|
PAGET DISEASE OF BONE 3
|
|
0.800 |
CausalMutation
|
CLINVAR |
The Implications of the Sequestosome 1 Mutation P392L in Patients with Paget's Disease in a United States Cohort.
|
26713335 |
2016 |
|
PAGET DISEASE OF BONE 3
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Detection of SQSTM1/P392L post-zygotic mutations in Paget's disease of bone.
|
25241215 |
2015 |
|
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation.
|
25114083 |
2015 |
|
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Detection of SQSTM1/P392L post-zygotic mutations in Paget's disease of bone.
|
25241215 |
2015 |
|
PAGET DISEASE OF BONE 3
|
|
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 |
|
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
|
|
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 |
|
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.
|
24899140 |
2014 |
|
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.
|
24899140 |
2014 |
|
PAGET DISEASE OF BONE 3
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.
|
24899140 |
2014 |
|
PAGET DISEASE OF BONE 3
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology.
|
23417734 |
2013 |
|
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.
|
24042580 |
2013 |
|
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
|
|
0.800 |
GeneticVariation
|
CLINVAR |
SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.
|
24042580 |
2013 |
|
PAGET DISEASE OF BONE 3
|
|
0.800 |
GeneticVariation
|
CLINVAR |
SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.
|
24042580 |
2013 |
|
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology.
|
23417734 |
2013 |
|
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Contributions of the measles virus nucleocapsid gene and the SQSTM1/p62(P392L) mutation to Paget's disease.
|
21195346 |
2011 |
|
PAGET DISEASE OF BONE 3
|
|
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 |
|
PAGET DISEASE OF BONE 3
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutant p62P392L stimulation of osteoclast differentiation in Paget's disease of bone.
|
21878516 |
2011 |
|
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis.
|
22084127 |
2011 |
|
PAGET DISEASE OF BONE 3
|
|
0.800 |
CausalMutation
|
CLINVAR |
Contributions of the measles virus nucleocapsid gene and the SQSTM1/p62(P392L) mutation to Paget's disease.
|
21195346 |
2011 |
|
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
|
|
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 |
|
PAGET DISEASE OF BONE 3
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Contributions of the measles virus nucleocapsid gene and the SQSTM1/p62(P392L) mutation to Paget's disease.
|
21195346 |
2011 |
|
PAGET DISEASE OF BONE 3
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutations of SQSTM1 are associated with severity and clinical outcome in paget disease of bone.
|
20499339 |
2010 |
|
PAGET DISEASE OF BONE 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Dimerisation of the UBA domain of p62 inhibits ubiquitin binding and regulates NF-kappaB signalling.
|
19931284 |
2010 |
|
PAGET DISEASE OF BONE 3
|
|
0.800 |
CausalMutation
|
CLINVAR |
The p62 P392L mutation linked to Paget's disease induces activation of human osteoclasts.
|
19589897 |
2009 |
|
PAGET DISEASE OF BONE 3
|
|
0.800 |
CausalMutation
|
CLINVAR |
Sequestosome 1 mutations in Paget's disease of bone in Australia: prevalence, genotype/phenotype correlation, and a novel non-UBA domain mutation (P364S) associated with increased NF-kappaB signaling without loss of ubiquitin binding.
|
19257822 |
2009 |