APP, amyloid beta precursor protein, 351

N. diseases: 485; N. variants: 114
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: rs63749810
rs63749810
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		0.720 GeneticVariation BEFREE The reported APP-D694N iPSC line may be used to model and study human AD pathology in vitro. 31004935 2019
dbSNP: rs63749810
rs63749810
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		0.720 GeneticVariation BEFREE In this study we examined circadian behavioral and electrophysiological changes in a mouse model of AD, using male mice from the Tg-SwDI line which expresses human amyloid precursor protein with the familial Swedish (K670N/M671L), Dutch (E693Q), Iowa (D694N) mutations. 29540298 2018
dbSNP: rs63749810
rs63749810
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		T 0.720 CausalMutation CLINVAR APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases. 28350801 2017
dbSNP: rs63749810
rs63749810
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		T 0.720 CausalMutation CLINVAR APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and a Literature Review. 27858710 2017
dbSNP: rs63749810
rs63749810
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		T 0.720 CausalMutation CLINVAR Iowa APP mutation-related hereditary cerebral amyloid angiopathy (CAA): A new family from Spain. 27000221 2016
dbSNP: rs63749810
rs63749810
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		T 0.720 CausalMutation CLINVAR Iowa-type hereditary cerebral amyloid angiopathy in a Polish family. 26104569 2015
dbSNP: rs63749810
rs63749810
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		T 0.720 CausalMutation CLINVAR Modeling the Aggregation Propensity and Toxicity of Amyloid-β Variants. 26402770 2015
dbSNP: rs63749810
rs63749810
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		T 0.720 CausalMutation CLINVAR Familial cerebral amyloid angiopathy due to the Iowa mutation in an Irish family. 24878480 2014
dbSNP: rs63749810
rs63749810
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		T 0.720 CausalMutation CLINVAR Iowa variant of familial Alzheimer's disease: accumulation of posttranslationally modified AbetaD23N in parenchymal and cerebrovascular amyloid deposits. 20228223 2010
dbSNP: rs63749810
rs63749810
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease 		T 0.720 CausalMutation CLINVAR Pathogenic effects of D23N Iowa mutant amyloid beta -protein. 11441013 2001