Nephronophthisis 20 (NPHP20)

Alias:
Nphp20
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Nephronophthisis 20, also known as nphp20, is related to joubert syndrome 21 and nephronophthisis 15. An important gene associated with Nephronophthisis 20 is MAPKBP1 (Mitogen-Activated Protein Kinase Binding Protein 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Ciliary landscape. Affiliated tissues include liver and kidney, and related phenotypes are renal insufficiency and nephronophthisis
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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9
64
1

Medical Symptom

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

Gene & Mutation

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Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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