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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
Leber Congenital Amaurosis 5 (LCA5)
Alias:
Lca5
Leber Congenital Amaurosis, Type 5
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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
Leber先天性黑蒙5,也称为lca5,与Leber plus病和视网膜发育不良有关。与Leber先天性黑蒙5有关的重要基因是LCA5(Lebercilin LCA5)。附属组织包括视网膜和眼睛,相关表型为眼震和视力障碍。
Related ID:
MALACARDS:LBR015
OMIM:604537
MESH:D057130
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
2
5
12
LBR015
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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