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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
Deafness, Autosomal Recessive 24 (DFNB24)
Alias:
Deafness, Autosomal Recessive, 24
Dfnb24
Autosomal Recessive Nonsyndromic Deafness 24
Autosomal Recessive Nonsyndromic Hearing Loss 24
Deafness, Autosomal Recessive, Type 24
Autosomal Recessive Deafness 24
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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
先天性聋,常染色体隐性24型,又称先天性聋,常染色体隐性24型,与非综合征性听力损失和先天性聋,常染色体隐性29型有关。与先天性聋,常染色体隐性24型有关的重要基因是RDX(Radixin),其相关通路/超级通路包括嗅觉信号通路和细胞骨架信号通路。相关组织包括大脑,相关表型为严重的感音神经性听力损失和神经系统。
Related ID:
MALACARDS:DFN252
OMIM:611022
MESH:D006319
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
11
76
2
DFN252
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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