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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
Distal Hereditary Motor Neuropathy Type 7 (DHMN7)
Alias:
Distal Spinal Muscular Atrophy with Vocal Cord Paralysis
Dhmn7
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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
远端遗传性运动神经病7型,也称为远端脊髓性肌萎缩伴声带麻痹,与远端遗传性运动神经病7型和肌萎缩有关。与远端遗传性运动神经病7型有关的重要基因是DCTN1(动力蛋白辅因子1)。
Related ID:
MALACARDS:DST092
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
孩童期
--
2
10
--
DST092
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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