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:0011133 | HP:0011133 | Increased sensitivity to ionizing radiation | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | HP:0040281 - Very frequent | | | 54 | | |
HP:0011133 | HP:0011133 | Increased sensitivity to ionizing radiation | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | HP:0040281 - Very frequent | | | 184 | | |
HP:0011133 | HP:0011133 | Increased sensitivity to ionizing radiation | 0 | MRE11 CL E G H | 4361 | 7230 | OMIM:604391 | Ataxia-Telangiectasia-Like disorder 1 | . | | | 532 | | |
HP:0011133 | HP:0011133 | Increased sensitivity to ionizing radiation | 0 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | HP:0040281 - Very frequent | | | 220 | | |
HP:0011133 | HP:0011133 | Increased sensitivity to ionizing radiation | 0 | NSMCE3 CL E G H | 56160 | 7677 | OMIM:617241 | LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS | | | | 2 | | |
HP:0011133 | HP:0011133 | Increased sensitivity to ionizing radiation | 0 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | HP:0040281 - Very frequent | | | 9 | | |
HP:0011133 | HP:0011133 | Increased sensitivity to ionizing radiation | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | HP:0040281 - Very frequent | | | 162 | | |
HP:0011133 | HP:0011133 | Increased sensitivity to ionizing radiation | 0 | RNF168 CL E G H | 165918 | 26661 | OMIM:611943 | Riddle syndrome | | | | 7 | | |
HP:0011133 | HP:0011133 | Increased sensitivity to ionizing radiation | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | HP:0040281 - Very frequent | | | 87 | | |
HP:0011133 | HP:0011133 | Increased sensitivity to ionizing radiation | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | HP:0040281 - Very frequent | | | 47 | | |
HP:0011133 | HP:0011133 | Increased sensitivity to ionizing radiation | 0 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | HP:0040281 - Very frequent | | | 22 | | |
HP:0011133 | HP:0011133 | Increased sensitivity to ionizing radiation | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | HP:0040281 - Very frequent | | | 124 | | |
HP:0011133 | HP:0011133 | Increased sensitivity to ionizing radiation | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | HP:0040281 - Very frequent | | | 238 | | |
HP:0011133 | HP:0011133 | Increased sensitivity to ionizing radiation | 0 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | HP:0040281 - Very frequent | | | | | |