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:0100545	HP:0100545	Arterial stenosis	0	ABCA1 CL E G H	19	29	ORPHA:425	Apolipoprotein A-I deficiency		191
HP:0100545	HP:0100545	Arterial stenosis	0	ABCA1 CL E G H	19	29	OMIM:604091	HYPOALPHALIPOPROTEINEMIA, PRIMARY		191
HP:0100545	HP:0100545	Arterial stenosis	0	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease		191
HP:0100545	HP:0100545	Arterial stenosis	0	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease		191
HP:0100545	HP:0100545	Arterial stenosis	0	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040281 - Very frequent	415
HP:0100545	HP:0100545	Arterial stenosis	0	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste		415
HP:0100545	HP:0100545	Arterial stenosis	0	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		415
HP:0100545	HP:0100545	Arterial stenosis	0	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia		67
HP:0100545	HP:0100545	Arterial stenosis	0	ABCG5 CL E G H	64240	13886	OMIM:618666	SITOSTEROLEMIA 2; STSL2		67
HP:0100545	HP:0100545	Arterial stenosis	0	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia		76
HP:0100545	HP:0100545	Arterial stenosis	0	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1		76
HP:0100545	HP:0100545	Arterial stenosis	0	ACTA2 CL E G H	59	130	OMIM:611788	AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6		94
HP:0100545	HP:0100545	Arterial stenosis	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		94
HP:0100545	HP:0100545	Arterial stenosis	0	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome	HP:0040281 - Very frequent	22
HP:0100545	HP:0100545	Arterial stenosis	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0100545	HP:0100545	Arterial stenosis	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0100545	HP:0100545	Arterial stenosis	0	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I		260
HP:0100545	HP:0100545	Arterial stenosis	0	APOA1 CL E G H	335	600	ORPHA:425	Apolipoprotein A-I deficiency		40
HP:0100545	HP:0100545	Arterial stenosis	0	APOA1 CL E G H	335	600	OMIM:618463	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2		40
HP:0100545	HP:0100545	Arterial stenosis	0	APOA2 CL E G H	336	601	OMIM:143890	Hypercholesterolemia, familial, 1		9
HP:0100545	HP:0100545	Arterial stenosis	0	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia		356
HP:0100545	HP:0100545	Arterial stenosis	0	APOB CL E G H	338	603	OMIM:144010	Hypercholesterolemia, familial, 2		356
HP:0100545	HP:0100545	Arterial stenosis	0	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia		39
HP:0100545	HP:0100545	Arterial stenosis	0	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional	1
HP:0100545	HP:0100545	Arterial stenosis	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040282 - Frequent	192
HP:0100545	HP:0100545	Arterial stenosis	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0100545	HP:0100545	Arterial stenosis	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0100545	HP:0100545	Arterial stenosis	0	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY		182
HP:0100545	HP:0100545	Arterial stenosis	0	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome		8
HP:0100545	HP:0100545	Arterial stenosis	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0100545	HP:0100545	Arterial stenosis	0	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4		1
HP:0100545	HP:0100545	Arterial stenosis	0	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure		1
HP:0100545	HP:0100545	Arterial stenosis	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0100545	HP:0100545	Arterial stenosis	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0100545	HP:0100545	Arterial stenosis	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis		114
HP:0100545	HP:0100545	Arterial stenosis	0	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency		11
HP:0100545	HP:0100545	Arterial stenosis	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0100545	HP:0100545	Arterial stenosis	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0100545	HP:0100545	Arterial stenosis	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		172
HP:0100545	HP:0100545	Arterial stenosis	0	ELN CL E G H	2006	3327	OMIM:185500	Supravalvular aortic stenosis		172
HP:0100545	HP:0100545	Arterial stenosis	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	172
HP:0100545	HP:0100545	Arterial stenosis	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0100545	HP:0100545	Arterial stenosis	0	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1	.	151
HP:0100545	HP:0100545	Arterial stenosis	0	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040281 - Very frequent	151
HP:0100545	HP:0100545	Arterial stenosis	0	EPHX2 CL E G H	2053	3402	OMIM:143890	Hypercholesterolemia, familial, 1		1
HP:0100545	HP:0100545	Arterial stenosis	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0100545	HP:0100545	Arterial stenosis	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0100545	HP:0100545	Arterial stenosis	0	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome		13
HP:0100545	HP:0100545	Arterial stenosis	0	F12 CL E G H	2161	3530	ORPHA:330	Congenital factor XII deficiency		28
HP:0100545	HP:0100545	Arterial stenosis	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		1361
HP:0100545	HP:0100545	Arterial stenosis	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0100545	HP:0100545	Arterial stenosis	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0100545	HP:0100545	Arterial stenosis	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		23
HP:0100545	HP:0100545	Arterial stenosis	0	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities		1
HP:0100545	HP:0100545	Arterial stenosis	0	GHR CL E G H	2690	4263	OMIM:143890	Hypercholesterolemia, familial, 1		98
HP:0100545	HP:0100545	Arterial stenosis	0	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional	16
HP:0100545	HP:0100545	Arterial stenosis	0	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0100545	HP:0100545	Arterial stenosis	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0100545	HP:0100545	Arterial stenosis	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0100545	HP:0100545	Arterial stenosis	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0100545	HP:0100545	Arterial stenosis	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection
HP:0100545	HP:0100545	Arterial stenosis	0	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent	4
HP:0100545	HP:0100545	Arterial stenosis	0	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0100545	HP:0100545	Arterial stenosis	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form		86
HP:0100545	HP:0100545	Arterial stenosis	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form		86
HP:0100545	HP:0100545	Arterial stenosis	0	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent	31
HP:0100545	HP:0100545	Arterial stenosis	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0100545	HP:0100545	Arterial stenosis	0	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis		57
HP:0100545	HP:0100545	Arterial stenosis	0	KIF1B CL E G H	23095	16636	OMIM:171300	PHEOCHROMOCYTOMA		202
HP:0100545	HP:0100545	Arterial stenosis	0	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia		2157
HP:0100545	HP:0100545	Arterial stenosis	0	LDLR CL E G H	3949	6547	OMIM:143890	Hypercholesterolemia, familial, 1		2157
HP:0100545	HP:0100545	Arterial stenosis	0	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia		73
HP:0100545	HP:0100545	Arterial stenosis	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0100545	HP:0100545	Arterial stenosis	0	LIPC CL E G H	3990	6619	ORPHA:140905	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency		35
HP:0100545	HP:0100545	Arterial stenosis	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome		645
HP:0100545	HP:0100545	Arterial stenosis	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy		645
HP:0100545	HP:0100545	Arterial stenosis	0	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type		645
HP:0100545	HP:0100545	Arterial stenosis	0	LMNA CL E G H	4000	6636	ORPHA:79084	Familial partial lipodystrophy, Köbberling type		645
HP:0100545	HP:0100545	Arterial stenosis	0	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome		645
HP:0100545	HP:0100545	Arterial stenosis	0	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome		645
HP:0100545	HP:0100545	Arterial stenosis	0	LOX CL E G H	4015	6664	OMIM:617168	Aortic aneurysm, familial thoracic 10		6
HP:0100545	HP:0100545	Arterial stenosis	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		6
HP:0100545	HP:0100545	Arterial stenosis	0	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2		26
HP:0100545	HP:0100545	Arterial stenosis	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		13
HP:0100545	HP:0100545	Arterial stenosis	0	MAX CL E G H	4149	6913	OMIM:171300	PHEOCHROMOCYTOMA		84
HP:0100545	HP:0100545	Arterial stenosis	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0100545	HP:0100545	Arterial stenosis	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		11
HP:0100545	HP:0100545	Arterial stenosis	0	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent
HP:0100545	HP:0100545	Arterial stenosis	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0100545	HP:0100545	Arterial stenosis	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0100545	HP:0100545	Arterial stenosis	0	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis		97
HP:0100545	HP:0100545	Arterial stenosis	0	MYH11 CL E G H	4629	7569	OMIM:132900	Aortic aneurysm, familial thoracic 4		418
HP:0100545	HP:0100545	Arterial stenosis	0	MYH11 CL E G H	4629	7569	ORPHA:229	Familial aortic dissection		418
HP:0100545	HP:0100545	Arterial stenosis	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		418
HP:0100545	HP:0100545	Arterial stenosis	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		326
HP:0100545	HP:0100545	Arterial stenosis	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	13
HP:0100545	HP:0100545	Arterial stenosis	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0100545	HP:0100545	Arterial stenosis	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0100545	HP:0100545	Arterial stenosis	0	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040283 - Occasional	144
HP:0100545	HP:0100545	Arterial stenosis	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040283 - Occasional	531
HP:0100545	HP:0100545	Arterial stenosis	0	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia		178
HP:0100545	HP:0100545	Arterial stenosis	0	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy		65
HP:0100545	HP:0100545	Arterial stenosis	0	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome		40
HP:0100545	HP:0100545	Arterial stenosis	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy		42
HP:0100545	HP:0100545	Arterial stenosis	0	PPP1R17 CL E G H	10842	16973	OMIM:143890	Hypercholesterolemia, familial, 1		2
HP:0100545	HP:0100545	Arterial stenosis	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		41
HP:0100545	HP:0100545	Arterial stenosis	0	RET CL E G H	5979	9967	OMIM:171300	PHEOCHROMOCYTOMA		572
HP:0100545	HP:0100545	Arterial stenosis	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0100545	HP:0100545	Arterial stenosis	0	SDHB CL E G H	6390	10681	OMIM:171300	PHEOCHROMOCYTOMA		237
HP:0100545	HP:0100545	Arterial stenosis	0	SDHD CL E G H	6392	10683	OMIM:171300	PHEOCHROMOCYTOMA		129
HP:0100545	HP:0100545	Arterial stenosis	0	SERPIND1 CL E G H	3053	4838	OMIM:612356	Heparin cofactor II deficiency		5
HP:0100545	HP:0100545	Arterial stenosis	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040281 - Very frequent	178
HP:0100545	HP:0100545	Arterial stenosis	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		7
HP:0100545	HP:0100545	Arterial stenosis	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		260
HP:0100545	HP:0100545	Arterial stenosis	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		504
HP:0100545	HP:0100545	Arterial stenosis	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B		164
HP:0100545	HP:0100545	Arterial stenosis	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0100545	HP:0100545	Arterial stenosis	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0100545	HP:0100545	Arterial stenosis	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0100545	HP:0100545	Arterial stenosis	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		162
HP:0100545	HP:0100545	Arterial stenosis	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		85
HP:0100545	HP:0100545	Arterial stenosis	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		239
HP:0100545	HP:0100545	Arterial stenosis	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		253
HP:0100545	HP:0100545	Arterial stenosis	0	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis		23
HP:0100545	HP:0100545	Arterial stenosis	0	TMEM127 CL E G H	55654	26038	OMIM:171300	PHEOCHROMOCYTOMA		131
HP:0100545	HP:0100545	Arterial stenosis	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0100545	HP:0100545	Arterial stenosis	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0100545	HP:0100545	Arterial stenosis	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0100545	HP:0100545	Arterial stenosis	0	VHL CL E G H	7428	12687	OMIM:171300	PHEOCHROMOCYTOMA		490
HP:0100545	HP:0100545	Arterial stenosis	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0100545	HP:0100545	Arterial stenosis	0	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		14
HP:0100545	HP:0100545	Arterial stenosis	0	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		5
HP:0100545	HP:0100545	Arterial stenosis	0	YY1AP1 CL E G H	55249	30935	ORPHA:79094	Grange syndrome	HP:0040281 - Very frequent	5
HP:0100545	HP:0100545	Arterial stenosis	0	YY1AP1 CL E G H	55249	30935	OMIM:602531	Grange syndrome		5
HP:0100545	HP:0100545	Arterial stenosis	0	ZNF687 CL E G H	57592	29277	OMIM:616833	Paget disease of bone 6		2
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	ABCA1 CL E G H	19	29	ORPHA:425	Apolipoprotein A-I deficiency		191
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	ABCA1 CL E G H	19	29	OMIM:604091	HYPOALPHALIPOPROTEINEMIA, PRIMARY		191
HP:0100545	HP:0100546	Carotid artery stenosis	1	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease	HP:0040283 - Occasional	191
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease	.	191
HP:0100545	HP:0004950	Peripheral arterial stenosis	1	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste		415
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		415
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	67
HP:0100545	HP:0001920	Renal artery stenosis	1	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	67
HP:0100545	HP:0004950	Peripheral arterial stenosis	1	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	67
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	ABCG5 CL E G H	64240	13886	OMIM:618666	SITOSTEROLEMIA 2; STSL2		67
HP:0100545	HP:0004950	Peripheral arterial stenosis	1	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	76
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	76
HP:0100545	HP:0001920	Renal artery stenosis	1	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	76
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1	.	76
HP:0100545	HP:0100546	Carotid artery stenosis	1	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1		76
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	ACTA2 CL E G H	59	130	OMIM:611788	AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6		94
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	94
HP:0100545	HP:0004950	Peripheral arterial stenosis	1	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	94
HP:0100545	HP:0100546	Carotid artery stenosis	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0100545	HP:0100546	Carotid artery stenosis	1	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0100545	HP:0004950	Peripheral arterial stenosis	1	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I	.	260
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	APOA1 CL E G H	335	600	ORPHA:425	Apolipoprotein A-I deficiency		40
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	APOA1 CL E G H	335	600	OMIM:618463	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2		40
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	APOA2 CL E G H	336	601	OMIM:143890	Hypercholesterolemia, familial, 1		9
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	356
HP:0100545	HP:0001920	Renal artery stenosis	1	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	356
HP:0100545	HP:0004950	Peripheral arterial stenosis	1	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	356
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	APOB CL E G H	338	603	OMIM:144010	Hypercholesterolemia, familial, 2		356
HP:0100545	HP:0004950	Peripheral arterial stenosis	1	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia	HP:0040283 - Occasional	39
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia		39
HP:0100545	HP:0007985	Retinal arteriolar occlusion	1	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY	.	182
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	HP:0040283 - Occasional	8
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	CELA2A CL E G H	63036	24609	OMIM:618620	ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS4		1
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure		1
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis		114
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	HP:0040282 - Frequent	11
HP:0100545	HP:0004950	Peripheral arterial stenosis	1	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	172
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	172
HP:0100545	HP:0004950	Peripheral arterial stenosis	1	ELN CL E G H	2006	3327	OMIM:185500	Supravalvular aortic stenosis	.	172
HP:0100545	HP:0001920	Renal artery stenosis	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0100545	HP:0001920	Renal artery stenosis	1	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1		151
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	EPHX2 CL E G H	2053	3402	OMIM:143890	Hypercholesterolemia, familial, 1		1
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome	HP:0040282 - Frequent	13
HP:0100545	HP:0007985	Retinal arteriolar occlusion	1	F12 CL E G H	2161	3530	ORPHA:330	Congenital factor XII deficiency	HP:0040283 - Occasional	28
HP:0100545	HP:0004950	Peripheral arterial stenosis	1	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	1361
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	1361
HP:0100545	HP:0001920	Renal artery stenosis	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	111
HP:0100545	HP:0004950	Peripheral arterial stenosis	1	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	23
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	23
HP:0100545	HP:0001920	Renal artery stenosis	1	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities		1
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	GHR CL E G H	2690	4263	OMIM:143890	Hypercholesterolemia, familial, 1		98
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0100545	HP:0004950	Peripheral arterial stenosis	1	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent
HP:0100545	HP:0100546	Carotid artery stenosis	1	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0100545	HP:0004950	Peripheral arterial stenosis	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional	86
HP:0100545	HP:0004950	Peripheral arterial stenosis	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional	86
HP:0100545	HP:0001920	Renal artery stenosis	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1		257
HP:0100545	HP:0004950	Peripheral arterial stenosis	1	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis	HP:0040282 - Frequent	57
HP:0100545	HP:0001920	Renal artery stenosis	1	KIF1B CL E G H	23095	16636	OMIM:171300	PHEOCHROMOCYTOMA	.	202
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	2157
HP:0100545	HP:0004950	Peripheral arterial stenosis	1	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	2157
HP:0100545	HP:0001920	Renal artery stenosis	1	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	2157
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	LDLR CL E G H	3949	6547	OMIM:143890	Hypercholesterolemia, familial, 1		2157
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	73
HP:0100545	HP:0001920	Renal artery stenosis	1	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	73
HP:0100545	HP:0004950	Peripheral arterial stenosis	1	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	73
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	LIPC CL E G H	3990	6619	ORPHA:140905	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency		35
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0100545	HP:0004950	Peripheral arterial stenosis	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040283 - Occasional	645
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040283 - Occasional	645
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	LMNA CL E G H	4000	6636	ORPHA:79084	Familial partial lipodystrophy, Köbberling type	HP:0040283 - Occasional	645
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome		645
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent	645
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	LOX CL E G H	4015	6664	OMIM:617168	Aortic aneurysm, familial thoracic 10	HP:0040283 - Occasional	6
HP:0100545	HP:0004950	Peripheral arterial stenosis	1	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	6
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	6
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2		26
HP:0100545	HP:0004950	Peripheral arterial stenosis	1	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	13
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	13
HP:0100545	HP:0001920	Renal artery stenosis	1	MAX CL E G H	4149	6913	OMIM:171300	PHEOCHROMOCYTOMA	.	84
HP:0100545	HP:0004950	Peripheral arterial stenosis	1	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	11
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	11
HP:0100545	HP:0001920	Renal artery stenosis	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0100545	HP:0004950	Peripheral arterial stenosis	1	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis	HP:0040282 - Frequent	97
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	MYH11 CL E G H	4629	7569	OMIM:132900	Aortic aneurysm, familial thoracic 4		418
HP:0100545	HP:0100546	Carotid artery stenosis	1	MYH11 CL E G H	4629	7569	OMIM:132900	Aortic aneurysm, familial thoracic 4		418
HP:0100545	HP:0004950	Peripheral arterial stenosis	1	MYH11 CL E G H	4629	7569	ORPHA:229	Familial aortic dissection	HP:0040283 - Occasional	418
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	MYH11 CL E G H	4629	7569	ORPHA:229	Familial aortic dissection	HP:0040282 - Frequent	418
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	418
HP:0100545	HP:0004950	Peripheral arterial stenosis	1	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	418
HP:0100545	HP:0004950	Peripheral arterial stenosis	1	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	326
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	326
HP:0100545	HP:0001920	Renal artery stenosis	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional	1952
HP:0100545	HP:0001920	Renal artery stenosis	1	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	178
HP:0100545	HP:0004950	Peripheral arterial stenosis	1	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	178
HP:0100545	HP:0001920	Renal artery stenosis	1	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	178
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy	HP:0040282 - Frequent	65
HP:0100545	HP:0001920	Renal artery stenosis	1	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040283 - Occasional	40
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040283 - Occasional	42
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	PPP1R17 CL E G H	10842	16973	OMIM:143890	Hypercholesterolemia, familial, 1		2
HP:0100545	HP:0004950	Peripheral arterial stenosis	1	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	41
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	41
HP:0100545	HP:0001920	Renal artery stenosis	1	RET CL E G H	5979	9967	OMIM:171300	PHEOCHROMOCYTOMA	.	572
HP:0100545	HP:0001920	Renal artery stenosis	1	SDHB CL E G H	6390	10681	OMIM:171300	PHEOCHROMOCYTOMA	.	237
HP:0100545	HP:0001920	Renal artery stenosis	1	SDHD CL E G H	6392	10683	OMIM:171300	PHEOCHROMOCYTOMA	.	129
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	SERPIND1 CL E G H	3053	4838	OMIM:612356	Heparin cofactor II deficiency		5
HP:0100545	HP:0004950	Peripheral arterial stenosis	1	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	7
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	7
HP:0100545	HP:0004950	Peripheral arterial stenosis	1	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	260
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	260
HP:0100545	HP:0004950	Peripheral arterial stenosis	1	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	504
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	504
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040284 - Very rare	164
HP:0100545	HP:0001920	Renal artery stenosis	1	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent	89
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	162
HP:0100545	HP:0004950	Peripheral arterial stenosis	1	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	162
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	85
HP:0100545	HP:0004950	Peripheral arterial stenosis	1	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	85
HP:0100545	HP:0004950	Peripheral arterial stenosis	1	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	239
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	239
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	253
HP:0100545	HP:0004950	Peripheral arterial stenosis	1	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	253
HP:0100545	HP:0004950	Peripheral arterial stenosis	1	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis	HP:0040282 - Frequent	23
HP:0100545	HP:0001920	Renal artery stenosis	1	TMEM127 CL E G H	55654	26038	OMIM:171300	PHEOCHROMOCYTOMA	.	131
HP:0100545	HP:0001920	Renal artery stenosis	1	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent
HP:0100545	HP:0001920	Renal artery stenosis	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	6
HP:0100545	HP:0001920	Renal artery stenosis	1	VHL CL E G H	7428	12687	OMIM:171300	PHEOCHROMOCYTOMA	.	490
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		14
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		5
HP:0100545	HP:0001920	Renal artery stenosis	1	YY1AP1 CL E G H	55249	30935	OMIM:602531	Grange syndrome	.	5
HP:0100545	HP:0100546	Carotid artery stenosis	1	YY1AP1 CL E G H	55249	30935	OMIM:602531	Grange syndrome	.	5
HP:0100545	HP:0001677	Coronary artery atherosclerosis	1	ZNF687 CL E G H	57592	29277	OMIM:616833	Paget disease of bone 6	HP:0040283 - Occasional	2
HP:0100545	HP:0012436	Nonocclusive coronary artery atherosclerosis	2	CL E G H
HP:0100545	HP:0005181	Premature coronary artery atherosclerosis	2	ABCA1 CL E G H	19	29	ORPHA:425	Apolipoprotein A-I deficiency		191
HP:0100545	HP:0005181	Premature coronary artery atherosclerosis	2	ABCA1 CL E G H	19	29	OMIM:604091	HYPOALPHALIPOPROTEINEMIA, PRIMARY		191
HP:0100545	HP:0005297	Premature occlusive vascular stenosis	2	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste	.	415
HP:0100545	HP:0005181	Premature coronary artery atherosclerosis	2	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	67
HP:0100545	HP:0005181	Premature coronary artery atherosclerosis	2	ABCG5 CL E G H	64240	13886	OMIM:618666	SITOSTEROLEMIA 2; STSL2		67
HP:0100545	HP:0005181	Premature coronary artery atherosclerosis	2	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	76
HP:0100545	HP:0005181	Premature coronary artery atherosclerosis	2	ACTA2 CL E G H	59	130	OMIM:611788	AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6		94
HP:0100545	HP:0005181	Premature coronary artery atherosclerosis	2	APOA1 CL E G H	335	600	ORPHA:425	Apolipoprotein A-I deficiency		40
HP:0100545	HP:0005181	Premature coronary artery atherosclerosis	2	APOA1 CL E G H	335	600	OMIM:618463	HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2		40
HP:0100545	HP:0005181	Premature coronary artery atherosclerosis	2	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	356
HP:0100545	HP:0005181	Premature coronary artery atherosclerosis	2	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia	HP:0040283 - Occasional	39
HP:0100545	HP:0005181	Premature coronary artery atherosclerosis	2	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure		1
HP:0100545	HP:0005181	Premature coronary artery atherosclerosis	2	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional	114
HP:0100545	HP:0005181	Premature coronary artery atherosclerosis	2	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent	199
HP:0100545	HP:0005181	Premature coronary artery atherosclerosis	2	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent	55
HP:0100545	HP:0005181	Premature coronary artery atherosclerosis	2	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0100545	HP:0005181	Premature coronary artery atherosclerosis	2	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	2157
HP:0100545	HP:0005181	Premature coronary artery atherosclerosis	2	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	73
HP:0100545	HP:0005181	Premature coronary artery atherosclerosis	2	LIPC CL E G H	3990	6619	ORPHA:140905	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency	HP:0040282 - Frequent	35
HP:0100545	HP:0005181	Premature coronary artery atherosclerosis	2	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome	.	645
HP:0100545	HP:0005181	Premature coronary artery atherosclerosis	2	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2		26
HP:0100545	HP:0005181	Premature coronary artery atherosclerosis	2	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent	178
HP:0100545	HP:0004761	Post-angioplasty coronary artery restenosis	2	SERPIND1 CL E G H	3053	4838	OMIM:612356	Heparin cofactor II deficiency	.	5