| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.080 | GeneticVariation | disease | BEFREE | These findings expand the number of APP mutations linked to hereditary cerebral hemorrhage with amyloidosis, reinforcing the link between this phenotype and codon 693 of APP. | 20697050 | 2010 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | To investigate amyloid accumulation by carbon 11-labeled Pittsburgh Compound B (11C-PiB) in hereditary cerebral amyloid angiopathy and APP locus duplication. | 18413480 | 2008 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | The contribution of mutations in the amyloid precursor protein (APP) gene known as Flemish (APP/A692G) and Dutch (APP/E693Q) to the pathogenesis of Alzheimer's disease and hereditary cerebral hemorrhage with amyloidosis of the Dutch type, respectively, was studied in transgenic mice that overexpress the mutant APP in brain. | 10671319 | 2000 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | A mutation at codon 693 of APP has also been described as the genetic defect in hereditary cerebral hemorrhage with amyloidosis of the Dutch type (HCHWA-D). | 9754958 | 1998 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | A beta-amyloid peptide variant related with familial Alzheimer's disease and hereditary cerebral hemorrhage with amyloidosis is poorly eliminated by cathepsin D. | 8955370 | 1996 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Mutations within the beta-amyloid precursor protein (beta-APP) gene that cosegregate with early onset familial Alzheimer's disease (FAD) and hereditary cerebral hemorrhage with amyloidosis of the Dutch-type (HCHWA-D) have been reported. | 8515875 | 1993 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | A point mutation detected at position 1852 of the amyloid precursor protein gene in four HCHWA-D patients was hypothesized to be the basic defect. | 1679289 | 1991 | ||||
|
0.080 | Biomarker | disease | BEFREE | The data indicate that the APP gene is tightly linked to HCHWA-D and therefore, in contrast to familial Alzheimer's disease, cannot be excluded as the site of mutation in HCHWA-D. | 1971458 | 1990 |