Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748769
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 		0.600 GeneticVariation disease UNIPROT Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy. 21931170 2011
CUI: C4748769
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 		0.600 GeneticVariation disease UNIPROT Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease. 17557076 2007
CUI: C4748769
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C4748769
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 		0.600 CausalMutation disease CLINVAR