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 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

2016

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000 GeneticVariation BEFREE This study highlights the importance of early recognition of BPES and emphasizes the need of personalized therapy and follow-up in female patients carrying distinct FOXL2 mutations. 26100530

2016

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000 AlteredExpression BEFREE A piggyBac insertion disrupts Foxl2 expression that mimics BPES syndrome in mice. 24565867

2015

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000 GeneticVariation BEFREE In addition, both the 213 kb upstream and intragenic interruptions of FOXL2 can cause BPES phenotype. 25086333

2015

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000 GeneticVariation BEFREE Thus, decreased apoptotic and antiproliferative activities caused by mutant forms of FOXL2 found in BPES patients may at least partially contribute to the pathophysiology of ovarian dysfunction. 24240106

2014

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

2014

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000 GeneticVariation BEFREE Results of molecular analysis indicate that there may be loci other than the FOXL2 gene, which are affected in BPES cases. 23513057

2013

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000 GeneticVariation BEFREE This study aimed at identifying clinical features and mutations within the FOXL2 gene in three Chinese families with BPES. 23441113

2013

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000 GeneticVariation BEFREE The combination of polyalanine expansion mutation and a novel missense substitution in transcription factor FOXL2 leads to different ovarian phenotypes in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) patients. 22926839

2013

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000 AlteredExpression BEFREE In agreement with the BPES phenotype, FOXL2 is expressed in the developing eyelids and in fetal and adult ovaries. 22248822

2012

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 This is the first study demonstrating a severe BPES phenotype resulting from a FOXL2 missense mutation outside the forkhead domain, expanding our knowledge about the phenotypic consequences of missense mutations outside the forkhead domain in BPES. 22312189

2012

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000 GeneticVariation BEFREE Mutation spectrum of fork-head transcriptional factor gene (FOXL2) in Indian Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) patients. 21325395

2011

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000 GeneticVariation BEFREE FOXL2 mutations in Chinese families with Blepharophimosis syndrome (BPES). 21146150

2011

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000 GeneticVariation BEFREE The results came back with no novel mutations but one common 30 bp duplication within FOXL2 polyalanine tract in the abovementioned POF plus BPES patient, suggesting mutations in FOXL2 gene was not common among Chinese patients with POF. 20222838

2010

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000 GeneticVariation BEFREE Our results expand the spectrum of FOXL2 mutations and confirm the mutation hotspot in FOXL2 in Taiwanese BPES patients. 20184535

2010

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

2010

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000 Biomarker BEFREE FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions. 20232352

2010

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 UNIPROT Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients. 18484667

2010

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 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 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 FOXL2 mutations and genomic rearrangements in BPES. 18726931

2009

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

2008