Summaries for Retinal Drusen

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MalaCards based summary: Retinal Drusen, also known as basal laminar drusen, is related to basal laminar drusen and retinitis. An important gene associated with Retinal Drusen is ARMS2 (age-related maculopathy susceptibility 2), and among its related pathways are Pertussis and Creation of C4 and C2 activators. The compounds agarose and glucose have been mentioned in the context of this disorder. Affiliated tissues include kidney, and related mouse phenotype renal/urinary system.

Aliases & Classifications for Retinal Drusen

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Retinal Drusen, Aliases & Descriptions:

Name: Retinal Drusen 9 11 60
 
Basal Laminar Drusen 9 60


External Ids:

Disease Ontology9 DOID:2569
MeSH33 D015593
ICD9CM27 362.57

Related Diseases for Retinal Drusen

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Graphical network of diseases related to Retinal Drusen:



Diseases related to retinal drusen

Symptoms for Retinal Drusen

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Drugs & Therapeutics for Retinal Drusen

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Drug clinical trials:

Search ClinicalTrials for Retinal Drusen

Search NIH Clinical Center for Retinal Drusen

Genetic Tests for Retinal Drusen

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Anatomical Context for Retinal Drusen

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MalaCards organs/tissues related to Retinal Drusen:

31
Kidney

Animal Models for Retinal Drusen or affiliated genes

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MGI Mouse Phenotypes related to Retinal Drusen:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.5C3, CFB, CFH

Publications for Retinal Drusen

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Articles related to Retinal Drusen:

idTitleAuthorsYear
1
Chronic kidney disease, early age-related macular degeneration, and peripheral retinal drusen. (22053834)
2011
2
Peripheral retinal drusen and reticular pigment: association with CFHY402H and CFHrs1410996 genotypes in family and twin studies. (18936151)
2009
3
Retinal drusen: harbingers of age, safe havens for trouble. (19726434)
2009
4
IDOCS: intelligent distributed ontology consensus system--the use of machine learning in retinal drusen phenotyping. (17460291)
2007
5
New developments in retinal drusen. (9692044)
1998

Variations for Retinal Drusen

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Expression for genes affiliated with Retinal Drusen

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Search GEO for disease gene expression data for Retinal Drusen.

Pathways for genes affiliated with Retinal Drusen

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Pathways related to Retinal Drusen according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4C3, C2
2
Show member pathways
8.1C3, C2, CFB, CFH
3
Show member pathways
Complement Activation, Classical Pathway36
Complement and Coagulation Cascades36
8.1CFH, CFB, C2, C3
48.1CFH, CFB, C2, C3
5
Show member pathways
Immune response Alternative complement pathway58
Immune response Lectin Induced complement pathway58
Immune response Classic complement pathway58
8.1C3, C2, CFB, CFH

Compounds for genes affiliated with Retinal Drusen

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Sources:
43Novoseek
See all sources

Compounds related to Retinal Drusen according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1agarose439.0C3, CFB
2glucose438.5C3, CFB, CFH
3serine438.0C3, C2, CFB, CFH

GO Terms for genes affiliated with Retinal Drusen

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Cellular components related to Retinal Drusen according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00056158.6C3, C2, CFH
2blood microparticleGO:00725628.4C3, CFB, CFH
3extracellular regionGO:00055767.8CFH, CFB, C2, C3

Biological processes related to Retinal Drusen according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1complement activation, classical pathwayGO:00069589.4C3, C2
2complement activation, alternative pathwayGO:00069578.4CFH, CFB, C3
3regulation of complement activationGO:00304498.1C3, C2, CFB, CFH
4complement activationGO:00069568.1C3, C2, CFB, CFH
5innate immune responseGO:00450877.8C3, C2, CFB, CFH

Molecular functions related to Retinal Drusen according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:00042529.5C2, CFB

Products for genes affiliated with Retinal Drusen

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Retinal Drusen

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet