Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		1.000 Biomarker GENOMICS_ENGLAND Congenital idiopathic intestinal pseudo-obstruction and hydrocephalus with stenosis of the aqueduct of sylvius. 15368500

2004
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		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: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		1.000 Biomarker GENOMICS_ENGLAND Although the disease phenotypes of this patient may well be independent, the alternative explanation that L1CAM mutations may contribute to both phenotypes cannot be excluded in view of an earlier report on another patient with both X linked hydrocephalus and HSCR. 9279760

1997
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		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: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		1.000 Biomarker GENOMICS_ENGLAND Linkage studies of X-linked recessive spastic paraplegia using DNA probes. 3460961

1986