Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
0.080 AlteredExpression disease BEFREE Additionally, causal relationships have been found between errors in regulation of SQSTM1/p62 and the development of a variety of neurodegenerative disorders, including Alzheimer's, Parkinson's, Huntington's, amyotrophic lateral sclerosis, and frontotemporal lobar degeneration. 30657305 2019
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
0.080 Biomarker disease BEFREE The multifunctional protein p62 is associated with neuropathological inclusions in several neurodegenerative disorders, including frontotemporal lobar degeneration, amyotrophic lateral sclerosis and Alzheimer's disease (AD). 27573878 2017
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
0.080 Biomarker disease BEFREE p62/SQSTM1 analysis in frontotemporal lobar degeneration. 25433461 2015
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
0.080 GeneticVariation disease BEFREE Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration. 24899140 2014
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
0.080 Biomarker disease BEFREE Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72. 24252525 2013
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
0.080 GeneticVariation disease BEFREE SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. 22972638 2012
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
0.080 Biomarker disease BEFREE Here we immunoprecipitated endogenous p62 in the cerebral cortex from patients with frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) and found that p62 coimmunoprecipitated several proteins, including TDP-43, which is a major disease protein in FTLD-TDP. 22674379 2012
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
0.080 Biomarker disease BEFREE Neuropathological examination in six cases with C9ORF72 mutation from the frontotemporal lobar degeneration series identified histomorphological features consistent with either type A or B TAR DNA-binding protein-43 deposition; however, p62-positive (in excess of TAR DNA-binding protein-43 positive) neuronal cytoplasmic inclusions in hippocampus and cerebellum were a consistent feature of these cases, in contrast to the similar frequency of p62 and TAR DNA-binding protein-43 deposition in 53 control cases with frontotemporal lobar degeneration-TAR DNA-binding protein. 22366791 2012