G2Cdb::Human Disease report
- Disease id
- D00000189
- Name
- Spastic paraplegia (X-linked)
- Nervous system disease
- yes
Genes (2)
Gene | Name/Description | Mutations Found | Literature | Mutations Type | Genetic association? |
---|---|---|---|---|---|
G00001881 | L1CAM L1 cell adhesion molecule |
Y | (7920659) | Deletion (D) | Y |
G00001881 | L1CAM L1 cell adhesion molecule |
Y | (7920659) | Microinsertion (MI) | Y |
G00001806 | PLP1 proteolipid protein 1 |
Y | (9489796) | Polymorphism (P) | Y |
G00001806 | PLP1 proteolipid protein 1 |
Y | (9934976) | Polymorphism (P) | Y |