Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
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 |
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T | 0.800 | CausalMutation | CLINVAR | Altered intersubunit communication is the molecular basis for functional defects of pathogenic p97 mutants. | 24196964 | 2013 |
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T | 0.800 | CausalMutation | CLINVAR | A unique IBMPFD-related P97/VCP mutation with differential binding pattern and subcellular localization. | 23333620 | 2013 |
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T | 0.800 | CausalMutation | CLINVAR | Pathogenic VCP mutations induce mitochondrial uncoupling and reduced ATP levels. | 23498975 | 2013 |
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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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|
T | 0.800 | CausalMutation | CLINVAR | Phenotypic variability in three families with valosin-containing protein mutation. | 22900631 | 2013 |
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|
T | 0.800 | CausalMutation | CLINVAR | Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity. | 21984748 | 2012 |
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T | 0.800 | CausalMutation | CLINVAR | The role of the N-domain in the ATPase activity of the mammalian AAA ATPase p97/VCP. | 22270372 | 2012 |
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|
T | 0.800 | CausalMutation | CLINVAR | Exome sequencing reveals VCP mutations as a cause of familial ALS. | 21145000 | 2010 |
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0.800 | GeneticVariation | UNIPROT | Exome sequencing reveals VCP mutations as a cause of familial ALS. | 21145000 | 2010 |
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|
T | 0.800 | CausalMutation | CLINVAR | VCP mutations causing frontotemporal lobar degeneration disrupt localization of TDP-43 and induce cell death. | 19237541 | 2009 |
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T | 0.800 | CausalMutation | CLINVAR | Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. | 15034582 | 2004 |