COX1, cytochrome c oxidase subunit I, 4512

N. diseases: 421; N. variants: 89
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606884
rs267606884
Entrez Id: 4508;4509;4512;4513;4514
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3
ATP6;ATP8;COX1;COX2;COX3
CUI: C0009402
Disease:
Colorectal Carcinoma
0.800 GeneticVariation UNIPROT A mitochondrial DNA mutation linked to colon cancer results in proton leaks in cytochrome c oxidase. 19218458 2009
dbSNP: rs281865417
rs281865417
Entrez Id: 4512;4513
Gene Symbol: COX1;COX2
COX1;COX2
CUI: C0009402
Disease:
Colorectal Carcinoma
0.800 GeneticVariation UNIPROT A mitochondrial DNA mutation linked to colon cancer results in proton leaks in cytochrome c oxidase. 19218458 2009
dbSNP: rs267606884
rs267606884
Entrez Id: 4508;4509;4512;4513;4514
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3
ATP6;ATP8;COX1;COX2;COX3
CUI: C0009402
Disease:
Colorectal Carcinoma
0.800 GeneticVariation UNIPROT Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission. 16407113 2006
dbSNP: rs281865417
rs281865417
Entrez Id: 4512;4513
Gene Symbol: COX1;COX2
COX1;COX2
CUI: C0009402
Disease:
Colorectal Carcinoma
0.800 GeneticVariation UNIPROT Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission. 16407113 2006
dbSNP: rs199474827
rs199474827
Entrez Id: 4508;4509;4512;4513;4514
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3
ATP6;ATP8;COX1;COX2;COX3
CUI: C0268237
Disease:
Cytochrome-c Oxidase Deficiency
0.800 GeneticVariation UNIPROT A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy. 10486321 1999
dbSNP: rs199476115
rs199476115
Entrez Id: 4512;4536
Gene Symbol: COX1;ND2
COX1;ND2
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber
0.800 GeneticVariation UNIPROT Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy. 1732158 1992
dbSNP: rs199476119
rs199476119
Entrez Id: 4512;4535;4536
Gene Symbol: COX1;ND1;ND2
COX1;ND1;ND2
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber
0.800 GeneticVariation UNIPROT An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. 1417830 1992
dbSNP: rs199476115
rs199476115
Entrez Id: 4512;4536
Gene Symbol: COX1;ND2
COX1;ND2
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber
0.800 GeneticVariation UNIPROT Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. 1900003 1991
dbSNP: rs199476119
rs199476119
Entrez Id: 4512;4535;4536
Gene Symbol: COX1;ND1;ND2
COX1;ND1;ND2
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber
0.800 GeneticVariation UNIPROT Electron transfer properties of NADH:ubiquinone reductase in the ND13460 and the ND411778 mutations of the Leber hereditary optic neuroretinopathy (LHON). 1959619 1991
dbSNP: rs199476119
rs199476119
Entrez Id: 4512;4535;4536
Gene Symbol: COX1;ND1;ND2
COX1;ND1;ND2
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber
0.800 GeneticVariation UNIPROT A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. 1674640 1991
dbSNP: rs199476119
rs199476119
Entrez Id: 4512;4535;4536
Gene Symbol: COX1;ND1;ND2
COX1;ND1;ND2
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber
0.800 GeneticVariation UNIPROT Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. 1928099 1991
dbSNP: rs199476119
rs199476119
Entrez Id: 4512;4535;4536
Gene Symbol: COX1;ND1;ND2
COX1;ND1;ND2
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber
0.800 GeneticVariation UNIPROT Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. 1900003 1991
dbSNP: rs199476119
rs199476119
Entrez Id: 4512;4535;4536
Gene Symbol: COX1;ND1;ND2
COX1;ND1;ND2
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber
0.800 GeneticVariation UNIPROT Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation. 2018041 1991
dbSNP: rs199474827
rs199474827
Entrez Id: 4508;4509;4512;4513;4514
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3
ATP6;ATP8;COX1;COX2;COX3
CUI: C0268237
Disease:
Cytochrome-c Oxidase Deficiency
A 0.800 CausalMutation CLINVAR
dbSNP: rs199476115
rs199476115
Entrez Id: 4512;4536
Gene Symbol: COX1;ND2
COX1;ND2
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber
A 0.800 CausalMutation CLINVAR
dbSNP: rs199476119
rs199476119
Entrez Id: 4512;4535;4536
Gene Symbol: COX1;ND1;ND2
COX1;ND1;ND2
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber
C 0.800 CausalMutation CLINVAR
dbSNP: rs267606884
rs267606884
Entrez Id: 4508;4509;4512;4513;4514
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3
ATP6;ATP8;COX1;COX2;COX3
CUI: C0009402
Disease:
Colorectal Carcinoma
C 0.800 CausalMutation CLINVAR
dbSNP: rs281865417
rs281865417
Entrez Id: 4512;4513
Gene Symbol: COX1;COX2
COX1;COX2
CUI: C0009402
Disease:
Colorectal Carcinoma
A 0.800 CausalMutation CLINVAR
dbSNP: rs786200950
rs786200950
Entrez Id: 4512;4513;4536;4553
Gene Symbol: COX1;COX2;ND2;TRNA
COX1;COX2;ND2;TRNA
CUI: C0162670
Disease:
Mitochondrial Myopathies
A 0.700 CausalMutation CLINVAR Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy. 25873012 2015
dbSNP: rs786200951
rs786200951
Entrez Id: 4512;4513;4536;4553
Gene Symbol: COX1;COX2;ND2;TRNA
COX1;COX2;ND2;TRNA
CUI: C0162670
Disease:
Mitochondrial Myopathies
A 0.700 CausalMutation CLINVAR Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy. 25873012 2015
dbSNP: rs28616230
rs28616230
Entrez Id: 4512;4535;4536
Gene Symbol: COX1;ND1;ND2
COX1;ND1;ND2
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber
A 0.700 GeneticVariation CLINVAR Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions. 24884847 2014
dbSNP: rs28616230
rs28616230
Entrez Id: 4512;4535;4536
Gene Symbol: COX1;ND1;ND2
COX1;ND1;ND2
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber
A 0.700 GeneticVariation CLINVAR Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy. 22879922 2012
dbSNP: rs199476123
rs199476123
Entrez Id: 4512;4535;4536
Gene Symbol: COX1;ND1;ND2
COX1;ND1;ND2
CUI: C0023264
Disease:
Leigh Disease
A 0.700 CausalMutation CLINVAR Respiratory chain complex I deficiency caused by mitochondrial DNA mutations. 21364701 2011
dbSNP: rs1569484151
rs1569484151
Entrez Id: 4508;4509;4512;4513;4514;4574
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3;TRNS1
ATP6;ATP8;COX1;COX2;COX3;TRNS1
CUI: C3151897
Disease:
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
T 0.700 CausalMutation CLINVAR Role of the mitochondrial mutations, m.827A>G and the novel m.7462C>T, in the origin of hearing loss. 20722495 2010
dbSNP: rs387906419
rs387906419
Entrez Id: 4508;4509;4512;4513;4514;4574
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3;TRNS1
ATP6;ATP8;COX1;COX2;COX3;TRNS1
CUI: C0162671
Disease:
MELAS Syndrome
A 0.700 CausalMutation CLINVAR Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations. 20064630 2010