Combined oxidative phosphorylation deficiency

Disease Term Disease ID Gene Symbol Classification References Source
Combined oxidative phosphorylation defect type 8 319504 AARS2 Causal Pathogenic evidence from ClinVar - ClinVar
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 C3279793 AARS2 Causal Pathogenic evidence from ClinVar 21549344, 22277967, 25058219, 25705216, 27604308, 27839525, 29440775 ClinVar
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 C4015062 ATP5F1A Causal Pathogenic evidence from ClinVar 23596069, 23599390 ClinVar
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 C4540209 C1QBP Causal Pathogenic evidence from ClinVar 28942965 ClinVar
Combined oxidative phosphorylation defect type 27 477774 CARS2 Causal Pathogenic evidence from ClinVar - ClinVar
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27 C4225251 CARS2 Causal Pathogenic evidence from ClinVar 25361775, 25787132, 30139652 ClinVar
Combined oxidative phosphorylation defect type 17 369913 ELAC2 Causal Pathogenic evidence from ClinVar - ClinVar
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 C3809526 ELAC2 Causal Pathogenic evidence from ClinVar 21593607, 23849775, 27769300 ClinVar
Combined oxidative phosphorylation defect type 14 319519 FARS2 Causal Pathogenic evidence from ClinVar - ClinVar
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 C3554168 FARS2 Causal Pathogenic evidence from ClinVar 22499341, 22833457, 24161539, 27095821, 27604308, 27652284, 28043061, 29126765, 30177229 ClinVar
Combined Oxidative Phosphorylation Deficiency 1 C1836797 GFM1 Causal Pathogenic evidence from ClinVar 15537906, 17160893, 21119709, 23430926, 25655951, 26741492, 27604308 ClinVar
NARS2 Causal Pathogenic evidence from ClinVar - ClinVar
Combined oxidative phosphorylation defect type 39 565624 GFM2 Causal Pathogenic evidence from ClinVar - ClinVar
Combined oxidative phosphorylation defect type 23 444013 GTPBP3 Causal Pathogenic evidence from ClinVar - ClinVar
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23 C4015447 GTPBP3 Causal Pathogenic evidence from ClinVar 25434004, 26741492 ClinVar
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 C3810055 LYRM4 Causal Pathogenic evidence from ClinVar 23814038 ClinVar
Combined oxidative phosphorylation defect type 25 447954 MARS2 Causal Pathogenic evidence from ClinVar - ClinVar
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 C4225329 MARS2 Causal Pathogenic evidence from ClinVar 25754315 ClinVar
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 C4310661 MIPEP Causal Pathogenic evidence from ClinVar 25778941, 27799064 ClinVar
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome 478049 MIPEP Causal Pathogenic evidence from ClinVar - ClinVar
Combined oxidative phosphorylation defect type 9 319509 MRPL3 Causal Pathogenic evidence from ClinVar - ClinVar
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9 C3281234 MRPL3 Causal Pathogenic evidence from ClinVar 21786366, 27815843 ClinVar
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36 C4693722 MRPS2 Causal Pathogenic evidence from ClinVar 29576219 ClinVar
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 C4540029 MRPS34 Causal Pathogenic evidence from ClinVar 28777931 ClinVar
EME2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 28777931 -
Combined oxidative phosphorylation defect type 15 319524 MTFMT Causal Pathogenic evidence from ClinVar - ClinVar
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15 C3554182 MTFMT Causal Pathogenic evidence from ClinVar 21907147, 22499348, 23499752, 24123792, 24461907, 25288793, 26633545, 27564080 ClinVar
Combined oxidative phosphorylation defect type 7 254930 MTRFR Causal Pathogenic evidence from ClinVar - ClinVar
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 C3150801 MTRFR Causal Pathogenic evidence from ClinVar 20598281, 24284555, 24424123, 27604308, 27858754 ClinVar
CDK2AP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20598281, 24284555, 27858754 -
Combined oxidative phosphorylation defect type 24 444458 NARS2 Causal Pathogenic evidence from ClinVar - ClinVar
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 C4015643 NARS2 Causal Pathogenic evidence from ClinVar 25385316, 25629079, 25807530 ClinVar
Combined oxidative phosphorylation defect type 13 319514 PNPT1 Causal Pathogenic evidence from ClinVar - ClinVar
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 C3554129 PNPT1 Causal Pathogenic evidence from ClinVar 23084291, 25457163, 26633545, 27604308, 27759031, 31752325 ClinVar
Combined oxidative phosphorylation defect type 11 324535 RMND1 Causal Pathogenic evidence from ClinVar - ClinVar
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 C3554067 RMND1 Causal Pathogenic evidence from ClinVar 23022098, 23022099, 25058219, 25604853, 26238252, 27604308 ClinVar
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 C4225206 SLC25A26 Causal Pathogenic evidence from ClinVar 26522469 ClinVar
Combined oxidative phosphorylation defect type 21 420733 TARS2 Causal Pathogenic evidence from ClinVar - ClinVar
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21 C4014668 TARS2 Causal Pathogenic evidence from ClinVar 24827421, 26811336 ClinVar
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 C4693466 TRIT1 Causal Pathogenic evidence from ClinVar 24901367, 28185376 ClinVar
Combined oxidative phosphorylation defect type 26 477684 TRMT5 Causal Pathogenic evidence from ClinVar - ClinVar
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 C4225290 TRMT5 Causal Pathogenic evidence from ClinVar 26189817, 29021354 ClinVar
Combined oxidative phosphorylation defect type 4 254925 TUFM Causal Pathogenic evidence from ClinVar - ClinVar
Combined Oxidative Phosphorylation Deficiency 4 C1857682 TUFM Causal Pathogenic evidence from ClinVar 17160893, 26741492, 27604308, 28132884 ClinVar
Combined oxidative phosphorylation defect type 29 478029 TXN2 Causal Pathogenic evidence from ClinVar - ClinVar
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 C4225200 TXN2 Causal Pathogenic evidence from ClinVar 26626369 ClinVar
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 C4014660 VARS2 Causal Pathogenic evidence from ClinVar 24827421, 25058219 ClinVar
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 C3151753 AIFM1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 3856385, 20362274, 22019070, 23217327, 26004228, 26173962, 27178839, 27604308 -
Combined Oxidative Phosphorylation Deficiency 2 C1864843 DNAJC9-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 C3554079 EARS2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22492562, 23008233, 24357685, 25655951, 26741492, 26780086, 27604308 -