Source: CLINVAR ×
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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T | 0.800 | CausalMutation | CLINVAR | ||||||
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T | 0.800 | GeneticVariation | CLINVAR | A point mutation in the ubiquitin-associated domain of SQSMT1 is sufficient to cause a Paget's disease-like disorder in mice. | 21515589 | 2011 |
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T | 0.800 | GeneticVariation | CLINVAR | A SQSTM1/p62 mutation linked to Paget's disease increases the osteoclastogenic potential of the bone microenvironment. | 18765443 | 2008 |
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T | 0.800 | GeneticVariation | CLINVAR | Contributions of the measles virus nucleocapsid gene and the SQSTM1/p62(P392L) mutation to Paget's disease. | 21195346 | 2011 |
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T | 0.800 | GeneticVariation | CLINVAR | Detection of SQSTM1/P392L post-zygotic mutations in Paget's disease of bone. | 25241215 | 2015 |
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T | 0.800 | GeneticVariation | CLINVAR | Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology. | 23417734 | 2013 |
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T | 0.800 | GeneticVariation | CLINVAR | Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration. | 24899140 | 2014 |
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T | 0.800 | GeneticVariation | CLINVAR | Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone. | 11992264 | 2002 |
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T | 0.800 | GeneticVariation | CLINVAR | Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB. | 23942205 | 2014 |
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T | 0.800 | GeneticVariation | CLINVAR | SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis. | 24042580 | 2013 |
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T | 0.800 | GeneticVariation | CLINVAR | Structural and functional studies of mutations affecting the UBA domain of SQSTM1 (p62) which cause Paget's disease of bone. | 15493999 | 2004 |
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T | 0.800 | GeneticVariation | CLINVAR | The p62 P392L mutation linked to Paget's disease induces activation of human osteoclasts. | 19589897 | 2009 |