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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
Sporadic Pheochromocytoma/secreting Paraganglioma
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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
散发性嗜铬细胞瘤/分泌性副神经节瘤与海绵状血管瘤和睾丸精原细胞瘤有关。与散发性嗜铬细胞瘤/分泌性副神经节瘤有关的重要基因是DNMT3A(DNA甲基转移酶3α),其相关通路/超级通路包括丙酮酸代谢和动物三羧酸循环III。相关组织包括肾上腺和甲状腺,相关表型为副神经节瘤和肾上腺外嗜铬细胞瘤。
Related ID:
MALACARDS:SPR068
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
孩童期
--
6
119
--
SPR068
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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