DCX, doublecortin, 1641

N. diseases: 175; N. variants: 107
Disease: X-Linked Lissencephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848199
Disease: X-Linked Lissencephaly
X-Linked Lissencephaly 		0.400 GeneticVariation disease BEFREE The location of DCX mutations predicts malformation severity in X-linked lissencephaly. 18685874 2008
CUI: C1848199
Disease: X-Linked Lissencephaly
X-Linked Lissencephaly 		0.400 GeneticVariation disease BEFREE The neuronal migration disorders, X-linked lissencephaly syndrome (XLIS) and subcortical band heterotopia (SBH), also called "double cortex", have been linked to missense, nonsense, aberrant splicing, deletion, and insertion mutations in doublecortin (DCX) in families and sporadic cases. 16100463 2005
CUI: C1848199
Disease: X-Linked Lissencephaly
X-Linked Lissencephaly 		0.400 GeneticVariation disease BEFREE Mutations in the X-linked gene doublecortin lead to "double cortex" syndrome (DC) in females and to X-linked lissencephaly (XLIS) in males. 10915612 2000
CUI: C1848199
Disease: X-Linked Lissencephaly
X-Linked Lissencephaly 		0.400 GeneticVariation disease BEFREE Mutations of the DCX gene (Xp22.3) cause X-linked lissencephaly in males and double cortex syndrome (DCS) or subcortical band heterotopia (SBH) in females. 19619967 2010
CUI: C1848199
Disease: X-Linked Lissencephaly
X-Linked Lissencephaly 		0.400 GeneticVariation disease BEFREE Mutations in the X-linked gene doublecortin, which encodes a protein with no dear structural homologues, are found in pedigrees in which affected females show "double cortex" syndrome (DC; also known as subcortical band heterotopia or laminar heterotopia) and affected males show X-linked lissencephaly. 9989615 1999
CUI: C1848199
Disease: X-Linked Lissencephaly
X-Linked Lissencephaly 		0.400 GeneticVariation disease BEFREE Mutations in doublecortin (DCX) cause X-linked lissencephaly ("smooth brain") and double cortex syndrome in humans. 16530423 2006
CUI: C1848199
Disease: X-Linked Lissencephaly
X-Linked Lissencephaly 		0.400 GeneticVariation disease BEFREE Mutations in the genes that encode filamin-1, Lis1 and doublecortin are responsible for X-linked lissencephaly in man, whereas mutations in the genes that encode Cdk5, its activator p35 and the reelin-signaling pathway disturb migration and architectonic development in mice. 10826984 2000
CUI: C1848199
Disease: X-Linked Lissencephaly
X-Linked Lissencephaly 		0.400 Biomarker disease BEFREE X linked lissencephaly and subcortical band heterotopia (XLIS/SBH) is a disorder of cortical development, which causes classical lissencephaly with severe mental retardation and epilepsy in hemizygous males and SBH associated with milder mental retardation and epilepsy in heterozygous females. 9783706 1998
CUI: C1848199
Disease: X-Linked Lissencephaly
X-Linked Lissencephaly 		0.400 GeneticVariation disease BEFREE Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. 9489700 1998
CUI: C1848199
Disease: X-Linked Lissencephaly
X-Linked Lissencephaly 		0.400 GeneticVariation disease BEFREE LIS1 was the first gene cloned that was important for neuronal migration in any organism, and heterozygous mutations or deletions of LIS1 are found in the majority of patients with lissencephaly, while DCX mutations were found in males with X-linked lissencephaly. 20688183 2010
CUI: C1848199
Disease: X-Linked Lissencephaly
X-Linked Lissencephaly 		0.400 GeneticVariation disease BEFREE A novel mutation of the doublecortin gene in Japanese patients with X-linked lissencephaly and subcortical band heterotopia. 10369164 1999
CUI: C1848199
Disease: X-Linked Lissencephaly
X-Linked Lissencephaly 		0.400 GeneticVariation disease BEFREE A novel DCX missense mutation in a family with X-linked lissencephaly and subcortical band heterotopia syndrome inherited from a low-level somatic mosaic mother: Genetic and functional studies. 27292316 2016
CUI: C1848199
Disease: X-Linked Lissencephaly
X-Linked Lissencephaly 		0.400 Biomarker disease BEFREE Recently, a brain specific gene, Doublecortin, was cloned and was shown to have mutations in X-linked lissencephaly and double cortex syndrome. 9747029 1998
CUI: C1848199
Disease: X-Linked Lissencephaly
X-Linked Lissencephaly 		0.400 Biomarker disease CTD_human