G2Cdb::Human Disease report

Disease id
D00000217
Name
X-linked hydrocephalus
Nervous system disease
yes

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00001881 L1CAM
L1 cell adhesion molecule
Y (1303258) Splice site mutation (SpS) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (7762552) Unknown (?) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (7881431) Microinsertion (MI) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (8069317) Splice site mutation (SpS) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (8728703) Deletion (D) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (8741350) Deletion (D) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (8786080) Deletion (D) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (8929944) Frameshift mutation (FS) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (8929944) Nonsense (No) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (8929944) Microinsertion (MI) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (9088116) Unknown (?) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (9195224) Microinsertion (MI) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (9195224) Nonsense (No) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (9195224) Deletion (D) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (9195224) Splice site mutation (SpS) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (9195224) Frameshift mutation (FS) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (9268105) Nonsense (No) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (9268105) Microinsertion (MI) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (9268105) Deletion (D) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (9279760) Unknown (?) ?
G00001881 L1CAM
L1 cell adhesion molecule
Y (9440802) Deletion (D) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (9452098) Splice site mutation (SpS) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (9521424) Splice site mutation (SpS) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (9521424) Microinsertion (MI) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (9643285) Single nucleotide polymorphism (SNP) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (10797421) Nonsense (No) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (10797421) Frameshift mutation (FS) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (10797421) Splice site mutation (SpS) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (12435569) Microinsertion (MI) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (12725590) Unknown (?) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (15108295) Single nucleotide polymorphism (SNP) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (15108295) Deletion (D) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (15108295) Insertion (I) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (15148591) Splice site mutation (SpS) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (15148591) Nonsense (No) Y

References

Literature (21)

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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