CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
Disease: nervous system disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.040 GeneticVariation group BEFREE Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene cause a complex neurological disorder, characterized by infantile seizures, impairment of cognitive and motor skills and autistic features. 29618004 2018
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.040 Biomarker group BEFREE CDKL5 deficiency is a severe neurological disorder caused by mutations in the X-linked Cyclin-Dependent Kinase-Like 5 gene (CDKL5). 27940108 2017
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.040 GeneticVariation group BEFREE Mouse models of XLAG, ISSX and other human ARX mutations demonstrate a direct genotype-phenotype correlation in ARX-related neurologic disorders. 24236044 2013
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.040 Biomarker group 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