MCID: ALZ011
MIFTS: 10

Alzheimer Disease 1, Familial malady

Genetic diseases, Rare diseases, Mental diseases, Neuronal diseases categories

Summaries for Alzheimer Disease 1, Familial

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48OMIM, 34MalaCards
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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:48 104300

Aliases & Classifications for Alzheimer Disease 1, Familial

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48OMIM
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Classifications:

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


Aliases & Descriptions:

alzheimer disease 1, familial 48


Related Diseases for Alzheimer Disease 1, Familial

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Symptoms for Alzheimer Disease 1, Familial

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48OMIM
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Clinical features from OMIM:

104300

Drugs & Therapeutics for Alzheimer Disease 1, Familial

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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Variations for Alzheimer Disease 1, Familial

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Alzheimer Disease 1, Familial:

65 (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 1, Familial:

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
6MT-ND1m.3397A> Gsingle nucleotide variantPathogenicrs199476120GRCh37Chr MT, 3397: 3397

Expression for genes affiliated with Alzheimer Disease 1, Familial

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2BioGPS, 16Gene 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet