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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
Intraocular Pressure Quantitative Trait Locus (IOPQTL)
Alias:
Glaucoma
Glaucoma Associated with Ocular Trauma
Glaucoma Secondary to Eye Inflammation
Glaucoma with Ocular Inflammation
Glaucoma with Concussion of Globe
Glaucoma Due to Ocular Trauma
Glaucoma, Susceptibility to
Glaucoma Secondary to Drugs
Postinfectious Glaucoma
Traumatic Glaucoma
Iopqtl
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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
眼内压数量性状位点,也被称为青光眼,与青光眼3型、先天性青光眼a型和闭角型青光眼有关。与眼内压数量性状位点相关的重要基因是ZEB1(锌指E-盒结合同源盒1),其相关通路/超级通路包括透明细胞肾细胞癌通路和弹性纤维形成。在该疾病的背景下,已经提到了布洛芬和托吡酯这两种药物。相关组织包括眼睛和骨髓,相关表型包括稳态/代谢和神经系统。
Related ID:
MALACARDS:INT323
OMIM:611522
MESH:D005901
ICD11:1127568996
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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62
774
4
INT323
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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