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:0001658	HP:0001658	Myocardial infarction	0	ABCA1 CL E G H	19	29	OMIM:604091	HYPOALPHALIPOPROTEINEMIA, PRIMARY		191
HP:0001658	HP:0001658	Myocardial infarction	0	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease	.	191
HP:0001658	HP:0001658	Myocardial infarction	0	ABCC6 CL E G H	368	57	OMIM:614473	Arterial calcification, generalized, of infancy, 2	HP:0040283 - Occasional	415
HP:0001658	HP:0001658	Myocardial infarction	0	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	67
HP:0001658	HP:0001658	Myocardial infarction	0	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	76
HP:0001658	HP:0001658	Myocardial infarction	0	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary		129
HP:0001658	HP:0001658	Myocardial infarction	0	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	356
HP:0001658	HP:0001658	Myocardial infarction	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0001658	HP:0001658	Myocardial infarction	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001658	HP:0001658	Myocardial infarction	0	BCHE CL E G H	590	983	ORPHA:132	Butyrylcholinesterase deficiency	HP:0040284 - Very rare	67
HP:0001658	HP:0001658	Myocardial infarction	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001658	HP:0001658	Myocardial infarction	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040284 - Very rare	276
HP:0001658	HP:0001658	Myocardial infarction	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0001658	HP:0001658	Myocardial infarction	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	276
HP:0001658	HP:0001658	Myocardial infarction	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001658	HP:0001658	Myocardial infarction	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0001658	HP:0001658	Myocardial infarction	0	CALR CL E G H	811	1455	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	1
HP:0001658	HP:0001658	Myocardial infarction	0	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency	.	242
HP:0001658	HP:0001658	Myocardial infarction	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040284 - Very rare	1
HP:0001658	HP:0001658	Myocardial infarction	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001658	HP:0001658	Myocardial infarction	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0001658	HP:0001658	Myocardial infarction	0	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4		1
HP:0001658	HP:0001658	Myocardial infarction	0	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure	.	1
HP:0001658	HP:0001658	Myocardial infarction	0	CFTR CL E G H	1080	1884	ORPHA:60033	Idiopathic bronchiectasis	HP:0040283 - Occasional	1371
HP:0001658	HP:0001658	Myocardial infarction	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001658	HP:0001658	Myocardial infarction	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040284 - Very rare	88
HP:0001658	HP:0001658	Myocardial infarction	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis	.	114
HP:0001658	HP:0001658	Myocardial infarction	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001658	HP:0001658	Myocardial infarction	0	DYRK1B CL E G H	9149	3092	OMIM:615812	Abdominal obesity-metabolic syndrome 3	.	7
HP:0001658	HP:0001658	Myocardial infarction	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001658	HP:0001658	Myocardial infarction	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0001658	HP:0001658	Myocardial infarction	0	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1	.	151
HP:0001658	HP:0001658	Myocardial infarction	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0001658	HP:0001658	Myocardial infarction	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional	59
HP:0001658	HP:0001658	Myocardial infarction	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001658	HP:0001658	Myocardial infarction	0	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease	.	291
HP:0001658	HP:0001658	Myocardial infarction	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001658	HP:0001658	Myocardial infarction	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001658	HP:0001658	Myocardial infarction	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001658	HP:0001658	Myocardial infarction	0	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria	HP:0040283 - Occasional	77
HP:0001658	HP:0001658	Myocardial infarction	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional	4
HP:0001658	HP:0001658	Myocardial infarction	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional	4
HP:0001658	HP:0001658	Myocardial infarction	0	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent	4
HP:0001658	HP:0001658	Myocardial infarction	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional	60
HP:0001658	HP:0001658	Myocardial infarction	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional	8
HP:0001658	HP:0001658	Myocardial infarction	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0001658	HP:0001658	Myocardial infarction	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001658	HP:0001658	Myocardial infarction	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001658	HP:0001658	Myocardial infarction	0	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent	31
HP:0001658	HP:0001658	Myocardial infarction	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0001658	HP:0001658	Myocardial infarction	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040283 - Occasional	1
HP:0001658	HP:0001658	Myocardial infarction	0	JAK2 CL E G H	3717	6192	OMIM:133100	Erythrocytosis, familial, 1	.	57
HP:0001658	HP:0001658	Myocardial infarction	0	JAK2 CL E G H	3717	6192	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	57
HP:0001658	HP:0001658	Myocardial infarction	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001658	HP:0001658	Myocardial infarction	0	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	2157
HP:0001658	HP:0001658	Myocardial infarction	0	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	73
HP:0001658	HP:0001658	Myocardial infarction	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001658	HP:0001658	Myocardial infarction	0	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome	.	645
HP:0001658	HP:0001658	Myocardial infarction	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	645
HP:0001658	HP:0001658	Myocardial infarction	0	LPL CL E G H	4023	6677	OMIM:144250	Hyperlipidemia, familial combined, 3		106
HP:0001658	HP:0001658	Myocardial infarction	0	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2	.	26
HP:0001658	HP:0001658	Myocardial infarction	0	MEF2A CL E G H	4205	6993	OMIM:608320	Coronary artery disease, autosomal dominant, 1	.	5
HP:0001658	HP:0001658	Myocardial infarction	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional	281
HP:0001658	HP:0001658	Myocardial infarction	0	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever	HP:0040283 - Occasional	281
HP:0001658	HP:0001658	Myocardial infarction	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001658	HP:0001658	Myocardial infarction	0	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent
HP:0001658	HP:0001658	Myocardial infarction	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001658	HP:0001658	Myocardial infarction	0	MPL CL E G H	4352	7217	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	97
HP:0001658	HP:0001658	Myocardial infarction	0	MYH9 CL E G H	4627	7579	OMIM:155100	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	.	297
HP:0001658	HP:0001658	Myocardial infarction	0	MYH9 CL E G H	4627	7579	ORPHA:182050	MYH9-related disease	HP:0040284 - Very rare	297
HP:0001658	HP:0001658	Myocardial infarction	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0001658	HP:0001658	Myocardial infarction	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0001658	HP:0001658	Myocardial infarction	0	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	178
HP:0001658	HP:0001658	Myocardial infarction	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040283 - Occasional	46
HP:0001658	HP:0001658	Myocardial infarction	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	291
HP:0001658	HP:0001658	Myocardial infarction	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional	212
HP:0001658	HP:0001658	Myocardial infarction	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001658	HP:0001658	Myocardial infarction	0	SCNN1A CL E G H	6337	10599	ORPHA:60033	Idiopathic bronchiectasis	HP:0040283 - Occasional	67
HP:0001658	HP:0001658	Myocardial infarction	0	SCNN1B CL E G H	6338	10600	ORPHA:60033	Idiopathic bronchiectasis	HP:0040283 - Occasional	61
HP:0001658	HP:0001658	Myocardial infarction	0	SCNN1G CL E G H	6340	10602	ORPHA:60033	Idiopathic bronchiectasis	HP:0040283 - Occasional	57
HP:0001658	HP:0001658	Myocardial infarction	0	SH2B3 CL E G H	10019	29605	OMIM:133100	Erythrocytosis, familial, 1	.	4
HP:0001658	HP:0001658	Myocardial infarction	0	SH2B3 CL E G H	10019	29605	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	4
HP:0001658	HP:0001658	Myocardial infarction	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional	178
HP:0001658	HP:0001658	Myocardial infarction	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0001658	HP:0001658	Myocardial infarction	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001658	HP:0001658	Myocardial infarction	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001658	HP:0001658	Myocardial infarction	0	TET2 CL E G H	54790	25941	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	3
HP:0001658	HP:0001658	Myocardial infarction	0	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome	HP:0040283 - Occasional	5
HP:0001658	HP:0001658	Myocardial infarction	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional	3
HP:0001658	HP:0001658	Myocardial infarction	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001658	HP:0001658	Myocardial infarction	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0001658	HP:0001658	Myocardial infarction	0	TP53 CL E G H	7157	11998	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	911
HP:0001658	HP:0001658	Myocardial infarction	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001658	HP:0001658	Myocardial infarction	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0001658	HP:0001658	Myocardial infarction	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0001658	HP:0001658	Myocardial infarction	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040284 - Very rare	490
HP:0001658	HP:0001658	Myocardial infarction	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001658	HP:0001658	Myocardial infarction	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040282 - Frequent	310
HP:0001658	HP:0001658	Myocardial infarction	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	83