DCX, doublecortin, 1641

N. diseases: 175; N. variants: 107
Disease: Lissencephaly, X-Linked, 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587783559
rs587783559
Entrez Id: 1641
Gene Symbol: DCX
DCX
CUI: C4551968
Disease:
Lissencephaly, X-Linked, 1 		0.700 GeneticVariation UNIPROT Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females. 12390976 2002
dbSNP: rs587783559
rs587783559
Entrez Id: 1641
Gene Symbol: DCX
DCX
CUI: C4551968
Disease:
Lissencephaly, X-Linked, 1 		0.700 GeneticVariation UNIPROT Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia. 11175293 2001
dbSNP: rs587783559
rs587783559
Entrez Id: 1641
Gene Symbol: DCX
DCX
CUI: C4551968
Disease:
Lissencephaly, X-Linked, 1 		0.700 GeneticVariation UNIPROT Mutation of the doublecortin gene in male patients with double cortex syndrome: somatic mosaicism detected by hair root analysis. 11601509 2001
dbSNP: rs587783559
rs587783559
Entrez Id: 1641
Gene Symbol: DCX
DCX
CUI: C4551968
Disease:
Lissencephaly, X-Linked, 1 		0.700 GeneticVariation UNIPROT Genetic alteration of the DCX gene in Japanese patients with subcortical laminar heterotopia or isolated lissencephaly sequence. 10807542 2000
dbSNP: rs587783559
rs587783559
Entrez Id: 1641
Gene Symbol: DCX
DCX
CUI: C4551968
Disease:
Lissencephaly, X-Linked, 1 		0.700 GeneticVariation UNIPROT Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. 10441340 1999
dbSNP: rs587783559
rs587783559
Entrez Id: 1641
Gene Symbol: DCX
DCX
CUI: C4551968
Disease:
Lissencephaly, X-Linked, 1 		0.700 GeneticVariation UNIPROT Characterization of mutations in the gene doublecortin in patients with double cortex syndrome. 9989615 1999
dbSNP: rs587783559
rs587783559
Entrez Id: 1641
Gene Symbol: DCX
DCX
CUI: C4551968
Disease:
Lissencephaly, X-Linked, 1 		0.700 GeneticVariation UNIPROT A novel mutation of the doublecortin gene in Japanese patients with X-linked lissencephaly and subcortical band heterotopia. 10369164 1999
dbSNP: rs587783559
rs587783559
Entrez Id: 1641
Gene Symbol: DCX
DCX
CUI: C4551968
Disease:
Lissencephaly, X-Linked, 1 		0.700 GeneticVariation UNIPROT doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH). 9618162 1998