Source: UNIPROT

Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913661
rs121913661
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
0.800 GeneticVariation UNIPROT Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. 11349233

2001

dbSNP: rs121913659
rs121913659
Leigh Syndrome due to Mitochondrial Complex III Deficiency
0.700 GeneticVariation UNIPROT Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. 10080174

1999

dbSNP: rs121913659
rs121913659
Leigh Syndrome due to Mitochondrial Complex V Deficiency
0.700 GeneticVariation UNIPROT Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. 10080174

1999

dbSNP: rs121913659
rs121913659
Leigh Syndrome Due To Mitochondrial Complex II Deficiency
0.700 GeneticVariation UNIPROT Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. 10080174

1999

dbSNP: rs121913659
rs121913659
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.700 GeneticVariation UNIPROT Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. 10080174

1999

dbSNP: rs121913659
rs121913659
Necrotizing encephalopathy, infantile subacute, of Leigh
0.700 GeneticVariation UNIPROT Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. 10080174

1999

dbSNP: rs121913659
rs121913659
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
0.700 GeneticVariation UNIPROT Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. 10080174

1999

dbSNP: rs121913659
rs121913659
Leigh Syndrome due to Mitochondrial Complex IV Deficiency
0.700 GeneticVariation UNIPROT Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. 10080174

1999

dbSNP: rs121913660
rs121913660
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 GeneticVariation UNIPROT Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. 10080174

1999

dbSNP: rs121913660
rs121913660
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
0.700 GeneticVariation UNIPROT Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. 10080174

1999

dbSNP: rs121913661
rs121913661
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 GeneticVariation UNIPROT Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. 11349233

2001