MCID: ANR020
MIFTS: 13

Aniridia, Cerebellar Ataxia, and Mental Retardation malady

Neuronal diseases category

Summaries for Aniridia, Cerebellar Ataxia, and Mental Retardation

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32MalaCards
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MalaCards: Aniridia, Cerebellar Ataxia, and Mental Retardation, also known as gillespie syndrome, is related to aniridia 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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20GeneTests, 22GTR, 60UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Aliases & Descriptions:

aniridia, cerebellar ataxia, and mental retardation 20 22
gillespie syndrome 60


Related Diseases for Aniridia, Cerebellar Ataxia, and Mental Retardation

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17GeneCards, 18GeneDecks
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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
1aniridia30.9PAX6
2cerebellar ataxia10.6
3aniridia, cerebellar ataxia and mental deficiency10.3
4peters plus syndrome10.0PAX6

Clinical Features for Aniridia, Cerebellar Ataxia, and Mental Retardation

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

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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

Search CenterWatch for Aniridia, Cerebellar Ataxia, and Mental Retardation

Genetic Tests for Aniridia, Cerebellar Ataxia, and Mental Retardation

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20GeneTests, 22GTR
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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 Retardation20 22 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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Genetic 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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1BioGPS, 15Gene Expression Omnibus DataSets
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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

Sources for Aniridia, Cerebellar Ataxia, and Mental Retardation

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet