Disease table of POLYCYSTIC LIVER DISEASE OMIM ID: PS174050

Gene-disease associations table

GeneAssociated with POLYCYSTIC LIVER DISEASE inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
PRKCSHClinVar, OMIMHGNC link19p13.21PS174050
SEC63ClinVar, OMIMHGNC link6q211PS174050
LRP5ClinVarHGNC link11q13.29144750, 166710, PS133780, PS174050, 601884, 173900, 607636, 259770, PS607634

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
LRP5YES4SP1, VDR, KLF15, RUNX20
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
PRKCSHSEC63No5TCTN3, ACADM, HSPA5, TCTN1, NTRK1

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
PRKCSHSEC63No-2UBC, CANX

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

Interactions from CORUM
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
Protein processing in endoplasmic reticulumhsa041415.352SEC63, PRKCSH

NET-GE enrichment

Term New enriched termICP valueGenes
Protein processing in endoplasmic reticulum (hsa04141) -5.350.014SEC63, PRKCSH
REACTOME pathways annotation: shared terms (no NET-GE enrichment)

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Metabolism of proteinsR-HSA-3924993.412SEC63, PRKCSH
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.183LRP5, SEC63, PRKCSH
protein binding (GO:0005515) 0.463LRP5, SEC63, PRKCSH
organic cyclic compound binding (GO:0097159) 1.052SEC63, PRKCSH
molecular transducer activity (GO:0060089) 2.322LRP5, SEC63
receptor activity (GO:0004872) 2.322LRP5, SEC63
nucleic acid binding (GO:0003676) 1.442SEC63, PRKCSH
heterocyclic compound binding (GO:1901363) 1.062SEC63, PRKCSH
RNA binding (GO:0003723) 2.362SEC63, PRKCSH
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
developmental process (GO:0032502) 1.363LRP5, SEC63, PRKCSH
single-organism process (GO:0044699) 0.483LRP5, SEC63, PRKCSH
multicellular organismal process (GO:0032501) 1.453LRP5, SEC63, PRKCSH
single-multicellular organism process (GO:0044707) 1.783LRP5, SEC63, PRKCSH
cellular process (GO:0009987) 0.263LRP5, SEC63, PRKCSH
cellular component organization (GO:0016043) 1.243LRP5, SEC63, PRKCSH
regulation of cellular process (GO:0050794) 0.53LRP5, SEC63, PRKCSH
single-organism developmental process (GO:0044767) 1.493LRP5, SEC63, PRKCSH
animal organ development (GO:0048513) 2.533LRP5, SEC63, PRKCSH
biological regulation (GO:0065007) 0.393LRP5, SEC63, PRKCSH
signal transduction (GO:0007165) 1.283LRP5, SEC63, PRKCSH
metabolic process (GO:0008152) 0.583LRP5, SEC63, PRKCSH
multicellular organism development (GO:0007275) 2.543LRP5, SEC63, PRKCSH
system development (GO:0048731) 2.923LRP5, SEC63, PRKCSH
regulation of biological process (GO:0050789) 0.453LRP5, SEC63, PRKCSH
cellular component organization or biogenesis (GO:0071840) 1.223LRP5, SEC63, PRKCSH
anatomical structure development (GO:0048856) 1.583LRP5, SEC63, PRKCSH
macromolecular complex subunit organization (GO:0043933) 2.142LRP5, PRKCSH
regulation of cellular component organization (GO:0051128) 2.012LRP5, PRKCSH
nitrogen compound metabolic process (GO:0006807) 1.132SEC63, PRKCSH
liver development (GO:0001889) 4.982SEC63, PRKCSH
single-organism metabolic process (GO:0044710) 1.632LRP5, PRKCSH
protein complex subunit organization (GO:0071822) 2.62LRP5, PRKCSH
negative regulation of multicellular organismal process (GO:0051241) 2.842LRP5, PRKCSH
organic substance metabolic process (GO:0071704) 0.632LRP5, PRKCSH
negative regulation of biological process (GO:0048519) 1.332LRP5, PRKCSH
transport (GO:0006810) 1.512LRP5, SEC63
negative regulation of cell differentiation (GO:0045596) 3.332LRP5, PRKCSH
regulation of cell differentiation (GO:0045595) 2.422LRP5, PRKCSH
single-organism cellular process (GO:0044763) 0.652LRP5, SEC63
regulation of multicellular organismal process (GO:0051239) 1.872LRP5, PRKCSH
single-organism carbohydrate metabolic process (GO:0044723) 3.422LRP5, PRKCSH
renal system development (GO:0072001) 6.732SEC63, PRKCSH
establishment of localization (GO:0051234) 1.482LRP5, SEC63
localization (GO:0051179) 1.42LRP5, SEC63
primary metabolic process (GO:0044238) 0.692LRP5, PRKCSH
carbohydrate metabolic process (GO:0005975) 3.262LRP5, PRKCSH
gland development (GO:0048732) 4.152SEC63, PRKCSH
negative regulation of cellular process (GO:0048523) 1.412LRP5, PRKCSH

NET-GE enrichment

Term New enriched termICP valueGenes
aging (GO:0007568) NEW4.160.029LRP5, SEC63, PRKCSH
renal system development (GO:0072001) -6.730.001SEC63, PRKCSH
liver development (GO:0001889) -4.980.021SEC63, PRKCSH
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
intracellular membrane-bounded organelle (GO:0043231) 0.63LRP5, SEC63, PRKCSH
cell part (GO:0044464) 0.113LRP5, SEC63, PRKCSH
cytoplasmic part (GO:0044444) 0.823LRP5, SEC63, PRKCSH
intracellular organelle (GO:0043229) 0.513LRP5, SEC63, PRKCSH
intracellular part (GO:0044424) 0.283LRP5, SEC63, PRKCSH
membrane-bounded organelle (GO:0043227) 0.473LRP5, SEC63, PRKCSH
organelle (GO:0043226) 0.43LRP5, SEC63, PRKCSH
endoplasmic reticulum (GO:0005783) 2.563LRP5, SEC63, PRKCSH
integral component of membrane (GO:0016021) 1.142LRP5, SEC63
membrane (GO:0016020) 0.682LRP5, SEC63
intracellular organelle part (GO:0044446) 0.812SEC63, PRKCSH
endoplasmic reticulum part (GO:0044432) 2.732SEC63, PRKCSH
organelle part (GO:0044422) 0.792SEC63, PRKCSH
membrane part (GO:0044425) 0.952LRP5, SEC63
intrinsic component of membrane (GO:0031224) 1.132LRP5, SEC63

NET-GE enrichment

Term New enriched termICP valueGenes
endoplasmic reticulum (GO:0005783) -2.560.002LRP5, SEC63, PRKCSH