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:0011965 | HP:0011965 | Abnormal circulating citrulline concentration | 0 | AASS CL E G H | 10157 | 17366 | ORPHA:3124 | Saccharopinuria | | | | 15 | | |
HP:0011965 | HP:0011965 | Abnormal circulating citrulline concentration | 0 | ASS1 CL E G H | 445 | 758 | OMIM:215700 | Citrullinemia, classic | | | | 119 | | |
HP:0011965 | HP:0011965 | Abnormal circulating citrulline concentration | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0011965 | HP:0011965 | Abnormal circulating citrulline concentration | 0 | CPS1 CL E G H | 1373 | 2323 | OMIM:237300 | Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to | | | | 124 | | |
HP:0011965 | HP:0011965 | Abnormal circulating citrulline concentration | 0 | MRM2 CL E G H | 29960 | 16352 | OMIM:618567 | MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17 | | | | | | |
HP:0011965 | HP:0011965 | Abnormal circulating citrulline concentration | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0011965 | HP:0011965 | Abnormal circulating citrulline concentration | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0011965 | HP:0011965 | Abnormal circulating citrulline concentration | 0 | ND3 CL E G H | 4537 | 7458 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0011965 | HP:0011965 | Abnormal circulating citrulline concentration | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0011965 | HP:0011965 | Abnormal circulating citrulline concentration | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0011965 | HP:0011965 | Abnormal circulating citrulline concentration | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0011965 | HP:0011965 | Abnormal circulating citrulline concentration | 0 | OTC CL E G H | 5009 | 8512 | OMIM:311250 | Ornithine transcarbamylase deficiency, hyperammonemia due to | | | | 369 | | |
HP:0011965 | HP:0011965 | Abnormal circulating citrulline concentration | 0 | PCK1 CL E G H | 5105 | 8724 | OMIM:261680 | Phosphoenolpyruvate carboxykinase deficiency, cytosolic | | | | 53 | | |
HP:0011965 | HP:0011965 | Abnormal circulating citrulline concentration | 0 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247585 | Citrullinemia type II | | | | 82 | | |
HP:0011965 | HP:0011965 | Abnormal circulating citrulline concentration | 0 | SLC25A13 CL E G H | 10165 | 10983 | OMIM:603471 | Citrullinemia, type II, adult-onset | | | | 82 | | |
HP:0011965 | HP:0011965 | Abnormal circulating citrulline concentration | 0 | SLC25A13 CL E G H | 10165 | 10983 | OMIM:605814 | Citrullinemia, type II, neonatal-onset | | | | 82 | | |
HP:0011965 | HP:0011965 | Abnormal circulating citrulline concentration | 0 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247598 | Neonatal intrahepatic cholestasis due to citrin deficiency | | | | 82 | | |
HP:0011965 | HP:0011965 | Abnormal circulating citrulline concentration | 0 | SLC25A15 CL E G H | 10166 | 10985 | ORPHA:415 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | HP:0040281 - Very frequent | | | 88 | | |
HP:0011965 | HP:0011965 | Abnormal circulating citrulline concentration | 0 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | | | | 104 | | |
HP:0011965 | HP:0011965 | Abnormal circulating citrulline concentration | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0011965 | HP:0011965 | Abnormal circulating citrulline concentration | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0011965 | HP:0011965 | Abnormal circulating citrulline concentration | 0 | TRNV CL E G H | 4577 | 7500 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0011965 | HP:0011965 | Abnormal circulating citrulline concentration | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0011965 | HP:0011966 | Elevated plasma citrulline | 1 | AASS CL E G H | 10157 | 17366 | ORPHA:3124 | Saccharopinuria | HP:0040283 - Occasional | | | 15 | | |
HP:0011965 | HP:0011966 | Elevated plasma citrulline | 1 | ASS1 CL E G H | 445 | 758 | OMIM:215700 | Citrullinemia, classic | | | | 119 | | |
HP:0011965 | HP:0003572 | Low plasma citrulline | 1 | ATP6 CL E G H | 4508 | 7414 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040284 - Very rare | | | | | |
HP:0011965 | HP:0003572 | Low plasma citrulline | 1 | CPS1 CL E G H | 1373 | 2323 | OMIM:237300 | Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to | . | | | 124 | | |
HP:0011965 | HP:0003572 | Low plasma citrulline | 1 | MRM2 CL E G H | 29960 | 16352 | OMIM:618567 | MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17 | | | | | | |
HP:0011965 | HP:0003572 | Low plasma citrulline | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040284 - Very rare | | | | | |
HP:0011965 | HP:0003572 | Low plasma citrulline | 1 | ND2 CL E G H | 4536 | 7456 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040284 - Very rare | | | | | |
HP:0011965 | HP:0003572 | Low plasma citrulline | 1 | ND3 CL E G H | 4537 | 7458 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040284 - Very rare | | | | | |
HP:0011965 | HP:0003572 | Low plasma citrulline | 1 | ND4 CL E G H | 4538 | 7459 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040284 - Very rare | | | | | |
HP:0011965 | HP:0003572 | Low plasma citrulline | 1 | ND5 CL E G H | 4540 | 7461 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040284 - Very rare | | | | | |
HP:0011965 | HP:0003572 | Low plasma citrulline | 1 | ND6 CL E G H | 4541 | 7462 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040284 - Very rare | | | | | |
HP:0011965 | HP:0003572 | Low plasma citrulline | 1 | OTC CL E G H | 5009 | 8512 | OMIM:311250 | Ornithine transcarbamylase deficiency, hyperammonemia due to | . | | | 369 | | |
HP:0011965 | HP:0003572 | Low plasma citrulline | 1 | PCK1 CL E G H | 5105 | 8724 | OMIM:261680 | Phosphoenolpyruvate carboxykinase deficiency, cytosolic | . | | | 53 | | |
HP:0011965 | HP:0011966 | Elevated plasma citrulline | 1 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247585 | Citrullinemia type II | HP:0040281 - Very frequent | | | 82 | | |
HP:0011965 | HP:0011966 | Elevated plasma citrulline | 1 | SLC25A13 CL E G H | 10165 | 10983 | OMIM:603471 | Citrullinemia, type II, adult-onset | | | | 82 | | |
HP:0011965 | HP:0011966 | Elevated plasma citrulline | 1 | SLC25A13 CL E G H | 10165 | 10983 | OMIM:605814 | Citrullinemia, type II, neonatal-onset | . | | | 82 | | |
HP:0011965 | HP:0011966 | Elevated plasma citrulline | 1 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247598 | Neonatal intrahepatic cholestasis due to citrin deficiency | HP:0040281 - Very frequent | | | 82 | | |
HP:0011965 | HP:0011966 | Elevated plasma citrulline | 1 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | HP:0040282 - Frequent | | | 104 | | |
HP:0011965 | HP:0003572 | Low plasma citrulline | 1 | TRNK CL E G H | 4566 | 7489 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040284 - Very rare | | | | | |
HP:0011965 | HP:0003572 | Low plasma citrulline | 1 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040284 - Very rare | | | | | |
HP:0011965 | HP:0003572 | Low plasma citrulline | 1 | TRNV CL E G H | 4577 | 7500 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040284 - Very rare | | | | | |
HP:0011965 | HP:0003572 | Low plasma citrulline | 1 | TRNW CL E G H | 4578 | 7501 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040284 - Very rare | | | | | |