Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	2798
Gene name	Gonadotropin releasing hormone receptor
Gene symbol	GNRHR
Synonyms (NCBI Gene)	GNRHR1GRHRHH7LHRHRLRHR
Chromosome	4
Chromosome location	4q13.2
Summary	This gene encodes the receptor for type 1 gonadotropin-releasing hormone. This receptor is a member of the seven-transmembrane, G-protein coupled receptor (GPCR) family. It is expressed on the surface of pituitary gonadotrope cells as well as lymphocytes,

22 Show/Hide all (22)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28933074	T>C	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs74452732	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs104893836	T>C	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs104893837	C>T	Pathogenic	Missense variant, synonymous variant, coding sequence variant
rs104893838	G>A,C,T	Pathogenic	Missense variant, coding sequence variant
rs104893839	G>T	Pathogenic	Missense variant, coding sequence variant
rs104893840	A>T	Pathogenic	Missense variant, coding sequence variant
rs104893841	A>T	Pathogenic	3 prime UTR variant, stop gained, coding sequence variant
rs104893842	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs104893843	A>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs104893844	C>T	Pathogenic	Missense variant, coding sequence variant
rs104893847	G>A	Pathogenic	3 prime UTR variant, missense variant, coding sequence variant
rs144900788	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs369176613	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs515726219	T>C	Pathogenic	Coding sequence variant, missense variant
rs515726220	G>A	Pathogenic	Coding sequence variant, missense variant, synonymous variant
rs606231406	A>G	Pathogenic	Missense variant, coding sequence variant
rs727505367	A>C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs776834867	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs797044452	C>T	Pathogenic	Intron variant, splice acceptor variant
rs1057520762	A>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1064793140	T>C	Likely-pathogenic	Coding sequence variant, missense variant

52 Show/Hide all (52)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022748	hsa-miR-124-3p	Microarray	18668037
MIRT023851	hsa-miR-1-3p	Microarray	18668037
MIRT029569	hsa-miR-26b-5p	Microarray	19088304
MIRT1025594	hsa-miR-1305	CLIP-seq
MIRT1025595	hsa-miR-140-3p	CLIP-seq
MIRT1025596	hsa-miR-153	CLIP-seq
MIRT1025597	hsa-miR-3121-3p	CLIP-seq
MIRT1025598	hsa-miR-3150b-3p	CLIP-seq
MIRT1025599	hsa-miR-3174	CLIP-seq
MIRT1025600	hsa-miR-3619-3p	CLIP-seq
MIRT1025601	hsa-miR-411	CLIP-seq
MIRT1025602	hsa-miR-4496	CLIP-seq
MIRT1025603	hsa-miR-4712-3p	CLIP-seq
MIRT1025604	hsa-miR-4776-5p	CLIP-seq
MIRT1025605	hsa-miR-4784	CLIP-seq
MIRT1025606	hsa-miR-4796-3p	CLIP-seq
MIRT1025607	hsa-miR-4800-5p	CLIP-seq
MIRT1025608	hsa-miR-548a-3p	CLIP-seq
MIRT1025609	hsa-miR-548e	CLIP-seq
MIRT1025610	hsa-miR-548f	CLIP-seq
MIRT1025611	hsa-miR-586	CLIP-seq
MIRT1025612	hsa-miR-1	CLIP-seq
MIRT1025613	hsa-miR-2054	CLIP-seq
MIRT1025614	hsa-miR-206	CLIP-seq
MIRT1025615	hsa-miR-219-2-3p	CLIP-seq
MIRT1025616	hsa-miR-2964a-3p	CLIP-seq
MIRT1025617	hsa-miR-302f	CLIP-seq
MIRT1025618	hsa-miR-3115	CLIP-seq
MIRT1025619	hsa-miR-3145-3p	CLIP-seq
MIRT1025620	hsa-miR-3163	CLIP-seq
MIRT1025621	hsa-miR-3166	CLIP-seq
MIRT1025622	hsa-miR-361-5p	CLIP-seq
MIRT1025623	hsa-miR-3673	CLIP-seq
MIRT1025624	hsa-miR-3944-5p	CLIP-seq
MIRT1025625	hsa-miR-3978	CLIP-seq
MIRT1025626	hsa-miR-4261	CLIP-seq
MIRT1025627	hsa-miR-432	CLIP-seq
MIRT1025628	hsa-miR-4328	CLIP-seq
MIRT1025629	hsa-miR-4506	CLIP-seq
MIRT1025630	hsa-miR-4639-5p	CLIP-seq
MIRT1025631	hsa-miR-4668-3p	CLIP-seq
MIRT1025632	hsa-miR-4680-3p	CLIP-seq
MIRT1025633	hsa-miR-4771	CLIP-seq
MIRT1025634	hsa-miR-486-5p	CLIP-seq
MIRT1025635	hsa-miR-548g	CLIP-seq
MIRT1025636	hsa-miR-613	CLIP-seq
MIRT1025637	hsa-miR-629	CLIP-seq
MIRT1025638	hsa-miR-651	CLIP-seq
MIRT1025639	hsa-miR-656	CLIP-seq
MIRT2004094	hsa-miR-570	CLIP-seq
MIRT2388554	hsa-miR-4760-5p	CLIP-seq
MIRT2450474	hsa-miR-4699-3p	CLIP-seq

16 Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004968	Function	Gonadotropin-releasing hormone receptor activity	IBA
GO:0004968	Function	Gonadotropin-releasing hormone receptor activity	IDA	8386108
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8386108
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	8386108
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	9259321
GO:0016500	Function	Protein-hormone receptor activity	IEA
GO:0032274	Process	Gonadotropin secretion	NAS	8386108
GO:0032870	Process	Cellular response to hormone stimulus	IBA
GO:0097211	Process	Cellular response to gonadotropin-releasing hormone	IEA

MIM	HGNC	e!Ensembl
138850	4421	ENSG00000109163

P30968

Protein name

Gonadotropin-releasing hormone receptor (GnRH receptor) (GnRH-R)

Protein function

Receptor for gonadotropin releasing hormone (GnRH) that mediates the action of GnRH to stimulate the secretion of the gonadotropic hormones luteinizing hormone (LH) and follicle-stimulating hormone (FSH). This receptor mediates its action by ass

PDB

7BR3

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00001	7tm_1	60 → 323	7 transmembrane receptor (rhodopsin family)	Family

Tissue specificity

TISSUE SPECIFICITY: Pituitary, ovary, testis, breast and prostate but not in liver and spleen.

Sequence

MANSASPEQNQNHCSAINNSIPLMQGNLPTLTLSGKIRVTVTFFLFLLSATFNASFLLKL
QKWTQKKEKGKKLSRMKLLLKHLTLANLLETLIVMPLDGMWNITVQWYAGELLCKVLSYL
KLFSMYAPAFMMVVISLDRSLAITRPLALKSNSKVGQSMVGLAWILSSVFAGPQLYIFRM
IHLADSSGQTKVFSQCVTHCSFSQWWHQAFYNFFTFSCLFIIPLFIMLICNAKIIFTLTR
VLHQDPHELQLNQSKNNIPRARLKTLKMTVAFATSFTVCWTPYYVLGIWYWFDPEMLNRL
SDPVNHFFFLFAFLNPCFDPLIYGYFSL

Sequence length

328

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Neuroactive ligand-receptor interaction	Hormone ligand-binding receptors
Hormone signaling	G alpha (q) signalling events
GnRH signaling pathway

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar Show/Hide Causal Diseases (10)
Amenorrhea	Likely pathogenic; Pathogenic	rs104893837, rs104893840	RCV001849268 RCV001849269	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Delayed puberty	Likely pathogenic; Pathogenic	rs727505367	RCV000156945	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GNRHR-related disorder	Likely pathogenic; Pathogenic	rs104893836	RCV003415714	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gonadotropin deficiency	Likely pathogenic; Pathogenic	rs104893836	RCV000662016	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypogonadotropic hypogonadism	Likely pathogenic; Pathogenic	rs104893836, rs104893837, rs104893842	RCV003330392 RCV004782017 RCV005252686	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypogonadotropic hypogonadism 7 with or without anosmia	Pathogenic; Likely pathogenic	rs515726220, rs148499544, rs188272653, rs606231406, rs369176613, rs1325732095, rs1417516934, rs727505367, rs753280668, rs2475805410, rs557311093, rs1237982349, rs104893836, rs104893837, rs28933074 View all (11 more)	RCV000114424 RCV003225761 RCV002497886 RCV000128826 RCV000128827 View all (21 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Infertility disorder	Likely pathogenic; Pathogenic	rs104893836	RCV001327939	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Isolated congenital hypogonadotropic hypogonadism	Likely pathogenic; Pathogenic	rs2475804586, rs104893836	RCV004017999 RCV000599632	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Isolated GnRH Deficiency	Likely pathogenic	rs104893843	RCV000375229	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pituitary hormone deficiency	Likely pathogenic; Pathogenic	rs104893836, rs104893837	RCV005865184 RCV005865185	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (14)
Adrenocortical carcinoma, hereditary	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGONADISM	—	CTD, Disgenet CTD, Disgenet	15625238	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOPITUITARISM	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC GROWTH HORMONE DEFICIENCY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM	—	CTD, Disgenet CTD, Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KALLMANN SYNDROME	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ 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
SHEEHAN SYNDROME	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (127)
Adenoma	Adenoma	BEFREE	11434667, 26397949, 8200967, 9177416, 9425394, 9724070, 9797855		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal Cancer	Adrenal Cancer	CTD_human_DG	19131502		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal Gland Neoplasms	Adrenal neoplasia	CTD_human_DG	19131502		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	34128468	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amenorrhea	Amenorrhea	Pubtator	21247312, 29182666, 38521400	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Androgen Insensitivity Syndrome	Androgen insensitivity syndrome	Pubtator	34833359	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	30882966		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	30882966		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	25706326		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	25706326	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atypical Endometrial Hyperplasia	Endometrial Hyperplasia	BEFREE	12373298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bartter Syndrome	Bartter syndrome	Pubtator	24472523	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	26197852		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	18587256		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19640273, 22710726, 23176180, 27098123		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18584413, 22051164, 23176180, 26151677	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	11836606		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	18587256		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	24767644	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	15228417, 17108127, 23164934, 7880073		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cartilage-hair hypoplasia	Cartilage-Hair Hypoplasia	BEFREE	22679506, 26720605		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia and Hypogonadotropic Hypogonadism	Cerebellar ataxia and hypogonadotropic hypogonadism	Pubtator	17235395	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	9627100		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	31500399		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Camptodactyly	Congenital Camptodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypogonadotropic hypogonadism	Congenital Hypogonadotropic Hypogonadism	BEFREE	22679506, 22724017, 25531638, 29123501, 29182666, 30476558, 30575316		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of breast	Breast hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of ovary	Hypoplasia of the ovary	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital sensorineural hearing loss	Congenital Sensorineural Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conn Adenoma	Conn Adenoma	BEFREE	24472523, 27196470		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	BEFREE	21330483		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	BEFREE	29777911		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	38437850	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	10366462, 11836606, 12373298, 12790790, 7959256, 9467552		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Stromal Sarcoma	Endometrial Stromal Sarcoma	LHGDN	15529183		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	BEFREE	10687850		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	10687850, 28333195, 29476499, 31749075		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	28333195	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Female hypogonadism syndrome	Female Hypogonadism Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	22901846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Follicle stimulating hormone deficiency	Follicle Stimulating Hormone Deficiency	BEFREE	17161329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	19360304, 28824547		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	19360304, 27930095, 28824547		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	19360304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gonadotropin deficiency	Gonadotropin Deficiency	BEFREE	12679486, 14714589, 29182666		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
granulosa cell tumor	Granulosa Cell Tumor	BEFREE	23372819		★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	16968799, 29182666, 36371229	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	23176180	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	Pubtator	24472523, 26397949, 27196470	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	BEFREE	10022417, 12679486, 14689055, 23155690, 29182666		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadism	Hypogonadism	Pubtator	12477532, 12568864, 12944565, 16968799, 21277937, 21717411, 22724017, 22745237, 26572316, 27544332, 28485664, 29182666, 36371229	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadism	Hypogonadism	LHGDN	12568864, 15105440, 16213849, 18463157		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadism	Hypogonadism	CTD_human_DG	15625238		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadism	Hypogonadism	Pubtator	38437850	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadism, Isolated Hypogonadotropic	Hypogonadism	BEFREE	11397871, 16868131, 16968799, 23295295, 25016926, 27544332		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism, Isolated Hypogonadotropic	Hypogonadism	CTD_human_DG	15625238		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	10523035, 10599708, 10690855, 10698591, 10714361, 10999776, 11299515, 11318785, 11397871, 11420132, 11994356, 12107234, 12477532, 12568864, 14671217 View all (19 more)		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	CTD_human_DG	15625238		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	UNIPROT_DG	10022417, 10084584, 10523035, 11318785, 11397842, 11397871, 11994356, 12679486, 23643382, 25077900, 9371856, 9425890		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	10999776, 11079449, 11297587, 11384641, 11397842, 12050282, 12788881, 12944565, 15240592, 15722618, 16213849, 16322390, 16968799, 17161329, 17235395 View all (14 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	CLINVAR_DG	10999776, 11397842, 11397871, 12057744, 12364481, 12568864, 12574221, 15728205, 16968799, 17235395, 22405597, 22724017, 22745237, 22766261, 24732674, 26207952, 28611058, 29182666, 9371856 View all (4 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism	Pubtator	12477532, 16359986, 16500342, 16606836, 17235395, 21247312, 21717411, 22766261, 24002956, 25226293, 33592857, 36700485, 9418701	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	GENOMICS_ENGLAND_DG	9425890		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Infertility	Infertility	Pubtator	12477532	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Isolated lutropin deficiency (disorder)	Isolated lutropin deficiency	BEFREE	11397842		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann Syndrome	BEFREE	11079449, 11531922, 16423815, 16606836, 17235395, 17594608, 18463157, 24776628, 26199944		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kallmann Syndrome 1	Kallmann Syndrome	CLINVAR_DG	22745237		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome 2 (disorder)	Kallmann Syndrome	CLINVAR_DG	22745237		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	22901846	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	9627100		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19640273, 21279682, 22710726, 23176180, 27098123, 28824547		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	10366462, 12373298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	11836606, 15228417, 17108127, 23164934, 9467552		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	28824547		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	19399647, 19640273, 23326338, 26197852, 27756786, 29273727, 30400054, 31033025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	18587256		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11751060, 18587256, 21541969, 23287110, 28212592		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	31500399		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	7534732, 7789173		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	12161512, 14726258		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	LHGDN	18980792		★★★★★ ★☆☆☆☆ Found in Text Mining only
Micropenis	Micropenis	BEFREE	29777911		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	26151677	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11836606, 12790790, 15228417, 15233551, 15713894, 18309229, 19360304, 21317933, 23164934, 23326338, 28709956, 30983920, 7534732, 8200967, 8550798, 9467552 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	34128468	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Normosmic congenital hypogonadotropic hypogonadism	Normosmic Congenital Hypogonadotropic Hypogonadism	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	11531922, 12536356		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	36035370	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	16968799		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	LHGDN	16968799		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	15228417, 17108127, 23164934, 7789173		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	21193558	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	34128468	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	BEFREE	29777911		★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Diseases	Pituitary Diseases	BEFREE	15562029, 27901351, 30476149, 30555419		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	11037346, 8200967	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	10439012, 21274726, 28878336, 29760445, 30476149		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	35872929	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	CTD_human_DG	15625238		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	BEFREE	30476149		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	19399647, 19640273, 23326338, 26197852, 27756786, 29273727, 30400054, 31033025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	17143537, 23380421, 31614426	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	7534732		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Endometrial Stromal	Endometrial stromal sarcoma	Pubtator	15529183	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary physiologic amenorrhea	Secondary Physiologic Amenorrhea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	31614426	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	31614426		★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular hypogonadism	Testicular Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Resistance Selective Pituitary	Thyroid hormone resistance	Pubtator	23341491	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31016845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	35264044	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	33652606, 36806614	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	22901846, 29476499		★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked Adrenal Hypoplasia	Adrenal Hypoplasia, X-Linked	BEFREE	11079449, 11220702		★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
TAC3	9	["Hypogonadism","Hypogonadotropic hypogonadism","Hypopituitarism","Growth hormone deficiency","Kallmann syndrome","Panhypopituitarism","Pituitary dwarfism","Pituitary short stature","Sheehan syndrome"]	1	["G alpha (q) signalling events"]	13	["CTD (Hypogonadism)","Disgenet (Hypogonadism)","Disgenet (Hypogonadotropic hypogonadism)","CTD (Hypogonadotropic hypogonadism)","ClinVar (Hypogonadotropic hypogonadism)","HPO (Hypogonadotropic hypogonadism)","Disgenet (Hypopituitarism)","Disgenet (Growth hormone deficiency)","Disgenet (Kallmann syndrome)","Disgenet (Panhypopituitarism)","Disgenet (Pituitary dwarfism)","Disgenet (Pituitary short stature)"]
TACR3	9	["Hypogonadism","Hypogonadotropic hypogonadism","Hypopituitarism","Growth hormone deficiency","Kallmann syndrome","Panhypopituitarism","Pituitary dwarfism","Pituitary short stature","Sheehan syndrome"]	1	["G alpha (q) signalling events"]	13	["CTD (Hypogonadism)","Disgenet (Hypogonadism)","Disgenet (Hypogonadotropic hypogonadism)","CTD (Hypogonadotropic hypogonadism)","ClinVar (Hypogonadotropic hypogonadism)","HPO (Hypogonadotropic hypogonadism)","Disgenet (Hypopituitarism)","Disgenet (Growth hormone deficiency)","Disgenet (Kallmann syndrome)","Disgenet (Panhypopituitarism)","Disgenet (Pituitary dwarfism)","Disgenet (Pituitary short stature)"]
FEZF1	8	["Hypogonadotropic hypogonadism","Hypopituitarism","Growth hormone deficiency","Kallmann syndrome","Panhypopituitarism","Pituitary dwarfism","Pituitary short stature","Sheehan syndrome"]	0	[]	11	["Disgenet (Hypogonadotropic hypogonadism)","CTD (Hypogonadotropic hypogonadism)","ClinVar (Hypogonadotropic hypogonadism)","HPO (Hypogonadotropic hypogonadism)","Disgenet (Hypopituitarism)","Disgenet (Growth hormone deficiency)","Disgenet (Kallmann syndrome)","Disgenet (Panhypopituitarism)","Disgenet (Pituitary dwarfism)","Disgenet (Pituitary short stature)","Disgenet (Sheehan syndrome)"]
FGF17	8	["Hypogonadotropic hypogonadism","Hypopituitarism","Growth hormone deficiency","Kallmann syndrome","Panhypopituitarism","Pituitary dwarfism","Pituitary short stature","Sheehan syndrome"]	0	[]	11	["Disgenet (Hypogonadotropic hypogonadism)","CTD (Hypogonadotropic hypogonadism)","ClinVar (Hypogonadotropic hypogonadism)","HPO (Hypogonadotropic hypogonadism)","Disgenet (Hypopituitarism)","Disgenet (Growth hormone deficiency)","Disgenet (Kallmann syndrome)","Disgenet (Panhypopituitarism)","Disgenet (Pituitary dwarfism)","Disgenet (Pituitary short stature)","Disgenet (Sheehan syndrome)"]
SRA1	8	["Hypogonadotropic hypogonadism","Hypopituitarism","Growth hormone deficiency","Kallmann syndrome","Panhypopituitarism","Pituitary dwarfism","Pituitary short stature","Sheehan syndrome"]	0	[]	11	["Disgenet (Hypogonadotropic hypogonadism)","CTD (Hypogonadotropic hypogonadism)","ClinVar (Hypogonadotropic hypogonadism)","HPO (Hypogonadotropic hypogonadism)","Disgenet (Hypopituitarism)","Disgenet (Growth hormone deficiency)","Disgenet (Kallmann syndrome)","Disgenet (Panhypopituitarism)","Disgenet (Pituitary dwarfism)","Disgenet (Pituitary short stature)","Disgenet (Sheehan syndrome)"]

GNRHR (gonadotropin releasing hormone receptor)

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