Deafness, Autosomal Recessive 104 (DFNB104)

Alias:
Dfnb104
Autosomal Recessive Nonsyndromic Deafness 104
Autosomal Recessive Nonsyndromic Hearing Loss 104
Deafness, Autosomal Recessive, Type 104
Deafness, Autosomal Recessive, 104
Autosomal Recessive Deafness 104
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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104,也被称为dfnb104,与先天性聋,常染色体显性79和先天性聋,常染色体显性3a有关。与先天性聋,常染色体隐性104有关的重要基因是RIPOR2(RHO家族相互作用细胞极化调节因子2),其相关通路/超级通路包括信号转导和Rho GTPases信号转导。相关组织包括大脑,相关表型为先天性耳聋和脑干听觉反应缺失。
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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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12
59
1

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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