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: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.010 GeneticVariation phenotype BEFREE We describe an Italian patient with a novel PSEN2 mutation (Y231C) who showed behavioral abnormalities and language impairment as presenting symptoms, with later involvement of other cognitive abilities, particularly of posterior functions. 19276543 2009
CUI: C4021087
Disease: Abnormal social behavior
Abnormal social behavior 		0.100 Biomarker phenotype HPO
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		0.100 Biomarker disease HPO
CUI: C0546126
Disease: Acute Confusional Senile Dementia
Acute Confusional Senile Dementia 		0.300 Biomarker disease CTD_human A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease. 12925374 2003
CUI: C0546126
Disease: Acute Confusional Senile Dementia
Acute Confusional Senile Dementia 		0.300 Biomarker disease CTD_human Beta-amyloid mediated nitration of manganese superoxide dismutase: implication for oxidative stress in a APPNLH/NLH X PS-1P264L/P264L double knock-in mouse model of Alzheimer's disease. 16651627 2006
CUI: C0546126
Disease: Acute Confusional Senile Dementia
Acute Confusional Senile Dementia 		0.300 Biomarker disease CTD_human 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: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.020 AlteredExpression group BEFREE RNA blot hybridization analysis revealed that pS2 gene was expressed well in two (MKN-45 and KATO-III; derived from poorly differentiated adenocarcinoma) but not in three cell lines (MKN-1, MKN-28 and MKN-74; from well differentiated adenocarcinoma), suggesting that expression of the pS2 gene depends on the state of cell differentiation. 2311759 1990
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.020 AlteredExpression group LHGDN Tumor-associated neoexpression of the pS2 peptide and MUC5AC mucin in primary adenocarcinomas and signet ring cell carcinomas of the urinary bladder. 18283638 2008
CUI: C0085631
Disease: Agitation
Agitation 		0.100 Biomarker phenotype HPO
CUI: C1963060
Disease: Agitation, CTCAE 3.0
Agitation, CTCAE 3.0 		0.100 Biomarker phenotype HPO
CUI: C4552855
Disease: Agitation, CTCAE 5.0
Agitation, CTCAE 5.0 		0.100 Biomarker phenotype HPO
CUI: C3810041
Disease: ALZHEIMER DISEASE 18
ALZHEIMER DISEASE 18 		0.010 GeneticVariation disease BEFREE A blind study was set up to examine the in vitro growth characteristics of skin fibroblasts from 2 individuals with and 9 at risk for familial Alzheimer disease, 4 individuals with sporadic Alzheimer disease, 18 with Down syndrome as well as 5 younger and 6 older controls. 2139155 1990
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 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 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 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 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 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 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 Biomarker disease CTD_human
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
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