Disease table of GROWTH HORMONE INSENSITIVITY, PARTIAL OMIM ID: 604271

Gene-disease associations table

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Gene	Associated with GROWTH HORMONE INSENSITIVITY, PARTIAL in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
GHR	ClinVar, OMIM, HUMSAVAR	HGNC link	5p13.1	4	604271, 262500, 143890, 615925
GHSR	ClinVar	HGNC link	3q26.31	2	615925, 604271

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Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD

Cytogenetic band analysis

Transcription Factors (TF) annotation from TRRUST

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regulated gene	associated to this disease	# TFs	TFs	# TFs associated with this disease	TFs associated with this disease
GHR	YES	1	POU1F1	0

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Interactions from BIOGRID - physical

Interactions from BIOGRID - genetic

Interactions from STRING

Gene1	Gene2	Direct Interaction	Interaction mode	Number of shared interactors	Shared genes in interaction
GHSR	GHR	No	-	1	LEP

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

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Gene1	Gene2	Direct interaction	More information
GHR	GHSR	yes, they interact	The 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]

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KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG term	KEGG term ID	IC	Number of genes with the same term	Genes
Neuroactive ligand-receptor interaction	hsa04080	4.58	2	GHR, GHSR

NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
Cytokine-cytokine receptor interaction (hsa04060)	NEW	4.67	0.045	GHR, GHSR
Neuroactive ligand-receptor interaction (hsa04080)	-	4.58	0.034	GHR, GHSR

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

Shared terms

REACTOME term	REACTOME term ID	IC	Number of genes with the same term	Genes
Signal Transduction	R-HSA-162582	1.78	2	GHR, GHSR

GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
peptide hormone binding (GO:0017046)	6.13	2	GHR, GHSR
hormone binding (GO:0042562)	5.53	2	GHR, GHSR
peptide binding (GO:0042277)	4.22	2	GHR, GHSR
amide binding (GO:0033218)	4.14	2	GHR, GHSR
transmembrane signaling receptor activity (GO:0004888)	2.57	2	GHR, GHSR
transmembrane receptor activity (GO:0099600)	2.53	2	GHR, GHSR
signaling receptor activity (GO:0038023)	2.49	2	GHR, GHSR
molecular transducer activity (GO:0060089)	2.32	2	GHR, GHSR
receptor activity (GO:0004872)	2.32	2	GHR, GHSR
signal transducer activity (GO:0004871)	2.28	2	GHR, GHSR

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
peptide hormone binding (GO:0017046)	-	6.13	0.001	GHR, GHSR
hormone binding (GO:0042562)	-	5.53	0.003	GHR, GHSR
peptide binding (GO:0042277)	-	4.22	0.004	GHR, GHSR
amide binding (GO:0033218)	-	4.14	0.004	GHR, GHSR

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GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
response to food (GO:0032094)	6.73	2	GHR, GHSR
positive regulation of multicellular organism growth (GO:0040018)	6.17	2	GHR, GHSR
regulation of multicellular organism growth (GO:0040014)	5.48	2	GHR, GHSR
cellular response to insulin stimulus (GO:0032869)	5.29	2	GHR, GHSR
response to insulin (GO:0032868)	4.72	2	GHR, GHSR
positive regulation of developmental growth (GO:0048639)	4.67	2	GHR, GHSR
hormone-mediated signaling pathway (GO:0009755)	4.66	2	GHR, GHSR
cellular response to peptide hormone stimulus (GO:0071375)	4.63	2	GHR, GHSR
cellular response to peptide (GO:1901653)	4.52	2	GHR, GHSR
positive regulation of growth (GO:0045927)	4.25	2	GHR, GHSR

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
positive regulation of multicellular organism growth (GO:0040018)	-	6.17	0.001	GHR, GHSR
regulation of multicellular organism growth (GO:0040014)	-	5.48	0.004	GHR, GHSR
positive regulation of growth (GO:0045927)	-	4.25	0.025	GHR, GHSR

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GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
cell surface (GO:0009986)	3.44	2	GHR, GHSR
neuron part (GO:0097458)	2.64	2	GHR, GHSR
plasma membrane (GO:0005886)	1.39	2	GHR, GHSR
integral component of membrane (GO:0016021)	1.14	2	GHR, GHSR
intrinsic component of membrane (GO:0031224)	1.13	2	GHR, GHSR
membrane part (GO:0044425)	0.95	2	GHR, GHSR
membrane (GO:0016020)	0.68	2	GHR, GHSR
cell part (GO:0044464)	0.11	2	GHR, GHSR

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