MCID: ANR020
MIFTS: 15

Aniridia, Cerebellar Ataxia, and Mental Retardation malady

Genetic diseases (common), Neuronal diseases, Mental diseases categories

Summaries for Aniridia, Cerebellar Ataxia, and Mental Retardation

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MalaCards based summary: Aniridia, Cerebellar Ataxia, and Mental Retardation is related to gillespie syndrome and cerebellar ataxia. An important gene associated with Aniridia, Cerebellar Ataxia, and Mental Retardation is PAX6 (paired box 6).

Aliases & Classifications for Aniridia, Cerebellar Ataxia, and Mental Retardation

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Aniridia, Cerebellar Ataxia, and Mental Retardation, Aliases & Descriptions:

Name: Aniridia, Cerebellar Ataxia, and Mental Retardation 21 23


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Neuronal diseases, Mental diseases


Related Diseases for Aniridia, Cerebellar Ataxia, and Mental Retardation

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Diseases related to Aniridia, Cerebellar Ataxia, and Mental Retardation via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1gillespie syndrome10.7
2cerebellar ataxia10.7
3aniridia10.7
4mental retardation10.7
5ataxia10.7

Graphical network of diseases related to Aniridia, Cerebellar Ataxia, and Mental Retardation:



Diseases related to aniridia, cerebellar ataxia, and mental retardation

Symptoms for Aniridia, Cerebellar Ataxia, and Mental Retardation

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Drugs & Therapeutics for Aniridia, Cerebellar Ataxia, and Mental Retardation

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Drug clinical trials:

Search ClinicalTrials for Aniridia, Cerebellar Ataxia, and Mental Retardation

Search NIH Clinical Center for Aniridia, Cerebellar Ataxia, and Mental Retardation

Genetic Tests for Aniridia, Cerebellar Ataxia, and Mental Retardation

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Genetic tests related to Aniridia, Cerebellar Ataxia, and Mental Retardation:

id Genetic test Affiliating Genes
1 Aniridia, Cerebellar Ataxia, and Mental Retardation21 23 PAX6

Anatomical Context for Aniridia, Cerebellar Ataxia, and Mental Retardation

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Animal Models for Aniridia, Cerebellar Ataxia, and Mental Retardation or affiliated genes

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Publications for Aniridia, Cerebellar Ataxia, and Mental Retardation

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Articles related to Aniridia, Cerebellar Ataxia, and Mental Retardation:

idTitleAuthorsYear
1
Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation). (8188215)
1994
2
Gillespie syndrome, partial aniridia, cerebellar ataxia and mental retardation in mother and daughter. (7952360)
1993
3
Syndrome of partial aniridia, cerebellar ataxia, and mental retardation--Gillespie syndrome. (2333873)
1990

Variations for Aniridia, Cerebellar Ataxia, and Mental Retardation

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Expression for genes affiliated with Aniridia, Cerebellar Ataxia, and Mental Retardation

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Expression patterns in normal tissues for genes affiliated with Aniridia, Cerebellar Ataxia, and Mental Retardation

Search GEO for disease gene expression data for Aniridia, Cerebellar Ataxia, and Mental Retardation.

Pathways for genes affiliated with Aniridia, Cerebellar Ataxia, and Mental Retardation

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Compounds for genes affiliated with Aniridia, Cerebellar Ataxia, and Mental Retardation

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GO Terms for genes affiliated with Aniridia, Cerebellar Ataxia, and Mental Retardation

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Products for genes affiliated with Aniridia, Cerebellar Ataxia, and Mental Retardation

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

Sources for Aniridia, Cerebellar Ataxia, and Mental Retardation

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet