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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
Chromosome 10q23 Deletion Syndrome
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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
10q23缺失综合症与青少年多发性息肉综合症和10q22.3-q23.2缺失综合症有关。与10q23缺失综合症有关的重要基因是BMPR1A(骨形态发生蛋白受体1A),其相关通路/超级通路包括乳腺癌通路和外胚层分化。相关表型为神经系统和胚胎。
Related ID:
MALACARDS:CHR490
MESH:C567385
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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12
115
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CHR490
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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