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:0000853	HP:0000853	Goiter	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	54
HP:0000853	HP:0000853	Goiter	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.	54
HP:0000853	HP:0000853	Goiter	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome		404
HP:0000853	HP:0000853	Goiter	0	CACNA1S CL E G H	779	1397	OMIM:188580	Thyrotoxic periodic paralysis, susceptibility to, 1	.	247
HP:0000853	HP:0000853	Goiter	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040281 - Very frequent	636
HP:0000853	HP:0000853	Goiter	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	2
HP:0000853	HP:0000853	Goiter	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	102
HP:0000853	HP:0000853	Goiter	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	1
HP:0000853	HP:0000853	Goiter	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0000853	HP:0000853	Goiter	0	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter		670
HP:0000853	HP:0000853	Goiter	0	DICER1 CL E G H	23405	17098	OMIM:138800	Goiter, multinodular 1		670
HP:0000853	HP:0000853	Goiter	0	DICER1 CL E G H	23405	17098	OMIM:180295	RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2		670
HP:0000853	HP:0000853	Goiter	0	DNAH1 CL E G H	25981	2940	OMIM:617577	Ciliary dyskinesia, primary, 37	.	21
HP:0000853	HP:0000853	Goiter	0	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	121
HP:0000853	HP:0000853	Goiter	0	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism	HP:0040282 - Frequent	121
HP:0000853	HP:0000853	Goiter	0	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	11
HP:0000853	HP:0000853	Goiter	0	DUOXA2 CL E G H	405753	32698	OMIM:274900	Thyroid hormonogenesis, genetic defect in, 5	.	11
HP:0000853	HP:0000853	Goiter	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0000853	HP:0000853	Goiter	0	FOXE1 CL E G H	2304	3806	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040282 - Frequent	9
HP:0000853	HP:0000853	Goiter	0	FOXE1 CL E G H	2304	3806	OMIM:616534	Thyroid cancer, nonmedullary, 4	.	9
HP:0000853	HP:0000853	Goiter	0	FOXI1 CL E G H	2299	3815	OMIM:274600	Pendred syndrome	.	33
HP:0000853	HP:0000853	Goiter	0	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome	HP:0040282 - Frequent	33
HP:0000853	HP:0000853	Goiter	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040283 - Occasional	101
HP:0000853	HP:0000853	Goiter	0	HABP2 CL E G H	3026	4798	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040282 - Frequent	58
HP:0000853	HP:0000853	Goiter	0	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome	HP:0040283 - Occasional	15
HP:0000853	HP:0000853	Goiter	0	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome	HP:0040283 - Occasional	29
HP:0000853	HP:0000853	Goiter	0	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	130
HP:0000853	HP:0000853	Goiter	0	IYD CL E G H	389434	21071	OMIM:274800	Thyroid hormonogenesis, genetic defect in, 4	.	130
HP:0000853	HP:0000853	Goiter	0	KCNJ10 CL E G H	3766	6256	OMIM:274600	Pendred syndrome	.	121
HP:0000853	HP:0000853	Goiter	0	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome	HP:0040282 - Frequent	121
HP:0000853	HP:0000853	Goiter	0	KCNJ18 CL E G H	100134444	39080	OMIM:613239	Thyrotoxic periodic paralysis, susceptibility to, 2	.	10
HP:0000853	HP:0000853	Goiter	0	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter
HP:0000853	HP:0000853	Goiter	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	1
HP:0000853	HP:0000853	Goiter	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	462
HP:0000853	HP:0000853	Goiter	0	MINPP1 CL E G H	9562	7102	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040282 - Frequent	3
HP:0000853	HP:0000853	Goiter	0	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum		2
HP:0000853	HP:0000853	Goiter	0	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum		64
HP:0000853	HP:0000853	Goiter	0	NKX2-1 CL E G H	7080	11825	OMIM:188550	Thyroid cancer, nonmedullary, 1	.	51
HP:0000853	HP:0000853	Goiter	0	PAX8 CL E G H	7849	8622	OMIM:218700	Hypothyroidism, congenital, nongoitrous, 2	.	63
HP:0000853	HP:0000853	Goiter	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0000853	HP:0000853	Goiter	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	162
HP:0000853	HP:0000853	Goiter	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5	.	162
HP:0000853	HP:0000853	Goiter	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	464
HP:0000853	HP:0000853	Goiter	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	45
HP:0000853	HP:0000853	Goiter	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0000853	HP:0000853	Goiter	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	948
HP:0000853	HP:0000853	Goiter	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.	948
HP:0000853	HP:0000853	Goiter	0	RCBTB1 CL E G H	55213	18243	OMIM:617175	RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES; RDEOA		8
HP:0000853	HP:0000853	Goiter	0	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB		572
HP:0000853	HP:0000853	Goiter	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	125
HP:0000853	HP:0000853	Goiter	0	SASH1 CL E G H	23328	19182	OMIM:618373	Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma		1
HP:0000853	HP:0000853	Goiter	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	237
HP:0000853	HP:0000853	Goiter	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	147
HP:0000853	HP:0000853	Goiter	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	129
HP:0000853	HP:0000853	Goiter	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	60
HP:0000853	HP:0000853	Goiter	0	SEC23B CL E G H	10483	10702	OMIM:616858	Cowden syndrome 7	.	60
HP:0000853	HP:0000853	Goiter	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0000853	HP:0000853	Goiter	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	68
HP:0000853	HP:0000853	Goiter	0	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome	HP:0040282 - Frequent	274
HP:0000853	HP:0000853	Goiter	0	SLC26A4 CL E G H	5172	8818	OMIM:274600	Pendred syndrome	.	274
HP:0000853	HP:0000853	Goiter	0	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	59
HP:0000853	HP:0000853	Goiter	0	SLC5A5 CL E G H	6528	11040	OMIM:274400	Thyroid hormonogenesis, genetic defect in, 1	.	59
HP:0000853	HP:0000853	Goiter	0	SUGCT CL E G H	79783	16001	OMIM:231690	Glutaric aciduria III	HP:0040283 - Occasional	8
HP:0000853	HP:0000853	Goiter	0	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	155
HP:0000853	HP:0000853	Goiter	0	TG CL E G H	7038	11764	OMIM:274700	Thyroid hormonogenesis, genetic defect in, 3	.	155
HP:0000853	HP:0000853	Goiter	0	THRB CL E G H	7068	11799	OMIM:188570	Thyroid hormone resistance, generalized, autosomal dominant	.	161
HP:0000853	HP:0000853	Goiter	0	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive	.	161
HP:0000853	HP:0000853	Goiter	0	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent	92
HP:0000853	HP:0000853	Goiter	0	TPO CL E G H	7173	12015	OMIM:274500	Thyroid hormonogenesis, genetic defect in, 2A	.	92
HP:0000853	HP:0000853	Goiter	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040284 - Very rare	9
HP:0000853	HP:0000853	Goiter	0	TSHR CL E G H	7253	12373	ORPHA:99819	Familial gestational hyperthyroidism	HP:0040281 - Very frequent	97
HP:0000853	HP:0000853	Goiter	0	TSHR CL E G H	7253	12373	ORPHA:424	Familial hyperthyroidism due to mutations in TSH receptor	HP:0040281 - Very frequent	97
HP:0000853	HP:0000853	Goiter	0	TSHR CL E G H	7253	12373	OMIM:609152	Hyperthyroidism, nonautoimmune	.	97
HP:0000853	HP:0000853	Goiter	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare	113
HP:0000853	HP:0000853	Goiter	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040281 - Very frequent	1
HP:0000853	HP:0008251	Congenital goiter	1	CL E G H
HP:0000853	HP:0005994	Nodular goiter	1	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome		404
HP:0000853	HP:0005994	Nodular goiter	1	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter		670
HP:0000853	HP:0009798	Euthyroid goiter	1	DICER1 CL E G H	23405	17098	OMIM:138800	Goiter, multinodular 1		670
HP:0000853	HP:0005994	Nodular goiter	1	DICER1 CL E G H	23405	17098	OMIM:180295	RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2		670
HP:0000853	HP:0009798	Euthyroid goiter	1	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.	135
HP:0000853	HP:0005994	Nodular goiter	1	FOXE1 CL E G H	2304	3806	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040281 - Very frequent	9
HP:0000853	HP:0005994	Nodular goiter	1	HABP2 CL E G H	3026	4798	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040281 - Very frequent	58
HP:0000853	HP:0005994	Nodular goiter	1	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter
HP:0000853	HP:0005994	Nodular goiter	1	MINPP1 CL E G H	9562	7102	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040281 - Very frequent	3
HP:0000853	HP:0005994	Nodular goiter	1	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional	2
HP:0000853	HP:0005994	Nodular goiter	1	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional	64
HP:0000853	HP:0009798	Euthyroid goiter	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0000853	HP:0009798	Euthyroid goiter	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0000853	HP:0005994	Nodular goiter	1	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB	.	572
HP:0000853	HP:0005994	Nodular goiter	1	SASH1 CL E G H	23328	19182	OMIM:618373	Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma		1
HP:0000853	HP:0009798	Euthyroid goiter	1	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.	50
HP:0000853	HP:0011773	Uninodular goiter	2	CL E G H
HP:0000853	HP:0005987	Multinodular goiter	2	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.	404
HP:0000853	HP:0005987	Multinodular goiter	2	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter	HP:0040280 - Obligate	670
HP:0000853	HP:0000866	Euthyroid multinodular goiter	2	DICER1 CL E G H	23405	17098	OMIM:138800	Goiter, multinodular 1	.	670
HP:0000853	HP:0005987	Multinodular goiter	2	DICER1 CL E G H	23405	17098	OMIM:180295	RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2		670
HP:0000853	HP:0005987	Multinodular goiter	2	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter	HP:0040280 - Obligate
HP:0000853	HP:0000866	Euthyroid multinodular goiter	2	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0000853	HP:0000866	Euthyroid multinodular goiter	2	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0000853	HP:0005987	Multinodular goiter	2	SASH1 CL E G H	23328	19182	OMIM:618373	Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma	.	1