Combined oxidative phosphorylation deficiency

Disease Term Disease ID Gene Symbol References
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 C4015062 ATP5F1A 23596069, 23599390
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 C4540209 C1QBP 28942965
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 C4310661 MIPEP 25778941, 27799064
Combined Oxidative Phosphorylation Deficiency 4 C1857682 TUFM 17160893, 26741492, 28132884, 27604308
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 C3150801 CDK2AP1 20598281, 24284555, 27858754
MTRFR 20598281, 24284555, 27858754, 24424123, 27604308
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 C3151753 AIFM1 27604308, 26173962, 20362274, 22019070, 3856385, 27178839, 26004228, 23217327
Combined Oxidative Phosphorylation Deficiency 3 C1864840 TSFM 25037205, 21119709, 22499341, 17033963, 27604308, 27677415
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 C3554168 FARS2 22499341, 27095821, 27652284, 22833457, 27604308, 29126765, 28043061, 30177229, 24161539
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9 C3281234 MRPL3 21786366, 27815843
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10 C3553529 MTO1 27604308, 25058219, 29331171, 23929671, 22608499, 29440775
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 C4225200 TXN2 26626369
Combined Oxidative Phosphorylation Deficiency 2 C1864843 MRPS16 25655951, 18539099, 15505824, 21169334
DNAJC9-AS1
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 C4693450 MRPS7 25556185
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36 C4693722 MRPS2 29576219
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 C4693466 TRIT1 28185376, 24901367
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 C4310773 TRMT10C 27132592
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 C3554067 RMND1 23022099, 23022098, 25604853, 26238252, 27604308, 25058219
Combined Oxidative Phosphorylation Deficiency 1 C1836797 LXN
NARS2
GFM1 25655951, 21119709, 17160893, 23430926, 26741492, 27604308, 15537906
Combined Oxidative Phosphorylation Deficiency 5 C2673642 MRPS22 28425981, 17873122, 27604308
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 C3810055 LYRM4 23814038
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 C4014660 VARS2 24827421, 25058219
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 C3279793 AARS2 27604308, 25058219, 29440775, 21549344, 25705216, 22277967, 27839525
TMEM151B 25058219, 29440775, 22277967, 21549344, 25705216, 27839525
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 C4225290 TRMT5 26189817, 29021354
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 C3809526 ELAC2 21593607, 27769300, 23849775
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16 C3809339 MRPL44 23315540
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 C4540029 MRPS34 28777931
EME2 28777931
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27 C4225251 CARS2 30139652, 25787132, 25361775
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 C4015643 NARS2 25807530, 25385316, 25629079
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21 C4014668 TARS2 24827421, 26811336
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 C4015447 GTPBP3 25434004, 26741492
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 C3554129 PNPT1 26633545, 23084291, 27604308, 25457163, 27759031, 31752325
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 C4225329 MARS2 25754315
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 C4225206 SLC25A26 26522469
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 C3810001 SFXN4 24119684
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 C3554182 MTFMT 21907147, 24461907, 27564080, 22499348, 26633545, 25288793, 23499752, 24123792
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 C3554079 EARS2 22492562, 27604308, 26780086, 24357685, 25655951, 23008233, 26741492
Combined oxidative phosphorylation defect type 7 254930 MTRFR
Combined oxidative phosphorylation defect type 4 254925 TUFM
Combined oxidative phosphorylation defect type 2 254920 MRPS16
Combined oxidative phosphorylation defect type 11 324535 RMND1
Combined oxidative phosphorylation defect type 14 319519 FARS2
Combined oxidative phosphorylation defect type 15 319524 MTFMT
Combined oxidative phosphorylation defect type 9 319509 MRPL3
Combined oxidative phosphorylation defect type 13 319514 PNPT1
Combined oxidative phosphorylation defect type 8 319504 AARS2
Combined oxidative phosphorylation defect type 17 369913 ELAC2
Combined oxidative phosphorylation defect type 25 447954 MARS2
Combined oxidative phosphorylation defect type 23 444013 GTPBP3
Combined oxidative phosphorylation defect type 24 444458 NARS2
Combined oxidative phosphorylation defect type 20 420728 VARS1
Combined oxidative phosphorylation defect type 21 420733 TARS2
Combined oxidative phosphorylation defect type 29 478029 TXN2
Combined oxidative phosphorylation defect type 30 478042 TRMT10C
Combined oxidative phosphorylation defect type 26 477684 TRMT5
Combined oxidative phosphorylation defect type 27 477774 CARS2
Combined oxidative phosphorylation defect type 39 565624 GFM2
WARS2-related combined oxidative phosphorylation defect 572798 WARS2
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome 478049 MIPEP