AD2
MCID: ALZ049
MIFTS: 48

Alzheimer Disease 2 (AD2)

Categories: Cardiovascular diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Alzheimer Disease 2

MalaCards integrated aliases for Alzheimer Disease 2:

Name: Alzheimer Disease 2 57 73 29 6 71
Ad2 57 12 20 73
Alzheimer Disease Associated with Apoe4 57 12 73
Late Onset Alzheimer Disease 20 54
Alzheimer's Disease 2 12 15
Alzheimer Disease-2 12 13
Alzheimer Disease Associated with Apoe E4 20
Late Onset Familial Alzheimer Disease 20
Late-Onset Familial Alzheimer Disease 20
Alzheimer Disease 2, Late-Onset 57
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 20
Lofad 20

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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:



External Ids:

Disease Ontology 12 DOID:0110035
OMIM® 57 104310
MeSH 44 D000544
ICD10 32 G30
MedGen 41 C1863051
UMLS 71 C0494463 C1863051

Summaries for Alzheimer Disease 2

GARD : 20 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. 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 alzheimer disease 9. An important gene associated with Alzheimer Disease 2 is APOE (Apolipoprotein E), and among its related pathways/superpathways are Pathways of neurodegeneration - multiple diseases and Notch Signaling Pathway (WikiPathways). The drugs BCG vaccine and Vitamin A have been mentioned in the context of this disorder. Affiliated tissues include brain, endothelial and cortex, 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

Related Diseases for Alzheimer Disease 2

Diseases in the Alzheimer Disease family:

Alzheimer Disease 2 Alzheimer Disease 16
Alzheimer Disease 5 Alzheimer Disease 15
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 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 135)
# Related Disease Score Top Affiliating Genes
1 posterior cortical atrophy 30.2 MAPT APOE
2 alzheimer disease 9 30.0 PSEN1 MAPT
3 mild cognitive impairment 29.7 MAPT APP APOE
4 early-onset, autosomal dominant alzheimer disease 29.7 PSEN2 PSEN1 MAPT APP APOE
5 stroke, ischemic 29.5 SERPINA3 PSEN1 MAPT APOE
6 alzheimer disease 3 29.5 PSEN2 PSEN1 APP APOE
7 creutzfeldt-jakob disease 29.3 SERPINA3 MAPT APP APOE
8 vascular dementia 29.2 SERPINA3 PSEN1 MAPT APP APOE
9 aphasia 29.0 PSEN2 PSEN1 MAPT APP APOE
10 dementia, lewy body 28.7 SERPINA3 PSEN2 PSEN1 MAPT APP APOE
11 parkinson disease, late-onset 28.7 SERPINA3 PSEN2 PSEN1 MAPT APP APOE
12 dementia 28.7 SERPINA3 PSEN2 PSEN1 MAPT IDE APP
13 cerebral amyloid angiopathy, cst3-related 28.1 SERPINA3 PSEN2 PSEN1 MAPT IDE APP
14 alzheimer disease 27.9 SERPINA3 PSEN2 PSEN1 MAPT IDE APP
15 alzheimer disease 19 11.3
16 alzheimer disease 6 10.4
17 alzheimer disease 8 10.3
18 alzheimer disease 5 10.2
19 residual stage of open angle glaucoma 10.2 APP APOE
20 senile plaque formation 10.2 APP APOE
21 heart cancer 10.2 SERPINA3 APOE
22 alzheimer's disease 1 10.2 APP APOE
23 cerebral atherosclerosis 10.2 SERPINA3 APOE
24 anosognosia 10.2 PSEN1 APOE
25 sleep disorder 10.2
26 subjective cognitive decline 10.1 MAPT APOE
27 amyloidosis, finnish type 10.1 SERPINA3 APOE
28 chronic wasting disease 10.1 SERPINA3 APP
29 alzheimer disease 10 10.1 MAPT APOE
30 hemorrhage, intracerebral 10.1 APP APOE
31 agraphia 10.1 MAPT APOE
32 cerebral amyloid angiopathy, itm2b-related, 2 10.1 SERPINA3 APP
33 age-related hearing loss 10.1 MAPT APOE
34 alzheimer disease 7 10.1 MAPT APOE
35 familial apolipoprotein c-ii deficiency 10.1 CETP APOE
36 hyperlipoproteinemia, type iv 10.1 CETP APOE
37 hyperlipoproteinemia, type i 10.1 CETP APOE
38 siderosis 10.1 SERPINA3 APOE
39 dyscalculia 10.1 MAPT APOE
40 chromosome 17q21.31 duplication syndrome 10.1 MAPT APP
41 brain injury 10.1 MAPT APOE
42 huntington disease-like 1 10.1 CETP APOE
43 hpa i recognition polymorphism, beta-globin-related 10.1
44 cerebral arterial disease 10.1 SERPINA3 APOE
45 progressive non-fluent aphasia 10.1 PSEN1 MAPT
46 hyperlipoproteinemia, type iii 10.0 CETP APOE
47 rem sleep behavior disorder 10.0 MAPT APOE
48 hypolipoproteinemia 10.0 CETP APOE
49 coronary heart disease 1 10.0 CETP APOE
50 kuru 10.0 MAPT APP

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



Diseases related to Alzheimer Disease 2

Symptoms & Phenotypes for Alzheimer Disease 2

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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Alzheimer Disease 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.43 APOE APP IDE MAPT PSEN1 PSEN2
2 integument MP:0010771 9.17 APOE APP IDE MAPT PSEN1 PSEN2

Drugs & Therapeutics for Alzheimer Disease 2

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

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
BCG vaccine Approved, Investigational Phase 2
2
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2 68-26-8, 11103-57-4 445354
3
Equol Investigational Phase 1, Phase 2 531-95-3 91469
4 Hormones Phase 1, Phase 2
5 Estrogens Phase 1, Phase 2
6 Hormone Antagonists Phase 1, Phase 2
7 Phytoestrogens Phase 1, Phase 2
8 retinol Phase 2
9 Retinol palmitate Phase 2
10 Vaccines Phase 2
11
Donepezil Approved 120014-06-4 3152
12
Galantamine Approved 357-70-0 9651
13
Rivastigmine Approved, Investigational 123441-03-2 77991
14
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
15
tannic acid Approved 1401-55-4
16 Mitogens
17 Insulin, Globin Zinc
18 insulin
19 Neurotransmitter Agents
20 Cholinergic Agents
21 Cholinesterase Inhibitors

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 S-Equol in Alzheimer's Disease 2 (SEAD2) Trial Recruiting NCT03101085 Phase 1, Phase 2 S-equol
2 BCG and Plasma Amyloid in Non-Demented Adults Recruiting NCT04449926 Phase 2
3 New Proteins in Body Fluids as Potential Biomarker for Alzheimer's Disease: a Pilot Study Unknown status NCT01773915
4 The Occurrence of the ApoE4 Allele in Agitated In-Patients With Late-Onset Alzheimer's Disease Compared to Age- and Gender-Matched, Non-Agitated In-Patients With Late-Onset Alzheimer's Disease Completed NCT01329536
5 Clinical Response to Donepezil in Mild and Moderate Dementia: Relationship to the Drug Plasma Concentration and the CYP2D6 and APOE Genetic Polymorphisms Completed NCT03349320
6 A Multicenter Study to Assess Differences Between Circulating Levels of IGF-I and IGFBP-3 in Patients With Sporadic Late-onset Alzheimer's Disease and Control Elderly Subjects. Completed NCT00647478
7 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
8 Novel Tailored Network-based rTMS Treatments in Alzheimer's Disease: an Integrated Multiimaging Approach Recruiting NCT04263194
9 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)
10 Cerebrospinal Fluid Markers of Synaptic Injury and Functional Connectivity in Alzheimer's Disease Active, not recruiting NCT03300726
11 Aerobic Exercise in Alzheimer's Disease: Cognition and Hippocampal Volume Effects Active, not recruiting NCT01954550
12 Dementia Risk and Dynamic Response to Exercise Enrolling by invitation NCT04009629
13 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

Genetic Tests for Alzheimer Disease 2

Genetic tests related to Alzheimer Disease 2:

# Genetic test Affiliating Genes
1 Alzheimer Disease 2 29 APOE

Anatomical Context for Alzheimer Disease 2

MalaCards organs/tissues related to Alzheimer Disease 2:

40
Brain, Endothelial, Cortex, Liver

Publications for Alzheimer Disease 2

Articles related to Alzheimer Disease 2:

(show top 50) (show all 94)
# Title Authors PMID Year
1
APOE4 leads to blood-brain barrier dysfunction predicting cognitive decline. 6 57
32376954 2020
2
Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. 6 57
8346443 1993
3
Reduced grid-cell-like representations in adults at genetic risk for Alzheimer's disease. 57
26494756 2015
4
Apolipoprotein E (APOE) genotype has dissociable effects on memory and attentional-executive network function in Alzheimer's disease. 57
20479234 2010
5
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. 57
19734902 2009
6
The effect of APOE genotype on clinical phenotype in Alzheimer disease. 57
17310043 2007
7
The effect of APOE genotype on clinical phenotype in Alzheimer disease. 57
16894123 2006
8
Genome scan on Swedish Alzheimer's disease families. 57
16288313 2006
9
Familial Alzheimer disease in Latinos: interaction between APOE, stroke, and estrogen replacement. 57
16401842 2006
10
APOE genotype and cognitive decline in a middle-aged cohort. 6
15668424 2005
11
Impact of APOE in mild cognitive impairment. 6
15557508 2004
12
Allelic expression of APOE in human brain: effects of epsilon status and promoter haplotypes. 57
15385439 2004
13
APOE-epsilon4 predicts dementia but not other psychiatric disorders after traumatic brain injury. 6
15326261 2004
14
Longitudinal changes in cognition and behavior in asymptomatic carriers of the APOE e4 allele. 6
15184602 2004
15
Accelerated evolution of brain atrophy and "black holes" in MS patients with APOE-epsilon 4. 6
15048896 2004
16
ApoE and clusterin cooperatively suppress Abeta levels and deposition: evidence that ApoE regulates extracellular Abeta metabolism in vivo. 6
14741101 2004
17
Functional brain abnormalities in young adults at genetic risk for late-onset Alzheimer's dementia. 57
14688411 2004
18
APOE genotype influences acquisition and recall following traumatic brain injury. 6
11940706 2002
19
Apolipoprotein E epsilon 4 and short-term recovery from predominantly mild brain injury. 6
11940689 2002
20
Accelerated hippocampal atrophy in Alzheimer's disease with apolipoprotein E epsilon4 allele. 6
11835377 2002
21
Familial Alzheimer disease among Caribbean Hispanics: a reexamination of its association with APOE. 57
11790235 2002
22
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. 57
11248079 2001
23
Apolipoprotein E-epsilon4 genotype predicts a poor outcome in survivors of traumatic brain injury. 6
9932938 1999
24
Association of apolipoprotein E polymorphism with outcome after head injury. 6
10213549 1997
25
Apolipoprotein E epsilon4 association with dementia in a population-based study: The Framingham study. 6
8618665 1996
26
Preclinical evidence of Alzheimer's disease in persons homozygous for the epsilon 4 allele for apolipoprotein E. 57
8592548 1996
27
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
28
Genetic association and linkage analysis of the apolipoprotein CII locus and familial Alzheimer's disease. 57
1349467 1992
29
Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage. 57
2035524 1991
30
Linkage analysis of familial Alzheimer disease, using chromosome 21 markers. 57
1998342 1991
31
Genetic linkage studies in Alzheimer's disease families. 57
3197787 1988
32
The affected-pedigree-member method of linkage analysis. 57
3422543 1988
33
Exclusion mapping. 57
3669048 1987
34
Isolation, characterization, and mapping to chromosome 19 of the human apolipoprotein E gene. 6
3922972 1985
35
Nucleotide sequence and structure of the human apolipoprotein E gene. 6
2987927 1985
36
Human E apoprotein heterogeneity. Cysteine-arginine interchanges in the amino acid sequence of the apo-E isoforms. 6
7263700 1981
37
Auditory Input and Postural Control in Adults: A Narrative Review. 61
32163114 2020
38
Progressive Tau Accumulation in Alzheimer Disease: 2-Year Follow-up Study. 61
30926651 2019
39
Fibrosis of the Choroid Plexus Filtration Membrane. 61
27444353 2016
40
A protective mutation against Alzheimer disease? 61
23060947 2012
41
Nanopore analysis: An emerging technique for studying the folding and misfolding of proteins. 61
22421211 2012
42
Proton pump inhibitor lansoprazole is a nuclear liver X receptor agonist. 54
20060385 2010
43
APOE mRNA and protein expression in postmortem brain are modulated by an extended haplotype structure. 54
19554612 2010
44
Concordant association of insulin degrading enzyme gene (IDE) variants with IDE mRNA, Abeta, and Alzheimer's disease. 54
20098734 2010
45
Most rapid cognitive decline in APOE epsilon4 negative Alzheimer's disease with early onset. 54
19335933 2009
46
Rapidly progressive neurodegenerative dementias. 61
19204156 2009
47
Multiple SNPs within and surrounding the apolipoprotein E gene influence cerebrospinal fluid apolipoprotein E protein levels. 54
18430993 2008
48
The role of novel chitin-like polysaccharides in Alzheimer disease. 61
18201954 2007
49
Structural basis for the recognition and cross-linking of amyloid fibrils by human apolipoprotein E. 54
17916554 2007
50
Follow-up mapping supports the evidence for linkage in the candidate region at 9q22 in the NIMH Alzheimer's disease Genetics Initiative cohort. 54
17034007 2007

Variations for Alzheimer Disease 2

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 Pathogenic 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

Expression for Alzheimer Disease 2

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

Pathways for Alzheimer Disease 2

GO Terms for Alzheimer Disease 2

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.93 SERPINA3 IDE CETP APP APOE
2 extracellular region GO:0005576 9.93 SERPINA3 MAPT IDE CETP APP APOE
3 cell surface GO:0009986 9.78 PSEN2 PSEN1 IDE APP
4 neuronal cell body GO:0043025 9.73 PSEN2 PSEN1 MAPT APOE
5 early endosome GO:0005769 9.7 PSEN1 APP APOE
6 membrane raft GO:0045121 9.56 PSEN2 PSEN1 MAPT APP
7 smooth endoplasmic reticulum GO:0005790 9.51 PSEN1 APP
8 neuromuscular junction GO:0031594 9.5 PSEN2 PSEN1 APP
9 high-density lipoprotein particle GO:0034364 9.49 CETP APOE
10 gamma-secretase complex GO:0070765 9.4 PSEN2 PSEN1
11 main axon GO:0044304 9.37 MAPT APP
12 dendritic shaft GO:0043198 9.33 PSEN2 PSEN1 APP
13 growth cone GO:0030426 9.26 PSEN2 PSEN1 MAPT APP
14 ciliary rootlet GO:0035253 8.8 PSEN2 PSEN1 APP

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

(show all 48)
# Name GO ID Score Top Affiliating Genes
1 regulation of gene expression GO:0010468 9.88 PSEN1 APP APOE
2 cellular protein metabolic process GO:0044267 9.84 PSEN1 APP APOE
3 neuron projection development GO:0031175 9.79 MAPT APP APOE
4 response to oxidative stress GO:0006979 9.78 PSEN1 APP APOE
5 negative regulation of gene expression GO:0010629 9.78 PSEN1 MAPT APP APOE
6 Notch signaling pathway GO:0007219 9.76 PSEN2 PSEN1 APP
7 cholesterol metabolic process GO:0008203 9.73 CETP APP APOE
8 regulation of synaptic plasticity GO:0048167 9.7 PSEN1 MAPT
9 lipid homeostasis GO:0055088 9.7 CETP APOE
10 cellular response to amyloid-beta GO:1904646 9.7 PSEN1 APP
11 intermembrane lipid transfer GO:0120009 9.69 CETP APOE
12 neuron apoptotic process GO:0051402 9.69 PSEN1 APP
13 cellular response to nerve growth factor stimulus GO:1990090 9.69 MAPT APP
14 gene expression GO:0010467 9.68 PSEN1 APOE
15 triglyceride metabolic process GO:0006641 9.68 CETP APOE
16 triglyceride homeostasis GO:0070328 9.68 CETP APOE
17 positive regulation of catalytic activity GO:0043085 9.68 PSEN2 PSEN1
18 positive regulation of phosphorylation GO:0042327 9.67 PSEN1 APP
19 microglial cell activation GO:0001774 9.67 MAPT APP
20 regulation of protein binding GO:0043393 9.66 PSEN1 APP
21 positive regulation of dendritic spine development GO:0060999 9.66 PSEN1 APOE
22 positive regulation of glycolytic process GO:0045821 9.65 PSEN1 APP
23 membrane protein ectodomain proteolysis GO:0006509 9.65 PSEN2 PSEN1
24 response to lead ion GO:0010288 9.65 MAPT APP
25 membrane protein intracellular domain proteolysis GO:0031293 9.64 PSEN2 PSEN1
26 reverse cholesterol transport GO:0043691 9.64 CETP APOE
27 high-density lipoprotein particle remodeling GO:0034375 9.63 CETP APOE
28 low-density lipoprotein particle remodeling GO:0034374 9.63 CETP APOE
29 positive regulation of protein binding GO:0032092 9.63 PSEN1 IDE APP
30 amyloid precursor protein catabolic process GO:0042987 9.62 PSEN2 PSEN1
31 negative regulation of long-term synaptic potentiation GO:1900272 9.61 APP APOE
32 learning or memory GO:0007611 9.61 PSEN1 MAPT APP
33 amyloid fibril formation GO:1990000 9.6 MAPT APP
34 amyloid precursor protein metabolic process GO:0042982 9.59 PSEN1 APOE
35 neuron projection maintenance GO:1990535 9.58 PSEN1 APP
36 synapse organization GO:0050808 9.58 PSEN1 MAPT APP
37 amyloid-beta formation GO:0034205 9.57 PSEN2 PSEN1
38 negative regulation of low-density lipoprotein receptor activity GO:1905598 9.55 PSEN1 APP
39 modulation of age-related behavioral decline GO:0090647 9.54 PSEN1 APP
40 very-low-density lipoprotein particle remodeling GO:0034372 9.52 CETP APOE
41 Notch receptor processing GO:0007220 9.51 PSEN2 PSEN1
42 Notch receptor processing, ligand-dependent GO:0035333 9.49 PSEN2 PSEN1
43 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.37 PSEN1 APP
44 astrocyte activation GO:0048143 9.33 PSEN1 MAPT APP
45 astrocyte activation involved in immune response GO:0002265 9.32 PSEN1 APP
46 smooth endoplasmic reticulum calcium ion homeostasis GO:0051563 9.26 PSEN1 APP
47 amyloid-beta metabolic process GO:0050435 9.13 PSEN2 PSEN1 IDE
48 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 aspartic-type endopeptidase activity GO:0004190 9.37 PSEN2 PSEN1
2 endopeptidase activity GO:0004175 9.33 PSEN2 PSEN1 IDE
3 intermembrane cholesterol transfer activity GO:0120020 9.32 CETP APOE
4 growth factor receptor binding GO:0070851 9.26 PSEN1 APP
5 lipoprotein particle binding GO:0071813 8.96 MAPT APOE
6 aspartic endopeptidase activity, intramembrane cleaving GO:0042500 8.62 PSEN2 PSEN1

Sources for Alzheimer Disease 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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