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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
Coccidiosis
Alias:
Intestinal Coccidiosis
Enteric Coccidiosis
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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
孢子虫病,又称为肠孢子虫病,与囊孢子虫病和孢子丝菌病有关。与孢子虫病相关的重要基因是CBS(半胱氨酸β合成酶),其相关通路/超级通路包括先天免疫系统和MIF介导的皮质类固醇调节。在该疾病的背景下提到了药物泊沙康唑和伊布雷克斯芬格。附属组织包括小肠和皮肤,相关表型为合成致死与MLN4924(一种NAE抑制剂)和稳态/新陈代谢。
Related ID:
MALACARDS:CCC002
MESH:D003048
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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40
414
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CCC002
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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