CSNK2B, casein kinase 2 beta, 1460

N. diseases: 34; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.030 GeneticVariation group BEFREE In recent studies, de novo variants in CSNK2A1 and CSNK2B, which encode the subunits of CK2, have been identified in individuals with intellectual disability syndrome. 30655572 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.030 GeneticVariation group BEFREE Variants in CSNK2B associated with epilepsy and/or intellectual disability (ID)/developmental delay (DD) have been reported in five cases only. 31784560 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.030 GeneticVariation group BEFREE CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy. 28585349 2017