Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 226
Gene Symbol: ALDOA
ALDOA
CUI: C0272066
Disease: Glycogen Storage Disease XII
Glycogen Storage Disease XII 		0.700 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 226
Gene Symbol: ALDOA
ALDOA
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
Entrez Id: 226
Gene Symbol: ALDOA
ALDOA
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
Entrez Id: 226
Gene Symbol: ALDOA
ALDOA
CUI: C0272066
Disease: Glycogen Storage Disease XII
Glycogen Storage Disease XII 		0.700 Biomarker GENOMICS_ENGLAND Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A. 8598869

1996
Entrez Id: 226
Gene Symbol: ALDOA
ALDOA
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
Entrez Id: 226
Gene Symbol: ALDOA
ALDOA
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
Entrez Id: 226
Gene Symbol: ALDOA
ALDOA
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
Entrez Id: 226
Gene Symbol: ALDOA
ALDOA
CUI: C0272066
Disease: Glycogen Storage Disease XII
Glycogen Storage Disease XII 		0.700 Biomarker GENOMICS_ENGLAND Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation. 2825199

1987
Entrez Id: 226
Gene Symbol: ALDOA
ALDOA
CUI: C0272066
Disease: Glycogen Storage Disease XII
Glycogen Storage Disease XII 		0.700 Biomarker GENOMICS_ENGLAND Two cases of red cell aldolase deficiency associated with hereditary hemolytic anemia in a Japanese family. 7331996

1981
Entrez Id: 226
Gene Symbol: ALDOA
ALDOA
CUI: C0272066
Disease: Glycogen Storage Disease XII
Glycogen Storage Disease XII 		0.700 Biomarker CTD_human

Entrez Id: 226
Gene Symbol: ALDOA
ALDOA
CUI: C0272066
Disease: Glycogen Storage Disease XII
Glycogen Storage Disease XII 		0.700 GermlineCausalMutation ORPHANET