Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.700 GeneticVariation disease CLINVAR
CUI: C3151411
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6
MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 		0.700 Biomarker disease CTD_human
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.700 Biomarker disease CTD_human
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.700 GeneticVariation disease CLINVAR
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.650 GeneticVariation disease CLINVAR
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.470 Biomarker group HPO
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.430 GeneticVariation disease CLINVAR
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.420 Biomarker disease HPO
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.410 Biomarker disease HPO
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.190 GeneticVariation disease CLINVAR
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.180 GeneticVariation phenotype CLINVAR
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.180 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.150 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.150 GeneticVariation phenotype CLINVAR
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		0.140 Biomarker disease HPO
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.110 GeneticVariation phenotype CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 GeneticVariation disease CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker disease HPO
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0.110 GeneticVariation disease CLINVAR
CUI: C0004106
Disease: Astigmatism
Astigmatism 		0.100 CausalMutation disease CLINVAR
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0008489
Disease: Chorea
Chorea 		0.100 Biomarker phenotype HPO
CUI: C0009806
Disease: Constipation
Constipation 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.100 GeneticVariation disease CLINVAR