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:0005505 | HP:0005505 | Refractory anemia | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:157794 | Hereditary mixed polyposis syndrome | HP:0040282 - Frequent | | | 385 | | |
HP:0005505 | HP:0005505 | Refractory anemia | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:79076 | Juvenile polyposis of infancy | HP:0040282 - Frequent | | | 385 | | |
HP:0005505 | HP:0005505 | Refractory anemia | 0 | CP CL E G H | 1356 | 2295 | ORPHA:48818 | Aceruloplasminemia | HP:0040281 - Very frequent | | | 115 | | |
HP:0005505 | HP:0005505 | Refractory anemia | 0 | DDX41 CL E G H | 51428 | 18674 | OMIM:616871 | Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to | | | | 23 | | |
HP:0005505 | HP:0005505 | Refractory anemia | 0 | GREM1 CL E G H | 26585 | 2001 | ORPHA:157794 | Hereditary mixed polyposis syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0005505 | HP:0005505 | Refractory anemia | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:79076 | Juvenile polyposis of infancy | HP:0040282 - Frequent | | | 948 | | |
HP:0005505 | HP:0005505 | Refractory anemia | 0 | TBXAS1 CL E G H | 6916 | 11609 | OMIM:231095 | Ghosal hematodiaphyseal dysplasia | . | | | 16 | | |