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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Nephronophthisis 15 (NPHP15)
Alias:
Nphp15
Nephronophthisis, Type 15
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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
NPHP15,也称为nphp15,与NPHP14和NPHP9有关。与NPHP15有关的重要基因是CEP164(中心体蛋白164),其相关通路/超级通路包括有丝分裂中心体中Nlp的丧失和细胞器生物发生和维护。相关组织包括肝脏和肾脏,相关表型为肾小管性肾病和视网膜退化。
Related ID:
MALACARDS:NPH069
OMIM:614845
MESH:D052177
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
10
84
11
NPH069
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
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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