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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 7 (LCA7)
Alias:
Lca7
Leber Congenital Amaurosis, Type 7
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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7,也称为lca7,与Leber plus病和慢性间质性膀胱炎有关。与Leber先天性黑蒙7有关的重要基因是CRX(锥-棒盒),其相关通路/超级通路包括Bardet-Biedl综合征和视网膜棒状体的视觉循环。附属组织包括视网膜和眼睛,相关表型包括眼震和视力障碍。
Related ID:
MALACARDS:LBR017
OMIM:613829
MESH:D057130
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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7
44
53
LBR017
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
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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
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IF
No Data Found!
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