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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
Glaucoma, Normal Tension (NPG)
Alias:
Low Tension Glaucoma
Glaucoma, Normal Tension, Susceptibility to
Normal Tension Glaucoma
Glaucoma, Normal Pressure
Ntg
Npg
Poag/npg - [normal Pressure Primary Open-Angle Glaucoma]
Glaucoma, Normal Pressure, Susceptibility to
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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
青光眼,正常眼压,又称低眼压青光眼,与眼压升高和角膜炎有关,具有遗传性,症状包括视力逐渐下降。与青光眼,正常眼压相关的基因是OPA1(OPA1线粒体动力蛋白样GTP酶),其相关通路/超级通路包括肌萎缩侧索硬化症的发病机制。在该疾病的背景下提到了药物Timolol和Travoprost。相关组织包括眼睛和视网膜,相关表型为神经系统和稳态/代谢。
Related ID:
MALACARDS:GLC084
OMIM:606657
MESH:D005901
ICD11:361179921
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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37
319
10
GLC084
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
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IF
No Data Found!
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