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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
Usher Syndrome, Type Iiia (USH3A)
Alias:
Usher Syndrome Type 3
Ush3
Usher Syndrome Type 3a
Usher Syndrome, Type Iii
Ush3a
Usher Syndrome, Type 3a
Usher Syndrome, Type 3
Usher Syndrome Type Iiia
Usher's Syndrome Type 3
Usher Syndrome Type Iii
Usher Syndrome Iii
Usher Syndrome 3a
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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
Usher综合症,类型Iiia,也被称为Usher综合症类型3,与Usher综合症,类型Ij和Usher综合症,类型Iic有关。与Usher综合症,类型Iiia有关的一个重要基因是CLRN1(Clarin 1),在其相关通路/超级通路中包括嗅觉信号通路和声音感觉处理通路。附属组织包括眼睛和视网膜,相关表型包括感觉神经性听力障碍和异常电视网膜图。
Related ID:
MALACARDS:USH038
OMIM:276902
MESH:D052245
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
孩童期
1-9/1000000
40
394
35
USH038
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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