Peroxisome Biogenesis Disorder 4a (PBD4A)

Alias:
Pbd4a
Peroxisome Biogenesis Disorder Complementation Group 4
Peroxisome Biogenesis Disorder Complementation Group 6
Peroxisome Biogenesis Disorder Complementation Group C
Peroxisome Biogenesis Disorder, Type 4a
Pbd-Cg4
Pbd-Cg6
Pbd-Cgc
Cg4
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
Peroxisome Biogenesis Disorder 4a,也称为pbd4a,与Peroxisome Biogenesis Disorder 4b和Cone-Rod Dystrophy 2有关。与Peroxisome Biogenesis Disorder 4a相关的关键基因是PEX6(Peroxisomal Biogenesis Factor 6)。相关组织包括肝脏和眼睛,相关表型为肝大和鼻梁下陷。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
2
8
24

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