Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0005522 | HP:0005522 | Pyridoxine-responsive sideroblastic anemia | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 5769 | | |
HP:0005522 | HP:0005522 | Pyridoxine-responsive sideroblastic anemia | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 7642 | | |
HP:0005522 | HP:0005522 | Pyridoxine-responsive sideroblastic anemia | 0 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 1086 | | |
HP:0005522 | HP:0005522 | Pyridoxine-responsive sideroblastic anemia | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 158 | | |
HP:0005522 | HP:0005522 | Pyridoxine-responsive sideroblastic anemia | 0 | FANCA CL E G H | 2175 | 3582 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 340 | | |
HP:0005522 | HP:0005522 | Pyridoxine-responsive sideroblastic anemia | 0 | FANCB CL E G H | 2187 | 3583 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 58 | | |
HP:0005522 | HP:0005522 | Pyridoxine-responsive sideroblastic anemia | 0 | FANCC CL E G H | 2176 | 3584 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 410 | | |
HP:0005522 | HP:0005522 | Pyridoxine-responsive sideroblastic anemia | 0 | FANCD2 CL E G H | 2177 | 3585 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 147 | | |
HP:0005522 | HP:0005522 | Pyridoxine-responsive sideroblastic anemia | 0 | FANCE CL E G H | 2178 | 3586 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 73 | | |
HP:0005522 | HP:0005522 | Pyridoxine-responsive sideroblastic anemia | 0 | FANCF CL E G H | 2188 | 3587 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 87 | | |
HP:0005522 | HP:0005522 | Pyridoxine-responsive sideroblastic anemia | 0 | FANCG CL E G H | 2189 | 3588 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 73 | | |
HP:0005522 | HP:0005522 | Pyridoxine-responsive sideroblastic anemia | 0 | FANCI CL E G H | 55215 | 25568 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 157 | | |
HP:0005522 | HP:0005522 | Pyridoxine-responsive sideroblastic anemia | 0 | FANCL CL E G H | 55120 | 20748 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 53 | | |
HP:0005522 | HP:0005522 | Pyridoxine-responsive sideroblastic anemia | 0 | FANCM CL E G H | 57697 | 23168 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 107 | | |
HP:0005522 | HP:0005522 | Pyridoxine-responsive sideroblastic anemia | 0 | MAD2L2 CL E G H | 10459 | 6764 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 1 | | |
HP:0005522 | HP:0005522 | Pyridoxine-responsive sideroblastic anemia | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 1349 | | |
HP:0005522 | HP:0005522 | Pyridoxine-responsive sideroblastic anemia | 0 | PNPO CL E G H | 55163 | 30260 | ORPHA:79096 | Pyridoxal phosphate-responsive seizures | HP:0040283 - Occasional | | | 92 | | |
HP:0005522 | HP:0005522 | Pyridoxine-responsive sideroblastic anemia | 0 | RAD51 CL E G H | 5888 | 9817 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 9 | | |
HP:0005522 | HP:0005522 | Pyridoxine-responsive sideroblastic anemia | 0 | RAD51C CL E G H | 5889 | 9820 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 391 | | |
HP:0005522 | HP:0005522 | Pyridoxine-responsive sideroblastic anemia | 0 | RFWD3 CL E G H | 55159 | 25539 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | | | |
HP:0005522 | HP:0005522 | Pyridoxine-responsive sideroblastic anemia | 0 | SLX4 CL E G H | 84464 | 23845 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 274 | | |
HP:0005522 | HP:0005522 | Pyridoxine-responsive sideroblastic anemia | 0 | UBE2T CL E G H | 29089 | 25009 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 2 | | |
HP:0005522 | HP:0005522 | Pyridoxine-responsive sideroblastic anemia | 0 | XRCC2 CL E G H | 7516 | 12829 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 125 | | |