MCID: ISL011

Isolated Aniridia malady

Category: Genetic diseases (common)

Aliases & Classifications for Isolated Aniridia

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Aliases & Descriptions for Isolated Aniridia:

Name: Isolated Aniridia 23

Classifications:



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).

Related Diseases for Isolated Aniridia

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

idRelated DiseaseScoreTop Affiliating Genes
1aniridia11.6

Symptoms for Isolated Aniridia

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Drugs & Therapeutics for Isolated Aniridia

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Characterization of WAGR Syndrome and Other Chromosome 11 Gene DeletionsCompletedNCT00758108
2Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168

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 Aniridia23 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 splice site mutation in the PAX6 gene in a Korean family with isolated aniridia. (25696017)
2015
2
A novel heterozygous deletion within the 3' region of the PAX6 gene causing isolated aniridia in a large family group. (19793656)
2009
3
Corneal laceration with total but isolated aniridia caused by a pecking injury. (11020631)
2000
4
Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia. (2817003)
1989
5
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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Search GEO for disease gene expression data for Isolated Aniridia.

Pathways for genes affiliated with Isolated Aniridia

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GO Terms for genes affiliated with Isolated Aniridia

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Sources for Isolated Aniridia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet