Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909533
rs121909533
ALDOA ; LOC112694756
CUI: C0272066
Disease: Glycogen Storage Disease XII
Glycogen Storage Disease XII 		0.800 GeneticVariation UNIPROT Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme function. 14766013

2004
dbSNP: rs121909533
rs121909533
ALDOA ; LOC112694756
CUI: C0272066
Disease: Glycogen Storage Disease XII
Glycogen Storage Disease XII 		0.800 GeneticVariation UNIPROT Hemolytic anemia and severe rhabdomyolysis caused by compound heterozygous mutations of the gene for erythrocyte/muscle isozyme of aldolase, ALDOA(Arg303X/Cys338Tyr). 14615364

2004
dbSNP: rs121909533
rs121909533
ALDOA ; LOC112694756
CUI: C0272066
Disease: Glycogen Storage Disease XII
Glycogen Storage Disease XII 		0.800 GeneticVariation UNIPROT Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A. 8598869

1996
dbSNP: rs121909533
rs121909533
ALDOA ; LOC112694756
CUI: C0272066
Disease: Glycogen Storage Disease XII
Glycogen Storage Disease XII 		0.800 GeneticVariation UNIPROT Human aldolase A of a hemolytic anemia patient with Asp-128----Gly substitution: characteristics of an enzyme generated in E. coli transfected with the expression plasmid pHAAD128G. 2229018

1990
dbSNP: rs121909533
rs121909533
ALDOA ; LOC112694756
CUI: C0272066
Disease: Glycogen Storage Disease XII
Glycogen Storage Disease XII 		0.800 GeneticVariation UNIPROT Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation. 2825199

1987
dbSNP: rs121909533
rs121909533
ALDOA ; LOC112694756
CUI: C0272066
Disease: Glycogen Storage Disease XII
Glycogen Storage Disease XII 		G 0.800 CausalMutation CLINVAR

dbSNP: rs121909534
rs121909534
ALDOA ; LOC112694756
CUI: C0272066
Disease: Glycogen Storage Disease XII
Glycogen Storage Disease XII 		0.800 GeneticVariation UNIPROT Hemolytic anemia and severe rhabdomyolysis caused by compound heterozygous mutations of the gene for erythrocyte/muscle isozyme of aldolase, ALDOA(Arg303X/Cys338Tyr). 14615364

2004
dbSNP: rs121909534
rs121909534
ALDOA ; LOC112694756
CUI: C0272066
Disease: Glycogen Storage Disease XII
Glycogen Storage Disease XII 		0.800 GeneticVariation UNIPROT Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme function. 14766013

2004
dbSNP: rs121909534
rs121909534
ALDOA ; LOC112694756
CUI: C0272066
Disease: Glycogen Storage Disease XII
Glycogen Storage Disease XII 		0.800 GeneticVariation UNIPROT Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A. 8598869

1996
dbSNP: rs121909534
rs121909534
ALDOA ; LOC112694756
CUI: C0272066
Disease: Glycogen Storage Disease XII
Glycogen Storage Disease XII 		0.800 GeneticVariation UNIPROT Human aldolase A of a hemolytic anemia patient with Asp-128----Gly substitution: characteristics of an enzyme generated in E. coli transfected with the expression plasmid pHAAD128G. 2229018

1990
dbSNP: rs121909534
rs121909534
ALDOA ; LOC112694756
CUI: C0272066
Disease: Glycogen Storage Disease XII
Glycogen Storage Disease XII 		0.800 GeneticVariation UNIPROT Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation. 2825199

1987
dbSNP: rs121909534
rs121909534
ALDOA ; LOC112694756
CUI: C0272066
Disease: Glycogen Storage Disease XII
Glycogen Storage Disease XII 		A 0.800 CausalMutation CLINVAR

dbSNP: rs138824667
rs138824667
ALDOA ; LOC112694756
CUI: C0272066
Disease: Glycogen Storage Disease XII
Glycogen Storage Disease XII 		0.700 GeneticVariation UNIPROT Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme function. 14766013

2004
dbSNP: rs138824667
rs138824667
ALDOA ; LOC112694756
CUI: C0272066
Disease: Glycogen Storage Disease XII
Glycogen Storage Disease XII 		0.700 GeneticVariation UNIPROT Hemolytic anemia and severe rhabdomyolysis caused by compound heterozygous mutations of the gene for erythrocyte/muscle isozyme of aldolase, ALDOA(Arg303X/Cys338Tyr). 14615364

2004
dbSNP: rs138824667
rs138824667
ALDOA ; LOC112694756
CUI: C0272066
Disease: Glycogen Storage Disease XII
Glycogen Storage Disease XII 		0.700 GeneticVariation UNIPROT Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A. 8598869

1996
dbSNP: rs138824667
rs138824667
ALDOA ; LOC112694756
CUI: C0272066
Disease: Glycogen Storage Disease XII
Glycogen Storage Disease XII 		0.700 GeneticVariation UNIPROT Human aldolase A of a hemolytic anemia patient with Asp-128----Gly substitution: characteristics of an enzyme generated in E. coli transfected with the expression plasmid pHAAD128G. 2229018

1990
dbSNP: rs138824667
rs138824667
ALDOA ; LOC112694756
CUI: C0272066
Disease: Glycogen Storage Disease XII
Glycogen Storage Disease XII 		0.700 GeneticVariation UNIPROT Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation. 2825199

1987
dbSNP: rs7201518
rs7201518
ALDOA
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019