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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
Corneal Dystrophy, Band-Shaped
Alias:
Band Keratopathy
Band-Shaped Keratopathy
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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
角膜病,带状,又称带状角膜病,与范可尼综合症和角膜水肿有关。与带状角膜病相关的基因是SLC4A4(溶质载体家族4成员4),其相关通路/超级通路包括无机离子/阴离子和氨基酸/寡肽的运输以及近端肾小管运输。在该疾病的背景下提到了眼科溶液和制药溶液。相关组织包括眼睛和内皮,相关表型为带状角膜病和稳态/代谢。
Related ID:
MALACARDS:CRN288
OMIM:217500
MESH:C562399
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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17
132
--
CRN288
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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