Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748790
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 		0.600 GeneticVariation disease UNIPROT Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome. 27986404 2017
CUI: C4748790
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 		0.600 GeneticVariation disease UNIPROT Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. 19463981 2009
CUI: C4748790
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 		0.600 CausalMutation disease CLINVAR
CUI: C4748790
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 		0.600 Biomarker disease GENOMICS_ENGLAND