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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
Situs Inversus
Alias:
Situs Inversus Totalis
Complete Situs Inversus Viscerum
Situs Inversus Viscerum
Complete Situs Inversus
Laterality Sequence
Complete Transposition
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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
反位性,又称完全内脏反位,与内脏异位和初级纤毛运动障碍有关。与反位性相关的基因是CFAP53(纤毛和鞭毛相关蛋白53),其相关通路/超级通路包括Ciliopathies和NODAL信号通路。在该疾病的背景下提到了一氧化氮和血管扩张剂药物。相关组织包括心脏和肝脏,相关表型为神经系统和生长/大小/身体区域。
Related ID:
MALACARDS:STS002
MESH:D012857
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
--
150
911
2
STS002
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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