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Entry Name Description Category Pathway Gene
H00891 Combined oxidative phosphorylation deficiency ... severe antenatal-onset infantile disease. The patients with COXPD caused by mutations in mitochondrial translation elongation factor genes (GFM1, GFM2, TUFM, TSFM and C12orf65) have also been reported. Inherited metabolic disorder, Mitochondrial disease (COXPD1) GFM1 [HSA:85476] [KO:K02355]
(COXPD2) MRPS16 [HSA:51021] [KO:K02959]
(COXPD3) TSFM [HSA:10102] [KO:K02357]
(COXPD4) TUFM [HSA:7284] [KO:K02358]
(COXPD5) MRPS22 [HSA:56945] [KO:K17401]
(COXPD6) AIFM1 [HSA:9131] [KO:K04727]
(COXPD7) MTRFR [HSA:91574] [KO:K23498]
(COXPD8) AARS2 [HSA:57505] [KO:K01872]
(COXPD9) MRPL3 [HSA:11222] [KO:K02906]
(COXPD10) MTO1 [HSA:25821] [KO:K03495]
(COXPD11) RMND1 [HSA:55005] [KO:K23499]
(COXPD12) EARS2 [HSA:124454] [KO:K01885]
(COXPD13) PNPT1 [HSA:87178] [KO:K00962]
(COXPD14) FARS2 [HSA:10667] [KO:K01889]
(COXPD15) MTFMT [HSA:123263] [KO:K00604]
(COXPD16) MRPL44 [HSA:65080] [KO:K17425]
(COXPD17) ELAC2 [HSA:60528] [KO:K00784]
(COXPD18) SFXN4 [HSA:119559] [KO:K23502]
(COXPD19) LYRM4 [HSA:57128] [KO:K22069]
(COXPD20) VARS2 [HSA:57176] [KO:K01873]
(COXPD21) TARS2 [HSA:80222] [KO:K01868]
(COXPD22) ATP5F1A [HSA:498] [KO:K02132]
(COXPD23) GTPBP3 [HSA:84705] [KO:K03650]
(COXPD24) NARS2 [HSA:79731] [KO:K01893]
(COXPD25) MARS2 [HSA:92935] [KO:K01874]
(COXPD26) TRMT5 [HSA:57570] [KO:K15429]
(COXPD27) CARS2 [HSA:79587] [KO:K01883]
(COXPD28) SLC25A26 [HSA:115286] [KO:K15111]
(COXPD29) TXN2 [HSA:25828] [KO:K03671]
(COXPD30) TRMT10C [HSA:54931] [KO:K17654]
(COXPD31) MIPEP [HSA:4285] [KO:K01410]
(COXPD32) MRPS34 [HSA:65993] [KO:K17412]
(COXPD33) C1QBP [HSA:708] [KO:K15414]
(COXPD34) MRPS7 [HSA:51081] [KO:K02992]
(COXPD35) TRIT1 [HSA:54802] [KO:K00791]
(COXPD36) MRPS2 [HSA:51116] [KO:K02967]
(COXPD37) MICOS13 [HSA:125988] [KO:K24624]
(COXPD38) MRPS14 [HSA:63931] [KO:K02954]
(COXPD39) GFM2 [HSA:84340] [KO:K02355]
(COXPD40) QRSL1 [HSA:55278] [KO:K02433]
(COXPD41) GATB [HSA:5188] [KO:K02434]
(COXPD42) GATC [HSA:283459] [KO:K02435]
(COXPD43) TIMM22 [HSA:29928] [KO:K17790]
(COXPD44) FASTKD2 [HSA:22868] [KO:K18190]
(COXPD45) MRPL12 [HSA:6182] [KO:K02935]
(COXPD46) MRPS23 [HSA:51649] [KO:K17402]
(COXPD47) MRPS28 [HSA:28957] [KO:K17407]
(COXPD48) NSUN3 [HSA:63899] [KO:K21969]
(COXPD49) MIEF2 [HSA:125170] [KO:K23507]
(COXPD50) MRPS25 [HSA:64432] [KO:K17404]
(COXPD51) PTCD3 [HSA:55037] [KO:K17659]
(COXPD52) NFS1 [HSA:9054] [KO:K04487]
(COXPD53) C2orf69 [HSA:205327]
(COXPD54) PRORP [HSA:9692] [KO:K17655]
(COXPD55) POLRMT [HSA:5442] [KO:K10908]
(COXPD56) TAMM41 [HSA:132001] [KO:K17807]
(COXPD57) CRLS1 [HSA:54675] [KO:K08744]
(COXPD58) TEFM [HSA:79736] [KO:K17658]
(COXPD59) MRPL39 [HSA:54148] [KO:K17420]
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