MCID: ANR020
MIFTS: 17

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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34MalaCards
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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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63UMLS, 21GeneTests, 23GTR
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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 21 23
gillespie syndrome 63


Related Diseases for Aniridia, Cerebellar Ataxia, and Mental Retardation

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

Search CenterWatch for Aniridia, Cerebellar Ataxia, and Mental Retardation

Drug clinical trials:

Search ClinicalTrials for Aniridia, Cerebellar Ataxia, and Mental Retardation

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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21GeneTests, 23GTR
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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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53PubMed
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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, 16Gene 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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  • Antibodies

Sources for Aniridia, Cerebellar Ataxia, and Mental Retardation

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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