SI, sucrase-isomaltase, 6476

N. diseases: 117; N. variants: 15
Disease: Sucrase-isomaltase deficiency, congenital ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs779692980
rs779692980
Entrez Id: 6476
Gene Symbol: SI
SI
CUI: C1283620
Disease:
Sucrase-isomaltase deficiency, congenital 		0.010 GeneticVariation BEFREE The novel compound heterozygote V577G/C1531W SI mutations lead to lack of SI expression in the duodenal brush border, confirming the diagnosis of CSID. 27749612 2017