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: rs199474821
rs199474821
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 in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene. 10371545 1999
dbSNP: rs199474821
rs199474821
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 		C 0.700 CausalMutation CLINVAR Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene. 10371545 1999
dbSNP: rs118192100
rs118192100
Entrez Id: 4508;4509;4513;4514;4537;4566
Gene Symbol: ATP6;ATP8;COX2;COX3;ND3;TRNK
ATP6;ATP8;COX2;COX3;ND3;TRNK
CUI: C0162671
Disease:
MELAS Syndrome 		A 0.700 CausalMutation CLINVAR Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A). 8651277 1996
dbSNP: rs267606883
rs267606883
Entrez Id: 4512;4513
Gene Symbol: COX1;COX2
COX1;COX2
CUI: C0268237
Disease:
Cytochrome-c Oxidase Deficiency 		0.700 GeneticVariation UNIPROT Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient. 16284789 2006
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: C2748884
Disease:
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC 		0.800 GeneticVariation UNIPROT Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes. 19188198 2009
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 Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes. 19188198 2009
dbSNP: rs1057516062
rs1057516062
Entrez Id: 4508;4509;4513;4514;4537
Gene Symbol: ATP6;ATP8;COX2;COX3;ND3
ATP6;ATP8;COX2;COX3;ND3
CUI: C3887709
Disease:
Optic Neuropathy 		C 0.700 GeneticVariation CLINVAR In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes. 28027978 2017
dbSNP: rs199476128
rs199476128
Entrez Id: 4509;4512;4513
Gene Symbol: ATP8;COX1;COX2
ATP8;COX1;COX2
CUI: C0339573
Disease:
Glaucoma, Primary Open Angle 		0.010 GeneticVariation BEFREE However, the POAG case population was found to be enriched in L1c2 haplogroups, which are defined in part by missense mutations m.6150G>A (Val83Ile, odds ratio [OR] 1.8, p=0.01), m.6253C>T (Met117Thr, rs200165736, OR 1.6, p=0.04), and m.6480G>A (Val193Ile, rs199476128, OR 4.6, p=0.04) in the cytochrome c oxidase subunit 1 (MT-CO1) gene and by a variant, m.2220A>G (OR 2.0, p=0.01), in MT-RNR2, which encodes the mitochondrial ribosomal 16s RNA gene. 27217714 2016
dbSNP: rs200165736
rs200165736
Entrez Id: 4512;4513
Gene Symbol: COX1;COX2
COX1;COX2
CUI: C0339573
Disease:
Glaucoma, Primary Open Angle 		0.010 GeneticVariation BEFREE However, the POAG case population was found to be enriched in L1c2 haplogroups, which are defined in part by missense mutations m.6150G>A (Val83Ile, odds ratio [OR] 1.8, p=0.01), m.6253C>T (Met117Thr, rs200165736, OR 1.6, p=0.04), and m.6480G>A (Val193Ile, rs199476128, OR 4.6, p=0.04) in the cytochrome c oxidase subunit 1 (MT-CO1) gene and by a variant, m.2220A>G (OR 2.0, p=0.01), in MT-RNR2, which encodes the mitochondrial ribosomal 16s RNA gene. 27217714 2016
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 Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia. 10577941 1999
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 Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia. 10577941 1999
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 Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene. 10094190 1999
dbSNP: rs118192100
rs118192100
Entrez Id: 4508;4509;4513;4514;4537;4566
Gene Symbol: ATP6;ATP8;COX2;COX3;ND3;TRNK
ATP6;ATP8;COX2;COX3;ND3;TRNK
CUI: C0023264
Disease:
Leigh Disease 		A 0.700 CausalMutation CLINVAR G8363A mutation in the mitochondrial DNA transfer ribonucleic acidLys gene: another cause of Leigh syndrome. 11108511 2000
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
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 Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene. 14605505 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 Demyelinating disease of central and peripheral nervous systems associated with a A8344G mutation in tRNALys. 19269823 2009
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: C0162671
Disease:
MELAS Syndrome 		G 0.700 CausalMutation CLINVAR Clinical spectrum of mitochondrial DNA mutation at base pair 8344. 1678125 1991
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: C0023264
Disease:
Leigh Disease 		G 0.700 CausalMutation CLINVAR Clinical spectrum of mitochondrial DNA mutation at base pair 8344. 1678125 1991
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 Bilateral putaminal necrosis associated with the mitochondrial DNA A8344G myoclonus epilepsy with ragged red fibers (MERRF) mutation: an infantile case. 16551460 2006
dbSNP: rs201336180
rs201336180
Entrez Id: 4508;4509;4513;4514;4537;4539
Gene Symbol: ATP6;ATP8;COX2;COX3;ND3;ND4L
ATP6;ATP8;COX2;COX3;ND3;ND4L
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber 		0.010 GeneticVariation BEFREE Analyses of the complete mtDNA sequences from LHON families with m.11778G-->A narrow the association of disease expression to m.12811T-->C (Y159H) in the NADH dehydrogenase 5 gene (MT-ND5) in haplogroup M7b1'2 and suggest that the specific combination of amino acid changes (A20T-T53I) in the ATP synthase 6 protein (MT-ATP6) caused by m.8584G-->A and m.8684C-->T might account for the beneficial background effect of M8a. 19026397 2008
dbSNP: rs199474817
rs199474817
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 		C 0.700 CausalMutation CLINVAR A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome. 7669057 1995
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 A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment. 10978361 2000
dbSNP: rs199474818
rs199474818
Entrez Id: 4508;4509;4512;4513;4514
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3
ATP6;ATP8;COX1;COX2;COX3
CUI: C0162671
Disease:
MELAS Syndrome 		G 0.700 CausalMutation CLINVAR A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. 8019558 1994
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 		G 0.700 CausalMutation CLINVAR A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. 8019558 1994
dbSNP: rs118192099
rs118192099
Entrez Id: 4508;4509;4513;4514;4537;4566
Gene Symbol: ATP6;ATP8;COX2;COX3;ND3;TRNK
ATP6;ATP8;COX2;COX3;ND3;TRNK
CUI: C0162671
Disease:
MELAS Syndrome 		C 0.700 CausalMutation CLINVAR A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF). 1361099 1992