G2Cdb::Human Disease report

Disease id
D00000216
Name
L1 syndrome
Nervous system disease
yes

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00001881 L1CAM
L1 cell adhesion molecule
Y (15662685) Unknown (?) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (15904436) Nonsense (No) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (16088863) Deletion (D) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (16650080) Microinsertion (MI) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (16816908) Microinsertion (MI) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (17328266) Nonsense (No) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (17328266) Frameshift mutation (FS) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (17328266) Splice site mutation (SpS) Y

References

Literature (6)

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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