| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.800 | CausalMutation | CLINVAR | Four mutations in the SI gene are responsible for the majority of clinical symptoms of CSID. | 23103650 | 2012 |
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|
C | 0.800 | CausalMutation | CLINVAR | Compound heterozygous mutations affect protein folding and function in patients with congenital sucrase-isomaltase deficiency. | 19121318 | 2009 |
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|
C | 0.800 | CausalMutation | CLINVAR | Congenital and putatively acquired forms of sucrase-isomaltase deficiency in infancy: effects of sacrosidase therapy. | 19680155 | 2009 |
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|
0.800 | GeneticVariation | UNIPROT | Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption. | 16329100 | 2006 |
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|
C | 0.800 | CausalMutation | CLINVAR | Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption. | 16329100 | 2006 |
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|
0.800 | GeneticVariation | UNIPROT | Congenital sucrase-isomaltase deficiency because of an accumulation of the mutant enzyme in the endoplasmic reticulum. | 14724820 | 2003 |
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|
0.800 | GeneticVariation | UNIPROT | Molecular basis of aberrant apical protein transport in an intestinal enzyme disorder. | 11340066 | 2001 |
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|
0.800 | GeneticVariation | UNIPROT | Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the enzyme. | 10903344 | 2000 |
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|
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 |