MCID: AGR006
MIFTS: 10

Age-Related Macular Degeneration 4 malady

Genetic diseases (common) category
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Summaries for Age-Related Macular Degeneration 4

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Sources:
47OMIM, 33MalaCards
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MalaCards: Age-Related Macular Degeneration 4, is also known as macular degeneration, age-related, 4 An important gene associated with Age-Related Macular Degeneration 4 is CFH (complement factor H).

Description from OMIM:47 610698

Aliases & Classifications for Age-Related Macular Degeneration 4

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Sources:
20GeneTests, 22GTR, 47OMIM, 62UMLS
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Classifications:

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


Aliases & Descriptions:

age-related macular degeneration 4 20 22
macular degeneration, age-related, 4 47 62


Related Diseases for Age-Related Macular Degeneration 4

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Symptoms for Age-Related Macular Degeneration 4

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Sources:
47OMIM
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Clinical features from OMIM:

610698

Drugs & Therapeutics for Age-Related Macular Degeneration 4

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Age-Related Macular Degeneration 4

Search NIH Clinical Center for Age-Related Macular Degeneration 4

Genetic Tests for Age-Related Macular Degeneration 4

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Age-Related Macular Degeneration 4:

id Genetic test Affiliating Genes
1 Age-Related Macular Degeneration 420 22 CFH

Anatomical Context for Age-Related Macular Degeneration 4

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Animal Models for Age-Related Macular Degeneration 4 or affiliated genes

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Publications for Age-Related Macular Degeneration 4

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Variations for Age-Related Macular Degeneration 4

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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 Age-Related Macular Degeneration 4:

64
id Symbol AA change Variation ID SNP ID
1CFHp.Arg1210CysVAR_025885

Clinvar genetic disease variations for Age-Related Macular Degeneration 4:

1
id Gene Name Type Significance SNP ID Assembly Location
1CFHNM_000186.3(CFH): c.1204C= (p.His402=)single nucleotide variantPathogenic, risk factorrs1061170GRCh37Chr 1, 196659237: 196659237
2CFHNM_000186.3(CFH): c.3628C> T (p.Arg1210Cys)single nucleotide variantPathogenic, risk factorrs121913059GRCh37Chr 1, 196716375: 196716375

Expression for genes affiliated with Age-Related Macular Degeneration 4

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Age-Related Macular Degeneration 4

Search GEO for disease gene expression data for Age-Related Macular Degeneration 4.

Pathways for genes affiliated with Age-Related Macular Degeneration 4

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Compounds for genes affiliated with Age-Related Macular Degeneration 4

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GO Terms for genes affiliated with Age-Related Macular Degeneration 4

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Products for genes affiliated with Age-Related Macular Degeneration 4

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Age-Related Macular Degeneration 4

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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