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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:cytochrome-c oxidase deficiency disease
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Accession:DOID:3762 term browser browse the term
Definition:A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation. (DO)
Synonyms:exact_synonym: Complex IV Deficiency;   Cox Deficiencies;   Cox Deficiency;   Cytochrome Oxidase Deficiencies;   Cytochrome Oxidase Deficiency;   Cytochrome c Oxidase I Deficiency;   complex IV deficiencies;   cytochrome-c oxidase deficiencies;   cytochrome-c oxidase deficiency;   early-onset hepatic failure and neurologic disorder due to cytochrome c oxidase deficiency;   lethal neonatal hypertrophic cardiomyopathy due to cytochrome c oxidase deficiency;   mitochondrial complex IV deficiency;   mitochondrial cytochrome c oxidase deficiency
 narrow_synonym: sensorineural deafness with neurologic features
 primary_id: MESH:D030401
 xref: NCI:C98910;   OMIM:PS220110
For additional species annotation, visit the Alliance of Genome Resources.

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cytochrome-c oxidase deficiency disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coa3 cytochrome C oxidase assembly factor 3 ISO ClinVar Annotator: match by term: Mitochondrial complex IV deficiency ClinVar PMID:25604084 NCBI chr10:89,198,750...89,199,731
Ensembl chr10:89,198,749...89,199,736 		JBrowse link
G Coa8 cytochrome c oxidase assembly factor 8 ISO ClinVar Annotator: match by OMIM:220110
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency		 ClinVar PMID:25175347 PMID:25741868 NCBI chr 6:136,185,772...136,210,936
NCBI chr 6:136,279,476...136,304,317
Ensembl chr 6:136,185,487...136,210,940
Ensembl chr 6:136,185,487...136,210,940 		JBrowse link
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO
ISS		 ClinVar Annotator: match by OMIM:220110
ClinVar Annotator: match by term: Mitochondrial complex IV deficiency
ClinVar Annotator: match by term: Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency		 ClinVar
MouseDO		 PMID:9536098 PMID:12928484 PMID:17576681 PMID:23814038 PMID:25741868 PMID:28492532 PMID:32313153 NCBI chr10:50,439,778...50,563,920
Ensembl chr10:50,439,782...50,574,539 		JBrowse link
G Cox15 cytochrome c oxidase assembly homolog COX15 ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency ClinVar NCBI chr 1:263,494,850...263,511,510
Ensembl chr 1:263,494,852...263,511,505 		JBrowse link
G Cox20 cytochrome c oxidase assembly factor COX20 ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency ClinVar PMID:25741868 NCBI chr13:96,219,853...96,224,023
Ensembl chr13:96,219,853...96,224,023 		JBrowse link
G Cox6b1 cytochrome c oxidase subunit 6B1 ISO ClinVar Annotator: match by OMIM:220110
ClinVar Annotator: match by term: Mitochondrial complex IV deficiency		 ClinVar PMID:18499082 PMID:24781756 PMID:25741868 PMID:28492532 NCBI chr 1:89,075,987...89,084,834
Ensembl chr 1:89,075,975...89,084,859
Ensembl chr 2:89,075,975...89,084,859 		JBrowse link
G Cox8a cytochrome c oxidase subunit 8A ISO ClinVar Annotator: match by term: Mitochondrial complex IV deficiency ClinVar PMID:25741868 PMID:26685157 NCBI chr 1:222,466,575...222,468,896
Ensembl chr 1:222,466,575...222,468,896 		JBrowse link
G Cpo carboxypeptidase O ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency ClinVar NCBI chr 9:70,603,023...70,641,290 JBrowse link
G Cutc cutC copper transporter ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency ClinVar NCBI chr 1:263,511,537...263,526,308
Ensembl chr 1:263,511,537...263,526,307 		JBrowse link
G Entpd7 ectonucleoside triphosphate diphosphohydrolase 7 ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency ClinVar NCBI chr 1:263,448,633...263,490,308
Ensembl chr 1:263,448,633...263,490,308
Ensembl chr 1:263,448,633...263,490,308 		JBrowse link
G Fastkd2 FAST kinase domains 2 ISO ClinVar Annotator: match by OMIM:220110
ClinVar Annotator: match by term: Mitochondrial complex IV deficiency
ClinVar Annotator: match by term: Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency		 ClinVar PMID:18771761 PMID:25326635 PMID:25497598 PMID:25741868 PMID:25842391 PMID:28492532 NCBI chr 9:70,448,386...70,471,420
Ensembl chr 9:70,450,444...70,470,550 		JBrowse link
G Lrpprc leucine-rich pentatricopeptide repeat containing ISO RGD PMID:12529507 RGD:1600676 NCBI chr 6:7,984,043...8,066,874
Ensembl chr 6:7,984,019...8,066,868 		JBrowse link
G Mdh1b malate dehydrogenase 1B ISO ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency ClinVar NCBI chr 9:70,403,612...70,450,204
Ensembl chr 9:70,404,093...70,450,170 		JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Cytochrome c oxidase i deficiency		 ClinVar PMID:9832034 PMID:10441567 PMID:12140182 PMID:16284789 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867 		JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency		 ClinVar PMID:10205264 PMID:10486321 PMID:11471180 PMID:11558799 NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689 		JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by null ClinVar PMID:8630495 PMID:9634511 PMID:11063732 PMID:12414820 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382 		JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: Mitochondrial complex IV deficiency
ClinVar Annotator: match by term: Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency		 ClinVar PMID:23643385 PMID:25741868 PMID:25959673 PMID:28492532 NCBI chr 7:130,326,597...130,343,655
Ensembl chr 7:130,326,600...130,342,493 		JBrowse link
G Pet100 PET100 cytochrome c oxidase chaperone ISO ClinVar Annotator: match by term: Mitochondrial complex IV deficiency ClinVar PMID:24462369 PMID:25293719 PMID:25741868 PMID:32313153 NCBI chr12:2,170,630...2,173,259
Ensembl chr12:2,170,630...2,173,251 		JBrowse link
G Sco1 synthesis of cytochrome C oxidase 1 ISO
ISS		 ClinVar Annotator: match by OMIM:220110
ClinVar Annotator: match by term: Mitochondrial complex IV deficiency
ClinVar Annotator: match by term: Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency		 ClinVar
MouseDO		 PMID:25741868 PMID:28492532 NCBI chr10:53,595,854...53,608,437
Ensembl chr10:53,595,854...53,608,435 		JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial complex IV deficiency		 CTD
ClinVar		 PMID:9837813 PMID:9843204 PMID:10636738 PMID:10647889 PMID:10746561 PMID:15214016 PMID:21937992 PMID:23829769 PMID:25741868 NCBI chr 3:5,461,717...5,464,560
Ensembl chr 3:4,869,795...4,872,632 		JBrowse link
G Taco1 translational activator of cytochrome c oxidase I ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial complex IV deficiency
ClinVar Annotator: match by term: Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency
ClinVar Annotator: match by OMIM:220110		 CTD
ClinVar		 PMID:19503089 PMID:20727754 PMID:25741868 PMID:28492532 NCBI chr10:94,260,148...94,268,276
Ensembl chr10:94,260,197...94,268,222 		JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: Mitochondrial complex IV deficiency
ClinVar Annotator: match by term: Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency
ClinVar Annotator: match by term: Cytochrome-c oxidase deficiency		 ClinVar PMID:12529715 PMID:23643385 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587 		JBrowse link
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency ClinVar PMID:10545952 PMID:10749987 PMID:11673586 PMID:12020273 PMID:14970747 PMID:14994243 PMID:15210538 PMID:16326995 PMID:18924171 PMID:19879173 PMID:23643385 PMID:25741868 PMID:25959673 PMID:28492532 NCBI chr 7:130,326,597...130,343,655
Ensembl chr 7:130,326,600...130,342,493 		JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency ClinVar PMID:10545952 PMID:12529715 PMID:15210538 PMID:19879173 PMID:23643385 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587 		JBrowse link
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coa5 cytochrome C oxidase assembly factor 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:44,011,471...44,024,876
Ensembl chr 9:44,011,471...44,024,876 		JBrowse link
G Coa6 cytochrome c oxidase assembly factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:59,327,328...59,333,706
Ensembl chr19:59,328,960...59,331,192 		JBrowse link
G Cox15 cytochrome c oxidase assembly homolog COX15 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:263,494,850...263,511,510
Ensembl chr 1:263,494,852...263,511,505 		JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 1 ClinVar PMID:23643385 PMID:25741868 PMID:28492532 NCBI chr 7:130,326,597...130,343,655
Ensembl chr 7:130,326,600...130,342,493 		JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 1
ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2		 ClinVar PMID:12529715 PMID:23643385 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587 		JBrowse link
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox15 cytochrome c oxidase assembly homolog COX15 ISO ClinVar Annotator: match by OMIM:615119
ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2		 ClinVar
OMIM		 PMID:2175025 PMID:12474143 PMID:15235026 PMID:15863660 PMID:21412973 PMID:22310368 PMID:25741868 PMID:26959537 PMID:28492532 PMID:32232962 NCBI chr 1:263,494,850...263,511,510
Ensembl chr 1:263,494,852...263,511,505 		JBrowse link
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coa5 cytochrome C oxidase assembly factor 5 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 ClinVar
OMIM		 PMID:21457908 NCBI chr 9:44,011,471...44,024,876
Ensembl chr 9:44,011,471...44,024,876 		JBrowse link
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coa6 cytochrome c oxidase assembly factor 6 ISO ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 ClinVar
OMIM		 PMID:22277967 PMID:24549041 PMID:25339201 PMID:25959673 PMID:26160915 NCBI chr19:59,327,328...59,333,706
Ensembl chr19:59,328,960...59,331,192 		JBrowse link
French Canadian Leigh disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrpprc leucine-rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5
ClinVar Annotator: match by term: Cytochrome c oxidase deficiency, French Canadian type
ClinVar Annotator: match by term: Leigh syndrome, French Canadian type
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:220111		 OMIM
ClinVar
CTD		 PMID:12529507 PMID:15139850 PMID:16199547 PMID:17050673 PMID:18414213 PMID:20200222 PMID:21266382 PMID:21437181 PMID:22494076 PMID:24033266 PMID:25741868 PMID:26510951 PMID:26741492 PMID:27408822 PMID:27574110 PMID:28492532 PMID:29152527 NCBI chr 6:7,984,043...8,066,874
Ensembl chr 6:7,984,019...8,066,868 		JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16326995 NCBI chr 3:5,461,717...5,464,560
Ensembl chr 3:4,869,795...4,872,632 		JBrowse link
Mitochondrial Complex IV Deficiency, Nuclear Type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coa8 cytochrome c oxidase assembly factor 8 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:25175347 NCBI chr 6:136,185,772...136,210,936
NCBI chr 6:136,279,476...136,304,317
Ensembl chr 6:136,185,487...136,210,940
Ensembl chr 6:136,185,487...136,210,940 		JBrowse link
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:12928484 PMID:25741868 PMID:32313153 NCBI chr10:50,439,778...50,563,920
Ensembl chr10:50,439,782...50,574,539 		JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:8630495 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382 		JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:23643385 PMID:25741868 PMID:28492532 NCBI chr 7:130,326,597...130,343,655
Ensembl chr 7:130,326,600...130,342,493 		JBrowse link
G Pet100 PET100 cytochrome c oxidase chaperone ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:24462369 PMID:25293719 PMID:25741868 PMID:32313153 NCBI chr12:2,170,630...2,173,259
Ensembl chr12:2,170,630...2,173,251 		JBrowse link
G Surf1 SURF1, cytochrome c oxidase assembly factor ISO OMIM NCBI chr 3:5,461,717...5,464,560
Ensembl chr 3:4,869,795...4,872,632 		JBrowse link
G Taco1 translational activator of cytochrome c oxidase I ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:19503089 PMID:20727754 PMID:25741868 NCBI chr10:94,260,148...94,268,276
Ensembl chr10:94,260,197...94,268,222 		JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar PMID:12529715 PMID:23643385 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587 		JBrowse link
Mitochondrial Complex IV Deficiency, Nuclear Type 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox14 cytochrome c oxidase assembly factor COX14 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10 ClinVar
OMIM		 PMID:22243966 NCBI chr 7:141,378,537...141,380,960
Ensembl chr 7:141,380,322...141,380,495 		JBrowse link
Mitochondrial Complex IV Deficiency, Nuclear Type 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox20 cytochrome c oxidase assembly factor COX20 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11 ClinVar
OMIM		 PMID:23125284 PMID:24202787 NCBI chr13:96,219,853...96,224,023
Ensembl chr13:96,219,853...96,224,023 		JBrowse link
Mitochondrial Complex IV Deficiency, Nuclear Type 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pet100 PET100 cytochrome c oxidase chaperone ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 ClinVar
OMIM		 PMID:24462369 PMID:25293719 PMID:25741868 PMID:32313153 NCBI chr12:2,170,630...2,173,259
Ensembl chr12:2,170,630...2,173,251 		JBrowse link
Mitochondrial Complex IV Deficiency, Nuclear Type 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coa3 cytochrome C oxidase assembly factor 3 ISO OMIM NCBI chr10:89,198,750...89,199,731
Ensembl chr10:89,198,749...89,199,736 		JBrowse link
Mitochondrial Complex IV Deficiency, Nuclear Type 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox8a cytochrome c oxidase subunit 8A ISO OMIM NCBI chr 1:222,466,575...222,468,896
Ensembl chr 1:222,466,575...222,468,896 		JBrowse link
Mitochondrial Complex IV Deficiency, Nuclear Type 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox4i1 cytochrome c oxidase subunit 4i1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 ClinVar
OMIM		 PMID:31290619 NCBI chr19:54,245,958...54,252,198
Ensembl chr19:54,245,950...54,252,225 		JBrowse link
Mitochondrial Complex IV Deficiency, Nuclear Type 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coa8 cytochrome c oxidase assembly factor 8 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar
OMIM		 PMID:25175347 NCBI chr 6:136,185,772...136,210,936
NCBI chr 6:136,279,476...136,304,317
Ensembl chr 6:136,185,487...136,210,940
Ensembl chr 6:136,185,487...136,210,940 		JBrowse link
Mitochondrial Complex IV Deficiency, Nuclear Type 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox6a2 cytochrome c oxidase subunit 6A2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18 OMIM
ClinVar		 PMID:25741868 PMID:31155743 NCBI chr 1:199,624,037...199,626,255
Ensembl chr 1:199,624,037...199,624,783 		JBrowse link
Mitochondrial Complex IV Deficiency, Nuclear Type 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat14 lysine acetyltransferase 14 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19 ClinVar PMID:25741868 PMID:28386624 NCBI chr 3:138,508,899...138,549,437
Ensembl chr 3:138,504,214...138,549,437 		JBrowse link
Mitochondrial Complex IV Deficiency, Nuclear Type 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox5a cytochrome c oxidase subunit 5A ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20 ClinVar
OMIM		 PMID:28247525 NCBI chr 8:62,298,358...62,309,765
Ensembl chr 8:62,298,358...62,309,765 		JBrowse link
Mitochondrial Complex IV Deficiency, Nuclear Type 21 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufa4 NDUFA4, mitochondrial complex associated ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21 OMIM
ClinVar		 NCBI chr 4:38,233,680...38,240,848
Ensembl chr 4:38,233,680...38,240,848 		JBrowse link
Mitochondrial Complex IV Deficiency, Nuclear Type 22 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox16 cytochrome c oxidase assembly factor COX16 ISO OMIM NCBI chr 6:105,195,387...105,214,366
Ensembl chr 6:105,201,395...105,214,329 		JBrowse link
Mitochondrial Complex IV Deficiency, Nuclear Type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 ClinVar
OMIM		 PMID:10767350 PMID:12928484 PMID:15455402 PMID:25741868 PMID:32313153 NCBI chr10:50,439,778...50,563,920
Ensembl chr10:50,439,782...50,574,539 		JBrowse link
Mitochondrial Complex IV Deficiency, Nuclear Type 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sco1 synthesis of cytochrome C oxidase 1 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4 ClinVar
OMIM		 PMID:11013136 PMID:19295170 PMID:25741868 NCBI chr10:53,595,854...53,608,437
Ensembl chr10:53,595,854...53,608,435 		JBrowse link
Mitochondrial Complex IV Deficiency, Nuclear Type 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox6b1 cytochrome c oxidase subunit 6B1 ISO OMIM NCBI chr 1:89,075,987...89,084,834
Ensembl chr 1:89,075,975...89,084,859
Ensembl chr 2:89,075,975...89,084,859 		JBrowse link
Mitochondrial Complex IV Deficiency, Nuclear Type 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Taco1 translational activator of cytochrome c oxidase I ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8 ClinVar
OMIM		 PMID:19503089 PMID:20727754 PMID:25044680 PMID:25741868 NCBI chr10:94,260,148...94,268,276
Ensembl chr10:94,260,197...94,268,222 		JBrowse link
Term paths to the root
Path 1
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  disease 17129
    Nutritional and Metabolic Diseases 5514
      disease of metabolism 5514
        inherited metabolic disorder 2607
          cytochrome-c oxidase deficiency disease 31
            French Canadian Leigh disease 2
            Mitochondrial Complex IV Deficiency, Nuclear Type 1 8
            Mitochondrial Complex IV Deficiency, Nuclear Type 10 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 11 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 12 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 14 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 15 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 16 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 17 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 18 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 19 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 20 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 21 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 22 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 3 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 4 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 7 1
            Mitochondrial Complex IV Deficiency, Nuclear Type 8 1
            fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency + 5
Path 2
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  disease 17129
    Developmental Disease 10897
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9431
        genetic disease 8941
          inherited metabolic disorder 2607
            mitochondrial metabolism disease 389
              cytochrome-c oxidase deficiency disease 31
                French Canadian Leigh disease 2
                Mitochondrial Complex IV Deficiency, Nuclear Type 1 8
                Mitochondrial Complex IV Deficiency, Nuclear Type 10 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 11 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 12 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 14 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 15 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 16 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 17 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 18 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 19 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 20 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 21 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 22 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 3 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 4 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 7 1
                Mitochondrial Complex IV Deficiency, Nuclear Type 8 1
                fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency + 5
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