| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
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 | The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease. | 11933202 | 2002 |
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|
0.800 | GeneticVariation | UNIPROT | The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease. | 11933202 | 2002 |
||||
|
0.800 | GeneticVariation | UNIPROT | Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease? | 10352942 | 1999 |
||||
|
0.800 | GeneticVariation | UNIPROT | Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease? | 10352942 | 1999 |
||||
|
0.800 | GeneticVariation | UNIPROT | Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease? | 10352942 | 1999 |
||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
0.010 | GeneticVariation | BEFREE | The sequencing analysis identified the presence of missense G234E and H413P heterozygous mutations in glucerebrosidase (GBA) exon 7 and 10, with the latter first observed to be associated with PLGD.This infant died at 73 days of age. | 31192173 | 2019 |
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|
0.010 | GeneticVariation | BEFREE | A newborn case with perinatal-lethal Gaucher disease due to R463H homozygosity complicated by C677T homozygosity in the MTHFR gene. | 21823541 | 2011 |