Nephronophthisis-Like Nephropathy 1 (NPHPL1)

Alias:
Nphpl1
Nephronophthisis-Like Nephropathy, Type 1
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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
Nephronophthisis-Like Nephropathy 1,也被称为nphpl1,与Nephronophthisis和ciliopathy有关。与Nephronophthisis-Like Nephropathy 1相关的基因是XPNPEP3(X-Prolyl Aminopeptidase 3)。附属组织包括肾脏,相关表型为Nephronophthisis和肾小管萎缩。
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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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7
44
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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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

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PMID
Journal
Year
IF
No Data Found!
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