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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 21, Multiple Types (CTRCT21)
Alias:
Cataract 21 Multiple Types
Ctrct21
Cca4
Cataract 21, Multiple Types, with or Without Microcornea
Cataract, Pulverulent, Juvenile-Onset
Congenital Cataract Cerulean Type 4
Cataract, Pulverulent or Cerulean, with or Without Microcornea
Cataract 21 Multiple Types with or Without Microcornea
Cataract, Congenital, Cerulean Type, 4
Cataract Pulverulent Juvenile-Onset
Congenital Cataract Blue Dot Type 4
Cataract, Type 21, 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21型,多态性,也被称为白内障21型多态性。与白内障21型,多态性相关的基因是MAF(MAF bZIP转录因子)。相关组织包括眼睛,相关表型包括视网膜脱离和黄斑发育不良。
Related ID:
MALACARDS:CTR141
OMIM:610202
MESH:D002386
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
5
33
11
CTR141
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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