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 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 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 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 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 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 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

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 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 Genomic rearrangements comprising both deletions encompassing FOXL2 and deletions located outside its transcription unit, represent 12% and 5% of all genetic defects in our BPES cohort, respectively. 18726931

2009

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000 GeneticVariation BEFREE Mutations in FOXL2 underlie a fraction of BPES cases. 30198434

2018

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
1.000 GeneticVariation BEFREE Premature ovarian insufficiency as a variable feature of blepharophimosis, ptosis, and epicanthus inversus syndrome associated with c.223C > T p.(Leu75Phe) FOXL2 mutation: a case report. 31366388

2019

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 The elucidation of the impact of FOXL2 mutations on its function will allow a better understanding of the pathogenic mechanisms underlying the BPES phenotype. 18155828

2008

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 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