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: rs1554843434
rs1554843434
Entrez Id: 4714;55662
Gene Symbol: NDUFB8;HIF1AN
NDUFB8;HIF1AN
CUI: C4748839
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 		0.800 GeneticVariation UNIPROT NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy. 29429571 2018
dbSNP: rs1554843434
rs1554843434
Entrez Id: 4714;55662
Gene Symbol: NDUFB8;HIF1AN
NDUFB8;HIF1AN
CUI: C4748839
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 		G 0.800 CausalMutation CLINVAR