Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51149
Gene Symbol: MRNIP
MRNIP
CUI: C4225326
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.100 GeneticVariation CLINVAR Detection of SQSTM1/P392L post-zygotic mutations in Paget's disease of bone. 25241215

2015
Entrez Id: 51149
Gene Symbol: MRNIP
MRNIP
CUI: C4225326
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.100 GeneticVariation 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
Entrez Id: 51149
Gene Symbol: MRNIP
MRNIP
CUI: C4225326
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.100 GeneticVariation CLINVAR Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration. 24899140

2014
Entrez Id: 51149
Gene Symbol: MRNIP
MRNIP
CUI: C4225326
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.100 GeneticVariation CLINVAR Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology. 23417734

2013
Entrez Id: 51149
Gene Symbol: MRNIP
MRNIP
CUI: C4225326
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.100 GeneticVariation CLINVAR SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis. 24042580

2013
Entrez Id: 51149
Gene Symbol: MRNIP
MRNIP
CUI: C4225326
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.100 GeneticVariation 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
Entrez Id: 51149
Gene Symbol: MRNIP
MRNIP
CUI: C4225326
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.100 GeneticVariation CLINVAR Contributions of the measles virus nucleocapsid gene and the SQSTM1/p62(P392L) mutation to Paget's disease. 21195346

2011
Entrez Id: 51149
Gene Symbol: MRNIP
MRNIP
CUI: C4225326
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.100 GeneticVariation CLINVAR The p62 P392L mutation linked to Paget's disease induces activation of human osteoclasts. 19589897

2009
Entrez Id: 51149
Gene Symbol: MRNIP
MRNIP
CUI: C4225326
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.100 GeneticVariation CLINVAR A SQSTM1/p62 mutation linked to Paget's disease increases the osteoclastogenic potential of the bone microenvironment. 18765443

2008
Entrez Id: 51149
Gene Symbol: MRNIP
MRNIP
CUI: C4225326
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.100 GeneticVariation CLINVAR Structural and functional studies of mutations affecting the UBA domain of SQSTM1 (p62) which cause Paget's disease of bone. 15493999

2004
Entrez Id: 51149
Gene Symbol: MRNIP
MRNIP
CUI: C4225326
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.100 GeneticVariation CLINVAR Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone. 11992264

2002
Entrez Id: 51149
Gene Symbol: MRNIP
MRNIP
CUI: C4225326
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 		0.100 CausalMutation CLINVAR