SLC17A5, solute carrier family 17 member 5, 26503

N. diseases: 252; N. variants: 47
Disease: Infantile Sialic Acid Storage Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794729653
rs794729653
Entrez Id: 26503
Gene Symbol: SLC17A5
SLC17A5
CUI: C1096902
Disease:
Infantile Sialic Acid Storage Disease 		A 0.700 GeneticVariation CLINVAR Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero. 15805149 2005
dbSNP: rs794729653
rs794729653
Entrez Id: 26503
Gene Symbol: SLC17A5
SLC17A5
CUI: C1096902
Disease:
Infantile Sialic Acid Storage Disease 		A 0.700 GeneticVariation CLINVAR A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases. 10581036 1999