DCX, doublecortin, 1641

N. diseases: 175; N. variants: 107
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.150 GeneticVariation group BEFREE Human doublecortin (DCX) mutations are associated with severe brain malformations leading to aberrant neuron positioning (heterotopia), intellectual disability and epilepsy. 28007902 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.150 GeneticVariation group BEFREE In human patients, cortical dysplasia produced by Doublecortin (DCX) mutations lead to mental retardation and intractable infantile epilepsies, but the underlying mechanisms are not known. 19144832 2009
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.150 GeneticVariation group LHGDN Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations. 12838518 2003
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.150 GeneticVariation group BEFREE Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations. 12838518 2003
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.150 Biomarker group BEFREE A novel human gene, TRPC5, was cloned from the region of Xq23 that contains loci for nonsyndromic mental retardation (MRX47 and MRX35) and two genes, DCX and HPAK3, implicated in two X-linked disorders (LISX and MRX30). 10493832 1999
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.150 GeneticVariation group 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.150 Biomarker group HPO