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:0000169	HP:0000169	Gingival fibromatosis	0	ABCA5 CL E G H	23461	35	ORPHA:2026	Gingival fibromatosis-hypertrichosis syndrome	HP:0040281 - Very frequent	1
HP:0000169	HP:0000169	Gingival fibromatosis	0	ABCA5 CL E G H	23461	35	OMIM:135400	Hypertrichosis terminalis, generalized, with or without gingival hyperplasia	.	1
HP:0000169	HP:0000169	Gingival fibromatosis	0	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome	.	49
HP:0000169	HP:0000169	Gingival fibromatosis	0	ANTXR2 CL E G H	118429	21732	ORPHA:2028	Juvenile hyaline fibromatosis	HP:0040283 - Occasional	49
HP:0000169	HP:0000169	Gingival fibromatosis	0	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040280 - Obligate	5
HP:0000169	HP:0000169	Gingival fibromatosis	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	2
HP:0000169	HP:0000169	Gingival fibromatosis	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	102
HP:0000169	HP:0000169	Gingival fibromatosis	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	1
HP:0000169	HP:0000169	Gingival fibromatosis	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0000169	HP:0000169	Gingival fibromatosis	0	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS		72
HP:0000169	HP:0000169	Gingival fibromatosis	0	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome	HP:0040281 - Very frequent	3
HP:0000169	HP:0000169	Gingival fibromatosis	0	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome		16
HP:0000169	HP:0000169	Gingival fibromatosis	0	FAM20C CL E G H	56975	22140	ORPHA:1832	Lethal osteosclerotic bone dysplasia	HP:0040282 - Frequent	35
HP:0000169	HP:0000169	Gingival fibromatosis	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2	.	23
HP:0000169	HP:0000169	Gingival fibromatosis	0	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040280 - Obligate	13
HP:0000169	HP:0000169	Gingival fibromatosis	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.	13
HP:0000169	HP:0000169	Gingival fibromatosis	0	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040280 - Obligate	7
HP:0000169	HP:0000169	Gingival fibromatosis	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	462
HP:0000169	HP:0000169	Gingival fibromatosis	0	NOTCH3 CL E G H	4854	7883	ORPHA:2591	Infantile myofibromatosis	HP:0040282 - Frequent	144
HP:0000169	HP:0000169	Gingival fibromatosis	0	PDGFRB CL E G H	5159	8804	ORPHA:2591	Infantile myofibromatosis	HP:0040282 - Frequent	28
HP:0000169	HP:0000169	Gingival fibromatosis	0	REST CL E G H	5978	9966	OMIM:617626	Fibromatosis, gingival, 5	.	7
HP:0000169	HP:0000169	Gingival fibromatosis	0	REST CL E G H	5978	9966	ORPHA:2024	Hereditary gingival fibromatosis	HP:0040281 - Very frequent	7
HP:0000169	HP:0000169	Gingival fibromatosis	0	SOS1 CL E G H	6654	11187	OMIM:135300	Fibromatosis, gingival, 1	.	315
HP:0000169	HP:0000169	Gingival fibromatosis	0	SOS1 CL E G H	6654	11187	ORPHA:2024	Hereditary gingival fibromatosis	HP:0040281 - Very frequent	315
HP:0000169	HP:0000169	Gingival fibromatosis	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.	1090
HP:0000169	HP:0000169	Gingival fibromatosis	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2	.	2738