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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
Zimmermann-Laband Syndrome 2 (ZLS2)
Alias:
Zls2
Zimmermann-Laband Syndrome, Type 2
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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
Zimmermann-Laband Syndrome 2,也被称为ZLS2。与Zimmermann-Laband Syndrome 2相关的基因是ATP6V1B2(ATPase H+ Transporting V1 Subunit B2)。相关表型为智力障碍和肌张力低下。
Related ID:
MALACARDS:ZMM003
OMIM:616455
MESH:D000015
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
1
6
3
ZMM003
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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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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