Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | AFG3L2 CL E G H | 10939 | 315 | ORPHA:313772 | Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome | HP:0040282 - Frequent | | | 86 | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | FOXRED1 CL E G H | 55572 | 26927 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 61 | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:59135 | Laing early-onset distal myopathy | HP:0040282 - Frequent | | | 1269 | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | ND3 CL E G H | 4537 | 7458 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | NDUFA1 CL E G H | 4694 | 7683 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 7 | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | NDUFA11 CL E G H | 126328 | 20371 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 32 | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | NDUFA6 CL E G H | 4700 | 7690 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | NDUFAF1 CL E G H | 51103 | 18828 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 40 | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | NDUFAF2 CL E G H | 91942 | 28086 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 26 | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | NDUFAF4 CL E G H | 29078 | 21034 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 50 | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | NDUFAF5 CL E G H | 79133 | 15899 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 34 | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | NDUFAF8 CL E G H | 284184 | 33551 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | NDUFB10 CL E G H | 4716 | 7696 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 3 | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | NDUFB3 CL E G H | 4709 | 7698 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 9 | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | NDUFB9 CL E G H | 4715 | 7704 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 16 | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | NDUFS1 CL E G H | 4719 | 7707 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 81 | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 65 | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | NDUFS3 CL E G H | 4722 | 7710 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 22 | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | NDUFS4 CL E G H | 4724 | 7711 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 27 | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | NDUFS6 CL E G H | 4726 | 7713 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 21 | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | NDUFS7 CL E G H | 374291 | 7714 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 38 | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | NDUFS8 CL E G H | 4728 | 7715 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 42 | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | NDUFV1 CL E G H | 4723 | 7716 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 74 | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | NDUFV2 CL E G H | 4729 | 7717 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 27 | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | NUBPL CL E G H | 80224 | 20278 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 89 | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | SDHA CL E G H | 6389 | 10680 | OMIM:252011 | Mitochondrial complex II deficiency | . | | | 304 | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | TIMMDC1 CL E G H | 51300 | 1321 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | TMEM126B CL E G H | 55863 | 30883 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 4 | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | HP:0040282 - Frequent | | | | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | TRNL2 CL E G H | 4568 | 7491 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | HP:0040282 - Frequent | | | | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | TRNN CL E G H | 4570 | 7493 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | HP:0040282 - Frequent | | | | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | HP:0040282 - Frequent | | | | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |
HP:0008316 | HP:0008316 | Abnormal mitochondria in muscle tissue | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | HP:0040281 - Very frequent | | | | | |