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:0410266 | HP:0410266 | Visceral hemangioma | 0 | CCND1 CL E G H | 595 | 1582 | OMIM:193300 | Von hippel-lindau syndrome | | | | 1 | | |
HP:0410266 | HP:0410266 | Visceral hemangioma | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0410266 | HP:0410266 | Visceral hemangioma | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0410266 | HP:0410266 | Visceral hemangioma | 0 | VHL CL E G H | 7428 | 12687 | OMIM:193300 | Von hippel-lindau syndrome | | | | 490 | | |
HP:0410266 | HP:0410267 | Intestinal hemangioma | 1 | CL E G H | | | | | | | | | | |
HP:0410266 | HP:0011673 | Cardiac hemangioma | 1 | CL E G H | | | | | | | | | | |
HP:0410266 | HP:0031207 | Hepatic hemangioma | 1 | CCND1 CL E G H | 595 | 1582 | OMIM:193300 | Von hippel-lindau syndrome | | | | 1 | | |
HP:0410266 | HP:0031207 | Hepatic hemangioma | 1 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0410266 | HP:0031207 | Hepatic hemangioma | 1 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0410266 | HP:0031207 | Hepatic hemangioma | 1 | VHL CL E G H | 7428 | 12687 | OMIM:193300 | Von hippel-lindau syndrome | | | | 490 | | |