Retinitis Pigmentosa 67 (RP67)

Alias:
Rp67
Retinitis Pigmentosa, Type 67
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Retinitis Pigmentosa 67, also known as rp67, is related to noonan syndrome with multiple lentigines and breast adenocarcinoma. An important gene associated with Retinitis Pigmentosa 67 is NEK2 (NIMA Related Kinase 2), and among its related pathways/superpathways are Sertoli-Sertoli Cell Junction Dynamics and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. Affiliated tissues include retina and eye, and related phenotypes are rod-cone dystrophy and Increased telomerase activity
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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5
49
2

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
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Publications
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References Literature

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