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: rs386833993
rs386833993
Entrez Id: 26503
Gene Symbol: SLC17A5
SLC17A5
CUI: C1096903
Disease:
Sialic Acid Storage Disease, Finnish Type (disorder) 		T 0.700 CausalMutation CLINVAR The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation. 10947946 2000
dbSNP: rs386833993
rs386833993
Entrez Id: 26503
Gene Symbol: SLC17A5
SLC17A5
CUI: C1096903
Disease:
Sialic Acid Storage Disease, Finnish Type (disorder) 		T 0.700 GeneticVariation CLINVAR The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation. 10947946 2000