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:0008208 | HP:0008208 | Parathyroid hyperplasia | 0 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040281 - Very frequent | | | 2 | | |
HP:0008208 | HP:0008208 | Parathyroid hyperplasia | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040281 - Very frequent | | | 102 | | |
HP:0008208 | HP:0008208 | Parathyroid hyperplasia | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | HP:0040281 - Very frequent | | | 102 | | |
HP:0008208 | HP:0008208 | Parathyroid hyperplasia | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040281 - Very frequent | | | 1 | | |
HP:0008208 | HP:0008208 | Parathyroid hyperplasia | 0 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040281 - Very frequent | | | | | |
HP:0008208 | HP:0008208 | Parathyroid hyperplasia | 0 | IFNG CL E G H | 3458 | 5438 | ORPHA:805 | Tuberous sclerosis complex | HP:0040284 - Very rare | | | 23 | | |
HP:0008208 | HP:0008208 | Parathyroid hyperplasia | 0 | KL CL E G H | 9365 | 6344 | OMIM:617994 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3 | | | | 68 | | |
HP:0008208 | HP:0008208 | Parathyroid hyperplasia | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040281 - Very frequent | | | 462 | | |
HP:0008208 | HP:0008208 | Parathyroid hyperplasia | 0 | RET CL E G H | 5979 | 9967 | OMIM:162300 | Multiple endocrine neoplasia, type IIB | . | | | 572 | | |
HP:0008208 | HP:0008208 | Parathyroid hyperplasia | 0 | TSC1 CL E G H | 7248 | 12362 | ORPHA:805 | Tuberous sclerosis complex | HP:0040284 - Very rare | | | 1090 | | |
HP:0008208 | HP:0008208 | Parathyroid hyperplasia | 0 | TSC2 CL E G H | 7249 | 12363 | ORPHA:805 | Tuberous sclerosis complex | HP:0040284 - Very rare | | | 2738 | | |