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: 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
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: 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 Novel A14841G mutation is associated with high penetrance of LHON/C4171A family. 19555656 2009
dbSNP: rs587776435
rs587776435
Entrez Id: 4512;4536;4578
Gene Symbol: COX1;ND2;TRNW
COX1;ND2;TRNW
CUI: C0023264
Disease:
Leigh Disease 		G 0.700 CausalMutation CLINVAR Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNA(Trp) in patients with Leigh syndrome. 19349200 2009
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: 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: 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 Sequence variation in mitochondrial complex I genes: mutation or polymorphism? 15972314 2006
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 The MELAS mutations 3946 and 3949 perturb the critical structure in a conserved loop of the ND1 subunit of mitochondrial complex I. 16849371 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 Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient. 16284789 2006
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 Sequence variation in mitochondrial complex I genes: mutation or polymorphism? 15972314 2006
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: 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 A new mechanism for mtDNA pathogenesis: impairment of post-transcriptional maturation leads to severe depletion of mitochondrial tRNASer(UCN) caused by T7512C and G7497A point mutations. 16199753 2005
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 Mutations of the mitochondrial ND1 gene as a cause of MELAS. 15466014 2004
dbSNP: rs199474672
rs199474672
Entrez Id: 4512;4536;4578
Gene Symbol: COX1;ND2;TRNW
COX1;ND2;TRNW
CUI: C0023264
Disease:
Leigh Disease 		AT 0.700 CausalMutation CLINVAR Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNATrp gene. 12776230 2003
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: rs121434468
rs121434468
Entrez Id: 4512;4535;4536;4565
Gene Symbol: COX1;ND1;ND2;TRNI
COX1;ND1;ND2;TRNI
CUI: C0162671
Disease:
MELAS Syndrome 		A 0.700 GeneticVariation CLINVAR Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations. 11782991 2002
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: 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: 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 Mitochondrial DNA C4171A/ND1 is a novel primary causative mutation of Leber's hereditary optic neuropathy with a good prognosis. 12112111 2002
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: 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: 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