Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs779692980
rs779692980
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		0.010 GeneticVariation BEFREE 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
dbSNP: rs551975446
rs551975446
SI
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.010 GeneticVariation BEFREE A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII). 7981676

1994
dbSNP: rs551975446
rs551975446
SI
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.010 GeneticVariation BEFREE A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII). 7981676

1994
dbSNP: rs1472425299
rs1472425299
SI
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.010 GeneticVariation BEFREE We report here that a familial mouse model (transgenic mice over-expressing the G93A mutation of the Cu/Zn superoxide dismutase 1 gene) of ALS enters a progressive state of acidosis that is associated with several metabolic (hormonal) alternations that favor lipolysis. 23754387

2013
dbSNP: rs1465957886
rs1465957886
SI
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.010 GeneticVariation BEFREE Similar results were reported for c.1798C>T (p.Arg600Cys), which further supports the biochemical phenotype observed in IO. 24384324

2014
dbSNP: rs1465957886
rs1465957886
SI
CUI: C3888924
Disease: Glycogen storage disease due to acid maltase deficiency, infantile onset
Glycogen storage disease due to acid maltase deficiency, infantile onset 		0.010 GeneticVariation BEFREE It is concluded that the novel sequence variant c.1211A>G results in full CRIM but significantly lower GAA activity, which in combination with c.1798C>T leads to infantile-onset Pompe disease. 24384324

2014
dbSNP: rs79717168
rs79717168
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
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
dbSNP: rs79717168
rs79717168
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
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
dbSNP: rs79717168
rs79717168
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
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
dbSNP: rs79717168
rs79717168
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
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
dbSNP: rs267607049
rs267607049
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		G 0.800 CausalMutation CLINVAR

dbSNP: rs121912616
rs121912616
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
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
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
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
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
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
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
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
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
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
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
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
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
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
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
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: rs121912615
rs121912615
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
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
dbSNP: rs121912615
rs121912615
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
Sucrase-isomaltase deficiency, congenital 		C 0.800 CausalMutation CLINVAR The multiple roles of sucrase-isomaltase in the intestinal physiology. 26812950

2016
dbSNP: rs121912615
rs121912615
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
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
dbSNP: rs121912615
rs121912615
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
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
dbSNP: rs121912615
rs121912615
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
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
dbSNP: rs121912615
rs121912615
SI
CUI: C1283620
Disease: Sucrase-isomaltase deficiency, congenital
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