DCX, doublecortin, 1641

N. diseases: 175; N. variants: 107
Disease: Miller Dieker syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.310 GeneticVariation disease BEFREE We compared the phenotype, especially brain imaging studies, in a series of 48 children with lissencephaly, including 12 with Miller-Dieker syndrome (MDS), which is associated with large deletions of LIS1 and other genes in the region, 24 with isolated lissencephaly sequence caused by smaller LIS1 deletions or mutations, and 12 with isolated lissencephaly sequence caused by XLIS mutations. 10430413 1999
CUI: C0265219
Disease: Miller Dieker syndrome
Miller Dieker syndrome 		0.310 Biomarker disease CTD_human