Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		1.000 GeneticVariation UNIPROT We combined clinical data, in silico effect predictions and functional analysis of four L1CAM variants, p.I37N, p.T38M, p.M172I and p.D202Y, located to the two N-terminal Ig-like domains present in five families with symptoms of L1 syndrome. 26891472

2017
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		1.000 GeneticVariation UNIPROT Differential effects of human L1CAM mutations on complementing guidance and synaptic defects in Drosophila melanogaster. 24155914

2013
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		1.000 GeneticVariation UNIPROT The variable effects observed with the different L1CAM mutants suggest that this function contributes to the marked heterogeneity of symptoms and severity observed in the patients affected by the L1 syndrome. 22973895

2013
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		1.000 GeneticVariation UNIPROT Association of X-linked hydrocephalus and Hirschsprung disease: report of a new patient with a mutation in the L1CAM gene. 22344793

2012
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		1.000 GeneticVariation UNIPROT To develop a comprehensive mutation analysis system with a high rate of detection, to develop a tool to predict the chance of detecting a mutation in the L1CAM gene, and to look for genotype-phenotype correlations in the X-linked recessive disorder, L1 syndrome. 19846429

2010
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		1.000 Biomarker CLINGEN To develop a comprehensive mutation analysis system with a high rate of detection, to develop a tool to predict the chance of detecting a mutation in the L1CAM gene, and to look for genotype-phenotype correlations in the X-linked recessive disorder, L1 syndrome. 19846429

2010
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		1.000 Biomarker CLINGEN A modifier locus on chromosome 5 contributes to L1 cell adhesion molecule X-linked hydrocephalus in mice. 19565280

2010
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		1.000 GeneticVariation UNIPROT A novel missense mutation in the L1CAM gene in a boy with L1 disease. 16816908

2006
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		1.000 GeneticVariation UNIPROT Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease? 11857550

2002
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		1.000 Biomarker GENOMICS_ENGLAND 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: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		1.000 GeneticVariation UNIPROT Novel missense mutation in the L1 gene in a child with corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus. 10805190

2000
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		1.000 GeneticVariation UNIPROT 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: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		1.000 GeneticVariation UNIPROT The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus. 9832035

1998
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		1.000 GeneticVariation UNIPROT Evidence for somatic and germline mosaicism in CRASH syndrome. 9452110

1998
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		1.000 GeneticVariation UNIPROT Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis. 9744477

1998
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		1.000 GeneticVariation UNIPROT Multiple exon screening using restriction endonuclease fingerprinting (REF): detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene. 9521424

1998
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		1.000 GeneticVariation UNIPROT Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the trait. 9268105

1997
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		1.000 GeneticVariation UNIPROT L1-associated diseases: clinical geneticists divide, molecular geneticists unite. 9300653

1997
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		1.000 GeneticVariation UNIPROT New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome. 7762552

1995
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		1.000 Biomarker GENOMICS_ENGLAND Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS. 7562969

1995
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		1.000 GeneticVariation UNIPROT CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1. 8556302

1995
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		1.000 GeneticVariation UNIPROT Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS. 7562969

1995
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		1.000 Biomarker CLINGEN Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS. 7562969

1995
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		1.000 GeneticVariation UNIPROT X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene. 7881431

1994
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0795953
Disease: MASA SYNDROME (disorder)
MASA SYNDROME (disorder) 		1.000 Biomarker CTD_human Here we report mutations of the L1 gene in MASA syndrome and SPG1, in addition to HSAS families. 7920659

1994