Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.070 GeneticVariation disease BEFREE Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been identified in patients with atypical Rett syndrome, X-linked infantile spasms sharing common features of generally early-onset seizures and mental retardation. 23242510 2013
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.070 GeneticVariation disease BEFREE Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation. 16935860 2006
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.070 GeneticVariation disease BEFREE X-linked cyclin-dependent kinase-like 5 (CDKL5 or STK9) has recently been implicated in atypical Rett and X-linked West syndromes, severe neurological disorders associated with mental retardation, loss of communication and motor skills and infantile spasms and seizures in predominantly females. 16330482 2005
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.070 GeneticVariation disease BEFREE The ARX and CDKL5 genes have been associated with West syndrome (infantile spasms, hypsarrhythmia, and mental retardation). 15689447 2005
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.070 GeneticVariation disease BEFREE Recently, we showed that truncation of the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene caused mental retardation and severe neurological symptoms in two female patients. 15499549 2004
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.070 GeneticVariation disease BEFREE Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. 15492925 2004
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.070 GeneticVariation disease BEFREE Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. 12736870 2003