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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
Large Congenital Melanocytic Nevus (GMN)
Alias:
Giant Congenital Melanocytic Nevus
Giant Pigmented Hairy Nevus
Gmn
Congenital Pigmented Nevus
Lcmn
Congenital Giant Pigmented Nevus of Skin
Melanocytic Nevus Syndrome, Congenital
Congenital Melanocytic Nevus Syndrome
Giant Congenital Melanocytic Nevi
Giant Congenital Pigmented Nevus
Gphn
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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
大型先天性黑素细胞痣,又称巨大先天性黑素细胞痣,与黑素细胞痣综合征、先天性和表皮黑素细胞痣有关。与大型先天性黑素细胞痣有关的重要基因是NRAS(NRAS原癌基因,GTP酶),其相关通路/超级通路包括ERK信号通路和催乳素信号通路。附属组织包括皮肤和脊髓,相关表型为痣和皮肤色素沉着异常。
Related ID:
MALACARDS:LRG012
MESH:C536819
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
新生儿
1-9/100000
24
450
8
LRG012
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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