DisGeNET - a database of gene-disease associations

rs121908359, FOXL2NB;FOXL2

N. diseases: 4

Disease: Ovarian Failure, Premature ×

Source: ALL

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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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Ovarian Failure, Premature

CUI:	C0085215
Disease:	Ovarian Failure, Premature

0.010

GeneticVariation

BEFREE

We describe a FOXL2 variant (p.Gly187Asp) in a case of POF without BPES.

2009