| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
|
|
0.800 | GeneticVariation | UNIPROT | ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation. | 27231034 | 2016 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation. | 27231034 | 2016 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation. | 27231034 | 2016 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | ||||||||||
|
|
|
C | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
C | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | ||||||||||
|
|
|
A | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
G | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability. | 22002931 | 2011 | ||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination. | 20004760 | 2009 | ||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation. | 17304053 | 2007 | ||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor. | 9668174 | 1998 | ||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | Mutations in GDI1 are responsible for X-linked non-specific mental retardation. | 9620768 | 1998 | ||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | A gene for dominant nonspecific X-linked mental retardation is located in Xq28. | 9106537 | 1997 | ||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | Rab GDP dissociation inhibitor: putting rab GTPases in the right place. | 7615494 | 1995 | ||||||
|
|
|
A | 0.700 | GeneticVariation | CLINVAR | Expression patterns of two human genes coding for different rab GDP-dissociation inhibitors (GDIs), extremely conserved proteins involved in cellular transport. | 7543319 | 1995 | ||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR |