CDKL5, cyclin dependent kinase like 5, 6792

N. diseases: 224; N. variants: 221
Disease: Central hypotonia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555955296
rs1555955296
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1842364
Disease:
Central hypotonia 		T 0.700 CausalMutation CLINVAR