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:0006779 | HP:0006779 | Alveolar rhabdomyosarcoma | 0 | DICER1 CL E G H | 23405 | 17098 | ORPHA:276399 | Familial multinodular goiter | HP:0040284 - Very rare | | | 670 | | |
HP:0006779 | HP:0006779 | Alveolar rhabdomyosarcoma | 0 | FOXO1 CL E G H | 2308 | 3819 | OMIM:268220 | Rhabdomyosarcoma 2, alveolar | . | | | 1 | | |
HP:0006779 | HP:0006779 | Alveolar rhabdomyosarcoma | 0 | KEAP1 CL E G H | 9817 | 23177 | ORPHA:276399 | Familial multinodular goiter | HP:0040284 - Very rare | | | | | |
HP:0006779 | HP:0006779 | Alveolar rhabdomyosarcoma | 0 | PAX3 CL E G H | 5077 | 8617 | OMIM:268220 | Rhabdomyosarcoma 2, alveolar | . | | | 59 | | |
HP:0006779 | HP:0006779 | Alveolar rhabdomyosarcoma | 0 | PAX7 CL E G H | 5081 | 8621 | OMIM:268220 | Rhabdomyosarcoma 2, alveolar | . | | | | | |