MCID: ALZ025
MIFTS: 11

Alzheimer Disease, Type 3, with Spastic Paraparesis and Unusual Plaques malady

Summaries for Alzheimer Disease, Type 3, with Spastic Paraparesis and Unusual...

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46OMIM, 32MalaCards
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MalaCards: Alzheimer Disease, Type 3, with Spastic Paraparesis and Unusual Plaques An important gene associated with Alzheimer Disease, Type 3, with Spastic Paraparesis and Unusual Plaques is PSEN1 (presenilin 1).

Description from OMIM:46 607822

Aliases & Classifications for Alzheimer Disease, Type 3, with Spastic Paraparesis and Unusual...

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46OMIM
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Aliases & Descriptions:

alzheimer disease, type 3, with spastic paraparesis and unusual plaques 46


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Clinical Features for Alzheimer Disease, Type 3, with Spastic Paraparesis and Unusual...

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Clinical features from OMIM:

607822

Drugs & Therapeutics for Alzheimer Disease, Type 3, with Spastic Paraparesis and Unusual...

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Alzheimer Disease, Type 3, with Spastic Paraparesis and Unusual...

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Anatomical Context for Alzheimer Disease, Type 3, with Spastic Paraparesis and Unusual...

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Animal Models for Alzheimer Disease, Type 3, with Spastic Paraparesis and Unusual... or affiliated genes

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Publications for Alzheimer Disease, Type 3, with Spastic Paraparesis and Unusual...

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Genetic Variations for Alzheimer Disease, Type 3, with Spastic Paraparesis and Unusual...

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Alzheimer Disease, Type 3, with Spastic Paraparesis and Unusual Plaques:

62 (show all 71)
id Symbol AA change Variation ID SNP ID
1PSEN1p.Ala79ValVAR_006413
2PSEN1p.Val82LeuVAR_006414
3PSEN1p.Val96PheVAR_006415
4PSEN1p.Tyr115CysVAR_006416
5PSEN1p.Tyr115HisVAR_006417
6PSEN1p.Glu120AspVAR_006418
7PSEN1p.Glu120LysVAR_006419
8PSEN1p.Met139IleVAR_006420
9PSEN1p.Met139ThrVAR_006421
10PSEN1p.Met139ValVAR_006422
11PSEN1p.Ile143PheVAR_006423
12PSEN1p.Ile143ThrVAR_006424
13PSEN1p.Met146IleVAR_006425
14PSEN1p.Met146LeuVAR_006426
15PSEN1p.Met146ValVAR_006427
16PSEN1p.His163ArgVAR_006428
17PSEN1p.His163TyrVAR_006429
18PSEN1p.Ser169LeuVAR_006430
19PSEN1p.Ser169ProVAR_006431
20PSEN1p.Leu171ProVAR_006432
21PSEN1p.Gly209ValVAR_006433
22PSEN1p.Ile213ThrVAR_006434
23PSEN1p.Ala231ThrVAR_006435
24PSEN1p.Ala231ValVAR_006436
25PSEN1p.Met233ThrVAR_006437
26PSEN1p.Ala246GluVAR_006439
27PSEN1p.Leu250SerVAR_006440
28PSEN1p.Ala260ValVAR_006441
29PSEN1p.Leu262PheVAR_006442
30PSEN1p.Cys263ArgVAR_006443
31PSEN1p.Pro264LeuVAR_006444
32PSEN1p.Pro267SerVAR_006445
33PSEN1p.Pro267ThrVAR_006446
34PSEN1p.Arg269GlyVAR_006447
35PSEN1p.Arg269HisVAR_006448
36PSEN1p.Arg278ThrVAR_006449
37PSEN1p.Glu280AlaVAR_006450
38PSEN1p.Glu280GlyVAR_006451
39PSEN1p.Ala285ValVAR_006452
40PSEN1p.Leu286ValVAR_006453
41PSEN1p.Gly378GluVAR_006455
42PSEN1p.Gly384AlaVAR_006456
43PSEN1p.Leu392ValVAR_006457
44PSEN1p.Cys410TyrVAR_006458rs661
45PSEN1p.Ala426ProVAR_006459
46PSEN1p.Pro436GlnVAR_006460rs28930977
47PSEN1p.Pro436SerVAR_008141
48PSEN1p.Phe105LeuVAR_009208
49PSEN1p.Pro117LeuVAR_009209
50PSEN1p.Gly209ArgVAR_009210
51PSEN1p.Met233LeuVAR_009211
52PSEN1p.Leu282ArgVAR_009212
53PSEN1p.Ala409ThrVAR_009213
54PSEN1p.Thr116AsnVAR_010120
55PSEN1p.Asn135AspVAR_010121
56PSEN1p.Met139LysVAR_010122
57PSEN1p.Thr147IleVAR_010123
58PSEN1p.Trp165CysVAR_010124
59PSEN1p.Leu173TrpVAR_010125
60PSEN1p.Leu219ProVAR_010126
61PSEN1p.Ser289CysVAR_010127
62PSEN1p.Ser390IleVAR_010128
63PSEN1p.Asn405SerVAR_010129
64PSEN1p.Cys92SerVAR_016214
65PSEN1p.Leu166ProVAR_016216
66PSEN1p.Leu174MetVAR_016217
67PSEN1p.Gly206AlaVAR_016218
68PSEN1p.Gly266SerVAR_016219
69PSEN1p.Leu271ValVAR_016220
70PSEN1p.Ala431GluVAR_025605
71PSEN1p.Leu262ValVAR_070025

Expression for genes affiliated with Alzheimer Disease, Type 3, with Spastic Paraparesis and Unusual...

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Alzheimer Disease, Type 3, with Spastic Paraparesis and Unusual Plaques

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Pathways for genes affiliated with Alzheimer Disease, Type 3, with Spastic Paraparesis and Unusual...

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Compounds for genes affiliated with Alzheimer Disease, Type 3, with Spastic Paraparesis and Unusual...

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GO Terms for genes affiliated with Alzheimer Disease, Type 3, with Spastic Paraparesis and Unusual...

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Products for genes affiliated with Alzheimer Disease, Type 3, with Spastic Paraparesis and Unusual...

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Alzheimer Disease, Type 3, with Spastic Paraparesis and Unusual...

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet