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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
Keratoconus 9 (KTCN9)
Alias:
Ktcn9
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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
角膜扩张症9,也被称为 ktcn9。与角膜扩张症9相关的基因是 TUBA3D(微管α3d),其相关通路/超通路包括细胞周期、有丝分裂和有丝分裂中心体中Nlp的丢失。相关表型为视力减退和角膜扩张症。
Related ID:
MALACARDS:KRT075
OMIM:617928
MESH:D007640
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
2
12
1
KRT075
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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