Deafness, Autosomal Recessive 117 (DFNB117)

Alias:
Dfnb117
Hearing Loss, Autosomal Recessive 117
Deafness, Autosomal Recessive, 117
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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117,也被称为dfnb117。与先天性聋,常染色体隐性117有关的重要基因是CLRN2(克拉林2)。相关组织包括大脑,相关表型为感音神经性听力障碍和异常前庭功能。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
4
1

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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CAS Number
Status
Phase
No data available

Disease Model

Category
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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