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 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 GeneticVariation disease UNIPROT 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 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 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 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 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 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 [Familial Alzheimer's disease with presenilin 2 N141I mutation. A case report]. 18833506 2008