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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 1 (CMM1)
Alias:
Familial Melanoma
Melanoma, Cutaneous Malignant, Susceptibility to, 1
Familial Atypical Mole-Malignant Melanoma Syndrome
Melanoma, Familial
Melanoma, Cutaneous, Malignant, Susceptibility to, Type 1
Familial Atypical Mole Melanoma Syndrome
Dysplastic Nevus Syndrome, Hereditary
Melanoma, Cutaneous Malignant, 1
Melanoma, Cutaneous Malignant
Malignant Melanoma, Cutaneous
Dysplastic Nevus Syndrome
Melanoma, Malignant
Hereditary Melanoma
Cutaneous Melanoma
B-K Mole Syndrome
Fammm
Cmm1
Cmm
Mlm
Dns
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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1,也称为家族性黑素瘤,与恶性黑素瘤9和皮肤黑素瘤有关。与恶性黑素瘤1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/超级通路包括细胞周期、有丝分裂和子宫内膜癌。在该疾病的背景下提到了BCG疫苗和美法仑。附属组织包括皮肤和淋巴结,相关表型为痣和黑素瘤。
Related ID:
MALACARDS:MLN066
OMIM:155600
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
成年期
1-9/100000
101
1902
315
MLN066
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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