CDK5, cyclin dependent kinase 5, 1020

N. diseases: 204; N. variants: 3
Disease: Malformations of Cortical Development, Group II ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		0.020 Biomarker disease BEFREE Cdk5 inhibition induced severe migration defects in cortical neurons. 28854363 2017
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		0.020 PosttranslationalModification disease BEFREE These results establish a crucial role for 14-3-3epsilon in neuronal development by sustaining the effects of CDK5 phosphorylation and provide a molecular explanation for the differences in severity of human neuronal migration defects with 17p13.3 deletions. 12796778 2003