Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 Biomarker GENOMICS_ENGLAND Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation. 28664294

2017
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 Biomarker GENOMICS_ENGLAND Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. 26539891

2015
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 Biomarker GENOMICS_ENGLAND The genetics of Alzheimer disease. 23028126

2012
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 Biomarker GENOMICS_ENGLAND Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients. 22503161

2012
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 Biomarker CTD_human M146L mutant PS-1 may predispose to both Pick's disease and AD by affecting multiple intracellular pathways involving tau phosphorylation and amyloid metabolism. 15622541

2005
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 Biomarker CTD_human A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques. 15122701

2004
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation UNIPROT A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques. 15122701

2004
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 Biomarker GENOMICS_ENGLAND