Deafness, Autosomal Dominant 10 (DFNA10)

Alias:
Dfna10
Autosomal Dominant Nonsyndromic Deafness 10
Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 10
Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 10
Autosomal Dominant Nonsyndromic Hearing Loss 10
Deafness, Autosomal Dominant, Type 10
Deafness, Autosomal Dominant, 10
Autosomal Dominant Deafness 10
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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
听觉丧失,常染色体显性10,也被称为dfna10,与扩张型心肌病1j和常染色体显性听觉丧失12有关。与听觉丧失,常染色体显性10有关的重要基因是EYA4(EYA转录激活因子和磷酸酶4),其相关通路/超通路包括DNA双链断裂反应和声音感觉处理。相关组织包括大脑,相关表型包括Nanog表达增加和神经系统。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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17
176
9

Medical Symptom

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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

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Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
No Data Found!
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