PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Alzheimer's Disease, Focal Onset ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0750900
Disease: Alzheimer's Disease, Focal Onset
Alzheimer's Disease, Focal Onset 		0.300 Biomarker disease CTD_human Oral administration of methysticin improves cognitive deficits in a mouse model of Alzheimer's disease. 28448946 2017
CUI: C0750900
Disease: Alzheimer's Disease, Focal Onset
Alzheimer's Disease, Focal Onset 		0.300 Biomarker disease CTD_human The BET-Bromodomain Inhibitor JQ1 Reduces Inflammation and Tau Phosphorylation at Ser396 in the Brain of the 3xTg Model of Alzheimer's Disease. 27117003 2016
CUI: C0750900
Disease: Alzheimer's Disease, Focal Onset
Alzheimer's Disease, Focal Onset 		0.300 Biomarker disease CTD_human Identification of the key molecules involved in chronic copper exposure-aggravated memory impairment in transgenic mice of Alzheimer's disease using proteomic analysis. 25352456 2015
CUI: C0750900
Disease: Alzheimer's Disease, Focal Onset
Alzheimer's Disease, Focal Onset 		0.300 Biomarker disease CTD_human Protective Effect of Notoginsenoside R1 on an APP/PS1 Mouse Model of Alzheimer's Disease by Up-Regulating Insulin Degrading Enzyme and Inhibiting Aβ Accumulation. 25714973 2015
CUI: C0750900
Disease: Alzheimer's Disease, Focal Onset
Alzheimer's Disease, Focal Onset 		0.300 Biomarker disease CTD_human APP/PS1 transgenic mice treated with aluminum: an update of Alzheimer's disease model. 22507317 2012
CUI: C0750900
Disease: Alzheimer's Disease, Focal Onset
Alzheimer's Disease, Focal Onset 		0.300 Biomarker disease CTD_human A presenilin-1 mutation renders neurons vulnerable to isoflurane toxicity. 18227305 2008
CUI: C0750900
Disease: Alzheimer's Disease, Focal Onset
Alzheimer's Disease, Focal Onset 		0.300 Biomarker disease CTD_human Generation of Abeta38 and Abeta42 is independently and differentially affected by familial Alzheimer disease-associated presenilin mutations and gamma-secretase modulation. 17962197 2008
CUI: C0750900
Disease: Alzheimer's Disease, Focal Onset
Alzheimer's Disease, Focal Onset 		0.300 Biomarker disease CTD_human Insensitivity to Abeta42-lowering nonsteroidal anti-inflammatory drugs and gamma-secretase inhibitors is common among aggressive presenilin-1 mutations. 17573346 2007
CUI: C0750900
Disease: Alzheimer's Disease, Focal Onset
Alzheimer's Disease, Focal Onset 		0.300 Biomarker disease CTD_human Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database. 17192785 2007
CUI: C0750900
Disease: Alzheimer's Disease, Focal Onset
Alzheimer's Disease, Focal Onset 		0.300 Biomarker disease CTD_human Phospholipase D1 corrects impaired betaAPP trafficking and neurite outgrowth in familial Alzheimer's disease-linked presenilin-1 mutant neurons. 16449385 2006
CUI: C0750900
Disease: Alzheimer's Disease, Focal Onset
Alzheimer's Disease, Focal Onset 		0.300 Biomarker disease CTD_human Beta-amyloid mediated nitration of manganese superoxide dismutase: implication for oxidative stress in a APPNLH/NLH X PS-1P264L/P264L double knock-in mouse model of Alzheimer's disease. 16651627 2006
CUI: C0750900
Disease: Alzheimer's Disease, Focal Onset
Alzheimer's Disease, Focal Onset 		0.300 Biomarker disease CTD_human Pick bodies in a family with presenilin-1 Alzheimer's disease. 15622541 2005
CUI: C0750900
Disease: Alzheimer's Disease, Focal Onset
Alzheimer's Disease, Focal Onset 		0.300 Biomarker disease CTD_human Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. 7596406 1995