SQSTM1, sequestosome 1, 8878

N. diseases: 470; N. variants: 43
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: C4225326
Disease:
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
dbSNP: rs104893941
rs104893941
Entrez Id: 8878;51149
Gene Symbol: SQSTM1;MRNIP
SQSTM1;MRNIP
CUI: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		T 0.800 GeneticVariation CLINVAR Detection of SQSTM1/P392L post-zygotic mutations in Paget's disease of bone. 25241215 2015
dbSNP: rs776749939
rs776749939
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C4225326
Disease:
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
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: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 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: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 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: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.800 GeneticVariation UNIPROT 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 Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration. 24899140 2014
dbSNP: rs776749939
rs776749939
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.800 GeneticVariation UNIPROT 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: C4225326
Disease:
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
dbSNP: rs104893941
rs104893941
Entrez Id: 8878;51149
Gene Symbol: SQSTM1;MRNIP
SQSTM1;MRNIP
CUI: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 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 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: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		T 0.800 GeneticVariation CLINVAR Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology. 23417734 2013
dbSNP: rs72807343
rs72807343
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C0002395
Disease:
Alzheimer's Disease 		T 0.800 GeneticVariation GWASCAT Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. 24162737 2013
dbSNP: rs72807343
rs72807343
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C0002395
Disease:
Alzheimer's Disease 		T 0.800 GeneticVariation GWASDB Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. 24162737 2013
dbSNP: rs776749939
rs776749939
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C4225326
Disease:
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
dbSNP: rs104893941
rs104893941
Entrez Id: 8878;51149
Gene Symbol: SQSTM1;MRNIP
SQSTM1;MRNIP
CUI: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 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 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: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.800 GeneticVariation UNIPROT SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis. 22084127 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: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 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