Log In|Sign Up
ENSpinocerebellar Ataxia 48 (SCA48)
Alias:
Sca48
Spinocerebellar Ataxia Type 48
Favorite
Spinocerebellar Ataxia 48, also known as sca48, is related to spinocerebellar ataxia, autosomal recessive 16 and hypogonadism. An important gene associated with Spinocerebellar Ataxia 48 is STUB1 (STIP1 Homology And U-Box Containing Protein 1). Affiliated tissues include spinal cord and cerebellum, and related phenotypes are depression and ataxia
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
