rs587783521, 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
0.700 GeneticVariation UNIPROT A novel DCX missense mutation in a family with X-linked lissencephaly and subcortical band heterotopia syndrome inherited from a low-level somatic mosaic mother: Genetic and functional studies. 27292316 2016
Lissencephaly, X-Linked, 1
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
0.700 GeneticVariation UNIPROT Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders. 12552055 2003
Lissencephaly, X-Linked, 1
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
0.700 GeneticVariation UNIPROT Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene. 11468322 2001
Lissencephaly, X-Linked, 1
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
0.700 GeneticVariation UNIPROT Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. 9489700 1998
Lissencephaly, X-Linked, 1
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
0.700 GeneticVariation UNIPROT Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects. 9668176 1998
Lissencephaly, X-Linked, 1
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
0.700 GeneticVariation UNIPROT A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome. 9489699 1998
Lissencephaly, X-Linked, 1
CUI: C4551968
Disease: Lissencephaly, X-Linked, 1
0.700 GeneticVariation UNIPROT LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. 9817918 1998
Malformations of Cortical Development, Group II
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
0.700 CausalMutation CLINVAR