rs104894784, DCX

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Lissencephaly, X-Linked, 1
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
0.800 GeneticVariation UNIPROT Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females. 12390976 2002
Lissencephaly, X-Linked, 1
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
0.800 GeneticVariation UNIPROT Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia. 11175293 2001
Lissencephaly, X-Linked, 1
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
0.800 GeneticVariation UNIPROT Mutation of the doublecortin gene in male patients with double cortex syndrome: somatic mosaicism detected by hair root analysis. 11601509 2001
Lissencephaly, X-Linked, 1
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
0.800 GeneticVariation UNIPROT Genetic alteration of the DCX gene in Japanese patients with subcortical laminar heterotopia or isolated lissencephaly sequence. 10807542 2000
Lissencephaly, X-Linked, 1
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
0.800 GeneticVariation UNIPROT A novel mutation of the doublecortin gene in Japanese patients with X-linked lissencephaly and subcortical band heterotopia. 10369164 1999
Lissencephaly, X-Linked, 1
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
0.800 GeneticVariation UNIPROT Characterization of mutations in the gene doublecortin in patients with double cortex syndrome. 9989615 1999
Lissencephaly, X-Linked, 1
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
0.800 GeneticVariation UNIPROT Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. 10441340 1999
Lissencephaly, X-Linked, 1
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
0.800 GeneticVariation UNIPROT doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH). 9618162 1998
Lissencephaly, X-Linked, 1
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
0.800 CausalMutation CLINVAR
Malformations of Cortical Development, Group II
0.700 CausalMutation CLINVAR