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: C4310739
Disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME 		0.720 GeneticVariation disease BEFREE Okur-Chung neurodevelopmental syndrome (OCNS, MIM#617062) is a rare autosomal dominant syndrome related to CSNK2A1 mutations. 31729156 2020
CUI: C4310739
Disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME 		0.720 GeneticVariation disease BEFREE Variants in the Protein Kinase CK2 alpha subunit, encoding the CSNK2A1 gene, have previously been reported in children with an intellectual disability and dysmorphic facial features syndrome: now termed the Okur-Chung neurodevelopmental syndrome. 29383814 2018
CUI: C4310739
Disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME 		0.720 Biomarker disease GENOMICS_ENGLAND De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features. 27048600 2016
CUI: C4310739
Disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME 		0.720 Biomarker disease GENOMICS_ENGLAND De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features. 27048600 2016
CUI: C4310739
Disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME 		0.720 GeneticVariation disease UNIPROT De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features. 27048600 2016
CUI: C4310739
Disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME 		0.720 GeneticVariation disease CLINVAR
CUI: C4310739
Disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME 		0.720 Biomarker disease CTD_human
CUI: C4310739
Disease: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME 		0.720 CausalMutation disease CLINVAR
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
CUI: C0023493
Disease: Adult T-Cell Lymphoma/Leukemia
Adult T-Cell Lymphoma/Leukemia 		0.300 Biomarker disease CTD_human Integrated molecular analysis of adult T cell leukemia/lymphoma. 26437031 2015
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.300 Biomarker disease CTD_human Arsenic-induced malignant transformation of human keratinocytes: involvement of Nrf2. 18572023 2008
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.300 Biomarker disease CTD_human Arsenic-induced malignant transformation of human keratinocytes: involvement of Nrf2. 18572023 2008
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms 		0.300 Biomarker group CTD_human Arsenic-induced malignant transformation of human keratinocytes: involvement of Nrf2. 18572023 2008
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.200 Biomarker disease RGD Differential gene expression in infarct scar and viable myocardium from rat heart following coronary ligation. 15090263 2004
CUI: C0024668
Disease: Mammary Neoplasms, Experimental
Mammary Neoplasms, Experimental 		0.200 Biomarker phenotype RGD Protein kinase CK2: signaling and tumorigenesis in the mammary gland. 11827167 2001
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation disease CLINVAR Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion. 29240241 2018
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation disease CLINVAR Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation disease CLINVAR De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features. 27048600 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation disease CLINVAR Presynaptic CK2 promotes synapse organization and stability by targeting Ankyrin2. 24395637 2014
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation disease CLINVAR Predominance of CK2α over CK2α' in the mammalian brain. 21761202 2011
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.120 GeneticVariation disease CLINVAR The alpha catalytic subunit of protein kinase CK2 is required for mouse embryonic development. 17954558 2008
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 GeneticVariation disease BEFREE Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures. 30655572 2019