G2Cdb::Human Disease report
- Disease id
- D00000209
- Name
- Myopathy (early onset distal)
- Nervous system disease
- no
Genes (1)
Gene | Name/Description | Mutations Found | Literature | Mutations Type | Genetic association? |
---|---|---|---|---|---|
G00002430 | MYH6 myosin, heavy chain 6, cardiac muscle, alpha |
Y | (15322983) | Polymorphism (P) | Y |