MCID: ISL011

Isolated Aniridia malady

Genetic diseases (common) category
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Summaries for Isolated Aniridia

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MalaCards based summary: 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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Isolated Aniridia, Aliases & Descriptions:

Name: Isolated Aniridia 20


Classifications:

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


Related Diseases for Isolated Aniridia

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

idRelated DiseaseScoreTop Affiliating Genes
1aniridia10.5

Symptoms for Isolated Aniridia

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Drugs & Therapeutics for Isolated Aniridia

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Drug clinical trials:

Search ClinicalTrials for Isolated Aniridia

Search NIH Clinical Center for Isolated Aniridia

Genetic Tests for Isolated Aniridia

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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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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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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

Sources for Isolated Aniridia

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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