G2Cdb::Human Disease report

Disease id
D00000135
Name
Griscelli syndrome
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 (9207796) Single nucleotide polymorphism (SNP) Y
G00002000 MYO5A
myosin VA (heavy chain 12, myoxin)
Y (10704277) Insertion (I) Y
G00002000 MYO5A
myosin VA (heavy chain 12, myoxin)
Y (10733681) Microinsertion (MI) N
G00002000 MYO5A
myosin VA (heavy chain 12, myoxin)
Y (12058346) No mutation found (N) N
G00002000 MYO5A
myosin VA (heavy chain 12, myoxin)
Y (12148598) Unknown (?) Y

References

Literature (5)

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).

Cookies Policy | Terms and Conditions. This site is hosted by Edinburgh University and the Genes to Cognition Programme.