MCID: ISL011

Isolated Aniridia malady

Genetic diseases (common) category

Summaries for Isolated Aniridia

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Sources:
34MalaCards
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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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Sources:
21GeneTests
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Classifications:

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


Aliases & Descriptions:

isolated aniridia 21


Related Diseases for Isolated Aniridia

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Sources:
18GeneCards, 19GeneDecks
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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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Isolated Aniridia

Drug clinical trials:

Search ClinicalTrials for Isolated Aniridia

Search NIH Clinical Center for Isolated Aniridia

Search CenterWatch for Isolated Aniridia

Genetic Tests for Isolated Aniridia

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Sources:
21GeneTests
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Genetic tests related to Isolated Aniridia:

id Genetic test Affiliating Genes
1 Isolated Aniridia21 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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53PubMed
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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, 16Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet