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:0008291 | HP:0008291 | Pituitary corticotropic cell adenoma | 0 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | | | | 169 | | |
HP:0008291 | HP:0008291 | Pituitary corticotropic cell adenoma | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | | | | 276 | | |
HP:0008291 | HP:0008291 | Pituitary corticotropic cell adenoma | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | | | | 636 | | |
HP:0008291 | HP:0008291 | Pituitary corticotropic cell adenoma | 0 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040284 - Very rare | | | 2 | | |
HP:0008291 | HP:0008291 | Pituitary corticotropic cell adenoma | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040284 - Very rare | | | 102 | | |
HP:0008291 | HP:0008291 | Pituitary corticotropic cell adenoma | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:276152 | Multiple endocrine neoplasia type 4 | HP:0040283 - Occasional | | | 102 | | |
HP:0008291 | HP:0008291 | Pituitary corticotropic cell adenoma | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040284 - Very rare | | | 1 | | |
HP:0008291 | HP:0008291 | Pituitary corticotropic cell adenoma | 0 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040284 - Very rare | | | | | |
HP:0008291 | HP:0008291 | Pituitary corticotropic cell adenoma | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040284 - Very rare | | | 462 | | |
HP:0008291 | HP:0008291 | Pituitary corticotropic cell adenoma | 0 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | | | | 79 | | |
HP:0008291 | HP:0008291 | Pituitary corticotropic cell adenoma | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | | | | 911 | | |
HP:0008291 | HP:0008291 | Pituitary corticotropic cell adenoma | 0 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | | | | 1 | | |
HP:0008291 | HP:0008291 | Pituitary corticotropic cell adenoma | 0 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | | | | 7 | | |