G2Cdb::Human Disease report
- Disease id
- D00000290
- Name
- Hirschsprung's disease
- Nervous system disease
- no
Genes (1)
| Gene | Name/Description | Mutations Found | Literature | Mutations Type | Genetic association? |
|---|---|---|---|---|---|
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (9279760) | Unknown (?) | ? |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (11857550) | Single nucleotide polymorphism (SNP) | ? |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (15148591) | Splice site mutation (SpS) | Y |
| G00001881 | L1CAM L1 cell adhesion molecule |
Y | (15148591) | Nonsense (No) | Y |