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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
Choledocholithiasis
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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
胆道结石与胆结石和胆囊结石有关。与胆道结石有关的重要基因是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。在该疾病的背景下提到了依他尼酸和熊去氧胆酸。附属组织包括肝脏和胰腺,相关表型为稳态/新陈代谢。
Related ID:
MALACARDS:CHL039
MESH:D042883
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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17
103
--
CHL039
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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