GUF1, GUF1 homolog, GTPase, 60558

N. diseases: 13; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
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
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
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 40
0.600 Biomarker disease CTD_human
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.400 GermlineCausalMutation disease ORPHANET West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1. 26486472 2016
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.400 Biomarker disease HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
0.100 Biomarker phenotype HPO
CUI: C0027066
Disease: Myoclonus
Myoclonus
0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures
0.100 Biomarker phenotype HPO
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis
0.100 Biomarker disease HPO
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.100 Biomarker disease HPO
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia
0.100 Biomarker phenotype HPO
CUI: C1836830
Disease: Developmental regression
Developmental regression
0.100 Biomarker disease HPO
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities
0.100 Biomarker disease HPO
CUI: C4023528
Disease: Abnormality of skin morphology
Abnormality of skin morphology
0.100 Biomarker phenotype HPO
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy
0.100 Biomarker disease HPO
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE
0.100 Biomarker phenotype HPO