Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
0.310 GermlineCausalMutation disease ORPHANET A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics. 12571157 2003
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
0.310 GermlineCausalMutation disease ORPHANET A Novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure. 11889179 2002
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
0.310 GeneticVariation disease BEFREE We performed direct sequencing of all 10 exons of the FSHR gene in seven sporadic patients and two sisters with 46,XX pure gonadal dysgenesis, to investigate the cause of their disorder. 11223847 2001
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
0.310 GermlineCausalMutation disease ORPHANET Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. 7553856 1995