G2Cdb::Human Disease report
- Disease id
- D00000132
- Name
- Macrothrombocytopenia (autosomal dominant)
- Nervous system disease
- no
Genes (1)
| Gene | Name/Description | Mutations Found | Literature | Mutations Type | Genetic association? |
|---|---|---|---|---|---|
| G00002000 | MYO5A myosin VA (heavy chain 12, myoxin) |
Y | (11159552) | Microinsertion (MI) | Y |
| G00002000 | MYO5A myosin VA (heavy chain 12, myoxin) |
Y | (11159552) | Nonsense (No) | Y |
| G00002000 | MYO5A myosin VA (heavy chain 12, myoxin) |
Y | (11159552) | Deletion (D) | Y |