rs1555949011, CDKL5

N. diseases: 1
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 Targeted next generation sequencing: the diagnostic value in early-onset epileptic encephalopathy. 27734276 2017