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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
Gallbladder Melanoma
Alias:
Malignant Melanoma of Gallbladder
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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
胆囊黑素瘤,又称胆囊恶性黑素瘤,与黑素瘤和青少年黄斑样增生有关。与胆囊黑素瘤相关的重要基因是PMEL(前黑素细胞蛋白),其相关通路/超级通路包括在黑素细胞和视网膜色素上皮细胞中的GPR143。在该疾病的背景下,已经提到了Nivolumab和免疫检查点抑制剂。相关的表型是色素沉着和皮肤
Related ID:
MALACARDS:GLL012
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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5
96
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GLL012
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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