PSEN2, presenilin 2, 5664

N. diseases: 146; N. variants: 32
Disease: Alzheimer's Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs533813519
rs533813519
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0002395
Disease:
Alzheimer's Disease 		0.030 GeneticVariation BEFREE PSEN1 p.L226R was found in an early-onset AD (EOAD) family characterized by language impairment at disease onset, a novel probably pathogenetic variant (p.D534H) was identified in a frontal-temporal dementia gene, TANK-binding kinase 1 (TBK1) with a typical AD phenotype in a late-onset AD (LOAD) family, and a PSEN2p.H169N mutation and two benign MAPT (p.Q230R and p.V48L) mutations were detected in three EOAD patients. 30549411 2019
dbSNP: rs533813519
rs533813519
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0002395
Disease:
Alzheimer's Disease 		0.030 GeneticVariation BEFREE These findings revealed that the p.His169Asn might be an important residue in PSEN2, which may alter the functions of PSEN2, suggesting its potential involvement with AD phenotype. 30104866 2018
dbSNP: rs533813519
rs533813519
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0002395
Disease:
Alzheimer's Disease 		0.030 GeneticVariation BEFREE The novel mutation PSEN2 (p.His169Asn, c.505C>A) was identified in 1 patient with familial late-onset AD and in 1 sporadic FTD patient. 25323700 2015