GDF9, growth differentiation factor 9, 2661

N. diseases: 44; N. variants: 11
Disease: Premature Menopause ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.100 GeneticVariation disease BEFREE Association of BMP15 and GDF9 variants to premature ovarian insufficiency. 31392662 2019
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.100 Biomarker disease BEFREE The role of BMP15 and GDF9 in the pathogenesis of primary ovarian insufficiency. 31607184 2019
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.100 GeneticVariation disease BEFREE Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing. 29044499 2018
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.100 GeneticVariation disease BEFREE In the four SNPs identified across the GDF9 loci, D57Y (169G>T), rs1049127 (546G>A), rs254286 (447C>T) and rs254285 (969C>G), the frequencies of the 546G>A genotype and allele A were significantly higher in the POF group, compared with the normal control group (34.92, vs. 6.90%; P<0.05 and 19.05, vs. 3.23%; P<0.05, respectively), while no significant differences were observed in the occurrence of the c.447C>T and c.969C>G mutations between the two groups (60.32, vs. 50% and 50.79, vs. 55.17%, respectively). 25954833 2015
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.100 GeneticVariation disease BEFREE Remarkably, three prodomain mutations associated with premature ovarian failure (S186Y, V216M, and T238A) all resulted in the activation of hGDF9. 24438375 2014
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.100 GeneticVariation disease BEFREE Previous studies have discovered several mutations in the screening of GDF9 in premature ovarian failure but none in PCOS. 20705511 2010
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.100 GeneticVariation disease BEFREE This case-control study was designed for mutational analysis of the GDF9 coding region in a cohort of women with premature ovarian failure (n = 127), primary amenorrhea (n = 58), and secondary amenorrhea (n = 10) compared with controls (n = 220). 16278619 2007
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.100 GeneticVariation disease BEFREE Mutational analysis of the GDF9 gene in 61 women with POF. 17156781 2007
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.100 GeneticVariation disease BEFREE Analyses of GDF9 mutation in 100 Chinese women with premature ovarian failure. 17482612 2007
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.100 AlteredExpression disease BEFREE Towards the molecular analysis of their functional contribution to the genetic aetiology of POF in the clinic, an interdisciplinary scheme for their diagnostic analysis is presented in a pilot study focussed on chromosome analyses and the expression analysis of some major POF candidate genes (DAZL, DBX, FOXL2, INHalpha, GDF9, USP9X) in the leukocytes of 101 POF patients. 16719785 2006
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.100 GeneticVariation disease BEFREE We propose that although mutations in BMP15 and GDF9 are not a major cause of ovarian insufficiency, they may be involved in POF. 16645022 2006
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.100 Biomarker disease BEFREE Mutational analysis of BMP15 and GDF9 as candidate genes for premature ovarian failure. 17027369 2006
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		0.100 GeneticVariation disease BEFREE The missense mutation in the GDF-9 gene or the GDF-9B/BMP-15 gene is uncommon in anovulatory Japanese women with POF and PCOS. 11056243 2000