DCX, doublecortin, 1641

N. diseases: 175; N. variants: 107
Disease: Cortical Dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		0.010 GeneticVariation disease BEFREE We have studied the coding regions of the DCX gene in 11 Japanese patients with cortical dysplasia and have identified three different mutations (R186C in exon 3, R272X and R303X in exon 5) in four sporadic female cases. 10369164 1999