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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, Cutaneous Malignant 8 (CMM8)
Alias:
Melanoma, Cutaneous Malignant, Susceptibility to, 8
Cmm8
Mitf-Related Melanoma and Renal Cell Carcinoma Predisposition Syndrome
Melanoma, Cutaneous, Malignant, Susceptibility to, Type 8
Melanoma and Renal Cell Carcinoma, Susceptibility to
Susceptibility to Melanoma and Renal Cell Carcinoma
Melanoma and Renal Cell Carcinoma
Cutaneous Malignant Melanoma 8
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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
恶性黑素瘤8,也称为恶性黑素瘤8,易感性,与结节性恶性黑素瘤和眼黑素瘤有关。与恶性黑素瘤8相关的基因是MITF(黑素细胞诱导转录因子),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。在该疾病的背景下提到了药物Aldesleukin和Nivolumab。附属组织包括皮肤和肺,相关表型为皮肤黑素瘤和色素沉着。
Related ID:
MALACARDS:MLN043
OMIM:614456
MESH:D008545
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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2
200
38
MLN043
Medical Symptom
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Categorization
Description
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Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Function
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No data available
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Name
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Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References Literature
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IF
No Data Found!
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