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:0200125 | HP:0200125 | Mitochondrial respiratory chain defects | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0200125 | HP:0200125 | Mitochondrial respiratory chain defects | 0 | CAMKMT CL E G H | 79823 | 26276 | ORPHA:163693 | 2p21 microdeletion syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0200125 | HP:0200125 | Mitochondrial respiratory chain defects | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0200125 | HP:0200125 | Mitochondrial respiratory chain defects | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0200125 | HP:0200125 | Mitochondrial respiratory chain defects | 0 | CYP27A1 CL E G H | 1593 | 2605 | ORPHA:909 | Cerebrotendinous xanthomatosis | HP:0040283 - Occasional | | | 114 | | |
HP:0200125 | HP:0200125 | Mitochondrial respiratory chain defects | 0 | CYTB CL E G H | 4519 | 7427 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0200125 | HP:0200125 | Mitochondrial respiratory chain defects | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0200125 | HP:0200125 | Mitochondrial respiratory chain defects | 0 | FBXL4 CL E G H | 26235 | 13601 | OMIM:615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | . | | | 384 | | |
HP:0200125 | HP:0200125 | Mitochondrial respiratory chain defects | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0200125 | HP:0200125 | Mitochondrial respiratory chain defects | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0200125 | HP:0200125 | Mitochondrial respiratory chain defects | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0200125 | HP:0200125 | Mitochondrial respiratory chain defects | 0 | ND4L CL E G H | 4539 | 7460 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0200125 | HP:0200125 | Mitochondrial respiratory chain defects | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0200125 | HP:0200125 | Mitochondrial respiratory chain defects | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | | | |
HP:0200125 | HP:0200125 | Mitochondrial respiratory chain defects | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040281 - Very frequent | | | 65 | | |
HP:0200125 | HP:0200125 | Mitochondrial respiratory chain defects | 0 | PNPT1 CL E G H | 87178 | 23166 | ORPHA:319514 | Combined oxidative phosphorylation defect type 13 | HP:0040281 - Very frequent | | | 60 | | |
HP:0200125 | HP:0200125 | Mitochondrial respiratory chain defects | 0 | PPM1B CL E G H | 5495 | 9276 | ORPHA:163693 | 2p21 microdeletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0200125 | HP:0200125 | Mitochondrial respiratory chain defects | 0 | PREPL CL E G H | 9581 | 30228 | ORPHA:163693 | 2p21 microdeletion syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0200125 | HP:0200125 | Mitochondrial respiratory chain defects | 0 | SLC3A1 CL E G H | 6519 | 11025 | ORPHA:163693 | 2p21 microdeletion syndrome | HP:0040281 - Very frequent | | | 55 | | |
HP:0200125 | HP:0200125 | Mitochondrial respiratory chain defects | 0 | TRMU CL E G H | 55687 | 25481 | OMIM:613070 | Liver failure, infantile, transient | . | | | 101 | | |