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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
Spinocerebellar Ataxia 36 (SCA36)
Alias:
Spinocerebellar Ataxia Type 36
Sca36
Ataxia, Spinocerebellar, Type 36
Costa De Morte Ataxia
Asidan Ataxia
Asidan
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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
脊髓小脑性共济失调36型,又称脊髓小脑性共济失调36型,与橄榄脑桥小脑萎缩和侧索硬化症有关,症状包括小脑共济失调和步态共济失调。与脊髓小脑性共济失调36型有关的重要基因是NOP56(NOP56核糖核蛋白)。相关组织包括舌和脊髓,相关表型为共济失调和构音障碍。
Related ID:
MALACARDS:SPN265
OMIM:614153
MESH:D020754
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
成年期
--
18
140
3
SPN265
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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