Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
0.600 SusceptibilityMutation phenotype CLINVAR
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.600 CausalMutation disease CLINVAR
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.600 GeneticVariation disease CLINVAR
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43
0.600 Biomarker disease CTD_human
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.540 Biomarker disease MGD
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy
0.500 Biomarker disease HPO
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
0.430 Biomarker disease HPO
CUI: C1838604
Disease: EPILEPSY, CHILDHOOD ABSENCE, 1
EPILEPSY, CHILDHOOD ABSENCE, 1
0.400 GeneticVariation disease CLINVAR
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.150 Biomarker disease HPO
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.150 GeneticVariation disease CLINVAR
CUI: C0036572
Disease: Seizures
Seizures
0.130 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.130 Biomarker disease HPO
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
0.120 Biomarker disease HPO
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
0.120 Biomarker group HPO
CUI: C0856975
Disease: Autistic behavior
Autistic behavior
0.110 Biomarker disease HPO
Attention deficit hyperactivity disorder
0.110 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.110 Biomarker group HPO
CUI: C4316903
Disease: Absence Seizures
Absence Seizures
0.110 Biomarker phenotype 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: C0003467
Disease: Anxiety
Anxiety
0.100 Biomarker disease HPO
CUI: C0004134
Disease: Ataxia
Ataxia
0.100 Biomarker phenotype HPO
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome
0.100 Biomarker disease HPO
CUI: C0020578
Disease: Hyperventilation
Hyperventilation
0.100 Biomarker phenotype HPO
CUI: C0027066
Disease: Myoclonus
Myoclonus
0.100 Biomarker phenotype HPO