MCID: ISL011

Isolated Aniridia malady

Genetic diseases (common) category
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Summaries for Isolated Aniridia

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33MalaCards
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MalaCards: Isolated Aniridia is related to aniridia. An important gene associated with Isolated Aniridia is PAX6 (paired box 6).

Aliases & Classifications for Isolated Aniridia

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20GeneTests
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Classifications:

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


Aliases & Descriptions:

isolated aniridia 20


Related Diseases for Isolated Aniridia

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17GeneCards, 18GeneDecks
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Diseases related to Isolated Aniridia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1aniridia10.4

Symptoms for Isolated Aniridia

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Drugs & Therapeutics for Isolated Aniridia

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

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Search NIH Clinical Center for Isolated Aniridia

Genetic Tests for Isolated Aniridia

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20GeneTests
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Genetic tests related to Isolated Aniridia:

id Genetic test Affiliating Genes
1 Isolated Aniridia20 PAX6

Anatomical Context for Isolated Aniridia

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Animal Models for Isolated Aniridia or affiliated genes

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Publications for Isolated Aniridia

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52PubMed
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Articles related to Isolated Aniridia:

idTitleAuthorsYear
1
A novel heterozygous deletion within the 3' region of the PAX6 gene causing isolated aniridia in a large family group. (19793656)
2009
2
Corneal laceration with total but isolated aniridia caused by a pecking injury. (11020631)
2000
3
Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia. (2817003)
1989
4
Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)]. (3754537)
1986

Variations for Isolated Aniridia

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Expression for genes affiliated with Isolated Aniridia

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Isolated Aniridia

Search GEO for disease gene expression data for Isolated Aniridia.

Pathways for genes affiliated with Isolated Aniridia

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Compounds for genes affiliated with Isolated Aniridia

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GO Terms for genes affiliated with Isolated Aniridia

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Products for genes affiliated with Isolated Aniridia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Isolated Aniridia

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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