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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
非罕见病
Clivus Chordoma
Alias:
Chordoma of Clivus
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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
颅咽管瘤,又称颅咽管瘤,与颅咽管瘤和结节性硬化症1有关,症状包括头痛。与颅咽管瘤有关的重要基因是COTL1(Coactosin Like F-Actin Binding Protein 1),其相关通路/超级通路包括非整合素膜-ECM相互作用。在该疾病的背景下,已提到阿法替尼和蛋白激酶抑制剂。附属组织包括骨和淋巴结。
Related ID:
MALACARDS:CLV002
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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8
47
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CLV002
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
Strain of Origin
Publications
No data available
References Literature
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IF
No Data Found!
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