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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
Noonan Syndrome 7 (NS7)
Alias:
Ns7
Noonan Syndrome, Type 7
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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
Noonan Syndrome 7,也被称为ns7,与Noonan综合征和Noonan相关综合征以及星形细胞瘤有关。Noonan Syndrome 7相关的一个重要基因是BRAF(B-Raf原癌基因,丝氨酸/苏氨酸激酶),其相关通路/超级通路包括MAP激酶信号通路和致癌MAP激酶信号通路。相关组织包括心脏和皮肤,相关表型为巨脑和智力障碍。
Related ID:
MALACARDS:NNN020
OMIM:613706
MESH:D009634
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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9
63
2
NNN020
Medical Symptom
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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Mutations
No data available
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Name
CAS Number
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Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
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References Literature
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IF
No Data Found!
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