rs63750973, APP

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.720 GeneticVariation BEFREE Intraneuronal amyloid beta and reduced brain volume in a novel APP T714I mouse model for Alzheimer's disease. 17112635 2008
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.720 GeneticVariation BEFREE Here, we describe an aggressive form of AD caused by a novel missense mutation in APP (T714I) directly involving gamma-secretase cleavages of APP. 11063718 2000
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.720 GeneticVariation UNIPROT
Alzheimer disease type 1
CUI: C2931257
Disease: Alzheimer disease type 1
0.700 CausalMutation CLINVAR
AURAL ATRESIA, CONGENITAL
CUI: C1842937
Disease: AURAL ATRESIA, CONGENITAL
0.010 GeneticVariation BEFREE Conversely, APP mutations such as Austrian APP (T714I) drastically decrease Abeta40 production and are deficient in CAA. 18184371 2008