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: rs201263163
rs201263163
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: rs201263163
rs201263163
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.700 GeneticVariation UNIPROT Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration. 24899140 2014
dbSNP: rs201263163
rs201263163
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.700 GeneticVariation UNIPROT SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis. 24042580 2013
dbSNP: rs201263163
rs201263163
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
CUI: C4225326
Disease:
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.700 GeneticVariation UNIPROT SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis. 22084127 2011