G2Cdb::Human Disease report
- Disease id
- D00000235
- Name
- Hypertrophic cardiomyopathy
- Nervous system disease
- no
Genes (3)
| Gene | Name/Description | Mutations Found | Literature | Mutations Type | Genetic association? |
|---|---|---|---|---|---|
| G00002000 | MYO5A myosin VA (heavy chain 12, myoxin) |
Y | (1361491) | Deletion (D) | Y |
| G00002430 | MYH6 myosin, heavy chain 6, cardiac muscle, alpha |
Y | (15010274) | Polymorphism (P) | Y |
| G00002430 | MYH6 myosin, heavy chain 6, cardiac muscle, alpha |
Y | (15358028) | Microinsertion (MI) | Y |
| G00002430 | MYH6 myosin, heavy chain 6, cardiac muscle, alpha |
Y | (15358028) | Deletion (D) | Y |
| G00002430 | MYH6 myosin, heavy chain 6, cardiac muscle, alpha |
Y | (15563892) | Polymorphism (P) | Y |
| G00002430 | MYH6 myosin, heavy chain 6, cardiac muscle, alpha |
Y | (15569455) | Unknown (?) | Y |
| G00002430 | MYH6 myosin, heavy chain 6, cardiac muscle, alpha |
Y | (15706574) | Single nucleotide polymorphism (SNP) | Y |
| G00002430 | MYH6 myosin, heavy chain 6, cardiac muscle, alpha |
Y | (15769782) | Microinsertion (MI) | Y |
| G00002430 | MYH6 myosin, heavy chain 6, cardiac muscle, alpha |
Y | (15819282) | Unknown (?) | Y |
| G00002430 | MYH6 myosin, heavy chain 6, cardiac muscle, alpha |
Y | (15856146) | Microinsertion (MI) | Y |
| G00002430 | MYH6 myosin, heavy chain 6, cardiac muscle, alpha |
Y | (15940186) | Polymorphism (P) | Y |
| G00002430 | MYH6 myosin, heavy chain 6, cardiac muscle, alpha |
Y | (16137545) | Single nucleotide polymorphism (SNP) | Y |
| G00002430 | MYH6 myosin, heavy chain 6, cardiac muscle, alpha |
Y | (16504640) | Polymorphism (P) | Y |
| G00002430 | MYH6 myosin, heavy chain 6, cardiac muscle, alpha |
Y | (16630449) | Single nucleotide polymorphism (SNP) | Y |
| G00002430 | MYH6 myosin, heavy chain 6, cardiac muscle, alpha |
Y | (16650083) | Microinsertion (MI) | Y |
| G00002430 | MYH6 myosin, heavy chain 6, cardiac muscle, alpha |
Y | (16858239) | Microinsertion (MI) | Y |
| G00002430 | MYH6 myosin, heavy chain 6, cardiac muscle, alpha |
Y | (16938236) | Single nucleotide polymorphism (SNP) | Y |
| G00002430 | MYH6 myosin, heavy chain 6, cardiac muscle, alpha |
Y | (17097032) | Single nucleotide polymorphism (SNP) | Y |
| G00002430 | MYH6 myosin, heavy chain 6, cardiac muscle, alpha |
Y | (17125710) | Single nucleotide polymorphism (SNP) | Y |
| G00002430 | MYH6 myosin, heavy chain 6, cardiac muscle, alpha |
Y | (17288815) | Single nucleotide polymorphism (SNP) | Y |
| G00002430 | MYH6 myosin, heavy chain 6, cardiac muscle, alpha |
Y | (17288815) | Microinsertion (MI) | Y |
| G00002430 | MYH6 myosin, heavy chain 6, cardiac muscle, alpha |
Y | (17347475) | No mutation found (N) | N |
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (14991917) | Single nucleotide polymorphism (SNP) | Y |
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (15578621) | Polymorphism (P) | N |
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (15889278) | Microinsertion (MI) | Y |
| G00001453 | PTPN11 protein tyrosine phosphatase, non-receptor type 11 |
Y | (16488201) | No mutation found (N) | N |