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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 I (USH1)
Alias:
Usher Syndrome Type 1
Ush1
Usher Syndrome, Type Ib
Usher Syndrome Type 1e
Usher Syndrome, Type Ie
Usher Syndrome, Type 1b
Usher Syndrome, Type 1e
Usher Syndrome Type 1b
Ush1e
Us1
Retinitis Pigmentosa and Congenital Deafness
Usher's Syndrome Type 1b
Usher Syndrome Type Ie
Usher Syndrome Type Ib
Usher Syndrome Type I
Usher Syndrome 1b
Usher 1
Ush1b
Ushib
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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1型,也称为Usher综合症1型,与Usher综合症IC型和Usher综合症ID型有关,症状包括未指明的视力丧失。与Usher综合症1型有关的重要基因是MYO7A(肌球蛋白VIIA),其相关通路/超级通路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,相关表型为智力障碍和共济失调。
Related ID:
MALACARDS:USH036
OMIM:276900
MESH:D052245
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
1-9/100000
79
705
176
USH036
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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