Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918135
rs121918135
NDUFAF3 ; DALRD3
CUI: C4748790
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 		0.800 GeneticVariation UNIPROT Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome. 27986404

2017
dbSNP: rs121918135
rs121918135
NDUFAF3 ; DALRD3
CUI: C4748790
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 		0.800 GeneticVariation UNIPROT Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. 19463981

2009