G2Cdb::Human Disease report
- Disease id
- D00000216
- Name
- L1 syndrome
- Nervous system disease
- yes
Genes (1)
| Gene | Name/Description | Mutations Found | Literature | Mutations Type | Genetic association? |
|---|---|---|---|---|---|
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (15662685) | Unknown (?) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (15904436) | Nonsense (No) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (16088863) | Deletion (D) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (16650080) | Microinsertion (MI) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (16816908) | Microinsertion (MI) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (17328266) | Nonsense (No) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (17328266) | Frameshift mutation (FS) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (17328266) | Splice site mutation (SpS) | Y |