rs121909335, VCP
N. diseases: 9
Source: ALL
| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year |
|---|---|---|---|---|---|---|---|
|
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
0.800 | GeneticVariation | UNIPROT | ZFAND1 Recruits p97 and the 26S Proteasome to Promote the Clearance of Arsenite-Induced Stress Granules. | 29804830 | 2018 | |
|
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
0.800 | GeneticVariation | UNIPROT | VCP/p97 cooperates with YOD1, UBXD1 and PLAA to drive clearance of ruptured lysosomes by autophagy. | 27753622 | 2017 | |
|
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
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 | |
|
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
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 | |
|
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
0.800 | CausalMutation | CLINVAR | Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains. | 26555887 | 2015 | |
|
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
0.800 | GeneticVariation | UNIPROT | Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation. | 25878907 | 2015 | |
|
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
0.800 | CausalMutation | CLINVAR | Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant. | 25492614 | 2014 | |
|
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
0.800 | CausalMutation | CLINVAR | Involvement of peripheral and central nervous systems in a valosin-containing protein mutation. | 24829604 | 2014 | |
|
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
0.800 | GeneticVariation | UNIPROT | A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease. | 25125609 | 2014 | |
|
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
0.800 | GeneticVariation | UNIPROT | A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. | 23349634 | 2013 | |
|
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
0.800 | CausalMutation | CLINVAR | VCP mutations in familial and sporadic amyotrophic lateral sclerosis. | 22078486 | 2012 | |
|
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
0.800 | CausalMutation | CLINVAR | The role of the N-domain in the ATPase activity of the mammalian AAA ATPase p97/VCP. | 22270372 | 2012 | |
|
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
0.800 | GeneticVariation | UNIPROT | Endolysosomal sorting of ubiquitylated caveolin-1 is regulated by VCP and UBXD1 and impaired by VCP disease mutations. | 21822278 | 2011 | |
|
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
0.800 | GeneticVariation | UNIPROT | A novel ATP-dependent conformation in p97 N-D1 fragment revealed by crystal structures of disease-related mutants. | 20512113 | 2010 | |
|
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
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 | |
|
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
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 | |
|
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
0.800 | CausalMutation | CLINVAR | TAR DNA-Binding protein 43 accumulation in protein aggregate myopathies. | 19225410 | 2009 | |
|
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
0.800 | CausalMutation | CLINVAR | Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His. | 19704082 | 2009 | |
|
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
0.800 | GeneticVariation | UNIPROT | Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia. | 17935506 | 2007 | |
|
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
0.800 | GeneticVariation | UNIPROT | Inclusion body myopathy-associated mutations in p97/VCP impair endoplasmic reticulum-associated degradation. | 16321991 | 2006 | |
|
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
0.800 | CausalMutation | CLINVAR | Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene. | 16247064 | 2005 | |
|
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
0.800 | GeneticVariation | UNIPROT | Mutant valosin-containing protein causes a novel type of frontotemporal dementia. | 15732117 | 2005 | |
|
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
0.800 | GeneticVariation | UNIPROT | Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene. | 16247064 | 2005 | |
|
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1
|
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 |