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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
Rasopathy
Alias:
Ras/mitogen-Activated Protein Kinase Syndrome
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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
Rasopathy,又称ras/丝裂原活化蛋白激酶综合征,与 Noonan 综合征伴有多个色素沉着斑和 Noonan 综合征 1 有关。与 Rasopathy 有关的重要基因是 PTPN11(非受体酪氨酸磷酸酶 11),其相关通路/超通路包括传染病和 ERK 信号通路。附属组织包括髓系和心脏,相关表型为生存能力降低和 shRNA 密度增加(Z 分数 > 2)。
Related ID:
MALACARDS:RSP023
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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165
2450
520
RSP023
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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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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PMID
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IF
No Data Found!
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