MCID: ALZ011
MIFTS: 10

Alzheimer Disease 1, Familial malady

Genetic diseases category

Summaries for Alzheimer Disease 1, Familial

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Sources:
46OMIM, 32MalaCards
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MalaCards: Alzheimer Disease 1, Familial An important gene associated with Alzheimer Disease 1, Familial is APP (amyloid beta (A4) precursor protein).

Description from OMIM:46 104300

Aliases & Classifications for Alzheimer Disease 1, Familial

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46OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases


Aliases & Descriptions:

alzheimer disease 1, familial 46


Related Diseases for Alzheimer Disease 1, Familial

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Clinical Features for Alzheimer Disease 1, Familial

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Sources:
46OMIM
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Clinical features from OMIM:

104300

Drugs & Therapeutics for Alzheimer Disease 1, Familial

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Sources:
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 1, Familial

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Anatomical Context for Alzheimer Disease 1, Familial

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Animal Models for Alzheimer Disease 1, Familial or affiliated genes

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Publications for Alzheimer Disease 1, Familial

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Genetic Variations for Alzheimer Disease 1, Familial

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Alzheimer Disease 1, Familial:

62 (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

Expression for genes affiliated with Alzheimer Disease 1, Familial

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Alzheimer Disease 1, Familial

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Pathways for genes affiliated with Alzheimer Disease 1, Familial

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Compounds for genes affiliated with Alzheimer Disease 1, Familial

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GO Terms for genes affiliated with Alzheimer Disease 1, Familial

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Products for genes affiliated with Alzheimer Disease 1, Familial

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Alzheimer Disease 1, Familial

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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