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: rs201284672
rs201284672
Entrez Id: 26503
Gene Symbol: SLC17A5
SLC17A5
CUI: C1096903
Disease:
Sialic Acid Storage Disease, Finnish Type (disorder) 		C 0.700 CausalMutation CLINVAR The early detection of Salla disease through second-tier tests in newborn screening: how to face incidental findings. 24993898 2014
dbSNP: rs201284672
rs201284672
Entrez Id: 26503
Gene Symbol: SLC17A5
SLC17A5
CUI: C1096903
Disease:
Sialic Acid Storage Disease, Finnish Type (disorder) 		C 0.700 CausalMutation CLINVAR Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders. 24767253 2014
dbSNP: rs201284672
rs201284672
Entrez Id: 26503
Gene Symbol: SLC17A5
SLC17A5
CUI: C1096903
Disease:
Sialic Acid Storage Disease, Finnish Type (disorder) 		C 0.700 CausalMutation CLINVAR Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero. 15805149 2005
dbSNP: rs201284672
rs201284672
Entrez Id: 26503
Gene Symbol: SLC17A5
SLC17A5
CUI: C1096903
Disease:
Sialic Acid Storage Disease, Finnish Type (disorder) 		C 0.700 CausalMutation CLINVAR The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation. 10947946 2000