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: 4137
Gene Symbol: MAPT
MAPT
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation UNIPROT Mutations in the tau gene cause familial frontotemporal dementia and parkinsonism linked to chromosome 17. 11891833

2002
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation UNIPROT Pick's disease associated with the novel Tau gene mutation K369I. 11601501

2001
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 Biomarker CTD_human Pick's disease associated with the novel Tau gene mutation K369I. 11601501

2001
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation UNIPROT Tau gene mutation K257T causes a tauopathy similar to Pick's disease. 11089577

2000
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 Biomarker CTD_human This is in contrast to Pick's disease without any tau gene mutations, which consist of tau with mainly three microtubule-binding domains and only a trace of tau, with four microtubule-binding domains. 11117542

2000
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation UNIPROT This is in contrast to Pick's disease without any tau gene mutations, which consist of tau with mainly three microtubule-binding domains and only a trace of tau, with four microtubule-binding domains. 11117542

2000
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 GeneticVariation UNIPROT Tau gene mutation G389R causes a tauopathy with abundant pick body-like inclusions and axonal deposits. 10604746

1999
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 Biomarker CTD_human Tau gene mutation G389R causes a tauopathy with abundant pick body-like inclusions and axonal deposits. 10604746

1999
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 Biomarker CTD_human Thirteen families have been described with an autosomal dominantly inherited dementia named frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), historically termed Pick's disease. 9641683

1998
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

Entrez Id: 4137
Gene Symbol: MAPT
MAPT
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.800 Biomarker GENOMICS_ENGLAND