G2Cdb::Human Disease report

Disease id
D00000317
Name
18q-syndrome
Nervous system disease
yes

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00001807 MBP
myelin basic protein
Y (1383862) Deletion (D) Y
G00001807 MBP
myelin basic protein
Y (1700607) Deletion (D) Y
G00001807 MBP
myelin basic protein
Y (8728701) Deletion (D) N
G00001807 MBP
myelin basic protein
Y (8767586) Deletion (D) Y
G00001807 MBP
myelin basic protein
Y (8933867) Deletion (D) ?
G00001807 MBP
myelin basic protein
Y (9259379) Deletion (D) Y
G00001807 MBP
myelin basic protein
Y (14508777) Deletion (D) Y

References

Literature (7)

Pubmed - human_disease

© 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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