Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025483	HP:0025483	Abnormal circulating thyroglobulin level	0	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	121
HP:0025483	HP:0025483	Abnormal circulating thyroglobulin level	0	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism		121
HP:0025483	HP:0025483	Abnormal circulating thyroglobulin level	0	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	11
HP:0025483	HP:0025483	Abnormal circulating thyroglobulin level	0	FOXI1 CL E G H	2299	3815	OMIM:274600	Pendred syndrome		33
HP:0025483	HP:0025483	Abnormal circulating thyroglobulin level	0	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	130
HP:0025483	HP:0025483	Abnormal circulating thyroglobulin level	0	KCNJ10 CL E G H	3766	6256	OMIM:274600	Pendred syndrome		121
HP:0025483	HP:0025483	Abnormal circulating thyroglobulin level	0	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2		63
HP:0025483	HP:0025483	Abnormal circulating thyroglobulin level	0	SLC26A4 CL E G H	5172	8818	OMIM:274600	Pendred syndrome		274
HP:0025483	HP:0025483	Abnormal circulating thyroglobulin level	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG		27
HP:0025483	HP:0025483	Abnormal circulating thyroglobulin level	0	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	59
HP:0025483	HP:0025483	Abnormal circulating thyroglobulin level	0	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	155
HP:0025483	HP:0025483	Abnormal circulating thyroglobulin level	0	THRB CL E G H	7068	11799	OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant		161
HP:0025483	HP:0025483	Abnormal circulating thyroglobulin level	0	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040283 - Occasional	92
HP:0025483	HP:0025483	Abnormal circulating thyroglobulin level	0	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome	HP:0040282 - Frequent	2
HP:0025483	HP:0025483	Abnormal circulating thyroglobulin level	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040281 - Very frequent	9
HP:0025483	HP:0025483	Abnormal circulating thyroglobulin level	0	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations		97
HP:0025483	HP:0025484	Increased circulating thyroglobulin level	1	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism	HP:0040282 - Frequent	121
HP:0025483	HP:0025484	Increased circulating thyroglobulin level	1	FOXI1 CL E G H	2299	3815	OMIM:274600	Pendred syndrome		33
HP:0025483	HP:0025484	Increased circulating thyroglobulin level	1	KCNJ10 CL E G H	3766	6256	OMIM:274600	Pendred syndrome		121
HP:0025483	HP:0025484	Increased circulating thyroglobulin level	1	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2		63
HP:0025483	HP:0025484	Increased circulating thyroglobulin level	1	SLC26A4 CL E G H	5172	8818	OMIM:274600	Pendred syndrome		274
HP:0025483	HP:0025484	Increased circulating thyroglobulin level	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040284 - Very rare	27
HP:0025483	HP:0025484	Increased circulating thyroglobulin level	1	THRB CL E G H	7068	11799	OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant		161
HP:0025483	HP:0025484	Increased circulating thyroglobulin level	1	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations	HP:0040282 - Frequent	97