Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0100684 | HP:0100684 | Salivary gland neoplasm | 0 | PLAG1 CL E G H | 5324 | 181030 | Pleomorphic adenoma of salivary gland | 181030 | C1519176 | OMIM | 1 | | 43 | 9045 | 603026 |
HP:0100684 | HP:0031523 | Salivary gland oncocytoma | 1 | PLAG1 CL E G H | 5324 | 181030 | Pleomorphic adenoma of salivary gland | 181030 | C1519176 | OMIM | 1 | | 43 | 9045 | 603026 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0100684 | HP:0100684 | Salivary gland neoplasm | 0 | MLH1 CL E G H | 4292 | 587 | Al Gazali Sabrinathan Nair syndrome | | | ORPHA | 0 | | 4826 | 7127 | 120436 |
HP:0100684 | HP:0100684 | Salivary gland neoplasm | 0 | MSH2 CL E G H | 4436 | 587 | Al Gazali Sabrinathan Nair syndrome | | | ORPHA | 0 | | 6374 | 7325 | 609309 |
HP:0100684 | HP:0100684 | Salivary gland neoplasm | 0 | MSH6 CL E G H | 2956 | 587 | Al Gazali Sabrinathan Nair syndrome | | | ORPHA | 0 | | 7706 | 7329 | 600678 |
HP:0100684 | HP:0031523 | Salivary gland oncocytoma | 1 | MLH1 CL E G H | 4292 | 587 | Al Gazali Sabrinathan Nair syndrome | | | ORPHA | 0 | | 4826 | 7127 | 120436 |
HP:0100684 | HP:0031523 | Salivary gland oncocytoma | 1 | MSH2 CL E G H | 4436 | 587 | Al Gazali Sabrinathan Nair syndrome | | | ORPHA | 0 | | 6374 | 7325 | 609309 |
HP:0100684 | HP:0031523 | Salivary gland oncocytoma | 1 | MSH6 CL E G H | 2956 | 587 | Al Gazali Sabrinathan Nair syndrome | | | ORPHA | 0 | | 7706 | 7329 | 600678 |