G2Cdb::Human Disease report

Disease id
D00000192
Name
Dystonia parkinsonism (rapid onset)
Nervous system disease
yes

Genes (3)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00001313 GRM5
glutamate receptor, metabotropic 5
Y (15254951) No mutation found (N) N
G00001323 ATP1A3
ATPase, Na+/K+ transporting, alpha 3 polypeptide
Y (17282997) Unknown (?) Y
G00001323 ATP1A3
ATPase, Na+/K+ transporting, alpha 3 polypeptide
Y (16161139) Microinsertion (MI) Y
G00001323 ATP1A3
ATPase, Na+/K+ transporting, alpha 3 polypeptide
Y (15897512) No mutation found (N) N
G00001323 ATP1A3
ATPase, Na+/K+ transporting, alpha 3 polypeptide
Y (15260953) Microinsertion (MI) Y
G00001324 ATP1A1
ATPase, Na+/K+ transporting, alpha 1 polypeptide
Y (15260953) Microinsertion (MI) Y
G00001324 ATP1A1
ATPase, Na+/K+ transporting, alpha 1 polypeptide
Y (15260948) Microinsertion (MI) Y

References

Literature (6)

Pubmed - human_disease

Pubmed - other

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EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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