SQSTM1, sequestosome 1, 8878

N. diseases: 470; N. variants: 43
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 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: 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: 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: 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: 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: 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: 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: 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: 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
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 familial and sporadic amyotrophic lateral sclerosis. 22084127 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 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: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 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: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 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: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		T 0.800 GeneticVariation CLINVAR Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone. 11992264 2002
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 CausalMutation CLINVAR
dbSNP: rs776749939
rs776749939
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1225746517
rs1225746517
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.700 GeneticVariation UNIPROT A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation. 25114083 2015
dbSNP: rs140226523
rs140226523
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.700 GeneticVariation UNIPROT A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation. 25114083 2015
dbSNP: rs143511494
rs143511494
Entrez Id: 8878;51149
Gene Symbol: SQSTM1;MRNIP
SQSTM1;MRNIP
CUI: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.700 GeneticVariation UNIPROT A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation. 25114083 2015
dbSNP: rs143956614
rs143956614
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.700 GeneticVariation UNIPROT A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation. 25114083 2015