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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
Chordoma (CHDM)
Alias:
Notochordal Sarcoma
Chdm
Notochordoma
Chordoma, Susceptibility to
Chordoepithelioma
Chordocarcinoma
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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
软骨瘤,又名中胚层肉瘤,与软骨肉瘤和肉瘤有关。与软骨瘤相关的重要基因是CHDM(软骨瘤),其相关通路/超级通路包括COPI独立的高尔基体至内质网逆行交通和细胞骨架信号转导。在该疾病的背景下提到了药物雷帕霉素和西罗莫司。附属组织包括骨和脊髓,相关表型为软骨瘤和星形细胞瘤。
Related ID:
MALACARDS:CHR072
OMIM:215400
MESH:D002817
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
成年期
<1/1000000
50
938
8
CHR072
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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