DCX, doublecortin, 1641

N. diseases: 175; N. variants: 107
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
0.120 GeneticVariation disease BEFREE The novel DCX mutation (p.D90G, NP_000546.2) appeared to be a major causative variant, whereas the novel mutation of TUBB1 (p.R62fsX, NP_110400.1) was found only in patients with more-severe intellectual disability after gender matching. 26743950 2016
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
0.120 GeneticVariation disease 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: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
0.120 Biomarker disease HPO