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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
Charcot-Marie-Tooth Disease, Demyelinating, Type 1i (CMT1I)
Alias:
Charcot-Marie-Tooth Neuropathy, Type 1i
Cmt1i
Charcot-Marie-Tooth Disease, Demyelinating, Iia 1i
Charcot-Marie-Tooth Disease, Demyelinating, 1i
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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
Charcot-Marie-Tooth病,脱髓性,类型1i,也称为Charcot-Marie-Tooth神经病,类型1i,与polr3相关的白质营养不良和Charcot-Marie-Tooth病有关。与Charcot-Marie-Tooth病,脱髓性,类型1i有关的重要基因是POLR3B(RNA聚合酶III亚基B)。相关组织包括大脑,相关表型为智力障碍和言语障碍
Related ID:
MALACARDS:CHR724
OMIM:619742
MESH:D002607
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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1
8
3
CHR724
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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