Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.110 GeneticVariation CLINVAR Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis. 19846429

2010
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.110 CausalMutation CLINVAR Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression. 11772994

2002
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.110 CausalMutation 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
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.110 CausalMutation 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
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.110 CausalMutation 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
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.110 CausalMutation 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
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.110 CausalMutation CLINVAR Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family. 8069317

1994