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 CausalMutation disease CLINVAR Presenilin 2 familial Alzheimer's disease mutations result in partial loss of function and dramatic changes in Abeta 42/40 ratios. 15663477 2005
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4 		0.600 CausalMutation disease CLINVAR 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 CausalMutation disease CLINVAR Presenilin-2 mutation causes early amyloid accumulation and memory impairment in a transgenic mouse model of Alzheimer's disease. 21234330 2011
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4 		0.600 CausalMutation disease CLINVAR Three-year follow-up of a patient with early-onset Alzheimer's disease with presenilin-2 N141I mutation - case report and review of the literature. 19073399 2008
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 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 CausalMutation disease CLINVAR Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes. 20634584 2010
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 The N141I mutation in PSEN2: implications for the quintessential case of Alzheimer disease. 20457965 2010
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 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 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 CausalMutation disease CLINVAR MOCA is an integrator of the neuronal death signals that are activated by familial Alzheimer's disease-related mutants of amyloid β precursor protein and presenilins. 22115042 2012
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4 		0.600 CausalMutation disease CLINVAR Lewy body pathology in familial Alzheimer disease: evidence for disease- and mutation-specific pathologic phenotype. 16533963 2006
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 CausalMutation disease CLINVAR [Familial Alzheimer's disease with presenilin 2 N141I mutation. A case report]. 18833506 2008
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4 		0.600 CausalMutation disease CLINVAR Symptom onset in autosomal dominant Alzheimer disease: a systematic review and meta-analysis. 24928124 2014
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4 		0.600 CausalMutation disease CLINVAR Mutant presenilin 2 increases β-secretase activity through reactive oxygen species-dependent activation of extracellular signal-regulated kinase. 22249458 2012
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4 		0.600 CausalMutation disease CLINVAR Identification of PSEN2 mutation p.N141I in Argentine pedigrees with early-onset familial Alzheimer's disease. 26166204 2015
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4 		0.600 Biomarker disease CTD_human
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