MCID: MCL032
MIFTS: 10

Macular Degeneration, Age-Related, 11 malady

Genetic diseases, Rare diseases, Eye diseases categories
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Summaries for Macular Degeneration, Age-Related, 11

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MalaCards based summary: Macular Degeneration, Age-Related, 11 and has symptoms including An important gene associated with Macular Degeneration, Age-Related, 11 is CST3 (cystatin C).

Description from OMIM:46 611953

Aliases & Classifications for Macular Degeneration, Age-Related, 11

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Macular Degeneration, Age-Related, 11, Aliases & Descriptions:

Name: Macular Degeneration, Age-Related, 11 46


Classifications:

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


Related Diseases for Macular Degeneration, Age-Related, 11

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Symptoms for Macular Degeneration, Age-Related, 11

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Clinical features from OMIM:

611953

HPO human phenotypes related to Macular Degeneration, Age-Related, 11:

id Description Frequency HPO Source Accession
1 age-related macular degeneration HP:0007868
2 polygenic inheritance HP:0010982

Drugs & Therapeutics for Macular Degeneration, Age-Related, 11

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Drug clinical trials:

Search ClinicalTrials for Macular Degeneration, Age-Related, 11

Search NIH Clinical Center for Macular Degeneration, Age-Related, 11

Genetic Tests for Macular Degeneration, Age-Related, 11

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Anatomical Context for Macular Degeneration, Age-Related, 11

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Animal Models for Macular Degeneration, Age-Related, 11 or affiliated genes

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Publications for Macular Degeneration, Age-Related, 11

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Variations for Macular Degeneration, Age-Related, 11

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Clinvar genetic disease variations for Macular Degeneration, Age-Related, 11:

6
id Gene Name Type Significance SNP ID Assembly Location
1CST3NM_000099.3(CST3): c.73G> A (p.Ala25Thr)single nucleotide variantPathogenicrs1064039GRCh37Chr 20, 23618427: 23618427

Expression for genes affiliated with Macular Degeneration, Age-Related, 11

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Expression patterns in normal tissues for genes affiliated with Macular Degeneration, Age-Related, 11

Search GEO for disease gene expression data for Macular Degeneration, Age-Related, 11.

Pathways for genes affiliated with Macular Degeneration, Age-Related, 11

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Compounds for genes affiliated with Macular Degeneration, Age-Related, 11

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GO Terms for genes affiliated with Macular Degeneration, Age-Related, 11

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Products for genes affiliated with Macular Degeneration, Age-Related, 11

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  • Antibodies
  • Proteins
  • Lysates

Sources for Macular Degeneration, Age-Related, 11

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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