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:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency		31
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis		150
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia		101
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome		39
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome		86
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome		57
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis		51
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	FGA CL E G H	2243	3661	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		47
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	FGB CL E G H	2244	3662	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		62
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	FGG CL E G H	2266	3694	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		34
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia		4
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia		4
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	ITGB2 CL E G H	3689	6155	OMIM:116920	Leukocyte adhesion deficiency, type I		114
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome		239
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome		32
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia		12
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia		3
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		58
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia		134
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia		2
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis		109
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis		228
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis		156
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia		110
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia		12
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		85
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		70
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia		22
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		116
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2		81
HP:0011898	HP:0011898	Abnormality of circulating fibrinogen	0	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia		1
HP:0011898	HP:0034422	Cryofibrinogenemia	1	CL E G H
HP:0011898	HP:0011901	Dysfibrinogenemia	1	CL E G H
HP:0011898	HP:0011900	Hypofibrinogenemia	1	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040282 - Frequent	31
HP:0011898	HP:0011900	Hypofibrinogenemia	1	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	150
HP:0011898	HP:0011900	Hypofibrinogenemia	1	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	101
HP:0011898	HP:0011900	Hypofibrinogenemia	1	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent	39
HP:0011898	HP:0011900	Hypofibrinogenemia	1	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent	86
HP:0011898	HP:0011900	Hypofibrinogenemia	1	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent	57
HP:0011898	HP:0011900	Hypofibrinogenemia	1	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	51
HP:0011898	HP:0011900	Hypofibrinogenemia	1	FGA CL E G H	2243	3661	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included	.	47
HP:0011898	HP:0034287	Afibrinogenemia	1	FGA CL E G H	2243	3661	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		47
HP:0011898	HP:0034287	Afibrinogenemia	1	FGB CL E G H	2244	3662	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		62
HP:0011898	HP:0011900	Hypofibrinogenemia	1	FGB CL E G H	2244	3662	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included	.	62
HP:0011898	HP:0034287	Afibrinogenemia	1	FGG CL E G H	2266	3694	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		34
HP:0011898	HP:0011900	Hypofibrinogenemia	1	FGG CL E G H	2266	3694	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included	.	34
HP:0011898	HP:0011900	Hypofibrinogenemia	1	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	4
HP:0011898	HP:0011900	Hypofibrinogenemia	1	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma	HP:0040283 - Occasional
HP:0011898	HP:0011900	Hypofibrinogenemia	1	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE	.
HP:0011898	HP:0011900	Hypofibrinogenemia	1	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent
HP:0011898	HP:0011900	Hypofibrinogenemia	1	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	4
HP:0011898	HP:0011899	Hyperfibrinogenemia	1	ITGB2 CL E G H	3689	6155	OMIM:116920	Leukocyte adhesion deficiency, type I		114
HP:0011898	HP:0011900	Hypofibrinogenemia	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional	239
HP:0011898	HP:0011900	Hypofibrinogenemia	1	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0011898	HP:0011900	Hypofibrinogenemia	1	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional
HP:0011898	HP:0011900	Hypofibrinogenemia	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional	32
HP:0011898	HP:0011900	Hypofibrinogenemia	1	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0011898	HP:0011900	Hypofibrinogenemia	1	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	12
HP:0011898	HP:0011900	Hypofibrinogenemia	1	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional
HP:0011898	HP:0011900	Hypofibrinogenemia	1	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	3
HP:0011898	HP:0011900	Hypofibrinogenemia	1	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	58
HP:0011898	HP:0011900	Hypofibrinogenemia	1	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0011898	HP:0011900	Hypofibrinogenemia	1	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	134
HP:0011898	HP:0011900	Hypofibrinogenemia	1	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	2
HP:0011898	HP:0011900	Hypofibrinogenemia	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0011898	HP:0011900	Hypofibrinogenemia	1	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	109
HP:0011898	HP:0011900	Hypofibrinogenemia	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040283 - Occasional	104
HP:0011898	HP:0011900	Hypofibrinogenemia	1	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	228
HP:0011898	HP:0011900	Hypofibrinogenemia	1	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	156
HP:0011898	HP:0011900	Hypofibrinogenemia	1	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	110
HP:0011898	HP:0011900	Hypofibrinogenemia	1	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	12
HP:0011898	HP:0011900	Hypofibrinogenemia	1	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	85
HP:0011898	HP:0011900	Hypofibrinogenemia	1	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0011898	HP:0011900	Hypofibrinogenemia	1	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	70
HP:0011898	HP:0011900	Hypofibrinogenemia	1	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	22
HP:0011898	HP:0011900	Hypofibrinogenemia	1	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	116
HP:0011898	HP:0011900	Hypofibrinogenemia	1	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0011898	HP:0011900	Hypofibrinogenemia	1	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2		81
HP:0011898	HP:0011900	Hypofibrinogenemia	1	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	1