PSEN2, presenilin 2, 5664

N. diseases: 146; N. variants: 32
Disease: Language Disorders ×
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: C0023015
Disease:
Language Disorders 		0.010 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: rs200754713
rs200754713
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0023015
Disease:
Language Disorders 		0.010 GeneticVariation 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
dbSNP: rs142690225
rs142690225
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C0023015
Disease:
Language Disorders 		0.010 GeneticVariation BEFREE A novel presenilin 2 mutation (V393M) in early-onset dementia with profound language impairment. 18727676 2008