SI, sucrase-isomaltase, 6476

N. diseases: 117; N. variants: 15
Disease: Malabsorption Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		0.130 GeneticVariation group BEFREE Congenital sucrase-isomaltase deficiency (CSID) is an autosomal recessive disorder of carbohydrate maldigestion and malabsorption caused by mutations in the sucrase-isomaltase (SI) gene. 31557950 2019
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		0.130 Biomarker group BEFREE The current study unraveled CSID as a multifaceted malabsorption disorder that comprises three major classes of functional and trafficking mutants of SI and established a gradient of mild to severe functional deficits in the enzymatic functions of the enzyme. 28062276 2017
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		0.130 GeneticVariation group BEFREE Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption. 16329100 2006
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		0.130 Biomarker group HPO