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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
Waardenburg Syndrome, Type 2c (WS2C)
Alias:
Waardenburg Syndrome Type 2c
Ws2c
Waardenburg Syndrome, Type Iic
Waardenburg Syndrome Type Iic
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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
瓦登伯格综合症2c型,又称瓦登伯格综合症2c型,与瓦登伯格综合症和脊髓黑素瘤有关。与瓦登伯格综合症2c型相关的基因是WS2C(瓦登伯格综合症2c型),其相关通路/超级通路包括前列腺素合成和调节以及神经嵴分化。相关组织包括眼睛和皮肤,相关表型包括色素沉着和四肢/手指/尾巴
Related ID:
MALACARDS:WRD026
OMIM:606662
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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7
189
1
WRD026
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
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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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