G2Cdb::Human Disease report
- Disease id
- D00000122
- Name
- Pyruvate kinase deficiency
- Nervous system disease
- no
Genes (1)
| Gene | Name/Description | Mutations Found | Literature | Mutations Type | Genetic association? |
|---|---|---|---|---|---|
| G00002481 | PRKCG protein kinase C, gamma |
Y | (15870493) | Unknown (?) | Y |