CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4048158
Disease: Convulsions
Convulsions
0.310 Biomarker phenotype CTD_human Historic, clinical, and prognostic features of epileptic encephalopathies caused by CDKL5 mutations. 22264704 2012
CUI: C4048158
Disease: Convulsions
Convulsions
0.310 GeneticVariation phenotype BEFREE Our results show that CDKL5 is responsible for a rare variant of Rett syndrome characterised by early development of convulsions, usually of the spasm type. 15689447 2005