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
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67
0.600 CausalMutation disease CLINVAR
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.410 Biomarker group HPO
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
0.400 Biomarker disease HPO
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
0.110 Biomarker group HPO
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.110 Biomarker disease HPO
CUI: C0000921
Disease: Accidental Falls
Accidental Falls
0.100 Biomarker phenotype HPO
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior
0.100 Biomarker phenotype HPO
CUI: C0004158
Disease: Athetosis
Athetosis
0.100 Biomarker phenotype HPO
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome
0.100 Biomarker disease HPO
CUI: C0027066
Disease: Myoclonus
Myoclonus
0.100 Biomarker phenotype HPO
CUI: C0031212
Disease: Personality Disorders
Personality Disorders
0.100 Biomarker group HPO
CUI: C0234985
Disease: Mental deterioration
Mental deterioration
0.100 Biomarker phenotype HPO
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack
0.100 Biomarker disease HPO
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior
0.100 Biomarker phenotype HPO
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures
0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.100 Biomarker disease HPO
CUI: C0575081
Disease: Gait abnormality
Gait abnormality
0.100 Biomarker group HPO
CUI: C0595948
Disease: Atypical absence seizure
Atypical absence seizure
0.100 Biomarker disease HPO
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
0.100 Biomarker phenotype HPO
CUI: C1445953
Disease: Poor eye contact
Poor eye contact
0.100 Biomarker phenotype HPO
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures
0.100 Biomarker phenotype HPO
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology
0.100 Biomarker phenotype HPO
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures
0.100 Biomarker disease HPO
CUI: C4023479
Disease: EEG with focal sharp slow waves
EEG with focal sharp slow waves
0.100 Biomarker phenotype HPO
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
0.100 Biomarker phenotype HPO