Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 GeneticVariation disease CLINVAR
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		0.730 Biomarker disease CTD_human
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		0.730 Biomarker disease GENOMICS_ENGLAND
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		0.700 CausalMutation disease CLINVAR
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		0.700 Biomarker disease HPO
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3 		0.700 Biomarker disease CTD_human
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3 		0.700 CausalMutation disease CLINVAR
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3 		0.700 GeneticVariation disease CLINVAR
CUI: C3502809
Disease: Generalized Epilepsy with Febrile Seizures Plus
Generalized Epilepsy with Febrile Seizures Plus 		0.600 Biomarker disease MGD
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.530 Biomarker disease MGD
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 Biomarker group HPO
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.410 Biomarker group HPO
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		0.360 Biomarker disease MGD
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		0.360 GeneticVariation disease CLINVAR
CUI: C2733158
Disease: Cerebral Small Vessel Diseases
Cerebral Small Vessel Diseases 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0036572
Disease: Seizures
Seizures 		0.200 GeneticVariation phenotype CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.200 CausalMutation phenotype CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.200 Biomarker phenotype HPO
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.200 Biomarker group HPO
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.200 Biomarker disease HPO
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.200 Biomarker disease HPO
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.200 CausalMutation disease CLINVAR
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.200 GeneticVariation disease CLINVAR