SI, sucrase-isomaltase, 6476

N. diseases: 117; N. variants: 15
Disease: Glycogen storage disease due to acid maltase deficiency, infantile onset ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1465957886
rs1465957886
Entrez Id: 6476
Gene Symbol: SI
SI
CUI: C3888924
Disease:
Glycogen storage disease due to acid maltase deficiency, infantile onset 		0.010 GeneticVariation BEFREE It is concluded that the novel sequence variant c.1211A>G results in full CRIM but significantly lower GAA activity, which in combination with c.1798C>T leads to infantile-onset Pompe disease. 24384324 2014