CSNK2A1, casein kinase 2 alpha 1, 1457

N. diseases: 87; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures
0.310 GeneticVariation phenotype BEFREE Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures. 30655572 2019
CUI: C0036572
Disease: Seizures
Seizures
0.310 Biomarker phenotype GENOMICS_ENGLAND De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features. 27048600 2016