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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
Arthrogryposis Multiplex Congenita 6 (AMC6)
Alias:
Amc6
Arthrogryposis Multiplex Congenita-6
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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
多发性先天性关节挛缩症6,也称为amc6,与短指型E2和尼曼型肌病2有关。与多发性先天性关节挛缩症6有关的重要基因是NEB(尼宾蛋白)。相关组织包括骨骼肌和睾丸,相关表型为尼曼体和胎儿运动减少。
Related ID:
MALACARDS:ART169
OMIM:619334
MESH:D001176
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
2
18
21
ART169
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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