Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
0.100 Biomarker disease BEFREE Notably, mutations in the LIR-motif proteins p62 (SQSTM1) and optineurin (OPTN) contribute to familial forms of frontotemporal dementia and amyotrophic lateral sclerosis. 30030024 2019
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
0.100 GeneticVariation disease BEFREE The purpose of this study was to find mutations in the SQSTM1 gene encoding p62 in Japanese patients with amyotrophic lateral sclerosis (ALS), since this gene has been recently identified as a causative gene for familial and sporadic ALS in the United States. 23303844 2013
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
0.100 GeneticVariation disease BEFREE Mutations in SQSTM1 occur in 25-50% of familial PD. 24043712 2013
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
0.100 GeneticVariation disease BEFREE SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis. 22084127 2011
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
0.100 GeneticVariation disease BEFREE The SQSTM1 gene analysis revealed the presence of a novel missense mutation (M401V) in exon 8 in one subject with a familial and aggressive form of PDB. 20061786 2010
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
0.100 GeneticVariation disease BEFREE The disease has a strong genetic predisposition and mutations in SQSTM1 have been associated with familial and sporadic disease in up to 40% of cases. 18359282 2008
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
0.100 GeneticVariation disease BEFREE The most important causal gene for classical PDB is Sequestosome 1 (SQSTM1), which is a scaffold protein in the NF-kappaB signalling pathway, and mutations affecting the UBA (ubiquitin-associated) domain of this protein occur in between 20-50% of familial and 10-20% of sporadic PDB cases. 16104845 2005
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
0.100 GeneticVariation disease BEFREE A positional cloning effort in French Canadian families with Paget's disease of bone (PDB) resulted in the identification of a mutation in the sequestosome1 (SQSTM1) gene in a subset of both familial and sporadic PDB cases. 15164150 2004
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
0.100 GeneticVariation disease BEFREE We conclude that the G1181 allele of TNFRSF11B, encoding lysine at codon 3 of the OPG protein, predisposes to the development of sporadic PDB and familial PDB that is not caused by SQSTM1 mutations. 15312251 2004
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
0.100 GeneticVariation disease BEFREE We conducted mutation screening of positional candidate genes in the PDB3 locus in patients with PDB, and also identified mutations in the gene encoding SQSTM1 as a common cause of familial and sporadic PDB. 12374763 2002