Gene: L1CAM ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM 		0.110 GeneticVariation disease CLINVAR Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis. 19846429 2010
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM 		0.110 CausalMutation disease CLINVAR Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression. 11772994 2002
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM 		0.110 CausalMutation disease CLINVAR Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene. 11438988 2001
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM 		0.110 CausalMutation disease CLINVAR Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease. 10797421 2000
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM 		0.110 CausalMutation disease CLINVAR Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities. 10469653 1999
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM 		0.110 Biomarker disease BEFREE MASA syndrome (mental retardation, aphasia, shuffling gait and adducted thumbs) and SPG1 (X-linked complicated spastic paraplegia) are also X-linked disorders with overlapping clinical signs. 8786080 1996
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM 		0.110 CausalMutation disease CLINVAR X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. 7920659 1994
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM 		0.110 CausalMutation disease CLINVAR Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family. 8069317 1994
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM 		0.110 Biomarker disease HPO