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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
Chromosome 15q24 Deletion Syndrome
Alias:
15q24 Microdeletion Syndrome
15q24 Microdeletion
Monosomy 15q24
Del(15)(q24)
Interstitial Deletion of Chromosome 15q24
15q24 Deletion
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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
15q24缺失综合症,也被称为15q24微缺失综合症,与witteveen-kolk综合症和低张力有关。与15q24缺失综合症相关的一个重要基因是SIN3A(SIN3转录调节家族成员A)。相关组织包括心脏,相关表型为全球发育延迟和智力障碍
Related ID:
MALACARDS:CHR391
MESH:C579849
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
孩童期
<1/1000000
12
63
2
CHR391
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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