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:0008282 | HP:0008282 | Unconjugated hyperbilirubinemia | 0 | CASK CL E G H | 8573 | 1497 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | | | | 118 | | |
HP:0008282 | HP:0008282 | Unconjugated hyperbilirubinemia | 0 | FARSB CL E G H | 10056 | 17800 | OMIM:613658 | Rajab interstitial lung disease with brain calcifications | | | | | | |
HP:0008282 | HP:0008282 | Unconjugated hyperbilirubinemia | 0 | G6PD CL E G H | 2539 | 4057 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | | | | 101 | | |
HP:0008282 | HP:0008282 | Unconjugated hyperbilirubinemia | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040282 - Frequent | | | 29 | | |
HP:0008282 | HP:0008282 | Unconjugated hyperbilirubinemia | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:232 | Sickle cell anemia | HP:0040283 - Occasional | | | 580 | | |
HP:0008282 | HP:0008282 | Unconjugated hyperbilirubinemia | 0 | KLF1 CL E G H | 10661 | 6345 | OMIM:613673 | Anemia, dyserythropoietic congenital, type IV | | | | 42 | | |
HP:0008282 | HP:0008282 | Unconjugated hyperbilirubinemia | 0 | NHLRC2 CL E G H | 374354 | 24731 | OMIM:618278 | Fibrosis, neurodegeneration, and cerebral angiomatosis | | | | | | |
HP:0008282 | HP:0008282 | Unconjugated hyperbilirubinemia | 0 | PIGA CL E G H | 5277 | 8957 | ORPHA:447 | Paroxysmal nocturnal hemoglobinuria | HP:0040282 - Frequent | | | 46 | | |
HP:0008282 | HP:0008282 | Unconjugated hyperbilirubinemia | 0 | PKLR CL E G H | 5313 | 9020 | ORPHA:766 | Hemolytic anemia due to red cell pyruvate kinase deficiency | HP:0040281 - Very frequent | | | 51 | | |
HP:0008282 | HP:0008282 | Unconjugated hyperbilirubinemia | 0 | PKLR CL E G H | 5313 | 9020 | OMIM:266200 | Pyruvate kinase deficiency of red cells | . | | | 51 | | |
HP:0008282 | HP:0008282 | Unconjugated hyperbilirubinemia | 0 | RHAG CL E G H | 6005 | 10006 | OMIM:268150 | Anemia, hemolytic, Rh-null, Regulator type | . | | | 13 | | |
HP:0008282 | HP:0008282 | Unconjugated hyperbilirubinemia | 0 | SLC30A10 CL E G H | 55532 | 25355 | OMIM:613280 | Hypermanganesemia with dystonia 1 | | | | 42 | | |
HP:0008282 | HP:0008282 | Unconjugated hyperbilirubinemia | 0 | UGT1A1 CL E G H | 54658 | 12530 | ORPHA:79234 | Crigler-Najjar syndrome type 1 | HP:0040281 - Very frequent | | | 73 | | |
HP:0008282 | HP:0008282 | Unconjugated hyperbilirubinemia | 0 | UGT1A1 CL E G H | 54658 | 12530 | ORPHA:79235 | Crigler-Najjar syndrome type 2 | HP:0040281 - Very frequent | | | 73 | | |
HP:0008282 | HP:0008282 | Unconjugated hyperbilirubinemia | 0 | UGT1A1 CL E G H | 54658 | 12530 | OMIM:218800 | Crigler-Najjar syndrome, type I | | | | 73 | | |
HP:0008282 | HP:0008282 | Unconjugated hyperbilirubinemia | 0 | UGT1A1 CL E G H | 54658 | 12530 | OMIM:606785 | Crigler-najjar syndrome, type II | . | | | 73 | | |
HP:0008282 | HP:0008282 | Unconjugated hyperbilirubinemia | 0 | UROS CL E G H | 7390 | 12592 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040282 - Frequent | | | 41 | | |