Gene: FOXL2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906920
rs387906920
FOXL2 ; FOXL2NB
0.800 GeneticVariation UNIPROT Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle. 12630957

2003
dbSNP: rs387906920
rs387906920
FOXL2 ; FOXL2NB
0.800 GeneticVariation UNIPROT Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families. 12400065

2002
dbSNP: rs387906920
rs387906920
FOXL2 ; FOXL2NB
0.800 GeneticVariation UNIPROT Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation. 11468277

2001
dbSNP: rs387906920
rs387906920
FOXL2 ; FOXL2NB
0.800 GeneticVariation UNIPROT The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. 11175783

2001
dbSNP: rs387906920
rs387906920
FOXL2 ; FOXL2NB
0.800 GeneticVariation UNIPROT Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation. 18372316

2008
dbSNP: rs387906920
rs387906920
FOXL2 ; FOXL2NB
0.800 GeneticVariation UNIPROT Genetic analysis of a five generation Indian family with BPES: a novel missense mutation (p.Y215C). 15257268

2004
dbSNP: rs387906920
rs387906920
FOXL2 ; FOXL2NB
0.800 GeneticVariation UNIPROT Three novel FOXL2 gene mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome. 16454982

2006
dbSNP: rs387906920
rs387906920
FOXL2 ; FOXL2NB
0.800 GeneticVariation UNIPROT FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. 12529855

2003
dbSNP: rs387906920
rs387906920
FOXL2 ; FOXL2NB
0.800 GeneticVariation UNIPROT Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome. 18642388

2008
dbSNP: rs387906920
rs387906920
FOXL2 ; FOXL2NB
0.800 GeneticVariation UNIPROT A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction. 17089161

2007
dbSNP: rs387906920
rs387906920
FOXL2 ; FOXL2NB
0.800 GeneticVariation UNIPROT Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients. 12938087

2003
dbSNP: rs387906920
rs387906920
FOXL2 ; FOXL2NB
0.800 GeneticVariation UNIPROT Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients. 18484667

2008
dbSNP: rs797044527
rs797044527
FOXL2 ; FOXL2NB
0.800 GeneticVariation UNIPROT

dbSNP: rs1057516168
rs1057516168
FOXL2 ; FOXL2NB
0.710 GeneticVariation BEFREE DNA sequence analysis showed that the BPES phenotype in this family was caused by a novel missense mutation, c.881A->G (p.Y215C). 15257268

2004
dbSNP: rs28937884
rs28937884
FOXL2 ; FOXL2NB
0.700 GeneticVariation UNIPROT

dbSNP: rs529612732
rs529612732
FOXL2 ; FOXL2NB
0.010 GeneticVariation BEFREE A multi-mutation of FOXL2, consisting of the expansion of the polyalanine tract from 14 to 24 residues (FOXL2-Ala24), an novel Y186C substitution from c.557A>G, and a synonymous variant (c.505G>A), had a cumulative effect on ovarian phenotypes in BPES patients. 22926839

2012
dbSNP: rs387906920
rs387906920
FOXL2 ; FOXL2NB
A 0.800 CausalMutation CLINVAR

dbSNP: rs797044527
rs797044527
FOXL2 ; FOXL2NB
A 0.800 CausalMutation CLINVAR

dbSNP: rs797044527
rs797044527
FOXL2 ; FOXL2NB
A 0.800 GeneticVariation CLINVAR

dbSNP: rs104893739
rs104893739
FOXL2 ; FOXL2NB
A 0.700 CausalMutation CLINVAR

dbSNP: rs104893741
rs104893741
FOXL2 ; FOXL2NB
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057516140
rs1057516140
FOXL2 ; FOXL2NB
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057516156
rs1057516156
FOXL2 ; FOXL2NB
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060499717
rs1060499717
FOXL2 ; FOXL2NB
A 0.700 CausalMutation CLINVAR

dbSNP: rs1559922013
rs1559922013
FOXL2 ; FOXL2NB ; LINC01391
A 0.700 CausalMutation CLINVAR