SI, sucrase-isomaltase, 6476

N. diseases: 117; N. variants: 15
Disease: Storage disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0267971
Disease: Storage disease
Storage disease 		0.010 AlteredExpression group BEFREE Pompe disease is an extra-rare metabolic storage disease with deficiency of acid-alpha-glucosidase (GAA) enzyme activity, which leads to the pathologic accumulation of glycogen in target tissues (skeletal muscles, heart, brain). 28925476 2017