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

References

Literature (18)

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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