Mitochondrial complex deficiency
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| MITOCHONDRIAL COMPLEX III DEFICIENCY | UQCRFS1 | Unknown | CTD, Disgenet | |||
| UQCRH | Unknown | — | Disgenet | |||
| UQCRQ | Unknown | CTD, Disgenet | ||||
| MITOCHONDRIAL COMPLEX III DEFICIENCY NUCLEAR TYPE 4 | UQCRQ | Unknown | — | ClinVar, GenCC | ||
| MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 | NCOR1 | Unknown | — | Disgenet | ||
| UQCRQ | Unknown | — | Disgenet | |||
| ZSWIM7 | Unknown | — | Disgenet | — | ||
| MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 11 | UQCRH | Unknown | — | ClinVar, Disgenet, GenCC, HPO | ||
| MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 | NCOR1 | Unknown | — | Disgenet | ||
| MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 | UQCRQ | Unknown | — | Disgenet, HPO | ||
| MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5 | PDZD9 | Unknown | — | Disgenet | — | |
| MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 | LBHD1 | Unknown | — | Disgenet | — | |
| MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 | COA3 | Unknown | — | Disgenet | ||
| COX1 | Unknown | — | Disgenet | |||
| COX15 | Unknown | — | ClinVar, Disgenet | |||
| COX18 | Unknown | — | Disgenet | |||
| COX2 | Unknown | — | Disgenet | |||
| COX3 | Unknown | — | Disgenet | |||
| COXFA4 | Unknown | — | GenCC | — | ||
| CUTC | Unknown | — | Disgenet | — | ||
| ENTPD7 | Unknown | — | Disgenet | |||
| NCAPH2 | Unknown | — | Disgenet | |||
| NDUFA4 | Unknown | — | Disgenet | |||
| SCO2 | Unknown | — | ClinVar, Disgenet | |||
| STXBP2 | Unknown | — | Disgenet | |||
| TYMP | Unknown | — | Disgenet | |||
| MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 | STXBP2 | Unknown | — | Disgenet | ||
| MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 13 | COA6 | Unknown | — | Disgenet, HPO | ||
| MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14 | COA3 | Unknown | ClinVar, Disgenet, GWAS catalog, HPO | |||
| MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15 | COX8A | Unknown | — | ClinVar, Disgenet, GenCC, HPO | ||
| MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19 | KAT14 | Unknown | — | Disgenet | — | |
| MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2 | COA5 | Unknown | — | Disgenet | ||
| COA6 | Unknown | — | Disgenet | |||
| COX15 | Unknown | — | Disgenet | |||
| NCAPH2 | Unknown | — | Disgenet | |||
| SCO2 | Unknown | — | Disgenet, HPO | |||
| TYMP | Unknown | — | Disgenet | |||
| MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21 | NDUFA4 | Unknown | — | Disgenet | ||
| MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22 | SYNJ2BP-COX16 | Unknown | — | Disgenet | — | |
| MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 | LRPPRC | Unknown | — | HPO | ||
| MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 6 | COX15 | Unknown | — | HPO | ||
| MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 9 | COA5 | Unknown | — | Disgenet, HPO | ||
| MITOCHONDRIAL COMPLEX V DEFICIENCY, MITOCHONDRIAL TYPE 1 | ATP6 | Unknown | — | Disgenet | ||
| ATP8 | Unknown | — | Disgenet | |||
| COX1 | Unknown | — | Disgenet | |||
| COX2 | Unknown | — | Disgenet | |||
| COX3 | Unknown | — | Disgenet | |||
| ND4L | Unknown | — | Disgenet | |||
| ND5 | Unknown | — | Disgenet | |||
| MITOCHONDRIAL COMPLEX V DEFICIENCY, NUCLEAR TYPE 1 | ATPAF2 | Unknown | — | CTD, ClinVar, Disgenet, GenCC, HPO | — | |
| MITOCHONDRIAL COMPLEX V DEFICIENCY, NUCLEAR TYPE 2 | TMEM70 | Unknown | CTD, ClinVar, GWAS catalog, HPO | — | ||
| MITOCHONDRIAL COMPLEX V DEFICIENCY, NUCLEAR TYPE 3 | ATP5F1E | Unknown | — | CTD, ClinVar, Disgenet, GenCC, HPO | ||
| MITOCHONDRIAL COMPLEX V DEFICIENCY, NUCLEAR TYPE 4A | ATP5F1A | Unknown | ClinVar, Disgenet, GWAS catalog, HPO | |||
| MITOCHONDRIAL COMPLEX V DEFICIENCY, NUCLEAR TYPE 4B | ATP5F1A | Unknown | CTD, ClinVar, Disgenet, GWAS catalog, HPO | |||
| MITOCHONDRIAL COMPLEX V DEFICIENCY, NUCLEAR TYPE 5 | ATP5F1D | Unknown | ClinVar, Disgenet, GWAS catalog, HPO | |||
| ND5 | Unknown | — | Disgenet | |||
| NDUFV1 | Unknown | — | Disgenet | |||
| MITOCHONDRIAL COMPLEX V DEFICIENCY, NUCLEAR TYPE 7 | ATP5PO | Unknown | — | ClinVar, Disgenet, HPO |