Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		0.100 Biomarker phenotype HPO
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		0.100 Biomarker phenotype HPO
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		0.100 Biomarker disease HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.100 Biomarker disease HPO
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.100 Biomarker disease HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0456909
Disease: Blindness
Blindness 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.100 Biomarker disease HPO
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 Biomarker phenotype HPO
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker disease HPO
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		0.100 Biomarker phenotype HPO
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 Biomarker phenotype HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		0.100 Biomarker disease HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.100 Biomarker phenotype HPO
CUI: C4023687
Disease: EEG with multifocal slow activity
EEG with multifocal slow activity 		0.100 Biomarker phenotype HPO
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.100 Biomarker group HPO
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.110 Biomarker disease HPO
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.110 GeneticVariation disease BEFREE Our data support ARV1 deficiency as a cause of autosomal recessive epileptic encephalopathy. 27270415 2016
CUI: C4310762
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38 		0.700 CausalMutation disease CLINVAR
CUI: C4310762
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38 		0.700 Biomarker disease CTD_human
CUI: C4310762
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38 		0.700 GeneticVariation disease UNIPROT Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy. 27270415 2016
CUI: C4310762
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38 		0.700 GeneticVariation disease UNIPROT Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 25558065 2015
CUI: C4310762
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38 		0.700 Biomarker disease GENOMICS_ENGLAND Deletion of murine Arv1 results in a lean phenotype with increased energy expenditure. 26479315 2015