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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
Ciliary Dyskinesia, Primary, 8 (CILD8)
Alias:
Primary Ciliary Dyskinesia 8
Cild8
Ciliary Dyskinesia, Primary, 8, with or Without Situs Inversus
Primary Ciliary Dyskinesia 8 with or Without Situs Inversus
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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
纤毛运动障碍,原发性,8,也称为原发性纤毛运动障碍8,与纤毛运动障碍,原发性,27和X连锁锥-棒状视网膜病变1有关。与纤毛运动障碍,原发性,8有关的重要基因是CILD8(纤毛运动障碍,原发性,8)。相关表型是转录活性增加和生长/大小/身体部位增加。
Related ID:
MALACARDS:CLR069
OMIM:612274
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
15
119
2
CLR069
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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