Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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|
0.800 | GeneticVariation | UNIPROT | Functional analysis of 11 novel GBA alleles. | 24022302 | 2014 |
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0.800 | GeneticVariation | UNIPROT | Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl. | 21098288 | 2010 |
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|
0.800 | GeneticVariation | UNIPROT | Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. | 16293621 | 2006 |
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|
0.800 | GeneticVariation | UNIPROT | Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. | 10796875 | 2000 |
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|
0.800 | GeneticVariation | UNIPROT | Six new Gaucher disease mutations. | 9554454 | 1998 |
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|
0.800 | GeneticVariation | UNIPROT | Gaucher type 2 disease: identification of a novel transversion mutation in a French-Irish patient. | 9637431 | 1998 |
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|
0.800 | GeneticVariation | UNIPROT | A novel complex allele and two new point mutations in type 2 (acute neuronopathic) Gaucher disease. | 9851895 | 1998 |
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|
0.800 | GeneticVariation | UNIPROT | Mutation analysis in 46 British and Irish patients with Gaucher's disease. | 9279145 | 1997 |
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|
0.800 | GeneticVariation | UNIPROT | Identification of a new mutation (P178S) in an African-American patient with type 2 Gaucher disease. | 7627192 | 1995 |
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|
C | 0.800 | CausalMutation | CLINVAR |