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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
Spastic Paraplegia 89, Autosomal Recessive (SPG89)
Alias:
Spg89
Autosomal Recessive Spastic Paraplegia 89
Hereditary Spastic Paraplegia 89
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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
遗传性痉挛性截瘫89型,常染色体隐性遗传,也被称为spg89。与遗传性痉挛性截瘫89型,常染色体隐性遗传相关的基因是AMFR(自分泌运动因子受体)。相关组织包括大脑,相关表型包括运动延迟和痉挛性截瘫。
Related ID:
MALACARDS:SPS253
OMIM:620379
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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1
12
1
SPS253
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
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Publications
No data available
References Literature
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IF
No Data Found!
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