APP, amyloid beta precursor protein, 351

N. diseases: 485; N. variants: 114
Disease: Cerebral hemorrhage with amyloidosis, hereditary, Dutch type ×
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: C2931672
Disease:
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type 		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: C2931672
Disease:
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type 		0.020 GeneticVariation BEFREE Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D), is an autosomal dominant disorder caused by the Dutch mutation (E693Q) in the beta-amyloid precursor protein. 17628026 2007