PSEN2, presenilin 2, 5664

N. diseases: 146; N. variants: 32
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150958
Disease: Cardiomyopathy, Dilated, 1V
Cardiomyopathy, Dilated, 1V 		0.700 GeneticVariation disease UNIPROT Mutations of presenilin genes in dilated cardiomyopathy and heart failure. 17186461 2006
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4 		0.600 GeneticVariation disease UNIPROT Candidate gene for the chromosome 1 familial Alzheimer's disease locus. 7638622 1995
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4 		0.600 GeneticVariation disease UNIPROT Previously unrecognized missense mutation E126K of PSEN2 segregates with early onset Alzheimer's disease in a family. 24844686 2014
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4 		0.600 GeneticVariation disease UNIPROT High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes. 10631141 2000
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4 		0.600 GeneticVariation disease UNIPROT Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. 7651536 1995
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4 		0.600 GeneticVariation disease UNIPROT A novel mutation in the predicted TM2 domain of the presenilin 2 gene in a Spanish patient with late-onset Alzheimer's disease. 10732806 1998
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4 		0.600 GeneticVariation disease CLINVAR Molecular signatures of neurodegeneration in the cortex of PS1/PS2 double knockout mice. 18834536 2008
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4 		0.600 GeneticVariation disease CLINVAR Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2. 20375137 2010
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4 		0.600 GeneticVariation disease UNIPROT Presenilin 2 modulates endoplasmic reticulum (ER)-mitochondria interactions and Ca2+ cross-talk. 21285369 2011
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4 		0.600 GeneticVariation disease CLINVAR Novel presenilin mutations within Moroccan patients with Early-Onset Alzheimer's Disease. 24704512 2014
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4 		0.600 GeneticVariation disease UNIPROT Novel mutation in the PSEN2 gene (N141Y) associated with early-onset autosomal dominant Alzheimer's disease in a Chinese Han family. 24838186 2014
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4 		0.600 GeneticVariation disease UNIPROT Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease. 9384602 1998
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4 		0.600 GeneticVariation disease UNIPROT Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Abeta42 and decreased Abeta40. 16752394 2006
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4 		0.600 GeneticVariation disease UNIPROT Atypical dementia associated with a novel presenilin-2 mutation. 14681895 2003
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4 		0.600 GeneticVariation disease UNIPROT Presenilins form ER Ca2+ leak channels, a function disrupted by familial Alzheimer's disease-linked mutations. 16959576 2006
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4 		0.600 GeneticVariation disease UNIPROT Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients. 22503161 2012
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4 		0.600 GeneticVariation disease UNIPROT Presenilin 2 mutation R71W in an Italian early-onset sporadic Alzheimer's disease case. 21544564 2011
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 GeneticVariation disease BEFREE Novel mutation in the PSEN2 gene (N141Y) associated with early-onset autosomal dominant Alzheimer's disease in a Chinese Han family. 24838186 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 GeneticVariation disease BEFREE Linkage analyses have implicated several genes as causes or risk factors for Alzheimer's disease in different families: the amyloid precursor protein gene, the apolipoprotein-E gene (E4 subtype) on chromosome 19, the S182 gene on chromosome 14 and the STM2 gene on chromosome 1. 8961669 1996
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 GeneticVariation disease LHGDN Presenilin 2 familial Alzheimer's disease mutations result in partial loss of function and dramatic changes in Abeta 42/40 ratios. 15663477 2005
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 GeneticVariation disease BEFREE Mutations in three genes (APP, PSEN1, and PSEN2) have been found to cause AD and APOE4 allele increases the risk of the disease. 18369390 2008
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 GeneticVariation disease LHGDN Presenilin mutations linked to familial Alzheimer's disease reduce endoplasmic reticulum and Golgi apparatus calcium levels. 16620965 2006
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 GeneticVariation disease LHGDN Presenilin 2 Ser130Leu mutation in a case of late-onset "sporadic" Alzheimer's disease. 17345043 2007
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 GeneticVariation disease BEFREE Increased apoptosis arising from increased expression of the Alzheimer's disease-associated presenilin-2 mutation (N141I). 9334350 1997
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 GeneticVariation disease BEFREE Alzheimer's disease-linked mutation of presenilin 2 (N141I-PS2) drastically lowers APPalpha secretion: control by the proteasome. 9813158 1998