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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
罕见病
Monogenic Diabetes
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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
单基因糖尿病与孤立性永久性新生儿糖尿病和高胰岛素性低血糖症、家族性1型有关。与单基因糖尿病有关的重要基因是GCK(葡萄糖激酶),其相关通路/超级通路包括神经系统发育和葡萄糖/能量代谢。在该疾病的背景下提到了二甲双胍和谷氨酸。附属组织包括肾脏和肝脏,相关表型为自由胆固醇增加和稳态/代谢。
Related ID:
MALACARDS:MNG006
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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15
261
162
MNG006
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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