Disease table of EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA OMIM ID: 226730

Gene-disease associations table

GeneAssociated with EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
ITGB4ClinVar, OMIM, HUMSAVARHGNC link17q25.13226650, 131800, 226730
ITGA6OMIMHGNC link2q31.11226730

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
ITGB4YES1ZEB10
ITGA6YES2POU5F1, SOX20
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
ITGB4ITGA6Yesbinding94ITGB3, AKT1, LAMC3, EGFR, ACTN4, YWHAB, ITGA5, YWHAH, PTK2, THBS3, LAMA5, VWF, RELN, LAMB4, ITGB8, COL5A2, LAMC2, PIK3R1, YWHAG, PRKCA, MAX, COL5A1, PARVB, YWHAE, ITGA2B, TLN2, ITGA9, LAMB1, THBS1, FLNB, CASP7, SFN, ACTN1, COL5A3, CDH1, ITGB7, GRB2, PARVG, IBSP, COL4A2, PLEC, EGF, YWHAQ, COL6A3, CHAD, VASP, PARVA, ITGB6, COL6A2, COL11A1, COL2A1, COMP, LAMA3, ITGAL, TNN, ERBB3, LAMA2, COL24A1, COL6A1, HRAS, FLNC, COL27A1, COL4A1, LAMB2, PXN, ACTN2, COL4A5, THBS4, BCAR1, FN1, MET, ZBTB17, COL4A6, LAMB3, COL6A6, CRKL, CD151, ITGB1, CRK, THBS2, PIK3CA, TLN1, TNR, SHC1, YWHAZ, SPP1, SRC, COL6A5, TNC, ITGA8, LAMA1, COL17A1, LAMC1, MYC

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CORUM
Gene1Gene2Direct InteractionComplexesNumber of shared interactorsShared genes in interaction
ITGB4ITGA6YesITGA6-ITGB4-Laminin10/12 complex;ITGA6-ITGB4-CD9 complex;ITGA6-ITGB4-FYN complex;ITGA6-ITGB4 complex;ITGA6-ITGB4-CD151 complex;ITGA6-ITGB4-LAMA5 complex;ITGA6-ITGB4-SHC1-GRB2 complex9CD151, CD9, LAMB1, LAMA5, LAMC1, GRB2, LAMB2, SHC1, FYN

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
ECM-receptor interactionhsa045126.092ITGB4, ITGA6
Focal adhesionhsa045104.922ITGB4, ITGA6
Hypertrophic cardiomyopathy (HCM)hsa054106.212ITGB4, ITGA6
Arrhythmogenic right ventricular cardiomyopathy (ARVC)hsa054126.322ITGB4, ITGA6
Regulation of actin cytoskeletonhsa048104.92ITGB4, ITGA6
Dilated cardiomyopathyhsa054146.082ITGB4, ITGA6
PI3K-Akt signaling pathwayhsa041514.212ITGB4, ITGA6

NET-GE enrichment

Term New enriched termICP valueGenes
Cardiovascular diseasesNEW5.060.023ITGB4, ITGA6
Dilated cardiomyopathy (hsa05414) -6.080.012ITGB4, ITGA6
Amoebiasis (hsa05146) NEW5.820.028ITGB4, ITGA6
Focal adhesion (hsa04510) -4.920.028ITGB4, ITGA6
Hypertrophic cardiomyopathy (HCM) (hsa05410) -6.210.005ITGB4, ITGA6
ECM-receptor interaction (hsa04512) -6.090.006ITGB4, ITGA6
Arrhythmogenic right ventricular cardiomyopathy (ARVC) (hsa05412) -6.320.007ITGB4, ITGA6
Cell motilityNEW4.90.029ITGB4, ITGA6
Regulation of actin cytoskeleton (hsa04810) -4.90.029ITGB4, ITGA6
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Laminin interactionsR-HSA-30001578.082ITGB4, ITGA6
Cell junction organizationR-HSA-4467286.512ITGB4, ITGA6
Cell-Cell communicationR-HSA-15009315.872ITGB4, ITGA6
Extracellular matrix organizationR-HSA-14742444.912ITGB4, ITGA6
Collagen formationR-HSA-14742906.562ITGB4, ITGA6
Syndecan interactionsR-HSA-30001708.232ITGB4, ITGA6
Non-integrin membrane-ECM interactionsR-HSA-30001717.12ITGB4, ITGA6
Assembly of collagen fibrils and other multimeric structuresR-HSA-20220907.22ITGB4, ITGA6
Type I hemidesmosome assemblyR-HSA-4461079.522ITGB4, ITGA6

NET-GE enrichment

Term New enriched termICP valueGenes
Laminin interactions (R-HSA-3000157) -8.080.0ITGB4, ITGA6
Cell junction organization (R-HSA-446728) -6.510.008ITGB4, ITGA6
Cell-Cell communication (R-HSA-1500931) -5.870.004ITGB4, ITGA6
Extracellular matrix organization (R-HSA-1474244) -4.910.016ITGB4, ITGA6
Collagen formation (R-HSA-1474290) -6.560.002ITGB4, ITGA6
Syndecan interactions (R-HSA-3000170) -8.230.0ITGB4, ITGA6
Non-integrin membrane-ECM interactions (R-HSA-3000171) -7.10.001ITGB4, ITGA6
Assembly of collagen fibrils and other multimeric structures (R-HSA-2022090) -7.20.001ITGB4, ITGA6
Type I hemidesmosome assembly (R-HSA-446107) -9.520.0ITGB4, ITGA6
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
insulin-like growth factor I binding (GO:0031994) 7.252ITGB4, ITGA6
growth factor binding (GO:0019838) 4.892ITGB4, ITGA6
neuregulin binding (GO:0038132) 8.132ITGB4, ITGA6
binding (GO:0005488) 0.182ITGB4, ITGA6
protein binding (GO:0005515) 0.462ITGB4, ITGA6
receptor binding (GO:0005102) 2.432ITGB4, ITGA6
insulin-like growth factor binding (GO:0005520) 6.372ITGB4, ITGA6

NET-GE enrichment

Term New enriched termICP valueGenes
integrin binding (GO:0005178) NEW5.070.01ITGB4, ITGA6
cell adhesion molecule binding (GO:0050839) NEW4.50.031ITGB4, ITGA6
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cellular component assembly (GO:0022607) 2.142ITGB4, ITGA6
digestive tract development (GO:0048565) 5.492ITGB4, ITGA6
cell differentiation (GO:0030154) 2.142ITGB4, ITGA6
organ morphogenesis (GO:0009887) 3.552ITGB4, ITGA6
movement of cell or subcellular component (GO:0006928) 2.612ITGB4, ITGA6
cell-matrix adhesion (GO:0007160) 5.132ITGB4, ITGA6
cell-substrate junction assembly (GO:0007044) 5.992ITGB4, ITGA6
signal transduction (GO:0007165) 1.282ITGB4, ITGA6
cell surface receptor signaling pathway (GO:0007166) 2.092ITGB4, ITGA6
anatomical structure morphogenesis (GO:0009653) 2.532ITGB4, ITGA6
regulation of biological process (GO:0050789) 0.452ITGB4, ITGA6
cellular component organization or biogenesis (GO:0071840) 1.222ITGB4, ITGA6
nail development (GO:0035878) 7.942ITGB4, ITGA6
cellular developmental process (GO:0048869) 1.822ITGB4, ITGA6
cellular component organization (GO:0016043) 1.242ITGB4, ITGA6
animal organ development (GO:0048513) 2.532ITGB4, ITGA6
biological regulation (GO:0065007) 0.392ITGB4, ITGA6
single-organism process (GO:0044699) 0.482ITGB4, ITGA6
extracellular structure organization (GO:0043062) 4.02ITGB4, ITGA6
biological adhesion (GO:0022610) 2.812ITGB4, ITGA6
anatomical structure formation involved in morphogenesis (GO:0048646) 3.012ITGB4, ITGA6
developmental process (GO:0032502) 1.362ITGB4, ITGA6
cell-substrate adhesion (GO:0031589) 4.752ITGB4, ITGA6
cell junction organization (GO:0034330) 4.512ITGB4, ITGA6
amelogenesis (GO:0097186) 7.532ITGB4, ITGA6
hemidesmosome assembly (GO:0031581) 7.242ITGB4, ITGA6
cellular process (GO:0009987) 0.262ITGB4, ITGA6
regulation of cellular process (GO:0050794) 0.52ITGB4, ITGA6
single-organism developmental process (GO:0044767) 1.492ITGB4, ITGA6
single-organism cellular process (GO:0044763) 0.652ITGB4, ITGA6
cell adhesion (GO:0007155) 2.822ITGB4, ITGA6
cell communication (GO:0007154) 3.042ITGB4, ITGA6
renal system development (GO:0072001) 6.732ITGB4, ITGA6
cell junction assembly (GO:0034329) 4.862ITGB4, ITGA6
anatomical structure development (GO:0048856) 1.582ITGB4, ITGA6
locomotion (GO:0040011) 2.912ITGB4, ITGA6
odontogenesis of dentin-containing tooth (GO:0042475) 5.522ITGB4, ITGA6
cell motility (GO:0048870) 3.022ITGB4, ITGA6
response to stimulus (GO:0050896) 1.222ITGB4, ITGA6
odontogenesis (GO:0042476) 5.192ITGB4, ITGA6
tube development (GO:0035295) 4.412ITGB4, ITGA6
extracellular matrix organization (GO:0030198) 4.012ITGB4, ITGA6
skin development (GO:0043588) 5.842ITGB4, ITGA6
system development (GO:0048731) 2.922ITGB4, ITGA6
integrin-mediated signaling pathway (GO:0007229) 5.172ITGB4, ITGA6

NET-GE enrichment

Term New enriched termICP valueGenes
cell-substrate adhesion (GO:0031589) -4.750.009ITGB4, ITGA6
tube development (GO:0035295) -4.410.011ITGB4, ITGA6
odontogenesis of dentin-containing tooth (GO:0042475) -5.520.002ITGB4, ITGA6
amelogenesis (GO:0097186) -7.530.0ITGB4, ITGA6
nail development (GO:0035878) -7.940.0ITGB4, ITGA6
cell projection assembly (GO:0030031) NEW4.190.02ITGB4, ITGA6
integrin-mediated signaling pathway (GO:0007229) -5.170.003ITGB4, ITGA6
cell junction organization (GO:0034330) -4.510.015ITGB4, ITGA6
cell junction assembly (GO:0034329) -4.860.011ITGB4, ITGA6
cell-matrix adhesion (GO:0007160) -5.130.005ITGB4, ITGA6
cell-substrate junction assembly (GO:0007044) -5.990.001ITGB4, ITGA6
odontogenesis (GO:0042476) -5.190.004ITGB4, ITGA6
digestive tract development (GO:0048565) -5.490.03ITGB4, ITGA6
renal system development (GO:0072001) -6.730.0ITGB4, ITGA6
filopodium assembly (GO:0046847) NEW6.90.0ITGB4, ITGA6
hemidesmosome assembly (GO:0031581) -7.240.0ITGB4, ITGA6
skin development (GO:0043588) -5.840.008ITGB4, ITGA6
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
protein complex (GO:0043234) 1.512ITGB4, ITGA6
receptor complex (GO:0043235) 4.012ITGB4, ITGA6
protein complex involved in cell adhesion (GO:0098636) 6.372ITGB4, ITGA6
macromolecular complex (GO:0032991) 1.352ITGB4, ITGA6
plasma membrane protein complex (GO:0098797) 3.552ITGB4, ITGA6
plasma membrane part (GO:0044459) 1.952ITGB4, ITGA6
integral component of membrane (GO:0016021) 1.142ITGB4, ITGA6
membrane (GO:0016020) 0.682ITGB4, ITGA6
cell part (GO:0044464) 0.112ITGB4, ITGA6
plasma membrane receptor complex (GO:0098802) 4.632ITGB4, ITGA6
extracellular region part (GO:0044421) 1.572ITGB4, ITGA6
integrin complex (GO:0008305) 6.372ITGB4, ITGA6
membrane protein complex (GO:0098796) 2.842ITGB4, ITGA6
intrinsic component of membrane (GO:0031224) 1.132ITGB4, ITGA6
plasma membrane (GO:0005886) 1.392ITGB4, ITGA6
membrane part (GO:0044425) 0.952ITGB4, ITGA6
hemidesmosome (GO:0030056) 7.862ITGB4, ITGA6
cell surface (GO:0009986) 3.442ITGB4, ITGA6
cell junction (GO:0030054) 2.752ITGB4, ITGA6
cell-substrate junction (GO:0030055) 3.822ITGB4, ITGA6

NET-GE enrichment

Term New enriched termICP valueGenes
receptor complex (GO:0043235) -4.010.008ITGB4, ITGA6
protein complex involved in cell adhesion (GO:0098636) -6.370.0ITGB4, ITGA6
basement membrane (GO:0005604) NEW5.340.009ITGB4, ITGA6
plasma membrane region (GO:0098590) NEW2.970.019ITGB4, ITGA6
hemidesmosome (GO:0030056) -7.860.0ITGB4, ITGA6
cell surface (GO:0009986) -3.440.028ITGB4, ITGA6
integrin complex (GO:0008305) -6.370.0ITGB4, ITGA6
extracellular matrix part (GO:0044420) NEW4.970.002ITGB4, ITGA6
basal plasma membrane (GO:0009925) NEW6.340.001ITGB4, ITGA6
cell-substrate junction (GO:0030055) -3.820.016ITGB4, ITGA6