Disease table of GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL OMIM ID: 615925

Gene-disease associations table

GeneAssociated with GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
GHSRClinVar, OMIM, HUMSAVARHGNC link3q26.312615925, 604271
GHRClinVarHGNC link5p13.14604271, 262500, 143890, 615925

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
GHRYES1POU1F10
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
GHSRGHRNo-1LEP

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
Gene1Gene2Direct interactionMore information
GHRGHSRyes, they interactThe soluble form of GHR (GHBP) acts as a reservoir of growth hormone in plasma and may be a modulator/inhibitor of GH signaling and interacts with GHSR. [UniProt]
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Neuroactive ligand-receptor interactionhsa040804.582GHR, GHSR

NET-GE enrichment

Term New enriched termICP valueGenes
Neuroactive ligand-receptor interaction (hsa04080) -4.580.034GHR, GHSR
Cytokine-cytokine receptor interaction (hsa04060) NEW4.670.045GHR, GHSR
REACTOME pathways annotation: shared terms (no NET-GE enrichment)

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Signal TransductionR-HSA-1625821.782GHR, GHSR
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
peptide hormone binding (GO:0017046) 6.132GHR, GHSR
signaling receptor activity (GO:0038023) 2.492GHR, GHSR
amide binding (GO:0033218) 4.142GHR, GHSR
molecular transducer activity (GO:0060089) 2.322GHR, GHSR
transmembrane signaling receptor activity (GO:0004888) 2.572GHR, GHSR
binding (GO:0005488) 0.182GHR, GHSR
signal transducer activity (GO:0004871) 2.282GHR, GHSR
peptide binding (GO:0042277) 4.222GHR, GHSR
hormone binding (GO:0042562) 5.532GHR, GHSR
transmembrane receptor activity (GO:0099600) 2.532GHR, GHSR
receptor activity (GO:0004872) 2.322GHR, GHSR

NET-GE enrichment

Term New enriched termICP valueGenes
peptide hormone binding (GO:0017046) -6.130.001GHR, GHSR
peptide binding (GO:0042277) -4.220.004GHR, GHSR
amide binding (GO:0033218) -4.140.004GHR, GHSR
hormone binding (GO:0042562) -5.530.003GHR, GHSR
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
positive regulation of developmental growth (GO:0048639) 4.672GHR, GHSR
regulation of developmental growth (GO:0048638) 4.042GHR, GHSR
response to extracellular stimulus (GO:0009991) 3.712GHR, GHSR
anatomical structure development (GO:0048856) 1.582GHR, GHSR
regulation of primary metabolic process (GO:0080090) 1.082GHR, GHSR
regulation of metabolic process (GO:0019222) 1.022GHR, GHSR
positive regulation of cellular metabolic process (GO:0031325) 1.812GHR, GHSR
positive regulation of response to stimulus (GO:0048584) 2.182GHR, GHSR
regulation of response to stimulus (GO:0048583) 1.542GHR, GHSR
positive regulation of signaling (GO:0023056) 2.412GHR, GHSR
cellular response to hormone stimulus (GO:0032870) 3.992GHR, GHSR
signal transduction (GO:0007165) 1.282GHR, GHSR
cellular response to chemical stimulus (GO:0070887) 2.572GHR, GHSR
regulation of signaling (GO:0023051) 1.722GHR, GHSR
cellular response to insulin stimulus (GO:0032869) 5.292GHR, GHSR
response to insulin (GO:0032868) 4.722GHR, GHSR
positive regulation of cell communication (GO:0010647) 2.412GHR, GHSR
regulation of cell communication (GO:0010646) 1.732GHR, GHSR
regulation of biological process (GO:0050789) 0.452GHR, GHSR
single-organism process (GO:0044699) 0.482GHR, GHSR
positive regulation of metabolic process (GO:0009893) 1.742GHR, GHSR
hormone-mediated signaling pathway (GO:0009755) 4.662GHR, GHSR
cellular response to stimulus (GO:0051716) 1.972GHR, GHSR
response to food (GO:0032094) 6.732GHR, GHSR
cellular response to peptide hormone stimulus (GO:0071375) 4.632GHR, GHSR
regulation of signal transduction (GO:0009966) 1.842GHR, GHSR
positive regulation of signal transduction (GO:0009967) 2.52GHR, GHSR
positive regulation of multicellular organismal process (GO:0051240) 2.492GHR, GHSR
response to nitrogen compound (GO:1901698) 3.122GHR, GHSR
regulation of protein metabolic process (GO:0051246) 1.932GHR, GHSR
localization (GO:0051179) 1.42GHR, GHSR
regulation of developmental process (GO:0050793) 2.12GHR, GHSR
cellular response to organic substance (GO:0071310) 2.782GHR, GHSR
biological regulation (GO:0065007) 0.392GHR, GHSR
positive regulation of biological process (GO:0048518) 1.22GHR, GHSR
negative regulation of biological process (GO:0048519) 1.332GHR, GHSR
developmental process (GO:0032502) 1.362GHR, GHSR
response to endogenous stimulus (GO:0009719) 2.792GHR, GHSR
multicellular organismal process (GO:0032501) 1.452GHR, GHSR
regulation of macromolecule metabolic process (GO:0060255) 1.082GHR, GHSR
regulation of cellular metabolic process (GO:0031323) 1.072GHR, GHSR
transport (GO:0006810) 1.512GHR, GHSR
regulation of cellular process (GO:0050794) 0.52GHR, GHSR
single-organism transport (GO:0044765) 2.182GHR, GHSR
single-organism cellular process (GO:0044763) 0.652GHR, GHSR
regulation of multicellular organismal process (GO:0051239) 1.872GHR, GHSR
response to chemical (GO:0042221) 1.982GHR, GHSR
response to peptide hormone (GO:0043434) 4.062GHR, GHSR
establishment of localization (GO:0051234) 1.482GHR, GHSR
response to organic substance (GO:0010033) 2.22GHR, GHSR
single-organism localization (GO:1902578) 2.092GHR, GHSR
regulation of multicellular organism growth (GO:0040014) 5.482GHR, GHSR
response to oxygen-containing compound (GO:1901700) 2.572GHR, GHSR
cellular response to oxygen-containing compound (GO:1901701) 3.222GHR, GHSR
response to external stimulus (GO:0009605) 2.552GHR, GHSR
single-multicellular organism process (GO:0044707) 1.782GHR, GHSR
positive regulation of developmental process (GO:0051094) 2.772GHR, GHSR
positive regulation of growth (GO:0045927) 4.252GHR, GHSR
response to hormone (GO:0009725) 3.332GHR, GHSR
response to organonitrogen compound (GO:0010243) 3.22GHR, GHSR
cellular response to nitrogen compound (GO:1901699) 3.792GHR, GHSR
response to nutrient levels (GO:0031667) 3.772GHR, GHSR
regulation of growth (GO:0040008) 3.262GHR, GHSR
cellular response to endogenous stimulus (GO:0071495) 3.332GHR, GHSR
cellular response to organonitrogen compound (GO:0071417) 3.872GHR, GHSR
response to peptide (GO:1901652) 3.942GHR, GHSR
cellular response to peptide (GO:1901653) 4.522GHR, GHSR
positive regulation of multicellular organism growth (GO:0040018) 6.172GHR, GHSR
cellular process (GO:0009987) 0.262GHR, GHSR
response to stimulus (GO:0050896) 1.222GHR, GHSR
negative regulation of cellular process (GO:0048523) 1.412GHR, GHSR
positive regulation of cellular process (GO:0048522) 1.32GHR, GHSR

NET-GE enrichment

Term New enriched termICP valueGenes
positive regulation of multicellular organism growth (GO:0040018) -6.170.001GHR, GHSR
positive regulation of growth (GO:0045927) -4.250.025GHR, GHSR
regulation of multicellular organism growth (GO:0040014) -5.480.004GHR, GHSR
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
integral component of membrane (GO:0016021) 1.142GHR, GHSR
membrane (GO:0016020) 0.682GHR, GHSR
cell part (GO:0044464) 0.112GHR, GHSR
neuron part (GO:0097458) 2.642GHR, GHSR
plasma membrane (GO:0005886) 1.392GHR, GHSR
membrane part (GO:0044425) 0.952GHR, GHSR
cell surface (GO:0009986) 3.442GHR, GHSR
intrinsic component of membrane (GO:0031224) 1.132GHR, GHSR

NET-GE enrichment

Term New enriched termICP valueGenes
cell surface (GO:0009986) -3.440.015GHR, GHSR