Disease table of POLYCYSTIC KIDNEY DISEASE 1 OMIM ID: 173900

Gene-disease associations table

GeneAssociated with POLYCYSTIC KIDNEY DISEASE 1 inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
PKD1ClinVar, OMIM, HUMSAVARHGNC link16p13.31173900
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
Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
PKD1LRP5No-2CDH1, CTNNB1

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 (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
transporter activity (GO:0005215) 2.572LRP5, PKD1
binding (GO:0005488) 0.182LRP5, PKD1
protein binding (GO:0005515) 0.462LRP5, PKD1
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
regulation of phosphate metabolic process (GO:0019220) 2.352LRP5, PKD1
regulation of primary metabolic process (GO:0080090) 1.082LRP5, PKD1
regulation of metabolic process (GO:0019222) 1.022LRP5, PKD1
regulation of transport (GO:0051049) 2.242LRP5, PKD1
signal transduction (GO:0007165) 1.282LRP5, PKD1
positive regulation of cell cycle (GO:0045787) 3.942LRP5, PKD1
animal organ development (GO:0048513) 2.532LRP5, PKD1
positive regulation of molecular function (GO:0044093) 2.232LRP5, PKD1
positive regulation of biological process (GO:0048518) 1.22LRP5, PKD1
negative regulation of biological process (GO:0048519) 1.332LRP5, PKD1
regulation of macromolecule metabolic process (GO:0060255) 1.082LRP5, PKD1
regulation of protein kinase activity (GO:0045859) 3.152LRP5, PKD1
regulation of RNA biosynthetic process (GO:2001141) 1.552LRP5, PKD1
regulation of phosphorylation (GO:0042325) 2.52LRP5, PKD1
single-multicellular organism process (GO:0044707) 1.782LRP5, PKD1
chemical homeostasis (GO:0048878) 2.972LRP5, PKD1
positive regulation of metabolic process (GO:0009893) 1.742LRP5, PKD1
positive regulation of biosynthetic process (GO:0009891) 2.292LRP5, PKD1
morphogenesis of a branching structure (GO:0001763) 4.712LRP5, PKD1
regulation of protein transport (GO:0051223) 3.122LRP5, PKD1
regulation of biological process (GO:0050789) 0.452LRP5, PKD1
regulation of mitotic cell cycle (GO:0007346) 3.712LRP5, PKD1
regulation of kinase activity (GO:0043549) 3.072LRP5, PKD1
biological regulation (GO:0065007) 0.392LRP5, PKD1
regulation of molecular function (GO:0065009) 1.782LRP5, PKD1
regulation of biological quality (GO:0065008) 1.682LRP5, PKD1
regulation of establishment of protein localization (GO:0070201) 3.022LRP5, PKD1
regulation of catalytic activity (GO:0050790) 1.972LRP5, PKD1
transport (GO:0006810) 1.512LRP5, PKD1
regulation of biosynthetic process (GO:0009889) 1.372LRP5, PKD1
tissue development (GO:0009888) 3.272LRP5, PKD1
regulation of cellular process (GO:0050794) 0.52LRP5, PKD1
metabolic process (GO:0008152) 0.582LRP5, PKD1
establishment of localization (GO:0051234) 1.482LRP5, PKD1
positive regulation of macromolecule metabolic process (GO:0010604) 1.812LRP5, PKD1
regulation of phosphorus metabolic process (GO:0051174) 2.352LRP5, PKD1
regulation of transferase activity (GO:0051338) 2.882LRP5, PKD1
regulation of transcription, DNA-templated (GO:0006355) 1.562LRP5, PKD1
positive regulation of macromolecule biosynthetic process (GO:0010557) 2.392LRP5, PKD1
regulation of transcription from RNA polymerase II promoter (GO:0006357) 2.242LRP5, PKD1
regulation of protein metabolic process (GO:0051246) 1.932LRP5, PKD1
anatomical structure morphogenesis (GO:0009653) 2.532LRP5, PKD1
single-organism process (GO:0044699) 0.482LRP5, PKD1
regulation of protein localization (GO:0032880) 2.882LRP5, PKD1
regulation of cell cycle process (GO:0010564) 3.52LRP5, PKD1
regulation of protein modification process (GO:0031399) 2.322LRP5, PKD1
epithelial tube morphogenesis (GO:0060562) 5.122LRP5, PKD1
positive regulation of nucleic acid-templated transcription (GO:1903508) 2.562LRP5, PKD1
multicellular organismal process (GO:0032501) 1.452LRP5, PKD1
tube morphogenesis (GO:0035239) 4.352LRP5, PKD1
cellular process (GO:0009987) 0.262LRP5, PKD1
regulation of nucleic acid-templated transcription (GO:1903506) 1.552LRP5, PKD1
positive regulation of transcription, DNA-templated (GO:0045893) 2.562LRP5, PKD1
regulation of localization (GO:0032879) 1.942LRP5, PKD1
regulation of cellular protein metabolic process (GO:0032268) 1.992LRP5, PKD1
regulation of RNA metabolic process (GO:0051252) 1.522LRP5, PKD1
positive regulation of RNA metabolic process (GO:0051254) 2.512LRP5, PKD1
positive regulation of RNA biosynthetic process (GO:1902680) 2.542LRP5, PKD1
positive regulation of gene expression (GO:0010628) 2.352LRP5, PKD1
positive regulation of transcription from RNA polymerase II promoter (GO:0045944) 2.812LRP5, PKD1
system development (GO:0048731) 2.922LRP5, PKD1
developmental process (GO:0032502) 1.362LRP5, PKD1
regulation of cellular localization (GO:0060341) 3.032LRP5, PKD1
positive regulation of cellular biosynthetic process (GO:0031328) 2.32LRP5, PKD1
regulation of cellular biosynthetic process (GO:0031326) 1.382LRP5, PKD1
positive regulation of cellular metabolic process (GO:0031325) 1.812LRP5, PKD1
regulation of cellular metabolic process (GO:0031323) 1.072LRP5, PKD1
branching morphogenesis of an epithelial tube (GO:0048754) 4.932LRP5, PKD1
homeostatic process (GO:0042592) 2.612LRP5, PKD1
multicellular organism development (GO:0007275) 2.542LRP5, PKD1
morphogenesis of an epithelium (GO:0002009) 4.082LRP5, PKD1
regulation of protein serine/threonine kinase activity (GO:0071900) 3.582LRP5, PKD1
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.462LRP5, PKD1
organic substance metabolic process (GO:0071704) 0.632LRP5, PKD1
regulation of macromolecule biosynthetic process (GO:0010556) 1.432LRP5, PKD1
tissue morphogenesis (GO:0048729) 3.872LRP5, PKD1
regulation of gene expression (GO:0010468) 1.372LRP5, PKD1
positive regulation of nucleobase-containing compound metabolic process (GO:0045935) 2.352LRP5, PKD1
morphogenesis of a branching epithelium (GO:0061138) 4.772LRP5, PKD1
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.432LRP5, PKD1
single-organism developmental process (GO:0044767) 1.492LRP5, PKD1
single-organism cellular process (GO:0044763) 0.652LRP5, PKD1
regulation of nitrogen compound metabolic process (GO:0051171) 1.362LRP5, PKD1
positive regulation of nitrogen compound metabolic process (GO:0051173) 2.292LRP5, PKD1
localization (GO:0051179) 1.42LRP5, PKD1
primary metabolic process (GO:0044238) 0.692LRP5, PKD1
regulation of cell cycle (GO:0051726) 2.932LRP5, PKD1
anatomical structure development (GO:0048856) 1.582LRP5, PKD1
regulation of protein phosphorylation (GO:0001932) 2.572LRP5, PKD1
negative regulation of cellular process (GO:0048523) 1.412LRP5, PKD1
positive regulation of cellular process (GO:0048522) 1.32LRP5, PKD1

NET-GE enrichment

Term New enriched termICP valueGenes
termination of G-protein coupled receptor signaling pathway (GO:0038032) NEW9.730.012LRP5, PKD1
positive regulation of cell cycle (GO:0045787) -3.940.019LRP5, PKD1
morphogenesis of a branching epithelium (GO:0061138) -4.770.033LRP5, PKD1
branching morphogenesis of an epithelial tube (GO:0048754) -4.930.025LRP5, PKD1
termination of signal transduction (GO:0023021) NEW8.340.015LRP5, PKD1
morphogenesis of a branching structure (GO:0001763) -4.710.036LRP5, PKD1
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
protein complex (GO:0043234) 1.512LRP5, PKD1
macromolecular complex (GO:0032991) 1.352LRP5, PKD1
intracellular membrane-bounded organelle (GO:0043231) 0.62LRP5, PKD1
plasma membrane part (GO:0044459) 1.952LRP5, PKD1
integral component of membrane (GO:0016021) 1.142LRP5, PKD1
membrane (GO:0016020) 0.682LRP5, PKD1
cell part (GO:0044464) 0.112LRP5, PKD1
cytoplasmic part (GO:0044444) 0.822LRP5, PKD1
intracellular organelle (GO:0043229) 0.512LRP5, PKD1
plasma membrane (GO:0005886) 1.392LRP5, PKD1
intracellular part (GO:0044424) 0.282LRP5, PKD1
membrane part (GO:0044425) 0.952LRP5, PKD1
membrane-bounded organelle (GO:0043227) 0.472LRP5, PKD1
organelle (GO:0043226) 0.42LRP5, PKD1
intrinsic component of membrane (GO:0031224) 1.132LRP5, PKD1