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:0010908 | HP:0010908 | Abnormal circulating lysine concentration | 0 | AASS CL E G H | 10157 | 17366 | ORPHA:2203 | Hyperlysinemia | | | | 15 | | |
HP:0010908 | HP:0010908 | Abnormal circulating lysine concentration | 0 | AASS CL E G H | 10157 | 17366 | OMIM:238700 | Hyperlysinemia, type I | | | | 15 | | |
HP:0010908 | HP:0010908 | Abnormal circulating lysine concentration | 0 | AASS CL E G H | 10157 | 17366 | ORPHA:3124 | Saccharopinuria | | | | 15 | | |
HP:0010908 | HP:0010908 | Abnormal circulating lysine concentration | 0 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | | | | 14 | | |
HP:0010908 | HP:0010908 | Abnormal circulating lysine concentration | 0 | NADK2 CL E G H | 133686 | 26404 | OMIM:616034 | 2,4-Dienoyl-Coa reductase deficiency | | | | 14 | | |
HP:0010908 | HP:0010908 | Abnormal circulating lysine concentration | 0 | NADK2 CL E G H | 133686 | 26404 | ORPHA:431361 | Progressive encephalopathy with leukodystrophy due to DECR deficiency | | | | 14 | | |
HP:0010908 | HP:0010908 | Abnormal circulating lysine concentration | 0 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247598 | Neonatal intrahepatic cholestasis due to citrin deficiency | | | | 82 | | |
HP:0010908 | HP:0034463 | Hydroxylysinemia | 1 | CL E G H | | | | | | | | | | |
HP:0010908 | HP:0500142 | Hypolysinemia | 1 | CL E G H | | | | | | | | | | |
HP:0010908 | HP:0002161 | Hyperlysinemia | 1 | AASS CL E G H | 10157 | 17366 | ORPHA:2203 | Hyperlysinemia | HP:0040282 - Frequent | | | 15 | | |
HP:0010908 | HP:0002161 | Hyperlysinemia | 1 | AASS CL E G H | 10157 | 17366 | OMIM:238700 | Hyperlysinemia, type I | . | | | 15 | | |
HP:0010908 | HP:0002161 | Hyperlysinemia | 1 | AASS CL E G H | 10157 | 17366 | ORPHA:3124 | Saccharopinuria | HP:0040281 - Very frequent | | | 15 | | |
HP:0010908 | HP:0002161 | Hyperlysinemia | 1 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | | | | 14 | | |
HP:0010908 | HP:0002161 | Hyperlysinemia | 1 | NADK2 CL E G H | 133686 | 26404 | OMIM:616034 | 2,4-Dienoyl-Coa reductase deficiency | . | | | 14 | | |
HP:0010908 | HP:0002161 | Hyperlysinemia | 1 | NADK2 CL E G H | 133686 | 26404 | ORPHA:431361 | Progressive encephalopathy with leukodystrophy due to DECR deficiency | HP:0040282 - Frequent | | | 14 | | |
HP:0010908 | HP:0002161 | Hyperlysinemia | 1 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247598 | Neonatal intrahepatic cholestasis due to citrin deficiency | HP:0040282 - Frequent | | | 82 | | |