G2Cdb::Human Disease report
- Disease id
- D00000236
- Name
- Hypertrophic cardiomyopathy (familial)
- Nervous system disease
- no
Genes (2)
| Gene | Name/Description | Mutations Found | Literature | Mutations Type | Genetic association? |
|---|---|---|---|---|---|
| G00002000 | MYO5A myosin VA (heavy chain 12, myoxin) |
Y | (7796500) | Microinsertion (MI) | Y |
| G00002000 | MYO5A myosin VA (heavy chain 12, myoxin) |
Y | (7796500) | Nonsense (No) | Y |
| G00002000 | MYO5A myosin VA (heavy chain 12, myoxin) |
Y | (7848441) | Microinsertion (MI) | Y |
| G00002000 | MYO5A myosin VA (heavy chain 12, myoxin) |
Y | (7959583) | Microinsertion (MI) | N |
| G00002000 | MYO5A myosin VA (heavy chain 12, myoxin) |
Y | (8254035) | Microinsertion (MI) | Y |
| G00002000 | MYO5A myosin VA (heavy chain 12, myoxin) |
Y | (8282798) | Microinsertion (MI) | Y |
| G00002000 | MYO5A myosin VA (heavy chain 12, myoxin) |
Y | (8343162) | Single nucleotide polymorphism (SNP) | Y |
| G00002000 | MYO5A myosin VA (heavy chain 12, myoxin) |
Y | (8655135) | Microinsertion (MI) | Y |
| G00002000 | MYO5A myosin VA (heavy chain 12, myoxin) |
Y | (8825881) | Deletion (D) | Y |
| G00002000 | MYO5A myosin VA (heavy chain 12, myoxin) |
Y | (8944596) | Insertion/deletion (I/D) | Y |
| G00002000 | MYO5A myosin VA (heavy chain 12, myoxin) |
Y | (9822100) | Microinsertion (MI) | N |
| G00002000 | MYO5A myosin VA (heavy chain 12, myoxin) |
Y | (9829907) | Deletion (D) | Y |
| G00002000 | MYO5A myosin VA (heavy chain 12, myoxin) |
Y | (9829907) | Microinsertion (MI) | Y |
| G00002000 | MYO5A myosin VA (heavy chain 12, myoxin) |
Y | (10374350) | Repeat polymorphism (RP) | Y |
| G00002000 | MYO5A myosin VA (heavy chain 12, myoxin) |
Y | (10521296) | Microinsertion (MI) | Y |
| G00002000 | MYO5A myosin VA (heavy chain 12, myoxin) |
Y | (11133230) | Microinsertion (MI) | Y |
| G00002430 | MYH6 myosin, heavy chain 6, cardiac muscle, alpha |
Y | (15483641) | Polymorphism (P) | Y |
| G00002430 | MYH6 myosin, heavy chain 6, cardiac muscle, alpha |
Y | (15528230) | Polymorphism (P) | Y |
| G00002430 | MYH6 myosin, heavy chain 6, cardiac muscle, alpha |
Y | (15858117) | Microinsertion (MI) | Y |
| G00002430 | MYH6 myosin, heavy chain 6, cardiac muscle, alpha |
Y | (17081393) | No mutation found (N) | N |