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:0001977	HP:0001977	Abnormal thrombosis	0	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia		178
HP:0001977	HP:0001977	Abnormal thrombosis	0	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome		22
HP:0001977	HP:0001977	Abnormal thrombosis	0	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome		1
HP:0001977	HP:0001977	Abnormal thrombosis	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome		54
HP:0001977	HP:0001977	Abnormal thrombosis	0	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic		54
HP:0001977	HP:0001977	Abnormal thrombosis	0	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG		66
HP:0001977	HP:0001977	Abnormal thrombosis	0	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia		101
HP:0001977	HP:0001977	Abnormal thrombosis	0	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1	HP:0040282 - Frequent	525
HP:0001977	HP:0001977	Abnormal thrombosis	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease		1
HP:0001977	HP:0001977	Abnormal thrombosis	0	CALR CL E G H	811	1455	ORPHA:3318	Essential thrombocythemia		1
HP:0001977	HP:0001977	Abnormal thrombosis	0	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	1
HP:0001977	HP:0001977	Abnormal thrombosis	0	CASR CL E G H	846	1514	ORPHA:676	Hereditary chronic pancreatitis		272
HP:0001977	HP:0001977	Abnormal thrombosis	0	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria		242
HP:0001977	HP:0001977	Abnormal thrombosis	0	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency		242
HP:0001977	HP:0001977	Abnormal thrombosis	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0001977	HP:0001977	Abnormal thrombosis	0	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome		39
HP:0001977	HP:0001977	Abnormal thrombosis	0	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy		9
HP:0001977	HP:0001977	Abnormal thrombosis	0	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome		86
HP:0001977	HP:0001977	Abnormal thrombosis	0	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome		57
HP:0001977	HP:0001977	Abnormal thrombosis	0	CFTR CL E G H	1080	1884	ORPHA:676	Hereditary chronic pancreatitis		1371
HP:0001977	HP:0001977	Abnormal thrombosis	0	CFTR CL E G H	1080	1884	OMIM:167800	Pancreatitis, hereditary	.	1371
HP:0001977	HP:0001977	Abnormal thrombosis	0	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type		5
HP:0001977	HP:0001977	Abnormal thrombosis	0	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0001977	HP:0001977	Abnormal thrombosis	0	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0001977	HP:0001977	Abnormal thrombosis	0	CPA1 CL E G H	1357	2296	ORPHA:676	Hereditary chronic pancreatitis		5
HP:0001977	HP:0001977	Abnormal thrombosis	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis		10
HP:0001977	HP:0001977	Abnormal thrombosis	0	CTNNB1 CL E G H	1499	2514	ORPHA:33402	Pediatric hepatocellular carcinoma		88
HP:0001977	HP:0001977	Abnormal thrombosis	0	CTRC CL E G H	11330	2523	ORPHA:676	Hereditary chronic pancreatitis		39
HP:0001977	HP:0001977	Abnormal thrombosis	0	CTRC CL E G H	11330	2523	OMIM:167800	Pancreatitis, hereditary	.	39
HP:0001977	HP:0001977	Abnormal thrombosis	0	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy
HP:0001977	HP:0001977	Abnormal thrombosis	0	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia		186
HP:0001977	HP:0001977	Abnormal thrombosis	0	EPAS1 CL E G H	2034	3374	OMIM:611783	ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4		112
HP:0001977	HP:0001977	Abnormal thrombosis	0	EPOR CL E G H	2057	3416	ORPHA:90042	Primary familial polycythemia		43
HP:0001977	HP:0001977	Abnormal thrombosis	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease		1
HP:0001977	HP:0001977	Abnormal thrombosis	0	F12 CL E G H	2161	3530	ORPHA:330	Congenital factor XII deficiency	HP:0040283 - Occasional	28
HP:0001977	HP:0001977	Abnormal thrombosis	0	F13A1 CL E G H	2162	3531	OMIM:188050	Thrombophiliavenous thromboembolism, included		60
HP:0001977	HP:0001977	Abnormal thrombosis	0	F2 CL E G H	2147	3535	OMIM:188050	Thrombophiliavenous thromboembolism, included		44
HP:0001977	HP:0001977	Abnormal thrombosis	0	F5 CL E G H	2153	3542	OMIM:188055	Thrombophilia due to deficiency of activated protein C cofactor		159
HP:0001977	HP:0001977	Abnormal thrombosis	0	F8 CL E G H	2157	3546	OMIM:301071	THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT; THPH13		303
HP:0001977	HP:0001977	Abnormal thrombosis	0	F9 CL E G H	2158	3551	OMIM:300807	THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT; THPH8		143
HP:0001977	HP:0001977	Abnormal thrombosis	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease		59
HP:0001977	HP:0001977	Abnormal thrombosis	0	FCGR2C CL E G H	9103	15626	ORPHA:3002	Immune thrombocytopenia
HP:0001977	HP:0001977	Abnormal thrombosis	0	FGA CL E G H	2243	3661	ORPHA:98881	Familial dysfibrinogenemia		47
HP:0001977	HP:0001977	Abnormal thrombosis	0	FGB CL E G H	2244	3662	ORPHA:98881	Familial dysfibrinogenemia		62
HP:0001977	HP:0001977	Abnormal thrombosis	0	FGG CL E G H	2266	3694	ORPHA:98881	Familial dysfibrinogenemia		34
HP:0001977	HP:0001977	Abnormal thrombosis	0	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia		4
HP:0001977	HP:0001977	Abnormal thrombosis	0	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy		197
HP:0001977	HP:0001977	Abnormal thrombosis	0	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia		8
HP:0001977	HP:0001977	Abnormal thrombosis	0	GNAQ CL E G H	2776	4390	ORPHA:624	Familial multiple nevi flammei		7
HP:0001977	HP:0001977	Abnormal thrombosis	0	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome		7
HP:0001977	HP:0001977	Abnormal thrombosis	0	HABP2 CL E G H	3026	4798	OMIM:188050	Thrombophiliavenous thromboembolism, included		58
HP:0001977	HP:0001977	Abnormal thrombosis	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major		580
HP:0001977	HP:0001977	Abnormal thrombosis	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia		580
HP:0001977	HP:0001977	Abnormal thrombosis	0	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome
HP:0001977	HP:0001977	Abnormal thrombosis	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease		4
HP:0001977	HP:0001977	Abnormal thrombosis	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis		4
HP:0001977	HP:0001977	Abnormal thrombosis	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0001977	HP:0001977	Abnormal thrombosis	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis		1
HP:0001977	HP:0001977	Abnormal thrombosis	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis		2
HP:0001977	HP:0001977	Abnormal thrombosis	0	HRG CL E G H	3273	5181	OMIM:613116	Thrombophilia due to histidine-rich glycoprotein deficiency	.	4
HP:0001977	HP:0001977	Abnormal thrombosis	0	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome		15
HP:0001977	HP:0001977	Abnormal thrombosis	0	IDH1 CL E G H	3417	5382	ORPHA:296	Ollier disease		15
HP:0001977	HP:0001977	Abnormal thrombosis	0	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome		29
HP:0001977	HP:0001977	Abnormal thrombosis	0	IDH2 CL E G H	3418	5383	ORPHA:296	Ollier disease		29
HP:0001977	HP:0001977	Abnormal thrombosis	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease		60
HP:0001977	HP:0001977	Abnormal thrombosis	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease		2
HP:0001977	HP:0001977	Abnormal thrombosis	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0001977	HP:0001977	Abnormal thrombosis	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0001977	HP:0001977	Abnormal thrombosis	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease		1
HP:0001977	HP:0001977	Abnormal thrombosis	0	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0001977	HP:0001977	Abnormal thrombosis	0	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia		4
HP:0001977	HP:0001977	Abnormal thrombosis	0	JAK2 CL E G H	3717	6192	OMIM:133100	Erythrocytosis, familial, 1		57
HP:0001977	HP:0001977	Abnormal thrombosis	0	JAK2 CL E G H	3717	6192	ORPHA:3318	Essential thrombocythemia		57
HP:0001977	HP:0001977	Abnormal thrombosis	0	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis		57
HP:0001977	HP:0001977	Abnormal thrombosis	0	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera		57
HP:0001977	HP:0001977	Abnormal thrombosis	0	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera	.	57
HP:0001977	HP:0001977	Abnormal thrombosis	0	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	57
HP:0001977	HP:0001977	Abnormal thrombosis	0	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis		3
HP:0001977	HP:0001977	Abnormal thrombosis	0	KCNQ1 CL E G H	3784	6294	OMIM:607554	Atrial fibrillation, familial, 3		730
HP:0001977	HP:0001977	Abnormal thrombosis	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome		46
HP:0001977	HP:0001977	Abnormal thrombosis	0	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy
HP:0001977	HP:0001977	Abnormal thrombosis	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0001977	HP:0001977	Abnormal thrombosis	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0001977	HP:0001977	Abnormal thrombosis	0	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0001977	HP:0001977	Abnormal thrombosis	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease		281
HP:0001977	HP:0001977	Abnormal thrombosis	0	MET CL E G H	4233	7029	ORPHA:33402	Pediatric hepatocellular carcinoma		375
HP:0001977	HP:0001977	Abnormal thrombosis	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0001977	HP:0001977	Abnormal thrombosis	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type		101
HP:0001977	HP:0001977	Abnormal thrombosis	0	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib	.	51
HP:0001977	HP:0001977	Abnormal thrombosis	0	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG	HP:0040282 - Frequent	51
HP:0001977	HP:0001977	Abnormal thrombosis	0	MPL CL E G H	4352	7217	ORPHA:3318	Essential thrombocythemia		97
HP:0001977	HP:0001977	Abnormal thrombosis	0	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis		97
HP:0001977	HP:0001977	Abnormal thrombosis	0	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera		97
HP:0001977	HP:0001977	Abnormal thrombosis	0	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	97
HP:0001977	HP:0001977	Abnormal thrombosis	0	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040283 - Occasional	183
HP:0001977	HP:0001977	Abnormal thrombosis	0	MTHFR CL E G H	4524	7436	OMIM:188050	Thrombophiliavenous thromboembolism, included		183
HP:0001977	HP:0001977	Abnormal thrombosis	0	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE		88
HP:0001977	HP:0001977	Abnormal thrombosis	0	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0001977	HP:0001977	Abnormal thrombosis	0	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve		1269
HP:0001977	HP:0001977	Abnormal thrombosis	0	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	.	297
HP:0001977	HP:0001977	Abnormal thrombosis	0	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy		217
HP:0001977	HP:0001977	Abnormal thrombosis	0	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0001977	HP:0001977	Abnormal thrombosis	0	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52		5
HP:0001977	HP:0001977	Abnormal thrombosis	0	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0001977	HP:0001977	Abnormal thrombosis	0	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5		452
HP:0001977	HP:0001977	Abnormal thrombosis	0	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia		12
HP:0001977	HP:0001977	Abnormal thrombosis	0	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill		13
HP:0001977	HP:0001977	Abnormal thrombosis	0	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0001977	HP:0001977	Abnormal thrombosis	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis		3
HP:0001977	HP:0001977	Abnormal thrombosis	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0001977	HP:0001977	Abnormal thrombosis	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance		113
HP:0001977	HP:0001977	Abnormal thrombosis	0	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic		337
HP:0001977	HP:0001977	Abnormal thrombosis	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0001977	HP:0001977	Abnormal thrombosis	0	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis		36
HP:0001977	HP:0001977	Abnormal thrombosis	0	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III		36
HP:0001977	HP:0001977	Abnormal thrombosis	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria		46
HP:0001977	HP:0001977	Abnormal thrombosis	0	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency		6
HP:0001977	HP:0001977	Abnormal thrombosis	0	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia		3
HP:0001977	HP:0001977	Abnormal thrombosis	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0001977	HP:0001977	Abnormal thrombosis	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0001977	HP:0001977	Abnormal thrombosis	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance		134
HP:0001977	HP:0001977	Abnormal thrombosis	0	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia		134
HP:0001977	HP:0001977	Abnormal thrombosis	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0001977	HP:0001977	Abnormal thrombosis	0	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma		134
HP:0001977	HP:0001977	Abnormal thrombosis	0	PROC CL E G H	5624	9451	ORPHA:745	Severe hereditary thrombophilia due to congenital protein C deficiency		65
HP:0001977	HP:0001977	Abnormal thrombosis	0	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive		65
HP:0001977	HP:0001977	Abnormal thrombosis	0	PROC CL E G H	5624	9451	OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant		65
HP:0001977	HP:0001977	Abnormal thrombosis	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0001977	HP:0001977	Abnormal thrombosis	0	PROS1 CL E G H	5627	9456	ORPHA:743	Severe hereditary thrombophilia due to congenital protein S deficiency		75
HP:0001977	HP:0001977	Abnormal thrombosis	0	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive		75
HP:0001977	HP:0001977	Abnormal thrombosis	0	PROS1 CL E G H	5627	9456	OMIM:612336	Thrombophilia, hereditary, due to protein S deficiency, autosomal		75
HP:0001977	HP:0001977	Abnormal thrombosis	0	PRSS1 CL E G H	5644	9475	ORPHA:676	Hereditary chronic pancreatitis		51
HP:0001977	HP:0001977	Abnormal thrombosis	0	PRSS1 CL E G H	5644	9475	OMIM:167800	Pancreatitis, hereditary	.	51
HP:0001977	HP:0001977	Abnormal thrombosis	0	PRSS2 CL E G H	5645	9483	ORPHA:676	Hereditary chronic pancreatitis		1
HP:0001977	HP:0001977	Abnormal thrombosis	0	PRSS2 CL E G H	5645	9483	OMIM:167800	Pancreatitis, hereditary	.	1
HP:0001977	HP:0001977	Abnormal thrombosis	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0001977	HP:0001977	Abnormal thrombosis	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome		948
HP:0001977	HP:0001977	Abnormal thrombosis	0	PTH1R CL E G H	5745	9608	ORPHA:296	Ollier disease		58
HP:0001977	HP:0001977	Abnormal thrombosis	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis		3
HP:0001977	HP:0001977	Abnormal thrombosis	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis		3
HP:0001977	HP:0001977	Abnormal thrombosis	0	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia		2
HP:0001977	HP:0001977	Abnormal thrombosis	0	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome		88
HP:0001977	HP:0001977	Abnormal thrombosis	0	RFT1 CL E G H	91869	30220	ORPHA:244310	RFT1-CDG	HP:0040282 - Frequent	92
HP:0001977	HP:0001977	Abnormal thrombosis	0	RHAG CL E G H	6005	10006	ORPHA:3203	Overhydrated hereditary stomatocytosis	HP:0040283 - Occasional	13
HP:0001977	HP:0001977	Abnormal thrombosis	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia		1200
HP:0001977	HP:0001977	Abnormal thrombosis	0	SAA1 CL E G H	6288	10513	ORPHA:85445	AA amyloidosis		2
HP:0001977	HP:0001977	Abnormal thrombosis	0	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill		1134
HP:0001977	HP:0001977	Abnormal thrombosis	0	SERPINC1 CL E G H	462	775	OMIM:613118	Antithrombin III deficiency		88
HP:0001977	HP:0001977	Abnormal thrombosis	0	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency		88
HP:0001977	HP:0001977	Abnormal thrombosis	0	SERPIND1 CL E G H	3053	4838	OMIM:612356	Heparin cofactor II deficiency		5
HP:0001977	HP:0001977	Abnormal thrombosis	0	SH2B3 CL E G H	10019	29605	OMIM:133100	Erythrocytosis, familial, 1		4
HP:0001977	HP:0001977	Abnormal thrombosis	0	SH2B3 CL E G H	10019	29605	ORPHA:3318	Essential thrombocythemia		4
HP:0001977	HP:0001977	Abnormal thrombosis	0	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	.	178
HP:0001977	HP:0001977	Abnormal thrombosis	0	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis		109
HP:0001977	HP:0001977	Abnormal thrombosis	0	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia		504
HP:0001977	HP:0001977	Abnormal thrombosis	0	SPINK1 CL E G H	6690	11244	ORPHA:676	Hereditary chronic pancreatitis		34
HP:0001977	HP:0001977	Abnormal thrombosis	0	SPINK1 CL E G H	6690	11244	OMIM:167800	Pancreatitis, hereditary	.	34
HP:0001977	HP:0001977	Abnormal thrombosis	0	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia		110
HP:0001977	HP:0001977	Abnormal thrombosis	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease		2
HP:0001977	HP:0001977	Abnormal thrombosis	0	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia		12
HP:0001977	HP:0001977	Abnormal thrombosis	0	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia		22
HP:0001977	HP:0001977	Abnormal thrombosis	0	TET2 CL E G H	54790	25941	ORPHA:3318	Essential thrombocythemia		3
HP:0001977	HP:0001977	Abnormal thrombosis	0	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera		3
HP:0001977	HP:0001977	Abnormal thrombosis	0	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	3
HP:0001977	HP:0001977	Abnormal thrombosis	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0001977	HP:0001977	Abnormal thrombosis	0	THBD CL E G H	7056	11784	OMIM:614486	Thrombophilia due to thrombomodulin defect		60
HP:0001977	HP:0001977	Abnormal thrombosis	0	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis		23
HP:0001977	HP:0001977	Abnormal thrombosis	0	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type		6
HP:0001977	HP:0001977	Abnormal thrombosis	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease		3
HP:0001977	HP:0001977	Abnormal thrombosis	0	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy		180
HP:0001977	HP:0001977	Abnormal thrombosis	0	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy		248
HP:0001977	HP:0001977	Abnormal thrombosis	0	TP53 CL E G H	7157	11998	ORPHA:3318	Essential thrombocythemia		911
HP:0001977	HP:0001977	Abnormal thrombosis	0	TTR CL E G H	7276	12405	ORPHA:85451	ATTRV122I amyloidosis		107
HP:0001977	HP:0001977	Abnormal thrombosis	0	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS		35
HP:0001977	HP:0001977	Abnormal thrombosis	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0001977	HP:0001977	Abnormal thrombosis	0	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2		490
HP:0001977	HP:0001977	Abnormal thrombosis	0	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia		1
HP:0001977	HP:0004936	Venous thrombosis	1	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	178
HP:0001977	HP:0001907	Thromboembolism	1	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome		22
HP:0001977	HP:0004936	Venous thrombosis	1	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome	HP:0040282 - Frequent	1
HP:0001977	HP:0004936	Venous thrombosis	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome		54
HP:0001977	HP:0004420	Arterial thrombosis	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	54
HP:0001977	HP:0004936	Venous thrombosis	1	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic		54
HP:0001977	HP:0004936	Venous thrombosis	1	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG		66
HP:0001977	HP:0005521	Disseminated intravascular coagulation	1	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	101
HP:0001977	HP:0004936	Venous thrombosis	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040282 - Frequent	1
HP:0001977	HP:0004420	Arterial thrombosis	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0001977	HP:0004420	Arterial thrombosis	1	CALR CL E G H	811	1455	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	1
HP:0001977	HP:0004936	Venous thrombosis	1	CALR CL E G H	811	1455	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	1
HP:0001977	HP:0004420	Arterial thrombosis	1	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	1
HP:0001977	HP:0004936	Venous thrombosis	1	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	1
HP:0001977	HP:0004936	Venous thrombosis	1	CASR CL E G H	846	1514	ORPHA:676	Hereditary chronic pancreatitis		272
HP:0001977	HP:0004420	Arterial thrombosis	1	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria	HP:0040282 - Frequent	242
HP:0001977	HP:0004936	Venous thrombosis	1	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria	HP:0040282 - Frequent	242
HP:0001977	HP:0001907	Thromboembolism	1	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency		242
HP:0001977	HP:0004420	Arterial thrombosis	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001977	HP:0004936	Venous thrombosis	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0001977	HP:0005521	Disseminated intravascular coagulation	1	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	39
HP:0001977	HP:0004936	Venous thrombosis	1	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy		9
HP:0001977	HP:0005521	Disseminated intravascular coagulation	1	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	86
HP:0001977	HP:0005521	Disseminated intravascular coagulation	1	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	57
HP:0001977	HP:0004936	Venous thrombosis	1	CFTR CL E G H	1080	1884	ORPHA:676	Hereditary chronic pancreatitis		1371
HP:0001977	HP:0001907	Thromboembolism	1	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type	HP:0040284 - Very rare	5
HP:0001977	HP:0005521	Disseminated intravascular coagulation	1	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0001977	HP:0005521	Disseminated intravascular coagulation	1	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0001977	HP:0004936	Venous thrombosis	1	CPA1 CL E G H	1357	2296	ORPHA:676	Hereditary chronic pancreatitis		5
HP:0001977	HP:0004936	Venous thrombosis	1	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	10
HP:0001977	HP:0004936	Venous thrombosis	1	CTNNB1 CL E G H	1499	2514	ORPHA:33402	Pediatric hepatocellular carcinoma		88
HP:0001977	HP:0004936	Venous thrombosis	1	CTRC CL E G H	11330	2523	ORPHA:676	Hereditary chronic pancreatitis		39
HP:0001977	HP:0001907	Thromboembolism	1	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy	HP:0040284 - Very rare
HP:0001977	HP:0004936	Venous thrombosis	1	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	186
HP:0001977	HP:0004936	Venous thrombosis	1	EPAS1 CL E G H	2034	3374	OMIM:611783	ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4		112
HP:0001977	HP:0004936	Venous thrombosis	1	EPOR CL E G H	2057	3416	ORPHA:90042	Primary familial polycythemia	HP:0040281 - Very frequent	43
HP:0001977	HP:0001907	Thromboembolism	1	EPOR CL E G H	2057	3416	ORPHA:90042	Primary familial polycythemia	HP:0040283 - Occasional	43
HP:0001977	HP:0004936	Venous thrombosis	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040282 - Frequent	1
HP:0001977	HP:0004420	Arterial thrombosis	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0001977	HP:0001907	Thromboembolism	1	F12 CL E G H	2161	3530	ORPHA:330	Congenital factor XII deficiency	HP:0040283 - Occasional	28
HP:0001977	HP:0001907	Thromboembolism	1	F13A1 CL E G H	2162	3531	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	60
HP:0001977	HP:0004936	Venous thrombosis	1	F13A1 CL E G H	2162	3531	OMIM:188050	Thrombophiliavenous thromboembolism, included		60
HP:0001977	HP:0001907	Thromboembolism	1	F2 CL E G H	2147	3535	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	44
HP:0001977	HP:0004936	Venous thrombosis	1	F2 CL E G H	2147	3535	OMIM:188050	Thrombophiliavenous thromboembolism, included		44
HP:0001977	HP:0004936	Venous thrombosis	1	F5 CL E G H	2153	3542	OMIM:188055	Thrombophilia due to deficiency of activated protein C cofactor		159
HP:0001977	HP:0004936	Venous thrombosis	1	F8 CL E G H	2157	3546	OMIM:301071	THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT; THPH13		303
HP:0001977	HP:0004936	Venous thrombosis	1	F9 CL E G H	2158	3551	OMIM:300807	THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT; THPH8		143
HP:0001977	HP:0004420	Arterial thrombosis	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional	59
HP:0001977	HP:0004936	Venous thrombosis	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040282 - Frequent	59
HP:0001977	HP:0001907	Thromboembolism	1	FCGR2C CL E G H	9103	15626	ORPHA:3002	Immune thrombocytopenia	HP:0040281 - Very frequent
HP:0001977	HP:0004420	Arterial thrombosis	1	FCGR2C CL E G H	9103	15626	ORPHA:3002	Immune thrombocytopenia	HP:0040282 - Frequent
HP:0001977	HP:0004936	Venous thrombosis	1	FGA CL E G H	2243	3661	ORPHA:98881	Familial dysfibrinogenemia	HP:0040282 - Frequent	47
HP:0001977	HP:0004936	Venous thrombosis	1	FGB CL E G H	2244	3662	ORPHA:98881	Familial dysfibrinogenemia	HP:0040282 - Frequent	62
HP:0001977	HP:0004936	Venous thrombosis	1	FGG CL E G H	2266	3694	ORPHA:98881	Familial dysfibrinogenemia	HP:0040282 - Frequent	34
HP:0001977	HP:0005521	Disseminated intravascular coagulation	1	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0001977	HP:0001907	Thromboembolism	1	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040284 - Very rare	197
HP:0001977	HP:0004936	Venous thrombosis	1	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	8
HP:0001977	HP:0004936	Venous thrombosis	1	GNAQ CL E G H	2776	4390	ORPHA:624	Familial multiple nevi flammei	HP:0040283 - Occasional	7
HP:0001977	HP:0004936	Venous thrombosis	1	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040283 - Occasional	7
HP:0001977	HP:0001907	Thromboembolism	1	HABP2 CL E G H	3026	4798	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	58
HP:0001977	HP:0004936	Venous thrombosis	1	HABP2 CL E G H	3026	4798	OMIM:188050	Thrombophiliavenous thromboembolism, included		58
HP:0001977	HP:0004936	Venous thrombosis	1	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040283 - Occasional	580
HP:0001977	HP:0004936	Venous thrombosis	1	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040283 - Occasional	580
HP:0001977	HP:0005521	Disseminated intravascular coagulation	1	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional
HP:0001977	HP:0004420	Arterial thrombosis	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional	4
HP:0001977	HP:0004936	Venous thrombosis	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040282 - Frequent	4
HP:0001977	HP:0004420	Arterial thrombosis	1	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	4
HP:0001977	HP:0004936	Venous thrombosis	1	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0001977	HP:0004936	Venous thrombosis	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	1
HP:0001977	HP:0004420	Arterial thrombosis	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	2
HP:0001977	HP:0001907	Thromboembolism	1	HRG CL E G H	3273	5181	OMIM:613116	Thrombophilia due to histidine-rich glycoprotein deficiency		4
HP:0001977	HP:0004936	Venous thrombosis	1	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome	HP:0040281 - Very frequent	15
HP:0001977	HP:0004936	Venous thrombosis	1	IDH1 CL E G H	3417	5382	ORPHA:296	Ollier disease	HP:0040283 - Occasional	15
HP:0001977	HP:0004936	Venous thrombosis	1	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome	HP:0040281 - Very frequent	29
HP:0001977	HP:0004936	Venous thrombosis	1	IDH2 CL E G H	3418	5383	ORPHA:296	Ollier disease	HP:0040283 - Occasional	29
HP:0001977	HP:0004936	Venous thrombosis	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040282 - Frequent	60
HP:0001977	HP:0004420	Arterial thrombosis	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional	60
HP:0001977	HP:0004936	Venous thrombosis	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040282 - Frequent	2
HP:0001977	HP:0004420	Arterial thrombosis	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0001977	HP:0004936	Venous thrombosis	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0001977	HP:0004420	Arterial thrombosis	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001977	HP:0004936	Venous thrombosis	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0001977	HP:0004420	Arterial thrombosis	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001977	HP:0004936	Venous thrombosis	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040282 - Frequent	1
HP:0001977	HP:0004420	Arterial thrombosis	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0001977	HP:0005521	Disseminated intravascular coagulation	1	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0001977	HP:0005521	Disseminated intravascular coagulation	1	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	4
HP:0001977	HP:0002641	Peripheral thrombosis	1	JAK2 CL E G H	3717	6192	OMIM:133100	Erythrocytosis, familial, 1	.	57
HP:0001977	HP:0004420	Arterial thrombosis	1	JAK2 CL E G H	3717	6192	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	57
HP:0001977	HP:0004936	Venous thrombosis	1	JAK2 CL E G H	3717	6192	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	57
HP:0001977	HP:0004420	Arterial thrombosis	1	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis	HP:0040281 - Very frequent	57
HP:0001977	HP:0004936	Venous thrombosis	1	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis	HP:0040281 - Very frequent	57
HP:0001977	HP:0004420	Arterial thrombosis	1	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	57
HP:0001977	HP:0001907	Thromboembolism	1	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera	.	57
HP:0001977	HP:0004936	Venous thrombosis	1	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	57
HP:0001977	HP:0004420	Arterial thrombosis	1	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	57
HP:0001977	HP:0004936	Venous thrombosis	1	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	57
HP:0001977	HP:0001907	Thromboembolism	1	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional	3
HP:0001977	HP:0004936	Venous thrombosis	1	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis		3
HP:0001977	HP:0001907	Thromboembolism	1	KCNQ1 CL E G H	3784	6294	OMIM:607554	Atrial fibrillation, familial, 3		730
HP:0001977	HP:0004936	Venous thrombosis	1	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional	46
HP:0001977	HP:0001907	Thromboembolism	1	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040284 - Very rare
HP:0001977	HP:0004420	Arterial thrombosis	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001977	HP:0004936	Venous thrombosis	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0001977	HP:0005521	Disseminated intravascular coagulation	1	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0001977	HP:0005521	Disseminated intravascular coagulation	1	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0001977	HP:0004420	Arterial thrombosis	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional	281
HP:0001977	HP:0004936	Venous thrombosis	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040282 - Frequent	281
HP:0001977	HP:0004936	Venous thrombosis	1	MET CL E G H	4233	7029	ORPHA:33402	Pediatric hepatocellular carcinoma		375
HP:0001977	HP:0004936	Venous thrombosis	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0001977	HP:0001907	Thromboembolism	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional	101
HP:0001977	HP:0001907	Thromboembolism	1	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.	101
HP:0001977	HP:0004420	Arterial thrombosis	1	MPL CL E G H	4352	7217	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	97
HP:0001977	HP:0004936	Venous thrombosis	1	MPL CL E G H	4352	7217	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	97
HP:0001977	HP:0004420	Arterial thrombosis	1	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis	HP:0040281 - Very frequent	97
HP:0001977	HP:0004936	Venous thrombosis	1	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis	HP:0040281 - Very frequent	97
HP:0001977	HP:0004936	Venous thrombosis	1	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	97
HP:0001977	HP:0004420	Arterial thrombosis	1	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	97
HP:0001977	HP:0004936	Venous thrombosis	1	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	97
HP:0001977	HP:0004420	Arterial thrombosis	1	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	97
HP:0001977	HP:0004936	Venous thrombosis	1	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency		183
HP:0001977	HP:0001907	Thromboembolism	1	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency		183
HP:0001977	HP:0004936	Venous thrombosis	1	MTHFR CL E G H	4524	7436	OMIM:188050	Thrombophiliavenous thromboembolism, included		183
HP:0001977	HP:0001907	Thromboembolism	1	MTHFR CL E G H	4524	7436	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	183
HP:0001977	HP:0004936	Venous thrombosis	1	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE		88
HP:0001977	HP:0001907	Thromboembolism	1	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040283 - Occasional	88
HP:0001977	HP:0001907	Thromboembolism	1	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0001977	HP:0004420	Arterial thrombosis	1	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve	HP:0040283 - Occasional	1269
HP:0001977	HP:0001907	Thromboembolism	1	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040284 - Very rare	217
HP:0001977	HP:0005521	Disseminated intravascular coagulation	1	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0001977	HP:0005521	Disseminated intravascular coagulation	1	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52		5
HP:0001977	HP:0005521	Disseminated intravascular coagulation	1	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0001977	HP:0004936	Venous thrombosis	1	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5		452
HP:0001977	HP:0005521	Disseminated intravascular coagulation	1	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0001977	HP:0001907	Thromboembolism	1	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill	HP:0040283 - Occasional	13
HP:0001977	HP:0005521	Disseminated intravascular coagulation	1	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0001977	HP:0004420	Arterial thrombosis	1	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0001977	HP:0001907	Thromboembolism	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0001977	HP:0004936	Venous thrombosis	1	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance		113
HP:0001977	HP:0004936	Venous thrombosis	1	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic	.	337
HP:0001977	HP:0004936	Venous thrombosis	1	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0001977	HP:0001907	Thromboembolism	1	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional	36
HP:0001977	HP:0004936	Venous thrombosis	1	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis		36
HP:0001977	HP:0004936	Venous thrombosis	1	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III		36
HP:0001977	HP:0004936	Venous thrombosis	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040282 - Frequent	46
HP:0001977	HP:0001907	Thromboembolism	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040282 - Frequent	46
HP:0001977	HP:0004420	Arterial thrombosis	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040283 - Occasional	46
HP:0001977	HP:0004936	Venous thrombosis	1	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency	.	6
HP:0001977	HP:0005521	Disseminated intravascular coagulation	1	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	3
HP:0001977	HP:0004936	Venous thrombosis	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0001977	HP:0001907	Thromboembolism	1	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0001977	HP:0004936	Venous thrombosis	1	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance		134
HP:0001977	HP:0005521	Disseminated intravascular coagulation	1	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	134
HP:0001977	HP:0001907	Thromboembolism	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0001977	HP:0001907	Thromboembolism	1	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma	HP:0040283 - Occasional	134
HP:0001977	HP:0004936	Venous thrombosis	1	PROC CL E G H	5624	9451	ORPHA:745	Severe hereditary thrombophilia due to congenital protein C deficiency	HP:0040282 - Frequent	65
HP:0001977	HP:0004936	Venous thrombosis	1	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive		65
HP:0001977	HP:0004936	Venous thrombosis	1	PROC CL E G H	5624	9451	OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant		65
HP:0001977	HP:0004936	Venous thrombosis	1	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0001977	HP:0004936	Venous thrombosis	1	PROS1 CL E G H	5627	9456	ORPHA:743	Severe hereditary thrombophilia due to congenital protein S deficiency		75
HP:0001977	HP:0004420	Arterial thrombosis	1	PROS1 CL E G H	5627	9456	ORPHA:743	Severe hereditary thrombophilia due to congenital protein S deficiency	HP:0040283 - Occasional	75
HP:0001977	HP:0005521	Disseminated intravascular coagulation	1	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive	.	75
HP:0001977	HP:0004936	Venous thrombosis	1	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive		75
HP:0001977	HP:0004420	Arterial thrombosis	1	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive	.	75
HP:0001977	HP:0004420	Arterial thrombosis	1	PROS1 CL E G H	5627	9456	OMIM:612336	Thrombophilia, hereditary, due to protein S deficiency, autosomal	.	75
HP:0001977	HP:0004936	Venous thrombosis	1	PROS1 CL E G H	5627	9456	OMIM:612336	Thrombophilia, hereditary, due to protein S deficiency, autosomal		75
HP:0001977	HP:0004936	Venous thrombosis	1	PRSS1 CL E G H	5644	9475	ORPHA:676	Hereditary chronic pancreatitis		51
HP:0001977	HP:0004936	Venous thrombosis	1	PRSS2 CL E G H	5645	9483	ORPHA:676	Hereditary chronic pancreatitis		1
HP:0001977	HP:0004936	Venous thrombosis	1	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0001977	HP:0004420	Arterial thrombosis	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	948
HP:0001977	HP:0004936	Venous thrombosis	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome		948
HP:0001977	HP:0004936	Venous thrombosis	1	PTH1R CL E G H	5745	9608	ORPHA:296	Ollier disease	HP:0040283 - Occasional	58
HP:0001977	HP:0004420	Arterial thrombosis	1	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0001977	HP:0004936	Venous thrombosis	1	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	3
HP:0001977	HP:0005521	Disseminated intravascular coagulation	1	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	2
HP:0001977	HP:0005521	Disseminated intravascular coagulation	1	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040283 - Occasional	88
HP:0001977	HP:0005521	Disseminated intravascular coagulation	1	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040284 - Very rare	1200
HP:0001977	HP:0004936	Venous thrombosis	1	SAA1 CL E G H	6288	10513	ORPHA:85445	AA amyloidosis	HP:0040282 - Frequent	2
HP:0001977	HP:0001907	Thromboembolism	1	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill	HP:0040283 - Occasional	1134
HP:0001977	HP:0004936	Venous thrombosis	1	SERPINC1 CL E G H	462	775	OMIM:613118	Antithrombin III deficiency		88
HP:0001977	HP:0001907	Thromboembolism	1	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency		88
HP:0001977	HP:0004420	Arterial thrombosis	1	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040283 - Occasional	88
HP:0001977	HP:0004936	Venous thrombosis	1	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency		88
HP:0001977	HP:0005521	Disseminated intravascular coagulation	1	SERPIND1 CL E G H	3053	4838	OMIM:612356	Heparin cofactor II deficiency	.	5
HP:0001977	HP:0004936	Venous thrombosis	1	SERPIND1 CL E G H	3053	4838	OMIM:612356	Heparin cofactor II deficiency		5
HP:0001977	HP:0002641	Peripheral thrombosis	1	SH2B3 CL E G H	10019	29605	OMIM:133100	Erythrocytosis, familial, 1	.	4
HP:0001977	HP:0004936	Venous thrombosis	1	SH2B3 CL E G H	10019	29605	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	4
HP:0001977	HP:0004420	Arterial thrombosis	1	SH2B3 CL E G H	10019	29605	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	4
HP:0001977	HP:0004936	Venous thrombosis	1	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis		109
HP:0001977	HP:0001907	Thromboembolism	1	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional	109
HP:0001977	HP:0004936	Venous thrombosis	1	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	504
HP:0001977	HP:0004936	Venous thrombosis	1	SPINK1 CL E G H	6690	11244	ORPHA:676	Hereditary chronic pancreatitis		34
HP:0001977	HP:0005521	Disseminated intravascular coagulation	1	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	110
HP:0001977	HP:0004936	Venous thrombosis	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040282 - Frequent	2
HP:0001977	HP:0004420	Arterial thrombosis	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0001977	HP:0005521	Disseminated intravascular coagulation	1	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	12
HP:0001977	HP:0005521	Disseminated intravascular coagulation	1	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	22
HP:0001977	HP:0004936	Venous thrombosis	1	TET2 CL E G H	54790	25941	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	3
HP:0001977	HP:0004420	Arterial thrombosis	1	TET2 CL E G H	54790	25941	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	3
HP:0001977	HP:0004420	Arterial thrombosis	1	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	3
HP:0001977	HP:0004936	Venous thrombosis	1	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	3
HP:0001977	HP:0004936	Venous thrombosis	1	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	3
HP:0001977	HP:0004420	Arterial thrombosis	1	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	3
HP:0001977	HP:0004936	Venous thrombosis	1	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0001977	HP:0004936	Venous thrombosis	1	THBD CL E G H	7056	11784	OMIM:614486	Thrombophilia due to thrombomodulin defect		60
HP:0001977	HP:0004420	Arterial thrombosis	1	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis	HP:0040281 - Very frequent	23
HP:0001977	HP:0004936	Venous thrombosis	1	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis	HP:0040281 - Very frequent	23
HP:0001977	HP:0001907	Thromboembolism	1	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040283 - Occasional	6
HP:0001977	HP:0004420	Arterial thrombosis	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional	3
HP:0001977	HP:0004936	Venous thrombosis	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040282 - Frequent	3
HP:0001977	HP:0001907	Thromboembolism	1	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040284 - Very rare	180
HP:0001977	HP:0001907	Thromboembolism	1	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040284 - Very rare	248
HP:0001977	HP:0004420	Arterial thrombosis	1	TP53 CL E G H	7157	11998	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	911
HP:0001977	HP:0004936	Venous thrombosis	1	TP53 CL E G H	7157	11998	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	911
HP:0001977	HP:0001907	Thromboembolism	1	TTR CL E G H	7276	12405	ORPHA:85451	ATTRV122I amyloidosis		107
HP:0001977	HP:0004936	Venous thrombosis	1	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS		35
HP:0001977	HP:0001907	Thromboembolism	1	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS		35
HP:0001977	HP:0004936	Venous thrombosis	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0001977	HP:0004420	Arterial thrombosis	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001977	HP:0002641	Peripheral thrombosis	1	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2	.	490
HP:0001977	HP:0005521	Disseminated intravascular coagulation	1	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent	1
HP:0001977	HP:0005520	Chronic disseminated intravascular coagulation	2	CL E G H
HP:0001977	HP:0033724	Cerebral venous sinus thrombosis	2	CL E G H
HP:0001977	HP:0033553	Septic embolism	2	CL E G H
HP:0001977	HP:0033520	Paradoxical embolism	2	CL E G H
HP:0001977	HP:0011880	Acute disseminated intravascular coagulation	2	CL E G H
HP:0001977	HP:0001727	Thromboembolic stroke	2	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome	HP:0040281 - Very frequent	22
HP:0001977	HP:0004418	Thrombophlebitis	2	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent	54
HP:0001977	HP:0002625	Deep venous thrombosis	2	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.	54
HP:0001977	HP:0002625	Deep venous thrombosis	2	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040284 - Very rare	66
HP:0001977	HP:0030247	Splanchnic vein thrombosis	2	CASR CL E G H	846	1514	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional	272
HP:0001977	HP:0030247	Splanchnic vein thrombosis	2	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy		9
HP:0001977	HP:0030247	Splanchnic vein thrombosis	2	CFTR CL E G H	1080	1884	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional	1371
HP:0001977	HP:0030247	Splanchnic vein thrombosis	2	CPA1 CL E G H	1357	2296	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional	5
HP:0001977	HP:0030247	Splanchnic vein thrombosis	2	CTNNB1 CL E G H	1499	2514	ORPHA:33402	Pediatric hepatocellular carcinoma		88
HP:0001977	HP:0030247	Splanchnic vein thrombosis	2	CTRC CL E G H	11330	2523	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional	39
HP:0001977	HP:0002625	Deep venous thrombosis	2	EPAS1 CL E G H	2034	3374	OMIM:611783	ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4		112
HP:0001977	HP:0030247	Splanchnic vein thrombosis	2	EPAS1 CL E G H	2034	3374	OMIM:611783	ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4		112
HP:0001977	HP:0004418	Thrombophlebitis	2	F13A1 CL E G H	2162	3531	OMIM:188050	Thrombophiliavenous thromboembolism, included		60
HP:0001977	HP:0002625	Deep venous thrombosis	2	F13A1 CL E G H	2162	3531	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	60
HP:0001977	HP:0005305	Cerebral venous thrombosis	2	F13A1 CL E G H	2162	3531	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	60
HP:0001977	HP:0002625	Deep venous thrombosis	2	F2 CL E G H	2147	3535	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	44
HP:0001977	HP:0004418	Thrombophlebitis	2	F2 CL E G H	2147	3535	OMIM:188050	Thrombophiliavenous thromboembolism, included		44
HP:0001977	HP:0005305	Cerebral venous thrombosis	2	F2 CL E G H	2147	3535	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	44
HP:0001977	HP:0002625	Deep venous thrombosis	2	F5 CL E G H	2153	3542	OMIM:188055	Thrombophilia due to deficiency of activated protein C cofactor	.	159
HP:0001977	HP:0002625	Deep venous thrombosis	2	F8 CL E G H	2157	3546	OMIM:301071	THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT; THPH13		303
HP:0001977	HP:0002625	Deep venous thrombosis	2	F9 CL E G H	2158	3551	OMIM:300807	THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT; THPH8		143
HP:0001977	HP:0004418	Thrombophlebitis	2	HABP2 CL E G H	3026	4798	OMIM:188050	Thrombophiliavenous thromboembolism, included		58
HP:0001977	HP:0002625	Deep venous thrombosis	2	HABP2 CL E G H	3026	4798	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	58
HP:0001977	HP:0005305	Cerebral venous thrombosis	2	HABP2 CL E G H	3026	4798	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	58
HP:0001977	HP:0004831	Recurrent thromboembolism	2	HRG CL E G H	3273	5181	OMIM:613116	Thrombophilia due to histidine-rich glycoprotein deficiency	.	4
HP:0001977	HP:0030247	Splanchnic vein thrombosis	2	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera		57
HP:0001977	HP:0030247	Splanchnic vein thrombosis	2	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis		3
HP:0001977	HP:0001727	Thromboembolic stroke	2	KCNQ1 CL E G H	3784	6294	OMIM:607554	Atrial fibrillation, familial, 3		730
HP:0001977	HP:0030247	Splanchnic vein thrombosis	2	MET CL E G H	4233	7029	ORPHA:33402	Pediatric hepatocellular carcinoma		375
HP:0001977	HP:0002625	Deep venous thrombosis	2	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional	101
HP:0001977	HP:0030247	Splanchnic vein thrombosis	2	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera		97
HP:0001977	HP:0002625	Deep venous thrombosis	2	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040283 - Occasional	183
HP:0001977	HP:0001727	Thromboembolic stroke	2	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040283 - Occasional	183
HP:0001977	HP:0004418	Thrombophlebitis	2	MTHFR CL E G H	4524	7436	OMIM:188050	Thrombophiliavenous thromboembolism, included		183
HP:0001977	HP:0002625	Deep venous thrombosis	2	MTHFR CL E G H	4524	7436	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	183
HP:0001977	HP:0005305	Cerebral venous thrombosis	2	MTHFR CL E G H	4524	7436	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	183
HP:0001977	HP:0002625	Deep venous thrombosis	2	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040283 - Occasional	88
HP:0001977	HP:0034192	Pulmonary thromboembolism	2	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0001977	HP:0030247	Splanchnic vein thrombosis	2	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5		452
HP:0001977	HP:0005305	Cerebral venous thrombosis	2	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	113
HP:0001977	HP:0005305	Cerebral venous thrombosis	2	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It	HP:0040283 - Occasional	58
HP:0001977	HP:0030247	Splanchnic vein thrombosis	2	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis		36
HP:0001977	HP:0002625	Deep venous thrombosis	2	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III		36
HP:0001977	HP:0030247	Splanchnic vein thrombosis	2	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria		46
HP:0001977	HP:0002625	Deep venous thrombosis	2	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040282 - Frequent	46
HP:0001977	HP:0030247	Splanchnic vein thrombosis	2	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency		6
HP:0001977	HP:0002625	Deep venous thrombosis	2	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040284 - Very rare	150
HP:0001977	HP:0005305	Cerebral venous thrombosis	2	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	134
HP:0001977	HP:0004418	Thrombophlebitis	2	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive		65
HP:0001977	HP:0002625	Deep venous thrombosis	2	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive	.	65
HP:0001977	HP:0004418	Thrombophlebitis	2	PROC CL E G H	5624	9451	OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant		65
HP:0001977	HP:0002625	Deep venous thrombosis	2	PROC CL E G H	5624	9451	OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant	.	65
HP:0001977	HP:0005305	Cerebral venous thrombosis	2	PROC CL E G H	5624	9451	OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant	.	65
HP:0001977	HP:0004418	Thrombophlebitis	2	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0001977	HP:0004418	Thrombophlebitis	2	PROS1 CL E G H	5627	9456	ORPHA:743	Severe hereditary thrombophilia due to congenital protein S deficiency	HP:0040282 - Frequent	75
HP:0001977	HP:0002625	Deep venous thrombosis	2	PROS1 CL E G H	5627	9456	ORPHA:743	Severe hereditary thrombophilia due to congenital protein S deficiency	HP:0040282 - Frequent	75
HP:0001977	HP:0004418	Thrombophlebitis	2	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive		75
HP:0001977	HP:0005305	Cerebral venous thrombosis	2	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive	.	75
HP:0001977	HP:0005305	Cerebral venous thrombosis	2	PROS1 CL E G H	5627	9456	OMIM:612336	Thrombophilia, hereditary, due to protein S deficiency, autosomal	.	75
HP:0001977	HP:0004418	Thrombophlebitis	2	PROS1 CL E G H	5627	9456	OMIM:612336	Thrombophilia, hereditary, due to protein S deficiency, autosomal		75
HP:0001977	HP:0030247	Splanchnic vein thrombosis	2	PRSS1 CL E G H	5644	9475	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional	51
HP:0001977	HP:0030247	Splanchnic vein thrombosis	2	PRSS2 CL E G H	5645	9483	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional	1
HP:0001977	HP:0004418	Thrombophlebitis	2	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent	948
HP:0001977	HP:0002625	Deep venous thrombosis	2	SERPINC1 CL E G H	462	775	OMIM:613118	Antithrombin III deficiency	.	88
HP:0001977	HP:0005305	Cerebral venous thrombosis	2	SERPINC1 CL E G H	462	775	OMIM:613118	Antithrombin III deficiency	.	88
HP:0001977	HP:0004418	Thrombophlebitis	2	SERPINC1 CL E G H	462	775	OMIM:613118	Antithrombin III deficiency		88
HP:0001977	HP:0002625	Deep venous thrombosis	2	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040282 - Frequent	88
HP:0001977	HP:0004418	Thrombophlebitis	2	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency		88
HP:0001977	HP:0005305	Cerebral venous thrombosis	2	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040284 - Very rare	88
HP:0001977	HP:0030247	Splanchnic vein thrombosis	2	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency		88
HP:0001977	HP:0004831	Recurrent thromboembolism	2	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040282 - Frequent	88
HP:0001977	HP:0002625	Deep venous thrombosis	2	SERPIND1 CL E G H	3053	4838	OMIM:612356	Heparin cofactor II deficiency		5
HP:0001977	HP:0030247	Splanchnic vein thrombosis	2	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis		109
HP:0001977	HP:0030247	Splanchnic vein thrombosis	2	SPINK1 CL E G H	6690	11244	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional	34
HP:0001977	HP:0030247	Splanchnic vein thrombosis	2	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera		3
HP:0001977	HP:0004418	Thrombophlebitis	2	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0001977	HP:0002625	Deep venous thrombosis	2	THBD CL E G H	7056	11784	OMIM:614486	Thrombophilia due to thrombomodulin defect	.	60
HP:0001977	HP:0002625	Deep venous thrombosis	2	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS		35
HP:0001977	HP:0033639	Septic pulmonary embolism	3	CL E G H
HP:0001977	HP:0030243	Hepatic vein thrombosis	3	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy	.	9
HP:0001977	HP:0030242	Portal vein thrombosis	3	CTNNB1 CL E G H	1499	2514	ORPHA:33402	Pediatric hepatocellular carcinoma	HP:0040282 - Frequent	88
HP:0001977	HP:0030248	Mesenteric venous thrombosis	3	EPAS1 CL E G H	2034	3374	OMIM:611783	ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4		112
HP:0001977	HP:0004419	Recurrent thrombophlebitis	3	F13A1 CL E G H	2162	3531	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	60
HP:0001977	HP:0004419	Recurrent thrombophlebitis	3	F2 CL E G H	2147	3535	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	44
HP:0001977	HP:0004419	Recurrent thrombophlebitis	3	HABP2 CL E G H	3026	4798	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	58
HP:0001977	HP:0030242	Portal vein thrombosis	3	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	57
HP:0001977	HP:0030242	Portal vein thrombosis	3	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040284 - Very rare	3
HP:0001977	HP:0030242	Portal vein thrombosis	3	MET CL E G H	4233	7029	ORPHA:33402	Pediatric hepatocellular carcinoma	HP:0040282 - Frequent	375
HP:0001977	HP:0030242	Portal vein thrombosis	3	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	97
HP:0001977	HP:0004419	Recurrent thrombophlebitis	3	MTHFR CL E G H	4524	7436	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	183
HP:0001977	HP:0030242	Portal vein thrombosis	3	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5	HP:0040283 - Occasional	452
HP:0001977	HP:0030242	Portal vein thrombosis	3	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040284 - Very rare	36
HP:0001977	HP:0030248	Mesenteric venous thrombosis	3	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040283 - Occasional	46
HP:0001977	HP:0030243	Hepatic vein thrombosis	3	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency	.	6
HP:0001977	HP:0030242	Portal vein thrombosis	3	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency	.	6
HP:0001977	HP:0004850	Recurrent deep vein thrombosis	3	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive		65
HP:0001977	HP:0002638	Superficial thrombophlebitis	3	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive	.	65
HP:0001977	HP:0002638	Superficial thrombophlebitis	3	PROC CL E G H	5624	9451	OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant	.	65
HP:0001977	HP:0002638	Superficial thrombophlebitis	3	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive	.	75
HP:0001977	HP:0002638	Superficial thrombophlebitis	3	PROS1 CL E G H	5627	9456	OMIM:612336	Thrombophilia, hereditary, due to protein S deficiency, autosomal	.	75
HP:0001977	HP:0004419	Recurrent thrombophlebitis	3	SERPINC1 CL E G H	462	775	OMIM:613118	Antithrombin III deficiency	.	88
HP:0001977	HP:0030243	Hepatic vein thrombosis	3	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040283 - Occasional	88
HP:0001977	HP:0030248	Mesenteric venous thrombosis	3	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040283 - Occasional	88
HP:0001977	HP:0002638	Superficial thrombophlebitis	3	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040282 - Frequent	88
HP:0001977	HP:0030242	Portal vein thrombosis	3	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040283 - Occasional	88
HP:0001977	HP:0004850	Recurrent deep vein thrombosis	3	SERPIND1 CL E G H	3053	4838	OMIM:612356	Heparin cofactor II deficiency	.	5
HP:0001977	HP:0030242	Portal vein thrombosis	3	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040284 - Very rare	109
HP:0001977	HP:0030242	Portal vein thrombosis	3	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	3
HP:0001977	HP:0004419	Recurrent thrombophlebitis	3	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162