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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
Left Ventricular Noncompaction 8 (LVNC8)
Alias:
Cardiomyopathy, Dilated, 1ll
Lvnc8
Cardiomyopathy, Dilated, Type 1ll ; Ventricular Noncompaction, Left, Type 8
Left Ventricular Non-Compaction 8
Dilated Cardiomyopathy 1ll
Cmd1ll
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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
左心室非压缩8,也称为扩张型心肌病11,与扩张型心肌病1a有关。与左心室非压缩8相关的基因是PRDM16(PR/SET域16)。相关组织包括心脏和心室,相关表型为左心室非压缩和左心室收缩功能障碍。
Related ID:
MALACARDS:LFT017
OMIM:615373
MESH:D002311
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
1
15
4
LFT017
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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