G2Cdb::Human Disease report
- Disease id
- D00000218
- Name
- Hydrocephalus-stenosis of the aqueduct of Sylvius
- Nervous system disease
- yes
Genes (1)
| Gene | Name/Description | Mutations Found | Literature | Mutations Type | Genetic association? |
|---|---|---|---|---|---|
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (7562969) | Unknown (?) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (8401593) | Duplication (Du) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (9744477) | Microinsertion (MI) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (9744477) | Nonsense (No) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (9744477) | Deletion (D) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (9744477) | Splice site mutation (SpS) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (17318848) | Microdeletion (MD) | Y |