Disease table of ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA OMIM ID: 262400

Gene-disease associations table

GeneAssociated with ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
GH1ClinVar, OMIMHGNC link17q23.34262650, 262400, 612781, 173100
XRCC4ClinVarHGNC link5q14.22616541, 262400

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 (no shared terms)
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Metabolism of proteinsR-HSA-3924993.412XRCC4, GH1

NET-GE enrichment

Term New enriched termICP valueGenes
HIV Infection (R-HSA-162906) NEW5.220.034XRCC4, GH1
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.182XRCC4, GH1
protein binding (GO:0005515) 0.462GH1, XRCC4
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
response to stimulus (GO:0050896) 1.222XRCC4, GH1
regulation of catalytic activity (GO:0050790) 1.972GH1, XRCC4
biological regulation (GO:0065007) 0.392GH1, XRCC4
positive regulation of molecular function (GO:0044093) 2.232XRCC4, GH1
response to chemical (GO:0042221) 1.982XRCC4, GH1
regulation of molecular function (GO:0065009) 1.782GH1, XRCC4
positive regulation of catalytic activity (GO:0043085) 2.42XRCC4, GH1
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, XRCC4