Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 91942
Gene Symbol: NDUFAF2
NDUFAF2
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.420 CausalMutation CLINVAR High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383

2010
Entrez Id: 91942
Gene Symbol: NDUFAF2
NDUFAF2
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.420 CausalMutation CLINVAR A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. 16200211

2005