SLC17A5, solute carrier family 17 member 5, 26503

N. diseases: 252; N. variants: 47
Disease: Sialic Acid Storage Disease, Finnish Type (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833992
rs386833992
Entrez Id: 26503
Gene Symbol: SLC17A5
SLC17A5
CUI: C1096903
Disease:
Sialic Acid Storage Disease, Finnish Type (disorder) 		G 0.700 CausalMutation CLINVAR Prenatal diagnosis of free sialic acid storage disorders (SASD). 16715535 2006
dbSNP: rs386833992
rs386833992
Entrez Id: 26503
Gene Symbol: SLC17A5
SLC17A5
CUI: C1096903
Disease:
Sialic Acid Storage Disease, Finnish Type (disorder) 		G 0.700 GeneticVariation CLINVAR Prenatal diagnosis of free sialic acid storage disorders (SASD). 16715535 2006
dbSNP: rs386833992
rs386833992
Entrez Id: 26503
Gene Symbol: SLC17A5
SLC17A5
CUI: C1096903
Disease:
Sialic Acid Storage Disease, Finnish Type (disorder) 		G 0.700 CausalMutation CLINVAR A case of Salla disease with involvement of the cerebellar white matter. 12592494 2003