Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906920
rs387906920
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		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
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		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
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		0.800 GeneticVariation UNIPROT Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients. 18484667

2008
dbSNP: rs387906920
rs387906920
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		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
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		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
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		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
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		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
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		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
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		0.800 GeneticVariation UNIPROT Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients. 12938087

2003
dbSNP: rs387906920
rs387906920
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		0.800 GeneticVariation UNIPROT Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families. 12400065

2002
dbSNP: rs387906920
rs387906920
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		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
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		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
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		A 0.800 CausalMutation CLINVAR

dbSNP: rs797044527
rs797044527
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		A 0.800 CausalMutation CLINVAR

dbSNP: rs797044527
rs797044527
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		A 0.800 GeneticVariation CLINVAR

dbSNP: rs797044527
rs797044527
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		0.800 GeneticVariation UNIPROT

dbSNP: rs1057516168
rs1057516168
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		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: rs1057516168
rs1057516168
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		C 0.710 CausalMutation CLINVAR

dbSNP: rs104893739
rs104893739
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs104893741
rs104893741
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057516139
rs1057516139
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057516140
rs1057516140
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057516141
rs1057516141
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1057516142
rs1057516142
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516142
rs1057516142
FOXL2 ; FOXL2NB
CUI: C0220663
Disease: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder) 		T 0.700 CausalMutation CLINVAR