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: rs1554164096
rs1554164096
Entrez Id: 26503
Gene Symbol: SLC17A5
SLC17A5
CUI: C1096903
Disease:
Sialic Acid Storage Disease, Finnish Type (disorder) 		C 0.700 CausalMutation CLINVAR Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation. 23900835 2014