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:0010907 | HP:0010907 | Abnormal circulating proline concentration | 0 | ALDH4A1 CL E G H | 8659 | 406 | ORPHA:79101 | Hyperprolinemia type 2 | | | | 74 | | |
HP:0010907 | HP:0010907 | Abnormal circulating proline concentration | 0 | ALDH4A1 CL E G H | 8659 | 406 | OMIM:239510 | Hyperprolinemia, type II | | | | 74 | | |
HP:0010907 | HP:0010907 | Abnormal circulating proline concentration | 0 | COX10 CL E G H | 1352 | 2260 | OMIM:619046 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3 | | | | 82 | | |
HP:0010907 | HP:0010907 | Abnormal circulating proline concentration | 0 | COX16 CL E G H | 51241 | 20213 | OMIM:619355 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22 | | | | | | |
HP:0010907 | HP:0010907 | Abnormal circulating proline concentration | 0 | COX5A CL E G H | 9377 | 2267 | OMIM:619064 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20 | | | | | | |
HP:0010907 | HP:0010907 | Abnormal circulating proline concentration | 0 | LIPT1 CL E G H | 51601 | 29569 | OMIM:616299 | Lipoyltransferase 1 deficiency | | | | 21 | | |
HP:0010907 | HP:0010907 | Abnormal circulating proline concentration | 0 | NDUFB10 CL E G H | 4716 | 7696 | OMIM:619003 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35 | | | | | | |
HP:0010907 | HP:0010907 | Abnormal circulating proline concentration | 0 | NDUFC2 CL E G H | 4718 | 7706 | OMIM:619170 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36 | | | | | | |
HP:0010907 | HP:0010907 | Abnormal circulating proline concentration | 0 | PDP1 CL E G H | 54704 | 9279 | ORPHA:79246 | Pyruvate dehydrogenase phosphatase deficiency | | | | 52 | | |
HP:0010907 | HP:0010907 | Abnormal circulating proline concentration | 0 | PRODH CL E G H | 5625 | 9453 | ORPHA:419 | Hyperprolinemia type 1 | | | | 13 | | |
HP:0010907 | HP:0010907 | Abnormal circulating proline concentration | 0 | PRODH CL E G H | 5625 | 9453 | OMIM:239500 | Hyperprolinemia, type I | | | | 13 | | |
HP:0010907 | HP:0010907 | Abnormal circulating proline concentration | 0 | PRODH CL E G H | 5625 | 9453 | OMIM:600850 | Schizophrenia 4 | | | | 13 | | |
HP:0010907 | HP:0010907 | Abnormal circulating proline concentration | 0 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | | | | 104 | | |
HP:0010907 | HP:0010907 | Abnormal circulating proline concentration | 0 | TARS2 CL E G H | 80222 | 30740 | OMIM:615918 | Combined oxidative phosphorylation deficiency 21 | | | | 28 | | |
HP:0010907 | HP:0010907 | Abnormal circulating proline concentration | 0 | TNFRSF11B CL E G H | 4982 | 11909 | OMIM:239000 | Paget disease of bone 5, juvenile-onset | | | | 44 | | |
HP:0010907 | HP:0500140 | Decreased circulating hydroxyproline concentration | 1 | CL E G H | | | | | | | | | | |
HP:0010907 | HP:0500139 | Hypoprolinemia | 1 | CL E G H | | | | | | | | | | |
HP:0010907 | HP:0008358 | Hyperprolinemia | 1 | ALDH4A1 CL E G H | 8659 | 406 | ORPHA:79101 | Hyperprolinemia type 2 | HP:0040281 - Very frequent | | | 74 | | |
HP:0010907 | HP:0008358 | Hyperprolinemia | 1 | ALDH4A1 CL E G H | 8659 | 406 | OMIM:239510 | Hyperprolinemia, type II | . | | | 74 | | |
HP:0010907 | HP:0008358 | Hyperprolinemia | 1 | COX10 CL E G H | 1352 | 2260 | OMIM:619046 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3 | | | | 82 | | |
HP:0010907 | HP:0008358 | Hyperprolinemia | 1 | COX16 CL E G H | 51241 | 20213 | OMIM:619355 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22 | | | | | | |
HP:0010907 | HP:0008358 | Hyperprolinemia | 1 | COX5A CL E G H | 9377 | 2267 | OMIM:619064 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20 | | | | | | |
HP:0010907 | HP:0008358 | Hyperprolinemia | 1 | LIPT1 CL E G H | 51601 | 29569 | OMIM:616299 | Lipoyltransferase 1 deficiency | | | | 21 | | |
HP:0010907 | HP:0008358 | Hyperprolinemia | 1 | NDUFB10 CL E G H | 4716 | 7696 | OMIM:619003 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35 | | | | | | |
HP:0010907 | HP:0008358 | Hyperprolinemia | 1 | NDUFC2 CL E G H | 4718 | 7706 | OMIM:619170 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36 | | | | | | |
HP:0010907 | HP:0008358 | Hyperprolinemia | 1 | PDP1 CL E G H | 54704 | 9279 | ORPHA:79246 | Pyruvate dehydrogenase phosphatase deficiency | HP:0040282 - Frequent | | | 52 | | |
HP:0010907 | HP:0008358 | Hyperprolinemia | 1 | PRODH CL E G H | 5625 | 9453 | ORPHA:419 | Hyperprolinemia type 1 | HP:0040282 - Frequent | | | 13 | | |
HP:0010907 | HP:0008358 | Hyperprolinemia | 1 | PRODH CL E G H | 5625 | 9453 | OMIM:239500 | Hyperprolinemia, type I | | | | 13 | | |
HP:0010907 | HP:0008358 | Hyperprolinemia | 1 | PRODH CL E G H | 5625 | 9453 | OMIM:600850 | Schizophrenia 4 | | | | 13 | | |
HP:0010907 | HP:0008358 | Hyperprolinemia | 1 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | HP:0040282 - Frequent | | | 104 | | |
HP:0010907 | HP:0008358 | Hyperprolinemia | 1 | TARS2 CL E G H | 80222 | 30740 | OMIM:615918 | Combined oxidative phosphorylation deficiency 21 | | | | 28 | | |
HP:0010907 | HP:0003260 | Hydroxyprolinemia | 1 | TNFRSF11B CL E G H | 4982 | 11909 | OMIM:239000 | Paget disease of bone 5, juvenile-onset | | | | 44 | | |