Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554197721
rs1554197721
NDUFAF4 ; KLHL32
CUI: C4748778
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 		0.800 GeneticVariation UNIPROT NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect. 28853723

2017
dbSNP: rs1554197721
rs1554197721
NDUFAF4 ; KLHL32
CUI: C4748778
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 		0.800 GeneticVariation UNIPROT C6ORF66 is an assembly factor of mitochondrial complex I. 18179882

2008
dbSNP: rs63751061
rs63751061
NDUFAF4 ; KLHL32
CUI: C4748778
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 		0.800 GeneticVariation UNIPROT