Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
0.600 GeneticVariation disease UNIPROT A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation. 25114083 2015
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
0.600 GeneticVariation disease CLINVAR Detection of SQSTM1/P392L post-zygotic mutations in Paget's disease of bone. 25241215 2015
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
0.600 GeneticVariation disease CLINVAR Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration. 24899140 2014
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
0.600 GeneticVariation disease UNIPROT Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration. 24899140 2014
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
0.600 GeneticVariation disease 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
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
0.600 GeneticVariation disease CLINVAR Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology. 23417734 2013
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
0.600 GeneticVariation disease CLINVAR SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis. 24042580 2013
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
0.600 GeneticVariation disease UNIPROT SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis. 24042580 2013
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
0.600 GeneticVariation disease 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
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
0.600 GeneticVariation disease CLINVAR Contributions of the measles virus nucleocapsid gene and the SQSTM1/p62(P392L) mutation to Paget's disease. 21195346 2011
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
0.600 GeneticVariation disease UNIPROT SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis. 22084127 2011
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
0.600 GeneticVariation disease CLINVAR The p62 P392L mutation linked to Paget's disease induces activation of human osteoclasts. 19589897 2009
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
0.600 GeneticVariation disease CLINVAR A SQSTM1/p62 mutation linked to Paget's disease increases the osteoclastogenic potential of the bone microenvironment. 18765443 2008
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
0.600 GeneticVariation disease CLINVAR Structural and functional studies of mutations affecting the UBA domain of SQSTM1 (p62) which cause Paget's disease of bone. 15493999 2004
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
0.600 GeneticVariation disease CLINVAR Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone. 11992264 2002
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
0.600 CausalMutation disease CLINVAR
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
0.600 Biomarker disease CTD_human