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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
Specific Developmental Disorder
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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
特定发育障碍与学习障碍和言语和沟通障碍有关。与特定发育障碍有关的重要基因是CBS(半胱氨酸β合酶),其相关通路/超通路包括神经科学和普拉德-威利和安吉曼综合症。附属组织包括甲状腺和大脑,相关表型包括神经系统和稳态/新陈代谢。
Related ID:
MALACARDS:SPC003
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
--
104
1642
--
SPC003
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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