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:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | ACADS CL E G H | 35 | 90 | OMIM:201470 | Acyl-Coa dehydrogenase, short-chain, deficiency of | HP:0040283 - Occasional | | | 90 | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | APTX CL E G H | 54840 | 15984 | OMIM:208920 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | . | | | 61 | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | ATP8 CL E G H | 4509 | 7415 | ORPHA:480 | Kearns-Sayre syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276238 | Machado-Joseph disease type 1 | HP:0040281 - Very frequent | | | 14 | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276241 | Machado-Joseph disease type 2 | HP:0040281 - Very frequent | | | 14 | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276244 | Machado-Joseph disease type 3 | HP:0040281 - Very frequent | | | 14 | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | C1QBP CL E G H | 708 | 1243 | OMIM:617713 | Combined oxidative phosphorylation deficiency 33 | . | | | | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | DGUOK CL E G H | 1716 | 2858 | ORPHA:329314 | Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | HP:0040282 - Frequent | | | 57 | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | DGUOK CL E G H | 1716 | 2858 | OMIM:617070 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | . | | | 57 | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | DNA2 CL E G H | 1763 | 2939 | ORPHA:352470 | DNA2-related mitochondrial DNA deletion syndrome | HP:0040281 - Very frequent | | | 41 | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | DNA2 CL E G H | 1763 | 2939 | OMIM:615156 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6 | . | | | 41 | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | GIPC1 CL E G H | 10755 | 1226 | ORPHA:98897 | Oculopharyngodistal myopathy | HP:0040281 - Very frequent | | | | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | MGME1 CL E G H | 92667 | 16205 | OMIM:615084 | Mitochondrial DNA depletion syndrome 11 | . | | | 11 | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | MGME1 CL E G H | 92667 | 16205 | ORPHA:352447 | Progressive external ophthalmoplegia-myopathy-emaciation syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | NOTCH2NLC CL E G H | 100996717 | 53924 | ORPHA:98897 | Oculopharyngodistal myopathy | HP:0040281 - Very frequent | | | | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | OPA1 CL E G H | 4976 | 8140 | ORPHA:1215 | Autosomal dominant optic atrophy plus syndrome | HP:0040282 - Frequent | | | 214 | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | OPA1 CL E G H | 4976 | 8140 | OMIM:165500 | Optic atrophy 1 | | | | 214 | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | POLG CL E G H | 5428 | 9179 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | . | | | 464 | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | POLG CL E G H | 5428 | 9179 | OMIM:613662 | Mitochondrial DNA depletion syndrome 4B (mngie type) | . | | | 464 | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | . | | | 464 | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | . | | | 464 | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | . | | | 464 | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | POLG2 CL E G H | 11232 | 9180 | OMIM:610131 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | . | | | 45 | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | POLRMT CL E G H | 5442 | 9200 | OMIM:619743 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55 | | | | 1 | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | RNASEH1 CL E G H | 246243 | 18466 | ORPHA:329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | HP:0040280 - Obligate | | | 3 | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | RNASEH1 CL E G H | 246243 | 18466 | OMIM:616479 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | . | | | 3 | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | HP:0040280 - Obligate | | | 125 | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:480 | Kearns-Sayre syndrome | HP:0040281 - Very frequent | | | 125 | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | RRM2B CL E G H | 50484 | 17296 | OMIM:613077 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | . | | | 125 | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | SLC25A4 CL E G H | 291 | 10990 | OMIM:609283 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | | | | 68 | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | TK2 CL E G H | 7084 | 11831 | ORPHA:254875 | Mitochondrial DNA depletion syndrome, myopathic form | HP:0040283 - Occasional | | | 103 | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | TK2 CL E G H | 7084 | 11831 | OMIM:617069 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | . | | | 103 | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | TOP3A CL E G H | 7156 | 11992 | OMIM:618098 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 | . | | | | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:1349 | Mitochondrial DNA-related cardiomyopathy and hearing loss | HP:0040282 - Frequent | | | | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:480 | Kearns-Sayre syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | HP:0040281 - Very frequent | | | | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | TRNL2 CL E G H | 4568 | 7491 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | HP:0040281 - Very frequent | | | | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | TRNN CL E G H | 4570 | 7493 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | HP:0040281 - Very frequent | | | | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:663 | Mitochondrial DNA-related progressive external ophthalmoplegia | HP:0040281 - Very frequent | | | | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | TRNT CL E G H | 4576 | 7499 | ORPHA:254857 | Lethal infantile mitochondrial myopathy | HP:0040282 - Frequent | | | | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:609286 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | | | | 113 | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | . | | | 113 | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | TYMP CL E G H | 1890 | 3148 | OMIM:603041 | Mitochondrial DNA depletion syndrome 1 (mngie type) | . | | | 138 | | |
HP:0000590 | HP:0000590 | Progressive external ophthalmoplegia | 0 | VARS2 CL E G H | 57176 | 21642 | OMIM:615917 | Combined oxidative phosphorylation deficiency 20 | HP:0040283 - Occasional | | | 56 | | |