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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
Renal Medullary Carcinoma (BDC)
Alias:
Collecting Duct Carcinoma
Kidney Medullary Carcinoma
Bellini Duct Carcinoma
Bellini Carcinoma
Bdc
Cdc
Collecting Duct Carcinoma of the Kidney
Renal Carcinoma, Collecting Duct Type
Carcinoma of Renal Collecting Duct
Medullary Carcinoma of the Kidney
Medullary Renal Cell Carcinoma
Rmc
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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
肾髓质癌,又称集合管癌,与肉瘤样肾细胞癌和乳头状囊腺癌有关,症状包括侧腹痛。与肾髓质癌相关的重要基因是XIST(X特异性转录),其相关通路/超级通路包括葡萄糖/能量代谢和2型乳头状肾细胞癌。在该疾病的背景下,贝伐单抗和氟达拉滨已被提及。附属组织包括肾脏和骨骼,相关表型为死亡/衰老。
Related ID:
MALACARDS:RNL136
MESH:D002292
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
<1/1000000
19
129
--
RNL136
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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