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AD2
MCID: ALZ049
MIFTS: 60

Alzheimer Disease 2 (AD2)

Categories: Cardiovascular diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare 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 Cardiovascular 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 posterior cortical atrophy and early-onset, autosomal dominant alzheimer disease. 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 Polyestradiol phosphate have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and testes, and related phenotypes are dementia and parkinsonism

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

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.

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
Alzheimer's Disease 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 69)
# Related Disease Score Top Affiliating Genes
1 posterior cortical atrophy 30.1 MAPT APOE
2 early-onset, autosomal dominant alzheimer disease 30.0 PSEN2 PSEN1 APP
3 arteries, anomalies of 29.8 NOS3 CETP APOE
4 coronary artery anomaly 29.5 CETP NOS3 SMUG1
5 vascular dementia 29.4 SERPINA3 PSEN1 MAPT BCHE APP APOE
6 dementia 29.4 PSEN2 PSEN1 MAPT BCHE APP APOE
7 dementia, lewy body 29.3 SMUG1 PSEN1 MAPT BCHE APP APOE
8 alzheimer disease 28.5 SERPINA3 PSEN2 PSEN1 PLAU NOS3 MAPT
9 alzheimer disease 6 11.5
10 alzheimer disease 18 11.5
11 alzheimer disease 9 11.3
12 alzheimer disease 5 10.2
13 senile plaque formation 10.2 APP APOE
14 alexia 10.2 APOE PSEN1
15 visual agnosia 10.2 PSEN2 PSEN1
16 progressive non-fluent aphasia 10.2 PSEN1 MAPT
17 nominal aphasia 10.2 PSEN1 MAPT
18 behavioral variant of frontotemporal dementia 10.2 PSEN1 MAPT
19 alzheimer disease 4 10.2 PSEN2 PSEN1 APOE
20 echolalia 10.2 PSEN1 MAPT
21 adenosquamous gallbladder carcinoma 10.2 SERPINA3 CTSD
22 gait apraxia 10.2 PSEN1 APP APOE
23 intracranial vasospasm 10.1 NOS3 APOE
24 alzheimer's disease 1 10.1 IDE APP APOE
25 alzheimer disease mitochondrial 10.1 MAPT APP
26 huntington disease-like 1 10.1 CETP APOE
27 amyloidosis 10.1 APOE APP PSEN1
28 semantic dementia 10.1 PSEN1 MAPT APOE
29 communicating hydrocephalus 10.1 MAPT APOE
30 aneurysmal bone cysts 10.1 MAPT GSK3B
31 heart cancer 10.1 APOE SMUG1
32 hydrocephalus, normal-pressure 10.1 MAPT APOE
33 binswanger's disease 10.1 MAPT APP APOE
34 gallbladder squamous cell carcinoma 10.1 SMUG1 APP
35 inclusion body myositis 10.1 MAPT APP APOE
36 kluver-bucy syndrome 10.1 PSEN1 MAPT APP
37 creutzfeldt-jakob disease 10.1 SERPINA3 MAPT APOE
38 breast cyst 10.1 SERPINA3 CTSD
39 agraphia 10.1 PSEN1 MAPT BCHE
40 cerebrovascular disease 10.1 APOE APP MAPT
41 descending colon cancer 10.0 SMUG1 APP
42 endometrial adenosquamous carcinoma 10.0 SERPINA3 PLAU
43 hydrocephalus 10.0 MAPT APP APOE
44 aging 10.0
45 alzheimer disease 19 10.0
46 cytomegalovirus infection 10.0
47 ischemic heart disease 10.0 NOS3 APOE
48 kohlschutter-tonz syndrome 10.0 PSEN1 MAPT APP APOE
49 aphasia 10.0 PSEN1 MAPT APP APOE
50 pick disease of brain 10.0 PSEN1 MAPT APP APOE

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

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Symptoms via clinical synopsis from OMIM:

57
Neuro:
parkinsonism
presenile and senile dementia
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 alzheimer disease 32 HP:0002511
5 long-tract signs 32 HP:0002423

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 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.24 APOE APP CTSD GSK3B MAPT NOS3
2 behavior/neurological MP:0005386 10.21 APOE APP CTSD GSK3B MAPT NOS3
3 homeostasis/metabolism MP:0005376 10.21 APOE APP BCHE CTSD GSK3B IDE
4 cardiovascular system MP:0005385 10.2 APOE APP GSK3B IDE MAPT NOS3
5 growth/size/body region MP:0005378 10.18 APOE APP CTSD GSK3B IDE MAPT
6 hematopoietic system MP:0005397 10.06 APOE APP CTSD MAPT NOS3 PLAU
7 immune system MP:0005387 10.06 APOE APP CTSD GSK3B MAPT NOS3
8 mortality/aging MP:0010768 10.06 APOE APP BCHE CTSD GSK3B MAPT
9 digestive/alimentary MP:0005381 10.05 APOE CTSD GSK3B NOS3 PLAU PSEN1
10 endocrine/exocrine gland MP:0005379 10.04 APOE CTSD GSK3B NOS3 PLAU PSEN1
11 craniofacial MP:0005382 10 GSK3B IDE MAPT PLAU PSEN1 PSEN2
12 integument MP:0010771 9.97 APOE APP CTSD IDE MAPT PLAU
13 nervous system MP:0003631 9.85 APOE APP CTSD GSK3B IDE MAPT
14 muscle MP:0005369 9.73 APOE APP MAPT NOS3 PLAU PSEN1
15 renal/urinary system MP:0005367 9.43 APOE GSK3B MAPT NOS3 PSEN1 PSEN2
16 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 96)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
2
Polyestradiol phosphate Approved Phase 4 28014-46-2
3
Medroxyprogesterone acetate Approved, Investigational Phase 4 71-58-9
4
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
5 Estradiol valerate Approved, Investigational, Vet_approved Phase 4 979-32-8
6
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
7
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
8
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
9
Ondansetron Approved Phase 4 99614-02-5 4595
10
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
11
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
12
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
13 Estradiol 3-benzoate Phase 4
14 Estradiol 17 beta-cypionate Phase 4
15 Hormones Phase 4,Phase 1,Phase 2,Not Applicable
16 Contraceptive Agents Phase 4
17 Estrogens Phase 4,Phase 1,Phase 2
18
Medroxyprogesterone Phase 4 520-85-4 10631
19 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 1,Phase 2,Not Applicable
20 Hormone Antagonists Phase 4,Phase 1,Phase 2,Not Applicable
21 Progestins Phase 4
22 Phytoestrogens Phase 4,Phase 1,Phase 2
23 Contraceptive Agents, Male Phase 4
24 Antineoplastic Agents, Hormonal Phase 4
25 Peripheral Nervous System Agents Phase 4,Not Applicable
26 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Not Applicable
27 Autonomic Agents Phase 4,Not Applicable
28 Xenon Phase 4
29 Anesthetics, General Phase 4
30 BB 1101 Phase 4
31 Platelet Aggregation Inhibitors Phase 4
32 Anti-Inflammatory Agents Phase 4,Not Applicable
33 Anesthetics Phase 4
34 Central Nervous System Depressants Phase 4
35 Psychotropic Drugs Phase 4,Phase 2,Phase 3
36 HIV Protease Inhibitors Phase 4
37 Anti-Anxiety Agents Phase 4
38 Antipsychotic Agents Phase 4
39 glucocorticoids Phase 4
40 Serotonin Antagonists Phase 4
41 Serotonin Agents Phase 4,Phase 2,Phase 3
42 Antiemetics Phase 4
43
protease inhibitors Phase 4
44 Antipruritics Phase 4
45 Anesthetics, Inhalation Phase 4
46 Dermatologic Agents Phase 4
47 Tranquilizing Agents Phase 4
48 Gastrointestinal Agents Phase 4
49 Quetiapine Fumarate Phase 4 111974-72-2
50 Serotonin Uptake Inhibitors Phase 4,Phase 2,Phase 3

Interventional clinical trials:

(show all 42)
# 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 TRuE AD2 - An Efficacy and Safety Study of Ruxolitinib Cream in Adolescents and Adults With Atopic Dermatitis Recruiting NCT03745651 Phase 3 Ruxolitinib cream;Vehicle cream
5 Depression in Alzheimer's Disease-2 Completed NCT00086138 Phase 2, Phase 3 Sertraline (Zoloft);Placebo
6 Study of Baricitinib (LY3009104) in Adults With Moderate to Severe Atopic Dermatitis Completed NCT03334422 Phase 3 Baricitinib;Placebo
7 S-Equol in Alzheimer's Disease 2 Trial Recruiting NCT03101085 Phase 1, Phase 2 S-equol
8 Safety and Efficacy Study of Ad2/Hypoxia Inducible Factor (HIF)-1α/VP16 Gene Transfer in Patients With Intermittent Claudication Completed NCT00117650 Phase 2
9 Study of APH-1105 in Patients With Mild to Moderate Alzheimer's Disease Not yet recruiting NCT03806478 Phase 2 APH-1105
10 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
11 Safety and Efficacy of Piromelatine in Mild Alzheimer's Disease Patients (ReCOGNITION) Recruiting NCT02615002 Phase 2 Piromelatine;Placebo
12 Preliminary Efficacy and Safety Study of ST101 Plus Aricept in Alzheimer's Disease Completed NCT00842816 Phase 2 ST101;ST101;ST101;Placebo
13 Preliminary Efficacy and Safety Study of ST101 in Alzheimer's Disease Completed NCT00842673 Phase 2 ST101;ST101;ST101;Placebo
14 Physiotherapy on the Airway of Bruxist Children Completed NCT01178229 Phase 1, Phase 2
15 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
16 Development of NIC5-15 in the Treatment of Alzheimer's Disease Completed NCT00470418 Phase 2 NIC5-15;Placebo
17 Study to Explore the Optimal Dosage/Administration in Alzheimer's Disease Completed NCT01715350 Phase 2 PM012;Placebo
18 Far Infrared Treatment for Alzheimer's Disease Unknown status NCT00599469 Phase 1
19 Safety Study of the Effect of Scelectium Tortuosum (as Zembrin®)in Aged Normals Completed NCT01805518 Phase 1
20 Single-Ascending-Dose Study of BIIB076 in Healthy Volunteers and Participants With Alzheimer's Disease Recruiting NCT03056729 Phase 1 BIIB076;Placebo
21 Evaluation of a Diet in Patients With Senile Dementia Unknown status NCT01192529 Not Applicable
22 AcrySof® IQ ReSTOR® +2.5 D Multifocal Intraocular Lens (IOL) Model SN6AD2 [SV25T0] in Japan Completed NCT01605877 Not Applicable
23 Expanded Access With Trappsol(R) Cyclo (TM) for an Individual Patient With Late Onset Alzheimer's Disease No longer available NCT03624842 Trappsol (R) Cyclo (TM)
24 Clinical Investigation of AcrySof® IQ ReSTOR® +2.5 D Multifocal Intraocular Lens (IOL) Model SN6AD2 [SV25T0] Completed NCT01510717 Not Applicable
25 The Occurrence of the ApoE4 Allele in Agitated In-Patients With Late-Onset Alzheimer's Disease Completed NCT01329536
26 Measuring Brain Amyloid Plaque Load in Older Adults Using BAY 94-9172 Active, not recruiting NCT01222351 Not Applicable BAY 94-9172 (Florbetaben)
27 A Clinical Outcome Study of Two Multifocal Intraocular Lenses (IOL) in Cataract Patients Completed NCT01684007 Not Applicable
28 Response to Donepezil, Drug Plasma Concentration and the CYP2D6 and APOE Genetic Polymorphisms Completed NCT03349320
29 System-IGF-1 Pathway and Alzheimer's Disease Completed NCT00647478
30 Alzheimer's Disease Genetics Study Recruiting NCT00064870
31 Early-onset Alzheimer's Disease Phenotypes: Neuropsychology and Neural Networks Recruiting NCT03153371
32 Maximizing the Anti-inflammatory Effects of Strawberry Bioavailability Active, not recruiting NCT01856153 Not Applicable
33 Perioperative Research Into Memory, Genomics in the Intensive Therapy Unit: Alzheimer's Not yet recruiting NCT03393130
34 eVAluatIon of OLanzapine TreatmEnT Completed NCT02006862
35 Non-invasive Liver Screening for Risk Assessment for Coronary Heart Disease Completed NCT02779946
36 Effects of Visual Art Training on Dementia Completed NCT03175822 Not Applicable
37 Do Apolipoprotein E Polymorphisms Influence Risk of Cognitive Decline by Modulating Omega-3 Fatty Acid Metabolism? Completed NCT01577004 Not Applicable
38 The Clinical Application and Mechanism of Music Therapy (Mozart's Effect) on Epilepsy Completed NCT01892605 Not Applicable
39 Triple-branch Stent Graft Placement and Total-arch Replacement for the Treatment of Acute DeBakey I Aortic Dissection Recruiting NCT02622750 Early Phase 1
40 Growth Hormone Evaluation in the Elderly People Completed NCT02240043 Not Applicable
41 Acute Effects of Exercise in College Students With ADHD Recruiting NCT03666416 Not Applicable
42 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, Bone, Testes, Cortex, Colon, Heart, Breast
Sources

Publications for Alzheimer Disease 2

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Articles related to Alzheimer Disease 2:

(show top 50) (show all 154)
# 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
The p.R47H Variant of TREM2 Gene is Associated With Late-onset Alzheimer Disease in Colombian Population. ( 30222607 )
2018
3
Caregivers' Perspectives of Quality of Life of People With Young- and Late-Onset Alzheimer Disease. ( 29658428 )
2018
4
Evaluation of Gene-Based Family-Based Methods to Detect Novel Genes Associated With Familial Late Onset Alzheimer Disease. ( 29670507 )
2018
5
Inflammatory pathology markers (activated microglia and reactive astrocytes) in early and late onset Alzheimer disease: a post mortem study. ( 29044639 )
2018
6
Effects of "Essential AD2" Supplement on Blood Acetaldehyde Levels in Individuals Who Have Aldehyde Dehydrogenase (ALDH2) Deficiency. ( 29509552 )
2018
7
Epitope-Specific Humoral Responses to Human Cytomegalovirus Glycoprotein-B Vaccine With MF59: Anti-AD2 Levels Correlate With Protection From Viremia. ( 29528415 )
2018
8
Diagnostic Utility of the Shortened Version of the Wisconsin Card Sorting Test in Patients With Sporadic Late Onset Alzheimer Disease. ( 28859490 )
2017
9
Genetic Ancestry and Susceptibility to Late-Onset Alzheimer Disease (LOAD) in the Admixed Colombian Population. ( 28369008 )
2017
10
Late-Onset Alzheimer Disease. ( 28410660 )
2017
11
Early-versus Late-Onset Alzheimer Disease: Long-Term Functional Outcomes, Nursing Home Placement, and Risk Factors for Rate of Progression. ( 28626471 )
2017
12
Active and separate secretion of fiber and penton base during the early phase of Ad2 or Ad5 infection. ( 28264780 )
2017
13
Neutralizing antibodies against adenovirus type 2 in normal and HIV-1-infected subjects: Implications for use of Ad2 vectors in vaccines. ( 28301274 )
2017
14
Role of genes GSTM1, GSTT1, and MnSOD in the development of late-onset Alzheimer disease and their relationship with APOE*4. ( 25542503 )
2016
15
The Association Between Clusterin and APOE Polymorphisms and Late-Onset Alzheimer Disease in a Turkish Cohort. ( 27076484 )
2016
16
Discovery of gene-gene interactions across multiple independent data sets of late onset Alzheimer disease from the Alzheimer Disease Genetics Consortium. ( 26827652 )
2016
17
SORL1 mutations in early- and late-onset Alzheimer disease. ( 27822510 )
2016
18
Segregation of a rare TTC3 variant in an extended family with late-onset Alzheimer disease. ( 27066578 )
2016
19
Association between polymorphisms of the insulin-degrading enzyme gene and late-onset Alzheimer disease. ( 25414272 )
2015
20
Association of CLU and TLR2 gene polymorphisms with late-onset Alzheimer disease in a northwestern Iranian population. ( 26738351 )
2015
21
Early- and late-onset Alzheimer disease: Are they the same entity? ( 26546285 )
2015
22
Late-onset Alzheimer disease risk variants mark brain regulatory loci. ( 27066552 )
2015
23
Contrasts Between Patients With Lewy Body Dementia Syndromes and APOE-ε3/ε3 Patients With Late-onset Alzheimer Disease Dementia. ( 26280289 )
2015
24
Molecular basis for increased risk for late-onset Alzheimer disease due to the naturally occurring L28P mutation in apolipoprotein E4. ( 24644280 )
2014
25
Late-onset Alzheimer disease genetic variants in posterior cortical atrophy and posterior AD. ( 24670887 )
2014
26
Brain differences in infants at differential genetic risk for late-onset Alzheimer disease: a cross-sectional imaging study. ( 24276092 )
2014
27
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
28
The presence of antibodies against the AD2 epitope of cytomegalovirus glycoprotein B is associated with acute rejection after renal transplantation. ( 24215540 )
2014
29
KIAA1462, a coronary artery disease associated gene, is a candidate gene for late onset Alzheimer disease in APOE carriers. ( 24349219 )
2013
30
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
31
Association of GWAS top hits with late-onset Alzheimer disease in Korean population. ( 22975751 )
2013
32
Angiogenetic potential of Ad2/Hif-1α/VP16 after regional application in a preclinical pig model of chronic ischemia. ( 23391420 )
2013
33
Personality factors moderate the associations between apolipoprotein genotype and cognitive function as well as late onset Alzheimer disease. ( 23079898 )
2012
34
Key residues for controlling enantioselectivity of Halohydrin dehalogenase from Arthrobacter sp. strain AD2, revealed by structure-guided directed evolution. ( 22327597 )
2012
35
Draft genome sequences for Clostridium thermocellum wild-type strain YS and derived cellulose adhesion-defective mutant strain AD2. ( 22628515 )
2012
36
Microcephaly genes and risk of late-onset Alzheimer disease. ( 21297427 )
2011
37
PCDH11X variation is not associated with late-onset Alzheimer disease susceptibility. ( 20523261 )
2010
38
Amyloid-beta-Related Genes SORL1 and ACE are Genetically Associated With Risk for Late-onset Alzheimer Disease in the Chinese Population. ( 20625269 )
2010
39
Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities. ( 20885792 )
2010
40
Association between NOS3 gene G894T polymorphism and late-onset Alzheimer disease in a sample from Iran. ( 20505439 )
2010
41
Lack of association between the leptin receptor gene (LEPR) Gln223Arg polymorphism and late-onset Alzheimer disease. ( 20220325 )
2010
42
CALHM1 polymorphism is not associated with late-onset Alzheimer disease. ( 19472444 )
2009
43
[The expression of DJ-1 protein in proteomic analysis of late-onset Alzheimer disease]. ( 19576113 )
2009
44
Genetic association study on in and around the APOE in late-onset Alzheimer disease in Japanese. ( 19442637 )
2009
45
Trospium and cognition in patients with late onset Alzheimer disease. ( 19657549 )
2009
46
Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease. ( 19118814 )
2009
47
Vascular factors and markers of inflammation in offspring with a parental history of late-onset Alzheimer disease. ( 19884614 )
2009
48
SORL1 is genetically associated with increased risk for late-onset Alzheimer disease in the Belgian population. ( 18407551 )
2008
49
Linkage and association study of late-onset Alzheimer disease families linked to 9p21.3. ( 18761660 )
2008
50
Further examination of the candidate genes in chromosome 12p13 locus for late-onset Alzheimer disease. ( 18340469 )
2008
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

ClinVar genetic disease variations for Alzheimer Disease 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 APOE NM_000041.3(APOE): c.388T> C (p.Cys130Arg) single nucleotide variant other rs429358 GRCh37 Chromosome 19, 45411941: 45411941
2 APOE NM_000041.3(APOE): c.388T> C (p.Cys130Arg) single nucleotide variant other rs429358 GRCh38 Chromosome 19, 44908684: 44908684
Sources

Expression for Alzheimer Disease 2

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

Pathways for Alzheimer Disease 2

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

(show all 18)
# 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
 13.32 APOE APP GSK3B IDE MAPT PSEN1
2
Development HGF signaling pathway 22
Show member pathways
 12.51 GSK3B NOS3 PLAU PSEN1 PSEN2
3
Notch signaling pathway (KEGG) 37
Show member pathways
 12.38 GSK3B MAPT PSEN1 PSEN2
4
Neuroscience 4
12.27 APOE APP GSK3B MAPT PSEN1 PSEN2
5
Wnt / Hedgehog / Notch 4
12 GSK3B PSEN1 PSEN2
6
Presenilin-Mediated Signaling 64
11.82 APP GSK3B PSEN1 PSEN2
7
Reelin Pathway (Cajal-Retzius cells) 64
11.71 APOE APP GSK3B MAPT
8
G-protein signaling_Regulation of RAC1 activity 22
11.42 APOE APP GSK3B MAPT
9
Copper homeostasis 1
11.4 APP GSK3B MAPT
10
A-beta Signaling Pathways 65
11.29 APP CTSD GSK3B PSEN1 PSEN2
11
LKB1 signaling events 1
11.26 CTSD GSK3B PSEN2
12
PI3K-AKT-mTOR signaling pathway and therapeutic opportunities 1
11.05 GSK3B NOS3
13
Reelin signaling pathway 1
11.02 GSK3B MAPT
14
A-beta Pathways: Uptake and Degradation 65
11 APOE APP IDE
15
Canonical and Non-canonical Notch signaling 1
10.98 PSEN1 PSEN2
16
Alzheimers Disease Pathway 64
10.75 APOE APP GSK3B MAPT PSEN1 PSEN2
17
A-beta Pathways: Plaque Formation and APP Metabolism 65
10.72 APP CTSD IDE PSEN1 PSEN2
18
Notch Pathway 72
10.21 PSEN1 PSEN2
Sources

GO Terms for Alzheimer Disease 2

About this section

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 9.81 APOE GSK3B MAPT PSEN1
2 neuronal cell body GO:0043025 9.76 APOE MAPT PSEN1 PSEN2
3 axon GO:0030424 9.71 APP GSK3B MAPT PSEN1
4 blood microparticle GO:0072562 9.65 APOE BCHE SERPINA3
5 growth cone GO:0030426 9.61 APP MAPT PSEN1
6 extracellular space GO:0005615 9.56 APOE APP BCHE CETP CTSD IDE
7 smooth endoplasmic reticulum GO:0005790 9.52 APP PSEN1
8 high-density lipoprotein particle GO:0034364 9.49 APOE CETP
9 membrane raft GO:0045121 9.46 APP CTSD MAPT PSEN1
10 ciliary rootlet GO:0035253 9.37 APP PSEN1
11 nuclear envelope lumen GO:0005641 9.32 APP BCHE
12 extracellular region GO:0005576 9.28 APOE APP BCHE CETP CTSD IDE
13 main axon GO:0044304 9.26 APP MAPT

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

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.97 CTSD PLAU PSEN1 SERPINA3
2 neuron projection development GO:0031175 9.83 APP GSK3B MAPT
3 response to oxidative stress GO:0006979 9.82 APOE APP PSEN1
4 Notch signaling pathway GO:0007219 9.8 APP PSEN1 PSEN2
5 positive regulation of catalytic activity GO:0043085 9.77 APOE PSEN1 PSEN2
6 cholesterol metabolic process GO:0008203 9.77 APOE APP CETP
7 positive regulation of protein binding GO:0032092 9.69 APP GSK3B PSEN1
8 positive regulation of phosphorylation GO:0042327 9.68 APP PSEN1
9 membrane protein ectodomain proteolysis GO:0006509 9.67 PSEN1 PSEN2
10 positive regulation of dendritic spine development GO:0060999 9.67 APOE PSEN1
11 regulation of protein binding GO:0043393 9.66 APP PSEN1
12 response to lead ion GO:0010288 9.66 APP MAPT
13 vasodilation GO:0042311 9.65 APOE NOS3
14 nitric oxide mediated signal transduction GO:0007263 9.64 APOE NOS3
15 reverse cholesterol transport GO:0043691 9.64 APOE CETP
16 high-density lipoprotein particle remodeling GO:0034375 9.63 APOE CETP
17 low-density lipoprotein particle remodeling GO:0034374 9.62 APOE CETP
18 regulation of axon extension GO:0030516 9.61 APOE GSK3B
19 amyloid precursor protein metabolic process GO:0042982 9.61 APOE PSEN1
20 negative regulation of long-term synaptic potentiation GO:1900272 9.58 APOE APP
21 neuron projection maintenance GO:1990535 9.58 APP PSEN1
22 synapse organization GO:0050808 9.58 APP MAPT PSEN1
23 amyloid fibril formation GO:1990000 9.57 APP MAPT
24 negative regulation of platelet activation GO:0010544 9.56 APOE NOS3
25 Notch receptor processing GO:0007220 9.55 PSEN1 PSEN2
26 very-low-density lipoprotein particle remodeling GO:0034372 9.54 APOE CETP
27 amyloid precursor protein catabolic process GO:0042987 9.52 PSEN1 PSEN2
28 cellular response to amyloid-beta GO:1904646 9.5 APP GSK3B PSEN1
29 modulation of age-related behavioral decline GO:0090647 9.49 APP PSEN1
30 Notch receptor processing, ligand-dependent GO:0035333 9.48 PSEN1 PSEN2
31 negative regulation of low-density lipoprotein receptor activity GO:1905598 9.46 APP PSEN1
32 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.43 APP PSEN1
33 astrocyte activation involved in immune response GO:0002265 9.37 APP PSEN1
34 amyloid-beta metabolic process GO:0050435 9.33 IDE PSEN1 PSEN2
35 smooth endoplasmic reticulum calcium ion homeostasis GO:0051563 9.26 APP PSEN1
36 astrocyte activation GO:0048143 9.13 APP MAPT PSEN1
37 positive regulation of amyloid fibril formation GO:1905908 8.8 APOE APP PSEN1
38 proteolysis GO:0006508 10.02 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 cholesterol transporter activity GO:0017127 9.43 APOE CETP
4 dynactin binding GO:0034452 9.4 GSK3B MAPT
5 amyloid-beta binding GO:0001540 9.33 APOE BCHE IDE
6 aspartic endopeptidase activity, intramembrane cleaving GO:0042500 9.26 PSEN1 PSEN2
7 lipoprotein particle binding GO:0071813 8.96 APOE MAPT
8 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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