MCID: ANR020
MIFTS: 17

Aniridia, Cerebellar Ataxia, and Mental Retardation malady

Genetic diseases (common), Neuronal diseases, Mental diseases categories
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Summaries for Aniridia, Cerebellar Ataxia, and Mental Retardation

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33MalaCards
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MalaCards: Aniridia, Cerebellar Ataxia, and Mental Retardation, also known as gillespie syndrome, is related to gillespie syndrome and aniridia. 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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62UMLS, 20GeneTests, 22GTR
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Classifications:

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


Aliases & Descriptions:

aniridia, cerebellar ataxia, and mental retardation 20 22
gillespie syndrome 62


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
1gillespie syndrome10.7
2aniridia10.7
3cerebellar ataxia10.7
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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42NIH Clinical Center, 6ClinicalTrials
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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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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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52PubMed
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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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Aniridia, Cerebellar Ataxia, and Mental Retardation:

1
id Gene Name Type Significance SNP ID Assembly Location
1PAX6NM_000280.4(PAX6): c.771G> A (p.Trp257Ter)single nucleotide variantPathogenicrs121907929GRCh37Chr 11, 31815345: 31815345

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

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2BioGPS, 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
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Sources for Aniridia, Cerebellar Ataxia, and Mental Retardation

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet