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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
Malignant Pineal Area Germ Cell Neoplasm
Alias:
Pineal Germ Cell Tumor
Malignant Pineal Parenchymal Germ Cell Tumor
Malignant Pineal Region Germ Cell Tumor
Pineal Region Germ Cell Tumor
Pineal Germinoma
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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
恶性松果体区生殖细胞瘤,又称为松果体生殖细胞瘤,与生殖细胞瘤和恶性畸胎瘤有关。与恶性松果体区生殖细胞瘤相关的重要基因是RUNDC3A(RUN域包含3A),其相关通路/超通路包括多能干细胞的转录调控。在该疾病的背景下提到了Lenograstim和Picropodophyllin药物。附属组织包括松果体。
Related ID:
MALACARDS:MLG078
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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9
58
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MLG078
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
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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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IF
No Data Found!
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