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:0012278 | HP:0012278 | Abnormal circulating serine concentration | 0 | PHGDH CL E G H | 26227 | 8923 | ORPHA:79351 | 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form | | | | 37 | | |
HP:0012278 | HP:0012278 | Abnormal circulating serine concentration | 0 | PSAT1 CL E G H | 29968 | 19129 | OMIM:610992 | Phosphoserine aminotransferase deficiency | | | | 27 | | |
HP:0012278 | HP:0012278 | Abnormal circulating serine concentration | 0 | PSAT1 CL E G H | 29968 | 19129 | ORPHA:284417 | Phosphoserine aminotransferase deficiency, infantile/juvenile form | | | | 27 | | |
HP:0012278 | HP:0012278 | Abnormal circulating serine concentration | 0 | PSPH CL E G H | 5723 | 9577 | ORPHA:79350 | 3-phosphoserine phosphatase deficiency, infantile/juvenile form | | | | 54 | | |
HP:0012278 | HP:0012278 | Abnormal circulating serine concentration | 0 | SLC25A13 CL E G H | 10165 | 10983 | ORPHA:247598 | Neonatal intrahepatic cholestasis due to citrin deficiency | HP:0040283 - Occasional | | | 82 | | |
HP:0012278 | HP:0012278 | Abnormal circulating serine concentration | 0 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | HP:0040282 - Frequent | | | 104 | | |
HP:0012278 | HP:0500138 | Hyperserinemia | 1 | CL E G H | | | | | | | | | | |
HP:0012278 | HP:0012279 | Hyposerinemia | 1 | PHGDH CL E G H | 26227 | 8923 | ORPHA:79351 | 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form | HP:0040281 - Very frequent | | | 37 | | |
HP:0012278 | HP:0012279 | Hyposerinemia | 1 | PSAT1 CL E G H | 29968 | 19129 | OMIM:610992 | Phosphoserine aminotransferase deficiency | . | | | 27 | | |
HP:0012278 | HP:0012279 | Hyposerinemia | 1 | PSAT1 CL E G H | 29968 | 19129 | ORPHA:284417 | Phosphoserine aminotransferase deficiency, infantile/juvenile form | HP:0040281 - Very frequent | | | 27 | | |
HP:0012278 | HP:0012279 | Hyposerinemia | 1 | PSPH CL E G H | 5723 | 9577 | ORPHA:79350 | 3-phosphoserine phosphatase deficiency, infantile/juvenile form | HP:0040282 - Frequent | | | 54 | | |