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:0012797 | HP:0012797 | Lymphatic vessel neoplasm | 0 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | | | | 23 | | |
HP:0012797 | HP:0012797 | Lymphatic vessel neoplasm | 0 | IFNG CL E G H | 3458 | 5438 | OMIM:613254 | Tuberous sclerosis-2 | | | | 23 | | |
HP:0012797 | HP:0012797 | Lymphatic vessel neoplasm | 0 | TSC1 CL E G H | 7248 | 12362 | ORPHA:538 | Lymphangioleiomyomatosis | | | | 1090 | | |
HP:0012797 | HP:0012797 | Lymphatic vessel neoplasm | 0 | TSC1 CL E G H | 7248 | 12362 | OMIM:606690 | LYMPHANGIOLEIOMYOMATOSIS | | | | 1090 | | |
HP:0012797 | HP:0012797 | Lymphatic vessel neoplasm | 0 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | | | | 1090 | | |
HP:0012797 | HP:0012797 | Lymphatic vessel neoplasm | 0 | TSC1 CL E G H | 7248 | 12362 | OMIM:191100 | Tuberous sclerosis-1 | | | | 1090 | | |
HP:0012797 | HP:0012797 | Lymphatic vessel neoplasm | 0 | TSC2 CL E G H | 7249 | 12363 | OMIM:606690 | LYMPHANGIOLEIOMYOMATOSIS | | | | 2738 | | |
HP:0012797 | HP:0012797 | Lymphatic vessel neoplasm | 0 | TSC2 CL E G H | 7249 | 12363 | ORPHA:538 | Lymphangioleiomyomatosis | | | | 2738 | | |
HP:0012797 | HP:0012797 | Lymphatic vessel neoplasm | 0 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | | | | 2738 | | |
HP:0012797 | HP:0012797 | Lymphatic vessel neoplasm | 0 | TSC2 CL E G H | 7249 | 12363 | OMIM:613254 | Tuberous sclerosis-2 | | | | 2738 | | |
HP:0012797 | HP:0012798 | Pulmonary lymphangiomyomatosis | 1 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 23 | | |
HP:0012797 | HP:0012798 | Pulmonary lymphangiomyomatosis | 1 | IFNG CL E G H | 3458 | 5438 | OMIM:613254 | Tuberous sclerosis-2 | | | | 23 | | |
HP:0012797 | HP:0012798 | Pulmonary lymphangiomyomatosis | 1 | TSC1 CL E G H | 7248 | 12362 | ORPHA:538 | Lymphangioleiomyomatosis | HP:0040282 - Frequent | | | 1090 | | |
HP:0012797 | HP:0012798 | Pulmonary lymphangiomyomatosis | 1 | TSC1 CL E G H | 7248 | 12362 | OMIM:606690 | LYMPHANGIOLEIOMYOMATOSIS | . | | | 1090 | | |
HP:0012797 | HP:0012798 | Pulmonary lymphangiomyomatosis | 1 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 1090 | | |
HP:0012797 | HP:0012798 | Pulmonary lymphangiomyomatosis | 1 | TSC1 CL E G H | 7248 | 12362 | OMIM:191100 | Tuberous sclerosis-1 | | | | 1090 | | |
HP:0012797 | HP:0012798 | Pulmonary lymphangiomyomatosis | 1 | TSC2 CL E G H | 7249 | 12363 | ORPHA:538 | Lymphangioleiomyomatosis | HP:0040282 - Frequent | | | 2738 | | |
HP:0012797 | HP:0012798 | Pulmonary lymphangiomyomatosis | 1 | TSC2 CL E G H | 7249 | 12363 | OMIM:606690 | LYMPHANGIOLEIOMYOMATOSIS | . | | | 2738 | | |
HP:0012797 | HP:0012798 | Pulmonary lymphangiomyomatosis | 1 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | HP:0040282 - Frequent | | | 2738 | | |
HP:0012797 | HP:0012798 | Pulmonary lymphangiomyomatosis | 1 | TSC2 CL E G H | 7249 | 12363 | OMIM:613254 | Tuberous sclerosis-2 | | | | 2738 | | |