PSEN2, presenilin 2, 5664

N. diseases: 146; N. variants: 32
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150958
Disease: Cardiomyopathy, Dilated, 1V
Cardiomyopathy, Dilated, 1V
0.700 GeneticVariation disease UNIPROT Mutations of presenilin genes in dilated cardiomyopathy and heart failure. 17186461 2006
CUI: C3150958
Disease: Cardiomyopathy, Dilated, 1V
Cardiomyopathy, Dilated, 1V
0.700 CausalMutation disease CLINVAR
CUI: C3150958
Disease: Cardiomyopathy, Dilated, 1V
Cardiomyopathy, Dilated, 1V
0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3150958
Disease: Cardiomyopathy, Dilated, 1V
Cardiomyopathy, Dilated, 1V
0.700 Biomarker disease CTD_human
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 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 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 GeneticVariation disease UNIPROT Novel mutation in the PSEN2 gene (N141Y) associated with early-onset autosomal dominant Alzheimer's disease in a Chinese Han family. 24838186 2014
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 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 GeneticVariation disease UNIPROT Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients. 22503161 2012
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 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 GeneticVariation disease UNIPROT Presenilin 2 modulates endoplasmic reticulum (ER)-mitochondria interactions and Ca2+ cross-talk. 21285369 2011
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4
0.600 GeneticVariation disease UNIPROT Presenilin 2 mutation R71W in an Italian early-onset sporadic Alzheimer's disease case. 21544564 2011
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 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 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 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 with presenilin 2 N141I mutation. A case report]. 18833506 2008
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 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 GeneticVariation disease UNIPROT Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Abeta42 and decreased Abeta40. 16752394 2006
CUI: C1847200
Disease: ALZHEIMER DISEASE 4
ALZHEIMER DISEASE 4
0.600 GeneticVariation disease UNIPROT Presenilins form ER Ca2+ leak channels, a function disrupted by familial Alzheimer's disease-linked mutations. 16959576 2006