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:0002634	HP:0002634	Arteriosclerosis	0	ABCA1 CL E G H	19	29	ORPHA:425	Apolipoprotein A-I deficiency		191
HP:0002634	HP:0002634	Arteriosclerosis	0	ABCA1 CL E G H	19	29	OMIM:604091	HYPOALPHALIPOPROTEINEMIA, PRIMARY		191
HP:0002634	HP:0002634	Arteriosclerosis	0	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease		191
HP:0002634	HP:0002634	Arteriosclerosis	0	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease		191
HP:0002634	HP:0002634	Arteriosclerosis	0	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum		415
HP:0002634	HP:0002634	Arteriosclerosis	0	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste	.	415
HP:0002634	HP:0002634	Arteriosclerosis	0	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		415
HP:0002634	HP:0002634	Arteriosclerosis	0	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia		67
HP:0002634	HP:0002634	Arteriosclerosis	0	ABCG5 CL E G H	64240	13886	OMIM:618666	SITOSTEROLEMIA 2; STSL2		67
HP:0002634	HP:0002634	Arteriosclerosis	0	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia		76
HP:0002634	HP:0002634	Arteriosclerosis	0	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1		76
HP:0002634	HP:0002634	Arteriosclerosis	0	ACTA2 CL E G H	59	130	OMIM:611788	AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6		94
HP:0002634	HP:0002634	Arteriosclerosis	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		94
HP:0002634	HP:0002634	Arteriosclerosis	0	AGXT CL E G H	189	341	ORPHA:93598	Primary hyperoxaluria type 1		260
HP:0002634	HP:0002634	Arteriosclerosis	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome		404
HP:0002634	HP:0002634	Arteriosclerosis	0	ANGPTL6 CL E G H	83854	23140	ORPHA:231160	Familial cerebral saccular aneurysm
HP:0002634	HP:0002634	Arteriosclerosis	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome		8
HP:0002634	HP:0002634	Arteriosclerosis	0	APOA1 CL E G H	335	600	ORPHA:425	Apolipoprotein A-I deficiency		40
HP:0002634	HP:0002634	Arteriosclerosis	0	APOA1 CL E G H	335	600	OMIM:618463	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2		40
HP:0002634	HP:0002634	Arteriosclerosis	0	APOA2 CL E G H	336	601	OMIM:143890	Hypercholesterolemia, familial, 1		9
HP:0002634	HP:0002634	Arteriosclerosis	0	APOA5 CL E G H	116519	17288	OMIM:145750	Hypertriglyceridemia, familial		7
HP:0002634	HP:0002634	Arteriosclerosis	0	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia		356
HP:0002634	HP:0002634	Arteriosclerosis	0	APOB CL E G H	338	603	OMIM:144010	Hypercholesterolemia, familial, 2		356
HP:0002634	HP:0002634	Arteriosclerosis	0	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia		39
HP:0002634	HP:0002634	Arteriosclerosis	0	APOE CL E G H	348	613	OMIM:269600	Sea-Blue histiocyte disease		39
HP:0002634	HP:0002634	Arteriosclerosis	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease		78
HP:0002634	HP:0002634	Arteriosclerosis	0	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome		8
HP:0002634	HP:0002634	Arteriosclerosis	0	CAT CL E G H	847	1516	ORPHA:926	Acatalasemia	HP:0040284 - Very rare	5
HP:0002634	HP:0002634	Arteriosclerosis	0	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4		1
HP:0002634	HP:0002634	Arteriosclerosis	0	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure		1
HP:0002634	HP:0002634	Arteriosclerosis	0	COL3A1 CL E G H	1281	2201	ORPHA:231160	Familial cerebral saccular aneurysm		749
HP:0002634	HP:0002634	Arteriosclerosis	0	CSF2RA CL E G H	1438	2435	ORPHA:264675	Hereditary pulmonary alveolar proteinosis		15
HP:0002634	HP:0002634	Arteriosclerosis	0	CSF2RB CL E G H	1439	2436	ORPHA:264675	Hereditary pulmonary alveolar proteinosis		17
HP:0002634	HP:0002634	Arteriosclerosis	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis		114
HP:0002634	HP:0002634	Arteriosclerosis	0	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency		11
HP:0002634	HP:0002634	Arteriosclerosis	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		172
HP:0002634	HP:0002634	Arteriosclerosis	0	ENG CL E G H	2022	3349	ORPHA:231160	Familial cerebral saccular aneurysm		186
HP:0002634	HP:0002634	Arteriosclerosis	0	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum		151
HP:0002634	HP:0002634	Arteriosclerosis	0	EPHX2 CL E G H	2053	3402	OMIM:143890	Hypercholesterolemia, familial, 1		1
HP:0002634	HP:0002634	Arteriosclerosis	0	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	106
HP:0002634	HP:0002634	Arteriosclerosis	0	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	54
HP:0002634	HP:0002634	Arteriosclerosis	0	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	158
HP:0002634	HP:0002634	Arteriosclerosis	0	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent	83
HP:0002634	HP:0002634	Arteriosclerosis	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0002634	HP:0002634	Arteriosclerosis	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0002634	HP:0002634	Arteriosclerosis	0	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome		13
HP:0002634	HP:0002634	Arteriosclerosis	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		1361
HP:0002634	HP:0002634	Arteriosclerosis	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		23
HP:0002634	HP:0002634	Arteriosclerosis	0	GGCX CL E G H	2677	4247	ORPHA:91135	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency		129
HP:0002634	HP:0002634	Arteriosclerosis	0	GGCX CL E G H	2677	4247	OMIM:610842	PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY		129
HP:0002634	HP:0002634	Arteriosclerosis	0	GHR CL E G H	2690	4263	OMIM:143890	Hypercholesterolemia, familial, 1		98
HP:0002634	HP:0002634	Arteriosclerosis	0	GLB1 CL E G H	2720	4298	OMIM:230650	Gm1-gangliosidosis, type III		120
HP:0002634	HP:0002634	Arteriosclerosis	0	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0002634	HP:0002634	Arteriosclerosis	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection
HP:0002634	HP:0002634	Arteriosclerosis	0	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria		77
HP:0002634	HP:0002634	Arteriosclerosis	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis		2
HP:0002634	HP:0002634	Arteriosclerosis	0	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0002634	HP:0002634	Arteriosclerosis	0	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy		34
HP:0002634	HP:0002634	Arteriosclerosis	0	LCAT CL E G H	3931	6522	ORPHA:79292	Fish-eye disease		26
HP:0002634	HP:0002634	Arteriosclerosis	0	LCAT CL E G H	3931	6522	OMIM:245900	Lecithin:cholesterol acyltransferase deficiency		26
HP:0002634	HP:0002634	Arteriosclerosis	0	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia		2157
HP:0002634	HP:0002634	Arteriosclerosis	0	LDLR CL E G H	3949	6547	OMIM:143890	Hypercholesterolemia, familial, 1		2157
HP:0002634	HP:0002634	Arteriosclerosis	0	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia		73
HP:0002634	HP:0002634	Arteriosclerosis	0	LDLRAP1 CL E G H	26119	18640	OMIM:603813	Hypercholesterolemia, autosomal recessive		73
HP:0002634	HP:0002634	Arteriosclerosis	0	LIPA CL E G H	3988	6617	ORPHA:75234	Cholesteryl ester storage disease	HP:0040282 - Frequent	73
HP:0002634	HP:0002634	Arteriosclerosis	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0002634	HP:0002634	Arteriosclerosis	0	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease		73
HP:0002634	HP:0002634	Arteriosclerosis	0	LIPC CL E G H	3990	6619	ORPHA:140905	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency		35
HP:0002634	HP:0002634	Arteriosclerosis	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome		645
HP:0002634	HP:0002634	Arteriosclerosis	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy		645
HP:0002634	HP:0002634	Arteriosclerosis	0	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type		645
HP:0002634	HP:0002634	Arteriosclerosis	0	LMNA CL E G H	4000	6636	ORPHA:79084	Familial partial lipodystrophy, Köbberling type		645
HP:0002634	HP:0002634	Arteriosclerosis	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0002634	HP:0002634	Arteriosclerosis	0	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome		645
HP:0002634	HP:0002634	Arteriosclerosis	0	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2		645
HP:0002634	HP:0002634	Arteriosclerosis	0	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome		645
HP:0002634	HP:0002634	Arteriosclerosis	0	LOX CL E G H	4015	6664	OMIM:617168	Aortic aneurysm, familial thoracic 10		6
HP:0002634	HP:0002634	Arteriosclerosis	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		6
HP:0002634	HP:0002634	Arteriosclerosis	0	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2		26
HP:0002634	HP:0002634	Arteriosclerosis	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		13
HP:0002634	HP:0002634	Arteriosclerosis	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		11
HP:0002634	HP:0002634	Arteriosclerosis	0	MYH11 CL E G H	4629	7569	OMIM:132900	Aortic aneurysm, familial thoracic 4		418
HP:0002634	HP:0002634	Arteriosclerosis	0	MYH11 CL E G H	4629	7569	ORPHA:229	Familial aortic dissection		418
HP:0002634	HP:0002634	Arteriosclerosis	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		418
HP:0002634	HP:0002634	Arteriosclerosis	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		326
HP:0002634	HP:0002634	Arteriosclerosis	0	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency		43
HP:0002634	HP:0002634	Arteriosclerosis	0	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1		258
HP:0002634	HP:0002634	Arteriosclerosis	0	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2		33
HP:0002634	HP:0002634	Arteriosclerosis	0	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia		178
HP:0002634	HP:0002634	Arteriosclerosis	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0002634	HP:0002634	Arteriosclerosis	0	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy		65
HP:0002634	HP:0002634	Arteriosclerosis	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy		42
HP:0002634	HP:0002634	Arteriosclerosis	0	PPP1R17 CL E G H	10842	16973	OMIM:143890	Hypercholesterolemia, familial, 1		2
HP:0002634	HP:0002634	Arteriosclerosis	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		41
HP:0002634	HP:0002634	Arteriosclerosis	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0002634	HP:0002634	Arteriosclerosis	0	SERPIND1 CL E G H	3053	4838	OMIM:612356	Heparin cofactor II deficiency		5
HP:0002634	HP:0002634	Arteriosclerosis	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		7
HP:0002634	HP:0002634	Arteriosclerosis	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		260
HP:0002634	HP:0002634	Arteriosclerosis	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		504
HP:0002634	HP:0002634	Arteriosclerosis	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.	74
HP:0002634	HP:0002634	Arteriosclerosis	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0002634	HP:0002634	Arteriosclerosis	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B		164
HP:0002634	HP:0002634	Arteriosclerosis	0	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A		164
HP:0002634	HP:0002634	Arteriosclerosis	0	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B		164
HP:0002634	HP:0002634	Arteriosclerosis	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		162
HP:0002634	HP:0002634	Arteriosclerosis	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		85
HP:0002634	HP:0002634	Arteriosclerosis	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		239
HP:0002634	HP:0002634	Arteriosclerosis	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		253
HP:0002634	HP:0002634	Arteriosclerosis	0	TGFBR3 CL E G H	7049	11774	ORPHA:231160	Familial cerebral saccular aneurysm		1
HP:0002634	HP:0002634	Arteriosclerosis	0	THSD1 CL E G H	55901	17754	ORPHA:231160	Familial cerebral saccular aneurysm		2
HP:0002634	HP:0002634	Arteriosclerosis	0	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1		134
HP:0002634	HP:0002634	Arteriosclerosis	0	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome		310
HP:0002634	HP:0002634	Arteriosclerosis	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome		310
HP:0002634	HP:0002634	Arteriosclerosis	0	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		14
HP:0002634	HP:0002634	Arteriosclerosis	0	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		5
HP:0002634	HP:0002634	Arteriosclerosis	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:0002634	HP:0002634	Arteriosclerosis	0	ZNF687 CL E G H	57592	29277	OMIM:616833	Paget disease of bone 6		2
HP:0002634	HP:0002621	Atherosclerosis	1	ABCA1 CL E G H	19	29	ORPHA:425	Apolipoprotein A-I deficiency		191
HP:0002634	HP:0002621	Atherosclerosis	1	ABCA1 CL E G H	19	29	OMIM:604091	HYPOALPHALIPOPROTEINEMIA, PRIMARY		191
HP:0002634	HP:0002621	Atherosclerosis	1	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease	.	191
HP:0002634	HP:0002621	Atherosclerosis	1	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease		191
HP:0002634	HP:0002621	Atherosclerosis	1	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional	415
HP:0002634	HP:0002621	Atherosclerosis	1	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		415
HP:0002634	HP:0005177	Premature arteriosclerosis	1	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040281 - Very frequent	67
HP:0002634	HP:0002621	Atherosclerosis	1	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia		67
HP:0002634	HP:0002621	Atherosclerosis	1	ABCG5 CL E G H	64240	13886	OMIM:618666	SITOSTEROLEMIA 2; STSL2		67
HP:0002634	HP:0002621	Atherosclerosis	1	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia		76
HP:0002634	HP:0005177	Premature arteriosclerosis	1	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040281 - Very frequent	76
HP:0002634	HP:0002621	Atherosclerosis	1	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1		76
HP:0002634	HP:0002621	Atherosclerosis	1	ACTA2 CL E G H	59	130	OMIM:611788	AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6		94
HP:0002634	HP:0002621	Atherosclerosis	1	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		94
HP:0002634	HP:0002621	Atherosclerosis	1	AGXT CL E G H	189	341	ORPHA:93598	Primary hyperoxaluria type 1	HP:0040284 - Very rare	260
HP:0002634	HP:0002621	Atherosclerosis	1	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.	404
HP:0002634	HP:0002621	Atherosclerosis	1	ANGPTL6 CL E G H	83854	23140	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040282 - Frequent
HP:0002634	HP:0002621	Atherosclerosis	1	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040283 - Occasional	8
HP:0002634	HP:0002621	Atherosclerosis	1	APOA1 CL E G H	335	600	ORPHA:425	Apolipoprotein A-I deficiency		40
HP:0002634	HP:0002621	Atherosclerosis	1	APOA1 CL E G H	335	600	OMIM:618463	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2		40
HP:0002634	HP:0002621	Atherosclerosis	1	APOA2 CL E G H	336	601	OMIM:143890	Hypercholesterolemia, familial, 1		9
HP:0002634	HP:0002621	Atherosclerosis	1	APOA5 CL E G H	116519	17288	OMIM:145750	Hypertriglyceridemia, familial		7
HP:0002634	HP:0005177	Premature arteriosclerosis	1	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040281 - Very frequent	356
HP:0002634	HP:0002621	Atherosclerosis	1	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia		356
HP:0002634	HP:0002621	Atherosclerosis	1	APOB CL E G H	338	603	OMIM:144010	Hypercholesterolemia, familial, 2		356
HP:0002634	HP:0002621	Atherosclerosis	1	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia		39
HP:0002634	HP:0002621	Atherosclerosis	1	APOE CL E G H	348	613	OMIM:269600	Sea-Blue histiocyte disease		39
HP:0002634	HP:0002621	Atherosclerosis	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease		78
HP:0002634	HP:0002621	Atherosclerosis	1	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome		8
HP:0002634	HP:0002621	Atherosclerosis	1	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4		1
HP:0002634	HP:0002621	Atherosclerosis	1	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure		1
HP:0002634	HP:0002621	Atherosclerosis	1	COL3A1 CL E G H	1281	2201	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040282 - Frequent	749
HP:0002634	HP:0002621	Atherosclerosis	1	CSF2RA CL E G H	1438	2435	ORPHA:264675	Hereditary pulmonary alveolar proteinosis		15
HP:0002634	HP:0002621	Atherosclerosis	1	CSF2RB CL E G H	1439	2436	ORPHA:264675	Hereditary pulmonary alveolar proteinosis		17
HP:0002634	HP:0002621	Atherosclerosis	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis		114
HP:0002634	HP:0002621	Atherosclerosis	1	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency		11
HP:0002634	HP:0002621	Atherosclerosis	1	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		172
HP:0002634	HP:0002621	Atherosclerosis	1	ENG CL E G H	2022	3349	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040282 - Frequent	186
HP:0002634	HP:0002621	Atherosclerosis	1	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional	151
HP:0002634	HP:0002621	Atherosclerosis	1	EPHX2 CL E G H	2053	3402	OMIM:143890	Hypercholesterolemia, familial, 1		1
HP:0002634	HP:0002621	Atherosclerosis	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0002634	HP:0002621	Atherosclerosis	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0002634	HP:0002621	Atherosclerosis	1	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome		13
HP:0002634	HP:0002621	Atherosclerosis	1	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		1361
HP:0002634	HP:0002621	Atherosclerosis	1	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		23
HP:0002634	HP:0002621	Atherosclerosis	1	GGCX CL E G H	2677	4247	ORPHA:91135	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	HP:0040282 - Frequent	129
HP:0002634	HP:0002621	Atherosclerosis	1	GGCX CL E G H	2677	4247	OMIM:610842	PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY		129
HP:0002634	HP:0002621	Atherosclerosis	1	GHR CL E G H	2690	4263	OMIM:143890	Hypercholesterolemia, familial, 1		98
HP:0002634	HP:0002621	Atherosclerosis	1	GLB1 CL E G H	2720	4298	OMIM:230650	Gm1-gangliosidosis, type III		120
HP:0002634	HP:0002621	Atherosclerosis	1	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0002634	HP:0002621	Atherosclerosis	1	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection
HP:0002634	HP:0002621	Atherosclerosis	1	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria	HP:0040283 - Occasional	77
HP:0002634	HP:0002621	Atherosclerosis	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis		2
HP:0002634	HP:0004931	Arteriosclerosis of small cerebral arteries	1	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)	.	34
HP:0002634	HP:0002621	Atherosclerosis	1	LCAT CL E G H	3931	6522	ORPHA:79292	Fish-eye disease	HP:0040283 - Occasional	26
HP:0002634	HP:0002621	Atherosclerosis	1	LCAT CL E G H	3931	6522	OMIM:245900	Lecithin:cholesterol acyltransferase deficiency		26
HP:0002634	HP:0005177	Premature arteriosclerosis	1	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040281 - Very frequent	2157
HP:0002634	HP:0002621	Atherosclerosis	1	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia		2157
HP:0002634	HP:0002621	Atherosclerosis	1	LDLR CL E G H	3949	6547	OMIM:143890	Hypercholesterolemia, familial, 1		2157
HP:0002634	HP:0005177	Premature arteriosclerosis	1	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040281 - Very frequent	73
HP:0002634	HP:0002621	Atherosclerosis	1	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia		73
HP:0002634	HP:0002621	Atherosclerosis	1	LDLRAP1 CL E G H	26119	18640	OMIM:603813	Hypercholesterolemia, autosomal recessive	.	73
HP:0002634	HP:0002621	Atherosclerosis	1	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0002634	HP:0002621	Atherosclerosis	1	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease		73
HP:0002634	HP:0002621	Atherosclerosis	1	LIPC CL E G H	3990	6619	ORPHA:140905	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency		35
HP:0002634	HP:0002621	Atherosclerosis	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome		645
HP:0002634	HP:0005177	Premature arteriosclerosis	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0002634	HP:0002621	Atherosclerosis	1	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040282 - Frequent	645
HP:0002634	HP:0002621	Atherosclerosis	1	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040282 - Frequent	645
HP:0002634	HP:0002621	Atherosclerosis	1	LMNA CL E G H	4000	6636	ORPHA:79084	Familial partial lipodystrophy, Köbberling type		645
HP:0002634	HP:0002621	Atherosclerosis	1	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome		645
HP:0002634	HP:0002621	Atherosclerosis	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	645
HP:0002634	HP:0002621	Atherosclerosis	1	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.	645
HP:0002634	HP:0002621	Atherosclerosis	1	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome		645
HP:0002634	HP:0002621	Atherosclerosis	1	LOX CL E G H	4015	6664	OMIM:617168	Aortic aneurysm, familial thoracic 10		6
HP:0002634	HP:0002621	Atherosclerosis	1	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		6
HP:0002634	HP:0002621	Atherosclerosis	1	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2		26
HP:0002634	HP:0002621	Atherosclerosis	1	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		13
HP:0002634	HP:0002621	Atherosclerosis	1	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		11
HP:0002634	HP:0002621	Atherosclerosis	1	MYH11 CL E G H	4629	7569	OMIM:132900	Aortic aneurysm, familial thoracic 4		418
HP:0002634	HP:0002621	Atherosclerosis	1	MYH11 CL E G H	4629	7569	ORPHA:229	Familial aortic dissection		418
HP:0002634	HP:0002621	Atherosclerosis	1	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		418
HP:0002634	HP:0002621	Atherosclerosis	1	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		326
HP:0002634	HP:0002621	Atherosclerosis	1	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency		43
HP:0002634	HP:0002621	Atherosclerosis	1	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1		258
HP:0002634	HP:0002621	Atherosclerosis	1	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2		33
HP:0002634	HP:0005177	Premature arteriosclerosis	1	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040281 - Very frequent	178
HP:0002634	HP:0002621	Atherosclerosis	1	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia		178
HP:0002634	HP:0002621	Atherosclerosis	1	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0002634	HP:0002621	Atherosclerosis	1	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy		65
HP:0002634	HP:0002621	Atherosclerosis	1	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040282 - Frequent	42
HP:0002634	HP:0002621	Atherosclerosis	1	PPP1R17 CL E G H	10842	16973	OMIM:143890	Hypercholesterolemia, familial, 1		2
HP:0002634	HP:0002621	Atherosclerosis	1	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		41
HP:0002634	HP:0002621	Atherosclerosis	1	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0002634	HP:0002621	Atherosclerosis	1	SERPIND1 CL E G H	3053	4838	OMIM:612356	Heparin cofactor II deficiency		5
HP:0002634	HP:0002621	Atherosclerosis	1	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		7
HP:0002634	HP:0002621	Atherosclerosis	1	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		260
HP:0002634	HP:0002621	Atherosclerosis	1	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		504
HP:0002634	HP:0004931	Arteriosclerosis of small cerebral arteries	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040283 - Occasional	74
HP:0002634	HP:0002621	Atherosclerosis	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent	74
HP:0002634	HP:0002621	Atherosclerosis	1	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B		164
HP:0002634	HP:0002621	Atherosclerosis	1	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A		164
HP:0002634	HP:0002621	Atherosclerosis	1	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B		164
HP:0002634	HP:0002621	Atherosclerosis	1	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		162
HP:0002634	HP:0002621	Atherosclerosis	1	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		85
HP:0002634	HP:0002621	Atherosclerosis	1	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		239
HP:0002634	HP:0002621	Atherosclerosis	1	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		253
HP:0002634	HP:0002621	Atherosclerosis	1	TGFBR3 CL E G H	7049	11774	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040282 - Frequent	1
HP:0002634	HP:0002621	Atherosclerosis	1	THSD1 CL E G H	55901	17754	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040282 - Frequent	2
HP:0002634	HP:0002621	Atherosclerosis	1	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1		134
HP:0002634	HP:0002621	Atherosclerosis	1	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040282 - Frequent	310
HP:0002634	HP:0005177	Premature arteriosclerosis	1	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome	.	310
HP:0002634	HP:0002621	Atherosclerosis	1	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		14
HP:0002634	HP:0002621	Atherosclerosis	1	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		5
HP:0002634	HP:0002621	Atherosclerosis	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	83
HP:0002634	HP:0002621	Atherosclerosis	1	ZNF687 CL E G H	57592	29277	OMIM:616833	Paget disease of bone 6		2
HP:0002634	HP:0031012	Thin-cap fibroatheroma	2	CL E G H
HP:0002634	HP:0031011	Fatty streak	2	CL E G H
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	ABCA1 CL E G H	19	29	ORPHA:425	Apolipoprotein A-I deficiency		191
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	ABCA1 CL E G H	19	29	OMIM:604091	HYPOALPHALIPOPROTEINEMIA, PRIMARY		191
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease	.	191
HP:0002634	HP:0004943	Accelerated atherosclerosis	2	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease	HP:0040282 - Frequent	191
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		415
HP:0002634	HP:0004943	Accelerated atherosclerosis	2	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		415
HP:0002634	HP:0004416	Precocious atherosclerosis	2	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040281 - Very frequent	67
HP:0002634	HP:0007201	Cerebral artery atherosclerosis	2	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	67
HP:0002634	HP:0012397	Aortic atherosclerotic lesion	2	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	67
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	67
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	ABCG5 CL E G H	64240	13886	OMIM:618666	SITOSTEROLEMIA 2; STSL2		67
HP:0002634	HP:0012397	Aortic atherosclerotic lesion	2	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	76
HP:0002634	HP:0007201	Cerebral artery atherosclerosis	2	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	76
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	76
HP:0002634	HP:0004416	Precocious atherosclerosis	2	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040281 - Very frequent	76
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1	.	76
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	ACTA2 CL E G H	59	130	OMIM:611788	AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6		94
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	94
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	APOA1 CL E G H	335	600	ORPHA:425	Apolipoprotein A-I deficiency		40
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	APOA1 CL E G H	335	600	OMIM:618463	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2		40
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	APOA2 CL E G H	336	601	OMIM:143890	Hypercholesterolemia, familial, 1		9
HP:0002634	HP:0004416	Precocious atherosclerosis	2	APOA5 CL E G H	116519	17288	OMIM:145750	Hypertriglyceridemia, familial	.	7
HP:0002634	HP:0007201	Cerebral artery atherosclerosis	2	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	356
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	356
HP:0002634	HP:0004416	Precocious atherosclerosis	2	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040281 - Very frequent	356
HP:0002634	HP:0012397	Aortic atherosclerotic lesion	2	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	356
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	APOB CL E G H	338	603	OMIM:144010	Hypercholesterolemia, familial, 2		356
HP:0002634	HP:0031678	Atherosclerotic lesion	2	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia		39
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia		39
HP:0002634	HP:0004943	Accelerated atherosclerosis	2	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia	HP:0040283 - Occasional	39
HP:0002634	HP:0012397	Aortic atherosclerotic lesion	2	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia	HP:0040283 - Occasional	39
HP:0002634	HP:0003651	Foam cells	2	APOE CL E G H	348	613	OMIM:269600	Sea-Blue histiocyte disease		39
HP:0002634	HP:0003651	Foam cells	2	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease		78
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	HP:0040283 - Occasional	8
HP:0002634	HP:0004943	Accelerated atherosclerosis	2	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4		1
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4		1
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure		1
HP:0002634	HP:0003651	Foam cells	2	CSF2RA CL E G H	1438	2435	ORPHA:264675	Hereditary pulmonary alveolar proteinosis	HP:0040283 - Occasional	15
HP:0002634	HP:0003651	Foam cells	2	CSF2RB CL E G H	1439	2436	ORPHA:264675	Hereditary pulmonary alveolar proteinosis	HP:0040283 - Occasional	17
HP:0002634	HP:0004416	Precocious atherosclerosis	2	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional	114
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis		114
HP:0002634	HP:0004943	Accelerated atherosclerosis	2	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	HP:0040282 - Frequent	11
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	HP:0040282 - Frequent	11
HP:0002634	HP:0012397	Aortic atherosclerotic lesion	2	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	HP:0040282 - Frequent	11
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	172
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	EPHX2 CL E G H	2053	3402	OMIM:143890	Hypercholesterolemia, familial, 1		1
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome	HP:0040282 - Frequent	13
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	1361
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	23
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	GHR CL E G H	2690	4263	OMIM:143890	Hypercholesterolemia, familial, 1		98
HP:0002634	HP:0003651	Foam cells	2	GLB1 CL E G H	2720	4298	OMIM:230650	Gm1-gangliosidosis, type III	.	120
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent
HP:0002634	HP:0003651	Foam cells	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:747	Autoimmune pulmonary alveolar proteinosis	HP:0040282 - Frequent	2
HP:0002634	HP:0003651	Foam cells	2	LCAT CL E G H	3931	6522	OMIM:245900	Lecithin:cholesterol acyltransferase deficiency	.	26
HP:0002634	HP:0012397	Aortic atherosclerotic lesion	2	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	2157
HP:0002634	HP:0007201	Cerebral artery atherosclerosis	2	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	2157
HP:0002634	HP:0004416	Precocious atherosclerosis	2	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040281 - Very frequent	2157
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	2157
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	LDLR CL E G H	3949	6547	OMIM:143890	Hypercholesterolemia, familial, 1		2157
HP:0002634	HP:0004416	Precocious atherosclerosis	2	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040281 - Very frequent	73
HP:0002634	HP:0012397	Aortic atherosclerotic lesion	2	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	73
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	73
HP:0002634	HP:0007201	Cerebral artery atherosclerosis	2	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	73
HP:0002634	HP:0003651	Foam cells	2	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0002634	HP:0003651	Foam cells	2	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease		73
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	LIPC CL E G H	3990	6619	ORPHA:140905	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency		35
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040283 - Occasional	645
HP:0002634	HP:0004416	Precocious atherosclerosis	2	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040282 - Frequent	645
HP:0002634	HP:0004943	Accelerated atherosclerosis	2	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040282 - Frequent	645
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040283 - Occasional	645
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	LMNA CL E G H	4000	6636	ORPHA:79084	Familial partial lipodystrophy, Köbberling type	HP:0040283 - Occasional	645
HP:0002634	HP:0004416	Precocious atherosclerosis	2	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome	.	645
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome		645
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent	645
HP:0002634	HP:0012397	Aortic atherosclerotic lesion	2	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent	645
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	LOX CL E G H	4015	6664	OMIM:617168	Aortic aneurysm, familial thoracic 10	HP:0040283 - Occasional	6
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	6
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2		26
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	13
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	11
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	MYH11 CL E G H	4629	7569	OMIM:132900	Aortic aneurysm, familial thoracic 4		418
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	MYH11 CL E G H	4629	7569	ORPHA:229	Familial aortic dissection	HP:0040282 - Frequent	418
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	418
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	326
HP:0002634	HP:0003651	Foam cells	2	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency		43
HP:0002634	HP:0003651	Foam cells	2	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1	.	258
HP:0002634	HP:0003651	Foam cells	2	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2	.	33
HP:0002634	HP:0004416	Precocious atherosclerosis	2	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040281 - Very frequent	178
HP:0002634	HP:0007201	Cerebral artery atherosclerosis	2	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	178
HP:0002634	HP:0012397	Aortic atherosclerotic lesion	2	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	178
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	178
HP:0002634	HP:0003651	Foam cells	2	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy	HP:0040282 - Frequent	65
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040283 - Occasional	42
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	PPP1R17 CL E G H	10842	16973	OMIM:143890	Hypercholesterolemia, familial, 1		2
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	41
HP:0002634	HP:0003651	Foam cells	2	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	SERPIND1 CL E G H	3053	4838	OMIM:612356	Heparin cofactor II deficiency		5
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	7
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	260
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	504
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040284 - Very rare	164
HP:0002634	HP:0003651	Foam cells	2	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A		164
HP:0002634	HP:0003651	Foam cells	2	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B		164
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	162
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	85
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	239
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	253
HP:0002634	HP:0004416	Precocious atherosclerosis	2	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1	HP:0040283 - Occasional	134
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		14
HP:0002634	HP:0004943	Accelerated atherosclerosis	2	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		14
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		5
HP:0002634	HP:0004943	Accelerated atherosclerosis	2	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		5
HP:0002634	HP:0001677	Coronary artery atherosclerosis	2	ZNF687 CL E G H	57592	29277	OMIM:616833	Paget disease of bone 6	HP:0040283 - Occasional	2
HP:0002634	HP:0031683	Type VI atherosclerotic lesion	3	CL E G H
HP:0002634	HP:0012436	Nonocclusive coronary artery atherosclerosis	3	CL E G H
HP:0002634	HP:0031682	Type V atherosclerotic lesion	3	CL E G H
HP:0002634	HP:0031681	Type III atherosclerotic lesion	3	CL E G H
HP:0002634	HP:0031680	Type II atherosclerotic lesion	3	CL E G H
HP:0002634	HP:0031679	Type I atherosclerotic lesion	3	CL E G H
HP:0002634	HP:0032583	Renal glomerular foam cells	3	CL E G H
HP:0002634	HP:0032582	Renal interstitial foam cells	3	CL E G H
HP:0002634	HP:0005181	Premature coronary artery atherosclerosis	3	ABCA1 CL E G H	19	29	ORPHA:425	Apolipoprotein A-I deficiency		191
HP:0002634	HP:0005181	Premature coronary artery atherosclerosis	3	ABCA1 CL E G H	19	29	OMIM:604091	HYPOALPHALIPOPROTEINEMIA, PRIMARY		191
HP:0002634	HP:0005181	Premature coronary artery atherosclerosis	3	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	67
HP:0002634	HP:0005181	Premature coronary artery atherosclerosis	3	ABCG5 CL E G H	64240	13886	OMIM:618666	SITOSTEROLEMIA 2; STSL2		67
HP:0002634	HP:0005181	Premature coronary artery atherosclerosis	3	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	76
HP:0002634	HP:0005181	Premature coronary artery atherosclerosis	3	ACTA2 CL E G H	59	130	OMIM:611788	AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6		94
HP:0002634	HP:0005181	Premature coronary artery atherosclerosis	3	APOA1 CL E G H	335	600	ORPHA:425	Apolipoprotein A-I deficiency		40
HP:0002634	HP:0005181	Premature coronary artery atherosclerosis	3	APOA1 CL E G H	335	600	OMIM:618463	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2		40
HP:0002634	HP:0005181	Premature coronary artery atherosclerosis	3	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	356
HP:0002634	HP:0002635	Type IV atherosclerotic lesion	3	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia	HP:0040282 - Frequent	39
HP:0002634	HP:0005181	Premature coronary artery atherosclerosis	3	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia	HP:0040283 - Occasional	39
HP:0002634	HP:0003640	CNS foam cells	3	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040282 - Frequent	78
HP:0002634	HP:0005181	Premature coronary artery atherosclerosis	3	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure		1
HP:0002634	HP:0005181	Premature coronary artery atherosclerosis	3	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional	114
HP:0002634	HP:0005181	Premature coronary artery atherosclerosis	3	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent	199
HP:0002634	HP:0005181	Premature coronary artery atherosclerosis	3	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent	55
HP:0002634	HP:0005181	Premature coronary artery atherosclerosis	3	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0002634	HP:0005181	Premature coronary artery atherosclerosis	3	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	2157
HP:0002634	HP:0005181	Premature coronary artery atherosclerosis	3	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	73
HP:0002634	HP:0004333	Bone-marrow foam cells	3	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency	.	73
HP:0002634	HP:0034029	Hepatic foam cells	3	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0002634	HP:0004333	Bone-marrow foam cells	3	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease	HP:0040283 - Occasional	73
HP:0002634	HP:0005181	Premature coronary artery atherosclerosis	3	LIPC CL E G H	3990	6619	ORPHA:140905	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency	HP:0040282 - Frequent	35
HP:0002634	HP:0005181	Premature coronary artery atherosclerosis	3	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome	.	645
HP:0002634	HP:0005181	Premature coronary artery atherosclerosis	3	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2		26
HP:0002634	HP:0004333	Bone-marrow foam cells	3	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.	43
HP:0002634	HP:0003640	CNS foam cells	3	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1		258
HP:0002634	HP:0004333	Bone-marrow foam cells	3	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1	.	258
HP:0002634	HP:0004333	Bone-marrow foam cells	3	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2	.	33
HP:0002634	HP:0003640	CNS foam cells	3	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2		33
HP:0002634	HP:0005181	Premature coronary artery atherosclerosis	3	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	178
HP:0002634	HP:0003609	Foam cells with lamellar inclusion bodies	3	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0002634	HP:0004761	Post-angioplasty coronary artery restenosis	3	SERPIND1 CL E G H	3053	4838	OMIM:612356	Heparin cofactor II deficiency	.	5
HP:0002634	HP:0003609	Foam cells with lamellar inclusion bodies	3	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A	.	164
HP:0002634	HP:0004333	Bone-marrow foam cells	3	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A	.	164
HP:0002634	HP:0004333	Bone-marrow foam cells	3	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B	.	164
HP:0002634	HP:0003609	Foam cells with lamellar inclusion bodies	3	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B	.	164