Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 ×
Source: UNIPROT ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748791
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 		0.600 GeneticVariation disease UNIPROT Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I. 25678554 2015
CUI: C4748791
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 		0.600 GeneticVariation disease UNIPROT High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383 2010
CUI: C4748791
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 		0.600 GeneticVariation disease UNIPROT FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy. 20858599 2010