Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs367665974
rs367665974
L1CAM
0.700 GeneticVariation UNIPROT L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains. 26891472

2017
dbSNP: rs367665974
rs367665974
L1CAM
0.700 GeneticVariation UNIPROT Differential effects of human L1CAM mutations on complementing guidance and synaptic defects in Drosophila melanogaster. 24155914

2013
dbSNP: rs367665974
rs367665974
L1CAM
0.700 GeneticVariation UNIPROT L1CAM and its cell-surface mutants: new mechanisms and effects relevant to the physiology and pathology of neural cells. 22973895

2013
dbSNP: rs367665974
rs367665974
L1CAM
0.700 GeneticVariation UNIPROT Association of X-linked hydrocephalus and Hirschsprung disease: report of a new patient with a mutation in the L1CAM gene. 22344793

2012
dbSNP: rs367665974
rs367665974
L1CAM
0.700 GeneticVariation UNIPROT Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis. 19846429

2010
dbSNP: rs367665974
rs367665974
L1CAM
0.700 GeneticVariation UNIPROT A novel missense mutation in the L1CAM gene in a boy with L1 disease. 16816908

2006
dbSNP: rs367665974
rs367665974
L1CAM
0.700 GeneticVariation UNIPROT Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease? 11857550

2002
dbSNP: rs367665974
rs367665974
L1CAM
0.700 GeneticVariation UNIPROT Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease. 10797421

2000
dbSNP: rs367665974
rs367665974
L1CAM
0.700 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
dbSNP: rs367665974
rs367665974
L1CAM
0.700 GeneticVariation UNIPROT Evidence for somatic and germline mosaicism in CRASH syndrome. 9452110

1998
dbSNP: rs367665974
rs367665974
L1CAM
0.700 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
dbSNP: rs367665974
rs367665974
L1CAM
0.700 GeneticVariation UNIPROT Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis. 9744477

1998
dbSNP: rs367665974
rs367665974
L1CAM
0.700 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
dbSNP: rs367665974
rs367665974
L1CAM
0.700 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
dbSNP: rs367665974
rs367665974
L1CAM
0.700 GeneticVariation UNIPROT L1-associated diseases: clinical geneticists divide, molecular geneticists unite. 9300653

1997
dbSNP: rs367665974
rs367665974
L1CAM
0.700 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
dbSNP: rs367665974
rs367665974
L1CAM
0.700 GeneticVariation UNIPROT New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome. 7762552

1995
dbSNP: rs367665974
rs367665974
L1CAM
0.700 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
dbSNP: rs367665974
rs367665974
L1CAM
0.700 GeneticVariation UNIPROT MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM. 7920660

1994
dbSNP: rs367665974
rs367665974
L1CAM
0.700 GeneticVariation UNIPROT X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. 7920659

1994