SLC4A11, solute carrier family 4 member 11, 83959

N. diseases: 42; N. variants: 44
Disease: CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909394
rs121909394
Entrez Id: 83959
Gene Symbol: SLC4A11
SLC4A11
CUI: C1857572
Disease:
CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS 		0.800 GeneticVariation UNIPROT Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy. 17220209 2007
dbSNP: rs121909394
rs121909394
Entrez Id: 83959
Gene Symbol: SLC4A11
SLC4A11
CUI: C1857572
Disease:
CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS 		G 0.800 CausalMutation CLINVAR