rs121909389, SLC4A11

N. diseases: 2
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 2 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CORNEAL ENDOTHELIAL DYSTROPHY 2
CUI: C1857569
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 2
0.700 GeneticVariation UNIPROT Missense mutation in SLC4A11 in two Pakistani families affected with congenital hereditary endothelial dystrophy (CHED2). 26286922 2016
CORNEAL ENDOTHELIAL DYSTROPHY 2
CUI: C1857569
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 2
0.700 GeneticVariation UNIPROT Oligomerization of SLC4A11 protein and the severity of FECD and CHED2 corneal dystrophies caused by SLC4A11 mutations. 22072594 2012
CORNEAL ENDOTHELIAL DYSTROPHY 2
CUI: C1857569
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 2
0.700 GeneticVariation UNIPROT Congenital hereditary endothelial dystrophy - mutation analysis of SLC4A11 and genotype-phenotype correlation in a North Indian patient cohort. 21203343 2010
CORNEAL ENDOTHELIAL DYSTROPHY 2
CUI: C1857569
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 2
0.700 GeneticVariation UNIPROT Novel human pathological mutations. Gene symbol: SLC4A11. Disease: Corneal endothelial dystrophy 2. 20108384 2010
CORNEAL ENDOTHELIAL DYSTROPHY 2
CUI: C1857569
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 2
0.700 GeneticVariation UNIPROT SLC4A11 prevents osmotic imbalance leading to corneal endothelial dystrophy, deafness, and polyuria. 20185830 2010
CORNEAL ENDOTHELIAL DYSTROPHY 2
CUI: C1857569
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 2
0.700 GeneticVariation UNIPROT Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia. 19369245 2009
CORNEAL ENDOTHELIAL DYSTROPHY 2
CUI: C1857569
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 2
0.700 GeneticVariation UNIPROT Identification of mutations in the SLC4A11 gene in patients with recessive congenital hereditary endothelial dystrophy. 18474783 2008
CORNEAL ENDOTHELIAL DYSTROPHY 2
CUI: C1857569
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 2
0.700 GeneticVariation UNIPROT Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy. 17679935 2007
CORNEAL ENDOTHELIAL DYSTROPHY 2
CUI: C1857569
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 2
0.700 GeneticVariation UNIPROT Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. Online. 17397048 2007
CORNEAL ENDOTHELIAL DYSTROPHY 2
CUI: C1857569
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 2
0.700 GeneticVariation UNIPROT Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy. 17220209 2007
CORNEAL ENDOTHELIAL DYSTROPHY 2
CUI: C1857569
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 2
0.700 GeneticVariation UNIPROT Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11. 16825429 2007
CORNEAL ENDOTHELIAL DYSTROPHY 2
CUI: C1857569
Disease: CORNEAL ENDOTHELIAL DYSTROPHY 2
0.700 GeneticVariation UNIPROT Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2). 16767101 2006