rs1555955290, CDKL5

N. diseases: 1
Disease: Cyclin-dependent kinase-like 5 deficiency ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cyclin-dependent kinase-like 5 deficiency
CUI: C4750718
Disease: Cyclin-dependent kinase-like 5 deficiency
0.700 CausalMutation CLINVAR Mutation in an alternative transcript of CDKL5 in a boy with early-onset seizures. 29444904 2018