Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748840
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 		0.600 GeneticVariation disease UNIPROT Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency. 30245030 2018
CUI: C4748840
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 		0.600 Biomarker disease GENOMICS_ENGLAND Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency. 30245030 2018
CUI: C4748840
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 		0.600 Biomarker disease GENOMICS_ENGLAND Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency. 30245030 2018
CUI: C4748840
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 		0.600 CausalMutation disease CLINVAR