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:0003334 | HP:0003334 | Elevated circulating catecholamine level | 0 | CCND1 CL E G H | 595 | 1582 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040283 - Occasional | | | 1 | | |
HP:0003334 | HP:0003334 | Elevated circulating catecholamine level | 0 | SDHC CL E G H | 6391 | 10682 | OMIM:605373 | Paragangliomas 3 | . | | | 147 | | |
HP:0003334 | HP:0003334 | Elevated circulating catecholamine level | 0 | SDHD CL E G H | 6392 | 10683 | OMIM:168000 | Paragangliomas 1 | . | | | 129 | | |
HP:0003334 | HP:0003334 | Elevated circulating catecholamine level | 0 | SLC25A11 CL E G H | 8402 | 10981 | OMIM:618464 | PARAGANGLIOMAS 6; PGL6 | | | | | | |
HP:0003334 | HP:0003334 | Elevated circulating catecholamine level | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040283 - Occasional | | | 490 | | |