Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2 		1.000 GeneticVariation disease CLINVAR
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2 		1.000 CausalMutation disease CLINVAR
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2 		1.000 Biomarker disease CTD_human
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2 		1.000 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2 		1.000 GeneticVariation disease BEFREE Blepharophimosis syndrome (BPES, blepharophimosis eyelid syndrome) is a distinctive congenital eyelid malformation which can occur sporadically or be inherited in an autosomal dominant fashion. 7795600 1995
Entrez Id: 3973
Gene Symbol: LHCGR
LHCGR 		0.010 Biomarker disease BEFREE Hypergonadotropic hypogonadism in a 3-year-old girl with blepharophimosis, ptosis, and epicanthus inversus syndrome. 9762009 1998
Entrez Id: 57057
Gene Symbol: TBX20
TBX20 		0.010 Biomarker disease BEFREE An association between TBX20 and loci for retinitis pigmentosa, RP9, and blepharophimosis syndrome, BPES, have been excluded. 10936053 2000
Entrez Id: 60467
Gene Symbol: BPESC1
BPESC1 		0.010 Biomarker disease BEFREE These data make it unlikely that BPESC1 plays a major role in the pathogenesis of BPES. 10995571 2000
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2 		1.000 GeneticVariation disease UNIPROT The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. 11175783 2001
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2 		1.000 GeneticVariation disease UNIPROT In this study, we describe the identification of novel mutations in the FOXL2 gene in BPES types I and II families, in sporadic BPES patients, and in BPES families where the type could not be established. 11468277 2001
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2 		1.000 GeneticVariation disease BEFREE A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine tract in the development of the ovary and the eyelid. 11910558 2002
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2 		1.000 GeneticVariation disease UNIPROT Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families. 12400065 2002
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2 		1.000 GeneticVariation disease UNIPROT Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients. 12938087 2003
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2 		1.000 GeneticVariation disease BEFREE Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients. 12938087 2003
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2 		1.000 Biomarker disease GENOMICS_ENGLAND FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. 12529855 2003
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2 		1.000 GeneticVariation disease UNIPROT FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. 12529855 2003
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2 		1.000 Biomarker disease BEFREE FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. 12529855 2003
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2 		1.000 GeneticVariation disease UNIPROT 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 		1.000 Biomarker disease MGD The murine winged-helix transcription factor Foxl2 is required for granulosa cell differentiation and ovary maintenance. 14736745 2004
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2 		1.000 Biomarker disease MGD Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development. 15056605 2004
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease UNIPROT Genetic analysis of a five generation Indian family with BPES: a novel missense mutation (p.Y215C). 15257268 2004
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2 		1.000 Biomarker disease BEFREE Here, we identified novel microdeletions outside of FOXL2 in cases of sporadic and familial BPES. 15962237 2005
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2 		1.000 GeneticVariation disease UNIPROT Three novel FOXL2 gene mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome. 16454982 2006
Entrez Id: 668
Gene Symbol: FOXL2
FOXL2 		1.000 GeneticVariation disease UNIPROT Mutations in the FOXL2 gene, encoding a forkhead transcription factor, are responsible for both types of BPES. 17089161 2007