Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1239013578
rs1239013578
Entrez Id: 4714
Gene Symbol: NDUFB8
NDUFB8
CUI: C4748839
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 		0.800 GeneticVariation UNIPROT
dbSNP: rs1239013578
rs1239013578
Entrez Id: 4714
Gene Symbol: NDUFB8
NDUFB8
CUI: C4748839
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 		T 0.800 CausalMutation CLINVAR