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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
Warburg Micro Syndrome 1 (WARBM1)
Alias:
Warburg Micro Syndrome
Micro Syndrome
Warbm
Warbm1
Warburg Sjo Fledelius Syndrome
Warburg-Sjo-Fledelius Syndrome
Warburg Micro Syndrome, Type 1
Micro Syndrome 1
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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
Warburg微症候群1,也称为Warburg微症候群,与Warburg微症候群4和Warburg微症候群3有关。Warburg Micro Syndrome 1的一个重要基因是RAB3GAP1(RAB3 GTPase激活蛋白催化亚基1),其相关通路/超通路包括蛋白质代谢和囊泡介导的运输。相关组织包括眼睛和小脑,相关表型包括痉挛和高腭。
Related ID:
MALACARDS:WRB002
OMIM:600118
MESH:C536681
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
孩童期
--
49
266
19
WRB002
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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