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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
Acral Lentiginous Melanoma
Alias:
Acral Lentiginous Melanoma, Malignant
Malignant Acral Lentiginous Melanoma
Acral Lentiginous Malignant Melanoma
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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
掌跖黑素瘤,又称恶性掌跖黑素瘤,与甲沟炎和皮肤黑素瘤有关,症状包括斑块。与掌跖黑素瘤相关的重要基因是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ERK信号通路和信号转导。在该疾病的背景下,已提到过索拉替尼和瑞利拉布这两种药物。附属组织包括皮肤和淋巴结,相关表型为降低底物粘附细胞生长和稳态/代谢。
Related ID:
MALACARDS:ACR014
ICD11:144309462
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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18
583
--
ACR014
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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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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