| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.810 | GeneticVariation | BEFREE | To understand the structural basis of receptor modulation, we choose two behaviorally contradicting mutations, namely S128Y (activating) and D224Y (inactivating), found in FSH receptor responsible for ovarian hyperstimulation syndrome and ovarian dysgenesis, respectively. | 30390320 | 2018 |
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|
0.810 | GeneticVariation | UNIPROT | Functional characterization of two naturally occurring mutations (Val514Ala and Ala575Val) in follicle-stimulating hormone receptor. | 25581598 | 2015 |
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|
0.810 | GeneticVariation | UNIPROT | Molecular analysis of a mutated FSH receptor detected in a patient with spontaneous ovarian hyperstimulation syndrome. | 24058690 | 2013 |
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|
0.810 | GeneticVariation | UNIPROT | Identification of the first germline mutation in the extracellular domain of the follitropin receptor responsible for spontaneous ovarian hyperstimulation syndrome. | 17721928 | 2008 |
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|
0.810 | GeneticVariation | UNIPROT | Presence and absence of follicle-stimulating hormone receptor mutations provide some insights into spontaneous ovarian hyperstimulation syndrome physiopathology. | 16278261 | 2006 |
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|
0.810 | GeneticVariation | UNIPROT | A mutation in the follicle-stimulating hormone receptor as a cause of familial spontaneous ovarian hyperstimulation syndrome. | 15080154 | 2004 |
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|
0.810 | GeneticVariation | UNIPROT | Ovarian hyperstimulation syndrome due to a mutation in the follicle-stimulating hormone receptor. | 12930928 | 2003 |
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|
0.810 | GeneticVariation | UNIPROT | A chorionic gonadotropin-sensitive mutation in the follicle-stimulating hormone receptor as a cause of familial gestational spontaneous ovarian hyperstimulation syndrome. | 12930927 | 2003 |
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|
T | 0.810 | CausalMutation | CLINVAR |