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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
Body Mass Index Quantitative Trait Locus 20 (BMIQ20)
Alias:
Obesity, Resistance to
Obesity
Melanocortin 4 Receptor Deficiency
Mc4r Deficiency
Bmiq20
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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
身体质量指数定量性状位点20,也被称为肥胖症、抵抗性,与身体质量指数定量性状位点11和瘦素缺乏或功能障碍有关。与身体质量指数定量性状位点20有关的重要基因是MC4R(黑皮质素4受体)。在该疾病的背景下,提到了甲基泼尼松和吲达帕胺这两种药物。附属组织包括骨骼肌和肝脏,相关表型是肥胖症和高胰岛素血症。
Related ID:
MALACARDS:BDY021
OMIM:618406
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
1
36
35
BDY021
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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