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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
Traumatic Glaucoma
Alias:
Glaucoma Associated with Ocular Trauma
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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
创伤性青光眼,又称眼部外伤性青光眼,与眼内压定量性状位点和开角型青光眼有关,症状包括视力逐渐下降。与创伤性青光眼相关的重要基因是 PIGM(磷脂酰肌醇糖基锚生物合成类M)。相关组织包括眼睛和单核细胞,相关表型是shRNA丰度增加(Z-score > 2)。
Related ID:
MALACARDS:TRM002
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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8
35
--
TRM002
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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