CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
Disease: Neurologic Symptoms ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		0.020 Biomarker group BEFREE The fact that CDKL5 is involved in the control of both neuron proliferation and differentiation may help understand the early appearance of neurological symptoms in patients with mutations in CDKL5. 22921766 2013
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		0.020 GeneticVariation group 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