Retinitis Pigmentosa 14 (RP14)

Alias:
Rp14
Retinitis Pigmentosa Juvenile Tulp1-Related
Retinitis Pigmentosa, Type 14
Retinitis Pigmentosa-14
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
视网膜色素变性14,也称为rp14,与视网膜炎和视网膜色素变性有关。与视网膜色素变性14相关的基因是TULP1(TUB样蛋白1),其相关通路/超级通路包括SARS-CoV-2感染和SLITs和ROBOs的表达调控。相关组织包括视网膜和眼睛,相关表型包括眼球震颤和视力下降。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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13
71
12

Medical Symptom

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

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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