DisGeNET - a database of gene-disease associations

Ovarian Dysgenesis 2, C1845294

Variant: rs782379521 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs782379521

BMP15

0.700

GeneticVariation

UNIPROT

Analyses of growth differentiation factor 9 (GDF9) and bone morphogenetic protein 15 (BMP15) mutation in Chinese women with premature ovarian failure.

19438907

2010

dbSNP:

rs782379521

BMP15

0.700

GeneticVariation

UNIPROT

BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein.

19263482

2009

dbSNP:

rs782379521

BMP15

0.700

GeneticVariation

UNIPROT

Identification of new variants of human BMP15 gene in a large cohort of women with premature ovarian failure.

16464940

2006

dbSNP:

rs782379521

BMP15

0.700

GeneticVariation

UNIPROT

Missense mutations in the BMP15 gene are associated with ovarian failure.

16508750

2006

dbSNP:

rs782379521

BMP15

0.700

GeneticVariation

UNIPROT

Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure.

16645022

2006