Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Genotype-phenotype study in patients with valosin-containing protein mutations associated with multisystem proteinopathy. | 28692196 | 2018 |
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|
A | 0.700 | 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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|
A | 0.700 | CausalMutation | CLINVAR | Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains. | 26555887 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | Involvement of peripheral and central nervous systems in a valosin-containing protein mutation. | 24829604 | 2014 |
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|
A | 0.700 | CausalMutation | CLINVAR | Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant. | 25492614 | 2014 |
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|
A | 0.700 | CausalMutation | CLINVAR | Valosin-containing protein mutation and Parkinson's disease. | 21816654 | 2012 |
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|
A | 0.700 | 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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|
A | 0.700 | CausalMutation | CLINVAR | Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis. | 23152587 | 2012 |
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|
A | 0.700 | CausalMutation | CLINVAR | Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His. | 19704082 | 2009 |
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|
A | 0.700 | CausalMutation | CLINVAR | Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation. | 17889967 | 2009 |
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|
A | 0.700 | CausalMutation | CLINVAR | Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene. | 16247064 | 2005 |