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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 8q21.11 Deletion Syndrome
Alias:
8q21.11 Microdeletion Syndrome
Deletion 8q21.11
Monosomy 8q21.11
Del(8)(q21.11)
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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
8q21.11染色体缺失综合症,也被称为8q21.11微缺失综合症,与彼得斯综合症和肌张力低下有关。与8q21.11染色体缺失综合症相关的重要基因是DEL8Q21.11(8q21.11染色体缺失综合症),其相关通路/超级通路包括中胚层决定通路。相关表型为智力障碍和上睑下垂。
Related ID:
MALACARDS:CHR487
OMIM:614230
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
新生儿
<1/1000000
8
45
3
CHR487
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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