Disease table of RENAL-HEPATIC-PANCREATIC DYSPLASIA OMIM ID: PS208540

Gene-disease associations table

GeneAssociated with RENAL-HEPATIC-PANCREATIC DYSPLASIA inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
NPHP3ClinVar, OMIM, HUMSAVARHGNC link3q22.13PS249000, PS208540, PS256100
NEK8ClinVar, OMIMHGNC link17q11.22PS256100, PS208540

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
Gene1Gene2Direct interactionMore information
NEK8NPHP3yes, complexThey are components of a complex containing ANKS6, INVS, NEK8 and NPHP3. [UniProt]
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
catalytic activity (GO:0003824) 1.052NPHP3, NEK8
binding (GO:0005488) 0.182NPHP3, NEK8
protein binding (GO:0005515) 0.462NPHP3, NEK8
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
developmental process (GO:0032502) 1.362NPHP3, NEK8
multicellular organismal process (GO:0032501) 1.452NPHP3, NEK8
organ morphogenesis (GO:0009887) 3.552NPHP3, NEK8
regulation of cell communication (GO:0010646) 1.732NPHP3, NEK8
single-multicellular organism process (GO:0044707) 1.782NPHP3, NEK8
pattern specification process (GO:0007389) 3.792NPHP3, NEK8
regulation of signal transduction (GO:0009966) 1.842NPHP3, NEK8
determination of left/right symmetry (GO:0007368) 5.382NPHP3, NEK8
cellular process (GO:0009987) 0.262NPHP3, NEK8
regulation of response to stimulus (GO:0048583) 1.542NPHP3, NEK8
regulation of cellular process (GO:0050794) 0.52NPHP3, NEK8
single-organism developmental process (GO:0044767) 1.492NPHP3, NEK8
determination of bilateral symmetry (GO:0009855) 5.372NPHP3, NEK8
animal organ development (GO:0048513) 2.532NPHP3, NEK8
biological regulation (GO:0065007) 0.392NPHP3, NEK8
regulation of signaling (GO:0023051) 1.722NPHP3, NEK8
specification of symmetry (GO:0009799) 5.362NPHP3, NEK8
anatomical structure morphogenesis (GO:0009653) 2.532NPHP3, NEK8
regulation of biological process (GO:0050789) 0.452NPHP3, NEK8
single-organism process (GO:0044699) 0.482NPHP3, NEK8
anatomical structure development (GO:0048856) 1.582NPHP3, NEK8
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
primary cilium (GO:0072372) 4.642NPHP3, NEK8
cell part (GO:0044464) 0.112NPHP3, NEK8
cilium (GO:0005929) 3.892NPHP3, NEK8
intracellular part (GO:0044424) 0.282NPHP3, NEK8
cell projection (GO:0042995) 2.472NPHP3, NEK8
organelle (GO:0043226) 0.42NPHP3, NEK8
organelle part (GO:0044422) 0.792NPHP3, NEK8

NET-GE enrichment

Term New enriched termICP valueGenes
cell projection (GO:0042995) -2.470.041NPHP3, NEK8
primary cilium (GO:0072372) -4.640.004NPHP3, NEK8
cilium (GO:0005929) -3.890.026NPHP3, NEK8