rs63750579, APP

N. diseases: 13
Disease: Cerebral hemorrhage with amyloidosis, hereditary, Dutch type ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type
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
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type
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