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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
Nodular Malignant Melanoma
Alias:
Nodular 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
结节性恶性黑素瘤,又称结节性黑素瘤,与黑素瘤、皮肤恶性8和皮肤黑素瘤有关。与结节性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ERK信号通路和GPCR通路。在该疾病的背景下,提到了γ分泌酶抑制剂和调节剂以及2,2-二甲基-N-(6-氧代-6,7-二氢-5H-二苯并[b,d]氮杂环-7-基)-N'-(2,2,3,3,3-五氟丙基)马来酰胺。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:NDL001
ICD11:265961407
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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22
762
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NDL001
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
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Journal
Year
IF
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