L1CAM, L1 cell adhesion molecule, 3897

N. diseases: 289; N. variants: 35
Disease: Aqueductal Stenosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis 		0.140 GeneticVariation disease BEFREE WES of family members of a sporadic and familial form of severe L1CAM mutation-negative CH associated with aqueductal stenosis was performed. 31393094 2019
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis 		0.140 Biomarker disease BEFREE Using CRISPR/Cas9 gene editing, we modeled human L1CAM and CRB2 mediated aqueductal stenosis. 30996265 2019
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis 		0.140 GeneticVariation disease BEFREE Congenital hydrocephalus associated with aqueductal stenosis and/or agenesis of the corpus callosum has been described in newborn males with mutations in L1CAM, a gene that encodes a neural cell adhesion molecule. 11857550 2002
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis 		0.140 GeneticVariation disease BEFREE Mutation screening of the L1-CAM gene is indicated when neuropathological examination shows hypoplasia of the corticospinal tract associated with aqueductal stenosis. 11787037 2001
CUI: C2936786
Disease: Aqueductal Stenosis
Aqueductal Stenosis 		0.140 Biomarker disease HPO