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:0003540	HP:0003540	Impaired platelet aggregation	0	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1	.	76
HP:0003540	HP:0003540	Impaired platelet aggregation	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0003540	HP:0003540	Impaired platelet aggregation	0	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8	.	42
HP:0003540	HP:0003540	Impaired platelet aggregation	0	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0003540	HP:0003540	Impaired platelet aggregation	0	CALR CL E G H	811	1455	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1		1
HP:0003540	HP:0003540	Impaired platelet aggregation	0	CISD2 CL E G H	493856	24212	OMIM:604928	Wolfram syndrome 2		3
HP:0003540	HP:0003540	Impaired platelet aggregation	0	DTNBP1 CL E G H	84062	17328	OMIM:614076	Hermansky-Pudlak syndrome 7	.	46
HP:0003540	HP:0003540	Impaired platelet aggregation	0	EPHB2 CL E G H	2048	3393	OMIM:618462	Bleeding disorder, platelet-type, 22		7
HP:0003540	HP:0003540	Impaired platelet aggregation	0	FLI1 CL E G H	2313	3749	OMIM:617443	Bleeding disorder, platelet-type, 21	.	8
HP:0003540	HP:0003540	Impaired platelet aggregation	0	GATA1 CL E G H	2623	4170	OMIM:300835	Anemia, X-linked, with or without neutropenia and/or platelet abnormalities	HP:0040283 - Occasional	29
HP:0003540	HP:0003540	Impaired platelet aggregation	0	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17		3
HP:0003540	HP:0003540	Impaired platelet aggregation	0	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome		23
HP:0003540	HP:0003540	Impaired platelet aggregation	0	GP1BA CL E G H	2811	4439	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		23
HP:0003540	HP:0003540	Impaired platelet aggregation	0	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome		8
HP:0003540	HP:0003540	Impaired platelet aggregation	0	GP1BB CL E G H	2812	4440	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		8
HP:0003540	HP:0003540	Impaired platelet aggregation	0	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome		21
HP:0003540	HP:0003540	Impaired platelet aggregation	0	GP9 CL E G H	2815	4444	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		21
HP:0003540	HP:0003540	Impaired platelet aggregation	0	HPS3 CL E G H	84343	15597	OMIM:614072	Hermansky-Pudlak syndrome 3		67
HP:0003540	HP:0003540	Impaired platelet aggregation	0	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5		105
HP:0003540	HP:0003540	Impaired platelet aggregation	0	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6		45
HP:0003540	HP:0003540	Impaired platelet aggregation	0	IKZF5 CL E G H	64376	14283	OMIM:619130	THROMBOCYTOPENIA 7; THC7
HP:0003540	HP:0003540	Impaired platelet aggregation	0	ITGA2B CL E G H	3674	6138	OMIM:187800	Bleeding disorder, platelet-type, 16	.	69
HP:0003540	HP:0003540	Impaired platelet aggregation	0	ITGA2B CL E G H	3674	6138	OMIM:273800	Glanzmann thrombasthenia	.	69
HP:0003540	HP:0003540	Impaired platelet aggregation	0	ITGA2B CL E G H	3674	6138	ORPHA:849	Glanzmann thrombasthenia		69
HP:0003540	HP:0003540	Impaired platelet aggregation	0	ITGB3 CL E G H	3690	6156	OMIM:619271	BLEEDING DISORDER, PLATELET-TYPE, 24; BDPLT24		80
HP:0003540	HP:0003540	Impaired platelet aggregation	0	ITGB3 CL E G H	3690	6156	ORPHA:849	Glanzmann thrombasthenia		80
HP:0003540	HP:0003540	Impaired platelet aggregation	0	ITGB3 CL E G H	3690	6156	OMIM:619267	GLANZMANN THROMBASTHENIA 2; GT2		80
HP:0003540	HP:0003540	Impaired platelet aggregation	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.	51
HP:0003540	HP:0003540	Impaired platelet aggregation	0	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0003540	HP:0003540	Impaired platelet aggregation	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional	39
HP:0003540	HP:0003540	Impaired platelet aggregation	0	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss		297
HP:0003540	HP:0003540	Impaired platelet aggregation	0	NBEAL2 CL E G H	23218	31928	OMIM:139090	Gray platelet syndrome		127
HP:0003540	HP:0003540	Impaired platelet aggregation	0	P2RY12 CL E G H	64805	18124	OMIM:609821	Bleeding disorder, platelet-type, 8		5
HP:0003540	HP:0003540	Impaired platelet aggregation	0	PLA2G4A CL E G H	5321	9035	OMIM:618372	GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS; GURDP		2
HP:0003540	HP:0003540	Impaired platelet aggregation	0	PLAU CL E G H	5328	9052	OMIM:601709	Quebec platelet disorder		50
HP:0003540	HP:0003540	Impaired platelet aggregation	0	RASGRP2 CL E G H	10235	9879	OMIM:615888	Bleeding disorder, platelet-type, 18	.	11
HP:0003540	HP:0003540	Impaired platelet aggregation	0	RUNX1 CL E G H	861	10471	OMIM:601399	Platelet disorder, familial, with associated myeloid malignancy		181
HP:0003540	HP:0003540	Impaired platelet aggregation	0	SH2B3 CL E G H	10019	29605	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1		4
HP:0003540	HP:0003540	Impaired platelet aggregation	0	TBXA2R CL E G H	6915	11608	OMIM:614009	BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13		10
HP:0003540	HP:0003540	Impaired platelet aggregation	0	THPO CL E G H	7066	11795	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1		23
HP:0003540	HP:0003540	Impaired platelet aggregation	0	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1	.	533
HP:0003540	HP:0003540	Impaired platelet aggregation	0	VWF CL E G H	7450	12726	OMIM:277480	Von willebrand disease, type 3	.	533
HP:0003540	HP:0031130	Impaired calcium ionophore-induced platelet aggregation	1	CL E G H
HP:0003540	HP:0031129	Impaired phorbol myristate acetate-induced platelet aggregation	1	CL E G H
HP:0003540	HP:0031128	Impaired collagen-related peptide-induced platelet aggregation	1	CL E G H
HP:0003540	HP:0031127	Impaired convulxin-induced platelet aggregation	1	CL E G H
HP:0003540	HP:0004866	Impaired ADP-induced platelet aggregation	1	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0003540	HP:0008320	Impaired collagen-induced platelet aggregation	1	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0003540	HP:0004866	Impaired ADP-induced platelet aggregation	1	CALR CL E G H	811	1455	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1		1
HP:0003540	HP:0008148	Impaired epinephrine-induced platelet aggregation	1	CALR CL E G H	811	1455	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1		1
HP:0003540	HP:0008320	Impaired collagen-induced platelet aggregation	1	CALR CL E G H	811	1455	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1		1
HP:0003540	HP:0008320	Impaired collagen-induced platelet aggregation	1	CISD2 CL E G H	493856	24212	OMIM:604928	Wolfram syndrome 2		3
HP:0003540	HP:0004866	Impaired ADP-induced platelet aggregation	1	FLI1 CL E G H	2313	3749	OMIM:617443	Bleeding disorder, platelet-type, 21		8
HP:0003540	HP:0008320	Impaired collagen-induced platelet aggregation	1	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17		3
HP:0003540	HP:0008148	Impaired epinephrine-induced platelet aggregation	1	GFI1B CL E G H	8328	4238	OMIM:187900	Bleeding disorder, platelet-type, 17		3
HP:0003540	HP:0011871	Impaired ristocetin-induced platelet aggregation	1	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome	HP:0040280 - Obligate	23
HP:0003540	HP:0011871	Impaired ristocetin-induced platelet aggregation	1	GP1BA CL E G H	2811	4439	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		23
HP:0003540	HP:0011871	Impaired ristocetin-induced platelet aggregation	1	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome	HP:0040280 - Obligate	8
HP:0003540	HP:0011871	Impaired ristocetin-induced platelet aggregation	1	GP1BB CL E G H	2812	4440	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		8
HP:0003540	HP:0011871	Impaired ristocetin-induced platelet aggregation	1	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome	HP:0040280 - Obligate	21
HP:0003540	HP:0011871	Impaired ristocetin-induced platelet aggregation	1	GP9 CL E G H	2815	4444	OMIM:231200	BERNARD-SOULIER SYNDROME; BSS		21
HP:0003540	HP:0004866	Impaired ADP-induced platelet aggregation	1	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5		105
HP:0003540	HP:0004866	Impaired ADP-induced platelet aggregation	1	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6	.	45
HP:0003540	HP:0011871	Impaired ristocetin-induced platelet aggregation	1	IKZF5 CL E G H	64376	14283	OMIM:619130	THROMBOCYTOPENIA 7; THC7
HP:0003540	HP:0004866	Impaired ADP-induced platelet aggregation	1	IKZF5 CL E G H	64376	14283	OMIM:619130	THROMBOCYTOPENIA 7; THC7
HP:0003540	HP:0011870	Impaired arachidonic acid-induced platelet aggregation	1	IKZF5 CL E G H	64376	14283	OMIM:619130	THROMBOCYTOPENIA 7; THC7
HP:0003540	HP:0008320	Impaired collagen-induced platelet aggregation	1	IKZF5 CL E G H	64376	14283	OMIM:619130	THROMBOCYTOPENIA 7; THC7
HP:0003540	HP:0008320	Impaired collagen-induced platelet aggregation	1	ITGA2B CL E G H	3674	6138	OMIM:273800	Glanzmann thrombasthenia		69
HP:0003540	HP:0004866	Impaired ADP-induced platelet aggregation	1	ITGA2B CL E G H	3674	6138	OMIM:273800	Glanzmann thrombasthenia		69
HP:0003540	HP:0011871	Impaired ristocetin-induced platelet aggregation	1	ITGA2B CL E G H	3674	6138	ORPHA:849	Glanzmann thrombasthenia	HP:0040284 - Very rare	69
HP:0003540	HP:0008148	Impaired epinephrine-induced platelet aggregation	1	ITGA2B CL E G H	3674	6138	OMIM:273800	Glanzmann thrombasthenia		69
HP:0003540	HP:0008148	Impaired epinephrine-induced platelet aggregation	1	ITGB3 CL E G H	3690	6156	OMIM:619271	BLEEDING DISORDER, PLATELET-TYPE, 24; BDPLT24		80
HP:0003540	HP:0004866	Impaired ADP-induced platelet aggregation	1	ITGB3 CL E G H	3690	6156	OMIM:619271	BLEEDING DISORDER, PLATELET-TYPE, 24; BDPLT24		80
HP:0003540	HP:0008320	Impaired collagen-induced platelet aggregation	1	ITGB3 CL E G H	3690	6156	OMIM:619271	BLEEDING DISORDER, PLATELET-TYPE, 24; BDPLT24		80
HP:0003540	HP:0011870	Impaired arachidonic acid-induced platelet aggregation	1	ITGB3 CL E G H	3690	6156	OMIM:619271	BLEEDING DISORDER, PLATELET-TYPE, 24; BDPLT24		80
HP:0003540	HP:0011871	Impaired ristocetin-induced platelet aggregation	1	ITGB3 CL E G H	3690	6156	ORPHA:849	Glanzmann thrombasthenia	HP:0040284 - Very rare	80
HP:0003540	HP:0008148	Impaired epinephrine-induced platelet aggregation	1	ITGB3 CL E G H	3690	6156	OMIM:619267	GLANZMANN THROMBASTHENIA 2; GT2		80
HP:0003540	HP:0004866	Impaired ADP-induced platelet aggregation	1	ITGB3 CL E G H	3690	6156	OMIM:619267	GLANZMANN THROMBASTHENIA 2; GT2		80
HP:0003540	HP:0008320	Impaired collagen-induced platelet aggregation	1	ITGB3 CL E G H	3690	6156	OMIM:619267	GLANZMANN THROMBASTHENIA 2; GT2		80
HP:0003540	HP:0008320	Impaired collagen-induced platelet aggregation	1	LCP2 CL E G H	3937	6529	OMIM:619374	IMMUNODEFICIENCY 81; IMD81
HP:0003540	HP:0008148	Impaired epinephrine-induced platelet aggregation	1	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss		297
HP:0003540	HP:0004866	Impaired ADP-induced platelet aggregation	1	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss		297
HP:0003540	HP:0008320	Impaired collagen-induced platelet aggregation	1	NBEAL2 CL E G H	23218	31928	OMIM:139090	Gray platelet syndrome	.	127
HP:0003540	HP:0011872	Impaired thrombin-induced platelet aggregation	1	NBEAL2 CL E G H	23218	31928	OMIM:139090	Gray platelet syndrome	.	127
HP:0003540	HP:0004866	Impaired ADP-induced platelet aggregation	1	P2RY12 CL E G H	64805	18124	OMIM:609821	Bleeding disorder, platelet-type, 8		5
HP:0003540	HP:0008148	Impaired epinephrine-induced platelet aggregation	1	PLAU CL E G H	5328	9052	OMIM:601709	Quebec platelet disorder	.	50
HP:0003540	HP:0004866	Impaired ADP-induced platelet aggregation	1	SH2B3 CL E G H	10019	29605	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1		4
HP:0003540	HP:0008148	Impaired epinephrine-induced platelet aggregation	1	SH2B3 CL E G H	10019	29605	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1		4
HP:0003540	HP:0008320	Impaired collagen-induced platelet aggregation	1	SH2B3 CL E G H	10019	29605	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1		4
HP:0003540	HP:0011894	Impaired thromboxane A2 agonist-induced platelet aggregation	1	TBXA2R CL E G H	6915	11608	OMIM:614009	BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO; BDPLT13		10
HP:0003540	HP:0008148	Impaired epinephrine-induced platelet aggregation	1	THPO CL E G H	7066	11795	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1		23
HP:0003540	HP:0004866	Impaired ADP-induced platelet aggregation	1	THPO CL E G H	7066	11795	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1		23
HP:0003540	HP:0008320	Impaired collagen-induced platelet aggregation	1	THPO CL E G H	7066	11795	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1		23