Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Free sialic acid storage disease
CUI: C2931872
Disease: Free sialic acid storage disease
0.010 GeneticVariation BEFREE Two disease-associated missense mutations in the sialin gene (G328E and G409E) have recently been identified in patients with lysosomal free sialic acid storage disease. 17933575 2007