COX2, cytochrome c oxidase subunit II, 4513

N. diseases: 875; N. variants: 79
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879053914
rs879053914
Entrez Id: 4512;4513
Gene Symbol: COX1;COX2
COX1;COX2
CUI: C0339573
Disease:
Glaucoma, Primary Open Angle 		0.010 GeneticVariation BEFREE We investigate the function of the V83I polymorphism (m.6150G>A, rs879053914) in the mitochondrial cytochrome c oxidase subunit 1 (MT-CO1) gene and its role in African American (AA) primary open-angle glaucoma (POAG). 29610859 2018
dbSNP: rs118192098
rs118192098
Entrez Id: 4508;4509;4513;4514;4537;4566
Gene Symbol: ATP6;ATP8;COX2;COX3;ND3;TRNK
ATP6;ATP8;COX2;COX3;ND3;TRNK
CUI: C0162672
Disease:
MERRF Syndrome 		G 0.700 CausalMutation CLINVAR Unusual presentations of patients with the mitochondrial MERRF mutation A8344G. 18657354 2008
dbSNP: rs118192104
rs118192104
Entrez Id: 4508;4509;4513;4514;4537;4566
Gene Symbol: ATP6;ATP8;COX2;COX3;ND3;TRNK
ATP6;ATP8;COX2;COX3;ND3;TRNK
CUI: C0162672
Disease:
MERRF Syndrome 		A 0.700 CausalMutation CLINVAR The expanding mutational spectrum of MERRF substitution G8361A in the mitochondrial tRNALys gene. 14681892 2003
dbSNP: rs118192098
rs118192098
Entrez Id: 4508;4509;4513;4514;4537;4566
Gene Symbol: ATP6;ATP8;COX2;COX3;ND3;TRNK
ATP6;ATP8;COX2;COX3;ND3;TRNK
CUI: C0162672
Disease:
MERRF Syndrome 		G 0.700 CausalMutation CLINVAR Spasmodic dysphonia in a patient with the A to G transition at nucleotide 8344 in mitochondrial DNA. 12784281 2003
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: rs118192098
rs118192098
Entrez Id: 4508;4509;4513;4514;4537;4566
Gene Symbol: ATP6;ATP8;COX2;COX3;ND3;TRNK
ATP6;ATP8;COX2;COX3;ND3;TRNK
CUI: C0162672
Disease:
MERRF Syndrome 		G 0.700 CausalMutation CLINVAR Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation. 17293137 2007
dbSNP: rs387906422
rs387906422
Entrez Id: 4508;4509;4513;4514;4537;4539
Gene Symbol: ATP6;ATP8;COX2;COX3;ND3;ND4L
ATP6;ATP8;COX2;COX3;ND3;ND4L
CUI: C1708371
Disease:
Histiocytoid Cardiomyopathy 		C 0.700 CausalMutation CLINVAR Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATPase 6 and 8 protein. 26803244 2016
dbSNP: rs121434458
rs121434458
Entrez Id: 4512;4513;4536;4553
Gene Symbol: COX1;COX2;ND2;TRNA
COX1;COX2;ND2;TRNA
CUI: C0162671
Disease:
MELAS Syndrome 		A 0.700 CausalMutation CLINVAR Pure myopathy associated with a novel mitochondrial tRNA gene mutation. 16476954 2006
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 Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene. 9778262 1998
dbSNP: rs121434458
rs121434458
Entrez Id: 4512;4513;4536;4553
Gene Symbol: COX1;COX2;ND2;TRNA
COX1;COX2;ND2;TRNA
CUI: C0162671
Disease:
MELAS Syndrome 		A 0.700 CausalMutation CLINVAR Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why? 19718780 2009
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: rs118192098
rs118192098
Entrez Id: 4508;4509;4513;4514;4537;4566
Gene Symbol: ATP6;ATP8;COX2;COX3;ND3;TRNK
ATP6;ATP8;COX2;COX3;ND3;TRNK
CUI: C0162672
Disease:
MERRF Syndrome 		G 0.700 CausalMutation CLINVAR Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys. 17200493 2007
dbSNP: rs199474818
rs199474818
Entrez Id: 4508;4509;4512;4513;4514
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3
ATP6;ATP8;COX1;COX2;COX3
CUI: C3151897
Disease:
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 		C 0.700 CausalMutation CLINVAR Mutations at position 7445 in the precursor of mitochondrial tRNA(Ser(UCN)) gene in three maternal Chinese pedigrees with sensorineural hearing loss. 18639500 2008
dbSNP: rs199474818
rs199474818
Entrez Id: 4508;4509;4512;4513;4514
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3
ATP6;ATP8;COX1;COX2;COX3
CUI: C3151897
Disease:
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 		T 0.700 CausalMutation CLINVAR Mutations at position 7445 in the precursor of mitochondrial tRNA(Ser(UCN)) gene in three maternal Chinese pedigrees with sensorineural hearing loss. 18639500 2008
dbSNP: rs199474818
rs199474818
Entrez Id: 4508;4509;4512;4513;4514
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3
ATP6;ATP8;COX1;COX2;COX3
CUI: C3151897
Disease:
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 		C 0.700 CausalMutation CLINVAR Mitochondrial tRNASer(UCN) gene is the hot spot for mutations associated with aminoglycoside-induced and non-syndromic hearing loss. 17659260 2007
dbSNP: rs199474818
rs199474818
Entrez Id: 4508;4509;4512;4513;4514
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3
ATP6;ATP8;COX1;COX2;COX3
CUI: C3151897
Disease:
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 		T 0.700 CausalMutation CLINVAR Mitochondrial tRNASer(UCN) gene is the hot spot for mutations associated with aminoglycoside-induced and non-syndromic hearing loss. 17659260 2007
dbSNP: rs111033319
rs111033319
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 		AC 0.700 CausalMutation CLINVAR Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment. 15292920 2005
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: rs267606883
rs267606883
Entrez Id: 4512;4513
Gene Symbol: COX1;COX2
COX1;COX2
CUI: C0268237
Disease:
Cytochrome-c Oxidase Deficiency 		0.700 GeneticVariation UNIPROT Metabolic consequences of a novel missense mutation of the mtDNA CO I gene. 12140182 2002
dbSNP: rs118192098
rs118192098
Entrez Id: 4508;4509;4513;4514;4537;4566
Gene Symbol: ATP6;ATP8;COX2;COX3;ND3;TRNK
ATP6;ATP8;COX2;COX3;ND3;TRNK
CUI: C0162672
Disease:
MERRF Syndrome 		G 0.700 CausalMutation CLINVAR MERRF syndrome without ragged-red fibers: the need for molecular diagnosis. 17275787 2007
dbSNP: rs199474820
rs199474820
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 		C 0.700 CausalMutation CLINVAR Maternally inherited non-syndromic hearing impairment in a Spanish family with the 7510T>C mutation in the mitochondrial tRNA(Ser(UCN)) gene. 12471220 2002
dbSNP: rs111033319
rs111033319
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 		AC 0.700 CausalMutation CLINVAR Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene. 7581383 1995
dbSNP: rs724159989
rs724159989
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 		C 0.700 CausalMutation CLINVAR Maternally inherited hearing loss is associated with the novel mitochondrial tRNA Ser(UCN) 7505T>C mutation in a Han Chinese family. 20153673 2010