CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555940536
rs1555940536
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555949009
rs1555949009
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555949009
rs1555949009
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555949041
rs1555949041
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency
G 0.700 CausalMutation CLINVAR
dbSNP: rs1555949763
rs1555949763
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555950066
rs1555950066
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555950083
rs1555950083
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555950465
rs1555950465
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency
TAGCG 0.700 CausalMutation CLINVAR
dbSNP: rs1555950468
rs1555950468
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555950494
rs1555950494
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555951141
rs1555951141
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4552072
Disease:
X-linked infantile spasms
TC 0.700 CausalMutation CLINVAR
dbSNP: rs1555951991
rs1555951991
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555952015
rs1555952015
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555952052
rs1555952052
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555952078
rs1555952078
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0037769
Disease:
West Syndrome
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555952101
rs1555952101
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555954074
rs1555954074
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555954078
rs1555954078
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555954737
rs1555954737
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555954752
rs1555954752
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0037769
Disease:
West Syndrome
AAGATCTC 0.700 GeneticVariation CLINVAR
dbSNP: rs1555955296
rs1555955296
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1842364
Disease:
Central hypotonia
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555955296
rs1555955296
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1836829
Disease:
Developmental stagnation at onset of seizures
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555955296
rs1555955296
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4551570
Disease:
2-3 toe syndactyly
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555955296
rs1555955296
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4022919
Disease:
Appendicular hypotonia
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555955296
rs1555955296
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency
T 0.700 CausalMutation CLINVAR