Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606891
rs267606891
COX3 ; ND3 ; ND4 ; ND4L
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.800 GeneticVariation UNIPROT A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia. 17152068

2007
dbSNP: rs267606891
rs267606891
COX3 ; ND3 ; ND4 ; ND4L
CUI: C4746992
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1 		0.800 GeneticVariation UNIPROT High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383

2010
dbSNP: rs267606891
rs267606891
COX3 ; ND3 ; ND4 ; ND4L
CUI: C4746992
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1 		0.800 GeneticVariation UNIPROT Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene. 11456298

2001
dbSNP: rs267606891
rs267606891
COX3 ; ND3 ; ND4 ; ND4L
CUI: C4746992
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1 		0.800 GeneticVariation UNIPROT De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency. 14705112

2004
dbSNP: rs267606890
rs267606890
COX3 ; ND3 ; ND4 ; ND4L
CUI: C4746992
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1 		0.800 GeneticVariation UNIPROT De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency. 14705112

2004
dbSNP: rs267606890
rs267606890
COX3 ; ND3 ; ND4 ; ND4L
CUI: C4746992
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1 		0.800 GeneticVariation UNIPROT High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383

2010
dbSNP: rs267606890
rs267606890
COX3 ; ND3 ; ND4 ; ND4L
CUI: C4746992
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1 		0.800 GeneticVariation UNIPROT Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene. 11456298

2001
dbSNP: rs200613617
rs200613617
COX3 ; ND3 ; ND4 ; ND4L
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.800 GeneticVariation UNIPROT

dbSNP: rs199476117
rs199476117
COX3 ; ND3 ; ND4 ; ND4L
CUI: C4746992
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1 		0.800 GeneticVariation UNIPROT Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene. 11456298

2001
dbSNP: rs199476117
rs199476117
COX3 ; ND3 ; ND4 ; ND4L
CUI: C4746992
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1 		0.800 GeneticVariation UNIPROT High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383

2010
dbSNP: rs199476117
rs199476117
COX3 ; ND3 ; ND4 ; ND4L
CUI: C4746992
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1 		0.800 GeneticVariation UNIPROT De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency. 14705112

2004
dbSNP: rs267606892
rs267606892
ND3 ; ND4 ; ND4L ; ND5
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.800 GeneticVariation UNIPROT

dbSNP: rs193302933
rs193302933
ND3 ; ND4 ; ND4L ; ND5
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 GeneticVariation UNIPROT

dbSNP: rs199476113
rs199476113
ND4 ; ND4L ; ND5
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.700 GeneticVariation UNIPROT A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I. 1323207

1992