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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
Paraganglioma
Alias:
Extra-Adrenal Paraganglioma
Carotid Body Paraganglioma
Glomus Body Tumor
Paragangliomas
Chemodectoma
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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
副神经节瘤,又称肾上腺外副神经节瘤,与遗传性副神经节瘤-嗜铬细胞瘤综合征和嗜铬细胞瘤/副神经节瘤综合征1有关,症状包括失音。与副神经节瘤有关的重要基因是SDHB(琥珀酸脱氢酶复合物铁硫亚基B),其相关通路/超级通路包括呼吸电子传递、化学耦合合成ATP和解耦联蛋白产生的热量。神经科学。在该疾病的背景下,提到的药物有苯氧基苯胺和血管扩张剂。附属组织包括肾上腺和甲状腺,相关表型为生存能力降低和对紫杉醇的敏感性增加。
Related ID:
MALACARDS:PRG013
MESH:D010235
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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70
1192
3
PRG013
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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