OVOL2, ovo like zinc finger 2, 58495

N. diseases: 58; N. variants: 9
Disease: Corneal dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.030 Biomarker disease BEFREE The so-called autosomal dominant inherited CHED (formerly CHED1) is insufficiently distinct to continue to be considered a unique corneal dystrophy. 25564336 2015
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.030 GeneticVariation disease BEFREE Three genetic corneal dystrophies [congenital hereditary endothelial dystrophy type 2 (CHED2), Harboyan syndrome and Fuchs endothelial corneal dystrophy] arise from mutations of the SLC4a11 gene, which cause blindness from fluid accumulation in the corneal stroma. 23813972 2013
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