Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.200 GeneticVariation 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
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.200 GeneticVariation 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
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.200 GeneticVariation 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
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.200 GeneticVariation BEFREE Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome. 26323275

2015

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.200 GeneticVariation 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
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.200 GeneticVariation 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
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.200 GeneticVariation 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
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.200 GeneticVariation BEFREE Identification of a novel mutation in FOXL2 gene that leads to blepharophimosis ptosis epicanthus inversus and telecanthus syndrome in a Tunisian consanguineous family. 19929410

2010

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.200 GeneticVariation 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
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.200 GeneticVariation 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
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.200 GeneticVariation BEFREE FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome. 17277738

2007

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.200 GeneticVariation 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
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.200 GeneticVariation BEFREE We conclude that the FOXL2 mutation 904_939dup36 may account not only for blepharophimosis and ptosis but also for ovarian dysfunction and growth of the large corpus luteum cyst. 16131596

2005

Entrez Id: 668
Gene Symbol: FOXL2
FOXL2
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.200 Biomarker 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
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.200 GeneticVariation 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
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.200 Biomarker 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
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.200 Biomarker HPO