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AD2
MCID: ALZ049
MIFTS: 59

Alzheimer Disease 2 (AD2)

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Alzheimer Disease 2

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MalaCards integrated aliases for Alzheimer Disease 2:

Name: Alzheimer Disease 2 57 75 29 6 73
Ad2 57 12 53 75
Alzheimer Disease Associated with Apoe4 57 12 75
Alzheimer Disease-2 57 12 13
Late Onset Alzheimer Disease 53 55
Alzheimer's Disease 2 12 15
Alzheimer Disease Associated with Apoe E4 53
Late Onset Familial Alzheimer Disease 53
Late-Onset Familial Alzheimer Disease 53
Alzheimer Disease 2, Late-Onset 57
Alzheimer Disease 2, Late Onset 12
Alzheimer Disease, Late Onset 73
Late-Onset Alzheimer Disease 75
Alzheimer Disease, Type 2 40
Alzheimer Disease Type 2 53
Lofad 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant allele (19q) with additional multifactorial component in late-onset cases


HPO:

32
alzheimer disease 2:
Onset and clinical course late onset


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

OMIM 57 104310
Disease Ontology 12 DOID:0110035
ICD10 33 G30
MedGen 42 C1863051
MeSH 44 D000544
Sources

Summaries for Alzheimer Disease 2

About this section
NIH Rare Diseases : 53 Late-onset familial Alzheimer disease, is a form of familial Alzheimer disease, that begins after age 65. In general, Alzheimer disease (AD) is a degenerative disease of the brain that causes gradual loss of memory, judgement and the ability to function socially. The exact underlying cause of late-onset familial AD is not completely understood; however, researchers suspect that it is a complex condition, which is likely associated with multiple susceptibilitygenes in combination with environmental and lifestyle factors. A gene called APOE has been studied extensively as a risk factor for the disease. In particular, a variant of this gene called the "e4 allele" seems to increase an individual's risk for developing late-onset Alzheimer disease (people who have this allele are said to have the late-onset familial AD type 2). It is important to understand that APOE is a susceptibility gene, not a determinative gene, which means that people  having two copies of this allele have an increased risk of having AD but not necessarily will have it.  There is no cure for AD. Treatment is supportive and based on the signs and symptoms present in each person.

MalaCards based summary : Alzheimer Disease 2, also known as ad2, is related to alzheimer disease and senile plaque formation. An important gene associated with Alzheimer Disease 2 is APOE (Apolipoprotein E), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Development HGF signaling pathway. The drugs Estradiol and Estradiol valerate have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and heart, and related phenotypes are dementia and parkinsonism

UniProtKB/Swiss-Prot : 75 Alzheimer disease 2: A late-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death.

Disease Ontology : 12 An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele.

Description from OMIM: 104310
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Related Diseases for Alzheimer Disease 2

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Diseases in the Alzheimer Disease family:

Alzheimer Disease 2 Alzheimer Disease 16
Alzheimer Disease 5 Alzheimer Disease 6
Alzheimer Disease 7 Alzheimer Disease 4
Alzheimer Disease 8 Alzheimer Disease 3
Alzheimer Disease 9 Alzheimer Disease 10
Alzheimer Disease 11 Alzheimer Disease 12
Alzheimer Disease 13 Alzheimer Disease 14
Alzheimer Disease 15 Alzheimer Disease 17
Alzheimer Disease 18 Alzheimer Disease 19
Early-Onset Familial Alzheimer Disease Alzheimer Disease Type 1
Early-Onset, Autosomal Dominant Alzheimer Disease

Diseases related to Alzheimer Disease 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 alzheimer disease 24.1 APOE APP BCHE CTSD GSK3B IDE
2 senile plaque formation 10.7 APOE APP
3 alexia 10.7 APOE PSEN1
4 posterior cortical atrophy 10.6 APOE MAPT
5 progressive non-fluent aphasia 10.6 MAPT PSEN1
6 alzheimer disease 4 10.6 APOE PSEN1 PSEN2
7 behavioral variant of frontotemporal dementia 10.6 MAPT PSEN1
8 visual agnosia 10.5 PSEN1 PSEN2
9 adenosquamous gallbladder carcinoma 10.5 CTSD SERPINA3
10 gait apraxia 10.5 APOE APP PSEN1
11 intracranial vasospasm 10.5 APOE NOS3
12 echolalia 10.5 MAPT PSEN1
13 early-onset, autosomal dominant alzheimer disease 10.5 APP PSEN1 PSEN2
14 early-onset familial alzheimer disease 10.4 APP PSEN1 PSEN2
15 semantic dementia 10.4 APOE MAPT PSEN1
16 leukoencephalopathy, hereditary diffuse, with spheroids 10.4 APP MAPT
17 amyloidosis 10.3 APOE APP PSEN1
18 communicating hydrocephalus 10.3 APOE MAPT SERPINA3
19 aneurysmal bone cysts 10.3 GSK3B MAPT
20 binswanger's disease 10.3 APOE APP MAPT
21 kluver-bucy syndrome 10.3 APP MAPT PSEN1
22 heart cancer 10.3 APOE SMUG1
23 hydrocephalus, normal-pressure 10.2 APOE MAPT
24 inclusion body myositis 10.2 APOE APP MAPT
25 creutzfeldt-jakob disease 10.2 APOE MAPT SERPINA3
26 agraphia 10.2 BCHE MAPT PSEN1
27 ideomotor apraxia 10.2 BCHE MAPT PSEN1
28 scrotal carcinoma 10.2 SERPINA3 SMUG1
29 endometrial adenosquamous carcinoma 10.1 PLAU SERPINA3
30 hydrocephalus 10.0 APOE APP MAPT
31 breast cyst 10.0 CTSD SERPINA3
32 cerebral amyloid angiopathy, cst3-related 10.0 APOE APP MAPT PSEN1
33 aphasia 10.0 APOE APP MAPT PSEN1
34 pick disease of brain 10.0 APOE APP MAPT PSEN1
35 supranuclear palsy, progressive, 1 10.0 APOE APP MAPT PSEN1
36 descending colon cancer 10.0 APP SMUG1
37 disease of mental health 10.0 APOE APP MAPT PSEN1
38 simultanagnosia 10.0 APOE MAPT SMUG1
39 alzheimer disease 19 9.9
40 nominal aphasia 9.9 MAPT PSEN1 SMUG1
41 arteries, anomalies of 9.9 APOE CETP NOS3
42 atherosclerosis susceptibility 9.8 APOE CETP NOS3
43 hypercholesterolemia, familial 9.7 APOE CETP NOS3
44 parkinson disease, late-onset 9.7 APOE APP BCHE MAPT
45 familial idiopathic basal ganglia calcification 9.7 APOE APP MAPT PSEN1 PSEN2
46 frontotemporal dementia 9.7 APOE APP MAPT PSEN1 PSEN2
47 ischemic heart disease 9.7 APOE NOS3
48 tuberculous peritonitis 9.6 BCHE SMUG1
49 speech and communication disorders 9.6 APOE MAPT PSEN1 SMUG1
50 buerger disease 9.5 NOS3 PLAU

Graphical network of the top 20 diseases related to Alzheimer Disease 2:



Diseases related to Alzheimer Disease 2
Sources

Symptoms & Phenotypes for Alzheimer Disease 2

About this section

Symptoms via clinical synopsis from OMIM:

57
Neuro:
presenile and senile dementia
parkinsonism
long tract signs

Lab:
neurofibrillary tangles composed of disordered microtubules in neurons

Misc:
late onset


Clinical features from OMIM:

104310

Human phenotypes related to Alzheimer Disease 2:

32
# Description HPO Frequency HPO Source Accession
1 dementia 32 HP:0000726
2 parkinsonism 32 HP:0001300
3 neurofibrillary tangles 32 HP:0002185
4 long-tract signs 32 HP:0002423
5 alzheimer disease 32 HP:0002511

GenomeRNAi Phenotypes related to Alzheimer Disease 2 according to GeneCards Suite gene sharing:

26 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.72 CTSD
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.72 PSEN1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.72 CTSD
4 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.72 IDE
5 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.72 PSEN1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.72 GSK3B
7 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.72 IDE
8 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.72 GSK3B
9 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.72 GSK3B
10 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.72 CTSD
11 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.72 IDE
12 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.72 GSK3B
13 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.72 GSK3B
14 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.72 IDE
15 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.72 IDE
16 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.72 IDE
17 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.72 IDE
18 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.72 CTSD
19 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.72 PSEN1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.72 CTSD GSK3B IDE PSEN1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.72 CTSD
22 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.72 CTSD

MGI Mouse Phenotypes related to Alzheimer Disease 2:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.22 APOE APP CTSD GSK3B MAPT NOS3
2 homeostasis/metabolism MP:0005376 10.21 MAPT NOS3 PLAU PSEN1 PSEN2 SMUG1
3 behavior/neurological MP:0005386 10.2 PSEN1 PSEN2 APOE APP CTSD GSK3B
4 cardiovascular system MP:0005385 10.19 NOS3 PLAU PSEN1 PSEN2 APOE APP
5 growth/size/body region MP:0005378 10.16 APOE APP CTSD GSK3B IDE MAPT
6 immune system MP:0005387 10.06 APOE APP CTSD GSK3B MAPT NOS3
7 mortality/aging MP:0010768 10.06 APOE APP BCHE CTSD GSK3B MAPT
8 digestive/alimentary MP:0005381 10.04 NOS3 PLAU PSEN1 PSEN2 APOE CTSD
9 endocrine/exocrine gland MP:0005379 10.02 APOE CTSD GSK3B NOS3 PLAU PSEN1
10 craniofacial MP:0005382 9.99 GSK3B IDE MAPT PLAU PSEN1 PSEN2
11 integument MP:0010771 9.97 APOE APP CTSD IDE MAPT PLAU
12 nervous system MP:0003631 9.85 APOE APP CTSD GSK3B IDE MAPT
13 muscle MP:0005369 9.73 APOE APP MAPT NOS3 PLAU PSEN1
14 renal/urinary system MP:0005367 9.43 APOE GSK3B MAPT NOS3 PSEN1 PSEN2
15 vision/eye MP:0005391 9.17 APOE CTSD MAPT NOS3 PLAU PSEN1
Sources

Drugs & Therapeutics for Alzheimer Disease 2

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Drugs for Alzheimer Disease 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 95)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
2 Estradiol valerate Approved, Investigational, Vet_approved Phase 4 979-32-8
3
Medroxyprogesterone acetate Approved, Investigational Phase 4 71-58-9
4
Polyestradiol phosphate Approved Phase 4 28014-46-2
5
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
6
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
7
Ondansetron Approved Phase 4 99614-02-5 4595
8
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
9
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
10
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
11
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
12 Antineoplastic Agents, Hormonal Phase 4
13 Contraceptive Agents Phase 4
14 Contraceptive Agents, Male Phase 4
15 Estradiol 17 beta-cypionate Phase 4
16 Estradiol 3-benzoate Phase 4
17 Estrogens Phase 4,Phase 1,Phase 2
18 Hormone Antagonists Phase 4,Phase 1,Phase 2,Not Applicable
19 Hormones Phase 4,Phase 1,Phase 2,Not Applicable
20 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 1,Phase 2,Not Applicable
21
Medroxyprogesterone Phase 4 520-85-4 10631
22 Phytoestrogens Phase 4,Phase 1,Phase 2
23 Progestins Phase 4
24 Autonomic Agents Phase 4,Not Applicable
25 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Not Applicable
26 Peripheral Nervous System Agents Phase 4,Not Applicable
27 Anesthetics Phase 4
28 Anesthetics, General Phase 4
29 Anesthetics, Inhalation Phase 4
30 Anti-Anxiety Agents Phase 4
31 Antiemetics Phase 4
32 Anti-Inflammatory Agents Phase 4,Not Applicable
33 Antipruritics Phase 4
34 Antipsychotic Agents Phase 4
35 BB 1101 Phase 4
36 Central Nervous System Depressants Phase 4
37 Dermatologic Agents Phase 4
38 Dexamethasone acetate Phase 4 1177-87-3
39 Gastrointestinal Agents Phase 4
40 glucocorticoids Phase 4
41 HIV Protease Inhibitors Phase 4
42 Platelet Aggregation Inhibitors Phase 4
43
protease inhibitors Phase 4
44 Psychotropic Drugs Phase 4,Phase 2,Phase 3
45 Serotonin Agents Phase 4,Phase 2,Phase 3
46 Serotonin Antagonists Phase 4
47 Tranquilizing Agents Phase 4
48 Xenon Phase 4
49 Dopamine Agents Phase 4
50 Dopamine Antagonists Phase 4

Interventional clinical trials:

(show all 38)
# Name Status NCT ID Phase Drugs
1 Multi-centre Clinical Trial on Hormone Replacement Treatment in China Unknown status NCT01698164 Phase 4 estradiol plus MPA;Ximingting Tablet;estradiol plus progesterone
2 Depth of Hypnosis and Postoperative Nausea and Vomiting During Xenon Anaesthesia Completed NCT00793663 Phase 4 Xenon;Sevoflurane;Dexamethasone;NaCl;Ondansetron;NaCl
3 A Comparison of Two Standard Therapies in the Management of Dementia With Agitation Completed NCT00208819 Phase 4 risperidone;quetiapine;olanzapine;divalproex
4 Depression in Alzheimer's Disease-2 Completed NCT00086138 Phase 2, Phase 3 Sertraline (Zoloft);Placebo
5 Study of Baricitinib (LY3009104) in Adults With Moderate to Severe Atopic Dermatitis Recruiting NCT03334422 Phase 3 Baricitinib;Placebo
6 Safety and Efficacy Study of Ad2/Hypoxia Inducible Factor (HIF)-1α/VP16 Gene Transfer in Patients With Intermittent Claudication Completed NCT00117650 Phase 2
7 Preliminary Efficacy and Safety Study of ST101 Plus Aricept in Alzheimer's Disease Completed NCT00842816 Phase 2 ST101;ST101;ST101;Placebo
8 Preliminary Efficacy and Safety Study of ST101 in Alzheimer's Disease Completed NCT00842673 Phase 2 ST101;ST101;ST101;Placebo
9 Physiotherapy on the Airway of Bruxist Children Completed NCT01178229 Phase 1, Phase 2
10 A Single Site, Randomized, Double-blind, Placebo Controlled Trial of NIC5-15 in Subjects With Alzheimer's Disease Completed NCT01928420 Phase 2 Drug: NIC5-15;Placebo
11 Development of NIC5-15 in the Treatment of Alzheimer's Disease Completed NCT00470418 Phase 2 NIC5-15;Placebo
12 Study to Explore the Optimal Dosage/Administration in Alzheimer's Disease Completed NCT01715350 Phase 2 PM012;Placebo
13 S-Equol in Alzheimer's Disease 2 Trial Recruiting NCT03101085 Phase 1, Phase 2 S-equol
14 Phase 2 Study to Examine Grape Seed Extract as an Anti-Oligomerization Agent in Alzheimer's Disease (AD) Recruiting NCT02033941 Phase 2 Meganatural-Az Grapeseed Extract;Placebo
15 Safety and Efficacy of Piromelatine in Mild Alzheimer's Disease Patients (ReCOGNITION) Recruiting NCT02615002 Phase 2 Piromelatine;Placebo
16 Far Infrared Treatment for Alzheimer's Disease Unknown status NCT00599469 Phase 1
17 Safety Study of the Effect of Scelectium Tortuosum (as Zembrin®)in Aged Normals Completed NCT01805518 Phase 1
18 Single-Ascending-Dose Study of BIIB076 in Healthy Volunteers and Participants With Alzheimer's Disease Active, not recruiting NCT03056729 Phase 1 BIIB076;Placebo
19 Evaluation of a Diet in Patients With Senile Dementia Unknown status NCT01192529 Not Applicable
20 AcrySof® IQ ReSTOR® +2.5 D Multifocal Intraocular Lens (IOL) Model SN6AD2 [SV25T0] in Japan Completed NCT01605877 Not Applicable
21 Clinical Investigation of AcrySof® IQ ReSTOR® +2.5 D Multifocal Intraocular Lens (IOL) Model SN6AD2 [SV25T0] Completed NCT01510717 Not Applicable
22 The Occurrence of the ApoE4 Allele in Agitated In-Patients With Late-Onset Alzheimer's Disease Completed NCT01329536
23 A Clinical Outcome Study of Two Multifocal Intraocular Lenses (IOL) in Cataract Patients Completed NCT01684007 Not Applicable
24 Response to Donepezil, Drug Plasma Concentration and the CYP2D6 and APOE Genetic Polymorphisms Completed NCT03349320
25 System-IGF-1 Pathway and Alzheimer's Disease Completed NCT00647478
26 eVAluatIon of OLanzapine TreatmEnT Completed NCT02006862
27 Non-invasive Liver Screening for Risk Assessment for Coronary Heart Disease Completed NCT02779946
28 Do Apolipoprotein E Polymorphisms Influence Risk of Cognitive Decline by Modulating Omega-3 Fatty Acid Metabolism? Completed NCT01577004 Not Applicable
29 The Clinical Application and Mechanism of Music Therapy (Mozart's Effect) on Epilepsy Completed NCT01892605 Not Applicable
30 Growth Hormone Evaluation in the Elderly People Completed NCT02240043 Not Applicable
31 Alzheimer's Disease Genetics Study Recruiting NCT00064870
32 Early-onset Alzheimer's Disease Phenotypes: Neuropsychology and Neural Networks Recruiting NCT03153371
33 Triple-branch Stent Graft Placement and Total-arch Replacement for the Treatment of Acute DeBakey I Aortic Dissection Recruiting NCT02622750 Early Phase 1
34 Measuring Brain Amyloid Plaque Load in Older Adults Using BAY 94-9172 Active, not recruiting NCT01222351 Not Applicable BAY 94-9172 (Florbetaben)
35 Maximizing the Anti-inflammatory Effects of Strawberry Bioavailability Active, not recruiting NCT01856153 Not Applicable
36 Effects of Visual Art Training on Dementia Enrolling by invitation NCT03175822 Not Applicable
37 Perioperative Research Into Memory, Genomics in the Intensive Therapy Unit: Alzheimer's Not yet recruiting NCT03393130
38 Brain Study of Patients With Frontal Lobe Dementia and Parkinsonian Disorders Terminated NCT00001178

Search NIH Clinical Center for Alzheimer Disease 2

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Genetic Tests for Alzheimer Disease 2

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Genetic tests related to Alzheimer Disease 2:

# Genetic test Affiliating Genes
1 Alzheimer Disease 2 29 APOE
Sources

Anatomical Context for Alzheimer Disease 2

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MalaCards organs/tissues related to Alzheimer Disease 2:

41
Brain, Liver, Heart, Testes, Cortex
Sources

Publications for Alzheimer Disease 2

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Articles related to Alzheimer Disease 2:

(show top 50) (show all 72)
# Title Authors Year
1
Association of lectin-like oxidized low density lipoprotein receptor 1 (<i>OLR1</i>) polymorphisms with late-onset Alzheimer disease in Han Chinese. ( 29951494 )
2018
2
Diagnostic Utility of the Shortened Version of the Wisconsin Card Sorting Test in Patients With Sporadic Late Onset Alzheimer Disease. ( 28859490 )
2017
3
Role of genes GSTM1, GSTT1, and MnSOD in the development of late-onset Alzheimer disease and their relationship with APOE*4. ( 25542503 )
2016
4
The Association Between Clusterin and APOE Polymorphisms and Late-Onset Alzheimer Disease in a Turkish Cohort. ( 27076484 )
2016
5
Discovery of gene-gene interactions across multiple independent data sets of late onset Alzheimer disease from the Alzheimer Disease Genetics Consortium. ( 26827652 )
2016
6
Association between polymorphisms of the insulin-degrading enzyme gene and late-onset Alzheimer disease. ( 25414272 )
2015
7
Association of CLU and TLR2 gene polymorphisms with late-onset Alzheimer disease in a northwestern Iranian population. ( 26738351 )
2015
8
Early- and late-onset Alzheimer disease: Are they the same entity? ( 26546285 )
2015
9
Molecular basis for increased risk for late-onset Alzheimer disease due to the naturally occurring L28P mutation in apolipoprotein E4. ( 24644280 )
2014
10
Late-onset Alzheimer disease genetic variants in posterior cortical atrophy and posterior AD. ( 24670887 )
2014
11
Brain differences in infants at differential genetic risk for late-onset Alzheimer disease: a cross-sectional imaging study. ( 24276092 )
2014
12
Age-Specific Incidence Rates for Dementia and Alzheimer Disease in NIA-LOAD/NCRAD and EFIGA Families: National Institute on Aging Genetics Initiative for Late-Onset Alzheimer Disease/National Cell Repository for Alzheimer Disease (NIA-LOAD/NCRAD) and Estudio Familiar de Influencia Genetica en Alzheimer (EFIGA). ( 24425039 )
2014
13
KIAA1462, a coronary artery disease associated gene, is a candidate gene for late onset Alzheimer disease in APOE carriers. ( 24349219 )
2013
14
Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E I/4,and the risk of late-onset Alzheimer disease in African Americans. ( 23571587 )
2013
15
Association of GWAS top hits with late-onset Alzheimer disease in Korean population. ( 22975751 )
2013
16
Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene. ( 22881374 )
2012
17
Personality factors moderate the associations between apolipoprotein genotype and cognitive function as well as late onset Alzheimer disease. ( 23079898 )
2012
18
Microcephaly genes and risk of late-onset Alzheimer disease. ( 21297427 )
2011
19
PCDH11X variation is not associated with late-onset Alzheimer disease susceptibility. ( 20523261 )
2010
20
Amyloid-beta-Related Genes SORL1 and ACE are Genetically Associated With Risk for Late-onset Alzheimer Disease in the Chinese Population. ( 20625269 )
2010
21
Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities. ( 20885792 )
2010
22
Association between NOS3 gene G894T polymorphism and late-onset Alzheimer disease in a sample from Iran. ( 20505439 )
2010
23
Lack of association between the leptin receptor gene (LEPR) Gln223Arg polymorphism and late-onset Alzheimer disease. ( 20220325 )
2010
24
CALHM1 polymorphism is not associated with late-onset Alzheimer disease. ( 19472444 )
2009
25
[The expression of DJ-1 protein in proteomic analysis of late-onset Alzheimer disease]. ( 19576113 )
2009
26
Genetic association study on in and around the APOE in late-onset Alzheimer disease in Japanese. ( 19442637 )
2009
27
Trospium and cognition in patients with late onset Alzheimer disease. ( 19657549 )
2009
28
Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease. ( 19118814 )
2009
29
Vascular factors and markers of inflammation in offspring with a parental history of late-onset Alzheimer disease. ( 19884614 )
2009
30
SORL1 is genetically associated with increased risk for late-onset Alzheimer disease in the Belgian population. ( 18407551 )
2008
31
Linkage and association study of late-onset Alzheimer disease families linked to 9p21.3. ( 18761660 )
2008
32
Further examination of the candidate genes in chromosome 12p13 locus for late-onset Alzheimer disease. ( 18340469 )
2008
33
No association between SNP rs498055 on chromosome 10 and late-onset Alzheimer disease in multiple datasets. ( 17725684 )
2008
34
The Sp1/Egr1-tandem repeat polymorphism in the 5-lipoxygenase gene promoter is not associated with late onset Alzheimer disease. ( 18525291 )
2008
35
Dynamin 2 gene is a novel susceptibility gene for late-onset Alzheimer disease in non-APOE-epsilon4 carriers. ( 18236001 )
2008
36
Plasma amyloid beta protein is elevated in late-onset Alzheimer disease families. ( 17914065 )
2008
37
Association analysis of genetic polymorphisms in the CDC2 gene with late-onset Alzheimer disease. ( 17159347 )
2007
38
A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch population. ( 17564960 )
2007
39
Genotype and plasma concentration of cystatin C in patients with late-onset Alzheimer disease. ( 17310123 )
2007
40
Positive association between risk for late-onset Alzheimer disease and genetic variation in IDE. ( 16876916 )
2007
41
The insertion polymorphism in angiotensin-converting enzyme gene associated with the APOE epsilon 4 allele increases the risk of late-onset Alzheimer disease. ( 17401152 )
2006
42
A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. ( 16385451 )
2006
43
Tumor necrosis factor alpha and interleukin 10 promoter region polymorphisms and risk of late-onset Alzheimer disease. ( 16908746 )
2006
44
Dissociation of neuropathology from severity of dementia in late-onset Alzheimer disease. ( 16401845 )
2006
45
On the discovery of the genetic association of Apolipoprotein E genotypes and common late-onset Alzheimer disease. ( 16914873 )
2006
46
Retinoid receptors, transporters, and metabolizers as therapeutic targets in late onset Alzheimer disease. ( 17001693 )
2006
47
Lack of genetic association of cholesteryl ester transfer protein polymorphisms with late onset Alzheimers disease. ( 15882786 )
2005
48
Glutathione S-transferase P1 *C allelic variant increases susceptibility for late-onset Alzheimer disease: association study and relationship with apolipoprotein E epsilon4 allele. ( 15805147 )
2005
49
Genetic association of the APP binding protein 2 gene (APBB2) with late onset Alzheimer disease. ( 15714520 )
2005
50
Evidence of linkage and association on chromosome 20 for late-onset Alzheimer disease. ( 15034766 )
2004
Sources

Variations for Alzheimer Disease 2

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UniProtKB/Swiss-Prot genetic disease variations for Alzheimer Disease 2:

75
# Symbol AA change Variation ID SNP ID
1 APOE p.Cys130Arg VAR_000652 rs429358

Sources

Expression for Alzheimer Disease 2

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Search GEO for disease gene expression data for Alzheimer Disease 2.
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Pathways for Alzheimer Disease 2

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Pathways related to Alzheimer Disease 2 according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. 66
Show member pathways
 13.31 APOE APP GSK3B IDE MAPT PSEN1
2
Development HGF signaling pathway 22
Show member pathways
 12.49 GSK3B NOS3 PLAU PSEN1 PSEN2
3
Notch signaling pathway (KEGG) 1
Show member pathways
 12.36 GSK3B MAPT PSEN1 PSEN2
4
Neuroscience 4
12.27 APOE APP GSK3B MAPT PSEN1 PSEN2
5
Presenilin-Mediated Signaling 64
11.82 APP GSK3B PSEN1 PSEN2
6
Copper homeostasis 1
11.39 APP GSK3B MAPT
7
G-protein signaling_Regulation of RAC1 activity 22
11.39 APOE APP GSK3B MAPT
8
A-beta Signaling Pathways 65
11.29 APP CTSD GSK3B PSEN1 PSEN2
9
LKB1 signaling events 1
11.23 CTSD GSK3B PSEN2
10
Reelin signaling pathway 1
11.01 GSK3B MAPT
11
A-beta Pathways: Uptake and Degradation 65
11 APOE APP IDE
12
Canonical and Non-canonical Notch signaling 1
10.97 PSEN1 PSEN2
13
Alzheimers Disease Pathway 64
10.75 APOE APP GSK3B MAPT PSEN1 PSEN2
14
A-beta Pathways: Plaque Formation and APP Metabolism 65
10.72 APP CTSD IDE PSEN1 PSEN2
15
Notch Pathway 72
10.19 PSEN1 PSEN2
Sources

GO Terms for Alzheimer Disease 2

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Cellular components related to Alzheimer Disease 2 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.97 APOE APP BCHE CETP CTSD IDE
2 extracellular region GO:0005576 9.91 APOE APP BCHE CETP CTSD IDE
3 cell surface GO:0009986 9.89 APP IDE PLAU PSEN1 PSEN2
4 dendrite GO:0030425 9.83 APOE GSK3B MAPT PSEN1
5 neuronal cell body GO:0043025 9.81 APOE MAPT PSEN1 PSEN2
6 membrane raft GO:0045121 9.76 APP CTSD PSEN1 PSEN2
7 neuromuscular junction GO:0031594 9.58 APP PSEN1 PSEN2
8 smooth endoplasmic reticulum GO:0005790 9.55 APP PSEN1
9 axon GO:0030424 9.55 APP GSK3B MAPT PSEN1 PSEN2
10 high-density lipoprotein particle GO:0034364 9.54 APOE CETP
11 dendritic shaft GO:0043198 9.5 APP PSEN1 PSEN2
12 nuclear envelope lumen GO:0005641 9.48 APP BCHE
13 main axon GO:0044304 9.43 APP MAPT
14 growth cone GO:0030426 9.26 APP MAPT PSEN1 PSEN2
15 ciliary rootlet GO:0035253 8.8 APP PSEN1 PSEN2

Biological processes related to Alzheimer Disease 2 according to GeneCards Suite gene sharing:

(show all 40)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.98 CTSD PLAU PSEN1 SERPINA3
2 neuron projection development GO:0031175 9.83 APP GSK3B MAPT
3 response to oxidative stress GO:0006979 9.81 APOE APP PSEN1
4 Notch signaling pathway GO:0007219 9.8 APP PSEN1 PSEN2
5 cholesterol metabolic process GO:0008203 9.76 APOE APP CETP
6 positive regulation of catalytic activity GO:0043085 9.75 APOE PSEN1 PSEN2
7 regulation of microtubule cytoskeleton organization GO:0070507 9.68 GSK3B MAPT
8 triglyceride homeostasis GO:0070328 9.68 APOE CETP
9 positive regulation of dendritic spine development GO:0060999 9.67 APOE PSEN1
10 membrane protein ectodomain proteolysis GO:0006509 9.67 PSEN1 PSEN2
11 regulation of protein binding GO:0043393 9.67 APP PSEN1
12 positive regulation of protein binding GO:0032092 9.67 APP GSK3B PSEN1
13 response to lead ion GO:0010288 9.66 APP MAPT
14 vasodilation GO:0042311 9.66 APOE NOS3
15 membrane protein intracellular domain proteolysis GO:0031293 9.65 PSEN1 PSEN2
16 nitric oxide mediated signal transduction GO:0007263 9.65 APOE NOS3
17 reverse cholesterol transport GO:0043691 9.64 APOE CETP
18 high-density lipoprotein particle remodeling GO:0034375 9.63 APOE CETP
19 Notch receptor processing GO:0007220 9.62 PSEN1 PSEN2
20 regulation of axon extension GO:0030516 9.61 APOE GSK3B
21 Notch receptor processing, ligand-dependent GO:0035333 9.61 PSEN1 PSEN2
22 synapse organization GO:0050808 9.61 APP MAPT PSEN1
23 low-density lipoprotein particle remodeling GO:0034374 9.6 APOE CETP
24 amyloid precursor protein metabolic process GO:0042982 9.59 APOE PSEN1
25 amyloid fibril formation GO:1990000 9.57 APP MAPT
26 very-low-density lipoprotein particle remodeling GO:0034372 9.56 APOE CETP
27 negative regulation of platelet activation GO:0010544 9.55 APOE NOS3
28 negative regulation of long-term synaptic potentiation GO:1900272 9.54 APOE APP
29 amyloid precursor protein catabolic process GO:0042987 9.52 PSEN1 PSEN2
30 modulation of age-related behavioral decline GO:0090647 9.51 APP PSEN1
31 neuron projection maintenance GO:1990535 9.48 APP PSEN1
32 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.46 APP PSEN1
33 cellular response to amyloid-beta GO:1904646 9.43 APP GSK3B PSEN1
34 astrocyte activation involved in immune response GO:0002265 9.4 APP PSEN1
35 negative regulation of low-density lipoprotein receptor activity GO:1905598 9.37 APP PSEN1
36 amyloid-beta metabolic process GO:0050435 9.33 IDE PSEN1 PSEN2
37 smooth endoplasmic reticulum calcium ion homeostasis GO:0051563 9.32 APP PSEN1
38 astrocyte activation GO:0048143 9.13 APP MAPT PSEN1
39 positive regulation of amyloid fibril formation GO:1905908 8.8 APOE APP PSEN1
40 proteolysis GO:0006508 10.03 CTSD IDE PLAU PSEN1 PSEN2

Molecular functions related to Alzheimer Disease 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.91 BCHE CTSD IDE PLAU PSEN1 PSEN2
2 peptidase activity GO:0008233 9.72 CTSD IDE PLAU PSEN1 PSEN2
3 lipid transporter activity GO:0005319 9.46 APOE CETP
4 cholesterol transporter activity GO:0017127 9.43 APOE CETP
5 dynactin binding GO:0034452 9.4 GSK3B MAPT
6 aspartic endopeptidase activity, intramembrane cleaving GO:0042500 9.26 PSEN1 PSEN2
7 lipoprotein particle binding GO:0071813 9.16 APOE MAPT
8 amyloid-beta binding GO:0001540 9.13 APOE BCHE IDE
9 aspartic-type endopeptidase activity GO:0004190 8.8 CTSD PSEN1 PSEN2
Sources

Sources for Alzheimer Disease 2

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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