G2Cdb::Human Disease report

Disease id
D00000132
Name
Macrothrombocytopenia (autosomal dominant)
Nervous system disease
no

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00002000 MYO5A
myosin VA (heavy chain 12, myoxin)
Y (11159552) Microinsertion (MI) Y
G00002000 MYO5A
myosin VA (heavy chain 12, myoxin)
Y (11159552) Nonsense (No) Y
G00002000 MYO5A
myosin VA (heavy chain 12, myoxin)
Y (11159552) Deletion (D) Y

References

Literature (1)

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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