Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
0.500 Biomarker disease BEFREE E2-2 protein and Fuchs's corneal dystrophy. 20825314 2010
Entrez Id: 5793
Gene Symbol: PTPRG
PTPRG
0.110 GeneticVariation disease GWASCAT E2-2 protein and Fuchs's corneal dystrophy. 20825314 2010
Entrez Id: 83959
Gene Symbol: SLC4A11
SLC4A11
0.400 GermlineCausalMutation disease ORPHANET Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy. 20848555 2010
Entrez Id: 83959
Gene Symbol: SLC4A11
SLC4A11
0.400 GeneticVariation disease BEFREE Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy. 20848555 2010
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
0.500 GeneticVariation disease BEFREE Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus. 21245398 2011
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
0.500 GeneticVariation disease BEFREE In summary, our study presents evidence to support the role of the intronic TCF4 single nucleotide polymorphism rs613872 in late-onset FECD through both association and linkage studies. 21533127 2011
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
0.500 GeneticVariation disease BEFREE Association of TCF4 gene polymorphisms with Fuchs' corneal dystrophy in the Chinese. 21659310 2011
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: 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: 6925
Gene Symbol: TCF4
TCF4
0.500 GeneticVariation disease BEFREE To identify early features of Fuchs endothelial dystrophy (FED) in carriers of the rs613872(G) transcription factor 4 gene (TCF4) aged 20 to 21 years. 22146553 2012
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
0.500 GeneticVariation disease BEFREE Association of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process. 22234156 2012
Entrez Id: 1191
Gene Symbol: CLU
CLU
0.040 GeneticVariation disease BEFREE Association of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process. 22234156 2012
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.040 GeneticVariation disease BEFREE Association of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process. 22234156 2012
Entrez Id: 125336
Gene Symbol: LOXHD1
LOXHD1
0.040 GeneticVariation disease BEFREE Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy. 22341973 2012
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
0.020 Biomarker disease BEFREE Targeting the DJ-1/Nrf2 axis could yield a mechanism to slow CEC degeneration in FECD. 22836768 2012
Entrez Id: 11315
Gene Symbol: PARK7
PARK7
0.010 Biomarker disease BEFREE Under oxidative stress, normal CECs upregulated DJ-1 protein synthesis, whereas FECD CECs did not. 22836768 2012
Entrez Id: 2551
Gene Symbol: GABPA
GABPA
0.010 Biomarker disease BEFREE Decline in DJ-1 and decreased nuclear translocation of Nrf2 in Fuchs endothelial corneal dystrophy. 22836768 2012
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: 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: 1026
Gene Symbol: CDKN1A
CDKN1A
0.010 Biomarker disease BEFREE Our results identify endothelial Cdkn1a (p21) upregulation in a mouse model of early-onset FECD, confirm overexpression of p21 in late-onset human FECD endothelium, and suggest a role for premature senescence in FECD. 22956607 2012
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
0.500 GeneticVariation disease BEFREE Prior reports have shown that SNP rs613872 in the TCF4 gene is highly associated with FECD. 22998502 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: 6925
Gene Symbol: TCF4
TCF4
0.500 GeneticVariation disease BEFREE Thus, common variants in TCF4 appear to influence FECD directly, and CCT secondarily via FECD. 23110055 2012
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
0.020 GeneticVariation disease BEFREE Other genes previously associated with FECD (PITX2, ZEB1, SLC4A11), and genes only known to affect CCT (COL5A1, FOXO1, AVGR8, ZNF469) were also interrogated. 23110055 2012
Entrez Id: 84627
Gene Symbol: ZNF469
ZNF469
0.010 GeneticVariation disease BEFREE Other genes previously associated with FECD (PITX2, ZEB1, SLC4A11), and genes only known to affect CCT (COL5A1, FOXO1, AVGR8, ZNF469) were also interrogated. 23110055 2012