| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Mutations in Jewish patients with Gaucher disease. | 1558964 | 1992 |
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|
T | 0.700 | CausalMutation | CLINVAR | Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients. | 12204005 | 2002 |
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|
T | 0.700 | CausalMutation | CLINVAR | Clinical and genetic characteristics of Korean patients with Gaucher disease. | 20729108 | 2011 |
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|
T | 0.700 | CausalMutation | CLINVAR | Long term effects of enzyme replacement therapy in an Italian cohort of type 3 Gaucher patients. | 25127542 | 2014 |
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|
T | 0.700 | CausalMutation | CLINVAR | The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease. | 11933202 | 2002 |
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|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | GeneticVariation | CLINVAR | Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation. | 8544197 | 1995 |
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|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | GeneticVariation | CLINVAR | "Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and ""modifier"" polymorphisms." | 15146461 | 2004 |
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|
G | 0.800 | GeneticVariation | CLINVAR | Gaucher disease with communicating hydrocephalus and cardiac involvement. | 19816973 | 2010 |
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|
G | 0.800 | GeneticVariation | CLINVAR | Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S). | 11992489 | 2002 |
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|
G | 0.800 | GeneticVariation | CLINVAR | Severe valvular and aortic arch calcification in a patient with Gaucher's disease homozygous for the D409H mutation. | 11359469 | 2001 |
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|
G | 0.800 | GeneticVariation | CLINVAR | Prevalent and rare mutations among Gaucher patients. | 2269438 | 1990 |
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|
G | 0.800 | GeneticVariation | CLINVAR | Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations. | 16293621 | 2006 |
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|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR |