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: rs104894928
rs104894928
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE
T 0.800 CausalMutation CLINVAR
dbSNP: rs104894929
rs104894929
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE
G 0.800 CausalMutation CLINVAR
dbSNP: rs104894932
rs104894932
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE
G 0.800 CausalMutation CLINVAR
dbSNP: rs104894933
rs104894933
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE
A 0.800 CausalMutation CLINVAR
dbSNP: rs104894934
rs104894934
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE
G 0.800 CausalMutation CLINVAR
dbSNP: rs61752063
rs61752063
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE
G 0.800 CausalMutation CLINVAR
dbSNP: rs61752067
rs61752067
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE
A 0.800 CausalMutation CLINVAR
dbSNP: rs62653623
rs62653623
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency
T 0.710 CausalMutation CLINVAR
dbSNP: rs104894930
rs104894930
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C0152439
Disease:
Retinoschisis
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517433
rs1057517433
Entrez Id: 6247;6792
Gene Symbol: RS1;CDKL5
RS1;CDKL5
CUI: C3714753
Disease:
RETINOSCHISIS 1, X-LINKED, JUVENILE
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518203
rs1057518203
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency
T 0.700 CausalMutation CLINVAR
dbSNP: rs1057518759
rs1057518759
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0543888
Disease:
Epileptic encephalopathy
GGC 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518759
rs1057518759
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0424605
Disease:
Developmental delay (disorder)
GGC 0.700 GeneticVariation CLINVAR
dbSNP: rs1057519541
rs1057519541
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0014547
Disease:
Epilepsies, Partial
T 0.700 CausalMutation CLINVAR
dbSNP: rs1057519542
rs1057519542
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C0543888
Disease:
Epileptic encephalopathy
GGACC 0.700 CausalMutation CLINVAR
dbSNP: rs1060501859
rs1060501859
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1060501860
rs1060501860
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency
T 0.700 CausalMutation CLINVAR
dbSNP: rs122460157
rs122460157
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency
T 0.700 CausalMutation CLINVAR
dbSNP: rs122460157
rs122460157
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.700 GeneticVariation UNIPROT
dbSNP: rs122460157
rs122460157
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency
A 0.700 GeneticVariation CLINVAR
dbSNP: rs122460157
rs122460157
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C2748910
Disease:
Rett Syndrome, Atypical
T 0.700 CausalMutation CLINVAR
dbSNP: rs122460158
rs122460158
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency
T 0.700 CausalMutation CLINVAR
dbSNP: rs122460158
rs122460158
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C2748910
Disease:
Rett Syndrome, Atypical
T 0.700 CausalMutation CLINVAR
dbSNP: rs122460159
rs122460159
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.700 GeneticVariation UNIPROT
dbSNP: rs122460159
rs122460159
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C2748910
Disease:
Rett Syndrome, Atypical
T 0.700 CausalMutation CLINVAR