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: rs140501902
rs140501902
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
dbSNP: rs140501902
rs140501902
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 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
dbSNP: rs61761208
rs61761208
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C1847200
Disease:
ALZHEIMER DISEASE 4 		0.700 GeneticVariation UNIPROT
dbSNP: rs63750048
rs63750048
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C1847200
Disease:
ALZHEIMER DISEASE 4 		T 0.700 CausalMutation CLINVAR
dbSNP: rs63750666
rs63750666
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C1847200
Disease:
ALZHEIMER DISEASE 4 		T 0.700 CausalMutation CLINVAR
dbSNP: rs63750812
rs63750812
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C1847200
Disease:
ALZHEIMER DISEASE 4 		0.700 GeneticVariation UNIPROT
dbSNP: rs63750215
rs63750215
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C1847200
Disease:
ALZHEIMER DISEASE 4 		T 0.800 CausalMutation CLINVAR Identification of PSEN2 mutation p.N141I in Argentine pedigrees with early-onset familial Alzheimer's disease. 26166204 2015
dbSNP: rs28936379
rs28936379
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C1847200
Disease:
ALZHEIMER DISEASE 4 		0.800 GeneticVariation UNIPROT Previously unrecognized missense mutation E126K of PSEN2 segregates with early onset Alzheimer's disease in a family. 24844686 2014
dbSNP: rs28936379
rs28936379
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C1847200
Disease:
ALZHEIMER DISEASE 4 		0.800 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: rs28936379
rs28936379
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C1847200
Disease:
ALZHEIMER DISEASE 4 		0.800 GeneticVariation UNIPROT Fourth Canadian Consensus Conference on the Diagnosis and Treatment of Dementia: recommendations for family physicians. 24829003 2014
dbSNP: rs28936380
rs28936380
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C1847200
Disease:
ALZHEIMER DISEASE 4 		0.800 GeneticVariation UNIPROT Previously unrecognized missense mutation E126K of PSEN2 segregates with early onset Alzheimer's disease in a family. 24844686 2014
dbSNP: rs28936380
rs28936380
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C1847200
Disease:
ALZHEIMER DISEASE 4 		0.800 GeneticVariation UNIPROT Fourth Canadian Consensus Conference on the Diagnosis and Treatment of Dementia: recommendations for family physicians. 24829003 2014
dbSNP: rs28936380
rs28936380
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C1847200
Disease:
ALZHEIMER DISEASE 4 		0.800 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: rs63750197
rs63750197
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C1847200
Disease:
ALZHEIMER DISEASE 4 		0.800 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: rs63750197
rs63750197
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C1847200
Disease:
ALZHEIMER DISEASE 4 		0.800 GeneticVariation UNIPROT Previously unrecognized missense mutation E126K of PSEN2 segregates with early onset Alzheimer's disease in a family. 24844686 2014
dbSNP: rs63750215
rs63750215
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C1847200
Disease:
ALZHEIMER DISEASE 4 		0.800 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: rs63750215
rs63750215
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C1847200
Disease:
ALZHEIMER DISEASE 4 		T 0.800 CausalMutation CLINVAR Symptom onset in autosomal dominant Alzheimer disease: a systematic review and meta-analysis. 24928124 2014
dbSNP: rs63750215
rs63750215
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C1847200
Disease:
ALZHEIMER DISEASE 4 		0.800 GeneticVariation UNIPROT Previously unrecognized missense mutation E126K of PSEN2 segregates with early onset Alzheimer's disease in a family. 24844686 2014
dbSNP: rs28936379
rs28936379
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C1847200
Disease:
ALZHEIMER DISEASE 4 		0.800 GeneticVariation UNIPROT Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients. 22503161 2012
dbSNP: rs28936380
rs28936380
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C1847200
Disease:
ALZHEIMER DISEASE 4 		0.800 GeneticVariation UNIPROT Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients. 22503161 2012
dbSNP: rs63750197
rs63750197
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C1847200
Disease:
ALZHEIMER DISEASE 4 		0.800 GeneticVariation UNIPROT Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients. 22503161 2012
dbSNP: rs63750215
rs63750215
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C1847200
Disease:
ALZHEIMER DISEASE 4 		T 0.800 CausalMutation CLINVAR Mutant presenilin 2 increases β-secretase activity through reactive oxygen species-dependent activation of extracellular signal-regulated kinase. 22249458 2012
dbSNP: rs63750215
rs63750215
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C1847200
Disease:
ALZHEIMER DISEASE 4 		0.800 GeneticVariation UNIPROT Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients. 22503161 2012