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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
Ascending Cholangitis
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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
胆管炎上行性与胆管炎和胆汁淤积有关。与胆管炎上行性相关的重要基因是GPT(谷氨酸-丙酮酸转氨酶),其相关通路/超通路包括L-丙氨酸生物合成II。相关组织包括小肠和肝脏,相关表型为消化/消化道。
Related ID:
MALACARDS:ASC003
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
--
12
89
--
ASC003
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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