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:0008200 | HP:0008200 | Primary hyperparathyroidism | 0 | AP2S1 CL E G H | 1175 | 565 | OMIM:600740 | Hypocalciuric hypercalcemia, familial, type III | . | | | 6 | | |
HP:0008200 | HP:0008200 | Primary hyperparathyroidism | 0 | ARMC5 CL E G H | 79798 | 25781 | ORPHA:189427 | Cushing syndrome due to macronodular adrenal hyperplasia | | | | 7 | | |
HP:0008200 | HP:0008200 | Primary hyperparathyroidism | 0 | CASR CL E G H | 846 | 1514 | OMIM:239200 | Hyperparathyroidism, neonatal severe | . | | | 272 | | |
HP:0008200 | HP:0008200 | Primary hyperparathyroidism | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:99879 | Familial isolated hyperparathyroidism | HP:0040281 - Very frequent | | | 169 | | |
HP:0008200 | HP:0008200 | Primary hyperparathyroidism | 0 | CDC73 CL E G H | 79577 | 16783 | OMIM:145000 | Hyperparathyroidism 1 | . | | | 169 | | |
HP:0008200 | HP:0008200 | Primary hyperparathyroidism | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:99880 | Hyperparathyroidism-jaw tumor syndrome | HP:0040280 - Obligate | | | 169 | | |
HP:0008200 | HP:0008200 | Primary hyperparathyroidism | 0 | CDC73 CL E G H | 79577 | 16783 | ORPHA:143 | Parathyroid carcinoma | HP:0040280 - Obligate | | | 169 | | |
HP:0008200 | HP:0008200 | Primary hyperparathyroidism | 0 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040281 - Very frequent | | | 2 | | |
HP:0008200 | HP:0008200 | Primary hyperparathyroidism | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040281 - Very frequent | | | 102 | | |
HP:0008200 | HP:0008200 | Primary hyperparathyroidism | 0 | CDKN1B CL E G H | 1027 | 1785 | OMIM:610755 | Multiple endocrine neoplasia, type IV | | | | 102 | | |
HP:0008200 | HP:0008200 | Primary hyperparathyroidism | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040281 - Very frequent | | | 1 | | |
HP:0008200 | HP:0008200 | Primary hyperparathyroidism | 0 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040281 - Very frequent | | | | | |
HP:0008200 | HP:0008200 | Primary hyperparathyroidism | 0 | GCM2 CL E G H | 9247 | 4198 | ORPHA:99879 | Familial isolated hyperparathyroidism | HP:0040281 - Very frequent | | | 51 | | |
HP:0008200 | HP:0008200 | Primary hyperparathyroidism | 0 | GCM2 CL E G H | 9247 | 4198 | OMIM:617343 | Hyperparathyroidism 4 | . | | | 51 | | |
HP:0008200 | HP:0008200 | Primary hyperparathyroidism | 0 | GNA11 CL E G H | 2767 | 4379 | OMIM:145981 | Hypocalciuric hypercalcemia, familial, type II | . | | | 16 | | |
HP:0008200 | HP:0008200 | Primary hyperparathyroidism | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:189427 | Cushing syndrome due to macronodular adrenal hyperplasia | | | | 101 | | |
HP:0008200 | HP:0008200 | Primary hyperparathyroidism | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:99879 | Familial isolated hyperparathyroidism | HP:0040281 - Very frequent | | | 462 | | |
HP:0008200 | HP:0008200 | Primary hyperparathyroidism | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:97279 | Insulinoma | HP:0040282 - Frequent | | | 462 | | |
HP:0008200 | HP:0008200 | Primary hyperparathyroidism | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040281 - Very frequent | | | 462 | | |
HP:0008200 | HP:0008200 | Primary hyperparathyroidism | 0 | YY1 CL E G H | 7528 | 12856 | ORPHA:97279 | Insulinoma | HP:0040282 - Frequent | | | 7 | | |