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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, Autosomal Recessive 11 (SCAR11)
Alias:
Scar11
Autosomal Recessive Spinocerebellar Ataxia 11
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Ataxia, Spinocerebellar, Autosomal Recessive, Type 11
Autosomal Recessive Spinocerebellar Ataxia Type 11
Spinocerebellar Ataxia, Autosomal Recessive, 11
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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11型,又称为scar11,症状包括小脑共济失调和躯干共济失调。与脊髓小脑性共济失调11型相关的基因是SYT14(突触泡蛋白14)。相关组织包括脊髓和小脑,相关表型包括智力障碍和共济失调。
Related ID:
MALACARDS:SPN254
OMIM:614229
MESH:D002524
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
孩童期
--
1
4
1
SPN254
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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