CILK1, ciliogenesis associated kinase 1, 22858

N. diseases: 142; N. variants: 9
Disease: Juvenile Myoclonic Epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy 		0.320 GeneticVariation disease BEFREE To date, only six genes harboring pathogenic variants <i>(GABRA1, GABRD, EFHC1, BRD2, CASR, and ICK)</i> with Mendelian and complex inheritance and covering a limited proportion of the world population, are considered as major susceptibility alleles for JME. 31611775 2019
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy 		0.320 GermlineCausalMutation disease ORPHANET Variant ICK affects cell processes that help explain microdysgenesis and polyspike networks observed on EEG in juvenile myoclonic epilepsy. 29539279 2018
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy 		0.320 Biomarker disease BEFREE Variant ICK affects cell processes that help explain microdysgenesis and polyspike networks observed on EEG in juvenile myoclonic epilepsy. 29539279 2018