MCID: AGR006
MIFTS: 12

Age-Related Macular Degeneration 4 malady

Genetic diseases, Rare diseases, Eye diseases categories
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Summaries for Age-Related Macular Degeneration 4

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MalaCards based summary: Age-Related Macular Degeneration 4, is also known as macular degeneration, age-related, 4 and has symptoms including An important gene associated with Age-Related Macular Degeneration 4 is CFH (complement factor H).

Description from OMIM:46 610698

Aliases & Classifications for Age-Related Macular Degeneration 4

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Age-Related Macular Degeneration 4, Aliases & Descriptions:

Name: Age-Related Macular Degeneration 4 20 22
 
Macular Degeneration, Age-Related, 4 46


Classifications:

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


Related Diseases for Age-Related Macular Degeneration 4

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Symptoms for Age-Related Macular Degeneration 4

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Clinical features from OMIM:

610698

HPO human phenotypes related to Age-Related Macular Degeneration 4:

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

Drugs & Therapeutics for Age-Related Macular Degeneration 4

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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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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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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:

6
id Gene Name Type Significance SNP ID Assembly Location
1CFHNM_000186.3(CFH): c.1204C= (p.His402=)single nucleotide variantPathogenicrs1061170GRCh37Chr 1, 196659237: 196659237
2CFHNM_000186.3(CFH): c.184G> A (p.Val62Ile)single nucleotide variantrisk factorrs800292GRCh37Chr 1, 196642233: 196642233
3CFHNM_000186.3(CFH): c.1419G> C (p.Ala473=)single nucleotide variantrisk factorrs2274700GRCh37Chr 1, 196682947: 196682947
4CFHNM_000186.3(CFH): c.2237-543G=single nucleotide variantrisk factorrs1410996GRCh37Chr 1, 196696933: 196696933
5CFHNM_000186.3(CFH): c.3628C> T (p.Arg1210Cys)single nucleotide variantPathogenicrs121913059GRCh37Chr 1, 196716375: 196716375

Expression for genes affiliated with Age-Related Macular Degeneration 4

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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

Sources for Age-Related Macular Degeneration 4

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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