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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 23, Multiple Types (CTRCT23)
Alias:
Cataract 23
Ctrct23
Lamellar Cataract 23
Cataract 23, Multiple Types, with or Without Microcornea
Microphthalmia, Isolated, with Cataract 4
Isolated Microphthalmia with Cataract 4
Cataract, Type 23
Mcopct4
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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23型,多型,又名白内障23型,与遗传性异常血红蛋白尿症和补体基因异常相关。与白内障23型,多型相关的基因是CRYBA4(晶状体βA4),其相关通路/超级通路包括滑膜成纤维细胞的凋亡通路和信号转导。附属组织包括皮质和眼睛,相关表型为板层状白内障和神经系统。
Related ID:
MALACARDS:CTR182
OMIM:610425
MESH:D002386
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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14
193
3
CTR182
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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