Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 Biomarker disease CTD_human
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.460 Biomarker disease HPO
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		0.450 Biomarker disease HPO
CUI: C3502809
Disease: Generalized Epilepsy with Febrile Seizures Plus
Generalized Epilepsy with Febrile Seizures Plus 		0.380 GeneticVariation disease ORPHANET
CUI: C1842382
Disease: Epilepsy, Benign Neonatal, 3
Epilepsy, Benign Neonatal, 3 		0.300 Biomarker disease CTD_human
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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.190 Biomarker group HPO
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.180 GeneticVariation disease CLINVAR
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.180 Biomarker disease HPO
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.180 CausalMutation disease CLINVAR
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.150 CausalMutation disease CLINVAR
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.150 GeneticVariation disease CLINVAR
CUI: C1720189
Disease: Episodic Ataxia
Episodic Ataxia 		0.140 Biomarker disease HPO
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.120 GeneticVariation disease CLINVAR
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.120 Biomarker disease HPO
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.120 CausalMutation disease CLINVAR
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 Biomarker disease HPO
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.110 Biomarker phenotype HPO
CUI: C0233794
Disease: Memory impairment
Memory impairment 		0.110 Biomarker phenotype HPO
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		0.110 Biomarker disease HPO
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		0.110 Biomarker disease HPO
CUI: C0542476
Disease: Forgetful
Forgetful 		0.110 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker disease HPO