CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
Disease: Epileptic encephalopathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518759
rs1057518759
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0543888
Disease:
Epileptic encephalopathy 		GGC 0.700 GeneticVariation CLINVAR
dbSNP: rs1057519542
rs1057519542
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0543888
Disease:
Epileptic encephalopathy 		GGACC 0.700 CausalMutation CLINVAR
dbSNP: rs1569219844
rs1569219844
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0543888
Disease:
Epileptic encephalopathy 		C 0.700 CausalMutation CLINVAR
dbSNP: rs267608501
rs267608501
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0543888
Disease:
Epileptic encephalopathy 		T 0.700 CausalMutation CLINVAR
dbSNP: rs786204967
rs786204967
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0543888
Disease:
Epileptic encephalopathy 		C 0.700 CausalMutation CLINVAR