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

References

Literature (24)

Pubmed - human_disease

Pubmed - other

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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