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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
Neuroblastoma (NB)
Alias:
Neuroblastoma, Susceptibility to
Central Neuroblastoma
Neuroblastomas
Nb
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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
神经母细胞瘤,也称为中心神经母细胞瘤,与分化神经母细胞瘤和视网膜母细胞瘤有关,症状包括背痛、头痛和疼痛。与神经母细胞瘤有关的重要基因是ALK(ALK受体酪氨酸激酶)。尼古丁和伊曲康唑已在这种疾病的背景下被提及。附属组织包括肾上腺和脊髓,相关表型为神经系统肿瘤和尿液儿茶酚胺水平升高。
Related ID:
MALACARDS:NRB001
MESH:D009447
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
孩童期
1-5/10000
269
3664
25
NRB001
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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