SI, sucrase-isomaltase, 6476

N. diseases: 117; N. variants: 15
Disease: Hypertrophic obstructive cardiomyopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		0.010 Biomarker disease BEFREE Glycogen storage disease type II (GSDII) or Pompe disease is an autosomal recessive disorder caused by defects in the acid alpha-glucosidase gene, which leads to lysosomal glycogen accumulation and enlargement of the lysosomes mainly in cardiac and muscle tissues, resulting in fatal hypertrophic cardiomyopathy and respiratory failure in the most severely affected patients. 18782850 2008