| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | GeneticVariation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | GeneticVariation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | GeneticVariation | CLINVAR | Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene. | 2508065 | 1989 |
|||
|
A | 0.800 | GeneticVariation | CLINVAR | Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. | 10796875 | 2000 |
|||
|
A | 0.800 | GeneticVariation | CLINVAR | V394L, G377S, and N188S are mutations that have previously been associated with non-neuronopathic Gaucher disease. | 12595585 | 2003 |
|||
|
A | 0.800 | GeneticVariation | CLINVAR | Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. | 16293621 | 2006 |
|||
|
A | 0.800 | GeneticVariation | CLINVAR | Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models. | 21257328 | 2011 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | GeneticVariation | CLINVAR | Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression. | 8294487 | 1994 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene. | 18586596 | 2008 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | Genetic diagnosis of Gaucher's disease. | 1348297 | 1992 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | Mutation analysis in 46 British and Irish patients with Gaucher's disease. | 9279145 | 1997 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease. | 24522292 | 2014 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | Adult type 3 Gaucher disease as manifestation of R463C/Rec Nci I mutation: first reported case in the world literature. | 24482953 | 2013 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | Sequence of two alleles responsible for Gaucher disease. | 1972019 | 1990 |