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:0100646	HP:0100646	Thyroiditis	0	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional	75
HP:0100646	HP:0100646	Thyroiditis	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0100646	HP:0100646	Thyroiditis	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.	54
HP:0100646	HP:0100646	Thyroiditis	0	C1S CL E G H	716	1247	OMIM:613783	Complement component c1s deficiency		7
HP:0100646	HP:0100646	Thyroiditis	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	87
HP:0100646	HP:0100646	Thyroiditis	0	CDKN1B CL E G H	1027	1785	OMIM:610755	Multiple endocrine neoplasia, type IV		102
HP:0100646	HP:0100646	Thyroiditis	0	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional	515
HP:0100646	HP:0100646	Thyroiditis	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome		27
HP:0100646	HP:0100646	Thyroiditis	0	CTLA4 CL E G H	1493	2505	OMIM:140300	Hashimoto thyroiditis		10
HP:0100646	HP:0100646	Thyroiditis	0	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional	94
HP:0100646	HP:0100646	Thyroiditis	0	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency		94
HP:0100646	HP:0100646	Thyroiditis	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	59
HP:0100646	HP:0100646	Thyroiditis	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	37
HP:0100646	HP:0100646	Thyroiditis	0	FOXD3 CL E G H	27022	3804	OMIM:607836	Autoimmune disease, susceptibility to, 1		1
HP:0100646	HP:0100646	Thyroiditis	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040282 - Frequent	32
HP:0100646	HP:0100646	Thyroiditis	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	2
HP:0100646	HP:0100646	Thyroiditis	0	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0100646	HP:0100646	Thyroiditis	0	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0100646	HP:0100646	Thyroiditis	0	IL18BP CL E G H	10068	5987	OMIM:618549	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0100646	HP:0100646	Thyroiditis	0	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0100646	HP:0100646	Thyroiditis	0	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional	48
HP:0100646	HP:0100646	Thyroiditis	0	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional	94
HP:0100646	HP:0100646	Thyroiditis	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0100646	HP:0100646	Thyroiditis	0	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency	HP:0040282 - Frequent	3
HP:0100646	HP:0100646	Thyroiditis	0	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional	88
HP:0100646	HP:0100646	Thyroiditis	0	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0100646	HP:0100646	Thyroiditis	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	1
HP:0100646	HP:0100646	Thyroiditis	0	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK		37
HP:0100646	HP:0100646	Thyroiditis	0	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum		11
HP:0100646	HP:0100646	Thyroiditis	0	PIK3CA CL E G H	5290	8975	OMIM:615108	Cowden syndrome 5	.	162
HP:0100646	HP:0100646	Thyroiditis	0	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3		21
HP:0100646	HP:0100646	Thyroiditis	0	POLG CL E G H	5428	9179	ORPHA:94125	Recessive mitochondrial ataxia syndrome		464
HP:0100646	HP:0100646	Thyroiditis	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional	10
HP:0100646	HP:0100646	Thyroiditis	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome		948
HP:0100646	HP:0100646	Thyroiditis	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.	948
HP:0100646	HP:0100646	Thyroiditis	0	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional	127
HP:0100646	HP:0100646	Thyroiditis	0	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional	50
HP:0100646	HP:0100646	Thyroiditis	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0100646	HP:0100646	Thyroiditis	0	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome	HP:0040283 - Occasional	37
HP:0100646	HP:0100646	Thyroiditis	0	SEC23B CL E G H	10483	10702	OMIM:616858	Cowden syndrome 7		60
HP:0100646	HP:0100646	Thyroiditis	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional
HP:0100646	HP:0100646	Thyroiditis	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome		145
HP:0100646	HP:0100646	Thyroiditis	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040282 - Frequent	110
HP:0100646	HP:0100646	Thyroiditis	0	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD		6
HP:0100646	HP:0100646	Thyroiditis	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent	89
HP:0100646	HP:0100646	Thyroiditis	0	STAT5B CL E G H	6777	11367	OMIM:618985	GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT; GHISID2		12
HP:0100646	HP:0100646	Thyroiditis	0	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0100646	HP:0100646	Thyroiditis	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	241
HP:0100646	HP:0100646	Thyroiditis	0	TG CL E G H	7038	11764	OMIM:608175	Autoimmune thyroid disease, susceptibility to, 3	.	155
HP:0100646	HP:0100646	Thyroiditis	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent
HP:0100646	HP:0100646	Thyroiditis	0	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum		26
HP:0100646	HP:0100646	Thyroiditis	0	ZFAT CL E G H	57623	19899	OMIM:608175	Autoimmune thyroid disease, susceptibility to, 3	.	2
HP:0100646	HP:0000872	Hashimoto thyroiditis	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0100646	HP:0000872	Hashimoto thyroiditis	1	C1S CL E G H	716	1247	OMIM:613783	Complement component c1s deficiency	.	7
HP:0100646	HP:0000872	Hashimoto thyroiditis	1	CDKN1B CL E G H	1027	1785	OMIM:610755	Multiple endocrine neoplasia, type IV		102
HP:0100646	HP:0000872	Hashimoto thyroiditis	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	27
HP:0100646	HP:0000872	Hashimoto thyroiditis	1	CTLA4 CL E G H	1493	2505	OMIM:140300	Hashimoto thyroiditis	.	10
HP:0100646	HP:0000872	Hashimoto thyroiditis	1	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency	HP:0040284 - Very rare	94
HP:0100646	HP:0000872	Hashimoto thyroiditis	1	FOXD3 CL E G H	27022	3804	OMIM:607836	Autoimmune disease, susceptibility to, 1	.	1
HP:0100646	HP:0000872	Hashimoto thyroiditis	1	IL18BP CL E G H	10068	5987	OMIM:618549	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0100646	HP:0000872	Hashimoto thyroiditis	1	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0100646	HP:0000872	Hashimoto thyroiditis	1	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040284 - Very rare	11
HP:0100646	HP:0000872	Hashimoto thyroiditis	1	PLCG2 CL E G H	5336	9066	OMIM:614468	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3		21
HP:0100646	HP:0000872	Hashimoto thyroiditis	1	POLG CL E G H	5428	9179	ORPHA:94125	Recessive mitochondrial ataxia syndrome	HP:0040282 - Frequent	464
HP:0100646	HP:0000872	Hashimoto thyroiditis	1	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040283 - Occasional	948
HP:0100646	HP:0000872	Hashimoto thyroiditis	1	SEC23B CL E G H	10483	10702	OMIM:616858	Cowden syndrome 7	.	60
HP:0100646	HP:0000872	Hashimoto thyroiditis	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	145
HP:0100646	HP:0000872	Hashimoto thyroiditis	1	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0100646	HP:0000872	Hashimoto thyroiditis	1	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040284 - Very rare	26