Disease table of EPIDERMOLYTIC HYPERKERATOSIS OMIM ID: 113800

Gene-disease associations table

GeneAssociated with EPIDERMOLYTIC HYPERKERATOSIS inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
KRT1ClinVar, OMIM, HUMSAVARHGNC link12q13.136144200, 113800, 607602, 607654, 146590, 600962
KRT10ClinVar, OMIM, HUMSAVARHGNC link17q21.23113800, 607602, 609165

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
KRT10YES1HOXA70
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
KRT1KRT10Yes46EPS15, FN1, NPHP4, AP2M1, POU5F1, CUL1, ADRB2, ESR1, DCUN1D1, INPPL1, CUL4A, HNRNPA1, PAN2, EIF4A3, COPS6, MAGOH, CRK, KRT2, CUL4B, PIK3R2, GAN, ALB, COPS5, KRT77, RPS6KB2, IQCB1, SHC1, UCHL5, ITGA4, UBASH3B, KRT5, SFN, CEP290, NPHP1, CUL2, VCAM1, HDGF, CUL5, NEDD8, CBL, TJP1, CAND1, INVS, PRSS1, GRB2, CUL3

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

Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
KRT1KRT10No-2UBC, MAGOH

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

Interactions from CORUM
Interactions from CENSUS
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
KRT1KRT10Yes1KRT2

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

Interactions from PDB
Gene1Gene2InteractionNumber of common interactorsCommon genes in interaction
KRT1KRT10Yes2KRT1, KRT10

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

Interactions from manually curated literature
KEGG pathways annotation: NET-GE enrichment (no shared terms)

NET-GE enrichment

Term New enriched termICP valueGenes
Staphylococcus aureus infection (hsa05150) NEW6.640.04KRT1, KRT10
REACTOME pathways annotation: shared terms / NET-GE enrichment (no shared terms)
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
structural molecule activity (GO:0005198) 3.12KRT1, KRT10

NET-GE enrichment

Term New enriched termICP valueGenes
structural molecule activity (GO:0005198) -3.10.011KRT1, KRT10
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
single-organism process (GO:0044699) 0.482KRT1, KRT10
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
intracellular membrane-bounded organelle (GO:0043231) 0.62KRT1, KRT10
supramolecular fiber (GO:0099512) 3.312KRT1, KRT10
vesicle (GO:0031982) 1.642KRT1, KRT10
extracellular region part (GO:0044421) 1.572KRT1, KRT10
extracellular space (GO:0005615) 2.632KRT1, KRT10
nucleus (GO:0005634) 1.072KRT1, KRT10
membrane (GO:0016020) 0.682KRT1, KRT10
cell part (GO:0044464) 0.112KRT1, KRT10
extracellular exosome (GO:0070062) 1.892KRT1, KRT10
membrane-bounded vesicle (GO:0031988) 1.712KRT1, KRT10
intracellular organelle part (GO:0044446) 0.812KRT1, KRT10
intracellular organelle (GO:0043229) 0.512KRT1, KRT10
cytoskeletal part (GO:0044430) 2.492KRT1, KRT10
organelle part (GO:0044422) 0.792KRT1, KRT10
intracellular part (GO:0044424) 0.282KRT1, KRT10
extracellular organelle (GO:0043230) 1.892KRT1, KRT10
extracellular vesicle (GO:1903561) 1.892KRT1, KRT10
membrane-bounded organelle (GO:0043227) 0.472KRT1, KRT10
organelle (GO:0043226) 0.42KRT1, KRT10
intermediate filament (GO:0005882) 4.482KRT1, KRT10
polymeric cytoskeletal fiber (GO:0099513) 3.312KRT1, KRT10

NET-GE enrichment

Term New enriched termICP valueGenes
keratin filament (GO:0045095) NEW5.210.001KRT1, KRT10
intermediate filament (GO:0005882) -4.480.003KRT1, KRT10