Source: LHGDN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 GeneticVariation LHGDN Late onset familial Alzheimer's disease: novel presenilin 2 mutation and PS1 E318G polymorphism. 18350357

2008
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 Biomarker LHGDN Three-year follow-up of a patient with early-onset Alzheimer's disease with presenilin-2 N141I mutation - case report and review of the literature. 19073399

2008
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 GeneticVariation LHGDN Presenilin 2 Ser130Leu mutation in a case of late-onset "sporadic" Alzheimer's disease. 17345043

2007
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 GeneticVariation LHGDN Loss-of-function presenilin mutations in Alzheimer disease. Talking Point on the role of presenilin mutations in Alzheimer disease. 17268505

2007
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 Biomarker LHGDN When loss is gain: reduced presenilin proteolytic function leads to increased Abeta42/Abeta40. Talking Point on the role of presenilin mutations in Alzheimer disease. 17268504

2007
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 GeneticVariation LHGDN Presenilin mutations linked to familial Alzheimer's disease reduce endoplasmic reticulum and Golgi apparatus calcium levels. 16620965

2006
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 GeneticVariation LHGDN Presenilin 2 familial Alzheimer's disease mutations result in partial loss of function and dramatic changes in Abeta 42/40 ratios. 15663477

2005
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 GeneticVariation LHGDN Novel mutations and repeated findings of mutations in familial Alzheimer disease. 15776278

2005
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 GeneticVariation LHGDN Reduction of Ca2+ stores and capacitative Ca2+ entry is associated with the familial Alzheimer's disease presenilin-2 T122R mutation and anticipates the onset of dementia. 15755689

2005
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 GeneticVariation LHGDN To describe a novel mutation in the PSEN2 gene associated with early-onset autosomal dominant Alzheimer disease. 12925374

2003