G2Cdb::Human Disease report
- Disease id
- D00000185
- Name
- Cerebellar ataxia (autosomal dominant)
- Nervous system disease
- yes
Genes (1)
Gene | Name/Description | Mutations Found | Literature | Mutations Type | Genetic association? |
---|---|---|---|---|---|
G00002481 | PRKCG protein kinase C, gamma |
Y | (14694043) | Single nucleotide polymorphism (SNP) | Y |
G00002481 | PRKCG protein kinase C, gamma |
Y | (16547918) | Microinsertion (MI) | Y |