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:0025484 | HP:0025484 | Increased circulating thyroglobulin level | 0 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:226316 | Genetic transient congenital hypothyroidism | HP:0040282 - Frequent | | | 121 | | |
HP:0025484 | HP:0025484 | Increased circulating thyroglobulin level | 0 | FOXI1 CL E G H | 2299 | 3815 | OMIM:274600 | Pendred syndrome | | | | 33 | | |
HP:0025484 | HP:0025484 | Increased circulating thyroglobulin level | 0 | KCNJ10 CL E G H | 3766 | 6256 | OMIM:274600 | Pendred syndrome | | | | 121 | | |
HP:0025484 | HP:0025484 | Increased circulating thyroglobulin level | 0 | PAX8 CL E G H | 7849 | 8622 | OMIM:218700 | Hypothyroidism, congenital, nongoitrous, 2 | | | | 63 | | |
HP:0025484 | HP:0025484 | Increased circulating thyroglobulin level | 0 | SLC26A4 CL E G H | 5172 | 8818 | OMIM:274600 | Pendred syndrome | | | | 274 | | |
HP:0025484 | HP:0025484 | Increased circulating thyroglobulin level | 0 | SLC35A2 CL E G H | 7355 | 11022 | ORPHA:356961 | SLC35A2-CDG | HP:0040284 - Very rare | | | 27 | | |
HP:0025484 | HP:0025484 | Increased circulating thyroglobulin level | 0 | THRB CL E G H | 7068 | 11799 | OMIM:188570 | Thyroid hormone resistance, generalized, autosomal dominant | | | | 161 | | |
HP:0025484 | HP:0025484 | Increased circulating thyroglobulin level | 0 | TSHR CL E G H | 7253 | 12373 | ORPHA:90673 | Hypothyroidism due to TSH receptor mutations | HP:0040282 - Frequent | | | 97 | | |