252010 | MITOCHONDRIAL COMPLEX I DEFICIENCY | HUMSAVAR | link to OMIM | 24 | MT-ND5, NDUFAF2, MT-ND6, NDUFS2, NDUFAF6, NDUFAF1, NDUFAF5, NDUFV1, NUBPL, NDUFS7, MT-ND1, NDUFS3, NDUFA1, NDUFS6, NDUFV2, NDUFAF4, MT-ND3, NDUFAF3, NDUFS1, NDUFB9, NDUFA11, NDUFS4, NDUFB3, FOXRED1 |
545000 | MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS | OMIM | link to OMIM | 7 | MT-ND5, MT-TS1, MT-TH, MT-TL1, MT-TS2, MT-TK, MT-TF |
535000 | LEBER OPTIC ATROPHY | HUMSAVAR | link to OMIM | 9 | MT-ND5, MT-ATP6, MT-CO3, MT-ND4, MT-ND1, MT-CYB, MT-ND6, MT-ND4L, MT-ND2 |
520100 | DIARRHEA, CHRONIC, WITH VILLOUS ATROPHY | OMIM | link to OMIM | 3 | MT-ND4L, MT-CYB, MT-ND5 |
256000 | LEIGH SYNDROME | HUMSAVAR | link to OMIM | 27 | MT-ND5, NDUFAF2, NDUFA12, NDUFAF6, NDUFV1, NDUFA10, MTFMT, NDUFS8, BCS1L, SDHA, MT-CO3, COX10, NDUFA2, ECHS1, NDUFS3, MT-ATP6, SURF1, MT-ND3, IARS2, NARS2, NDUFS7, COX15, NDUFAF5, POLG, FOXRED1, NDUFS4, NDUFA9 |
540000 | MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES | OMIM, HUMSAVAR | link to OMIM | 13 | MT-TQ, MT-TL1, MT-TS1, MT-CO3, MT-TH, MT-ND5, MT-ND4, MT-ND1, MT-TS2, MT-ND6, MT-TD, NDUFS1, MT-TK |