GUF1, GUF1 homolog, GTPase, 60558

N. diseases: 13; N. variants: 1
Disease: West Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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