G2Cdb::Gene report

Gene id: G00001881
Gene symbol: L1CAM (HGNC)
Species: Homo sapiens
Description: L1 cell adhesion molecule
Orthologue: G00000632 (Mus musculus)

Databases (8)
Synonyms (1)
Diseases (18)
Literature (141)
Gene lists (8)

Databases (8)

Curated Gene: OTTHUMG00000024221 (Vega human gene)
Gene: ENSG00000198910 (Ensembl human gene); 3897 (Entrez Gene); 90 (G2Cdb plasticity & disease); L1CAM (GeneCards)
Literature: 308840 (OMIM)
Marker Symbol: HGNC:6470 (HGNC)
Protein Sequence: P32004 (UniProt)

Synonyms (1)

CD171

Diseases (18)

Disease	Nervous effect	Mutations Found	Literature	Mutations Type	Genetic association?
D00000217: X-linked hydrocephalus	Y	Y	(1303258)	Splice site mutation (SpS)	Y
D00000188: Spastic paraplegia (X-linked complicated)	Y	Y	(7562969)	Unknown (?)	Y
D00000176: MASA syndrome	Y	Y	(7562969)	Unknown (?)	Y
D00000218: Hydrocephalus-stenosis of the aqueduct of Sylvius	Y	Y	(7562969)	Unknown (?)	Y
D00000217: X-linked hydrocephalus	Y	Y	(7762552)	Unknown (?)	Y
D00000176: MASA syndrome	Y	Y	(7762552)	Unknown (?)	Y
D00000217: X-linked hydrocephalus	Y	Y	(7881431)	Microinsertion (MI)	Y
D00000176: MASA syndrome	Y	Y	(7881431)	Microinsertion (MI)	Y
D00000189: Spastic paraplegia (X-linked)	Y	Y	(7920659)	Deletion (D)	Y
D00000189: Spastic paraplegia (X-linked)	Y	Y	(7920659)	Microinsertion (MI)	Y
D00000176: MASA syndrome	Y	Y	(7920659)	Deletion (D)	Y
D00000176: MASA syndrome	Y	Y	(7920659)	Microinsertion (MI)	Y
D00000176: MASA syndrome	Y	Y	(7920660)	Deletion (D)	Y
D00000176: MASA syndrome	Y	Y	(7920660)	Single nucleotide polymorphism (SNP)	Y
D00000217: X-linked hydrocephalus	Y	Y	(8069317)	Splice site mutation (SpS)	Y
D00000218: Hydrocephalus-stenosis of the aqueduct of Sylvius	Y	Y	(8401593)	Duplication (Du)	Y
D00000217: X-linked hydrocephalus	Y	Y	(8728703)	Deletion (D)	Y
D00000217: X-linked hydrocephalus	Y	Y	(8741350)	Deletion (D)	Y
D00000217: X-linked hydrocephalus	Y	Y	(8786080)	Deletion (D)	Y
D00000217: X-linked hydrocephalus	Y	Y	(8929944)	Frameshift mutation (FS)	Y
D00000217: X-linked hydrocephalus	Y	Y	(8929944)	Nonsense (No)	Y
D00000217: X-linked hydrocephalus	Y	Y	(8929944)	Microinsertion (MI)	Y
D00000217: X-linked hydrocephalus	Y	Y	(9088116)	Unknown (?)	Y
D00000217: X-linked hydrocephalus	Y	Y	(9195224)	Microinsertion (MI)	Y
D00000217: X-linked hydrocephalus	Y	Y	(9195224)	Nonsense (No)	Y
D00000217: X-linked hydrocephalus	Y	Y	(9195224)	Deletion (D)	Y
D00000217: X-linked hydrocephalus	Y	Y	(9195224)	Splice site mutation (SpS)	Y
D00000217: X-linked hydrocephalus	Y	Y	(9195224)	Frameshift mutation (FS)	Y
D00000217: X-linked hydrocephalus	Y	Y	(9268105)	Nonsense (No)	Y
D00000217: X-linked hydrocephalus	Y	Y	(9268105)	Microinsertion (MI)	Y
D00000217: X-linked hydrocephalus	Y	Y	(9268105)	Deletion (D)	Y
D00000217: X-linked hydrocephalus	Y	Y	(9279760)	Unknown (?)	?
D00000290: Hirschsprung's disease	N	Y	(9279760)	Unknown (?)	?
D00000217: X-linked hydrocephalus	Y	Y	(9440802)	Deletion (D)	Y
D00000217: X-linked hydrocephalus	Y	Y	(9452098)	Splice site mutation (SpS)	Y
D00000211: Spastic paraplegia	Y	Y	(9452098)	Splice site mutation (SpS)	Y
D00000217: X-linked hydrocephalus	Y	Y	(9521424)	Splice site mutation (SpS)	Y
D00000217: X-linked hydrocephalus	Y	Y	(9521424)	Microinsertion (MI)	Y
D00000176: MASA syndrome	Y	Y	(9521424)	Splice site mutation (SpS)	Y
D00000176: MASA syndrome	Y	Y	(9521424)	Microinsertion (MI)	Y
D00000323: CRASH syndrome	Y	Y	(9610803)	Unknown (?)	Y
D00000217: X-linked hydrocephalus	Y	Y	(9643285)	Single nucleotide polymorphism (SNP)	Y
D00000218: Hydrocephalus-stenosis of the aqueduct of Sylvius	Y	Y	(9744477)	Microinsertion (MI)	Y
D00000218: Hydrocephalus-stenosis of the aqueduct of Sylvius	Y	Y	(9744477)	Nonsense (No)	Y
D00000218: Hydrocephalus-stenosis of the aqueduct of Sylvius	Y	Y	(9744477)	Deletion (D)	Y
D00000218: Hydrocephalus-stenosis of the aqueduct of Sylvius	Y	Y	(9744477)	Splice site mutation (SpS)	Y
D00000176: MASA syndrome	Y	Y	(9744477)	Microinsertion (MI)	Y
D00000176: MASA syndrome	Y	Y	(9744477)	Nonsense (No)	Y
D00000176: MASA syndrome	Y	Y	(9744477)	Deletion (D)	Y
D00000176: MASA syndrome	Y	Y	(9744477)	Splice site mutation (SpS)	Y
D00000217: X-linked hydrocephalus	Y	Y	(10797421)	Nonsense (No)	Y
D00000217: X-linked hydrocephalus	Y	Y	(10797421)	Frameshift mutation (FS)	Y
D00000217: X-linked hydrocephalus	Y	Y	(10797421)	Splice site mutation (SpS)	Y
D00000166: Schizophrenia	Y	Y	(11425011)	Single nucleotide polymorphism (SNP)	Y
D00000215: Hydrocephalus	Y	Y	(11857550)	Single nucleotide polymorphism (SNP)	?
D00000290: Hirschsprung's disease	N	Y	(11857550)	Single nucleotide polymorphism (SNP)	?
D00000217: X-linked hydrocephalus	Y	Y	(12435569)	Microinsertion (MI)	Y
D00000217: X-linked hydrocephalus	Y	Y	(12725590)	Unknown (?)	Y
D00000217: X-linked hydrocephalus	Y	Y	(15108295)	Single nucleotide polymorphism (SNP)	Y
D00000217: X-linked hydrocephalus	Y	Y	(15108295)	Deletion (D)	Y
D00000217: X-linked hydrocephalus	Y	Y	(15108295)	Insertion (I)	Y
D00000217: X-linked hydrocephalus	Y	Y	(15148591)	Splice site mutation (SpS)	Y
D00000217: X-linked hydrocephalus	Y	Y	(15148591)	Nonsense (No)	Y
D00000290: Hirschsprung's disease	N	Y	(15148591)	Splice site mutation (SpS)	Y
D00000290: Hirschsprung's disease	N	Y	(15148591)	Nonsense (No)	Y
D00000216: L1 syndrome	Y	Y	(15662685)	Unknown (?)	Y
D00000216: L1 syndrome	Y	Y	(15904436)	Nonsense (No)	Y
D00000216: L1 syndrome	Y	Y	(16088863)	Deletion (D)	Y
D00000216: L1 syndrome	Y	Y	(16650080)	Microinsertion (MI)	Y
D00000216: L1 syndrome	Y	Y	(16816908)	Microinsertion (MI)	Y
D00000215: Hydrocephalus	Y	Y	(17294222)	Deletion (D)	Y
D00000292: Duplex kidneys	N	Y	(17294222)	Deletion (D)	Y
D00000218: Hydrocephalus-stenosis of the aqueduct of Sylvius	Y	Y	(17318848)	Microdeletion (MD)	Y
D00000271: Nephrogenic diabetes insipidus	N	Y	(17318848)	Microdeletion (MD)	Y
D00000216: L1 syndrome	Y	Y	(17328266)	Nonsense (No)	Y
D00000216: L1 syndrome	Y	Y	(17328266)	Frameshift mutation (FS)	Y
D00000216: L1 syndrome	Y	Y	(17328266)	Splice site mutation (SpS)	Y
D00000198: Epilepsy (autosomal dominant partial with auditory features)	Y	Y	(15079010)	Microinsertion (MI)	Y
D00000198: Epilepsy (autosomal dominant partial with auditory features)	Y	Y	(15079011)	Microinsertion (MI)	Y
D00000202: Epilepsy (temporal lobe)	Y	Y	(15199738)	No mutation found (N)	N
D00000207: Hereditary motor and sensory neuropathy	Y	Y	(15199738)	No mutation found (N)	N
D00000201: Epilepsy (partial with auditory features)	Y	Y	(15654555)	No mutation found (N)	N
D00000197: Epilepsy (autosomal dominant lateral temporal)	Y	Y	(17296837)	Single nucleotide polymorphism (SNP)	Y
D00000197: Epilepsy (autosomal dominant lateral temporal)	Y	Y	(17296837)	Single nucleotide polymorphism (SNP)	Y

References

Literature (141)

Pubmed - human_disease

Pubmed - other

Gene lists (8)

Gene List	Source	Species	Name	Description	Gene count
L00000009	G2C	Homo sapiens	Human PSD	Human orthologues of mouse PSD adapted from Collins et al (2006)	1080
L00000013	G2C	Homo sapiens	Human mGluR5	Human orthologues of mouse mGluR5 complex adapted from Collins et al (2006)	52
L00000015	G2C	Homo sapiens	Human NRC	Human orthologues of mouse NRC adapted from Collins et al (2006)	186
L00000016	G2C	Homo sapiens	Human PSP	Human orthologues of mouse PSP adapted from Collins et al (2006)	1121
L00000059	G2C	Homo sapiens	BAYES-COLLINS-HUMAN-PSD-CONSENSUS	Human cortex PSD consensus	748
L00000061	G2C	Homo sapiens	BAYES-COLLINS-MOUSE-PSD-CONSENSUS	Mouse cortex PSD consensus (ortho)	984
L00000069	G2C	Homo sapiens	BAYES-COLLINS-HUMAN-PSD-FULL	Human cortex biopsy PSD full list	1461
L00000071	G2C	Homo sapiens	BAYES-COLLINS-MOUSE-PSD-FULL	Mouse cortex PSD full list (ortho)	1556