CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
Disease: Cyclin-dependent kinase-like 5 deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62653623
rs62653623
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		0.710 GeneticVariation BEFREE Finally, we showed that acute treatment with the GluA2-lacking AMPAR blocker IEM-1460 decreased AMPAR currents, and rescued social deficits, working memory impairments, and seizure behavior latency in R59X mice.<b>SIGNIFICANCE STATEMENT</b> CDKL5 deficiency disorder (CDD) is a rare disease marked by autistic-like behaviors, intellectual disability, and seizures. 30952813 2019
dbSNP: rs62653623
rs62653623
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C4750718
Disease:
Cyclin-dependent kinase-like 5 deficiency 		T 0.710 CausalMutation CLINVAR