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:0010286	HP:0010286	Abnormal salivary gland morphology	0	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease		86
HP:0010286	HP:0010286	Abnormal salivary gland morphology	0	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis	HP:0040283 - Occasional	8
HP:0010286	HP:0010286	Abnormal salivary gland morphology	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0010286	HP:0010286	Abnormal salivary gland morphology	0	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome		9
HP:0010286	HP:0010286	Abnormal salivary gland morphology	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0010286	HP:0010286	Abnormal salivary gland morphology	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent	17
HP:0010286	HP:0010286	Abnormal salivary gland morphology	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent	175
HP:0010286	HP:0010286	Abnormal salivary gland morphology	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0010286	HP:0010286	Abnormal salivary gland morphology	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent	145
HP:0010286	HP:0010286	Abnormal salivary gland morphology	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0010286	HP:0010286	Abnormal salivary gland morphology	0	GRHL3 CL E G H	57822	25839	ORPHA:888	Van der Woude syndrome	HP:0040283 - Occasional	12
HP:0010286	HP:0010286	Abnormal salivary gland morphology	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0010286	HP:0010286	Abnormal salivary gland morphology	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1	.	2
HP:0010286	HP:0010286	Abnormal salivary gland morphology	0	IRF6 CL E G H	3664	6121	ORPHA:888	Van der Woude syndrome	HP:0040283 - Occasional	99
HP:0010286	HP:0010286	Abnormal salivary gland morphology	0	MLH1 CL E G H	4292	7127	ORPHA:587	Muir-Torre syndrome		1819
HP:0010286	HP:0010286	Abnormal salivary gland morphology	0	MSH2 CL E G H	4436	7325	ORPHA:587	Muir-Torre syndrome		2162
HP:0010286	HP:0010286	Abnormal salivary gland morphology	0	MSH6 CL E G H	2956	7329	ORPHA:587	Muir-Torre syndrome		2232
HP:0010286	HP:0010286	Abnormal salivary gland morphology	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040283 - Occasional	187
HP:0010286	HP:0010286	Abnormal salivary gland morphology	0	OGDH CL E G H	4967	8124	ORPHA:31	Oxoglutaric aciduria	HP:0040282 - Frequent
HP:0010286	HP:0010286	Abnormal salivary gland morphology	0	PLAG1 CL E G H	5324	9045	OMIM:181030	Salivary gland adenoma, pleomorphic		3
HP:0010286	HP:0010286	Abnormal salivary gland morphology	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0010286	HP:0010286	Abnormal salivary gland morphology	0	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome		140
HP:0010286	HP:0010286	Abnormal salivary gland morphology	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0010286	HP:0010288	Abnormality of the sublingual glands	1	CL E G H
HP:0010286	HP:0010287	Abnormality of the submandibular glands	1	CL E G H
HP:0010286	HP:0031281	Sialadenitis	1	CL E G H
HP:0010286	HP:0030706	Ranula	1	CL E G H
HP:0010286	HP:0000197	Abnormal parotid gland morphology	1	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease		86
HP:0010286	HP:0000197	Abnormal parotid gland morphology	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0010286	HP:0000197	Abnormal parotid gland morphology	1	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome		9
HP:0010286	HP:0000197	Abnormal parotid gland morphology	1	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0010286	HP:0000197	Abnormal parotid gland morphology	1	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0010286	HP:0000197	Abnormal parotid gland morphology	1	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0010286	HP:0000197	Abnormal parotid gland morphology	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0010286	HP:0100684	Salivary gland neoplasm	1	MLH1 CL E G H	4292	7127	ORPHA:587	Muir-Torre syndrome	HP:0040283 - Occasional	1819
HP:0010286	HP:0100684	Salivary gland neoplasm	1	MSH2 CL E G H	4436	7325	ORPHA:587	Muir-Torre syndrome	HP:0040283 - Occasional	2162
HP:0010286	HP:0100684	Salivary gland neoplasm	1	MSH6 CL E G H	2956	7329	ORPHA:587	Muir-Torre syndrome	HP:0040283 - Occasional	2232
HP:0010286	HP:0100684	Salivary gland neoplasm	1	PLAG1 CL E G H	5324	9045	OMIM:181030	Salivary gland adenoma, pleomorphic	.	3
HP:0010286	HP:0000197	Abnormal parotid gland morphology	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0010286	HP:0000197	Abnormal parotid gland morphology	1	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome	.	140
HP:0010286	HP:0000197	Abnormal parotid gland morphology	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0010286	HP:0031523	Salivary gland oncocytoma	2	CL E G H
HP:0010286	HP:0011801	Enlargement of parotid gland	2	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease	.	86
HP:0010286	HP:0011801	Enlargement of parotid gland	2	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	1
HP:0010286	HP:0011850	Parotitis	2	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	1
HP:0010286	HP:0011850	Parotitis	2	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome	HP:0040284 - Very rare	9
HP:0010286	HP:0009740	Aplasia of the parotid gland	2	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0010286	HP:0000198	Absence of Stensen duct	2	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0010286	HP:0009740	Aplasia of the parotid gland	2	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0010286	HP:0000198	Absence of Stensen duct	2	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0010286	HP:0009740	Aplasia of the parotid gland	2	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0010286	HP:0000198	Absence of Stensen duct	2	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0010286	HP:0011801	Enlargement of parotid gland	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	2
HP:0010286	HP:0011850	Parotitis	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	2
HP:0010286	HP:0011850	Parotitis	2	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0010286	HP:0000198	Absence of Stensen duct	2	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140