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:0003010	HP:0003010	Prolonged bleeding time	0	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	165
HP:0003010	HP:0003010	Prolonged bleeding time	0	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent	72
HP:0003010	HP:0003010	Prolonged bleeding time	0	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome	HP:0040283 - Occasional	1
HP:0003010	HP:0003010	Prolonged bleeding time	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0003010	HP:0003010	Prolonged bleeding time	0	BMS1 CL E G H	9790	23505	ORPHA:1114	Aplasia cutis congenita	HP:0040283 - Occasional	1
HP:0003010	HP:0003010	Prolonged bleeding time	0	CALR CL E G H	811	1455	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	1
HP:0003010	HP:0003010	Prolonged bleeding time	0	CD36 CL E G H	948	1663	OMIM:608404	Platelet glycoprotein IV deficiency	.	53
HP:0003010	HP:0003010	Prolonged bleeding time	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0003010	HP:0003010	Prolonged bleeding time	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	660
HP:0003010	HP:0003010	Prolonged bleeding time	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	325
HP:0003010	HP:0003010	Prolonged bleeding time	0	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI		4
HP:0003010	HP:0003010	Prolonged bleeding time	0	DLL4 CL E G H	54567	2910	ORPHA:1114	Aplasia cutis congenita	HP:0040283 - Occasional	9
HP:0003010	HP:0003010	Prolonged bleeding time	0	F2 CL E G H	2147	3535	OMIM:613679	Congenital prothrombin deficiency	.	44
HP:0003010	HP:0003010	Prolonged bleeding time	0	F5 CL E G H	2153	3542	OMIM:227400	Factor V deficiency	.	159
HP:0003010	HP:0003010	Prolonged bleeding time	0	GATA1 CL E G H	2623	4170	OMIM:314050	Thrombocytopenia with beta-thalassemia, X-linked	.	29
HP:0003010	HP:0003010	Prolonged bleeding time	0	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040281 - Very frequent	137
HP:0003010	HP:0003010	Prolonged bleeding time	0	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17	.	3
HP:0003010	HP:0003010	Prolonged bleeding time	0	GP1BA CL E G H	2811	4439	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		23
HP:0003010	HP:0003010	Prolonged bleeding time	0	GP1BA CL E G H	2811	4439	OMIM:177820	Pseudo-Von willebrand disease	.	23
HP:0003010	HP:0003010	Prolonged bleeding time	0	GP1BB CL E G H	2812	4440	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		8
HP:0003010	HP:0003010	Prolonged bleeding time	0	GP6 CL E G H	51206	14388	OMIM:614201	Bleeding disorder, platelet-type, 11	.	24
HP:0003010	HP:0003010	Prolonged bleeding time	0	GP9 CL E G H	2815	4444	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		21
HP:0003010	HP:0003010	Prolonged bleeding time	0	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1	.	121
HP:0003010	HP:0003010	Prolonged bleeding time	0	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5	.	105
HP:0003010	HP:0003010	Prolonged bleeding time	0	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6	.	45
HP:0003010	HP:0003010	Prolonged bleeding time	0	ITGA2B CL E G H	3674	6138	ORPHA:849	Glanzmann thrombasthenia	HP:0040281 - Very frequent	69
HP:0003010	HP:0003010	Prolonged bleeding time	0	ITGA2B CL E G H	3674	6138	OMIM:273800	Glanzmann thrombasthenia	.	69
HP:0003010	HP:0003010	Prolonged bleeding time	0	ITGB3 CL E G H	3690	6156	ORPHA:849	Glanzmann thrombasthenia	HP:0040281 - Very frequent	80
HP:0003010	HP:0003010	Prolonged bleeding time	0	ITGB3 CL E G H	3690	6156	OMIM:619267	GLANZMANN THROMBASTHENIA 2; GT2		80
HP:0003010	HP:0003010	Prolonged bleeding time	0	ITGB4 CL E G H	3691	6158	ORPHA:1114	Aplasia cutis congenita	HP:0040283 - Occasional	124
HP:0003010	HP:0003010	Prolonged bleeding time	0	JAK2 CL E G H	3717	6192	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	57
HP:0003010	HP:0003010	Prolonged bleeding time	0	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome	HP:0040282 - Frequent	178
HP:0003010	HP:0003010	Prolonged bleeding time	0	MPL CL E G H	4352	7217	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	97
HP:0003010	HP:0003010	Prolonged bleeding time	0	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	.	297
HP:0003010	HP:0003010	Prolonged bleeding time	0	MYH9 CL E G H	4627	7579	ORPHA:182050	MYH9-related disease	HP:0040282 - Frequent	297
HP:0003010	HP:0003010	Prolonged bleeding time	0	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome		2
HP:0003010	HP:0003010	Prolonged bleeding time	0	NBEAL2 CL E G H	23218	31928	OMIM:139090	Gray platelet syndrome	.	127
HP:0003010	HP:0003010	Prolonged bleeding time	0	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome	HP:0040282 - Frequent	1952
HP:0003010	HP:0003010	Prolonged bleeding time	0	PLEC CL E G H	5339	9069	ORPHA:1114	Aplasia cutis congenita	HP:0040283 - Occasional	759
HP:0003010	HP:0003010	Prolonged bleeding time	0	RASGRP2 CL E G H	10235	9879	OMIM:615888	Bleeding disorder, platelet-type, 18	.	11
HP:0003010	HP:0003010	Prolonged bleeding time	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome	.	43
HP:0003010	HP:0003010	Prolonged bleeding time	0	RUNX1 CL E G H	861	10471	OMIM:601399	Platelet disorder, familial, with associated myeloid malignancy		181
HP:0003010	HP:0003010	Prolonged bleeding time	0	SH2B3 CL E G H	10019	29605	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	4
HP:0003010	HP:0003010	Prolonged bleeding time	0	SLC35A1 CL E G H	10559	11021	ORPHA:238459	SLC35A1-CDG	HP:0040281 - Very frequent	24
HP:0003010	HP:0003010	Prolonged bleeding time	0	TEK CL E G H	7010	11724	ORPHA:1059	Blue rubber bleb nevus	HP:0040281 - Very frequent	78
HP:0003010	HP:0003010	Prolonged bleeding time	0	TET2 CL E G H	54790	25941	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	3
HP:0003010	HP:0003010	Prolonged bleeding time	0	TP53 CL E G H	7157	11998	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	911
HP:0003010	HP:0003010	Prolonged bleeding time	0	UBA2 CL E G H	10054	30661	ORPHA:1114	Aplasia cutis congenita	HP:0040283 - Occasional
HP:0003010	HP:0003010	Prolonged bleeding time	0	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1	.	533
HP:0003010	HP:0003010	Prolonged bleeding time	0	VWF CL E G H	7450	12726	OMIM:277480	Von willebrand disease, type 3	.	533
HP:0003010	HP:0003010	Prolonged bleeding time	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040281 - Very frequent	65
HP:0003010	HP:0003010	Prolonged bleeding time	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome	.	65
HP:0003010	HP:0003010	Prolonged bleeding time	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040281 - Very frequent	6