| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. | 27604308 | 2016 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme function. | 14766013 | 2004 | ||||
|
0.700 | GeneticVariation | disease | 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 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A. | 8598869 | 1996 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A. | 8598869 | 1996 | ||||
|
0.700 | GeneticVariation | disease | 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 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation. | 2825199 | 1987 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation. | 2825199 | 1987 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Two cases of red cell aldolase deficiency associated with hereditary hemolytic anemia in a Japanese family. | 7331996 | 1981 | ||||
|
0.700 | Biomarker | disease | CTD_human | |||||||
|
0.700 | GermlineCausalMutation | disease | ORPHANET |