Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
0.100 GeneticVariation disease BEFREE Clinical characterization and identification of five novel FOXL2 pathogenic variants in a cohort of 12 Mexican subjects with the syndrome of blepharophimosis-ptosis-epicanthus inversus. 31048069 2019
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
0.100 AlteredExpression disease BEFREE Forkhead box L2 (FOXL2) is a transcription factor, which is involved in blepharophimosis, ptosis, and epicanthus in versus syndrome (BPES), premature ovarian failure (POF), as well as almost all stages of ovarian development and function. 28677787 2017
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
0.100 GeneticVariation disease BEFREE Germline mutations of the fork-head transcriptional factor forkhead box L2 (FOXL2) predispose embryos to autosomal-dominant blepharophimosis-ptosis-epicanthus inversus syndrome with primary ovarian insufficiency in female patients, but the mechanisms of FOXL2 in ovarian follicular development remain elusive. 27252187 2017
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
0.100 GeneticVariation disease BEFREE Analysis of FOXL2 detects three novel mutations and an atypical phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome. 27283035 2016
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
0.100 GeneticVariation disease BEFREE Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome. 26323275 2015
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
0.100 GeneticVariation disease BEFREE Blepharophimosis-ptosis-epicanthus inversus syndrome is an autosomal dominant condition because of mutations or deletions of the FOXL2 gene. 24725350 2014
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
0.100 GeneticVariation disease BEFREE Blepharophimosis syndrome is a recognizable ocular phenotype (blepharophimosis, telecanthus, ptosis, and epicanthus inversus) caused by heterozygous (dominant) intragenic mutation in FOXL2 (chromosome 3q23), which can also cause premature ovarian failure. 25032695 2014
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
0.100 GeneticVariation disease BEFREE A novel insertion in the FOXL2 gene in a Chilean patient with blepharophimosis ptosis epicanthus inversus syndrome type I. 24030029 2014
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
0.100 GeneticVariation disease BEFREE Genetic analysis of the FOXL2 gene using quantitative real-time PCR in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome. 21321671 2011
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
0.100 GeneticVariation disease BEFREE Premature ovarian failure in the autosomal dominant disorder blepharophimosis-ptosis-epicanthus inversus is due to mutations in the gene encoding Forkhead L2 (FOXL2), producing putative truncated proteins. 21862621 2011
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
0.100 GeneticVariation disease BEFREE Mutations of the transcription factor FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome. 19371227 2009
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
0.100 GeneticVariation disease BEFREE Mutations of FoxL2 are associated with the blepharophimosis/ptosis/epicanthus inversus syndrome characterized with craniofacial defects and premature ovarian failure. 19106105 2009
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
0.100 GeneticVariation disease BEFREE FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome. 17277738 2007
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
0.100 GeneticVariation disease BEFREE Mutation analysis of the FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome. 16394030 2006
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
0.100 Biomarker disease BEFREE Premature ovarian failure and forkhead transcription factor FOXL2: blepharophimosis-ptosis-epicanthus inversus syndrome and ovarian dysfunction. 16208278 2005
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
0.100 GeneticVariation disease BEFREE A novel insertion mutation in the FOXL2 gene is detected in a big Chinese family with blepharophimosis-ptosis-epicanthus inversus. 15450400 2004
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
0.100 GeneticVariation disease BEFREE Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle. 12630957 2003
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
0.100 Biomarker disease BEFREE Mutational analysis of forkhead transcriptional factor 2 (FOXL2) in Korean patients with blepharophimosis-ptosis-epicanthus inversus syndrome. 14986827 2003
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
0.100 GeneticVariation disease BEFREE Two families with blepharophimosis/ptosis/epicanthus inversus syndrome have mutations in the putative forkhead transcription factor FOXL2. 11960581 2001