PSEN2, presenilin 2, 5664

N. diseases: 146; N. variants: 32
Disease: ALZHEIMER DISEASE 4 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 CausalMutation disease CLINVAR The presenilin 2 mutation (N141I) linked to familial Alzheimer disease (Volga German families) increases the secretion of amyloid beta protein ending at the 42nd (or 43rd) residue. 9050898 1997
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4 		0.600 CausalMutation disease CLINVAR Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid beta-protein in both transfected cells and transgenic mice. 8986743 1997
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 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 CausalMutation disease CLINVAR 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 CausalMutation disease CLINVAR Candidate gene for the chromosome 1 familial Alzheimer's disease locus. 7638622 1995
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4 		0.600 Biomarker disease CTD_human