CUX2, cut like homeobox 2, 23316

N. diseases: 87; N. variants: 21
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748341
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 		0.600 GeneticVariation disease UNIPROT A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder. 29795476 2018
CUI: C4748341
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 		0.600 GeneticVariation disease CLINVAR The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant. 29630738 2018
CUI: C4748341
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 		0.600 GeneticVariation disease CLINVAR A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder. 29795476 2018
CUI: C4748341
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 		0.600 GeneticVariation disease UNIPROT The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant. 29630738 2018
CUI: C4748341
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 		0.600 GeneticVariation disease CLINVAR Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. 28628100 2017
CUI: C4748341
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 		0.600 Biomarker disease GENOMICS_ENGLAND De novo mutations in epileptic encephalopathies. 23934111 2013
CUI: C4748341
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 		0.600 GeneticVariation disease CLINVAR Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 23020937 2012
CUI: C4748341
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67 		0.600 CausalMutation disease CLINVAR
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 GeneticVariation group BEFREE One of the involved genes, CUX2, has twice been reported to be affected by a de novo variant c.1768G>A; p.(Glu590Lys) in patients with ID or epileptic encephalopathy. 29795476 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker group GENOMICS_ENGLAND De novo mutations in epileptic encephalopathies. 23934111 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker group HPO
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.400 Biomarker disease GENOMICS_ENGLAND De novo mutations in epileptic encephalopathies. 23934111 2013
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.400 Biomarker disease HPO
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.320 Biomarker disease PSYGENET Linkage disequilibrium mapping of bipolar affective disorder at 12q23-q24 provides evidence for association at CUX2 and FLJ32356. 15389760 2005
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.320 Biomarker disease BEFREE Linkage disequilibrium mapping of bipolar affective disorder at 12q23-q24 provides evidence for association at CUX2 and FLJ32356. 15389760 2005
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.320 AlteredExpression disease BEFREE CUX2, a potential regulator of NCAM expression: genomic characterization and analysis as a positional candidate susceptibility gene for bipolar disorder. 11353453 2001
CUI: C1839839
Disease: MAJOR AFFECTIVE DISORDER 2
MAJOR AFFECTIVE DISORDER 2 		0.310 Biomarker disease BEFREE Linkage disequilibrium mapping of bipolar affective disorder at 12q23-q24 provides evidence for association at CUX2 and FLJ32356. 15389760 2005
CUI: C1839839
Disease: MAJOR AFFECTIVE DISORDER 2
MAJOR AFFECTIVE DISORDER 2 		0.310 Biomarker disease PSYGENET Linkage disequilibrium mapping of bipolar affective disorder at 12q23-q24 provides evidence for association at CUX2 and FLJ32356. 15389760 2005
CUI: C0238111
Disease: Lennox-Gastaut syndrome
Lennox-Gastaut syndrome 		0.300 GermlineCausalMutation disease ORPHANET The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant. 29630738 2018
CUI: C0036572
Disease: Seizures
Seizures 		0.300 Biomarker phenotype GENOMICS_ENGLAND De novo mutations in epileptic encephalopathies. 23934111 2013
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.110 GeneticVariation group BEFREE Patients with CUX2 p.Glu590Lys display a distinctive phenotypic spectrum, which is predominantly generalized epilepsy, with infantile-onset myoclonic DEE at the severe end and generalized epilepsy with severe static developmental encephalopathy at the milder end of the spectrum.Ann Neurol 2018;83:926-934. 29630738 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.110 GeneticVariation disease BEFREE One of the involved genes, CUX2, has twice been reported to be affected by a de novo variant c.1768G>A; p.(Glu590Lys) in patients with ID or epileptic encephalopathy. 29795476 2018
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.110 GeneticVariation disease BEFREE The other refined variant is in the CUX2 gene region for association with type 1 diabetes, where the newly identified top SNP rs1265564 has an association P-value of 1.68 × 10(-16). 22293688 2012
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.110 GeneticVariation disease GWASDB 1000 Genomes-based imputation identifies novel and refined associations for the Wellcome Trust Case Control Consortium phase 1 Data. 22293688 2012
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.110 GeneticVariation disease GWASCAT 1000 Genomes-based imputation identifies novel and refined associations for the Wellcome Trust Case Control Consortium phase 1 Data. 22293688 2012