OVOL2, ovo like zinc finger 2, 58495

N. diseases: 58; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1852555
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT
CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT 		0.670 CausalMutation disease CLINVAR
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy 		0.500 Biomarker disease HPO
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.100 Biomarker disease HPO
CUI: C0085636
Disease: Photophobia
Photophobia 		0.100 Biomarker phenotype HPO
CUI: C0152227
Disease: Excessive tearing
Excessive tearing 		0.100 Biomarker disease HPO
CUI: C0152252
Disease: Anterior synechiae
Anterior synechiae 		0.100 Biomarker disease HPO
CUI: C0155120
Disease: Corneal Dystrophy, Band-Shaped
Corneal Dystrophy, Band-Shaped 		0.100 Biomarker disease HPO
CUI: C0423325
Disease: Ectropion uveae
Ectropion uveae 		0.100 Biomarker disease HPO
CUI: C1562689
Disease: Congenital hereditary endothelial dystrophy
Congenital hereditary endothelial dystrophy 		0.360 GeneticVariation disease BEFREE Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping. 10512674 1999
CUI: C1852555
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT
CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT 		0.670 GeneticVariation disease BEFREE Multiple relatives were affected with PPMD with apparent autosomal dominant inheritance, but surprisingly, the PPMD, congenital hereditary endothelial dystrophy 1 (CHED1) and CHED2 loci on chromosome 20 and the collagen, type VIII, alpha-2 (COL8A2) gene were excluded by linkage and haplotype analyses. 12654361 2003
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy 		0.500 GeneticVariation disease BEFREE Multiple relatives were affected with PPMD with apparent autosomal dominant inheritance, but surprisingly, the PPMD, congenital hereditary endothelial dystrophy 1 (CHED1) and CHED2 loci on chromosome 20 and the collagen, type VIII, alpha-2 (COL8A2) gene were excluded by linkage and haplotype analyses. 12654361 2003
CUI: C1562689
Disease: Congenital hereditary endothelial dystrophy
Congenital hereditary endothelial dystrophy 		0.360 GeneticVariation disease BEFREE Multiple relatives were affected with PPMD with apparent autosomal dominant inheritance, but surprisingly, the PPMD, congenital hereditary endothelial dystrophy 1 (CHED1) and CHED2 loci on chromosome 20 and the collagen, type VIII, alpha-2 (COL8A2) gene were excluded by linkage and haplotype analyses. 12654361 2003
CUI: C1562689
Disease: Congenital hereditary endothelial dystrophy
Congenital hereditary endothelial dystrophy 		0.360 GeneticVariation disease BEFREE Autosomal recessive congenital hereditary endothelial dystrophy (AR-CHED or CHED2) is a bilateral corneal disorder manifesting at birth or in early childhood. 17679935 2007
CUI: C1857572
Disease: CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS
CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS 		0.030 Biomarker disease BEFREE A genotype study on six families with CDPD and on one family with either CHED or CDPD, from various ethnic backgrounds (in the seventh family, hearing loss could not be assessed because of the proband's young age), is reported here. 17220209 2007
CUI: C1857569
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 2
CORNEAL ENDOTHELIAL DYSTROPHY 2 		0.020 GeneticVariation disease BEFREE Members of 16 families with autosomal recessive CHED were genotyped for 13 microsatellite markers at the CHED2 locus on chromosome 20p13-12. 16825429 2007
CUI: C0010034
Disease: Corneal Diseases
Corneal Diseases 		0.010 Biomarker group BEFREE Autosomal recessive congenital hereditary endothelial dystrophy (AR-CHED or CHED2) is a bilateral corneal disorder manifesting at birth or in early childhood. 17679935 2007
CUI: C0544008
Disease: Chandler syndrome
Chandler syndrome 		0.010 GeneticVariation disease BEFREE Members of 16 families with autosomal recessive CHED were genotyped for 13 microsatellite markers at the CHED2 locus on chromosome 20p13-12. 16825429 2007
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy 		0.500 GeneticVariation disease BEFREE We provide evidence for genetic heterogeneity of chromosome 20-related PPCD and refinement of the original PPCD1 interval. 18253095 2008
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy 		0.500 GeneticVariation disease BEFREE We sought to identify the genetic basis of PPCD linked to chromosome 20 (PPCD1) by screening the 26 positional candidate genes between these markers in a family previously mapped to the PPCD1 region. 19574904 2009
CUI: C1562689
Disease: Congenital hereditary endothelial dystrophy
Congenital hereditary endothelial dystrophy 		0.360 GeneticVariation disease BEFREE Nine other genes positioned just outside of the common PPCD1 support interval but within the autosomal-dominant congenital hereditary endothelial dystrophy interval were also screened. 19574904 2009
CUI: C1852555
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT
CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT 		0.670 GeneticVariation disease BEFREE We have termed this the "mouse PPCD1" phenotype and mapped the mouse locus for this phenotype, designated "Ppcd1", to a 6.1 Mbp interval on Chromosome 2, which is syntenic to the human Chromosome 20 PPCD1 interval. 20808945 2010
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy 		0.500 Biomarker disease BEFREE The PPCD1 mouse: characterization of a mouse model for posterior polymorphous corneal dystrophy and identification of a candidate gene. 20808945 2010
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.030 GeneticVariation disease BEFREE Oligomerization of SLC4A11 protein and the severity of FECD and CHED2 corneal dystrophies caused by SLC4A11 mutations. 22072594 2012
CUI: C1857572
Disease: CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS
CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS 		0.030 GeneticVariation disease BEFREE Mutations in the SLC4A11 gene, which encodes a plasma membrane borate transporter, cause recessive congenital hereditary endothelial corneal dystrophy type 2 (CHED2), corneal dystrophy and perceptive deafness (Harboyan syndrome), and dominant late-onset Fuchs endothelial corneal dystrophy (FECD). 22072594 2012
CUI: C1857800
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 2
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 2 		0.010 AlteredExpression disease BEFREE When expressed alone, FECD- and CHED2-causing mutant SLC4A11 proteins are primarily retained intracellularly. 22072594 2012