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: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		0.100 Biomarker phenotype HPO
CUI: C0003128
Disease: Anovulation
Anovulation 		0.010 GeneticVariation phenotype BEFREE Association of genetic markers within the BMP15 gene with anovulation and infertility in women with polycystic ovary syndrome. 17905236 2008
CUI: C0429468
Disease: Anovulatory (finding)
Anovulatory (finding) 		0.020 GeneticVariation disease BEFREE Association of genetic markers within the BMP15 gene with anovulation and infertility in women with polycystic ovary syndrome. 17905236 2008
CUI: C0429468
Disease: Anovulatory (finding)
Anovulatory (finding) 		0.020 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: C4023911
Disease: Aplasia/Hypoplasia of the breasts
Aplasia/Hypoplasia of the breasts 		0.100 Biomarker phenotype HPO
CUI: C4024640
Disease: Aplasia/hypoplasia of the uterus
Aplasia/hypoplasia of the uterus 		0.100 Biomarker phenotype HPO
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0.100 Biomarker disease HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0520927
Disease: Decreased fertility
Decreased fertility 		0.100 Biomarker phenotype HPO
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		0.100 Biomarker phenotype HPO
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.100 Biomarker phenotype HPO
CUI: C0154208
Disease: Disorder of endocrine ovary
Disorder of endocrine ovary 		0.010 GeneticVariation group BEFREE However, to date, there has been no consensus on the relationship between mutations in BMP-15 and ovarian dysfunction. 17464588 2007
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 Biomarker disease BEFREE BMP15 "knockout-like" effect in familial premature ovarian insufficiency with persistent ovarian reserve. 28094433 2017
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		0.100 Biomarker disease HPO
CUI: C0949595
Disease: Gonadal Dysgenesis, 46,XX
Gonadal Dysgenesis, 46,XX 		0.320 GermlineCausalMutation disease ORPHANET Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene. 15136966 2004
CUI: C0949595
Disease: Gonadal Dysgenesis, 46,XX
Gonadal Dysgenesis, 46,XX 		0.320 GeneticVariation disease BEFREE BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure. 17826728 2008
CUI: C0949595
Disease: Gonadal Dysgenesis, 46,XX
Gonadal Dysgenesis, 46,XX 		0.320 Biomarker disease BEFREE BMP15 defects are involved in the pathogenesis of hypergonadotropic ovarian failure in humans. 15136966 2004
CUI: C0239761
Disease: Gonadal hypoplasia
Gonadal hypoplasia 		0.100 Biomarker disease HPO
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.100 Biomarker phenotype HPO
CUI: C0019572
Disease: Hirsutism
Hirsutism 		0.100 Biomarker phenotype HPO
CUI: C0206081
Disease: Hyperandrogenism
Hyperandrogenism 		0.010 AlteredExpression disease BEFREE To detect expression of bone morphogenetic protein 15 (BMP15) and growth differentiation factor 9 (GDF9) in oocytes, and their receptor type 2 receptor for BMPs (BMPR2) in cumulus cells in women with polycystic ovary syndrome (PCOS) undergoing in vitro fertilization (IVF), and determine if BMPR2, BMP15, and GDF9 expression correlate with hyperandrogenism in FF of PCOS patients. 22825968 2012
CUI: C1862265
Disease: Increased circulating gonadotropin level
Increased circulating gonadotropin level 		0.100 Biomarker phenotype HPO
CUI: C0266399
Disease: Infantile uterus
Infantile uterus 		0.100 Biomarker disease HPO
CUI: C0241011
Disease: Low serum estradiol levels
Low serum estradiol levels 		0.100 Biomarker phenotype HPO