rs121912616
×
Entrez Id:
6476
Gene Symbol:
SI
SI
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
rs121912615
×
Entrez Id:
6476
Gene Symbol:
SI
SI
Sucrase-isomaltase deficiency, congenital
C
0.800
GeneticVariation
CLINVAR
The novel compound heterozygote V577G /C1531W SI mutations lead to lack of SI expression in the duodenal brush border, confirming the diagnosis of CSID .
27749612
2017
rs121912615
×
Entrez Id:
6476
Gene Symbol:
SI
SI
Sucrase-isomaltase deficiency, congenital
C
0.800
CausalMutation
CLINVAR
The multiple roles of sucrase-isomaltase in the intestinal physiology.
26812950
2016
rs121912616
×
Entrez Id:
6476
Gene Symbol:
SI
SI
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
rs121912615
×
Entrez Id:
6476
Gene Symbol:
SI
SI
Sucrase-isomaltase deficiency, congenital
C
0.800
CausalMutation
CLINVAR
Four mutations in the SI gene are responsible for the majority of clinical symptoms of CSID.
23103650
2012
rs121912616
×
Entrez Id:
6476
Gene Symbol:
SI
SI
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
rs121912616
×
Entrez Id:
6476
Gene Symbol:
SI
SI
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
rs79717168
×
Entrez Id:
6476
Gene Symbol:
SI
SI
Sucrase-isomaltase deficiency, congenital
C
0.800
CausalMutation
CLINVAR
Four mutations in the SI gene are responsible for the majority of clinical symptoms of CSID.
23103650
2012
rs121912615
×
Entrez Id:
6476
Gene Symbol:
SI
SI
Sucrase-isomaltase deficiency, congenital
C
0.800
CausalMutation
CLINVAR
Compound heterozygous mutations affect protein folding and function in patients with congenital sucrase-isomaltase deficiency.
19121318
2009
rs121912615
×
Entrez Id:
6476
Gene Symbol:
SI
SI
Sucrase-isomaltase deficiency, congenital
C
0.800
GeneticVariation
CLINVAR
Compound heterozygous mutations affect protein folding and function in patients with congenital sucrase-isomaltase deficiency.
19121318
2009
rs121912616
×
Entrez Id:
6476
Gene Symbol:
SI
SI
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
rs121912616
×
Entrez Id:
6476
Gene Symbol:
SI
SI
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
rs79717168
×
Entrez Id:
6476
Gene Symbol:
SI
SI
Sucrase-isomaltase deficiency, congenital
C
0.800
CausalMutation
CLINVAR
Compound heterozygous mutations affect protein folding and function in patients with congenital sucrase-isomaltase deficiency.
19121318
2009
rs79717168
×
Entrez Id:
6476
Gene Symbol:
SI
SI
Sucrase-isomaltase deficiency, congenital
C
0.800
CausalMutation
CLINVAR
Congenital and putatively acquired forms of sucrase-isomaltase deficiency in infancy: effects of sacrosidase therapy.
19680155
2009
rs121912611
×
Entrez Id:
6476
Gene Symbol:
SI
SI
Sucrase-isomaltase deficiency, congenital
0.800
GeneticVariation
UNIPROT
Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption.
16329100
2006
rs121912612
×
Entrez Id:
6476
Gene Symbol:
SI
SI
Sucrase-isomaltase deficiency, congenital
0.800
GeneticVariation
UNIPROT
Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption.
16329100
2006
rs121912613
×
Entrez Id:
6476
Gene Symbol:
SI
SI
Sucrase-isomaltase deficiency, congenital
0.800
GeneticVariation
UNIPROT
Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption.
16329100
2006
rs121912614
×
Entrez Id:
6476
Gene Symbol:
SI
SI
Sucrase-isomaltase deficiency, congenital
0.800
GeneticVariation
UNIPROT
Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption.
16329100
2006
rs121912615
×
Entrez Id:
6476
Gene Symbol:
SI
SI
Sucrase-isomaltase deficiency, congenital
C
0.800
CausalMutation
CLINVAR
Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption.
16329100
2006
rs121912615
×
Entrez Id:
6476
Gene Symbol:
SI
SI
Sucrase-isomaltase deficiency, congenital
C
0.800
GeneticVariation
CLINVAR
Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption.
16329100
2006
rs121912615
×
Entrez Id:
6476
Gene Symbol:
SI
SI
Sucrase-isomaltase deficiency, congenital
0.800
GeneticVariation
UNIPROT
Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption.
16329100
2006
rs121912616
×
Entrez Id:
6476
Gene Symbol:
SI
SI
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
rs121912616
×
Entrez Id:
6476
Gene Symbol:
SI
SI
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
rs121912616
×
Entrez Id:
6476
Gene Symbol:
SI
SI
Sucrase-isomaltase deficiency, congenital
0.800
GeneticVariation
UNIPROT
Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption.
16329100
2006
rs267607049
×
Entrez Id:
6476
Gene Symbol:
SI
SI
Sucrase-isomaltase deficiency, congenital
0.800
GeneticVariation
UNIPROT
Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption.
16329100
2006