SI, sucrase-isomaltase, 6476

N. diseases: 117; N. variants: 15
Disease: Sucrase-isomaltase deficiency, congenital ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912616
rs121912616
Entrez Id: 6476
Gene Symbol: SI
SI
CUI: C1283620
Disease:
Sucrase-isomaltase deficiency, congenital 		T 0.800 GeneticVariation CLINVAR We sequenced <i>SI</i> exons in seven familial cases, and screened four CSID mutations (p.Val557Gly, p.Gly1073Asp, p.Arg1124Ter and p.Phe1745Cys) and a common <i>SI</i> coding polymorphism (p.Val15Phe) in a multicentre cohort of 1887 cases and controls. 27872184 2018
dbSNP: rs121912616
rs121912616
Entrez Id: 6476
Gene Symbol: SI
SI
CUI: C1283620
Disease:
Sucrase-isomaltase deficiency, congenital 		T 0.800 GeneticVariation CLINVAR Use of the Biphasic (13)C-Sucrose/Glucose Breath Test to Assess Sucrose Maldigestion in Adults with Functional Bowel Disorders. 27579322 2016
dbSNP: rs121912616
rs121912616
Entrez Id: 6476
Gene Symbol: SI
SI
CUI: C1283620
Disease:
Sucrase-isomaltase deficiency, congenital 		T 0.800 GeneticVariation CLINVAR Four mutations in the SI gene are responsible for the majority of clinical symptoms of CSID. 23103650 2012
dbSNP: rs121912616
rs121912616
Entrez Id: 6476
Gene Symbol: SI
SI
CUI: C1283620
Disease:
Sucrase-isomaltase deficiency, congenital 		T 0.800 CausalMutation CLINVAR Four mutations in the SI gene are responsible for the majority of clinical symptoms of CSID. 23103650 2012
dbSNP: rs121912616
rs121912616
Entrez Id: 6476
Gene Symbol: SI
SI
CUI: C1283620
Disease:
Sucrase-isomaltase deficiency, congenital 		T 0.800 GeneticVariation CLINVAR Compound heterozygous mutations affect protein folding and function in patients with congenital sucrase-isomaltase deficiency. 19121318 2009
dbSNP: rs121912616
rs121912616
Entrez Id: 6476
Gene Symbol: SI
SI
CUI: C1283620
Disease:
Sucrase-isomaltase deficiency, congenital 		T 0.800 CausalMutation CLINVAR Compound heterozygous mutations affect protein folding and function in patients with congenital sucrase-isomaltase deficiency. 19121318 2009
dbSNP: rs121912616
rs121912616
Entrez Id: 6476
Gene Symbol: SI
SI
CUI: C1283620
Disease:
Sucrase-isomaltase deficiency, congenital 		T 0.800 CausalMutation CLINVAR Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption. 16329100 2006
dbSNP: rs121912616
rs121912616
Entrez Id: 6476
Gene Symbol: SI
SI
CUI: C1283620
Disease:
Sucrase-isomaltase deficiency, congenital 		T 0.800 GeneticVariation CLINVAR Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption. 16329100 2006
dbSNP: rs121912616
rs121912616
Entrez Id: 6476
Gene Symbol: SI
SI
CUI: C1283620
Disease:
Sucrase-isomaltase deficiency, congenital 		0.800 GeneticVariation UNIPROT Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption. 16329100 2006
dbSNP: rs121912616
rs121912616
Entrez Id: 6476
Gene Symbol: SI
SI
CUI: C1283620
Disease:
Sucrase-isomaltase deficiency, congenital 		0.800 GeneticVariation UNIPROT Congenital sucrase-isomaltase deficiency because of an accumulation of the mutant enzyme in the endoplasmic reticulum. 14724820 2003
dbSNP: rs121912616
rs121912616
Entrez Id: 6476
Gene Symbol: SI
SI
CUI: C1283620
Disease:
Sucrase-isomaltase deficiency, congenital 		0.800 GeneticVariation UNIPROT Molecular basis of aberrant apical protein transport in an intestinal enzyme disorder. 11340066 2001
dbSNP: rs121912616
rs121912616
Entrez Id: 6476
Gene Symbol: SI
SI
CUI: C1283620
Disease:
Sucrase-isomaltase deficiency, congenital 		0.800 GeneticVariation UNIPROT Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the enzyme. 10903344 2000
dbSNP: rs121912616
rs121912616
Entrez Id: 6476
Gene Symbol: SI
SI
CUI: C1283620
Disease:
Sucrase-isomaltase deficiency, congenital 		0.800 GeneticVariation 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