Nephronophthisis 16 (NPHP16)

Alias:
Nphp16
Nephronophthisis, Type 16
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Nephronophthisis 16, also known as nphp16, is related to nephronophthisis 11 and macular degeneration, atrophic, x-linked. An important gene associated with Nephronophthisis 16 is ANKS6 (Ankyrin Repeat And Sterile Alpha Motif Domain Containing 6), and among its related pathways/superpathways are Ciliary landscape and Bardet-Biedl syndrome. Affiliated tissues include liver and kidney, and related phenotypes are renal insufficiency and polycystic kidney dysplasia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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8
39
3

Medical Symptom

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

Gene & Mutation

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Mutations
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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
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IF
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