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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 36 (CTRCT36)
Alias:
Ctrct36
Catc4
Autosomal Recessive Congenital Cataract 4
Cataract, Autosomal Recessive Congenital 4
Cataract, Type 36
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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36,也称为ctrct36,与眼内压定量性状位点和白内障有关。与白内障36有关的重要基因是TDRD7(Tudor域包含7),其相关通路/超通路包括Reelin通路(Cajal-Retzius细胞)。附属组织包括眼睛,相关表型为白内障。
Related ID:
MALACARDS:CTR111
OMIM:613887
MESH:D002386
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
6
23
2
CTR111
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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