Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
0.800 GeneticVariation disease BEFREE Inferring biallelism of two FSH receptor mutations associated with spontaneous ovarian hyperstimulation syndrome by evaluating FSH, LH and HCG cross-activity. 30910395 2019
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
0.800 Biomarker disease BEFREE AMHR-II: anti-müllerian hormone receptor-II; 3β-HSD: 3β-hydroxysteroid dehydrogenase; Cyp11a1: Cytochrome P450 Family 11 Subfamily A Member 1; Cyp19a1: cytochrome P450 aromatase; DHEA: dehydroepiandrosterone; FSH: follicle stimulating hormone; FSHR: follicle stimulating hormone receptor; IVF: in vitro fertilization; 25OHD: 25-hydroxy vitamin D; OHSS: ovarian hyperstimulation syndrome; PCOS: polycystic ovarian syndrome; P450scc: P450 side-chain cleavage enzyme; StAR: steroidogenic acute regulatory protein; VDRs: vitamin D receptors. 28345956 2017
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
0.800 GeneticVariation disease BEFREE First mutation in the FSHR cytoplasmic tail identified in a non-pregnant woman with spontaneous ovarian hyperstimulation syndrome. 28446136 2017
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
0.800 GeneticVariation disease UNIPROT In the present study, we describe the functional characterization of the two mutations Val(514)Ala (novel mutation) and Ala(575)Val in FSH receptor (FSHR) identified in women with OHSS developed during in vitro fertilization and primary amenorrhea, respectively. 25581598 2015
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
0.800 GeneticVariation disease BEFREE A case of ovarian torsion in a patient carrier of a FSH receptor gene mutation previously affected by spontaneous ovarian hyperstimulation syndrome. 25495063 2015
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
0.800 GeneticVariation disease BEFREE In the present study, we describe the functional characterization of the two mutations Val(514)Ala (novel mutation) and Ala(575)Val in FSH receptor (FSHR) identified in women with OHSS developed during in vitro fertilization and primary amenorrhea, respectively. 25581598 2015
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
0.800 GeneticVariation disease BEFREE Activating human FSHR mutants have also been described in both sexes, leading to a phenotype of normal testis function (male) or spontaneous ovarian hyperstimulation syndrome (females). 23184658 2013
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
0.800 GeneticVariation disease UNIPROT Molecular analysis of a mutated FSH receptor detected in a patient with spontaneous ovarian hyperstimulation syndrome. 24058690 2013
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
0.800 GeneticVariation disease BEFREE Molecular analysis of a mutated FSH receptor detected in a patient with spontaneous ovarian hyperstimulation syndrome. 24058690 2013
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
0.800 GeneticVariation disease BEFREE This clinical case presents for the first time two occurrences of spontaneous OHSS in a single woman with a FSHR mutation and two different entities. 20378412 2010
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
0.800 GeneticVariation disease LHGDN FSH receptor polymorphisms, serum FSH, and estradiol levels, amount of FSH administered, occurrence of ovarian hyperstimulation syndrome (OHSS). 18321487 2009
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
0.800 GeneticVariation disease BEFREE Gain-of-function mutations in the FSHR cause spontaneous ovarian hyperstimulation syndrome in females due to the inappropriate stimulation of the mutant FSHR by human choriogonadotropin. 20374735 2009
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
0.800 SusceptibilityMutation disease ORPHANET Polymorphism of the FSHR, Ser680Asn, in the FSHR gene is a predictor of the severity of symptoms in patients who develop OHSS. 19573286 2009
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
0.800 GeneticVariation disease BEFREE Polymorphism of the FSHR, Ser680Asn, in the FSHR gene is a predictor of the severity of symptoms in patients who develop OHSS. 19573286 2009
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
0.800 GeneticVariation disease BEFREE Follicle-stimulating hormone receptor polymorphism (Thr307Ala) is associated with variable ovarian response and ovarian hyperstimulation syndrome in Indian women. 18321487 2009
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
0.800 Biomarker disease BEFREE Beside point mutations, FSHR gene polymorphisms at specific sites (e.g., codons 307 and 680) may influence FSHR protein responsiveness to exogenous FSH, and finally affect the effectiveness of in vitro fertilization (IVF) treatment as well as the likelihood of developing a severe OHSS as a consequence of superovulation. 19017414 2008
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
0.800 GeneticVariation disease LHGDN Identification of the first germline mutation in the extracellular domain of the follitropin receptor responsible for spontaneous ovarian hyperstimulation syndrome. 17721928 2008
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
0.800 GeneticVariation disease BEFREE Ninety-one ART patients with OHSS, eighty-eight ART patients without OHSS and ninety-seven women with assumed normal fecundity were analysed for the FSHR single nucleotide polymorphism (SNP) gene variations Asn680Ser (rs6166), Ala189Val, Ile160Thr, Thr449Ile (rs28928870) and the CYP19A1 rs10046 locus using real-time PCR. 18159088 2008
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
0.800 GeneticVariation disease UNIPROT Identification of the first germline mutation in the extracellular domain of the follitropin receptor responsible for spontaneous ovarian hyperstimulation syndrome. 17721928 2008
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
0.800 GeneticVariation disease BEFREE Identification of the first germline mutation in the extracellular domain of the follitropin receptor responsible for spontaneous ovarian hyperstimulation syndrome. 17721928 2008
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
0.800 SusceptibilityMutation disease ORPHANET Susceptibility to iatrogenic OHSS or its clinical severity may be associated with FSHR polymorphisms with slightly different activities in vivo as suggested by several studies. 18248882 2008
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
0.800 GeneticVariation disease BEFREE Susceptibility to iatrogenic OHSS or its clinical severity may be associated with FSHR polymorphisms with slightly different activities in vivo as suggested by several studies. 18248882 2008
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
0.800 GeneticVariation disease BEFREE No association was found between polymorphisms of the coding region of LHR or FSHR genes and the development of OHSS. 17074323 2007
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
0.800 GeneticVariation disease BEFREE Presence and absence of follicle-stimulating hormone receptor mutations provide some insights into spontaneous ovarian hyperstimulation syndrome physiopathology. 16278261 2006
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
0.800 GeneticVariation disease UNIPROT Presence and absence of follicle-stimulating hormone receptor mutations provide some insights into spontaneous ovarian hyperstimulation syndrome physiopathology. 16278261 2006