Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | ZFAND1 Recruits p97 and the 26S Proteasome to Promote the Clearance of Arsenite-Induced Stress Granules. | 29804830 | 2018 |
||||
|
0.800 | GeneticVariation | UNIPROT | ZFAND1 Recruits p97 and the 26S Proteasome to Promote the Clearance of Arsenite-Induced Stress Granules. | 29804830 | 2018 |
||||
|
0.800 | GeneticVariation | UNIPROT | ZFAND1 Recruits p97 and the 26S Proteasome to Promote the Clearance of Arsenite-Induced Stress Granules. | 29804830 | 2018 |
||||
|
0.800 | GeneticVariation | UNIPROT | ZFAND1 Recruits p97 and the 26S Proteasome to Promote the Clearance of Arsenite-Induced Stress Granules. | 29804830 | 2018 |
||||
|
0.800 | GeneticVariation | UNIPROT | ZFAND1 Recruits p97 and the 26S Proteasome to Promote the Clearance of Arsenite-Induced Stress Granules. | 29804830 | 2018 |
||||
|
0.800 | GeneticVariation | UNIPROT | ZFAND1 Recruits p97 and the 26S Proteasome to Promote the Clearance of Arsenite-Induced Stress Granules. | 29804830 | 2018 |
||||
|
0.800 | GeneticVariation | UNIPROT | VCP/p97 cooperates with YOD1, UBXD1 and PLAA to drive clearance of ruptured lysosomes by autophagy. | 27753622 | 2017 |
||||
|
0.800 | GeneticVariation | UNIPROT | VCP/p97 cooperates with YOD1, UBXD1 and PLAA to drive clearance of ruptured lysosomes by autophagy. | 27753622 | 2017 |
||||
|
A | 0.800 | CausalMutation | CLINVAR | Mutations in valosin-containing protein (VCP) decrease ADP/ATP translocation across the mitochondrial membrane and impair energy metabolism in human neurons. | 28360103 | 2017 |
|||
|
0.800 | GeneticVariation | UNIPROT | VCP/p97 cooperates with YOD1, UBXD1 and PLAA to drive clearance of ruptured lysosomes by autophagy. | 27753622 | 2017 |
||||
|
0.800 | GeneticVariation | UNIPROT | VCP/p97 cooperates with YOD1, UBXD1 and PLAA to drive clearance of ruptured lysosomes by autophagy. | 27753622 | 2017 |
||||
|
0.800 | GeneticVariation | UNIPROT | VCP/p97 cooperates with YOD1, UBXD1 and PLAA to drive clearance of ruptured lysosomes by autophagy. | 27753622 | 2017 |
||||
|
0.800 | GeneticVariation | UNIPROT | VCP/p97 cooperates with YOD1, UBXD1 and PLAA to drive clearance of ruptured lysosomes by autophagy. | 27753622 | 2017 |
||||
|
0.800 | GeneticVariation | UNIPROT | Nuclear inclusions mimicking poly(A)-binding protein nuclear 1 inclusions in a case of inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia with a novel mutation in the valosin-containing protein gene. | 27209344 | 2016 |
||||
|
A | 0.800 | CausalMutation | CLINVAR | IBMPFD Disease-Causing Mutant VCP/p97 Proteins Are Targets of Autophagic-Lysosomal Degradation. | 27768726 | 2016 |
|||
|
0.800 | GeneticVariation | UNIPROT | Nuclear inclusions mimicking poly(A)-binding protein nuclear 1 inclusions in a case of inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia with a novel mutation in the valosin-containing protein gene. | 27209344 | 2016 |
||||
|
0.800 | GeneticVariation | UNIPROT | Nuclear inclusions mimicking poly(A)-binding protein nuclear 1 inclusions in a case of inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia with a novel mutation in the valosin-containing protein gene. | 27209344 | 2016 |
||||
|
0.800 | GeneticVariation | UNIPROT | Nuclear inclusions mimicking poly(A)-binding protein nuclear 1 inclusions in a case of inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia with a novel mutation in the valosin-containing protein gene. | 27209344 | 2016 |
||||
|
T | 0.800 | CausalMutation | CLINVAR | Pathogenic Mutations in the Valosin-containing Protein/p97(VCP) N-domain Inhibit the SUMOylation of VCP and Lead to Impaired Stress Response. | 27226613 | 2016 |
|||
|
0.800 | GeneticVariation | UNIPROT | Nuclear inclusions mimicking poly(A)-binding protein nuclear 1 inclusions in a case of inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia with a novel mutation in the valosin-containing protein gene. | 27209344 | 2016 |
||||
|
T | 0.800 | CausalMutation | CLINVAR | Pathogenic Mutations in the Valosin-containing Protein/p97(VCP) N-domain Inhibit the SUMOylation of VCP and Lead to Impaired Stress Response. | 27226613 | 2016 |
|||
|
0.800 | GeneticVariation | UNIPROT | Nuclear inclusions mimicking poly(A)-binding protein nuclear 1 inclusions in a case of inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia with a novel mutation in the valosin-containing protein gene. | 27209344 | 2016 |
||||
|
T | 0.800 | CausalMutation | CLINVAR | Global gene expression profiling in R155H knock-in murine model of VCP disease. | 25388089 | 2015 |
|||
|
0.800 | GeneticVariation | UNIPROT | Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation. | 25878907 | 2015 |
||||
|
A | 0.800 | CausalMutation | CLINVAR | Global gene expression profiling in R155H knock-in murine model of VCP disease. | 25388089 | 2015 |