Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 83959
Gene Symbol: SLC4A11
SLC4A11
0.400 GeneticVariation disease BEFREE SLC4A11 is a membrane transport protein (OH<sup>-</sup> /H<sup>+</sup> /NH<sub>3</sub> /H<sub>2</sub> O) of basolateral corneal endothelium, whose mutations cause some cases of congenital hereditary endothelial dystrophy and Fuchs endothelial corneal dystrophy. 27925686 2017
Entrez Id: 83959
Gene Symbol: SLC4A11
SLC4A11
0.400 GeneticVariation disease BEFREE Heterozygous mutations in the SLC4A11 gene are also known to cause late-onset FECD. 20144242 2010
Entrez Id: 83959
Gene Symbol: SLC4A11
SLC4A11
0.400 GeneticVariation disease BEFREE Fuchs Endothelial Corneal Dystrophy in a Heterozygous Carrier of Congenital Hereditary Endothelial Dystrophy Type 2 with a Novel Mutation in SLC4A11. 24502824 2015
Entrez Id: 83959
Gene Symbol: SLC4A11
SLC4A11
0.400 GeneticVariation disease BEFREE Mutations in SLC4A11, a Na<sup>+</sup> dependent OH<sup>-</sup> transporter, cause congenital hereditary endothelial dystrophy (CHED) and Fuchs' endothelial corneal dystrophy (FECD), the two most common forms of endothelial degeneration. 28642546 2017
Entrez Id: 83959
Gene Symbol: SLC4A11
SLC4A11
0.400 GeneticVariation disease BEFREE Mutations of SLC4A11 cause some cases of the blinding corneal dystrophies, congenital hereditary endothelial dystrophy, and Fuchs endothelial corneal dystrophy. 27558157 2016
Entrez Id: 83959
Gene Symbol: SLC4A11
SLC4A11
0.400 GeneticVariation disease BEFREE Variation in the COL8A2, SLC4A11, and ZEB1 genes is present in only a small fraction of our African American cases and as such does not appear to significantly contribute to the genetic risk of FECD in African Americans. 24348007 2013
Entrez Id: 83959
Gene Symbol: SLC4A11
SLC4A11
0.400 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: 83959
Gene Symbol: SLC4A11
SLC4A11
0.400 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
Entrez Id: 83959
Gene Symbol: SLC4A11
SLC4A11
0.400 GeneticVariation disease BEFREE In addition, adult-onset Fuchs endothelial corneal dystrophy (FECD) is associated with dominant mutations in SLC4A11. 24351571 2014
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: 83959
Gene Symbol: SLC4A11
SLC4A11
0.400 GeneticVariation disease BEFREE SLC4A11 mutations are associated with Fuchs' endothelial corneal dystrophy (FECD), congenital hereditary endothelial dystrophy (CHED) and Harboyan syndrome (endothelial dystrophy with auditory deficiency). 30557570 2019
Entrez Id: 83959
Gene Symbol: SLC4A11
SLC4A11
0.400 GeneticVariation disease BEFREE SLC4A11 mutations cause cases of congenital hereditary endothelial dystrophy (CHED), Harboyan syndrome (HS), and Fuchs endothelial corneal dystrophy (FECD). 29327391 2018
Entrez Id: 83959
Gene Symbol: SLC4A11
SLC4A11
0.400 GeneticVariation disease BEFREE HEK293 cells expressing CHED and FECD-causing SLC4A11 mutants were grown on 96-well dishes in the absence or presence of NSAIDs. 30140924 2018
Entrez Id: 83959
Gene Symbol: SLC4A11
SLC4A11
0.400 GeneticVariation disease BEFREE Heterozygosity for SLC4A11 mutations in the parents of children with autosomal recessive CHED appears to be a risk factor for the development of FECD in these cases. 31714402 2020
Entrez Id: 123624
Gene Symbol: AGBL1
AGBL1
0.320 GeneticVariation disease BEFREE Marker alleles of the tested SNVs in SLC4A11, LOXHD1, and rs185919705 in AGBL1 were not found in our FECD cohort. 30267097 2018
Entrez Id: 123624
Gene Symbol: AGBL1
AGBL1
0.320 GeneticVariation disease BEFREE Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4. 24094747 2013
Entrez Id: 5793
Gene Symbol: PTPRG
PTPRG
0.110 GeneticVariation disease BEFREE Association of common variants in TCF4 and PTPRG with Fuchs' corneal dystrophy: a systematic review and meta-analysis. 25299301 2014
Entrez Id: 5793
Gene Symbol: PTPRG
PTPRG
0.110 GeneticVariation disease GWASCAT E2-2 protein and Fuchs's corneal dystrophy. 20825314 2010
Entrez Id: 3075
Gene Symbol: CFH
CFH
0.100 GeneticVariation disease GWASCAT Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy. 28358029 2017
Entrez Id: 347862
Gene Symbol: GATD1
GATD1
0.100 GeneticVariation disease GWASCAT Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy. 28358029 2017
Entrez Id: 163782
Gene Symbol: KANK4
KANK4
0.100 GeneticVariation disease GWASCAT Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy. 28358029 2017
Entrez Id: 3915
Gene Symbol: LAMC1
LAMC1
0.100 GeneticVariation disease GWASCAT Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy. 28358029 2017
Entrez Id: 125336
Gene Symbol: LOXHD1
LOXHD1
0.040 GeneticVariation disease BEFREE In the experimental study, coding regions of ZEB1 and LOXHD1 were screened by Sanger DNA sequencing in 52 late-onset and 5 early-onset FECD cases of Indian origin, recruited at a tertiary eye care center. 29799290 2018
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: 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