Mitochondrial complex deficiency
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| MITOCHONDRIAL COMPLEX 1 DEFICIENCY, NUCLEAR TYPE 35 | NDUFB10 | Causal | ClinVar, Disgenet | |||
| MITOCHONDRIAL COMPLEX 2 DEFICIENCY, NUCLEAR TYPE 2 | SDHAF1 | Causal | — | ClinVar, GenCC | — | |
| MITOCHONDRIAL COMPLEX 2 DEFICIENCY, NUCLEAR TYPE 3 | SDHD | Causal | — | ClinVar, GenCC | ||
| MITOCHONDRIAL COMPLEX 2 DEFICIENCY, NUCLEAR TYPE 4 | SDHB | Causal | ClinVar, Orphanet | |||
| MITOCHONDRIAL COMPLEX 5 DEFICIENCY, NUCLEAR TYPE 6 | ATP5MK | Unknown | — | ClinVar | — | |
| MITOCHONDRIAL COMPLEX I DEFICIENCY | ACAD9 | Causal | — | Disgenet | ||
| FOXRED1 | Causal | Disgenet, HPO | — | |||
| NDUFA13 | Causal | — | Disgenet | |||
| NDUFAF4 | Causal | Disgenet, GWAS catalog | ||||
| NDUFAF5 | Causal | Disgenet, GWAS catalog | ||||
| NDUFB10 | Causal | Disgenet, GWAS catalog | ||||
| NDUFB3 | Causal | CTD, Disgenet | ||||
| NDUFS4 | Causal | CTD, Disgenet, GWAS catalog | ||||
| NDUFV1 | Causal | Disgenet | ||||
| NUBPL | Causal | Disgenet, GWAS catalog | ||||
| SLC25A10 | Causal | — | Disgenet | |||
| TMEM126B | Causal | Disgenet, GWAS catalog | ||||
| 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 | Disgenet | ||||
| NDUFA10 | Unknown | — | Disgenet | |||
| NDUFA11 | Unknown | Disgenet, GWAS catalog | ||||
| NDUFA2 | Unknown | — | Disgenet | |||
| NDUFA6 | Unknown | Disgenet, Orphanet | ||||
| NDUFAF1 | Unknown | Disgenet | ||||
| NDUFAF2 | Unknown | Disgenet, GWAS catalog | ||||
| NDUFAF3 | Unknown | Disgenet | ||||
| NDUFAF8 | Unknown | Disgenet, GWAS catalog | ||||
| NDUFB11 | Unknown | — | Disgenet | |||
| NDUFB9 | Unknown | Disgenet, GWAS catalog | ||||
| NDUFS1 | Unknown | CTD, Disgenet | ||||
| NDUFS2 | Unknown | Disgenet, GWAS catalog | ||||
| NDUFS3 | Unknown | Disgenet, GenCC | ||||
| NDUFS6 | Unknown | Disgenet, GenCC | ||||
| NDUFS7 | Unknown | Disgenet, GWAS catalog | ||||
| NDUFS8 | Unknown | Disgenet, GenCC | ||||
| NDUFV2 | Unknown | Disgenet, GWAS catalog | ||||
| SLC35G2 | Unknown | — | Disgenet, GenCC | — | ||
| TCIRG1 | Unknown | — | Disgenet | |||
| TIMMDC1 | Unknown | Disgenet, GWAS catalog | ||||
| TMCO6 | Unknown | — | Disgenet | — | ||
| MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1 | ND3 | Unknown | — | Disgenet | ||
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE | NDUFS4 | Unknown | — | GenCC | ||
| NDUFS6 | Unknown | CTD | ||||
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1 | FOXRED1 | Causal | CTD | — | ||
| NDUFS4 | Causal | ClinVar, GWAS catalog, HPO | ||||
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 | NDUFAF2 | Causal | ClinVar, Disgenet, HPO | |||
| ERCC8 | Unknown | — | Disgenet | |||
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 | NDUFAF1 | Causal | ClinVar, Disgenet, HPO | |||
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 | NDUFA1 | Causal | — | ClinVar, Disgenet, GenCC, HPO | ||
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13 | NDUFA2 | Causal | ClinVar, Disgenet, GWAS catalog, HPO | |||
| TMCO6 | Unknown | — | Disgenet | — | ||
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 | NDUFA11 | Causal | ClinVar, Disgenet, HPO | |||
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 | NDUFAF4 | Unknown | ClinVar, Disgenet, HPO | |||
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 | NDUFAF5 | Causal | — | ClinVar, Disgenet, GenCC, HPO | ||
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 | NDUFAF6 | Causal | — | ClinVar, Disgenet, GenCC, HPO | ||
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 | NDUFAF3 | Causal | ClinVar, Disgenet, HPO | |||
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | FOXRED1 | Causal | ClinVar, Disgenet, GWAS catalog, HPO | — | ||
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 | NDUFS8 | Causal | — | ClinVar, Disgenet, GenCC, HPO | ||
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 | ACAD9 | Unknown | — | Disgenet, HPO | ||
| CFAP92 | Unknown | — | Disgenet | — | ||
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 | NUBPL | Causal | — | ClinVar, Disgenet, GenCC, HPO | ||
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22 | NDUFA10 | Causal | ClinVar, Disgenet, GWAS catalog, HPO | |||
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 | NDUFA12 | Causal | ClinVar, Disgenet, HPO | |||
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24 | NDUFB9 | Causal | — | ClinVar, Disgenet, GenCC, HPO | ||
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 | NDUFB3 | Causal | ClinVar, Disgenet, GWAS catalog, HPO | |||
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 | NDUFA9 | Causal | ClinVar, Disgenet, HPO | |||
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 | MTFMT | Causal | — | ClinVar, Disgenet, HPO | ||
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | NDUFA13 | Causal | — | ClinVar, Disgenet, GenCC, HPO | ||
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29 | TMEM126B | Causal | ClinVar, Disgenet, GWAS catalog, HPO | |||
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 | NDUFS7 | Causal | — | ClinVar, Disgenet, GenCC, HPO | ||
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30 | NDUFB11 | Causal | ClinVar, Disgenet, GWAS catalog, HPO | |||
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 | TIMMDC1 | Causal | ClinVar, Disgenet, GWAS catalog, HPO | |||
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 | NDUFA6 | Causal | ClinVar, Disgenet, GWAS catalog, HPO | |||
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34 | NDUFAF8 | Causal | ClinVar, Disgenet, GWAS catalog, HPO | |||
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35 | NDUFB10 | Unknown | — | Disgenet, HPO | ||
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 | NDUFV1 | Causal | — | ClinVar, Disgenet, GenCC, HPO | ||
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 | NDUFS1 | Causal | — | ClinVar, Disgenet, GenCC, HPO | ||
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6 | NDUFS2 | Causal | ClinVar, Disgenet, GWAS catalog, HPO | |||
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 | NDUFV2 | Causal | ClinVar, Disgenet, GWAS catalog, HPO | |||
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 | NDUFS3 | Causal | ClinVar, Disgenet, HPO | |||
| MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9 | NDUFS6 | Causal | CTD, ClinVar, Disgenet, HPO | |||
| MRPL36 | Unknown | — | Disgenet | |||
| MITOCHONDRIAL COMPLEX II DEFICIENCY | SDHAF1 | Unknown | — | Disgenet, GenCC | — | |
| SDHB | Unknown | Disgenet, GenCC | ||||
| SDHD | Unknown | — | Disgenet, GenCC | |||
| MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1 | SDHAF1 | Causal | Disgenet, GWAS catalog | — | ||
| SDHD | Causal | Disgenet, GWAS catalog | ||||
| SDHB | Unknown | — | Disgenet | |||
| MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2 | SDHAF1 | Unknown | — | Disgenet, HPO | — | |
| MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3 | SDHD | Unknown | — | Disgenet, HPO | ||
| MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4 | SDHB | Unknown | — | Disgenet, HPO | ||
| MITOCHONDRIAL COMPLEX V DEFICIENCY, MITOCHONDRIAL TYPE 1 | ND1 | Unknown | — | Disgenet | ||
| ND2 | Unknown | — | Disgenet | |||
| ND3 | Unknown | — | Disgenet | |||
| ND4 | Unknown | — | Disgenet | |||
| MITOCHONDRIAL COMPLEX V DEFICIENCY, NUCLEAR TYPE 5 | NDUFV1 | Unknown | — | Disgenet | ||
| MITOCHONDRIAL COMPLEX V DEFICIENCY, NUCLEAR TYPE 6 | ATP5MK | Unknown | — | Disgenet, HPO | — |