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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
Familial or Sporadic Hemiplegic Migraine
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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
家族性或散发性偏瘫性头痛与偏头痛、家族性偏瘫性头痛和家族性偏瘫性头痛有关。与家族性或散发性偏瘫性头痛有关的重要基因是ATP1A2(钠钾转运ATP酶α2亚基),其相关通路/超级通路包括囊泡通路。附属组织包括舌和脑,相关表型为EEG异常和肌肉无力。
Related ID:
MALACARDS:FML306
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
孩童期
1-5/10000
4
82
--
FML306
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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