Disease table of ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB OMIM ID: 612781

Gene-disease associations table

GeneAssociated with ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
GHRHRClinVar, OMIM, HUMSAVARHGNC link7p14.31612781
GH1ClinVar, OMIM, HUMSAVARHGNC link17q23.34262650, 262400, 612781, 173100

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
GH1YES2HNF4A, POU1F10
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
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Neuroactive ligand-receptor interactionhsa040804.582GH1, GHRHR

NET-GE enrichment

Term New enriched termICP valueGenes
Neuroactive ligand-receptor interaction (hsa04080) -4.580.028GH1, GHRHR
REACTOME pathways annotation: shared terms (no NET-GE enrichment)

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Signal TransductionR-HSA-1625821.782GH1, GHRHR
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.182GH1, GHRHR
protein binding (GO:0005515) 0.462GH1, GHRHR
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) 4.672GH1, GHRHR
regulation of developmental growth (GO:0048638) 4.042GH1, GHRHR
regulation of phosphate metabolic process (GO:0019220) 2.352GH1, GHRHR
regulation of primary metabolic process (GO:0080090) 1.082GH1, GHRHR
regulation of metabolic process (GO:0019222) 1.022GH1, GHRHR
regulation of transport (GO:0051049) 2.242GH1, GHRHR
positive regulation of cell communication (GO:0010647) 2.412GH1, GHRHR
positive regulation of response to stimulus (GO:0048584) 2.182GH1, GHRHR
regulation of response to stimulus (GO:0048583) 1.542GH1, GHRHR
positive regulation of signaling (GO:0023056) 2.412GH1, GHRHR
response to organic cyclic compound (GO:0014070) 3.072GH1, GHRHR
signal transduction (GO:0007165) 1.282GH1, GHRHR
cell surface receptor signaling pathway (GO:0007166) 2.092GH1, GHRHR
regulation of signaling (GO:0023051) 1.722GH1, GHRHR
intracellular signal transduction (GO:0035556) 2.392GH1, GHRHR
regulation of cell communication (GO:0010646) 1.732GH1, GHRHR
developmental maturation (GO:0021700) 4.72GH1, GHRHR
regulation of biological process (GO:0050789) 0.452GH1, GHRHR
positive regulation of catalytic activity (GO:0043085) 2.42GH1, GHRHR
positive regulation of metabolic process (GO:0009893) 1.742GH1, GHRHR
response to lipid (GO:0033993) 3.112GH1, GHRHR
regulation of insulin-like growth factor receptor signaling pathway (GO:0043567) 6.642GH1, GHRHR
regulation of signal transduction (GO:0009966) 1.842GH1, GHRHR
positive regulation of signal transduction (GO:0009967) 2.52GH1, GHRHR
regulation of growth (GO:0040008) 3.262GH1, GHRHR
regulation of protein metabolic process (GO:0051246) 1.932GH1, GHRHR
localization (GO:0051179) 1.42GH1, GHRHR
regulation of developmental process (GO:0050793) 2.12GH1, GHRHR
biological regulation (GO:0065007) 0.392GH1, GHRHR
single-organism process (GO:0044699) 0.482GH1, GHRHR
positive regulation of molecular function (GO:0044093) 2.232GH1, GHRHR
organic substance transport (GO:0071702) 2.152GH1, GHRHR
positive regulation of biological process (GO:0048518) 1.22GH1, GHRHR
regulation of molecular function (GO:0065009) 1.782GH1, GHRHR
positive regulation of cellular metabolic process (GO:0031325) 1.812GH1, GHRHR
developmental process (GO:0032502) 1.362GH1, GHRHR
transport (GO:0006810) 1.512GH1, GHRHR
positive regulation of phosphate metabolic process (GO:0045937) 2.782GH1, GHRHR
positive regulation of transport (GO:0051050) 2.92GH1, GHRHR
regulation of macromolecule metabolic process (GO:0060255) 1.082GH1, GHRHR
regulation of cellular metabolic process (GO:0031323) 1.072GH1, GHRHR
regulation of catalytic activity (GO:0050790) 1.972GH1, GHRHR
regulation of cellular process (GO:0050794) 0.52GH1, GHRHR
single-organism developmental process (GO:0044767) 1.492GH1, GHRHR
single-organism transport (GO:0044765) 2.182GH1, GHRHR
regulation of multicellular organismal process (GO:0051239) 1.872GH1, GHRHR
response to chemical (GO:0042221) 1.982GH1, GHRHR
establishment of localization (GO:0051234) 1.482GH1, GHRHR
response to organic substance (GO:0010033) 2.22GH1, GHRHR
single-organism localization (GO:1902578) 2.092GH1, GHRHR
response to oxygen-containing compound (GO:1901700) 2.572GH1, GHRHR
regulation of phosphorus metabolic process (GO:0051174) 2.352GH1, GHRHR
regulation of multicellular organism growth (GO:0040014) 5.482GH1, GHRHR
positive regulation of developmental process (GO:0051094) 2.772GH1, GHRHR
positive regulation of growth (GO:0045927) 4.252GH1, GHRHR
positive regulation of multicellular organism growth (GO:0040018) 6.172GH1, GHRHR
response to stimulus (GO:0050896) 1.222GH1, GHRHR
regulation of localization (GO:0032879) 1.942GH1, GHRHR
positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568) 7.242GH1, GHRHR
positive regulation of multicellular organismal process (GO:0051240) 2.492GH1, GHRHR
positive regulation of phosphorus metabolic process (GO:0010562) 2.782GH1, GHRHR
positive regulation of cellular process (GO:0048522) 1.32GH1, GHRHR

NET-GE enrichment

Term New enriched termICP valueGenes
regulation of insulin-like growth factor receptor signaling pathway (GO:0043567) -6.640.0GH1, GHRHR
cellular response to peptide hormone stimulus (GO:0071375) NEW4.630.044GH1, GHRHR
positive regulation of growth (GO:0045927) -4.250.018GH1, GHRHR
positive regulation of multicellular organism growth (GO:0040018) -6.170.008GH1, GHRHR
regulation of multicellular organism growth (GO:0040014) -5.480.03GH1, GHRHR
positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568) -7.240.0GH1, GHRHR
cellular response to peptide (GO:1901653) NEW4.520.049GH1, GHRHR
response to estrogen (GO:0043627) NEW5.250.017GH1, GHRHR
developmental maturation (GO:0021700) -4.70.015GH1, GHRHR
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cell part (GO:0044464) 0.112GH1, GHRHR