Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
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: 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: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.110 Biomarker disease HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.100 Biomarker disease HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease 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: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		0.100 Biomarker disease HPO
CUI: C0020608
Disease: Hypodontia
Hypodontia 		0.100 Biomarker disease HPO
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		0.100 Biomarker phenotype HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		0.100 Biomarker phenotype HPO
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.100 Biomarker phenotype HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.100 Biomarker phenotype HPO
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.100 Biomarker disease HPO