Mitochondrial complex deficiency

Disease Term Disease ID Gene Symbol Classification References Source
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 C4748766 NDUFS3 Causal Pathogenic evidence from ClinVar 14729820, 19167255, 22499348, 30140060 ClinVar
MITOCHONDRIAL COMPLEX I DEFICIENCY C1838979 NDUFS4 Causal Pathogenic evidence from ClinVar 9463323, 10944442, 11181577, 12616398, 19107570, 19364667, 22644603, 24020637, 25655951, 27604308 ClinVar
NDUFS6 Causal Pathogenic evidence from ClinVar 15372108, 19259137, 22644603, 27290639, 27604308 ClinVar
NDUFS7 Causal Pathogenic evidence from ClinVar 22644603 ClinVar
NDUFS8 Causal Pathogenic evidence from ClinVar 22499348, 22644603 ClinVar
NDUFV1 Causal Pathogenic evidence from ClinVar 10080174, 19073330, 22644603, 23266820, 23562761, 26345448, 27604308 ClinVar
NDUFV2 Causal Pathogenic evidence from ClinVar 12754703, 22644603, 26008862, 27604308 ClinVar
NUBPL Causal Pathogenic evidence from ClinVar 20818383, 22644603, 23553477, 26633545, 27604308 ClinVar
SLC25A10 Causal Pathogenic evidence from ClinVar 29211846 ClinVar
TIMMDC1 Causal Pathogenic evidence from ClinVar 28604674 ClinVar
TMEM126B Causal Pathogenic evidence from ClinVar 27374773, 27374774 ClinVar
ELAC2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27769300 -
ND1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10775530, 16492986 -
ND2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12192017, 15781840 -
ND3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 14705112 -
ND4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 C4748767 NDUFS6 Causal Pathogenic evidence from ClinVar 15372108, 19259137 ClinVar
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 C4748752 NDUFS7 Causal Pathogenic evidence from ClinVar 10330338, 10360771, 15269216 ClinVar
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 C4748737 NDUFS8 Causal Pathogenic evidence from ClinVar 9837812, 15159508, 22499348 ClinVar
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 C4748753 NDUFV1 Causal Pathogenic evidence from ClinVar 10080174, 11349233 ClinVar
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 C4748760 NDUFV2 Causal Pathogenic evidence from ClinVar - ClinVar
NDUFV2-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 C4748792 NUBPL Causal Pathogenic evidence from ClinVar 20818383, 23553477 ClinVar
Mitochondrial Complex II Deficiency C1855008 SDHA Causal Pathogenic evidence from ClinVar 10746566, 15989954, 16361598, 20484225, 21505157, 21752896, 21858060, 22955521, 22972948, 22974104, 23043141, 23109135, 23174939, 23612575, 23666964, 23750034, 24694336, 24781757, 25405498, 25488574, 25494863, 25720320, 26173966, 26259135, 26722403, 27604308, 27683074, 28546994 ClinVar
SDHAF1 Causal Pathogenic evidence from ClinVar 19465911, 22995659, 23322652, 26642834, 26749241, 27604308 ClinVar
SDHD Causal Pathogenic evidence from ClinVar 22972948, 24367056, 26008905 ClinVar
SDHB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22972948 -
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 C4748838 TIMMDC1 Causal Pathogenic evidence from ClinVar 28604674 ClinVar
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29 C4748830 TMEM126B Causal Pathogenic evidence from ClinVar 27374773, 27374774 ClinVar
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder) C1852372 TTC19 Causal Pathogenic evidence from ClinVar - ClinVar
UQCC2 Causal Pathogenic evidence from ClinVar - ClinVar
UQCC3 Causal Pathogenic evidence from ClinVar - ClinVar
UQCRC2 Causal Pathogenic evidence from ClinVar - ClinVar
UQCRQ Causal Pathogenic evidence from ClinVar - ClinVar
UQCRB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 C3541471 TTC19 Causal Pathogenic evidence from ClinVar - ClinVar
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 C3554605 TTC19 Causal Pathogenic evidence from ClinVar 21278747, 27604308 ClinVar
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 C4014408 UQCC2 Causal Pathogenic evidence from ClinVar 24385928 ClinVar
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 C4015253 UQCC3 Causal Pathogenic evidence from ClinVar 25008109, 28804536 ClinVar
LBHD1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5 C3554608 UQCRC2 Causal Pathogenic evidence from ClinVar 23281071 ClinVar
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 C3554607 UQCRQ Causal Pathogenic evidence from ClinVar 18439546, 27604308 ClinVar
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1 C3275684 ATP6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16049925, 18055910 -
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 C4747517 CFAP92 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 C4748790 DALRD3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 C4748839 HIF1AN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 C4748826 MTFMT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22499348, 23499752, 24461907 -
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1 C4746992 ND3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11456298, 14705112, 20818383 -
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 C4748840 SMDT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3 C3554606 UQCRB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12709789, 18439546, 23454382, 28604960 -