Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0031097 | HP:0031097 | Abnormal thyroid-stimulating hormone level | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | | | | 404 | | |
HP:0031097 | HP:0031097 | Abnormal thyroid-stimulating hormone level | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | | | | 636 | | |
HP:0031097 | HP:0031097 | Abnormal thyroid-stimulating hormone level | 0 | CPE CL E G H | 1363 | 2303 | OMIM:619326 | BDV SYNDROME; BDVS | | | | | | |
HP:0031097 | HP:0031097 | Abnormal thyroid-stimulating hormone level | 0 | DCAF17 CL E G H | 80067 | 25784 | OMIM:241080 | Woodhouse-Sakati syndrome | | | | 87 | | |
HP:0031097 | HP:0031097 | Abnormal thyroid-stimulating hormone level | 0 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 121 | | |
HP:0031097 | HP:0031097 | Abnormal thyroid-stimulating hormone level | 0 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:226316 | Genetic transient congenital hypothyroidism | | | | 121 | | |
HP:0031097 | HP:0031097 | Abnormal thyroid-stimulating hormone level | 0 | DUOXA2 CL E G H | 405753 | 32698 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 11 | | |
HP:0031097 | HP:0031097 | Abnormal thyroid-stimulating hormone level | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 21 | | |
HP:0031097 | HP:0031097 | Abnormal thyroid-stimulating hormone level | 0 | IGSF1 CL E G H | 3547 | 5948 | OMIM:300888 | Hypothyroidism, central, and testicular enlargement | | | | 12 | | |
HP:0031097 | HP:0031097 | Abnormal thyroid-stimulating hormone level | 0 | IRS4 CL E G H | 8471 | 6128 | OMIM:301035 | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9; CHNG9 | | | | | | |
HP:0031097 | HP:0031097 | Abnormal thyroid-stimulating hormone level | 0 | IYD CL E G H | 389434 | 21071 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 130 | | |
HP:0031097 | HP:0031097 | Abnormal thyroid-stimulating hormone level | 0 | KCNJ18 CL E G H | 100134444 | 39080 | OMIM:613239 | Thyrotoxic periodic paralysis, susceptibility to, 2 | | | | 10 | | |
HP:0031097 | HP:0031097 | Abnormal thyroid-stimulating hormone level | 0 | LHX3 CL E G H | 8022 | 6595 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 51 | | |
HP:0031097 | HP:0031097 | Abnormal thyroid-stimulating hormone level | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 43 | | |
HP:0031097 | HP:0031097 | Abnormal thyroid-stimulating hormone level | 0 | NKX2-1 CL E G H | 7080 | 11825 | ORPHA:209905 | Brain-lung-thyroid syndrome | | | | 51 | | |
HP:0031097 | HP:0031097 | Abnormal thyroid-stimulating hormone level | 0 | NKX2-1 CL E G H | 7080 | 11825 | OMIM:610978 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress | | | | 51 | | |
HP:0031097 | HP:0031097 | Abnormal thyroid-stimulating hormone level | 0 | OTX2 CL E G H | 5015 | 8522 | OMIM:613986 | Pituitary hormone deficiency, combined, 6 | | | | 41 | | |
HP:0031097 | HP:0031097 | Abnormal thyroid-stimulating hormone level | 0 | PAX8 CL E G H | 7849 | 8622 | OMIM:218700 | Hypothyroidism, congenital, nongoitrous, 2 | | | | 63 | | |
HP:0031097 | HP:0031097 | Abnormal thyroid-stimulating hormone level | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:601812 | Premature aging syndrome, Penttinen type | | | | 28 | | |
HP:0031097 | HP:0031097 | Abnormal thyroid-stimulating hormone level | 0 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | | | | 150 | | |
HP:0031097 | HP:0031097 | Abnormal thyroid-stimulating hormone level | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 36 | | |
HP:0031097 | HP:0031097 | Abnormal thyroid-stimulating hormone level | 0 | POU1F1 CL E G H | 5449 | 9210 | OMIM:613038 | Pituitary hormone deficiency, combined, 1 | | | | 36 | | |
HP:0031097 | HP:0031097 | Abnormal thyroid-stimulating hormone level | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:101800 | Acrodysostosis 1, with or without hormone resistance | | | | 134 | | |
HP:0031097 | HP:0031097 | Abnormal thyroid-stimulating hormone level | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 54 | | |
HP:0031097 | HP:0031097 | Abnormal thyroid-stimulating hormone level | 0 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0031097 | HP:0031097 | Abnormal thyroid-stimulating hormone level | 0 | SECISBP2 CL E G H | 79048 | 30972 | ORPHA:171706 | Short stature-delayed bone age due to thyroid hormone metabolism deficiency | | | | 3 | | |
HP:0031097 | HP:0031097 | Abnormal thyroid-stimulating hormone level | 0 | SECISBP2 CL E G H | 79048 | 30972 | OMIM:609698 | Thyroid hormone metabolism, abnormal | | | | 3 | | |
HP:0031097 | HP:0031097 | Abnormal thyroid-stimulating hormone level | 0 | SLC16A2 CL E G H | 6567 | 10923 | OMIM:300523 | Allan-Herndon-Dudley syndrome | | | | 57 | | |
HP:0031097 | HP:0031097 | Abnormal thyroid-stimulating hormone level | 0 | SLC35A2 CL E G H | 7355 | 11022 | ORPHA:356961 | SLC35A2-CDG | | | | 27 | | |
HP:0031097 | HP:0031097 | Abnormal thyroid-stimulating hormone level | 0 | SLC5A5 CL E G H | 6528 | 11040 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 59 | | |
HP:0031097 | HP:0031097 | Abnormal thyroid-stimulating hormone level | 0 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | | | | 74 | | |
HP:0031097 | HP:0031097 | Abnormal thyroid-stimulating hormone level | 0 | TBL1X CL E G H | 6907 | 11585 | OMIM:301033 | Hypothyroidism, congenital, nongoitrous, 8 | | | | 1 | | |
HP:0031097 | HP:0031097 | Abnormal thyroid-stimulating hormone level | 0 | TG CL E G H | 7038 | 11764 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 155 | | |
HP:0031097 | HP:0031097 | Abnormal thyroid-stimulating hormone level | 0 | THRB CL E G H | 7068 | 11799 | OMIM:274300 | Thyroid hormone resistance, generalized, autosomal recessive | | | | 161 | | |
HP:0031097 | HP:0031097 | Abnormal thyroid-stimulating hormone level | 0 | THRB CL E G H | 7068 | 11799 | OMIM:145650 | Thyroid hormone resistance, selective pituitary | | | | 161 | | |
HP:0031097 | HP:0031097 | Abnormal thyroid-stimulating hormone level | 0 | TPO CL E G H | 7173 | 12015 | ORPHA:95716 | Familial thyroid dyshormonogenesis | | | | 92 | | |
HP:0031097 | HP:0031097 | Abnormal thyroid-stimulating hormone level | 0 | TSHB CL E G H | 7252 | 12372 | ORPHA:90674 | Isolated thyroid-stimulating hormone deficiency | | | | 9 | | |
HP:0031097 | HP:0031097 | Abnormal thyroid-stimulating hormone level | 0 | TSHR CL E G H | 7253 | 12373 | OMIM:603373 | HYPERTHYROIDISM, FAMILIAL GESTATIONAL | | | | 97 | | |
HP:0031097 | HP:0031097 | Abnormal thyroid-stimulating hormone level | 0 | TSHR CL E G H | 7253 | 12373 | ORPHA:90673 | Hypothyroidism due to TSH receptor mutations | | | | 97 | | |
HP:0031097 | HP:0031097 | Abnormal thyroid-stimulating hormone level | 0 | TSHR CL E G H | 7253 | 12373 | OMIM:275200 | Hypothyroidism, congenital, nongoitrous, 1 | | | | 97 | | |
HP:0031097 | HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration | 1 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040283 - Occasional | | | 404 | | |
HP:0031097 | HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | HP:0040281 - Very frequent | | | 636 | | |
HP:0031097 | HP:0031098 | Decreased thyroid-stimulating hormone level | 1 | CPE CL E G H | 1363 | 2303 | OMIM:619326 | BDV SYNDROME; BDVS | | | | | | |
HP:0031097 | HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration | 1 | DCAF17 CL E G H | 80067 | 25784 | OMIM:241080 | Woodhouse-Sakati syndrome | . | | | 87 | | |
HP:0031097 | HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration | 1 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040281 - Very frequent | | | 121 | | |
HP:0031097 | HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration | 1 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:226316 | Genetic transient congenital hypothyroidism | HP:0040282 - Frequent | | | 121 | | |
HP:0031097 | HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration | 1 | DUOXA2 CL E G H | 405753 | 32698 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040281 - Very frequent | | | 11 | | |
HP:0031097 | HP:0031098 | Decreased thyroid-stimulating hormone level | 1 | HESX1 CL E G H | 8820 | 4877 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040281 - Very frequent | | | 21 | | |
HP:0031097 | HP:0033075 | Inappropriately normal thyroid-stimulating hormone level | 1 | IGSF1 CL E G H | 3547 | 5948 | OMIM:300888 | Hypothyroidism, central, and testicular enlargement | | | | 12 | | |
HP:0031097 | HP:0033075 | Inappropriately normal thyroid-stimulating hormone level | 1 | IRS4 CL E G H | 8471 | 6128 | OMIM:301035 | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9; CHNG9 | | | | | | |
HP:0031097 | HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration | 1 | IYD CL E G H | 389434 | 21071 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040281 - Very frequent | | | 130 | | |
HP:0031097 | HP:0031098 | Decreased thyroid-stimulating hormone level | 1 | KCNJ18 CL E G H | 100134444 | 39080 | OMIM:613239 | Thyrotoxic periodic paralysis, susceptibility to, 2 | | | | 10 | | |
HP:0031097 | HP:0031098 | Decreased thyroid-stimulating hormone level | 1 | LHX3 CL E G H | 8022 | 6595 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040281 - Very frequent | | | 51 | | |
HP:0031097 | HP:0031098 | Decreased thyroid-stimulating hormone level | 1 | LHX4 CL E G H | 89884 | 21734 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040281 - Very frequent | | | 43 | | |
HP:0031097 | HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration | 1 | NKX2-1 CL E G H | 7080 | 11825 | ORPHA:209905 | Brain-lung-thyroid syndrome | HP:0040283 - Occasional | | | 51 | | |
HP:0031097 | HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration | 1 | NKX2-1 CL E G H | 7080 | 11825 | OMIM:610978 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress | | | | 51 | | |
HP:0031097 | HP:0031098 | Decreased thyroid-stimulating hormone level | 1 | OTX2 CL E G H | 5015 | 8522 | OMIM:613986 | Pituitary hormone deficiency, combined, 6 | | | | 41 | | |
HP:0031097 | HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration | 1 | PAX8 CL E G H | 7849 | 8622 | OMIM:218700 | Hypothyroidism, congenital, nongoitrous, 2 | . | | | 63 | | |
HP:0031097 | HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration | 1 | PDGFRB CL E G H | 5159 | 8804 | OMIM:601812 | Premature aging syndrome, Penttinen type | . | | | 28 | | |
HP:0031097 | HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration | 1 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | HP:0040283 - Occasional | | | 150 | | |
HP:0031097 | HP:0031098 | Decreased thyroid-stimulating hormone level | 1 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040281 - Very frequent | | | 36 | | |
HP:0031097 | HP:0031098 | Decreased thyroid-stimulating hormone level | 1 | POU1F1 CL E G H | 5449 | 9210 | OMIM:613038 | Pituitary hormone deficiency, combined, 1 | | | | 36 | | |
HP:0031097 | HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration | 1 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:101800 | Acrodysostosis 1, with or without hormone resistance | | | | 134 | | |
HP:0031097 | HP:0031098 | Decreased thyroid-stimulating hormone level | 1 | PROP1 CL E G H | 5626 | 9455 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040281 - Very frequent | | | 54 | | |
HP:0031097 | HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration | 1 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0031097 | HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration | 1 | SECISBP2 CL E G H | 79048 | 30972 | ORPHA:171706 | Short stature-delayed bone age due to thyroid hormone metabolism deficiency | | | | 3 | | |
HP:0031097 | HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration | 1 | SECISBP2 CL E G H | 79048 | 30972 | OMIM:609698 | Thyroid hormone metabolism, abnormal | . | | | 3 | | |
HP:0031097 | HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration | 1 | SLC16A2 CL E G H | 6567 | 10923 | OMIM:300523 | Allan-Herndon-Dudley syndrome | . | | | 57 | | |
HP:0031097 | HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration | 1 | SLC35A2 CL E G H | 7355 | 11022 | ORPHA:356961 | SLC35A2-CDG | HP:0040284 - Very rare | | | 27 | | |
HP:0031097 | HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration | 1 | SLC5A5 CL E G H | 6528 | 11040 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040281 - Very frequent | | | 59 | | |
HP:0031097 | HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration | 1 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | . | | | 74 | | |
HP:0031097 | HP:0033075 | Inappropriately normal thyroid-stimulating hormone level | 1 | TBL1X CL E G H | 6907 | 11585 | OMIM:301033 | Hypothyroidism, congenital, nongoitrous, 8 | | | | 1 | | |
HP:0031097 | HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration | 1 | TG CL E G H | 7038 | 11764 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040281 - Very frequent | | | 155 | | |
HP:0031097 | HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration | 1 | THRB CL E G H | 7068 | 11799 | OMIM:274300 | Thyroid hormone resistance, generalized, autosomal recessive | | | | 161 | | |
HP:0031097 | HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration | 1 | THRB CL E G H | 7068 | 11799 | OMIM:145650 | Thyroid hormone resistance, selective pituitary | . | | | 161 | | |
HP:0031097 | HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration | 1 | TPO CL E G H | 7173 | 12015 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040281 - Very frequent | | | 92 | | |
HP:0031097 | HP:0031098 | Decreased thyroid-stimulating hormone level | 1 | TSHB CL E G H | 7252 | 12372 | ORPHA:90674 | Isolated thyroid-stimulating hormone deficiency | HP:0040281 - Very frequent | | | 9 | | |
HP:0031097 | HP:0031098 | Decreased thyroid-stimulating hormone level | 1 | TSHR CL E G H | 7253 | 12373 | OMIM:603373 | HYPERTHYROIDISM, FAMILIAL GESTATIONAL | | | | 97 | | |
HP:0031097 | HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration | 1 | TSHR CL E G H | 7253 | 12373 | ORPHA:90673 | Hypothyroidism due to TSH receptor mutations | HP:0040281 - Very frequent | | | 97 | | |
HP:0031097 | HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration | 1 | TSHR CL E G H | 7253 | 12373 | OMIM:275200 | Hypothyroidism, congenital, nongoitrous, 1 | . | | | 97 | | |