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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:combined oxidative phosphorylation deficiency
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Accession:DOID:0060286 term browser browse the term
Definition:A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction. (DO)
Synonyms:xref: GARD:12893;   OMIM:PS609060
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
combined oxidative phosphorylation deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars2 alanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar NCBI chr 9:17,869,301...17,881,762
Ensembl chr 9:17,869,124...17,880,706
JBrowse link
G Copb2 COPI coat complex subunit beta 2 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar NCBI chr 8:106,582,339...106,603,763 JBrowse link
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar NCBI chr 1:191,997,512...192,025,350
Ensembl chr 1:191,997,512...192,025,350
JBrowse link
G Gfm1 G elongation factor, mitochondrial 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar PMID:21119709 PMID:28216230 PMID:28492532 NCBI chr 2:164,601,575...164,646,478
Ensembl chr 2:164,601,586...164,646,439
JBrowse link
G Mrps16 mitochondrial ribosomal protein S16 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar NCBI chr15:4,351,292...4,353,694
Ensembl chr15:4,351,292...4,353,694
JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar NCBI chr 8:106,604,421...106,617,591
Ensembl chr 8:106,604,379...106,617,597
JBrowse link
G Mto1 mitochondrial tRNA translation optimization 1 ISS OMIM:300816 | OMIM:609060 | OMIM:610498 | OMIM:610505 | OMIM:610678 | OMIM:611719 | OMIM:613559 | OMIM:614096 | OMIM:614582 | OMIM:614702 | OMIM:614922 | OMIM:614924 | OMIM:614932 | OMIM:614946 | OMIM:614947 | OMIM:615395 | OMIM:615440 | OMIM:615578 | OMIM:615595 | OMIM:615917 | OMIM:615918 | OMIM:616045 | OMIM:616198 | OMIM:616239 MouseDO NCBI chr 8:85,807,703...85,832,263
Ensembl chr 8:85,808,125...85,831,937
JBrowse link
G Mtrfr mitochondrial translation release factor in rescue ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar NCBI chr12:37,680,152...37,682,994
Ensembl chr12:37,677,019...37,699,616
JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar NCBI chr 9:17,120,759...17,124,871
Ensembl chr 9:17,120,759...17,124,871
JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar NCBI chr 7:70,311,948...70,319,389
Ensembl chr 7:70,311,950...70,319,346
JBrowse link
G Tufm Tu translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency ClinVar NCBI chr 1:197,903,582...197,907,189
Ensembl chr 1:197,903,582...197,907,189
JBrowse link
combined oxidative phosphorylation deficiency 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfm1 G elongation factor, mitochondrial 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1
ClinVar Annotator: match by OMIM:609060
OMIM
ClinVar
PMID:15537906 PMID:17160893 PMID:21119709 PMID:21986555 PMID:22277967 PMID:24033266 PMID:25326637 PMID:25741868 PMID:25852744 PMID:28216230 PMID:28492532 PMID:31680380 PMID:32313153 NCBI chr 2:164,601,575...164,646,478
Ensembl chr 2:164,601,586...164,646,439
JBrowse link
G Mrpl44 mitochondrial ribosomal protein L44 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 ClinVar PMID:25741868 NCBI chr 9:85,542,763...85,547,814
Ensembl chr 9:85,542,702...85,548,144
JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 ClinVar PMID:25741868 NCBI chr 8:106,604,421...106,617,591
Ensembl chr 8:106,604,379...106,617,597
JBrowse link
G Nars2 asparaginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 ClinVar PMID:25741868 NCBI chr 1:161,922,132...162,035,817
Ensembl chr 1:161,922,141...162,034,700
JBrowse link
G Vars2 valyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 ClinVar PMID:25741868 NCBI chr20:3,588,462...3,599,514
Ensembl chr20:3,588,497...3,599,514
JBrowse link
combined oxidative phosphorylation deficiency 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mto1 mitochondrial tRNA translation optimization 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 10
ClinVar Annotator: match by OMIM:614702
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22608499 PMID:23929671 PMID:24033266 PMID:25058219 PMID:25741868 PMID:25741892 PMID:26061759 PMID:27256614 PMID:28492532 PMID:29331171 PMID:29440775 PMID:30369941 NCBI chr 8:85,807,703...85,832,263
Ensembl chr 8:85,808,125...85,831,937
JBrowse link
combined oxidative phosphorylation deficiency 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rmnd1 required for meiotic nuclear division 1 homolog ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 11
ClinVar Annotator: match by OMIM:614922
OMIM
ClinVar
PMID:18835491 PMID:23022098 PMID:23022099 PMID:24033266 PMID:25058219 PMID:25326635 PMID:25604853 PMID:25741868 PMID:26395190 PMID:27159321 PMID:27350610 PMID:27412952 PMID:27843092 PMID:32576985 NCBI chr 1:40,948,843...40,982,669
Ensembl chr 1:40,948,847...40,972,826
JBrowse link
combined oxidative phosphorylation deficiency 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ears2 glutamyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 12
ClinVar Annotator: match by OMIM:614924
OMIM
ClinVar
PMID:22492562 PMID:23008233 PMID:25741868 PMID:26780086 PMID:26893310 PMID:28492532 PMID:28748214 PMID:28748215 NCBI chr 1:191,997,512...192,025,350
Ensembl chr 1:191,997,512...192,025,350
JBrowse link
combined oxidative phosphorylation deficiency 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpt1 polyribonucleotide nucleotidyltransferase 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 13
ClinVar Annotator: match by OMIM:614932
OMIM
ClinVar
PMID:11080643 PMID:23084291 PMID:24088041 PMID:25326635 PMID:25457163 PMID:25741868 PMID:26633545 PMID:27759031 PMID:28492532 PMID:30046113 PMID:32313153 NCBI chr14:113,530,470...113,561,645
Ensembl chr14:113,530,470...113,561,645
JBrowse link
combined oxidative phosphorylation deficiency 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22499341 PMID:22833457 PMID:24161539 PMID:25558065 PMID:25741868 PMID:25851414 PMID:27095821 PMID:27549011 PMID:27652284 PMID:28043061 PMID:28419689 PMID:28492532 PMID:29126765 PMID:30177229 PMID:30869852 PMID:32007496 NCBI chr17:29,006,981...29,438,906
Ensembl chr17:29,006,988...29,438,668
JBrowse link
G Lyrm4 LYR motif containing 4 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 ClinVar PMID:24161539 PMID:25741868 NCBI chr17:29,439,042...29,552,773
Ensembl chr17:29,438,980...29,552,790
JBrowse link
combined oxidative phosphorylation deficiency 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtfmt mitochondrial methionyl-tRNA formyltransferase ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 15
ClinVar Annotator: match by OMIM:614947
OMIM
ClinVar
PMID:21907147 PMID:22499348 PMID:23499752 PMID:24088041 PMID:24123792 PMID:24461907 PMID:25058219 PMID:25288793 PMID:25326635 PMID:25326637 PMID:25741868 PMID:25911677 PMID:26060307 PMID:26633545 PMID:27290639 PMID:28058511 PMID:28492532 NCBI chr 8:70,952,209...70,986,393
Ensembl chr 8:70,952,203...70,986,408
JBrowse link
combined oxidative phosphorylation deficiency 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrpl44 mitochondrial ribosomal protein L44 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 16
ClinVar Annotator: match by OMIM:615395
OMIM
ClinVar
PMID:23315540 PMID:25326637 PMID:25741868 NCBI chr 9:85,542,763...85,547,814
Ensembl chr 9:85,542,702...85,548,144
JBrowse link
combined oxidative phosphorylation deficiency 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elac2 elaC ribonuclease Z 2 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 17
ClinVar Annotator: match by OMIM:615440
OMIM
ClinVar
PMID:9536098 PMID:10986046 PMID:11175785 PMID:11507049 PMID:11522646 PMID:12515253 PMID:12522685 PMID:15863270 PMID:17576681 PMID:23849775 PMID:24033266 PMID:25326635 PMID:25741868 PMID:27312126 PMID:28492532 PMID:31045291 NCBI chr10:51,478,378...51,501,167
Ensembl chr10:51,478,378...51,501,165
JBrowse link
combined oxidative phosphorylation deficiency 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sfxn4 sideroflexin 4 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 18
ClinVar Annotator: match by OMIM:615578
OMIM
ClinVar
PMID:24119684 PMID:25741868 NCBI chr 1:282,213,610...282,236,851
Ensembl chr 1:282,213,675...282,235,974
JBrowse link
combined oxidative phosphorylation deficiency 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lyrm4 LYR motif containing 4 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 19
ClinVar Annotator: match by OMIM:615595
OMIM
ClinVar
PMID:23814038 PMID:25741868 NCBI chr17:29,439,042...29,552,773
Ensembl chr17:29,438,980...29,552,790
JBrowse link
combined oxidative phosphorylation deficiency 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps16 mitochondrial ribosomal protein S16 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 2 OMIM
ClinVar
PMID:15505824 PMID:25741868 NCBI chr15:4,351,292...4,353,694
Ensembl chr15:4,351,292...4,353,694
JBrowse link
combined oxidative phosphorylation deficiency 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vars2 valyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 20 OMIM
ClinVar
PMID:12345 PMID:24827421 PMID:25058219 PMID:25741868 PMID:27502409 PMID:29314548 PMID:31064326 NCBI chr20:3,588,462...3,599,514
Ensembl chr20:3,588,497...3,599,514
JBrowse link
combined oxidative phosphorylation deficiency 21 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tars2 threonyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 21 OMIM
ClinVar
PMID:24827421 PMID:25741868 NCBI chr 2:197,861,071...197,881,347
Ensembl chr 2:197,861,115...197,878,142
JBrowse link
combined oxidative phosphorylation deficiency 22 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5f1a ATP synthase F1 subunit alpha ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 22 OMIM
ClinVar
PMID:23596069 PMID:25741868 NCBI chr18:74,156,553...74,164,490
Ensembl chr18:74,156,553...74,164,495
JBrowse link
combined oxidative phosphorylation deficiency 23 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gtpbp3 GTP binding protein 3 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 23 OMIM
ClinVar
PMID:25434004 PMID:25741868 PMID:28492532 NCBI chr16:19,897,135...19,902,226
Ensembl chr16:19,896,986...19,902,245
JBrowse link
combined oxidative phosphorylation deficiency 24 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nars2 asparaginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 24 OMIM
ClinVar
PMID:22237560 PMID:25385316 PMID:25629079 PMID:25741868 PMID:25807530 PMID:26467025 PMID:28077841 PMID:30327238 NCBI chr 1:161,922,132...162,035,817
Ensembl chr 1:161,922,141...162,034,700
JBrowse link
combined oxidative phosphorylation deficiency 25 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mars2 methionyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 25 OMIM
ClinVar
PMID:25741868 PMID:25754315 NCBI chr 9:61,823,441...61,826,357
Ensembl chr 9:64,434,904...64,436,664
Ensembl chr 9:64,434,904...64,436,664
JBrowse link
combined oxidative phosphorylation deficiency 26 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trmt5 tRNA methyltransferase 5 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 26 OMIM
ClinVar
PMID:2544623 PMID:25741868 PMID:26189817 PMID:28492532 NCBI chr 6:96,164,579...96,171,680
Ensembl chr 6:96,153,014...96,171,779
JBrowse link
combined oxidative phosphorylation deficiency 27 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cars2 cysteinyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 27
ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27
OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25361775 PMID:25640679 PMID:25741868 PMID:25787132 PMID:28492532 PMID:30139652 NCBI chr16:83,288,613...83,325,706
Ensembl chr16:83,288,664...83,325,699
JBrowse link
combined oxidative phosphorylation deficiency 28 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a26 solute carrier family 25 member 26 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 28 ClinVar
OMIM
PMID:26522469 NCBI chr 4:126,522,335...126,615,402
Ensembl chr 4:126,522,326...126,615,314
JBrowse link
combined oxidative phosphorylation deficiency 29 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Txn2 thioredoxin 2 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 29 ClinVar
OMIM
PMID:25741868 PMID:26626369 NCBI chr 7:119,144,350...119,158,173
Ensembl chr 7:119,144,351...119,158,201
JBrowse link
combined oxidative phosphorylation deficiency 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Avil advillin ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 3 ClinVar NCBI chr 7:70,292,565...70,310,588
Ensembl chr 7:70,292,565...70,310,588
JBrowse link
G Tsfm Ts translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 3
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:17033963 PMID:20435138 PMID:21119709 PMID:21169334 PMID:21741925 PMID:22277967 PMID:22499341 PMID:25037205 PMID:25741868 PMID:28492532 NCBI chr 7:70,311,948...70,319,389
Ensembl chr 7:70,311,950...70,319,346
JBrowse link
combined oxidative phosphorylation deficiency 30 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trmt10c tRNA methyltransferase 10C, mitochondrial RNase P subunit ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 30 ClinVar
OMIM
PMID:25741868 PMID:27132592 NCBI chr11:47,047,342...47,052,420
Ensembl chr11:47,047,342...47,052,418
JBrowse link
combined oxidative phosphorylation deficiency 31 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mipep mitochondrial intermediate peptidase ISO ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 31
ClinVar
OMIM
PMID:24033266 PMID:25741868 PMID:27799064 PMID:28492532 NCBI chr15:41,084,180...41,192,621
Ensembl chr15:41,084,206...41,190,005
JBrowse link
combined oxidative phosphorylation deficiency 32 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eme2 essential meiotic structure-specific endonuclease subunit 2 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 32 ClinVar PMID:25741868 PMID:28492532 PMID:28777931 NCBI chr10:14,253,552...14,257,017
Ensembl chr10:14,254,252...14,256,930
JBrowse link
G Mrps34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 32
ClinVar
OMIM
PMID:2877793 PMID:25741868 PMID:28492532 PMID:28777931 NCBI chr10:14,257,001...14,258,132
Ensembl chr10:14,257,001...14,258,132
JBrowse link
combined oxidative phosphorylation deficiency 33 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qbp complement C1q binding protein ISO ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 ClinVar
OMIM
PMID:28942965 NCBI chr10:57,613,876...57,618,527
Ensembl chr10:57,613,879...57,618,527
JBrowse link
combined oxidative phosphorylation deficiency 34 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps7 mitochondrial ribosomal protein S7 ISO ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 34
ClinVar
OMIM
PMID:9063420 PMID:25556185 PMID:25741868 NCBI chr10:104,155,805...104,158,840
Ensembl chr10:104,155,805...104,158,839
JBrowse link
combined oxidative phosphorylation deficiency 35 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trit1 tRNA isopentenyltransferase 1 ISO ClinVar Annotator: match by term: TRIT1 Deficiency
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 35
ClinVar
OMIM
PMID:24901367 PMID:25741868 PMID:26381753 PMID:28185376 NCBI chr 5:140,711,943...140,756,893
Ensembl chr 5:140,712,583...140,756,085
JBrowse link
combined oxidative phosphorylation deficiency 36 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps2 mitochondrial ribosomal protein S2 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 36 ClinVar
OMIM
PMID:25741868 PMID:29576219 NCBI chr 3:7,051,695...7,056,726
Ensembl chr 3:7,051,695...7,058,521
JBrowse link
combined oxidative phosphorylation deficiency 37 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Micos13 mitochondrial contact site and cristae organizing system subunit 13 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 37 ClinVar
OMIM
PMID:27485409 PMID:27623147 PMID:29618761 NCBI chr 9:10,446,567...10,449,566
Ensembl chr 9:10,446,699...10,449,566
JBrowse link
combined oxidative phosphorylation deficiency 38 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps14 mitochondrial ribosomal protein S14 ISO ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38 ClinVar
OMIM
PMID:30358850 NCBI chr13:77,940,454...77,946,201
Ensembl chr13:77,940,454...77,946,201
JBrowse link
combined oxidative phosphorylation deficiency 39 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfm2 GTP dependent ribosome recycling factor mitochondrial 2 ISO ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 39
ClinVar
OMIM
PMID:22700954 PMID:25741868 PMID:26016410 PMID:29075935 NCBI chr 2:27,949,195...27,984,045
Ensembl chr 2:27,949,208...27,984,256
JBrowse link
combined oxidative phosphorylation deficiency 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tufm Tu translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 4
ClinVar Annotator: match by OMIM:610678
OMIM
ClinVar
PMID:17160893 PMID:25741868 PMID:26741492 PMID:28492532 NCBI chr 1:197,903,582...197,907,189
Ensembl chr 1:197,903,582...197,907,189
JBrowse link
combined oxidative phosphorylation deficiency 40 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Qrsl1 glutaminyl-tRNA amidotransferase subunit QRSL1 ISO ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40 OMIM
ClinVar
PMID:26741492 PMID:29440775 PMID:30283131 NCBI chr20:48,855,839...48,881,112
Ensembl chr20:48,855,914...48,881,119
JBrowse link
combined oxidative phosphorylation deficiency 41 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gatb glutamyl-tRNA amidotransferase subunit B ISO ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41 ClinVar
OMIM
PMID:30283131 NCBI chr 2:184,600,695...184,679,980
Ensembl chr 2:184,600,721...184,679,683
JBrowse link
combined oxidative phosphorylation deficiency 42 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gatc glutamyl-tRNA amidotransferase subunit C ISO ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42 ClinVar
OMIM
PMID:30283131 NCBI chr12:47,031,545...47,039,556
Ensembl chr12:46,989,951...47,039,542
Ensembl chr12:46,989,951...47,039,542
JBrowse link
combined oxidative phosphorylation deficiency 43 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Timm22 translocase of inner mitochondrial membrane 22 ISO ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43 OMIM
ClinVar
PMID:22638997 PMID:30452684 NCBI chr10:64,556,064...64,563,822
Ensembl chr10:64,556,064...64,563,822
JBrowse link
Combined Oxidative Phosphorylation Deficiency 44 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fastkd2 FAST kinase domains 2 ISO ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44 ClinVar
OMIM
PMID:18771761 PMID:25741868 PMID:28499982 PMID:31944455 NCBI chr 9:70,448,386...70,471,420
Ensembl chr 9:70,450,444...70,470,550
JBrowse link
combined oxidative phosphorylation deficiency 45 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrpl12 mitochondrial ribosomal protein L12 ISO ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45 ClinVar
OMIM
PMID:23603806 NCBI chr10:109,658,032...109,662,535
Ensembl chr10:109,658,032...109,662,535
JBrowse link
combined oxidative phosphorylation deficiency 46 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps23 mitochondrial ribosomal protein S23 ISO ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46 ClinVar
OMIM
PMID:26741492 NCBI chr10:75,527,265...75,536,767
Ensembl chr10:75,529,009...75,536,767
JBrowse link
combined oxidative phosphorylation deficiency 47 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps28 mitochondrial ribosomal protein S28 ISO ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47 ClinVar
OMIM
PMID:30566640 NCBI chr 2:95,077,577...95,080,825
Ensembl chr 2:95,045,034...95,173,753
JBrowse link
G Tpd52 tumor protein D52 ISO ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47 ClinVar PMID:30566640 NCBI chr 2:94,959,732...95,041,277
Ensembl chr 2:95,008,311...95,040,514
JBrowse link
combined oxidative phosphorylation deficiency 48 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsun3 NOP2/Sun RNA methyltransferase 3 ISO ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48 OMIM
ClinVar
PMID:27356879 PMID:32671698 NCBI chr11:38,535,971...38,590,274
Ensembl chr11:38,536,165...38,590,107
JBrowse link
combined oxidative phosphorylation deficiency 49 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mief2 mitochondrial elongation factor 2 ISO ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49 OMIM
ClinVar
PMID:29361167 NCBI chr10:46,969,531...46,975,572
Ensembl chr10:46,972,038...46,974,806
JBrowse link
combined oxidative phosphorylation deficiency 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Copb2 COPI coat complex subunit beta 2 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 5 ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:106,582,339...106,603,763 JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 5
ClinVar Annotator: match by OMIM:611719
OMIM
ClinVar
PMID:17873122 PMID:21189481 PMID:25741868 PMID:28492532 PMID:29096039 NCBI chr 8:106,604,421...106,617,591
Ensembl chr 8:106,604,379...106,617,597
JBrowse link
combined oxidative phosphorylation deficiency 50 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps25 mitochondrial ribosomal protein S25 ISO ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50 OMIM
ClinVar
PMID:31039582 NCBI chr 4:124,036,654...124,048,417
Ensembl chr 4:124,036,655...124,048,417
JBrowse link
combined oxidative phosphorylation deficiency 51 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptcd3 Pentatricopeptide repeat domain 3 ISO ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51 ClinVar
OMIM
PMID:30607703 NCBI chr 4:99,795,646...99,822,960
Ensembl chr 4:99,795,656...99,822,992
JBrowse link
combined oxidative phosphorylation deficiency 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:20362274 PMID:22019070 PMID:25583628 PMID:25741868 PMID:26173962 PMID:26467025 PMID:28492532 NCBI chr  X:135,304,063...135,343,062
Ensembl chr  X:135,304,066...135,343,087
JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 6 ClinVar PMID:20362274 PMID:22019070 PMID:25583628 PMID:25741868 PMID:26173962 PMID:26467025 PMID:28492532 NCBI chr  X:135,348,799...135,360,204
Ensembl chr  X:135,348,436...135,360,203
JBrowse link
combined oxidative phosphorylation deficiency 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mphosph9 M-phase phosphoprotein 9 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 ClinVar NCBI chr12:37,700,282...37,766,487
Ensembl chr12:37,702,404...37,768,957
JBrowse link
G Mtrfr mitochondrial translation release factor in rescue ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 7 OMIM
ClinVar
PMID:20598281 PMID:24033266 PMID:24284555 PMID:24424123 PMID:25326635 PMID:25741868 PMID:26539891 PMID:27858754 PMID:28492532 PMID:32581362 NCBI chr12:37,680,152...37,682,994
Ensembl chr12:37,677,019...37,699,616
JBrowse link
combined oxidative phosphorylation deficiency 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars2 alanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 8
ClinVar Annotator: match by OMIM:614096
OMIM
ClinVar
PMID:21549344 PMID:22277967 PMID:24033266 PMID:24808023 PMID:25058219 PMID:25326637 PMID:25705216 PMID:25741868 PMID:27734837 PMID:27749956 PMID:27839525 PMID:28492532 PMID:29440775 PMID:29749055 PMID:30054184 NCBI chr 9:17,869,301...17,881,762
Ensembl chr 9:17,869,124...17,880,706
JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 8 ClinVar PMID:21549344 PMID:22277967 PMID:24033266 PMID:24808023 PMID:25058219 PMID:25326637 PMID:25705216 PMID:25741868 PMID:27734837 PMID:27749956 PMID:27839525 PMID:28492532 PMID:29440775 PMID:29749055 PMID:30054184 NCBI chr 9:17,120,759...17,124,871
Ensembl chr 9:17,120,759...17,124,871
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Fatal infantile mitochondrial cardiomyopathy ClinVar PMID:26008905 NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604
JBrowse link
combined oxidative phosphorylation deficiency 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrpl3 mitochondrial ribosomal protein L3 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 9 OMIM
ClinVar
PMID:21786366 PMID:25741868 PMID:27815843 NCBI chr 8:113,603,533...113,626,893
Ensembl chr 8:113,603,533...113,626,893
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Nutritional and Metabolic Diseases 5213
      disease of metabolism 5213
        mitochondrial metabolism disease 353
          combined oxidative phosphorylation deficiency 59
            Combined Oxidative Phosphorylation Deficiency 44 1
            combined oxidative phosphorylation deficiency 1 5
            combined oxidative phosphorylation deficiency 10 1
            combined oxidative phosphorylation deficiency 11 1
            combined oxidative phosphorylation deficiency 12 1
            combined oxidative phosphorylation deficiency 13 1
            combined oxidative phosphorylation deficiency 14 2
            combined oxidative phosphorylation deficiency 15 1
            combined oxidative phosphorylation deficiency 16 1
            combined oxidative phosphorylation deficiency 17 1
            combined oxidative phosphorylation deficiency 18 1
            combined oxidative phosphorylation deficiency 19 1
            combined oxidative phosphorylation deficiency 2 1
            combined oxidative phosphorylation deficiency 20 1
            combined oxidative phosphorylation deficiency 21 1
            combined oxidative phosphorylation deficiency 22 1
            combined oxidative phosphorylation deficiency 23 1
            combined oxidative phosphorylation deficiency 24 1
            combined oxidative phosphorylation deficiency 25 1
            combined oxidative phosphorylation deficiency 26 1
            combined oxidative phosphorylation deficiency 27 1
            combined oxidative phosphorylation deficiency 28 1
            combined oxidative phosphorylation deficiency 29 1
            combined oxidative phosphorylation deficiency 3 2
            combined oxidative phosphorylation deficiency 30 1
            combined oxidative phosphorylation deficiency 31 1
            combined oxidative phosphorylation deficiency 32 2
            combined oxidative phosphorylation deficiency 33 1
            combined oxidative phosphorylation deficiency 34 1
            combined oxidative phosphorylation deficiency 35 1
            combined oxidative phosphorylation deficiency 36 1
            combined oxidative phosphorylation deficiency 37 1
            combined oxidative phosphorylation deficiency 38 1
            combined oxidative phosphorylation deficiency 39 1
            combined oxidative phosphorylation deficiency 4 1
            combined oxidative phosphorylation deficiency 40 1
            combined oxidative phosphorylation deficiency 41 1
            combined oxidative phosphorylation deficiency 42 1
            combined oxidative phosphorylation deficiency 43 1
            combined oxidative phosphorylation deficiency 45 1
            combined oxidative phosphorylation deficiency 46 1
            combined oxidative phosphorylation deficiency 47 2
            combined oxidative phosphorylation deficiency 48 1
            combined oxidative phosphorylation deficiency 49 1
            combined oxidative phosphorylation deficiency 5 2
            combined oxidative phosphorylation deficiency 50 1
            combined oxidative phosphorylation deficiency 51 1
            combined oxidative phosphorylation deficiency 6 2
            combined oxidative phosphorylation deficiency 7 2
            combined oxidative phosphorylation deficiency 8 3
            combined oxidative phosphorylation deficiency 9 1
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          inherited metabolic disorder 2355
            mitochondrial metabolism disease 353
              combined oxidative phosphorylation deficiency 59
                Combined Oxidative Phosphorylation Deficiency 44 1
                combined oxidative phosphorylation deficiency 1 5
                combined oxidative phosphorylation deficiency 10 1
                combined oxidative phosphorylation deficiency 11 1
                combined oxidative phosphorylation deficiency 12 1
                combined oxidative phosphorylation deficiency 13 1
                combined oxidative phosphorylation deficiency 14 2
                combined oxidative phosphorylation deficiency 15 1
                combined oxidative phosphorylation deficiency 16 1
                combined oxidative phosphorylation deficiency 17 1
                combined oxidative phosphorylation deficiency 18 1
                combined oxidative phosphorylation deficiency 19 1
                combined oxidative phosphorylation deficiency 2 1
                combined oxidative phosphorylation deficiency 20 1
                combined oxidative phosphorylation deficiency 21 1
                combined oxidative phosphorylation deficiency 22 1
                combined oxidative phosphorylation deficiency 23 1
                combined oxidative phosphorylation deficiency 24 1
                combined oxidative phosphorylation deficiency 25 1
                combined oxidative phosphorylation deficiency 26 1
                combined oxidative phosphorylation deficiency 27 1
                combined oxidative phosphorylation deficiency 28 1
                combined oxidative phosphorylation deficiency 29 1
                combined oxidative phosphorylation deficiency 3 2
                combined oxidative phosphorylation deficiency 30 1
                combined oxidative phosphorylation deficiency 31 1
                combined oxidative phosphorylation deficiency 32 2
                combined oxidative phosphorylation deficiency 33 1
                combined oxidative phosphorylation deficiency 34 1
                combined oxidative phosphorylation deficiency 35 1
                combined oxidative phosphorylation deficiency 36 1
                combined oxidative phosphorylation deficiency 37 1
                combined oxidative phosphorylation deficiency 38 1
                combined oxidative phosphorylation deficiency 39 1
                combined oxidative phosphorylation deficiency 4 1
                combined oxidative phosphorylation deficiency 40 1
                combined oxidative phosphorylation deficiency 41 1
                combined oxidative phosphorylation deficiency 42 1
                combined oxidative phosphorylation deficiency 43 1
                combined oxidative phosphorylation deficiency 45 1
                combined oxidative phosphorylation deficiency 46 1
                combined oxidative phosphorylation deficiency 47 2
                combined oxidative phosphorylation deficiency 48 1
                combined oxidative phosphorylation deficiency 49 1
                combined oxidative phosphorylation deficiency 5 2
                combined oxidative phosphorylation deficiency 50 1
                combined oxidative phosphorylation deficiency 51 1
                combined oxidative phosphorylation deficiency 6 2
                combined oxidative phosphorylation deficiency 7 2
                combined oxidative phosphorylation deficiency 8 3
                combined oxidative phosphorylation deficiency 9 1
paths to the root