Deafness, Autosomal Recessive 30 (DFNB30)

Alias:
Dfnb30
Autosomal Recessive Nonsyndromic Deafness 30
Autosomal Recessive Nonsyndromic Hearing Loss 30
Deafness, Autosomal Recessive, Type 30
Deafness, Autosomal Recessive, 30
Autosomal Recessive Deafness 30
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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30型,也被称为dfnb30,与非综合征性听力损失和先天性聋,常染色体隐性25型有关。与先天性聋,常染色体隐性30型有关的重要基因是MYO3A(肌球蛋白IIIa),其相关通路/超级通路包括ERK信号通路和整合素通路。相关表型为进行性听力损伤和进行性感觉神经性听力损伤。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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14
187
4

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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