Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs143511494
rs143511494
SQSTM1 ; MRNIP
0.700 GeneticVariation UNIPROT Dimerisation of the UBA domain of p62 inhibits ubiquitin binding and regulates NF-kappaB signalling. 19931284

2010
dbSNP: rs143511494
rs143511494
SQSTM1 ; MRNIP
0.700 GeneticVariation UNIPROT Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: genotype phenotype correlation, functional analysis, and structural consequences. 15176995

2004
dbSNP: rs143511494
rs143511494
SQSTM1 ; MRNIP
0.700 GeneticVariation UNIPROT Two novel mutations at exon 8 of the Sequestosome 1 (SQSTM1) gene in an Italian series of patients affected by Paget's disease of bone (PDB). 15125799

2004
dbSNP: rs143511494
rs143511494
SQSTM1 ; MRNIP
0.700 GeneticVariation UNIPROT Familial Paget's disease in The Netherlands: occurrence, identification of new mutations in the sequestosome 1 gene, and their clinical associations. 15146436

2004
dbSNP: rs143511494
rs143511494
SQSTM1 ; MRNIP
0.700 GeneticVariation UNIPROT Identification of SQSTM1 mutations in familial Paget's disease in Australian pedigrees. 15207768

2004
dbSNP: rs143511494
rs143511494
SQSTM1 ; MRNIP
0.700 GeneticVariation UNIPROT Three novel mutations in SQSTM1 identified in familial Paget's disease of bone. 14584883

2003
dbSNP: rs143511494
rs143511494
SQSTM1 ; MRNIP
0.700 GeneticVariation UNIPROT Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone. 11992264

2002
dbSNP: rs143511494
rs143511494
SQSTM1 ; MRNIP
0.700 GeneticVariation UNIPROT Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease. 12374763

2002