Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310700
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		0.700 Biomarker disease GENOMICS_ENGLAND Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy. 27545681 2016
CUI: C4310700
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		0.700 GeneticVariation disease UNIPROT Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy. 27545674 2016
CUI: C4310700
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		0.700 CausalMutation disease CLINVAR Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy. 27545674 2016
CUI: C4310700
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		0.700 CausalMutation disease CLINVAR Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy. 27545681 2016
CUI: C4310700
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		0.700 GeneticVariation disease UNIPROT Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy. 27545681 2016
CUI: C4310700
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		0.700 Biomarker disease GENOMICS_ENGLAND Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy. 27545674 2016
CUI: C4310700
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		0.700 GeneticVariation disease CLINVAR
CUI: C4310700
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 		0.700 Biomarker disease CTD_human