Disease table of DENT DISEASE OMIM ID: PS300009

Gene-disease associations table

GeneAssociated with DENT DISEASE inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
OCRLOMIM, HUMSAVARHGNC linkXq26.12PS300009, 309000
CLCN5ClinVar, OMIM, HUMSAVARHGNC linkXp11.234PS193100, PS300009, 310468, 308990

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
X2OCRL, CLCN5
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
CLCN5YES1TFAP40
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
OCRLCLCN5No1NTRK1

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
KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)
REACTOME pathways annotation: shared terms / NET-GE enrichment (no shared terms)
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.182CLCN5, OCRL
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
multicellular organismal process (GO:0032501) 1.452CLCN5, OCRL
biological regulation (GO:0065007) 0.392CLCN5, OCRL
regulation of biological process (GO:0050789) 0.452CLCN5, OCRL
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
intracellular organelle (GO:0043229) 0.512CLCN5, OCRL
membrane-bounded organelle (GO:0043227) 0.472CLCN5, OCRL
organelle (GO:0043226) 0.42CLCN5, OCRL
endosome membrane (GO:0010008) 3.832CLCN5, OCRL
organelle membrane (GO:0031090) 1.972CLCN5, OCRL
vacuole (GO:0005773) 2.922CLCN5, OCRL
whole membrane (GO:0098805) 2.852CLCN5, OCRL
membrane (GO:0016020) 0.682CLCN5, OCRL
vacuolar membrane (GO:0005774) 3.452CLCN5, OCRL
Golgi apparatus part (GO:0044431) 3.02CLCN5, OCRL
vacuolar part (GO:0044437) 3.262CLCN5, OCRL
Golgi apparatus (GO:0005794) 2.72CLCN5, OCRL
bounding membrane of organelle (GO:0098588) 2.392CLCN5, OCRL
plasma membrane (GO:0005886) 1.392CLCN5, OCRL
intracellular membrane-bounded organelle (GO:0043231) 0.62CLCN5, OCRL
cell part (GO:0044464) 0.112CLCN5, OCRL
intracellular organelle part (GO:0044446) 0.812CLCN5, OCRL
cytoplasmic part (GO:0044444) 0.822CLCN5, OCRL
endosomal part (GO:0044440) 3.732CLCN5, OCRL
intracellular part (GO:0044424) 0.282CLCN5, OCRL
membrane part (GO:0044425) 0.952CLCN5, OCRL
endosome (GO:0005768) 3.252CLCN5, OCRL
organelle part (GO:0044422) 0.792CLCN5, OCRL

NET-GE enrichment

Term New enriched termICP valueGenes
endosomal part (GO:0044440) -3.730.028CLCN5, OCRL
endosome membrane (GO:0010008) -3.830.026CLCN5, OCRL