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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
Short Sleep, Familial Natural, 2 (FNSS2)
Alias:
Sleep, Short, Natural, Familial, Type 2
Fnss2
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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
短睡眠,家族性自然型2,也被称为短睡眠,家族性自然型2。与短睡眠,家族性自然型2有关的重要基因是ADRB1(肾上腺素能受体β1)。
Related ID:
MALACARDS:SHR122
OMIM:618591
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
1
6
1
SHR122
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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