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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
Melanoma, Uveal 1 (UVM1)
Alias:
Melanoma, Uveal, Susceptibility to, 1
Uvm1
Uveal Melanoma, Susceptibility to, 1
Melanoma, Uveal, 1
Uveal Melanoma 1
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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
黑色素瘤,眼内型1,也称为黑色素瘤,眼内型,易感性1,与黑色素瘤,眼内型2和黑色素瘤,眼内型有关。与黑色素瘤,眼内型1相关的基因是MBD4(甲基-CpG结合域4,DNA糖基酶)。附属组织包括肝脏,相关表型为眼内黑色素瘤。
Related ID:
MALACARDS:MLN039
OMIM:606660
MESH:D008545
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
1
6
6
MLN039
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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