G2Cdb::Human Disease report
- Disease id
- D00000285
- Name
- Atrioventricular septal defect
- Nervous system disease
- no
Genes (1)
| Gene | Name/Description | Mutations Found | Literature | Mutations Type | Genetic association? |
|---|---|---|---|---|---|
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (15940693) | Microinsertion (MI) | ? |