Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2492
Gene name	Follicle stimulating hormone receptor
Gene symbol	FSHR
Synonyms (NCBI Gene)	FSHR1FSHROLGR1ODG1
Chromosome	2
Chromosome location	2p16.3
Summary	The protein encoded by this gene belongs to family 1 of G-protein coupled receptors. It is the receptor for follicle stimulating hormone and functions in gonad development. Mutations in this gene cause ovarian dysgenesis type 1, and also ovarian hyperstim

Show/Hide all (18)

SNP ID	Visualize variation	Clinical significance	Consequence
rs6165	C>A,G,T	Drug-response, benign	Coding sequence variant, missense variant, genic downstream transcript variant
rs28928870	G>A,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs28928871	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs121909658	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs121909659	A>G,T	Likely-pathogenic, pathogenic	Intron variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121909660	G>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs121909661	C>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs121909662	G>A,T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs121909663	T>C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs121909664	A>G,T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs121909665	G>T	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs386833510	G>C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs386833511	G>A	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs386833512	G>T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs386833513	G>C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs386833514	A>C	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs386833515	T>A,C	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs955385021	A>G	Pathogenic	5 prime UTR variant, initiator codon variant, missense variant, genic upstream transcript variant

Show/Hide all (12)

miRTarBase ID	miRNA	Experiments	Reference
MIRT440611	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440611	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1005489	hsa-miR-3200-5p	CLIP-seq
MIRT1005490	hsa-miR-4504	CLIP-seq
MIRT1005491	hsa-miR-4539	CLIP-seq
MIRT1005492	hsa-miR-542-3p	CLIP-seq
MIRT1005493	hsa-miR-758	CLIP-seq
MIRT2231551	hsa-miR-31	CLIP-seq
MIRT2231552	hsa-miR-4499	CLIP-seq
MIRT2231553	hsa-miR-4680-3p	CLIP-seq
MIRT2231554	hsa-miR-4696	CLIP-seq
MIRT2231555	hsa-miR-548an	CLIP-seq

Show/Hide all (4)

Transcription factor	Regulation	Reference
E2F1	Unknown	11883315
E2F5	Unknown	11883315
MTA2	Repression	23086931
NR5A1	Unknown	11328853

Show/Hide all (69)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001541	Process	Ovarian follicle development	IEA
GO:0001545	Process	Primary ovarian follicle growth	IEA
GO:0003073	Process	Regulation of systemic arterial blood pressure	IEA
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004963	Function	Follicle-stimulating hormone receptor activity	IBA
GO:0004963	Function	Follicle-stimulating hormone receptor activity	IDA	24692546
GO:0004963	Function	Follicle-stimulating hormone receptor activity	IEA
GO:0004963	Function	Follicle-stimulating hormone receptor activity	IMP	11847099
GO:0005515	Function	Protein binding	IPI	15196694, 17030088, 20600589
GO:0005768	Component	Endosome	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	11847099
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007165	Process	Signal transduction	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IDA	24692546
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007188	Process	Adenylate cyclase-modulating 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	IEA
GO:0007193	Process	Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IEA
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	TAS	9020851
GO:0007286	Process	Spermatid development	IEA
GO:0007292	Process	Female gamete generation	TAS	9020851
GO:0007626	Process	Locomotory behavior	IEA
GO:0008406	Process	Gonad development	TAS	9020851
GO:0008528	Function	G protein-coupled peptide receptor activity	IBA
GO:0008584	Process	Male gonad development	IBA
GO:0008584	Process	Male gonad development	IEP	17848411
GO:0008585	Process	Female gonad development	TAS	7553856
GO:0009725	Process	Response to hormone	IEA
GO:0009755	Process	Hormone-mediated signaling pathway	IBA
GO:0009986	Component	Cell surface	IEA
GO:0009992	Process	Intracellular water homeostasis	IEA
GO:0010640	Process	Regulation of platelet-derived growth factor receptor signaling pathway	IEA
GO:0010738	Process	Regulation of protein kinase A signaling	IMP	24058690
GO:0016020	Component	Membrane	IDA	24692546
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	9020851
GO:0016500	Function	Protein-hormone receptor activity	IEA
GO:0017046	Function	Peptide hormone binding	IEA
GO:0022602	Process	Ovulation cycle process	IEA
GO:0031175	Process	Neuron projection development	IEA
GO:0032350	Process	Regulation of hormone metabolic process	IEA
GO:0033044	Process	Regulation of chromosome organization	IEA
GO:0033146	Process	Regulation of intracellular estrogen receptor signaling pathway	IEA
GO:0033148	Process	Positive regulation of intracellular estrogen receptor signaling pathway	IEA
GO:0035092	Process	Sperm DNA condensation	IEA
GO:0038023	Function	Signaling receptor activity	IEA
GO:0042699	Process	Follicle-stimulating hormone signaling pathway	IBA
GO:0042699	Process	Follicle-stimulating hormone signaling pathway	IDA	24692546
GO:0042699	Process	Follicle-stimulating hormone signaling pathway	IEA
GO:0042699	Process	Follicle-stimulating hormone signaling pathway	IEA
GO:0042699	Process	Follicle-stimulating hormone signaling pathway	IMP	11847099
GO:0043235	Component	Receptor complex	IDA	24692546
GO:0043408	Process	Regulation of MAPK cascade	IEA
GO:0045056	Process	Transcytosis	IEA
GO:0045670	Process	Regulation of osteoclast differentiation	IEA
GO:0045779	Process	Negative regulation of bone resorption	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP	24058690
GO:0060009	Process	Sertoli cell development	IEA
GO:0060011	Process	Sertoli cell proliferation	IEA
GO:0060065	Process	Uterus development	IEA
GO:0060408	Process	Regulation of acetylcholine metabolic process	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IDA	24058690
GO:0071372	Process	Cellular response to follicle-stimulating hormone stimulus	IMP	11847099
GO:0071711	Process	Basement membrane organization	IEA

MIM	HGNC	e!Ensembl
136435	3969	ENSG00000170820

P23945

Protein name

Follicle-stimulating hormone receptor (FSH-R) (Follitropin receptor)

Protein function

G protein-coupled receptor for follitropin, the follicle-stimulating hormone (PubMed:11847099, PubMed:24058690, PubMed:24692546). Through cAMP production activates the downstream PI3K-AKT and ERK1/ERK2 signaling pathways (PubMed:24058690). {ECO:

PDB

1XWD , 4AY9 , 4MQW , 8I2G , 8I2H

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01462	LRRNT	17 → 45	Leucine rich repeat N-terminal domain	Family
PF13306	LRR_5	46 → 147	BspA type Leucine rich repeat region (6 copies)	Repeat
PF13306	LRR_5	139 → 257	BspA type Leucine rich repeat region (6 copies)	Repeat
PF12369	GnHR_trans	282 → 349	Gonadotropin hormone receptor transmembrane region	Family
PF00001	7tm_1	379 → 626	7 transmembrane receptor (rhodopsin family)	Family

Tissue specificity

TISSUE SPECIFICITY: Sertoli cells and ovarian granulosa cells.

Sequence

MALLLVSLLAFLSLGSGCHHRICHCSNRVFLCQESKVTEIPSDLPRNAIELRFVLTKLRV
IQKGAFSGFGDLEKIEISQNDVLEVIEADVFSNLPKLHEIRIEKANNLLYINPEAFQNLP
NLQYLLISNTGIKHLPDVHKIHSLQKVLLDIQDNINIHTIERNSFVGLSFESVILWLNKN
GIQEIHNCAFNGTQLDELNLSDNNNLEELPNDVFHGASGPVILDISRTRIHSLPSYGLEN
LKKLRARSTYNLKKLPTLEKLVALMEASLTYPSHCCAFANWRRQISELHPICNKSILRQE
VDYMTQARGQRSSLAEDNESSYSRGFDMTYTEFDYDLCNEVVDVTCSPKPDAFNPCEDIM
GYNILRVLIWFISILAITGNIIVLVILTTSQYKLTVPRFLMCNLAFADLCIGIYLLLIAS
VDIHTKSQYHNYAIDWQTGAGCDAAGFFTVFASELSVYTLTAITLERWHTITHAMQLDCK
VQLRHAASVMVMGWIFAFAAALFPIFGISSYMKVSICLPMDIDSPLSQLYVMSLLVLNVL
AFVVICGCYIHIYLTVRNPNIVSSSSDTRIAKRMAMLIFTDFLCMAPISFFAISASLKVP
LITVSKAKILLVLFHPINSCANPFLYAIFTKNFRRDFFILLSKCGCYEMQAQIYRTETSS
TVHNTHPRNGHCSSAPRVTNGSTYILVPLSHLAQN

Sequence length

695

Interactions

View interactions

	KEGG		Reactome
	cAMP signaling pathway Neuroactive ligand-receptor interaction Hormone signaling Ovarian steroidogenesis		Hormone ligand-binding receptors G alpha (s) signalling events ADORA2B mediated anti-inflammatory cytokines production

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)

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Amenorrhea	Pathogenic	rs955385021	RCV000626622	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dizygotic twins	Likely pathogenic	rs1674341013	RCV001250893	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Genetic non-acquired premature ovarian failure	Likely pathogenic; Pathogenic	rs2103991776, rs2104211236, rs2103994032, rs2103990288, rs776897994, rs2103990623, rs1411985137	RCV001661779 RCV001663367 RCV001663376 RCV001663382 RCV001663383 RCV001663384 RCV001663385 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary xanthinuria type 1	Likely pathogenic	rs1674341013	RCV005860172	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian dysgenesis 1	Pathogenic; Likely pathogenic	rs121909658, rs121909660, rs121909661, rs121909662, rs386833512, rs386833510, rs386833511, rs386833513, rs386833514, rs386833515, rs1674297842, rs1674323340	RCV000017630 RCV000017632 RCV000017636 RCV000017639 RCV000022553 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian hyperstimulation syndrome	Pathogenic	rs28928870, rs28928871, rs121909663, rs121909664, rs121909665	RCV000017637 RCV000017638 RCV000017640 RCV000017641 RCV000017642	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	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.
46 XX GONADAL DYSGENESIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERECTILE DYSFUNCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FSHR-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gonadal dysgenesis	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GONADAL DYSGENESIS, 46,XX	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian dysgenesis	Uncertain significance; Likely benign	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
POLYCYSTIC OVARY SYNDROME	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (165)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
46,XX gonadal dysgenesis	46, XX gonadal dysgenesis	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal Gland Neoplasms	Adrenal neoplasia	BEFREE	9626655		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amenorrhea	Amenorrhea	Pubtator	20237833, 25875778, 26911863, 31830376, 37255590, 39497500	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Anovulation	Anovulation	Pubtator	25179311, 25721191	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	37228156	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriovenous Malformations	Arteriovenous malformations	Pubtator	37864259	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	10727994		★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	16730882, 17161332, 19550076, 23184658, 24451955, 29584617, 30619093, 30668782, 9756276		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	22665589, 25652007		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25652007	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10914722, 12471615		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	23951246, 33374698, 8546225	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	22129368	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	12471615, 16168216, 16574671, 18980020, 19147210, 19181441, 19458022, 23404377, 23951246, 24658926, 25340291, 26112923, 29461120, 30145593, 31212758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinomatosis of peritoneal cavity	Peritoneal Carcinomatosis	BEFREE	30554854		★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Precocious Puberty	Central Precocious Puberty	BEFREE	19539204		★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	27844329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	27844329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	25179311	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	15955888	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	22665589		★★★★★ ★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective tissue disease	Pubtator	22208759	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness Sensorineural And Male Infertility	Deafness, sensorineural, and male infertility	Pubtator	32724273	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	25904635	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	26911863, 35051551	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
DOYNE HONEYCOMB RETINAL DYSTROPHY	Doyne Honeycomb Retinal Dystrophy	BEFREE	10585764		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	28534997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	BEFREE	27224263		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	19342032, 20817169, 21474127, 23139742, 25502184, 25935136, 29683332		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	19342032, 20817169, 21474127, 23139742, 25935136, 34125754, 34659133	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	23139742	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Enlarged polycystic ovaries	Enlarged polycystic ovaries	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	23688201	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	16168216, 18980020, 19147210, 19181441, 23404377, 23951246, 25340291		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	10914722, 12471615		★★★★★ ★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	BEFREE	20932654		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erectile dysfunction	Erectile Dysfunction	GWASDB_DG	20932654		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erectile dysfunction	Erectile Dysfunction	GWASCAT_DG	20932654		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Erectile Dysfunction	Erectile dysfunction	Pubtator	20932654	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Essential Hypertension	Hypertension	BEFREE	16864747		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	BEFREE	28775256		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Testotoxicosis	Testotoxicosis	BEFREE	10685529, 9562960		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Testotoxicosis	Testotoxicosis	Pubtator	10685529	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gliosarcoma	Gliosarcoma	Pubtator	17316362	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal dysgenesis	Pubtator	26438105, 9696229	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gonadal Dysgenesis	Gonadal Dysgenesis	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gonadal Dysgenesis 46 XX	46, xx gonadal dysgenesis	Pubtator	26911863	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis, 46,XX	Gonadal Dysgenesis	UNIPROT_DG	10551778, 11889179, 12571157, 12915623, 7553856, 9769327, 9851774		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gonadal Dysgenesis, 46,XX	Gonadal Dysgenesis	BEFREE	11223847, 16864747, 26911863, 7553856, 9020851		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gonadal Dysgenesis, 46,XX	Gonadal Dysgenesis	ORPHANET_DG	11889179, 12571157, 7553856		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gonadal Dysgenesis, 46,XX	Gonadal Dysgenesis	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gonadal Dysgenesis, 46,XX	Gonadal Dysgenesis	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gonadal Dysgenesis, 46,XX	Gonadal Dysgenesis	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gonadotropin-Resistant Ovary Syndrome	Gonadotropin-Resistant Ovary Syndrome	BEFREE	10468971, 12444891, 15249125, 30610662, 30691934, 31830376		★★★★★ ★☆☆☆☆ Found in Text Mining only
granulosa cell tumor	Granulosa Cell Tumor	BEFREE	10372736, 11056247, 11063655, 12199347, 19539204, 9435455		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	30926877	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Histiocytosis, Langerhans-Cell	Histiocytosis	BEFREE	9562960		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	BEFREE	19403562		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	30559440		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	16864747, 18063689		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	BEFREE	16630814		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	20087398, 20237833, 9696229	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	LHGDN	17356048		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	24058690		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	26112923		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile hemangioma	Hemangioma	BEFREE	29596087		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	14556822, 19342032, 24718625, 25721191, 25935136, 26404793, 31830376, 35305013	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Female	Female infertility	Pubtator	26404793	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	19550076, 20454649, 32724273	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	22129368	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	23688201	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leydig cell agenesis	Leydig Cell Agenesis	BEFREE	9562960		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	30021121		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25814288		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	28775256	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22665589, 25652007		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	12471615, 16574671, 18980020, 19147210, 19458022, 24658926, 26112923, 29461120, 30145593, 30554854, 31212758		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28677795, 30554854		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	18430895		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18980020, 25269615, 26112923, 27392476, 27435394, 29097913, 29461120, 30113652, 30728807, 30778333, 9756276		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Testicular Germ Cell Tumor	Malignant testicular germ cell tumor	BEFREE	18430895, 29179257		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	27844329		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	22665589		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	21688198		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	19093296		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine with Aura	BEFREE	19093296		★★★★★ ★☆☆☆☆ Found in Text Mining only
Navajo neurohepatopathy	Navajo neurohepatopathy	Pubtator	25179311	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10372736, 18430895, 19539204, 22732316, 23404377, 25652007, 27392476, 27435394, 29596087, 30113652, 30778333, 31485769, 31832114, 9100567, 9435455		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	22732316		★★★★★ ★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Primary ovarian failure	Ovarian Failure	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Functioning Pituitary Gland Neoplasm	Pituitary adenoma	BEFREE	31832114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	BEFREE	28224403		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	18063689, 21688198, 30476103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	24390680	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	16730882, 19550076, 20170288, 20569270, 21105990, 24451955, 9756276		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	16630814, 31581477		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	16530497, 30897497, 30906441		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	20335500	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis of vertebrae	Osteoporosis of vertebrae	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Cysts	Ovarian Cysts	BEFREE	10685529		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	16758348, 19031050, 25495063, 34346002, 38297261, 8546225	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian dysgenesis	Ovarian Dysgenesis	BEFREE	16195671, 20374735, 22665589, 8855829, 9039330, 9562960		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian Dysgenesis 2	Ovarian dysgenesis	Pubtator	26291798, 26911863, 9496345	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	10468971, 11163840, 11383926, 11756374, 11889179, 12398227, 12915623, 15249125, 16195671, 17305537, 17706202, 17826728, 18084009, 18591890, 19017414 View all (24 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	LHGDN	18591890		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Hyperstimulation Syndrome	Ovarian Hyperstimulation Syndrome	UNIPROT_DG	12930927, 12930928, 15080154, 16278261, 17721928, 24058690, 25581598		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian Hyperstimulation Syndrome	Ovarian Hyperstimulation Syndrome	BEFREE	14998941, 15001619, 15080154, 15579795, 15950638, 16034183, 16278261, 17074323, 17721928, 18159088, 18248882, 18321487, 19017414, 19573286, 20374735 View all (8 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian Hyperstimulation Syndrome	Ovarian Hyperstimulation Syndrome	LHGDN	14998941, 15579795, 15950638, 17721928, 18321487		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian Hyperstimulation Syndrome	Ovarian hyperstimulation syndrome	Pubtator	18166181, 18321487, 19499413, 24058690, 25495063, 30829738, 35178027, 36882810, 39497500	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian Hyperstimulation Syndrome	Ovarian Hyperstimulation Syndrome	ORPHANET_DG	18248882, 19573286		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian hyperstimulation syndrome	Ovarian Hyperstimulation Syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian Hyperstimulation Syndrome	Ovarian Hyperstimulation Syndrome	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian Hyperstimulation Syndrome	Ovarian Hyperstimulation Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian Hyperstimulation Syndrome, Familial Gestational Spontaneous	Ovarian Hyperstimulation Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	12471615, 16574671, 18980020, 19147210, 19458022, 19539204, 24658926, 26112923, 27435394, 29461120, 30145593, 31212758		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	16168216		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	10685529, 31212758, 31830376, 32796926, 33374698, 39497500, 8546225	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal ventricular fibrillation	Paroxysmal ventricular fibrillation	Pubtator	28825151, 30340493	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	20237833	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	23042261	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	24058690		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	23042261, 25554615	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	23617956		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	10468971, 11163840, 11383926, 17179193, 17259794, 18697861, 19342032, 19401323, 19403562, 20399696, 20514429, 21792664, 22429116, 22885925, 23118426 View all (14 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	11163840, 21792664, 22429116, 23118426, 23536150, 24390680, 25179311, 25303487, 25649397, 25721191, 25904635, 26220222, 26273622, 28547204, 31276164, 36246893, 38008503, 39273163 View all (3 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	LHGDN	18697861		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	GWASCAT_DG	22885925		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	GWASDB_DG	22885925		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	CTD_human_DG	22885925		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Precocious Puberty	Precocious puberty	BEFREE	19539204		★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	10468971, 11163840, 11383926, 11889179, 12398227, 12915623, 15249125, 16195671, 17305537, 17706202, 17826728, 18591890, 19017414, 20086006, 20399696 View all (20 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	BEFREE	11079450, 12571157, 20087398, 20237833, 28591755		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Hypothyroidism	Hypothyroidism	BEFREE	16714722, 17937064		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	BEFREE	11420132, 11889179, 12571157, 12915623, 19172541, 20237833, 25875778, 26911863		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	GWASCAT_DG	20932654		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate carcinoma	Prostate cancer	BEFREE	28677795, 30554854		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23688201	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pure Gonadal Dysgenesis, 46, XX	46,XX gonadal dysgenesis	BEFREE	11223847		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pure Gonadal Dysgenesis, 46, XX	46,XX gonadal dysgenesis	ORPHANET_DG	11889179, 12571157, 7553856		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	24058690		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sclerocystic Ovaries	Sclerocystic Ovaries	CTD_human_DG	22885925		★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary physiologic amenorrhea	Secondary Physiologic Amenorrhea	BEFREE	11163840, 19017414, 20237833, 23953588		★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary physiologic amenorrhea	Secondary Physiologic Amenorrhea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sex Cord-Stromal Tumor	Sex Cord-Stromal Tumor	BEFREE	11056247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Strawberry nevus of skin	Strawberry Nevus Of Skin	BEFREE	29596087		★★★★★ ★☆☆☆☆ Found in Text Mining only
Streak ovary	Streak ovary	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Subfertility	Subfertility	BEFREE	16730882, 25721191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Diseases	Testicular disease	Pubtator	33236519	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	18430895		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	9039330		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	25495063	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner syndrome	Pubtator	37255590	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital Abnormalities	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	27844329	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation, Paroxysmal Familial, 1	Ventricular Fibrillation	BEFREE	19017414, 21752882		★★★★★ ★☆☆☆☆ Found in Text Mining only
XX males	XX Males	BEFREE	30252024		★★★★★ ★☆☆☆☆ Found in Text Mining only

FSHR (follicle stimulating hormone receptor)