|
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type
|
0.600 |
GermlineCausalMutation
|
disease |
ORPHANET |
Hereditary cerebral hemorrhage with amyloidosis - Dutch type is an autosomal dominant hereditary disease caused by a point mutation in the amyloid precursor protein gene on chromosome 21.
|
24870607 |
2014 |
|
Alzheimer's Disease
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
APP717 missense mutation affects the ratio of amyloid beta protein species (A beta 1-42/43 and a beta 1-40) in familial Alzheimer's disease brain.
|
7806491 |
1994 |
|
Alzheimer's Disease
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Iowa APP mutation-related hereditary cerebral amyloid angiopathy (CAA): A new family from Spain.
|
27000221 |
2016 |
|
Alzheimer's Disease
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutations in amyloid precursor protein affect its interactions with presenilin/gamma-secretase.
|
19281847 |
2009 |
|
Alzheimer's Disease
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Novel mutations and repeated findings of mutations in familial Alzheimer disease.
|
15776278 |
2005 |
|
Alzheimer's Disease
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Early-onset Alzheimer's disease in two Iranian families: a genetic study.
|
25138979 |
2014 |
|
Alzheimer's Disease
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and a Literature Review.
|
27858710 |
2017 |
|
Alzheimer's Disease
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Correlative memory deficits, Abeta elevation, and amyloid plaques in transgenic mice.
|
8810256 |
1996 |
|
Alzheimer's Disease
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Iowa variant of familial Alzheimer's disease: accumulation of posttranslationally modified AbetaD23N in parenchymal and cerebrovascular amyloid deposits.
|
20228223 |
2010 |
|
Alzheimer's Disease
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Iowa-type hereditary cerebral amyloid angiopathy in a Polish family.
|
26104569 |
2015 |
|
Alzheimer's Disease
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Swedish mutant APP suppresses osteoblast differentiation and causes osteoporotic deficit, which are ameliorated by N-acetyl-L-cysteine.
|
23649480 |
2013 |
|
Alzheimer's Disease
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Neuronal deficiency of presenilin 1 inhibits amyloid plaque formation and corrects hippocampal long-term potentiation but not a cognitive defect of amyloid precursor protein [V717I] transgenic mice.
|
11978821 |
2002 |
|
Alzheimer's Disease
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Direct sequencing of DNA from a family with autopsy-proven Alzheimer's disease revealed a single amino acid substitution (Phe for Val) in the transmembrane domain of the amyloid precursor protein.
|
1925564 |
1991 |
|
Alzheimer's Disease
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutational analysis in early-onset familial Alzheimer's disease in Mainland China.
|
24650794 |
2014 |
|
Alzheimer's Disease
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.
|
28350801 |
2017 |
|
Alzheimer's Disease
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Modeling the Aggregation Propensity and Toxicity of Amyloid-β Variants.
|
26402770 |
2015 |
|
Alzheimer's Disease
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Marked accumulation of 27-hydroxycholesterol in the brains of Alzheimer's patients with the Swedish APP 670/671 mutation.
|
21335619 |
2011 |
|
Alzheimer's Disease
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
The familial Alzheimer's disease APPV717I mutation alters APP processing and Tau expression in iPSC-derived neurons.
|
24524897 |
2014 |
|
Alzheimer's Disease
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Familial cerebral amyloid angiopathy due to the Iowa mutation in an Irish family.
|
24878480 |
2014 |
|
Alzheimer's Disease
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Pathogenic effects of D23N Iowa mutant amyloid beta -protein.
|
11441013 |
2001 |
|
Alzheimer's Disease
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Clinical characterization of an APP mutation (V717I) in five Han Chinese families with early-onset Alzheimer's disease.
|
27838006 |
2017 |
|
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Alzheimer disease type 1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
Alzheimer's Disease
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Reduced action of thyroid hormone on the APP gene may contribute to AD pathology by increasing APP expression and the levels of processed APP products.
|
17199430 |
2006 |