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AD2
MCID: ALZ049
MIFTS: 49

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 56 73 29 6 71
Ad2 56 12 52 73
Alzheimer Disease Associated with Apoe4 56 12 73
Late Onset Alzheimer Disease 52 54
Alzheimer's Disease 2 12 15
Alzheimer Disease-2 12 13
Alzheimer Disease Associated with Apoe E4 52
Late Onset Familial Alzheimer Disease 52
Late-Onset Familial Alzheimer Disease 52
Alzheimer Disease 2, Late-Onset 56
Alzheimer Disease 2, Late Onset 12
Alzheimer Disease, Late Onset 71
Late-Onset Alzheimer Disease 73
Alzheimer Disease, Type 2 39
Alzheimer Disease Type 2 52
Lofad 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant allele (19q) with additional multifactorial component in late-onset cases


HPO:

31
alzheimer disease 2:
Inheritance autosomal dominant inheritance
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: 32


External Ids:

Disease Ontology 12 DOID:0110035
OMIM 56 104310
MeSH 43 D000544
ICD10 32 G30
MedGen 41 C1863051
UMLS 71 C0494463 C1863051
Sources

Summaries for Alzheimer Disease 2

About this section
NIH Rare Diseases : 52 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 susceptibility genes 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. T here 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 9 and posterior cortical atrophy. An important gene associated with Alzheimer Disease 2 is APOE (Apolipoprotein E), and among its related pathways/superpathways are Parkinson disease and Notch Signaling Pathway (WikiPathways). The drugs Galantamine and Memantine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and endothelial, 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 : 73 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.

More information 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 112)
# Related Disease Score Top Affiliating Genes
1 alzheimer disease 9 32.5 PSEN1 MAPT
2 posterior cortical atrophy 30.0 MAPT APOE
3 early-onset, autosomal dominant alzheimer disease 29.9 PSEN2 PSEN1 APP
4 alzheimer disease mitochondrial 29.9 MAPT APOE
5 alzheimer disease 3 29.3 PSEN2 PSEN1 APOE
6 stroke, ischemic 29.0 SERPINA3 PSEN1 MAPT APOE
7 creutzfeldt-jakob disease 28.8 SERPINA3 MAPT APP APOE
8 diabetes mellitus, noninsulin-dependent 28.5 SERPINA3 IDE BCHE APP APOE
9 aphasia 28.2 PSEN2 PSEN1 MAPT APP APOE
10 vascular dementia 28.1 SERPINA3 PSEN1 MAPT BCHE APP APOE
11 alzheimer disease 27.3 SERPINA3 PSEN2 PSEN1 MAPT IDE BCHE
12 cerebral amyloid angiopathy, cst3-related 27.2 SERPINA3 PSEN2 PSEN1 MAPT IDE APP
13 dementia, lewy body 27.2 SERPINA3 PSEN2 PSEN1 MAPT BCHE APP
14 parkinson disease, late-onset 27.1 SERPINA3 PSEN2 PSEN1 MAPT BCHE APP
15 dementia 26.9 SERPINA3 PSEN2 PSEN1 MAPT IDE BCHE
16 alzheimer disease 6 12.0
17 alzheimer disease 5 11.8
18 alzheimer disease 18 11.7
19 alzheimer disease 19 11.5
20 hpa i recognition polymorphism, beta-globin-related 10.3
21 alzheimer disease 8 10.2
22 residual stage of open angle glaucoma 10.2 APP APOE
23 senile plaque formation 10.2 APP APOE
24 leukemia, acute lymphoblastic 10.2
25 skin disease 10.2
26 liver cirrhosis 10.2
27 cytomegalovirus infection 10.2
28 alzheimer's disease 1 10.2 APP APOE
29 cerebral atherosclerosis 10.1 SERPINA3 APOE
30 amyloidosis, finnish type 10.1 SERPINA3 APOE
31 hemorrhage, intracerebral 10.1 APP APOE
32 sleep disorder 10.1
33 cerebral amyloid angiopathy, itm2b-related, 2 10.1 SERPINA3 APP
34 siderosis 10.0 SERPINA3 APOE
35 alzheimer disease 10 10.0 MAPT APOE
36 age-related hearing loss 10.0 MAPT APOE
37 nominal aphasia 10.0 MAPT APOE
38 chromosome 17q21.31 duplication syndrome 10.0 MAPT APP
39 nervous system disease 10.0 SERPINA3 APP APOE
40 progressive non-fluent aphasia 10.0 PSEN1 MAPT
41 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 9.9 SERPINA3 APP APOE
42 alcohol dependence 9.9
43 arteries, anomalies of 9.9
44 proteasome-associated autoinflammatory syndrome 1 9.9
45 alveolar soft part sarcoma 9.9
46 alzheimer disease 11 9.9
47 alzheimer disease 13 9.9
48 alzheimer disease 14 9.9
49 alzheimer disease 15 9.9
50 hyperlipoproteinemia, type iii 9.9

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:

31
# Description HPO Frequency HPO Source Accession
1 dementia 31 HP:0000726
2 parkinsonism 31 HP:0001300
3 neurofibrillary tangles 31 HP:0002185
4 alzheimer disease 31 HP:0002511
5 long-tract signs 31 HP:0002423

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Alzheimer Disease 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.63 APOE APP IDE MAPT PSEN1 PSEN2
2 homeostasis/metabolism MP:0005376 9.56 APOE APP BCHE IDE MAPT PSEN1
3 integument MP:0010771 9.17 APOE APP IDE MAPT PSEN1 PSEN2
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 all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Galantamine Approved Phase 4 357-70-0 9651
2
Memantine Approved, Investigational Phase 4 19982-08-2 4054
3
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
4 Cholinergic Agents Phase 4
5 Cholinesterase Inhibitors Phase 4
6 Neurotransmitter Agents Phase 4
7 Excitatory Amino Acid Antagonists Phase 4
8 Antiparkinson Agents Phase 4
9 Dopamine Agents Phase 4
10
Varenicline Approved, Investigational Phase 2 249296-44-4 5310966
11
Equol Investigational Phase 1, Phase 2 531-95-3 91469
12 Nicotinic Agonists Phase 2
13 Hormones Phase 1, Phase 2
14 Hormone Antagonists Phase 1, Phase 2
15 Phytoestrogens Phase 1, Phase 2
16 Estrogens Phase 1, Phase 2
17
Gemfibrozil Approved Phase 1 25812-30-0 3463
18 Cytochrome P-450 Enzyme Inhibitors Phase 1
19 Hypolipidemic Agents Phase 1
20 Lipid Regulating Agents Phase 1
21 Antimetabolites Phase 1
22
Donepezil Approved 120014-06-4 3152
23
Rivastigmine Approved, Investigational 123441-03-2 77991
24
Norepinephrine Approved 51-41-2 439260
25
tannic acid Approved 1401-55-4
26
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
27 Fluorodeoxyglucose F18
28 Radiopharmaceuticals
29 Olive

Interventional clinical trials:

(show all 27)
# Name Status NCT ID Phase Drugs
1 Changes of Biological Markers and Brain PET Imaging and Clinical Effects of Memantine for Patients With Moderate to Severe Alzheimer's Disease: a 24 Week Double-blind, Randomized, Placebo-Controlled Study Completed NCT00800709 Phase 4 Memantine
2 Competence Network - Dementia (BMBF) "Pharmacological and Psychosocial Treatment" (Modul E.2) Part II: The Efficacy of a Combination Regimen in Patients With Mild to Moderate Probable Alzheimer's Disease Completed NCT01921972 Phase 4 Galantamine CR;Memantine;Placebo
3 A Phase 2 Multicenter, Double-Blind, Placebo-Controlled, Crossover Trial of Varenicline Tartrate (CP-526,555) in Patients With Mild to Moderate Alzheimer's Disease Completed NCT00744978 Phase 2 Varenicline;Placebo
4 S-Equol in Alzheimer's Disease 2 (SEAD2) Trial Recruiting NCT03101085 Phase 1, Phase 2 S-equol
5 Revitalizing Cognition in Older Adults at Risk for Alzheimer's Disease With Near-Infrared Photobiomodulation Not yet recruiting NCT04018092 Phase 2
6 An Open-Label, Nonrandomized Study To Evaluate The Potential Pharmacokinetic Interaction Between SAM-531 and Gemfibrozil, A Cytochrome P-450 2C8 Inhibitor, When Coadministered Orally To Healthy Young Adult Subjects Completed NCT00966966 Phase 1 SAM-531 and gemfibrozil
7 New Proteins in Body Fluids as Potential Biomarker for Alzheimer's Disease: a Pilot Study Unknown status NCT01773915
8 Clinical Response to Donepezil in Mild and Moderate Dementia: Relationship to the Drug Plasma Concentration and the CYP2D6 and APOE Genetic Polymorphisms Completed NCT03349320
9 The Predictive Factors of Good Clinical Response to Cholinesterase Inhibitors in Mild and Moderate Alzheimer Disease and Mixed Dementia: a Naturalistic Study Completed NCT02187276 cholinesterase inhibitors
10 The Effect of the Practice of Tai Chi 6-Form Sports Apparatus and Mental Training on Cognition, Self Care, Mood and General Health in Patients With Mild and Moderate Alzheimer's Disease: a Prospective Study. Completed NCT02978768
11 An Open-Label Study to Evaluate the Safety and Efficacy of Transcranial Electromagnetic Treatment (TEMT) for the Treatment of Alzheimer's Disease Completed NCT02958930
12 National Cell Repository for Alzheimer's Disease (NCRAD) Recruiting NCT00064870
13 Contribution of a Semantic Therapy on a Tactile Tablet in the Alzheimer's Disease, Early and Late Onset Recruiting NCT03047694
14 A Non-Interventional Pilot Study to Explore the Role of Gut Flora in Alzheimer's Disease Recruiting NCT04100889
15 China Cognition and Aging Study: a Multi-center, National-wide, Longitudinal Study in China Recruiting NCT03653156
16 Detecting Dementia Earlier: Using Spatial & Episodic Memory Tests to More Accurately Predict Progression From Mild Cognitive Impairment to Alzheimer's Disease Recruiting NCT03900936
17 Focus on the Locus Coeruleus Network With 7 T MRI: Link to Memory (Dys)Function Recruiting NCT02363504
18 BAY 94-9172 PET/CT in Cognitively Normal Older Adults, Older Adults With Mild Cognitive Impairment, and Older Adults With Alzheimer's Disease Active, not recruiting NCT01222351 BAY 94-9172 (Florbetaben)
19 Cerebrospinal Fluid Markers of Synaptic Injury and Functional Connectivity in Alzheimer's Disease Active, not recruiting NCT03300726
20 Novel Tailored Network-based rTMS Treatments in Alzheimer's Disease: an Integrated Multiimaging Approach Active, not recruiting NCT04263194
21 Aerobic Exercise in Alzheimer's Disease: Cognition and Hippocampal Volume Effects Active, not recruiting NCT01954550
22 An Open-Label Extension Study Investigating the Safety and Efficacy of Transcranial Electromagnetic Treatment Against Alzheimer's Disease Active, not recruiting NCT03927040
23 Biodistribution of [11C]Acetoacetate/[18F]Fluorodeoxyglucose in Subjects With Varying Risk Factors for Alzheimer's Disease and Subjects on a Diet Intervention Active, not recruiting NCT03130036
24 Management of Dementia With Olive Oil Leaves - GOLDEN Active, not recruiting NCT04440020
25 Dementia Risk and Dynamic Response to Exercise Enrolling by invitation NCT04009629
26 Reducing African Americans' Alzheimer's Disease Risk Through Exercise (RAATE)" Not yet recruiting NCT03890861
27 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)

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:

40
Brain, Testes, Endothelial, Cortex, Liver
Sources

Publications for Alzheimer Disease 2

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Articles related to Alzheimer Disease 2:

(show top 50) (show all 97)
# Title Authors PMID Year
1
Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. 56 6
8346443 1993
2
Reduced grid-cell-like representations in adults at genetic risk for Alzheimer's disease. 56
26494756 2015
3
Fourth Canadian Consensus Conference on the Diagnosis and Treatment of Dementia: recommendations for family physicians. 6
24829003 2014
4
EFNS guidelines for the diagnosis and management of Alzheimer's disease. 6
20831773 2010
5
Apolipoprotein E (APOE) genotype has dissociable effects on memory and attentional-executive network function in Alzheimer's disease. 56
20479234 2010
6
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 6
20298421 2010
7
Preventing Alzheimer's disease and cognitive decline. 6
21500874 2010
8
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. 56
19734902 2009
9
The effect of APOE genotype on clinical phenotype in Alzheimer disease. 56
17310043 2007
10
The effect of APOE genotype on clinical phenotype in Alzheimer disease. 56
16894123 2006
11
Genome scan on Swedish Alzheimer's disease families. 56
16288313 2006
12
Familial Alzheimer disease in Latinos: interaction between APOE, stroke, and estrogen replacement. 56
16401842 2006
13
APOE genotype and cognitive decline in a middle-aged cohort. 6
15668424 2005
14
Impact of APOE in mild cognitive impairment. 6
15557508 2004
15
Allelic expression of APOE in human brain: effects of epsilon status and promoter haplotypes. 56
15385439 2004
16
APOE-epsilon4 predicts dementia but not other psychiatric disorders after traumatic brain injury. 6
15326261 2004
17
Longitudinal changes in cognition and behavior in asymptomatic carriers of the APOE e4 allele. 6
15184602 2004
18
Accelerated evolution of brain atrophy and "black holes" in MS patients with APOE-epsilon 4. 6
15048896 2004
19
ApoE and clusterin cooperatively suppress Abeta levels and deposition: evidence that ApoE regulates extracellular Abeta metabolism in vivo. 6
14741101 2004
20
Functional brain abnormalities in young adults at genetic risk for late-onset Alzheimer's dementia. 56
14688411 2004
21
Apolipoprotein E epsilon 4 and short-term recovery from predominantly mild brain injury. 6
11940689 2002
22
APOE genotype influences acquisition and recall following traumatic brain injury. 6
11940706 2002
23
Accelerated hippocampal atrophy in Alzheimer's disease with apolipoprotein E epsilon4 allele. 6
11835377 2002
24
Familial Alzheimer disease among Caribbean Hispanics: a reexamination of its association with APOE. 56
11790235 2002
25
Declining brain activity in cognitively normal apolipoprotein E epsilon 4 heterozygotes: A foundation for using positron emission tomography to efficiently test treatments to prevent Alzheimer's disease. 56
11248079 2001
26
Apolipoprotein E-epsilon4 genotype predicts a poor outcome in survivors of traumatic brain injury. 6
9932938 1999
27
Association of apolipoprotein E polymorphism with outcome after head injury. 6
10213549 1997
28
Apolipoprotein E epsilon4 association with dementia in a population-based study: The Framingham study. 6
8618665 1996
29
Relative risk of Alzheimer disease and age-at-onset distributions, based on APOE genotypes among elderly African Americans, Caucasians, and Hispanics in New York City. 6
8644717 1996
30
Preclinical evidence of Alzheimer's disease in persons homozygous for the epsilon 4 allele for apolipoprotein E. 56
8592548 1996
31
Genetic association and linkage analysis of the apolipoprotein CII locus and familial Alzheimer's disease. 56
1349467 1992
32
Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage. 56
2035524 1991
33
Linkage analysis of familial Alzheimer disease, using chromosome 21 markers. 56
1998342 1991
34
Genetic linkage studies in Alzheimer's disease families. 56
3197787 1988
35
The affected-pedigree-member method of linkage analysis. 56
3422543 1988
36
Exclusion mapping. 56
3669048 1987
37
Isolation, characterization, and mapping to chromosome 19 of the human apolipoprotein E gene. 6
3922972 1985
38
Nucleotide sequence and structure of the human apolipoprotein E gene. 6
2987927 1985
39
Human E apoprotein heterogeneity. Cysteine-arginine interchanges in the amino acid sequence of the apo-E isoforms. 6
7263700 1981
40
Auditory Input and Postural Control in Adults: A Narrative Review. 61
32163114 2020
41
Progressive Tau Accumulation in Alzheimer Disease: 2-Year Follow-up Study. 61
30926651 2019
42
Fibrosis of the Choroid Plexus Filtration Membrane. 61
27444353 2016
43
A protective mutation against Alzheimer disease? 61
23060947 2012
44
Nanopore analysis: An emerging technique for studying the folding and misfolding of proteins. 61
22421211 2012
45
Proton pump inhibitor lansoprazole is a nuclear liver X receptor agonist. 54
20060385 2010
46
APOE mRNA and protein expression in postmortem brain are modulated by an extended haplotype structure. 54
19554612 2010
47
Concordant association of insulin degrading enzyme gene (IDE) variants with IDE mRNA, Abeta, and Alzheimer's disease. 54
20098734 2010
48
Most rapid cognitive decline in APOE epsilon4 negative Alzheimer's disease with early onset. 54
19335933 2009
49
Rapidly progressive neurodegenerative dementias. 61
19204156 2009
50
Multiple SNPs within and surrounding the apolipoprotein E gene influence cerebrospinal fluid apolipoprotein E protein levels. 54
18430993 2008
Sources

Variations for Alzheimer Disease 2

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ClinVar genetic disease variations for Alzheimer Disease 2:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 APOE NM_000041.4(APOE):c.388T>C (p.Cys130Arg)SNV Likely pathogenic,risk factor 17864 rs429358 19:45411941-45411941 19:44908684-44908684

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

73
# 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 14)
# Super pathways Score Top Affiliating Genes
1
Parkinson disease 36
Show member pathways
 12.76 PSEN2 PSEN1 MAPT IDE APP APOE
2
Notch Signaling Pathway (WikiPathways) 1
Show member pathways
 12.19 PSEN2 PSEN1 MAPT
3
Neuroscience 4
12.19 PSEN2 PSEN1 MAPT APP APOE
4
Presenilin-Mediated Signaling 63
11.76 PSEN2 PSEN1 APP
5
Reelin Pathway (Cajal-Retzius cells) 63
11.64 MAPT APP APOE
6
Alzheimers Disease 1
11.61 PSEN2 PSEN1 MAPT IDE APP APOE
7
Copper homeostasis 1
11.27 MAPT APP
9
A-beta Uptake and Degradation 64
11.05 IDE APP APOE
10
Notch Signaling 63
10.97 PSEN2 PSEN1
11
Canonical and Non-canonical Notch signaling 1
10.91 PSEN2 PSEN1
12
A-beta Plaque Formation and APP Metabolism 64
10.82 PSEN2 PSEN1 IDE APP
13
Alzheimers Disease Pathway 63
10.67 PSEN2 PSEN1 MAPT APP APOE
14
Notch Pathway 70
10.1 PSEN2 PSEN1
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 19)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.01 SERPINA3 MAPT IDE BCHE APP APOE
2 extracellular space GO:0005615 9.98 SERPINA3 IDE BCHE APP APOE
3 cell GO:0005623 9.89 PSEN1 MAPT IDE APP APOE
4 cell surface GO:0009986 9.85 PSEN2 PSEN1 IDE APP
5 neuronal cell body GO:0043025 9.78 PSEN2 PSEN1 MAPT APOE
6 axon GO:0030424 9.76 PSEN2 PSEN1 MAPT APP
7 endoplasmic reticulum lumen GO:0005788 9.75 BCHE APP APOE
8 synaptic vesicle GO:0008021 9.7 PSEN2 PSEN1 APP
9 blood microparticle GO:0072562 9.69 SERPINA3 BCHE APOE
10 early endosome GO:0005769 9.62 PSEN2 PSEN1 APP APOE
11 synaptic membrane GO:0097060 9.57 PSEN2 PSEN1
12 smooth endoplasmic reticulum GO:0005790 9.56 PSEN1 APP
13 membrane raft GO:0045121 9.56 PSEN2 PSEN1 MAPT APP
14 neuromuscular junction GO:0031594 9.54 PSEN2 PSEN1 APP
15 nuclear envelope lumen GO:0005641 9.43 BCHE APP
16 main axon GO:0044304 9.4 MAPT APP
17 dendritic shaft GO:0043198 9.33 PSEN2 PSEN1 APP
18 growth cone GO:0030426 9.26 PSEN2 PSEN1 MAPT APP
19 ciliary rootlet GO:0035253 8.8 PSEN2 PSEN1 APP

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

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 regulation of gene expression GO:0010468 9.85 PSEN1 APP APOE
2 cellular protein metabolic process GO:0044267 9.82 PSEN1 APP APOE
3 neuron projection development GO:0031175 9.78 MAPT APP APOE
4 response to oxidative stress GO:0006979 9.77 PSEN1 APP APOE
5 negative regulation of gene expression GO:0010629 9.76 PSEN1 MAPT APP APOE
6 Notch signaling pathway GO:0007219 9.75 PSEN2 PSEN1 APP
7 positive regulation of catalytic activity GO:0043085 9.69 PSEN2 PSEN1 APOE
8 protein processing GO:0016485 9.68 PSEN2 PSEN1
9 regulation of synaptic plasticity GO:0048167 9.67 PSEN1 MAPT
10 cellular response to amyloid-beta GO:1904646 9.67 PSEN1 APP
11 neuron apoptotic process GO:0051402 9.66 PSEN1 APP
12 cellular response to nerve growth factor stimulus GO:1990090 9.66 MAPT APP
13 positive regulation of phosphorylation GO:0042327 9.65 PSEN1 APP
14 microglial cell activation GO:0001774 9.65 MAPT APP
15 positive regulation of glycolytic process GO:0045821 9.64 PSEN1 APP
16 regulation of protein binding GO:0043393 9.64 PSEN1 APP
17 positive regulation of dendritic spine development GO:0060999 9.63 PSEN1 APOE
18 membrane protein ectodomain proteolysis GO:0006509 9.63 PSEN2 PSEN1
19 positive regulation of tumor necrosis factor biosynthetic process GO:0042535 9.62 PSEN1 APP
20 response to lead ion GO:0010288 9.62 MAPT APP
21 membrane protein intracellular domain proteolysis GO:0031293 9.61 PSEN2 PSEN1
22 positive regulation of protein binding GO:0032092 9.61 PSEN1 IDE APP
23 negative regulation of long-term synaptic potentiation GO:1900272 9.6 APP APOE
24 amyloid fibril formation GO:1990000 9.58 MAPT APP
25 synapse organization GO:0050808 9.58 PSEN1 MAPT APP
26 amyloid precursor protein metabolic process GO:0042982 9.57 PSEN1 APOE
27 neuron projection maintenance GO:1990535 9.56 PSEN1 APP
28 amyloid precursor protein catabolic process GO:0042987 9.55 PSEN2 PSEN1
29 Notch receptor processing GO:0007220 9.54 PSEN2 PSEN1
30 modulation of age-related behavioral decline GO:0090647 9.52 PSEN1 APP
31 Notch receptor processing, ligand-dependent GO:0035333 9.49 PSEN2 PSEN1
32 negative regulation of low-density lipoprotein receptor activity GO:1905598 9.48 PSEN1 APP
33 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.37 PSEN1 APP
34 astrocyte activation GO:0048143 9.33 PSEN1 MAPT APP
35 astrocyte activation involved in immune response GO:0002265 9.32 PSEN1 APP
36 smooth endoplasmic reticulum calcium ion homeostasis GO:0051563 9.26 PSEN1 APP
37 amyloid-beta metabolic process GO:0050435 9.13 PSEN2 PSEN1 IDE
38 positive regulation of amyloid fibril formation GO:1905908 8.8 PSEN1 APP APOE

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.77 MAPT IDE BCHE APP APOE
2 endopeptidase activity GO:0004175 9.43 PSEN2 PSEN1 IDE
3 aspartic-type endopeptidase activity GO:0004190 9.4 PSEN2 PSEN1
4 growth factor receptor binding GO:0070851 9.32 PSEN1 APP
5 lipoprotein particle binding GO:0071813 9.16 MAPT APOE
6 aspartic endopeptidase activity, intramembrane cleaving GO:0042500 8.96 PSEN2 PSEN1
7 amyloid-beta binding GO:0001540 8.8 IDE BCHE APOE
Sources

Sources for Alzheimer Disease 2

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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