SI, sucrase-isomaltase, 6476

N. diseases: 117; N. variants: 15
Disease: Glycogen storage disease due to acid maltase deficiency, infantile onset ×
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C3888924
Disease: Glycogen storage disease due to acid maltase deficiency, infantile onset
Glycogen storage disease due to acid maltase deficiency, infantile onset 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 7 6 0.080 None 1.000 8 1 2010 2019