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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
Mosaic Variegated Aneuploidy Syndrome 4 (MVA4)
Alias:
Mva4
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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
Mosaic Variegated Aneuploidy Syndrome 4,也被称为mva4。与Mosaic Variegated Aneuploidy Syndrome 4相关的基因是CENATAC(Centrosomal AT-AC Splicing Factor)。相关组织包括眼睛,相关表型为小头畸形和轻度全球发育迟缓。
Related ID:
MALACARDS:MSC205
OMIM:620153
MESH:D025063
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
2
1
MSC205
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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