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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
Hereditary Spastic Paraplegia 18 (IDMDC)
Alias:
Autosomal Recessive Spastic Paraplegia Type 18
Spg18
Intellectual Disability, Motor Dysfunction and Joint Contractures
Autosomal Recessive Spastic Paraplegia 18
Idmdc
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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18型,又称常染色体隐性痉挛性截瘫18型,与侧索硬化症和痉挛有关。与遗传性痉挛性截瘫18型有关的重要基因是ERLIN2(ER脂筏相关2),其相关通路/超级通路包括细胞骨架信号转导。相关组织包括大脑,相关表型包括p24蛋白表达减少和神经系统。
Related ID:
MALACARDS:HRD240
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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15
62
2
HRD240
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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