Home
Toolbox
Resource
Workflow
Tutorials
Citations
Downloads
Mutation Al-Predictor Flow
Gene-to-Mutation Flow
News & Insights
Genetic Encyclopedia
Frontiers
Industry Insights
Case Studies
About Us
About the Site
Contact Us
Private Policy
User Agreement
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
Log In
|
Sign Up
中文
罕见病
Chromosome 13q14 Deletion Syndrome
Alias:
Chromosome 13q Deletion Syndrome
Chromosome 13q Deletion
Deletion 13q14
Monosomy 13q14
Del(13)(q14)
Create a favorites folder
Cancel
Confirm
Add To Favorites
Select a favorites
Description
New favorites >>
Cancel
Confirm
Favorite
基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
13q14缺失综合症,也称为13q缺失综合症,与双侧视网膜母细胞瘤和多发性骨髓瘤有关。与13q14缺失综合症相关的重要基因是DEL13Q14(13q14缺失综合症),其相关通路/超级通路包括DNA损伤和前列腺癌中的雄激素受体网络。附属组织包括眼睛和骨髓,相关表型为智力障碍和宽眼距。
Related ID:
MALACARDS:CHR492
OMIM:613884
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
新生儿
--
12
258
11
CHR492
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!
微信
信息比对
科研助手
使用教程
回到顶部