Table 1. Candidates of mitochondrial disease-causing genes.
| Disease (OMIM) | Linkage region | Gene loci | Mitochondrial candidates | Network position | Disease-causing gene candidates |
|---|---|---|---|---|---|
| Hepatic mtDNA depletion | D2S2373–D2S2259 | 186 | 17 | 2 | CAD, MPV17 |
| Charcot-Marie-Tooth disease type 2 (CMT2F) | 7q11–7q21 | 256 | 20 | 4 | CYP51A1, HSPB1, ELN, GTPBP10 |
| Charcot-Marie-Tooth disease type 2 (CMT2L) | D12S366–D12S1611 | 107 | 17 | 11 | DIABLO, TRIAP1, COQ5, MSI1, RPS2P5, RAB35, HSPB8, POP5, CLIP1, PEBP1, PLA2G1B |
| Cardiomyopathy, familial dilated. (FDC) | 9q13–9q22 | 214 | 22 | 14 | TDRD7, HSPBL2, PRKACG, RFK, VPS13A, ANXA1, C9orf89, SECISBP2, UBQLN1, NTRK2, NCBP1, NANS, HNRNPK, IARS |
| Cardiomyopathy, familial dilated. (FDC) | 10q21–10q23 | 313 | 43 | 18 | PSAP, RPS24, ACTA2, CYP26A1, MARCH5, PPA1, IDE, ANXA11, IFIT3, SLC25A16, SUPV3L1, PHYHIPL, NDST2, AIFM2, CYP2C19, MINPP1, ARID5B, LDB3 |
| mtDNA depletion syndrome (MDS) | 2p13 | 125 | 18 | 3 | HK2, SPR, DGUOK |
| mtDNA depletion syndrome (MDS) | 15q22–15q26 | 435 | 45 | 6 | GAPDHL6, CYP11A1, CLPX, ETFA, BCL2A1, RAB11A |
Bold texts represent the mitochondrial disease-causing genes with experimental evidences.