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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
Cataract 46, Juvenile-Onset, with or Without Arrhythmic Cardiomyopathy (CTRCT46)
Alias:
Cataract 46 Juvenile-Onset
Ctrct46
Cataract, Juvenile, Hutterite Type
Cataract Hutterite Type
Juvenilae Cataract Hutterite Type
Cataract, Type 46, Juvenile-Onset
Cataract 46, Juvenile-Onset
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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46型,青少年型,伴有或不伴有心律失常,也称为白内障46型青少年型,与白内障胡特尔型有关。与白内障46型,青少年型,伴有或不伴有心律失常相关的基因是LEM D2(LEM域核膜蛋白2)。相关组织包括眼睛和心脏,相关表型为青少年白内障和心律失常。
Related ID:
MALACARDS:CTR188
OMIM:212500
MESH:D002386
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
1
11
10
CTR188
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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