Disease table of ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA OMIM ID: 133200

Gene-disease associations table

GeneAssociated with ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
GJA1ClinVar, OMIM, HUMSAVARHGNC link6q22.318257850, 186100, 164200, 133200, 104100, PS606215, 218400, PS241550
GJB3ClinVar, OMIM, HUMSAVARHGNC link1p34.33133200, PS124900, PS220290
GJB4ClinVar, OMIM, HUMSAVARHGNC link1p34.31133200

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Common tandem groupNumber of genes in this tandem group associated to this diseaseGenes in this tandem group associated to this disease
Group 242GJB4, GJB3
Cytogenetic band analysis
By sub-band
Shared sub_bandNumber of genes associated with the diseaseGenes associated with the disease
1p34.32GJB4, GJB3
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
1p342GJB4, GJB3
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
1p32GJB4, GJB3
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
1p2GJB4, GJB3
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
12GJB4, GJB3
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
GJA1YES2SP1, JUN0
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
GJA1GJB3No1CNST

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

Interactions from BIOGRID - genetic
Interactions from STRING
Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
Gene1Gene2Direct interactionMore information
GJA1GJB3maybe, indirectThey are connexin of different types.
GJA1GJB4maybe, indirectThey are connexin of different types.
GJB3GJB4maybe, indirectThey are connexin of different types.
KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Membrane TraffickingR-HSA-1999915.263GJB3, GJB4, GJA1
Gap junction traffickingR-HSA-1908287.593GJB3, GJB4, GJA1
Vesicle-mediated transportR-HSA-56536564.333GJB3, GJB4, GJA1
Gap junction trafficking and regulationR-HSA-1578587.523GJB3, GJB4, GJA1
Gap junction assemblyR-HSA-1908618.033GJB3, GJB4, GJA1

NET-GE enrichment

Term New enriched termICP valueGenes
Gap junction trafficking (R-HSA-190828) -7.590.0GJB3, GJB4, GJA1
Gap junction assembly (R-HSA-190861) -8.030.0GJB3, GJB4, GJA1
Membrane Trafficking (R-HSA-199991) -5.260.008GJB3, GJB4, GJA1
Gap junction trafficking and regulation (R-HSA-157858) -7.520.0GJB3, GJB4, GJA1
Vesicle-mediated transport (R-HSA-5653656) -4.330.047GJB3, GJB4, GJA1
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
transporter activity (GO:0005215) 2.572GJB3, GJA1
transmembrane transporter activity (GO:0022857) 2.822GJB3, GJA1
channel activity (GO:0015267) 3.62GJB3, GJA1
wide pore channel activity (GO:0022829) 6.62GJB3, GJA1
passive transmembrane transporter activity (GO:0022803) 3.62GJB3, GJA1
gap junction channel activity (GO:0005243) 7.12GJB3, GJA1

NET-GE enrichment

Term New enriched termICP valueGenes
passive transmembrane transporter activity (GO:0022803) -3.60.014GJB3, GJA1
channel activity (GO:0015267) -3.60.014GJB3, GJA1
gap junction channel activity (GO:0005243) -7.10.0GJB3, GJA1
wide pore channel activity (GO:0022829) -6.60.001GJB3, GJA1
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
multicellular organismal process (GO:0032501) 1.453GJB3, GJB4, GJA1
cellular process (GO:0009987) 0.263GJB3, GJB4, GJA1
single-organism cellular process (GO:0044763) 0.653GJB3, GJB4, GJA1
cell communication (GO:0007154) 3.043GJB3, GJB4, GJA1
single-organism process (GO:0044699) 0.483GJB3, GJB4, GJA1
system process (GO:0003008) 2.33GJB3, GJB4, GJA1
developmental process (GO:0032502) 1.362GJB3, GJA1
transport (GO:0006810) 1.512GJB3, GJA1
in utero embryonic development (GO:0001701) 4.42GJB3, GJA1
transmembrane transport (GO:0055085) 2.722GJB3, GJA1
single-multicellular organism process (GO:0044707) 1.782GJB3, GJA1
neurological system process (GO:0050877) 2.642GJB3, GJB4
anatomical structure development (GO:0048856) 1.582GJB3, GJA1
sensory perception (GO:0007600) 2.932GJB3, GJB4
localization (GO:0051179) 1.42GJB3, GJA1
single-organism developmental process (GO:0044767) 1.492GJB3, GJA1
embryo development (GO:0009790) 4.22GJB3, GJA1
animal organ development (GO:0048513) 2.532GJB3, GJA1
embryo development ending in birth or egg hatching (GO:0009792) 4.352GJB3, GJA1
chordate embryonic development (GO:0043009) 4.382GJB3, GJA1
establishment of localization (GO:0051234) 1.482GJB3, GJA1
multicellular organism development (GO:0007275) 2.542GJB3, GJA1

NET-GE enrichment

Term New enriched termICP valueGenes
chemosensory behavior (GO:0007635) NEW7.020.003GJB4, GJA1
olfactory behavior (GO:0042048) NEW7.780.001GJB4, GJA1
cell communication (GO:0007154) -3.040.027GJB3, GJB4, GJA1
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
protein complex (GO:0043234) 1.513GJB3, GJB4, GJA1
macromolecular complex (GO:0032991) 1.353GJB3, GJB4, GJA1
plasma membrane part (GO:0044459) 1.953GJB3, GJB4, GJA1
integral component of membrane (GO:0016021) 1.143GJB3, GJB4, GJA1
membrane (GO:0016020) 0.683GJB3, GJB4, GJA1
cell part (GO:0044464) 0.113GJB3, GJB4, GJA1
plasma membrane protein complex (GO:0098797) 3.553GJB3, GJB4, GJA1
membrane protein complex (GO:0098796) 2.843GJB3, GJB4, GJA1
cell junction (GO:0030054) 2.753GJB3, GJB4, GJA1
cell-cell junction (GO:0005911) 3.853GJB3, GJB4, GJA1
plasma membrane (GO:0005886) 1.393GJB3, GJB4, GJA1
membrane part (GO:0044425) 0.953GJB3, GJB4, GJA1
connexon complex (GO:0005922) 6.713GJB3, GJB4, GJA1
intrinsic component of membrane (GO:0031224) 1.133GJB3, GJB4, GJA1
gap junction (GO:0005921) 6.343GJB3, GJB4, GJA1
cytoplasm (GO:0005737) 1.012GJB3, GJA1
intracellular part (GO:0044424) 0.282GJB3, GJA1

NET-GE enrichment

Term New enriched termICP valueGenes
connexon complex (GO:0005922) -6.710.0GJB3, GJB4, GJA1
gap junction (GO:0005921) -6.340.0GJB3, GJA1