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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
Wilms Tumor 5 (WT5)
Alias:
Wilms Tumor
Wilms Tumor Susceptibility-5
Nephroblastoma
Wilms' Tumor
Wt5
Hereditary Susceptibility to Wilms Tumor 5
Wilms Tumor and Radial Bilateral Aplasia
Kidney, Adenomyosarcoma, Embryonal
Kidney, Carcinosarcoma, Embryonal
Wilms Tumor, Susceptibility to
Kidney, Embryonal Mixed Tumor
Embryonal Adenosarcoma
Renal Cancer, Wilms
Wilms Tumor, Type 5
Embryonal Nephroma
Kidney Wilms Tumor
Renal Adenosarcoma
Renal Wilms Tumor
Kidney, Embryoma
Tumor, Wilms
Nephroma
Wtsl
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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
Wilms Tumor 5,也被称为Wilms瘤,与上皮主导型Wilms瘤和Wagro综合症有关,其症状包括腹痛。与Wilms Tumor 5相关的基因是POU6F2(POU类6同源盒2),其相关通路/超级通路包括胚胎和诱导多能干细胞和特异性标记物和初级局灶性节段性肾小球硬化(FSGS)。在该疾病的背景下,已经提到了伊曲康唑和长春新碱。附属组织包括肾脏和T细胞,相关表型是肾母细胞瘤和胚胎。
Related ID:
MALACARDS:WLM018
OMIM:601583
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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23
241
33
WLM018
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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