Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000 Biomarker MGD The murine winged-helix transcription factor Foxl2 is required for granulosa cell differentiation and ovary maintenance. 14736745

2004

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000 Biomarker MGD Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development. 15056605

2004

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000 GeneticVariation BEFREE Several breakpoints nearing FOXL2 (0 Mb to 1.2 Mb, several of which were distant from the 7.4 kb sequence disruption) have been mapped or deduced through a traditional method in BPES patients with chromosome reciprocal translocation. 25086333

2014

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000 GeneticVariation BEFREE FOXL2 mutations lead to different ovarian phenotypes in BPES patients: Case Report. 19819892

2010

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000 GeneticVariation BEFREE The novel deletion found could be involved in FOXL2 regulation and constitutes the smallest deletion described in a female with BPES. 22171663

2012

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000 GeneticVariation BEFREE Special attention is paid to FOXL2 whose mutations are responsible for the blepharophimosis syndrome, often associated with female infertility, and for cancer. 27604691

2017

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000 GeneticVariation UNIPROT Mutations of the FOXL2 gene have been shown to cause blepharophimosis syndrome (BPES), characterized by an eyelid malformation associated with premature ovarian failure or not. 18372316

2008

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000 Biomarker BEFREE Our data provide evidence in favour of the implication of FOXL2 variants in non-syndromic POF and confirm the regulatory interaction between FOXL2 and OSR2 whose perturbation might contribute to the palpebral abnormalities observed in BPES patients. 19429596

2009

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000 GeneticVariation BEFREE Blepharophimosis, Ptosis, and Epicanthus inversus Syndrome (BPES) is caused by autosomal dominant mutations in FOXL2. 31077882

2019

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000 GeneticVariation BEFREE Identification of the forkhead transcriptional factor 2 (FOXL2) gene mutations in four Chinese families with blepharophimosis syndrome. 24265544

2013

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000 GeneticVariation UNIPROT Mutations in the FOXL2 gene, encoding a forkhead transcription factor, are responsible for both types of BPES. 17089161

2007

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000 GeneticVariation UNIPROT Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients. 12938087

2003

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000 GeneticVariation BEFREE A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction. 17089161

2007

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000 GeneticVariation UNIPROT The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. 11175783

2001

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000 GeneticVariation BEFREE Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients. 18484667

2008

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000 GeneticVariation BEFREE Since then, a number of reports have appeared that describe intragenic FOXL2 mutations in BPES patients. 15300845

2004

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000 GeneticVariation BEFREE FOXL2 is a forkhead transcription factor, essential for ovarian function, whose mutations are responsible for the blepharophimosis syndrome, characterized by craniofacial defects, often associated with premature ovarian failure. 19010791

2009

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000 GeneticVariation UNIPROT Genetic analysis of a five generation Indian family with BPES: a novel missense mutation (p.Y215C). 15257268

2004

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000 GeneticVariation CLINVAR

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000 GeneticVariation BEFREE Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome. 18642388

2008

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000 GeneticVariation BEFREE Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients. 12938087

2003

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000 Biomarker BEFREE As a model for monogenic disease we studied the involvement of genetic changes of CNCs in the cis-regulatory domain of FOXL2 in blepharophimosis syndrome (BPES). 19543368

2009

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000 GeneticVariation UNIPROT In this study, we describe the identification of novel mutations in the FOXL2 gene in BPES types I and II families, in sporadic BPES patients, and in BPES families where the type could not be established. 11468277

2001

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000 GeneticVariation BEFREE A novel insertion in the forkhead transcription factor 2 (FOXL2) was identified in a Chilean patient with blepharophimosis, ptosis, and epicanthus inversus syndrome associated with premature ovarian failure (BPES type I). 24030029

2014

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000 GeneticVariation BEFREE A novel heterozygous mutation c.188 T > A (p.I63N) in FOXL2 was identified in two BPES patients in this family. 31823134

2020