Source: ALL
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 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 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 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 FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome. 17277738 2007
Entrez Id: 1144
Gene Symbol: CHRND
CHRND 		0.100 Biomarker disease HPO
Entrez Id: 54187
Gene Symbol: NANS
NANS 		0.100 Biomarker disease HPO
Entrez Id: 168667
Gene Symbol: BMPER
BMPER 		0.100 Biomarker disease HPO
Entrez Id: 6234
Gene Symbol: RPS28
RPS28 		0.100 Biomarker disease HPO
Entrez Id: 84342
Gene Symbol: COG8
COG8 		0.100 Biomarker disease HPO
Entrez Id: 57539
Gene Symbol: WDR35
WDR35 		0.100 Biomarker disease HPO
Entrez Id: 7737
Gene Symbol: RNF113A
RNF113A 		0.100 Biomarker disease HPO
Entrez Id: 10586
Gene Symbol: MAB21L2
MAB21L2 		0.100 Biomarker disease HPO
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 6497
Gene Symbol: SKI
SKI 		0.100 Biomarker disease HPO
Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3 		0.100 Biomarker disease HPO
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.100 Biomarker disease HPO
Entrez Id: 23556
Gene Symbol: PIGN
PIGN 		0.100 Biomarker disease HPO
Entrez Id: 9841
Gene Symbol: ZBTB24
ZBTB24 		0.100 Biomarker disease HPO
Entrez Id: 161742
Gene Symbol: SPRED1
SPRED1 		0.100 Biomarker disease HPO
Entrez Id: 226
Gene Symbol: ALDOA
ALDOA 		0.100 Biomarker disease HPO
Entrez Id: 55764
Gene Symbol: IFT122
IFT122 		0.100 Biomarker disease HPO
Entrez Id: 9509
Gene Symbol: ADAMTS2
ADAMTS2 		0.100 Biomarker disease HPO
Entrez Id: 3090
Gene Symbol: HIC1
HIC1 		0.100 Biomarker disease HPO
Entrez Id: 1663
Gene Symbol: DDX11
DDX11 		0.100 Biomarker disease HPO
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		0.100 Biomarker disease HPO