Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
CUI: C0949595
Disease: Gonadal Dysgenesis, 46,XX
Gonadal Dysgenesis, 46,XX 		0.750 GeneticVariation UNIPROT Delayed puberty and primary amenorrhea associated with a novel mutation of the human follicle-stimulating hormone receptor: clinical, histological, and molecular studies. 12915623

2003
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
CUI: C0949595
Disease: Gonadal Dysgenesis, 46,XX
Gonadal Dysgenesis, 46,XX 		0.750 GeneticVariation UNIPROT 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
CUI: C0949595
Disease: Gonadal Dysgenesis, 46,XX
Gonadal Dysgenesis, 46,XX 		0.750 GeneticVariation UNIPROT A Novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure. 11889179

2002
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
CUI: C0949595
Disease: Gonadal Dysgenesis, 46,XX
Gonadal Dysgenesis, 46,XX 		0.750 GeneticVariation UNIPROT New natural inactivating mutations of the follicle-stimulating hormone receptor: correlations between receptor function and phenotype. 10551778

1999
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
CUI: C0949595
Disease: Gonadal Dysgenesis, 46,XX
Gonadal Dysgenesis, 46,XX 		0.750 GeneticVariation UNIPROT The frequency of an inactivating point mutation (566C-->T) of the human follicle-stimulating hormone receptor gene in four populations using allele-specific hybridization and time-resolved fluorometry. 9851774

1998
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
CUI: C0949595
Disease: Gonadal Dysgenesis, 46,XX
Gonadal Dysgenesis, 46,XX 		0.750 GeneticVariation UNIPROT A novel phenotype related to partial loss of function mutations of the follicle stimulating hormone receptor. 9769327

1998
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
CUI: C0949595
Disease: Gonadal Dysgenesis, 46,XX
Gonadal Dysgenesis, 46,XX 		0.750 GeneticVariation UNIPROT Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. 7553856

1995