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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
Melanoma in Congenital Melanocytic Nevus
Alias:
Malignant Melanoma in Congenital Melanocytic Nevus
Melanocytic Nevi
Nevi Melanocytic
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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
先天性黑素细胞痣中的恶性黑素瘤,又称先天性黑素细胞痣中的恶性黑素瘤,与黑素细胞痣综合征、先天性和色素沉着斑有关。与先天性黑素细胞痣中的恶性黑素瘤有关的重要基因是BRAF(B-Raf原癌基因,丝氨酸/苏氨酸激酶),其相关通路/超级通路包括β肾上腺素能信号通路和MAPK-Erk通路。在该疾病的背景下,已提到的药物有乙醇和二丁基二甲酸酯。附属组织包括皮肤和淋巴结,相关表型为稳态/代谢和正常。
Related ID:
MALACARDS:MLN079
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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27
802
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MLN079
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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