SI, sucrase-isomaltase, 6476

N. diseases: 117; N. variants: 15
Disease: Generalized glycogen storage disease of infants ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs551975446
rs551975446
Entrez Id: 6476
Gene Symbol: SI
SI
CUI: C0342751
Disease:
Generalized glycogen storage disease of infants 		0.010 GeneticVariation BEFREE A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII). 7981676 1994