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
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
rs79717168
×
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
rs79717168
×
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
rs79717168
×
Entrez Id:
6476
Gene Symbol:
SI
SI
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
rs79717168
×
Entrez Id:
6476
Gene Symbol:
SI
SI
Sucrase-isomaltase deficiency, congenital
0.800
GeneticVariation
UNIPROT
Molecular basis of aberrant apical protein transport in an intestinal enzyme disorder.
11340066
2001
rs79717168
×
Entrez Id:
6476
Gene Symbol:
SI
SI
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
rs79717168
×
Entrez Id:
6476
Gene Symbol:
SI
SI
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