Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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: Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency
ClinVar Annotator: match by term: Mitochondrial complex IV deficiency
ClinVar
MouseDO
PMID:12928484, 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: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: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, PMID:30311386 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 OMIM:220110
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: 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:16326995, PMID:18924171, PMID:23643385, PMID:25741868, PMID:25959673, PMID:28492532, PMID:30311386 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: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 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 PMID:23643385, PMID:25741868, 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 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: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, PMID:30311386 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 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 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 Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 ClinVar 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 ClinVar
OMIM
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: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 ClinVar
OMIM
PMID:23746447 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 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 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
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        inherited metabolic disorder 2237
          cytochrome-c oxidase deficiency disease 30
            French Canadian Leigh disease 2
            Mitochondrial Complex IV Deficiency, Nuclear Type 1 4
            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 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
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            mitochondrial metabolism disease 345
              cytochrome-c oxidase deficiency disease 30
                French Canadian Leigh disease 2
                Mitochondrial Complex IV Deficiency, Nuclear Type 1 4
                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 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
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.