G2Cdb::Human Disease report

Disease id
D00000218
Name
Hydrocephalus-stenosis of the aqueduct of Sylvius
Nervous system disease
yes

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00001881 L1CAM
L1 cell adhesion molecule
Y (7562969) Unknown (?) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (8401593) Duplication (Du) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (9744477) Microinsertion (MI) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (9744477) Nonsense (No) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (9744477) Deletion (D) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (9744477) Splice site mutation (SpS) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (17318848) Microdeletion (MD) Y

References

Literature (4)

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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