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:0012143	HP:0012143	Abnormal megakaryocyte morphology	0	ANKRD26 CL E G H	22852	29186	OMIM:188000	THROMBOCYTOPENIA 2; THC2		106
HP:0012143	HP:0012143	Abnormal megakaryocyte morphology	0	CALR CL E G H	811	1455	ORPHA:3318	Essential thrombocythemia		1
HP:0012143	HP:0012143	Abnormal megakaryocyte morphology	0	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent	1
HP:0012143	HP:0012143	Abnormal megakaryocyte morphology	0	GATA1 CL E G H	2623	4170	ORPHA:67044	Thrombocytopenia with congenital dyserythropoietic anemia	HP:0040281 - Very frequent	29
HP:0012143	HP:0012143	Abnormal megakaryocyte morphology	0	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma
HP:0012143	HP:0012143	Abnormal megakaryocyte morphology	0	GP1BA CL E G H	2811	4439	ORPHA:274	Bernard-Soulier syndrome	HP:0040283 - Occasional	23
HP:0012143	HP:0012143	Abnormal megakaryocyte morphology	0	GP1BB CL E G H	2812	4440	ORPHA:274	Bernard-Soulier syndrome	HP:0040283 - Occasional	8
HP:0012143	HP:0012143	Abnormal megakaryocyte morphology	0	GP9 CL E G H	2815	4444	ORPHA:274	Bernard-Soulier syndrome	HP:0040283 - Occasional	21
HP:0012143	HP:0012143	Abnormal megakaryocyte morphology	0	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia		3
HP:0012143	HP:0012143	Abnormal megakaryocyte morphology	0	JAK2 CL E G H	3717	6192	ORPHA:3318	Essential thrombocythemia		57
HP:0012143	HP:0012143	Abnormal megakaryocyte morphology	0	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera		57
HP:0012143	HP:0012143	Abnormal megakaryocyte morphology	0	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent	57
HP:0012143	HP:0012143	Abnormal megakaryocyte morphology	0	JAK2 CL E G H	3717	6192	OMIM:614521	Thrombocythemia 3		57
HP:0012143	HP:0012143	Abnormal megakaryocyte morphology	0	KIF15 CL E G H	56992	17273	OMIM:619981
HP:0012143	HP:0012143	Abnormal megakaryocyte morphology	0	MPL CL E G H	4352	7217	OMIM:604498	Amegakaryocytic thrombocytopenia, congenital		97
HP:0012143	HP:0012143	Abnormal megakaryocyte morphology	0	MPL CL E G H	4352	7217	ORPHA:3318	Essential thrombocythemia		97
HP:0012143	HP:0012143	Abnormal megakaryocyte morphology	0	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent	97
HP:0012143	HP:0012143	Abnormal megakaryocyte morphology	0	MPL CL E G H	4352	7217	OMIM:601977	THROMBOCYTHEMIA 2; THCYT2		97
HP:0012143	HP:0012143	Abnormal megakaryocyte morphology	0	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss		297
HP:0012143	HP:0012143	Abnormal megakaryocyte morphology	0	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0012143	HP:0012143	Abnormal megakaryocyte morphology	0	RFWD3 CL E G H	55159	25539	OMIM:617784	Fanconi anemia, complementation group W
HP:0012143	HP:0012143	Abnormal megakaryocyte morphology	0	RPS14 CL E G H	6208	10387	OMIM:153550	Chromosome 5q deletion syndrome
HP:0012143	HP:0012143	Abnormal megakaryocyte morphology	0	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	HP:0040282 - Frequent
HP:0012143	HP:0012143	Abnormal megakaryocyte morphology	0	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2		8
HP:0012143	HP:0012143	Abnormal megakaryocyte morphology	0	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040283 - Occasional	19
HP:0012143	HP:0012143	Abnormal megakaryocyte morphology	0	SH2B3 CL E G H	10019	29605	ORPHA:3318	Essential thrombocythemia		4
HP:0012143	HP:0012143	Abnormal megakaryocyte morphology	0	SLC35A1 CL E G H	10559	11021	ORPHA:238459	SLC35A1-CDG	HP:0040281 - Very frequent	24
HP:0012143	HP:0012143	Abnormal megakaryocyte morphology	0	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040283 - Occasional	3
HP:0012143	HP:0012143	Abnormal megakaryocyte morphology	0	TET2 CL E G H	54790	25941	ORPHA:3318	Essential thrombocythemia		3
HP:0012143	HP:0012143	Abnormal megakaryocyte morphology	0	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent	3
HP:0012143	HP:0012143	Abnormal megakaryocyte morphology	0	TP53 CL E G H	7157	11998	ORPHA:3318	Essential thrombocythemia		911
HP:0012143	HP:0012143	Abnormal megakaryocyte morphology	0	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS		35
HP:0012143	HP:0012143	Abnormal megakaryocyte morphology	0	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0012143	HP:0031388	Megakaryocyte nucleus hyperlobulation	1	CL E G H
HP:0012143	HP:0031387	Increased multinucleated megakaryocyte count	1	CL E G H
HP:0012143	HP:0034010	Increased megakaryocyte colony forming unit count	1	ANKRD26 CL E G H	22852	29186	OMIM:188000	THROMBOCYTOPENIA 2; THC2		106
HP:0012143	HP:0005513	Increased megakaryocyte count	1	CALR CL E G H	811	1455	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	1
HP:0012143	HP:0005548	Megakaryocytopenia	1	GNA14 CL E G H	9630	4382	ORPHA:1063	Tufted angioma	HP:0040283 - Occasional
HP:0012143	HP:0005548	Megakaryocytopenia	1	HOXA11 CL E G H	3207	5101	OMIM:605432	Radioulnar synostosis with amegakaryocytic thrombocytopenia	.	3
HP:0012143	HP:0005513	Increased megakaryocyte count	1	JAK2 CL E G H	3717	6192	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	57
HP:0012143	HP:0005513	Increased megakaryocyte count	1	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera	.	57
HP:0012143	HP:0031386	Increased micromegakaryocyte count	1	JAK2 CL E G H	3717	6192	OMIM:614521	Thrombocythemia 3		57
HP:0012143	HP:0005548	Megakaryocytopenia	1	KIF15 CL E G H	56992	17273	OMIM:619981
HP:0012143	HP:0005548	Megakaryocytopenia	1	MPL CL E G H	4352	7217	OMIM:604498	Amegakaryocytic thrombocytopenia, congenital	.	97
HP:0012143	HP:0005513	Increased megakaryocyte count	1	MPL CL E G H	4352	7217	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	97
HP:0012143	HP:0005513	Increased megakaryocyte count	1	MPL CL E G H	4352	7217	OMIM:601977	THROMBOCYTHEMIA 2; THCYT2		97
HP:0012143	HP:0031689	Megakaryocyte dysplasia	1	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss		297
HP:0012143	HP:0031689	Megakaryocyte dysplasia	1	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	HP:0040282 - Frequent
HP:0012143	HP:0031689	Megakaryocyte dysplasia	1	RFWD3 CL E G H	55159	25539	OMIM:617784	Fanconi anemia, complementation group W
HP:0012143	HP:0031385	Megakaryocyte nucleus hypolobulation	1	RPS14 CL E G H	6208	10387	OMIM:153550	Chromosome 5q deletion syndrome
HP:0012143	HP:0031385	Megakaryocyte nucleus hypolobulation	1	RPS14 CL E G H	6208	10387	ORPHA:86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	HP:0040282 - Frequent
HP:0012143	HP:0031689	Megakaryocyte dysplasia	1	SAMD9 CL E G H	54809	1348	OMIM:619041	MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2		8
HP:0012143	HP:0005513	Increased megakaryocyte count	1	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040284 - Very rare	19
HP:0012143	HP:0005513	Increased megakaryocyte count	1	SH2B3 CL E G H	10019	29605	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	4
HP:0012143	HP:0005513	Increased megakaryocyte count	1	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040284 - Very rare	3
HP:0012143	HP:0005513	Increased megakaryocyte count	1	TET2 CL E G H	54790	25941	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	3
HP:0012143	HP:0005513	Increased megakaryocyte count	1	TP53 CL E G H	7157	11998	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	911
HP:0012143	HP:0031689	Megakaryocyte dysplasia	1	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS		35
HP:0012143	HP:0005548	Megakaryocytopenia	1	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91