L1CAM, L1 cell adhesion molecule, 3897

N. diseases: 289; N. variants: 35
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852521
rs137852521
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0265216
Disease:
X-linked hydrocephalus syndrome 		0.810 GeneticVariation UNIPROT Differential effects of human L1CAM mutations on complementing guidance and synaptic defects in Drosophila melanogaster. 24155914 2013
dbSNP: rs137852521
rs137852521
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0265216
Disease:
X-linked hydrocephalus syndrome 		0.810 GeneticVariation UNIPROT L1CAM and its cell-surface mutants: new mechanisms and effects relevant to the physiology and pathology of neural cells. 22973895 2013
dbSNP: rs137852521
rs137852521
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0265216
Disease:
X-linked hydrocephalus syndrome 		0.810 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: rs137852521
rs137852521
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0265216
Disease:
X-linked hydrocephalus syndrome 		0.810 GeneticVariation UNIPROT Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis. 19846429 2010
dbSNP: rs137852521
rs137852521
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0265216
Disease:
X-linked hydrocephalus syndrome 		0.810 GeneticVariation UNIPROT L1 syndrome mutations impair neuronal L1 function at different levels by divergent mechanisms. 20621658 2010
dbSNP: rs137852521
rs137852521
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0265216
Disease:
X-linked hydrocephalus syndrome 		0.810 GeneticVariation UNIPROT X-linked hydrocephalus: a novel missense mutation in the L1CAM gene. 12435569 2002
dbSNP: rs137852521
rs137852521
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0265216
Disease:
X-linked hydrocephalus syndrome 		0.810 GeneticVariation UNIPROT Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease? 11857550 2002
dbSNP: rs137852521
rs137852521
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0265216
Disease:
X-linked hydrocephalus syndrome 		0.810 GeneticVariation UNIPROT Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease. 10797421 2000
dbSNP: rs137852521
rs137852521
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0265216
Disease:
X-linked hydrocephalus syndrome 		0.810 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: rs137852521
rs137852521
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0265216
Disease:
X-linked hydrocephalus syndrome 		0.810 GeneticVariation UNIPROT Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis. 9744477 1998
dbSNP: rs137852521
rs137852521
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0265216
Disease:
X-linked hydrocephalus syndrome 		0.810 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: rs137852521
rs137852521
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0265216
Disease:
X-linked hydrocephalus syndrome 		0.810 GeneticVariation UNIPROT Nine novel L1 CAM mutations in families with X-linked hydrocephalus. 9195224 1997
dbSNP: rs137852521
rs137852521
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0265216
Disease:
X-linked hydrocephalus syndrome 		0.810 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: rs137852521
rs137852521
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0265216
Disease:
X-linked hydrocephalus syndrome 		0.810 GeneticVariation BEFREE Recently, two mutations (R184Q and H210Q) within the Ig2 region of the human L1 gene have been shown to be responsible for X-linked hydrocephalus and the related MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs) syndrome. 8636066 1996
dbSNP: rs137852521
rs137852521
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0265216
Disease:
X-linked hydrocephalus syndrome 		0.810 GeneticVariation UNIPROT Five novel mutations in the L1CAM gene in families with X linked hydrocephalus. 8929944 1996
dbSNP: rs137852521
rs137852521
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0265216
Disease:
X-linked hydrocephalus syndrome 		0.810 GeneticVariation UNIPROT Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS. 7562969 1995
dbSNP: rs137852521
rs137852521
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0265216
Disease:
X-linked hydrocephalus syndrome 		0.810 GeneticVariation UNIPROT New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome. 7762552 1995
dbSNP: rs137852521
rs137852521
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0265216
Disease:
X-linked hydrocephalus syndrome 		0.810 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: rs137852521
rs137852521
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0265216
Disease:
X-linked hydrocephalus syndrome 		0.810 GeneticVariation UNIPROT X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. 7920659 1994
dbSNP: rs137852521
rs137852521
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0265216
Disease:
X-linked hydrocephalus syndrome 		0.810 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: rs137852521
rs137852521
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0265216
Disease:
X-linked hydrocephalus syndrome 		0.810 GeneticVariation UNIPROT A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS) 8401576 1993
dbSNP: rs137852521
rs137852521
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0265216
Disease:
X-linked hydrocephalus syndrome 		T 0.810 CausalMutation CLINVAR
dbSNP: rs137852519
rs137852519
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0795953
Disease:
MASA SYNDROME (disorder) 		0.800 GeneticVariation UNIPROT L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains. 26891472 2017
dbSNP: rs137852522
rs137852522
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0795953
Disease:
MASA SYNDROME (disorder) 		0.800 GeneticVariation UNIPROT L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains. 26891472 2017
dbSNP: rs137852523
rs137852523
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0795953
Disease:
MASA SYNDROME (disorder) 		0.800 GeneticVariation UNIPROT L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains. 26891472 2017