AD2
MCID: ALZ003
MIFTS: 67

Alzheimer Disease Type 2 (AD2) malady

Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases categories
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Summaries for Alzheimer Disease Type 2

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Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Alzheimer disease is a degenerative disease of the brain that causes gradual loss of memory, judgment, and ability to function socially. alzheimer disease currently affects about 5 million people. about 75 percent of alzheimer disease cases are classified as sporadic, which means they occur in people with no history of the disorder in their family. although the cause of these cases is unknown, genetic changes are likely to play a role. virtually all sporadic alzheimer disease begins after age 65, and the risk of developing this condition increases as a person gets older. the remaining cases of alzheimer disease are familial, which means they are found in multiple members of a family. familial alzheimer disease can be divided into early-onset disease (symptoms begin before age 65) and late-onset disease (symptoms begin after age 65). last updated: 7/2/2013

MalaCards: Alzheimer Disease Type 2, also known as late onset familial alzheimer disease, is related to dementia and lewy body dementia. An important gene associated with Alzheimer Disease Type 2 is NOS3 (nitric oxide synthase 3 (endothelial cell)), and among its related pathways are Validated transcriptional targets of AP1 family members Fra1 and Fra2 and A-beta Uptake and Degradation. The drugs galantamine and selegiline and the compounds thioflavine s and ab-42 have been mentioned in the context of this disorder. Affiliated tissues include brain and endothelial, and related mouse phenotypes are limbs/digits/tail and renal/urinary system.

Description from OMIM:47 104300, 104310, 602096, 605055, 605526 606187, 606889, 607116, 607822, 608907, 609636, 609790, 611073, 611152, 611154, 611155 more

Aliases & Classifications for Alzheimer Disease Type 2

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Sources:
65Wikipedia, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 62UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Mental diseases


Characteristics (Orphanet epidemiological data):

49
early-onset familial autosomal dominant alzheimer disease:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Adulthood; Age of death: Adult


Aliases & Descriptions:

alzheimer disease type 2 65 43 20 22 62
late onset familial alzheimer disease 43 20
late onset alzheimer disease 43 45
early-onset familial autosomal dominant alzheimer disease 49
early-onset autosomal dominant alzheimer disease 49
alzheimer disease associated with apoe e4 43
late-onset familial alzheimer disease 65
alzheimer disease, late-onset 47
alzheimer disease, late onset 62
late-onset alzheimer disease 65
alzheimer disease, familial 62
familial alzheimer disease 49
alzheimer disease-2 47
alzheimer's disease 62
alzheimer disease 2 62
senile dementia 65
lofad 43
eofad 49
ad2 43


Related Diseases for Alzheimer Disease Type 2

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Alzheimer's Disease family:

Alzheimer Disease Type 1 alzheimer disease type 2
Alzheimer Disease Type 3 Alzheimer Disease Type 4
Alzheimer Disease Type 5 Alzheimer Disease-13
Alzheimer Disease-14 Alzheimer Disease-15
Alzheimer Disease 17 Alzheimer Disease-10
Alzheimer Disease 12 Alzheimer Disease-11
Alzheimer Disease-7 Alzheimer Disease 6
Alzheimer Disease 18 Alzheimer Disease 9, Late Onset
Alzheimer Disease 19, Late Onset Alzheimer Disease 8
Alzheimer Disease 1, Familial Alzheimer Disease 16

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

(show top 50)    (show all 58)
idRelated DiseaseScoreTop Affiliating Genes
1dementia30.6APOE, APP, PSEN1, PSEN2
2lewy body dementia30.6APOE, APP
3parkinson's disease30.6PSEN1, APP, APOE
4alzheimer's disease30.4APOE, APBB2, APP, SORL1, PSEN1, PSEN2
5pick's disease30.4PSEN1, APP, APOE
6progressive supranuclear palsy30.2APP, APOE
7alzheimer disease type 130.1PSEN2, PSEN1, APP
8frontotemporal dementia29.9PSEN2, PSEN1, APP, APOE
9down syndrome29.9PSEN2, PSEN1, APP, APOE
10neuronitis10.3
11hyperlipidemia type 310.3
12communicating hydrocephalus10.3
13hydrocephalus10.3
14cerebral atrophy10.3
15microcephaly10.2
16cerebritis10.2
17alzheimer disease 9, late onset10.2
18alzheimer disease 19, late onset10.2
19capgras syndrome10.1
20arteriosclerosis10.1
21hematologic cancer10.1
22schizophrenia10.1
23cerebral arteriosclerosis10.1
24chorea10.1
25blindness10.1
26hereditary cerebral amyloid angiopathy10.1APP
27inclusion body myositis10.1APP
28stroke, hemorrhagic10.0APOE, APP
29binswanger's disease10.0APOE, APP
30brain ischemia10.0NOS3, APP
31metachromatic leukodystrophy10.0
32leukodystrophy10.0
33alzheimer disease type 310.0
34alzheimer disease type 410.0
35spastic paraparesis10.0
36spasticity10.0
37alzheimer disease 1, familial10.0
38creutzfeldt-jakob disease10.0APOE, APP
39hyperhomocysteinemia10.0NOS3, APOE
40amyotrophic lateral sclerosis10.0PSEN1, APP
41cerebrovascular disease10.0APOE, APP
42tauopathy10.0PSEN1, APP
43stroke, ischemic10.0NOS3, APOE
44brain disease10.0PSEN1, APP
45vascular disease10.0NOS3, PSEN1, APOE
46teratocarcinoma10.0APP, PSEN1, PLAU
47cerebral amyloid angiopathy10.0PSEN1, APP, APOE
48vascular dementia10.0APOE, APP, PSEN1
49memory impairment10.0PSEN1, APP, APOE
50myositis10.0PSEN1, APP

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



Diseases related to alzheimer disease type 2

Symptoms for Alzheimer Disease Type 2

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47OMIM
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Symptoms by clinical synopsis from OMIM:

104300

Clinical features from OMIM:

104300, 104310, 602096, 605055, 605526, 606187, 606889, 607116, 607822, 608907 609636, 609790, 611073, 611152, 611154, 611155 more

Drugs & Therapeutics for Alzheimer Disease Type 2

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Genetic Tests for Alzheimer Disease Type 2

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Alzheimer Disease Type 2:

id Genetic test Affiliating Genes
1 Late-Onset Familial Alzheimer Disease20
2 Alzheimer Disease Type 220 APOE
3 Alzheimer Disease, Type 222

Anatomical Context for Alzheimer Disease Type 2

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33MalaCards
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MalaCards organs/tissues related to Alzheimer Disease Type 2:

33
Brain, Endothelial

Animal Models for Alzheimer Disease Type 2 or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Alzheimer Disease Type 2:

37 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.6NOS3, PSEN2, PSEN1, APOE
2MP:00053678.6APOE, PSEN1, PSEN2, NOS3
3MP:00053888.4APOE, PSEN1, PSEN2, PLAU, NOS3
4MP:00053818.4NOS3, PLAU, PSEN2, PSEN1, APOE
5MP:00053918.4APOE, PSEN1, PSEN2, PLAU, NOS3
6MP:00053908.4APOE, PSEN1, PLAU, NOS3
7MP:00053798.4APOE, PSEN1, PSEN2, PLAU, NOS3
8MP:00107718.4PSEN2, PSEN1, APP, APOE
9MP:00053898.3APOE, APP, PSEN1, PLAU, NOS3
10MP:00028738.2NOS3, PSEN2, PSEN1, APP, APBB2
11MP:00053978.2APOE, PSEN1, PSEN2, PLAU, NOS3
12MP:00053958.0APOE, APP, SORL1, PSEN1, NOS3
13MP:00053867.9NOS3, PSEN2, PSEN1, APP, APOE
14MP:00053877.9APOE, APP, PSEN1, PSEN2, PLAU, NOS3
15MP:00053697.7APOE, APP, SORL1, PSEN1, PLAU, NOS3
16MP:00053857.6APOE, SORL1, PSEN1, PSEN2, PLAU, NOS3
17MP:00053847.5APOE, APBB2, APP, PSEN1, PSEN2, PLAU
18MP:00053787.5APOE, APBB2, APP, PSEN1, PSEN2, PLAU
19MP:00107687.5APOE, APBB2, APP, PSEN1, PSEN2, PLAU
20MP:00053767.1APOE, APP, SORL1, PSEN1, PSEN2, PLAU
21MP:00036316.7NOS3, APOE, APBB2, APP, SORL1, PSEN1

Publications for Alzheimer Disease Type 2

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Variations for Alzheimer Disease Type 2

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Alzheimer Disease Type 2:

64 (show all 13)
id Symbol AA change Variation ID SNP ID
1APPp.Ala692GlyVAR_000016
2APPp.Ala713ThrVAR_000019
3APPp.Ile716ValVAR_000020
4APPp.Val717IleVAR_000021
5APPp.Val717GlyVAR_000022
6APPp.Val717PheVAR_000023
7APPp.Val715MetVAR_010108
8APPp.Leu723ProVAR_010109
9APPp.Glu693GlyVAR_014215
10APPp.Thr714IleVAR_014218
11APPp.Val717LeuVAR_014219
12APPp.Thr714AlaVAR_032277
13APPp.Asp678AsnVAR_044424

Clinvar genetic disease variations for Alzheimer Disease Type 2:

1
id Gene Name Type Significance SNP ID Assembly Location
1APPNM_000484.3(APP): c.2149G> A (p.Val717Ile)single nucleotide variantPathogenicrs63750264GRCh37Chr 21, 27264096: 27264096
2APPNM_000484.3(APP): c.2075C> G (p.Ala692Gly)single nucleotide variantPathogenicrs63750671GRCh37Chr 21, 27264170: 27264170
3APPNM_000484.3(APP): c.2010_2011delGAinsTC (p.Lys670_Met671delinsAsnLeu)indelPathogenicrs281865161GRCh37Chr 21, 27269938: 27269939
4APPNM_000484.3(APP): c.2078A> G (p.Glu693Gly)single nucleotide variantPathogenicrs63751039GRCh37Chr 21, 27264167: 27264167
5APPNM_000484.3(APP): c.2018C> T (p.Ala673Val)single nucleotide variantPathogenicrs193922916GRCh37Chr 21, 27269931: 27269931
6HFENM_000410.3(HFE): c.845G> A (p.Cys282Tyr)single nucleotide variantBenign, Pathogenic, association, confers sensitivity, risk factorrs1800562GRCh37Chr 6, 26093141: 26093141
7MT-ND1m.3397A> Gsingle nucleotide variantPathogenicrs199476120GRCh37Chr MT, 3397: 3397

Expression for genes affiliated with Alzheimer Disease Type 2

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Alzheimer Disease Type 2

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

Pathways for genes affiliated with Alzheimer Disease Type 2

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Sources:
50PathCards, 38NCBI BioSystems Database, 54R&D Systems, 61Tocris Bioscience, 55Reactome, 53QIAGEN, 30KEGG, 60Thomson Reuters, 5Cell Signaling Technology
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Pathways related to Alzheimer Disease Type 2 according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8PLAU, NOS3
29.5APP, APOE
39.3PSEN1, PSEN2
4
Show member pathways
9.3APP, PSEN1
5
Show member pathways
9.2NOS3, PLAU, APP
68.8APP, PSEN1, PSEN2
7
Show member pathways
Delta-Notch Signaling Pathway38
Notch Signaling Pathway38
8.8PSEN2, PSEN1, APP
88.8PSEN2, PSEN1, APP
98.6NOS3, PSEN2, APP, APOE
10
Show member pathways
Development EGFR signaling via PIP360
Development PDGF signaling via MAPK cascades60
Apoptosis and survival Anti apoptotic action of membrane bound ESR160
Signaling of Hepatocyte Growth Factor Receptor38
Development EGFR signaling via small GTPases60
Development Neurotrophin family signaling60
Apoptosis and survival NGF signaling pathway60
Apoptosis and survival Role of CDK5 in neuronal death and survival60
8.6PSEN1, PSEN2, PLAU, NOS3
118.4PSEN2, PSEN1, APP, APOE
12
Show member pathways
Alzheimers Disease38
8.4APOE, APP, PSEN1, PSEN2
138.4PSEN2, PSEN1, APP, APOE

Compounds for genes affiliated with Alzheimer Disease Type 2

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Sources:
45Novoseek, 11DrugBank, 61Tocris Bioscience, 51PharmGKB, 24HMDB, 29IUPHAR, 3BitterDB
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Compounds related to Alzheimer Disease Type 2 according to GeneCards/GeneDecks:

(show top 50)    (show all 86)
idCompoundScoreTop Affiliating Genes
1thioflavine s459.9APP, APOE
2ab-42459.9APP, PSEN2
3metrifonate459.8APP, APOE
424s-hydroxy-cholesterol459.8APP, APOE
5thioflavin t459.8APP, APOE
6s-182459.8PSEN1, PSEN2
7tacrine45 1110.7APP, APOE
8jlk 6619.7PSEN2, PSEN1
9mrk 560619.7PSEN2, PSEN1
10begacestat619.7PSEN1, PSEN2
11l-685,458619.7PSEN1, PSEN2
12dapt619.7PSEN1, PSEN2
13donepezil45 51 24 1112.7APP, APOE
14aebsf459.7NOS3, PLAU, APP
15aminoguanidine45 29 1111.7NOS3, PLAU
16raloxifene45 51 29 1112.6NOS3, PLAU, PSEN2
17atorvastatin45 51 29 24 1113.6APOE, PLAU, NOS3
18gf 109203x45 6110.5NOS3, PLAU, APP
19chloroquine45 3 51 29 1113.5APOE, APP, PLAU
20bleomycin45 1110.4APOE, PSEN1, NOS3
21prostacyclin459.4APOE, PLAU, NOS3
22simvastatin45 51 61 29 24 1114.4APOE, APP, NOS3
23homocysteine45 2410.4NOS3, PSEN1, APOE
24carbachol45 29 1111.2APP, PSEN1, NOS3
254-hydroxynonenal45 2410.2PSEN1, APP, APOE
26sodium dodecylsulfate459.2APOE, APP, PLAU, NOS3
27curcumin459.2PLAU, PSEN2, APP
28aspirin45 51 29 2412.2APOE, APP, PLAU, NOS3
29galantamine45 51 1111.2APP, APOE
30biotin45 24 1111.2APOE, PSEN1, PSEN2
31nicotine45 29 51 1112.2PLAU, APP, APOE
32tamoxifen45 51 29 1112.2APOE, PSEN2, PLAU, NOS3
33glycerol45 24 1111.1PSEN1, PLAU, NOS3
34thapsigargin45 6110.0APP, PSEN1, PLAU, NOS3
35folate459.0NOS3, PSEN1, APP, APOE
36choline45 24 1110.9APP, PSEN1, PSEN2, NOS3
37glutamine458.8APOE, APP, PSEN1, PLAU
38lactacystin458.8PSEN2, PSEN1, APP, APOE
39cycloheximide458.8PLAU, PSEN2, PSEN1, APOE
40valine458.8PSEN2, PSEN1, APP, APOE
41actinomycin d458.7APOE, APP, PSEN2, PLAU, NOS3
42vegf458.7APOE, APP, PSEN2, PLAU, NOS3
43arginine458.6NOS3, PLAU, PSEN1, APP, APOE
44cholesterol45 29 24 1111.5APOE, APP, PSEN1, PSEN2
45alanine458.5PLAU, PSEN1, APP, APOE
46retinoic acid45 249.5APP, PSEN1, PSEN2, PLAU, NOS3
47aspartate458.4APOE, APP, PSEN1, PSEN2, PLAU
48h2o2458.1NOS3, PLAU, PSEN2, PSEN1, APP, APOE
49glutamate458.1APOE, APP, PSEN1, PSEN2, PLAU, NOS3
50serine458.0APOE, APP, PSEN1, PSEN2, PLAU, NOS3

GO Terms for genes affiliated with Alzheimer Disease Type 2

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16Gene Ontology
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Cellular components related to Alzheimer Disease Type 2 according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1low-density lipoprotein particleGO:0343629.3SORL1, APOE
2kinetochoreGO:0007769.2PSEN2, PSEN1
3ciliary rootletGO:0352539.1PSEN2, PSEN1, APP
4growth coneGO:0304269.1PSEN2, PSEN1, APBB2
5dendritic shaftGO:0431989.1PSEN2, PSEN1, APP
6neuromuscular junctionGO:0315949.0PSEN2, PSEN1, APP
7axonGO:0304248.9APP, PSEN1, PSEN2
8perinuclear region of cytoplasmGO:0484718.8PSEN2, PSEN1, APP
9Golgi membraneGO:0001398.7PSEN1, PSEN2, NOS3
10cell surfaceGO:0099868.6APP, PSEN1, PSEN2, PLAU
11neuronal cell bodyGO:0430258.3APOE, SORL1, PSEN1, PSEN2
12integral component of plasma membraneGO:0058878.0APP, SORL1, PSEN1, PSEN2
13Golgi apparatusGO:0057947.8APOE, APP, SORL1, PSEN1, PSEN2

Biological processes related to Alzheimer Disease Type 2 according to GeneCards/GeneDecks:

(show all 37)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of platelet activationGO:01054410.1APOE, NOS3
2nitric oxide mediated signal transductionGO:00726310.0NOS3, APOE
3negative regulation of extrinsic apoptotic signaling pathway via death domain receptorsGO:19020429.9PSEN2, NOS3
4regulation of epidermal growth factor-activated receptor activityGO:0071769.8PSEN2, APP
5positive regulation of coagulationGO:0508209.8PSEN2, PSEN1
6smooth endoplasmic reticulum calcium ion homeostasisGO:0515639.7PSEN1, APP
7myeloid leukocyte differentiationGO:0025739.7PSEN2, PSEN1
8endoplasmic reticulum calcium ion homeostasisGO:0324699.7PSEN2, PSEN1
9amyloid precursor protein catabolic processGO:0429879.7PSEN2, PSEN1
10beta-amyloid metabolic processGO:0504359.7PSEN1, PSEN2
11anagenGO:0426409.7PSEN2, PSEN1
12dorsal/ventral neural tube patterningGO:0219049.7PSEN2, PSEN1
13brain morphogenesisGO:0488549.7PSEN1, PSEN2
14hematopoietic progenitor cell differentiationGO:0022449.7PSEN1, PSEN2
15cell fate specificationGO:0017089.7PSEN1, PSEN2
16regulation of smooth muscle cell migrationGO:0149109.7SORL1, PLAU
17regulation of protein bindingGO:0433939.7PSEN1, APP
18T cell activation involved in immune responseGO:0022869.7PSEN1, PSEN2
19membrane protein ectodomain proteolysisGO:0065099.6PSEN2, PSEN1
20Notch receptor processingGO:0072209.6PSEN2, PSEN1
21protein processingGO:0164859.6PSEN2, PSEN1
22regulation of synaptic plasticityGO:0481679.6PSEN1, PSEN2
23neuron apoptotic processGO:0514029.6APP, PSEN1
24thymus developmentGO:0485389.5PSEN2, PSEN1
25somitogenesisGO:0017569.5PSEN2, PSEN1
26embryonic limb morphogenesisGO:0303269.5PSEN1, PSEN2
27memoryGO:0076139.4PSEN2, PSEN1
28forebrain developmentGO:0309009.4PSEN2, APP
29positive regulation of catalytic activityGO:0430859.4PSEN1, PSEN2
30calcium ion transportGO:0068169.3PSEN2, PSEN1
31Notch signaling pathwayGO:0072199.2APP, PSEN1, PSEN2
32positive regulation of apoptotic processGO:0430659.2PSEN2, PSEN1, APBB2
33extracellular matrix organizationGO:0301989.2PSEN1, APP, APBB2
34intracellular signal transductionGO:0355569.1APBB2, PSEN1, PSEN2
35receptor-mediated endocytosisGO:0068989.1SORL1, APOE
36cholesterol metabolic processGO:0082039.1APOE, APP, SORL1
37blood coagulationGO:0075968.9APP, PLAU, NOS3

Molecular functions related to Alzheimer Disease Type 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endopeptidase activityGO:0041759.3PSEN2, PSEN1
2beta-amyloid bindingGO:0015409.3APBB2, APOE
3aspartic-type endopeptidase activityGO:0041909.2PSEN2, PSEN1
4protein bindingGO:0055156.4NOS3, APOE, APBB2, APP, SORL1, PSEN1

Products for genes affiliated with Alzheimer Disease Type 2

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  • Antibodies
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Sources for Alzheimer Disease Type 2

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet