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:0032481 | HP:0032481 | Abnormal pituitary glycoprotein hormone alpha subunit level | 0 | TSHB CL E G H | 7252 | 12372 | ORPHA:90674 | Isolated thyroid-stimulating hormone deficiency | | | | 9 | | |
HP:0032481 | HP:0032482 | Decreased pituitary glycoprotein hormone alpha subunit level | 1 | CL E G H | | | | | | | | | | |
HP:0032481 | HP:0031208 | Increased pituitary glycoprotein hormone alpha subunit level | 1 | TSHB CL E G H | 7252 | 12372 | ORPHA:90674 | Isolated thyroid-stimulating hormone deficiency | HP:0040281 - Very frequent | | | 9 | | |