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 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 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 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 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 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 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 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 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 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 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
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 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 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: 1351
Gene Symbol: COX8A
COX8A
0.010 Biomarker disease BEFREE Collagen VIII mutations, which clinically result in Fuchs' dystrophy, are associated with abnormal cellular accumulation of collagen VIII. 22020132 2011
Entrez Id: 1400
Gene Symbol: CRMP1
CRMP1
0.010 Biomarker disease BEFREE Immunoblotting of FECD ex vivo specimens revealed an accumulation of PINK1 and phospho-Parkin (Ser65) along with loss of total Parkin and total Drp1. 31361992 2019
Entrez Id: 8452
Gene Symbol: CUL3
CUL3
0.010 Biomarker disease BEFREE Immunoprecipitation was used to detect levels of oxidized DJ-1 protein and Cullin 3- (Cul3)-regulated degradation of DJ-1 in immortalized FECD (FECDi) and normal CEC (HCECi) cell lines. 22836768 2012
Entrez Id: 23604
Gene Symbol: DAPK2
DAPK2
0.010 Biomarker disease BEFREE Immunoblotting of FECD ex vivo specimens revealed an accumulation of PINK1 and phospho-Parkin (Ser65) along with loss of total Parkin and total Drp1. 31361992 2019
Entrez Id: 8562
Gene Symbol: DENR
DENR
0.010 Biomarker disease BEFREE Immunoblotting of FECD ex vivo specimens revealed an accumulation of PINK1 and phospho-Parkin (Ser65) along with loss of total Parkin and total Drp1. 31361992 2019
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
0.010 Biomarker disease BEFREE Correspondingly, DICER1, (encoding an endoribonuclease critical to miRNA biogenesis) showed a moderate but significant decrease in FECD samples (P < 0.05). 24334445 2014
Entrez Id: 1760
Gene Symbol: DMPK
DMPK
0.020 GeneticVariation disease BEFREE We genotyped TCF4 and DMPK repeat polymorphisms in a FECD cohort of 317 probands using short-tandem repeat and triplet repeat-primed PCR assays. 28886202 2017
Entrez Id: 1760
Gene Symbol: DMPK
DMPK
0.020 Biomarker disease BEFREE Neither severity of DM1 nor DMPK TNR length predicted the presence of FECD in DM1 patients. 30025114 2018
Entrez Id: 2039
Gene Symbol: DMTN
DMTN
0.010 GeneticVariation disease BEFREE A patient with FECD was successfully treated with DMT. 29384808 2018
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L
0.010 Biomarker disease BEFREE Immunoblotting of FECD ex vivo specimens revealed an accumulation of PINK1 and phospho-Parkin (Ser65) along with loss of total Parkin and total Drp1. 31361992 2019