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
46,xy Sex Reversal
Alias:
Swyer Syndrome
Pure Gonadal Dysgenesis 46,xy
Gonadal Dysgenesis, 46,xy
Gonadal Dysgenesis, Xy Female Type
46,xy Complete Gonadal Dysgenesis
46,xy Pure Gonadal Dysgenesis
Female with 46,xy Karyotype
Xy Pure Gonadal Dysgenesis
46 Xy Gonadal Dysgenesis
Xy Females
46,xy Cgd
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
46,xy性别反转,也被称为Swyer综合症,与46,xy性别反转1和46,xy性别反转11有关。与46,xy性别反转相关的基因是AR(雄激素受体),其相关通路/超通路包括信号转导和神经系统发育。附属组织包括子宫和睾丸,相关表型包括shRNA丰度增加(Z-score>2)和乳腺囊泡形成减少。
Related ID:
MALACARDS:46X082
MESH:D006061
ICD11:1844256276
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
X染色体
X显
常隐
青少年
--
24
256
2
46X082
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