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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
Familial Renal Papillary Carcinoma
Alias:
Hereditary Papillary Renal Carcinoma
Papillary Renal Cancer Hereditary
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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
家族性肾乳头状癌,又称遗传性肾乳头状癌,与肾细胞癌、乳头状肾癌、遗传性癌症易感综合征有关,症状包括侧腹痛。与家族性肾乳头状癌相关的重要基因是MET(MET原癌基因、受体酪氨酸激酶),其相关通路/超级通路包括TGF-β通路和细胞对刺激的反应。附属组织包括肾脏,相关表型为死亡/衰老。
Related ID:
MALACARDS:FML029
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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14
96
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FML029
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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