PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Alzheimer disease, familial, type 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750082
rs63750082
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		C 0.800 CausalMutation CLINVAR A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families. 11710891 2001
dbSNP: rs63750082
rs63750082
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		C 0.800 CausalMutation CLINVAR Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. 11524469 2001
dbSNP: rs63750082
rs63750082
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		0.800 GeneticVariation UNIPROT Missense mutation in exon 11 (Codon 378) of the presenilin-1 gene in a French family with early-onset Alzheimer's disease and transmission study by mismatch enhanced allele specific amplification. Mutations in brief no. 141. Online. besancon@rockefeller1.univ.lyon1.fr. 10200054 1998
dbSNP: rs63750082
rs63750082
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		0.800 GeneticVariation UNIPROT A novel Leu171Pro mutation in presenilin-1 gene in a Mexican family with early onset Alzheimer disease. 9833068 1998
dbSNP: rs63750082
rs63750082
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		0.800 GeneticVariation UNIPROT De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases. French Alzheimer's Disease Study Group. 9719376 1998
dbSNP: rs63750082
rs63750082
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		0.800 GeneticVariation UNIPROT The E280A presenilin 1 Alzheimer mutation produces increased A beta 42 deposition and severe cerebellar pathology. 8837617 1996
dbSNP: rs63750082
rs63750082
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C1843013
Disease:
Alzheimer disease, familial, type 3 		0.800 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