional, Non-Herlitz Type according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 proteinaceous extracellular matrix GO:0005578 9.63 COL17A1 COL7A1 LAD1 LAMA3 LAMB3 LAMC2
2 basal plasma membrane GO:0009925 9.37 DST ITGA6
3 hemidesmosome GO:0030056 9.35 COL17A1 DST ITGA6 ITGB4 PLEC
4 integrin complex GO:0008305 9.32 ITGA6 ITGB4
5 laminin-5 complex GO:0005610 9.26 LAMA3 LAMB3
6 basement membrane GO:0005604 9.23 COL17A1 COL7A1 DST ITGA6 LAD1 LAMA3

Biological processes related to Epidermolysis Bullosa, Junctional, Non-Herlitz Type according to GeneCards Suite gene sharing:

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.8 COL7A1 DST ITGA6 ITGB4 LAMA3 LAMB3
2 cell-matrix adhesion GO:0007160 9.65 COL17A1 ITGA6 ITGB4
3 integrin-mediated signaling pathway GO:0007229 9.63 DST ITGA6 ITGB4
4 extracellular matrix disassembly GO:0022617 9.58 LAMA3 LAMB3 LAMC2
5 skin development GO:0043588 9.55 ITGA6 ITGB4
6 epidermis development GO:0008544 9.55 COL17A1 COL7A1 LAMA3 LAMB3 LAMC2
7 digestive tract development GO:0048565 9.54 ITGA6 ITGB4
8 brown fat cell differentiation GO:0050873 9.52 ITGA6 LAMB3
9 cell motility GO:0048870 9.51 DST ITGB4
10 endodermal cell differentiation GO:0035987 9.5 COL7A1 LAMA3 LAMB3
11 renal system development GO:0072001 9.49 ITGA6 ITGB4
12 amelogenesis GO:0097186 9.43 ITGA6 ITGB4
13 extracellular matrix organization GO:0030198 9.43 COL7A1 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2
14 nail development GO:0035878 9.37 ITGA6 ITGB4
15 hemidesmosome assembly GO:0031581 9.17 COL17A1 ITGA6 ITGB4 LAMA3 LAMB3 LAMC2

Molecular functions related to Epidermolysis Bullosa, Junctional, Non-Herlitz Type according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.33 LAD1 LAMA3 LAMB3
2 insulin-like growth factor I binding GO:0031994 8.96 ITGA6 ITGB4
3 neuregulin binding GO:0038132 8.62 ITGA6 ITGB4

Sources for Epidermolysis Bullosa, Junctional, Non-Herlitz Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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