Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0000846
Disease: Agenesis
Agenesis 		0.020 GeneticVariation BEFREE Mutations in L1cam, a member of the immunoglobulin (Ig) superfamily that mediate cell-cell contacts through homo- and heterophilic interactions, are associated with several developmental abnormalities of the nervous system, including mental retardation, limb spasticity, hydrocephalus, and corpus callosum aplasia. 30842511

2019
Entrez Id: 3897
Gene Symbol: L1CAM
L1CAM
CUI: C0000846
Disease: Agenesis
Agenesis 		0.020 GeneticVariation BEFREE We suggest that L1CAM mutation testing should be considered in male patients with a positive family history compatible with X-linked inheritance and either the combination of agenesis of the CC and HSCR or the combination of agenesis of the CC and limb abnormalities, including abnormalities other than adducted thumbs. 16650080

2006