APP, amyloid beta precursor protein, 351

N. diseases: 371; N. variants: 63
Source: ALL
Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs141941701
rs141941701
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0750901
Disease:
Alzheimer Disease, Early Onset
0.010 GeneticVariation BEFREE Here, we report a family (family GB) in which early-onset Alzheimer's disease was caused by a novel presenilin 1 mutation (L282V). 11701593 2002
dbSNP: rs149995579
rs149995579
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.010 GeneticVariation BEFREE In conclusion, the genetic contribution of TARDBP to AD was restricted to the rare mutation p.Ala90Val (3/739, 0.4%) of unclear pathogenic nature that affects the nuclear localization signal in TDP-43. 20555136 2010
dbSNP: rs193922916
rs193922916
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.730 CausalMutation CLINVAR Current concepts in mild cognitive impairment. 11735772 2001
dbSNP: rs193922916
rs193922916
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.730 GeneticVariation BEFREE Here we reviewed the studies on pathogenic mechanisms associated with the A673V mutation and the first experimental steps toward the development of a novel disease-modifying therapy for AD. 22727994 2013
dbSNP: rs193922916
rs193922916
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.730 CausalMutation CLINVAR A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis. 19286555 2009
dbSNP: rs193922916
rs193922916
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.730 GeneticVariation BEFREE The highly amyloidogenic effect of the A673V mutation in the homozygous state and its anti-amyloidogenic effect in the heterozygous state account for the autosomal recessive pattern of inheritance and have implications for genetic screening and the potential treatment of Alzheimer's disease. 19286555 2009
dbSNP: rs193922916
rs193922916
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.730 GeneticVariation BEFREE Neuropathology of the recessive A673V APP mutation: Alzheimer disease with distinctive features. 20842367 2011
dbSNP: rs193922916
rs193922916
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0162534
Disease:
Prion Diseases
0.010 GeneticVariation BEFREE Two mutants of PrP, PG14 and A116V, that are associated with familial human prion diseases failed to inhibit the beta-secretase cleavage of APP. 17573534 2008
dbSNP: rs193922916
rs193922916
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0276496
Disease:
Familial Alzheimer Disease (FAD)
0.010 GeneticVariation BEFREE Therefore, the neuropathological picture of familial AD caused by the APP recessive mutation A673V presents distinctive characteristics compared to sporadic AD or familial AD inherited as a dominant trait. 20842367 2011
dbSNP: rs193922916
rs193922916
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0011265
Disease:
Presenile dementia
0.010 GeneticVariation BEFREE We found a novel APP mutation (A673V) in the homozygous state in a patient with early-onset AD-type dementia and in his younger sister showing initial signs of cognitive decline. 22727994 2013
dbSNP: rs193922916
rs193922916
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0497327
Disease:
Dementia
0.010 GeneticVariation BEFREE We found a novel APP mutation (A673V) in the homozygous state in a patient with early-onset AD-type dementia and in his younger sister showing initial signs of cognitive decline. 22727994 2013
dbSNP: rs193922916
rs193922916
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0338656
Disease:
Impaired cognition
0.010 GeneticVariation BEFREE We found a novel APP mutation (A673V) in the homozygous state in a patient with early-onset AD-type dementia and in his younger sister showing initial signs of cognitive decline. 22727994 2013
dbSNP: rs200074159
rs200074159
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.010 GeneticVariation BEFREE In a "combined" model, expressing both tau(V337M) and the familial amyloid precursor protein AD mutation APP(V717I) in a CT100 fragment, age-dependent tau phosphorylation occurred at the same sites and was significantly augmented compared to "single" tau(V337M) mice. 15601849 2005
dbSNP: rs200086074
rs200086074
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0033975
Disease:
Psychotic Disorders
0.010 GeneticVariation BEFREE The results had adequate statistical power to suggest that BDNF Val66Met was not related to susceptibility to AD or the onset of AD, but that presence of one or two Met alleles of BDNF Val66Met polymorphism might present a risk factor for psychosis in AD. 21044653 2011
dbSNP: rs200086074
rs200086074
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0349204
Disease:
Nonorganic psychosis
0.010 GeneticVariation BEFREE The results had adequate statistical power to suggest that BDNF Val66Met was not related to susceptibility to AD or the onset of AD, but that presence of one or two Met alleles of BDNF Val66Met polymorphism might present a risk factor for psychosis in AD. 21044653 2011
dbSNP: rs200086074
rs200086074
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0036341
Disease:
Schizophrenia
0.010 GeneticVariation BEFREE A single base pair polymorphism (BDNF Val66Met) was reported to be associated with AD and/or schizophrenia, as well as other psychoses, although some studies failed to replicate these findings. 21044653 2011
dbSNP: rs200086074
rs200086074
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0871189
Disease:
Psychotic symptom
0.010 GeneticVariation BEFREE Brain derived neurotrophic factor Val66Met polymorphism and psychotic symptoms in Alzheimer's disease. 21044653 2011
dbSNP: rs200086074
rs200086074
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.010 GeneticVariation BEFREE Brain derived neurotrophic factor Val66Met polymorphism and psychotic symptoms in Alzheimer's disease. 21044653 2011
dbSNP: rs200548072
rs200548072
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0028043
Disease:
Nicotine Dependence
0.010 GeneticVariation BEFREE We show that carriers of a rare missense variant (allele frequency=0.24%) within CHRNA4, encoding an R336C substitution, have greater risk of nicotine addiction than non-carriers as assessed by the Fagerstrom Test for Nicotine Dependence (P=1.2 × 10(-4)). 26952864 2017
dbSNP: rs200620364
rs200620364
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.010 GeneticVariation BEFREE A rare variant in PLD3 (phospholipase D3; Val232Met) segregated with disease status in two independent families and doubled risk for Alzheimer's disease in seven independent case-control series with a total of more than 11,000 cases and controls of European descent. 24336208 2014
dbSNP: rs201732035
rs201732035
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.010 GeneticVariation BEFREE Several conflicting studies have examined levels of LRP in AD brains, as well as the relationship between the LRP exon 3 (C766T) polymorphism and LRP levels and/or disease susceptibility. 14575236 2003
dbSNP: rs202074408
rs202074408
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.080 GeneticVariation BEFREE The present study evaluates the impact of neurosteroids belonging to the sex hormone family (progesterone, estradiol, estrone, testosterone, 3α-androstanediol) on mitochondrial dysfunction in cellular models of AD: human neuroblastoma cells (SH-SY5Y) stably transfected with constructs encoding (1) the human amyloid precursor protein (APP) resulting in overexpression of APP and Aβ, (2) wild-type tau (wtTau), and (3) mutant tau (P301L), that induces abnormal tau hyperphosphorylation. 26198711 2016
dbSNP: rs202074408
rs202074408
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.080 GeneticVariation BEFREE To study the interaction between Abeta and tau and their effect on synaptic function, we derived a triple-transgenic model (3xTg-AD) harboring PS1(M146V), APP(Swe), and tau(P301L) transgenes. 12895417 2003
dbSNP: rs202074408
rs202074408
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.080 GeneticVariation BEFREE We previously demonstrated that 3xTg-AD mice, which harbor the human amyloid precursor protein Swedish mutant transgene, presenilin knock-in mutation, and tau P301L mutant transgene, exhibit significant alterations in overall myelination patterns and oligodendrocyte status at time points preceding the appearance of amyloid and tau pathology. 20696774 2010
dbSNP: rs202074408
rs202074408
Entrez Id: 351
Gene Symbol: APP
APP
CUI: C0002395
Disease:
Alzheimer's Disease
0.080 GeneticVariation BEFREE Herein, we demonstrate that triple-transgenic AD (3xTg-AD) mice, which harbor the human amyloid precursor protein Swedish mutant transgene, presenilin knock-in mutation, and tau P301L mutant transgene, exhibit significant region-specific alterations in myelination patterns and in oligodendrocyte marker expression profiles at time points preceding the appearance of amyloid and tau pathology. 18661556 2009