Source: UNIPROT

Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894705
rs104894705
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 GeneticVariation UNIPROT Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I. 10360771

1999

dbSNP: rs104894705
rs104894705
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 GeneticVariation UNIPROT Human mitochondrial complex I in health and disease. 10330338

1999

dbSNP: rs104894884
rs104894884
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 GeneticVariation UNIPROT X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. 17262856

2007

dbSNP: rs104894885
rs104894885
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 GeneticVariation UNIPROT X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. 17262856

2007

dbSNP: rs1057519073
rs1057519073
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492

2016

dbSNP: rs1057519084
rs1057519084
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492

2016

dbSNP: rs1057519085
rs1057519085
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492

2016

dbSNP: rs1057519086
rs1057519086
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492

2016

dbSNP: rs118203929
rs118203929
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 GeneticVariation UNIPROT Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease. 18940309

2008

dbSNP: rs121434427
rs121434427
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 GeneticVariation UNIPROT Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy. 11220739

2001

dbSNP: rs121434428
rs121434428
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 GeneticVariation UNIPROT Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy. 11220739

2001

dbSNP: rs121434429
rs121434429
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 GeneticVariation UNIPROT Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy. 11220739

2001

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: 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

dbSNP: rs121918134
rs121918134
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 GeneticVariation UNIPROT Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. 19463981

2009

dbSNP: rs121918135
rs121918135
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 GeneticVariation UNIPROT Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. 19463981

2009

dbSNP: rs137853184
rs137853184
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 GeneticVariation UNIPROT Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1. 22019594

2012

dbSNP: rs137853184
rs137853184
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 GeneticVariation UNIPROT A mitochondrial protein compendium elucidates complex I disease biology. 18614015

2008

dbSNP: rs142609245
rs142609245
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 GeneticVariation UNIPROT A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype. 27091925

2017

dbSNP: rs142609245
rs142609245
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 GeneticVariation UNIPROT Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. 22499348

2012

dbSNP: rs199422224
rs199422224
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

dbSNP: rs199422225
rs199422225
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

dbSNP: rs199476105
rs199476105
ND6
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 GeneticVariation UNIPROT

dbSNP: rs199476109
rs199476109
ND6
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 GeneticVariation UNIPROT High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383

2010

dbSNP: rs199476109
rs199476109
ND6
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 GeneticVariation UNIPROT Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene. 14595656

2003