G2Cdb::Human Disease report
- Disease id
- D00000176
- Name
- MASA syndrome
- 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 | (7762552) | Unknown (?) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (7881431) | Microinsertion (MI) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (7920659) | Deletion (D) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (7920659) | Microinsertion (MI) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (7920660) | Deletion (D) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (7920660) | Single nucleotide polymorphism (SNP) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (9521424) | Splice site mutation (SpS) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (9521424) | Microinsertion (MI) | 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 |