Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
0.600 Biomarker disease GENOMICS_ENGLAND
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
0.600 GeneticVariation disease CLINVAR
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.430 Biomarker disease GENOMICS_ENGLAND
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.430 Biomarker disease HPO
CUI: C0393702
Disease: Myoclonic Astatic Epilepsy
Myoclonic Astatic Epilepsy
0.400 Biomarker disease HPO
CUI: C0751776
Disease: Atypical Inclusion-Body Disease
Atypical Inclusion-Body Disease
0.300 Biomarker disease CTD_human
Familial Progressive Myoclonic Epilepsy
0.300 Biomarker disease CTD_human
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive
0.300 Biomarker disease CTD_human
Action Myoclonus-Renal Failure Syndrome
0.300 Biomarker disease CTD_human
CUI: C0751780
Disease: Biotin-Responsive Encephalopathy
Biotin-Responsive Encephalopathy
0.300 Biomarker disease CTD_human
Dentatorubral-Pallidoluysian Atrophy
0.300 Biomarker disease CTD_human
CUI: C0751782
Disease: May-White Syndrome
May-White Syndrome
0.300 Biomarker disease CTD_human
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.150 Biomarker group HPO
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
0.140 Biomarker group HPO
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
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: C0004134
Disease: Ataxia
Ataxia
0.100 Biomarker phenotype HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria
0.100 Biomarker disease HPO
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior
0.100 Biomarker phenotype HPO
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
0.100 CausalMutation disease CLINVAR
CUI: C0027066
Disease: Myoclonus
Myoclonus
0.100 Biomarker phenotype HPO
CUI: C0031212
Disease: Personality Disorders
Personality Disorders
0.100 Biomarker group HPO
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus
0.100 Biomarker disease HPO
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal
0.100 Biomarker phenotype HPO