AD2
MCID: ALZ003
MIFTS: 68

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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NIH Rare Diseases:42 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 based summary: Alzheimer Disease Type 2, also known as late onset familial alzheimer disease, is related to lewy body dementia and progressive supranuclear palsy, and has symptoms including 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 Notch Pathway. The drugs galantamine and selegiline and the compounds s-182 and dapt have been mentioned in the context of this disorder. Affiliated tissues include brain and endothelial, and related mouse phenotypes are limbs/digits/tail and respiratory system.

Descriptions from OMIM:46 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:
62UMLS, 48Orphanet, 65Wikipedia, 42NIH Rare Diseases, 20GeneTests, 22GTR, 44Novoseek, 46OMIM, 26ICD10 via Orphanet
See all sources

Alzheimer Disease Type 2, Aliases & Descriptions:

Name: Alzheimer Disease Type 2 65 42 20 22 62
Late Onset Familial Alzheimer Disease 42 20 62
Late Onset Alzheimer Disease 42 44
Early-Onset Familial Autosomal Dominant Alzheimer Disease 48
Early-Onset Autosomal Dominant Alzheimer Disease 48
Alzheimer Disease Associated with Apoe E4 42
Late-Onset Familial Alzheimer Disease 65
Alzheimer Disease, Late-Onset 46
Alzheimer Disease, Late Onset 62
Familial Alzheimer's Disease 62
 
Late-Onset Alzheimer Disease 65
Familial Alzheimer Disease 48
Alzheimer Disease-2 46
Alzheimer's Disease 62
Alzheimer Disease 2 62
Senile Dementia 65
Lofad 42
Eofad 48
Ad2 42


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
early-onset familial autosomal dominant alzheimer disease:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000; Age of onset: Adulthood; Age of death: Adult


Related Diseases for Alzheimer Disease Type 2

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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 61)
idRelated DiseaseScoreTop Affiliating Genes
1lewy body dementia30.7APOE, APP
2progressive supranuclear palsy30.2APP, APOE
3alzheimer disease type 130.2PSEN2, PSEN1, APP
4pick's disease30.1PSEN1, APP, APOE
5parkinson's disease30.1MT-ND1, PSEN1, APP, APOE
6dementia29.7APOE, APP, PSEN1, PSEN2
7frontotemporal dementia29.5PSEN2, PSEN1, APP, APOE
8down syndrome29.5APOE, APP, PSEN1, PSEN2
9alzheimer's disease29.2APOE, APBB2, APP, SORL1, PSEN1, PSEN2
10neuronitis10.3
11hyperlipidemia type 310.3
12hydrocephalus10.3
13communicating hydrocephalus10.3
14cerebral atrophy10.3
15cerebral amyloid angiopathy10.3APP
16inclusion body myositis10.2APP
17microcephaly10.2
18cerebritis10.2
19artery disease10.2
20alzheimer disease 9, late onset10.2
21alzheimer disease 19, late onset10.2
22posterior cortical atrophy10.2
23hyperhomocysteinemia10.2APOE, NOS3
24hematologic cancer10.1
25schizophrenia10.1
26capgras syndrome10.1
27arteriosclerosis10.1
28cerebral arteriosclerosis10.1
29chorea10.1
30blindness10.1
31stroke, hemorrhagic10.1APOE, APP
32binswanger's disease10.1APOE, APP
33metachromatic leukodystrophy10.0
34leukodystrophy10.0
35alzheimer disease type 310.0
36alzheimer disease type 410.0
37spastic paraparesis10.0
38spasticity10.0
39alzheimer disease 1, familial10.0
40type 2 diabetes mellitus10.0APOE, MT-ND1, NOS3
41brain ischemia10.0APP, NOS3
42creutzfeldt-jakob disease10.0APOE, APP
43stroke, ischemic10.0NOS3, APOE
44vascular disease10.0NOS3, PSEN1, APOE
45cerebrovascular disease10.0APP, APOE
46amyotrophic lateral sclerosis type 1410.0PSEN1, APP
47diabetes mellitus9.9NOS3, MT-ND1, APOE
48tauopathy9.9PSEN1, APP
49atherosclerosis9.9APOE, SORL1, PLAU, NOS3
50teratocarcinoma9.8APP, PSEN1, PLAU

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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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

HPO human phenotypes related to Alzheimer Disease Type 2:

(show all 14)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 dementia HP:0000726
3 parkinsonism HP:0001300
4 heterogeneous HP:0001425
5 neurofibrillary tangles HP:0002185
6 long-tract signs HP:0002423
7 alzheimer disease HP:0002511
8 dementia HP:0000726
9 parkinsonism HP:0001300
10 neurofibrillary tangles HP:0002185
11 neurofibrillary tangles HP:0002185
12 long-tract signs HP:0002423
13 alzheimer disease HP:0002511
14 late onset HP:0003584

Drugs & Therapeutics for Alzheimer Disease Type 2

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Genetic Tests for Alzheimer Disease Type 2

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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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MalaCards organs/tissues related to Alzheimer Disease Type 2:

32
Brain, Endothelial

Animal Models for Alzheimer Disease Type 2 or affiliated genes

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Publications for Alzheimer Disease Type 2

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Variations for Alzheimer Disease Type 2

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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:

6 (show all 48)
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
6PSEN1NM_000021.3(PSEN1): c.436A> C (p.Met146Leu)single nucleotide variantPathogenicrs63750306GRCh37Chr 14, 73640371: 73640371
7PSEN1NM_000021.3(PSEN1): c.488A> G (p.His163Arg)single nucleotide variantPathogenicrs63750590GRCh37Chr 14, 73653568: 73653568
8PSEN1NM_000021.3(PSEN1): c.737C> A (p.Ala246Glu)single nucleotide variantPathogenicrs63750526GRCh37Chr 14, 73659540: 73659540
9PSEN1NM_000021.3(PSEN1): c.856C> G (p.Leu286Val)single nucleotide variantPathogenicrs63751235GRCh37Chr 14, 73664825: 73664825
10PSEN1NM_000021.3(PSEN1): c.1229G> A (p.Cys410Tyr)single nucleotide variantPathogenicrs661GRCh37Chr 14, 73683933: 73683933
11PSEN1NM_000021.3(PSEN1): c.415A> G (p.Met139Val)single nucleotide variantPathogenicrs63751037GRCh37Chr 14, 73640350: 73640350
12PSEN1NM_000021.3(PSEN1): c.436A> G (p.Met146Val)single nucleotide variantPathogenicrs63750306GRCh37Chr 14, 73640371: 73640371
13PSEN1NM_000021.3(PSEN1): c.487C> T (p.His163Tyr)single nucleotide variantPathogenicrs63749885GRCh37Chr 14, 73653567: 73653567
14PSEN1NM_000021.3(PSEN1): c.839A> C (p.Glu280Ala)single nucleotide variantPathogenicrs63750231GRCh37Chr 14, 73664808: 73664808
15PSEN1NM_000021.3(PSEN1): c.839A> G (p.Glu280Gly)single nucleotide variantPathogenicrs63750231GRCh37Chr 14, 73664808: 73664808
16PSEN1NM_000021.3(PSEN1): c.799C> T (p.Pro267Ser)single nucleotide variantPathogenicrs63751229GRCh37Chr 14, 73664768: 73664768
17PSEN1PSEN1, IVS8AS, G-T, -1, EX9DELdeletionPathogenic
18PSEN1NM_000021.3(PSEN1): c.360A> T (p.Glu120Asp)single nucleotide variantPathogenicrs63751272GRCh37Chr 14, 73640295: 73640295
19PSEN1NM_000021.3(PSEN1): c.1276G> C (p.Ala426Pro)single nucleotide variantPathogenicrs63751223GRCh37Chr 14, 73685869: 73685869
20PSEN1NM_000021.3(PSEN1): c.438G> A (p.Met146Ile)single nucleotide variantPathogenicrs63750391GRCh37Chr 14, 73640373: 73640373
21PSEN1NM_000021.3(PSEN1): c.749T> C (p.Leu250Ser)single nucleotide variantPathogenicrs63751163GRCh37Chr 14, 73659552: 73659552
22PSEN1PSEN1, IVS4DS, 1-BP DEL, GdeletionPathogenic
23PSEN1NM_000021.3(PSEN1): c.1300_1301delGCinsTG (p.Ala434Cys)indelPathogenicrs281875357GRCh37Chr 14, 73685893: 73685894
24PSEN1NM_000021.3(PSEN1): c.275G> C (p.Cys92Ser)single nucleotide variantPathogenicrs63751141GRCh37Chr 14, 73637692: 73637692
25PSEN1NM_000021.3(PSEN1): c.617G> C (p.Gly206Ala)single nucleotide variantPathogenicrs63750082GRCh37Chr 14, 73659420: 73659420
26PSEN1NM_000021.3(PSEN1): c.497T> C (p.Leu166Pro)single nucleotide variantPathogenicrs63750265GRCh37Chr 14, 73653577: 73653577
27PSEN1NM_000021.3(PSEN1): c.520C> A (p.Leu174Met)single nucleotide variantPathogenicrs63751144GRCh37Chr 14, 73653600: 73653600
28PSEN1NM_000021.3(PSEN1): c.1307C> A (p.Pro436Gln)single nucleotide variantPathogenicrs121917808GRCh37Chr 14, 73685900: 73685900
29PSEN1NM_000021.3(PSEN1): c.833G> T (p.Arg278Ile)single nucleotide variantPathogenicrs63749891GRCh37Chr 14, 73664802: 73664802
30PSEN1NM_000021.3(PSEN1): c.1292C> A (p.Ala431Glu)single nucleotide variantPathogenicrs63750083GRCh37Chr 14, 73685885: 73685885
31PSEN1NM_000021.3(PSEN1): c.236C> T (p.Ala79Val)single nucleotide variantPathogenicrs63749824GRCh37Chr 14, 73637653: 73637653
32PSEN1NM_000021.3(PSEN1): c.509C> T (p.Ser170Phe)single nucleotide variantPathogenicrs63750577GRCh37Chr 14, 73653589: 73653589
33PSEN1NM_000021.3(PSEN1): c.1175T> C (p.Leu392Pro)single nucleotide variantPathogenicrs63750218GRCh37Chr 14, 73683879: 73683879
34PSEN1NM_000021.3(PSEN1): c.265G> T (p.Val89Leu)single nucleotide variantPathogenicrs63750815GRCh37Chr 14, 73637682: 73637682
35PSEN1NM_000021.3(PSEN1): c.697A> G (p.Met233Val)single nucleotide variantPathogenicrs63751287GRCh37Chr 14, 73659500: 73659500
36PSEN1NM_000021.3(PSEN1): c.767A> C (p.Tyr256Ser)single nucleotide variantPathogenicrs63751320GRCh37Chr 14, 73659570: 73659570
37PSEN1NC_000014.9: g.73204762_73209317del4556deletionPathogenicGRCh37Chr 14, 73671470: 73676025
38PSEN1NM_000021.3(PSEN1): c.806G> A (p.Arg269His)single nucleotide variantPathogenicrs63750900GRCh37Chr 14, 73664775: 73664775
39PSEN2NM_000447.2(PSEN2): c.422A> T (p.Asn141Ile)single nucleotide variantPathogenicrs63750215GRCh37Chr 1, 227073304: 227073304
40PSEN2NM_000447.2(PSEN2): c.715A> G (p.Met239Val)single nucleotide variantPathogenicrs28936379GRCh37Chr 1, 227076678: 227076678
41PSEN2NM_000447.2(PSEN2): c.1316A> C (p.Asp439Ala)single nucleotide variantPathogenicrs63750110GRCh37Chr 1, 227083249: 227083249
42PSEN2NM_000447.2(PSEN2): c.1289C> T (p.Thr430Met)single nucleotide variantPathogenicrs63750666GRCh37Chr 1, 227083222: 227083222
43PSEN2NM_000447.2(PSEN2): c.364A> C (p.Thr122Pro)single nucleotide variantPathogenicrs63749851GRCh37Chr 1, 227073246: 227073246
44PSEN2NM_000447.2(PSEN2): c.717G> A (p.Met239Ile)single nucleotide variantPathogenicrs63749884GRCh37Chr 1, 227076680: 227076680
45PSEN2NM_000447.2(PSEN2): c.365C> G (p.Thr122Arg)single nucleotide variantPathogenicrs28936380GRCh37Chr 1, 227073247: 227073247
46PSEN2NM_000447.2(PSEN2): c.254C> T (p.Ala85Val)single nucleotide variantPathogenicrs63750048GRCh37Chr 1, 227071518: 227071518
47HFENM_000410.3(HFE): c.845G> A (p.Cys282Tyr)single nucleotide variantPathogenic, confers sensitivity, risk factorrs1800562GRCh37Chr 6, 26093141: 26093141
48MT-ND1m.3397A> Gsingle nucleotide variantPathogenicrs199476120GRCh37Chr MT, 3397: 3397

Expression for genes affiliated with Alzheimer Disease Type 2

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Expression patterns in normal tissues for genes affiliated with Alzheimer Disease Type 2

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Pathways for genes affiliated with Alzheimer Disease Type 2

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Pathways related to Alzheimer Disease Type 2 according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8NOS3, PLAU
29.3PSEN2, PSEN1
39.2APOE, APP
4
Show member pathways
9.0PSEN1, APP
5
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 Receptor37
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
8.7NOS3, PLAU, PSEN2, PSEN1
68.5PSEN2, PSEN1, APP
78.5PSEN2, PSEN1, APP
8
Show member pathways
Delta-Notch Signaling Pathway37
Notch Signaling Pathway37
8.5APP, PSEN1, PSEN2
98.4NOS3, PSEN2, APP, APOE
108.1APOE, APP, PSEN1, PSEN2
118.1PSEN2, PSEN1, APP, APOE
12
Show member pathways
Alzheimers Disease37
8.1APOE, APP, PSEN1, PSEN2

Compounds for genes affiliated with Alzheimer Disease Type 2

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Compounds related to Alzheimer Disease Type 2 according to GeneCards/GeneDecks:

(show top 50)    (show all 86)
idCompoundScoreTop Affiliating Genes
1s-182449.8PSEN1, PSEN2
2dapt619.7PSEN1, PSEN2
3l-685,458619.7PSEN2, PSEN1
4mrk 560619.7PSEN1, PSEN2
5begacestat619.7PSEN1, PSEN2
6jlk 6619.7PSEN2, PSEN1
7atorvastatin44 50 28 24 1113.7APOE, PLAU, NOS3
8raloxifene44 50 28 1112.7NOS3, PLAU, PSEN2
9thioflavine s449.6APP, APOE
10metrifonate449.6APP, APOE
1124s-hydroxy-cholesterol449.6APP, APOE
12ab-42449.5APP, PSEN2
13thioflavin t449.5APP, APOE
14bleomycin44 1110.5NOS3, APOE, PSEN1
15tacrine44 1110.5APP, APOE
16prostacyclin449.5PLAU, NOS3, APOE
17homocysteine44 2410.4PSEN1, NOS3, APOE
18aebsf449.4APP, PLAU, NOS3
19donepezil44 50 24 1112.4APP, APOE
20gf 109203x44 6110.3PLAU, NOS3, APP
21tamoxifen44 50 28 1112.3NOS3, APOE, PSEN2, PLAU
22galantamine44 50 1111.2APOE, APP
23chloroquine44 2 50 28 1113.2PLAU, APOE, APP
24biotin44 24 1111.2APOE, PSEN1, PSEN2
25simvastatin44 50 61 28 24 1114.1NOS3, APOE, APP
26FAD249.0MT-ND1, NOS3, APP
27sodium dodecylsulfate449.0NOS3, PLAU, APP, APOE
28aspirin44 50 28 2412.0APP, NOS3, APOE, PLAU
294-hydroxynonenal44 2410.0PSEN1, APP, APOE
30carbachol44 28 1110.9PSEN1, NOS3, APP
31curcumin448.9PLAU, PSEN2, APP
32nicotine44 28 50 1111.9APP, PLAU, APOE
33glycerol44 24 1110.9NOS3, PLAU, PSEN1
34cycloheximide448.8APOE, PLAU, PSEN2, PSEN1
35thapsigargin44 619.8APP, PLAU, NOS3, PSEN1
36folate448.7APOE, PSEN1, NOS3, APP
37choline44 24 1110.6PSEN1, APP, NOS3, PSEN2
38glutamine448.6APP, PLAU, PSEN1, APOE
39lactacystin448.5PSEN1, APP, APOE, PSEN2
40actinomycin d448.5NOS3, APOE, PLAU, APP, PSEN2
41vegf448.4NOS3, APP, APOE, PSEN2, PLAU
42arginine448.3PSEN1, APP, APOE, NOS3, PLAU
43retinoic acid44 249.2APP, PLAU, NOS3, PSEN1, PSEN2
44alanine448.2APOE, PLAU, MT-ND1, PSEN1, APP
45aspartate448.2APP, PSEN2, APOE, PSEN1, PLAU
46valine448.1APP, MT-ND1, PSEN2, PSEN1, APOE
47cholesterol44 28 24 1111.0APOE, APP, PSEN1, PSEN2
48h2o2447.9NOS3, PLAU, PSEN2, PSEN1, APP, APOE
49glutamate447.9APOE, APP, PSEN2, PLAU, NOS3, PSEN1
50serine447.4APOE, APP, PSEN1, PSEN2, MT-ND1, PLAU

GO Terms for genes affiliated with Alzheimer Disease Type 2

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1low-density lipoprotein particleGO:0343629.6SORL1, APOE
2growth coneGO:0304269.1PSEN2, PSEN1, APBB2
3kinetochoreGO:0007769.0PSEN1, PSEN2
4Golgi membraneGO:0001399.0NOS3, PSEN2, PSEN1
5ciliary rootletGO:0352538.8PSEN2, PSEN1, APP
6dendritic shaftGO:0431988.8APP, PSEN1, PSEN2
7neuromuscular junctionGO:0315948.7PSEN2, PSEN1, APP
8neuronal cell bodyGO:0430258.6APOE, SORL1, PSEN1, PSEN2
9axonGO:0304248.5APP, PSEN1, PSEN2
10cell surfaceGO:0099868.3APP, PSEN1, PSEN2, PLAU
11integral component of plasma membraneGO:0058877.9PSEN2, PSEN1, SORL1, APP
12Golgi apparatusGO:0057947.8PSEN2, PSEN1, SORL1, APP, APOE

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:00726310.1NOS3, APOE
3regulation of smooth muscle cell migrationGO:01491010.0PLAU, SORL1
4negative regulation of extrinsic apoptotic signaling pathway via death domain receptorsGO:190204210.0PSEN2, NOS3
5positive regulation of coagulationGO:0508209.8PSEN2, PSEN1
6myeloid leukocyte differentiationGO:0025739.7PSEN1, PSEN2
7endoplasmic reticulum calcium ion homeostasisGO:0324699.7PSEN2, PSEN1
8amyloid precursor protein catabolic processGO:0429879.7PSEN2, PSEN1
9beta-amyloid metabolic processGO:0504359.7PSEN1, PSEN2
10anagenGO:0426409.7PSEN1, PSEN2
11dorsal/ventral neural tube patterningGO:0219049.7PSEN2, PSEN1
12brain morphogenesisGO:0488549.7PSEN1, PSEN2
13hematopoietic progenitor cell differentiationGO:0022449.7PSEN1, PSEN2
14cell fate specificationGO:0017089.7PSEN1, PSEN2
15T cell activation involved in immune responseGO:0022869.7PSEN1, PSEN2
16membrane protein ectodomain proteolysisGO:0065099.6PSEN2, PSEN1
17Notch receptor processingGO:0072209.6PSEN1, PSEN2
18protein processingGO:0164859.6PSEN2, PSEN1
19regulation of synaptic plasticityGO:0481679.6PSEN2, PSEN1
20thymus developmentGO:0485389.6PSEN2, PSEN1
21regulation of epidermal growth factor-activated receptor activityGO:0071769.5APP, PSEN2
22somitogenesisGO:0017569.5PSEN1, PSEN2
23embryonic limb morphogenesisGO:0303269.5PSEN2, PSEN1
24smooth endoplasmic reticulum calcium ion homeostasisGO:0515639.4PSEN1, APP
25memoryGO:0076139.4PSEN2, PSEN1
26receptor-mediated endocytosisGO:0068989.4SORL1, APOE
27positive regulation of catalytic activityGO:0430859.4PSEN1, PSEN2
28regulation of protein bindingGO:0433939.4PSEN1, APP
29calcium ion transportGO:0068169.3PSEN2, PSEN1
30neuron apoptotic processGO:0514029.3APP, PSEN1
31positive regulation of apoptotic processGO:0430659.2PSEN2, PSEN1, APBB2
32intracellular signal transductionGO:0355569.1PSEN2, PSEN1, APBB2
33forebrain developmentGO:0309009.1PSEN2, APP
34cholesterol metabolic processGO:0082039.1SORL1, APP, APOE
35extracellular matrix organizationGO:0301988.9APBB2, APP, PSEN1
36Notch signaling pathwayGO:0072198.9PSEN2, PSEN1, APP
37blood coagulationGO:0075968.7APP, PLAU, NOS3

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

idNameGO IDScoreTop Affiliating Genes
1beta-amyloid bindingGO:0015409.4APBB2, APOE
2endopeptidase activityGO:0041759.3PSEN2, PSEN1
3aspartic-type endopeptidase activityGO:0041909.2PSEN2, PSEN1
4protein bindingGO:0055156.5NOS3, APOE, APBB2, APP, SORL1, PSEN1

Products for genes affiliated with Alzheimer Disease Type 2

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  • Antibodies
  • Proteins
  • Lysates

Sources for Alzheimer Disease Type 2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet