Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 137682
Gene Symbol: NDUFAF6
NDUFAF6
CUI: C4748786
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 		0.400 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492

2016
Entrez Id: 137682
Gene Symbol: NDUFAF6
NDUFAF6
CUI: C4748786
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 		0.400 GeneticVariation UNIPROT Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1. 22019594

2011
Entrez Id: 137682
Gene Symbol: NDUFAF6
NDUFAF6
CUI: C4748786
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 		0.400 GeneticVariation UNIPROT A mitochondrial protein compendium elucidates complex I disease biology. 18614015

2008