Mitochondrial complex deficiency

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
MITOCHONDRIAL COMPLEX 5 DEFICIENCY, NUCLEAR TYPE 6
MONDO:0032869
ATP5MK Unknown — ClinVar —
MITOCHONDRIAL COMPLEX I DEFICIENCY
C1838979MONDO:0100133
AMACR Unknown — Disgenet
CFAP92 Unknown — Disgenet —
ERCC8 Unknown — Disgenet
MRPL36 Unknown — Disgenet
ND1 Unknown — Disgenet
ND2 Unknown — Disgenet
ND3 Unknown — Disgenet
ND4 Unknown — Disgenet
NDUFA1 Unknown
17262856 19185523 21596602 22644603
Disgenet
NDUFA10 Unknown — Disgenet
NDUFA11 Unknown
18306244 22644603
Disgenet, GWAS catalog
NDUFA2 Unknown — Disgenet
NDUFA6 Unknown
30245030
Disgenet, Orphanet
NDUFAF1 Unknown
17557076
Disgenet
NDUFAF2 Unknown
16200211
Disgenet, GWAS catalog
NDUFAF3 Unknown
19463981 22644603
Disgenet
NDUFAF8 Unknown
31866046
Disgenet, GWAS catalog
NDUFB11 Unknown — Disgenet
NDUFB9 Unknown
22200994
Disgenet, GWAS catalog
NDUFS1 Unknown
20382551 22644603
CTD, Disgenet
NDUFS2 Unknown
15576045 22644603
Disgenet, GWAS catalog
NDUFS3 Unknown
22499348
Disgenet, GenCC
NDUFS6 Unknown
15372108 19259137 22644603
Disgenet, GenCC
NDUFS7 Unknown
22644603
Disgenet, GWAS catalog
NDUFS8 Unknown
22499348 22644603
Disgenet, GenCC
NDUFV2 Unknown
12754703 22644603 26008862
Disgenet, GWAS catalog
SLC35G2 Unknown — Disgenet, GenCC —
TCIRG1 Unknown — Disgenet
TIMMDC1 Unknown
28604674
Disgenet, GWAS catalog
TMCO6 Unknown — Disgenet —
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
C4746992
ND3 Unknown — Disgenet
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE
MONDO:0009640
NDUFS4 Unknown — GenCC
NDUFS6 Unknown
15372108 19259137 22474353 23320803 25902503 27290639
CTD
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10
C4748768
ERCC8 Unknown — Disgenet
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13
C4748770
TMCO6 Unknown — Disgenet —
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15
618237C4748778MONDO:0032620
NDUFAF4 Unknown
18179882 22200994 26425749 28853723
ClinVar, Disgenet, HPO
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
611126C4747517
ACAD9 Unknown — Disgenet, HPO
CFAP92 Unknown — Disgenet —
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35
C5436576619003
NARS1 Unknown — Disgenet
NDUFB10 Unknown — Disgenet, HPO
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36
C5436935
NDUFC2-KCTD14 Unknown — Disgenet
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9
C4748767
MRPL36 Unknown — Disgenet
MITOCHONDRIAL COMPLEX II DEFICIENCY
C1855008MESH:C565375MONDO:0009641
SDHA Unknown
22972948
CTD, Disgenet, GWAS catalog
SDHAF1 Unknown — Disgenet, GenCC —
SDHB Unknown
22972948
Disgenet, GenCC
SDHD Unknown — Disgenet, GenCC
MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1
C5700310
SDHB Unknown — Disgenet
MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2
619166C5436933
SDHAF1 Unknown — Disgenet, HPO —
MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3
619167C5436934
SDHD Unknown — Disgenet, HPO
MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4
619224C5543176
SDHB Unknown — Disgenet, HPO
MITOCHONDRIAL COMPLEX III DEFICIENCY
C1852372MONDO:0015448MESH:C565128
BCS1L Unknown
17403714 19162478 25914718
Disgenet, GWAS catalog —
CYC1 Unknown
23910460 25914718
CTD, Disgenet, GWAS catalog
CYTB Unknown — Disgenet
LYRM7 Unknown
24014394 25914718
CTD, Disgenet —
TTC19 Unknown
21278747 25914718
CTD, Disgenet —
UQCC2 Unknown
24385928 25914718
CTD, Disgenet, GWAS catalog —
UQCC3 Unknown
25008109 25914718
CTD, Disgenet, GWAS catalog —
UQCRB Unknown
12709789 25914718
CTD, ClinVar, Disgenet
UQCRC2 Unknown
23281071 25914718
CTD, Disgenet, GWAS catalog
MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 3
MONDO:0014064
UQCRB Unknown — ClinVar, GenCC
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
124000C3541471OMIM:124000
BCS1L Unknown — CTD, Disgenet, HPO —
CYC1 Unknown — Disgenet
LYRM7 Unknown — Disgenet —
TTC19 Unknown — Disgenet —
UQCC2 Unknown — Disgenet —
UQCC3 Unknown — Disgenet —
UQCRB Unknown — Disgenet
UQCRC2 Unknown — Disgenet
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2
615157C3554605
TTC19 Unknown — Disgenet, HPO —
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3
615158C3554606
UQCRB Unknown — Disgenet, HPO
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5
615160C3554608
UQCRC2 Unknown — Disgenet, HPO
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6
615453C3809553
CYC1 Unknown — Disgenet, HPO
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7
615824C4014408
UQCC2 Unknown — Disgenet, HPO —
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8
615838C4014440
LYRM7 Unknown — Disgenet, HPO —
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9
616111C4015253
UQCC3 Unknown — Disgenet, HPO —
MITOCHONDRIAL COMPLEX V DEFICIENCY, MITOCHONDRIAL TYPE 1
C3275684
ND1 Unknown — Disgenet
ND2 Unknown — Disgenet
ND3 Unknown — Disgenet
ND4 Unknown — Disgenet
MITOCHONDRIAL COMPLEX V DEFICIENCY, NUCLEAR TYPE 6
618683C5231461
ATP5MK Unknown — Disgenet, HPO —
All119 Causal69 Unknown88
Related Diseases Diseases that share the most curated genes with Mitochondrial complex deficiency.
5 View disease cluster →
Mitochondrial disease 97 shared genesCOA8, COX5A, NDUFA10, NDUFA12, NDUFA9, NDUFAF2, NDUFAF6, SDHB, UQCRFS1, UQCRH, ATP5F1A, ND1 +85 more Related via 97 shared genes including COA8, COX5A, NDUFA10. Leigh syndrome 48 shared genesNDUFA10, NDUFA12, NDUFA9, NDUFAF2, NDUFAF6, ND2, NDUFS3, NDUFS2, TTC19, LRPPRC, NDUFA2, TIMMDC1 +36 more Related via 48 shared genes including NDUFA10, NDUFA12, NDUFA9. Cytochrome c oxidase deficiency 20 shared genesCOX5A, LRPPRC, SCO2, SCO1, COA3, COA5, COA6, COX15, SURF1, COX14, FASTKD2, PET100 +8 more Related via 20 shared genes including COX5A, LRPPRC, SCO2. Leber hereditary optic neuropathy 14 shared genesND1, ND2, NDUFS2, ATP6, COX3, ATP8, COX1, ND5, COX2, ND3, ND4, ND4L +2 more Related via 14 shared genes including ND1, ND2, NDUFS2. Melas syndrome 12 shared genesND1, ND2, ATP6, COX3, ATP8, COX1, ND5, NDUFS1, COX2, ND3, ND4, CYTB Related via 12 shared genes including ND1, ND2, ATP6.