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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
Rare Genetic Deafness
Alias:
Rare Genetic Hearing Loss
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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
罕见遗传性耳聋,又称罕见遗传性听力损失,与耳聋、常染色体隐性2型和耳聋、常染色体显性3a型有关。与罕见遗传性耳聋有关的重要基因是ADGRV1(粘附G蛋白偶联受体V1),其相关通路/超级通路包括氨基糖苷类耳毒性通路、不良药物反应。附属组织包括甲状腺和骨,相关表型为神经系统和听觉/前庭/耳。
Related ID:
MALACARDS:RRG078
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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58
698
822
RRG078
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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