Angelman Syndrome Due to a Point Mutation
Basic Information
Medical Symptom
Gene & Mutation
Drugs
Disease Model
References
Angelman Syndrome Due to a Point Mutation An important gene associated with Angelman Syndrome Due to a Point Mutation is UBE3A (Ubiquitin Protein Ligase E3A). Affiliated tissues include tongue and skin, and related phenotypes are seizure and eeg abnormality
Related ID:
Basic Information
Inheritance
Age Of Onset
Prevalence
Related Gene
Related Models
Reference
MALACARDS
--
Infant
--
1
15
--
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
Gene
Function
Score
Count
No data available
Drugs
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References
Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Back to top