Digenic Disease

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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Digenic Disease is related to spinocerebellar ataxia 17 and pontocerebellar hypoplasia, type 15. An important gene associated with Digenic Disease is MBD3L2 (Methyl-CpG Binding Domain Protein 3 Like 2), and among its related pathways/superpathways are Disorders of transmembrane transporters and Proximal tubule transport. Related phenotype is Increased shRNA abundance (Z-score > 2).
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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26
177
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Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Score
Mutations
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Related Drugs

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Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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