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:0007129 | HP:0007129 | Cerebellar medulloblastoma | 0 | APC CL E G H | 324 | 583 | ORPHA:99818 | Turcot syndrome with polyposis | HP:0040282 - Frequent | | | 3179 | | |
HP:0007129 | HP:0007129 | Cerebellar medulloblastoma | 0 | DICER1 CL E G H | 23405 | 17098 | ORPHA:276399 | Familial multinodular goiter | HP:0040284 - Very rare | | | 670 | | |
HP:0007129 | HP:0007129 | Cerebellar medulloblastoma | 0 | KEAP1 CL E G H | 9817 | 23177 | ORPHA:276399 | Familial multinodular goiter | HP:0040284 - Very rare | | | | | |