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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
Seminoma
Alias:
Seminoma, Pure
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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
精原细胞瘤,也称为精原细胞瘤,纯种,与外周生殖细胞瘤和纵隔精原细胞瘤有关。与精原细胞瘤相关的重要基因是KIT(KIT原癌基因,受体酪氨酸激酶),其相关通路/超级通路包括胚胎和诱导多能干细胞和特异性标记物和AP-2(TFAP2)家族转录因子的转录调节。在该疾病的背景下提到了格拉尼塞酮和Picropodophyllin药物。附属组织包括睾丸和淋巴结,相关表型为shRNA丰度增加(Z-score>2)和内分泌/外分泌腺
Related ID:
MALACARDS:SMN007
MESH:D018239
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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36
548
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SMN007
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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