APP, amyloid beta precursor protein, 351

N. diseases: 485; N. variants: 114
Disease: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750579
rs63750579
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C2751536
Disease:
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED 		0.800 GeneticVariation UNIPROT Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP. 20697050 2010
dbSNP: rs63750579
rs63750579
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C2751536
Disease:
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED 		0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421 2010
dbSNP: rs63750579
rs63750579
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C2751536
Disease:
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED 		0.800 GeneticVariation UNIPROT A novel AbetaPP mutation exclusively associated with cerebral amyloid angiopathy. 16178030 2005
dbSNP: rs63750579
rs63750579
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C2751536
Disease:
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED 		0.800 GeneticVariation UNIPROT Hemorrhagic stroke associated with the Iowa amyloid precursor protein mutation. 12654973 2003
dbSNP: rs63750579
rs63750579
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C2751536
Disease:
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED 		0.800 GeneticVariation UNIPROT Novel amyloid precursor protein mutation in an Iowa family with dementia and severe cerebral amyloid angiopathy. 11409420 2001
dbSNP: rs63750579
rs63750579
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C2751536
Disease:
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED 		0.800 GeneticVariation UNIPROT Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type. 2111584 1990
dbSNP: rs63750579
rs63750579
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C2751536
Disease:
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED 		T 0.800 CausalMutation CLINVAR
dbSNP: rs63750579
rs63750579
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C2751536
Disease:
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED 		G 0.800 CausalMutation CLINVAR