Deafness, Autosomal Recessive 62 (DFNB62)

Alias:
Autosomal Recessive Nonsyndromic Deafness 62
Dfnb62
Autosomal Recessive Deafness 62
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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62型,又称常染色体隐性非综合征性聋62型,与先天性聋,常染色体隐性和外斜视有关。与先天性聋,常染色体隐性62型相关的重要基因是DFNB62(先天性聋,常染色体隐性62型),其相关通路/超级通路包括无机离子/氨基酸/寡肽的运输和Angiopoietin-like蛋白8的调节通路。相关表型为前语言感觉神经性听力损伤。

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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5
28
1

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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