MCID: CRB053
MIFTS: 10

Cerebellar Agenesis malady

Summaries for Cerebellar Agenesis

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32MalaCards
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MalaCards: Cerebellar Agenesis is related to diabetes mellitus, permanent neonatal, with cerebellar agenesis and hydrocephalus. An important gene associated with Cerebellar Agenesis is PTF1A (pancreas specific transcription factor, 1a). Related mouse phenotypes are liver/biliary system and tumorigenesis.

Aliases & Classifications for Cerebellar Agenesis

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42NIH Rare Diseases
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Aliases & Descriptions:

cerebellar agenesis 42


Related Diseases for Cerebellar Agenesis

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17GeneCards, 18GeneDecks
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Diseases related to Cerebellar Agenesis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1diabetes mellitus, permanent neonatal, with cerebellar agenesis10.3
2hydrocephalus10.1
3diabetes insipidus9.9
4neonatal diabetes mellitus9.9
5communicating hydrocephalus9.9
6diabetes mellitus9.9
7pancreatitis9.9
8cerebellum agenesis hydrocephaly9.9

Graphical network of diseases related to Cerebellar Agenesis:



Diseases related to cerebellar agenesis

Clinical Features for Cerebellar Agenesis

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Drugs & Therapeutics for Cerebellar Agenesis

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

Search CenterWatch for Cerebellar Agenesis

Drug clinical trials:

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Search NIH Clinical Center for Cerebellar Agenesis

Search CenterWatch for Cerebellar Agenesis

Genetic Tests for Cerebellar Agenesis

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Anatomical Context for Cerebellar Agenesis

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Animal Models for Cerebellar Agenesis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Cerebellar Agenesis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.1PTF1A, TRIM24
2MP:00020068.8PTF1A, TRIM24

Publications for Cerebellar Agenesis

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Genetic Variations for Cerebellar Agenesis

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Expression for genes affiliated with Cerebellar Agenesis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cerebellar Agenesis

Search GEO for disease gene expression data for Cerebellar Agenesis.

Pathways for genes affiliated with Cerebellar Agenesis

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Compounds for genes affiliated with Cerebellar Agenesis

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GO Terms for genes affiliated with Cerebellar Agenesis

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16Gene Ontology
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Molecular functions related to Cerebellar Agenesis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:0435659.1PTF1A, TRIM24

Products for genes affiliated with Cerebellar Agenesis

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Cerebellar Agenesis

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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