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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
Cataract 31, Multiple Types (CTRCT31)
Alias:
Cataract, Posterior Polar, 3
Cataract 31 Multiple Types
Ctrct31
Ctpp3
Posterior Polar Cataract 3
Cpp3
Cataract, Type 31, Multiple Types
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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
白内障31型,多型,也称为白内障,后极,3,与早期缝线性白内障和白内障28有关。与白内障31型,多型相关的重要的基因是CHMP4B(充电多囊体蛋白4B)。附属组织包括眼睛和B细胞,相关表型为后极性白内障和前极性白内障。
Related ID:
MALACARDS:CTR129
OMIM:605387
MESH:D002386
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
8
46
3
CTR129
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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