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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 Dystrophy, Endothelial, X-Linked (XECD)
Alias:
X-Linked Endothelial Corneal Dystrophy
Xecd
Endothelial Corneal Dystrophy, X-Linked
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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
角膜内皮X连锁遗传性 dystrophy,又名X连锁角膜内皮遗传性 dystrophy,与角膜 dystrophy 和带状角膜 dystrophy 有关。与角膜内皮X连锁遗传性 dystrophy 相关的重要基因是 XECD (角膜内皮X连锁遗传性 dystrophy),其相关通路/超通路包括基因表达(转录)和先天性免疫系统。相关组织包括内皮和眼睛,相关表型为角膜混浊和视力减退。
Related ID:
MALACARDS:CRN128
OMIM:300779
MESH:C567587
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X显
X染色体
X隐
新生儿
<1/1000000
8
18
1
CRN128
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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