Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554076309
rs1554076309
Entrez Id: 1161;91942
Gene Symbol: ERCC8;NDUFAF2
ERCC8;NDUFAF2
CUI: C4748768
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 		A 0.700 CausalMutation CLINVAR Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect. 20571988 2010