APP, amyloid beta precursor protein, 351

N. diseases: 485; N. variants: 114
Disease: AURAL ATRESIA, CONGENITAL ×
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: C1842937
Disease:
AURAL ATRESIA, CONGENITAL 		0.020 GeneticVariation BEFREE Hereditary cerebral hemorrhage with amyloidosis-Dutch type (HCHWA-D) is an early onset hereditary form of cerebral amyloid angiopathy (CAA) caused by a point mutation resulting in an amino acid change (NP_000475.1:p.Glu693Gln) in the amyloid precursor protein (APP). 29706885 2018
dbSNP: rs63750579
rs63750579
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C1842937
Disease:
AURAL ATRESIA, CONGENITAL 		0.020 GeneticVariation BEFREE We found that neuronal overexpression of human E693Q APP in mice (APPDutch mice) caused extensive CAA, smooth muscle cell degeneration, hemorrhages and neuroinflammation. 15311281 2004