CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
Disease: Epilepsy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs122460159
rs122460159
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0014544
Disease:
Epilepsy 		0.010 GeneticVariation BEFREE We identified two epilepsy-associated single nucleotide variants in our case: CDKL5 p.Ala40Val and KCNQ2 p.Glu515Asp. 25819767 2015
dbSNP: rs267608665
rs267608665
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C0014544
Disease:
Epilepsy 		0.010 GeneticVariation BEFREE A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder. 19428276 2010