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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
Spina Bifida Occulta
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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
脊柱裂隐性是一种与脑膜膨出和脊髓脊膜膨出相关的疾病。与脊柱裂隐性相关的基因是MTHFR(甲硫氨酸四氢叶酸还原酶),其相关通路/超级通路包括巴德-毕德氏综合症和叶酸代谢和转运障碍。在该疾病的背景下提到了乙酰唑胺和碳酸酐酶抑制剂。相关组织包括脊髓和骨,相关表型包括生长/大小/身体区域和神经系统。
Related ID:
MALACARDS:SPN221
MESH:D016136
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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20
176
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SPN221
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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