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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
Pontocerebellar Hypoplasia, Type 2c (PCH2C)
Alias:
Pontocerebellar Hypoplasia Type 2c
Pch2c
Hypoplasia, Pontocerebellar, Type 2c
Pontocerebellar Hypoplasia 2c
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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
PCH2C(桥脑小脑发育不全2c型)也被称为PCH2C。与PCH2C相关的基因是TSEN34(转运RNA剪接内切酶亚基34)。相关组织包括脊髓和小脑,相关表型为舞蹈病和小头畸形。
Related ID:
MALACARDS:PNT048
OMIM:612390
MESH:C567324
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
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2
PNT048
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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