COL8A2, collagen type VIII alpha 2 chain, 1296

N. diseases: 35; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1850959
Disease: Corneal dystrophy, Fuchs' endothelial, 1
Corneal dystrophy, Fuchs' endothelial, 1 		0.720 GeneticVariation disease BEFREE Due to abnormalities in ECM protein composition and structure in FECD, the stiffness of DM in Col8a2 knock-in mice and wildtype (WT) controls was measured using atomic force microscopy at 5 and 10 months of age, coinciding with the onset of FECD phenotypic abnormalities. 30471280 2019
CUI: C1850959
Disease: Corneal dystrophy, Fuchs' endothelial, 1
Corneal dystrophy, Fuchs' endothelial, 1 		0.720 GeneticVariation disease BEFREE To investigate the endothelial gene expression profile in a Col8a2 Q455K mutant knock-in mouse model of early-onset Fuchs' endothelial corneal dystrophy (FECD) and identify potential targets that can be correlated to human late-onset FECD. 23449721 2013
CUI: C1850959
Disease: Corneal dystrophy, Fuchs' endothelial, 1
Corneal dystrophy, Fuchs' endothelial, 1 		0.720 GeneticVariation disease UNIPROT Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. 11689488 2001
CUI: C1852795
Disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2 		0.700 GeneticVariation disease UNIPROT Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. 11689488 2001
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		0.600 GeneticVariation disease BEFREE Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients. 18464802 2009
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		0.600 GeneticVariation disease BEFREE Biosynthetic and functional defects in newly identified SLC4A11 mutants and absence of COL8A2 mutations in Fuchs endothelial corneal dystrophy. 25007886 2014
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		0.600 GeneticVariation disease BEFREE This is the first study analysing COL8A2 gene in Indian patients with FECD. 20144242 2010
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		0.600 GeneticVariation disease BEFREE Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy. 15914606 2005
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		0.600 GeneticVariation disease BEFREE To characterize histologically Descemet's membrane in an early-onset Fuchs corneal dystrophy (FCD) COL8A2 mutant and compare these findings with corneas from late-onset FCD and normal corneas. 16303941 2005
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		0.600 GeneticVariation disease BEFREE The present study used a transgenic Col8a2(Q455K/Q455K) knock-in mouse model of early-onset FECD to identify the endothelial expression profile of specific cellular stress response-related targets, which may be relevant to late-onset FECD. 22956607 2012
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		0.600 GeneticVariation disease BEFREE The coding regions of known FECD susceptibility genes collagen, type VIII, alpha 2 (COL8A2); solute carrier family 4, sodium borate transporter, member 11 (SLC4A11); and zinc finger E-box binding homeobox 1 (ZEB1 [also known as TCF8]) were Sanger sequenced in the 47 probands using DNA isolated from blood samples. 24348007 2013
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		0.600 GeneticVariation disease BEFREE To understand the relationship between FECD and central corneal thickness (CCT), we characterized common genetic variation in COL8A2 and TCF4, genes previously implicated in CCT and/or FECD. 23110055 2012
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		0.600 GeneticVariation disease BEFREE To perform a genome-wide linkage screen with a single-nucleotide polymorphism (SNP) linkage panel to identify regions of genetic linkage in Fuchs endothelial corneal dystrophy (FECD) and to analyze affected individuals for mutations in the COL8A2 gene. 18502986 2009
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		0.600 GeneticVariation disease BEFREE Investigated were samples of a normal tissue and a tissue with Fuchs' endothelial dystrophy (FECD, cornea Guttata). 30481279 2018
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		0.600 GeneticVariation disease BEFREE The R155Q and T502M mutations of COL8A2 may not be the causative defect in the Japanese FECD and PPMD patients examined in this study. 15175909 2004
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		0.600 GeneticVariation disease BEFREE While the early onset, and rarer, form of FECD has been linked to COL8A2 mutations, the more common, late onset form of FECD has genetic mutations linked to only a minority of cases. 28384203 2017
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		0.600 GeneticVariation disease BEFREE The absence of pathogenic mutations identified in the COL8A1 or COL8A2 genes in affected members of 15 pedigrees with familial FECD indicates that other genetic factors are involved in the development of this autosomal dominant corneal dystrophy. 16936088 2006
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy 		0.340 GeneticVariation disease BEFREE The initial 3 genes chosen, ID1, BCL2L1, and VSX1, lie within the region on chromosome 20 to which the PPCD gene has been linked, and mutations in VSX1 have previously been identified in patients with PPCD. 15725882 2005
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy 		0.340 GeneticVariation disease BEFREE We mapped a new locus responsible for PPCD in a family in which we excluded the previously reported PPCD locus on 20q11, and the region containing COL8A2 on chromosome 1. 15384081 2004
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy 		0.340 GeneticVariation disease BEFREE No pathogenic mutations were identified in the COL8A2 gene or in several positional candidate genes in a series of patients with PPCD, indicating that other genetic factors are involved in the development of this autosomal dominant corneal dystrophy. 15851557 2005
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.150 GeneticVariation disease BEFREE The absence of pathogenic mutations identified in the COL8A1 or COL8A2 genes in affected members of 15 pedigrees with familial FECD indicates that other genetic factors are involved in the development of this autosomal dominant corneal dystrophy. 16936088 2006
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.150 GeneticVariation disease BEFREE Distinct Clinical Phenotype of Corneal Dystrophy Predicts the p.(Leu450Trp) Substitution in COL8A2. 26989952 2016
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.150 GeneticVariation disease BEFREE No pathogenic mutations were identified in the COL8A2 gene or in several positional candidate genes in a series of patients with PPCD, indicating that other genetic factors are involved in the development of this autosomal dominant corneal dystrophy. 15851557 2005
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.150 GeneticVariation disease BEFREE To determine whether Japanese patients with Fuchs' endothelial corneal dystrophy (FECD) and posterior polymorphous dystrophy (PPMD) carry mutations in the COL8A2 gene, and to investigate the possible pathogenicity of the COL8A2 gene in these corneal dystrophies. 15175909 2004
CUI: C0040420
Disease: Tonometry
Tonometry 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association analyses identify new loci influencing intraocular pressure. 29617998 2018