L1CAM, L1 cell adhesion molecule, 3897

N. diseases: 289; N. variants: 35
Disease: Aphasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003537
Disease: Aphasia
Aphasia 		0.410 GeneticVariation disease BEFREE We report here the first case of an L1CAM gene mutation identified in mental retardation, adducted thumbs, shuffling gait, and aphasia (MASA) syndrome in Japan. 15904436 2005
CUI: C0003537
Disease: Aphasia
Aphasia 		0.410 Biomarker disease CTD_human MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM. 7920660 1994
CUI: C0003537
Disease: Aphasia
Aphasia 		0.410 Biomarker disease HPO