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:0030163	HP:0030163	Abnormal vascular physiology	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy		415
HP:0030163	HP:0030163	Abnormal vascular physiology	0	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		415
HP:0030163	HP:0030163	Abnormal vascular physiology	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0030163	HP:0030163	Abnormal vascular physiology	0	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia		16
HP:0030163	HP:0030163	Abnormal vascular physiology	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0030163	HP:0030163	Abnormal vascular physiology	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		94
HP:0030163	HP:0030163	Abnormal vascular physiology	0	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome		94
HP:0030163	HP:0030163	Abnormal vascular physiology	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		72
HP:0030163	HP:0030163	Abnormal vascular physiology	0	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type		208
HP:0030163	HP:0030163	Abnormal vascular physiology	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		123
HP:0030163	HP:0030163	Abnormal vascular physiology	0	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia		178
HP:0030163	HP:0030163	Abnormal vascular physiology	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0030163	HP:0030163	Abnormal vascular physiology	0	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0030163	HP:0030163	Abnormal vascular physiology	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0030163	HP:0030163	Abnormal vascular physiology	0	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary		129
HP:0030163	HP:0030163	Abnormal vascular physiology	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome		116
HP:0030163	HP:0030163	Abnormal vascular physiology	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome		6
HP:0030163	HP:0030163	Abnormal vascular physiology	0	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome		1
HP:0030163	HP:0030163	Abnormal vascular physiology	0	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I		260
HP:0030163	HP:0030163	Abnormal vascular physiology	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome		54
HP:0030163	HP:0030163	Abnormal vascular physiology	0	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia		104
HP:0030163	HP:0030163	Abnormal vascular physiology	0	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0030163	HP:0030163	Abnormal vascular physiology	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0030163	HP:0030163	Abnormal vascular physiology	0	ANGPTL6 CL E G H	83854	23140	ORPHA:231160	Familial cerebral saccular aneurysm
HP:0030163	HP:0030163	Abnormal vascular physiology	0	APP CL E G H	351	620	OMIM:605714	Cerebral amyloid angiopathy, APP-related		74
HP:0030163	HP:0030163	Abnormal vascular physiology	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome		147
HP:0030163	HP:0030163	Abnormal vascular physiology	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1		147
HP:0030163	HP:0030163	Abnormal vascular physiology	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0030163	HP:0030163	Abnormal vascular physiology	0	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive
HP:0030163	HP:0030163	Abnormal vascular physiology	0	ATP5F1A CL E G H	498	823	OMIM:616045	Combined oxidative phosphorylation deficiency 22
HP:0030163	HP:0030163	Abnormal vascular physiology	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0030163	HP:0030163	Abnormal vascular physiology	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0030163	HP:0030163	Abnormal vascular physiology	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0030163	HP:0030163	Abnormal vascular physiology	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0030163	HP:0030163	Abnormal vascular physiology	0	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0030163	HP:0030163	Abnormal vascular physiology	0	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1		525
HP:0030163	HP:0030163	Abnormal vascular physiology	0	BMPR2 CL E G H	659	1078	OMIM:265450	PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1		525
HP:0030163	HP:0030163	Abnormal vascular physiology	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma		276
HP:0030163	HP:0030163	Abnormal vascular physiology	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0030163	HP:0030163	Abnormal vascular physiology	0	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome		8
HP:0030163	HP:0030163	Abnormal vascular physiology	0	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2		1
HP:0030163	HP:0030163	Abnormal vascular physiology	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0030163	HP:0030163	Abnormal vascular physiology	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease		1
HP:0030163	HP:0030163	Abnormal vascular physiology	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0030163	HP:0030163	Abnormal vascular physiology	0	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0030163	HP:0030163	Abnormal vascular physiology	0	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities		51
HP:0030163	HP:0030163	Abnormal vascular physiology	0	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome		51
HP:0030163	HP:0030163	Abnormal vascular physiology	0	CALR CL E G H	811	1455	ORPHA:3318	Essential thrombocythemia		1
HP:0030163	HP:0030163	Abnormal vascular physiology	0	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis		11
HP:0030163	HP:0030163	Abnormal vascular physiology	0	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis		11
HP:0030163	HP:0030163	Abnormal vascular physiology	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0030163	HP:0030163	Abnormal vascular physiology	0	CAV1 CL E G H	857	1527	OMIM:615343	Pulmonary hypertension, primary, 3		11
HP:0030163	HP:0030163	Abnormal vascular physiology	0	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria		242
HP:0030163	HP:0030163	Abnormal vascular physiology	0	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0030163	HP:0030163	Abnormal vascular physiology	0	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0030163	HP:0030163	Abnormal vascular physiology	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0030163	HP:0030163	Abnormal vascular physiology	0	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0030163	HP:0030163	Abnormal vascular physiology	0	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0030163	HP:0030163	Abnormal vascular physiology	0	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy		9
HP:0030163	HP:0030163	Abnormal vascular physiology	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0030163	HP:0030163	Abnormal vascular physiology	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0030163	HP:0030163	Abnormal vascular physiology	0	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type		5
HP:0030163	HP:0030163	Abnormal vascular physiology	0	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type		5
HP:0030163	HP:0030163	Abnormal vascular physiology	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis		102
HP:0030163	HP:0030163	Abnormal vascular physiology	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome		27
HP:0030163	HP:0030163	Abnormal vascular physiology	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0030163	HP:0030163	Abnormal vascular physiology	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG		52
HP:0030163	HP:0030163	Abnormal vascular physiology	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome		373
HP:0030163	HP:0030163	Abnormal vascular physiology	0	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1		373
HP:0030163	HP:0030163	Abnormal vascular physiology	0	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III		373
HP:0030163	HP:0030163	Abnormal vascular physiology	0	COL1A2 CL E G H	1278	2198	OMIM:619120	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2		243
HP:0030163	HP:0030163	Abnormal vascular physiology	0	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III		243
HP:0030163	HP:0030163	Abnormal vascular physiology	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0030163	HP:0030163	Abnormal vascular physiology	0	COL3A1 CL E G H	1281	2201	ORPHA:231160	Familial cerebral saccular aneurysm		749
HP:0030163	HP:0030163	Abnormal vascular physiology	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0030163	HP:0030163	Abnormal vascular physiology	0	COL4A1 CL E G H	1282	2202	OMIM:611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps		193
HP:0030163	HP:0030163	Abnormal vascular physiology	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies		193
HP:0030163	HP:0030163	Abnormal vascular physiology	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome		660
HP:0030163	HP:0030163	Abnormal vascular physiology	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome		325
HP:0030163	HP:0030163	Abnormal vascular physiology	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes		90
HP:0030163	HP:0030163	Abnormal vascular physiology	0	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type		54
HP:0030163	HP:0030163	Abnormal vascular physiology	0	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type		54
HP:0030163	HP:0030163	Abnormal vascular physiology	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0030163	HP:0030163	Abnormal vascular physiology	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0030163	HP:0030163	Abnormal vascular physiology	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0030163	HP:0030163	Abnormal vascular physiology	0	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0030163	HP:0030163	Abnormal vascular physiology	0	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7		10
HP:0030163	HP:0030163	Abnormal vascular physiology	0	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2		6
HP:0030163	HP:0030163	Abnormal vascular physiology	0	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15		1
HP:0030163	HP:0030163	Abnormal vascular physiology	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0030163	HP:0030163	Abnormal vascular physiology	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis		10
HP:0030163	HP:0030163	Abnormal vascular physiology	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma		88
HP:0030163	HP:0030163	Abnormal vascular physiology	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0030163	HP:0030163	Abnormal vascular physiology	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0030163	HP:0030163	Abnormal vascular physiology	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome		9
HP:0030163	HP:0030163	Abnormal vascular physiology	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0030163	HP:0030163	Abnormal vascular physiology	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome		18
HP:0030163	HP:0030163	Abnormal vascular physiology	0	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis		40
HP:0030163	HP:0030163	Abnormal vascular physiology	0	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0030163	HP:0030163	Abnormal vascular physiology	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0030163	HP:0030163	Abnormal vascular physiology	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		172
HP:0030163	HP:0030163	Abnormal vascular physiology	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0030163	HP:0030163	Abnormal vascular physiology	0	ENG CL E G H	2022	3349	ORPHA:231160	Familial cerebral saccular aneurysm		186
HP:0030163	HP:0030163	Abnormal vascular physiology	0	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia		186
HP:0030163	HP:0030163	Abnormal vascular physiology	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0030163	HP:0030163	Abnormal vascular physiology	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy		151
HP:0030163	HP:0030163	Abnormal vascular physiology	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome		4
HP:0030163	HP:0030163	Abnormal vascular physiology	0	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation		3
HP:0030163	HP:0030163	Abnormal vascular physiology	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease		1
HP:0030163	HP:0030163	Abnormal vascular physiology	0	F13A1 CL E G H	2162	3531	OMIM:188050	Thrombophiliavenous thromboembolism, included		60
HP:0030163	HP:0030163	Abnormal vascular physiology	0	F2 CL E G H	2147	3535	OMIM:188050	Thrombophiliavenous thromboembolism, included		44
HP:0030163	HP:0030163	Abnormal vascular physiology	0	F5 CL E G H	2153	3542	OMIM:600880	Budd-Chiari syndrome		159
HP:0030163	HP:0030163	Abnormal vascular physiology	0	F8 CL E G H	2157	3546	OMIM:301071	THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT; THPH13		303
HP:0030163	HP:0030163	Abnormal vascular physiology	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease		59
HP:0030163	HP:0030163	Abnormal vascular physiology	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		1361
HP:0030163	HP:0030163	Abnormal vascular physiology	0	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2		1361
HP:0030163	HP:0030163	Abnormal vascular physiology	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis		172
HP:0030163	HP:0030163	Abnormal vascular physiology	0	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans		145
HP:0030163	HP:0030163	Abnormal vascular physiology	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0030163	HP:0030163	Abnormal vascular physiology	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0030163	HP:0030163	Abnormal vascular physiology	0	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency		13
HP:0030163	HP:0030163	Abnormal vascular physiology	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0030163	HP:0030163	Abnormal vascular physiology	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome		493
HP:0030163	HP:0030163	Abnormal vascular physiology	0	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy		197
HP:0030163	HP:0030163	Abnormal vascular physiology	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		23
HP:0030163	HP:0030163	Abnormal vascular physiology	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0030163	HP:0030163	Abnormal vascular physiology	0	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia		61
HP:0030163	HP:0030163	Abnormal vascular physiology	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome		184
HP:0030163	HP:0030163	Abnormal vascular physiology	0	FSHR CL E G H	2492	3969	ORPHA:64739	Ovarian hyperstimulation syndrome		50
HP:0030163	HP:0030163	Abnormal vascular physiology	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0030163	HP:0030163	Abnormal vascular physiology	0	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type		87
HP:0030163	HP:0030163	Abnormal vascular physiology	0	GATA6 CL E G H	2627	4174	OMIM:614475	Atrial septal defect 9		37
HP:0030163	HP:0030163	Abnormal vascular physiology	0	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type		37
HP:0030163	HP:0030163	Abnormal vascular physiology	0	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0030163	HP:0030163	Abnormal vascular physiology	0	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0030163	HP:0030163	Abnormal vascular physiology	0	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I
HP:0030163	HP:0030163	Abnormal vascular physiology	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0030163	HP:0030163	Abnormal vascular physiology	0	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia		8
HP:0030163	HP:0030163	Abnormal vascular physiology	0	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3		68
HP:0030163	HP:0030163	Abnormal vascular physiology	0	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease		291
HP:0030163	HP:0030163	Abnormal vascular physiology	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease		291
HP:0030163	HP:0030163	Abnormal vascular physiology	0	GNAQ CL E G H	2776	4390	ORPHA:624	Familial multiple nevi flammei		7
HP:0030163	HP:0030163	Abnormal vascular physiology	0	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome		7
HP:0030163	HP:0030163	Abnormal vascular physiology	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0030163	HP:0030163	Abnormal vascular physiology	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0030163	HP:0030163	Abnormal vascular physiology	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0030163	HP:0030163	Abnormal vascular physiology	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0030163	HP:0030163	Abnormal vascular physiology	0	GUCY1A1 CL E G H	2982	4685	OMIM:615750	Moyamoya disease 6 with achalasia
HP:0030163	HP:0030163	Abnormal vascular physiology	0	GUCY1A1 CL E G H	2982	4685	ORPHA:401945	Moyamoya disease with early-onset achalasia
HP:0030163	HP:0030163	Abnormal vascular physiology	0	HABP2 CL E G H	3026	4798	OMIM:188050	Thrombophiliavenous thromboembolism, included		58
HP:0030163	HP:0030163	Abnormal vascular physiology	0	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia		580
HP:0030163	HP:0030163	Abnormal vascular physiology	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection
HP:0030163	HP:0030163	Abnormal vascular physiology	0	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1		38
HP:0030163	HP:0030163	Abnormal vascular physiology	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease		4
HP:0030163	HP:0030163	Abnormal vascular physiology	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis		4
HP:0030163	HP:0030163	Abnormal vascular physiology	0	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis		4
HP:0030163	HP:0030163	Abnormal vascular physiology	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0030163	HP:0030163	Abnormal vascular physiology	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis		1
HP:0030163	HP:0030163	Abnormal vascular physiology	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis		2
HP:0030163	HP:0030163	Abnormal vascular physiology	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis		2
HP:0030163	HP:0030163	Abnormal vascular physiology	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis		2
HP:0030163	HP:0030163	Abnormal vascular physiology	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1		2
HP:0030163	HP:0030163	Abnormal vascular physiology	0	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0030163	HP:0030163	Abnormal vascular physiology	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0030163	HP:0030163	Abnormal vascular physiology	0	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0030163	HP:0030163	Abnormal vascular physiology	0	HTRA1 CL E G H	5654	9476	OMIM:616779	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2		34
HP:0030163	HP:0030163	Abnormal vascular physiology	0	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0030163	HP:0030163	Abnormal vascular physiology	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome		28
HP:0030163	HP:0030163	Abnormal vascular physiology	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease		60
HP:0030163	HP:0030163	Abnormal vascular physiology	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0030163	HP:0030163	Abnormal vascular physiology	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease		2
HP:0030163	HP:0030163	Abnormal vascular physiology	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0030163	HP:0030163	Abnormal vascular physiology	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0030163	HP:0030163	Abnormal vascular physiology	0	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis		31
HP:0030163	HP:0030163	Abnormal vascular physiology	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease		1
HP:0030163	HP:0030163	Abnormal vascular physiology	0	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0030163	HP:0030163	Abnormal vascular physiology	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0030163	HP:0030163	Abnormal vascular physiology	0	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0030163	HP:0030163	Abnormal vascular physiology	0	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis		4
HP:0030163	HP:0030163	Abnormal vascular physiology	0	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis		4
HP:0030163	HP:0030163	Abnormal vascular physiology	0	JAK2 CL E G H	3717	6192	OMIM:600880	Budd-Chiari syndrome		57
HP:0030163	HP:0030163	Abnormal vascular physiology	0	JAK2 CL E G H	3717	6192	ORPHA:3318	Essential thrombocythemia		57
HP:0030163	HP:0030163	Abnormal vascular physiology	0	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis		57
HP:0030163	HP:0030163	Abnormal vascular physiology	0	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera		57
HP:0030163	HP:0030163	Abnormal vascular physiology	0	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera		57
HP:0030163	HP:0030163	Abnormal vascular physiology	0	JAK2 CL E G H	3717	6192	OMIM:614521	Thrombocythemia 3		57
HP:0030163	HP:0030163	Abnormal vascular physiology	0	KCNJ5 CL E G H	3762	6266	OMIM:613485	Long QT syndrome 13		128
HP:0030163	HP:0030163	Abnormal vascular physiology	0	KCNK3 CL E G H	3777	6278	OMIM:615344	Pulmonary hypertension, primary, 4		7
HP:0030163	HP:0030163	Abnormal vascular physiology	0	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis		3
HP:0030163	HP:0030163	Abnormal vascular physiology	0	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0030163	HP:0030163	Abnormal vascular physiology	0	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy
HP:0030163	HP:0030163	Abnormal vascular physiology	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0030163	HP:0030163	Abnormal vascular physiology	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis		196
HP:0030163	HP:0030163	Abnormal vascular physiology	0	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome		196
HP:0030163	HP:0030163	Abnormal vascular physiology	0	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial		19
HP:0030163	HP:0030163	Abnormal vascular physiology	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy		411
HP:0030163	HP:0030163	Abnormal vascular physiology	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes		92
HP:0030163	HP:0030163	Abnormal vascular physiology	0	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome		70
HP:0030163	HP:0030163	Abnormal vascular physiology	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0030163	HP:0030163	Abnormal vascular physiology	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0030163	HP:0030163	Abnormal vascular physiology	0	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency		21
HP:0030163	HP:0030163	Abnormal vascular physiology	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0030163	HP:0030163	Abnormal vascular physiology	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		6
HP:0030163	HP:0030163	Abnormal vascular physiology	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0030163	HP:0030163	Abnormal vascular physiology	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		13
HP:0030163	HP:0030163	Abnormal vascular physiology	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0030163	HP:0030163	Abnormal vascular physiology	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0030163	HP:0030163	Abnormal vascular physiology	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease		281
HP:0030163	HP:0030163	Abnormal vascular physiology	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0030163	HP:0030163	Abnormal vascular physiology	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0030163	HP:0030163	Abnormal vascular physiology	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		11
HP:0030163	HP:0030163	Abnormal vascular physiology	0	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome		33
HP:0030163	HP:0030163	Abnormal vascular physiology	0	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis
HP:0030163	HP:0030163	Abnormal vascular physiology	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0030163	HP:0030163	Abnormal vascular physiology	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0030163	HP:0030163	Abnormal vascular physiology	0	MPL CL E G H	4352	7217	ORPHA:3318	Essential thrombocythemia		97
HP:0030163	HP:0030163	Abnormal vascular physiology	0	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis		97
HP:0030163	HP:0030163	Abnormal vascular physiology	0	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera		97
HP:0030163	HP:0030163	Abnormal vascular physiology	0	MTHFR CL E G H	4524	7436	OMIM:188050	Thrombophiliavenous thromboembolism, included		183
HP:0030163	HP:0030163	Abnormal vascular physiology	0	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic		133
HP:0030163	HP:0030163	Abnormal vascular physiology	0	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4		1143
HP:0030163	HP:0030163	Abnormal vascular physiology	0	MYBPC3 CL E G H	4607	7551	OMIM:615396	Left ventricular noncompaction 10		1143
HP:0030163	HP:0030163	Abnormal vascular physiology	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		418
HP:0030163	HP:0030163	Abnormal vascular physiology	0	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2		418
HP:0030163	HP:0030163	Abnormal vascular physiology	0	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type		452
HP:0030163	HP:0030163	Abnormal vascular physiology	0	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0030163	HP:0030163	Abnormal vascular physiology	0	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve		1269
HP:0030163	HP:0030163	Abnormal vascular physiology	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0030163	HP:0030163	Abnormal vascular physiology	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		326
HP:0030163	HP:0030163	Abnormal vascular physiology	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome		5
HP:0030163	HP:0030163	Abnormal vascular physiology	0	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy		217
HP:0030163	HP:0030163	Abnormal vascular physiology	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0030163	HP:0030163	Abnormal vascular physiology	0	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency		36
HP:0030163	HP:0030163	Abnormal vascular physiology	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0030163	HP:0030163	Abnormal vascular physiology	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0030163	HP:0030163	Abnormal vascular physiology	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0030163	HP:0030163	Abnormal vascular physiology	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0030163	HP:0030163	Abnormal vascular physiology	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0030163	HP:0030163	Abnormal vascular physiology	0	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0030163	HP:0030163	Abnormal vascular physiology	0	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0030163	HP:0030163	Abnormal vascular physiology	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0030163	HP:0030163	Abnormal vascular physiology	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome		40
HP:0030163	HP:0030163	Abnormal vascular physiology	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0030163	HP:0030163	Abnormal vascular physiology	0	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0030163	HP:0030163	Abnormal vascular physiology	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome		51
HP:0030163	HP:0030163	Abnormal vascular physiology	0	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type		90
HP:0030163	HP:0030163	Abnormal vascular physiology	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome		187
HP:0030163	HP:0030163	Abnormal vascular physiology	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome		452
HP:0030163	HP:0030163	Abnormal vascular physiology	0	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5		452
HP:0030163	HP:0030163	Abnormal vascular physiology	0	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy		144
HP:0030163	HP:0030163	Abnormal vascular physiology	0	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy		144
HP:0030163	HP:0030163	Abnormal vascular physiology	0	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill		13
HP:0030163	HP:0030163	Abnormal vascular physiology	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0030163	HP:0030163	Abnormal vascular physiology	0	NT5E CL E G H	4907	8021	OMIM:211800	Calcification of joints and arteries		3
HP:0030163	HP:0030163	Abnormal vascular physiology	0	NT5E CL E G H	4907	8021	ORPHA:289601	Hereditary arterial and articular multiple calcification syndrome		3
HP:0030163	HP:0030163	Abnormal vascular physiology	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis		3
HP:0030163	HP:0030163	Abnormal vascular physiology	0	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type		1
HP:0030163	HP:0030163	Abnormal vascular physiology	0	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2		40
HP:0030163	HP:0030163	Abnormal vascular physiology	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0030163	HP:0030163	Abnormal vascular physiology	0	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis		36
HP:0030163	HP:0030163	Abnormal vascular physiology	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria		46
HP:0030163	HP:0030163	Abnormal vascular physiology	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0030163	HP:0030163	Abnormal vascular physiology	0	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0030163	HP:0030163	Abnormal vascular physiology	0	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome		162
HP:0030163	HP:0030163	Abnormal vascular physiology	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0030163	HP:0030163	Abnormal vascular physiology	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency		105
HP:0030163	HP:0030163	Abnormal vascular physiology	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0030163	HP:0030163	Abnormal vascular physiology	0	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2		60
HP:0030163	HP:0030163	Abnormal vascular physiology	0	PPCS CL E G H	79717	25686	OMIM:618189	Cardiomyopathy, dilated, 2C
HP:0030163	HP:0030163	Abnormal vascular physiology	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0030163	HP:0030163	Abnormal vascular physiology	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		41
HP:0030163	HP:0030163	Abnormal vascular physiology	0	PROC CL E G H	5624	9451	ORPHA:745	Severe hereditary thrombophilia due to congenital protein C deficiency		65
HP:0030163	HP:0030163	Abnormal vascular physiology	0	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive		65
HP:0030163	HP:0030163	Abnormal vascular physiology	0	PROC CL E G H	5624	9451	OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant		65
HP:0030163	HP:0030163	Abnormal vascular physiology	0	PROS1 CL E G H	5627	9456	ORPHA:743	Severe hereditary thrombophilia due to congenital protein S deficiency		75
HP:0030163	HP:0030163	Abnormal vascular physiology	0	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive		75
HP:0030163	HP:0030163	Abnormal vascular physiology	0	PROS1 CL E G H	5627	9456	OMIM:612336	Thrombophilia, hereditary, due to protein S deficiency, autosomal		75
HP:0030163	HP:0030163	Abnormal vascular physiology	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0030163	HP:0030163	Abnormal vascular physiology	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome		948
HP:0030163	HP:0030163	Abnormal vascular physiology	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis		3
HP:0030163	HP:0030163	Abnormal vascular physiology	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis		3
HP:0030163	HP:0030163	Abnormal vascular physiology	0	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation		88
HP:0030163	HP:0030163	Abnormal vascular physiology	0	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome		88
HP:0030163	HP:0030163	Abnormal vascular physiology	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome		3
HP:0030163	HP:0030163	Abnormal vascular physiology	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0030163	HP:0030163	Abnormal vascular physiology	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome		33
HP:0030163	HP:0030163	Abnormal vascular physiology	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome		34
HP:0030163	HP:0030163	Abnormal vascular physiology	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome		60
HP:0030163	HP:0030163	Abnormal vascular physiology	0	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome		5
HP:0030163	HP:0030163	Abnormal vascular physiology	0	RNF213 CL E G H	57674	14539	OMIM:607151	MOYAMOYA DISEASE 2; MYMY2		14
HP:0030163	HP:0030163	Abnormal vascular physiology	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0030163	HP:0030163	Abnormal vascular physiology	0	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0030163	HP:0030163	Abnormal vascular physiology	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0030163	HP:0030163	Abnormal vascular physiology	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia		1200
HP:0030163	HP:0030163	Abnormal vascular physiology	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome		55
HP:0030163	HP:0030163	Abnormal vascular physiology	0	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome		60
HP:0030163	HP:0030163	Abnormal vascular physiology	0	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1		77
HP:0030163	HP:0030163	Abnormal vascular physiology	0	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill		1134
HP:0030163	HP:0030163	Abnormal vascular physiology	0	SCNN1A CL E G H	6337	10599	ORPHA:526	Liddle syndrome		67
HP:0030163	HP:0030163	Abnormal vascular physiology	0	SCNN1B CL E G H	6338	10600	ORPHA:526	Liddle syndrome		61
HP:0030163	HP:0030163	Abnormal vascular physiology	0	SCNN1G CL E G H	6340	10602	ORPHA:526	Liddle syndrome		57
HP:0030163	HP:0030163	Abnormal vascular physiology	0	SERPINC1 CL E G H	462	775	OMIM:613118	Antithrombin III deficiency		88
HP:0030163	HP:0030163	Abnormal vascular physiology	0	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency		88
HP:0030163	HP:0030163	Abnormal vascular physiology	0	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic		10
HP:0030163	HP:0030163	Abnormal vascular physiology	0	SFTPB CL E G H	6439	10801	ORPHA:217563	Neonatal acute respiratory distress due to SP-B deficiency		51
HP:0030163	HP:0030163	Abnormal vascular physiology	0	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1		51
HP:0030163	HP:0030163	Abnormal vascular physiology	0	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic		33
HP:0030163	HP:0030163	Abnormal vascular physiology	0	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2		33
HP:0030163	HP:0030163	Abnormal vascular physiology	0	SH2B3 CL E G H	10019	29605	ORPHA:3318	Essential thrombocythemia		4
HP:0030163	HP:0030163	Abnormal vascular physiology	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome		145
HP:0030163	HP:0030163	Abnormal vascular physiology	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0030163	HP:0030163	Abnormal vascular physiology	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0030163	HP:0030163	Abnormal vascular physiology	0	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome		178
HP:0030163	HP:0030163	Abnormal vascular physiology	0	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis		7
HP:0030163	HP:0030163	Abnormal vascular physiology	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib		110
HP:0030163	HP:0030163	Abnormal vascular physiology	0	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0030163	HP:0030163	Abnormal vascular physiology	0	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis		109
HP:0030163	HP:0030163	Abnormal vascular physiology	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		7
HP:0030163	HP:0030163	Abnormal vascular physiology	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		260
HP:0030163	HP:0030163	Abnormal vascular physiology	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		504
HP:0030163	HP:0030163	Abnormal vascular physiology	0	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia		504
HP:0030163	HP:0030163	Abnormal vascular physiology	0	SMAD9 CL E G H	4093	6774	OMIM:615342	Pulmonary hypertension, primary, 2		132
HP:0030163	HP:0030163	Abnormal vascular physiology	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0030163	HP:0030163	Abnormal vascular physiology	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0030163	HP:0030163	Abnormal vascular physiology	0	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis		2
HP:0030163	HP:0030163	Abnormal vascular physiology	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0030163	HP:0030163	Abnormal vascular physiology	0	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0030163	HP:0030163	Abnormal vascular physiology	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0030163	HP:0030163	Abnormal vascular physiology	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease		2
HP:0030163	HP:0030163	Abnormal vascular physiology	0	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus		2
HP:0030163	HP:0030163	Abnormal vascular physiology	0	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0030163	HP:0030163	Abnormal vascular physiology	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0030163	HP:0030163	Abnormal vascular physiology	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0030163	HP:0030163	Abnormal vascular physiology	0	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type		20
HP:0030163	HP:0030163	Abnormal vascular physiology	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome		55
HP:0030163	HP:0030163	Abnormal vascular physiology	0	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis		82
HP:0030163	HP:0030163	Abnormal vascular physiology	0	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic		238
HP:0030163	HP:0030163	Abnormal vascular physiology	0	TET2 CL E G H	54790	25941	ORPHA:3318	Essential thrombocythemia		3
HP:0030163	HP:0030163	Abnormal vascular physiology	0	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera		3
HP:0030163	HP:0030163	Abnormal vascular physiology	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		162
HP:0030163	HP:0030163	Abnormal vascular physiology	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		85
HP:0030163	HP:0030163	Abnormal vascular physiology	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		239
HP:0030163	HP:0030163	Abnormal vascular physiology	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		253
HP:0030163	HP:0030163	Abnormal vascular physiology	0	TGFBR3 CL E G H	7049	11774	ORPHA:231160	Familial cerebral saccular aneurysm		1
HP:0030163	HP:0030163	Abnormal vascular physiology	0	THBD CL E G H	7056	11784	OMIM:614486	Thrombophilia due to thrombomodulin defect		60
HP:0030163	HP:0030163	Abnormal vascular physiology	0	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis		23
HP:0030163	HP:0030163	Abnormal vascular physiology	0	THSD1 CL E G H	55901	17754	ORPHA:231160	Familial cerebral saccular aneurysm		2
HP:0030163	HP:0030163	Abnormal vascular physiology	0	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type		6
HP:0030163	HP:0030163	Abnormal vascular physiology	0	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type		6
HP:0030163	HP:0030163	Abnormal vascular physiology	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease		3
HP:0030163	HP:0030163	Abnormal vascular physiology	0	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0030163	HP:0030163	Abnormal vascular physiology	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0030163	HP:0030163	Abnormal vascular physiology	0	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis		44
HP:0030163	HP:0030163	Abnormal vascular physiology	0	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy		180
HP:0030163	HP:0030163	Abnormal vascular physiology	0	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy		248
HP:0030163	HP:0030163	Abnormal vascular physiology	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0030163	HP:0030163	Abnormal vascular physiology	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0030163	HP:0030163	Abnormal vascular physiology	0	TP53 CL E G H	7157	11998	ORPHA:3318	Essential thrombocythemia		911
HP:0030163	HP:0030163	Abnormal vascular physiology	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome		56
HP:0030163	HP:0030163	Abnormal vascular physiology	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations		56
HP:0030163	HP:0030163	Abnormal vascular physiology	0	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy		56
HP:0030163	HP:0030163	Abnormal vascular physiology	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0030163	HP:0030163	Abnormal vascular physiology	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0030163	HP:0030163	Abnormal vascular physiology	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0030163	HP:0030163	Abnormal vascular physiology	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0030163	HP:0030163	Abnormal vascular physiology	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0030163	HP:0030163	Abnormal vascular physiology	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0030163	HP:0030163	Abnormal vascular physiology	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0030163	HP:0030163	Abnormal vascular physiology	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0030163	HP:0030163	Abnormal vascular physiology	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0030163	HP:0030163	Abnormal vascular physiology	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0030163	HP:0030163	Abnormal vascular physiology	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0030163	HP:0030163	Abnormal vascular physiology	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0030163	HP:0030163	Abnormal vascular physiology	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0030163	HP:0030163	Abnormal vascular physiology	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0030163	HP:0030163	Abnormal vascular physiology	0	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15		248
HP:0030163	HP:0030163	Abnormal vascular physiology	0	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2		490
HP:0030163	HP:0030163	Abnormal vascular physiology	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders		1
HP:0030163	HP:0030163	Abnormal vascular physiology	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0030163	HP:0030163	Abnormal vascular physiology	0	XPNPEP2 CL E G H	7512	12823	ORPHA:100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema		4
HP:0030163	HP:0030163	Abnormal vascular physiology	0	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		14
HP:0030163	HP:0030163	Abnormal vascular physiology	0	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		5
HP:0030163	HP:0030163	Abnormal vascular physiology	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:0030163	HP:0030163	Abnormal vascular physiology	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy		415
HP:0030163	HP:0025323	Abnormal arterial physiology	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy		415
HP:0030163	HP:0025323	Abnormal arterial physiology	1	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		415
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0030163	HP:0025323	Abnormal arterial physiology	1	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia		16
HP:0030163	HP:0025323	Abnormal arterial physiology	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0030163	HP:0025323	Abnormal arterial physiology	1	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		94
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome		94
HP:0030163	HP:0025323	Abnormal arterial physiology	1	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		72
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type		208
HP:0030163	HP:0025323	Abnormal arterial physiology	1	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type		208
HP:0030163	HP:0025323	Abnormal arterial physiology	1	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		123
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia		178
HP:0030163	HP:0025323	Abnormal arterial physiology	1	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia		178
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0030163	HP:0025323	Abnormal arterial physiology	1	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0030163	HP:0025323	Abnormal arterial physiology	1	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0030163	HP:0025323	Abnormal arterial physiology	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0030163	HP:0025323	Abnormal arterial physiology	1	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary		129
HP:0030163	HP:0025323	Abnormal arterial physiology	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome		116
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome		6
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome		1
HP:0030163	HP:0025323	Abnormal arterial physiology	1	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I		260
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome		54
HP:0030163	HP:0030850	Abnormal pulse pressure	1	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia		104
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0030163	HP:0025323	Abnormal arterial physiology	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0030163	HP:0025323	Abnormal arterial physiology	1	ANGPTL6 CL E G H	83854	23140	ORPHA:231160	Familial cerebral saccular aneurysm
HP:0030163	HP:0025323	Abnormal arterial physiology	1	APP CL E G H	351	620	OMIM:605714	Cerebral amyloid angiopathy, APP-related		74
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome		147
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1		147
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	ATP5F1A CL E G H	498	823	OMIM:616045	Combined oxidative phosphorylation deficiency 22
HP:0030163	HP:0025018	Abnormal capillary physiology	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0030163	HP:0025323	Abnormal arterial physiology	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0030163	HP:0025323	Abnormal arterial physiology	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0030163	HP:0030846	Abnormality of venous physiology	1	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1		525
HP:0030163	HP:0030846	Abnormality of venous physiology	1	BMPR2 CL E G H	659	1078	OMIM:265450	PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1		525
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	BMPR2 CL E G H	659	1078	OMIM:265450	PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1		525
HP:0030163	HP:0025323	Abnormal arterial physiology	1	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma		276
HP:0030163	HP:0025018	Abnormal capillary physiology	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0030163	HP:0025323	Abnormal arterial physiology	1	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome		8
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2		1
HP:0030163	HP:0025323	Abnormal arterial physiology	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease		1
HP:0030163	HP:0025323	Abnormal arterial physiology	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease		1
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities		51
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome		51
HP:0030163	HP:0025323	Abnormal arterial physiology	1	CALR CL E G H	811	1455	ORPHA:3318	Essential thrombocythemia		1
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis		11
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis		11
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	CAV1 CL E G H	857	1527	OMIM:615343	Pulmonary hypertension, primary, 3		11
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria		242
HP:0030163	HP:0025323	Abnormal arterial physiology	1	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria		242
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0030163	HP:0025323	Abnormal arterial physiology	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0030163	HP:0030846	Abnormality of venous physiology	1	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy		9
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy		9
HP:0030163	HP:0025018	Abnormal capillary physiology	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type		5
HP:0030163	HP:0025323	Abnormal arterial physiology	1	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type		5
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type		5
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis		102
HP:0030163	HP:0025323	Abnormal arterial physiology	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome		27
HP:0030163	HP:0025323	Abnormal arterial physiology	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG		52
HP:0030163	HP:0025323	Abnormal arterial physiology	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome		373
HP:0030163	HP:0025323	Abnormal arterial physiology	1	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1		373
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III		373
HP:0030163	HP:0025323	Abnormal arterial physiology	1	COL1A2 CL E G H	1278	2198	OMIM:619120	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2		243
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III		243
HP:0030163	HP:0025323	Abnormal arterial physiology	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0030163	HP:0025323	Abnormal arterial physiology	1	COL3A1 CL E G H	1281	2201	ORPHA:231160	Familial cerebral saccular aneurysm		749
HP:0030163	HP:0025323	Abnormal arterial physiology	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0030163	HP:0025323	Abnormal arterial physiology	1	COL4A1 CL E G H	1282	2202	OMIM:611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps		193
HP:0030163	HP:0025323	Abnormal arterial physiology	1	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies		193
HP:0030163	HP:0025323	Abnormal arterial physiology	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome		660
HP:0030163	HP:0025323	Abnormal arterial physiology	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome		325
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes		90
HP:0030163	HP:0025323	Abnormal arterial physiology	1	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type		54
HP:0030163	HP:0025323	Abnormal arterial physiology	1	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type		54
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7		10
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2		6
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15		1
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0030163	HP:0025323	Abnormal arterial physiology	1	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis		10
HP:0030163	HP:0025323	Abnormal arterial physiology	1	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma		88
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome		9
HP:0030163	HP:0025323	Abnormal arterial physiology	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome		18
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis		40
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0030163	HP:0025323	Abnormal arterial physiology	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0030163	HP:0025323	Abnormal arterial physiology	1	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		172
HP:0030163	HP:0025323	Abnormal arterial physiology	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0030163	HP:0025323	Abnormal arterial physiology	1	ENG CL E G H	2022	3349	ORPHA:231160	Familial cerebral saccular aneurysm		186
HP:0030163	HP:0025323	Abnormal arterial physiology	1	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia		186
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia		186
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0030163	HP:0025323	Abnormal arterial physiology	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy		151
HP:0030163	HP:0025323	Abnormal arterial physiology	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy		151
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome		4
HP:0030163	HP:0025323	Abnormal arterial physiology	1	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation		3
HP:0030163	HP:0025323	Abnormal arterial physiology	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease		1
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease		1
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	F13A1 CL E G H	2162	3531	OMIM:188050	Thrombophiliavenous thromboembolism, included		60
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	F2 CL E G H	2147	3535	OMIM:188050	Thrombophiliavenous thromboembolism, included		44
HP:0030163	HP:0030846	Abnormality of venous physiology	1	F5 CL E G H	2153	3542	OMIM:600880	Budd-Chiari syndrome		159
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	F8 CL E G H	2157	3546	OMIM:301071	THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT; THPH13		303
HP:0030163	HP:0025323	Abnormal arterial physiology	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease		59
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease		59
HP:0030163	HP:0025323	Abnormal arterial physiology	1	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		1361
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2		1361
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis		172
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans		145
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0030163	HP:0025323	Abnormal arterial physiology	1	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency		13
HP:0030163	HP:0025323	Abnormal arterial physiology	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome		493
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy		197
HP:0030163	HP:0025323	Abnormal arterial physiology	1	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		23
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia		61
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome		184
HP:0030163	HP:0025018	Abnormal capillary physiology	1	FSHR CL E G H	2492	3969	ORPHA:64739	Ovarian hyperstimulation syndrome		50
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type		87
HP:0030163	HP:0025323	Abnormal arterial physiology	1	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type		87
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	GATA6 CL E G H	2627	4174	OMIM:614475	Atrial septal defect 9		37
HP:0030163	HP:0025323	Abnormal arterial physiology	1	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type		37
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type		37
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia		8
HP:0030163	HP:0025323	Abnormal arterial physiology	1	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia		8
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3		68
HP:0030163	HP:0025323	Abnormal arterial physiology	1	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease		291
HP:0030163	HP:0025323	Abnormal arterial physiology	1	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease		291
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	GNAQ CL E G H	2776	4390	ORPHA:624	Familial multiple nevi flammei		7
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome		7
HP:0030163	HP:0025323	Abnormal arterial physiology	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0030163	HP:0025323	Abnormal arterial physiology	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0030163	HP:0025323	Abnormal arterial physiology	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0030163	HP:0025323	Abnormal arterial physiology	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0030163	HP:0025323	Abnormal arterial physiology	1	GUCY1A1 CL E G H	2982	4685	OMIM:615750	Moyamoya disease 6 with achalasia
HP:0030163	HP:0025323	Abnormal arterial physiology	1	GUCY1A1 CL E G H	2982	4685	ORPHA:401945	Moyamoya disease with early-onset achalasia
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	HABP2 CL E G H	3026	4798	OMIM:188050	Thrombophiliavenous thromboembolism, included		58
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia		580
HP:0030163	HP:0025323	Abnormal arterial physiology	1	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection
HP:0030163	HP:0030846	Abnormality of venous physiology	1	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1		38
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease		4
HP:0030163	HP:0025323	Abnormal arterial physiology	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease		4
HP:0030163	HP:0025323	Abnormal arterial physiology	1	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis		4
HP:0030163	HP:0025323	Abnormal arterial physiology	1	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis		4
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis		4
HP:0030163	HP:0025323	Abnormal arterial physiology	1	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0030163	HP:0025323	Abnormal arterial physiology	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis		1
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis		2
HP:0030163	HP:0025323	Abnormal arterial physiology	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis		2
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis		2
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1		2
HP:0030163	HP:0025323	Abnormal arterial physiology	1	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0030163	HP:0025323	Abnormal arterial physiology	1	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0030163	HP:0025323	Abnormal arterial physiology	1	HTRA1 CL E G H	5654	9476	OMIM:616779	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2		34
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0030163	HP:0025323	Abnormal arterial physiology	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome		28
HP:0030163	HP:0025323	Abnormal arterial physiology	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease		60
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease		60
HP:0030163	HP:0025323	Abnormal arterial physiology	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease		2
HP:0030163	HP:0025323	Abnormal arterial physiology	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease		2
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0030163	HP:0025323	Abnormal arterial physiology	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0030163	HP:0025323	Abnormal arterial physiology	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0030163	HP:0025323	Abnormal arterial physiology	1	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis		31
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis		31
HP:0030163	HP:0025323	Abnormal arterial physiology	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease		1
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease		1
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0030163	HP:0025323	Abnormal arterial physiology	1	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis		4
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis		4
HP:0030163	HP:0030846	Abnormality of venous physiology	1	JAK2 CL E G H	3717	6192	OMIM:600880	Budd-Chiari syndrome		57
HP:0030163	HP:0025323	Abnormal arterial physiology	1	JAK2 CL E G H	3717	6192	ORPHA:3318	Essential thrombocythemia		57
HP:0030163	HP:0025323	Abnormal arterial physiology	1	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis		57
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis		57
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera		57
HP:0030163	HP:0030846	Abnormality of venous physiology	1	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera		57
HP:0030163	HP:0025323	Abnormal arterial physiology	1	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera		57
HP:0030163	HP:0030846	Abnormality of venous physiology	1	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera		57
HP:0030163	HP:0025323	Abnormal arterial physiology	1	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera		57
HP:0030163	HP:0025323	Abnormal arterial physiology	1	JAK2 CL E G H	3717	6192	OMIM:614521	Thrombocythemia 3		57
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	KCNJ5 CL E G H	3762	6266	OMIM:613485	Long QT syndrome 13		128
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	KCNK3 CL E G H	3777	6278	OMIM:615344	Pulmonary hypertension, primary, 4		7
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis		3
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy
HP:0030163	HP:0025323	Abnormal arterial physiology	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis		196
HP:0030163	HP:0025323	Abnormal arterial physiology	1	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome		196
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial		19
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy		411
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes		92
HP:0030163	HP:0025323	Abnormal arterial physiology	1	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome		70
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0030163	HP:0025323	Abnormal arterial physiology	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency		21
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0030163	HP:0025323	Abnormal arterial physiology	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0030163	HP:0025323	Abnormal arterial physiology	1	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		6
HP:0030163	HP:0025323	Abnormal arterial physiology	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0030163	HP:0025323	Abnormal arterial physiology	1	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		13
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0030163	HP:0025323	Abnormal arterial physiology	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease		281
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease		281
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0030163	HP:0025323	Abnormal arterial physiology	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0030163	HP:0025323	Abnormal arterial physiology	1	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		11
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome		33
HP:0030163	HP:0025323	Abnormal arterial physiology	1	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis
HP:0030163	HP:0025323	Abnormal arterial physiology	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0030163	HP:0025323	Abnormal arterial physiology	1	MPL CL E G H	4352	7217	ORPHA:3318	Essential thrombocythemia		97
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis		97
HP:0030163	HP:0025323	Abnormal arterial physiology	1	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis		97
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera		97
HP:0030163	HP:0030846	Abnormality of venous physiology	1	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera		97
HP:0030163	HP:0025323	Abnormal arterial physiology	1	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera		97
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	MTHFR CL E G H	4524	7436	OMIM:188050	Thrombophiliavenous thromboembolism, included		183
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic		133
HP:0030163	HP:0025323	Abnormal arterial physiology	1	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4		1143
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	MYBPC3 CL E G H	4607	7551	OMIM:615396	Left ventricular noncompaction 10		1143
HP:0030163	HP:0025323	Abnormal arterial physiology	1	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		418
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2		418
HP:0030163	HP:0025323	Abnormal arterial physiology	1	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type		452
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type		452
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0030163	HP:0025323	Abnormal arterial physiology	1	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve		1269
HP:0030163	HP:0030846	Abnormality of venous physiology	1	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0030163	HP:0025323	Abnormal arterial physiology	1	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		326
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome		5
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy		217
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0030163	HP:0025323	Abnormal arterial physiology	1	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency		36
HP:0030163	HP:0025323	Abnormal arterial physiology	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome		40
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome		51
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type		90
HP:0030163	HP:0025323	Abnormal arterial physiology	1	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type		90
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome		187
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome		452
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5		452
HP:0030163	HP:0025323	Abnormal arterial physiology	1	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy		144
HP:0030163	HP:0025323	Abnormal arterial physiology	1	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy		144
HP:0030163	HP:0025323	Abnormal arterial physiology	1	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill		13
HP:0030163	HP:0025018	Abnormal capillary physiology	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0030163	HP:0025323	Abnormal arterial physiology	1	NT5E CL E G H	4907	8021	OMIM:211800	Calcification of joints and arteries		3
HP:0030163	HP:0025323	Abnormal arterial physiology	1	NT5E CL E G H	4907	8021	ORPHA:289601	Hereditary arterial and articular multiple calcification syndrome		3
HP:0030163	HP:0025323	Abnormal arterial physiology	1	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis		3
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type		1
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2		40
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis		36
HP:0030163	HP:0030846	Abnormality of venous physiology	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria		46
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria		46
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0030163	HP:0025323	Abnormal arterial physiology	1	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0030163	HP:0025323	Abnormal arterial physiology	1	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome		162
HP:0030163	HP:0025323	Abnormal arterial physiology	1	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0030163	HP:0025323	Abnormal arterial physiology	1	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency		105
HP:0030163	HP:0025323	Abnormal arterial physiology	1	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2		60
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	PPCS CL E G H	79717	25686	OMIM:618189	Cardiomyopathy, dilated, 2C
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0030163	HP:0025323	Abnormal arterial physiology	1	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		41
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	PROC CL E G H	5624	9451	ORPHA:745	Severe hereditary thrombophilia due to congenital protein C deficiency		65
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive		65
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	PROC CL E G H	5624	9451	OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant		65
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	PROS1 CL E G H	5627	9456	ORPHA:743	Severe hereditary thrombophilia due to congenital protein S deficiency		75
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive		75
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	PROS1 CL E G H	5627	9456	OMIM:612336	Thrombophilia, hereditary, due to protein S deficiency, autosomal		75
HP:0030163	HP:0025323	Abnormal arterial physiology	1	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome		948
HP:0030163	HP:0025323	Abnormal arterial physiology	1	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis		3
HP:0030163	HP:0025323	Abnormal arterial physiology	1	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis		3
HP:0030163	HP:0025323	Abnormal arterial physiology	1	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation		88
HP:0030163	HP:0025323	Abnormal arterial physiology	1	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome		88
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome		3
HP:0030163	HP:0025323	Abnormal arterial physiology	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0030163	HP:0025323	Abnormal arterial physiology	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome		33
HP:0030163	HP:0025323	Abnormal arterial physiology	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome		34
HP:0030163	HP:0025323	Abnormal arterial physiology	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome		60
HP:0030163	HP:0025323	Abnormal arterial physiology	1	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome		5
HP:0030163	HP:0025323	Abnormal arterial physiology	1	RNF213 CL E G H	57674	14539	OMIM:607151	MOYAMOYA DISEASE 2; MYMY2		14
HP:0030163	HP:0025323	Abnormal arterial physiology	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0030163	HP:0030850	Abnormal pulse pressure	1	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040282 - Frequent	1200
HP:0030163	HP:0025323	Abnormal arterial physiology	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome		55
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome		60
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1		77
HP:0030163	HP:0025323	Abnormal arterial physiology	1	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill		1134
HP:0030163	HP:0025323	Abnormal arterial physiology	1	SCNN1A CL E G H	6337	10599	ORPHA:526	Liddle syndrome		67
HP:0030163	HP:0025323	Abnormal arterial physiology	1	SCNN1B CL E G H	6338	10600	ORPHA:526	Liddle syndrome		61
HP:0030163	HP:0025323	Abnormal arterial physiology	1	SCNN1G CL E G H	6340	10602	ORPHA:526	Liddle syndrome		57
HP:0030163	HP:0025323	Abnormal arterial physiology	1	SERPINC1 CL E G H	462	775	OMIM:613118	Antithrombin III deficiency		88
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	SERPINC1 CL E G H	462	775	OMIM:613118	Antithrombin III deficiency		88
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency		88
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic		10
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	SFTPB CL E G H	6439	10801	ORPHA:217563	Neonatal acute respiratory distress due to SP-B deficiency		51
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1		51
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic		33
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2		33
HP:0030163	HP:0025323	Abnormal arterial physiology	1	SH2B3 CL E G H	10019	29605	ORPHA:3318	Essential thrombocythemia		4
HP:0030163	HP:0025323	Abnormal arterial physiology	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome		145
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0030163	HP:0025323	Abnormal arterial physiology	1	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome		178
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis		7
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib		110
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis		109
HP:0030163	HP:0025323	Abnormal arterial physiology	1	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		7
HP:0030163	HP:0025323	Abnormal arterial physiology	1	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		260
HP:0030163	HP:0025323	Abnormal arterial physiology	1	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		504
HP:0030163	HP:0025323	Abnormal arterial physiology	1	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia		504
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia		504
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	SMAD9 CL E G H	4093	6774	OMIM:615342	Pulmonary hypertension, primary, 2		132
HP:0030163	HP:0025323	Abnormal arterial physiology	1	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0030163	HP:0025323	Abnormal arterial physiology	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis		2
HP:0030163	HP:0025323	Abnormal arterial physiology	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0030163	HP:0025323	Abnormal arterial physiology	1	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease		2
HP:0030163	HP:0025323	Abnormal arterial physiology	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease		2
HP:0030163	HP:0025323	Abnormal arterial physiology	1	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus		2
HP:0030163	HP:0025323	Abnormal arterial physiology	1	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0030163	HP:0025323	Abnormal arterial physiology	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0030163	HP:0025323	Abnormal arterial physiology	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0030163	HP:0025323	Abnormal arterial physiology	1	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type		20
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type		20
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome		55
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis		82
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic		238
HP:0030163	HP:0025323	Abnormal arterial physiology	1	TET2 CL E G H	54790	25941	ORPHA:3318	Essential thrombocythemia		3
HP:0030163	HP:0030846	Abnormality of venous physiology	1	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera		3
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera		3
HP:0030163	HP:0025323	Abnormal arterial physiology	1	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera		3
HP:0030163	HP:0025323	Abnormal arterial physiology	1	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		162
HP:0030163	HP:0025323	Abnormal arterial physiology	1	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		85
HP:0030163	HP:0025323	Abnormal arterial physiology	1	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		239
HP:0030163	HP:0025323	Abnormal arterial physiology	1	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		253
HP:0030163	HP:0025323	Abnormal arterial physiology	1	TGFBR3 CL E G H	7049	11774	ORPHA:231160	Familial cerebral saccular aneurysm		1
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	THBD CL E G H	7056	11784	OMIM:614486	Thrombophilia due to thrombomodulin defect		60
HP:0030163	HP:0025323	Abnormal arterial physiology	1	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis		23
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis		23
HP:0030163	HP:0025323	Abnormal arterial physiology	1	THSD1 CL E G H	55901	17754	ORPHA:231160	Familial cerebral saccular aneurysm		2
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type		6
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type		6
HP:0030163	HP:0025323	Abnormal arterial physiology	1	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type		6
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease		3
HP:0030163	HP:0025323	Abnormal arterial physiology	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease		3
HP:0030163	HP:0025323	Abnormal arterial physiology	1	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0030163	HP:0025323	Abnormal arterial physiology	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis		44
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy		180
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy		248
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0030163	HP:0025018	Abnormal capillary physiology	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0030163	HP:0025323	Abnormal arterial physiology	1	TP53 CL E G H	7157	11998	ORPHA:3318	Essential thrombocythemia		911
HP:0030163	HP:0025323	Abnormal arterial physiology	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome		56
HP:0030163	HP:0025323	Abnormal arterial physiology	1	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations		56
HP:0030163	HP:0025323	Abnormal arterial physiology	1	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy		56
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0030163	HP:0025323	Abnormal arterial physiology	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0030163	HP:0025018	Abnormal capillary physiology	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0030163	HP:0025018	Abnormal capillary physiology	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15		248
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2		490
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders		1
HP:0030163	HP:0025323	Abnormal arterial physiology	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0030163	HP:0025018	Abnormal capillary physiology	1	XPNPEP2 CL E G H	7512	12823	ORPHA:100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema		4
HP:0030163	HP:0025323	Abnormal arterial physiology	1	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		14
HP:0030163	HP:0025323	Abnormal arterial physiology	1	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		5
HP:0030163	HP:0025323	Abnormal arterial physiology	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:0030163	HP:0030875	Abnormality of pulmonary circulation	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0030163	HP:0030893	Abnormal response to short acting pulmonary vasodilator	2	CL E G H
HP:0030163	HP:0025322	Venous occlusion	2	CL E G H
HP:0030163	HP:0030876	Increased pulmonary capillary wedge pressure	2	CL E G H
HP:0030163	HP:0031225	Intrapulmonary shunt	2	CL E G H
HP:0030163	HP:0030852	High pulse pressure	2	CL E G H
HP:0030163	HP:0030970	Abnormal vena cava physiology	2	CL E G H
HP:0030163	HP:0032654	Impaired flow-mediated arterial dilatation	2	CL E G H
HP:0030163	HP:0030164	Jaw claudication	2	CL E G H
HP:0030163	HP:0030964	Abnormal aortic physiology	2	CL E G H
HP:0030163	HP:0025637	Vasospasm	2	CL E G H
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy		415
HP:0030163	HP:0033401	Tissue ischemia	2	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy		415
HP:0030163	HP:0032552	Abnormal pulse	2	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy		415
HP:0030163	HP:0032552	Abnormal pulse	2	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		415
HP:0030163	HP:0004417	Intermittent claudication	2	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		415
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0030163	HP:0030880	Raynaud phenomenon	2	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040283 - Occasional	16
HP:0030163	HP:0030880	Raynaud phenomenon	2	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0030163	HP:0033401	Tissue ischemia	2	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		94
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome		94
HP:0030163	HP:0033401	Tissue ischemia	2	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		72
HP:0030163	HP:0033401	Tissue ischemia	2	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type		208
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type		208
HP:0030163	HP:0005317	Increased pulmonary vascular resistance	2	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	208
HP:0030163	HP:0033401	Tissue ischemia	2	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		123
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia		178
HP:0030163	HP:0002204	Pulmonary embolism	2	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	178
HP:0030163	HP:0033401	Tissue ischemia	2	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia		178
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0030163	HP:0033401	Tissue ischemia	2	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0030163	HP:0033401	Tissue ischemia	2	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0030163	HP:0030880	Raynaud phenomenon	2	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0030163	HP:0033401	Tissue ischemia	2	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary		129
HP:0030163	HP:0030880	Raynaud phenomenon	2	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	116
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome		6
HP:0030163	HP:0002204	Pulmonary embolism	2	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome	HP:0040282 - Frequent	1
HP:0030163	HP:0025324	Arterial occlusion	2	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I	.	260
HP:0030163	HP:0004417	Intermittent claudication	2	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I	.	260
HP:0030163	HP:0030880	Raynaud phenomenon	2	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I	.	260
HP:0030163	HP:0002204	Pulmonary embolism	2	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent	54
HP:0030163	HP:0030851	Low pulse pressure	2	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia	HP:0040283 - Occasional	104
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0030163	HP:0025496	Abnormal coronary artery physiology	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0030163	HP:0033401	Tissue ischemia	2	ANGPTL6 CL E G H	83854	23140	ORPHA:231160	Familial cerebral saccular aneurysm
HP:0030163	HP:0033401	Tissue ischemia	2	APP CL E G H	351	620	OMIM:605714	Cerebral amyloid angiopathy, APP-related		74
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome		147
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1		147
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	ATP5F1A CL E G H	498	823	OMIM:616045	Combined oxidative phosphorylation deficiency 22
HP:0030163	HP:0025017	Capillary fragility	2	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease		169
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0030163	HP:0033401	Tissue ischemia	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0030163	HP:0033401	Tissue ischemia	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0030163	HP:0030847	Abnormal jugular venous pressure	2	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1		525
HP:0030163	HP:0005317	Increased pulmonary vascular resistance	2	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1		525
HP:0030163	HP:0030847	Abnormal jugular venous pressure	2	BMPR2 CL E G H	659	1078	OMIM:265450	PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1		525
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	BMPR2 CL E G H	659	1078	OMIM:265450	PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1		525
HP:0030163	HP:0033401	Tissue ischemia	2	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma		276
HP:0030163	HP:0025017	Capillary fragility	2	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease		276
HP:0030163	HP:0033401	Tissue ischemia	2	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome		8
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2		1
HP:0030163	HP:0033401	Tissue ischemia	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0030163	HP:0033401	Tissue ischemia	2	C4A CL E G H	720	1323	ORPHA:117	Behçet disease		1
HP:0030163	HP:0002204	Pulmonary embolism	2	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities		51
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome		51
HP:0030163	HP:0033401	Tissue ischemia	2	CALR CL E G H	811	1455	ORPHA:3318	Essential thrombocythemia		1
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis		11
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis		11
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	CAV1 CL E G H	857	1527	OMIM:615343	Pulmonary hypertension, primary, 3	.	11
HP:0030163	HP:0005317	Increased pulmonary vascular resistance	2	CAV1 CL E G H	857	1527	OMIM:615343	Pulmonary hypertension, primary, 3	.	11
HP:0030163	HP:0002204	Pulmonary embolism	2	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria	HP:0040282 - Frequent	242
HP:0030163	HP:0033401	Tissue ischemia	2	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria		242
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0030163	HP:0002204	Pulmonary embolism	2	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0030163	HP:0033401	Tissue ischemia	2	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0030163	HP:0002639	Budd-Chiari syndrome	2	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy	.	9
HP:0030163	HP:0002204	Pulmonary embolism	2	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy	.	9
HP:0030163	HP:0025017	Capillary fragility	2	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease		636
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0030163	HP:0005317	Increased pulmonary vascular resistance	2	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	5
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type		5
HP:0030163	HP:0033401	Tissue ischemia	2	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type		5
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type		5
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis		102
HP:0030163	HP:0030880	Raynaud phenomenon	2	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	27
HP:0030163	HP:0033401	Tissue ischemia	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG		52
HP:0030163	HP:0025019	Arterial rupture	2	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0030163	HP:0025019	Arterial rupture	2	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1		373
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III		373
HP:0030163	HP:0025019	Arterial rupture	2	COL1A2 CL E G H	1278	2198	OMIM:619120	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2		243
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III		243
HP:0030163	HP:0025019	Arterial rupture	2	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0030163	HP:0033401	Tissue ischemia	2	COL3A1 CL E G H	1281	2201	ORPHA:231160	Familial cerebral saccular aneurysm		749
HP:0030163	HP:0033401	Tissue ischemia	2	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0030163	HP:0030880	Raynaud phenomenon	2	COL4A1 CL E G H	1282	2202	OMIM:611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	.	193
HP:0030163	HP:0033401	Tissue ischemia	2	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies		193
HP:0030163	HP:0025019	Arterial rupture	2	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	660
HP:0030163	HP:0025019	Arterial rupture	2	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	325
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes		90
HP:0030163	HP:0030880	Raynaud phenomenon	2	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type	HP:0040282 - Frequent	54
HP:0030163	HP:0030880	Raynaud phenomenon	2	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type	HP:0040282 - Frequent	54
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7		10
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2		6
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15		1
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0030163	HP:0033401	Tissue ischemia	2	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis		10
HP:0030163	HP:0033401	Tissue ischemia	2	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma		88
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome		9
HP:0030163	HP:0033401	Tissue ischemia	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome		18
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis	HP:0040282 - Frequent	40
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0030163	HP:0033401	Tissue ischemia	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0030163	HP:0033401	Tissue ischemia	2	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		172
HP:0030163	HP:0033401	Tissue ischemia	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0030163	HP:0033401	Tissue ischemia	2	ENG CL E G H	2022	3349	ORPHA:231160	Familial cerebral saccular aneurysm		186
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia		186
HP:0030163	HP:0002204	Pulmonary embolism	2	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	186
HP:0030163	HP:0033401	Tissue ischemia	2	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia		186
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0030163	HP:0033401	Tissue ischemia	2	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy		151
HP:0030163	HP:0032552	Abnormal pulse	2	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy		151
HP:0030163	HP:0033401	Tissue ischemia	2	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy		151
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome		4
HP:0030163	HP:0033401	Tissue ischemia	2	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation		3
HP:0030163	HP:0002204	Pulmonary embolism	2	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0030163	HP:0033401	Tissue ischemia	2	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease		1
HP:0030163	HP:0002204	Pulmonary embolism	2	F13A1 CL E G H	2162	3531	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	60
HP:0030163	HP:0002204	Pulmonary embolism	2	F2 CL E G H	2147	3535	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	44
HP:0030163	HP:0002639	Budd-Chiari syndrome	2	F5 CL E G H	2153	3542	OMIM:600880	Budd-Chiari syndrome	.	159
HP:0030163	HP:0002204	Pulmonary embolism	2	F8 CL E G H	2157	3546	OMIM:301071	THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT; THPH13		303
HP:0030163	HP:0002204	Pulmonary embolism	2	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional	59
HP:0030163	HP:0033401	Tissue ischemia	2	FAS CL E G H	355	11920	ORPHA:117	Behçet disease		59
HP:0030163	HP:0033401	Tissue ischemia	2	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		1361
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2		1361
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis		172
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans		145
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0030163	HP:0025019	Arterial rupture	2	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency	HP:0040283 - Occasional	13
HP:0030163	HP:0033401	Tissue ischemia	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome		493
HP:0030163	HP:0030950	Pulmonary venous hypertension	2	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent	197
HP:0030163	HP:0033401	Tissue ischemia	2	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		23
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia		61
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome		184
HP:0030163	HP:0030005	Capillary leak	2	FSHR CL E G H	2492	3969	ORPHA:64739	Ovarian hyperstimulation syndrome	HP:0040281 - Very frequent	50
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0030163	HP:0033401	Tissue ischemia	2	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type		87
HP:0030163	HP:0005317	Increased pulmonary vascular resistance	2	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	87
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type		87
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	GATA6 CL E G H	2627	4174	OMIM:614475	Atrial septal defect 9		37
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type		37
HP:0030163	HP:0033401	Tissue ischemia	2	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type		37
HP:0030163	HP:0005317	Increased pulmonary vascular resistance	2	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	37
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0030163	HP:0002204	Pulmonary embolism	2	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	8
HP:0030163	HP:0033401	Tissue ischemia	2	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia		8
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia		8
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3		68
HP:0030163	HP:0033401	Tissue ischemia	2	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease		291
HP:0030163	HP:0033401	Tissue ischemia	2	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease		291
HP:0030163	HP:0002204	Pulmonary embolism	2	GNAQ CL E G H	2776	4390	ORPHA:624	Familial multiple nevi flammei	HP:0040283 - Occasional	7
HP:0030163	HP:0002204	Pulmonary embolism	2	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040283 - Occasional	7
HP:0030163	HP:0033401	Tissue ischemia	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0030163	HP:0033401	Tissue ischemia	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0030163	HP:0033401	Tissue ischemia	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0030163	HP:0033401	Tissue ischemia	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0030163	HP:0033401	Tissue ischemia	2	GUCY1A1 CL E G H	2982	4685	OMIM:615750	Moyamoya disease 6 with achalasia
HP:0030163	HP:0030880	Raynaud phenomenon	2	GUCY1A1 CL E G H	2982	4685	OMIM:615750	Moyamoya disease 6 with achalasia	HP:0040283 - Occasional
HP:0030163	HP:0030880	Raynaud phenomenon	2	GUCY1A1 CL E G H	2982	4685	ORPHA:401945	Moyamoya disease with early-onset achalasia	HP:0040283 - Occasional
HP:0030163	HP:0002204	Pulmonary embolism	2	HABP2 CL E G H	3026	4798	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	58
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia		580
HP:0030163	HP:0033401	Tissue ischemia	2	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection
HP:0030163	HP:0030847	Abnormal jugular venous pressure	2	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1		38
HP:0030163	HP:0033401	Tissue ischemia	2	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease		4
HP:0030163	HP:0002204	Pulmonary embolism	2	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional	4
HP:0030163	HP:0033401	Tissue ischemia	2	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis		4
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis		4
HP:0030163	HP:0033401	Tissue ischemia	2	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis		4
HP:0030163	HP:0033401	Tissue ischemia	2	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0030163	HP:0033401	Tissue ischemia	2	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis		1
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis		2
HP:0030163	HP:0033401	Tissue ischemia	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis		2
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis		2
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1		2
HP:0030163	HP:0030880	Raynaud phenomenon	2	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0030163	HP:0033401	Tissue ischemia	2	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0030163	HP:0033401	Tissue ischemia	2	HTRA1 CL E G H	5654	9476	OMIM:616779	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2		34
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0030163	HP:0030880	Raynaud phenomenon	2	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	28
HP:0030163	HP:0033401	Tissue ischemia	2	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease		60
HP:0030163	HP:0002204	Pulmonary embolism	2	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional	60
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0030163	HP:0033401	Tissue ischemia	2	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0030163	HP:0002204	Pulmonary embolism	2	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0030163	HP:0033401	Tissue ischemia	2	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease		2
HP:0030163	HP:0002204	Pulmonary embolism	2	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0030163	HP:0033401	Tissue ischemia	2	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0030163	HP:0033401	Tissue ischemia	2	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0030163	HP:0002204	Pulmonary embolism	2	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis		31
HP:0030163	HP:0033401	Tissue ischemia	2	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis		31
HP:0030163	HP:0002204	Pulmonary embolism	2	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0030163	HP:0033401	Tissue ischemia	2	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease		1
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0030163	HP:0030880	Raynaud phenomenon	2	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040284 - Very rare
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis		4
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis		4
HP:0030163	HP:0002639	Budd-Chiari syndrome	2	JAK2 CL E G H	3717	6192	OMIM:600880	Budd-Chiari syndrome	.	57
HP:0030163	HP:0033401	Tissue ischemia	2	JAK2 CL E G H	3717	6192	ORPHA:3318	Essential thrombocythemia		57
HP:0030163	HP:0033401	Tissue ischemia	2	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis		57
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis		57
HP:0030163	HP:0033401	Tissue ischemia	2	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera		57
HP:0030163	HP:0004417	Intermittent claudication	2	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	57
HP:0030163	HP:0002639	Budd-Chiari syndrome	2	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera	.	57
HP:0030163	HP:0002639	Budd-Chiari syndrome	2	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	57
HP:0030163	HP:0002204	Pulmonary embolism	2	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	57
HP:0030163	HP:0033401	Tissue ischemia	2	JAK2 CL E G H	3717	6192	OMIM:614521	Thrombocythemia 3		57
HP:0030163	HP:0002204	Pulmonary embolism	2	KCNJ5 CL E G H	3762	6266	OMIM:613485	Long QT syndrome 13	.	128
HP:0030163	HP:0005317	Increased pulmonary vascular resistance	2	KCNK3 CL E G H	3777	6278	OMIM:615344	Pulmonary hypertension, primary, 4	.	7
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	KCNK3 CL E G H	3777	6278	OMIM:615344	Pulmonary hypertension, primary, 4	.	7
HP:0030163	HP:0030950	Pulmonary venous hypertension	2	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040284 - Very rare	3
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0030163	HP:0030950	Pulmonary venous hypertension	2	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent
HP:0030163	HP:0002204	Pulmonary embolism	2	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0030163	HP:0033401	Tissue ischemia	2	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis		196
HP:0030163	HP:0033401	Tissue ischemia	2	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome		196
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial		19
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy		411
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes		92
HP:0030163	HP:0030880	Raynaud phenomenon	2	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome	.	70
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0030163	HP:0033401	Tissue ischemia	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency		21
HP:0030163	HP:0030880	Raynaud phenomenon	2	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	645
HP:0030163	HP:0033401	Tissue ischemia	2	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0030163	HP:0033401	Tissue ischemia	2	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		6
HP:0030163	HP:0030880	Raynaud phenomenon	2	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0030163	HP:0033401	Tissue ischemia	2	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		13
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0030163	HP:0033401	Tissue ischemia	2	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease		281
HP:0030163	HP:0002204	Pulmonary embolism	2	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional	281
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0030163	HP:0033401	Tissue ischemia	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0030163	HP:0033401	Tissue ischemia	2	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		11
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome		33
HP:0030163	HP:0033401	Tissue ischemia	2	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis
HP:0030163	HP:0033401	Tissue ischemia	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0030163	HP:0002204	Pulmonary embolism	2	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040284 - Very rare	101
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0030163	HP:0033401	Tissue ischemia	2	MPL CL E G H	4352	7217	ORPHA:3318	Essential thrombocythemia		97
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis		97
HP:0030163	HP:0033401	Tissue ischemia	2	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis		97
HP:0030163	HP:0002639	Budd-Chiari syndrome	2	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	97
HP:0030163	HP:0004417	Intermittent claudication	2	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	97
HP:0030163	HP:0002204	Pulmonary embolism	2	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	97
HP:0030163	HP:0002204	Pulmonary embolism	2	MTHFR CL E G H	4524	7436	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	183
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic		133
HP:0030163	HP:0033401	Tissue ischemia	2	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4		1143
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	MYBPC3 CL E G H	4607	7551	OMIM:615396	Left ventricular noncompaction 10		1143
HP:0030163	HP:0033401	Tissue ischemia	2	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		418
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2		418
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type		452
HP:0030163	HP:0005317	Increased pulmonary vascular resistance	2	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	452
HP:0030163	HP:0033401	Tissue ischemia	2	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type		452
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0030163	HP:0033401	Tissue ischemia	2	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve		1269
HP:0030163	HP:0030847	Abnormal jugular venous pressure	2	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0030163	HP:0033401	Tissue ischemia	2	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		326
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome		5
HP:0030163	HP:0030950	Pulmonary venous hypertension	2	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent	217
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0030163	HP:0033401	Tissue ischemia	2	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency		36
HP:0030163	HP:0033401	Tissue ischemia	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome		40
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome		51
HP:0030163	HP:0033401	Tissue ischemia	2	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type		90
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type		90
HP:0030163	HP:0005317	Increased pulmonary vascular resistance	2	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	90
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome		187
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome		452
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5		452
HP:0030163	HP:0033401	Tissue ischemia	2	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy		144
HP:0030163	HP:0033401	Tissue ischemia	2	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy		144
HP:0030163	HP:0033401	Tissue ischemia	2	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill		13
HP:0030163	HP:0025017	Capillary fragility	2	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease		79
HP:0030163	HP:0004417	Intermittent claudication	2	NT5E CL E G H	4907	8021	OMIM:211800	Calcification of joints and arteries		3
HP:0030163	HP:0025324	Arterial occlusion	2	NT5E CL E G H	4907	8021	ORPHA:289601	Hereditary arterial and articular multiple calcification syndrome	HP:0040281 - Very frequent	3
HP:0030163	HP:0033401	Tissue ischemia	2	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis		3
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type		1
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2		40
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0030163	HP:0030950	Pulmonary venous hypertension	2	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040284 - Very rare	36
HP:0030163	HP:0002204	Pulmonary embolism	2	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040283 - Occasional	46
HP:0030163	HP:0002639	Budd-Chiari syndrome	2	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040283 - Occasional	46
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0030163	HP:0033401	Tissue ischemia	2	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0030163	HP:0033401	Tissue ischemia	2	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome		162
HP:0030163	HP:0025019	Arterial rupture	2	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1		105
HP:0030163	HP:0025019	Arterial rupture	2	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040283 - Occasional	105
HP:0030163	HP:0025019	Arterial rupture	2	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.	5
HP:0030163	HP:0002204	Pulmonary embolism	2	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2	HP:0040283 - Occasional	60
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	PPCS CL E G H	79717	25686	OMIM:618189	Cardiomyopathy, dilated, 2C
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0030163	HP:0033401	Tissue ischemia	2	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		41
HP:0030163	HP:0002204	Pulmonary embolism	2	PROC CL E G H	5624	9451	ORPHA:745	Severe hereditary thrombophilia due to congenital protein C deficiency	HP:0040283 - Occasional	65
HP:0030163	HP:0002204	Pulmonary embolism	2	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive	.	65
HP:0030163	HP:0002204	Pulmonary embolism	2	PROC CL E G H	5624	9451	OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant	.	65
HP:0030163	HP:0002204	Pulmonary embolism	2	PROS1 CL E G H	5627	9456	ORPHA:743	Severe hereditary thrombophilia due to congenital protein S deficiency	HP:0040283 - Occasional	75
HP:0030163	HP:0002204	Pulmonary embolism	2	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive	.	75
HP:0030163	HP:0002204	Pulmonary embolism	2	PROS1 CL E G H	5627	9456	OMIM:612336	Thrombophilia, hereditary, due to protein S deficiency, autosomal	.	75
HP:0030163	HP:0033401	Tissue ischemia	2	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0030163	HP:0002204	Pulmonary embolism	2	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent	948
HP:0030163	HP:0033401	Tissue ischemia	2	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis		3
HP:0030163	HP:0033401	Tissue ischemia	2	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis		3
HP:0030163	HP:0033401	Tissue ischemia	2	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation		88
HP:0030163	HP:0032552	Abnormal pulse	2	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome		88
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome		3
HP:0030163	HP:0033401	Tissue ischemia	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0030163	HP:0030880	Raynaud phenomenon	2	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	33
HP:0030163	HP:0030880	Raynaud phenomenon	2	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	34
HP:0030163	HP:0030880	Raynaud phenomenon	2	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	60
HP:0030163	HP:0030880	Raynaud phenomenon	2	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome	.	5
HP:0030163	HP:0033401	Tissue ischemia	2	RNF213 CL E G H	57674	14539	OMIM:607151	MOYAMOYA DISEASE 2; MYMY2		14
HP:0030163	HP:0030880	Raynaud phenomenon	2	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0030163	HP:0030880	Raynaud phenomenon	2	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	55
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome		60
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1		77
HP:0030163	HP:0033401	Tissue ischemia	2	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill		1134
HP:0030163	HP:0033401	Tissue ischemia	2	SCNN1A CL E G H	6337	10599	ORPHA:526	Liddle syndrome		67
HP:0030163	HP:0033401	Tissue ischemia	2	SCNN1B CL E G H	6338	10600	ORPHA:526	Liddle syndrome		61
HP:0030163	HP:0033401	Tissue ischemia	2	SCNN1G CL E G H	6340	10602	ORPHA:526	Liddle syndrome		57
HP:0030163	HP:0002204	Pulmonary embolism	2	SERPINC1 CL E G H	462	775	OMIM:613118	Antithrombin III deficiency	.	88
HP:0030163	HP:0025324	Arterial occlusion	2	SERPINC1 CL E G H	462	775	OMIM:613118	Antithrombin III deficiency	.	88
HP:0030163	HP:0002204	Pulmonary embolism	2	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040282 - Frequent	88
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic		10
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	SFTPB CL E G H	6439	10801	ORPHA:217563	Neonatal acute respiratory distress due to SP-B deficiency		51
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1		51
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic		33
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2		33
HP:0030163	HP:0033401	Tissue ischemia	2	SH2B3 CL E G H	10019	29605	ORPHA:3318	Essential thrombocythemia		4
HP:0030163	HP:0030880	Raynaud phenomenon	2	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	145
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0030163	HP:0033401	Tissue ischemia	2	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome		178
HP:0030163	HP:0005317	Increased pulmonary vascular resistance	2	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040282 - Frequent	7
HP:0030163	HP:0030950	Pulmonary venous hypertension	2	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040283 - Occasional	110
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0030163	HP:0030950	Pulmonary venous hypertension	2	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040284 - Very rare	109
HP:0030163	HP:0033401	Tissue ischemia	2	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		7
HP:0030163	HP:0033401	Tissue ischemia	2	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		260
HP:0030163	HP:0033401	Tissue ischemia	2	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		504
HP:0030163	HP:0002204	Pulmonary embolism	2	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	504
HP:0030163	HP:0033401	Tissue ischemia	2	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia		504
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia		504
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	SMAD9 CL E G H	4093	6774	OMIM:615342	Pulmonary hypertension, primary, 2		132
HP:0030163	HP:0005317	Increased pulmonary vascular resistance	2	SMAD9 CL E G H	4093	6774	OMIM:615342	Pulmonary hypertension, primary, 2	.	132
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0030163	HP:0033401	Tissue ischemia	2	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0030163	HP:0033401	Tissue ischemia	2	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis		2
HP:0030163	HP:0033401	Tissue ischemia	2	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0030163	HP:0030880	Raynaud phenomenon	2	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040284 - Very rare
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0030163	HP:0002204	Pulmonary embolism	2	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0030163	HP:0033401	Tissue ischemia	2	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease		2
HP:0030163	HP:0030880	Raynaud phenomenon	2	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040284 - Very rare	2
HP:0030163	HP:0030880	Raynaud phenomenon	2	STING1 CL E G H	340061	27962	OMIM:615934	STING-associated vasculopathy, infantile-onset
HP:0030163	HP:0033401	Tissue ischemia	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0030163	HP:0033401	Tissue ischemia	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type		20
HP:0030163	HP:0005317	Increased pulmonary vascular resistance	2	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	20
HP:0030163	HP:0033401	Tissue ischemia	2	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type		20
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome		55
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis		82
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic		238
HP:0030163	HP:0033401	Tissue ischemia	2	TET2 CL E G H	54790	25941	ORPHA:3318	Essential thrombocythemia		3
HP:0030163	HP:0002639	Budd-Chiari syndrome	2	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	3
HP:0030163	HP:0002204	Pulmonary embolism	2	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	3
HP:0030163	HP:0004417	Intermittent claudication	2	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	3
HP:0030163	HP:0033401	Tissue ischemia	2	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		162
HP:0030163	HP:0033401	Tissue ischemia	2	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		85
HP:0030163	HP:0033401	Tissue ischemia	2	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		239
HP:0030163	HP:0033401	Tissue ischemia	2	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		253
HP:0030163	HP:0033401	Tissue ischemia	2	TGFBR3 CL E G H	7049	11774	ORPHA:231160	Familial cerebral saccular aneurysm		1
HP:0030163	HP:0002204	Pulmonary embolism	2	THBD CL E G H	7056	11784	OMIM:614486	Thrombophilia due to thrombomodulin defect		60
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis		23
HP:0030163	HP:0033401	Tissue ischemia	2	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis		23
HP:0030163	HP:0033401	Tissue ischemia	2	THSD1 CL E G H	55901	17754	ORPHA:231160	Familial cerebral saccular aneurysm		2
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type		6
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type		6
HP:0030163	HP:0033401	Tissue ischemia	2	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type		6
HP:0030163	HP:0005317	Increased pulmonary vascular resistance	2	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	6
HP:0030163	HP:0033401	Tissue ischemia	2	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease		3
HP:0030163	HP:0002204	Pulmonary embolism	2	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional	3
HP:0030163	HP:0030880	Raynaud phenomenon	2	TLR7 CL E G H	51284	15631	OMIM:301080
HP:0030163	HP:0033401	Tissue ischemia	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis		44
HP:0030163	HP:0030950	Pulmonary venous hypertension	2	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent	180
HP:0030163	HP:0030950	Pulmonary venous hypertension	2	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent	248
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0030163	HP:0025017	Capillary fragility	2	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease		911
HP:0030163	HP:0033401	Tissue ischemia	2	TP53 CL E G H	7157	11998	ORPHA:3318	Essential thrombocythemia		911
HP:0030163	HP:0030880	Raynaud phenomenon	2	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional	56
HP:0030163	HP:0030880	Raynaud phenomenon	2	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040281 - Very frequent	56
HP:0030163	HP:0030880	Raynaud phenomenon	2	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	.	56
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0030163	HP:0033401	Tissue ischemia	2	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0030163	HP:0002204	Pulmonary embolism	2	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0030163	HP:0025017	Capillary fragility	2	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease		1
HP:0030163	HP:0025017	Capillary fragility	2	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease		7
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15		248
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2		490
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders		1
HP:0030163	HP:0033401	Tissue ischemia	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0030163	HP:0032552	Abnormal pulse	2	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		14
HP:0030163	HP:0004417	Intermittent claudication	2	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		14
HP:0030163	HP:0032552	Abnormal pulse	2	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		5
HP:0030163	HP:0004417	Intermittent claudication	2	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		5
HP:0030163	HP:0030880	Raynaud phenomenon	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	83
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:0030163	HP:0033401	Tissue ischemia	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:0030163	HP:0004890	Elevated pulmonary artery pressure	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0030163	HP:0032008	Pulmonary fat embolism	3	CL E G H
HP:0030163	HP:0025497	Coronary artery spasm	3	CL E G H
HP:0030163	HP:0033403	Testicular ischemia	3	CL E G H
HP:0030163	HP:0033402	Digital ischemia	3	CL E G H
HP:0030163	HP:0033636	Combined pre- and post-capillary pulmonary hypertension	3	CL E G H
HP:0030163	HP:0033352	Pulmonary hypertensive crisis	3	CL E G H
HP:0030163	HP:0033635	Post-capillary pulmonary hypertension	3	CL E G H
HP:0030163	HP:0030849	Hepatojugular reflux	3	CL E G H
HP:0030163	HP:0033426	Pulmonary air embolism	3	CL E G H
HP:0030163	HP:0030965	Aortic stiffness	3	CL E G H
HP:0030163	HP:0032554	Absent pulse	3	CL E G H
HP:0030163	HP:0033404	Intestinal ischemia	3	CL E G H
HP:0030163	HP:0030894	Insufficient response to short acting pulmonary vasodilator	3	CL E G H
HP:0030163	HP:0002637	Cerebral ischemia	3	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy		415
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy		415
HP:0030163	HP:0032553	Weak pulse	3	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional	415
HP:0030163	HP:0032553	Weak pulse	3	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		415
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0030163	HP:0002637	Cerebral ischemia	3	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		94
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome		94
HP:0030163	HP:0002637	Cerebral ischemia	3	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		72
HP:0030163	HP:0002637	Cerebral ischemia	3	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type		208
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type		208
HP:0030163	HP:0002637	Cerebral ischemia	3	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		123
HP:0030163	HP:0002637	Cerebral ischemia	3	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia		178
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia		178
HP:0030163	HP:0002637	Cerebral ischemia	3	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0030163	HP:0002637	Cerebral ischemia	3	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0030163	HP:0002637	Cerebral ischemia	3	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary		129
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome		6
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome		404
HP:0030163	HP:0002637	Cerebral ischemia	3	ANGPTL6 CL E G H	83854	23140	ORPHA:231160	Familial cerebral saccular aneurysm
HP:0030163	HP:0002637	Cerebral ischemia	3	APP CL E G H	351	620	OMIM:605714	Cerebral amyloid angiopathy, APP-related	.	74
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome		147
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1		147
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	ATP5F1A CL E G H	498	823	OMIM:616045	Combined oxidative phosphorylation deficiency 22
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0030163	HP:0002637	Cerebral ischemia	3	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0030163	HP:0002637	Cerebral ischemia	3	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0030163	HP:0030848	Elevated jugular venous pressure	3	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1		525
HP:0030163	HP:0030848	Elevated jugular venous pressure	3	BMPR2 CL E G H	659	1078	OMIM:265450	PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1		525
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	BMPR2 CL E G H	659	1078	OMIM:265450	PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1		525
HP:0030163	HP:0002637	Cerebral ischemia	3	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040283 - Occasional	276
HP:0030163	HP:0002637	Cerebral ischemia	3	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome		8
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2		1
HP:0030163	HP:0002637	Cerebral ischemia	3	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0030163	HP:0002637	Cerebral ischemia	3	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities		51
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome		51
HP:0030163	HP:0002637	Cerebral ischemia	3	CALR CL E G H	811	1455	ORPHA:3318	Essential thrombocythemia		1
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis		11
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis		11
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	CAV1 CL E G H	857	1527	OMIM:615343	Pulmonary hypertension, primary, 3		11
HP:0030163	HP:0002637	Cerebral ischemia	3	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria	HP:0040282 - Frequent	242
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0030163	HP:0002637	Cerebral ischemia	3	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type		5
HP:0030163	HP:0002637	Cerebral ischemia	3	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type		5
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type		5
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis		102
HP:0030163	HP:0002637	Cerebral ischemia	3	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG		52
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III		373
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III		243
HP:0030163	HP:0002637	Cerebral ischemia	3	COL3A1 CL E G H	1281	2201	ORPHA:231160	Familial cerebral saccular aneurysm		749
HP:0030163	HP:0002637	Cerebral ischemia	3	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0030163	HP:0002637	Cerebral ischemia	3	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies		193
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes		90
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7		10
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2		6
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15		1
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0030163	HP:0002637	Cerebral ischemia	3	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent	10
HP:0030163	HP:0002637	Cerebral ischemia	3	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040283 - Occasional	88
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome		9
HP:0030163	HP:0002637	Cerebral ischemia	3	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome		18
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0030163	HP:0002637	Cerebral ischemia	3	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0030163	HP:0002637	Cerebral ischemia	3	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		172
HP:0030163	HP:0002637	Cerebral ischemia	3	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	172
HP:0030163	HP:0002637	Cerebral ischemia	3	ENG CL E G H	2022	3349	ORPHA:231160	Familial cerebral saccular aneurysm		186
HP:0030163	HP:0002637	Cerebral ischemia	3	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia		186
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia		186
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0030163	HP:0002637	Cerebral ischemia	3	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0030163	HP:0032553	Weak pulse	3	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional	151
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy		151
HP:0030163	HP:0002637	Cerebral ischemia	3	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy		151
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome		4
HP:0030163	HP:0002637	Cerebral ischemia	3	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040283 - Occasional	3
HP:0030163	HP:0002637	Cerebral ischemia	3	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0030163	HP:0002637	Cerebral ischemia	3	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional	59
HP:0030163	HP:0002637	Cerebral ischemia	3	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		1361
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2		1361
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis		172
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans		145
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0030163	HP:0002637	Cerebral ischemia	3	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome		493
HP:0030163	HP:0002637	Cerebral ischemia	3	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		23
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia		61
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome		184
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0030163	HP:0002637	Cerebral ischemia	3	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type		87
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type		87
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	GATA6 CL E G H	2627	4174	OMIM:614475	Atrial septal defect 9		37
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type		37
HP:0030163	HP:0002637	Cerebral ischemia	3	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type		37
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0030163	HP:0002637	Cerebral ischemia	3	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia		8
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia		8
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3		68
HP:0030163	HP:0002637	Cerebral ischemia	3	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease		291
HP:0030163	HP:0002637	Cerebral ischemia	3	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease		291
HP:0030163	HP:0002637	Cerebral ischemia	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0030163	HP:0002637	Cerebral ischemia	3	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0030163	HP:0002637	Cerebral ischemia	3	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0030163	HP:0002637	Cerebral ischemia	3	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0030163	HP:0002637	Cerebral ischemia	3	GUCY1A1 CL E G H	2982	4685	OMIM:615750	Moyamoya disease 6 with achalasia
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia		580
HP:0030163	HP:0002637	Cerebral ischemia	3	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection
HP:0030163	HP:0030848	Elevated jugular venous pressure	3	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional	38
HP:0030163	HP:0002637	Cerebral ischemia	3	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional	4
HP:0030163	HP:0002637	Cerebral ischemia	3	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent	4
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis		4
HP:0030163	HP:0002637	Cerebral ischemia	3	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040283 - Occasional	4
HP:0030163	HP:0002637	Cerebral ischemia	3	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent
HP:0030163	HP:0002637	Cerebral ischemia	3	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent	1
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis		2
HP:0030163	HP:0002637	Cerebral ischemia	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent	2
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis		2
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1		2
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0030163	HP:0002637	Cerebral ischemia	3	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0030163	HP:0002637	Cerebral ischemia	3	HTRA1 CL E G H	5654	9476	OMIM:616779	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2		34
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome		115
HP:0030163	HP:0002637	Cerebral ischemia	3	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional	60
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0030163	HP:0002637	Cerebral ischemia	3	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040283 - Occasional	52
HP:0030163	HP:0002637	Cerebral ischemia	3	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0030163	HP:0002637	Cerebral ischemia	3	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0030163	HP:0002637	Cerebral ischemia	3	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0030163	HP:0002637	Cerebral ischemia	3	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040283 - Occasional	31
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis		31
HP:0030163	HP:0002637	Cerebral ischemia	3	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis		4
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis		4
HP:0030163	HP:0002637	Cerebral ischemia	3	JAK2 CL E G H	3717	6192	ORPHA:3318	Essential thrombocythemia		57
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis		57
HP:0030163	HP:0002637	Cerebral ischemia	3	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis	HP:0040282 - Frequent	57
HP:0030163	HP:0002637	Cerebral ischemia	3	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera	.	57
HP:0030163	HP:0002637	Cerebral ischemia	3	JAK2 CL E G H	3717	6192	OMIM:614521	Thrombocythemia 3		57
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	KCNK3 CL E G H	3777	6278	OMIM:615344	Pulmonary hypertension, primary, 4		7
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis
HP:0030163	HP:0002637	Cerebral ischemia	3	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis		196
HP:0030163	HP:0002637	Cerebral ischemia	3	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome		196
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial		19
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy		411
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes		92
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0030163	HP:0002637	Cerebral ischemia	3	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency		21
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0030163	HP:0002637	Cerebral ischemia	3	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:0030163	HP:0002637	Cerebral ischemia	3	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		6
HP:0030163	HP:0002637	Cerebral ischemia	3	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		13
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0030163	HP:0002637	Cerebral ischemia	3	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional	281
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0030163	HP:0002637	Cerebral ischemia	3	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0030163	HP:0002637	Cerebral ischemia	3	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		11
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome		33
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis
HP:0030163	HP:0002637	Cerebral ischemia	3	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040283 - Occasional
HP:0030163	HP:0002637	Cerebral ischemia	3	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0030163	HP:0002637	Cerebral ischemia	3	MPL CL E G H	4352	7217	ORPHA:3318	Essential thrombocythemia		97
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis		97
HP:0030163	HP:0002637	Cerebral ischemia	3	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis	HP:0040282 - Frequent	97
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic		133
HP:0030163	HP:0002637	Cerebral ischemia	3	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4		1143
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	MYBPC3 CL E G H	4607	7551	OMIM:615396	Left ventricular noncompaction 10		1143
HP:0030163	HP:0002637	Cerebral ischemia	3	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		418
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type		452
HP:0030163	HP:0002637	Cerebral ischemia	3	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type		452
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0030163	HP:0002637	Cerebral ischemia	3	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve	HP:0040283 - Occasional	1269
HP:0030163	HP:0030848	Elevated jugular venous pressure	3	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0030163	HP:0002637	Cerebral ischemia	3	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		326
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome		5
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0030163	HP:0002637	Cerebral ischemia	3	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040284 - Very rare	36
HP:0030163	HP:0002637	Cerebral ischemia	3	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	13
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome		40
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome		51
HP:0030163	HP:0002637	Cerebral ischemia	3	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type		90
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type		90
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome		187
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome		452
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5		452
HP:0030163	HP:0002637	Cerebral ischemia	3	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy		144
HP:0030163	HP:0002637	Cerebral ischemia	3	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040282 - Frequent	144
HP:0030163	HP:0002637	Cerebral ischemia	3	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill		13
HP:0030163	HP:0002637	Cerebral ischemia	3	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent	3
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type		1
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2		40
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0030163	HP:0002637	Cerebral ischemia	3	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0030163	HP:0002637	Cerebral ischemia	3	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome	HP:0040283 - Occasional	162
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	PPCS CL E G H	79717	25686	OMIM:618189	Cardiomyopathy, dilated, 2C
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0030163	HP:0002637	Cerebral ischemia	3	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		41
HP:0030163	HP:0002637	Cerebral ischemia	3	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent
HP:0030163	HP:0002637	Cerebral ischemia	3	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040281 - Very frequent	3
HP:0030163	HP:0002637	Cerebral ischemia	3	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040281 - Very frequent	3
HP:0030163	HP:0002637	Cerebral ischemia	3	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040283 - Occasional	88
HP:0030163	HP:0032555	Bounding pulse	3	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040282 - Frequent	88
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome		3
HP:0030163	HP:0002637	Cerebral ischemia	3	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0030163	HP:0002637	Cerebral ischemia	3	RNF213 CL E G H	57674	14539	OMIM:607151	MOYAMOYA DISEASE 2; MYMY2		14
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome		60
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1		77
HP:0030163	HP:0002637	Cerebral ischemia	3	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill		1134
HP:0030163	HP:0002637	Cerebral ischemia	3	SCNN1A CL E G H	6337	10599	ORPHA:526	Liddle syndrome	HP:0040282 - Frequent	67
HP:0030163	HP:0002637	Cerebral ischemia	3	SCNN1B CL E G H	6338	10600	ORPHA:526	Liddle syndrome	HP:0040282 - Frequent	61
HP:0030163	HP:0002637	Cerebral ischemia	3	SCNN1G CL E G H	6340	10602	ORPHA:526	Liddle syndrome	HP:0040282 - Frequent	57
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic		10
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	SFTPB CL E G H	6439	10801	ORPHA:217563	Neonatal acute respiratory distress due to SP-B deficiency		51
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1		51
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic		33
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2		33
HP:0030163	HP:0002637	Cerebral ischemia	3	SH2B3 CL E G H	10019	29605	ORPHA:3318	Essential thrombocythemia		4
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0030163	HP:0002637	Cerebral ischemia	3	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome		178
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic		110
HP:0030163	HP:0002637	Cerebral ischemia	3	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		7
HP:0030163	HP:0002637	Cerebral ischemia	3	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		260
HP:0030163	HP:0002637	Cerebral ischemia	3	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		504
HP:0030163	HP:0002637	Cerebral ischemia	3	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia		504
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia		504
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	SMAD9 CL E G H	4093	6774	OMIM:615342	Pulmonary hypertension, primary, 2		132
HP:0030163	HP:0002637	Cerebral ischemia	3	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.	74
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0030163	HP:0002637	Cerebral ischemia	3	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent	74
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia		74
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis		2
HP:0030163	HP:0002637	Cerebral ischemia	3	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome		89
HP:0030163	HP:0002637	Cerebral ischemia	3	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0030163	HP:0002637	Cerebral ischemia	3	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0030163	HP:0002637	Cerebral ischemia	3	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0030163	HP:0002637	Cerebral ischemia	3	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type		20
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type		20
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome		55
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis		82
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic		238
HP:0030163	HP:0002637	Cerebral ischemia	3	TET2 CL E G H	54790	25941	ORPHA:3318	Essential thrombocythemia		3
HP:0030163	HP:0002637	Cerebral ischemia	3	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		162
HP:0030163	HP:0002637	Cerebral ischemia	3	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		85
HP:0030163	HP:0002637	Cerebral ischemia	3	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		239
HP:0030163	HP:0002637	Cerebral ischemia	3	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		253
HP:0030163	HP:0002637	Cerebral ischemia	3	TGFBR3 CL E G H	7049	11774	ORPHA:231160	Familial cerebral saccular aneurysm		1
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis		23
HP:0030163	HP:0002637	Cerebral ischemia	3	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis	HP:0040282 - Frequent	23
HP:0030163	HP:0002637	Cerebral ischemia	3	THSD1 CL E G H	55901	17754	ORPHA:231160	Familial cerebral saccular aneurysm		2
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type		6
HP:0030163	HP:0002637	Cerebral ischemia	3	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type		6
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type		6
HP:0030163	HP:0002637	Cerebral ischemia	3	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional	3
HP:0030163	HP:0002637	Cerebral ischemia	3	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis		44
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0030163	HP:0002637	Cerebral ischemia	3	TP53 CL E G H	7157	11998	ORPHA:3318	Essential thrombocythemia		911
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0030163	HP:0002637	Cerebral ischemia	3	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15		248
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2		490
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders		1
HP:0030163	HP:0002637	Cerebral ischemia	3	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0030163	HP:0032553	Weak pulse	3	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		14
HP:0030163	HP:0032553	Weak pulse	3	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		5
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:0030163	HP:0002637	Cerebral ischemia	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:0030163	HP:0033578	Pre-capillary pulmonary hypertension	3	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0030163	HP:0031271	Absent ankle pulse	4	CL E G H
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare	415
HP:0030163	HP:0002326	Transient ischemic attack	4	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare	415
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	HP:0040283 - Occasional	53
HP:0030163	HP:0002326	Transient ischemic attack	4	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	94
HP:0030163	HP:0002140	Ischemic stroke	4	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	94
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome	.	94
HP:0030163	HP:0002326	Transient ischemic attack	4	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040283 - Occasional	72
HP:0030163	HP:0002326	Transient ischemic attack	4	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	208
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	208
HP:0030163	HP:0002326	Transient ischemic attack	4	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040283 - Occasional	123
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	178
HP:0030163	HP:0002326	Transient ischemic attack	4	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	178
HP:0030163	HP:0002140	Ischemic stroke	4	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0030163	HP:0002326	Transient ischemic attack	4	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0030163	HP:0002140	Ischemic stroke	4	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0030163	HP:0002326	Transient ischemic attack	4	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary		129
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional	6
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0030163	HP:0002326	Transient ischemic attack	4	ANGPTL6 CL E G H	83854	23140	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040282 - Frequent
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	147
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	.	147
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive	.
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	ATP5F1A CL E G H	498	823	OMIM:616045	Combined oxidative phosphorylation deficiency 22	.
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome	.	22
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1		525
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	BMPR2 CL E G H	659	1078	OMIM:265450	PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1		525
HP:0030163	HP:0002140	Ischemic stroke	4	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	HP:0040282 - Frequent	8
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2		1
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities	HP:0040283 - Occasional	51
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	HP:0040282 - Frequent	51
HP:0030163	HP:0002326	Transient ischemic attack	4	CALR CL E G H	811	1455	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	1
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040283 - Occasional	11
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	CAV1 CL E G H	857	1527	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040283 - Occasional	11
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	CAV1 CL E G H	857	1527	OMIM:615343	Pulmonary hypertension, primary, 3	.	11
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040283 - Occasional
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	CCN2 CL E G H	1490	2500	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040283 - Occasional
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040283 - Occasional
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	CCR6 CL E G H	1235	1607	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040283 - Occasional
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0030163	HP:0002326	Transient ischemic attack	4	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	5
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	5
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type	HP:0040283 - Occasional	5
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	102
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040282 - Frequent	52
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III	.	373
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III	.	243
HP:0030163	HP:0002326	Transient ischemic attack	4	COL3A1 CL E G H	1281	2201	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040282 - Frequent	749
HP:0030163	HP:0002326	Transient ischemic attack	4	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0030163	HP:0002140	Ischemic stroke	4	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies	.	193
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040284 - Very rare	90
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7		10
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2	HP:0040283 - Occasional	6
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15		1
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional	20
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	9
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	18
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0030163	HP:0002326	Transient ischemic attack	4	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	172
HP:0030163	HP:0002140	Ischemic stroke	4	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	172
HP:0030163	HP:0002326	Transient ischemic attack	4	ENG CL E G H	2022	3349	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040282 - Frequent	186
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	186
HP:0030163	HP:0002326	Transient ischemic attack	4	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	186
HP:0030163	HP:0002140	Ischemic stroke	4	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0030163	HP:0002326	Transient ischemic attack	4	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0030163	HP:0002326	Transient ischemic attack	4	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare	151
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare	151
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	4
HP:0030163	HP:0002140	Ischemic stroke	4	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	1361
HP:0030163	HP:0002326	Transient ischemic attack	4	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	1361
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2		1361
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent	172
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans	HP:0040283 - Occasional	145
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.	493
HP:0030163	HP:0002326	Transient ischemic attack	4	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	23
HP:0030163	HP:0002140	Ischemic stroke	4	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	23
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040281 - Very frequent	61
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040283 - Occasional	184
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.	37
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	87
HP:0030163	HP:0002326	Transient ischemic attack	4	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	87
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	GATA6 CL E G H	2627	4174	OMIM:614475	Atrial septal defect 9	HP:0040283 - Occasional	37
HP:0030163	HP:0002326	Transient ischemic attack	4	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	37
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	37
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040283 - Occasional
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040283 - Occasional
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	8
HP:0030163	HP:0002326	Transient ischemic attack	4	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	8
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3	.	68
HP:0030163	HP:0002326	Transient ischemic attack	4	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040281 - Very frequent	291
HP:0030163	HP:0002326	Transient ischemic attack	4	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease	.	291
HP:0030163	HP:0002140	Ischemic stroke	4	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0030163	HP:0002140	Ischemic stroke	4	GUCY1A1 CL E G H	2982	4685	OMIM:615750	Moyamoya disease 6 with achalasia	HP:0040283 - Occasional
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040283 - Occasional	580
HP:0030163	HP:0002140	Ischemic stroke	4	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional
HP:0030163	HP:0002326	Transient ischemic attack	4	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent	4
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040283 - Occasional	2
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	HLA-DRB1 CL E G H	3123	4948	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040283 - Occasional	2
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1		2
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional	345
HP:0030163	HP:0002140	Ischemic stroke	4	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0030163	HP:0002326	Transient ischemic attack	4	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0030163	HP:0002326	Transient ischemic attack	4	HTRA1 CL E G H	5654	9476	OMIM:616779	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	.	34
HP:0030163	HP:0002140	Ischemic stroke	4	HTRA1 CL E G H	5654	9476	OMIM:616779	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2		34
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome	.	115
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040283 - Occasional	52
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent	31
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040283 - Occasional	4
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	IRF5 CL E G H	3663	6120	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040283 - Occasional	4
HP:0030163	HP:0002326	Transient ischemic attack	4	JAK2 CL E G H	3717	6192	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	57
HP:0030163	HP:0002326	Transient ischemic attack	4	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis	HP:0040282 - Frequent	57
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional	57
HP:0030163	HP:0002140	Ischemic stroke	4	JAK2 CL E G H	3717	6192	OMIM:614521	Thrombocythemia 3		57
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	KCNK3 CL E G H	3777	6278	OMIM:615344	Pulmonary hypertension, primary, 4	.	7
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	KIAA0319L CL E G H	79932	30071	ORPHA:220402	Limited cutaneous systemic sclerosis	HP:0040283 - Occasional
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent	196
HP:0030163	HP:0002326	Transient ischemic attack	4	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	.	196
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial	.	19
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040284 - Very rare	411
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040284 - Very rare	92
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency	.	21
HP:0030163	HP:0002326	Transient ischemic attack	4	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	645
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040284 - Very rare	645
HP:0030163	HP:0002140	Ischemic stroke	4	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	6
HP:0030163	HP:0002326	Transient ischemic attack	4	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	6
HP:0030163	HP:0002326	Transient ischemic attack	4	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	13
HP:0030163	HP:0002140	Ischemic stroke	4	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	13
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040283 - Occasional	228
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional	43
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0030163	HP:0002140	Ischemic stroke	4	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	11
HP:0030163	HP:0002326	Transient ischemic attack	4	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	11
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome	HP:0040282 - Frequent	33
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional	101
HP:0030163	HP:0002326	Transient ischemic attack	4	MPL CL E G H	4352	7217	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	97
HP:0030163	HP:0002326	Transient ischemic attack	4	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis	HP:0040282 - Frequent	97
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional	97
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic	.	133
HP:0030163	HP:0002326	Transient ischemic attack	4	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4	.	1143
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	MYBPC3 CL E G H	4607	7551	OMIM:615396	Left ventricular noncompaction 10		1143
HP:0030163	HP:0002326	Transient ischemic attack	4	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	418
HP:0030163	HP:0002140	Ischemic stroke	4	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	418
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	452
HP:0030163	HP:0002326	Transient ischemic attack	4	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	452
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0030163	HP:0002326	Transient ischemic attack	4	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	326
HP:0030163	HP:0002140	Ischemic stroke	4	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	326
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome		5
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional	1952
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040283 - Occasional	40
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1	.	34
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040283 - Occasional	51
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	90
HP:0030163	HP:0002326	Transient ischemic attack	4	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	90
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040283 - Occasional	187
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	452
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5	.	452
HP:0030163	HP:0002140	Ischemic stroke	4	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy		144
HP:0030163	HP:0002140	Ischemic stroke	4	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040283 - Occasional	144
HP:0030163	HP:0002326	Transient ischemic attack	4	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040282 - Frequent	144
HP:0030163	HP:0002140	Ischemic stroke	4	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill	HP:0040283 - Occasional	13
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	.	1
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	PDSS1 CL E G H	23590	17759	OMIM:614651	Coenzyme Q10 deficiency, primary, 2	.	40
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0030163	HP:0002140	Ischemic stroke	4	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	PPCS CL E G H	79717	25686	OMIM:618189	Cardiomyopathy, dilated, 2C	.
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0030163	HP:0002140	Ischemic stroke	4	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	41
HP:0030163	HP:0002326	Transient ischemic attack	4	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	41
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	3
HP:0030163	HP:0002326	Transient ischemic attack	4	RNF213 CL E G H	57674	14539	OMIM:607151	MOYAMOYA DISEASE 2; MYMY2		14
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome	.	60
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040283 - Occasional	77
HP:0030163	HP:0002140	Ischemic stroke	4	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill	HP:0040283 - Occasional	1134
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic	.	10
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	SFTPB CL E G H	6439	10801	ORPHA:217563	Neonatal acute respiratory distress due to SP-B deficiency	HP:0040282 - Frequent	51
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	SFTPB CL E G H	6439	10801	OMIM:265120	Surfactant metabolism dysfunction, pulmonary, 1		51
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic	.	33
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	SFTPC CL E G H	6440	10802	OMIM:610913	Surfactant metabolism dysfunction, pulmonary, 2		33
HP:0030163	HP:0002326	Transient ischemic attack	4	SH2B3 CL E G H	10019	29605	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	4
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0030163	HP:0002140	Ischemic stroke	4	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	.	178
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.	110
HP:0030163	HP:0002140	Ischemic stroke	4	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	7
HP:0030163	HP:0002326	Transient ischemic attack	4	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	7
HP:0030163	HP:0002140	Ischemic stroke	4	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	260
HP:0030163	HP:0002326	Transient ischemic attack	4	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	260
HP:0030163	HP:0002326	Transient ischemic attack	4	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	504
HP:0030163	HP:0002140	Ischemic stroke	4	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	504
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	504
HP:0030163	HP:0002326	Transient ischemic attack	4	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	504
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	SMAD9 CL E G H	4093	6774	OMIM:615342	Pulmonary hypertension, primary, 2	.	132
HP:0030163	HP:0002326	Transient ischemic attack	4	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.	74
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type		74
HP:0030163	HP:0002326	Transient ischemic attack	4	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040283 - Occasional	74
HP:0030163	HP:0002140	Ischemic stroke	4	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040283 - Occasional	74
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040283 - Occasional	74
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	2
HP:0030163	HP:0002140	Ischemic stroke	4	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0030163	HP:0002326	Transient ischemic attack	4	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional	89
HP:0030163	HP:0002326	Transient ischemic attack	4	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	20
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	20
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040282 - Frequent	55
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	82
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic	.	238
HP:0030163	HP:0002326	Transient ischemic attack	4	TET2 CL E G H	54790	25941	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	3
HP:0030163	HP:0002140	Ischemic stroke	4	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	162
HP:0030163	HP:0002326	Transient ischemic attack	4	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	162
HP:0030163	HP:0002326	Transient ischemic attack	4	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	85
HP:0030163	HP:0002140	Ischemic stroke	4	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	85
HP:0030163	HP:0002326	Transient ischemic attack	4	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	239
HP:0030163	HP:0002140	Ischemic stroke	4	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	239
HP:0030163	HP:0002326	Transient ischemic attack	4	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	253
HP:0030163	HP:0002140	Ischemic stroke	4	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	253
HP:0030163	HP:0002326	Transient ischemic attack	4	TGFBR3 CL E G H	7049	11774	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040282 - Frequent	1
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional	23
HP:0030163	HP:0002326	Transient ischemic attack	4	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis	HP:0040282 - Frequent	23
HP:0030163	HP:0002326	Transient ischemic attack	4	THSD1 CL E G H	55901	17754	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040282 - Frequent	2
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040283 - Occasional	6
HP:0030163	HP:0002326	Transient ischemic attack	4	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	6
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	6
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional	44
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional
HP:0030163	HP:0002326	Transient ischemic attack	4	TP53 CL E G H	7157	11998	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	911
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional	7
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15		248
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2		490
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040282 - Frequent	1
HP:0030163	HP:0002326	Transient ischemic attack	4	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	83
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040284 - Very rare	83
HP:0030163	HP:0002092	Pulmonary arterial hypertension	4	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0030163	HP:0033423	Pulmonary arterial hypertension with positive acute response to NO challenge	5	CL E G H
HP:0030163	HP:0032325	Lacunar stroke	5	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0030163	HP:0032325	Lacunar stroke	5	HTRA1 CL E G H	5654	9476	OMIM:616779	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2		34
HP:0030163	HP:0033424	Pulmonary arterial hypertension with lack of acute response to NO challenge	5	KCNK3 CL E G H	3777	6278	OMIM:615344	Pulmonary hypertension, primary, 4		7
HP:0030163	HP:0032325	Lacunar stroke	5	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy		144
HP:0030163	HP:0032325	Lacunar stroke	5	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040281 - Very frequent	144
HP:0030163	HP:0032325	Lacunar stroke	5	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0030163	HP:0032570	Pontine ischemic lacunes	6	CL E G H