GHRHR (growth hormone releasing hormone receptor)

Gene

• Entrez ID: 2692
• Gene name: Growth hormone releasing hormone receptor
• Gene symbol: GHRHR
• Synonyms (NCBI Gene): GHRFR, GRFR, IGHD1B, IGHD4
• Chromosome: 7
• Chromosome location: 7p14.3
• Summary: This gene encodes a receptor for growth hormone-releasing hormone. Binding of this hormone to the receptor leads to synthesis and release of growth hormone. Mutations in this gene have been associated with isolated growth hormone deficiency (IGHD), also k

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2302022	G>A,T	Uncertain-significance, pathogenic	Splice donor variant
rs121918117	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs121918118	T>A	Pathogenic	Missense variant, coding sequence variant
rs121918119	T>G	Pathogenic	Missense variant, coding sequence variant
rs121918120	C>A	Pathogenic	Missense variant, coding sequence variant
rs121918121	A>G	Pathogenic	Missense variant, coding sequence variant
rs146944568	G>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs200848306	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs606231412	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs606231413	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs748432685	ACTGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs779187338	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1562592874	G>A	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1018503	hsa-let-7a	CLIP-seq
MIRT1018504	hsa-let-7b	CLIP-seq
MIRT1018505	hsa-let-7c	CLIP-seq
MIRT1018506	hsa-let-7d	CLIP-seq
MIRT1018507	hsa-let-7e	CLIP-seq
MIRT1018508	hsa-let-7f	CLIP-seq
MIRT1018509	hsa-let-7g	CLIP-seq
MIRT1018510	hsa-let-7i	CLIP-seq
MIRT1018511	hsa-miR-140-3p	CLIP-seq
MIRT1018512	hsa-miR-3529	CLIP-seq
MIRT1018513	hsa-miR-379	CLIP-seq
MIRT1018514	hsa-miR-3927	CLIP-seq
MIRT1018515	hsa-miR-4257	CLIP-seq
MIRT1018516	hsa-miR-4458	CLIP-seq
MIRT1018517	hsa-miR-4500	CLIP-seq
MIRT1018518	hsa-miR-98	CLIP-seq
MIRT2538701	hsa-miR-1913	CLIP-seq
MIRT2538702	hsa-miR-3130-3p	CLIP-seq
MIRT2538703	hsa-miR-324-3p	CLIP-seq
MIRT2538704	hsa-miR-4446-3p	CLIP-seq
MIRT2538705	hsa-miR-4492	CLIP-seq
MIRT2538706	hsa-miR-4498	CLIP-seq
MIRT2538707	hsa-miR-4505	CLIP-seq
MIRT2538708	hsa-miR-762	CLIP-seq
MIRT2538701	hsa-miR-1913	CLIP-seq
MIRT2538702	hsa-miR-3130-3p	CLIP-seq
MIRT2538703	hsa-miR-324-3p	CLIP-seq
MIRT2538704	hsa-miR-4446-3p	CLIP-seq
MIRT2538705	hsa-miR-4492	CLIP-seq
MIRT2538706	hsa-miR-4498	CLIP-seq
MIRT2538707	hsa-miR-4505	CLIP-seq
MIRT2538708	hsa-miR-762	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0004930	Function	G protein-coupled receptor activity	IC	7680413
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0005515	Function	Protein binding	IPI	1333056, 7680413
GO:0005637	Component	Nuclear inner membrane	IDA	10461027
GO:0005640	Component	Nuclear outer membrane	IDA	10461027
GO:0005737	Component	Cytoplasm	IDA	10461027
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	10461027
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007165	Process	Signal transduction	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	1333056, 7680413
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IEA
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IEA
GO:0007595	Process	Lactation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IBA
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	12867592
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008340	Process	Determination of adult lifespan	IEA
GO:0008528	Function	G protein-coupled peptide receptor activity	IBA
GO:0009986	Component	Cell surface	IDA	1333056
GO:0009986	Component	Cell surface	IEA
GO:0016020	Component	Membrane	IDA	1333056
GO:0016020	Component	Membrane	IEA
GO:0016363	Component	Nuclear matrix	IDA	10461027
GO:0016520	Function	Growth hormone-releasing hormone receptor activity	IBA
GO:0016520	Function	Growth hormone-releasing hormone receptor activity	IEA
GO:0016520	Function	Growth hormone-releasing hormone receptor activity	IMP	7680413
GO:0017046	Function	Peptide hormone binding	IBA
GO:0017046	Function	Peptide hormone binding	IEA
GO:0017046	Function	Peptide hormone binding	IPI	7680413
GO:0019838	Function	Growth factor binding	IBA
GO:0019838	Function	Growth factor binding	IPI	7680413
GO:0021984	Process	Adenohypophysis development	IEA
GO:0030141	Component	Secretory granule	IDA	10461027
GO:0030252	Process	Growth hormone secretion	IEA
GO:0030879	Process	Mammary gland development	IEA
GO:0032868	Process	Response to insulin	IEA
GO:0032868	Process	Response to insulin	IMP	17356054
GO:0032869	Process	Cellular response to insulin stimulus	IEA
GO:0033143	Process	Regulation of intracellular steroid hormone receptor signaling pathway	IEA
GO:0040018	Process	Positive regulation of multicellular organism growth	IEA
GO:0040018	Process	Positive regulation of multicellular organism growth	IEA
GO:0040018	Process	Positive regulation of multicellular organism growth	IMP	8528260
GO:0042383	Component	Sarcolemma	IEA
GO:0042445	Process	Hormone metabolic process	IEA
GO:0043567	Process	Regulation of insulin-like growth factor receptor signaling pathway	IEA
GO:0043568	Process	Positive regulation of insulin-like growth factor receptor signaling pathway	NAS	11773624
GO:0043627	Process	Response to estrogen	IDA	9482665
GO:0046010	Process	Positive regulation of circadian sleep/wake cycle, non-REM sleep	IEA
GO:0046879	Process	Hormone secretion	IEA
GO:0046887	Process	Positive regulation of hormone secretion	IEA
GO:0048469	Process	Cell maturation	IEA
GO:0051246	Process	Regulation of protein metabolic process	IEA
GO:0051384	Process	Response to glucocorticoid	IDA	9482665
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0060124	Process	Positive regulation of growth hormone secretion	IEA
GO:0060124	Process	Positive regulation of growth hormone secretion	IEA
GO:0060124	Process	Positive regulation of growth hormone secretion	NAS	11773624
GO:0060133	Process	Somatotropin secreting cell development	IEA
GO:0071333	Process	Cellular response to glucose stimulus	IEA
GO:0141156	Process	CAMP/PKA signal transduction	IEA

Other IDs

• MIM: 139191
• HGNC: 4266
• e!Ensembl: ENSG00000106128

Protein

• UniProt ID: Q02643
• Protein name: Growth hormone-releasing hormone receptor (GHRH receptor) (Growth hormone-releasing factor receptor) (GRF receptor) (GRFR)
• Protein function: Receptor for GRF, coupled to G proteins which activate adenylyl cyclase. Stimulates somatotroph cell growth, growth hormone gene transcription and growth hormone secretion.
• PDB: 2XDG, 7CZ5
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02793	HRM	52 → 115	Hormone receptor domain	Family
  PF00002	7tm_2	126 → 372	7 transmembrane receptor (Secretin family)	Family

• Tissue specificity: TISSUE SPECIFICITY: Pituitary gland.
• Sequence:

  MDRRMWGAHVFCVLSPLPTVLGHMHPECDFITQLREDESACLQAAEEMPNTTLGCPATWD
  GLLCWPTAGSGEWVTLPCPDFFSHFSSESGAVKRDCTITGWSEPFPPYPVACPVPLELLA
  EEESYFSTVKIIYTVGHSISIVALFVAITILVALRRLHCPRNYVHTQLFTTFILKAGAVF
  LKDAALFHSDDTDHCSFSTVLCKVSVAASHFATMTNFSWLLAEAVYLNCLLASTSPSSRR
  AFWWLVLAGWGLPVLFTGTWVSCKLAFEDIACWDLDDTSPYWWIIKGPIVLSVGVNFGLF
  LNIIRILVRKLEPAQGSLHTQSQYWRLSKSTLFLIPLFGIHYIIFNFLPDNAGLGIRLPL
  ELGLGSFQGFIVAILYCFLNQEVRTEISRKWHGHDPELLPAWRTRAKWTTPSRSAAKVLT
  SMC

• Sequence length: 423

Pathways

KEGG:

Neuroactive ligand-receptor interaction
Hormone signaling
Growth hormone synthesis, secretion and action

Reactome:

G alpha (s) signalling events
Glucagon-type ligand receptors
ADORA2B mediated anti-inflammatory cytokines production

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
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Isolated growth hormone deficiency type IB	Likely pathogenic; Pathogenic	rs200848306, rs606231412, rs606231413, rs1562606449	RCV000148941 RCV000148940 RCV000148942 RCV000768416	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Isolated growth hormone deficiency, type 4	Pathogenic; Likely pathogenic	rs2128598609, rs376948691, rs774281185, rs200848306, rs779187338, rs1313808810, rs121918117, rs2302022, rs121918118, rs121918119, rs121918120, rs121918121, rs2128596101, rs570281194, rs758798716, rs1049885467	RCV001374715 RCV001783363 RCV003317586 RCV003992197 RCV003992209 RCV003145839 RCV000017360 RCV000017361 RCV000017362 RCV000017363 RCV000017364 RCV000017365 RCV000017366 RCV005036434 RCV004699295 RCV001293712	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CONGENITAL IGHD	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL LEFT-SIDED HEART LESIONS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disorder of sexual differentiation	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GHRHR-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGONADOTROPIC HYPOGONADISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOPITUITARISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic growth hormone deficiency	Benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Isolated congenital growth hormone deficiency	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KALLMANN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANHYPOPITUITARISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY DWARFISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY SHORT STATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHEEHAN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acromegaly	Acromegaly	BEFREE	11158006		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	12364462		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	10359139, 15853821, 19029774, 19342460		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	19717419		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	19717419		★☆☆☆☆ Found in Text Mining only
Adrenocorticotropic hormone (ACTH) deficiency (disorder)	Adrenocorticotropic Hormone Deficiency	BEFREE	12914740		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	25843330, 26433351	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	20016047, 24272598		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	20016047, 24272598		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18506184, 24479854		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17372203, 24479854	Associate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	24479854	Associate	★☆☆☆☆ Found in Text Mining only
Cancer Pain	Cancer	Pubtator	39201517	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10962031, 24479854, 29206714		★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	24479854	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Lobular	Lobular carcinoma	Pubtator	24479854	Stimulate	★☆☆☆☆ Found in Text Mining only
Central hypothyroidism	Central hypothyroidism	BEFREE	12914740		★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	BEFREE	12914740		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27546520		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19593408, 27546520	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	8268652		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	10084571, 10549302, 10782778, 11025190, 19733620, 21044116, 21274317, 30865930, 8993403, 9845677		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	Pubtator	10782778, 21274317, 33060564	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	10782778, 18034778, 18297129, 19209235, 19965916, 20016047, 21274317, 21995288, 25541890, 27031974, 27501283, 27651465, 29412390, 29537382, 33060564, 33860882, 34589056, 35315986, 36960394	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	12867592, 28032599		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	28032599	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	18684444		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	18684444	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	24878932		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	24878932		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	18034778, 21274317, 35315986	Associate	★☆☆☆☆ Found in Text Mining only
Growth Hormone-Secreting Pituitary Adenoma	Somatotroph Adenoma	BEFREE	19029774		★☆☆☆☆ Found in Text Mining only
Growth Hormone-Secreting Pituitary Adenoma	Somatotroph Adenoma	LHGDN	19029774		★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	18034778, 18297129, 19965916, 21274317, 25843330, 27031974, 27501283, 29412390, 33860882	Associate	★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	Pubtator	30975191	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	25226297		★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	BEFREE	30959475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoplasia of the pituitary gland	Hypoplasia Of The Pituitary Gland	BEFREE	10782778		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	10461026, 12914740		★☆☆☆☆ Found in Text Mining only
Inflammatory abnormality of the eye	Inflammatory abnormality of the eye	BEFREE	30831084		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	21995288	Associate	★☆☆☆☆ Found in Text Mining only
Insulin-Like Growth Factor I Deficiency	Insulin-Like Growth Factor I Deficiency	BEFREE	31544067		★☆☆☆☆ Found in Text Mining only
Isolated growth hormone deficiency type IB	Isolated Growth Hormone Deficiency	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Isolated Growth Hormone Deficiency, Type IB	Isolated Growth Hormone Deficiency	BEFREE	19417035, 19622623, 25153028, 29537382, 9814493		★☆☆☆☆ Found in Text Mining only
Isolated Growth Hormone Deficiency, Type IB	Isolated Growth Hormone Deficiency	ORPHANET_DG	19762173, 22139958		★☆☆☆☆ Found in Text Mining only
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV	Isolated Growth Hormone Deficiency	UNIPROT_DG	10084571, 11232012, 12534354, 8528260, 9467553		★☆☆☆☆ Found in Text Mining only
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV	Isolated Growth Hormone Deficiency	BEFREE	9814493		★☆☆☆☆ Found in Text Mining only
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV	Isolated Growth Hormone Deficiency	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV	Isolated Growth Hormone Deficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	BEFREE	10594516, 10822217, 11994335, 14594175, 15049962, 15237716, 15870127, 16355809, 18297129, 19622623, 20374725, 21274317, 21396571, 22423511, 22489751, 23295298, 23392099, 23436191, 23602557, 25153028, 25226297, 25541890, 25557026, 27114065, 27501283, 27974184, 28910730, 30390533, 31147205, 31231873, 8618801, 8993403, 9799079		★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Laron Syndrome	Laron Syndrome	BEFREE	11025190		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	29663325		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	Pubtator	33060564	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of adrenal cortex	Adrenocortical carcinoma	BEFREE	19717419		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18506184		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	28032599		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16299104		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11582590, 15870705, 15944917		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10962031, 15362970, 16299104, 18292936		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	29206714		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	18255167, 25486366		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	18255167		★☆☆☆☆ Found in Text Mining only
Nail-Patella Syndrome	Nail-Patella Syndrome	BEFREE	23199197		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10944436, 19717419, 9920092		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	LHGDN	16820890		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	30975191	Associate	★☆☆☆☆ Found in Text Mining only
Panhypopituitarism	Panhypopituitarism	BEFREE	25557026, 27114065, 27974184		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periodontitis	Periodontitis	BEFREE	29797719		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	19717419		★☆☆☆☆ Found in Text Mining only
Pituitary Diseases	Pituitary Diseases	BEFREE	9799079		★☆☆☆☆ Found in Text Mining only
Pituitary dwarfism	Pituitary dwarfism	BEFREE	10822217, 12534354, 14594175, 15049962, 15237716, 16355809, 17356054, 17371461, 17925337, 18034778, 19417035, 19622623, 20374725, 21044116, 21274317, 21396571, 21816782, 21995288, 22423511, 23295298, 23397510, 23436191, 23602557, 24057284, 25153028, 25226297, 25541890, 25557026, 26100788, 27114065, 27501283, 27974184, 28910730, 29571594, 29797719, 30390533, 30865930, 31147205, 31231873, 8618801, 8993403		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pituitary dwarfism 1	Pituitary dwarfism	Pubtator	29537382	Associate	★☆☆☆☆ Found in Text Mining only
PITUITARY DWARFISM I	Pituitary dwarfism	BEFREE	23295298		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	19029774	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	30975191	Associate	★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	10359139		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11582590, 15870705		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	12126741, 12364462		★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism	Pseudohypoparathyroidism	Pubtator	25843330	Associate	★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	30357400		★☆☆☆☆ Found in Text Mining only
Resistance to Insulin-Like Growth Factor I	IGF-I RESISTANCE	BEFREE	17166755		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	27911838		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	27911838	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	LHGDN	16820890		★☆☆☆☆ Found in Text Mining only
Secondary hypothyroidism	Hypothyroidism	BEFREE	12914740		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	10962031	Associate	★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	BEFREE	10594516, 10822217, 15279086, 15870127, 26578640, 27501283, 27651465, 9401536		★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	22441816		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	30519280		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	22441816	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	28924876		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	10822217		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	18629632, 29206714		★☆☆☆☆ Found in Text Mining only