SI, sucrase-isomaltase, 6476

N. diseases: 117; N. variants: 15
Disease: Sucrase-isomaltase deficiency, congenital ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.790 Biomarker disease GENOMICS_ENGLAND Clinical heterogeneity in congenital sucrase-isomaltase deficiency. 8648527 1996
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.790 GeneticVariation disease UNIPROT Congenital sucrase-isomaltase deficiency. Identification of a glutamine to proline substitution that leads to a transport block of sucrase-isomaltase in a pre-Golgi compartment. 8609217 1996
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.790 Biomarker disease CTD_human