SQSTM1, sequestosome 1, 8878

N. diseases: 470; N. variants: 43
Disease: PAGET DISEASE OF BONE 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893941
rs104893941
Entrez Id: 8878;51149
Gene Symbol: SQSTM1;MRNIP
SQSTM1;MRNIP
CUI: C4085252
Disease:
PAGET DISEASE OF BONE 3 		T 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
dbSNP: rs104893941
rs104893941
Entrez Id: 8878;51149
Gene Symbol: SQSTM1;MRNIP
SQSTM1;MRNIP
CUI: C4085252
Disease:
PAGET DISEASE OF BONE 3 		T 0.800 GeneticVariation CLINVAR Detection of SQSTM1/P392L post-zygotic mutations in Paget's disease of bone. 25241215 2015
dbSNP: rs104893941
rs104893941
Entrez Id: 8878;51149
Gene Symbol: SQSTM1;MRNIP
SQSTM1;MRNIP
CUI: C4085252
Disease:
PAGET DISEASE OF BONE 3 		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
dbSNP: rs104893941
rs104893941
Entrez Id: 8878;51149
Gene Symbol: SQSTM1;MRNIP
SQSTM1;MRNIP
CUI: C4085252
Disease:
PAGET DISEASE OF BONE 3 		T 0.800 GeneticVariation CLINVAR Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration. 24899140 2014
dbSNP: rs104893941
rs104893941
Entrez Id: 8878;51149
Gene Symbol: SQSTM1;MRNIP
SQSTM1;MRNIP
CUI: C4085252
Disease:
PAGET DISEASE OF BONE 3 		T 0.800 GeneticVariation CLINVAR Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology. 23417734 2013
dbSNP: rs104893941
rs104893941
Entrez Id: 8878;51149
Gene Symbol: SQSTM1;MRNIP
SQSTM1;MRNIP
CUI: C4085252
Disease:
PAGET DISEASE OF BONE 3 		T 0.800 GeneticVariation CLINVAR SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis. 24042580 2013
dbSNP: rs104893941
rs104893941
Entrez Id: 8878;51149
Gene Symbol: SQSTM1;MRNIP
SQSTM1;MRNIP
CUI: C4085252
Disease:
PAGET DISEASE OF BONE 3 		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
dbSNP: rs104893941
rs104893941
Entrez Id: 8878;51149
Gene Symbol: SQSTM1;MRNIP
SQSTM1;MRNIP
CUI: C4085252
Disease:
PAGET DISEASE OF BONE 3 		T 0.800 CausalMutation CLINVAR Mutant p62P392L stimulation of osteoclast differentiation in Paget's disease of bone. 21878516 2011
dbSNP: rs104893941
rs104893941
Entrez Id: 8878;51149
Gene Symbol: SQSTM1;MRNIP
SQSTM1;MRNIP
CUI: C4085252
Disease:
PAGET DISEASE OF BONE 3 		T 0.800 CausalMutation CLINVAR Contributions of the measles virus nucleocapsid gene and the SQSTM1/p62(P392L) mutation to Paget's disease. 21195346 2011
dbSNP: rs104893941
rs104893941
Entrez Id: 8878;51149
Gene Symbol: SQSTM1;MRNIP
SQSTM1;MRNIP
CUI: C4085252
Disease:
PAGET DISEASE OF BONE 3 		T 0.800 GeneticVariation CLINVAR Contributions of the measles virus nucleocapsid gene and the SQSTM1/p62(P392L) mutation to Paget's disease. 21195346 2011
dbSNP: rs104893941
rs104893941
Entrez Id: 8878;51149
Gene Symbol: SQSTM1;MRNIP
SQSTM1;MRNIP
CUI: C4085252
Disease:
PAGET DISEASE OF BONE 3 		T 0.800 CausalMutation CLINVAR Mutations of SQSTM1 are associated with severity and clinical outcome in paget disease of bone. 20499339 2010
dbSNP: rs104893941
rs104893941
Entrez Id: 8878;51149
Gene Symbol: SQSTM1;MRNIP
SQSTM1;MRNIP
CUI: C4085252
Disease:
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
dbSNP: rs104893941
rs104893941
Entrez Id: 8878;51149
Gene Symbol: SQSTM1;MRNIP
SQSTM1;MRNIP
CUI: C4085252
Disease:
PAGET DISEASE OF BONE 3 		T 0.800 CausalMutation CLINVAR The p62 P392L mutation linked to Paget's disease induces activation of human osteoclasts. 19589897 2009
dbSNP: rs104893941
rs104893941
Entrez Id: 8878;51149
Gene Symbol: SQSTM1;MRNIP
SQSTM1;MRNIP
CUI: C4085252
Disease:
PAGET DISEASE OF BONE 3 		T 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
dbSNP: rs104893941
rs104893941
Entrez Id: 8878;51149
Gene Symbol: SQSTM1;MRNIP
SQSTM1;MRNIP
CUI: C4085252
Disease:
PAGET DISEASE OF BONE 3 		T 0.800 GeneticVariation CLINVAR The p62 P392L mutation linked to Paget's disease induces activation of human osteoclasts. 19589897 2009
dbSNP: rs104893941
rs104893941
Entrez Id: 8878;51149
Gene Symbol: SQSTM1;MRNIP
SQSTM1;MRNIP
CUI: C4085252
Disease:
PAGET DISEASE OF BONE 3 		T 0.800 GeneticVariation CLINVAR A SQSTM1/p62 mutation linked to Paget's disease increases the osteoclastogenic potential of the bone microenvironment. 18765443 2008
dbSNP: rs104893941
rs104893941
Entrez Id: 8878;51149
Gene Symbol: SQSTM1;MRNIP
SQSTM1;MRNIP
CUI: C4085252
Disease:
PAGET DISEASE OF BONE 3 		T 0.800 CausalMutation CLINVAR Founder effect in different European countries for the recurrent P392L SQSTM1 mutation in Paget's Disease of Bone. 18543015 2008
dbSNP: rs104893941
rs104893941
Entrez Id: 8878;51149
Gene Symbol: SQSTM1;MRNIP
SQSTM1;MRNIP
CUI: C4085252
Disease:
PAGET DISEASE OF BONE 3 		T 0.800 CausalMutation CLINVAR Sequestosome 1: mutation frequencies, haplotypes, and phenotypes in familial Paget's disease of bone. 17229007 2006
dbSNP: rs104893941
rs104893941
Entrez Id: 8878;51149
Gene Symbol: SQSTM1;MRNIP
SQSTM1;MRNIP
CUI: C4085252
Disease:
PAGET DISEASE OF BONE 3 		T 0.800 CausalMutation CLINVAR A novel mutation (K378X) in the sequestosome 1 gene associated with increased NF-kappaB signaling and Paget's disease of bone with a severe phenotype. 16813535 2006
dbSNP: rs104893941
rs104893941
Entrez Id: 8878;51149
Gene Symbol: SQSTM1;MRNIP
SQSTM1;MRNIP
CUI: C4085252
Disease:
PAGET DISEASE OF BONE 3 		T 0.800 CausalMutation CLINVAR Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone: evidence for a founder effect in patients of British descent. 15647816 2005
dbSNP: rs104893941
rs104893941
Entrez Id: 8878;51149
Gene Symbol: SQSTM1;MRNIP
SQSTM1;MRNIP
CUI: C4085252
Disease:
PAGET DISEASE OF BONE 3 		T 0.800 CausalMutation CLINVAR Loss of ubiquitin-binding associated with Paget's disease of bone p62 (SQSTM1) mutations. 15765181 2005
dbSNP: rs104893941
rs104893941
Entrez Id: 8878;51149
Gene Symbol: SQSTM1;MRNIP
SQSTM1;MRNIP
CUI: C4085252
Disease:
PAGET DISEASE OF BONE 3 		T 0.800 CausalMutation CLINVAR Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: genotype phenotype correlation, functional analysis, and structural consequences. 15176995 2004
dbSNP: rs104893941
rs104893941
Entrez Id: 8878;51149
Gene Symbol: SQSTM1;MRNIP
SQSTM1;MRNIP
CUI: C4085252
Disease:
PAGET DISEASE OF BONE 3 		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
dbSNP: rs104893941
rs104893941
Entrez Id: 8878;51149
Gene Symbol: SQSTM1;MRNIP
SQSTM1;MRNIP
CUI: C4085252
Disease:
PAGET DISEASE OF BONE 3 		0.800 GeneticVariation UNIPROT Familial Paget's disease in The Netherlands: occurrence, identification of new mutations in the sequestosome 1 gene, and their clinical associations. 15146436 2004
dbSNP: rs104893941
rs104893941
Entrez Id: 8878;51149
Gene Symbol: SQSTM1;MRNIP
SQSTM1;MRNIP
CUI: C4085252
Disease:
PAGET DISEASE OF BONE 3 		0.800 GeneticVariation UNIPROT Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: genotype phenotype correlation, functional analysis, and structural consequences. 15176995 2004