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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
Partial Trisomy Distal 4q
Alias:
Chromosome 4, Partial Trisomy 4q
Duplication 4q Syndrome, Partial
Partial Trisomy 4q Syndrome
Dup Syndrome, Partial
Distal 4q Trisomy
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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
部分4q三体,也称为4号染色体,部分4q三体,与心脏室间隔缺损和心房室间隔缺损有关。与部分4q三体相关的基因是RIMS4(调节突触膜外分泌4)。附属组织包括心脏和肝脏,相关表型是shRNA丰度增加(Z-score>2)和正常。
Related ID:
MALACARDS:PRT131
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
胎儿期
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6
60
--
PRT131
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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