Mitochondrial complex deficiency

Disease Term Disease ID Gene Symbol References
MITOCHONDRIAL COMPLEX I DEFICIENCY C1838979 SLC25A10 29211846
ND1 16492986, 10775530
ND2 15781840, 12192017
ND3 14705112
ND4
NDUFA1 19185523, 29272804, 17262856, 27604308, 22644603, 28247337, 21596602
NDUFA6 30245030
NDUFB3 22499348, 27604308, 22277967
NDUFB8 29429571
NDUFB9 22200994
NDUFB10 28040730
NDUFS1 27604308, 25615419, 22644603, 25655951, 20382551
NDUFS2 22644603, 14749350, 15576045, 20819849, 24215330, 27604308
NDUFS3 22499348, 27604308, 19167255
NDUFV1 22644603, 26345448, 10080174, 19073330, 23266820, 27604308, 23562761
NDUFS4 19107570, 11181577, 12616398, 27604308, 22644603, 19364667, 24020637, 25655951, 9463323, 10944442
NDUFS6 27290639, 15372108, 27604308, 22644603, 19259137
NDUFS8 22644603, 22499348
NDUFV2 27604308, 12754703, 22644603, 26008862
NDUFAF3 27604308, 19463981, 22644603
NDUFAF4 27604308, 22644603, 18179882
NDUFA13 25901006
NDUFAF1 17557076, 27604308
TIMMDC1 28604674
NDUFB11 26741492
FOXRED1 20858599, 27604308, 9463323, 22200994, 21203893
TMEM126B 27374773, 27374774
ELAC2 27769300
NDUFAF5 30473481, 22644603, 21607760, 18940309, 27604308
NUBPL 26633545, 20818383, 22644603, 27604308, 23553477
NDUFAF2 22644603, 16200211, 20571988, 27604308, 26795593
NDUFA11 22644603, 27604308, 18306244
NDUFS7 22644603
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 C4748840 NDUFA6 30245030
SMDT1
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 C4748760 NDUFV2
NDUFV2-AS1
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 C4748777 NDUFA11
Mitochondrial Complex II Deficiency C1855008 SDHA 21752896, 27604308, 25494863, 23666964, 15989954, 26259135, 16361598, 21858060, 22972948, 28546994, 24694336, 23174939, 21505157, 25720320, 10746566, 25488574, 20484225, 22955521, 23109135, 27683074, 23612575, 26722403, 22974104, 24781757, 26173966, 25405498, 23043141, 23750034
SDHB 22972948
SDHD 26008905, 24367056, 22972948
SDHAF1 19465911, 26642834, 27604308, 22995659, 26749241, 23322652
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 C3541471 BCS1L 19162478, 22991165, 9878253, 19508421, 27959697, 12910490, 12215968, 17314340, 18628306, 21274865, 11528392, 27604308, 9777342, 17403714
TTC19
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 C3809553 CYC1 23910460
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3 C3554606 UQCRB 18439546, 28604960, 12709789, 23454382
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5 C3554608 UQCRC2 23281071
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 C3554607 UQCRQ 18439546, 27604308
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 C3554605 TTC19 27604308, 21278747
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 C4015253 LBHD1
UQCC3 25008109, 28804536
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 C4014408 UQCC2 24385928
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 C4014440 LYRM7 27151179, 28694194, 26912632, 27564080, 24014394, 29353736
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 C3808899 ATP5F1A 23596069, 23599390
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 C4748269 ATP5F1D 29478781
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 C3279708 ATP5F1E 25954304, 27604308, 20566710
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder) C1852372 BCS1L 17403714
CYC1
UQCRB
UQCRC2
UQCRQ
TTC19
UQCC2
LYRM7
UQCC3
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1 C3275684 ATP6 18055910, 16049925
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1 C4746992 ND3 20818383, 14705112, 11456298
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 C4746984 NDUFA1 17262856
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13 C4748770 NDUFA2 27159321, 18513682
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 C4748809 NDUFA9 22114105, 28671271
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 C4748796 NDUFA10 26741492, 21150889
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 C4748806 NDUFB3 22499348, 27091925
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 C4748839 NDUFB8 29429571, 27290639
HIF1AN
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24 C4748803 NDUFB9 22200994
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 C4748754 NDUFS1 11349233, 19167255, 21458341, 20382551
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6 C4748759 NDUFS2 11220739, 28031252
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 C4748766 NDUFS3 14729820, 19167255, 30140060, 22499348
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 C4748753 NDUFV1 11349233, 10080174
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 C4748767 NDUFS6 15372108, 19259137
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 C4748737 NDUFS8 9837812, 15159508, 22499348
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 C4748790 NDUFAF3 19463981, 27986404
DALRD3
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 C4747517 ACAD9 21057504, 30025539, 17564966, 27604308, 20929961, 23836383, 20816094, 23996478, 25326637, 22499348, 26669660, 28529009, 25929793, 25721401, 26741492
CFAP92
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 C4748778 NDUFAF4 18179882, 28853723
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 C4748827 NDUFA13 25901006
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 C4748769 NDUFAF1 21931170, 17557076
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 C4748838 TIMMDC1 28604674
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30 C4746985 NDUFB11 26741492
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 C4748791 FOXRED1 25678554, 20818383, 20858599
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29 C4748830 TMEM126B 27374774, 27374773
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 C4748799 NDUFA12 27604308, 21617257
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 C4748785 NDUFAF5 21620786, 19542079, 21607760, 18940309
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 C4748792 NUBPL 20818383, 23553477
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1 C3276276 ATPAF2 19933271, 14757859, 27604308
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 C4748768 NDUFAF2 20571988, 20818383
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 C4748826 MTFMT 24461907, 23499752, 22499348
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 C4748786 NDUFAF6 22019594, 18614015, 26741492
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 C4748752 NDUFS7 10360771, 10330338, 15269216