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:0001928	HP:0001928	Abnormality of coagulation	0	ABCC2 CL E G H	1244	53	ORPHA:234	Dubin-Johnson syndrome	HP:0040283 - Occasional	119
HP:0001928	HP:0001928	Abnormality of coagulation	0	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5		5
HP:0001928	HP:0001928	Abnormality of coagulation	0	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency		98
HP:0001928	HP:0001928	Abnormality of coagulation	0	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	11
HP:0001928	HP:0001928	Abnormality of coagulation	0	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency		26
HP:0001928	HP:0001928	Abnormality of coagulation	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA		76
HP:0001928	HP:0001928	Abnormality of coagulation	0	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome		1
HP:0001928	HP:0001928	Abnormality of coagulation	0	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040282 - Frequent	31
HP:0001928	HP:0001928	Abnormality of coagulation	0	AKR1D1 CL E G H	6718	388	OMIM:235555	Bile acid synthesis defect, congenital, 2		62
HP:0001928	HP:0001928	Abnormality of coagulation	0	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0001928	HP:0001928	Abnormality of coagulation	0	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance		73
HP:0001928	HP:0001928	Abnormality of coagulation	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0001928	HP:0001928	Abnormality of coagulation	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0001928	HP:0001928	Abnormality of coagulation	0	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36		96
HP:0001928	HP:0001928	Abnormality of coagulation	0	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG	HP:0040282 - Frequent	46
HP:0001928	HP:0001928	Abnormality of coagulation	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii	.	46
HP:0001928	HP:0001928	Abnormality of coagulation	0	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG		66
HP:0001928	HP:0001928	Abnormality of coagulation	0	ALG6 CL E G H	29929	23157	OMIM:603147	Congenital disorder of glycosylation, type Ic		66
HP:0001928	HP:0001928	Abnormality of coagulation	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG		46
HP:0001928	HP:0001928	Abnormality of coagulation	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0001928	HP:0001928	Abnormality of coagulation	0	AMACR CL E G H	23600	451	OMIM:214950	Bile acid synthesis defect, congenital, 4		44
HP:0001928	HP:0001928	Abnormality of coagulation	0	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis		150
HP:0001928	HP:0001928	Abnormality of coagulation	0	ANO6 CL E G H	196527	25240	OMIM:262890	Scott syndrome		12
HP:0001928	HP:0001928	Abnormality of coagulation	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0001928	HP:0001928	Abnormality of coagulation	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0001928	HP:0001928	Abnormality of coagulation	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0001928	HP:0001928	Abnormality of coagulation	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0001928	HP:0001928	Abnormality of coagulation	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0001928	HP:0001928	Abnormality of coagulation	0	B4GALT1 CL E G H	2683	924	OMIM:607091	Congenital disorder of glycosylation, type IID	.	85
HP:0001928	HP:0001928	Abnormality of coagulation	0	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia		101
HP:0001928	HP:0001928	Abnormality of coagulation	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0001928	HP:0001928	Abnormality of coagulation	0	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia		247
HP:0001928	HP:0001928	Abnormality of coagulation	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	317
HP:0001928	HP:0001928	Abnormality of coagulation	0	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome		39
HP:0001928	HP:0001928	Abnormality of coagulation	0	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome		86
HP:0001928	HP:0001928	Abnormality of coagulation	0	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome		57
HP:0001928	HP:0001928	Abnormality of coagulation	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0001928	HP:0001928	Abnormality of coagulation	0	COG2 CL E G H	22796	6546	ORPHA:435934	COG2-CDG		2
HP:0001928	HP:0001928	Abnormality of coagulation	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG		67
HP:0001928	HP:0001928	Abnormality of coagulation	0	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG		39
HP:0001928	HP:0001928	Abnormality of coagulation	0	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0001928	HP:0001928	Abnormality of coagulation	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	160
HP:0001928	HP:0001928	Abnormality of coagulation	0	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3		57
HP:0001928	HP:0001928	Abnormality of coagulation	0	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG		62
HP:0001928	HP:0001928	Abnormality of coagulation	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	65
HP:0001928	HP:0001928	Abnormality of coagulation	0	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	65
HP:0001928	HP:0001928	Abnormality of coagulation	0	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency		89
HP:0001928	HP:0001928	Abnormality of coagulation	0	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij		38
HP:0001928	HP:0001928	Abnormality of coagulation	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG		38
HP:0001928	HP:0001928	Abnormality of coagulation	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE		27
HP:0001928	HP:0001928	Abnormality of coagulation	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG		27
HP:0001928	HP:0001928	Abnormality of coagulation	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy		26
HP:0001928	HP:0001928	Abnormality of coagulation	0	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2		1
HP:0001928	HP:0001928	Abnormality of coagulation	0	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis		51
HP:0001928	HP:0001928	Abnormality of coagulation	0	F10 CL E G H	2159	3528	ORPHA:328	Congenital factor X deficiency		33
HP:0001928	HP:0001928	Abnormality of coagulation	0	F10 CL E G H	2159	3528	OMIM:227600	Factor X deficiency		33
HP:0001928	HP:0001928	Abnormality of coagulation	0	F11 CL E G H	2160	3529	ORPHA:329	Congenital factor XI deficiency		132
HP:0001928	HP:0001928	Abnormality of coagulation	0	F11 CL E G H	2160	3529	OMIM:612416	Factor XI deficiency		132
HP:0001928	HP:0001928	Abnormality of coagulation	0	F12 CL E G H	2161	3530	ORPHA:330	Congenital factor XII deficiency		28
HP:0001928	HP:0001928	Abnormality of coagulation	0	F12 CL E G H	2161	3530	OMIM:234000	Factor XII deficiency		28
HP:0001928	HP:0001928	Abnormality of coagulation	0	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency		60
HP:0001928	HP:0001928	Abnormality of coagulation	0	F13A1 CL E G H	2162	3531	OMIM:613225	Factor XIII, A subunit, deficiency of		60
HP:0001928	HP:0001928	Abnormality of coagulation	0	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency		32
HP:0001928	HP:0001928	Abnormality of coagulation	0	F13B CL E G H	2165	3534	OMIM:613235	Factor XIIIB deficiency		32
HP:0001928	HP:0001928	Abnormality of coagulation	0	F2 CL E G H	2147	3535	ORPHA:325	Congenital factor II deficiency		44
HP:0001928	HP:0001928	Abnormality of coagulation	0	F2 CL E G H	2147	3535	OMIM:613679	Congenital prothrombin deficiency		44
HP:0001928	HP:0001928	Abnormality of coagulation	0	F5 CL E G H	2153	3542	OMIM:227400	Factor V deficiency		159
HP:0001928	HP:0001928	Abnormality of coagulation	0	F5 CL E G H	2153	3542	OMIM:188055	Thrombophilia due to deficiency of activated protein C cofactor		159
HP:0001928	HP:0001928	Abnormality of coagulation	0	F7 CL E G H	2155	3544	ORPHA:327	Congenital factor VII deficiency		70
HP:0001928	HP:0001928	Abnormality of coagulation	0	F7 CL E G H	2155	3544	OMIM:227500	Factor VII deficiency		70
HP:0001928	HP:0001928	Abnormality of coagulation	0	F8 CL E G H	2157	3546	ORPHA:177926	Bleeding disorder in hemophilia A carriers without FVIII deficiency		303
HP:0001928	HP:0001928	Abnormality of coagulation	0	F8 CL E G H	2157	3546	OMIM:306700	Hemophilia A		303
HP:0001928	HP:0001928	Abnormality of coagulation	0	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A		303
HP:0001928	HP:0001928	Abnormality of coagulation	0	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A		303
HP:0001928	HP:0001928	Abnormality of coagulation	0	F8 CL E G H	2157	3546	OMIM:301071	THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT; THPH13		303
HP:0001928	HP:0001928	Abnormality of coagulation	0	F9 CL E G H	2158	3551	OMIM:306900	Hemophilia B		143
HP:0001928	HP:0001928	Abnormality of coagulation	0	F9 CL E G H	2158	3551	OMIM:300807	THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT; THPH8		143
HP:0001928	HP:0001928	Abnormality of coagulation	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I	.	107
HP:0001928	HP:0001928	Abnormality of coagulation	0	FGA CL E G H	2243	3661	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		47
HP:0001928	HP:0001928	Abnormality of coagulation	0	FGB CL E G H	2244	3662	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		62
HP:0001928	HP:0001928	Abnormality of coagulation	0	FGG CL E G H	2266	3694	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		34
HP:0001928	HP:0001928	Abnormality of coagulation	0	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia		4
HP:0001928	HP:0001928	Abnormality of coagulation	0	FLNA CL E G H	2316	3754	OMIM:300049	Heterotopia, periventricular, X-linked dominant		493
HP:0001928	HP:0001928	Abnormality of coagulation	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0001928	HP:0001928	Abnormality of coagulation	0	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040282 - Frequent	351
HP:0001928	HP:0001928	Abnormality of coagulation	0	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome		137
HP:0001928	HP:0001928	Abnormality of coagulation	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome		37
HP:0001928	HP:0001928	Abnormality of coagulation	0	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17		3
HP:0001928	HP:0001928	Abnormality of coagulation	0	GGCX CL E G H	2677	4247	ORPHA:91135	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	HP:0040281 - Very frequent	129
HP:0001928	HP:0001928	Abnormality of coagulation	0	GGCX CL E G H	2677	4247	OMIM:610842	PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY		129
HP:0001928	HP:0001928	Abnormality of coagulation	0	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0001928	HP:0001928	Abnormality of coagulation	0	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma
HP:0001928	HP:0001928	Abnormality of coagulation	0	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria		173
HP:0001928	HP:0001928	Abnormality of coagulation	0	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome		23
HP:0001928	HP:0001928	Abnormality of coagulation	0	GP1BA CL E G H	2811	4439	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		23
HP:0001928	HP:0001928	Abnormality of coagulation	0	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome		8
HP:0001928	HP:0001928	Abnormality of coagulation	0	GP1BB CL E G H	2812	4440	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		8
HP:0001928	HP:0001928	Abnormality of coagulation	0	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome		21
HP:0001928	HP:0001928	Abnormality of coagulation	0	GP9 CL E G H	2815	4444	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		21
HP:0001928	HP:0001928	Abnormality of coagulation	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0001928	HP:0001928	Abnormality of coagulation	0	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency		41
HP:0001928	HP:0001928	Abnormality of coagulation	0	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma
HP:0001928	HP:0001928	Abnormality of coagulation	0	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
HP:0001928	HP:0001928	Abnormality of coagulation	0	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia		580
HP:0001928	HP:0001928	Abnormality of coagulation	0	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome
HP:0001928	HP:0001928	Abnormality of coagulation	0	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0001928	HP:0001928	Abnormality of coagulation	0	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0001928	HP:0001928	Abnormality of coagulation	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria		35
HP:0001928	HP:0001928	Abnormality of coagulation	0	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency		35
HP:0001928	HP:0001928	Abnormality of coagulation	0	HRG CL E G H	3273	5181	OMIM:613116	Thrombophilia due to histidine-rich glycoprotein deficiency		4
HP:0001928	HP:0001928	Abnormality of coagulation	0	HSD17B10 CL E G H	3028	4800	ORPHA:391457	HSD10 disease, neonatal type		19
HP:0001928	HP:0001928	Abnormality of coagulation	0	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1		26
HP:0001928	HP:0001928	Abnormality of coagulation	0	HSD3B7 CL E G H	80270	18324	ORPHA:79301	Congenital bile acid synthesis defect type 1	HP:0040282 - Frequent	26
HP:0001928	HP:0001928	Abnormality of coagulation	0	IDH1 CL E G H	3417	5382	ORPHA:296	Ollier disease	HP:0040283 - Occasional	15
HP:0001928	HP:0001928	Abnormality of coagulation	0	IDH2 CL E G H	3418	5383	ORPHA:296	Ollier disease	HP:0040283 - Occasional	29
HP:0001928	HP:0001928	Abnormality of coagulation	0	IKZF5 CL E G H	64376	14283	OMIM:619130	THROMBOCYTOPENIA 7; THC7
HP:0001928	HP:0001928	Abnormality of coagulation	0	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia		4
HP:0001928	HP:0001928	Abnormality of coagulation	0	ITGA2B CL E G H	3674	6138	ORPHA:849	Glanzmann thrombasthenia		69
HP:0001928	HP:0001928	Abnormality of coagulation	0	ITGB2 CL E G H	3689	6155	OMIM:116920	Leukocyte adhesion deficiency, type I		114
HP:0001928	HP:0001928	Abnormality of coagulation	0	ITGB3 CL E G H	3690	6156	ORPHA:849	Glanzmann thrombasthenia		80
HP:0001928	HP:0001928	Abnormality of coagulation	0	KLKB1 CL E G H	3818	6371	OMIM:612423	PREKALLIKREIN DEFICIENCY		8
HP:0001928	HP:0001928	Abnormality of coagulation	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	196
HP:0001928	HP:0001928	Abnormality of coagulation	0	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1
HP:0001928	HP:0001928	Abnormality of coagulation	0	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII		56
HP:0001928	HP:0001928	Abnormality of coagulation	0	LMAN1 CL E G H	3998	6631	OMIM:227300	Factor V and factor VIII, combined deficiency of		56
HP:0001928	HP:0001928	Abnormality of coagulation	0	LYST CL E G H	1130	1968	ORPHA:352723	Attenuated Chédiak-Higashi syndrome	HP:0040281 - Very frequent	239
HP:0001928	HP:0001928	Abnormality of coagulation	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome		239
HP:0001928	HP:0001928	Abnormality of coagulation	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	43
HP:0001928	HP:0001928	Abnormality of coagulation	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0001928	HP:0001928	Abnormality of coagulation	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0001928	HP:0001928	Abnormality of coagulation	0	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII		77
HP:0001928	HP:0001928	Abnormality of coagulation	0	MCFD2 CL E G H	90411	18451	OMIM:613625	Factor V and factor VIII, combined deficiency of		77
HP:0001928	HP:0001928	Abnormality of coagulation	0	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001928	HP:0001928	Abnormality of coagulation	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa		39
HP:0001928	HP:0001928	Abnormality of coagulation	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG		39
HP:0001928	HP:0001928	Abnormality of coagulation	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0001928	HP:0001928	Abnormality of coagulation	0	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF		32
HP:0001928	HP:0001928	Abnormality of coagulation	0	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib		51
HP:0001928	HP:0001928	Abnormality of coagulation	0	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG		51
HP:0001928	HP:0001928	Abnormality of coagulation	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0001928	HP:0001928	Abnormality of coagulation	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0001928	HP:0001928	Abnormality of coagulation	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia		81
HP:0001928	HP:0001928	Abnormality of coagulation	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia		9
HP:0001928	HP:0001928	Abnormality of coagulation	0	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0001928	HP:0001928	Abnormality of coagulation	0	NBAS CL E G H	51594	15625	OMIM:616483	INFANTILE LIVER FAILURE SYNDROME 2; ILFS2		25
HP:0001928	HP:0001928	Abnormality of coagulation	0	NBEAL2 CL E G H	23218	31928	OMIM:139090	Gray platelet syndrome		127
HP:0001928	HP:0001928	Abnormality of coagulation	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome		32
HP:0001928	HP:0001928	Abnormality of coagulation	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	27
HP:0001928	HP:0001928	Abnormality of coagulation	0	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0001928	HP:0001928	Abnormality of coagulation	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	17
HP:0001928	HP:0001928	Abnormality of coagulation	0	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia		12
HP:0001928	HP:0001928	Abnormality of coagulation	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	12
HP:0001928	HP:0001928	Abnormality of coagulation	0	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0001928	HP:0001928	Abnormality of coagulation	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	102
HP:0001928	HP:0001928	Abnormality of coagulation	0	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0001928	HP:0001928	Abnormality of coagulation	0	ORAI1 CL E G H	84876	25896	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome	HP:0040281 - Very frequent	19
HP:0001928	HP:0001928	Abnormality of coagulation	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5		73
HP:0001928	HP:0001928	Abnormality of coagulation	0	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to		369
HP:0001928	HP:0001928	Abnormality of coagulation	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	26
HP:0001928	HP:0001928	Abnormality of coagulation	0	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	26
HP:0001928	HP:0001928	Abnormality of coagulation	0	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0001928	HP:0001928	Abnormality of coagulation	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	169
HP:0001928	HP:0001928	Abnormality of coagulation	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	75
HP:0001928	HP:0001928	Abnormality of coagulation	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	4
HP:0001928	HP:0001928	Abnormality of coagulation	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	65
HP:0001928	HP:0001928	Abnormality of coagulation	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	66
HP:0001928	HP:0001928	Abnormality of coagulation	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	46
HP:0001928	HP:0001928	Abnormality of coagulation	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	59
HP:0001928	HP:0001928	Abnormality of coagulation	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	62
HP:0001928	HP:0001928	Abnormality of coagulation	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	82
HP:0001928	HP:0001928	Abnormality of coagulation	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	106
HP:0001928	HP:0001928	Abnormality of coagulation	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	47
HP:0001928	HP:0001928	Abnormality of coagulation	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	99
HP:0001928	HP:0001928	Abnormality of coagulation	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional	98
HP:0001928	HP:0001928	Abnormality of coagulation	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0001928	HP:0001928	Abnormality of coagulation	0	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia		11
HP:0001928	HP:0001928	Abnormality of coagulation	0	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included		11
HP:0001928	HP:0001928	Abnormality of coagulation	0	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia		3
HP:0001928	HP:0001928	Abnormality of coagulation	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0001928	HP:0001928	Abnormality of coagulation	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0001928	HP:0001928	Abnormality of coagulation	0	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		58
HP:0001928	HP:0001928	Abnormality of coagulation	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0001928	HP:0001928	Abnormality of coagulation	0	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia		134
HP:0001928	HP:0001928	Abnormality of coagulation	0	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive		65
HP:0001928	HP:0001928	Abnormality of coagulation	0	PROC CL E G H	5624	9451	OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant		65
HP:0001928	HP:0001928	Abnormality of coagulation	0	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive		75
HP:0001928	HP:0001928	Abnormality of coagulation	0	PROS1 CL E G H	5627	9456	OMIM:612336	Thrombophilia, hereditary, due to protein S deficiency, autosomal		75
HP:0001928	HP:0001928	Abnormality of coagulation	0	PTH1R CL E G H	5745	9608	ORPHA:296	Ollier disease	HP:0040283 - Occasional	58
HP:0001928	HP:0001928	Abnormality of coagulation	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	291
HP:0001928	HP:0001928	Abnormality of coagulation	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0001928	HP:0001928	Abnormality of coagulation	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	212
HP:0001928	HP:0001928	Abnormality of coagulation	0	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia		2
HP:0001928	HP:0001928	Abnormality of coagulation	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	3
HP:0001928	HP:0001928	Abnormality of coagulation	0	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome	HP:0040281 - Very frequent	10
HP:0001928	HP:0001928	Abnormality of coagulation	0	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN		92
HP:0001928	HP:0001928	Abnormality of coagulation	0	RFT1 CL E G H	91869	30220	ORPHA:244310	RFT1-CDG	HP:0040282 - Frequent	92
HP:0001928	HP:0001928	Abnormality of coagulation	0	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3		99
HP:0001928	HP:0001928	Abnormality of coagulation	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	39
HP:0001928	HP:0001928	Abnormality of coagulation	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0001928	HP:0001928	Abnormality of coagulation	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	1
HP:0001928	HP:0001928	Abnormality of coagulation	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	77
HP:0001928	HP:0001928	Abnormality of coagulation	0	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	77
HP:0001928	HP:0001928	Abnormality of coagulation	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia		1200
HP:0001928	HP:0001928	Abnormality of coagulation	0	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia		1200
HP:0001928	HP:0001928	Abnormality of coagulation	0	RYR1 CL E G H	6261	10483	OMIM:145600	Malignant hyperthermia, susceptibility to, 1		1200
HP:0001928	HP:0001928	Abnormality of coagulation	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0001928	HP:0001928	Abnormality of coagulation	0	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome		47
HP:0001928	HP:0001928	Abnormality of coagulation	0	SERPINC1 CL E G H	462	775	OMIM:613118	Antithrombin III deficiency		88
HP:0001928	HP:0001928	Abnormality of coagulation	0	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency		88
HP:0001928	HP:0001928	Abnormality of coagulation	0	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency		39
HP:0001928	HP:0001928	Abnormality of coagulation	0	SERPINF2 CL E G H	5345	9075	ORPHA:79	Congenital alpha2-antiplasmin deficiency		8
HP:0001928	HP:0001928	Abnormality of coagulation	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0001928	HP:0001928	Abnormality of coagulation	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency		82
HP:0001928	HP:0001928	Abnormality of coagulation	0	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome		88
HP:0001928	HP:0001928	Abnormality of coagulation	0	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040283 - Occasional	42
HP:0001928	HP:0001928	Abnormality of coagulation	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0001928	HP:0001928	Abnormality of coagulation	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib		110
HP:0001928	HP:0001928	Abnormality of coagulation	0	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis		109
HP:0001928	HP:0001928	Abnormality of coagulation	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0001928	HP:0001928	Abnormality of coagulation	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	315
HP:0001928	HP:0001928	Abnormality of coagulation	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0001928	HP:0001928	Abnormality of coagulation	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent	30
HP:0001928	HP:0001928	Abnormality of coagulation	0	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9		30
HP:0001928	HP:0001928	Abnormality of coagulation	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0001928	HP:0001928	Abnormality of coagulation	0	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis		228
HP:0001928	HP:0001928	Abnormality of coagulation	0	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis		156
HP:0001928	HP:0001928	Abnormality of coagulation	0	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ		80
HP:0001928	HP:0001928	Abnormality of coagulation	0	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG	HP:0040283 - Occasional	80
HP:0001928	HP:0001928	Abnormality of coagulation	0	SSR4 CL E G H	6748	11326	OMIM:300934	Congenital disorder of glycosylation, type Iy	HP:0040283 - Occasional	12
HP:0001928	HP:0001928	Abnormality of coagulation	0	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG	HP:0040283 - Occasional	12
HP:0001928	HP:0001928	Abnormality of coagulation	0	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3		9
HP:0001928	HP:0001928	Abnormality of coagulation	0	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia		110
HP:0001928	HP:0001928	Abnormality of coagulation	0	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia		12
HP:0001928	HP:0001928	Abnormality of coagulation	0	STIM1 CL E G H	6786	11386	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome	HP:0040281 - Very frequent	31
HP:0001928	HP:0001928	Abnormality of coagulation	0	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		85
HP:0001928	HP:0001928	Abnormality of coagulation	0	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0001928	HP:0001928	Abnormality of coagulation	0	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		70
HP:0001928	HP:0001928	Abnormality of coagulation	0	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia		22
HP:0001928	HP:0001928	Abnormality of coagulation	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0001928	HP:0001928	Abnormality of coagulation	0	TEK CL E G H	7010	11724	ORPHA:1059	Blue rubber bleb nevus	HP:0040282 - Frequent	78
HP:0001928	HP:0001928	Abnormality of coagulation	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	48
HP:0001928	HP:0001928	Abnormality of coagulation	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	238
HP:0001928	HP:0001928	Abnormality of coagulation	0	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	238
HP:0001928	HP:0001928	Abnormality of coagulation	0	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)		1
HP:0001928	HP:0001928	Abnormality of coagulation	0	THBD CL E G H	7056	11784	OMIM:614486	Thrombophilia due to thrombomodulin defect		60
HP:0001928	HP:0001928	Abnormality of coagulation	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	60
HP:0001928	HP:0001928	Abnormality of coagulation	0	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	60
HP:0001928	HP:0001928	Abnormality of coagulation	0	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient		101
HP:0001928	HP:0001928	Abnormality of coagulation	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	1
HP:0001928	HP:0001928	Abnormality of coagulation	0	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		116
HP:0001928	HP:0001928	Abnormality of coagulation	0	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0001928	HP:0001928	Abnormality of coagulation	0	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0001928	HP:0001928	Abnormality of coagulation	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	8
HP:0001928	HP:0001928	Abnormality of coagulation	0	VKORC1 CL E G H	79001	23663	OMIM:607473	Vitamin K-dependent clotting factors, combined deficiency of, 2		25
HP:0001928	HP:0001928	Abnormality of coagulation	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional	1
HP:0001928	HP:0001928	Abnormality of coagulation	0	VPS33B CL E G H	26276	12712	OMIM:620010			63
HP:0001928	HP:0001928	Abnormality of coagulation	0	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1		533
HP:0001928	HP:0001928	Abnormality of coagulation	0	VWF CL E G H	7450	12726	OMIM:277480	Von willebrand disease, type 3		533
HP:0001928	HP:0001928	Abnormality of coagulation	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	40
HP:0001928	HP:0001928	Abnormality of coagulation	0	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2		81
HP:0001928	HP:0001928	Abnormality of coagulation	0	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia		1
HP:0001928	HP:0020193	Prolonged reptilase time	1	CL E G H
HP:0001928	HP:0003645	Prolonged partial thromboplastin time	1	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5		5
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency		98
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency		26
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA		76
HP:0001928	HP:0100724	Hypercoagulability	1	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome	HP:0040283 - Occasional	1
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency		31
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	AKR1D1 CL E G H	6718	388	OMIM:235555	Bile acid synthesis defect, congenital, 2	.	62
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0001928	HP:0003645	Prolonged partial thromboplastin time	1	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance	HP:0040283 - Occasional	73
HP:0001928	HP:0003645	Prolonged partial thromboplastin time	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040282 - Frequent	68
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040281 - Very frequent	68
HP:0001928	HP:0003645	Prolonged partial thromboplastin time	1	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0001928	HP:0003645	Prolonged partial thromboplastin time	1	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36		96
HP:0001928	HP:0003645	Prolonged partial thromboplastin time	1	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii		46
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii		46
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040283 - Occasional	66
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	ALG6 CL E G H	29929	23157	OMIM:603147	Congenital disorder of glycosylation, type Ic		66
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040282 - Frequent	46
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	AMACR CL E G H	23600	451	OMIM:214950	Bile acid synthesis defect, congenital, 4	.	44
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis		150
HP:0001928	HP:0100724	Hypercoagulability	1	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	150
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	ANO6 CL E G H	196527	25240	OMIM:262890	Scott syndrome		12
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0001928	HP:0003645	Prolonged partial thromboplastin time	1	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia		101
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040283 - Occasional	247
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome		39
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome		86
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome		57
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	COG2 CL E G H	22796	6546	ORPHA:435934	COG2-CDG		2
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040282 - Frequent	67
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG		39
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3	.	57
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG	HP:0040281 - Very frequent	62
HP:0001928	HP:0100724	Hypercoagulability	1	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency	HP:0040282 - Frequent	89
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij		38
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG		38
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE		27
HP:0001928	HP:0003645	Prolonged partial thromboplastin time	1	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.	27
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG		27
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy		26
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2		1
HP:0001928	HP:0003645	Prolonged partial thromboplastin time	1	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2	.	1
HP:0001928	HP:0100724	Hypercoagulability	1	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	51
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis		51
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	F10 CL E G H	2159	3528	ORPHA:328	Congenital factor X deficiency		33
HP:0001928	HP:0003645	Prolonged partial thromboplastin time	1	F10 CL E G H	2159	3528	OMIM:227600	Factor X deficiency	.	33
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	F10 CL E G H	2159	3528	OMIM:227600	Factor X deficiency		33
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	F11 CL E G H	2160	3529	ORPHA:329	Congenital factor XI deficiency		132
HP:0001928	HP:0003645	Prolonged partial thromboplastin time	1	F11 CL E G H	2160	3529	ORPHA:329	Congenital factor XI deficiency	HP:0040281 - Very frequent	132
HP:0001928	HP:0003645	Prolonged partial thromboplastin time	1	F11 CL E G H	2160	3529	OMIM:612416	Factor XI deficiency	.	132
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	F11 CL E G H	2160	3529	OMIM:612416	Factor XI deficiency		132
HP:0001928	HP:0003645	Prolonged partial thromboplastin time	1	F12 CL E G H	2161	3530	ORPHA:330	Congenital factor XII deficiency	HP:0040281 - Very frequent	28
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	F12 CL E G H	2161	3530	ORPHA:330	Congenital factor XII deficiency		28
HP:0001928	HP:0005542	Prolonged whole-blood clotting time	1	F12 CL E G H	2161	3530	OMIM:234000	Factor XII deficiency	.	28
HP:0001928	HP:0003645	Prolonged partial thromboplastin time	1	F12 CL E G H	2161	3530	OMIM:234000	Factor XII deficiency	.	28
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	F12 CL E G H	2161	3530	OMIM:234000	Factor XII deficiency		28
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency		60
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	F13A1 CL E G H	2162	3531	OMIM:613225	Factor XIII, A subunit, deficiency of		60
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency		32
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	F13B CL E G H	2165	3534	OMIM:613235	Factor XIIIB deficiency		32
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	F2 CL E G H	2147	3535	ORPHA:325	Congenital factor II deficiency		44
HP:0001928	HP:0003645	Prolonged partial thromboplastin time	1	F2 CL E G H	2147	3535	ORPHA:325	Congenital factor II deficiency	HP:0040281 - Very frequent	44
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	F2 CL E G H	2147	3535	OMIM:613679	Congenital prothrombin deficiency		44
HP:0001928	HP:0003645	Prolonged partial thromboplastin time	1	F2 CL E G H	2147	3535	OMIM:613679	Congenital prothrombin deficiency	.	44
HP:0001928	HP:0003645	Prolonged partial thromboplastin time	1	F5 CL E G H	2153	3542	OMIM:227400	Factor V deficiency	.	159
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	F5 CL E G H	2153	3542	OMIM:227400	Factor V deficiency		159
HP:0001928	HP:0005542	Prolonged whole-blood clotting time	1	F5 CL E G H	2153	3542	OMIM:227400	Factor V deficiency	.	159
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	F5 CL E G H	2153	3542	OMIM:188055	Thrombophilia due to deficiency of activated protein C cofactor		159
HP:0001928	HP:0100724	Hypercoagulability	1	F5 CL E G H	2153	3542	OMIM:188055	Thrombophilia due to deficiency of activated protein C cofactor	.	159
HP:0001928	HP:0003645	Prolonged partial thromboplastin time	1	F5 CL E G H	2153	3542	OMIM:188055	Thrombophilia due to deficiency of activated protein C cofactor	.	159
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	F7 CL E G H	2155	3544	ORPHA:327	Congenital factor VII deficiency		70
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	F7 CL E G H	2155	3544	OMIM:227500	Factor VII deficiency		70
HP:0001928	HP:0003645	Prolonged partial thromboplastin time	1	F8 CL E G H	2157	3546	ORPHA:177926	Bleeding disorder in hemophilia A carriers without FVIII deficiency	HP:0040283 - Occasional	303
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	F8 CL E G H	2157	3546	ORPHA:177926	Bleeding disorder in hemophilia A carriers without FVIII deficiency		303
HP:0001928	HP:0003645	Prolonged partial thromboplastin time	1	F8 CL E G H	2157	3546	OMIM:306700	Hemophilia A	.	303
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	F8 CL E G H	2157	3546	OMIM:306700	Hemophilia A		303
HP:0001928	HP:0003645	Prolonged partial thromboplastin time	1	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A	HP:0040281 - Very frequent	303
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A		303
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A		303
HP:0001928	HP:0003645	Prolonged partial thromboplastin time	1	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A	HP:0040281 - Very frequent	303
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	F8 CL E G H	2157	3546	OMIM:301071	THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT; THPH13		303
HP:0001928	HP:0003645	Prolonged partial thromboplastin time	1	F9 CL E G H	2158	3551	OMIM:306900	Hemophilia B	.	143
HP:0001928	HP:0005542	Prolonged whole-blood clotting time	1	F9 CL E G H	2158	3551	OMIM:306900	Hemophilia B	.	143
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	F9 CL E G H	2158	3551	OMIM:306900	Hemophilia B		143
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	F9 CL E G H	2158	3551	OMIM:300807	THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT; THPH8		143
HP:0001928	HP:0100724	Hypercoagulability	1	F9 CL E G H	2158	3551	OMIM:300807	THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT; THPH8		143
HP:0001928	HP:0003645	Prolonged partial thromboplastin time	1	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	FGA CL E G H	2243	3661	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		47
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	FGB CL E G H	2244	3662	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		62
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	FGG CL E G H	2266	3694	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		34
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia		4
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	FLNA CL E G H	2316	3754	OMIM:300049	Heterotopia, periventricular, X-linked dominant	.	493
HP:0001928	HP:0100724	Hypercoagulability	1	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040282 - Frequent	137
HP:0001928	HP:0003645	Prolonged partial thromboplastin time	1	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040283 - Occasional	37
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17		3
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	GGCX CL E G H	2677	4247	OMIM:610842	PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY		129
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0001928	HP:0003645	Prolonged partial thromboplastin time	1	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1	.	129
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma
HP:0001928	HP:0003645	Prolonged partial thromboplastin time	1	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent	173
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria		173
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome		23
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	GP1BA CL E G H	2811	4439	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		23
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome		8
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	GP1BB CL E G H	2812	4440	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		8
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome		21
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	GP9 CL E G H	2815	4444	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		21
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency		41
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma	HP:0040282 - Frequent
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
HP:0001928	HP:0100724	Hypercoagulability	1	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040282 - Frequent	580
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome
HP:0001928	HP:0003645	Prolonged partial thromboplastin time	1	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0001928	HP:0003645	Prolonged partial thromboplastin time	1	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria		35
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency		35
HP:0001928	HP:0100724	Hypercoagulability	1	HRG CL E G H	3273	5181	OMIM:613116	Thrombophilia due to histidine-rich glycoprotein deficiency	.	4
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	HSD17B10 CL E G H	3028	4800	ORPHA:391457	HSD10 disease, neonatal type	HP:0040283 - Occasional	19
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1	.	26
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	IKZF5 CL E G H	64376	14283	OMIM:619130	THROMBOCYTOPENIA 7; THC7
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia		4
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	ITGA2B CL E G H	3674	6138	ORPHA:849	Glanzmann thrombasthenia		69
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	ITGB2 CL E G H	3689	6155	OMIM:116920	Leukocyte adhesion deficiency, type I		114
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	ITGB3 CL E G H	3690	6156	ORPHA:849	Glanzmann thrombasthenia		80
HP:0001928	HP:0003645	Prolonged partial thromboplastin time	1	KLKB1 CL E G H	3818	6371	OMIM:612423	PREKALLIKREIN DEFICIENCY		8
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1	.
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII		56
HP:0001928	HP:0003645	Prolonged partial thromboplastin time	1	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040281 - Very frequent	56
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	LMAN1 CL E G H	3998	6631	OMIM:227300	Factor V and factor VIII, combined deficiency of		56
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome		239
HP:0001928	HP:0003645	Prolonged partial thromboplastin time	1	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII		77
HP:0001928	HP:0003645	Prolonged partial thromboplastin time	1	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040281 - Very frequent	77
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	MCFD2 CL E G H	90411	18451	OMIM:613625	Factor V and factor VIII, combined deficiency of		77
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa		39
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG		39
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF	HP:0040283 - Occasional	32
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib		51
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG	HP:0040281 - Very frequent	51
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia		81
HP:0001928	HP:0100724	Hypercoagulability	1	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040282 - Frequent	9
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	NBAS CL E G H	51594	15625	OMIM:616483	INFANTILE LIVER FAILURE SYNDROME 2; ILFS2		25
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	NBEAL2 CL E G H	23218	31928	OMIM:139090	Gray platelet syndrome		127
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome		32
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia		12
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.	73
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to		369
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0001928	HP:0003645	Prolonged partial thromboplastin time	1	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia		11
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included		11
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia		3
HP:0001928	HP:0003645	Prolonged partial thromboplastin time	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.	150
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	58
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia		134
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive		65
HP:0001928	HP:0100724	Hypercoagulability	1	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive	.	65
HP:0001928	HP:0100724	Hypercoagulability	1	PROC CL E G H	5624	9451	OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant	.	65
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	PROC CL E G H	5624	9451	OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant		65
HP:0001928	HP:0100724	Hypercoagulability	1	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive	.	75
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive		75
HP:0001928	HP:0100724	Hypercoagulability	1	PROS1 CL E G H	5627	9456	OMIM:612336	Thrombophilia, hereditary, due to protein S deficiency, autosomal	.	75
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	PROS1 CL E G H	5627	9456	OMIM:612336	Thrombophilia, hereditary, due to protein S deficiency, autosomal		75
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia		2
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN	.	92
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3		99
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040283 - Occasional	1200
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040283 - Occasional	1200
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	RYR1 CL E G H	6261	10483	OMIM:145600	Malignant hyperthermia, susceptibility to, 1	.	1200
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	SERAC1 CL E G H	84947	21061	OMIM:614739	3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome	.	47
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	SERPINC1 CL E G H	462	775	OMIM:613118	Antithrombin III deficiency		88
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency		88
HP:0001928	HP:0040224	Abnormality of fibrinolysis	1	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency		39
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency		39
HP:0001928	HP:0040224	Abnormality of fibrinolysis	1	SERPINF2 CL E G H	5345	9075	ORPHA:79	Congenital alpha2-antiplasmin deficiency		8
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency		82
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040283 - Occasional	88
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome		42
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0001928	HP:0003645	Prolonged partial thromboplastin time	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib		110
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis		109
HP:0001928	HP:0100724	Hypercoagulability	1	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	109
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0001928	HP:0003645	Prolonged partial thromboplastin time	1	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9		30
HP:0001928	HP:0100724	Hypercoagulability	1	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	228
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis		228
HP:0001928	HP:0100724	Hypercoagulability	1	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	156
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis		156
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ		80
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG		80
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG	HP:0040284 - Very rare	12
HP:0001928	HP:0040224	Abnormality of fibrinolysis	1	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3		9
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia		110
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia		12
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	85
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	70
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia		22
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	.	1
HP:0001928	HP:0100724	Hypercoagulability	1	THBD CL E G H	7056	11784	OMIM:614486	Thrombophilia due to thrombomodulin defect	.	60
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient	.	101
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	116
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	VKORC1 CL E G H	79001	23663	OMIM:607473	Vitamin K-dependent clotting factors, combined deficiency of, 2		25
HP:0001928	HP:0003645	Prolonged partial thromboplastin time	1	VPS33B CL E G H	26276	12712	OMIM:620010			63
HP:0001928	HP:0005542	Prolonged whole-blood clotting time	1	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1	.	533
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1		533
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	VWF CL E G H	7450	12726	OMIM:277480	Von willebrand disease, type 3		533
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2		81
HP:0001928	HP:0003256	Abnormality of the coagulation cascade	1	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia		1
HP:0001928	HP:0040236	Hyperfibrinolysis	2	CL E G H
HP:0001928	HP:0040243	Prolonged euglobulin clot lysis time	2	CL E G H
HP:0001928	HP:0012200	Abnormality of prothrombin	2	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency		98
HP:0001928	HP:0012200	Abnormality of prothrombin	2	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency		26
HP:0001928	HP:0012200	Abnormality of prothrombin	2	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA		76
HP:0001928	HP:0012200	Abnormality of prothrombin	2	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency		31
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency		31
HP:0001928	HP:0010988	Abnormality of the extrinsic pathway	2	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency		31
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency		31
HP:0001928	HP:0012200	Abnormality of prothrombin	2	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0001928	HP:0030780	Abnormality of the protein C anticoagulant pathway	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0001928	HP:0012200	Abnormality of prothrombin	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii		46
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG		66
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG		66
HP:0001928	HP:0030780	Abnormality of the protein C anticoagulant pathway	2	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG		66
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	ALG6 CL E G H	29929	23157	OMIM:603147	Congenital disorder of glycosylation, type Ic		66
HP:0001928	HP:0010988	Abnormality of the extrinsic pathway	2	ALG6 CL E G H	29929	23157	OMIM:603147	Congenital disorder of glycosylation, type Ic		66
HP:0001928	HP:0010988	Abnormality of the extrinsic pathway	2	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG		46
HP:0001928	HP:0030780	Abnormality of the protein C anticoagulant pathway	2	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG		46
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG		46
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0001928	HP:0010988	Abnormality of the extrinsic pathway	2	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis		150
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	ANO6 CL E G H	196527	25240	OMIM:262890	Scott syndrome		12
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040283 - Occasional	140
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040283 - Occasional	140
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040283 - Occasional	3
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040283 - Occasional	2
HP:0001928	HP:0010988	Abnormality of the extrinsic pathway	2	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0001928	HP:0030780	Abnormality of the protein C anticoagulant pathway	2	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia		101
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1		276
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome		39
HP:0001928	HP:0012200	Abnormality of prothrombin	2	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome		39
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome		86
HP:0001928	HP:0012200	Abnormality of prothrombin	2	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome		86
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome		57
HP:0001928	HP:0012200	Abnormality of prothrombin	2	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome		57
HP:0001928	HP:0012200	Abnormality of prothrombin	2	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0001928	HP:0012200	Abnormality of prothrombin	2	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG		39
HP:0001928	HP:0012200	Abnormality of prothrombin	2	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3		57
HP:0001928	HP:0010988	Abnormality of the extrinsic pathway	2	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij		38
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij		38
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG		38
HP:0001928	HP:0010988	Abnormality of the extrinsic pathway	2	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG		38
HP:0001928	HP:0030780	Abnormality of the protein C anticoagulant pathway	2	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG		38
HP:0001928	HP:0010988	Abnormality of the extrinsic pathway	2	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE		27
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE		27
HP:0001928	HP:0030780	Abnormality of the protein C anticoagulant pathway	2	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE		27
HP:0001928	HP:0030780	Abnormality of the protein C anticoagulant pathway	2	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG		27
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG		27
HP:0001928	HP:0010988	Abnormality of the extrinsic pathway	2	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG		27
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy		26
HP:0001928	HP:0010988	Abnormality of the extrinsic pathway	2	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy		26
HP:0001928	HP:0012200	Abnormality of prothrombin	2	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2		1
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis		51
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	F10 CL E G H	2159	3528	ORPHA:328	Congenital factor X deficiency		33
HP:0001928	HP:0012200	Abnormality of prothrombin	2	F10 CL E G H	2159	3528	ORPHA:328	Congenital factor X deficiency		33
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	F10 CL E G H	2159	3528	OMIM:227600	Factor X deficiency		33
HP:0001928	HP:0012200	Abnormality of prothrombin	2	F10 CL E G H	2159	3528	OMIM:227600	Factor X deficiency		33
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	F11 CL E G H	2160	3529	ORPHA:329	Congenital factor XI deficiency	HP:0040281 - Very frequent	132
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	F11 CL E G H	2160	3529	OMIM:612416	Factor XI deficiency		132
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	F12 CL E G H	2161	3530	ORPHA:330	Congenital factor XII deficiency		28
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	F12 CL E G H	2161	3530	OMIM:234000	Factor XII deficiency		28
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency		60
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	F13A1 CL E G H	2162	3531	OMIM:613225	Factor XIII, A subunit, deficiency of		60
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency		32
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	F13B CL E G H	2165	3534	OMIM:613235	Factor XIIIB deficiency		32
HP:0001928	HP:0012200	Abnormality of prothrombin	2	F2 CL E G H	2147	3535	ORPHA:325	Congenital factor II deficiency		44
HP:0001928	HP:0012200	Abnormality of prothrombin	2	F2 CL E G H	2147	3535	OMIM:613679	Congenital prothrombin deficiency		44
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	F5 CL E G H	2153	3542	OMIM:227400	Factor V deficiency		159
HP:0001928	HP:0012200	Abnormality of prothrombin	2	F5 CL E G H	2153	3542	OMIM:227400	Factor V deficiency		159
HP:0001928	HP:0030780	Abnormality of the protein C anticoagulant pathway	2	F5 CL E G H	2153	3542	OMIM:188055	Thrombophilia due to deficiency of activated protein C cofactor		159
HP:0001928	HP:0012200	Abnormality of prothrombin	2	F7 CL E G H	2155	3544	ORPHA:327	Congenital factor VII deficiency		70
HP:0001928	HP:0010988	Abnormality of the extrinsic pathway	2	F7 CL E G H	2155	3544	OMIM:227500	Factor VII deficiency		70
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	F8 CL E G H	2157	3546	ORPHA:177926	Bleeding disorder in hemophilia A carriers without FVIII deficiency		303
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	F8 CL E G H	2157	3546	OMIM:306700	Hemophilia A		303
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A		303
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A		303
HP:0001928	HP:0012146	Abnormality of von Willebrand factor	2	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A		303
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	F8 CL E G H	2157	3546	OMIM:301071	THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT; THPH13		303
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	F9 CL E G H	2158	3551	OMIM:306900	Hemophilia B		143
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	F9 CL E G H	2158	3551	OMIM:300807	THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT; THPH8		143
HP:0001928	HP:0012200	Abnormality of prothrombin	2	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	FGA CL E G H	2243	3661	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		47
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	FGB CL E G H	2244	3662	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		62
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	FGG CL E G H	2266	3694	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		34
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia		4
HP:0001928	HP:0012200	Abnormality of prothrombin	2	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17		3
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	GGCX CL E G H	2677	4247	OMIM:610842	PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY		129
HP:0001928	HP:0012200	Abnormality of prothrombin	2	GGCX CL E G H	2677	4247	OMIM:610842	PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY		129
HP:0001928	HP:0010988	Abnormality of the extrinsic pathway	2	GGCX CL E G H	2677	4247	OMIM:610842	PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY		129
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	GGCX CL E G H	2677	4247	OMIM:610842	PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY		129
HP:0001928	HP:0030780	Abnormality of the protein C anticoagulant pathway	2	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0001928	HP:0010988	Abnormality of the extrinsic pathway	2	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0001928	HP:0012200	Abnormality of prothrombin	2	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma	HP:0040283 - Occasional
HP:0001928	HP:0012200	Abnormality of prothrombin	2	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria		173
HP:0001928	HP:0012146	Abnormality of von Willebrand factor	2	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome		23
HP:0001928	HP:0012146	Abnormality of von Willebrand factor	2	GP1BA CL E G H	2811	4439	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		23
HP:0001928	HP:0012146	Abnormality of von Willebrand factor	2	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome		8
HP:0001928	HP:0012146	Abnormality of von Willebrand factor	2	GP1BB CL E G H	2812	4440	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		8
HP:0001928	HP:0012146	Abnormality of von Willebrand factor	2	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome		21
HP:0001928	HP:0012146	Abnormality of von Willebrand factor	2	GP9 CL E G H	2815	4444	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		21
HP:0001928	HP:0012200	Abnormality of prothrombin	2	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0001928	HP:0012200	Abnormality of prothrombin	2	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency		41
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome
HP:0001928	HP:0012200	Abnormality of prothrombin	2	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome
HP:0001928	HP:0012200	Abnormality of prothrombin	2	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0001928	HP:0012200	Abnormality of prothrombin	2	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0001928	HP:0012200	Abnormality of prothrombin	2	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria		35
HP:0001928	HP:0012200	Abnormality of prothrombin	2	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency		35
HP:0001928	HP:0012146	Abnormality of von Willebrand factor	2	IKZF5 CL E G H	64376	14283	OMIM:619130	THROMBOCYTOPENIA 7; THC7
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia		4
HP:0001928	HP:0012146	Abnormality of von Willebrand factor	2	ITGA2B CL E G H	3674	6138	ORPHA:849	Glanzmann thrombasthenia		69
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	ITGB2 CL E G H	3689	6155	OMIM:116920	Leukocyte adhesion deficiency, type I		114
HP:0001928	HP:0012146	Abnormality of von Willebrand factor	2	ITGB3 CL E G H	3690	6156	ORPHA:849	Glanzmann thrombasthenia		80
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII		56
HP:0001928	HP:0012200	Abnormality of prothrombin	2	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII		56
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII		56
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	LMAN1 CL E G H	3998	6631	OMIM:227300	Factor V and factor VIII, combined deficiency of		56
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	LMAN1 CL E G H	3998	6631	OMIM:227300	Factor V and factor VIII, combined deficiency of		56
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome		239
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1		134
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII		77
HP:0001928	HP:0012200	Abnormality of prothrombin	2	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII		77
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII		77
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	MCFD2 CL E G H	90411	18451	OMIM:613625	Factor V and factor VIII, combined deficiency of		77
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	MCFD2 CL E G H	90411	18451	OMIM:613625	Factor V and factor VIII, combined deficiency of		77
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001928	HP:0010988	Abnormality of the extrinsic pathway	2	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa		39
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa		39
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG		39
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional	39
HP:0001928	HP:0012200	Abnormality of prothrombin	2	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib		51
HP:0001928	HP:0010988	Abnormality of the extrinsic pathway	2	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib		51
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG		51
HP:0001928	HP:0030780	Abnormality of the protein C anticoagulant pathway	2	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG		51
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG		51
HP:0001928	HP:0012200	Abnormality of prothrombin	2	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0001928	HP:0012200	Abnormality of prothrombin	2	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia		81
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0001928	HP:0012200	Abnormality of prothrombin	2	NBAS CL E G H	51594	15625	OMIM:616483	INFANTILE LIVER FAILURE SYNDROME 2; ILFS2		25
HP:0001928	HP:0012146	Abnormality of von Willebrand factor	2	NBEAL2 CL E G H	23218	31928	OMIM:139090	Gray platelet syndrome		127
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome		32
HP:0001928	HP:0030780	Abnormality of the protein C anticoagulant pathway	2	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome		32
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome		32
HP:0001928	HP:0012200	Abnormality of prothrombin	2	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome		32
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia		12
HP:0001928	HP:0012200	Abnormality of prothrombin	2	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0001928	HP:0012200	Abnormality of prothrombin	2	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to		369
HP:0001928	HP:0012200	Abnormality of prothrombin	2	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0001928	HP:0010988	Abnormality of the extrinsic pathway	2	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0001928	HP:0012200	Abnormality of prothrombin	2	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia		11
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included		11
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia		3
HP:0001928	HP:0010988	Abnormality of the extrinsic pathway	2	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0001928	HP:0012200	Abnormality of prothrombin	2	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0001928	HP:0010988	Abnormality of the extrinsic pathway	2	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		58
HP:0001928	HP:0012200	Abnormality of prothrombin	2	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia		134
HP:0001928	HP:0030780	Abnormality of the protein C anticoagulant pathway	2	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive		65
HP:0001928	HP:0030780	Abnormality of the protein C anticoagulant pathway	2	PROC CL E G H	5624	9451	OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant		65
HP:0001928	HP:0030780	Abnormality of the protein C anticoagulant pathway	2	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive		75
HP:0001928	HP:0030780	Abnormality of the protein C anticoagulant pathway	2	PROS1 CL E G H	5627	9456	OMIM:612336	Thrombophilia, hereditary, due to protein S deficiency, autosomal		75
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1		291
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia		2
HP:0001928	HP:0012200	Abnormality of prothrombin	2	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3		99
HP:0001928	HP:0012200	Abnormality of prothrombin	2	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	SERPINC1 CL E G H	462	775	OMIM:613118	Antithrombin III deficiency		88
HP:0001928	HP:0010988	Abnormality of the extrinsic pathway	2	SERPINC1 CL E G H	462	775	OMIM:613118	Antithrombin III deficiency		88
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency		88
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency		88
HP:0001928	HP:0010988	Abnormality of the extrinsic pathway	2	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency		88
HP:0001928	HP:0040249	Reduced plasminogen activator inhibitor 1 antigen	2	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency	HP:0040281 - Very frequent	39
HP:0001928	HP:0040248	Reduced plasminogen activator inhibitor 1 activity	2	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency	HP:0040281 - Very frequent	39
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency		39
HP:0001928	HP:0040247	Reduced euglobulin clot lysis time	2	SERPINF2 CL E G H	5345	9075	ORPHA:79	Congenital alpha2-antiplasmin deficiency	HP:0040282 - Frequent	8
HP:0001928	HP:0012200	Abnormality of prothrombin	2	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency		82
HP:0001928	HP:0012200	Abnormality of prothrombin	2	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome		42
HP:0001928	HP:0012200	Abnormality of prothrombin	2	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0001928	HP:0010988	Abnormality of the extrinsic pathway	2	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0001928	HP:0012146	Abnormality of von Willebrand factor	2	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040283 - Occasional	110
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis		109
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0001928	HP:0012200	Abnormality of prothrombin	2	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9		30
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis		228
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis		156
HP:0001928	HP:0010988	Abnormality of the extrinsic pathway	2	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ		80
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ		80
HP:0001928	HP:0010988	Abnormality of the extrinsic pathway	2	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG		80
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG		80
HP:0001928	HP:0033106	Elevated circulating D-dimer concentration	2	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3		9
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia		110
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia		12
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		85
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		70
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia		22
HP:0001928	HP:0012200	Abnormality of prothrombin	2	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0001928	HP:0012200	Abnormality of prothrombin	2	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient		101
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		116
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0001928	HP:0010988	Abnormality of the extrinsic pathway	2	VKORC1 CL E G H	79001	23663	OMIM:607473	Vitamin K-dependent clotting factors, combined deficiency of, 2		25
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	VKORC1 CL E G H	79001	23663	OMIM:607473	Vitamin K-dependent clotting factors, combined deficiency of, 2		25
HP:0001928	HP:0012200	Abnormality of prothrombin	2	VKORC1 CL E G H	79001	23663	OMIM:607473	Vitamin K-dependent clotting factors, combined deficiency of, 2		25
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	VKORC1 CL E G H	79001	23663	OMIM:607473	Vitamin K-dependent clotting factors, combined deficiency of, 2		25
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1		533
HP:0001928	HP:0012146	Abnormality of von Willebrand factor	2	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1		533
HP:0001928	HP:0010989	Abnormality of the intrinsic pathway	2	VWF CL E G H	7450	12726	OMIM:277480	Von willebrand disease, type 3		533
HP:0001928	HP:0012146	Abnormality of von Willebrand factor	2	VWF CL E G H	7450	12726	OMIM:277480	Von willebrand disease, type 3		533
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2		81
HP:0001928	HP:0010990	Abnormality of the common coagulation pathway	2	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia		1
HP:0001928	HP:0030136	Enhanced ristocetin cofactor assay activity	3	CL E G H
HP:0001928	HP:0030129	Impaired ristocetin cofactor assay activity	3	CL E G H
HP:0001928	HP:0040229	Decreased level of thrombomodulin	3	CL E G H
HP:0001928	HP:0040244	Prolonged Russell's viper venom time	3	CL E G H
HP:0001928	HP:0040227	Decreased level of histidine-rich glycoprotein	3	CL E G H
HP:0001928	HP:0040226	Decreased level of heparin co-factor II	3	CL E G H
HP:0001928	HP:0005527	Reduced kininogen activity	3	CL E G H
HP:0001928	HP:0040240	Increased ratio of VWF propeptide to VWF antigen	3	CL E G H
HP:0001928	HP:0040239	Increased plasma vitamin K epoxide after vitamin K supplementation	3	CL E G H
HP:0001928	HP:0030131	Abnormal von Willebrand factor multimer distribution	3	CL E G H
HP:0001928	HP:0040237	Impaired binding of factor VIII to VWF	3	CL E G H
HP:0001928	HP:0030130	Impaired von Willibrand factor collagen binding activity	3	CL E G H
HP:0001928	HP:0032199	Abnormal prothrombin time	3	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency		98
HP:0001928	HP:0032199	Abnormal prothrombin time	3	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency		26
HP:0001928	HP:0032199	Abnormal prothrombin time	3	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA		76
HP:0001928	HP:0001976	Reduced antithrombin III activity	3	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040282 - Frequent	31
HP:0001928	HP:0032199	Abnormal prothrombin time	3	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency		31
HP:0001928	HP:0008169	Reduced factor VII activity	3	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040282 - Frequent	31
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency		31
HP:0001928	HP:0031899	Abnormal coagulation factor V activity	3	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency		31
HP:0001928	HP:0032199	Abnormal prothrombin time	3	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0001928	HP:0004855	Reduced protein S activity	3	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040282 - Frequent	68
HP:0001928	HP:0001929	Reduced factor XI activity	3	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040282 - Frequent	68
HP:0001928	HP:0040246	Reduced antithrombin antigen	3	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040282 - Frequent	68
HP:0001928	HP:0005543	Reduced protein C activity	3	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040282 - Frequent	68
HP:0001928	HP:0032199	Abnormal prothrombin time	3	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0001928	HP:0001929	Reduced factor XI activity	3	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii		46
HP:0001928	HP:0040246	Reduced antithrombin antigen	3	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040283 - Occasional	66
HP:0001928	HP:0004855	Reduced protein S activity	3	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040283 - Occasional	66
HP:0001928	HP:0001929	Reduced factor XI activity	3	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040283 - Occasional	66
HP:0001928	HP:0005543	Reduced protein C activity	3	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040283 - Occasional	66
HP:0001928	HP:0001929	Reduced factor XI activity	3	ALG6 CL E G H	29929	23157	OMIM:603147	Congenital disorder of glycosylation, type Ic	.	66
HP:0001928	HP:0001976	Reduced antithrombin III activity	3	ALG6 CL E G H	29929	23157	OMIM:603147	Congenital disorder of glycosylation, type Ic	.	66
HP:0001928	HP:0001976	Reduced antithrombin III activity	3	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional	46
HP:0001928	HP:0005543	Reduced protein C activity	3	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional	46
HP:0001928	HP:0001929	Reduced factor XI activity	3	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional	46
HP:0001928	HP:0001929	Reduced factor XI activity	3	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0001928	HP:0001976	Reduced antithrombin III activity	3	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih		46
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis		150
HP:0001928	HP:0008321	Reduced factor X activity	3	ANO6 CL E G H	196527	25240	OMIM:262890	Scott syndrome		12
HP:0001928	HP:0001976	Reduced antithrombin III activity	3	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0001928	HP:0005543	Reduced protein C activity	3	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0001928	HP:0004855	Reduced protein S activity	3	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia		101
HP:0001928	HP:0004841	Reduced factor XII activity	3	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1	.	276
HP:0001928	HP:0008357	Reduced factor XIII activity	3	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1	.	276
HP:0001928	HP:0032199	Abnormal prothrombin time	3	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome		39
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome		39
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome		86
HP:0001928	HP:0032199	Abnormal prothrombin time	3	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome		86
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome		57
HP:0001928	HP:0032199	Abnormal prothrombin time	3	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome		57
HP:0001928	HP:0032199	Abnormal prothrombin time	3	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0001928	HP:0032199	Abnormal prothrombin time	3	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG		39
HP:0001928	HP:0032199	Abnormal prothrombin time	3	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3		57
HP:0001928	HP:0001976	Reduced antithrombin III activity	3	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij	HP:0040283 - Occasional	38
HP:0001928	HP:0001976	Reduced antithrombin III activity	3	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional	38
HP:0001928	HP:0004855	Reduced protein S activity	3	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional	38
HP:0001928	HP:0005543	Reduced protein C activity	3	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.	27
HP:0001928	HP:0004855	Reduced protein S activity	3	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.	27
HP:0001928	HP:0001976	Reduced antithrombin III activity	3	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.	27
HP:0001928	HP:0001976	Reduced antithrombin III activity	3	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040282 - Frequent	27
HP:0001928	HP:0005543	Reduced protein C activity	3	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040282 - Frequent	27
HP:0001928	HP:0004855	Reduced protein S activity	3	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040282 - Frequent	27
HP:0001928	HP:0001976	Reduced antithrombin III activity	3	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040283 - Occasional	26
HP:0001928	HP:0032199	Abnormal prothrombin time	3	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2		1
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis		51
HP:0001928	HP:0032199	Abnormal prothrombin time	3	F10 CL E G H	2159	3528	ORPHA:328	Congenital factor X deficiency		33
HP:0001928	HP:0008321	Reduced factor X activity	3	F10 CL E G H	2159	3528	ORPHA:328	Congenital factor X deficiency	HP:0040280 - Obligate	33
HP:0001928	HP:0008321	Reduced factor X activity	3	F10 CL E G H	2159	3528	OMIM:227600	Factor X deficiency	.	33
HP:0001928	HP:0032199	Abnormal prothrombin time	3	F10 CL E G H	2159	3528	OMIM:227600	Factor X deficiency		33
HP:0001928	HP:0001929	Reduced factor XI activity	3	F11 CL E G H	2160	3529	ORPHA:329	Congenital factor XI deficiency	HP:0040281 - Very frequent	132
HP:0001928	HP:0001929	Reduced factor XI activity	3	F11 CL E G H	2160	3529	OMIM:612416	Factor XI deficiency	.	132
HP:0001928	HP:0004841	Reduced factor XII activity	3	F12 CL E G H	2161	3530	ORPHA:330	Congenital factor XII deficiency	HP:0040281 - Very frequent	28
HP:0001928	HP:0004841	Reduced factor XII activity	3	F12 CL E G H	2161	3530	OMIM:234000	Factor XII deficiency	.	28
HP:0001928	HP:0008357	Reduced factor XIII activity	3	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency	HP:0040281 - Very frequent	60
HP:0001928	HP:0008357	Reduced factor XIII activity	3	F13A1 CL E G H	2162	3531	OMIM:613225	Factor XIII, A subunit, deficiency of	.	60
HP:0001928	HP:0008357	Reduced factor XIII activity	3	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency	HP:0040281 - Very frequent	32
HP:0001928	HP:0008357	Reduced factor XIII activity	3	F13B CL E G H	2165	3534	OMIM:613235	Factor XIIIB deficiency	.	32
HP:0001928	HP:0032199	Abnormal prothrombin time	3	F2 CL E G H	2147	3535	ORPHA:325	Congenital factor II deficiency		44
HP:0001928	HP:0040250	Reduced prothrombin antigen	3	F2 CL E G H	2147	3535	ORPHA:325	Congenital factor II deficiency	HP:0040281 - Very frequent	44
HP:0001928	HP:0032199	Abnormal prothrombin time	3	F2 CL E G H	2147	3535	OMIM:613679	Congenital prothrombin deficiency		44
HP:0001928	HP:0032199	Abnormal prothrombin time	3	F5 CL E G H	2153	3542	OMIM:227400	Factor V deficiency		159
HP:0001928	HP:0031899	Abnormal coagulation factor V activity	3	F5 CL E G H	2153	3542	OMIM:227400	Factor V deficiency		159
HP:0001928	HP:0012175	Resistance to activated protein C	3	F5 CL E G H	2153	3542	OMIM:188055	Thrombophilia due to deficiency of activated protein C cofactor	.	159
HP:0001928	HP:0032199	Abnormal prothrombin time	3	F7 CL E G H	2155	3544	ORPHA:327	Congenital factor VII deficiency		70
HP:0001928	HP:0008169	Reduced factor VII activity	3	F7 CL E G H	2155	3544	OMIM:227500	Factor VII deficiency	.	70
HP:0001928	HP:0030976	Abnormal factor VIII activity	3	F8 CL E G H	2157	3546	ORPHA:177926	Bleeding disorder in hemophilia A carriers without FVIII deficiency		303
HP:0001928	HP:0030976	Abnormal factor VIII activity	3	F8 CL E G H	2157	3546	OMIM:306700	Hemophilia A		303
HP:0001928	HP:0030976	Abnormal factor VIII activity	3	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A		303
HP:0001928	HP:0008330	Reduced von Willebrand factor activity	3	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A	HP:0040283 - Occasional	303
HP:0001928	HP:0030976	Abnormal factor VIII activity	3	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A		303
HP:0001928	HP:0030976	Abnormal factor VIII activity	3	F8 CL E G H	2157	3546	OMIM:301071	THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT; THPH13		303
HP:0001928	HP:0033062	Abnormal factor IX activity	3	F9 CL E G H	2158	3551	OMIM:306900	Hemophilia B		143
HP:0001928	HP:0033062	Abnormal factor IX activity	3	F9 CL E G H	2158	3551	OMIM:300807	THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT; THPH8		143
HP:0001928	HP:0032199	Abnormal prothrombin time	3	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	FGA CL E G H	2243	3661	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		47
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	FGB CL E G H	2244	3662	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		62
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	FGG CL E G H	2266	3694	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		34
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia		4
HP:0001928	HP:0003337	Reduced prothrombin consumption	3	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17	.	3
HP:0001928	HP:0033062	Abnormal factor IX activity	3	GGCX CL E G H	2677	4247	OMIM:610842	PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY		129
HP:0001928	HP:0032199	Abnormal prothrombin time	3	GGCX CL E G H	2677	4247	OMIM:610842	PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY		129
HP:0001928	HP:0008169	Reduced factor VII activity	3	GGCX CL E G H	2677	4247	OMIM:610842	PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY		129
HP:0001928	HP:0008321	Reduced factor X activity	3	GGCX CL E G H	2677	4247	OMIM:610842	PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY		129
HP:0001928	HP:0032199	Abnormal prothrombin time	3	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0001928	HP:0005543	Reduced protein C activity	3	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0001928	HP:0004855	Reduced protein S activity	3	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0001928	HP:0033062	Abnormal factor IX activity	3	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0001928	HP:0008169	Reduced factor VII activity	3	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0001928	HP:0008321	Reduced factor X activity	3	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma
HP:0001928	HP:0032199	Abnormal prothrombin time	3	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria		173
HP:0001928	HP:0011871	Impaired ristocetin-induced platelet aggregation	3	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome	HP:0040280 - Obligate	23
HP:0001928	HP:0011871	Impaired ristocetin-induced platelet aggregation	3	GP1BA CL E G H	2811	4439	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		23
HP:0001928	HP:0011871	Impaired ristocetin-induced platelet aggregation	3	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome	HP:0040280 - Obligate	8
HP:0001928	HP:0011871	Impaired ristocetin-induced platelet aggregation	3	GP1BB CL E G H	2812	4440	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		8
HP:0001928	HP:0011871	Impaired ristocetin-induced platelet aggregation	3	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome	HP:0040280 - Obligate	21
HP:0001928	HP:0011871	Impaired ristocetin-induced platelet aggregation	3	GP9 CL E G H	2815	4444	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		21
HP:0001928	HP:0032199	Abnormal prothrombin time	3	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis		2
HP:0001928	HP:0032199	Abnormal prothrombin time	3	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency		41
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
HP:0001928	HP:0032199	Abnormal prothrombin time	3	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome
HP:0001928	HP:0032199	Abnormal prothrombin time	3	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0001928	HP:0032199	Abnormal prothrombin time	3	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0001928	HP:0032199	Abnormal prothrombin time	3	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria		35
HP:0001928	HP:0032199	Abnormal prothrombin time	3	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency		35
HP:0001928	HP:0011871	Impaired ristocetin-induced platelet aggregation	3	IKZF5 CL E G H	64376	14283	OMIM:619130	THROMBOCYTOPENIA 7; THC7
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia		4
HP:0001928	HP:0011871	Impaired ristocetin-induced platelet aggregation	3	ITGA2B CL E G H	3674	6138	ORPHA:849	Glanzmann thrombasthenia	HP:0040284 - Very rare	69
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	ITGB2 CL E G H	3689	6155	OMIM:116920	Leukocyte adhesion deficiency, type I		114
HP:0001928	HP:0011871	Impaired ristocetin-induced platelet aggregation	3	ITGB3 CL E G H	3690	6156	ORPHA:849	Glanzmann thrombasthenia	HP:0040284 - Very rare	80
HP:0001928	HP:0031899	Abnormal coagulation factor V activity	3	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII		56
HP:0001928	HP:0030976	Abnormal factor VIII activity	3	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII		56
HP:0001928	HP:0032199	Abnormal prothrombin time	3	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII		56
HP:0001928	HP:0030976	Abnormal factor VIII activity	3	LMAN1 CL E G H	3998	6631	OMIM:227300	Factor V and factor VIII, combined deficiency of		56
HP:0001928	HP:0031899	Abnormal coagulation factor V activity	3	LMAN1 CL E G H	3998	6631	OMIM:227300	Factor V and factor VIII, combined deficiency of		56
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome		239
HP:0001928	HP:0001929	Reduced factor XI activity	3	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0001928	HP:0008357	Reduced factor XIII activity	3	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1	.	134
HP:0001928	HP:0004841	Reduced factor XII activity	3	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1	.	134
HP:0001928	HP:0031899	Abnormal coagulation factor V activity	3	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII		77
HP:0001928	HP:0032199	Abnormal prothrombin time	3	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII		77
HP:0001928	HP:0030976	Abnormal factor VIII activity	3	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII		77
HP:0001928	HP:0030976	Abnormal factor VIII activity	3	MCFD2 CL E G H	90411	18451	OMIM:613625	Factor V and factor VIII, combined deficiency of		77
HP:0001928	HP:0031899	Abnormal coagulation factor V activity	3	MCFD2 CL E G H	90411	18451	OMIM:613625	Factor V and factor VIII, combined deficiency of		77
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001928	HP:0001976	Reduced antithrombin III activity	3	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.	39
HP:0001928	HP:0001929	Reduced factor XI activity	3	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa		39
HP:0001928	HP:0004841	Reduced factor XII activity	3	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa		39
HP:0001928	HP:0033062	Abnormal factor IX activity	3	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa		39
HP:0001928	HP:0001929	Reduced factor XI activity	3	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional	39
HP:0001928	HP:0032199	Abnormal prothrombin time	3	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0001928	HP:0001976	Reduced antithrombin III activity	3	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib	.	51
HP:0001928	HP:0001929	Reduced factor XI activity	3	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib	.	51
HP:0001928	HP:0005543	Reduced protein C activity	3	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG	HP:0040282 - Frequent	51
HP:0001928	HP:0004855	Reduced protein S activity	3	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG	HP:0040282 - Frequent	51
HP:0001928	HP:0040246	Reduced antithrombin antigen	3	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG	HP:0040281 - Very frequent	51
HP:0001928	HP:0001929	Reduced factor XI activity	3	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG	HP:0040282 - Frequent	51
HP:0001928	HP:0032199	Abnormal prothrombin time	3	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis		1
HP:0001928	HP:0032199	Abnormal prothrombin time	3	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia		81
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia
HP:0001928	HP:0032199	Abnormal prothrombin time	3	NBAS CL E G H	51594	15625	OMIM:616483	INFANTILE LIVER FAILURE SYNDROME 2; ILFS2		25
HP:0001928	HP:0012147	Reduced quantity of Von Willebrand factor	3	NBEAL2 CL E G H	23218	31928	OMIM:139090	Gray platelet syndrome	.	127
HP:0001928	HP:0008330	Reduced von Willebrand factor activity	3	NBEAL2 CL E G H	23218	31928	OMIM:139090	Gray platelet syndrome	.	127
HP:0001928	HP:0032199	Abnormal prothrombin time	3	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome		32
HP:0001928	HP:0005543	Reduced protein C activity	3	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional	32
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome		32
HP:0001928	HP:0001929	Reduced factor XI activity	3	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional	32
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia		12
HP:0001928	HP:0032199	Abnormal prothrombin time	3	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia
HP:0001928	HP:0032199	Abnormal prothrombin time	3	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to		369
HP:0001928	HP:0032199	Abnormal prothrombin time	3	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0001928	HP:0001976	Reduced antithrombin III activity	3	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It	HP:0040283 - Occasional	58
HP:0001928	HP:0032199	Abnormal prothrombin time	3	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0001928	HP:0040228	Decreased level of plasminogen	3	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia	HP:0040281 - Very frequent	11
HP:0001928	HP:0040228	Decreased level of plasminogen	3	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included		11
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia		3
HP:0001928	HP:0001929	Reduced factor XI activity	3	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.	150
HP:0001928	HP:0001976	Reduced antithrombin III activity	3	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.	150
HP:0001928	HP:0032199	Abnormal prothrombin time	3	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0001928	HP:0033062	Abnormal factor IX activity	3	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0001928	HP:0001976	Reduced antithrombin III activity	3	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional	150
HP:0001928	HP:0001929	Reduced factor XI activity	3	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional	150
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		58
HP:0001928	HP:0032199	Abnormal prothrombin time	3	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia		134
HP:0001928	HP:0005543	Reduced protein C activity	3	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive	.	65
HP:0001928	HP:0005543	Reduced protein C activity	3	PROC CL E G H	5624	9451	OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant	.	65
HP:0001928	HP:0004855	Reduced protein S activity	3	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive	.	75
HP:0001928	HP:0004855	Reduced protein S activity	3	PROS1 CL E G H	5627	9456	OMIM:612336	Thrombophilia, hereditary, due to protein S deficiency, autosomal	.	75
HP:0001928	HP:0004841	Reduced factor XII activity	3	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1	.	291
HP:0001928	HP:0008357	Reduced factor XIII activity	3	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1	.	291
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia		2
HP:0001928	HP:0032199	Abnormal prothrombin time	3	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3		99
HP:0001928	HP:0032199	Abnormal prothrombin time	3	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0001928	HP:0001976	Reduced antithrombin III activity	3	SERPINC1 CL E G H	462	775	OMIM:613118	Antithrombin III deficiency	.	88
HP:0001928	HP:0001976	Reduced antithrombin III activity	3	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040281 - Very frequent	88
HP:0001928	HP:0040246	Reduced antithrombin antigen	3	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040281 - Very frequent	88
HP:0001928	HP:0040228	Decreased level of plasminogen	3	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency	HP:0040281 - Very frequent	39
HP:0001928	HP:0040245	Reduced alpha-2-antiplasmin activity	3	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency	HP:0040281 - Very frequent	39
HP:0001928	HP:0040230	Decreased level of tissue plasminogen activator	3	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency	HP:0040281 - Very frequent	39
HP:0001928	HP:0032199	Abnormal prothrombin time	3	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency		82
HP:0001928	HP:0032199	Abnormal prothrombin time	3	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome		42
HP:0001928	HP:0033062	Abnormal factor IX activity	3	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0001928	HP:0004841	Reduced factor XII activity	3	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0001928	HP:0001929	Reduced factor XI activity	3	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0001928	HP:0008357	Reduced factor XIII activity	3	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0001928	HP:0008169	Reduced factor VII activity	3	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0001928	HP:0032199	Abnormal prothrombin time	3	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0001928	HP:0031899	Abnormal coagulation factor V activity	3	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0001928	HP:0001976	Reduced antithrombin III activity	3	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis		109
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0001928	HP:0001929	Reduced factor XI activity	3	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0001928	HP:0030976	Abnormal factor VIII activity	3	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0001928	HP:0032199	Abnormal prothrombin time	3	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9		30
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis		228
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis		156
HP:0001928	HP:0001976	Reduced antithrombin III activity	3	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ	.	80
HP:0001928	HP:0001976	Reduced antithrombin III activity	3	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG	HP:0040283 - Occasional	80
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia		110
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia		12
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		85
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		70
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia		22
HP:0001928	HP:0032199	Abnormal prothrombin time	3	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis		241
HP:0001928	HP:0032199	Abnormal prothrombin time	3	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient		101
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis		116
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0001928	HP:0040250	Reduced prothrombin antigen	3	VKORC1 CL E G H	79001	23663	OMIM:607473	Vitamin K-dependent clotting factors, combined deficiency of, 2		25
HP:0001928	HP:0008169	Reduced factor VII activity	3	VKORC1 CL E G H	79001	23663	OMIM:607473	Vitamin K-dependent clotting factors, combined deficiency of, 2	.	25
HP:0001928	HP:0008321	Reduced factor X activity	3	VKORC1 CL E G H	79001	23663	OMIM:607473	Vitamin K-dependent clotting factors, combined deficiency of, 2	.	25
HP:0001928	HP:0033062	Abnormal factor IX activity	3	VKORC1 CL E G H	79001	23663	OMIM:607473	Vitamin K-dependent clotting factors, combined deficiency of, 2		25
HP:0001928	HP:0030976	Abnormal factor VIII activity	3	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1		533
HP:0001928	HP:0012147	Reduced quantity of Von Willebrand factor	3	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1	.	533
HP:0001928	HP:0008330	Reduced von Willebrand factor activity	3	VWF CL E G H	7450	12726	OMIM:277480	Von willebrand disease, type 3	.	533
HP:0001928	HP:0030976	Abnormal factor VIII activity	3	VWF CL E G H	7450	12726	OMIM:277480	Von willebrand disease, type 3		533
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2		81
HP:0001928	HP:0011898	Abnormality of circulating fibrinogen	3	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia		1
HP:0001928	HP:0030135	Absence of intermediate von Willibrand factor multimers	4	CL E G H
HP:0001928	HP:0030134	Total absence von Willebrand factor multimers	4	CL E G H
HP:0001928	HP:0011901	Dysfibrinogenemia	4	CL E G H
HP:0001928	HP:0030133	Abnormal presence of ultra-large von Willebrand factor multimers	4	CL E G H
HP:0001928	HP:0030132	Absence of large von Willibrand factor multimers	4	CL E G H
HP:0001928	HP:0040225	Decrease in high molecular weight von Willebrand factor Multimers	4	CL E G H
HP:0001928	HP:0034422	Cryofibrinogenemia	4	CL E G H
HP:0001928	HP:0008151	Prolonged prothrombin time	4	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency	HP:0040282 - Frequent	98
HP:0001928	HP:0008151	Prolonged prothrombin time	4	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency		26
HP:0001928	HP:0032198	Decreased prothrombin time	4	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.	76
HP:0001928	HP:0011900	Hypofibrinogenemia	4	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040282 - Frequent	31
HP:0001928	HP:0011996	Elevated coagulation factor V activity	4	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040282 - Frequent	31
HP:0001928	HP:0008151	Prolonged prothrombin time	4	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040282 - Frequent	31
HP:0001928	HP:0008151	Prolonged prothrombin time	4	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2		62
HP:0001928	HP:0008151	Prolonged prothrombin time	4	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040282 - Frequent	68
HP:0001928	HP:0011900	Hypofibrinogenemia	4	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	150
HP:0001928	HP:0008354	Factor X activation deficiency	4	ANO6 CL E G H	196527	25240	OMIM:262890	Scott syndrome	.	12
HP:0001928	HP:0011900	Hypofibrinogenemia	4	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	101
HP:0001928	HP:0011900	Hypofibrinogenemia	4	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent	39
HP:0001928	HP:0008151	Prolonged prothrombin time	4	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent	39
HP:0001928	HP:0011900	Hypofibrinogenemia	4	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent	86
HP:0001928	HP:0008151	Prolonged prothrombin time	4	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent	86
HP:0001928	HP:0008151	Prolonged prothrombin time	4	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent	57
HP:0001928	HP:0011900	Hypofibrinogenemia	4	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent	57
HP:0001928	HP:0008151	Prolonged prothrombin time	4	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0001928	HP:0008151	Prolonged prothrombin time	4	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG	HP:0040283 - Occasional	39
HP:0001928	HP:0008151	Prolonged prothrombin time	4	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3		57
HP:0001928	HP:0008151	Prolonged prothrombin time	4	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2	.	1
HP:0001928	HP:0011900	Hypofibrinogenemia	4	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	51
HP:0001928	HP:0008151	Prolonged prothrombin time	4	F10 CL E G H	2159	3528	ORPHA:328	Congenital factor X deficiency	HP:0040280 - Obligate	33
HP:0001928	HP:0008151	Prolonged prothrombin time	4	F10 CL E G H	2159	3528	OMIM:227600	Factor X deficiency	.	33
HP:0001928	HP:0040233	Factor XIII subunit A deficiency	4	F13A1 CL E G H	2162	3531	OMIM:613225	Factor XIII, A subunit, deficiency of		60
HP:0001928	HP:0040234	Factor XIII subunit B deficiency	4	F13B CL E G H	2165	3534	OMIM:613235	Factor XIIIB deficiency		32
HP:0001928	HP:0008151	Prolonged prothrombin time	4	F2 CL E G H	2147	3535	ORPHA:325	Congenital factor II deficiency	HP:0040281 - Very frequent	44
HP:0001928	HP:0008151	Prolonged prothrombin time	4	F2 CL E G H	2147	3535	OMIM:613679	Congenital prothrombin deficiency	.	44
HP:0001928	HP:0003225	Reduced coagulation factor V activity	4	F5 CL E G H	2153	3542	OMIM:227400	Factor V deficiency	.	159
HP:0001928	HP:0008151	Prolonged prothrombin time	4	F5 CL E G H	2153	3542	OMIM:227400	Factor V deficiency	.	159
HP:0001928	HP:0008151	Prolonged prothrombin time	4	F7 CL E G H	2155	3544	ORPHA:327	Congenital factor VII deficiency	HP:0040282 - Frequent	70
HP:0001928	HP:0003125	Reduced factor VIII activity	4	F8 CL E G H	2157	3546	ORPHA:177926	Bleeding disorder in hemophilia A carriers without FVIII deficiency	HP:0040281 - Very frequent	303
HP:0001928	HP:0003125	Reduced factor VIII activity	4	F8 CL E G H	2157	3546	OMIM:306700	Hemophilia A	.	303
HP:0001928	HP:0003125	Reduced factor VIII activity	4	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A	HP:0040281 - Very frequent	303
HP:0001928	HP:0003125	Reduced factor VIII activity	4	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A	HP:0040281 - Very frequent	303
HP:0001928	HP:0030977	Increased factor VIII activity	4	F8 CL E G H	2157	3546	OMIM:301071	THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT; THPH13		303
HP:0001928	HP:0011858	Reduced factor IX activity	4	F9 CL E G H	2158	3551	OMIM:306900	Hemophilia B	.	143
HP:0001928	HP:0033061	Increased factor IX activity	4	F9 CL E G H	2158	3551	OMIM:300807	THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT; THPH8		143
HP:0001928	HP:0008151	Prolonged prothrombin time	4	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0001928	HP:0034287	Afibrinogenemia	4	FGA CL E G H	2243	3661	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		47
HP:0001928	HP:0011900	Hypofibrinogenemia	4	FGA CL E G H	2243	3661	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included	.	47
HP:0001928	HP:0034287	Afibrinogenemia	4	FGB CL E G H	2244	3662	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		62
HP:0001928	HP:0011900	Hypofibrinogenemia	4	FGB CL E G H	2244	3662	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included	.	62
HP:0001928	HP:0034287	Afibrinogenemia	4	FGG CL E G H	2266	3694	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		34
HP:0001928	HP:0011900	Hypofibrinogenemia	4	FGG CL E G H	2266	3694	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included	.	34
HP:0001928	HP:0011900	Hypofibrinogenemia	4	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	4
HP:0001928	HP:0011858	Reduced factor IX activity	4	GGCX CL E G H	2677	4247	OMIM:610842	PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY		129
HP:0001928	HP:0008151	Prolonged prothrombin time	4	GGCX CL E G H	2677	4247	OMIM:610842	PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY		129
HP:0001928	HP:0008151	Prolonged prothrombin time	4	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0001928	HP:0011858	Reduced factor IX activity	4	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0001928	HP:0011900	Hypofibrinogenemia	4	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma	HP:0040283 - Occasional
HP:0001928	HP:0008151	Prolonged prothrombin time	4	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent	173
HP:0001928	HP:0008151	Prolonged prothrombin time	4	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	2
HP:0001928	HP:0008151	Prolonged prothrombin time	4	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	41
HP:0001928	HP:0011900	Hypofibrinogenemia	4	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE	.
HP:0001928	HP:0011900	Hypofibrinogenemia	4	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent
HP:0001928	HP:0008151	Prolonged prothrombin time	4	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent
HP:0001928	HP:0008151	Prolonged prothrombin time	4	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0001928	HP:0008151	Prolonged prothrombin time	4	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0001928	HP:0008151	Prolonged prothrombin time	4	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040282 - Frequent	35
HP:0001928	HP:0032198	Decreased prothrombin time	4	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency	.	35
HP:0001928	HP:0011900	Hypofibrinogenemia	4	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	4
HP:0001928	HP:0011899	Hyperfibrinogenemia	4	ITGB2 CL E G H	3689	6155	OMIM:116920	Leukocyte adhesion deficiency, type I		114
HP:0001928	HP:0003125	Reduced factor VIII activity	4	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040281 - Very frequent	56
HP:0001928	HP:0003225	Reduced coagulation factor V activity	4	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040281 - Very frequent	56
HP:0001928	HP:0008151	Prolonged prothrombin time	4	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040281 - Very frequent	56
HP:0001928	HP:0003125	Reduced factor VIII activity	4	LMAN1 CL E G H	3998	6631	OMIM:227300	Factor V and factor VIII, combined deficiency of	.	56
HP:0001928	HP:0003225	Reduced coagulation factor V activity	4	LMAN1 CL E G H	3998	6631	OMIM:227300	Factor V and factor VIII, combined deficiency of	.	56
HP:0001928	HP:0011900	Hypofibrinogenemia	4	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional	239
HP:0001928	HP:0003225	Reduced coagulation factor V activity	4	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040281 - Very frequent	77
HP:0001928	HP:0003125	Reduced factor VIII activity	4	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040281 - Very frequent	77
HP:0001928	HP:0008151	Prolonged prothrombin time	4	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040281 - Very frequent	77
HP:0001928	HP:0003225	Reduced coagulation factor V activity	4	MCFD2 CL E G H	90411	18451	OMIM:613625	Factor V and factor VIII, combined deficiency of		77
HP:0001928	HP:0003125	Reduced factor VIII activity	4	MCFD2 CL E G H	90411	18451	OMIM:613625	Factor V and factor VIII, combined deficiency of		77
HP:0001928	HP:0011900	Hypofibrinogenemia	4	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001928	HP:0011858	Reduced factor IX activity	4	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa		39
HP:0001928	HP:0008151	Prolonged prothrombin time	4	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0001928	HP:0008151	Prolonged prothrombin time	4	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	1
HP:0001928	HP:0008151	Prolonged prothrombin time	4	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040283 - Occasional	81
HP:0001928	HP:0011900	Hypofibrinogenemia	4	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional
HP:0001928	HP:0008151	Prolonged prothrombin time	4	NBAS CL E G H	51594	15625	OMIM:616483	INFANTILE LIVER FAILURE SYNDROME 2; ILFS2		25
HP:0001928	HP:0008151	Prolonged prothrombin time	4	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional	32
HP:0001928	HP:0011900	Hypofibrinogenemia	4	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional	32
HP:0001928	HP:0011900	Hypofibrinogenemia	4	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0001928	HP:0011900	Hypofibrinogenemia	4	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	12
HP:0001928	HP:0008151	Prolonged prothrombin time	4	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0001928	HP:0011900	Hypofibrinogenemia	4	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional
HP:0001928	HP:0008151	Prolonged prothrombin time	4	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to		369
HP:0001928	HP:0008151	Prolonged prothrombin time	4	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0001928	HP:0008151	Prolonged prothrombin time	4	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0001928	HP:0011900	Hypofibrinogenemia	4	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	3
HP:0001928	HP:0008151	Prolonged prothrombin time	4	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.	150
HP:0001928	HP:0011858	Reduced factor IX activity	4	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional	150
HP:0001928	HP:0011900	Hypofibrinogenemia	4	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	58
HP:0001928	HP:0008151	Prolonged prothrombin time	4	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2	.	58
HP:0001928	HP:0011900	Hypofibrinogenemia	4	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0001928	HP:0011900	Hypofibrinogenemia	4	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	134
HP:0001928	HP:0011900	Hypofibrinogenemia	4	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	2
HP:0001928	HP:0008151	Prolonged prothrombin time	4	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3		99
HP:0001928	HP:0008151	Prolonged prothrombin time	4	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional
HP:0001928	HP:0008151	Prolonged prothrombin time	4	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040281 - Very frequent	82
HP:0001928	HP:0008151	Prolonged prothrombin time	4	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040283 - Occasional	42
HP:0001928	HP:0003225	Reduced coagulation factor V activity	4	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0001928	HP:0008151	Prolonged prothrombin time	4	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0001928	HP:0011858	Reduced factor IX activity	4	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0001928	HP:0011900	Hypofibrinogenemia	4	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0001928	HP:0011900	Hypofibrinogenemia	4	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	109
HP:0001928	HP:0011900	Hypofibrinogenemia	4	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040283 - Occasional	104
HP:0001928	HP:0003125	Reduced factor VIII activity	4	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0001928	HP:0008151	Prolonged prothrombin time	4	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9		30
HP:0001928	HP:0011900	Hypofibrinogenemia	4	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	228
HP:0001928	HP:0011900	Hypofibrinogenemia	4	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent	156
HP:0001928	HP:0011900	Hypofibrinogenemia	4	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	110
HP:0001928	HP:0011900	Hypofibrinogenemia	4	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	12
HP:0001928	HP:0011900	Hypofibrinogenemia	4	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	85
HP:0001928	HP:0011900	Hypofibrinogenemia	4	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4		85
HP:0001928	HP:0011900	Hypofibrinogenemia	4	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	70
HP:0001928	HP:0011900	Hypofibrinogenemia	4	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	22
HP:0001928	HP:0008151	Prolonged prothrombin time	4	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	241
HP:0001928	HP:0008151	Prolonged prothrombin time	4	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient		101
HP:0001928	HP:0011900	Hypofibrinogenemia	4	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent	116
HP:0001928	HP:0011900	Hypofibrinogenemia	4	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0001928	HP:0011858	Reduced factor IX activity	4	VKORC1 CL E G H	79001	23663	OMIM:607473	Vitamin K-dependent clotting factors, combined deficiency of, 2	.	25
HP:0001928	HP:0003125	Reduced factor VIII activity	4	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1	.	533
HP:0001928	HP:0003125	Reduced factor VIII activity	4	VWF CL E G H	7450	12726	OMIM:277480	Von willebrand disease, type 3	.	533
HP:0001928	HP:0011900	Hypofibrinogenemia	4	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2		81
HP:0001928	HP:0011900	Hypofibrinogenemia	4	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	1