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:0031891 | HP:0031891 | Decreased eosinophil count | 0 | ATRX CL E G H | 546 | 886 | ORPHA:96253 | Cushing disease | | | | 169 | | |
HP:0031891 | HP:0031891 | Decreased eosinophil count | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:96253 | Cushing disease | | | | 276 | | |
HP:0031891 | HP:0031891 | Decreased eosinophil count | 0 | CARD10 CL E G H | 29775 | 16422 | OMIM:619632 | IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD89 | | | | 5 | | |
HP:0031891 | HP:0031891 | Decreased eosinophil count | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:96253 | Cushing disease | | | | 636 | | |
HP:0031891 | HP:0031891 | Decreased eosinophil count | 0 | ELANE CL E G H | 1991 | 3309 | ORPHA:2686 | Cyclic neutropenia | HP:0040283 - Occasional | | | 79 | | |
HP:0031891 | HP:0031891 | Decreased eosinophil count | 0 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:96253 | Cushing disease | | | | 79 | | |
HP:0031891 | HP:0031891 | Decreased eosinophil count | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:96253 | Cushing disease | | | | 911 | | |
HP:0031891 | HP:0031891 | Decreased eosinophil count | 0 | USP48 CL E G H | 84196 | 18533 | ORPHA:96253 | Cushing disease | | | | 1 | | |
HP:0031891 | HP:0031891 | Decreased eosinophil count | 0 | USP8 CL E G H | 9101 | 12631 | ORPHA:96253 | Cushing disease | | | | 7 | | |