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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 19, Multiple Types (CTRCT19)
Alias:
Cataract 19 Multiple Types
Ctrct19
Cataract, Multiple Types 19
Cataract, Type 19
Cataract 19
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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19型,多型,也称为白内障19型多型,症状包括眩光 - 眼症状。与白内障19型,多型相关的基因包括LIM2(晶状体内在膜蛋白2)。附属组织包括眼睛,相关表型为眼震和弱视。
Related ID:
MALACARDS:CTR165
OMIM:615277
MESH:D002386
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
1
6
7
CTR165
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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