Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs142248674
rs142248674
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3
CUI: C4748766
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 		0.700 GeneticVariation UNIPROT A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome. 30140060 2018
dbSNP: rs142248674
rs142248674
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3
CUI: C4748766
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 		0.700 GeneticVariation UNIPROT Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. 22499348 2012
dbSNP: rs142248674
rs142248674
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3
CUI: C4748766
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 		0.700 GeneticVariation UNIPROT Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. 14729820 2004