BMP15, bone morphogenetic protein 15, 9210

N. diseases: 48; N. variants: 18
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.400 Biomarker disease BEFREE No significant difference was found in the expression of GDF-9 and BMP-15 in the oocytes and BMP-15 in the cumulus GCs of patients with PCOS and controls. 19376510 2010
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.400 Biomarker disease BEFREE GDF9 and BMP15 associations with oocyte number differed significantly (P < 0.05) with PCOS status. 31211369 2019
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.400 AlteredExpression disease BEFREE In addition, the expression of BMP15 in follicular fluid and Smad1 in granulosa cells was significantly decreased in the PCOS group compared with the control (P<0.05). 28983616 2017
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.400 GeneticVariation disease BEFREE These results are the first to indicate that BMP15 gene mutations may be potentially associated with PCOS patients. 22014425 2011
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.400 Biomarker disease BEFREE The immunoreactivity of growth differentiation factor 9 and bone morphogenetic protein 15 proteins decreased (p<0.05) in the Polycystic ovary syndrome group (27.73±8.43 and 24.85±7.03, respectively) compared with the control group (33.72±11.22 and 31.12±11.05, respectively) and vehicle group (33.95±10.75 and 29.99±10.72, respectively). 28903889 2018
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.400 GeneticVariation disease BEFREE The significant consequences of mutations in the GDF9 and BMP15 genes in women with dizygotic twins as well as the clinical relevance of these oocyte factors in the pathogenesis of primary ovarian insufficiency and polycystic ovary syndrome are also addressed. 29544636 2018
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.400 AlteredExpression disease BEFREE The abundance of GDF9 mRNA was significantly lower (P < 0.01) while the abundance of BMP15 mRNA was significantly higher (P < 0.001) in GCs from stimulated-PCOS group than in unstimulated-PCOS group. 23912750 2013
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.400 Biomarker 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
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.400 AlteredExpression disease BEFREE BMP15 and GDF9 expression per oocyte was higher among women with PCOS than the control group. 22825968 2012
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.400 AlteredExpression disease BEFREE By contrast, there were no qualitative or quantitative changes in the expression of BMP-15 mRNA in PCOS oocytes during folliculogenesis. 11889206 2002
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.400 AlteredExpression disease BEFREE In Graafian follicles, GDF9 and BMP15 expression reached comparable levels in the PCOS and control groups (P > 0.05). 25172094 2014
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.400 GeneticVariation disease BEFREE In this study, the BMP15 gene does not seem to be associated with PCOS. 17905236 2008
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.400 AlteredExpression disease BEFREE The results suggest that the expression of GDF9 and BMP15 in oocytes from patients with PCOS cannot reach the normal level even after ovarian stimulation and that the expression pattern is abnormal during oocyte maturation, which may be associated with impaired oocyte quality and developmental competence in PCOS. 21669410 2011
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.400 GeneticVariation disease BEFREE Caution is recommended in the interpretation of BMP15 mutations in the context of POF. 17826728 2008
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.400 GeneticVariation disease BEFREE A functional association between the BMP15 c.-9C>G promoter polymorphism and cause of POF have been reported. 25246117 2014
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.400 GeneticVariation disease BEFREE The objective of the study was to verify the involvement of BMP15 variations in a large POF population. 16464940 2006
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.400 GeneticVariation disease BEFREE The significant consequences of mutations in the GDF9 and BMP15 genes in women with dizygotic twins as well as the clinical relevance of these oocyte factors in the pathogenesis of primary ovarian insufficiency and polycystic ovary syndrome are also addressed. 29544636 2018
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.400 GeneticVariation disease BEFREE As genetic studies of the BMP-15 and/or GDF-9 genes in ewes established that a reduction of these proteins is associated with an increased ovulation rate, it is conceivable that women affected with these mutations may have an increased probability of bearing dizygotic twins during active reproductive ages before diagnosis with POI at later ages due to an earlier exhaustion of ovarian reserve. 20547206 2010
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.400 Biomarker disease BEFREE Recent functional studies have validated genetic factors (Progesterone receptor membrane component 1 (<i>PGRMC1</i>)), Fragile X mental retardation 1 (<i>FMR1</i>, <i>GDF9</i> and <i>BMP15</i>) as being causative of primary ovarian insufficiency (POI), <i>BMP15/GDF9</i> gene variants were found to have a high incidence on the POI phenotype. 31607184 2019
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.400 GeneticVariation disease BEFREE Alterations of the BMP15 gene have been found associated with different ovarian phenotypic effects depending on the species, from sterility to increased prolificacy in sheep, slight subfertility in mouse or associated with primary ovarian insufficiency (POI) in women. 24147118 2013
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.400 GeneticVariation disease BEFREE Similarly, large numbers of mutations in the GDF9 and BMP15 genes have been identified in women with premature ovarian failure and in mothers of dizygotic twins. 21226076 2011
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.400 GeneticVariation disease BEFREE Previous studies have discovered several mutations in the screening of BMP15 in premature ovarian failure but none in PCOS. 22014425 2011
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.400 GeneticVariation disease BEFREE In the human, a heterozygous point mutation of BMP15 has been associated with premature ovarian failure (POF). 16645022 2006
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.400 GeneticVariation disease BEFREE Bone morphogenetic protein 15 (BMP15) variants have been described in POI. 28094433 2017
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.400 GeneticVariation disease BEFREE This study has revealed a novel homozygous mutation of the BMP15 gene that may be associated with POI. 29169851 2018