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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 58 76 30 6 74
Ad2 58 12 54 76
Alzheimer Disease Associated with Apoe4 58 12 76
Alzheimer Disease-2 58 12 13
Late Onset Alzheimer Disease 54 56
Alzheimer's Disease 2 12 15
Alzheimer Disease Associated with Apoe E4 54
Late Onset Familial Alzheimer Disease 54
Late-Onset Familial Alzheimer Disease 54
Alzheimer Disease 2, Late-Onset 58
Alzheimer Disease 2, Late Onset 12
Alzheimer Disease, Late Onset 74
Late-Onset Alzheimer Disease 76
Alzheimer Disease, Type 2 41
Alzheimer Disease Type 2 54
Lofad 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant allele (19q) with additional multifactorial component in late-onset cases


HPO:

33
alzheimer disease 2:
Onset and clinical course late onset
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Mental diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 34


External Ids:

Disease Ontology 12 DOID:0110035
OMIM 58 104310
MeSH 45 D000544
ICD10 34 G30
MedGen 43 C1863051
Sources

Summaries for Alzheimer Disease 2

About this section
NIH Rare Diseases : 54 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 Progesterone have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and liver, 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 : 76 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
Sources

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 65)
# Related Disease Score Top Affiliating Genes
1 posterior cortical atrophy 30.3 APOE MAPT
2 early-onset, autosomal dominant alzheimer disease 30.2 APP PSEN1 PSEN2
3 dementia 29.8 APOE APP BCHE MAPT PSEN1 PSEN2
4 arteries, anomalies of 29.7 APOE CETP NOS3
5 dementia, lewy body 29.5 APOE APP BCHE MAPT PSEN1
6 vascular dementia 29.2 APOE APP BCHE MAPT PSEN1 SERPINA3
7 alzheimer disease 27.3 APOE APP BCHE CTSD GSK3B IDE
8 alzheimer disease 19 11.8
9 alzheimer disease 6 11.5
10 alzheimer disease 18 11.5
11 senile plaque formation 10.3 APOE APP
12 alexia 10.3 APOE PSEN1
13 alzheimer disease 5 10.3
14 simultanagnosia 10.3 APOE MAPT
15 visual agnosia 10.3 PSEN1 PSEN2
16 nominal aphasia 10.2 MAPT PSEN1
17 alzheimer disease 4 10.2 APOE PSEN1 PSEN2
18 progressive non-fluent aphasia 10.2 MAPT PSEN1
19 behavioral variant of frontotemporal dementia 10.2 MAPT PSEN1
20 intracranial vasospasm 10.2 APOE NOS3
21 gait apraxia 10.2 APOE APP PSEN1
22 echolalia 10.2 MAPT PSEN1
23 alzheimer's disease 1 10.2 APOE APP IDE
24 adenosquamous gallbladder carcinoma 10.2 CTSD SERPINA3
25 semantic dementia 10.1 APOE MAPT PSEN1
26 amyloidosis 10.1 APOE APP PSEN1
27 communicating hydrocephalus 10.1 APOE MAPT
28 aneurysmal bone cysts 10.1 GSK3B MAPT
29 huntington disease-like 1 10.1 APOE CETP
30 speech and communication disorders 10.1 APOE MAPT PSEN1
31 alzheimer disease mitochondrial 10.1 APOE APP MAPT
32 binswanger's disease 10.1 APOE APP MAPT
33 hydrocephalus, normal-pressure 10.1 MAPT APOE
34 kluver-bucy syndrome 10.1 APP MAPT PSEN1
35 supranuclear palsy, progressive, 1 10.1 APOE APP MAPT
36 inclusion body myositis 10.1 APOE APP MAPT
37 breast cyst 10.1 CTSD SERPINA3
38 aging 10.1
39 alzheimer disease 9 10.1
40 cytomegalovirus infection 10.1
41 creutzfeldt-jakob disease 10.1 APOE MAPT SERPINA3
42 agraphia 10.0 BCHE MAPT PSEN1
43 endometrial adenosquamous carcinoma 10.0 PLAU SERPINA3
44 cerebrovascular disease 10.0 APOE APP MAPT
45 ischemic heart disease 10.0 NOS3 APOE
46 hydrocephalus 10.0 APOE APP MAPT
47 kohlschutter-tonz syndrome 9.9 APOE APP MAPT PSEN1
48 aphasia 9.9 APOE APP MAPT PSEN1
49 pick disease of brain 9.9 APOE APP MAPT PSEN1
50 disease of mental health 9.9 APOE APP MAPT PSEN1

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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Human phenotypes related to Alzheimer Disease 2:

33
# Description HPO Frequency HPO Source Accession
1 dementia 33 HP:0000726
2 parkinsonism 33 HP:0001300
3 neurofibrillary tangles 33 HP:0002185
4 alzheimer disease 33 HP:0002511
5 long-tract signs 33 HP:0002423

Symptoms via clinical synopsis from OMIM:

58
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

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

27 (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:

47 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.21 APOE APP CTSD GSK3B MAPT NOS3
2 cardiovascular system MP:0005385 10.2 APOE APP GSK3B IDE MAPT NOS3
3 cellular MP:0005384 10.19 APOE APP CTSD GSK3B MAPT NOS3
4 growth/size/body region MP:0005378 10.18 APOE APP CTSD GSK3B IDE MAPT
5 homeostasis/metabolism MP:0005376 10.17 APOE APP BCHE CTSD GSK3B IDE
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 digestive/alimentary MP:0005381 10.05 APOE CTSD GSK3B NOS3 PLAU PSEN1
9 endocrine/exocrine gland MP:0005379 10.04 APOE CTSD GSK3B NOS3 PLAU PSEN1
10 mortality/aging MP:0010768 10.02 APOE APP BCHE CTSD GSK3B MAPT
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 120)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
2
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
3
Medroxyprogesterone acetate Approved, Investigational Phase 4 71-58-9
4
Polyestradiol phosphate Approved Phase 4 28014-46-2
5
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
6
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
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 62-31-7, 51-61-6 681
10
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
11
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
12
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
13 Xenon Experimental Phase 4 7440-63-3
14 Estradiol 3-benzoate Phase 4
15 Contraceptive Agents, Male Phase 4
16 Estrogens Phase 4,Phase 1,Phase 2
17 Hormone Antagonists Phase 4,Phase 1,Phase 2,Not Applicable
18 Hormones Phase 4,Phase 1,Phase 2,Not Applicable
19 Antineoplastic Agents, Hormonal Phase 4
20 Progestins Phase 4
21 Phytoestrogens Phase 4,Phase 1,Phase 2
22 Estradiol 17 beta-cypionate Phase 4
23 Contraceptive Agents Phase 4
24 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 1,Phase 2,Not Applicable
25
Medroxyprogesterone Phase 4 520-85-4 10631
26 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Not Applicable
27 Peripheral Nervous System Agents Phase 4,Not Applicable
28 Autonomic Agents Phase 4,Not Applicable
29 Serotonin Agents Phase 4,Phase 2,Phase 3
30 Anesthetics, General Phase 4
31 Anti-Anxiety Agents Phase 4
32 Serotonin Antagonists Phase 4
33 Dermatologic Agents Phase 4
34 Platelet Aggregation Inhibitors Phase 4
35 Gastrointestinal Agents Phase 4
36 Antiemetics Phase 4
37 Anesthetics Phase 4
38
protease inhibitors Phase 4
39 glucocorticoids Phase 4
40 Psychotropic Drugs Phase 4,Phase 2,Phase 3
41 HIV Protease Inhibitors Phase 4
42 Anti-Inflammatory Agents Phase 4,Not Applicable
43 Anesthetics, Inhalation Phase 4
44 Antipruritics Phase 4
45 Antipsychotic Agents Phase 4
46 BB 1101 Phase 4
47 Tranquilizing Agents Phase 4
48 Central Nervous System Depressants Phase 4
49 Dopamine Antagonists Phase 4
50 Neurotransmitter Uptake Inhibitors Phase 4,Phase 2,Phase 3

Interventional clinical trials:

(show all 45)
# 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 Efficacy of γ-linolenic Acid and Thioctic Acid in Patients With Diabetic Neuropathy Completed NCT03914404 Phase 4 γ-linoleic acid and placebo(Thioctic Acid);Thioctic Acid and placebo(γ-linoleic acid)
5 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
6 Depression in Alzheimer's Disease-2 Completed NCT00086138 Phase 2, Phase 3 Sertraline (Zoloft);Placebo
7 Study of Baricitinib (LY3009104) in Adults With Moderate to Severe Atopic Dermatitis Completed NCT03334422 Phase 3 Baricitinib;Placebo
8 S-Equol in Alzheimer's Disease 2 Trial Recruiting NCT03101085 Phase 1, Phase 2 S-equol
9 Safety and Efficacy Study of Ad2/Hypoxia Inducible Factor (HIF)-1α/VP16 Gene Transfer in Patients With Intermittent Claudication Completed NCT00117650 Phase 2
10 Study of APH-1105 in Patients With Mild to Moderate Alzheimer's Disease Not yet recruiting NCT03806478 Phase 2 APH-1105
11 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
12 Safety and Efficacy of Piromelatine in Mild Alzheimer's Disease Patients (ReCOGNITION) Active, not recruiting NCT02615002 Phase 2 Piromelatine;Placebo
13 Preliminary Efficacy and Safety Study of ST101 Plus Aricept in Alzheimer's Disease Completed NCT00842816 Phase 2 ST101;ST101;ST101;Placebo
14 Preliminary Efficacy and Safety Study of ST101 in Alzheimer's Disease Completed NCT00842673 Phase 2 ST101;ST101;ST101;Placebo
15 Physiotherapy on the Airway of Bruxist Children Completed NCT01178229 Phase 1, Phase 2
16 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
17 Development of NIC5-15 in the Treatment of Alzheimer's Disease Completed NCT00470418 Phase 2 NIC5-15;Placebo
18 Study to Explore the Optimal Dosage/Administration in Alzheimer's Disease Completed NCT01715350 Phase 2 PM012;Placebo
19 Far Infrared Treatment for Alzheimer's Disease Unknown status NCT00599469 Phase 1
20 Safety Study of the Effect of Scelectium Tortuosum (as Zembrin®)in Aged Normals Completed NCT01805518 Phase 1
21 Single-Ascending-Dose Study of BIIB076 in Healthy Volunteers and Participants With Alzheimer's Disease Recruiting NCT03056729 Phase 1 BIIB076;Placebo
22 Evaluation of a Diet in Patients With Senile Dementia Unknown status NCT01192529 Not Applicable
23 Triple-branch Stent Graft Placement and Total-arch Replacement for the Treatment of Acute DeBakey I Aortic Dissection Unknown status NCT02622750 Early Phase 1
24 AcrySof® IQ ReSTOR® +2.5 D Multifocal Intraocular Lens (IOL) Model SN6AD2 [SV25T0] in Japan Completed NCT01605877 Not Applicable
25 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)
26 Clinical Investigation of AcrySof® IQ ReSTOR® +2.5 D Multifocal Intraocular Lens (IOL) Model SN6AD2 [SV25T0] Completed NCT01510717 Not Applicable
27 The Occurrence of the ApoE4 Allele in Agitated In-Patients With Late-Onset Alzheimer's Disease Completed NCT01329536
28 Measuring Brain Amyloid Plaque Load in Older Adults Using BAY 94-9172 Active, not recruiting NCT01222351 Not Applicable BAY 94-9172 (Florbetaben)
29 A Clinical Outcome Study of Two Multifocal Intraocular Lenses (IOL) in Cataract Patients Completed NCT01684007 Not Applicable
30 Response to Donepezil, Drug Plasma Concentration and the CYP2D6 and APOE Genetic Polymorphisms Completed NCT03349320
31 System-IGF-1 Pathway and Alzheimer's Disease Completed NCT00647478
32 Short-term Effects of an Inpatient Geriatric Consultation Team on Geriatric Syndrome Patients Completed NCT03840759 Not Applicable
33 Alzheimer's Disease Genetics Study Recruiting NCT00064870
34 Early-onset Alzheimer's Disease Phenotypes: Neuropsychology and Neural Networks Recruiting NCT03153371
35 Maximizing the Anti-inflammatory Effects of Strawberry Bioavailability Active, not recruiting NCT01856153 Not Applicable
36 Perioperative Research Into Memory, Genomics in the Intensive Therapy Unit: Alzheimer's Not yet recruiting NCT03393130
37 eVAluatIon of OLanzapine TreatmEnT Completed NCT02006862
38 Non-invasive Liver Screening for Risk Assessment for Coronary Heart Disease Completed NCT02779946
39 Effects of Visual Art Training on Dementia Completed NCT03175822 Not Applicable
40 Do Apolipoprotein E Polymorphisms Influence Risk of Cognitive Decline by Modulating Omega-3 Fatty Acid Metabolism? Completed NCT01577004 Not Applicable
41 The Clinical Application and Mechanism of Music Therapy (Mozart's Effect) on Epilepsy Completed NCT01892605 Not Applicable
42 Growth Hormone Evaluation in the Elderly People Completed NCT02240043 Not Applicable
43 Acute Effects of Exercise in College Students With ADHD Recruiting NCT03666416 Not Applicable
44 Brain Study of Patients With Frontal Lobe Dementia and Parkinsonian Disorders Terminated NCT00001178
45 SIESTA: Sleep Intervention to Enhance Cognitive Status and Reduce Beta Amyloid Not yet recruiting NCT03954210 Not Applicable

Search NIH Clinical Center for Alzheimer Disease 2

Sources

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 30 APOE
Sources

Anatomical Context for Alzheimer Disease 2

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MalaCards organs/tissues related to Alzheimer Disease 2:

42
Brain, Heart, Liver, Lung, Testes, T Cells, Cortex
Sources

Publications for Alzheimer Disease 2

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Articles related to Alzheimer Disease 2:

(show top 50) (show all 205)
# Title Authors Year
1
Association of Variants in PINX1 and TREM2 With Late-Onset Alzheimer Disease. ( 31058951 )
2019
2
Late-onset Alzheimer Disease. ( 30707185 )
2019
3
The p.R47H Variant of TREM2 Gene is Associated With Late-onset Alzheimer Disease in Colombian Population. ( 30222607 )
2018
4
Caregivers' Perspectives of Quality of Life of People With Young- and Late-Onset Alzheimer Disease. ( 29658428 )
2018
5
Evaluation of Gene-Based Family-Based Methods to Detect Novel Genes Associated With Familial Late Onset Alzheimer Disease. ( 29670507 )
2018
6
Association of lectin-like oxidized low density lipoprotein receptor 1 (OLR1) polymorphisms with late-onset Alzheimer disease in Han Chinese. ( 29951494 )
2018
7
Inflammatory pathology markers (activated microglia and reactive astrocytes) in early and late onset Alzheimer disease: a post mortem study. ( 29044639 )
2018
8
Early- and late-onset Alzheimer disease: Are they the same entity? ( 26546285 )
2018
9
Effects of "Essential AD2" Supplement on Blood Acetaldehyde Levels in Individuals Who Have Aldehyde Dehydrogenase (ALDH2) Deficiency. ( 29509552 )
2018
10
Epitope-Specific Humoral Responses to Human Cytomegalovirus Glycoprotein-B Vaccine With MF59: Anti-AD2 Levels Correlate With Protection From Viremia. ( 29528415 )
2018
11
Diagnostic Utility of the Shortened Version of the Wisconsin Card Sorting Test in Patients With Sporadic Late Onset Alzheimer Disease. ( 28859490 )
2017
12
Early-versus Late-Onset Alzheimer Disease: Long-Term Functional Outcomes, Nursing Home Placement, and Risk Factors for Rate of Progression. ( 28626471 )
2017
13
Genetic Ancestry and Susceptibility to Late-Onset Alzheimer Disease (LOAD) in the Admixed Colombian Population. ( 28369008 )
2017
14
Late-Onset Alzheimer Disease. ( 28410660 )
2017
15
Active and separate secretion of fiber and penton base during the early phase of Ad2 or Ad5 infection. ( 28264780 )
2017
16
Neutralizing antibodies against adenovirus type 2 in normal and HIV-1-infected subjects: Implications for use of Ad2 vectors in vaccines. ( 28301274 )
2017
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
The Association Between Clusterin and APOE Polymorphisms and Late-Onset Alzheimer Disease in a Turkish Cohort. ( 27076484 )
2016
20
Discovery of gene-gene interactions across multiple independent data sets of late onset Alzheimer disease from the Alzheimer Disease Genetics Consortium. ( 26827652 )
2016
21
Role of genes GSTM1, GSTT1, and MnSOD in the development of late-onset Alzheimer disease and their relationship with APOE*4. ( 25542503 )
2016
22
Application of Long Sequence Reads To Improve Genomes for Clostridium thermocellum AD2, Clostridium thermocellum LQRI, and Pelosinus fermentans R7. ( 27688341 )
2016
23
Late-onset Alzheimer disease risk variants mark brain regulatory loci. ( 27066552 )
2015
24
Association of CLU and TLR2 gene polymorphisms with late-onset Alzheimer disease in a northwestern Iranian population. ( 26738351 )
2015
25
New cardiovascular targets to prevent late onset Alzheimer disease. ( 25987416 )
2015
26
Contrasts Between Patients With Lewy Body Dementia Syndromes and APOE-ε3/ε3 Patients With Late-onset Alzheimer Disease Dementia. ( 26280289 )
2015
27
Association between polymorphisms of the insulin-degrading enzyme gene and late-onset Alzheimer disease. ( 25414272 )
2015
28
Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study. ( 25199842 )
2014
29
Functional connectivity in autosomal dominant and late-onset Alzheimer disease. ( 25069482 )
2014
30
The value of biomarker comparisons between autosomal dominant and late-onset Alzheimer disease. ( 25070071 )
2014
31
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
32
Molecular basis for increased risk for late-onset Alzheimer disease due to the naturally occurring L28P mutation in apolipoprotein E4. ( 24644280 )
2014
33
Late-onset Alzheimer disease genetic variants in posterior cortical atrophy and posterior AD. ( 24670887 )
2014
34
Evaluation of late-onset Alzheimer disease genetic susceptibility risks in a Canadian population. ( 24176626 )
2014
35
Brain differences in infants at differential genetic risk for late-onset Alzheimer disease: a cross-sectional imaging study. ( 24276092 )
2014
36
The presence of antibodies against the AD2 epitope of cytomegalovirus glycoprotein B is associated with acute rejection after renal transplantation. ( 24215540 )
2014
37
Fourth Canadian Consensus Conference on the Diagnosis and Treatment of Dementia: recommendations for family physicians. ( 24829003 )
2014
38
KIAA1462, a coronary artery disease associated gene, is a candidate gene for late onset Alzheimer disease in APOE carriers. ( 24349219 )
2013
39
Alzheimer disease: Joining the dots between APOE ε4 and late-onset Alzheimer disease via integrative genomics. ( 23938735 )
2013
40
Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans. ( 23571587 )
2013
41
Deciphering the mechanism underlying late-onset Alzheimer disease. ( 23183882 )
2013
42
Exploration of deleterious single nucleotide polymorphisms in late-onset Alzheimer disease susceptibility genes. ( 22960267 )
2013
43
Association of GWAS top hits with late-onset Alzheimer disease in Korean population. ( 22975751 )
2013
44
Awareness and its association with affective symptoms in young-onset and late-onset Alzheimer disease: a prospective study. ( 22992719 )
2013
45
Angiogenetic potential of Ad2/Hif-1α/VP16 after regional application in a preclinical pig model of chronic ischemia. ( 23391420 )
2013
46
Personality factors moderate the associations between apolipoprotein genotype and cognitive function as well as late onset Alzheimer disease. ( 23079898 )
2012
47
Novel late-onset Alzheimer disease loci variants associate with brain gene expression. ( 22722634 )
2012
48
Do epigenetic pathways initiate late onset Alzheimer disease (LOAD): towards a new paradigm. ( 22300405 )
2012
49
Extended kindred with recessive late-onset Alzheimer disease maps to locus 8p22-p21.2: a genome-wide linkage analysis. ( 22354140 )
2012
50
Atypical presentation of a novel Presenilin 1 R377W mutation: sporadic, late-onset Alzheimer disease with epilepsy and frontotemporal atrophy. ( 21822699 )
2012
Sources

Variations for Alzheimer Disease 2

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

76
# 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_000041.4(APOE): c.388T> C (p.Cys130Arg) single nucleotide variant other rs429358 GRCh38 Chromosome 19, 44908684: 44908684
2 APOE NM_000041.4(APOE): c.388T> C (p.Cys130Arg) single nucleotide variant other rs429358 GRCh37 Chromosome 19, 45411941: 45411941
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. 67
Show member pathways
 13.33 APOE APP GSK3B IDE MAPT PSEN1
2
Development HGF signaling pathway 23
Show member pathways
 12.51 GSK3B NOS3 PLAU PSEN1 PSEN2
3
Notch signaling pathway (KEGG) 1
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
11.99 GSK3B PSEN1 PSEN2
6
Presenilin-Mediated Signaling 65
11.82 APP GSK3B PSEN1 PSEN2
7
Reelin Pathway (Cajal-Retzius cells) 65
11.71 APOE APP GSK3B MAPT
8
G-protein signaling_Regulation of RAC1 activity 23
11.42 APOE APP GSK3B MAPT
9
Copper homeostasis 1
11.4 APP GSK3B MAPT
10
A-beta Signaling Pathways 66
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
11.03 GSK3B MAPT
14
A-beta Pathways: Uptake and Degradation 66
11 APOE APP IDE
15
Canonical and Non-canonical Notch signaling 1
10.98 PSEN1 PSEN2
16
Alzheimers Disease Pathway 65
10.75 APOE APP GSK3B MAPT PSEN1 PSEN2
17
A-beta Pathways: Plaque Formation and APP Metabolism 66
10.72 APP CTSD IDE PSEN1 PSEN2
18
Notch Pathway 73
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 9.8 APOE GSK3B MAPT PSEN1
2 neuronal cell body GO:0043025 9.73 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 9.63 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 9.51 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 40)
# 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 9.81 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 9.75 APOE APP CETP
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 phosphorylation GO:0042327 9.68 APP PSEN1
10 membrane protein ectodomain proteolysis GO:0006509 9.67 PSEN1 PSEN2
11 positive regulation of dendritic spine development GO:0060999 9.67 APOE PSEN1
12 regulation of protein binding GO:0043393 9.66 APP PSEN1
13 response to lead ion GO:0010288 9.66 APP MAPT
14 vasodilation GO:0042311 9.65 APOE NOS3
15 nitric oxide mediated signal transduction GO:0007263 9.65 APOE NOS3
16 positive regulation of protein binding GO:0032092 9.65 APP GSK3B PSEN1
17 reverse cholesterol transport GO:0043691 9.64 APOE CETP
18 high-density lipoprotein particle remodeling GO:0034375 9.63 APOE CETP
19 low-density lipoprotein particle remodeling GO:0034374 9.62 APOE CETP
20 regulation of axon extension GO:0030516 9.62 APOE GSK3B
21 amyloid precursor protein metabolic process GO:0042982 9.61 APOE PSEN1
22 negative regulation of long-term synaptic potentiation GO:1900272 9.59 APOE APP
23 neuron projection maintenance GO:1990535 9.58 APP PSEN1
24 synapse organization GO:0050808 9.58 APP MAPT PSEN1
25 amyloid fibril formation GO:1990000 9.57 APP MAPT
26 negative regulation of platelet activation GO:0010544 9.56 APOE NOS3
27 Notch receptor processing GO:0007220 9.55 PSEN1 PSEN2
28 very-low-density lipoprotein particle remodeling GO:0034372 9.54 APOE CETP
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 cellular response to amyloid-beta GO:1904646 9.5 APP GSK3B PSEN1
32 Notch receptor processing, ligand-dependent GO:0035333 9.49 PSEN1 PSEN2
33 negative regulation of low-density lipoprotein receptor activity GO:1905598 9.46 APP PSEN1
34 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.43 APP PSEN1
35 astrocyte activation involved in immune response GO:0002265 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 9.26 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 10.01 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 9.65 CTSD IDE PLAU PSEN1 PSEN2
3 cholesterol transporter activity GO:0017127 9.4 APOE CETP
4 dynactin binding GO:0034452 9.37 GSK3B MAPT
5 amyloid-beta binding GO:0001540 9.33 APOE BCHE IDE
6 aspartic endopeptidase activity, intramembrane cleaving GO:0042500 9.32 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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