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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Deafness, Autosomal Recessive 120 (DFNB120)
Alias:
Dfnb120
Hearing Loss, Autosomal Recessive 120
Deafness, Autosomal Recessive, 120
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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
先天性非综合征性耳聋120型,也被称为dfnb120。与先天性非综合征性耳聋120型相关的基因是MINAR2(膜内NOTCH2相关受体2)。相关组织包括大脑,相关表型为感音神经性听力障碍。
Related ID:
MALACARDS:DFN401
OMIM:620238
MESH:D006319
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
2
10
1
DFN401
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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