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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 Ij (USH1J)
Alias:
Usher Syndrome Type 1j
Ush1j
Usher Syndrome Type Ij
Usher's Syndrome Type 1j
Usher Syndrome, Type 1j
Usher Syndrome 1j
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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Ij型,也称为Usher综合症1j型,与罕见的遗传性耳聋和感音神经性听力损失有关。与Usher综合症Ij型相关的重要的基因是CIB2(钙和整合素结合家族成员2),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。附属组织包括视网膜和眼睛,相关表型包括运动延迟和视杆-视锥性黄斑病变。
Related ID:
MALACARDS:USH031
OMIM:614869
MESH:D052245
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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8
70
3
USH031
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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