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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
Joubert Syndrome 38 (JBTS38)
Alias:
Jbts38
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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
Joubert Syndrome 38,也被称为jbts38。与Joubert Syndrome 38相关的基因是KIAA0753(KIAA0753)。相关组织包括垂体和肝脏,相关表型包括全球发育延迟和内眦赘皮。
Related ID:
MALACARDS:JBR050
OMIM:619476
MESH:D002526
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
2
1
JBR050
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
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Journal
Year
IF
No Data Found!
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