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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
Corneal Disease
Alias:
Corneal Diseases
Corneal Disorders
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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
角膜疾病,又称角膜疾病,与颗粒状角膜营养不良和角膜炎有关,具有遗传性,症状包括眼部表现。与角膜疾病相关的重要基因是TGFBI(转化生长因子β诱导),其相关通路/超通路包括肥大模型。在该疾病的背景下提到了Lifitegrast和Riboflavin药物。附属组织包括眼睛和内皮,相关表型为稳态/代谢和骨骼
Related ID:
MALACARDS:CRN024
MESH:D003316
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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60
672
3
CRN024
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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