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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
Solitary Fibrous Tumor/hemangiopericytoma
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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
孤立性纤维瘤/血管周细胞瘤与血管周细胞瘤、恶性血管周细胞瘤和血管性脑膜瘤有关。与孤立性纤维瘤/血管周细胞瘤相关的重要基因是NAB2(NGFI-A结合蛋白2),其相关通路/超通路包括RUNX1与尚不清楚其对RUNX1靶点的确切影响的共因子相互作用,以及SMARCB1的肿瘤抑制活性。附属组织包括脊髓和松果体。
Related ID:
MALACARDS:SLT016
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
全年龄段
--
12
84
--
SLT016
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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