CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
Disease: West Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555952078
rs1555952078
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0037769
Disease:
West Syndrome 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555954752
rs1555954752
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0037769
Disease:
West Syndrome 		AAGATCTC 0.700 GeneticVariation CLINVAR
dbSNP: rs267608421
rs267608421
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0037769
Disease:
West Syndrome 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs267608618
rs267608618
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0037769
Disease:
West Syndrome 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs267608472
rs267608472
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0037769
Disease:
West Syndrome 		0.010 GeneticVariation BEFREE In contrast, patients with mutations in the kinase domain (such as p.Arg59X, p.Arg134X, p.Arg178Trp/Pro/Gln, or c.145 + 2T > C) and frameshift mutations in the C-terminal region (such as c.2635_2636delCT) had a more severe phenotype with infantile spasms, refractory epileptic encephalopathy, absolute microcephaly, and inability to walk. 22678952 2012
dbSNP: rs267608493
rs267608493
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0037769
Disease:
West Syndrome 		0.010 GeneticVariation BEFREE In contrast, patients with mutations in the kinase domain (such as p.Arg59X, p.Arg134X, p.Arg178Trp/Pro/Gln, or c.145 + 2T > C) and frameshift mutations in the C-terminal region (such as c.2635_2636delCT) had a more severe phenotype with infantile spasms, refractory epileptic encephalopathy, absolute microcephaly, and inability to walk. 22678952 2012