Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1641
Gene Symbol: DCX
DCX
CUI: C0302142
Disease: Deformity
Deformity
0.040 GeneticVariation BEFREE Subcortical band heterotopia (SBH), also known as doublecortex syndrome, is a malformation of cortical development resulting from mutations in the doublecortin gene (DCX). 30689978

2019

Entrez Id: 1641
Gene Symbol: DCX
DCX
CUI: C0302142
Disease: Deformity
Deformity
0.040 GeneticVariation BEFREE The location of DCX mutations predicts malformation severity in X-linked lissencephaly. 18685874

2008

Entrez Id: 1641
Gene Symbol: DCX
DCX
CUI: C0302142
Disease: Deformity
Deformity
0.040 GeneticVariation BEFREE In addition, 6 patients had no defined genetic defect, although the patient with subcortical band heterotopia exhibited the same pattern of malformation expected with an XLIS mutation. 16215456

2005

Entrez Id: 1641
Gene Symbol: DCX
DCX
CUI: C0302142
Disease: Deformity
Deformity
0.040 GeneticVariation BEFREE We found consistent differences in the gyral patterns, with the malformation more severe posteriorly in individuals with LIS1 mutations and more severe anteriorly in individuals with XLIS mutations. 10430413

1999