G2Cdb::Human Disease report
- Disease id
- D00000217
- Name
- X-linked hydrocephalus
- Nervous system disease
- yes
Genes (1)
| Gene | Name/Description | Mutations Found | Literature | Mutations Type | Genetic association? |
|---|---|---|---|---|---|
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (1303258) | Splice site mutation (SpS) | 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 | (8069317) | Splice site mutation (SpS) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (8728703) | Deletion (D) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (8741350) | Deletion (D) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (8786080) | Deletion (D) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (8929944) | Frameshift mutation (FS) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (8929944) | Nonsense (No) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (8929944) | Microinsertion (MI) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (9088116) | Unknown (?) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (9195224) | Microinsertion (MI) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (9195224) | Nonsense (No) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (9195224) | Deletion (D) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (9195224) | Splice site mutation (SpS) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (9195224) | Frameshift mutation (FS) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (9268105) | Nonsense (No) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (9268105) | Microinsertion (MI) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (9268105) | Deletion (D) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (9279760) | Unknown (?) | ? |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (9440802) | Deletion (D) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (9452098) | Splice site mutation (SpS) | 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 | (9643285) | Single nucleotide polymorphism (SNP) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (10797421) | Nonsense (No) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (10797421) | Frameshift mutation (FS) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (10797421) | Splice site mutation (SpS) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (12435569) | Microinsertion (MI) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (12725590) | Unknown (?) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (15108295) | Single nucleotide polymorphism (SNP) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (15108295) | Deletion (D) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (15108295) | Insertion (I) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (15148591) | Splice site mutation (SpS) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (15148591) | Nonsense (No) | Y |