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:0001677	HP:0001677	Coronary artery atherosclerosis	0	ABCA1 CL E G H	19	29	ORPHA:425	Apolipoprotein A-I deficiency		191
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	ABCA1 CL E G H	19	29	OMIM:604091	HYPOALPHALIPOPROTEINEMIA, PRIMARY		191
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease	.	191
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		415
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	67
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	ABCG5 CL E G H	64240	13886	OMIM:618666	SITOSTEROLEMIA 2; STSL2		67
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	76
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1	.	76
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	ACTA2 CL E G H	59	130	OMIM:611788	AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6		94
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	94
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	APOA1 CL E G H	335	600	ORPHA:425	Apolipoprotein A-I deficiency		40
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	APOA1 CL E G H	335	600	OMIM:618463	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2		40
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	APOA2 CL E G H	336	601	OMIM:143890	Hypercholesterolemia, familial, 1		9
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	356
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	APOB CL E G H	338	603	OMIM:144010	Hypercholesterolemia, familial, 2		356
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia		39
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	HP:0040283 - Occasional	8
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4		1
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure		1
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis		114
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	HP:0040282 - Frequent	11
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	172
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	EPHX2 CL E G H	2053	3402	OMIM:143890	Hypercholesterolemia, familial, 1		1
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome	HP:0040282 - Frequent	13
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	1361
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	23
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	GHR CL E G H	2690	4263	OMIM:143890	Hypercholesterolemia, familial, 1		98
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	2157
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	LDLR CL E G H	3949	6547	OMIM:143890	Hypercholesterolemia, familial, 1		2157
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	73
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	LIPC CL E G H	3990	6619	ORPHA:140905	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency		35
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040283 - Occasional	645
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040283 - Occasional	645
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	LMNA CL E G H	4000	6636	ORPHA:79084	Familial partial lipodystrophy, Köbberling type	HP:0040283 - Occasional	645
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome		645
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent	645
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	LOX CL E G H	4015	6664	OMIM:617168	Aortic aneurysm, familial thoracic 10	HP:0040283 - Occasional	6
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	6
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2		26
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	13
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	11
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	MYH11 CL E G H	4629	7569	OMIM:132900	Aortic aneurysm, familial thoracic 4		418
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	MYH11 CL E G H	4629	7569	ORPHA:229	Familial aortic dissection	HP:0040282 - Frequent	418
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	418
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	326
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	178
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy	HP:0040282 - Frequent	65
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040283 - Occasional	42
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	PPP1R17 CL E G H	10842	16973	OMIM:143890	Hypercholesterolemia, familial, 1		2
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	41
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	SERPIND1 CL E G H	3053	4838	OMIM:612356	Heparin cofactor II deficiency		5
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	7
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	260
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	504
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040284 - Very rare	164
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	162
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	85
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	239
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	253
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		14
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		5
HP:0001677	HP:0001677	Coronary artery atherosclerosis	0	ZNF687 CL E G H	57592	29277	OMIM:616833	Paget disease of bone 6	HP:0040283 - Occasional	2
HP:0001677	HP:0012436	Nonocclusive coronary artery atherosclerosis	1	CL E G H
HP:0001677	HP:0005181	Premature coronary artery atherosclerosis	1	ABCA1 CL E G H	19	29	ORPHA:425	Apolipoprotein A-I deficiency		191
HP:0001677	HP:0005181	Premature coronary artery atherosclerosis	1	ABCA1 CL E G H	19	29	OMIM:604091	HYPOALPHALIPOPROTEINEMIA, PRIMARY		191
HP:0001677	HP:0005181	Premature coronary artery atherosclerosis	1	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	67
HP:0001677	HP:0005181	Premature coronary artery atherosclerosis	1	ABCG5 CL E G H	64240	13886	OMIM:618666	SITOSTEROLEMIA 2; STSL2		67
HP:0001677	HP:0005181	Premature coronary artery atherosclerosis	1	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	76
HP:0001677	HP:0005181	Premature coronary artery atherosclerosis	1	ACTA2 CL E G H	59	130	OMIM:611788	AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6		94
HP:0001677	HP:0005181	Premature coronary artery atherosclerosis	1	APOA1 CL E G H	335	600	ORPHA:425	Apolipoprotein A-I deficiency		40
HP:0001677	HP:0005181	Premature coronary artery atherosclerosis	1	APOA1 CL E G H	335	600	OMIM:618463	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2		40
HP:0001677	HP:0005181	Premature coronary artery atherosclerosis	1	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	356
HP:0001677	HP:0005181	Premature coronary artery atherosclerosis	1	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia	HP:0040283 - Occasional	39
HP:0001677	HP:0005181	Premature coronary artery atherosclerosis	1	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure		1
HP:0001677	HP:0005181	Premature coronary artery atherosclerosis	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional	114
HP:0001677	HP:0005181	Premature coronary artery atherosclerosis	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent	199
HP:0001677	HP:0005181	Premature coronary artery atherosclerosis	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent	55
HP:0001677	HP:0005181	Premature coronary artery atherosclerosis	1	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0001677	HP:0005181	Premature coronary artery atherosclerosis	1	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	2157
HP:0001677	HP:0005181	Premature coronary artery atherosclerosis	1	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	73
HP:0001677	HP:0005181	Premature coronary artery atherosclerosis	1	LIPC CL E G H	3990	6619	ORPHA:140905	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency	HP:0040282 - Frequent	35
HP:0001677	HP:0005181	Premature coronary artery atherosclerosis	1	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome	.	645
HP:0001677	HP:0005181	Premature coronary artery atherosclerosis	1	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2		26
HP:0001677	HP:0005181	Premature coronary artery atherosclerosis	1	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	178
HP:0001677	HP:0004761	Post-angioplasty coronary artery restenosis	1	SERPIND1 CL E G H	3053	4838	OMIM:612356	Heparin cofactor II deficiency	.	5