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 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 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 UNIPROT 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 LHGDN In a second phase, we studied FSHr allele frequencies according to the severity of OHSS. 15579795 2004
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 Biomarker disease BEFREE Together with the two previous studies, this report shows that inappropriate stimulation of the FSHr by hCG is a cause of spontaneous OHSS. 15001619 2004
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
0.800 GeneticVariation disease BEFREE In a second phase, we studied FSHr allele frequencies according to the severity of OHSS. 15579795 2004
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
0.800 GeneticVariation disease UNIPROT Together with the two previous studies, this report shows that inappropriate stimulation of the FSHr by hCG is a cause of spontaneous OHSS. 15080154 2004
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 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 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 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 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 Biomarker disease CTD_human
Entrez Id: 10062
Gene Symbol: NR1H3
NR1H3
0.200 Biomarker disease MGD Absence of nuclear receptors for oxysterols liver X receptor induces ovarian hyperstimulation syndrome in mice. 19325005 2009
Entrez Id: 10062
Gene Symbol: NR1H3
NR1H3
0.200 Biomarker disease MGD Multiple roles of the nuclear receptors for oxysterols liver X receptor to maintain male fertility. 17341595 2007
Entrez Id: 10062
Gene Symbol: NR1H3
NR1H3
0.200 Biomarker disease MGD Cholesterol and bile acid metabolism are impaired in mice lacking the nuclear oxysterol receptor LXR alpha. 9630215 1998
Entrez Id: 10062
Gene Symbol: NR1H3
NR1H3
0.200 Biomarker disease MGD Reciprocal regulation of inflammation and lipid metabolism by liver X receptors. 12524534 2003
Entrez Id: 10062
Gene Symbol: NR1H3
NR1H3
0.200 Biomarker disease MGD Nogo-B receptor deficiency increases liver X receptor alpha nuclear translocation and hepatic lipogenesis through an adenosine monophosphate-activated protein kinase alpha-dependent pathway. 27480224 2016
Entrez Id: 1813
Gene Symbol: DRD2
DRD2
0.200 Therapeutic disease RGD Dopamine receptor 2 activation inhibits ovarian vascular endothelial growth factor secretion in an ovarian hyperstimulation syndrome (OHSS) animal model: implications for treatment of OHSS with dopamine receptor 2 agonists. 25217874 2014
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
0.100 AlteredExpression disease BEFREE We have shown that ovarian pigment epithelium derived factor (PEDF), a potent antiangiogenic factor, counteracts vascular endothelial growth factor (VEGF) expression and that OHSS is correlated with hCG-induced impaired PEDF to VEGF ratio. 26308290 2015
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
0.100 AlteredExpression disease BEFREE VEGF and EGR-1 levels were assessed, and binary logistic regression analysis was applied to predict associations between clinical variables and OHSS. 31004220 2019
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
0.100 AlteredExpression disease BEFREE The objective of the study was to compare the efficacy of letrozole, an aromatase inhibitor, with aspirin in primary prevention of early ovarian hyperstimulation syndrome and to compare vascular endothelial growth factor levels between groups. 27555316 2017
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
0.100 Biomarker disease BEFREE To assess whether polymorphisms of the VEGF/VEGF-receptor system contribute to the occurrence of ovarian hyperstimulation syndrome (OHSS), we performed a retrospective analysis of 116 OHSS patients, and 124 female controls. 24851136 2014
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
0.100 Biomarker disease BEFREE Vascular endothelial growth factor (VEGF) has been suggested to play a role in the pathophysiology of polycystic ovary syndrome (PCOS) and may contribute to increased risk of ovarian hyperstimulation syndrome (OHSS) in affected individuals. 28350328 2017