Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
0.600 GeneticVariation disease BEFREE Investigated were samples of a normal tissue and a tissue with Fuchs' endothelial dystrophy (FECD, cornea Guttata). 30481279 2018
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
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
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
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
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
0.600 Biomarker disease MGD The Col8a2(L450W/L450W) and Col8a2(Q455K/Q455K) mouse models of FECD showed distinct endothelial cell phenotypes. 23422828 2013
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
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
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
0.600 Biomarker disease BEFREE However, linkage, association and familial segregation analyses support a role of only one gene in each corneal endothelial dystrophy: ZEB1 in PPCD3, SLC4A11 in CHED2 and COL8A2 in FECD (early onset). 23662738 2013
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
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
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
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
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
0.600 Biomarker disease MGD This study confirms the Q455K substitution in the COL8A2 gene as being sufficient to cause FECD in the first mouse model of this disease and supports the role of the UPR and UPR-associated apoptosis in the pathogenesis of FECD caused by COL8A2 mutations. 22002996 2012
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
0.600 GeneticVariation disease BEFREE This is the first study analysing COL8A2 gene in Indian patients with FECD. 20144242 2010
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
0.600 GeneticVariation disease BEFREE Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients. 18464802 2009
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
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
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
0.600 GermlineCausalMutation disease ORPHANET Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients. 18464802 2009
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
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
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
0.600 GeneticVariation disease BEFREE Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy. 15914606 2005
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
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
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
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