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 |
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|
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 |
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|
0.800 | GeneticVariation | UNIPROT | Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. | 15034582 | 2004 |
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|
0.800 | GeneticVariation | UNIPROT | A novel ATP-dependent conformation in p97 N-D1 fragment revealed by crystal structures of disease-related mutants. | 20512113 | 2010 |
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|
0.800 | GeneticVariation | UNIPROT | A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease. | 25125609 | 2014 |
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|
0.800 | GeneticVariation | UNIPROT | Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia. | 17935506 | 2007 |
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|
0.800 | GeneticVariation | UNIPROT | Inclusion body myopathy-associated mutations in p97/VCP impair endoplasmic reticulum-associated degradation. | 16321991 | 2006 |
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|
0.800 | GeneticVariation | UNIPROT | VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD. | 20104022 | 2010 |
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|
0.800 | GeneticVariation | UNIPROT | Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation. | 25878907 | 2015 |
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|
0.800 | GeneticVariation | UNIPROT | Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene. | 16247064 | 2005 |
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|
0.800 | GeneticVariation | UNIPROT | Endolysosomal sorting of ubiquitylated caveolin-1 is regulated by VCP and UBXD1 and impaired by VCP disease mutations. | 21822278 | 2011 |
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|
0.800 | GeneticVariation | UNIPROT | Two Australian families with inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia: novel clinical and genetic findings. | 20335036 | 2010 |
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|
0.800 | GeneticVariation | UNIPROT | A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. | 23349634 | 2013 |
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|
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 | Mutant valosin-containing protein causes a novel type of frontotemporal dementia. | 15732117 | 2005 |
||||
|
0.800 | GeneticVariation | UNIPROT | Endolysosomal sorting of ubiquitylated caveolin-1 is regulated by VCP and UBXD1 and impaired by VCP disease mutations. | 21822278 | 2011 |
||||
|
0.800 | GeneticVariation | UNIPROT | Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. | 15034582 | 2004 |
||||
|
0.800 | GeneticVariation | UNIPROT | Mutant valosin-containing protein causes a novel type of frontotemporal dementia. | 15732117 | 2005 |
||||
|
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 |
||||
|
0.800 | GeneticVariation | UNIPROT | A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. | 23349634 | 2013 |
||||
|
0.800 | GeneticVariation | UNIPROT | Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene. | 16247064 | 2005 |
||||
|
0.800 | GeneticVariation | UNIPROT | Two Australian families with inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia: novel clinical and genetic findings. | 20335036 | 2010 |
||||
|
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 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD. | 20104022 | 2010 |