GHR (growth hormone receptor)

Download as csv Download as pdf

Log in to bookmark this gene

Bookmark This Gene

Title Project / Tag (optional) Note (optional)

Cancel Save

On this page

Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 2690
• Gene name: Growth hormone receptor
• Gene symbol: GHR
• Synonyms (NCBI Gene): GHBP, GHIP
• Chromosome: 5
• Chromosome location: 5p13.1-p12
• Summary: This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal tran

SNPs Show/Hide all (34)

SNP ID	Visualize variation	Clinical significance	Consequence
rs6177	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs6180	A>C,G	Risk-factor, benign	Coding sequence variant, 3 prime UTR variant, missense variant
rs6413484	G>A,T	Benign, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs45588036	G>C	Pathogenic	Coding sequence variant, missense variant
rs114025919	G>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs121909357	T>C	Pathogenic	Coding sequence variant, missense variant
rs121909358	C>A,G,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant, missense variant
rs121909359	C>A	Pathogenic	Stop gained, coding sequence variant
rs121909360	A>G	Pathogenic	Synonymous variant, coding sequence variant
rs121909361	G>A	Pathogenic	Coding sequence variant, missense variant
rs121909362	C>T	Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs121909363	C>T	Pathogenic	Stop gained, coding sequence variant
rs121909364	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs121909365	C>A	Pathogenic	Coding sequence variant, missense variant
rs121909366	G>C	Pathogenic	Coding sequence variant, missense variant
rs121909367	T>C	Pathogenic	Coding sequence variant, missense variant
rs121909368	A>C,T	Pathogenic	Coding sequence variant, missense variant
rs121909369	T>A,G	Pathogenic	Coding sequence variant, missense variant
rs121909370	G>A,C	Pathogenic	Stop gained, coding sequence variant, intron variant, missense variant
rs121909371	C>A	Pathogenic	Stop gained, coding sequence variant
rs121909372	G>C	Pathogenic	Coding sequence variant, missense variant
rs121909373	T>C,G	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs140501920	A>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs143814221	T>C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs190314158	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs730880281	G>T	Pathogenic	Splice acceptor variant
rs730880282	G>C	Pathogenic	Coding sequence variant, missense variant
rs730880308	G>C	Pathogenic	Splice acceptor variant, intron variant
rs886037910	T>C	Pathogenic	Coding sequence variant, missense variant
rs1060499692	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1554040858	G>A	Pathogenic	Coding sequence variant, synonymous variant, intron variant
rs1579626395	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1579636931	AGGA>GGG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1579675001	G>A	Pathogenic	Intron variant, splice donor variant

miRNA Show/Hide all (210)

miRTarBase ID	miRNA	Experiments	Reference
MIRT1018420	hsa-miR-1261	CLIP-seq
MIRT1018421	hsa-miR-1270	CLIP-seq
MIRT1018422	hsa-miR-1276	CLIP-seq
MIRT1018423	hsa-miR-128	CLIP-seq
MIRT1018424	hsa-miR-1285	CLIP-seq
MIRT1018425	hsa-miR-1296	CLIP-seq
MIRT1018426	hsa-miR-142-3p	CLIP-seq
MIRT1018427	hsa-miR-2054	CLIP-seq
MIRT1018428	hsa-miR-2909	CLIP-seq
MIRT1018429	hsa-miR-3065-5p	CLIP-seq
MIRT1018430	hsa-miR-3120-5p	CLIP-seq
MIRT1018431	hsa-miR-3158-3p	CLIP-seq
MIRT1018432	hsa-miR-3163	CLIP-seq
MIRT1018433	hsa-miR-3187-5p	CLIP-seq
MIRT1018434	hsa-miR-3664-5p	CLIP-seq
MIRT1018435	hsa-miR-3668	CLIP-seq
MIRT1018436	hsa-miR-3689a-3p	CLIP-seq
MIRT1018437	hsa-miR-3689c	CLIP-seq
MIRT1018438	hsa-miR-3689d	CLIP-seq
MIRT1018439	hsa-miR-3924	CLIP-seq
MIRT1018440	hsa-miR-3926	CLIP-seq
MIRT1018441	hsa-miR-4280	CLIP-seq
MIRT1018442	hsa-miR-4302	CLIP-seq
MIRT1018443	hsa-miR-4311	CLIP-seq
MIRT1018444	hsa-miR-4424	CLIP-seq
MIRT1018445	hsa-miR-4433	CLIP-seq
MIRT1018446	hsa-miR-4446-3p	CLIP-seq
MIRT1018447	hsa-miR-4459	CLIP-seq
MIRT1018448	hsa-miR-4492	CLIP-seq
MIRT1018449	hsa-miR-4498	CLIP-seq
MIRT1018450	hsa-miR-4505	CLIP-seq
MIRT1018451	hsa-miR-4522	CLIP-seq
MIRT1018452	hsa-miR-4648	CLIP-seq
MIRT1018453	hsa-miR-4654	CLIP-seq
MIRT1018454	hsa-miR-4683	CLIP-seq
MIRT1018455	hsa-miR-4728-5p	CLIP-seq
MIRT1018456	hsa-miR-4768-3p	CLIP-seq
MIRT1018457	hsa-miR-4769-5p	CLIP-seq
MIRT1018458	hsa-miR-4786-5p	CLIP-seq
MIRT1018459	hsa-miR-4793-5p	CLIP-seq
MIRT1018460	hsa-miR-548aa	CLIP-seq
MIRT1018461	hsa-miR-548g	CLIP-seq
MIRT1018462	hsa-miR-548p	CLIP-seq
MIRT1018463	hsa-miR-548s	CLIP-seq
MIRT1018464	hsa-miR-564	CLIP-seq
MIRT1018465	hsa-miR-583	CLIP-seq
MIRT1018466	hsa-miR-612	CLIP-seq
MIRT1018467	hsa-miR-620	CLIP-seq
MIRT1018468	hsa-miR-649	CLIP-seq
MIRT1018469	hsa-miR-762	CLIP-seq
MIRT1018470	hsa-miR-944	CLIP-seq
MIRT1018471	hsa-let-7a	CLIP-seq
MIRT1018472	hsa-let-7b	CLIP-seq
MIRT1018473	hsa-let-7c	CLIP-seq
MIRT1018474	hsa-let-7d	CLIP-seq
MIRT1018475	hsa-let-7e	CLIP-seq
MIRT1018476	hsa-let-7f	CLIP-seq
MIRT1018477	hsa-let-7g	CLIP-seq
MIRT1018478	hsa-let-7i	CLIP-seq
MIRT1018479	hsa-miR-1252	CLIP-seq
MIRT1018480	hsa-miR-202	CLIP-seq
MIRT1018429	hsa-miR-3065-5p	CLIP-seq
MIRT1018430	hsa-miR-3120-5p	CLIP-seq
MIRT1018481	hsa-miR-3150a-3p	CLIP-seq
MIRT1018482	hsa-miR-3175	CLIP-seq
MIRT1018434	hsa-miR-3664-5p	CLIP-seq
MIRT1018483	hsa-miR-3672	CLIP-seq
MIRT1018484	hsa-miR-3929	CLIP-seq
MIRT1018485	hsa-miR-4294	CLIP-seq
MIRT1018486	hsa-miR-4419b	CLIP-seq
MIRT1018487	hsa-miR-4458	CLIP-seq
MIRT1018488	hsa-miR-4478	CLIP-seq
MIRT1018489	hsa-miR-4499	CLIP-seq
MIRT1018490	hsa-miR-4500	CLIP-seq
MIRT1018451	hsa-miR-4522	CLIP-seq
MIRT1018491	hsa-miR-4667-5p	CLIP-seq
MIRT1018492	hsa-miR-4678	CLIP-seq
MIRT1018493	hsa-miR-4700-5p	CLIP-seq
MIRT1018494	hsa-miR-494	CLIP-seq
MIRT1018495	hsa-miR-548ae	CLIP-seq
MIRT1018496	hsa-miR-548aj	CLIP-seq
MIRT1018497	hsa-miR-548am	CLIP-seq
MIRT1018498	hsa-miR-548x	CLIP-seq
MIRT1018499	hsa-miR-637	CLIP-seq
MIRT1018500	hsa-miR-653	CLIP-seq
MIRT1018501	hsa-miR-939	CLIP-seq
MIRT1018502	hsa-miR-98	CLIP-seq
MIRT2001622	hsa-miR-1271	CLIP-seq
MIRT2001623	hsa-miR-129-5p	CLIP-seq
MIRT2001624	hsa-miR-182	CLIP-seq
MIRT2001625	hsa-miR-1827	CLIP-seq
MIRT2001626	hsa-miR-3622a-5p	CLIP-seq
MIRT2001627	hsa-miR-3664-3p	CLIP-seq
MIRT1018436	hsa-miR-3689a-3p	CLIP-seq
MIRT1018437	hsa-miR-3689c	CLIP-seq
MIRT1018484	hsa-miR-3929	CLIP-seq
MIRT1018486	hsa-miR-4419b	CLIP-seq
MIRT1018445	hsa-miR-4433	CLIP-seq
MIRT1018447	hsa-miR-4459	CLIP-seq
MIRT1018488	hsa-miR-4478	CLIP-seq
MIRT2001628	hsa-miR-4642	CLIP-seq
MIRT2001629	hsa-miR-4649-3p	CLIP-seq
MIRT2001630	hsa-miR-4681	CLIP-seq
MIRT1018454	hsa-miR-4683	CLIP-seq
MIRT2001631	hsa-miR-4695-5p	CLIP-seq
MIRT1018455	hsa-miR-4728-5p	CLIP-seq
MIRT1018456	hsa-miR-4768-3p	CLIP-seq
MIRT2001632	hsa-miR-485-5p	CLIP-seq
MIRT2001633	hsa-miR-510	CLIP-seq
MIRT2001634	hsa-miR-512-5p	CLIP-seq
MIRT1018464	hsa-miR-564	CLIP-seq
MIRT2001635	hsa-miR-96	CLIP-seq
MIRT1018421	hsa-miR-1270	CLIP-seq
MIRT2234677	hsa-miR-15a	CLIP-seq
MIRT2234678	hsa-miR-15b	CLIP-seq
MIRT2234679	hsa-miR-16	CLIP-seq
MIRT2234680	hsa-miR-195	CLIP-seq
MIRT1018480	hsa-miR-202	CLIP-seq
MIRT2234681	hsa-miR-2276	CLIP-seq
MIRT2234682	hsa-miR-25	CLIP-seq
MIRT1018429	hsa-miR-3065-5p	CLIP-seq
MIRT2234683	hsa-miR-3074-5p	CLIP-seq
MIRT1018430	hsa-miR-3120-5p	CLIP-seq
MIRT2234684	hsa-miR-3123	CLIP-seq
MIRT2234685	hsa-miR-32	CLIP-seq
MIRT2234686	hsa-miR-3200-5p	CLIP-seq
MIRT2234687	hsa-miR-3613-3p	CLIP-seq
MIRT2234688	hsa-miR-363	CLIP-seq
MIRT1018434	hsa-miR-3664-5p	CLIP-seq
MIRT2234689	hsa-miR-3667-3p	CLIP-seq
MIRT1018435	hsa-miR-3668	CLIP-seq
MIRT2234690	hsa-miR-367	CLIP-seq
MIRT2234691	hsa-miR-3920	CLIP-seq
MIRT1018439	hsa-miR-3924	CLIP-seq
MIRT1018440	hsa-miR-3926	CLIP-seq
MIRT2234692	hsa-miR-424	CLIP-seq
MIRT2234693	hsa-miR-432	CLIP-seq
MIRT1018445	hsa-miR-4433	CLIP-seq
MIRT2234694	hsa-miR-4434	CLIP-seq
MIRT1018447	hsa-miR-4459	CLIP-seq
MIRT2234695	hsa-miR-4516	CLIP-seq
MIRT1018451	hsa-miR-4522	CLIP-seq
MIRT2234696	hsa-miR-4524	CLIP-seq
MIRT2234697	hsa-miR-4531	CLIP-seq
MIRT2234698	hsa-miR-4540	CLIP-seq
MIRT1018454	hsa-miR-4683	CLIP-seq
MIRT2234699	hsa-miR-4696	CLIP-seq
MIRT2234700	hsa-miR-4699-3p	CLIP-seq
MIRT1018456	hsa-miR-4768-3p	CLIP-seq
MIRT1018458	hsa-miR-4786-5p	CLIP-seq
MIRT1018459	hsa-miR-4793-5p	CLIP-seq
MIRT2234701	hsa-miR-497	CLIP-seq
MIRT2234702	hsa-miR-503	CLIP-seq
MIRT1018460	hsa-miR-548aa	CLIP-seq
MIRT1018463	hsa-miR-548s	CLIP-seq
MIRT2234703	hsa-miR-593	CLIP-seq
MIRT1018467	hsa-miR-620	CLIP-seq
MIRT2234704	hsa-miR-646	CLIP-seq
MIRT2234705	hsa-miR-92a	CLIP-seq
MIRT2234706	hsa-miR-92b	CLIP-seq
MIRT1018430	hsa-miR-3120-5p	CLIP-seq
MIRT2388442	hsa-miR-3182	CLIP-seq
MIRT2388443	hsa-miR-4659a-3p	CLIP-seq
MIRT2388444	hsa-miR-4659b-3p	CLIP-seq
MIRT2388445	hsa-miR-4796-5p	CLIP-seq
MIRT2388442	hsa-miR-3182	CLIP-seq
MIRT2437409	hsa-miR-4327	CLIP-seq
MIRT2437410	hsa-miR-4427	CLIP-seq
MIRT2388443	hsa-miR-4659a-3p	CLIP-seq
MIRT2388444	hsa-miR-4659b-3p	CLIP-seq
MIRT2437411	hsa-miR-4680-3p	CLIP-seq
MIRT1018429	hsa-miR-3065-5p	CLIP-seq
MIRT1018430	hsa-miR-3120-5p	CLIP-seq
MIRT2538694	hsa-miR-3155	CLIP-seq
MIRT2538695	hsa-miR-3155b	CLIP-seq
MIRT2538696	hsa-miR-3611	CLIP-seq
MIRT2234687	hsa-miR-3613-3p	CLIP-seq
MIRT1018434	hsa-miR-3664-5p	CLIP-seq
MIRT2538697	hsa-miR-409-3p	CLIP-seq
MIRT1018451	hsa-miR-4522	CLIP-seq
MIRT2538698	hsa-miR-4687-3p	CLIP-seq
MIRT2538699	hsa-miR-4785	CLIP-seq
MIRT2538700	hsa-miR-484	CLIP-seq
MIRT2234703	hsa-miR-593	CLIP-seq
MIRT1018429	hsa-miR-3065-5p	CLIP-seq
MIRT1018430	hsa-miR-3120-5p	CLIP-seq
MIRT2681562	hsa-miR-3122	CLIP-seq
MIRT2538694	hsa-miR-3155	CLIP-seq
MIRT2538695	hsa-miR-3155b	CLIP-seq
MIRT2681563	hsa-miR-3165	CLIP-seq
MIRT2388442	hsa-miR-3182	CLIP-seq
MIRT2538696	hsa-miR-3611	CLIP-seq
MIRT2234687	hsa-miR-3613-3p	CLIP-seq
MIRT1018434	hsa-miR-3664-5p	CLIP-seq
MIRT1018436	hsa-miR-3689a-3p	CLIP-seq
MIRT1018437	hsa-miR-3689c	CLIP-seq
MIRT2681564	hsa-miR-3913-5p	CLIP-seq
MIRT2538697	hsa-miR-409-3p	CLIP-seq
MIRT2437409	hsa-miR-4327	CLIP-seq
MIRT2437410	hsa-miR-4427	CLIP-seq
MIRT1018451	hsa-miR-4522	CLIP-seq
MIRT2388443	hsa-miR-4659a-3p	CLIP-seq
MIRT2388444	hsa-miR-4659b-3p	CLIP-seq
MIRT2437411	hsa-miR-4680-3p	CLIP-seq
MIRT2538698	hsa-miR-4687-3p	CLIP-seq
MIRT1018455	hsa-miR-4728-5p	CLIP-seq
MIRT2538699	hsa-miR-4785	CLIP-seq
MIRT1018458	hsa-miR-4786-5p	CLIP-seq
MIRT2538700	hsa-miR-484	CLIP-seq
MIRT2234703	hsa-miR-593	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
POU1F1	Activation	7529501

Gene ontology (GO) Show/Hide all (81)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004896	Function	Cytokine receptor activity	IEA
GO:0004903	Function	Growth hormone receptor activity	IBA
GO:0004903	Function	Growth hormone receptor activity	IDA	1549776, 2825030, 8943276
GO:0004903	Function	Growth hormone receptor activity	IEA
GO:0004903	Function	Growth hormone receptor activity	ISS	8063815
GO:0005515	Function	Protein binding	IPI	8943276, 9353194, 10502458, 10866662, 12907755, 17474147, 19167335, 25241761, 31279174
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	8137822, 9360546
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	IMP	2825030
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA	2825030
GO:0005886	Component	Plasma membrane	IDA	8137822
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006897	Process	Endocytosis	IEA
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	IEA
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	ISS	8063815
GO:0008284	Process	Positive regulation of cell population proliferation	IBA
GO:0008289	Function	Lipid binding	EXP	25846210
GO:0009629	Process	Response to gravity	IEA
GO:0009725	Process	Response to hormone	IEA
GO:0009755	Process	Hormone-mediated signaling pathway	IEA
GO:0009897	Component	External side of plasma membrane	IBA
GO:0009986	Component	Cell surface	IDA	8137822
GO:0016020	Component	Membrane	IDA	1549776
GO:0016020	Component	Membrane	IEA
GO:0017046	Function	Peptide hormone binding	IBA
GO:0017046	Function	Peptide hormone binding	IPI	1549776, 2825030, 8943276, 9571026
GO:0019221	Process	Cytokine-mediated signaling pathway	IBA
GO:0019530	Process	Taurine metabolic process	ISS
GO:0019838	Function	Growth factor binding	IPI	9360546
GO:0019901	Function	Protein kinase binding	IEA
GO:0019903	Function	Protein phosphatase binding	IEA
GO:0019955	Function	Cytokine binding	IBA
GO:0030296	Function	Protein tyrosine kinase activator activity	IEA
GO:0030296	Function	Protein tyrosine kinase activator activity	ISS	8063815
GO:0031623	Process	Receptor internalization	IDA	9360546
GO:0031623	Process	Receptor internalization	IDA	9360546
GO:0032094	Process	Response to food	IEA
GO:0032107	Process	Regulation of response to nutrient levels	IEA
GO:0032355	Process	Response to estradiol	IDA	12552091
GO:0032869	Process	Cellular response to insulin stimulus	IEA
GO:0032870	Process	Cellular response to hormone stimulus	IMP	7565946
GO:0034097	Process	Response to cytokine	IEA
GO:0036464	Component	Cytoplasmic ribonucleoprotein granule	IDA
GO:0040014	Process	Regulation of multicellular organism growth	ISS
GO:0040018	Process	Positive regulation of multicellular organism growth	IMP	2813379
GO:0042169	Function	SH2 domain binding	IEA
GO:0042445	Process	Hormone metabolic process	IMP	8137822
GO:0042802	Function	Identical protein binding	IPI	16116438
GO:0042803	Function	Protein homodimerization activity	IDA	1549776, 8137822, 8943276
GO:0043025	Component	Neuronal cell body	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	21980433
GO:0043235	Component	Receptor complex	IDA	8137822
GO:0043410	Process	Positive regulation of MAPK cascade	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	ISS	8063815
GO:0043434	Process	Response to peptide hormone	IEA
GO:0045597	Process	Positive regulation of cell differentiation	IEA
GO:0046427	Process	Positive regulation of receptor signaling pathway via JAK-STAT	IBA
GO:0046427	Process	Positive regulation of receptor signaling pathway via JAK-STAT	IEA
GO:0046898	Process	Response to cycloheximide	IDA	9360546
GO:0046898	Process	Response to cycloheximide	IDA	9360546
GO:0048009	Process	Insulin-like growth factor receptor signaling pathway	IMP	7565946
GO:0051384	Process	Response to glucocorticoid	IEA
GO:0060351	Process	Cartilage development involved in endochondral bone morphogenesis	IEA
GO:0060396	Process	Growth hormone receptor signaling pathway	IBA
GO:0060396	Process	Growth hormone receptor signaling pathway	IDA	1549776, 2825030, 8943276, 15690087
GO:0060396	Process	Growth hormone receptor signaling pathway	IEA
GO:0060396	Process	Growth hormone receptor signaling pathway	IMP	7565946
GO:0060397	Process	Growth hormone receptor signaling pathway via JAK-STAT	IDA	12552091, 15690087
GO:0060400	Process	Negative regulation of growth hormone receptor signaling pathway	IDA	21980433
GO:0060416	Process	Response to growth hormone	IEA
GO:0070064	Function	Proline-rich region binding	ISS	2825030
GO:0070195	Component	Growth hormone receptor complex	IBA
GO:0070195	Component	Growth hormone receptor complex	IDA	1549776, 8137822, 8943276, 9571026
GO:0070555	Process	Response to interleukin-1	IEA
GO:1990782	Function	Protein tyrosine kinase binding	IEA
GO:1990782	Function	Protein tyrosine kinase binding	ISS

Other IDs

• MIM: 600946
• HGNC: 4263
• e!Ensembl: ENSG00000112964

Protein

• UniProt ID: P10912
• Protein name: Growth hormone receptor (GH receptor) (Somatotropin receptor) [Cleaved into: Growth hormone-binding protein (GH-binding protein) (GHBP) (Serum-binding protein)]
• Protein function: Receptor for pituitary gland growth hormone (GH1) involved in regulating postnatal body growth (PubMed:1549776, PubMed:2825030, PubMed:8943276). On ligand binding, couples to the JAK2/STAT5 pathway (PubMed:1549776, PubMed:15690087, PubMed:282503
• PDB: 1A22 , 1AXI , 1HWG , 1HWH , 1KF9 , 2AEW , 3HHR , 5OEK , 5OHD , 6I5J , 6I5N
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00041	fn3	159 → 244	Fibronectin type III domain	Domain
  PF09067	EpoR_lig-bind	43 → 144	Erythropoietin receptor, ligand binding	Domain
  PF12772	GHBP	316 → 617	Growth hormone receptor binding	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in various tissues with high expression in liver and skeletal muscle. {ECO:0000269|PubMed:8855247}.; TISSUE SPECIFICITY: [Isoform 2]: Isoform 2 is expressed in lung, stomach and muscle. {ECO:0000269|PubMed:8855247}.; TISSUE S
• Sequence:

  MDLWQLLLTLALAGSSDAFSGSEATAAILSRAPWSLQSVNPGLKTNSSKEPKFTKCRSPE
  RETFSCHWTDEVHHGTKNLGPIQLFYTRRNTQEWTQEWKECPDYVSAGENSCYFNSSFTS
  IWIPYCIKLTSNGGTVDEKCFSVDEIVQPDPPIALNWTLLNVSLTGIHADIQVRWEAPRN
  ADIQKGWMVLEYELQYKEVNETKWKMMDPILTTSVPVYSLKVDKEYEVRVRSKQRNSGNY
  GEFSEVLYVTLPQMSQFTCEEDFYFPWLLIIIFGIFGLTVMLFVFLFSKQQRIKMLILPP
  VPVPKIKGIDPDLLKEGKLEEVNTILAIHDSYKPEFHSDDSWVEFIELDIDEPDEKTEES
  DTDRLLSSDHEKSHSNLGVKDGDSGRTSCCEPDILETDFNANDIHEGTSEVAQPQRLKGE
  ADLLCLDQKNQNNSPYHDACPATQQPSVIQAEKNKPQPLPTEGAESTHQAAHIQLSNPSS
  LSNIDFYAQVSDITPAGSVVLSPGQKNKAGMSQCDMHPEMVSLCQENFLMDNAYFCEADA
  KKCIPVAPHIKVESHIQPSLNQEDIYITTESLTTAAGRPGTGEHVPGSEMPVPDYTSIHI
  VQSPQGLILNATALPLPDKEFLSSCGYVSTDQLNKIMP

• Sequence length: 638

Pathways

KEGG Pathway	Reactome Pathway
Cytokine-cytokine receptor interaction	Prolactin receptor signaling
Neuroactive ligand-receptor interaction	Growth hormone receptor signaling
Hormone signaling
PI3K-Akt signaling pathway
JAK-STAT signaling pathway
Growth hormone synthesis, secretion and action

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal Show/Hide Causal Diseases (6)
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Growth hormone insensitivity syndrome	Pathogenic; Likely pathogenic	rs1194378231, rs121909359, rs121909365, rs1011727375, rs121909370	RCV004801039 RCV003317031 RCV005237361 RCV005887394 RCV003398476	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypercholesterolemia, familial, 1	Pathogenic	rs121909358, rs121909360, rs121909363	RCV005031429 RCV005031430 RCV005031431	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Laron syndrome with elevated serum GH-binding protein	Pathogenic	rs730880282, rs1579675001	RCV000009176 RCV000009182	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Laron syndrome with undetectable serum GH-binding protein	Pathogenic; Likely pathogenic	rs121909364, rs1758837026, rs121909365	RCV000009179 RCV000009181 RCV000009183	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Laron-type isolated somatotropin defect	Pathogenic; Likely pathogenic	rs1194378231, rs2112477601, rs121909357, rs121909358, rs121909359, rs121909360, rs121909363, rs1009412984, rs730880281, rs2530742503, rs121909368, rs121909369, rs121909367, rs1011727375, rs121909370, rs121909371, rs2530783457, rs121909372, rs1060499692, rs1554040858, rs1579626395, rs1757597156	RCV002279943 RCV001805740 RCV000009164 RCV000009165 RCV000009166 RCV000009167 RCV000009171 RCV000009172 RCV000009174 RCV000009175 RCV000009177 RCV000009180 RCV000009186 RCV000009187 RCV000009189 RCV000009191 RCV000009192 RCV000009194 RCV004813231 RCV000449581 RCV000582894 RCV000995550 RCV001078202	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Short stature due to partial GHR deficiency	Pathogenic	rs121909358, rs121909360, rs121909363, rs730880308, rs886037910	RCV005031429 RCV005031430 RCV005031431 RCV000009178 RCV000240723	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (32)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	35589863	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	40050429, 40645996	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	17547689	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	28284560	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC DISEASES	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GHR-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GROWTH HORMONE INSENSITIVITY, PARTIAL	—	HPO	7565946	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCHOLESTEROLEMIA, FAMILIAL	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPOPROTEINEMIA TYPE IIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	34343768	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monogenic short statue	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	16214533	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	40205036	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	40205036	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	40205036	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY DWARFISM	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	17220348	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short stature due to growth hormone secretagogue receptor deficiency	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPECIFIC LEARNING DISABILITY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	29924316	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	18204098	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (224)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
5-Alpha Reductase Deficiency	5-alpha reductase deficiency	BEFREE	31277073		★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	BEFREE	12372843, 12876416, 17573420, 18611972, 19089622, 19336510, 19439509, 19850678, 19864451, 20447065, 21744231, 22162472, 23648743, 24706164, 24866575, 25552351, 26243033, 26610414, 27001494, 27226307, 27513761, 27631335, 28100630, 28904008, 29371335, 29395968, 30394899, 30602026, 31342434, 31361303, 31392573, 31723069		★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	Pubtator	23648743, 39280003	Associate	★☆☆☆☆ Found in Text Mining only
Actinic keratosis	Actinic keratosis	LHGDN	12756585		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	29911897		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	17764692		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	23111975		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	15891957, 23288882, 27267119		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	15891957		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	17764692		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	27226307		★☆☆☆☆ Found in Text Mining only
Adult Craniopharyngioma	Craniopharyngioma	BEFREE	26246149		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	31603904		★☆☆☆☆ Found in Text Mining only
Androgenetic Alopecia	Androgenetic Alopecia	BEFREE	18160465		★☆☆☆☆ Found in Text Mining only
Arcus Senilis	Arcus Senilis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriovenous Malformations	Arteriovenous malformations	Pubtator	37864259	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	10890179	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CTD_human_DG	17547689		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Barrett Esophagus	Barrett esophagus	BEFREE	20403354		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	33300568	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary Atresia	BEFREE	9398004		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	10890179	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12431808, 16381017, 22442272, 24676793, 29022487, 30617282, 31754747, 7794815		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	11290538, 23192981, 24676793	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	23047741	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24134847	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10579357, 12431808		★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	24022308	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33317258, 36374927	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	18299312, 28967904		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	25301264	Associate	★☆☆☆☆ Found in Text Mining only
Carpal Tunnel Syndrome	Carpal Tunnel Syndrome	BEFREE	28301320		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	16572267		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	18832799		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	24463190, 31352157		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	11849991, 12044524, 9661639		★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	BEFREE	24654940, 28364893		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	28073935, 34614013	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	24307807		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	15481327, 15736405, 17764692, 24788673		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	17764692		★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	20190552, 37806643	Associate	★☆☆☆☆ Found in Text Mining only
Congenital atresia of extrahepatic bile duct	Extrahepatic Biliary Atresia	BEFREE	9398004		★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	18401200		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of pulmonary artery	Congenital Hypoplasia Of Pulmonary Artery	BEFREE	30720842		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30229899		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	25977383		★☆☆☆☆ Found in Text Mining only
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT	Craniometaphyseal Dysplasia	BEFREE	9382103		★☆☆☆☆ Found in Text Mining only
Craniopharyngioma	Craniopharyngioma	Pubtator	10890179	Associate	★☆☆☆☆ Found in Text Mining only
Craniopharyngioma	Craniopharyngioma	BEFREE	20647974, 26246149		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	17148664, 30483486		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	23740230		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Delayed menarche	Delayed menarche	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	31603904		★☆☆☆☆ Found in Text Mining only
Dental Caries	Dental caries	Pubtator	15869869	Associate	★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	30352204	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	11527082, 12372843, 21325617, 25316432, 29395968, 29459441, 30394899		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	17555507	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	11527082, 12372843, 12529387, 21325617, 25316432, 25977383, 29395968, 29459441, 30394899		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	31869513, 32928870, 36357677, 38623619	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	17537658, 21820924		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	11527082, 12529387		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	11467694		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	10102074, 10102075, 10102079, 10556764, 10698589, 10762289, 10810295, 11025190, 11502828, 11549678, 11836270, 12423626, 14767497, 16213173, 16582564, 1719554, 17555507, 18359741, 18556960, 19189684, 1999489, 20855935, 20962506, 21846964, 21968387, 23047741, 23417163, 26366551, 26510874, 27688483, 28301320, 28425851, 28523647, 28557176, 28736533, 29031714, 29653683, 30462209, 30893054, 31063794, 7565946, 7775649, 8187955, 8243263, 8361502, 8473396, 9024234, 9084935, 9207075, 9255229, 9255230, 9276733, 9371826, 9814495		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	Pubtator	28557176, 34769292	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	26261638, 29687007, 7565946	Associate	★☆☆☆☆ Found in Text Mining only
End Stage Liver Disease	End Stage Liver Disease	BEFREE	9661639		★☆☆☆☆ Found in Text Mining only
Endometrial adenocarcinoma	Endometrial Adenocarcinoma	BEFREE	27585662		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	32869542	Associate	★☆☆☆☆ Found in Text Mining only
Eyelid Xanthoma	Eyelid Xanthoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	19540305		★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	20403354		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	7573249		★☆☆☆☆ Found in Text Mining only
Gastritis Atrophic	Gastritis	Pubtator	15334699	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	24608110	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35808822	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	17555507, 20013551, 23047741, 24150201, 26261638, 26366551, 29687007, 31883394, 37474955, 38597155, 9276733	Associate	★☆☆☆☆ Found in Text Mining only
Growth Hormone-Secreting Pituitary Adenoma	Somatotroph Adenoma	BEFREE	12919156, 27455094		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	LHGDN	18401200		★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	17555507, 26340968	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	12910492		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperglycemia	Hyperglycemia	BEFREE	21968387		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	28299640, 31479305, 31698046		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	12910492		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension	Hypertension	Pubtator	34074802, 37561089	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	16572267		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	31366244		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	BEFREE	31392573		★☆☆☆☆ Found in Text Mining only
Hypohidrosis	Hypohidrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28073935		★☆☆☆☆ Found in Text Mining only
Insulin-Like Growth Factor I Deficiency	Insulin-Like Growth Factor I Deficiency	BEFREE	10549306, 15621211, 18073295, 18359741, 22423513, 24296660, 26510874, 29249625, 31791247		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	BEFREE	11299517, 11701674, 16291702, 16291706, 17547682, 17573420, 17957148, 19036620, 19050057, 19407498, 20592127, 20855935, 21073120, 21470284, 22026923, 22456308, 26340968, 26522453, 30712287, 7494669		★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	22205208		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	30394899, 9255230		★☆☆☆☆ Found in Text Mining only
Laron Syndrome	Laron Syndrome	BEFREE	10102073, 10102076, 11013443, 11025190, 12072393, 12083945, 12199334, 12511849, 12679461, 1284474, 12910492, 1372321, 14594180, 14678285, 15001582, 15112915, 15132718, 15231299, 15621211, 15751611, 16372230, 16461551, 16548790, 16917171, 17350302, 17462934, 17551471, 17598975, 17728167, 17849745, 17986822, 18359741, 18404972, 19189684, 1934534, 1999489, 20583548, 2074091, 21968387, 22682630, 22751808, 23006617, 24664892, 26366551, 26511035, 26522453, 26703237, 2779634, 2813379, 28743110, 29025428, 29208357, 29395968, 29459441, 29482569, 29678421, 30720842, 31320996, 3474620, 7775649, 7868073, 7949596, 8077336, 8137822, 8187955, 8361502, 8421103, 8450064, 8488849, 8504296, 8521189, 8626815, 8977385, 9024232, 9030971, 9255228, 9258809, 9371826, 9388817, 9723864, 9851797		★☆☆☆☆ Found in Text Mining only
Laron Syndrome	Laron Syndrome	UNIPROT_DG	10870033, 14678285, 2779634, 8137822, 8450064, 8504296, 9024232, 9661642, 9851797		★☆☆☆☆ Found in Text Mining only
Laron Syndrome	Laron Syndrome	LHGDN	15751611, 17706034, 18404972, 19189684		★☆☆☆☆ Found in Text Mining only
Laron Syndrome	Laron Syndrome	ORPHANET_DG	18406284, 24664892		★☆☆☆☆ Found in Text Mining only
Laron syndrome	Laron Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Laron Syndrome	Laron Syndrome	CLINVAR_DG	1999489, 8488849		★☆☆☆☆ Found in Text Mining only
Laron Syndrome	Laron Syndrome	GENOMICS_ENGLAND_DG	9467570		★☆☆☆☆ Found in Text Mining only
Laron Syndrome	Laron Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	29459441		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	36549505	Associate	★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	31366244		★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	10854539		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10810295, 10963047, 11916628, 26271667, 7958390		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	11849991, 12044524, 9661639		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	10810295, 11916628		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	26703237		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	16741161, 39541775	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	18299312		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	24676793	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12431808, 16381017, 22442272, 24676793, 30617282, 31754747, 7794815		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	24608110		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	18299312, 28967904		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	25301264		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12431808, 17220348, 19540305, 23238889		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17220348		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10579357, 12372843, 12431808, 17764692, 18299312, 21325617, 24134847, 24706164, 25301264, 25316432, 26307357, 27226307, 28223541, 28967904, 29395968, 29459441		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	24307807		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	10404796, 7509216, 9130928		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17287408		★☆☆☆☆ Found in Text Mining only
McCune-Albright Syndrome	McCune-Albright Syndrome	BEFREE	16720661		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	10470136, 24134847, 28223541, 31547367		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	24134847, 28223541	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	28293855	Stimulate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	12163391	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	17537658		★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	31603904		★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE SYNDROME, TRANSIENT	Myeloproliferative disorder	BEFREE	30195091		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	CTD_human_DG	16214533		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	12919156, 15481327, 18832799, 21528410, 21920991, 24134847, 24307807, 24676793, 26585578, 28223541, 31725956, 7794815, 9389738		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	Pubtator	18297205	Associate	★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	22751808		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	30206761		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	18513845		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	18359741, 20105189, 21386799, 21386804, 21470351, 21968387, 25316432, 29459441, 30462209, 30541116, 9207075		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	34769292, 39464190	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	36384443	Stimulate	★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	23782942		★☆☆☆☆ Found in Text Mining only
Osteitis Fibrosa Disseminata	Fibrous dysplasia	BEFREE	16720661		★☆☆☆☆ Found in Text Mining only
Osteofibrous Dysplasia	Osteofibrous Dysplasia	BEFREE	31725956		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	15621211		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	23812803		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	23129384, 31725956, 9390018		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	23129384	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	25301264		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	25301264		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	25301264	Associate	★☆☆☆☆ Found in Text Mining only
Panhypopituitarism	Panhypopituitarism	BEFREE	11299517		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	31603904		★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	BEFREE	16824679		★☆☆☆☆ Found in Text Mining only
Peptic Esophagitis	Peptic Esophagitis	BEFREE	20403354		★☆☆☆☆ Found in Text Mining only
Pituitary dwarfism	Pituitary dwarfism	BEFREE	11299517, 18031312, 20855935, 22038029		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pituitary Neoplasms	Pituitary Neoplasms	LHGDN	17462934, 17671221		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	21820924		★☆☆☆☆ Found in Text Mining only
Prader-Willi Syndrome	Prader-Willi Syndrome	BEFREE	22052808, 23696513, 29273483, 7494669		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	31603904		★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12431808, 17220348, 19540305, 23238889		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	15196705		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17220348		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudovaginal Perineoscrotal Hypospadias	5-alpha reductase deficiency	BEFREE	31277073		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	18513845		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	35960497	Associate	★☆☆☆☆ Found in Text Mining only
Relative macrocephaly	Macrocephaly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30229899		★☆☆☆☆ Found in Text Mining only
Russell-Silver syndrome	Russell-Silver Syndrome	BEFREE	10856193		★☆☆☆☆ Found in Text Mining only
Sarcopenia	Sarcopenia	Pubtator	18240972	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	18513845, 21518920, 27723806		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	21518920, 27723806, 28401151	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	29273483	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	BEFREE	29273483		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	14767497		★☆☆☆☆ Found in Text Mining only
Sex Differentiation Disorders	Sex Differentiation Disorders	BEFREE	31277073		★☆☆☆☆ Found in Text Mining only
Short Stature, Idiopathic, Autosomal	Short Stature, Idiopathic, Autosomal	BEFREE	10762289, 9255229		★☆☆☆☆ Found in Text Mining only
Short Stature, Idiopathic, Autosomal	Short Stature, Idiopathic, Autosomal	UNIPROT_DG	7565946		★☆☆☆☆ Found in Text Mining only
Short Stature, Idiopathic, Autosomal	Short Stature, Idiopathic, Autosomal	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Short Stature, Idiopathic, Autosomal	Short Stature, Idiopathic, Autosomal	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Short Stature, Idiopathic, Autosomal	Short Stature, Idiopathic, Autosomal	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Short Stature, Idiopathic, Autosomal	Short Stature, Idiopathic, Autosomal	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
SHORT STATURE, IDIOPATHIC, X-LINKED	SHORT STATURE, IDIOPATHIC, X-LINKED	BEFREE	16213173, 17785695, 18793346, 28557176, 9814495		★☆☆☆☆ Found in Text Mining only
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1	Simpson-Golabi-Behmel Syndrome	BEFREE	21386799		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	29651721		★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	BEFREE	16291702, 20592127, 21073120, 21470284, 22456308, 26340968, 29687007, 30712287		★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondylocostal dysostosis autosomal recessive	Spondylocostal dysostosis	Pubtator	39280003	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	24608110		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	30206761, 30295789		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30702489, 35299682	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30873760	Stimulate	★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Resistance Syndrome	Thyroid hormone resistance	Pubtator	8381821	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	32849296	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Nodule	Thyroid Nodule	BEFREE	28791847		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	15001582		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29805678		★☆☆☆☆ Found in Text Mining only
Tubular Aggregate Myopathy	Tubular Aggregate Myopathy	BEFREE	30195091		★☆☆☆☆ Found in Text Mining only
Tumors of Adrenal Cortex	Tumors Of Adrenal Cortex	BEFREE	9253352		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	16291706, 17973940, 19681916, 21073120, 22278433, 22456308, 9255230		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner syndrome	Pubtator	22278433	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	28946616		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	35909123	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasm	Uterine cervix neoplasm	LHGDN	18832799		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasm	Uterine cervix neoplasm	BEFREE	18832799		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	18832799	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	7573249		★☆☆☆☆ Found in Text Mining only
X-Linked Combined Immunodeficiency Diseases	Combined Immunodeficiency, X-Linked	BEFREE	17082603		★☆☆☆☆ Found in Text Mining only
Xanthoma	Xanthoma	HPO_DG			★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

CSH1 6 shared pathwaysCytokine-cytokine receptor interaction, Hormone signaling, JAK-STAT signaling pathway, Growth hormone synthesis, secretion and action, Prolactin receptor signaling, Growth hormone receptor signaling Related via 6 shared pathways including Cytokine-cytokine receptor interaction, Hormone signaling. GH2 6 shared pathwaysCytokine-cytokine receptor interaction, Hormone signaling, JAK-STAT signaling pathway, Growth hormone synthesis, secretion and action, Prolactin receptor signaling, Growth hormone receptor signaling Related via 6 shared pathways including Cytokine-cytokine receptor interaction, Hormone signaling. PPP1R17 2 shared diseasesHypercholesterolemia, Hyperlipoproteinemia 4 shared evidence sourcesClinVar (Hypercholesterolemia), Disgenet (Hypercholesterolemia), CTD (Hypercholesterolemia), Disgenet (Hyperlipoproteinemia) Related via 2 shared diseases including Hypercholesterolemia, Hyperlipoproteinemia — evidence mostly Disgenet. GH1 1 shared diseasePituitary dwarfism 6 shared pathwaysCytokine-cytokine receptor interaction, Hormone signaling, JAK-STAT signaling pathway, Growth hormone synthesis, secretion and action, Prolactin receptor signaling, Growth hormone receptor signaling 1 shared evidence sourceDisgenet (Pituitary dwarfism) Related via 6 shared pathways including Cytokine-cytokine receptor interaction, Hormone signaling — evidence mostly Disgenet. APOA2 2 shared diseasesHypercholesterolemia, Hyperlipoproteinemia 4 shared evidence sourcesClinVar (Hypercholesterolemia), Disgenet (Hypercholesterolemia), CTD (Hypercholesterolemia), Disgenet (Hyperlipoproteinemia) Related via 2 shared diseases including Hypercholesterolemia, Hyperlipoproteinemia — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
CSH1	0	[]	6	["Cytokine-cytokine receptor interaction","Hormone signaling","JAK-STAT signaling pathway","Growth hormone synthesis, secretion and action","Prolactin receptor signaling","Growth hormone receptor signaling"]	0	[]
GH2	0	[]	6	["Cytokine-cytokine receptor interaction","Hormone signaling","JAK-STAT signaling pathway","Growth hormone synthesis, secretion and action","Prolactin receptor signaling","Growth hormone receptor signaling"]	0	[]
PPP1R17	2	["Hypercholesterolemia","Hyperlipoproteinemia"]	0	[]	4	["ClinVar (Hypercholesterolemia)","Disgenet (Hypercholesterolemia)","CTD (Hypercholesterolemia)","Disgenet (Hyperlipoproteinemia)"]
GH1	1	["Pituitary dwarfism"]	6	["Cytokine-cytokine receptor interaction","Hormone signaling","JAK-STAT signaling pathway","Growth hormone synthesis, secretion and action","Prolactin receptor signaling","Growth hormone receptor signaling"]	1	["Disgenet (Pituitary dwarfism)"]
APOA2	2	["Hypercholesterolemia","Hyperlipoproteinemia"]	0	[]	4	["ClinVar (Hypercholesterolemia)","Disgenet (Hypercholesterolemia)","CTD (Hypercholesterolemia)","Disgenet (Hyperlipoproteinemia)"]

Diseases Linked via Similar Genes

Silver-russell syndrome Linked via 2 of 5 related genesCSH1, GH2 Endometriosis Linked via 1 of 5 related genesPPP1R17 Female infertility Linked via 1 of 5 related genesPPP1R17 Anemia Linked via 1 of 5 related genesGH1 Diamond-blackfan anemia Linked via 1 of 5 related genesGH1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Silver-russell syndrome	2	["CSH1","GH2"]
Endometriosis	1	["PPP1R17"]
Female infertility	1	["PPP1R17"]
Anemia	1	["GH1"]
Diamond-blackfan anemia	1	["GH1"]