GUF1, GUF1 homolog, GTPase, 60558

N. diseases: 13; N. variants: 1
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 40 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310737
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 40
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 40 		0.600 GeneticVariation disease UNIPROT West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1. 26486472 2016
CUI: C4310737
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 40
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 40 		0.600 Biomarker disease GENOMICS_ENGLAND West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1. 26486472 2016
CUI: C4310737
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 40
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 40 		0.600 Biomarker disease GENOMICS_ENGLAND West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1. 26486472 2016
CUI: C4310737
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 40
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 40 		0.600 Biomarker disease CTD_human