PSEN2, presenilin 2, 5664

N. diseases: 146; N. variants: 32
Disease: ALZHEIMER DISEASE 4 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs58973334
rs58973334
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C1847200
Disease:
ALZHEIMER DISEASE 4 		0.700 GeneticVariation UNIPROT Previously unrecognized missense mutation E126K of PSEN2 segregates with early onset Alzheimer's disease in a family. 24844686 2014
dbSNP: rs58973334
rs58973334
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C1847200
Disease:
ALZHEIMER DISEASE 4 		0.700 GeneticVariation UNIPROT Novel mutation in the PSEN2 gene (N141Y) associated with early-onset autosomal dominant Alzheimer's disease in a Chinese Han family. 24838186 2014
dbSNP: rs58973334
rs58973334
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C1847200
Disease:
ALZHEIMER DISEASE 4 		0.700 GeneticVariation UNIPROT Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients. 22503161 2012
dbSNP: rs58973334
rs58973334
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C1847200
Disease:
ALZHEIMER DISEASE 4 		0.700 GeneticVariation UNIPROT Presenilin 2 mutation R71W in an Italian early-onset sporadic Alzheimer's disease case. 21544564 2011
dbSNP: rs58973334
rs58973334
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C1847200
Disease:
ALZHEIMER DISEASE 4 		0.700 GeneticVariation UNIPROT Presenilin 2 modulates endoplasmic reticulum (ER)-mitochondria interactions and Ca2+ cross-talk. 21285369 2011
dbSNP: rs58973334
rs58973334
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C1847200
Disease:
ALZHEIMER DISEASE 4 		0.700 GeneticVariation UNIPROT Presenilins form ER Ca2+ leak channels, a function disrupted by familial Alzheimer's disease-linked mutations. 16959576 2006
dbSNP: rs58973334
rs58973334
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C1847200
Disease:
ALZHEIMER DISEASE 4 		0.700 GeneticVariation UNIPROT Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Abeta42 and decreased Abeta40. 16752394 2006
dbSNP: rs58973334
rs58973334
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C1847200
Disease:
ALZHEIMER DISEASE 4 		0.700 GeneticVariation UNIPROT Atypical dementia associated with a novel presenilin-2 mutation. 14681895 2003
dbSNP: rs58973334
rs58973334
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C1847200
Disease:
ALZHEIMER DISEASE 4 		0.700 GeneticVariation UNIPROT High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes. 10631141 2000
dbSNP: rs58973334
rs58973334
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C1847200
Disease:
ALZHEIMER DISEASE 4 		0.700 GeneticVariation UNIPROT Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease. 9384602 1998
dbSNP: rs58973334
rs58973334
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C1847200
Disease:
ALZHEIMER DISEASE 4 		0.700 GeneticVariation 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
dbSNP: rs58973334
rs58973334
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C1847200
Disease:
ALZHEIMER DISEASE 4 		0.700 GeneticVariation UNIPROT Candidate gene for the chromosome 1 familial Alzheimer's disease locus. 7638622 1995
dbSNP: rs58973334
rs58973334
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C1847200
Disease:
ALZHEIMER DISEASE 4 		0.700 GeneticVariation 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