Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
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0.030 | GeneticVariation | BEFREE | However, while in human IBMPFD skeletal muscle tissue 70% of the total VCP mRNA was derived from the mutant allele, in R155C VCP knock-in mice only 5% and 7% mutant mRNA were detected in skeletal muscle and brain tissue, respectively. | 30100055 | 2018 |
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0.030 | GeneticVariation | BEFREE | Among them, 2 were previously identified in pedigrees with a constellation of inclusion body myopathy with Paget disease of the bone and frontotemporal dementia (IBMPFD) and in FALS, and 2 other mutations (p.R159C and p.R155C) in IBMPFD alone. | 23152587 | 2012 |
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0.030 | GeneticVariation | BEFREE | To describe detailed clinical, electrophysiological, biochemical, and neuroimaging findings in IBMPFD linked to VCP p.Arg155Cys in a Korean family. | 21320982 | 2011 |
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0.020 | GeneticVariation | BEFREE | A heterozygous knock-in VCP mouse model of IBMPFD (VCP(R155H/+)) exhibited muscle, bone and brain pathology characteristic of the human disease. | 22898872 | 2012 |
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0.020 | GeneticVariation | BEFREE | This is the first Italian family with multiple individuals diagnosed as having IBMPFD and carrying the recurrent R155H mutation. | 18341608 | 2008 |
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0.010 | GeneticVariation | BEFREE | Therefore, cellular phenotypes caused by P137L mutant expression were not isolated observations, and some other IBMPFD disease-related VCP/p97 mutations could lead to similar outcomes. | 27768726 | 2016 |
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0.010 | GeneticVariation | BEFREE | This stimulatory effect was lost when we used VCP mutants (R155H, R159G, and R191Q) known to cause Inclusion Body Myopathy with Paget's disease of bone and Fronto-temporal Dementia (IBMPFD) and/or familial Amyotrophic Lateral Sclerosis (ALS). | 23349634 | 2013 |
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0.010 | GeneticVariation | BEFREE | Among them, 2 were previously identified in pedigrees with a constellation of inclusion body myopathy with Paget disease of the bone and frontotemporal dementia (IBMPFD) and in FALS, and 2 other mutations (p.R159C and p.R155C) in IBMPFD alone. | 23152587 | 2012 |
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0.010 | GeneticVariation | BEFREE | In 3 unrelated families with IBMPFD segregating VCP p.Arg159His, we observed a high degree of clinical heterogeneity and variable penetrance of the 3 cardinal clinical phenotypes: inclusion body myopathy, Paget disease of bone, and frontotemporal lobar degeneration. | 19704082 | 2009 |