SQSTM1, sequestosome 1, 8878

N. diseases: 470; N. variants: 43
Disease: PAGET DISEASE OF BONE 2, EARLY-ONSET ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4085251
Disease: PAGET DISEASE OF BONE 2, EARLY-ONSET
PAGET DISEASE OF BONE 2, EARLY-ONSET 		0.100 CausalMutation disease CLINVAR Targeted next-generation sequencing assay for detection of mutations in primary myopathies. 26627873 2016
CUI: C4085251
Disease: PAGET DISEASE OF BONE 2, EARLY-ONSET
PAGET DISEASE OF BONE 2, EARLY-ONSET 		0.100 CausalMutation disease CLINVAR SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles. 26208961 2015
CUI: C4085251
Disease: PAGET DISEASE OF BONE 2, EARLY-ONSET
PAGET DISEASE OF BONE 2, EARLY-ONSET 		0.100 CausalMutation disease CLINVAR Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology. 23417734 2013
CUI: C4085251
Disease: PAGET DISEASE OF BONE 2, EARLY-ONSET
PAGET DISEASE OF BONE 2, EARLY-ONSET 		0.100 CausalMutation disease CLINVAR Paget's disease of bone in the French population: novel SQSTM1 mutations, functional analysis, and genotype-phenotype correlations. 17129171 2007
CUI: C4085251
Disease: PAGET DISEASE OF BONE 2, EARLY-ONSET
PAGET DISEASE OF BONE 2, EARLY-ONSET 		0.100 CausalMutation disease CLINVAR Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease. 12374763 2002