Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
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0.120 | GeneticVariation | disease | CLINVAR | Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion. | 29240241 | 2018 | ||||
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0.120 | Biomarker | disease | BEFREE | Taking into account that mutations in CSNK2A1, encoding the α subunit of CK2, were previously identified in patients with neurodevelopmental disorders and dysmorphic features, our study confirmed that the protein kinase CK2 plays a major role in brain, and showed that CSNK2, encoding the β subunit, is a novel ID gene. | 28585349 | 2017 | ||||
|
0.120 | GeneticVariation | disease | CLINVAR | Prevalence and architecture of de novo mutations in developmental disorders. | 28135719 | 2017 | ||||
|
0.120 | GeneticVariation | disease | BEFREE | We have performed WES for 4102 (1847 female; 2255 male) intellectual disability/developmental delay cases and we report five patients with a neurodevelopmental disorder associated with developmental delay, intellectual disability, behavioral problems, hypotonia, speech problems, microcephaly, pachygyria and dysmorphic features in whom we have identified de novo missense and canonical splice site mutations in CSNK2A1, the gene encoding CK2α, the catalytic subunit of protein kinase CK2, a ubiquitous serine/threonine kinase composed of two regulatory (β) and two catalytic (α and/or α') subunits. | 27048600 | 2016 | ||||
|
0.120 | GeneticVariation | disease | CLINVAR | De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features. | 27048600 | 2016 | ||||
|
0.120 | GeneticVariation | disease | CLINVAR | Presynaptic CK2 promotes synapse organization and stability by targeting Ankyrin2. | 24395637 | 2014 | ||||
|
0.120 | GeneticVariation | disease | CLINVAR | Predominance of CK2α over CK2α' in the mammalian brain. | 21761202 | 2011 | ||||
|
0.120 | GeneticVariation | disease | CLINVAR | The alpha catalytic subunit of protein kinase CK2 is required for mouse embryonic development. | 17954558 | 2008 |