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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 Iiib (USH3B)
Alias:
Usher Syndrome Type 3b
Ush3b
Usher Syndrome Type Iiib
Usher Syndrome, Type 3b
Usher Syndrome 3b
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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Iiib,也被称为Usher综合症3b,与bagassosis和Usher综合症有关,症状包括畏光。与Usher综合症,类型Iiib有关的重要基因是HARS1(组氨酸-TRNA合成酶1),其相关通路/超级通路包括蛋白质代谢和肽链延长。附属组织包括视网膜和眼睛,相关表型为听力障碍和视觉障碍。
Related ID:
MALACARDS:USH044
OMIM:614504
MESH:D052245
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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9
37
4
USH044
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
PMID
Journal
Year
IF
No Data Found!
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