GBA, glucosylceramidase beta, 2629
N. diseases: 319; N. variants: 157
Source: ALL
| Variant | Gene | Disease | 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 | The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease. | 11933202 | 2002 | |||||||
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0.800 | GeneticVariation | UNIPROT | Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease. | 8780099 | 1996 | |||||||
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C | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.700 | GeneticVariation | UNIPROT | Functional analysis of 11 novel GBA alleles. | 24022302 | 2014 | |||||||
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0.700 | GeneticVariation | UNIPROT | The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease. | 11933202 | 2002 | |||||||
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0.700 | GeneticVariation | UNIPROT | Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease. | 8780099 | 1996 | |||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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GC | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | GeneticVariation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR |