DCX, doublecortin, 1641

N. diseases: 175; N. variants: 107
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly
0.400 Biomarker disease BEFREE NuMA1 inhibits the endocytosis of AIS NF186 by impeding Lis1's interaction with doublecortin, a potent facilitator of NF186 endocytosis. 31727776 2020
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly
0.400 Biomarker disease BEFREE We established human iPSCs from two males with mutated DCX and classical lissencephaly including smooth brain and abnormal cortical morphology. 28924182 2018
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly
0.400 Biomarker disease BEFREE Our first classification of LIS and subcortical band heterotopia (SBH) was developed to distinguish between the first two genetic causes of LIS-LIS1 (PAFAH1B1) and DCX. 28440899 2017
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly
0.400 GeneticVariation disease BEFREE X-linked isolated lissencephaly sequence and subcortical band heterotopia are allelic human disorders associated with mutations of doublecortin (DCX), giving both familial and sporadic forms. 23365099 2013
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly
0.400 Biomarker disease BEFREE Incorporation of deletion/duplication analysis of the LIS1 and DCX genes will be important for the molecular diagnosis of patients with ILS and SBH. 19050731 2009
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly
0.400 GeneticVariation disease BEFREE XLIS mutations cause classical lissencephaly in hemizygous males and subcortical band heterotopia in heterozygous females. 14617417 2003
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly
0.400 GeneticVariation disease BEFREE The authors describe a large Sardinian family in which three brothers with ILS have a missense mutation of the DCX gene. 11468322 2001
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly
0.400 GeneticVariation disease BEFREE XLIS mutations cause classical lissencephaly in hemizygous males and subcortical band heterotopia (SBH) in heterozygous females. 11579436 2001
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly
0.400 GeneticVariation disease BEFREE LIS1 heterozygous loss-of-function deletions and point mutations, as well as Doublecortin mutations in males, lead to a very similar phenotype, termed type 1 lissencephaly. 11262729 2001
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly
0.400 GeneticVariation disease BEFREE Current molecular genetic techniques combined with the identification of affected patients have enabled the detection of two of the genes responsible: LIS1 (PAFAH1B1) on chromosome 17 and DCX (doublecortin) on the X chromosome. 10859564 2000
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly
0.400 GeneticVariation disease BEFREE Our results indicate that in the Japanese, as has been seen elsewhere, abnormality of the DCX gene is the common cause of SCLH and ILS. 10807542 2000
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly
0.400 Biomarker disease BEFREE Classical lissencephaly and double cortex (subcortical band heterotopia): LIS1 and doublecortin. 10987567 2000
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly
0.400 GeneticVariation disease BEFREE The molecular and genetic basis of DC/ILS is associated with mutations in the X-linked doublecortin gene (DCX). 11071144 2000
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly
0.400 GeneticVariation disease BEFREE However, it differs in many regards from the X-linked form of isolated lissencephaly sequence that is associated with mutations of the XLIS (DCX) gene. 10494089 1999
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly
0.400 GeneticVariation disease BEFREE Direct DNA sequencing of LIS1 and XLIS was performed in 25 children with sporadic LIS and no deletion of LIS1 by fluorescence in situ hybridization. 9817918 1998
CUI: C0431375
Disease: Classical Lissencephaly
Classical 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: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly
0.400 GeneticVariation disease BEFREE A recently identified gene, doublecortin ( DCX ), is expressed in fetal brain and mutated in LIS/SBH patients. 9668176 1998
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly
0.400 Biomarker disease CTD_human