APP, amyloid beta precursor protein, 351

N. diseases: 485; N. variants: 114
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C0497327
Disease: Dementia
Dementia 		0.700 Biomarker disease GENOMICS_ENGLAND In order to assess the frequency of mutations in the known Alzheimer's disease causative genes in Turkish dementia patients we screened amyloid precursor protein (APP), PSEN1 and PSEN2 for mutations in a cohort of 98 Turkish dementia families. 22503161 2012
CUI: C0497327
Disease: Dementia
Dementia 		0.700 Biomarker disease GENOMICS_ENGLAND The genetics of Alzheimer disease. 23028126 2012
CUI: C2751536
Disease: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED 		0.700 Biomarker disease GENOMICS_ENGLAND Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type. 2111584 1990
CUI: C2751536
Disease: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED 		0.700 Biomarker disease GENOMICS_ENGLAND Iowa variant of familial Alzheimer's disease: accumulation of posttranslationally modified AbetaD23N in parenchymal and cerebrovascular amyloid deposits. 20228223 2010
CUI: C0036572
Disease: Seizures
Seizures 		0.500 Biomarker phenotype GENOMICS_ENGLAND Iowa variant of familial Alzheimer's disease: accumulation of posttranslationally modified AbetaD23N in parenchymal and cerebrovascular amyloid deposits. 20228223 2010
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.490 Biomarker group GENOMICS_ENGLAND Iowa variant of familial Alzheimer's disease: accumulation of posttranslationally modified AbetaD23N in parenchymal and cerebrovascular amyloid deposits. 20228223 2010
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.310 Biomarker disease GENOMICS_ENGLAND Iowa variant of familial Alzheimer's disease: accumulation of posttranslationally modified AbetaD23N in parenchymal and cerebrovascular amyloid deposits. 20228223 2010
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.300 Biomarker group GENOMICS_ENGLAND Iowa variant of familial Alzheimer's disease: accumulation of posttranslationally modified AbetaD23N in parenchymal and cerebrovascular amyloid deposits. 20228223 2010
CUI: C0553692
Disease: Brain hemorrhage
Brain hemorrhage 		0.300 Biomarker phenotype GENOMICS_ENGLAND Iowa variant of familial Alzheimer's disease: accumulation of posttranslationally modified AbetaD23N in parenchymal and cerebrovascular amyloid deposits. 20228223 2010
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.900 GeneticVariation disease UNIPROT The only specific molecular defects that cause Alzheimer's disease which have been identified so far are missense mutations in the gene encoding the beta-amyloid precursor protein (beta-APP) in certain families with an autosomal dominant form of the disease (familial Alzheimer's disease, or FAD). 1465129 1992
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.900 GeneticVariation disease UNIPROT Mis-sense mutation Val----Ile in exon 17 of amyloid precursor protein gene in Japanese familial Alzheimer's disease. 1678058 1991
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.900 GeneticVariation disease UNIPROT Here, we describe an aggressive form of AD caused by a novel missense mutation in APP (T714I) directly involving gamma-secretase cleavages of APP. 11063718 2000
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.900 GeneticVariation disease UNIPROT Characterization of amyloid fibril beta-peptide in familial Alzheimer's disease with APP717 mutations. 8267572 1993
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.900 GeneticVariation disease UNIPROT A system for studying the effect(s) of familial Alzheimer disease mutations on the processing of the beta-amyloid peptide precursor. 8476439 1993
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.900 GeneticVariation disease UNIPROT Familial Alzheimer's disease-linked mutations at Val717 of amyloid precursor protein are specific for the increased secretion of A beta 42(43). 8886002 1996
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.900 GeneticVariation disease UNIPROT A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid. 1302033 1992
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.900 GeneticVariation disease UNIPROT Clinical characteristics in a kindred with early-onset Alzheimer's disease and their linkage to a G-->T change at position 2149 of the amyloid precursor protein gene. 8290042 1994
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.900 GeneticVariation disease UNIPROT We have identified another family, F19, in which we have detected linkage between the beta-amyloid precursor protein gene and Alzheimer's disease. 1944558 1991
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.900 GeneticVariation disease UNIPROT In vitro studies of amyloid beta-protein fibril assembly and toxicity provide clues to the aetiology of Flemish variant (Ala692-->Gly) Alzheimer's disease. 11311152 2001