DisGeNET - a database of gene-disease associations

FOXL2, forkhead box L2, 668

N. diseases: 137; N. variants: 102

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121908359

Entrez Id:	668;401089
Gene Symbol:	FOXL2;FOXL2NB

FOXL2;FOXL2NB

CUI:	C1837008
Disease:

PREMATURE OVARIAN FAILURE 3 (disorder)

0.800

GeneticVariation

UNIPROT

Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2.

19429596

2009

dbSNP:

rs387906920

Entrez Id:	668;401089
Gene Symbol:	FOXL2;FOXL2NB

FOXL2;FOXL2NB

CUI:	C0220663
Disease:

BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)

0.800

GeneticVariation

UNIPROT

Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation.

18372316

2008

dbSNP:

rs387906920

Entrez Id:	668;401089
Gene Symbol:	FOXL2;FOXL2NB

FOXL2;FOXL2NB

CUI:	C0220663
Disease:

BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)

0.800

GeneticVariation

UNIPROT

Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome.

18642388

2008

dbSNP:

rs387906920

Entrez Id:	668;401089
Gene Symbol:	FOXL2;FOXL2NB

FOXL2;FOXL2NB

CUI:	C0220663
Disease:

BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)

0.800

GeneticVariation

UNIPROT

Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients.

18484667

2008

dbSNP:

rs387906920

Entrez Id:	668;401089
Gene Symbol:	FOXL2;FOXL2NB

FOXL2;FOXL2NB

CUI:	C0220663
Disease:

BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)

0.800

GeneticVariation

UNIPROT

A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction.

17089161

2007

dbSNP:

rs387906920

Entrez Id:	668;401089
Gene Symbol:	FOXL2;FOXL2NB

FOXL2;FOXL2NB

CUI:	C0220663
Disease:

BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)

0.800

GeneticVariation

UNIPROT

Three novel FOXL2 gene mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.

16454982

2006

dbSNP:

rs387906920

Entrez Id:	668;401089
Gene Symbol:	FOXL2;FOXL2NB

FOXL2;FOXL2NB

CUI:	C0220663
Disease:

BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)

0.800

GeneticVariation

UNIPROT

Genetic analysis of a five generation Indian family with BPES: a novel missense mutation (p.Y215C).

15257268

2004

dbSNP:

rs387906920

Entrez Id:	668;401089
Gene Symbol:	FOXL2;FOXL2NB

FOXL2;FOXL2NB

CUI:	C0220663
Disease:

BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)

0.800

GeneticVariation

UNIPROT

Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle.

12630957

2003

dbSNP:

rs387906920

Entrez Id:	668;401089
Gene Symbol:	FOXL2;FOXL2NB

FOXL2;FOXL2NB

CUI:	C0220663
Disease:

BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)

0.800

GeneticVariation

UNIPROT

FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.

12529855

2003

dbSNP:

rs387906920

Entrez Id:	668;401089
Gene Symbol:	FOXL2;FOXL2NB

FOXL2;FOXL2NB

CUI:	C0220663
Disease:

BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)

0.800

GeneticVariation

UNIPROT

Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients.

12938087

2003

dbSNP:

rs121908359

Entrez Id:	668;401089
Gene Symbol:	FOXL2;FOXL2NB

FOXL2;FOXL2NB

CUI:	C1837008
Disease:

PREMATURE OVARIAN FAILURE 3 (disorder)

0.800

GeneticVariation

UNIPROT

Identification of novel mutations in FOXL2 associated with premature ovarian failure.

12149404

2002

dbSNP:

rs387906920

Entrez Id:	668;401089
Gene Symbol:	FOXL2;FOXL2NB

FOXL2;FOXL2NB

CUI:	C0220663
Disease:

BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)

0.800

GeneticVariation

UNIPROT

Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families.

12400065

2002

dbSNP:

rs387906920

Entrez Id:	668;401089
Gene Symbol:	FOXL2;FOXL2NB

FOXL2;FOXL2NB

CUI:	C0220663
Disease:

BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)

0.800

GeneticVariation

UNIPROT

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.

11468277

2001

dbSNP:

rs387906920

Entrez Id:	668;401089
Gene Symbol:	FOXL2;FOXL2NB

FOXL2;FOXL2NB

CUI:	C0220663
Disease:

BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)

0.800

GeneticVariation

UNIPROT

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.

11175783

2001

dbSNP:

rs121908359

Entrez Id:	668;401089
Gene Symbol:	FOXL2;FOXL2NB

FOXL2;FOXL2NB

CUI:	C1837008
Disease:

PREMATURE OVARIAN FAILURE 3 (disorder)

0.800

CausalMutation

CLINVAR

dbSNP:

rs28937885

Entrez Id:	668;401089;103344930
Gene Symbol:	FOXL2;FOXL2NB;LINC01391

FOXL2;FOXL2NB;LINC01391

CUI:	C1837008
Disease:

PREMATURE OVARIAN FAILURE 3 (disorder)

0.800

CausalMutation

CLINVAR

dbSNP:

rs28937885

Entrez Id:	668;401089;103344930
Gene Symbol:	FOXL2;FOXL2NB;LINC01391

FOXL2;FOXL2NB;LINC01391

CUI:	C1837008
Disease:

PREMATURE OVARIAN FAILURE 3 (disorder)

0.800

GeneticVariation

UNIPROT

dbSNP:

rs387906920

Entrez Id:	668;401089
Gene Symbol:	FOXL2;FOXL2NB

FOXL2;FOXL2NB

CUI:	C0220663
Disease:

BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)

0.800

CausalMutation

CLINVAR

dbSNP:

rs797044527

Entrez Id:	668;401089
Gene Symbol:	FOXL2;FOXL2NB

FOXL2;FOXL2NB

CUI:	C0220663
Disease:

BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)

0.800

CausalMutation

CLINVAR

dbSNP:

rs797044527

Entrez Id:	668;401089
Gene Symbol:	FOXL2;FOXL2NB

FOXL2;FOXL2NB

CUI:	C0220663
Disease:

BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)

0.800

GeneticVariation

CLINVAR

dbSNP:

rs797044527

Entrez Id:	668;401089
Gene Symbol:	FOXL2;FOXL2NB

FOXL2;FOXL2NB

CUI:	C0220663
Disease:

BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)

0.800

GeneticVariation

UNIPROT

dbSNP:

rs1057516168

Entrez Id:	668;401089
Gene Symbol:	FOXL2;FOXL2NB

FOXL2;FOXL2NB

CUI:	C0220663
Disease:

BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)

0.710

GeneticVariation

BEFREE

DNA sequence analysis showed that the BPES phenotype in this family was caused by a novel missense mutation, c.881A->G (p.Y215C).

15257268

2004

dbSNP:

rs1057516168

Entrez Id:	668;401089
Gene Symbol:	FOXL2;FOXL2NB

FOXL2;FOXL2NB

CUI:	C0220663
Disease:

BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)

0.710

CausalMutation

CLINVAR

dbSNP:

rs104893737

Entrez Id:	668;401089
Gene Symbol:	FOXL2;FOXL2NB

FOXL2;FOXL2NB

CUI:	C2931135
Disease:

Blepharophimosis syndrome type 1

0.700

CausalMutation

CLINVAR

dbSNP:

rs104893738

Entrez Id:	668;401089;103344930
Gene Symbol:	FOXL2;FOXL2NB;LINC01391

FOXL2;FOXL2NB;LINC01391

CUI:	C2931135
Disease:

Blepharophimosis syndrome type 1

0.700

CausalMutation

CLINVAR